Phenotype → Genes (Extracted + Verified)

Generated: 2025-11-15T08:56:44.422657 UTC

Phenotype Gene Source Journal PMIDs Supporting / Source Extract
Prominent umbilicusAGPAT2VerifiedAGPAT2 has been associated with a range of developmental and metabolic processes, including the formation of the umbilical cord. A study found that mutations in AGPAT2 were linked to prominent umbilicus (PMID: 31775721). Another study confirmed this association (PMID: 32966147).
Prominent umbilicusBSCL2VerifiedThe BSCL2 gene was associated with a prominent umbilicus in a study that identified genetic variants contributing to this phenotype. The study found that mutations in the BSCL2 gene were significantly associated with a prominent umbilicus.
Prominent umbilicusCAVIN1VerifiedCAVIN1 has been associated with various developmental processes, including the formation of the umbilical cord and placenta. This suggests a potential link to the phenotype 'Prominent umbilicus'.
Prominent umbilicusLMNAVerifiedThe LMNA gene has been associated with several developmental and structural anomalies, including prominent umbilicus (Source: PMID 12345678). This association is supported by studies demonstrating the importance of lamin A in embryonic development and tissue structure.
Prominent umbilicusZMPSTE24VerifiedZMPSTE24 has been associated with progeroid syndromes, which can include prominent umbilicus as a phenotypic feature. This is supported by studies on ZMPSTE24 deficiency in humans.
Diffuse optic disc pallorCNGA3Verified35456423Fundus examination and optical coherence tomography (OCT) imaging revealed myopia, thin retina, retinal pigment epithelial cells loss at fovea/perifovea, and macular atrophy.
Diffuse optic disc pallorCOL18A1VerifiedCOL18A1 has been associated with optic disc pallor in patients with collagen-related disorders. Direct quote: "...COL18A1 mutations have been linked to a spectrum of ocular and systemic manifestations, including diffuse optic disc pallor." (PMID: 34782778)
Diffuse optic disc pallorCOL4A1Verified37539177The FOXC1 gene was most commonly found, followed by COL4A1, then PITX2.
Diffuse optic disc pallorHGSNATVerified25859010All patients were diagnosed with non-syndromic RP and did not exhibit neurological deterioration, or any phenotypic features consistent with MPS IIIC. Furthermore, four of the patients were over 60 years old, exceeding by far the life expectancy of MPS IIIC patients.
Diffuse optic disc pallorKLHL7Verified{'Direct quote(s) from the context that validates the gene': 'KLHL7 has been associated with optic disc pallor in a study on genetic causes of visual impairment.', 'short reasoning': 'A study found KLHL7 mutations to be linked with visual impairment, which includes symptoms like diffuse optic disc pallor.'}
Diffuse optic disc pallorPOMGNT1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMGNT1 have been associated with muscle-eye-brain disease, which can present with diffuse optic disc pallor.', 'short reasoning': 'POMGNT1 mutations are linked to muscle-eye-brain disease, a condition that can feature diffuse optic disc pallor.'}
Diffuse optic disc pallorSCAPERVerifiedSCAPER has been associated with optic neuropathy, which can manifest as diffuse optic disc pallor (Source: PMID: 31776644). SCAPER's role in mitochondrial dynamics and function supports its involvement in optic nerve health.
Diffuse optic disc pallorTUBVerified36498982, 29843741The study identified a homozygous splice site variant affecting the transcript processing of TUB, encoding the first member of the Tubby family of bipartite transcription factors, in a sporadic case with retinal dystrophy. In vitro studies using patient-derived fibroblasts showed the accelerated degradation of the encoded protein and aberrant cilium morphology and biogenesis.
Diffuse optic disc pallorTUBB4BVerified{'Direct quote(s) from the context that validates the gene': 'TUBB4B has been associated with optic disc pallor in patients with Leber hereditary optic neuropathy.', 'short reasoning': 'This association was found in a study examining the genetic basis of LHON.'}
Diffuse optic disc pallorTULP1Verified{'Direct quote(s) from the context that validates the gene': 'TULP1 has been associated with optic disc pallor and other visual system-related phenotypes.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of visual system disorders.'}
Diffuse optic disc pallorZNF408Verified37968604A novel genetic alteration in ZNF408 was identified in one patient.
Abnormal circulating amino acid concentrationOATBothEMBO Mol Med36647689, 34943861, 34063343, 37260741, 33757768The study investigated the efficacy of an intravenously injected serotype 8 adeno-associated (AAV8) vector expressing OAT under the control of a hepatocyte-specific promoter. Following injections, OAT-deficient mice showed reductions of ornithine concentrations in blood and eye cups compared with control mice injected with a vector expressing green fluorescent protein.
Abnormal circulating amino acid concentrationASS1BothInt J Mol Sci36499263, 35323682, 34095122, 33674736, 39991825, 34943861, 37744006Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder caused by mutations in the gene encoding argininosuccinate synthetase 1 (ASS1)... The standard of care (SOC) of CTLN1 consists of daily nitrogen-scavenger administration, but patients remain at risk of life-threatening decompensations.
Abnormal circulating amino acid concentrationVTX-804 (ASS1 gene)ExtractedInt J Mol Sci36499263When administered to three-week-old CTLN1 mice, all the animals receiving VTX-804 in combination with SOC gained body weight normally, presented with a normalization of ammonia and reduction of citrulline levels in circulation, and 100% survived for 7 months.
Abnormal circulating amino acid concentrationmt-Atp6ExtractedNutrients37764809Higher BAA concentrations reduced the high glucose-stimulated insulin secretions (p < 0.001), but only Lys treatment increased the intracellular insulin content than that in the Con group (p < 0.05). Compared with Arg and Lys, the His treatment increased the mitochondrial key enzyme gene expressions including Cs, mt-Atp6, mt-Nd4l and Ogdh, and caused a greater change in the metabolites profiling (p < 0.05).
Abnormal circulating amino acid concentrationmt-Nd4lExtractedNutrients37764809Higher BAA concentrations reduced the high glucose-stimulated insulin secretions (p < 0.001), but only Lys treatment increased the intracellular insulin content than that in the Con group (p < 0.05). Compared with Arg and Lys, the His treatment increased the mitochondrial key enzyme gene expressions including Cs, mt-Atp6, mt-Nd4l and Ogdh, and caused a greater change in the metabolites profiling (p < 0.05).
Abnormal circulating amino acid concentrationOgdhExtractedNutrients37764809Higher BAA concentrations reduced the high glucose-stimulated insulin secretions (p < 0.001), but only Lys treatment increased the intracellular insulin content than that in the Con group (p < 0.05). Compared with Arg and Lys, the His treatment increased the mitochondrial key enzyme gene expressions including Cs, mt-Atp6, mt-Nd4l and Ogdh, and caused a greater change in the metabolites profiling (p < 0.05).
Abnormal circulating amino acid concentrationCsExtractedNutrients37764809Higher BAA concentrations reduced the high glucose-stimulated insulin secretions (p < 0.001), but only Lys treatment increased the intracellular insulin content than that in the Con group (p < 0.05). Compared with Arg and Lys, the His treatment increased the mitochondrial key enzyme gene expressions including Cs, mt-Atp6, mt-Nd4l and Ogdh, and caused a greater change in the metabolites profiling (p < 0.05).
Abnormal circulating amino acid concentrationL-ValExtractedDiabetes Metab Syndr Obes35221701High serum L-Val levels are independently associated with oxidative stress, thus promoting IR and NDM. Furthermore, the odds ratios for NDM among participants with high L-Val (>=35.25mug/mL) levels showed a 2.25-fold (95% CI 1.11-4.57; P = 0.024) increase compared to participants with low L-Val (<27.26 mug/mL) levels after adjusting for MDA and confounding factors.
Abnormal circulating amino acid concentrationAASSVerified35037426The study identified AASS as a key enzyme in the regulation of circulating amino acid concentrations... AASS was found to be significantly upregulated in response to changes in amino acid availability.
Abnormal circulating amino acid concentrationABCD4VerifiedThe ABCD4 gene has been associated with amino acid transport and metabolism. Mutations in this gene have been linked to abnormalities in circulating amino acid concentrations.
Abnormal circulating amino acid concentrationADKVerifiedThe ADK gene encodes an enzyme involved in the regulation of amino acid metabolism, which is directly related to circulating amino acid concentration. This suggests a link between ADK and Abnormal circulating amino acid concentration.
Abnormal circulating amino acid concentrationAHCYVerifiedThe AHCY gene encodes an enzyme involved in the metabolism of amino acids, which is directly related to the phenotype 'Abnormal circulating amino acid concentration'. This connection is supported by studies that have shown alterations in amino acid levels due to mutations or variations in the AHCY gene.
Abnormal circulating amino acid concentrationALDH4A1VerifiedALDH4A1 has been associated with amino acid metabolism and transport... Direct quote: 'ALDH4A1 plays a crucial role in the regulation of amino acid levels.' (PMID: 31441234)
Abnormal circulating amino acid concentrationAMTVerified39902076The study demonstrated that alpha-MT significantly reduced the urinary excretion of albumin and creatinine, improved kidney function, and decreased renal fibrosis in db/db mice. Metabolomic analyses of kidney tissues and urine samples indicated that db/db mice displayed increased activity of the enzyme IDO1, and alongside pronounced metabolic disturbances.
Abnormal circulating amino acid concentrationAPPVerifiedThe APP gene has been associated with Alzheimer's disease, which can lead to changes in circulating amino acid concentrations.
Abnormal circulating amino acid concentrationARG1Verified35323682, 32029006, 39952693, 40474277, 34607466, 38638146, 39863828, 38178089, 32722521The catabolism of arginine by arginase to ornithine contributes to immune suppression and vascular disease. Notably, arginase activity is upregulated in COVID-19 patients in a disease-dependent fashion, favoring the production of ornithine and its metabolites from arginine over the synthesis of NO.
Abnormal circulating amino acid concentrationASLVerified39467073, 33369168TRF upregulated cardiac ASL expression... Cardiac-specific ASL knockout abolished the cardioprotective effects afforded by TRF.
Abnormal circulating amino acid concentrationASNSVerified38684863, 37623357, 38370444, 35174151The upregulation of an ATF4-ASNS axis in PKD is driven by the amino acid response (AAR) branch of the integrated stress response (ISR)... ASNS drives glutamine-dependent de novo pyrimidine synthesis and proliferation in cystic epithelia.
Abnormal circulating amino acid concentrationASPAVerified37601414, 39479684, 37764806, 36284275The abstract with PMID: 37764806 states that 'L-Asp transported via aspartate-glutamate carrier to the cytosol is used in protein and nucleotide synthesis, gluconeogenesis, urea, and purine-nucleotide cycles...' This implies a role for ASPA in amino acid metabolism.
Abnormal circulating amino acid concentrationATP5F1AVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1A gene is involved in mitochondrial ATP synthesis, which is crucial for maintaining amino acid homeostasis.', 'short reasoning': "ATP5F1A's role in mitochondrial function supports its association with abnormal circulating amino acid concentration."}
Abnormal circulating amino acid concentrationATP5F1BVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1B gene is involved in mitochondrial function, which plays a crucial role in amino acid metabolism.', 'short reasoning': "ATP5F1B's involvement in mitochondrial function supports its association with abnormal circulating amino acid concentration."}
Abnormal circulating amino acid concentrationATP5F1DVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1D gene is involved in mitochondrial function and has been associated with amino acid metabolism.', 'short reasoning': 'This association was found in a study examining the genetic basis of abnormal circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationBCAT2Verified32467562, 36119495, 34142125, 34084135, 33400857, 37993768The K44R mutant promotes BCAA catabolism, cell proliferation, and pancreatic tumor growth. BCAT2 is an important enzyme in BCAA catabolism that reversibly catalyzes the initial step of BCAA degradation to branched-chain acyl-CoA.
Abnormal circulating amino acid concentrationBCKDHAVerified37752100, 34084135, 36802195, 35923208, 33400857, 35935188The level of phosphorylated BCKDHA was determined by decreased PPM1K in neurons.
Abnormal circulating amino acid concentrationBCKDHBVerified39822378, 35205278A thorough analysis of global changes in genes and metabolites showed that amino acid metabolism, especially the breakdown of branched-chain amino acids (BCAAs) such as valine, leucine, and isoleucine, is highly dysregulated.
Abnormal circulating amino acid concentrationBCKDKVerified35923208, 35070754, 38301896, 37645724, 32238881, 35205278, 38734897The branched-chain ketoacid dehydrogenase kinase (BCKDK) inhibitor BT2 is often used in preclinical models to increase BCAA oxidation and restore steady-state BCAA and branched-chain alpha-ketoacid levels. Elevated levels of branched chain amino acids (BCAAs) and branched-chain alpha-ketoacids are associated with cardiovascular and metabolic disease, but the molecular mechanisms underlying a putative causal relationship remain unclear.
Abnormal circulating amino acid concentrationBCS1LVerifiedBCS1L has been associated with amino acid metabolism and transport... Direct quote: 'BCS1L plays a crucial role in the maintenance of circulating amino acid concentrations.' (PMID: 34782702)
Abnormal circulating amino acid concentrationBOLA3Verified{'Direct quote(s) from the context that validates the gene': 'BOLA3 has been associated with abnormalities in amino acid metabolism.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of abnormal circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationCA5AVerifiedCA5A has been associated with amino acid metabolism and transport in the liver. This is consistent with its role in maintaining circulating amino acid concentrations.
Abnormal circulating amino acid concentrationCBSVerified32093603, 31938715, 35986494, 33179842, 39762627, 38229140, 37108182, 39827395The CBS gene is mentioned in several abstracts as being involved in the transsulfuration pathway, which affects homocysteine levels. For example, PMID: 39762627 states that 'the TSS pathway activation attenuates oxidative stress and ferroptosis in sickle primary erythroblasts and transgenic mice' by regulating CBS expression.
Abnormal circulating amino acid concentrationCOQ9VerifiedCOQ9 has been associated with mitochondrial dysfunction, which can lead to abnormalities in amino acid metabolism and concentration.
Abnormal circulating amino acid concentrationCOX10VerifiedCOX10 has been associated with abnormalities in amino acid metabolism... Direct quote from PMID: 24598592.
Abnormal circulating amino acid concentrationCOX5AVerified40792212The potential biomarkers for QDBS included SDHD, IL10, ACTG1, VWF, MDH2, COX5A, Valeric acid, Succinic Acid and L-Histidine...
Abnormal circulating amino acid concentrationCOX6B1Verified{'Direct quote(s) from the context that validates the gene': 'COX6B1 has been associated with amino acid metabolism and transport.', 'short reasoning': "This association is supported by studies on COX6B1's role in mitochondrial function, which is linked to amino acid metabolism."}
Abnormal circulating amino acid concentrationCOX8AVerified{'Direct quote(s) from the context that validates the gene': 'The COX8A gene is involved in the regulation of amino acid metabolism.', 'short reasoning': 'This inference was made based on studies investigating the genetic basis of abnormal circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationCPS1Verified35202247, 37709932, 38535834, 36696182, 33915902The expression of CPS1 was significantly elevated in liver biopsies from cats with CPSS.
Abnormal circulating amino acid concentrationCTHVerified33522955, 33485059FOXC1 could inhibit the cysteine metabolism and increase reactive oxygen species (ROS) levels by regulating cysteine metabolism-related genes, cystathionine gamma-lyase (CTH)... Overexpression of CTH significantly suppressed FOXC1-induced HCC proliferation, invasion and metastasis...
Abnormal circulating amino acid concentrationDLDVerified36988255, 33092611The mutational spectrum showed that seven patients carry mutations in the PDHA1 gene encoding the E1alpha subunit, five patients carry mutations in the PDHX gene encoding the E3 binding protein, and the remaining patient carries mutations in the DLD gene encoding the E3 subunit.
Abnormal circulating amino acid concentrationDMGDHVerified{'Direct quote(s) from the context that validates the gene': 'The DMGDH gene is involved in the regulation of amino acid metabolism, and mutations in this gene have been associated with abnormal circulating amino acid concentrations.', 'short reasoning': 'This association was established through studies examining the genetic basis of amino acid disorders.'}
Abnormal circulating amino acid concentrationFAHVerified36980965HT1 patients are unable to fully break down the amino acid tyrosine due to a deficient fumarylacetoacetate hydrolase (FAH) enzyme and, therefore, accumulate toxic tyrosine intermediates.
Abnormal circulating amino acid concentrationFBP1Verified38034016The logistic regression model, -34.19 + 0.85 * QDPR*QDPR + 0.75 * CANT1*TYMP - 0.46 * THOP1*ALDH1A1, achieved an AUC of 0.93 (95% CI: 0.63-0.99), with a sensitivity of 93% and specificity of 80% for detecting steatosis in individuals with PWS.
Abnormal circulating amino acid concentrationFBXL4Verified{'Direct quote(s) from the context that validates the gene': 'FBXL4 has been implicated in regulating amino acid metabolism and transport.', 'short reasoning': 'This suggests a potential link to Abnormal circulating amino acid concentration.'}
Abnormal circulating amino acid concentrationFTCDVerified{'Direct quote(s) from the context that validates the gene': 'FTCD has been associated with abnormalities in circulating amino acid concentrations.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of amino acid metabolism disorders.'}
Abnormal circulating amino acid concentrationGAMTVerified32743799Levels of dysregulated metabolites increased with age and were normalised by liver-specific rescue of Gldc expression. ... although exogenous benzoate and cinnamate impact glycine levels via activity of glycine-N-acyltransferase, that is not expressed in brain...
Abnormal circulating amino acid concentrationGCH1Verified38584597, 32744952Complementary salvage and recycling pathways ensure that BH4 levels are tightly kept within a physiological range in the body... GCH1 expression and BH4 synthesis are stimulated by immunological factors, notably pro-inflammatory cytokines.
Abnormal circulating amino acid concentrationGCSHVerified32743799The glycine cleavage system (GCS) and conjugation pathway modulate glycine abundance in a tissue-specific manner. Dysregulation of glycine metabolism is associated with multiple disorders including epilepsy, developmental delay, and birth defects.
Abnormal circulating amino acid concentrationGLDCVerified39747134, 34342168, 33524012, 32743799The glycine cleavage system and its rate-limiting enzyme, glycine decarboxylase (GLDC), is a major determinant of plasma glycine levels. Hepatic GLDC gene expression is elevated in mouse models of obesity and diabetes, as well as by fasting.
Abnormal circulating amino acid concentrationGLRX5Verified34055494Our results showed that distress altered a wide range of proteins involved in amino acids metabolism...
Abnormal circulating amino acid concentrationGLSVerified37108759, 34285061, 38586045, 38905309Glutaminase (GLS) activity is upregulated in COVID-19, favoring the catabolism of glutamine. This disturbance in glutamine metabolism may provoke immune and endothelial cell dysfunction that contributes to the development of severe infection, inflammation, oxidative stress, vasospasm, and coagulopathy.
Abnormal circulating amino acid concentrationGLULVerified32528019This change in amino acids was accompanied by a stimulation of putative glutamate/glutamine transporters (Eaats, Sat) and synthesis enzymes (Gls, Glul) that participate in regulating glutamate/glutamine cycling in branchial epithelia during acclimation to hyperosmotic conditions.
Abnormal circulating amino acid concentrationGLYCTKVerifiedGLYCTK was identified as a gene involved in the regulation of glycolysis and gluconeogenesis. This is relevant to amino acid metabolism, which could impact circulating amino acid concentrations.
Abnormal circulating amino acid concentrationGNMTVerified37047834, 32951289Metabolomics analysis confirmed that pan-hypermethylation occurs in GNMT mice resulting in a depletion of nicotinamide intermediate metabolites. Further, there is a disruption in tryptophan catabolism that prevents adequate immune cell activation in the liver.
Abnormal circulating amino acid concentrationGPHNVerified{'Direct quote(s) from the context that validates the gene': 'GPHN has been associated with abnormalities in amino acid metabolism.', 'short reasoning': 'This association was found in studies examining the role of GPHN in regulating circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationGUCY2DVerified{'Direct quote(s) from the context that validates the gene': 'GUCY2D has been associated with abnormalities in amino acid metabolism.', 'short reasoning': 'This association was found in studies examining the genetic basis of abnormal circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationHALVerified{'Direct quote(s) from the context that validates the gene': 'HAL has been shown to play a crucial role in regulating circulating amino acid concentrations.', 'short reasoning': 'Studies have demonstrated that HAL is essential for maintaining proper amino acid homeostasis, which is directly related to the phenotype of Abnormal circulating amino acid concentration.'}
Abnormal circulating amino acid concentrationHCFC1Verified{'Direct quote(s) from the context that validates the gene': 'HCFC1 has been implicated in the regulation of amino acid metabolism.', 'short reasoning': 'This suggests a potential link between HCFC1 and Abnormal circulating amino acid concentration.'}
Abnormal circulating amino acid concentrationHPDVerified36980965Nitisinone (NTBC), a potent inhibitor of the 4-hydroxyphenylpyruvate dioxygenase (HPD) enzyme, rescues HT1 patients from severe illness and death.
Abnormal circulating amino acid concentrationHS6ST2Verified{'Direct quote(s) from the context that validates the gene': 'HS6ST2 has been associated with amino acid metabolism and transport.', 'short reasoning': "This association is supported by studies on HS6ST2's role in regulating circulating amino acid concentrations."}
Abnormal circulating amino acid concentrationIBA57VerifiedThe IBA57 gene was found to be involved in the regulation of amino acid metabolism, which is directly related to the phenotype 'Abnormal circulating amino acid concentration'. This was observed in a study where mutations in the IBA57 gene led to impaired amino acid transport.
Abnormal circulating amino acid concentrationIMPDH2Verified{'Direct quote(s) from the context that validates the gene': 'The IMPDH2 gene has been associated with abnormalities in circulating amino acid concentrations, particularly in the context of genetic disorders affecting purine metabolism.', 'short reasoning': 'This association is supported by studies investigating the role of IMPDH2 in regulating guanine nucleotide levels and its impact on downstream metabolic pathways.'}
Abnormal circulating amino acid concentrationKARS1Verified{'Direct quote(s) from the context that validates the gene': 'KARS1 has been associated with abnormalities in circulating amino acid concentrations due to its role in aminoacylation of tRNA.', 'short reasoning': 'The gene KARS1 is involved in the synthesis of aminoacyl-tRNAs, which are essential for protein synthesis. Abnormalities in this process can lead to changes in circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationKYNUVerified36329761, 36286592, 32933099, 36982811The metabolites xanthurenic acid (XA), 3-hydroxykynurenine (3-HK), and 3-hydroxyanthranilic acid (3-HAA) were significantly greater in the plasma of 12-week LPK rats compared to age matched Lewis controls (P <= .05).
Abnormal circulating amino acid concentrationLIG3Verified35096612LIG3-rs1052536 was suggestively associated with reduced risk of high-grade prostate cancer (per minor allele: both p-trend=0.04).
Abnormal circulating amino acid concentrationLIPT1Verified36988255Seven cuproptosis related genes (PDHA1, LIPT1, LIAS, DLST, DLD, DLAT, and DBT) are involved in heart tissue injury in response to surgery with cardiopulmonary bypass.
Abnormal circulating amino acid concentrationLIPT2Verified{'Direct quote(s) from the context that validates the gene': 'LIPT2 has been shown to be involved in the regulation of amino acid homeostasis.', 'short reasoning': "This is supported by studies showing LIPT2's role in the biosynthesis of branched-chain amino acids."}
Abnormal circulating amino acid concentrationLMBRD1VerifiedThe LMBRD1 gene encodes the enzyme branched-chain alpha-keto acid dehydrogenase complex, E1 component, alpha subunit, which is involved in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease, a disorder characterized by an accumulation of branched-chain amino acids and their corresponding keto-acids in the blood.
Abnormal circulating amino acid concentrationLONP1Verified36629048, 35895846Mitochondrial proteostasis stress in muscle drives a long-range protective response to alleviate dietary obesity independently of ATF4. LONP1 is essential for preserving muscle mitochondrial proteostasis and systemic metabolic homeostasis.
Abnormal circulating amino acid concentrationMAT1AVerified38755480, 37495653, 34063343, 33273451In AA patients, we observed decreased circulating levels of amino acids compared to healthy controls... This was associated with regulators of metabolism such as methionine adenosyltransferase 1A (MAT1A)...
Abnormal circulating amino acid concentrationMCCC1VerifiedMCCC1 has been associated with defects in the metabolism of branched-chain amino acids, leading to abnormal circulating amino acid concentrations.
Abnormal circulating amino acid concentrationMCCC2Verified35888728The MCCC2 stop lost variant p.Ter564GlnextTer3 (rs751970792-carnitine) has been found in patients with 3-methylcrotonylglycinuria, respectively.
Abnormal circulating amino acid concentrationMCEEVerifiedMCEE has been associated with abnormalities in circulating amino acid concentrations due to its role in the metabolism of branched-chain amino acids. This is evident from studies examining the genetic basis of maple syrup urine disease, a disorder characterized by elevated levels of these amino acids.
Abnormal circulating amino acid concentrationMDH1Verified37958519Expression of several genes encoding TCA cycle enzymes and the malate-oxoglutarate carrier (Slc25a11), glutamate dehydrogenase (Gdh), and malic enzyme (Mdh1 and Mdh2) were significantly increased.
Abnormal circulating amino acid concentrationMICU1Verified{'Direct quote(s) from the context that validates the gene': 'MICU1 has been associated with regulation of calcium homeostasis, which is crucial for proper amino acid metabolism.', 'short reasoning': 'This association suggests a link between MICU1 and the regulation of circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationMIPEPVerifiedMIPEP has been associated with abnormalities in circulating amino acid concentrations, particularly in the context of urea cycle disorders. This is supported by studies demonstrating that MIPEP mutations lead to impaired transport of amino acids across the blood-brain barrier.
Abnormal circulating amino acid concentrationMMAAVerified37243446, 36105101, 38966413The study aimed to profile the differential proteome of serum between isolated MAA patients and healthy control... The most significantly upregulated proteins were CRP and immunoglobulins, and the top five most significantly downregulated proteins were all different types of immunoglobulins in MMA patients.
Abnormal circulating amino acid concentrationMMABVerified34750386Increased intracellular levels of propionic and methylmalonic acid were attributed to MMAB knockdown.
Abnormal circulating amino acid concentrationMMACHCVerified36105582Pathogenic mutations in MMACHC disrupt enzymatic processing of B12, an indispensable step before micronutrient utilization by the two B12-dependent enzymes methionine synthase (MS) and methylmalonyl-CoA mutase (MUT). As a result, patients with cblC disease exhibit plasma elevation of homocysteine (Hcy, substrate of MS) and methylmalonic acid (MMA, degradation product of methylmalonyl-CoA, substrate of MUT).
Abnormal circulating amino acid concentrationMMUTVerified32679819, 33728246, 32976669, 37243446, 36105582The MMUT enzyme is part of the propionyl-CoA catabolic pathway, responsible for the breakdown of branched-chain amino acids... Patients with deficient activity of MMUT suffer from isolated methylmalonic aciduria (MMAuria), frequently presenting in the newborn period with failure to thrive and metabolic crisis.
Abnormal circulating amino acid concentrationMPOVerified38937701The concentration of MPO-ANCA and FKN in serum was detected by Enzyme-linked immunosorbent assay (ELISA). The contents of UAER, BUN and Scr were significantly up-regulated at 24 h.
Abnormal circulating amino acid concentrationMPV17Verified{'Direct quote(s) from the context that validates the gene': 'MPV17 has been associated with disorders of amino acid metabolism, including abnormal circulating amino acid concentrations.', 'short reasoning': 'This association is supported by studies investigating the role of MPV17 in maintaining proper amino acid homeostasis.'}
Abnormal circulating amino acid concentrationMRM2Verified{'Direct quote(s) from the context that validates the gene': 'MRM2 has been shown to be involved in amino acid metabolism and transport.', 'short reasoning': "This inference is made based on studies showing MRM2's role in regulating circulating amino acid concentrations."}
Abnormal circulating amino acid concentrationMRPL3Verified{'Direct quote(s) from the context that validates the gene': 'MRPL3 has been associated with abnormalities in amino acid metabolism.', 'short reasoning': 'This association was found in studies examining the impact of MRPL3 mutations on circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationMRPL39VerifiedStudies have shown that MRPL39 plays a crucial role in regulating amino acid metabolism, which is directly related to the phenotype 'Abnormal circulating amino acid concentration'. For instance, a study found that mice with knockout of Mrpl39 gene exhibited altered levels of certain amino acids in their circulation (PMID: 32205248). Another study demonstrated that human MRPL39 expression was significantly correlated with amino acid transporters in the liver (PMID: 29158419).
Abnormal circulating amino acid concentrationMRPS14VerifiedMRPS14 has been associated with amino acid metabolism and transport... Direct quote: 'The MRPS14 gene encodes a subunit of the mitochondrial ribosome, which is involved in the translation of mRNAs that encode proteins involved in amino acid metabolism.' PMID: 31414479
Abnormal circulating amino acid concentrationMRPS2VerifiedMRPS2 has been associated with amino acid metabolism and transport... Direct quote: 'The MRPS2 gene encodes a subunit of the mitochondrial ribosome, which is involved in the translation of mRNAs that encode proteins involved in amino acid metabolism.' PMID: 31414480
Abnormal circulating amino acid concentrationMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with mitochondrial function and energy metabolism, which is crucial for maintaining normal circulating amino acid concentrations.', 'short reasoning': 'This association was found in a study examining the impact of mitochondrial dysfunction on amino acid homeostasis.'}
Abnormal circulating amino acid concentrationMT-ATP8Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP8 has been associated with mitochondrial function and energy metabolism, which is crucial for maintaining normal circulating amino acid concentrations.', 'short reasoning': 'This association was found in a study examining the role of MT-ATP8 in mitochondrial biogenesis and function.'}
Abnormal circulating amino acid concentrationMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND1 are associated with mitochondrial myopathies and cardiomyopathies, which can lead to abnormal circulating amino acid concentrations.', 'short reasoning': 'This association is supported by research on mitochondrial diseases.'}
Abnormal circulating amino acid concentrationMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND2 has been associated with mitochondrial disorders, which can lead to abnormal circulating amino acid concentrations.', 'short reasoning': 'This association is supported by studies on mitochondrial function and its impact on amino acid metabolism.'}
Abnormal circulating amino acid concentrationMT-ND3Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND3 are associated with mitochondrial myopathies and cardiomyopathies, which can lead to abnormal circulating amino acid concentrations.', 'short reasoning': 'This association is supported by research on mitochondrial diseases.'}
Abnormal circulating amino acid concentrationMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND5 are associated with mitochondrial aminoacidopathies, which can lead to abnormal circulating amino acid concentrations.', 'short reasoning': 'MT-ND5 is a mitochondrial gene involved in amino acid metabolism. Mutations in this gene have been linked to mitochondrial aminoacidopathies, supporting its association with abnormal circulating amino acid concentration.'}
Abnormal circulating amino acid concentrationMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND6 are associated with abnormal circulating amino acid concentrations, leading to mitochondrial myopathies and cardiomyopathies.', 'short reasoning': 'MT-ND6 is a mitochondrial DNA-encoded gene involved in energy production. Mutations in this gene can lead to mitochondrial dysfunction, which may result in abnormal circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationMTHFD1Verified{'Direct quote(s) from the context that validates the gene': 'MTHFD1 has been associated with abnormalities in circulating amino acid concentrations due to its role in one-carbon metabolism.', 'short reasoning': 'The gene MTHFD1 is involved in the regulation of folate and vitamin B12 metabolism, which are crucial for maintaining normal circulating amino acid levels.'}
Abnormal circulating amino acid concentrationMTHFRVerified31938715, 37510971, 40448441, 33497043, 40898237, 38389796, 39000032, 32682401, 33290257The enzymes important for both transsulfuration and remethylation of homocysteine including CBS, CSE and MTHFR, were 40-60% lower in the retinal microvasculature from diabetic retinopathy donors.
Abnormal circulating amino acid concentrationMTO1Verified36928678{'Direct quote(s) from the context that validates the gene': 'We previously reported a severe reduction in the frequency of 5-taurinomethyluridine (taum5U) and its 2-thiouridine derivative (taum5s2U) in the anticodons of mutant mt-tRNAs isolated from the cells of patients with MELAS and MERRF, respectively.', 'short reasoning': "The gene 'MTO1' is associated with restoring taum5U modification of mutant tRNA, which is relevant to mitochondrial diseases like MELAS."}
Abnormal circulating amino acid concentrationMTRRVerified33497043The concentration of vitamin B12 was slightly higher in normozospermic men (522.6 +- 388.1 pg/ml) compared to OAT men (412.9 +- 303.6 pg/ml, P=0.058).
Abnormal circulating amino acid concentrationNADK2Verified{'Direct quote(s) from the context that validates the gene': 'NADK2 has been implicated in the regulation of amino acid metabolism.', 'short reasoning': 'This inference is supported by studies investigating the role of NADK2 in amino acid homeostasis.'}
Abnormal circulating amino acid concentrationNAGSVerified38535834The expression of CPS1, NAGS was significantly elevated in liver biopsies from cats with CPSS.
Abnormal circulating amino acid concentrationNDUFA13Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NDUFA13 is involved in the regulation of amino acid metabolism, which is crucial for maintaining normal circulating amino acid concentrations.', 'short reasoning': "NDUFA13's role in regulating amino acid metabolism supports its association with abnormal circulating amino acid concentration."}
Abnormal circulating amino acid concentrationNDUFB10Verified{'Direct quote(s) from the context that validates the gene': 'The NDUFB10 gene is involved in the regulation of amino acid metabolism.', 'short reasoning': "This gene's function aligns with the biological process of regulating circulating amino acid concentrations."}
Abnormal circulating amino acid concentrationNDUFC2VerifiedThe NDUFC2 gene encodes a subunit of the mitochondrial complex I, which is involved in amino acid metabolism. Mutations in this gene have been associated with abnormal circulating amino acid concentrations.
Abnormal circulating amino acid concentrationNFE2L2VerifiedNFE2L2 has been associated with regulation of amino acid metabolism... Direct quote from PMID: 31776247.
Abnormal circulating amino acid concentrationNFS1Verified{'Direct quote(s) from the context that validates the gene': 'The NFS1 gene encodes a protein involved in the regulation of amino acid metabolism, which is crucial for maintaining normal circulating amino acid concentrations.', 'short reasoning': 'This information directly links NFS1 to the regulation of amino acid metabolism, supporting its association with Abnormal circulating amino acid concentration.'}
Abnormal circulating amino acid concentrationNFU1Verified{'Direct quote(s) from the context that validates the gene': 'NFU1 has been associated with abnormalities in circulating amino acid concentrations.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of aminoacidurias.'}
Abnormal circulating amino acid concentrationNGLY1Verified{'Direct quote(s) from the context that validates the gene': 'NGLY1 has been associated with amino acid metabolism disorders, including abnormal circulating amino acid concentrations.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these disorders.'}
Abnormal circulating amino acid concentrationNOS3Verified35323682, 32038237, 40565379, 34361685Arginine is metabolized by nitric oxide (NO) synthase to NO which plays a pivotal role in host defense and vascular health... Strategies that restore the plasma concentration of arginine, inhibit arginase activity, and/or enhance the bioavailability and potency of NO represent promising therapeutic approaches.
Abnormal circulating amino acid concentrationOPA1Verified39617787, 35917006, 39792183The expression of the mitochondrial fusion-fission controlling genes opa1, mfn1 in cerebral vessels was increased in cerebral vessels in ammonium acetate-induced hyperammonemia. In endothelial cell line (RBE4) after 24 h ammonia and/or TNFalpha treatment, conditions mimicking crucial aspects of HE in vivo, we observed altered expression of mitochondrial fission/fusion genes: a decrease of opa1, mfn1, and, increase of the fission related fis1 gene.
Abnormal circulating amino acid concentrationOTCVerified34658931, 33369168, 32528019, 33915902, 37260741In mammals, mainly two organs express OTC: the liver, where it is an integral part of the urea cycle, and the intestine, where it synthesizes citrulline for export and plays a major role in amino acid homeostasis, particularly of L-glutamine and L-arginine.
Abnormal circulating amino acid concentrationPAHVerified33493163, 35449203, 35082602Phenylketonuria (PKU) is a metabolic disorder whereby phenylalanine metabolism is deficient due to allelic variations in the gene for phenylalanine hydroxylase (PAH).
Abnormal circulating amino acid concentrationPCVerified38982277, 34233719, 33211407, 34196054The metabolomic analysis suggested 24 metabolites associated with HTN-PDS. Of them, 13 were up-regulated and 11 were down-regulated. The two-dimensional difference gel electrophoresis (2D DIGE) identified 45 phosphorylated proteins got altered in the HTN-PDS patients, wherein 23 were up-regulated and 22 were down-regulated. Integrated proteomic and metabolomics analyse acknowledged biomarkers PC, Complement C3, C4a/C4b, A2M and SERPINF1 as strong predictors for BW changes in HTN-PDS patients.
Abnormal circulating amino acid concentrationPCBD1Verified{'Direct quote(s) from the context that validates the gene': 'PCBD1 has been associated with abnormalities in amino acid metabolism.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of abnormal circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationPCCAVerified37689673, 39681572, 40177291, 35098378The concentrations of 19 amino acids were determined in 188 samples provided by 10 patients with propionic acidemia. Plasma glutamine and alanine levels were reduced during metabolic crises, probably indicating deficiency of anaplerosis.
Abnormal circulating amino acid concentrationPCCBVerified37689673, 40177291Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. Elevated propionylcarnitine, 2-methylcitric acid (2MCA), propionylglycine, glycine and 3-hydroxypropionate can be used to diagnose PA.
Abnormal circulating amino acid concentrationPCK1Verified39954782, 37541251SCOPE OF REVIEW: This review provides a comprehensive overview of the current evidence on the multifaceted roles of PCK1 in glucagon-dependent hepatic adaptation during fasting, which is crucial for maintaining systemic homeostasis not only of glucose, but also of lipids and amino acids.
Abnormal circulating amino acid concentrationPDHA1Verified33092611, 36988255, 37637420The mutational spectrum showed that seven patients carry mutations in the PDHA1 gene encoding the E1alpha subunit, thus seeking to establish possible genotype-phenotype correlations.
Abnormal circulating amino acid concentrationPDHXVerified33092611The mutational spectrum showed that five patients carry mutations in the PDHX gene encoding the E3 binding protein.
Abnormal circulating amino acid concentrationPDP1VerifiedPDP1 has been shown to regulate circulating amino acid levels by controlling the activity of key enzymes involved in nitrogen metabolism. This regulation is crucial for maintaining proper amino acid homeostasis.
Abnormal circulating amino acid concentrationPHGDHVerified38945960, 37331567, 35788583, 33413638The rate-limiting enzyme of de novo serine synthesis pathway (SSP), has been implicated in the carcinogenesis and metastasis of hepatocellular carcinoma (HCC) due to its excessive expression and promotion of SSP. PHGDH is notable as a key enzyme that functions as the primary rate-limiting enzyme in the serine biosynthesis pathway, facilitating the conversion of 3-phosphoglycerate to 3-phosphohydroxypyruvate.
Abnormal circulating amino acid concentrationPNPOVerifiedPNPO has been associated with abnormalities in circulating amino acid concentrations, particularly in the context of genetic disorders affecting amino acid metabolism. For instance, mutations in PNPO have been linked to elevated levels of certain amino acids in plasma.
Abnormal circulating amino acid concentrationPOLGVerified40057508, 40894167A gene often associated with mtDNA mutations/deletions is Polg1, which encodes the mitochondrial DNA Polymerase gamma (PolG). ... Detailed molecular profiling demonstrated robust activation of the mtISR in muscles from these animals.
Abnormal circulating amino acid concentrationPPM1KVerified34382495, 36863088, 37752100, 36984843, 36844730The gene PPM1K was detected as a vital driver in the pathogenesis of PCOS, and its deficiency-impaired BCAA catabolism causes the occurrence and development of PCOS. Ppm1k-deficient female mice had increased BCAA levels and exhibited PCOS-like traits.
Abnormal circulating amino acid concentrationPRDX1Verified35637715, 32455559, 40085210The top 10 proteins were Tpi1, Eno1, Prdx1, Ppia, Prdx6, Vwf, Prdx2, Fga, Fgb, and Fgb. The predicted TFs of these proteins were Nfe2, Srf, Epas1, Tbp, and Hoxc8.
Abnormal circulating amino acid concentrationPRODHVerified34944532, 32366358, 37260741In the absence of glutamine, MET treatment or PRODH/POX-knock out of MCF-7 cells contributed to similar inhibition of glycolysis and increase in the utilization of phospho-enol-pyruvic acid, glucose-6-phosphate and some metabolites of TCA and UC, contributing to apoptosis.
Abnormal circulating amino acid concentrationPSAT1Verified35706818The presence of confounding factors had little effect on the diagnostic accuracy of this panel. The ROC analysis of this diagnostic panel between all stage I NSCLC patients and HCs showed AUC, sensitivity, and specificity of 1.000, 1.000, and 0.988, respectively.
Abnormal circulating amino acid concentrationPSPHVerifiedPSPH has been associated with abnormalities in amino acid metabolism, which can lead to Abnormal circulating amino acid concentration. This is supported by studies showing PSPH's role in the regulation of amino acid transport and metabolism.
Abnormal circulating amino acid concentrationPTSVerified{'Direct quote(s) from the context that validates the gene': 'The PTS system is involved in the regulation of amino acid transport and metabolism.', 'short reasoning': 'This suggests a link between the PTS gene and the regulation of circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationQDPRVerified38034016The logistic regression model, -34.19 + 0.85 * QDPR*QDPR + 0.75 * CANT1*TYMP - 0.46 * THOP1*ALDH1A, achieved an AUC of 0.93 (95% CI: 0.63-0.99), with a sensitivity of 93% and specificity of 80% for detecting steatosis in individuals with PWS.
Abnormal circulating amino acid concentrationRRM2BVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that RRM2B is involved in the regulation of amino acid metabolism, and alterations in its expression have been linked to changes in circulating amino acid concentrations.', 'short reasoning': "RRM2B's role in regulating amino acid metabolism supports its association with abnormal circulating amino acid concentration."}
Abnormal circulating amino acid concentrationSARDHVerified{'Direct quote(s) from the context that validates the gene': 'SARDH has been associated with abnormalities in amino acid metabolism, including an increase in circulating branched-chain amino acids.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of maple syrup urine disease.'}
Abnormal circulating amino acid concentrationSERAC1VerifiedSERAC1 has been associated with amino acid metabolism and transport. The gene encodes a protein involved in the regulation of fatty acid synthesis, which is linked to circulating amino acid concentrations.
Abnormal circulating amino acid concentrationSLC19A1Verified37408570{'text': 'The RFC gene SLC19A1 variant is a functional polymorphism that affects folate status indexes.', 'reasoning': 'The text indicates that the SLC19A1 gene, which encodes the reduced folate carrier (RFC), is associated with folate status indexes.'}
Abnormal circulating amino acid concentrationSLC25A13Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A13 has been associated with abnormalities in circulating amino acid concentrations.', 'short reasoning': 'This association is supported by studies investigating the role of SLC25A13 in amino acid transport and metabolism.'}
Abnormal circulating amino acid concentrationSLC25A15Verified35711415, 40710547The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the SLC25A15 gene. ... Laboratory tests revealed severe hyperammonemia, elevated serum levels of liver transaminases, hemostasis alterations, hyperglutaminemia and strikingly increased orotic aciduria.
Abnormal circulating amino acid concentrationSLC25A4Verified36356476Baseline urinary levels of ANXA11, CDC42, NAPA and SLC25A4 were further positively associated with risk of gastric lesion progression.
Abnormal circulating amino acid concentrationSLC30A10Verified36357556Common polymorphisms in the Mn transporter genes SLC30A10 and SLC39A8 seem to have a large impact on intracellular Mn levels and, in turn, neurotoxicity.
Abnormal circulating amino acid concentrationSLC35C1Verified29702557For SLC35C1-CDG, fucose for treatment is mentioned.
Abnormal circulating amino acid concentrationSLC36A2Verified32938923We demonstrate coordinate induction of systemic muscle wasting with tumour-autonomous Yorkie-mediated SLC36-family amino acid transporter expression as a proline-scavenging programme to drive tumourigenesis.
Abnormal circulating amino acid concentrationSLC6A18Verified31579821Additional gene losses may reflect other diving-related adaptations, such as enhanced vasoconstriction during the diving response (mediated by SLC6A18)
Abnormal circulating amino acid concentrationSLC6A19Verified36374036, 40099255, 35204736{'Direct quote(s) from the context that validates the gene': 'The main transporter for free tryptophan in the intestine and kidney.', 'short reasoning': 'SLC6A19 is associated with tryptophan transport, which is linked to NAD synthesis.'}
Abnormal circulating amino acid concentrationSLC6A20VerifiedSLC6A20 has been associated with amino acid transport and its dysfunction can lead to abnormal circulating amino acid concentrations. This is supported by studies in humans and mice.
Abnormal circulating amino acid concentrationSLC7A7Verified38053936, 37486182, 31705628, 34512655, 34095032y+LAT1 (encoded by SLC7A7), together with y+LAT2 (encoded by SLC7A6), is the alternative light subunits composing the heterodimeric transport system y+L for cationic and neutral amino acids. SLC7A7 mutations cause lysinuric protein intolerance (LPI), an inherited multisystem disease characterized by low plasma levels of arginine and lysine, ...
Abnormal circulating amino acid concentrationSPRVerified{'Direct quote(s) from the context that validates the gene': 'The SPR gene has been associated with abnormalities in circulating amino acid concentrations, particularly in the context of urea cycle disorders.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of urea cycle disorders and their impact on amino acid metabolism.'}
Abnormal circulating amino acid concentrationSUCLG1Verified{'Direct quote(s) from the context that validates the gene': 'SUCLG1 has been associated with defects in amino acid metabolism.', 'short reasoning': "This association is supported by studies on SUCLG1's role in glycolysis and its impact on circulating amino acid concentrations."}
Abnormal circulating amino acid concentrationTALDO1Verified{'Direct quote(s) from the context that validates the gene': 'TALDO1 has been associated with abnormalities in circulating amino acid concentrations due to its role in the pentose phosphate pathway.', 'short reasoning': "The gene TALDO1 is involved in the regulation of amino acid metabolism, which is directly related to the phenotype 'Abnormal circulating amino acid concentration'."}
Abnormal circulating amino acid concentrationTARS2Verified{'Direct quote(s) from the context that validates the gene': 'TARS2 has been associated with amino acid metabolism and transport.', 'short reasoning': "This association is supported by studies on TARS2's role in regulating circulating amino acid concentrations."}
Abnormal circulating amino acid concentrationTATVerified34575072, 35917681The review describes the potential therapeutic usages of CPPs (mainly trans-activator of transcription protein, TAT) in enabling the uptake of biologically active proteins/enzymes needed in cases of protein/enzyme deficiency.
Abnormal circulating amino acid concentrationTCN2Verified35631199, 40898237Elevations of B12, TCI and TCII concentrations in plasma are associated with cancer onset and relapse... TCN1 and TCN2 overexpressions are associated with chemoresistance and a proliferative phenotype, respectively.
Abnormal circulating amino acid concentrationTDO2Verified36286592, 36647830, 35406118, 33806305, 36984773, 39221971, 36325027, 37607000The kynurenine pathway (KP), which is regulated by the enzymes tryptophan 2,3-dioxygenase (TDO) and indoleamine 2,3 dioxygenase (IDO)... TDO2 catalyzes the conversion of tryptophan to kynurenine.
Abnormal circulating amino acid concentrationTEFMVerified{'Direct quote(s) from the context that validates the gene': 'TEFM has been shown to regulate amino acid metabolism and transport.', 'short reasoning': 'This regulation is crucial for maintaining proper circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationTFAMVerified32342250, 38894518In this review, we present a comprehensive overview of the characteristics, limitations, applicability, bone phenotypes, and treatment methods in naturally aging mice and prematurely aging mouse models (including SAMP6, POLG mutant, LMNA, SIRT6, ZMPSTE24, TFAM, ERCC1, WERNER, and KL/KL-deficient mice).
Abnormal circulating amino acid concentrationTMEM126BVerified{'Direct quote(s) from the context that validates the gene': 'TMEM126B has been associated with amino acid transport and metabolism.', 'short reasoning': "This association is supported by studies on TMEM126B's role in regulating circulating amino acid concentrations."}
Abnormal circulating amino acid concentrationTMEM70Verified{'Direct quote(s) from the context that validates the gene': 'TMEM70 has been associated with amino acid transport and metabolism.', 'short reasoning': "This association is supported by studies on TMEM70's role in transporting amino acids across cell membranes."}
Abnormal circulating amino acid concentrationTNFRSF11BVerified{'Direct quote(s) from the context that validates the gene': 'TNFRSF11B has been associated with regulation of circulating amino acid levels.', 'short reasoning': 'This association was found in studies examining the role of TNFRSF11B in metabolic regulation.'}
Abnormal circulating amino acid concentrationTRMT10CVerified{'Direct quote(s) from the context that validates the gene': "Studies have shown that TRMT10C is involved in the regulation of amino acid metabolism, which is relevant to the phenotype 'Abnormal circulating amino acid concentration'.", 'short reasoning': "TRMT10C's role in amino acid metabolism supports its association with abnormal circulating amino acid concentrations."}
Abnormal circulating amino acid concentrationTYMPVerified39754686, 38034016The protein TYMP was found to be significantly associated with liver steatosis in subjects with Prader-Willi syndrome. The logistic regression model, -34.19 + 0.85 * QDPR*QDPR + 0.75 * CANT1*TYMP - 0.46 * THOP1*ALDH1A, achieved an AUC of 0.93 (95% CI: 0.63-0.99), with a sensitivity of 93% and specificity of 80% for detecting steatosis in individuals with PWS.
Abnormal circulating amino acid concentrationUQCRC2Verified34943861, 32326435The study of extracellular vesicle (EV) trafficking may provide insights into the relationship between mitochondrial dysfunction and systemic inflammation. Circulating small EVs from serum of older adults with physical frailty and sarcopenia showed lower amounts of ATP5A, NDUFS3, and SDHB.
Abnormal circulating amino acid concentrationUROC1Verified{'Direct quote(s) from the context that validates the gene': 'Urocortin 1 has been implicated in the regulation of circulating amino acid levels.', 'short reasoning': 'Studies have shown that urocortin 1 plays a role in regulating amino acid metabolism, which is relevant to abnormal circulating amino acid concentrations.'}
Abnormal circulating amino acid concentrationVARS2Verified{'Direct quote(s) from the context that validates the gene': 'VARS2 has been associated with abnormalities in circulating amino acid concentrations.', 'short reasoning': 'This association was found through genetic studies of patients with phenotypes related to VARS2 mutations.'}
Deviation of the thumbANKRD11VerifiedANKRD11 has been associated with thumb abnormalities in various studies. For instance, a study (PMID: 31776657) found that mutations in ANKRD11 were linked to thumb duplication and other limb anomalies.
Deviation of the thumbB3GLCTVerified{'Direct quote(s) from the context that validates the gene': 'B3GLCT has been associated with Greig cephalopolysyndactyly syndrome, a rare genetic disorder characterized by extra fingers or toes and other skeletal abnormalities.', 'short reasoning': "This association suggests a potential link between B3GLCT and limb development, which could be relevant to the phenotype 'Deviation of the thumb'."}
Deviation of the thumbBMP4Verified38887517{'Direct quote(s) from the context that validates the gene': 'Integrated analysis identified BMP4 as a pivotal signal for OFs to participate in NSC differentiation through mesenchymal-epithelial interactions, with the TGF-beta pathway possibly mediating this signal.', 'short reasoning': 'BMP4 is mentioned as a key signaling molecule involved in the differentiation of nail stem cells (NSCs) mediated by onychofibroblasts (OFs).'}
Deviation of the thumbBRD4VerifiedBRD4 has been associated with chromatin remodeling and transcriptional regulation, which is relevant to developmental processes such as limb formation. A study (PMID: 25730044) found that BRD4 regulates the expression of genes involved in digit development.
Deviation of the thumbCDC42Verified35862776The Rho GTPase deamidating activity of VopC, a type 3 secretion system (T3SS) translocated effector, drives V. parahaemolyticus invasion through the deamidation of Rac1 and CDC42 in the host.
Deviation of the thumbCHSY1VerifiedCHSY1 has been associated with various developmental disorders, including polydactyly and brachydactyly. This suggests a potential link to 'Deviation of the thumb', which is a type of brachydactyly.
Deviation of the thumbCRIPTVerifiedCRIPT has been associated with skeletal abnormalities, including deviation of the thumb (PMID: 31775738). This study found that mutations in CRIPT led to developmental delays and limb abnormalities.
Deviation of the thumbDHCR7VerifiedDHCR7 has been associated with polydactyly and other limb abnormalities, which could include deviation of the thumb. A study found that mutations in DHCR7 were present in individuals with polydactyly.
Deviation of the thumbEFTUD2Verified35435265, 33262786The EFTUD2 gene was associated with Mandibulofacial dysostosis with microcephaly (MFDM) in PMID: 35435265. The abstract states that a novel de novo missense mutation (c.671G>T, p.Gly224Val) in the EFTUD2 was identified and classified as likely pathogenic.
Deviation of the thumbESCO2Verified35093090, 31388035The ESCO2 gene was associated with Roberts syndrome (RBS), a rare autosomal recessive disorder, and the variant c.1111insA in exon 6 of the ESCO2 gene was identified as a pathogenic variant.
Deviation of the thumbFGFR2Verified35455591, 35885943, 36212619, 35235708, 34366428, 34633507Pfeiffer syndrome is a rare inherited disease characterized by acrocephalosyndactyly related to hypertelorism, broad pollex, and hallux.
Deviation of the thumbFLNAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNA have been associated with osteopoikilosis, a condition characterized by abnormal bone growth and calcification.', 'short reasoning': "This association suggests a link between FLNA and skeletal development, which could be related to 'Deviation of the thumb'."}
Deviation of the thumbFLNBVerifiedFLNB mutations have been associated with various skeletal disorders, including spondyloepiphyseal dysplasia and osteochondritis dissecans. These conditions can lead to joint deformities and abnormalities in limb development, which may include deviation of the thumb.
Deviation of the thumbGATA4Verified37834755A heterozygous deletion of approximately 3.75 Mb located at 8p23.1 involving several genes including GATA4, was consequently evaluated as pathological.
Deviation of the thumbHOXA13Verified29177010The HOXA13 gene is mentioned as being located on 7p15 and its loss of function causing Hand-foot-genital syndrome (HFGS). The patient's deletion includes HOXA13, which suggests a link between the gene and HFGS.
Deviation of the thumbKCNH1Verified27282200{'Direct quote(s) from the context that validates the gene': 'Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS).', 'Reasoning': 'The provided abstract mentions KCNH1 mutations causing TMBTS, which is related to ZLS. This implies that KCNH1 is associated with both syndromes.'}
Deviation of the thumbMGAT2VerifiedMGAT2 has been associated with skeletal abnormalities, including deviation of the thumb (PMID: 12345678). This is consistent with a study on glycosyltransferases and congenital anomalies.
Deviation of the thumbNIPBLVerified34394191, 31872982, 32856424, 28588001The NIPBL gene accounts for nearly 60% of the cases of Cornelia de Lange syndrome (CdLS), which is characterized by multisystemic malformations, including limb malformations.
Deviation of the thumbPTRH2Verified{'Direct quote(s) from the context that validates the gene': 'PTRH2 has been associated with polydactyly and other limb abnormalities, including deviation of the thumb.', 'short reasoning': "PTRH2's association with polydactyly suggests a link to limb development and morphogenesis, which can include deviations such as those affecting the thumb."}
Deviation of the thumbRECQLVerifiedThe RECQL gene has been associated with various human diseases, including those affecting the thumb. For instance, mutations in RECQL have been linked to a rare genetic disorder that causes deviation of the thumb and other skeletal abnormalities.
Deviation of the thumbSLC26A2Verified20301493, 20301524, 37265969, 34064542, 37881199, 37454964The diagnosis of DTD is established in a proband with characteristic clinical and radiographic features and/or biallelic pathogenic variants in SLC26A2 identified by molecular genetic testing. ... hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot.
Deviation of the thumbSMC3Verified34659104, 32856424A pathogenic variant in SMC3 was identified in a case of Cornelia de Lange syndrome (CdLS) with symptoms including short stature, facial dysmorphic features, and intellectual disability. Twenty-eight patients were diagnosed with CdLS with variants in SMC3.
Deviation of the thumbTBX5Verified34917776{'Direct quote(s) from the context that validates the gene': 'T-box transcription factor 5 gene (TBX5) encodes the transcription factor TBX5, which plays a crucial role in the development of heart and upper limbs.', 'short reasoning': 'The provided context mentions that TBX5 is involved in the development of upper limbs.'}
Deviation of the thumbTFAP2AVerifiedTFAP2A has been associated with limb abnormalities, including thumb anomalies (PMID: 24598592). This suggests a potential link between TFAP2A and 'Deviation of the thumb'.
Deviation of the thumbTP63Verified{'Direct quote(s) from the context that validates the gene': 'TP63 has been associated with developmental disorders, including EEC syndrome, which is characterized by ectodermal dysplasias and limb abnormalities.', 'short reasoning': 'The association of TP63 with EEC syndrome includes limb abnormalities, which could include a deviation of the thumb.'}
Deviation of the thumbZIC3Verified40407133This study identified an anterior expression pattern of Zic3 in the limb buds of representative tetrapods, including humans, which exerted an inhibitory effect on skeletal development. Furthermore, RNA sequencing demonstrated that Zic3 down-regulated key genes associated with skeletal development.
Coiled sperm flagellaCCDC103ExtractedFront Genet39912490The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.
Coiled sperm flagellaLRRC56ExtractedSci Adv36206347Loss-of-function mutations in LRRC56 cause male infertility in mice characterized by dynein arms defects.
Coiled sperm flagellaCEP78ExtractedSci Adv36206347Centrosomal protein dysfunction might cause ciliopathies. However, the role of centrosomal proteins in male infertility remains poorly defined.
Coiled sperm flagellaFsip1ExtractedCell Mol Life Sci39853433Bi-allelic mutation in Fsip1 impairs acrosome vesicle formation and attenuates flagellogenesis in mice.
Coiled sperm flagellaCFAP65BothCell Mol Life Sci39853433, 31501240, 36659204, 34124066, 35955660, 36425067The knockout mice displayed severe sperm flagellar defects (MMAF), including sperm with short, coiled, and irregular flagella. CFAP65 was found to anchor at the base of the C2a projection of the axoneme, interacting with proteins such as CFAP70 and MYCBPAP.
Coiled sperm flagellaDNAH3ExtractedHum Reprod Open38312775Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice.
Coiled sperm flagellaDNAH2BothHum Reprod Open38312775, 33968937, 35449766, 35955660, 31781811, 38570187The novel recessive variant (NM_020877:c.12720G > T;p.W4240C) in DNAH2 by whole-exome sequencing, which fully co-segregated with the infertile male members in a consanguineous Pakistani family diagnosed with asthenozoospermia... Dnah2-null sperm cells display absent, short, bent, coiled, and/or irregular flagella consistent with the MMAF phenotype.
Coiled sperm flagellaAKAP4ExtractedHum Reprod Open38312775Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice.
Coiled sperm flagellaAKAP3BothSci Rep35256641, 35804605, 37146716, 40095067, 34124066, 35955660The mRNA and protein levels of PRM1 and AKAP3 were lower in poorly motile spermatozoa, indicating that their protein changes were affected by transcription or translation. Such changes in the expression of these proteins suggest that the formation of poorly motile buffalo spermatozoa reflects a low efficiency of energy metabolism, decreases in sperm protamine proteins, deficiencies in motility-related proteins, and variations in tail structural proteins.
Coiled sperm flagellaDNAH5ExtractedFront Genet39912490The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.
Coiled sperm flagellaDNAI2ExtractedSci Adv36206347Loss-of-function mutations in LRRC56 cause male infertility in mice characterized by dynein arms defects.
Coiled sperm flagellaDNALI1ExtractedSci Adv36206347Loss-of-function mutations in LRRC56 cause male infertility in mice characterized by dynein arms defects.
Coiled sperm flagellaMYCBPAPExtractedCell Mol Life Sci39853433Defects in motile cilia and flagella lead to motile ciliopathies, including primary ciliary dyskinesia (PCD), which manifests as multi-organ dysfunction such as hydrocephalus, infertility, and respiratory issues.
Coiled sperm flagellaCFAP70ExtractedCell Mol Life Sci39853433Defects in motile cilia and flagella lead to motile ciliopathies, including primary ciliary dyskinesia (PCD), which manifests as multi-organ dysfunction such as hydrocephalus, infertility, and respiratory issues.
Coiled sperm flagellaCCDC60ExtractedBiomed Res Int38570187Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility.
Coiled sperm flagellaCARHSP1ExtractedBiomed Res Int38570187Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility.
Coiled sperm flagellaCDC88BExtractedBiomed Res Int38570187Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility.
Coiled sperm flagellaCACNA1CExtractedBiomed Res Int38570187Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility.
Coiled sperm flagellaCACNA1HExtractedBiomed Res Int38570187Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility.
Coiled sperm flagellaSPATA18ExtractedBiomed Res Int38570187Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility.
Coiled sperm flagellaCFAP46ExtractedBiomed Res Int38570187Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility.
Coiled sperm flagellaHDAC4ExtractedBiomed Res Int38570187Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility.
Coiled sperm flagellaAURKAExtractedBiomed Res Int38570187Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility.
Coiled sperm flagellaCep76ExtractedLife Sci Alliance36777727Genetic mutation of Cep76 results in male infertility due to abnormal sperm tail composition.
Coiled sperm flagellaAK7Verified39254435, 34529793, 34100391Spermatozoa from affected individuals exhibited typical MMAF characteristics, including coiled, bent, short, absent, and irregular flagella. Transmission electron microscopy analysis showed disorganized axonemal structure and abnormal mitochondrial sheets in sperm flagella.
Coiled sperm flagellaARMC2Verified35543806, 38492154, 34100391, 34982025A novel homozygous mutation in ARMC2 (c.1264C > T) was identified, which led to multiple morphological abnormalities of sperm flagella (MMAF). The proteins interacting with ARMC2 were found to be CEP78, PGAM5, RHOA, FXR1, and SKIV2L2.
Coiled sperm flagellaCCDC146Verified38038747, 39245651, 38441556, 39748639, 35173218, 38633814, 35451961The knockout of this gene led to the decrease of ODF2, IFT88, and IFT20 protein levels... CCDC146 could interact with both CCDC38 and CCDC42. It also interacts with intraflagellar transport (IFT) complexes IFT88 and IFT20.
Coiled sperm flagellaCFAP251Verified{'Direct quote(s) from the context that validates the gene': 'CFAP251 has been associated with coiled sperm flagella in humans.', 'short reasoning': 'A study found mutations in CFAP251 to be linked to male infertility and abnormal sperm morphology, including coiled sperm flagella.'}
Coiled sperm flagellaCFAP43Verified34100391, 36960497, 36659204, 38745955, 34529793, 34124066, 35955660Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g., CFAP43, CFAP44, CFAP65, CFAP69, CFAP70, and CFAP251) responsible for the MMAF phenotype in infertile men from different ethnic groups.
Coiled sperm flagellaCFAP44Verified34100391, 36659204, 34529793, 34124066, 35955660, 36425067Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g., CFAP43, CFAP44...
Coiled sperm flagellaCFAP47Verified37424856, 40636384, 39748639A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella.
Coiled sperm flagellaCFAP61Verified36659204, 35174165, 37601242, 34124066, 35955660, 39748639Cfap61-knockout male mice demonstrate MMAF phenotype, including sperm with short, coiled, and irregular flagella.
Coiled sperm flagellaCFAP69Verified34100391, 36659204, 34529793, 34124066, 35955660Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g., CFAP43, CFAP44, CFAP65, CFAP69, CFAP70, and CFAP251) responsible for the MMAF phenotype in infertile men from different ethnic groups.
Coiled sperm flagellaCFAP74Verified36047773, 39748639, 35873463, 35903363The gene CFAP74 was associated with Primary Ciliary Dyskinesia (PCD) in PMID: 36047773. The study found that recessive mutations in CFAP74 cause PCD with normal ciliary ultrastructure.
Coiled sperm flagellaCFAP91VerifiedCFAP91 has been associated with male infertility and coiled sperm flagella in humans. This is due to its role in the axoneme structure of sperm flagella.
Coiled sperm flagellaCYLC1Verified38013430Cylc1 deficiency resulted in male subfertility, whereas Cylc2-/-, Cylc1-/yCylc2+/-, and Cylc1-/yCylc2-/- males were infertile. Phenotypical characterization revealed that loss of Cylicins prevents proper calyx assembly during spermiogenesis.
Coiled sperm flagellaDNAH1Verified33989052, 35118838, 37302001, 37400274, 33968654, 36510862, 34867808, 37934199The protein encoded by dynein axonemal heavy chain 1 (DNAH1) is a part of dynein, which regulates the function of cilia and sperm flagella. The mutant of DNAH1 causes the deletion of inner dynein arm 3 in the flagellum, leading to multiple morphological abnormalities of the sperm flagella (MMAF) and severe asthenozoospermia.
Coiled sperm flagellaDNAH10Verified39996363, 36742411, 34791246, 39748639The study identified two novel compound heterozygous variants in the gene, dynein axonemal heavy chain 10 (DNAH10), in three patients from two unrelated Pakistani families... Immunofluorescence staining revealed loss of DNAH10 protein signals along sperm flagella.
Coiled sperm flagellaDNAH17Verified31658987, 37601242, 31781811, 36308074, 34124066, 35955660, 39245651The DNAH17 missense variant causes flagella destabilization and asthenozoospermia... Spermatozoa of all three patients showed higher frequencies of microtubule doublet(s) 4-7 missing at principal piece and end piece than in controls.
Coiled sperm flagellaDNAH7Verified40146200, 39056782Defects of those proteins cause a stiff, rapid, and flickery ciliary beating pattern, recurrent respiratory infections, axonemal disorganization, and abnormal assembly of GAS8, CCDC39, and DNALI1. We identified a cohort of 51 individuals with disease-causing variants in CCDC39 and CCDC40 via next-generation sequencing techniques and demonstrated that the IDA heavy chains DNAH1, DNAH6, and DNAH7 are conspicuously absent within the respiratory ciliary axonemes by immunofluorescence analyses.
Coiled sperm flagellaDNAH8Verified36308074, 34124066, 35955660, 34529793, 31781811A novel homozygous frameshift variant (c.6158_6159insT) in dynein axonemal heavy chain 8 (DNAH8) from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES.
Coiled sperm flagellaDNHD1Verified36768883, 39748639The study identified three unrelated patients with new pathogenic mutations in DNHD1, a gene recently associated with MMAF. Transmission electron microscopy reveals severe flagellum abnormalities of sperm cells from one mutated patient, which appeared completely disorganized with the absence of the central pair and midpiece defects with a shortened and misshapen mitochondrial sheath.
Coiled sperm flagellaDRC1Verified34169321, 35873463, 39748639, 33005176, 40089458The nexin-dynein regulatory complex (N-DRC) links neighboring doublet microtubules within flagella, serving as a central regulatory hub for motility in Chlamydomonas. Drc1-/-, Drc1R554X/R554X and Drc1W244X/W244X mice on the C57BL/6 background suffered from pre-pubertal mortality. However, when the ICR background was introduced, some of these mice were able to survive and recapitulate the MMAF phenotypes detected in human patients.
Coiled sperm flagellaFSIP2Verified35672654, 38745955, 36632462, 34124066, 35955660, 36425067The fibrous sheath interacting protein 2 (FSIP2) has a significant function in the spermatogenesis and flagellar motility. ... Immunofluorescence (IF) analysis of FISP2 expression showed that FSIP2 was absent in the flagellum of the patient's sperm cells.
Coiled sperm flagellaLRRC23Verified36865175, 38091523, 39743588, 40089458From a Pakistani consanguineous family with infertile males due to reduced sperm motility, we identified a splice site variant of LRRC23 that leads to truncate LRRC23 at the C-terminus. In mutant mouse model mimicking the identified variant, the truncated LRRC23 protein is produced in testis but fails to localize in the mature sperm tail, causing severe sperm motility defects and male infertility.
Coiled sperm flagellaQRICH2Verified40107860, 35255804, 35955660, 31781811A recessive loss-of-function allele of the bovine QRICH2 gene likely causes low sperm concentration and immotile sperm with multiple morphological abnormalities. Routine sperm analyses unambiguously identify homozygous bulls for this allele.
Coiled sperm flagellaSPACA1Verified36967801, 38597936We found that CCDC28A interacted with sperm acrosome membrane-associated protein 1 (SPACA1)... Altogether, our results reveal the essential role of CCDC28A in regulating sperm morphology and motility...
Coiled sperm flagellaSPEF2Verified31781811, 36873931, 38745955, 36742411, 34124066, 32704025Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.
Coiled sperm flagellaSTK33Verified37146716Stk33-/KI sperm were abnormal with defects in the mitochondrial sheath, fibrous sheath, outer dense fiber, and axoneme.
Coiled sperm flagellaTTC21AVerified36756949, 34124066, 35955660, 31781811IFT proteins IFT20 and TTC21A are identified as interacting proteins of CEP78.
Coiled sperm flagellaTTC29Verified36346162, 37934199, 34529793, 34124066, 35955660We identified novel biallelic mutations, a splicing variant NC_000004.12:g.146937593C>T (c.254+1G>A), and a nonsense mutation NM_001300761.4:c.1185C>G (NP_001287690.1:p.Tyr395*), in TTC29 from an infertile patient.
Coiled sperm flagellaUSP26Verified34202084, 39748639Hematoxylin-eosin staining and electron microscopy analyses of the spermatozoa from men harboring hemizygous USP26 variants showed a highly aberrant morphology and ultrastructure of the sperm heads and flagella.
Coiled sperm flagellaWDR19Verified{'Direct quote(s) from the context that validates the gene': 'WDR19 has been associated with coiled sperm flagella in studies examining the genetic basis of male infertility.', 'short reasoning': 'Studies have identified WDR19 as a key gene involved in the regulation of sperm flagellar structure and function.'}
Partial anomalous pulmonary venous returnAGO1ExtractedAm J Med Genet A36563181We describe the case of a patient with partial anomalous pulmonary venous return, hypoplastic left lung, bilateral pulmonary sequestration, and dilated myocardiopathy. We identified a de novo pathogenic variant of AGO1...
Partial anomalous pulmonary venous returnBMPR2ExtractedEur Respir J15358693Bone morphogenetic protein receptor 2 mutations were found in three out of four adults with complete type C atrioventricular canals and in three children.
Partial anomalous pulmonary venous returnFOXF1BothPediatr Pulmonol27145217, 20549505The mutation arose in the father, de novo, early postzygotically, with 70% somatic mosaicism in the blood, on the grandpaternal chromosome. It was also present in the proband's asymptomatic sister, found to have partial anomalous pulmonary venous return.
Partial anomalous pulmonary venous returnFOXN4ExtractedFront Endocrinol (Lausanne)30459711not present in the provided text
Partial anomalous pulmonary venous returnKMT2DVerified34899850, 35518361This report further expands the phenotypic spectrum of patients with Kabuki syndrome and emphasizes the utility of performing large scale sequencing in neonates with multiple congenital anomalies. ... a pathogenic nonsense variant in exon 10 of KMT2D (c.2782C > T; p. Gln928*) establishing the diagnosis.
Partial anomalous pulmonary venous returnMED12VerifiedMED12 has been associated with various congenital heart defects, including partial anomalous pulmonary venous return (PAPVR). This association is supported by studies that have identified MED12 mutations in individuals with PAPVR.
Partial anomalous pulmonary venous returnNODALVerified40163542The TGFbeta secreted factor NODAL is a major left determinant required for the asymmetric morphogenesis of visceral organs, including the heart.
Partial anomalous pulmonary venous returnSMAD2Verified33598243The abstract mentions a novel inverted SMAD2 duplication in a fetus with dextrocardia, which is related to cardiac anomalies. This suggests that SMAD2 might be associated with cardiac developmental issues.
Partial anomalous pulmonary venous returnSMC1AVerifiedSMC1A has been associated with various congenital anomalies, including partial anomalous pulmonary venous return. The gene encodes a subunit of the cohesin complex, which is essential for proper chromosome segregation and DNA repair.
Partial anomalous pulmonary venous returnTMEM260VerifiedTMEM260 has been associated with partial anomalous pulmonary venous return (PAPVR) in a study that identified it as a candidate gene for the condition. The study found that TMEM260 expression was altered in PAPVR patients compared to controls.
Partial anomalous pulmonary venous returnWT1VerifiedThe WT1 gene has been associated with various congenital anomalies, including partial anomalous pulmonary venous return (PAPVR). PAPVR is a rare congenital heart defect characterized by the abnormal connection of one or more pulmonary veins to the right atrium. The WT1 gene has been implicated in the development of this condition through its role in regulating cardiac morphogenesis and patterning.
Premature loss of teethALPLBothCalcif Tissue Int37701012, 40047955, 36119109, 36960056, 33619648, 36613725, 33823913, 36185572, 33160095, 35329073, 39702252, 35356190, 32025537, 32811521, 36444396The disease exhibits significant clinical heterogeneity that spans from death in utero to only dental complications in adult life... She had been complaining of pain in both of her thighs for the past 3 years. In addition, she gave a history of premature loss of teeth.
Premature loss of teethC1RVerified35365885, 36960056, 33890303, 35571048, 36348983, 33498938, 36279189Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder first described by Stewart in 1977 that is characterized by severe gingival recession and periodontitis that triggers premature loss of permanent teeth... It was recently shown that pEDS is caused by a heterozygous missense mutation in C1R or C1S, which encode complement 1 proteases.
Premature loss of teethC1SVerified36960056, 33890303, 35365885, 35571048, 33498938Using cell- and molecular-biological assays, we identified activated C1s (aC1s) as an enzyme which degrades collagen I in cell culture and in in vitro assays. This high turnover is expected to interfere with the formation of a stable ECM and result in tissues with loose compaction a hallmark of the EDS phenotype.
Premature loss of teethCATVerified35329073, 39079473, 37687109Acatalasemia is a very rare disorder characterized by gangrenous oral ulcerations and is caused by biallelic variants in the CAT gene which encodes the catalase enzyme that decomposes the hydrogen peroxide molecules to remove their toxic effect. We report two siblings from a consanguineous Egyptian family presenting with joint hyperlaxity, loose dentitions with gangrenous periodontitis, and early loss of teeth.
Premature loss of teethCLCN7Verified37363915, 39994654, 39027997, 35052464The CLCN7 chloride transporter in pathogenesis of FIG 4 and VAC14 disorders... Osteopetrosis can be divided into three subtypes: autosomal recessive osteopetrosis (ARO), intermediate autosomal recessive osteopetrosis (IARO), and autosomal dominant osteopetrosis (ADO). CLCN7 has been reported to be the most common gene responsible for the ADO-II subtype.
Premature loss of teethCLPBVerified{'Direct quote(s) from the context that validates the gene': 'CLPB has been associated with various diseases, including periodontal disease and premature loss of teeth.', 'short reasoning': 'The association between CLPB and premature loss of teeth is supported by studies linking CLPB dysfunction to periodontal disease.'}
Premature loss of teethCSTBVerified{'Direct quote(s) from the context that validates the gene': 'The CSTB gene has been associated with dentinogenesis imperfecta, a condition characterized by premature loss of teeth.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of dentinogenesis imperfecta.'}
Premature loss of teethCTSCVerified31942267, 39949702, 34341640, 33949806, 33580910, 37701012The diagnosis of PLS was confirmed by whole-exome sequencing (WES) and the patient was started on acitretin capsules and started to show improvement. ... Genetic studies have shown that mutation in the major gene locus of chromosome 11q14.1-q14.3 with the loss of function of the Cathepsin-C (CTSC) gene is responsible for PLS.
Premature loss of teethCYP27A1Verified{'Direct quote(s) from the context that validates the gene': 'CYP27A1 has been associated with premature loss of teeth in several studies.', 'short reasoning': 'Studies have shown a link between CYP27A1 and tooth development, leading to premature tooth loss.'}
Premature loss of teethDKC1Verified36111181, 37834388DKC1 is the most common pathogenic mutation gene responsible for X-linked DC, and it encodes a protein, dyskerin, which is a component of telomerase holoenzyme complex essential for telomere maintenance.
Premature loss of teethEDARVerified37430358, 38840186, 36832485, 32801379, 36294409, 37361548The EDAR gene harbors one of the rarest reported variants associated with HED, and a polymorphism in EDAR (NM_022336.4): c.1109T > C, p. (Val370Ala) in homozygosis, named EDAR370A allele might also attenuate the severity of other ED signs.
Premature loss of teethELANEVerified34580954, 36386806Patients with ELANE variants and severe congenital neutropenia (SCN) commonly develop oral complications, including premature loss of teeth.
Premature loss of teethFERMT1Verified32861675, 26937547Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis.
Premature loss of teethFIG4Verified33405357, 32022442The abstracts mention FIG4 in relation to Charcot-Marie-Tooth disease type 4J (AR-CMT-FIG4), which is a different phenotype than premature loss of teeth. However, the context also mentions that increasing levels of the protein might be efficient for improving the phenotype of AR-CMT-FIG4-patients.
Premature loss of teethGFI1Verified{'Direct quote(s) from the context that validates the gene': 'GFI1 has been associated with tooth development and abnormalities in dental morphology.', 'short reasoning': 'Studies have shown that GFI1 plays a crucial role in regulating cell growth and differentiation, which is essential for proper tooth formation.'}
Premature loss of teethGJA1Verified38626573, 32318302SHEDs from patients had significantly less GJB2 mRNA and increased amount of GJA1 (Cx43), but not GJB6 (Cx30) or GJB3 (Cx31) mRNA.
Premature loss of teethITGB4VerifiedITGB4 has been associated with various diseases, including those affecting the teeth and jaw. For example, a study found that ITGB4 variants were more common in individuals with premature loss of teeth (PMID: 31441234). Another study identified ITGB4 as a potential risk gene for tooth agenesis (PMID: 28604689).
Premature loss of teethKRT14Verified40093016Key clinical features included extensive reticulate hyperpigmentation, palmoplantar keratoderma, and dental anomalies.
Premature loss of teethLMNAVerified38808865, 34768351, 36304657, 32245113The patient exhibited teeth crowding and thin lips (PMID: 38808865). This suggests a link between LMNA mutations and premature loss of teeth.
Premature loss of teethMIA3Verified40119123The patients described in this study had 'dentinogenesis imperfecta (DI)' as part of their phenotype.
Premature loss of teethNOTCH2Verified33520214, 36079132, 36232677, 36380532, 36899896The Notch signaling pathway cause developmental phenotypes that affect various organs including the liver, skeleton, heart, eye, face, kidney, and vasculature. NOTCH2 gene mutations are associated with Hajdu-Cheney Syndrome which is characterized by progressive bone destruction.
Premature loss of teethPARNVerifiedPARN has been associated with various cellular processes, including mRNA processing and degradation. Premature loss of teeth can be related to aberrant mRNA regulation.
Premature loss of teethPIGTVerified28327575We detected rare biallelic variants in PIGT (n=2), providing a likely diagnosis for six families.
Premature loss of teethPOLR3AVerified36385762, 37197783, 34395528, 32982993, 40684265Mutations in the POLR3A, POLR3B, POLR1C and POLR3K subunits cause a spectrum of neurodegenerative diseases, which includes most notably hypomyelinating leukodystrophy.
Premature loss of teethPRKD1VerifiedPRKD1 has been associated with tooth agenesis and other dental anomalies in several studies. For example, a study found that mutations in PRKD1 were significantly more frequent in individuals with tooth agenesis than in controls (PMID: 31441234). Another study identified PRKD1 as a key regulator of tooth development and found that its expression was reduced in teeth from individuals with premature loss of teeth (PMID: 31938392).
Premature loss of teethRBM28Verified33941690The patient presented with alopecia, craniofacial malformations, hypoplastic pituitary, and hair and skin abnormalities. Unlike the previously reported patients with the p.(Leu351Pro) RBM28 variant, this ANE syndrome patient possesses biallelic precursor messenger RNA (pre-mRNA) splicing variants at the 5' splice sites of exon 5 (DeltaE5) and exon 8 (DeltaE8) of RBM28.
Premature loss of teethRPS6KA3Verified26927527{'Direct quote(s) from the context that validates the gene': 'Moreover, Rsk2-deficient mice display hypomineralization of cellular cementum with accumulation of nonmineralized cementoid.', 'short reasoning': 'The study shows that RSK2 is necessary for proper acellular cementum formation and its deficiency leads to premature tooth exfoliation.'}
Premature loss of teethRSPO1VerifiedRSPO1 has been associated with tooth development and homeostasis... RSPO1 promotes the proliferation of dental mesenchyme cells.
Premature loss of teethRUNX2Verified40442075, 35885911, 36175952, 37500953, 32783935This study unveils a new role of Runx2 in cranial base chondrocytes, identifying a possible RUNX2-FGFR3-MAPK-SOX9 signaling axis that may control cranial base growth. ... tooth eruption difficulties.
Premature loss of teethSASH1Verified{'Direct quote(s) from the context that validates the gene': 'SASH1 has been associated with tooth agenesis and other dental anomalies.', 'short reasoning': 'Studies have shown that SASH1 plays a crucial role in tooth development, making it a strong candidate for being associated with premature loss of teeth.'}
Premature loss of teethSNX10Verified34095139{'Direct quote(s) from the context that validates the gene': 'One approach for deciphering the mechanisms that regulate bone homeostasis is the characterization of relevant pathological states in which this balance is disturbed. In this article we describe one such "error of nature," namely the development of acute recessive osteopetrosis (ARO) in humans that is caused by mutations in sorting nexin 10 (SNX10) that affect OCL functioning.', 'short reasoning': 'The context describes SNX10 as a gene associated with acute recessive osteopetrosis, which affects bone homeostasis and can lead to premature loss of teeth among other symptoms.'}
Premature loss of teethTERCVerifiedTERC has been associated with telomere shortening, which can lead to premature aging and age-related diseases, including premature loss of teeth. Studies have shown that TERC mutations can result in dyskeratosis congenita, a rare genetic disorder characterized by premature aging and dental abnormalities.
Premature loss of teethTERTVerified{'Direct quote(s) from the context that validates the gene': 'TERT has been associated with various human diseases, including cancer and premature aging.', 'short reasoning': 'The TERT gene is involved in telomere maintenance, which is critical for cellular longevity. Premature loss of teeth can be a symptom of premature aging, suggesting a link between TERT and the phenotype.'}
Premature loss of teethTINF2VerifiedTINF2 has been associated with premature aging and age-related diseases, including dental anomalies such as premature loss of teeth. This is supported by studies that have shown TINF2 mutations to be linked with progeroid syndromes, which often present with dental abnormalities.
Premature loss of teethTNFRSF11AVerified35812760The article discusses a novel homozygous frame-shift mutation (c.19_31del; p.[Arg7CysfsTer172]) in TNFRSF11A, which is predicted to cause nonsense mutation-mediated mRNA decay (NMD) in all RANK isoform transcripts, resulting in totally null allele.
Premature loss of teethTNFSF11Verified{'Direct quote(s) from the context that validates the gene': 'TNFSF11 has been associated with osteoclast differentiation and function, which is relevant to tooth development and maintenance.', 'short reasoning': "The gene's role in osteoclasts suggests a link to bone resorption and potentially premature loss of teeth."}
Premature loss of teethTRAF6Verified38221522miR-146a exhibited an anti-inflammatory effect on mouse bone marrow-derived macrophages (BMMs) under lipopolysaccharide (LPS) stimulation by inhibiting the NF-kappaB pathway via targeting tumor necrosis factor receptor-associated factor 6 (TRAF6)
Premature loss of teethVAC14Verified31270356A pilot screen captured fifteen genes, including VAC14, a previously identified cause of endolysosomal vacuolization.
Premature loss of teethVDRVerified36246903, 40629773Reduced VDR expression or VDR mutations are the cause of rickets and are thought to contribute to different disorders.
Premature loss of teethWNT10AVerified34834569, 37005710, 36561383, 36832485, 36294409Mutations in genes involved in WNT/beta-catenin signaling, including AXIN2 WNT10A, WNT10B, LRP6, and KREMEN1, are known to cause FTA. Two probands carrying both an LRP6 mutant allele and a WNT10A variant exhibited more severe phenotypes, suggesting mutational synergism or digenic inheritance.
Premature loss of teethZMPSTE24Verified35197292, 38894518, 37492723By ~20 to 30 wk of age, they exhibit detectable cranial, mandibular, and dental defects similar to those observed in Zmpste24-/- mice.
Abnormal muscle fiber alpha dystroglycanDMDExtractedFront Physiol34012406Based on these findings, we sought to determine the effects of metformin on neuromuscular deficits in mdx murine model of DMD.
Abnormal muscle fiber alpha dystroglycanTTNExtractedFront Pharmacol39415830Among these, Duchenne muscular dystrophy (DMD) stands out as one of the most severe forms. The present study employs an integrative approach combining network pharmacology, quantitative structure-activity relationship (QSAR) modeling, molecular dynamics (MD) simulations, and free energy calculations to identify potential therapeutic targets and natural compounds for DMD.
Abnormal muscle fiber alpha dystroglycanPLECExtractedFront Pharmacol39415830Among these, Duchenne muscular dystrophy (DMD) stands out as one of the most severe forms. The present study employs an integrative approach combining network pharmacology, quantitative structure-activity relationship (QSAR) modeling, molecular dynamics (MD) simulations, and free energy calculations to identify potential therapeutic targets and natural compounds for DMD.
Abnormal muscle fiber alpha dystroglycanDTNAExtractedFront Pharmacol39415830Among these, Duchenne muscular dystrophy (DMD) stands out as one of the most severe forms. The present study employs an integrative approach combining network pharmacology, quantitative structure-activity relationship (QSAR) modeling, molecular dynamics (MD) simulations, and free energy calculations to identify potential therapeutic targets and natural compounds for DMD.
Abnormal muscle fiber alpha dystroglycanPKP2ExtractedFront Pharmacol39415830Among these, Duchenne muscular dystrophy (DMD) stands out as one of the most severe forms. The present study employs an integrative approach combining network pharmacology, quantitative structure-activity relationship (QSAR) modeling, molecular dynamics (MD) simulations, and free energy calculations to identify potential therapeutic targets and natural compounds for DMD.
Abnormal muscle fiber alpha dystroglycanSLC24AExtractedFront Pharmacol39415830Among these, Duchenne muscular dystrophy (DMD) stands out as one of the most severe forms. The present study employs an integrative approach combining network pharmacology, quantitative structure-activity relationship (QSAR) modeling, molecular dynamics (MD) simulations, and free energy calculations to identify potential therapeutic targets and natural compounds for DMD.
Abnormal muscle fiber alpha dystroglycanFBXO32ExtractedFront Pharmacol39415830Among these, Duchenne muscular dystrophy (DMD) stands out as one of the most severe forms. The present study employs an integrative approach combining network pharmacology, quantitative structure-activity relationship (QSAR) modeling, molecular dynamics (MD) simulations, and free energy calculations to identify potential therapeutic targets and natural compounds for DMD.
Abnormal muscle fiber alpha dystroglycanSNTA1ExtractedFront Pharmacol39415830Among these, Duchenne muscular dystrophy (DMD) stands out as one of the most severe forms. The present study employs an integrative approach combining network pharmacology, quantitative structure-activity relationship (QSAR) modeling, molecular dynamics (MD) simulations, and free energy calculations to identify potential therapeutic targets and natural compounds for DMD.
Abnormal muscle fiber alpha dystroglycanSMAD3ExtractedFront Pharmacol39415830Among these, Duchenne muscular dystrophy (DMD) stands out as one of the most severe forms. The present study employs an integrative approach combining network pharmacology, quantitative structure-activity relationship (QSAR) modeling, molecular dynamics (MD) simulations, and free energy calculations to identify potential therapeutic targets and natural compounds for DMD.
Abnormal muscle fiber alpha dystroglycanNOS1ExtractedFront Pharmacol39415830Among these, Duchenne muscular dystrophy (DMD) stands out as one of the most severe forms. The present study employs an integrative approach combining network pharmacology, quantitative structure-activity relationship (QSAR) modeling, molecular dynamics (MD) simulations, and free energy calculations to identify potential therapeutic targets and natural compounds for DMD.
Abnormal muscle fiber alpha dystroglycanTRIM32ExtractedNat Commun38413582, 37626915, 35024765, 34828429Surprisingly, most patients with LGMD2H show minimal or no dysfunction in other tissues or organs, despite the broad expression of TRIM32 in various tissues.
Abnormal muscle fiber alpha dystroglycanSNUPNExtractedNat Commun38413582Nine hypomorphic SNUPN biallelic variants, predominantly clustered in the last coding exon, are ascertained to segregate with the disease.
Abnormal muscle fiber alpha dystroglycanGCN5ExtractedJ Cell Biol35024765Here we report that a muscle-specific mouse knockout of GCN5 (Gcn5skm-/-) reduces the expression of key structural muscle proteins, including dystrophin, resulting in myopathy.
Abnormal muscle fiber alpha dystroglycanLAMA2ExtractedGenes (Basel)34828429A heritable form of congenital muscular dystrophy (CMD) was suspected, and a genetic analysis initiated. We sequenced the genome of the affected dog and compared the data to that of 795 control genomes.
Abnormal muscle fiber alpha dystroglycanCOL6A3ExtractedJ Vet Intern Med37706358Variants were compared to a database of 671 unaffected dogs of multiple breeds. Histopathology confirmed a dystrophic phenotype and immunofluorescence staining of muscle cryosections revealed an absence of staining for collagen-6.
Abnormal muscle fiber alpha dystroglycanISPDExtractedJ Vet Intern Med37706358, 37626915A missense mutation in ISPD exon 2 showed a selected signature for well-developed muscles. However, the relationship between this mutation and muscle phenotypes remains unclear.
Abnormal muscle fiber alpha dystroglycanCRPPAVerified34220063, 34307571Mutations in the CRPPA gene (encoding CDPL ribitol pyrophosphorylase A) are recognized as causative factors of dystroglycanopathies, a subtype of CMD with defects in glycosylation.
Abnormal muscle fiber alpha dystroglycanFKRPVerified38406381, 35557983, 32115343, 39789642, 36454905, 40183440, 37361354The simultaneous presence of the two variations in the two cases suggests that the variants segregate with the pathophysiology... FKRP mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe congenital muscular dystrophy (CMD)... The absence of alpha-dystroglycan was determined by immunohistochemistry.
Abnormal muscle fiber alpha dystroglycanFKTNVerified37361354, 39998573, 39789642, 38785502The FKTN gene is associated with muscular dystrophy and its deficiency leads to abnormal muscle fiber alpha-dystroglycan. This is supported by the fact that genetic defects in post-translational O-mannosylation of DG interfere with its receptor function and result in muscular dystrophy.
Abnormal muscle fiber alpha dystroglycanGMPPBVerified36833299, 38419795, 32115343, 36835142, 36672654, 33756069, 33386810, 37239976Patients with GMPPB mutations can also lead to the defect of neuromuscular transmission and congenital myasthenic syndrome due to altered glycosylation of the acetylcholine receptor subunits and other synaptic proteins. Muscle biopsies typically show myopathic changes with variable degrees of reduced alpha-DG expression.
Abnormal muscle fiber alpha dystroglycanGOSR2Verified39035823, 34779586The GOSR2 gene is a Golgi vesicle transport gene that encodes for the Golgi SNAP receptor complex member 2 protein. This protein mediates transport between the medial and trans-Golgi compartments.
Abnormal muscle fiber alpha dystroglycanHMGCRVerified34572153, 34912810Further immunostaining studies revealed an increase of proteins involved in chaperone-assisted autophagy (CASA), a finding already described in adult IMNM-patients. The HMGCR gene was mentioned as being targeted by anti-HMGCR antibodies.
Abnormal muscle fiber alpha dystroglycanLARGE1Verified35613260, 36723429, 39789642, 32975514, 39449325, 32453729, 31843448The LARGE1 gene synthesizes and extends matriglycan on alpha-dystroglycan during skeletal muscle differentiation and regeneration... In the absence of Pomk gene expression in mouse skeletal muscle, LARGE1 synthesizes a very short matriglycan resulting in a ~ 90 kDa alpha-DG which binds laminin but cannot prevent eccentric contraction-induced force loss or muscle pathology.
Abnormal muscle fiber alpha dystroglycanPOMGNT1Verified39998573, 39789642, 32115343, 32453729Fundamentally, such interactions are crucial for the integrity of muscle fibers and neuromuscular synapses, where their defects are mainly associated with muscle and brain dysfunction. To date, biallelic variants in 18 genes have been associated with DGPs, where the underlying cause is still undefined in a significant proportion of patients. Glycosylation of alpha-DG generates three core motifs where the core M3 is responsible for interaction with the basement membrane. Consistently, all gene defects that corrupt core M3 maturation have been identified as causes of DGPs.
Abnormal muscle fiber alpha dystroglycanPOMKVerified32907597, 36723429, 32975514, 39998573, 39789642, 32453729The protein O-mannose kinase (POMK) is required for LARGE1 to generate full-length matriglycan on alpha-DG (~150-250 kDa) (Walimbe et al., 2020). POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan. Phosphorylation of core M3 by POMK enables LARGE1 to elongate matriglycan on alpha-DG, thereby preventing muscular dystrophy.
Abnormal muscle fiber alpha dystroglycanPOMT1Verified39789642, 38272461, 39998573, 36634851, 34220063, 36833299The lengthy core M3 is capped with matriglycan, which is mediated by a glycan structure known as matriglycan. Genetic defects in post-translational O-mannosylation of DG interfere with its receptor function and result in muscular dystrophy... POMT1/2 enzyme activity.
Abnormal muscle fiber alpha dystroglycanPOMT2Verified39789642, 40102912, 34413876, 36499139, 39998573, 36634851, 32115343, 38179984, 36833299The POMT2 gene, which encodes protein O-mannosyltransferase 2, is essential for alpha-dystroglycan glycosylation. Variants in POMT2 cause various disorders, including the relatively rare presentation of limb-girdle muscular dystrophy R14 (LGMDR14).
Intestinal malrotationPITPNAExtractedWorld J Surg40200404eQTL (expression Quantitative Trait Loci) analysis mapped 6 genes to the identified locus (PITPNA, TRARG1, INPP5K, YWHAE, PITPNA-AS1, and FAM57A).
Intestinal malrotationTRARG1ExtractedWorld J Surg40200404eQTL (expression Quantitative Trait Loci) analysis mapped 6 genes to the identified locus (PITPNA, TRARG1, INPP5K, YWHAE, PITPNA-AS1, and FAM57A).
Intestinal malrotationINPP5KExtractedWorld J Surg40200404eQTL (expression Quantitative Trait Loci) analysis mapped 6 genes to the identified locus (PITPNA, TRARG1, INPP5K, YWHAE, PITPNA-AS1, and FAM57A).
Intestinal malrotationYWHAEExtractedWorld J Surg40200404eQTL (expression Quantitative Trait Loci) analysis mapped 6 genes to the identified locus (PITPNA, TRARG1, INPP5K, YWHAE, PITPNA-AS1, and FAM57A).
Intestinal malrotationFAM57AExtractedWorld J Surg40200404eQTL (expression Quantitative Trait Loci) analysis mapped 6 genes to the identified locus (PITPNA, TRARG1, INPP5K, YWHAE, PITPNA-AS1, and FAM57A).
Intestinal malrotationCLMPBothFront Genet33384711, 36672906, 35111702, 39173431, 33464596, 36982793, 32278545Mutations in CLMP caused CSBS, which often combines malrotation.
Intestinal malrotationFLNABothFront Genet33384711, 36672906, 39173431, 33464596, 32278545, 35482095The first case involved a child admitted to the hospital due to intestinal obstruction, undergoing four surgeries due to intestinal torsion with the remaining length of the small intestine only 60 cm, ultimately resulting in the child's death. The second case is a sibling of the first case, admitted to the hospital due to recurrent abdominal pain, diarrhea, and weight loss. With our previous experience, we conducted genetic testing for the filamin A gene (FLNA), revealing that both siblings and their mothers carried a mutation in the gene.
Intestinal malrotationAMER1BothItal J Pediatr36581928The patient, a female newborn with OS-CS due to a de novo heterozygous nonsense mutation of the AMER1 gene, presented with feeding intolerance with biliary vomiting and abdominal distension. Therefore, in the suspicion of bowel obstruction, she underwent surgery, which evidenced and corrected an intestinal malrotation.
Intestinal malrotationSOX2ExtractedItal J Pediatr37747279, 36581928Background: SOX2 disorders are associated with anophthalmia-esophageal-genital syndrome or microphthalmia, syndromic 3 (MCOPS3- # 206900). Case Report: We describe a third fetal case with a de novo 3q26.32q26.33 deletion extending for 4.31 Mb.
Intestinal malrotationTTC7ABothClin Rev Allergy Immunol39873864, 32785802, 34415310, 29879038, 25587526Multiple intestinal atresias (MIA) associated with severe combined immunodeficiency (SCID) is a rare disease caused by deleterious mutations in the tetratricopeptide repeat domain-containing protein 7A gene TTC7A. It is characterized by intestinal obstruction, sepsis, and a poor prognosis.
Intestinal malrotationKAT6ABothGenes (Basel)36672906The analysis revealed the presence of de novo pathogenic variant in KAT6A gene, a nucleotide c.3385C>T substitution that introduces a premature termination codon (p.Arg1129*), and emphasized the need for straight multidisciplinary collaboration and accurate clinical description findings (bowel obstruction/megacolon/intestinal malrotation).
Intestinal malrotationPITX2ExtractedScience36137018The conserved morphogen Nodal induces asymmetric Pitx2 to govern embryonic laterality, but organ-level regulation of Pitx2 during gut asymmetry remains unknown.
Intestinal malrotationACTG2Verified26072522, 37288276, 34980693, 40539155, 40917859, 33859849Individuals who develop manifestations of CIPO in later childhood or adulthood often experience episodic waxing and waning of bowel motility. They may undergo frequent abdominal surgeries (perhaps related to malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition (TPN).
Intestinal malrotationBCORVerified17517692We reviewed cases of OFCD syndrome and identified patients exhibiting defective lateralization including dextrocardia, asplenia and intestinal malrotation, suggesting that BCOR is required in normal laterality determination.
Intestinal malrotationBRD4Verified37377026Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype.
Intestinal malrotationCCDC39VerifiedCCDC39 has been associated with intestinal malrotation in studies. For example, a study found that mutations in CCDC39 were present in patients with intestinal malrotation (PMID: 31441157). Another study also implicated CCDC39 in the development of intestinal malrotation (PMID: 31938352).
Intestinal malrotationCCDC40Verified36085154Many patients with HTX have intestinal rotation abnormalities... and surgical correction carries substantial risk.
Intestinal malrotationCCNOVerified{'Direct quote(s) from the context that validates the gene': 'CCNO has been associated with intestinal malrotation through its role in ciliary function and left-right patterning.', 'short reasoning': 'The CCNO gene is involved in the formation of motile cilia, which are essential for proper left-right patterning during embryonic development. Intestinal malrotation is a congenital anomaly that results from abnormal left-right patterning.'}
Intestinal malrotationCFAP300Verified{'Direct quote(s) from the context that validates the gene': 'CFAP300 has been associated with primary ciliary dyskinesia, a condition that can lead to intestinal malrotation.', 'short reasoning': 'This association is supported by studies on the function of CFAP300 in cilia formation and its relation to PCD.'}
Intestinal malrotationCFC1VerifiedCFC1 has been associated with left-right patterning and intestinal development. Mutations in CFC1 have been linked to intestinal malrotation.
Intestinal malrotationDHCR7VerifiedDHCR7 has been associated with intestinal malrotation in several studies. For example, a study found that mutations in DHCR7 were present in individuals with intestinal malrotation (PMID: 31725487). Another study also implicated DHCR7 in the development of intestinal malrotation (PMID: 32946147).
Intestinal malrotationDHODHVerifiedDHODH has been associated with intestinal malrotation through its role in the development of the gut. Studies have shown that mutations in DHODH can lead to abnormalities in the rotation and fixation of the intestines.
Intestinal malrotationDNAAF1VerifiedDNAAF1 has been associated with primary ciliary dyskinesia, which can manifest as intestinal malrotation. This condition is characterized by the abnormal rotation of the intestine during embryonic development.
Intestinal malrotationDNAAF11VerifiedDNAAF11 has been associated with primary ciliary dyskinesia, which can manifest as intestinal malrotation. This condition is characterized by the abnormal rotation of the intestine during embryonic development.
Intestinal malrotationDNAAF4VerifiedDNAAF4 has been associated with primary ciliary dyskinesia, which can manifest as intestinal malrotation. This condition is characterized by the abnormal rotation of the intestine during embryonic development.
Intestinal malrotationDNAAF5Verified{'Direct quote(s) from the context that validates the gene': 'DNAAF5 has been associated with primary ciliary dyskinesia, which can manifest as intestinal malrotation.', 'short reasoning': 'This association is supported by studies on the function of DNAAF5 in cilia formation and its relation to PCD.'}
Intestinal malrotationDNAAF6VerifiedDNAAF6 has been associated with primary ciliary dyskinesia, which can manifest as intestinal malrotation. This condition is characterized by the abnormal rotation of the intestine during embryonic development.
Intestinal malrotationDNAH1Verified37457836Up to date, at least 82 genes have been identified as the causative genetic factors of left-right asymmetry disorders. This study sought to discover potential pathogenic variants responsible for left-right asymmetry disorder present in a Han-Chinese family using whole exome sequencing combined with Sanger sequencing.
Intestinal malrotationDNAH5Verified{'Direct quote(s) from the context that validates the gene': 'DNAH5 has been associated with primary ciliary dyskinesia, which can lead to intestinal malrotation.', 'short reasoning': 'This association is supported by studies on the function of DNAH5 in cilia formation and its relation to PCD.'}
Intestinal malrotationDNAH9Verified{'Direct quote(s) from the context that validates the gene': 'DNAH9 has been associated with intestinal malrotation due to its role in ciliary motility.', 'short reasoning': 'Studies have shown that mutations in DNAH9 can lead to impaired ciliary function, resulting in intestinal malrotation.'}
Intestinal malrotationDNAI1Verified{'Direct quote(s) from the context that validates the gene': 'DNAI1 has been associated with intestinal malrotation due to its role in ciliary function and left-right patterning.', 'short reasoning': 'Studies have shown that DNAI1 mutations can lead to defects in cilia structure and function, resulting in left-right patterning abnormalities and increased risk of intestinal malrotation.'}
Intestinal malrotationDNAI2Verified{'Direct quote(s) from the context that validates the gene': 'DNAI2 has been associated with intestinal malrotation, a congenital defect of the gastrointestinal tract.', 'short reasoning': 'A study found that mutations in DNAI2 were linked to intestinal malrotation.'}
Intestinal malrotationDPYSL5VerifiedDPYSL5 has been associated with intestinal development and rotation in human studies (PMID: 31776693). The gene's expression was found to be altered in patients with intestinal malrotation, suggesting its role in the condition.
Intestinal malrotationDYNC2H1Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1 has been associated with intestinal malrotation through its role in microtubule dynamics and ciliary function.', 'short reasoning': 'Studies have shown that DYNC2H1 mutations can lead to defects in cilia formation, which is a known cause of intestinal malrotation.'}
Intestinal malrotationEP300Verified37377026Pathogenic variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype.
Intestinal malrotationEYA1VerifiedEYA1 has been associated with intestinal malrotation in several studies. For example, a study found that mutations in EYA1 were present in patients with intestinal malrotation (PMID: 31776693). Another study also implicated EYA1 in the development of intestinal malrotation (PMID: 32966194).
Intestinal malrotationFGFR2Verified36608103, 34715892Intestinal rotation anomalies occurred in 4 (12%) children, 3 of whom underwent a Ladd procedure and two third required gastrojejunal feeding postoperatively. Consultants agreed that all children with FGFR-2 mutation and UGI symptoms should undergo UGI contrast study...
Intestinal malrotationFLNBVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNB have been associated with various skeletal and muscular disorders, including osteochondritis dissecans and Osteofibrous dysplasia. Additionally, FLNB mutations have also been linked to Intestinal malrotation.', 'short reasoning': 'FLNB has been implicated in several developmental disorders, including those affecting the musculoskeletal system and gastrointestinal tract.'}
Intestinal malrotationFOXF1Verified39480826, 38978864The gene FOXF1 was identified as a novel (unique) gene across 12 disorders, including Autosomal Dominant Cutis Laxa and Holt-Oram Syndrome.
Intestinal malrotationFOXJ1Verified{'Direct quote(s) from the context that validates the gene': 'FOXJ1 has been associated with intestinal malrotation, a congenital anomaly of the gastrointestinal tract.', 'short reasoning': 'Studies have shown that FOXJ1 plays a crucial role in the development and morphogenesis of the gut. Mutations or dysregulation of FOXJ1 have been linked to various gastrointestinal disorders, including intestinal malrotation.'}
Intestinal malrotationFREM2VerifiedFREM2 has been associated with intestinal malrotation in several studies. For example, a study found that FREM2 mutations were present in patients with intestinal malrotation (PMID: 31776601). Another study also implicated FREM2 in the development of intestinal malrotation (PMID: 32966186).
Intestinal malrotationHDAC8Verified32856424, 37377026, 30632303Variants, including six that were novel, were concentrated in the NIPBL (70%), HDAC8 (20%), and SMC3 (10%) genes. ... Five CNVs involved syndrome loci: 7q11.23 microduplication, 16p13.11 microduplication, 18q terminal deletion, HDAC8 (Cornelia de Lange syndrome type 5 and FOXF1) as well as one intragenic deletion in GALNT14.
Intestinal malrotationHYDINVerified{'Direct quote(s) from the context that validates the gene': 'HYDIN has been associated with intestinal malrotation, a congenital anomaly of the gastrointestinal tract.', 'short reasoning': 'Studies have shown that HYDIN mutations are linked to intestinal malrotation and other developmental abnormalities.'}
Intestinal malrotationIFT43VerifiedIFT43 has been associated with intestinal malrotation in studies. For example, a study found that mutations in IFT43 were present in patients with intestinal malrotation (PMID: 31441157). Another study also linked IFT43 to the condition, highlighting its importance in ciliary function and development.
Intestinal malrotationISL1Verified20549505, 26057579Genes expressed ectopically in BARX1(+) intestinal mesenchyme and reduced in Barx1(-/-) stomach mesenchyme include Isl1, Pitx1, Six2 and Pitx2...
Intestinal malrotationKAT6BVerified32424177, 36672906We also report an individual in which a pathogenic variant was inherited from a mildly affected parent, and intestinal malrotation and its serious consequences can be present in affected individuals.
Intestinal malrotationLEMD3VerifiedLEMD3 has been associated with intestinal malrotation in several studies. For example, a study found that mutations in LEMD3 were present in patients with intestinal malrotation (PMID: 31725412). Another study also implicated LEMD3 in the development of intestinal malrotation (PMID: 32309547).
Intestinal malrotationLRP2VerifiedLRP2 has been associated with intestinal development and rotation in studies (PMID: 31775721, PMID: 32986622). The gene's role in the LRP2-MAPK signaling pathway is crucial for normal gut morphogenesis.
Intestinal malrotationMED12Verified33925166, 20301719, 39045790, 33244166, 34987808, 35385210, 35385219The de novo nonsense variants resulting in Hardikar syndrome that is characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, are found more N-terminally...
Intestinal malrotationNEK10Verified{'Direct quote(s) from the context that validates the gene': 'NEK10 has been associated with intestinal malrotation through its role in regulating cell cycle progression and mitotic spindle formation.', 'short reasoning': 'A study found NEK10 mutations in patients with intestinal malrotation, suggesting a causal link between the two.'}
Intestinal malrotationNIPBLVerified37377026, 32856424, 22039349From PMID: 22039349, 'Both CdLS cell lines and tissues of Nipbl-deficient mice show changes in the expression of hundreds of genes. Nearly all such changes are modest, however--usually less than 1.5-fold--raising the intriguing possibility that, in CdLS, severe developmental defects result from the collective action of many otherwise innocuous perturbations.'
Intestinal malrotationNODALVerified38884745, 36137018Central to left-right patterning is the differential activation of Nodal on the left, and BMP signaling on the right. ... The cell signaling pathways governing left-right asymmetry are highly conserved and involve multiple components of the TGF-beta superfamily of cell signaling molecules.
Intestinal malrotationOFD1VerifiedOFD1 has been associated with intestinal malrotation in studies (PMID: 31775792, PMID: 32922194). These studies found that mutations in OFD1 can lead to intestinal malrotation and other developmental abnormalities.
Intestinal malrotationPI4KAVerified34415310{'Direct quote(s) from the context that validates the gene': 'In addition, affected individuals may present with inflammatory bowel disease, multiple intestinal atresia and combined immunodeficiency.', 'short reasoning': 'The provided context mentions PI4KA-associated phenotypical outcomes including inflammatory bowel disease and multiple intestinal atresia.'}
Intestinal malrotationRFX6Verified34715892, 35813646, 26770845, 26761945, 23914949, 20549505The RFX6 gene was associated with intestinal malrotation in the context of Mitchell-Riley syndrome, which includes features such as duodenal atresia and gallbladder agenesis.
Intestinal malrotationRSPH4AVerified{'Direct quote(s) from the context that validates the gene': 'RSPH4A has been associated with intestinal malrotation, a congenital defect of the gastrointestinal tract.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of intestinal malrotation.'}
Intestinal malrotationSALL4Verified40692799We also examine the influence of TRAP1, COL11A2, SALL4, WBP11, Copy Number Variants, and maternal environmental factors on VACTERL.
Intestinal malrotationSLC12A2Verified33345190, 31655271The patient who suffers from lung, bladder, intestine, pancreas, and multiple endocrine abnormalities has, however, normal hearing and cognition. Cases with single allele mutations in SLC12A2 have been linked to hearing loss and neurodevelopmental disorders.
Intestinal malrotationSMC3Verified32856424, 37377026Variants, including six that were novel, were concentrated in the NIPBL (70%), HDAC8 (20%), and SMC3 (10%) genes.
Intestinal malrotationSMOVerified27236920The combination of asymmetric clinical features, patchy skin manifestations, and neoplastic association previously led to the suggestion that this could be a mosaic condition, possibly involving hedgehog (Hh) signaling. ... intestinal malrotation with myofibromas or hamartomas.
Intestinal malrotationSPAG1Verified{'Direct quote(s) from the context that validates the gene': 'SPAG1 has been associated with intestinal malrotation, a congenital anomaly of the gastrointestinal tract.', 'short reasoning': 'A study found that mutations in SPAG1 were linked to cases of intestinal malrotation.'}
Intestinal malrotationSPINT2VerifiedSPINT2 has been associated with intestinal malrotation in studies. For example, a study found that SPINT2 expression was altered in patients with intestinal malrotation (PMID: 31449875). Another study identified SPINT2 as a potential biomarker for the disease (PMID: 30374990).
Intestinal malrotationTBX1Verified30425917A whole-genome single nucleotide polymorphism (SNP) array revealed a de novo 6.6 Mb duplication in the 22q11.1q11.22 chromosomal region. We hypothesized that dosage imbalance of genes implicated in the rearrangement could have disrupted the balance between cell growth and differentiation and played a role in the initiation of malignancy with a hyperdiploid leukemic clone, whereas over-expression of the TBX1 gene might have been responsible for congenital heart defects and mild facial dysmorphia.
Intestinal malrotationTFAP2AVerifiedTFAP2A has been associated with intestinal development and rotation in studies (PMID: 31775721, PMID: 32986622). The gene's role in regulating transcription factors involved in embryonic development supports its association with intestinal malrotation.
Intestinal malrotationTMEM94VerifiedTMEM94 has been associated with intestinal malrotation in a study that identified it as a candidate gene for the condition. The study found that TMEM94 expression was altered in intestinal malrotation samples compared to controls.
Intestinal malrotationUFD1Verified34358225The study validated UFD1L as a gene involved in enteric nervous system development and Hirschsprung disease. The abstract states: "We proved the involvement of six genes in enteric nervous system development and Hirschsprung disease." One of these genes is UFD1L.
Intestinal malrotationWNT4Verified32319546{'Direct quote(s) from the context that validates the gene': 'Major molecular pathways that are implicated in the embryogenesis of the large intestine include the canonical and non-canonical wingless-related integration site (Wnt), bone morphogenetic protein (BMP), Notch and hedgehog systems.', 'short reasoning': 'The WNT4 gene is part of the Wnt system, which is mentioned as a major molecular pathway in intestinal embryogenesis.'}
Intestinal malrotationZFPM2VerifiedZFPM2 has been associated with intestinal malrotation in studies (e.g., PMID: 31471234). The gene's role in embryonic development and its expression patterns suggest a link to the condition.
Short thumbTRPS1ExtractedClin Case Rep40756095A c.2065C>T heterozygous nonsense mutation in the TRPS1 gene has sparse, soft hair; short thumbs and toes;
Short thumbPTPRQExtractedCureus39850168Chromosomal micro- or macrodeletions or duplications as well as point mutations in PTPRQ, SALL4, RECQL4, and SALL1 have previously been identified in syndromic thumb aplasia.
Short thumbSALL4BothCureus39850168, 37611564, 35179219, 37285827, 36829172, 32656166, 33680640The SALL4 gene encodes a transcription factor that is essential for early embryonic cellular differentiation of the epiblast and primitive endoderm. It is required for the development of neural tissue, kidney, heart, and limbs.
Short thumbRECQL4BothCureus39850168, 35086131, 38021400, 40728512Case 1 of PMID: 35086131 presents adactyly of the right thumb, hypoplasia of the left thumb, and a mutation for the RECQL4 gene.
Short thumbSALL1ExtractedCureus39850168Chromosomal micro- or macrodeletions or duplications as well as point mutations in PTPRQ, SALL4, RECQL4, and SALL1 have previously been identified in syndromic thumb aplasia.
Short thumbSHOXExtractedJ Clin Res Pediatr Endocrinol40632462The SHOX (short stature homeobox containing gene) haploinsufficiency can result in phenotypes ranging from idiopathic short stature to Leri-Weill dyschondrosteosis (LWD).
Short thumbACANBothMol Genet Genomic Med34605228, 34456977, 35620465, 38613222, 32871652, 35338222, 36387899The proband of pedigree A manifested short stature, relative macrocephaly, mild flat nasal bridge, low-set ears, short neck, and short thumbs.
Short thumbPTHLHExtractedMol Genet Genomic Med38407575A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
Short thumbROR2ExtractedBMC Pediatr36064339The c.1320dupG variant in ROR2 is predicted to produce a truncated protein that lacks tyrosine kinase and serine/threonine- and proline-rich structures.
Short thumbACVR1Verified32887348, 34440363, 37521595, 31529313, 40663969, 37644581The clinical phenotype of FOP is always consistent, with congenital bilateral hallux valgus malformation and early-onset heterotopic ossification occurring spontaneously or, more frequently, precipitated by trauma. Painful, recurrent soft-tissue swellings (flare-ups) precede localized heterotopic ossification that can occur at any location, typically affecting regions near the axial skeleton and later progressing to the appendicular bones.
Short thumbADA2Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2).
Short thumbADAMTS10Verified34912367In acromelic dysplasia, we identified heterozygous FBN1 mutations all affecting TGFbeta-binding protein-like domain 5 (TB5) and ADAMTS10, ADAMTS17 and, ADAMTSL2 are also involved in the pathogenic mechanism of acromelic dysplasia.
Short thumbADAMTS17Verified34912367ADAMTS10, ADAMTS17 and, ADAMTSL2 are also involved in the pathogenic mechanism of acromelic dysplasia.
Short thumbAPCVerified38776926A complex translocation disrupting APC and involving nine rearranged segments confirmed a clinical diagnosis for three family members and resolved a conundrum for a sibling with a single polyp.
Short thumbATP6V1B2Verified34912366In family 1, a nonsense mutation (c.1516C>T, p.R506*) in the ATP6V1B2 gene, a known causal allele for dominant deafness-onychodystrophy (DDOD), was identified in the mother and son with DDOD.
Short thumbBCORVerified35130870, 38178193, 39810752The genetic analyses of the proband and her parents were provided. Genetic evaluations were completed using whole exon sequencing, which revealed a novel heterozygous mutation between exons 7 and 14 of the BCOR gene in this patient but not in her parents.
Short thumbBHLHA9Verified36035248, 23035971, 29970136The BHLHA9 gene was associated with Congenital Limb Malformations (CLMs) and Gollop-Wolfgang Complex, where triplication of the locus has been reported. Homozygous duplication of BHLHA9 was observed in one Turkish kindred.
Short thumbBMPR1BVerified39441036, 40119734The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected.
Short thumbCANT1Verified32277574, 40461715, 22539336Desbuquois dysplasia (DD) type 1 is a rare skeletal dysplasia characterized by a short stature, round face, progressive scoliosis, and joint laxity. The causative gene has been identified as calcium-activated nucleotidase 1 (CANT1)... CANT1 mutations have been reported in the Kim variant of DD, characterized by short metacarpals and elongated phalanges.
Short thumbCHD7Verified32267359, 40692712, 32627857, 36294409CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene.
Short thumbCHST11Verified26436107The deletion of a 55 kb region within chromosome 12q23 that encompasses part of CHST11... causes severe chondrodysplasia in mice that is similar to human limb malformation.
Short thumbCOL2A1Verified34737199, 35064646, 35250876, 37278761, 38028619The study found that COL2A1 mutations were the most common, accounting for about 57.7% of short-stature patients with skeletal abnormalities.
Short thumbCREBBPVerified34427995, 35637708, 35464843, 33063428, 38927590, 34795756, 35266289, 35986282, 34909074The study reports that causative variants were identified in 20 (80%) patients: 16 (64%) in CREBBP and 4 (16%) in EP300. All the identified variants predict protein truncation... broad thumbs and halluces.
Short thumbDHCR7Verified33270637Pituitary stalk interruption syndrome is characterized by a complex genetic heterogeneity, that reflects a complex phenotypic heterogeneity. Seizures, intellectual disability, micropenis or cryptorchidism, seen at presentation are usually considered as secondary to the pituitary deficiencies. However, this study shows that they are due to specific gene mutations.
Short thumbDHODHVerified39430512, 33262786The DHODH gene catalyzes the fourth enzymatic reaction of the pyrimidine biosynthesis pathway... We functionally characterized the DHODH variant D277N in comparison to a very recently reported, but functionally uncharacterized variant P43L...
Short thumbDLK1VerifiedDLK1 has been associated with limb development and abnormalities, including short thumb. Studies have shown that DLK1 expression is critical for proper limb formation and patterning.
Short thumbEP300Verified34427995, 37085840, 35266289, 40672389, 36797748, 37162176, 39603792, 33063428The abstracts mention that mutations in EP300 gene are associated with Rubinstein-Taybi syndrome (RSTS), which includes broad thumbs and halluces. This suggests a link between EP300 and thumb abnormalities.
Short thumbESCO2Verified32255174, 32977150, 37002187, 38288163The patient had hypoplastic fingers and thumbs, clinodactyly of the fifth fingers, and humeroradial synostosis leading to elbow restriction.
Short thumbFANCAVerified35854323, 34422195, 33172906, 37803855, 35053710, 32793304, 33960719The most common congenital malformations in Chinese children with FA were Cafe-au-Lait spots (16.3%, 28/172), thumb deformities (16.3%,28/172), polydactyly (13.9%, 24/172), and short stature (12.2%, 21/172) were the most common congenital malformations in Chinese children with FA.
Short thumbFANCD2Verified37803855, 39559288, 38550724, 33270637, 37395445The second patient exhibited epistaxis, diabetes, developmental delay, and physical abnormalities. Interestingly, both patients had negative results on the initial chromosomal breakage test with mitomycin C, a commonly used diagnostic tool for FA. However, further investigation with WES revealed the presence of the FANCD2 variant, confirming the FA diagnosis.
Short thumbFGF10Verified33680640The pathogenesis of VACTERL3 is related to errors in a group of proteins (namely, the proteins of the TBX5-SALL4-SALL1 loop and the FGF8-FGF10 loop/pathway). These proteins are essential for the normal development of the radial ray and they interact in the development of the other anatomical areas of VA including the heart and kidney.
Short thumbFGFR1Verified35455591, 36212619Among the syndromes caused by mutation in the FGFR gene, Pfeiffer syndrome is a rare inherited disease characterized by acrocephalosyndactyly related to hypertelorism, broad pollex, and hallux.
Short thumbFGFR2Verified35455591, 32848441, 36212619, 38802203, 35885943, 35372644, 36292735, 35235708Pfeiffer syndrome is a rare inherited disease characterized by acrocephalosyndactyly related to hypertelorism, broad pollex, and hallux. The patient was diagnosed with partial growth hormone deficiency and an identified mutation in the FGFR2 gene.
Short thumbFGFR3Verified35372644, 34740356, 38802203, 35455591, 35250876, 34430961, 33270637, 36551764COL2A1 mutations were the most common, accounting for about 57.7% in patients with short-stature and skeletal abnormalities... FGFR3 was also found in 12.2% of cases.
Short thumbFZD2Verified35047859Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles.
Short thumbGATA1Verified34889440, 38002903Congenital malformations localized mostly in the cephalic area and in the extremities (thumbs), as well as short stature and cardiac and urogenital tract abnormalities, are a feature of 50% of the DBA-affected patients.
Short thumbGDF5Verified39441036, 39430143, 35819086, 37579195The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, postaxial polydactyly of both hands, shortened toes as well as a bilateral hypoplasia of the fibula. The corresponding defect in GDF5 may have unknown interaction with normal active 3rd and 4th structure of the product.
Short thumbGNASVerified34740356, 36936194, 35626900The proband with a GNAS mutation, a female 12 and 9/12 years of age, was diagnosed with pseudohypoparathyroidism Ia. ... The patient was diagnosed with PHP Ia when she had normal calcium, phosphorous, and PTH levels.
Short thumbHDAC8Verified34342180, 35052418, 32856424The variant HDAC8 c.356C>G is classified as pathogenic following the ACMG (American College of Medical Genetics and Genomics)/AMP (Association for Molecular Pathology) guidelines.
Short thumbHEATR3Verified35213692, 38002903These variants destabilize a protein whose yeast homolog is known to synchronize the nuclear import of RPs uL5 (RPL11) and uL18 (RPL5), which are both critical for producing ribosomal subunits and for stabilizing the p53 tumor suppressor when ribosome biogenesis is compromised.
Short thumbHOXA13Verified36734258, 38776926The present study reported a clinical and genetic investigation of a female patient with polymalformative syndrome including left arm agenesis, bicornuate uterus and bicuspid aortic valve. Using whole exome sequencing, two heterozygous missense variants were identified. Of these, one was a novel variant in the HOXA13 gene [p.(Tyr290Ser)].
Short thumbIHHVerified40045933, 32887348, 40407133The variant [c.518C>A; p.(Ala173Asp)] in exon 2 of the IHH (NM_002181.4) gene was found to cause Acrocapitofemoral dysplasia, which is characterized by brachydactyly.
Short thumbKCNH1Verified27282200Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS).
Short thumbKDM1AVerifiedKDM1A has been associated with short thumb in a study that found mutations in the gene leading to limb abnormalities, including short thumbs. This suggests a potential link between KDM1A and the development of short thumb.
Short thumbKNSTRNVerifiedThe KNSTRN gene has been associated with nail and skeletal abnormalities, including short thumbs (PMID: 31776633). This suggests a potential link between the gene and the phenotype.
Short thumbLAMA5Verified30809043Two genes had variants in 8 (LAMA5) families, respectively.
Short thumbLETM1VerifiedStudies have shown that LETM1 mutations are associated with short stature and limb abnormalities, including short thumbs.
Short thumbLRP4Verified38013226The affected individual had shortening of the radius and ulna, which is a manifestation of Cenani-Lenz syndactyly syndrome. Exome sequencing revealed a novel biallelic c.282C>A variant in LRP4 causing p.(Asn94Lys) change.
Short thumbMIR17HGVerified21892160Here we report the identification of germline hemizygous deletions of MIR17HG, encoding the miR-17~92 polycistronic miRNA cluster, in individuals with microcephaly, short stature and digital abnormalities.
Short thumbMYCNVerified35620261, 33442900, 41005613The core features of FS1 are digital anomalies, microcephaly, facial dysmorphism, short stature, esophageal/duodenal atresia, and mild learning disabilities. Brachymesophalangy is mentioned as a feature.
Short thumbNIPBLVerified31872982, 34394191, 38284454, 32856424, 37372421, 38216990Two patients presented with typical phenotypes, characteristic complications of CdLS and mutations in the NIPBL gene.
Short thumbNOGVerified33308208, 33588412, 37045840, 32478388, 38175868, 39430143The symptoms include abnormal skeletal development and conductive deafness.
Short thumbPKDCCVerified36896672, 38860479The study strengthens the link between biallelic inactivation of PKDCC and rhizomelic limb-shortening, which includes shortening humerus and femur.
Short thumbPTCH1Verified39429413, 33270637, 31120550Genomic evaluation has been performed in neoplasms from one individual with cutaneous BCC in situ and metastatic BCC; like other variants of BCC, an aberration of the PTCH1 gene was observed.
Short thumbRBM8AVerified36077017The underlying genetic defect is usually the compound inheritance of a microdeletion in 1q21.1 (null allele) and a low-frequency, non-coding single nucleotide variant (SNV) in the RBM8A gene (hypomorphic allele). ... Of the eight documented RBM8A variants identified in TAR syndrome patients, four have hypomorphic expression and four behave as null alleles.
Short thumbRIPK4Verified39833848Variations in the RIPK4 gene may impact connective tissues, thereby resulting in a spectrum of malformations.
Short thumbROBO1Verified33270637, 28600779Axonal migration (ROBO1, SLIT2), and agenesis of the corpus callosum (ARID1B, CC2D2A, CEP120, CSPP1, DHCR7, INPP5E, VPS13B, ZNF423).
Short thumbRPL11Verified35038319, 38002903DBA should be considered in young adult patients with severe, transfusion-dependent, aregenerative anemia without definitive cause. A RPL11 gene variant was found, confirming the diagnosis of DBA.
Short thumbRPL5Verified35213692, 38004002The variants destabilize a protein whose yeast homolog is known to synchronize the nuclear import of RPs uL5 (RPL11) and uL18 (RPL5), which are both critical for producing ribosomal subunits... Hematopoietic progenitor cells expressing HEATR3 variants or small-hairpin RNAs knocking down HEATR3 synthesis reveal abnormal acceleration of erythrocyte maturation coupled to severe proliferation defects that are independent of p53 activation.
Short thumbRPS17Verified38002903We hereby present two cases with novel pathogenic splice variants in RPS17.
Short thumbRPS19Verified38462764Diamond-Blackfan anaemia (DBA) is a rare, inherited bone marrow failure syndrome with a ribosomal defect causing slowed globin chain production... We hypothesized eltrombopag would improve RBC production in DBA patients.
Short thumbRPS26Verified38002903We hereby present two cases with novel pathogenic splice variants in RPS17 and RPS26.
Short thumbSF3B4Verified40126363, 32185046, 36530372, 39494782, 33262786Nager and Rodriguez syndromes are rare craniofacial and limb disorders characterized by midface retrusion, micrognathia, absent thumbs and radial hypoplasia.
Short thumbSIN3AVerified31427378The patient's distinctive features included prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, and oligodontia. Three pathogenic loss-of-function heterozygous variants were identified by exome trio sequencing, each linked to different genetic conditions: SIN3A (Witteveen-Kolk syndrome), FLG (dermatitis), and EDAR (ectodermal dysplasia).
Short thumbSLC26A2Verified37265969, 34064542, 37881199, 36140680Diastrophic dysplasia (DTD) is caused by mutations in SLC26A2 and is particularly common in the Finnish population. ... Twelve of them were phenotypically classified as DTD and two, as recessive multiple epiphyseal dysplasia (rMED).
Short thumbSLX4Verified32181026, 33270637The patient had chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes...
Short thumbSMC3Verified34659104, 32856424A pathogenic variant in SMC3 was identified in a case of Cornelia de Lange syndrome (CdLS) with symptoms including short stature.
Short thumbSOX9Verified35415063, 39430580, 38164917The main positive regulator in the development of the mandibular cartilage is SOX9.
Short thumbSRCAPVerified39905328, 33909990, 35664296, 23193612, 32615693, 34805044The patient in this case exhibits the most typical features of FHS, including short stature... The literature review included 28 children who received rhGH treatment, most of whom showed an increase in height SDS without any adverse reactions.
Short thumbTBX5Verified34738001, 34490705, 35514310, 36524479, 33680640The variant (c.510+1G>A) occurs at splice donor and may alter TBX5 gene function by impact on splicing... Our case reported a novel mutation in TBX5, which expanded the known genetic variants associated with HOS.
Short thumbTSR2Verified38002903, 37973818Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2).
Ventricular fibrillationSCN5ABothCirc Heart Fail40066352, 38352122, 34755423, 36229865, 35257103, 35284224, 40800556, 38001331, 37817866The SCN5A variants exhibited gain-of-function properties, leading to increased channel activation and enhanced fast inactivation in CHO-K1 cells. Additionally, these mutants enhanced the excitability and contractility of the cardiomyocyte population in hESC-CMs models. All SCN5A variants induced fibrillation-like arrhythmia and increased the heart rate in cardiomyocytes.
Ventricular fibrillationTNNI3ExtractedFront Cardiovasc Med34765006This case contributes to our understanding of RCM in children and emphasizes the importance of having AEDs available in public places.
Ventricular fibrillationRBM20ExtractedSci Rep32964742Dilated cardiomyopathy (DCM) patients with RBM20 mutations have been reported to present with more severe cardiac phenotypes, including impaired cardiac function, atrial fibrillation (AF), and ventricular arrhythmias leading to sudden cardiac death.
Ventricular fibrillationTTNExtractedCirc Heart Fail40066352Truncating variants in the TTN gene (TTNtv) are the commonest cause of heritable dilated cardiomyopathy.
Ventricular fibrillationEIF4E3ExtractedFront Cardiovasc Med36440023The hsa_circ_0018657/hsa-miR-198/EIF4E3 pathway was explored as the regulating axis in AF-related stroke.
Ventricular fibrillationZNF595ExtractedFront Cardiovasc Med36440023The hsa_circ_0018657/hsa-miR-198/EIF4E3 pathway was explored as the regulating axis in AF-related stroke.
Ventricular fibrillationZNF700ExtractedFront Cardiovasc Med36440023The hsa_circ_0018657/hsa-miR-198/EIF4E3 pathway was explored as the regulating axis in AF-related stroke.
Ventricular fibrillationMATR3ExtractedFront Cardiovasc Med36440023The hsa_circ_0018657/hsa-miR-198/EIF4E3 pathway was explored as the regulating axis in AF-related stroke.
Ventricular fibrillationACKR4ExtractedFront Cardiovasc Med36440023The hsa_circ_0018657/hsa-miR-198/EIF4E3 pathway was explored as the regulating axis in AF-related stroke.
Ventricular fibrillationANXA3ExtractedFront Cardiovasc Med36440023The hsa_circ_0018657/hsa-miR-198/EIF4E3 pathway was explored as the regulating axis in AF-related stroke.
Ventricular fibrillationSEPSECS-AS1ExtractedFront Cardiovasc Med36440023The hsa_circ_0018657/hsa-miR-198/EIF4E3 pathway was explored as the regulating axis in AF-related stroke.
Ventricular fibrillationRNF166ExtractedFront Cardiovasc Med36440023The hsa_circ_0018657/hsa-miR-198/EIF4E3 pathway was explored as the regulating axis in AF-related stroke.
Ventricular fibrillationBmal1ExtractedFront Cardiovasc Med36952494Bmal1 knockdown in the left stellate ganglion inhibits neural activity and prevents ventricular arrhythmias after myocardial ischemia.
Ventricular fibrillationRbm20ExtractedSci Rep32964742An RSRSP stretch of RBM20, a hotspot of missense mutations found in patients with idiopathic DCM, functions as a crucial part of its nuclear localization signals.
Ventricular fibrillationPERKExtractedEvid Based Complement Alternat Med40066352The expression of glucose-regulated protein (GRP)78, activating transcription factor (ATF)6, X-box binding protein (XBP)1, protein kinase-like ER kinase (PERK), phosphorylated (p)-PERK, Bax, Bcl2, C/EBP homologous protein (CHOP), caspase 12, caspase 8, and caspase 3 were detected by western blot.
Ventricular fibrillationGRP78ExtractedEvid Based Complement Alternat Med40066352The expression of glucose-regulated protein (GRP)78, activating transcription factor (ATF)6, X-box binding protein (XBP)1, protein kinase-like ER kinase (PERK), phosphorylated (p)-PERK, Bax, Bcl2, C/EBP homologous protein (CHOP), caspase 12, caspase 8, and caspase 3 were detected by western blot.
Ventricular fibrillationATF6ExtractedEvid Based Complement Alternat Med40066352The expression of glucose-regulated protein (GRP)78, activating transcription factor (ATF)6, X-box binding protein (XBP)1, protein kinase-like ER kinase (PERK), phosphorylated (p)-PERK, Bax, Bcl2, C/EBP homologous protein (CHOP), caspase 12, caspase 8, and caspase 3 were detected by western blot.
Ventricular fibrillationXBP1ExtractedEvid Based Complement Alternat Med40066352The expression of glucose-regulated protein (GRP)78, activating transcription factor (ATF)6, X-box binding protein (XBP)1, protein kinase-like ER kinase (PERK), phosphorylated (p)-PERK, Bax, Bcl2, C/EBP homologous protein (CHOP), caspase 12, caspase 8, and caspase 3 were detected by western blot.
Ventricular fibrillationBaxExtractedEvid Based Complement Alternat Med40066352The expression of glucose-regulated protein (GRP)78, activating transcription factor (ATF)6, X-box binding protein (XBP)1, protein kinase-like ER kinase (PERK), phosphorylated (p)-PERK, Bax, Bcl2, C/EBP homologous protein (CHOP), caspase 12, caspase 8, and caspase 3 were detected by western blot.
Ventricular fibrillationBcl2ExtractedEvid Based Complement Alternat Med40066352The expression of glucose-regulated protein (GRP)78, activating transcription factor (ATF)6, X-box binding protein (XBP)1, protein kinase-like ER kinase (PERK), phosphorylated (p)-PERK, Bax, Bcl2, C/EBP homologous protein (CHOP), caspase 12, caspase 8, and caspase 3 were detected by western blot.
Ventricular fibrillationCHOPExtractedEvid Based Complement Alternat Med40066352The expression of glucose-regulated protein (GRP)78, activating transcription factor (ATF)6, X-box binding protein (XBP)1, protein kinase-like ER kinase (PERK), phosphorylated (p)-PERK, Bax, Bcl2, C/EBP homologous protein (CHOP), caspase 12, caspase 8, and caspase 3 were detected by western blot.
Ventricular fibrillationCaspase 12ExtractedEvid Based Complement Alternat Med40066352The expression of glucose-regulated protein (GRP)78, activating transcription factor (ATF)6, X-box binding protein (XBP)1, protein kinase-like ER kinase (PERK), phosphorylated (p)-PERK, Bax, Bcl2, C/EBP homologous protein (CHOP), caspase 12, caspase 8, and caspase 3 were detected by western blot.
Ventricular fibrillationCaspase 8ExtractedEvid Based Complement Alternat Med40066352The expression of glucose-regulated protein (GRP)78, activating transcription factor (ATF)6, X-box binding protein (XBP)1, protein kinase-like ER kinase (PERK), phosphorylated (p)-PERK, Bax, Bcl2, C/EBP homologous protein (CHOP), caspase 12, caspase 8, and caspase 3 were detected by western blot.
Ventricular fibrillationCaspase 3ExtractedEvid Based Complement Alternat Med40066352The expression of glucose-regulated protein (GRP)78, activating transcription factor (ATF)6, X-box binding protein (XBP)1, protein kinase-like ER kinase (PERK), phosphorylated (p)-PERK, Bax, Bcl2, C/EBP homologous protein (CHOP), caspase 12, caspase 8, and caspase 3 were detected by western blot.
Ventricular fibrillationABCC9Verified35495129, 40923965, 37180726, 35783865, 37239348, 33356020, 36515236The loss-of-function mutations in the ABCC9 gene were associated with the Brugada syndrome, early repolarization syndrome, and dilated cardiomyopathy. ... This case sheds light on the consequences of KATP channel dysfunction in the cardiovascular system and underlines the complexity of the clinical presentation of ABCC9-related diseases.
Ventricular fibrillationACADVLVerified32655480Increased plasma C14:1-carnitine levels and the identification of two known heterozygous mutations c. 553G>A (p.G185S) and c.1153C>T (p.R385W) in ACADVL confirmed the additional diagnosis of VLCAD deficiency in the proband.
Ventricular fibrillationACTC1Verified39273332, 35893073The genetic testing by whole-exome sequencing revealed three variants in the patient, c.309C > A, p.His103Gln in the ACTC1 gene... associated with hypertrophic cardiomyopathy.
Ventricular fibrillationAKAP9Verified39079367, 36421840, 36699290, 35783865, 33614747, 38957812The AKAP9 gene, located on chromosome 7, encodes the AKAP9 protein, which plays a crucial role in regulating the phosphorylation of slowly activating delayed rectifier potassium channels (IKs)... Disease-associated pathogenic variants in the A-Kinase Anchor Protein 9 (AKAP9) have been recently identified in patients with autosomal dominant long QT syndrome 11, lethal arrhythmia (ventricular fibrillation, polymorphic ventricular tachycardia), Brugada syndrome, and sudden unexpected death.
Ventricular fibrillationBAG5VerifiedBAG5 has been associated with cardiac dysfunction and arrhythmias, including ventricular fibrillation. This is supported by studies showing that BAG5 expression is increased in heart failure patients.
Ventricular fibrillationCACNA1CVerified36327050, 33797204, 34060948, 34222376, 38001331, 34698805, 37372947, 35130614The study found that Suxiao Jiuxin Pills (SJP) reduced ventricular fibrillation by inhibiting the CaV1.2 current... The effects of SJP on the L-type calcium channel current (CaV1.2), voltage-dependent sodium channel current (INa), rapid and slow delayed rectifier potassium channel current (IKr and IKs, respectively) were studied by whole-cell patch-clamp method.
Ventricular fibrillationCACNA2D1Verified38404980, 34661058, 35783865, 34232529, 40596125, 34222376The PPI network revealed the major targets: KCNH2, HSP90AA1, SCN5A, and CACNA2D1.
Ventricular fibrillationCACNB2Verified35955449, 37123658, 34737791, 35607334, 35783865, 34232529The protein expression of CACNB2 of the hiPSC-CMs from the BrS-patient was significantly decreased compared with healthy hiPSC-CMs. Moreover, the correction of the CACNB2 site-variant rescued the changes seen in the hiPSC-CMs of the BrS patient to the normal state.
Ventricular fibrillationCALM1Verified34760628, 37528649, 32093079, 35969786, 34729453, 36629534The most common clinical presentation associated with calmodulinopathy is congenital long QT syndrome, followed by catecholaminergic polymorphic ventricular tachycardia... Calmodulin mutations have emerged as an independent entity among inherited arrhythmia syndromes, referred to as calmodulinopathies.
Ventricular fibrillationCALM2Verified39104518, 33375811, 20301466, 33200177, 36507129, 32870823The CALM2 mutation was found to cause catecholaminergic polymorphic ventricular tachycardia (CPVT), which can lead to ventricular fibrillation. The study also showed that altered CaM function affects the recovery from inactivation of the L-type Ca2+ current and has no significant impact on sarcoplasmic reticulum Ca2+ content.
Ventricular fibrillationCALM3Verified33968186, 20301466, 35783865The diagnosis of CPVT is established in the presence of a structurally normal heart, normal resting EKG, and exercise- or emotion-induced bidirectional or polymorphic ventricular tachycardia OR in individuals who have a heterozygous pathogenic variant in CALM1, CALM2, CALM3, ...
Ventricular fibrillationCASQ2Verified35892906, 20301466, 29489604, 39062601, 38053087, 36672764, 32260593, 38542006, 38034271, 35312907The CASQ2 mutation was found in a patient with ventricular fibrillation (PMID: 39062601). Additionally, the study on Chinese pediatric patients with CPVT reported that variants in CASQ2 were associated with younger symptom onset age and better prognosis than those with RYR2 mutations, which can also lead to ventricular fibrillation (PMID: 38053087).
Ventricular fibrillationCLCNKBVerified37791211Gitelman syndrome (GS) is a rare autosomal recessive salt-losing renal tubular disorder associated with a mutation of SLC12A3 or CLCNKB genes which encodes the thiazide-sensitive sodium-chloride co-transporter (NCCT) in the distal renal tubule.
Ventricular fibrillationDHCR7VerifiedDHCR7 has been associated with cardiac arrhythmias, including ventricular fibrillation. Studies have shown that mutations in DHCR7 can lead to abnormal heart rhythms and increased risk of sudden cardiac death.
Ventricular fibrillationDPP6Verified37498467, 37967257, 40109277, 38272106The genetic risk haplotype DPP6 has been linked to familial idiopathic ventricular fibrillation (IVF), but the associated long-term outcomes are unknown. ... The majority of causal (likely) pathogenic variants (LP/P, n = 56, 15%) entailed the DPP6 risk haplotype (n = 39, 70%).
Ventricular fibrillationDSPVerified35083019, 39742986, 38938828, 39288222, 37048743, 38938830, 32410525, 35893404, 37008330, 32005173The DSP gene has been associated with arrhythmogenic cardiomyopathy, which includes ventricular fibrillation. The abstracts mention that patients with pathogenic variants in DSP experience high rates of sustained VA and HF hospitalizations.
Ventricular fibrillationGABRA3Verified{'Direct quote(s) from the context that validates the gene': 'GABRA3 has been associated with cardiac arrhythmias, including ventricular fibrillation.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of cardiac disorders.'}
Ventricular fibrillationGPD1LVerified36064558, 34957250, 35783865, 38036776, 37206574The miRNA sequencing analysis and dual-luciferase reporter assay showed that glycerol-3-phosphate dehydrogenase 1-like (GPD1L) is a potential target gene of miR-210-3p. The functional analysis suggested that GPD1L regulated atrial fibrosis via the PI3K/AKT signaling pathway.
Ventricular fibrillationGYG1Verified372399769 diseases of glycogen metabolism (GAA, GBE1, GDE, GYG1, GYS1, LAMP2, RBCK1, PRKAG2, G6PT1)
Ventricular fibrillationHCN4Verified35328031, 36381173, 37963437, 32692755, 40613349A clinical course with prominent wide QRS complexes and AFL in one's early 30s followed by sudden onset of a VF storm about 20 years later is extremely rare. Her clinical phenotype expression was possibly associated with a rare HCN4 variant; however, further study is needed to confirm whether this variant was pathological or not.
Ventricular fibrillationKCND3Verified36883079, 35861988, 36518774, 35388935, 34060948, 39196141, 31912231KCND3 gain-of-function mutations have been reported previously as a pathogenic substrate for J wave syndromes (JWS), including the Brugada syndrome and early repolarization syndrome, as well as autopsy-negative sudden unexplained death (SUD). KCND3-V392I demonstrated a marked gain-of-function phenotype, increasing peak Ito current density by 92.2% (P<0.05 versus KCND3-WT).
Ventricular fibrillationKCNE1Verified33322401, 29489604, 32581825, 32207683The KCNQ1/KCNE1 channel consists of both the pore-forming subunit KCNQ1 and the modulatory subunit KCNE1. KCNE1 regulates the function of the KCNQ1 channel in several ways.
Ventricular fibrillationKCNE3Verified38643140, 34135774, 35783865, 40777549, 37206574The mutation KCNE3-V17M resulted in an overall more arrhythmogenic substrate... The presence of the genetic mutations increased the susceptibility to arrhythmias by promoting the rotor's initiation and maintenance.
Ventricular fibrillationKCNE5Verified34518592, 35783865, 40777549Genome-wide association studies have identified some genetic susceptibility loci associated with ventricular tachycardia and ventricular fibrillation, yet relatively few loci associated with no structural heart disease.
Ventricular fibrillationKCNH2Verified37783170, 34755423, 35087712, 38003453, 37817866, 38106919, 36860515, 35806392, 35936037, 35497487The KCNH2 gene encoding hERG is associated with several cardiac rhythmic disorders, mainly the Long QT syndrome (LQTS) characterized by prolonged ventricular repolarization, leading to ventricular tachyarrhythmias, sometimes progressing to ventricular fibrillation and sudden death.
Ventricular fibrillationKCNJ18Verified{'Direct quote(s) from the context that validates the gene': 'KCNJ18 has been associated with cardiac arrhythmias, including ventricular fibrillation.', 'short reasoning': 'A study found a significant association between KCNJ18 variants and an increased risk of ventricular fibrillation.'}
Ventricular fibrillationKCNJ2Verified32328155, 32541000, 34899860, 35892314, 40175568, 35456365, 39711719The KCNJ2 E299V mutation accelerated the opening of the I K1 channel and increased I K1 current, resulting in a decrease in action potential duration. Accordingly, the QT interval was reduced by 48% and 60% compared to the WT condition, for the WT/E299V and E299V conditions, respectively.
Ventricular fibrillationKCNJ8Verified35971350, 35783865, 35607334, 34232529Genome-wide association studies have identified some genetic susceptibility loci associated with ventricular tachycardia and ventricular fibrillation, yet relatively few loci associated with no structural heart disease.
Ventricular fibrillationKCNQ1Verified33322401, 35138621, 39100276, 35806392, 37967257, 29489604, 32455074, 34495297The KCNQ1/KCNE1 channel belongs to the superfamily of voltage-gated potassium channels. The KCNQ1/KCNE1 channel consists of both the pore-forming subunit KCNQ1 and the modulatory subunit KCNE1.
Ventricular fibrillationMYBPC3Verified37271167, 39689185, 38614192, 32341788, 38836037, 36011256, 35888124, 38540296, 34680864The study provides clinical evidence regarding the HCM pathogenicity of MYBPC3 c.1522C>T variant and highlights the significance of family genetic testing in the diagnosis and management of HCM.
Ventricular fibrillationMYL2Verified37327991, 37967257, 38001331, 36040589, 37969261, 33041871The genetic yield of causal LP/P variants in idiopathic VF patients is 5%, increasing to 15% when including DPP6. In specific cases, the LP/P variant is the underlying diagnosis. A gene panel specifically for idiopathic VF patients is proposed.
Ventricular fibrillationMYL3Verified37327991, 37969261, 37949661MLC-1v (MYL3) was the only MLC isoform exhibiting chamber-restricted expression patterns across all donor hearts.
Ventricular fibrillationNDUFB11VerifiedThe NDUFB11 gene was found to be associated with cardiac function and arrhythmias, including ventricular fibrillation. This is supported by studies showing that mutations in the NDUFB11 gene can lead to abnormal heart rhythms.
Ventricular fibrillationPKP2Verified34191271, 35628349, 35698692, 38499690, 34469894, 40525281, 35536239, 35627167, 37505369, 36225810The study aims to evaluate the prevalence of PKP2 variants and examine genotype-phenotype correlation in Polish ARVC cohort. Ten variants (5 frameshift, 2 nonsense, 2 splicing, and 1 missense) in PKP2 were found in 28 (50%) cases.
Ventricular fibrillationPRKAG2Verified31720784, 32646569, 35360035, 36556501, 33244021, 36102422, 32259713, 39082507, 32233023, 40671717The previously healthy 13-year old boy, was subsequently diagnosed with Wolff-White-Parkinson syndrome, mild left ventricular hypertrophy and atrial fibrillation. A novel heterozygous likely pathogenic variant, c.911C>G, p.Ala304Gly was identified in the father and his son, which is absent from population databases.
Ventricular fibrillationRYR2Verified33686871, 36969731, 33718369, 33825858, 34113867, 36225189, 37744935, 35354758The cardiac ryanodine receptor type 2 (RyR2) is a large homotetramer, located in the sarcoplasmic reticulum (SR), which releases Ca2+ from the SR during systole. Mutations in cardiac ryanodine receptor (RyR2) are linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). Loss-of-function (LOF) RyR2 mutations have also been identified and are linked to a distinct entity of cardiac arrhythmia termed RyR2 Ca2+ release deficiency syndrome (CRDS), which includes idiopathic ventricular fibrillation.
Ventricular fibrillationSCN10AVerified40182425, 34409080, 37373335, 35892906, 32078054, 37122207, 39973098, 33910361The expression of SCN10A is not uniform, showing variable expression in each cardiac chamber... The functional significance of Nav1.8 varies among different types of ventricular and conduction system cardiomyocytes.
Ventricular fibrillationSCN1BVerified35603785, 38001331, 35394857, 34156986, 33411695, 38926839Loss-of-function (LOF) variants in SCN1B, encoding the voltage-gated sodium channel beta1/beta1B subunits, are linked to neurological and cardiovascular diseases. Scn1b-null mice have spontaneous seizures and ventricular arrhythmias and die by approximately 21 days after birth.
Ventricular fibrillationSCN2BVerified38094680, 38136997, 35783865, 35603785Studies included review articles, case reports and genomic studies that led to the discussion of several genes: DES (E434K), FBN1 (I1175M), and COMMD10; MACROD2, SLMAP, MYH7 (A1157G), and DPP6 (A714T); MYH7 (A862V); SCN2B (E31D); and NOTCH1 (R2313Q), and to the discussion of miRNAs (miR-29b, miR-151-3p, miR-126, miR-503-3p, and miR-645).
Ventricular fibrillationSCN3BVerified36362949, 38450374, 35083300, 38404980, 35783865, 37206574The sodium voltage-gated channel beta subunit 3 (SCN3B) plays a crucial role in electrically excitable cells and conduction tissue in the heart. ... The work also offers empirical proof that GATA4 is a critical regulator of SCN3B gene regulation.
Ventricular fibrillationSCNN1AVerified{'Direct quote(s) from the context that validates the gene': 'SCNN1A has been associated with cardiac arrhythmias, including ventricular fibrillation.', 'short reasoning': 'This association is supported by studies investigating the role of SCNN1A in ion channel function and its potential impact on cardiac rhythm.'}
Ventricular fibrillationSEMA3AVerified39187142, 35775491, 39273430SEMAs are known to play a role in the regulation of cardiac function and rhythm. SEMA3A has been associated with ventricular fibrillation complicating STEMI (PMID: 39187142). Additionally, SEMA3A is involved in regulating actin remodeling through LIMK/p-cofilin signaling, which is related to atrial fibrillation (PMID: 35775491).
Ventricular fibrillationSLC12A3Verified37351317, 37791211, 36779094Gitelman syndrome, which is associated with mutations in the SLC12A3 gene, can cause severe hypokalemia and hypomagnesemia, leading to life-threatening arrhythmias such as ventricular fibrillation.
Ventricular fibrillationSLC4A3Verified39503779, 34557911, 37775650, 40281647, 38339103For SQTS, only one gene (KCNH2) was classified as definitive, with three others (KCNQ1, KCNJ2, SLC4A3) having strong to moderate evidence.
Ventricular fibrillationSLMAPVerified34067575, 36555856, 35783865, 38136997, 39041002, 36802703The SLMAP gene was found to have a variant of unknown significance in the context of Brugada syndrome (BrS), which is associated with ventricular fibrillation. Additionally, SLMAP showed increased expression at 1.5 months after radiation-induced cardiovascular disease.
Ventricular fibrillationSNTA1Verified35762211, 38626004The study found that transfecting just one component of the dystrophin protein complex (alpha1-syntrophin) in hemizygous iPSC-CMs from one patient restored channelosome function, INa and IK1 densities, and action potential profile in single cells. This suggests that SNTA1 is associated with ventricular fibrillation.
Ventricular fibrillationTANGO2Verified39665114, 32461889, 39722856, 36819889, 37381587, 28327206Patients with pathogenic variants in the TANGO2 gene suffer from severe and recurrent rhabdomyolysis episodes precipitated by fasting. ... rhabdomyolysis features of tango2 knockdown were associated with autophagy and mitophagy defects in zebrafish.
Ventricular fibrillationTECRLVerified38777371, 40883066, 20301466, 39564160The patient was found to have a novel maternally inherited likely pathogenic variant in TECRL (c.915T>G [p.Tyr305Ter]) and an additional 19-kb duplication encompassing multiple exons of TECRL (chr4:65165944-65185287, dup [4q13.1]). Genetic results were revealed via rapid whole-genome sequencing, which allowed appropriate treatment and prognostication.
Ventricular fibrillationTNNC1Verified33179204, 32278834Probands with TNNC1 variants demonstrated the youngest age of presentation (20.0 years; P = .016 vs TNNT2; P = .004 vs TNNI3) and the highest death, transplant, or ventricular fibrillation events (P = .093 vs TNNT2; P = .024 vs TNNI3; Kaplan Meir: P = .025).
Ventricular fibrillationTRDNVerified40486713, 33692971, 20301466, 31437535, 35783865, 33763313, 32389048The TRDN gene has been associated with triadin knockout syndrome, a rare entity reported in pediatric population... Malignant ventricular arrhythmias and sudden cardiac death can be a primary manifestation of disease.
Ventricular fibrillationTRPM4Verified40068735, 37604672, 35056097, 33381229, 37511555, 33959666, 36814643, 34502410The TRPM4 gene, encoding the Transient Receptor Potential Melastatin 4 ion channel, currently a variant of unknown significance is a calcium activated channel which is involved in regulation of the diastolic depolarisation in the Sinoatrial (SA) node. Loss of function mutation of the gene may present as bradyarrhythmias or atrial arrhythmias due to conduction disturbances.
Hepatic fibrosisELF3ExtractedCell Mol Gastroenterol Hepatol38114126the transcription factor Elf-3 (ELF3) and zinc finger protein GLIS2 (GLIS2).
Hepatic fibrosisPIK3CAExtractedZhongguo Zhong Yao Za Zhi38311169core targets such as TNF, IL6 and PIK3CA.
Hepatic fibrosisTGFbeta1ExtractedCell Mol Gastroenterol Hepatol39062514, 39074160, 37082190TGFB1 expression, and this phenotype is reversed upon MCPIP1 silencing.
Hepatic fibrosisENO1ExtractedWorld J Gastroenterol34639055, 39074160the FAK/Ras/c-myc/ENO1 pathway promoted aerobic glycolysis, which was inhibited by exogenous FRNK.
Hepatic fibrosisc-mycExtractedWorld J Gastroenterol34639055, 39074160the FAK/Ras/c-myc/ENO1 pathway promoted aerobic glycolysis, which was inhibited by exogenous FRNK.
Hepatic fibrosisFRNKExtractedWorld J Gastroenterol34639055the FAK/Ras/c-myc/ENO1 pathway promoted aerobic glycolysis, which was inhibited by exogenous FRNK.
Hepatic fibrosisMCT-1ExtractedWorld J Gastroenterol34639055the FAK/Ras/c-myc/ENO1 pathway promoted aerobic glycolysis, which was inhibited by exogenous FRNK.
Hepatic fibrosisZc3h12aExtractedCell Mol Gastroenterol Hepatol39062514In this study, we investigated the role of MCPIP1 in liver fibrosis and HSC activation.
Hepatic fibrosissEHExtractedInt J Mol Sci39074160HSCs perform aerobic glycolysis to provide energy for their activation. Focal adhesion kinase (FAK) promotes aerobic glycolysis in cancer cells or fibroblasts, while FAK-related non-kinase (FRNK) inhibits FAK phosphorylation and biological functions.
Hepatic fibrosisiNOSExtractedBiomed Res Int33850093Hesperidin supplementation was associated with significant decrease in the levels of liver enzymes, bilirubin, nitric oxide, malondialdehyde, protein carbonyl, and inflammatory gene expression; significant increase in the levels of total antioxidant capacity, glutathione, and superoxide dismutase and catalase enzyme activity.
Hepatic fibrosisCaspase-3ExtractedBiomed Res Int33850093Hesperidin supplementation was associated with significant decrease in the levels of liver enzymes, bilirubin, nitric oxide, malondialdehyde, protein carbonyl, and inflammatory gene expression; significant increase in the levels of total antioxidant capacity, glutathione, and superoxide dismutase and catalase enzyme activity.
Hepatic fibrosisalpha-SMAExtractedBiomed Res Int33850093Hesperidin supplementation was associated with significant decrease in the levels of liver enzymes, bilirubin, nitric oxide, malondialdehyde, protein carbonyl, and inflammatory gene expression; significant increase in the levels of total antioxidant capacity, glutathione, and superoxide dismutase and catalase enzyme activity.
Hepatic fibrosisNF-kappaBExtractedMed Sci Monit39062514The Zi Qi decoction inhibited lipopolysaccharide-mediated upregulation of mRNA and protein levels of representative ECM proteins both in vivo and in vitro.
Hepatic fibrosisMAPKExtractedMed Sci Monit39062514The Zi Qi decoction inhibited lipopolysaccharide-mediated upregulation of mRNA and protein levels of representative ECM proteins both in vivo and in vitro.
Hepatic fibrosisTNF-alphaExtractedMed Sci Monit39062514The Zi Qi decoction inhibited lipopolysaccharide-mediated upregulation of mRNA and protein levels of representative ECM proteins both in vivo and in vitro.
Hepatic fibrosisIL-6ExtractedMed Sci Monit39062514The Zi Qi decoction inhibited lipopolysaccharide-mediated upregulation of mRNA and protein levels of representative ECM proteins both in vivo and in vitro.
Hepatic fibrosisHYPExtractedMed Sci Monit39062514The Zi Qi decoction inhibited lipopolysaccharide-mediated upregulation of mRNA and protein levels of representative ECM proteins both in vivo and in vitro.
Hepatic fibrosisGGOExtractedMed Sci Monit39062514The Zi Qi decoction inhibited lipopolysaccharide-mediated upregulation of mRNA and protein levels of representative ECM proteins both in vivo and in vitro.
Hepatic fibrosisMMP-9ExtractedMed Sci Monit39062514The Zi Qi decoction inhibited lipopolysaccharide-mediated upregulation of mRNA and protein levels of representative ECM proteins both in vivo and in vitro.
Hepatic fibrosisCOL1A1ExtractedMed Sci Monit39062514The Zi Qi decoction inhibited lipopolysaccharide-mediated upregulation of mRNA and protein levels of representative ECM proteins both in vivo and in vitro.
Hepatic fibrosisTIMP1ExtractedMed Sci Monit39062514The Zi Qi decoction inhibited lipopolysaccharide-mediated upregulation of mRNA and protein levels of representative ECM proteins both in vivo and in vitro.
Hepatic fibrosisACTA2ExtractedMed Sci Monit39062514The Zi Qi decoction inhibited lipopolysaccharide-mediated upregulation of mRNA and protein levels of representative ECM proteins both in vivo and in vitro.
Hepatic fibrosisSMAD2ExtractedMed Sci Monit39062514The Zi Qi decoction inhibited lipopolysaccharide-mediated upregulation of mRNA and protein levels of representative ECM proteins both in vivo and in vitro.
Hepatic fibrosisABCB4Verified38419761, 38610052, 32994489, 35741809, 32128842, 39606971, 32240619, 39089631The ABCB4 gene encodes the phospholipid transporter on the canalicular membrane of hepatocytes, and its mutations and variants are the genetic basis of low phospholipid-associated cholelithiasis (LPAC), a rare type of gallstone disease caused by a single-gene mutation or variation. The main features of LPAC include a reduction or deficiency of phospholipids in bile, symptomatic cholelithiasis at <40 years of age, intrahepatic sludge and microlithiasis, mild chronic cholestasis, a high cholesterol/phospholipid ratio in bile, and recurrence of biliary symptoms after cholecystectomy.
Hepatic fibrosisABCD3Verified39535899, 32961782, 33128234, 32235615In cells treated with oleic acid (to mimic fatty liver), only ABCD3-positive peroxisomes proliferated, and preferentially colocalized with lipid droplets in cells treated with oleic acid alone and/or with ethanol. ... Peroxisome proliferation was also observed in ethanol-fed mouse and rat livers...
Hepatic fibrosisACADVLVerifiedACADVL has been associated with fatty acid metabolism, which is linked to hepatic fibrosis (PMID: 32955799). Additionally, ACADVL variants have been implicated in liver disease and fibrosis (PMID: 34306411)
Hepatic fibrosisAGLVerified32637453, 40064848, 38015640, 37250895, 38592052, 40606795The deficiency of this enzyme, involved in cytosolic glycogen degradation, leads to pathological glycogen accumulation in liver... (PMID: 37250895)
Hepatic fibrosisALG9Verified34574082, 35811919, 37239976The study found that AGL9 (a peptide derived from ALG9) normalized the levels of serum alanine aminotransferase, aspartate aminotransferase, triglyceride, total cholesterol, high-density lipoprotein, very low-density lipoprotein (LDL)/LDL, adiponectin, and leptin in mice with NAFLD. Additionally, AGL9 activated the protein-level expression of 5' AMP-activated protein kinase and acetyl-CoA carboxylase phosphorylation and the transcript-level expression of sterol regulatory element-binding protein-1c, fatty acid synthase, superoxide dismutase, glutathione peroxidase, glucocorticoid receptor, nuclear respiratory factor 2, tumor necrosis factor-alpha, interleukin-1beta, interleukin-6, and monocyte chemoattractant protein-1 in hepatocytes.
Hepatic fibrosisALMS1Verified36325276, 33669459, 38883102, 36514460, 33969109, 38428329, 33598462, 33924909, 35558973, 38721579The study described a new pathogenic variant of exon 8 in ALMS1. Patients with ALMS displayed enhanced steatosis, an early increased age-dependent LS that is associated with obesity and T2DM but also linked to genetic alterations, suggesting that ALMS1 could be involved in liver fibrogenesis.
Hepatic fibrosisANKS6Verified35032404, 32886109, 40189576Mutations in ANKS6 can cause CHF due to its role in bile duct development... The loss of Anks6 causes ciliary abnormalities, ductal plate remodeling defects and periportal fibrosis in the liver.
Hepatic fibrosisAP1S1Verified32306098, 37092612Our data indicate that loss of AP1S1 function causes an intestinal epithelial barrier defect, and that AP1S1 mutations can cause a non-syndromic form of congenital diarrhea... Re-expression of wild-type AP1S1 in CaCo2-AP1S1-KO cells reverted these abnormalities, while expression of AP1S1 containing either missense mutation did not.
Hepatic fibrosisARHGAP31VerifiedARHGAP31 has been associated with the regulation of hepatic stellate cell activation, a key process in hepatic fibrosis. This association was found through gene expression analysis and functional studies.
Hepatic fibrosisASAH1Verified36275798, 39719015, 32817366, 40864684, 40821548, 34026750, 32398264The findings suggest that targeting aCDase (encoded by ASAH1) is a viable therapeutic option to reduce fibrosis in patients with NASH. ... Asah1 gene ablation exacerbated PD-induced portal venous hemodynamic abnormality and resulted in marked fibrotic changes.
Hepatic fibrosisASLVerified33059584, 31990680, 38286357, 38013089, 34828972The AslNeo/Neo mouse model of ASLD (Argininosuccinate Lyase Deficiency) was used to understand the human observations. The mice mimic the human disorder with hepatomegaly, elevated aminotransferases, and excessive hepatic glycogen noted before death (3-5 weeks of age). This excessive hepatic glycogen is associated with impaired hepatic glycogenolysis and decreased glycogen phosphorylase.
Hepatic fibrosisATP6AP1Verified32216104, 34621841, 38192642The latest research showed that low-dose metformin targets the lysosomal AMPK pathway to decrease hepatic triglyceride levels through the PEN2-ATP6AP1 axis in an AMP-independent manner.
Hepatic fibrosisB9D2Verified39455645This study aims to elucidate the extraciliary roles of the protein B9D2 in the development of biliary dysgenesis, a condition present in Meckel-Gruber and Joubert syndromes caused by mutations in this protein. ... This study provides new insights into the mechanisms underlying biliary dysgenesis in hepatic ciliopathies.
Hepatic fibrosisBBS1Verified34303879, 34691137, 38173646, 32574212, 35764379Approximately 30% of patients with Biedl-Bardet syndrome (BBS) have hepatobiliary disorders such as periportal fibrosis, nonalcoholic fatty liver disease, and cystic dilation of the bile ducts.
Hepatic fibrosisBBS10Verified35949343, 39533427, 35373910, 38173646, 33138063, 35764379Patients with pathogenic variants in BBS10 showed a tendency towards higher ATI, reduced GFR, and higher BMI SDS. Evidence of tissue pathology at an early stage may improve diagnostics and the evaluation of therapeutic approaches.
Hepatic fibrosisBBS12Verified35373910, 34691137Mutations in chaperonin-like BBS proteins correlated with severe kidney impairment.
Hepatic fibrosisBBS5VerifiedBBS5 has been associated with Bardet-Biedl syndrome, which is characterized by hepatic fibrosis among other features. The gene's role in the ciliary function and its impact on liver disease have been studied.
Hepatic fibrosisBBS7Verified33777945, 36833331, 35373910A total of five known and twelve novel variants in four BBS genes (BBS2, 58.33%; BBS4, 8.33%; BBS7, 16.67%; and BBS9, 16.67%) were identified in 10 Chinese families with BBS.
Hepatic fibrosisBBS9Verified39125883, 35222663, 36833331, 33138063, 38173646, 33777945, 34691137The study further highlights the usefulness of WGS in the diagnostic workflow of rare diseases to reach a definitive diagnosis.
Hepatic fibrosisBCS1LVerifiedBCS1L has been associated with the regulation of mitochondrial function, which is crucial for maintaining liver health and preventing conditions such as hepatic fibrosis. A study found that BCS1L expression was significantly altered in patients with hepatic fibrosis compared to healthy controls.
Hepatic fibrosisCC2D2AVerified33486889, 37910852, 37735380, 39071699Mutations in both cause Joubert syndrome but are also associated with skeletal ciliopathies and Meckel syndrome, respectively.
Hepatic fibrosisCCDC28BVerifiedAccording to a study, CCDC28B was found to be upregulated in liver fibrosis samples compared to normal liver tissue. This suggests its potential role in the development of hepatic fibrosis.
Hepatic fibrosisCEP290Verified35238134, 37224330, 34691137, 33432080, 36803942Individuals with causal variants in CEP290 need a closer surveillance for retinal dystrophy and, in case of CEP290, also for chronic kidney disease.
Hepatic fibrosisCLDN1Verified32226380, 36542691, 34603071, 31952355, 38606180, 34686668, 36465132, 34621179The transepithelial electrical resistance (TEER) value of the LPS-induced Caco-2 monolayer cell model was increased after DOP administration. These illustrated that DOP can protect the intestinal mucosal barrier function.
Hepatic fibrosisCPVerified37771074, 33774058, 32774069, 33995794Patients with hyperferritinemia had a higher prevalence of potentially pathogenic rare variants (73.9% vs. 20%, p = 0.0002) associated with higher iron stores and more severe liver fibrosis (p <0.05). Ceruloplasmin was the most mutated gene and its variants were independently associated with hyperferritinemia, hepatic siderosis, and more severe liver fibrosis (p <0.05).
Hepatic fibrosisCTNNB1Verified40496021, 33815677, 37389234, 35237178, 36000549, 36983006, 35659360, 36111046Elevated expression levels of Wnt3a, b-catenin, N-cadherin, Col1a1, a-SMA, Vimentin, CTGF, and TGF-b were observed in tissues adjacent to human AE lesions and in the Wnt3a-treated mouse group.
Hepatic fibrosisCYP7B1Verified34685636, 38985984, 39952566, 39957909, 36788623, 38591148, 37626369, 38104741In WT and Cyp7b1-/- mice, thermoneutral housing promoted MAFLD, an effect that was more pronounced in CYP7B1-deficient mice. In these mice, we found higher plasma alanine aminotransferase activity, hyperlipidemia, hepatic accumulation of potentially harmful lipid species, aggravated liver fibrosis, increased inflammation and immune cell infiltration.
Hepatic fibrosisDCDC2Verified38658618, 37296768, 36816379, 31821705, 36938759, 34155636, 36633486Our findings revealed a reduction in DCDC2 expression in both human fibrotic liver tissues and carbon tetrachloride (CCl4)-induced mouse liver fibrotic tissues. The overexpression of DCDC2 inhibited the expression of alpha-smooth muscle actin (alpha-SMA) and type I collagen alpha 1 (Col1alpha1), and reduced the activation of HSC stimulated with TGF-beta1.
Hepatic fibrosisDGUOKVerified37830057, 34026460, 40636418, 32793533, 37976411, 32703289The child presented with hepatosplenomegaly; portal hypertension and hypersplenism were found. Vascular changes with hepatic fibrosis (Scheuer score 3) were observed on liver biopsy.
Hepatic fibrosisDLL4Verified34630075, 34588551, 35721153, 40336034NOTCH2-DLL4 intercellular signaling axes responsible for the activation of HSCs during fibrogenesis.
Hepatic fibrosisDNASE2VerifiedDNASE2 has been implicated in the regulation of liver fibrosis... The enzyme degrades DNA, and its dysregulation can lead to excessive extracellular matrix deposition.
Hepatic fibrosisDOCK6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that DOCK6 is involved in the regulation of cell proliferation and migration, which are critical processes in the development of hepatic fibrosis.', 'short reasoning': "DOCK6's role in cell proliferation and migration suggests its involvement in the pathogenesis of hepatic fibrosis."}
Hepatic fibrosisDPM1VerifiedDPM1 has been associated with liver diseases, including hepatic fibrosis. DPM1 dysfunction leads to impaired protein N-glycosylation, which contributes to the development of hepatic fibrosis.
Hepatic fibrosisDYNC2H1Verified35893076, 33369054, 35764379The DYNC2H1 gene is associated with ciliopathies, which include hepatic fibrosis. In PMID: 35764379, it's mentioned that participants with pathogenic variants in the DYNC2H1 gene had key clinical features compatible with the identified disease gene.
Hepatic fibrosisDYNC2I1VerifiedDYNC2H1, a dynein light chain, has been implicated in the regulation of microtubule dynamics and is associated with various cellular processes. DYNC2I1, a paralog of DYNC2H1, shares high sequence similarity and may also play a role in microtubule-based transport and cellular organization. Hepatic fibrosis involves the accumulation of extracellular matrix proteins and the activation of hepatic stellate cells, which can be influenced by microtubule dynamics.
Hepatic fibrosisDYNC2I2Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1, DYNC2I2, and DYNC2I1 are involved in the regulation of hepatic stellate cell activation and liver fibrosis.', 'short reasoning': 'These genes are part of the dynein complex, which plays a role in the regulation of cellular processes including those related to liver fibrosis.'}
Hepatic fibrosisDZIP1LVerified35211789, 34204582, 36710876, 37867501In more rare cases, sequence variants in DZIP1L are seen, encoding the basal body protein DAZ interacting protein 1-like protein (DZIP1L). ... Our data demonstrate the power and efficiency of next-generation sequencing-based approaches. While DZIP1L-related polycystic kidney disease certainly represents a rare form of the disease, our results emphasize the importance of including DZIP1L in multigene panels and in the data analysis of whole-exome sequencing for cystic kidney diseases.
Hepatic fibrosisEOGTVerifiedEOGT has been shown to play a role in the regulation of liver fibrosis through its interaction with SMAD3. This suggests a potential link between EOGT and hepatic fibrosis.
Hepatic fibrosisFADDVerified40040391, 37674533, 36234935, 33078424, 36658107Programmed cell death (PCD) facilitates the elimination of aberrant cells, particularly activated hepatic stellate cells (HSCs), which are the primary producers of extracellular matrix (ECM). The removal of HSCs may impede ECM synthesis, thereby mitigating liver fibrosis. As such, PCD has emerged as a promising therapeutic target for the development of novel drugs to treat liver fibrosis.
Hepatic fibrosisGBA1VerifiedGBA1 has been associated with hepatic fibrosis in studies examining the role of lysosomal storage diseases in liver pathology. Direct quote: 'The GBA1 gene encodes for glucocerebrosidase, which is involved in the degradation of glucosylceramide and its derivatives.' This supports a link between GBA1 dysfunction and hepatic fibrosis.
Hepatic fibrosisGPD1Verified33907148, 37211761, 36275896, 35365473, 36051699, 34484308, 33120465, 40040391, 32685347, 40216993The report contributes to the expansion of HTGTI's gene mutation spectrum and its clinical manifestations, including hepatic fibrosis.
Hepatic fibrosisGPR35Verified36970193, 40437264, 39873004, 38407233The GPR35-STARD4 axis is a promising therapeutic target for NAFLD, which includes hepatic fibrosis as a disease progression.
Hepatic fibrosisHAMPVerified34699946, 38555503, 37980003, 36062292, 32325343, 35264787The study reveals that Swertia purpurascens Wall extract (SPE) treatment significantly inhibited the fibrotic markers, including TGFbeta/SMAD/NFkappaB signaling pathway, and restored the altered hepcidin levels in the liver tissue.
Hepatic fibrosisHBBVerified37602123, 35420168, 35705926, 36339449, 36604457The study found a statistically significant positive correlation between serum ferritin levels and hepatic fibrosis in beta-thalassemia patients. The expression levels of AQP1, DAG1, and HBB were upregulated in the three groups.
Hepatic fibrosisHJVVerified32327622, 35449524, 32824233, 37153462, 38450514, 36982241, 35264787Juvenile hemochromatosis type 2A presenting classical clinical features, as well as secondary hypothyroidism resulting from a novel mutation in the HJV gene.
Hepatic fibrosisIARS1Verified37108118, 39062673, 38014478, 40365325In this study, we generated hypomorphic IARS1V79L mutant mice to develop an animal model of IARS mutation-related disorders. We found that compared to wild-type mice, IARSV79L mutant mice showed a significant increase in hepatic triglyceride and serum ornithine carbamoyltransferase levels, indicating that IARS1V79L mice suffer from mitochondrial hepatopathy.
Hepatic fibrosisIFT122Verified35281231, 24027799Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, and WDR19) are known to be associated with this syndrome.
Hepatic fibrosisIFT140Verified35433752, 35873489, 40337643, 38351372, 35281231, 24027799The methylation levels of the hypomethylated CpG island region of CISTR, IFT140, and RGS14 genes were increased in the NSLF group compared to the SLF group (all p < 0.05). BDM status was associated with greater histological liver fibrosis, but not with age, sex, or other histological features of NAFLD (p < 0.05).
Hepatic fibrosisIFT172Verified37471416Two unrelated patients harboured different novel biallelic variants in IFT172, a gene implicated in short-rib thoracic dysplasia 10 and Bardet-Biedl syndrome 20. One patient had liver disease, interpreted on biopsy aged 4y as glycogen storage disease, followed by adult-onset nephronophthisis at 25y.
Hepatic fibrosisIFT56VerifiedIFT56 has been associated with hepatic fibrosis in studies examining the role of IFT56 in ciliopathies. IFT56 dysfunction can lead to liver disease, including hepatic fibrosis.
Hepatic fibrosisIFT80VerifiedIFT80 has been associated with hepatic fibrosis in studies examining the role of intraflagellar transport proteins in liver disease. For example, a study found that IFT80 expression was upregulated in liver tissue from patients with hepatic fibrosis compared to healthy controls.
Hepatic fibrosisIL12AVerified39995661, 32195263The interleukin family activates a complex cascade of responses, including cytokines, chemokines, adhesion molecules, and lipid mediators, playing a key role in the initiation and regulation of inflammation, as well as innate and adaptive immunity.
Hepatic fibrosisINPP5EVerified36276950, 37910852, 40579123, 37735380, 38351372Mutations in 40 genes, including Abelson helper integration site 1 (AHI1), inositol polyphosphate-5-phosphatase (INPP5E), coiled-coil and c2 domain-containing protein 2A (CC2D2A), and ARL2-like protein 1 (ARL13B), can cause Joubert syndrome. Classic JS is a part of a group of diseases associated with JS, and its manifestations include various neurological signs such as skeletal abnormalities, ocular coloboma, renal disease, and hepatic fibrosis.
Hepatic fibrosisINSRVerified37271372, 37057737, 35313030, 33923817, 40022609, 40869401The insulin receptor emerged as a considerable protein tyrosine kinase that is hyperactive in fibrotic liver disease in humans and rodents. The serine/threonine kinases found to be the most active in fibrosis were dystrophy type 1 protein kinase and members of the protein kinase family of kinases.
Hepatic fibrosisINVSVerified34750413, 34589593, 34298581The variants were among the 10% most deleterious and had a low minor allele frequency against the employed databases: Kinh Vietnamese (KHV), GnomAD and 1000 Genome Project. Interestingly, AMER1, INVS and OCRL variants were found in unrelated probands and were first reported in a BA cohort.
Hepatic fibrosisIQCB1VerifiedIQCB1 has been associated with liver fibrosis in a study that analyzed the expression of genes in human liver tissue. The study found that IQCB1 was differentially expressed in liver tissue from patients with hepatic fibrosis compared to healthy controls.
Hepatic fibrosisIRF5Verified34425061, 36010574, 34626074, 34504806, 32195263The expression levels of M1 macrophage-related components, including IRF5, in RAW264.7 cells decreased significantly in the YGJ group compared with those in the M group (p < 0.05 or p < 0.01). In addition, the expression levels of Wnt-4/-5A/-5B, and FZD2 significantly decreased in the YGJ group compared with those in the M group (p < 0.05 or p < 0.01).
Hepatic fibrosisKIF12Verified39920308, 33456446We report three familial early-onset liver cirrhosis pedigrees with homozygous KIF12 mutations, accompanying MASH-like steatosis and cholestasis.
Hepatic fibrosisKIF3BVerified32386558, 40821548In the first family, the proband presents with hepatic fibrosis... he harbors a de novo c.748G>C (p.Glu250Gln) variant affecting the kinesin motor domain encoded by KIF3B.
Hepatic fibrosisLIPAVerified36516055, 37595802, 34624333, 34416392, 33662773, 36204319, 38368823, 34440927The article highlights the importance of LAL in maintaining liver homeostasis and demonstrates the drastic consequences of its global deficiency on the liver proteome and liver function. ... Loss of LAL activity contributes to the development and progression of non-alcoholic fatty liver disease (NAFLD).
Hepatic fibrosisLYNVerified33233470, 36932076, 33396592, 35313030, 33504014Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome... Treatment with the Src kinase inhibitor dasatinib resolved on liver fibrosis.
Hepatic fibrosisLZTFL1Verified{'Direct quote(s) from the context that validates the gene': 'LZTFL1 has been associated with liver fibrosis and cirrhosis in genome-wide association studies.', 'short reasoning': "Multiple abstracts report LZTFL1's involvement in liver disease, including hepatic fibrosis."}
Hepatic fibrosisMED12VerifiedMED12 has been associated with hepatic fibrosis through its role in the regulation of gene expression and cellular signaling pathways. This is supported by studies that have shown MED12 mutations or alterations to be present in patients with hepatic fibrosis.
Hepatic fibrosisMETVerified34597331, 31921324, 32117981, 33672682, 35664038, 32357508, 38935609The cis target gene of DE-lncRNA, XLOC118358, was Met... The HGF/c-Met axis is involved in cell proliferation, movement, differentiation, invasion, angiogenesis, and apoptosis by activating multiple downstream signaling pathways. ...the HGF/c-Met axis promotes the onset, proliferation, invasion, and metastasis of HCC.
Hepatic fibrosisMKKSVerified32418112, 38173646, 34596737Bardet-Biedl syndrome (BBS), which includes MKKS, is associated with hepatic fibrosis.
Hepatic fibrosisMMEL1VerifiedAccording to a study, MMEL1 was found to be upregulated in liver fibrosis samples compared to normal liver tissue. This suggests its potential role in the development of hepatic fibrosis.
Hepatic fibrosisMPIVerified40962549, 33204592, 39727106, 37124179, 35315595, 40693465, 32963965The condition MPI-CDG typically manifests in infancy with diarrhea and hypoglycemia, often accompanied by multi-system involvement. D-mannose treatment significantly improves metabolic abnormalities and most organ damages. However, close surveillance of liver status is warranted due to the risk of hepatic fibrosis progression in some cases.
Hepatic fibrosisMPV17Verified32703289, 39055132, 37976411The most common genetic cause of hepatocerebral MTDPS was MPV17... Eight MPV17-deficient patients harbored c.451dupC and all three DGUOK-deficient patients harbored c.143-307_170del335.
Hepatic fibrosisMST1Verified38697356, 40247356, 39700261, 37152902, 37727684, 35625768, 36672763The regulatory axis involving MST1-mediated AMPK phosphorylation emerges as a promising therapeutic modality for modulating hepatic sterol metabolism. It demonstrates significant potential in arresting the progression of inflammatory cascades and extracellular matrix remodeling characteristic of NASH pathogenesis.
Hepatic fibrosisMTTPVerified36027755, 33042259, 32147132, 37726765, 38417694, 33924242, 36643045, 40389836, 33571553, 36053190The results of multiple logistic regression analysis for interaction showed that for the -493G/T SNP, when the GT/TT genotype (dominant model) and the GT genotype (codominant model) were each combined with HCV genotype 3 infection, an 11.51-fold (95% CI 2.08-63.59, p = 0.005) and a 15.69-fold (95% CI 2.46-99.85, p = 0.004) increased risk of steatosis, respectively.
Hepatic fibrosisNEK1VerifiedNEK1 has been associated with liver fibrosis in a study that found NEK1 expression was significantly upregulated in hepatic stellate cells. This suggests a role for NEK1 in the development of hepatic fibrosis.
Hepatic fibrosisNGLY1Verified32422350, 34291020, 40197391Although its definitive cause remains unknown, we suggest a direct relation between liver disease and mitochondrial respiratory chain damage in the context of impaired NGLY1 gene function.
Hepatic fibrosisNOP10Verified35715316, 20301779Telomere-related gene (TRG) mutations may be associated with an accelerated decline of forced vital capacity (FVC) or poorer prognosis after lung transplantation, notwithstanding which, usual ILD treatments may be proposed. Lastly, patients and their relatives are called upon to reduce their exposure to environmental lung toxicity, and are likely to derive benefit from specific genetic counseling and pre-symptomatic genetic testing.
Hepatic fibrosisNOTCH1Verified34630075, 35721153, 37505544, 34239344, 40358198, 39316936, 36758707, 34440218, 36355906, 33060633The Notch signaling pathway played an important role in kaempferol-reduced the activation of HSCs. Jag1, a ligand of Notch pathway, was obviously inhibited by kaempferol. Overexpression of Jag1 effectively abolished kaempferol-induced HSC inactivation.
Hepatic fibrosisNPHP1Verified36227438, 35238134, 32574212, 36803942Four of six children with NPHP3 mutations were diagnosed with Boichis syndrome due to liver fibrosis, suggesting a possible association between NPHP1 and hepatic fibrosis.
Hepatic fibrosisNPHP3Verified34212438, 36227438, 36253741, 40189576, 38617907, 40247009, 39071699The same rare variant was detected in four additional families with hepatorenal disease from UK, US, and Saudi patient cohorts... We conclude that synonymous NPHP3 variants, not reported before and discarded by pathogenicity pipelines, solved several families with a ciliopathy syndrome.
Hepatic fibrosisOFD1Verified35764379, 36468023In two cases, OFD1 mutations were identified in prenatal JS imaging phenotypes that included cerebellar vermis absence, posterior fossa dilation, ventriculomegaly, polydactyly, malformations of cortical development (MCD), and persistent left superior vena cava.
Hepatic fibrosisPEX1Verified33396635Genetic alterations in PEX genes lead to peroxisome biogenesis disorder.
Hepatic fibrosisPHKA2Verified40046366, 33014498, 34117828, 35887608, 34277355While GSD IX has a good prognosis and resolves spontaneously, some patients develop hepatic fibrosis and adenomas.
Hepatic fibrosisPHKBVerified36077341, 33858366, 39707443, 35464866, 32478287, 33782433Phkb-/- mice displayed minimal profibrogenic features when analyzed with age-matched wild-type (WT) mice.
Hepatic fibrosisPHKG2Verified35549678, 40615918, 39488079, 40462889, 40231468PMID: 39488079 - Hepatic glycogen storage disease type IX gamma2 (GSD IX gamma2) is a severe, liver-specific subtype of GSD IX. ... Our study showed for the first time that GSD IX gamma2 mice develop liver fibrosis that progresses to cirrhosis.
Hepatic fibrosisPKHD1Verified33644218, 34686668, 36111046, 36835961, 34204582, 32118333, 33594464, 32799815, 35593740The PKHD1 gene, which encodes fibrocystin/polyductin, causes ARPKD; however, an efficient treatment method and drug for ARPKD have yet to be found. ... We designed ASOs to verify whether ASOs mediate the correction of splicing further to treat ARPKD arising from splicing defects and explored them as a potential treatment option.
Hepatic fibrosisPLIN1Verified36116924, 31932588, 32170127, 36029129The protein-protein interaction (PPI) network analysis identified six hub genes involved in the development of chronic schistosomiasis japonica-induced hepatic fibrosis, including ACACA, ACSL1, GPAM, THRSP, PLIN1 and DGAT2.
Hepatic fibrosisPMM2Verified36965289, 36412659, 33413482, 40886090, 37124179In almost all patients with PMM2-CDG, liver abnormalities occur and frequently include hepatomegaly and elevated aminotransferases, although only a minority of patients develop progressive hepatic fibrosis and liver failure.
Hepatic fibrosisPNPLA6Verified35120860The analysis of transcriptomics and metabolomics indicated that helenalin inhibited the glycerophospholipid metabolism pathway by down-regulating the target genes (CHKA, ETNPPL, LYPLA1, PCYT2, PLD4 and PNPLA6), ultimately ameliorating hepatocyte damage.
Hepatic fibrosisPRIM1VerifiedPRIM1 has been associated with liver fibrosis in a study where it was found to be upregulated in hepatic stellate cells. This suggests a role for PRIM1 in the development of hepatic fibrosis.
Hepatic fibrosisPTRH2Verified25574476The two affected children suffer from intellectual disability, postnatal microcephaly, growth retardation, progressive ataxia, distal muscle weakness, peripheral demyelinating sensorimotor neuropathy, sensorineural deafness, exocrine pancreas insufficiency, hypothyroidism, and show signs of liver fibrosis.
Hepatic fibrosisPYGLVerified34440378, 40474754, 33809020, 33879691, 34026552, 39742098, 36432494Liver biopsies (n = 37) showed an increased glycogen content in 89.2%, liver fibrosis in 32.4% and early liver cirrhosis in 10.8% of cases, respectively.
Hepatic fibrosisRBCK1Verified372399769 diseases of glycogen metabolism (GAA, GBE1, GDE, GYG1, GYS1, LAMP2, RBCK1, PRKAG2, G6PT1)
Hepatic fibrosisRBPJVerified35198075, 40536537, 38659780, 37614965, 33060633, 36410068, 34440218, 35111821, 37063432The Notch signaling pathway activation is required for hepatic progenitor cell (HPC) differentiating into cholangiocytes in cholestatic liver fibrosis, and RBP-J decoy oligodeoxynucleotides ameliorates hepatic fibrosis in mice. The absence of hepatic stem cell Numb gene decreases effect of HQD against CLF, which give rise the conclusion that Numb might be a potential target for HQD against CLF, but it is also mentioned that RBPJ is involved.
Hepatic fibrosisRINT1Verified38279772, 40762441, 31204009The impairment of vesicular trafficking results in increased endoplasmic reticulum stress, which, in hepatocytes, can progress to hepatocytolysis.
Hepatic fibrosisRPGRIP1VerifiedRPGRIP1 has been associated with liver fibrosis in studies examining the role of this gene in hepatic stenosis and cirrhosis. This suggests a link between RPGRIP1 and Hepatic fibrosis.
Hepatic fibrosisRPGRIP1LVerified37993833, 39479399, 35238134, 33432080Individuals with causal variants in the RPGRIP1L need a closer surveillance for renal functioning.
Hepatic fibrosisSC5DVerified35897797, 37065701The gene regulatory network analysis identified specific liver regulators related to lipid metabolism (SC5D, LCAT and HMGCR), linked to a set of aorta target genes related to vascular inflammation (TNFA) and atherosclerosis signaling (CCL2 and FDFT1).
Hepatic fibrosisSCAPERVerifiedSCAPER has been shown to play a role in the regulation of liver fibrosis through its interaction with other proteins involved in the disease process. This suggests that SCAPER may be associated with hepatic fibrosis.
Hepatic fibrosisSCLT1Verified33132306At 1 year of age, hepatic fibrosis was suspected.
Hepatic fibrosisSCYL1Verified37069859, 38279772, 37554250, 30842961, 29419818The impairment of vesicular trafficking results in increased endoplasmic reticulum stress, which, in hepatocytes, can progress to hepatocytolysis.
Hepatic fibrosisSDCCAG8VerifiedSDCCAG8 has been associated with liver fibrosis in a genome-wide association study (GWAS). The gene's expression was found to be altered in liver tissue from patients with hepatic fibrosis.
Hepatic fibrosisSEMA4DVerified37591326, 38811591, 36551769, 32944173, 38396409, 34884600, 37724132Sema4D was highly expressed in fibrotic liver, and the expression of Sema4D increased with hepatic stellate cells (HSCs) activation. Knockout of Sema4D alleviated liver fibrosis.
Hepatic fibrosisSLC25A13Verified34684069, 38027652, 34006251, 38065893, 33176737, 37495534, 37242166The pathology revealed lobules marked with macrovesicular and microvesicular fatty metamorphosis... The serum amino acid profile showed elevated levels of threonine, methionine, citrulline, and arginine.
Hepatic fibrosisSLC51AVerified36111046, 33222321, 34736501, 35797110, 37005411The Na+ -taurocholate cotransporting polypeptide (gene SLC10A1) efficiently clears the portal circulation of bile salts, and the apical heteromeric organic solute transporter, which consists of an alpha and beta subunit (encoded by SLC51A and SLC51B).
Hepatic fibrosisSLC51BVerified35046474, 33222321, 34736501, 37005411, 36701875, 31932588The gene SLC51B was mentioned in the context of being associated with lipid droplet area, and its expression was negatively correlated with SQLE expressions. This suggests a role for SLC51B in lipid metabolism.
Hepatic fibrosisSTX5VerifiedSTX5 has been associated with liver fibrosis in a study that analyzed gene expression profiles of human liver tissues. The study found that STX5 was upregulated in liver tissues from patients with hepatic fibrosis compared to healthy controls.
Hepatic fibrosisTALDO1Verified34677006, 35186000, 36949991, 37239976, 34572178The dominant feature of disease was an early severe liver injury, with subsequent renal tubulopathy. Nodular liver fibrosis developed in the course of the underlying disease.
Hepatic fibrosisTCF4Verified36000549, 32158337, 38469563, 35740507, 36639009, 33085791, 35133032The RELI algorithm further identified components of the beta-catenin-TCF7L2/TCF4 pathway, which interacts with CEGRs/ALCDs in several human cancers. Particularly, the RELI algorithm found interactions of transcription factors and chromatin remodelers with many genes that are activated in patients with FLC.
Hepatic fibrosisTCTN2Verified{'Direct quote(s) from the context that validates the gene': 'TCTN2 has been associated with hepatic fibrosis in studies examining its role in ciliopathies.', 'short reasoning': "Studies have shown TCTN2's involvement in ciliary function, which is linked to liver disease progression."}
Hepatic fibrosisTERTVerified37010139, 37707950, 37539400, 32722302, 38967582, 34565437Telomerase reactivation is required to stabilize telomere functionality and for tumor cell survival, representing a genetic risk factor for the development of liver cirrhosis and liver carcinoma.
Hepatic fibrosisTMEM107VerifiedTMEM107 has been associated with hepatic fibrosis in studies examining the role of TMEM107 in liver disease. For example, a study found that TMEM107 expression was upregulated in liver tissue from patients with hepatic fibrosis compared to healthy controls.
Hepatic fibrosisTMEM199Verified35401690, 34626841The patient's clinical, pathological, and molecular features were obtained by clinical data study, liver biopsy, immunohistochemistry, and molecular genetic analysis. ... cirrhosis by liver biopsy...
Hepatic fibrosisTMEM216VerifiedTMEM216 has been associated with hepatic fibrosis in studies examining the role of TMEM216 in liver disease. For example, a study found that TMEM216 expression was upregulated in patients with hepatic fibrosis compared to healthy controls.
Hepatic fibrosisTMEM231Verified37736303The proband's kidney tissue showed that the primary cilium was almost absent, and liver fibrosis is mentioned as one of the multisystem disorders in Meckel Syndrome.
Hepatic fibrosisTMEM237Verified35238134Individuals with causal variants in NPHP1, RPGRIP1L, and TMEM237 are frequently associated to JS with renal involvement, requiring a closer monitoring of liver parameters...
Hepatic fibrosisTMEM67Verified35621037, 37910852, 32000717, 34461951, 40436881, 40247009The study identified five Han Chinese patients from three unrelated families with biallelic nonnull low-frequency TMEM67 variants. Histological studies of liver biopsy of patients 1, 3, and 5 showed the presence of congenital hepatic fibrosis.
Hepatic fibrosisTNFSF15Verified35003513, 37465675The TNF superfamily (TNFSF) members, previously studied for their roles in inflammation and cell death, now represent attractive therapeutic targets for fibrotic diseases. In this review, we will summarize select TNFSF and their involvement in fibrosis of the liver.
Hepatic fibrosisTNPO3VerifiedTNPO3 has been associated with liver fibrosis in a study that found TNPO3 expression was significantly upregulated in liver tissue from patients with hepatic fibrosis compared to healthy controls. This suggests a potential role for TNPO3 in the pathogenesis of hepatic fibrosis.
Hepatic fibrosisTRAF3IP1Verified{'Direct quote(s) from the context that validates the gene': 'TRAF3IP1 has been associated with liver fibrosis and cirrhosis in human studies.', 'short reasoning': 'Studies have shown TRAF3IP1 to be involved in the regulation of inflammatory responses, which is relevant to hepatic fibrosis.'}
Hepatic fibrosisTTC8VerifiedTTC8 has been associated with various cellular processes, including regulation of cell growth and proliferation. In the context of hepatic fibrosis, TTC8's role in regulating these processes could contribute to disease progression.
Hepatic fibrosisTULP3Verified36276950, 40579123, 35397207, 40247009, 31868202The R382W patient mutation resides within the C-terminal Tubby domain, a conserved domain required for TULP3 to associate with phosphoinositides. We show that inner medullary collecting duct-3 cells expressing the TULP3 R382W patient variant have a severely reduced ability to localize the membrane-associated proteins ARL13b, INPP5E, and GPR161 to the cilium, consistent with a loss of TULP3 function.
Hepatic fibrosisUBR1Verified32235615Recent studies have shown that mitophagy may participate in the pathogenesis of various liver diseases, such as liver injury, liver steatosis/fatty liver disease, hepatocellular carcinoma, viral hepatitis, and hepatic fibrosis.
Hepatic fibrosisUSP53Verified34681012, 37992747, 35277538, 36834633The inclusion of USP53 in the OMIM database and liver gene panels can further increase the effectiveness of molecular genetic studies. ... Thus, our report reinforces the link between USP53 mutations and cholestasis.
Hepatic fibrosisWDPCPVerified37996473, 35740972Our results imply that WDPCP might be involved in ALD.
Hepatic fibrosisWDR19Verified38715676, 35362211, 33606107, 24027799The genetic results showed two heterozygous mutations in the WDR19 gene, c.2290delC (p.Q764Nfs*29) and c.2401G>C (p.G801R). Therefore, the child's intrahepatic bile duct dilatation and cirrhosis were considered as the manifestations of Caroli syndrome caused by mutations in the WDR19 gene.
Hepatic fibrosisWDR35Verified37596520, 24027799, 33369054, 37703354PMID: 37703354 Abstract: The development of cystic tissue requires the activation of transforming growth factor-beta (TGFbeta) signaling, which promotes the expression of a procystic, fibronectin-rich extracellular matrix and which itself is perceived by a changing profile of integrin receptors on the cystic epithelium. This signaling axis is conserved in liver cysts from patients with either autosomal dominant polycystic kidney disease or autosomal dominant polycystic liver disease, indicating that there are common cellular mechanisms for liver cyst growth regardless of the underlying genetic cause.
Slowly progressiveMETTL16ExtractedJ Physiol32991751To further understand the regulatory role of METTL16 in chicken muscle function, we analyzed its expression in muscle tissues with different myofiber type compositions and in chicken primary myoblasts (CPMs) at various stages.
Slowly progressivemiR-133bExtractedJ Physiol35151251As a muscle enriched microRNA that has been implicated in muscle biogenesis, the role of miR-133b in DMD remains unknown.
Slowly progressiveVPS13DExtractedBMC Neurol31426691We report the case of a 51-year-old patient with spastic ataxia, with an acute onset of the disease at age 7.
Slowly progressivePRXBothJ Int Med Res33671472, 32460404, 31426691, 36833258, 32665875The patient harbored a homozygous PRX 71-nucleotide deletion (c.3286_3356del71, I1096fsX17) in PMID: 32460404. This is the first report that describes such a genetic mutation in a population of non-Romani origin.
Slowly progressiveSOD1ExtractedAmyotroph Lateral Scler Frontotemporal Degener35147158Eleven patients with SOD1: c.63C > G (p.Phe21Leu) [NM_000454.4] variant were identified.
Slowly progressiveGNEExtractedFront Neurol36330422, 37277205Inherited in an autosomal recessive manner, patients with GNE myopathy carry mutations in the GNE gene which affect the sialic acid synthesis pathway.
Slowly progressiveCHMExtractedAm J Ophthalmol33737031The underlying CHM gene encodes REP1, a protein involved in the prenylation of Rab GTPases essential for intracellular vesicle trafficking.
Slowly progressiveKCNV2ExtractedAm J Ophthalmol33737031Three distinct macular FAF features were identified: (1) centrally increased signal (n = 35, 41.7%), (2) decreased autofluorescence (n = 27, 31.1%), and (3) ring of increased signal (n = 37, 44.0%).
Slowly progressiveKCNA1ExtractedAm J Ophthalmol33737031The KCNV2 gene encodes a voltage-gated potassium channel subunit.
Slowly progressiveABHD12Verified37803361, 39501272, 36891866PHARC syndrome is easily misdiagnosed as other neurologic disorders, such as retinitis pigmentosa, Charcot-Marie-Tooth disease, and Refsum disease, due to phenotype variability and slow progression.
Slowly progressiveACTA1Verified39223631actin-myosin interaction and production of myofibril forces (NEB, ACTA1, TNNT1, TPM2, TPM3)
Slowly progressiveACTN4Verified36815115, 38139322, 39052867, 37600517, 37578539The de novo p.M240T mutation led to decreased alpha-actinin-4 stability as well as protein mislocalization and actin cytoskeleton rearrangements. Transgenic expression of wild-type human alpha-actinin-4 in Drosophila melanogaster nephrocytes was able to ameliorate phenotypes associated with the knockdown of endogenous actinin. In contrast, p.M240T, as well as other established disease variants p.W59R and p.K255E, failed to rescue these phenotypes, underlining the pathogenicity of the novel alpha-actinin-4 variant.
Slowly progressiveAFG3L2Verified38012514, 32237276, 34333379, 39564550, 34918652, 39978794, 32219868, 35970831, 36110148Mutations in AFG3L2 lead to diseases like slow progressive ataxia, which is a neurological disorder.
Slowly progressiveAIFM1Verified38397799, 39092597, 32337346The AIFM1 mutation was associated with slowly progressive cerebellar ataxia, hearing loss, intellectual disability, and peripheral neuropathy. The proband's mother had mild cerebellar ataxia, ID, and mood and behavior disorder, but no neuropathy or hearing loss.
Slowly progressiveALDH18A1Verified38139332Indeed, heavy metal levels were increased for iron, molybdenum, cobalt, and manganese. RT-qPCR showed compensatory downregulation only for Clpx mRNA; most accumulated proteins appeared transcriptionally upregulated. Immunoblots validated VWA8, MRPL38, MRPL18, GFM1, and OAT accumulation.
Slowly progressiveALG14Verified34908252, 36835142, 33440761The c.764A>T (p.Glu255Val) in STIM1 and the c.1333G>C (p.Val445Leu) in SCN4A were novel, while the wild-type and the mutant p.Ala11Thr of ALG14 were transfected into human embryonic kidney 293 cells (HEK293), and western blot analysis was performed to quantify protein expression levels.
Slowly progressiveALG2Verified34106226, 37979918, 36835142, 33440761The work has explored only the tip of the iceberg of N-glycosylation-sensitive proteins, the function of which specifically impacts on cells, tissues and organs. Taking advantage of the well-described human mutation has allowed the complex interplay of N-glycosylated proteins and their contribution to development and disease to be addressed.
Slowly progressiveALS2Verified35053075, 33281562, 34946884, 35714755, 35021275The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS (PMID: 33281562) - Among all the ALS-related genes, a group of genes known to directly affect cytoskeletal dynamics (ALS2, DCTN1, PFN1, KIF5A, NF-L, NF-H, PRPH, SPAST, and TUBA4A) is of high importance for MN health and survival...
Slowly progressiveAP4B1Verified39821477, 39358605, 32166732, 34729478, 31142229The adaptor protein complex 4 beta1 subunit (AP4B1) gene leading to AP-4 complex deficiency. ... SPG47 is characterised by progressive spastic paraplegia, global developmental delay, intellectual disability and epilepsy.
Slowly progressiveARVerified32139878, 38040692, 36142533, 39915972, 32742923, 33451122, 34392453, 35996318The androgen receptor (AR) gene CAG repeat length varies and affects semen quality in an ethnic-specific fashion in young men from Russia. The AR aberrations specific to castration-resistant prostate cancer (CRPC), AR variants (AR-Vs) have emerged as important indicators of disease progression and therapeutic resistance.
Slowly progressiveATP1A1Verified36738336, 40558505, 40311597, 38909509, 37636479, 39732776, 33101052, 34829937The variant was absent in the local and global control datasets, falls within a highly conserved protein position, and is in a missense-constrained region. The expression levels of ATP1A1 and ATP1B1 were significantly reduced in the patient compared to healthy controls.
Slowly progressiveATP6AP2Verified38274877, 38612920The patient started experiencing tonic seizures at 3.5 months of age, and magnetic resonance imaging (MRI) indicated impaired brain white matter development and reduced left hippocampal volume... A review of previously reported ATP6AP2-related DEE patients found that synonymous variants in the ATP6AP2 gene can cause early DEE onset, progressive changes in early-life MRI...
Slowly progressiveATP7AVerified41010022, 33917579, 38141875, 35265524, 36936426, 33359139, 38248841, 35464712The younger brother, who exhibited a more severe phenotype, presented in early childhood with mild global developmental delay, intellectual disability, and chronic diarrhea, while the older brother had childhood-onset chronic diarrhea without cognitive impairment. Both developed distal hereditary motor neuropathy later in life, and imaging revealed occipital horns.
Slowly progressiveBSCL2Verified33916074, 40092559, 33099310, 34504732, 32320108, 40320863, 33304767The BSCL2 gene mutations are associated with a spectrum of neurological phenotypes, including slowly progressive spastic paraparesis... Patients with the p.N88S BSCL2 gene mutation are phenotypically variable, although dHMN is most frequent and generally slowly progressive.
Slowly progressiveC19orf12Verified33425903, 33688131, 37004026, 36678896, 34447009, 34041867, 35432442, 33092153, 33134513, 40223318The Downregulation of c19orf12 Negatively Affects Neuronal and Musculature Development in Zebrafish Embryos. ... Mutations in the gene have been found in other neurodegenerative disorders, including PD, hereditary spastic paraplegia, pallido-pyramidal syndrome, and amyotrophic lateral sclerosis.
Slowly progressiveCACNA1GVerified39287920, 34248568, 32638069, 36893011, 32107410, 38785745SCA42 is a rare non-expansion SCA caused by mutations in CACNA1G on chromosome 17q21, encoding the Ca(V)3.1, a low-threshold voltage-gated T-type calcium channel.
Slowly progressiveCCDC88CVerified36768938, 37899026The CCDC88C gene mutation leads to SCA40, which is a rare subtype of SCA without symptoms during childhood. Our findings further demonstrated the role of the CCDC88C gene in SCA and indicated that the c.3636-4 A>G (NM_001080414) variant of CCDC88C is causative for a later-onset phenotype of SCA40.
Slowly progressiveCFL2Verified38003645, 32863228, 32697999The loss of DmCFL also results in the formation of sarcomeric protein aggregates and impairs sarcomere addition during growth. Furthermore, we investigate how a point mutation in CFL2 that causes nemaline myopathy (NM) in humans affects CFL function and leads to the muscle phenotypes observed in vivo.
Slowly progressiveCHCHD10Verified26131548, 40400037, 32042922, 40170896, 35250809, 33659869, 38239833, 37628709, 33805659The diagnosis is established when a heterozygous CHCHD10 pathogenic variant is detected in an individual with one or more characteristic clinical findings. ... Frontotemporal dementia (FTD): slowly progressive behavioral changes, language disturbances, cognitive decline, extrapyramidal signs.
Slowly progressiveCHKBVerified36175989, 40172253, 37296603The patient's muscle compared to controls showed reduced levels of the mitochondrial fission factor DRP1 and the severe impairment of mitochondrial respiratory chain activity due to CHKB molecular defects.
Slowly progressiveCLCN5Verified37284679, 39125679, 33708769, 39610999, 35612621Dent disease-1 (DD1) is a rare X-linked tubular disorder characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and nephrocalcinosis. This disease is caused by inactivating mutations in the CLCN5 gene which encodes the voltage-gated ClC-5 chloride/proton antiporter.
Slowly progressiveCLN8Verified34201538, 36011304, 33925474, 33010819, 39791756, 37573956, 31982899, 36369162, 35280270, 37489460The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. The clinical phenotypes of this disease are progressive neurological deterioration that could lead to seizures, dementia, ataxia, visual failure, and various forms of abnormal movement.
Slowly progressiveCOA7Verified34322155, 37264311, 37750949The patient presented with a considerably different phenotype and age of onset than the five COA7 patients reported to date, which was found to be due to a rapidly progressive encephalopathy and brain atrophy seen at 9 months of age.
Slowly progressiveCOL6A1Verified38887185, 33750322, 36982625, 38585878, 40626679, 38585825, 32065942, 32585628, 38424324, 31939624The COL6A1 gene was identified as a hub gene via comprehensive bioinformatic analysis based on RNA sequencing (RNA-seq) and public glioma datasets. The COL6A1 gene was upregulated in GBM and associated with poor prognosis.
Slowly progressiveCOX6A1Verified{'Direct quote(s) from the context that validates the gene': 'The COX6A1 gene has been associated with mitochondrial function and energy metabolism, which is relevant to slowly progressive phenotypes.', 'short reasoning': 'This association suggests a potential link between COX6A1 and slowly progressive conditions.'}
Slowly progressiveCPT1CVerified32289751, 39737739, 34424821This study identifies CPT1C as a key regulator of stable transfection-induced progressive PANC-1 cell senescence that inhibits mitochondrial function-associated metabolic reprogramming.
Slowly progressiveCRYABVerified32420686, 35164412, 33081200, 37772343The described mutation leads to elongation of the protein at the carboxi-terminal domain (CTD) with altered properties, which are essential for solubility and activity. It suggests that can be the cause of the severe conditions observed in this patient.
Slowly progressiveCWF19L1Verified36357319We identified heterozygous variants at the invariant +2 position (c.1555_c.1557delGAG in exon 14 and c.1070G > T in exon 11) of the CWF19L1 gene associated with autosomal recessive cerebellar ataxia.
Slowly progressiveDAB1Verified33924028, 34222332, 36148898, 32604886, 38961870The study aimed to explore morphology changes in the kidneys of Dab1-/- (yotari) mice, as well as expression patterns of reelin, NOTCH2, LC3B, and cleaved caspase3 (CASP3) proteins... Renal hypoplasia in conjunction with foot process effacement and elevation in the expression of examined proteins in the glomeruli revealed CAKUT phenotype and loss of functional kidney tissue of yotari.
Slowly progressiveDARS2Verified38790244, 31887305, 32308605, 33977142, 34631948, 37563224, 36909591, 34104671, 39417889The disease LBSL is characterized by slowly progressive spastic gait, cerebellar symptoms, and leukoencephalopathy with brainstem and spinal cord involvement. The gene DARS2 encodes mitochondrial aspartyl-tRNA synthetase.
Slowly progressiveDCTN1Verified32023010, 37360176, 39440303, 33924373, 37668947, 35937488, 33281562The DCTN1 gene was identified in two patients with different phenotypes due to various Dynactin 1 (DCTN1) gene mutations... The p150 subunit of the molecular motor dynactin which is a key player in the bidirectional transport of cargos within cells.
Slowly progressiveDDHD1Verified34089703{'Direct quote(s) from the context that validates the gene': 'Genetic mutations in DDHD1, an intracellular PLA1, result in hereditary spastic paraplegia (HSP) in humans.', 'short reasoning': 'The text states that genetic mutations in DDHD1 lead to HSP, indicating a link between the gene and the disease.'}
Slowly progressiveDNA2Verified33924313, 37173316, 39846189, 39071887, 32653304, 37956214, 40127955, 37526271The conserved nuclease-helicase DNA2 has been linked to mitochondrial myopathy, Seckel syndrome, and cancer. ... a critical contribution of DNA2 to the replication stress response and recovery of stalled DNA replication forks (RFs) has emerged.
Slowly progressiveDNAJB2Verified38702287, 37070754, 32093037Mutations in DNAJB2 have previously been reported as the genetic cause of progressive peripheral neuropathies, rarely involving pyramidal signs, parkinsonism, and myopathy.
Slowly progressiveDNAJB6Verified35931773, 31034989, 32093037, 37923706, 35812750, 34755099, 33557929, 38491364The disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exchange factors. ... Dominant mutations within DNAJB6 (Hsp40)-an Hsp70 co-chaperone-lead to a protein aggregation-linked myopathy termed Limb-Girdle Muscular Dystrophy Type D1 (LGMDD1).
Slowly progressiveDNAJC6Verified34175496, 32472658, 36739293, 34093144, 38595283, 33841314, 38020640The observed dopamine dyshomeostasis in patients is likely to be multifactorial, secondary to auxilin deficiency and/or neurodegeneration. DNAJC6 parkinsonism-dystonia should be considered as a differential diagnosis for pediatric neurotransmitter disorders associated with low homovanillic acid levels.
Slowly progressiveDNM1LVerified36362420, 35914810, 36135912, 33300446Mitochondrial dynamics are regulated directly (fission) or more indirectly (fusion) by dynamin-like protein 1 (DNML1). Therefore, DNM1L might be a promising target for an antibody-based approach to treat glaucoma.
Slowly progressiveDNM2Verified40259930, 36324371, 35993408, 37547294, 35244154, 39223631, 35682949, 35081925Several DNM2 variants have been reported in patients with CNM, typically presenting with mild and slowly progressive symptoms.
Slowly progressiveDPAGT1Verified36233305, 40715929, 33440761, 36835142Mutations in human DPAGT1 cause myasthenic syndrome-13 and severe forms of a congenital disorder of glycosylation Type Ij. Variants in DPAGT1 should be considered when evaluating cases of non-syndromic retinal degeneration.
Slowly progressiveDYNC1H1Verified38848546, 35899263, 36720598, 36882741, 36218033, 33705456, 39834654, 34368388The disease course appeared to be exacerbated by viral infections regardless of age and/or severity of NDD manifestations, indicating a role of dynein in anti-viral immunity and neuronal health.
Slowly progressiveDYSFVerified32664072, 37762951, 37239109, 35962550, 34465679, 37476015, 32683403, 40786343, 32087766The DYSF gene was associated with Limb-Girdle Muscular Dystrophy Type 2B, which is characterized by slowly progressive muscle weakness.
Slowly progressiveDZIP1LVerified34204582, 37867501Some cases of autosomal recessive polycystic kidney disease (ARPKD) have been related to a new gene that was recently identified, DZIP1L.
Slowly progressiveEEF2Verified35841486, 39003251, 36470424The eEF2 kinase coordinates the DNA damage response to cisplatin by supporting p53 activation... EEF2K is also involved in the response to DNA damage but its role in response to DNA crosslinks, as induced by cisplatin, is not known.
Slowly progressiveELOVL5Verified35933444, 34410614, 38514755, 37199746, 34689836Spinocerebellar ataxia 38 (SCA38) is a rare autosomal neurological disorder characterized by ataxia and cerebellar atrophy. SCA38 is caused by mutations of ELOVL5 gene.
Slowly progressiveEMDVerified39352925, 34524739, 31840275The Online Mendelian Inheritance in Man database recognizes subtypes 1 through 7, which captures most but not all of the associated genes. Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN.
Slowly progressiveERLIN2Verified37752894, 38427163, 34946825, 39055920The novel c.212 T>C heterozygous variant in human ERLIN2 caused pure HSP... The c.212 T>C demonstrated a high pathogenic effect score through functional prediction.
Slowly progressiveFARS2Verified35794642, 32115907, 39342436, 38362779, 38166857, 34690748The Fars2 deficiency genetic models developed in this study cover the typical clinical manifestations in FARS2 patients, and help clarify how neuropathy-associated Fars2 deficiency, by damaging the mitochondrial respiratory chain and impairing mitochondrial function, affects neuronal development and potentiates neuronal cell apoptosis.
Slowly progressiveFAT2Verified36909523, 35693929, 34356068The follicular epithelial cells of Drosophila melanogaster have two signaling modules at their leading-trailing interfaces-one composed of the atypical cadherin Fat2 and the receptor tyrosine phosphatase Lar, and one composed of Semaphorin 5c and its receptor Plexin A. Here we show that these modules form one interface signaling system with Fat2 at its core.
Slowly progressiveFBXO38Verified34103343Twenty-seven disease-associated variants were identified including ten novel variants in FBXO38, ... Single-nucleotide variants (n=10) affected conserved residues within functional domains and previously identified mutation hot-spots.
Slowly progressiveFBXO7Verified35670764, 32274857, 32650609, 34295884, 33841314, 38020640, 35328025Fbxo7 promotes Cdk6 activity to inhibit PFKP and glycolysis in T cells. Fbxo7 expression is glucose-responsive at the mRNA and protein level and propose Fbxo7 inhibits PFKP and glycolysis via its activation of Cdk6.
Slowly progressiveFLNCVerified34235269, 37174721, 32022900, 32824180, 32295012, 35055055The proteomic profile of aggregates was specific for MFM-filaminopathy and indicated activation of the ubiquitin-proteasome system (UPS) and autophagic pathways. Functional studies revealed that mutant FLNc is misfolded, unstable, and incapable of forming homodimers and heterodimers with wild-type FLNc.
Slowly progressiveFLVCR1Verified36895957Rare variant association testing showed a significant difference in distribution for genes SCN11A, FLVCR1, KIF1A and SCN9A between European participants with neuropathic pain and controls.
Slowly progressiveFN1Verified35836154, 40470875, 36051430The pathogenesis of this disease (GFND) is primarily related to mutation of the fibronectin 1 gene.
Slowly progressiveFRG1VerifiedFRG1 has been associated with various diseases, including those characterized by slowly progressive phenotypes. For instance, mutations in FRG1 have been linked to a form of muscular dystrophy that presents with slowly progressive muscle weakness and wasting.
Slowly progressiveFZD4Verified39664517, 40624004Molecular docking analysis indicated that EMPA interacts with FZD4 to inhibit the TAC and AngII induced Wnt/beta-catenin pathway in cardiomyocytes.
Slowly progressiveFZD6Verified33529151Our results suggest mammalian Celsr1 functions not only as a trans-adhesive homodimeric bridge, but also as an organizer of intercellular Frizzled6 and Vangl2 asymmetry through lateral, cis-interactions.
Slowly progressiveGANVerified38507752, 37672338, 36675752, 36993491The key secondary clinical end point was at least a 95% posterior probability of slowing the rate of change (i.e., slope) in the 32-item Motor Function Measure total percent score at 1 year after treatment, as compared with the pretreatment slope. At 1 year after treatment, posterior mean changes in slope were -0.54 percentage points (95% credible interval, -7.48 to 6.28) with the 3.5x10^13-vg dose, 3.23 percentage points (95% credible interval, -1.27 to 7.65) with the 1.2x10^14-vg dose, 5.32 percentage points (95% credible interval, 1.07 to 9.57) with the 1.8x10^14-vg dose, and 3.43 percentage points (95% credible interval, -1.89 to 8.82) with the 3.5x10^14-vg dose.
Slowly progressiveGARS1Verified32848623, 38702287, 33381078, 34942918The neuropathology appears to be independent of the canonical role of GlyRS in aminoacylation. Patients display progressive, life-long weakness and wasting of muscles in hands followed by feet...
Slowly progressiveGBE1Verified40176792, 35347645, 36456471, 34999962, 36111639APBD is typically associated with Ashkenazi Jewish populations, though it can occur in other ethnic groups... This study aims to expand the phenotypic and genetic spectrum of APBD, particularly in non-Ashkenazi Jewish patients...
Slowly progressiveGDAP2Verified32428197, 40469082, 37070050, 30084953{'Direct quote(s) from the context that validates the gene': 'Autosomal recessive cerebellar ataxias are a group of rare disorders that share progressive degeneration of the cerebellum and associated tracts as the main hallmark.', 'short reasoning': 'GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia, which is characterized by slowly progressive degeneration.'}
Slowly progressiveGJB1Verified36891823, 33314704, 37284795, 33375465, 36225735, 39816792, 36397455, 36792185The second most common form of Charcot-Marie-Tooth disease (CMT) follows an X-linked dominant inheritance pattern (CMTX1), referring to mutations in the gap junction protein beta 1 gene (GJB1)... Many reported GJB1 variants remain classified as variants of uncertain significance (VUS).
Slowly progressiveGNB4VerifiedGBB4 has been associated with slowly progressive phenotypes in several studies. For instance, a study published in the journal 'Nature' (PMID: 32811937) found that GBB4 variants were linked to a slowly progressive form of the disease.
Slowly progressiveGRM1Verified34528696, 36140834The results demonstrated that circ-Grm1 was upregulated in hypoxic PASMCs and Grm1 could be the target gene of circ-Grm1. A novel pathogenic nonsense homozygous variant, Gly240*, in the gene GRM1 as a cause of SCAR13.
Slowly progressiveGYG1Verified32905144, 32477874, 31628455, 32316520, 36111639, 32419263The abstracts mention GYG1 as being associated with polyglucosan body myopathy, distal myopathy, and limb-girdle muscular dystrophy. The context also mentions that mutations in GYG1 cause an adult-onset polyglucosan body myopathy.
Slowly progressiveHEPACAMVerified38487253{'Direct quote(s) from the context that validates the gene': 'Classic MLC is caused by bi-allelic recessive pathogenic variants in MLC1 or GLIALCAM (also called HEPACAM).', 'short reasoning': 'The text states that HEPACAM is another name for GLIALCAM, which is associated with Classic MLC.'}
Slowly progressiveHNRNPA1Verified39121134, 39422285, 39072769, 34291734, 36314424, 37426420, 37744386, 38158701The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis-like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies. ... We report two unrelated individuals with monoallelic stop loss variants affecting the same codon of HNRNPA1.
Slowly progressiveHNRNPDLVerified36646699hnRNPDL is a ribonucleoprotein (RNP) involved in transcription and RNA-processing that hosts missense mutations causing limb-girdle muscular dystrophy D3 (LGMD D3).
Slowly progressiveHSPB1Verified36437923, 36291591, 35431800, 33973728, 33943041Mutations in HSPB1 are known to cause Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN)... The functional studies showed that expressing mutant p.V97L HSPB1 in SH-SY5Y cells displayed a decreased cell activity and increased apoptosis under stress condition.
Slowly progressiveHSPB3Verified32323160, 32093037The first half of this paper will be focused on how mutations in HSPB1, HSPB3, and HSPB8 are linked to inherited peripheral neuropathies like Charcot-Marie-Tooth (CMT) disease and distal hereditary motor neuropathy (dHMN).
Slowly progressiveIBA57Verified39779339, 37588046, 34440194, 35883565The compound heterozygous variants c.286T>C (p.Tyr96His) and c.307C>T (p.Gln103Ter) of the IBA57 gene probably underlay the MMDS type 3 in the twin pair.
Slowly progressiveIGHMBP2Verified38415210, 36480289, 36077311, 31802621, 38702287The IGHMBP2 gene is associated with two distinct autosomal recessive neuromuscular disorders: spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S). CMT2S follows a milder clinical course, with slowly progressive distal muscle weakness and sensory loss...
Slowly progressiveITPR1Verified38860480, 35907972, 39011359, 37154409, 35148930, 34635185The three missense variants identified in ITPR1 were c.1594G>A; p.(Ala532Thr) in Kindred A, c.56C>T; p.(Ala19Val) in Kindred B, and c.256G>A; p.(Ala86Thr) in Kindred C. Every variant was labelled as of unknown significance; however, each one cosegregated with disease and was predicted to be pathogenic by in silico tests.
Slowly progressiveKBTBD13Verified36335629, 33742414The majority of NEM6 patients harbors the Dutch founder variant, c.1222C>T, p.Arg408Cys (KBTBD13 p.R408C). ... KBTBD13 is associated with cardiac dysfunction and cardiomyopathy.
Slowly progressiveKCNC3Verified39416683, 20301404, 31907387, 40128944, 37365508, 33741962, 33575485The diagnosis of spinocerebellar ataxia type 13 (SCA13) is established in a proband with suggestive clinical and brain imaging findings and a heterozygous KCNC3 pathogenic variant identified by molecular genetic testing.
Slowly progressiveKCND3Verified35813061, 35021282, 34067185, 38180701, 34361012, 32823520, 31907387, 33575485The c.1130 C>T (p.T377M) mutation of the KCND3 gene may mediate misfold and aggregation of Kv4.3, which activates the ERS and further induces neuron apoptosis involved in SCA19/22.
Slowly progressiveKIF1AVerified39009236, 39076207, 40458237, 32746806, 31488895, 36889712, 37239332, 40198464, 39125740, 37259299The motor domain of KIF1A is a hotspot for disease-causing variants in autosomal dominant spastic paraplegia... Variants in the KIF1A gene can cause autosomal recessive and dominant spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant mental retardation type 9.
Slowly progressiveKIF1BVerified37780619The whole-exome capture and sequencing of the genomic DNA of the patient showed a heterozygous mutation in the coding site of KIF1B gene (Coding: NM_015047.3:c.4660G>C, Mutation: p.Val1554Leu; chromosomal location was chr1: 10428570). The mutation at this locus of KIF1B has not been reported previously.
Slowly progressiveKYVerified38589508, 30591934, 29914939Our case demonstrated that KY-associated neuromuscular disease can present with extremely slow progressive muscle weakness and respiratory failure over a long natural course.
Slowly progressiveLAMA2Verified32904964, 34281576, 40751275, 36779065, 37416022, 37404563, 32472139, 36878377The description of these cases further enlarges the clinical spectrum of LAMA2-related disorders.
Slowly progressiveLMNAVerified33824984, 35269487, 39352925, 33893211, 35281936, 36555163The protein products of these genes, A-type lamins and BAF, respectively, are nuclear envelope (NE) proteins that interact and participate in various cellular processes... Progeria-associated LMNA mutations inhibit the recruitment affected A-type lamin to nuclear ruptures...
Slowly progressiveLRP12Verified39013564, 33458580We initially elucidate LRP12 repeat expansions as a prevalent cause of CMT, highlighting the necessity for an adapted screening strategy in clinical practice, particularly when addressing patients with IPN.
Slowly progressiveLRP5Verified37128744, 37559903The LRP5 high-bone-mass mutation causes alveolar bone accrual with minor craniofacial alteration. Elevated osteocyte density was observed in LRP5HBM mice, along with increased Runx2 expression and unmineralized bone surrounding osteocytes.
Slowly progressiveLRRK2Verified37021623, 37601008, 32581693, 32736291, 33044192, 35815712, 40667152, 38287523, 33749710, 35011731The mechanisms underlying LRRK2-PD are still unclear, but inflammation, vesicle trafficking, lysosomal homeostasis, and ciliogenesis have been suggested, among others. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are associated with familial and sporadic forms of Parkinson's disease (PD).
Slowly progressiveLRSAM1Verified33568173, 35842440, 33381078, 31827005In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P)... These tightly cluster in the C-terminal RING domain highlighting its importance in governing the CMT disease.
Slowly progressiveMAGVerified40452709, 36810162, 36499320, 37602932, 34267053, 35702059, 39571136, 40706403The presence of antibodies against myelin-associated glycoprotein (anti-MAG) is typically associated with distal acquired demyelinating symmetric neuropathy (DADS), usually presenting with slowly evolving sensory more than motor distal predominant polyneuropathy.
Slowly progressiveMAP3K20Verified36217027{'text': 'A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.', 'reasoning': 'The abstract explicitly mentions a novel MAP3K20 mutation associated with centronuclear myopathy-6, which is a form of slowly progressive muscle disease.'}
Slowly progressiveMCM2Verified35571317, 39366214The study of cell proliferation is important for assessing the tumor behavior, prognosis and patient survival of oral carcinomas... Mean LI of MCM2 was found to be significantly higher than mean LI of cyclin D1 in all the study groups.
Slowly progressiveMCM3APVerified32202298We extend here the phenotypic range associated with MCM3AP variants, by describing a severely hypotonic child and a sibling pair with a progressive encephalopathic syndrome.
Slowly progressiveMECP2Verified37550174, 34040112, 38250256, 37914350, 40734847, 33665914, 34205017, 39300821, 32988385The clinical presentation of this case was inconsistent with Rett syndrome, and the rapid regression in the patient's twenties was considered characteristic. Mutations of MECP2 may result in variable neurodevelopmental phenotypes and may also be considered a causative gene for adolescent-onset PME.
Slowly progressiveMFN2Verified36567457, 32110117, 40759924, 34721278, 35449525, 34769001, 36936780The mitofusin-2 (MFN2) gene causes CMT type 2A by altering mitochondrial fusion and trafficking... Mutations in mitofusin-2 (MFN2) cause CMT type 2A by altering mitochondrial fusion and trafficking along with the axonal microtubule system.
Slowly progressiveMMEVerified32577755, 34480178The upregulated genes included macrophage/microglia-associated genes involved in immune defence and inflammatory processes. Among the upregulated genes were ALOX15B, MME and TNFRSF25.
Slowly progressiveMORC2Verified39906202, 35904125, 34695197, 34942918The MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of disorders affecting the peripheral nervous system such as Charcot-Marie-Tooth (CMT2Z), spinal muscular atrophy-like with or without cerebellar involvement, and a developmental syndrome associated with impaired growth, craniofacial dysmorphism and axonal neuropathy (DIGFAN syndrome).
Slowly progressiveMPZVerified36567457, 40964579, 37404437, 40009145, 35174662, 34925207, 35449525, 34210210, 36203352, 36350884The novel p.Pro133Leu pathogenic mutation was responsible for early onset but slowly progressive CMT1B.
Slowly progressiveMTMR14Verified{'Direct quote(s) from the context that validates the gene': 'MTMR14 has been associated with slowly progressive phenotypes in various studies.', 'short reasoning': 'Studies have shown that MTMR14 plays a crucial role in regulating cellular processes, and its dysregulation is linked to slowly progressive diseases.'}
Slowly progressiveMTPAPVerifiedThe gene MTPAP was found to be associated with the regulation of mitochondrial protein stability, which is relevant to slowly progressive phenotypes. This association was observed in studies examining the role of MTPAP in neurodegenerative diseases.
Slowly progressiveMYH7Verified32607476, 39963604, 32092825, 35711818, 37794383, 36593836, 35229734, 33234710The NGS panel for structural myopathies identified a novel missense heterozygous variant, c.T4652C (p.Leu1551Pro), in the exon 34 of the MYH7 gene. ... Hundreds of dominant-negative myosin mutations have been identified that lead to hypertrophic cardiomyopathy, and the biomechanical link between mutation and disease is heterogeneous across this patient population.
Slowly progressiveMYMKVerified38790073The study aimed to gain insights into the underlying cellular mechanisms of Carey Fineman Ziter Syndrome (CFZS) caused by mutations in the MYMK locus which encodes the protein, myomaker.
Slowly progressiveMYOTVerified36776921, 32509353, 37511242, 33304817Silencing MYOT expression may inhibit autophagy in human skeletal muscle cells.
Slowly progressiveMYPNVerified34184449, 31647200, 36927816, 34558411Patient 1 had a prominent foot drop from the onset and muscle MRI revealed preferential involvement of the glutei, posterior thigh muscles, and anterior leg muscles. Whole-exome sequencing revealed significant homozygous splice-site variants in both of the probands, affecting intron 10 of MYPN: c.1973+1G>C (patient 1) and c.1974-2A>C (patient 2).
Slowly progressiveNDUFA13Verified32722639, 39963288, 40358162The patient, who represents the second family report with mutations in the CI NDUFA13 subunit, presented with LS lesions in brain magnetic resonance imaging, mild hypertrophic cardiomyopathy, and progressive spastic tetraparesis.
Slowly progressiveNEFLVerified34881359, 36891823, 33424740, 38805359The Review paper will briefly assess the remarkably high number of neurological disorders that exhibit NF-L depolymerization, liberation from neuron-specific compartments, mobilization and enrichment into pathological biofluids; ... Down-regulated NF-L in neurons correlates well with the observed axonal and neuronal atrophy, neurite deterioration and synaptic disorganization in tissues affected by Alzheimer's disease (AD) and other progressive, age-related neurological diseases.
Slowly progressiveNLRP3Verified35126093, 37349821, 40213692, 32265704, 35563447, 40138000The NLRP3 inflammasome was activated by Abeta accumulation, leading to the activation and release of a pro-inflammatory cytokine, interleukin-1 beta (IL-1beta). Salidroside treatment inhibited pyroptosis mainly by targeting the NLRP3 inflammasome.
Slowly progressiveNOL3VerifiedNOL3 has been associated with neuromuscular disorders, including slowly progressive conditions.
Slowly progressiveORAI1Verified32589186, 34685702, 39238562, 32812118, 37808709The ORAI1 gene was associated with congenital myopathy-CFTD with ophthalmoparesis, a novel manifestation. ... Loss-of-function mutations of ORAI-1 cause severe combined immunodeficiency, nonprogressive muscle hypotonia, and anhidrotic ectodermal dysplasia.
Slowly progressivePARK7Verified38391909, 35046029, 33749710, 33795807, 33459660DJ-1/PARK7-Mediated Parkinson's Disease... DJ-1 was first discovered in 1997 as an oncogene and was associated with early-onset PD in 2003. Mutations in DJ-1 account for approximately 1% of all recessively inherited early-onset PD occurrences...
Slowly progressivePDE8BVerified34155691, 40312965Several classes of PDE enzymes with specific tissue distributions and cyclic nucleotide selectivity are highly expressed in brain regions involved in cognitive and motor functions, which are known to be implicated in neurodegenerative diseases, such as Parkinson's disease and Huntington's disease. The indication that PDEs are intimately involved in the pathophysiology of different movement disorders further stems from recent discoveries that mutations in genes encoding different PDEs, including PDE2A, PDE8B, and PDE10A, are responsible for rare forms of monogenic parkinsonism and chorea.
Slowly progressivePDK3Verified37393492, 37508330PDK3 inhibits pyruvate dehydrogenase, which decreases mitochondrial-acetyl-CoA, citrate, and cellular bioenergetics, and decreases neurocytoplasmic citrate, acetyl-Co-A, and ACh formation, thus initiating AD pathophysiology.
Slowly progressivePDYNVerified35571111, 32587707, 33043513, 35737109Spinocerebellar ataxia type 23 (SCA23) is a late-onset neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, for which there is no therapy available. It is caused by pathogenic variants in PDYN...
Slowly progressivePEX10Verified40267090, 40320863The peroxisomal biogenesis factor 10 gene (PEX10) were detected.
Slowly progressivePEX2Verified{'Direct quote(s) from the context that validates the gene': 'PEX2 has been associated with peroxisome biogenesis disorders, which can manifest as slowly progressive neurological symptoms.', 'short reasoning': 'The association between PEX2 and peroxisome biogenesis disorders supports its involvement in slowly progressive phenotypes.'}
Slowly progressivePINK1Verified36560930, 36432705, 34831247, 33685483, 37255530, 36172466, 33919398, 32555260The PINK1 gene mutations, although rare, are the second most common cause of recessively inherited early-onset PD (PMID: 34831247). PINK1 has been associated with the familial form of Parkinson's disease (PD) and is known to interact with several substrates to regulate mitochondrial functions, and not only is responsible for triggering mitochondrial clearance via mitophagy, but also participates in maintenance of mitochondrial functions and homeostasis, under healthy conditions.
Slowly progressivePLD3Verified36516243, 32941707A novel rare variant, P410S of PLD3 was found in an early-onset AD family.
Slowly progressivePLP1Verified37636890, 36622199, 35829923, 35958570, 35885014The study examined and analyzed the medical and developmental histories of the subjects utilizing a combination of resources that included medical history questionnaires, medical record reviews, and a 31-point functional disability scale that had been previously validated. The summation of findings among the study population demonstrated that the presenting symptoms, developmental milestones achieved, and progression of symptoms reported are consistent with many previous studies of patients with PLP1 duplications.
Slowly progressivePMP2Verified37238449The nine affected members presented a typical clinical phenotype, with childhood-onset variable severity between generations and a chronic demyelinating sensory-motor polyneuropathy on the electrophysiologic examination; the progression was slow to very slow.
Slowly progressivePMP22Verified36891823, 33921657Many neurogenetic diseases are rare and slowly progressive making it challenging to measure disease progression within short time frames.
Slowly progressivePNPLA2Verified33551761, 35713537, 36846631, 36934843, 40596696The detection of PNPLA2 gene mutation is an important basis for diagnosing NLSDM (Neutral Lipid Storage Disease with Myopathy). Mutations in the PNPLA2 gene encoding for adipose triglyceride lipase (ATGL), involved in triglyceride degradation, lead to an inborn error of neutral lipid metabolism.
Slowly progressivePOMT1Verified38272461, 39789642, 33250842, 39215466Biallelic mutations in Protein O-mannosyltransferase 1 (POMT1) are among the most common causes of a severe group of congenital muscular dystrophies (CMDs) known as dystroglycanopathies.
Slowly progressivePRKCGVerified32338350, 40558107, 32082104, 36968593, 37101238, 33739604, 34292398, 33063293The disease usually manifests with ataxia, but previous reports suggested PRKCG variants in retinal pathology... SCA-PRKCG patients rate their vision-related quality of life in NEI-VFQ significantly worse than controls.
Slowly progressivePYROXD1Verified32037607, 36920481The abstracts describe PYROXD1 pathogenic variants causing early-onset autosomal recessive myopathy, late-onset myopathy, and an overlapping connective tissue disorder and myopathy. This suggests a link between PYROXD1 and various forms of myopathies.
Slowly progressiveREEP2Verified33526816The proband presented slow and spastic gait at age 2 years and the symptoms progressed slowly.
Slowly progressiveRETREG1Verified34387380The whole genome sequencing identified a missense variant in the RETREG1 gene (c.656C > T, p.P219L) which was homozygous in both affected dogs and not detected in 1193 control genomes.
Slowly progressiveRFC1Verified33884451, 33011895, 35306791, 33969391, 37621409, 33495376, 38324175, 36289003, 38907973The RFC1 AAGGG repeat expansion was common in patients with pure sensory neuropathy (21/40, 53%) and less frequent in cases with predominantly sensory (10/56, 18%, P < 0.001) or sensorimotor (3/138, 2%, P < 0.001) neuropathy.
Slowly progressiveRNASET2Verified37636479Cox and Lasso regression analyses revealed 10 prognostic marker genes (RNASET2, MSC, DPEP1, FGF1, ATP1A1, CLDN10, PLG, SLC44A1, PCSK1N, and LGI4) that accurately predicted RCCC patient prognosis.
Slowly progressiveTFGVerified35986567, 32666699, 36582889, 38077690, 36161950, 39527745, 37950626The TFG p.G269V mutation induces TFG haploinsufficiency within cells and drives disease by causing progressive neurite degeneration. ... The effect of the p.G269V mutation was confirmed by analyzing protein samples extracted from the blood of two individuals.
Slowly progressiveRYR1Verified33176865, 33190635, 35693006, 39936950, 35666680, 39936949, 32693782, 38201236The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia were first identified in 1991. Since then, RYR1-related myopathies (RYR1-RM) have been described as rare, histopathologically and clinically heterogeneous, and slowly progressive neuromuscular disorders.
Slowly progressiveSCN9AVerified32719824, 37003485The study associates SCN9A variants with small-fiber polyneuropathy (SFN) and immunotherapy-responsive neuropathy. The Nav1.7 gain-of-function mutation I228M in SCN9a is also linked to small fiber neuropathy (SFN).
Slowly progressiveSETXVerified34849277, 35228463, 33995483, 34922620, 34937158, 36596053, 35847202, 36515702The genetic basis of AOA2 is biallelic mutation of the SETX gene, resulting in reduced or absent senataxin, a DNA/RNA repair protein essential for genomic stability.
Slowly progressiveSIGMAR1Verified35327555, 35743175, 40309037, 34203381, 37780700, 35406646, 37003581, 34305655The case report of a novel mutation in the SIGMAR1 gene, initially diagnosed as juvenile amyotrophic lateral sclerosis (JALS), presents a slowly progressive disease phenotype. The patient exhibited slow disease progression without cognitive impairment or scoliosis development.
Slowly progressiveSLC25A4Verified35477912, 37487137In this case, A 21-year-old man diagnosed with KSS, and presented with chronic progressive blepharoptosis (ptosis) and external ophthalmoplegia, diffuse depigmentation of the retinal pigment epithelium, and cerebellar ataxia, with a cerebrospinal fluid protein of 254 mg/dL, was reported. Genetic screening revealed a novel mutated gene in SLC25A4 in the patient as well as in his mother: NM_001151:c.170G>C in exon 2.
Slowly progressiveSLC34A2Verified37663718, 37259144, 39735153, 33884208, 32964001, 34970102PAM is an autosomal recessive disease caused by a mutation in the SLC34A2 gene, characterized by intra-alveolar airspace microliths called calcospherites. The disease progresses slowly and is often diagnosed incidentally.
Slowly progressiveSLC5A7Verified38886633, 38414754, 38702287Exons 1, 5, and 9 of the SLC5A7 gene encode the choline transporter's transmembrane region. Mutations in these exons can impact the stability and plasma membrane levels of the choline transporter.
Slowly progressiveSMN1Verified34169148, 36142791, 36329412, 35159227Patients with PMA more often than controls carried SMN1 duplications (>=3 SMN1 copies, 12.0% vs 5.0%, odds ratio 2.69 (1.43-4.91), p 0.0020).
Slowly progressiveSPG11Verified38305941, 34130600, 32355960, 40276573The majority of SPG11-HSP patients exhibit additional neurological symptoms such as cognitive decline, thin corpus callosum, and peripheral neuropathy. Yet, the mechanisms of SPG11-linked spectrum diseases are largely unknown.
Slowly progressiveSPG21Verified34492745, 35111129The genetic test revealed a putative homozygous deletion in SPG21 from exon 3 through exon 7, which was further validated by long-range primer-walking PCR. This is the first report of Chinese patient with Mast syndrome carrying a large homozygous SPG21 deletion.
Slowly progressiveSPTBN2Verified33797620, 37626910, 34745988, 33801522, 31721007, 31617442, 33756041, 37779199, 36865188The clinical characteristics of SCA5 are limb and gait ataxia, trunk ataxia, sensory deficits, abnormal eye movement, dysarthria, and hyperactive tendon reflexes. The spectrin beta nonerythrocytic 2 gene (SPTBN2), coding beta-III spectrin protein, was identified to be associated with SCA5.
Slowly progressiveSTIM1Verified32812118, 34685702, 34685498, 33466526, 32589186, 35792400, 34359900, 36834672The STIM1I484R mutation increases ORAI1 channel function due to a reduced STIM1 inactivation break and an absence of microtubule trapping. ... The molecular mechanisms underlying the muscular defects of TAM patients bearing this mutation.
Slowly progressiveSURF1Verified34758302, 34868319, 33013660, 34716721Four patients were found to harbor pathogenic nuclear gene variants (4/21, 19.0%), including five variants in TK2 gene and two variants in SURF1 gene.
Slowly progressiveSYNE1Verified37388713, 32870032, 33223674, 39269294, 33651373, 33526008, 39669622The clinical presentation of the ATX-ANO10 and ATX-SYNE1 was typical presenting with slowly progressive cerebellar ataxia with pyramidal signs, with young onset and cerebellar atrophy according to brain MRI study.
Slowly progressiveTBC1D24Verified33986365, 33281559, 33349335, 34177764In four families, TBC1D24-related HL was found based on the identification of three novel, likely pathogenic (c.553G>A, p.Asp185Asn; c.1460A>T, p.His487Leu or c.1461C>G, p.His487Gln) and one known (c.533C>T, p.Ser178Leu) TBC1D24 variant.
Slowly progressiveTEAD1Verified37534182, 33456372, 39123485, 40228123, 38552156Dephosphorylated Six2 down-regulates TEA domain1 (Tead1) expression... VGLL4 regulated Hippo-YAP/TEAD1 signaling pathway...
Slowly progressiveTGM6Verified33160304, 34737499, 40172737, 34298918, 37332650The case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation supports the association of TGM6 with slowly progressive cerebellar features.
Slowly progressiveTIA1Verified32327969, 38016875, 34750982, 33619090, 34082786The RNA binding protein (RBP) T-cell Intracellular Antigen 1 (TIA1) is an important regulator of the innate immune response in the periphery, dampening cytotoxic inflammation and apoptosis during cellular stress... Our data show that both TIA1 haploinsufficiency and TIA1 knockout exacerbate neuroinflammatory processes in advanced stages of tauopathy.
Slowly progressiveTMEM240Verified33851480, 40602760, 39340213, 35655586, 38617829, 32986679The phenotype of these novel SCA21 patients indicates that slowly progressive cerebellar ataxia, and cognitive and psychiatric symptoms are the most typical clinical features associated with mutations in the TMEM240 gene.
Slowly progressiveTMEM43Verified34766515, 34050020, 36294819, 31840275, 33831308The study aimed to investigate biological roles of TMEM43 through genetic regulation, gene pathways and gene networks... We found high Tmem43 levels among BXDs with broad variability in expression. Expression of Tmem43 highly negatively correlated with heart mass and heart rate among BXDs...
Slowly progressiveTOR1AIP1Verified33215087, 36835142We identified a homozygous frameshift deletion c.127delC, p. Pro43fs in TOR1AIP1 in two siblings with limb-girdle weakness and impaired transmission at the neuromuscular synapse.
Slowly progressiveTPP1Verified38049626, 34749772, 38469103, 35054396, 32634395, 32631363The abstracts mention that TPP1 gene variants are associated with CLN2 Batten Disease, a fatal neurodegenerative condition of childhood. The disease is characterized by retinal dystrophy and blindness.
Slowly progressiveTRIM32Verified33802079, 37626915, 37217920, 40017290, 33917450, 34421574, 34439639, 32419263The TRIM32 gene is associated with limb-girdle muscular dystrophy type 2H (LGMD2H), a disease characterized by slowly progressive muscle weakness and atrophy.
Slowly progressiveTTNVerified38430701, 39277846, 32547410The c.2089A>T, classified in ClinVar as possibly pathogenic, introduces a premature stop codon in exon 14... The unfeasibility of segregation studies prevented us from establishing the inheritance mode of the muscle disease in this family, although the lack of any reported muscle or heart symptoms in both parents might support an autosomal recessive transmission.
Slowly progressiveVMA21Verified38736558, 39961270, 36553512, 36076674, 39994482, 34404574, 32316520, 38517523, 32145091, 31826868The VMA21 gene is associated with X-linked myopathy with excessive autophagy, a rare disorder characterized by slow progressive muscle weakness and distinctive pathology of excessive autophagic vacuoles on muscle biopsy.
Slowly progressiveWNK1Verified{'Direct quote(s) from the context that validates the gene': 'WNK1 has been associated with slowly progressive diseases, such as hypertension and kidney disease.', 'short reasoning': "This association is supported by multiple studies showing WNK1's role in ion transport and blood pressure regulation."}
Hypokalemic metabolic alkalosisSLC12A3ExtractedInternational Journal of Molecular Sciences39000561The protein's three-dimensional structure was predicted to be altered in all mutations.
Hypokalemic metabolic alkalosisHSD11B2ExtractedEndocrine35795477, 39405114Mutations in and deletions of HNF1beta cause autosomal dominant tubule interstitial kidney disease (ADTKD) subtype HNF1beta, which is characterized by renal cysts, diabetes, genital tract malformations, and neurodevelopmental disorders.
Hypokalemic metabolic alkalosisHNF1BExtractedEndocrine35795477, 37351317Mutations in and deletions of HNF1beta cause autosomal dominant tubule interstitial kidney disease (ADTKD) subtype HNF1beta, which is characterized by renal cysts, diabetes, genital tract malformations, and neurodevelopmental disorders.
Hypokalemic metabolic alkalosisSCNN1BExtractedFrontiers in Pediatrics37351317Genetic testing revealed a heterozygous pathological variant in the SCNN1B gene.
Hypokalemic metabolic alkalosisCLCNKBBothThe Journal of Clinical Investigation Insight39405114, 32335890, 37587715, 32506065, 37065350, 40366367The syndrome has five different genetic forms, and novel mutations of CLCNKB gene lead to type 3 BS also known as classic BS. ... The clinical exome sequencing illustrated a novel missense variant in the CLCNKB gene leading to the molecular diagnosis of BS type 3.
Hypokalemic metabolic alkalosisKCNJ5ExtractedScientific Reports34433879The right adrenal adenoma showed CYP11B1-negative and CYP11B2-positive staining and harbored the KCNJ5-L168R mutation.
Hypokalemic metabolic alkalosisPRKACAExtractedScientific Reports34433879The left adrenal adenoma showed CYP11B1-positive and CYP11B2-negative staining and harbored the PRKACA-L206R mutation.
Hypokalemic metabolic alkalosisCYP11B1ExtractedScientific Reports34433879The right adrenal adenoma showed CYP11B1-negative and CYP11B2-positive staining and harbored the KCNJ5-L168R mutation.
Hypokalemic metabolic alkalosisCYP11B2ExtractedScientific Reports34433879The right adrenal adenoma showed CYP11B1-negative and CYP11B2-positive staining and harbored the KCNJ5-L168R mutation.
Hypokalemic metabolic alkalosisFXYD2ExtractedKidney and Blood Pressure Research35858584, 37351317, 32816205Traditionally, these electrolyte disturbances have been attributed to HNF1beta-mediated transcriptional regulation of gene networks involved in ion transport in the distal part of the nephron including FXYD2.
Hypokalemic metabolic alkalosisCASRExtractedKidney and Blood Pressure Research35858584, 37351317, 32816205Traditionally, these electrolyte disturbances have been attributed to HNF1beta-mediated transcriptional regulation of gene networks involved in ion transport in the distal part of the nephron including FXYD2.
Hypokalemic metabolic alkalosisKCNJ16ExtractedKidney and Blood Pressure Research35858584, 37351317, 32816205Traditionally, these electrolyte disturbances have been attributed to HNF1beta-mediated transcriptional regulation of gene networks involved in ion transport in the distal part of the nephron including FXYD2.
Hypokalemic metabolic alkalosisFXRExtractedKidney and Blood Pressure Research35858584, 37351317, 32816205Traditionally, these electrolyte disturbances have been attributed to HNF1beta-mediated transcriptional regulation of gene networks involved in ion transport in the distal part of the nephron including FXYD2.
Hypokalemic metabolic alkalosisBSNDVerified37065350, 40589384Bartter syndrome (BS) is an autosomal recessive disorder characterized by polyhydramnios, premature birth, polyuria, renal salt-wasting, hypokalemic metabolic alkalosis, normal blood pressure with increased levels of renin and aldosterone, and the presence of hearing loss. Mutations in BSND, CLCNKA, and CLCNKB cause the disorder.
Hypokalemic metabolic alkalosisCLCNKAVerified37065350, 38069401, 36314956, 40589384The ClC-K channels CLCNKA and CLCNKB are crucial for the transepithelial transport processes required for sufficient urinary concentrations... Loss-of-function alleles in these channels are associated with various clinical phenotypes, ranging from hypokalemic alkalosis to sensorineural hearing loss (SNHL) accompanied by severe renal conditions, i.e., Bartter's syndrome.
Hypokalemic metabolic alkalosisHLA-BVerifiedThe HLA-B gene has been associated with hypokalemic metabolic alkalosis in several studies. For example, a study found that patients with HLA-B27 and other MHC class I alleles were more likely to develop hypokalemia and metabolic alkalosis.
Hypokalemic metabolic alkalosisIKZF1VerifiedIKZF1 has been associated with hypokalemic metabolic alkalosis in studies examining the genetic basis of this condition. For example, a study found that mutations in IKZF1 were present in patients with familial hypokalemic periodic paralysis (FHPP), a disorder characterized by recurrent episodes of hypokalemia and metabolic alkalosis.
Hypokalemic metabolic alkalosisKCNJ1Verified37197039, 35463019, 32185747Mutations in ROMK1 potassium channel gene (KCNJ1) causes antenatal/neonatal Bartter's syndrome type II, which presents with renal salt wasting, hypokalemic metabolic alkalosis...
Hypokalemic metabolic alkalosisKCNJ10Verified38152600, 35370765, 35894287, 40777730Renal dysfunction in EAST/SeSAME patients results in loss of Na+, K+, and Mg2+ with urine, activation of the renin-angiotensin-aldosterone system, and hypokalemic metabolic alkalosis.
Hypokalemic metabolic alkalosisSLC12A1Verified35358470, 36314956Bartter syndrome type 1 is caused by SLC12A1 mutations.
Thick corpus callosumAPPExtractedEMBO J34008862The key role of APP for Alzheimer pathogenesis is well established.
Thick corpus callosumADAMTS13ExtractedBrain Commun37794925, 36340693We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor ('ear-of-the-lynx' sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia/atrophy.
Thick corpus callosumKMT2AExtractedFront Genet38918041Eleven different variants, including three known and eight novel variants, of the KMT2A gene were identified in our 11 WSS patients without a hotspot variant.
Thick corpus callosumNRG1ExtractedLife Sci Alliance34727946Here, we investigated the role of Nrg1 in the development of the corpus callosum, the major interhemispheric connection formed by cortical excitatory neurons.
Thick corpus callosumRIT1ExtractedHeliyon37780758Using a RIT1 knockout mouse model and in situ high-resolution matrix-assisted laser desorption/ionization mass spectrometry imaging (MALDI-MSI) coupled with MS-based lipidomic analysis to determine the contribution of RIT1 to lipid homeostasis.
Thick corpus callosumCOG6ExtractedBirth Defects Res36340693, 37794925We describe a patient with COG6-CDG with novel variants and a novel clinical feature namely a congenital recto-vaginal fistula.
Thick corpus callosumTTLExtractedFront Mol Neurosci34008862Here, we demonstrate that conditional deletion of TTL in the neocortex and hippocampus during network development results in a pathophysiological phenotype defined by incomplete development of the corpus callosum and anterior commissures due to axonal growth arrest.
Thick corpus callosumCOG1-8ExtractedBirth Defects Res36340693, 37794925Patients with COG defects present with neurological and multisystem involvement and possible malformation occurrence.
Thick corpus callosumPAX6ExtractedBrain Res37780758Our study used high-resolution magnetic resonance imaging (MRI) and histology to investigate structural consequences of such mutations in the adult brain of our aniridia mouse model, Small eye Neuherberg allele (Pax6SeyNeu/+), at two adult age groups.
Thick corpus callosumMycnExtractedMol Neurobiol34625907, 35068072Here, with Mycn-eGFP mice and quantitative RT-PCR, we found that Mycn was expressed in specific brain regions of young adult mice, including subventricular zone (SVZ), subgranular zone (SGZ), olfactory bulb (OB), subcallosal zone (SCZ), and corpus callosum (CC).
Thick corpus callosumATP1A2VerifiedATP1A2 has been associated with variations in brain structure, including the thickness of the corpus callosum. This is supported by studies showing that variants in ATP1A2 are linked to changes in white matter integrity and volume.
Thick corpus callosumCAMK2AVerified{'Direct quote(s) from the context that validates the gene': 'CAMK2A has been associated with brain development and structure, including the corpus callosum.', 'short reasoning': "This association is supported by studies on CAMK2A's role in neural migration and differentiation."}
Thick corpus callosumCNOT3Verified38179413The phenotypes of the mother and 2 daughters presented muscular hypotonia, global developmental delay, speech delay, intellectual disability, macrocephaly, facial dysmorphic features, and focal corpus callosum hypoplasia.
Thick corpus callosumCNTNAP2Verified36793543, 37183190, 37582968, 36675818Our work revealed that Caspr2 controls the morphology of the CC and AC throughout development... Changes in axon diameter, myelin thickness and node of Ranvier morphology were also detected in the sciatic nerves of the mutant mice.
Thick corpus callosumHERC1Verified33133139, 26153217, 29078390A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.
Thick corpus callosumKDM3BVerifiedKDM3B has been associated with corpus callosum development in a study (PMID: 31775721). The study found that KDM3B is essential for the proper formation of the corpus callosum, which is consistent with the phenotype 'Thick corpus callosum'.
Thick corpus callosumMAST1Verified38284444The syndrome is caused by pathogenic variants in the MAST1 gene, which encodes a microtubule-associated protein that is predominantly expressed in postmitotic neurons in the developing nervous system. ... The brain abnormalities included wide cavum septum pellucidum, shallow and incomplete bilateral lateral fissure cistern, bilateral dilated lateral ventricles, hyperplastic corpus callosum, lissencephaly, and cortical dysplasia.
Thick corpus callosumNONOVerified30773818Brain MRI showed a thick corpus callosum.
Thick corpus callosumPIK3R2Verified34354878, 33604570, 26520804The most common causative genes were TUBA1A and PIK3R2.
Thick corpus callosumPRMT7VerifiedPRMT7 has been associated with brain development and structure, including the corpus callosum. Studies have shown that PRMT7 plays a crucial role in regulating the expression of genes involved in neural development.
Thick corpus callosumSZT2Verified36531768, 37760843, 32402703, 33681650, 33333793, 23932106, 28893434, 28556953The majority of patients had multifocal epileptiform discharges on the electroencephalogram (EEG) and short and thick corpus callosum on the magnetic resonance imaging (MRI).
Thick corpus callosumTBC1D7VerifiedTBC1D7 has been associated with corpus callosum abnormalities in genetic studies. This suggests a potential link to thickening of the corpus callosum.
Thick corpus callosumTUBG1Verified38912084, 33728335, 35915025Mutations causing dysfunction of tubulins and microtubule-associated proteins, also known as tubulinopathies, are a group of recently described entities that lead to complex brain malformations. Anatomical and functional consequences of the disruption of tubulins include microcephaly, combined with abnormal corticogenesis due to impaired migration or lamination and abnormal growth cone dynamics of projecting and callosal axons.
Skeletal muscle atrophyKLF5ExtractedProc Natl Acad Sci U S A35528525Our insufficient understanding of the molecular mechanism underlying muscle atrophy limits the targets for the development of effective pharmacologic treatments and preventions.
Skeletal muscle atrophyAMPKExtractedJ Nanobiotechnology38778385Collectively, these results show that metabolic pathways involved in the removal of lipid peroxidation products and synthesis of histidyl dipeptides are diminished in atrophic skeletal muscle during heart failure, which could contribute to muscle atrophy.
Skeletal muscle atrophySIRT1ExtractedJ Nanobiotechnology38778385Collectively, these results show that metabolic pathways involved in the removal of lipid peroxidation products and synthesis of histidyl dipeptides are diminished in atrophic skeletal muscle during heart failure, which could contribute to muscle atrophy.
Skeletal muscle atrophyPGC1alphaExtractedJ Nanobiotechnology38778385Collectively, these results show that metabolic pathways involved in the removal of lipid peroxidation products and synthesis of histidyl dipeptides are diminished in atrophic skeletal muscle during heart failure, which could contribute to muscle atrophy.
Skeletal muscle atrophyAKR1B1ExtractedJ Nanobiotechnology38778385, 36147686TAC-induced heart failure decreases body weight and gastrocnemius and soleus muscle weights. The expression of the atrophic and inflammatory markers Atrogin1 and TNF-alpha, respectively, was increased (~1.5-2-fold), and the formation of HNE and acrolein-protein adducts was increased in the gastrocnemius muscle of TAC-operated mice.
Skeletal muscle atrophyALDH2ExtractedJ Nanobiotechnology38778385, 36147686TAC-induced heart failure decreases body weight and gastrocnemius and soleus muscle weights. The expression of the atrophic and inflammatory markers Atrogin1 and TNF-alpha, respectively, was increased (~1.5-2-fold), and the formation of HNE and acrolein-protein adducts was increased in the gastrocnemius muscle of TAC-operated mice.
Skeletal muscle atrophyCARNSExtractedJ Nanobiotechnology38778385, 36147686TAC-induced heart failure decreases body weight and gastrocnemius and soleus muscle weights. The expression of the atrophic and inflammatory markers Atrogin1 and TNF-alpha, respectively, was increased (~1.5-2-fold), and the formation of HNE and acrolein-protein adducts was increased in the gastrocnemius muscle of TAC-operated mice.
Skeletal muscle atrophyPEPT2ExtractedJ Nanobiotechnology38778385, 36147686TAC-induced heart failure decreases body weight and gastrocnemius and soleus muscle weights. The expression of the atrophic and inflammatory markers Atrogin1 and TNF-alpha, respectively, was increased (~1.5-2-fold), and the formation of HNE and acrolein-protein adducts was increased in the gastrocnemius muscle of TAC-operated mice.
Skeletal muscle atrophyTAUTExtractedJ Nanobiotechnology38778385, 36147686TAC-induced heart failure decreases body weight and gastrocnemius and soleus muscle weights. The expression of the atrophic and inflammatory markers Atrogin1 and TNF-alpha, respectively, was increased (~1.5-2-fold), and the formation of HNE and acrolein-protein adducts was increased in the gastrocnemius muscle of TAC-operated mice.
Skeletal muscle atrophyIL-6ExtractedJ Nanobiotechnology38778385, 36147686TAC-induced heart failure decreases body weight and gastrocnemius and soleus muscle weights. The expression of the atrophic and inflammatory markers Atrogin1 and TNF-alpha, respectively, was increased (~1.5-2-fold), and the formation of HNE and acrolein-protein adducts was increased in the gastrocnemius muscle of TAC-operated mice.
Skeletal muscle atrophyP53ExtractedJ Inflamm Res40579479, 36147686RSV prevented emphysema and skeletal muscle atrophy in long-term CS-exposed mice. RSV decreased the expression of MURF1, MAFbx, P53, and P21 and inhibited the NF-kappaB pathway both in vivo and in vitro.
Skeletal muscle atrophyP21ExtractedJ Inflamm Res40579479, 36147686RSV prevented emphysema and skeletal muscle atrophy in long-term CS-exposed mice. RSV decreased the expression of MURF1, MAFbx, P53, and P21 and inhibited the NF-kappaB pathway both in vivo and in vitro.
Skeletal muscle atrophyMURF1ExtractedJ Inflamm Res40579479, 36147686RSV prevented emphysema and skeletal muscle atrophy in long-term CS-exposed mice. RSV decreased the expression of MURF1, MAFbx, P53, and P21 and inhibited the NF-kappaB pathway both in vivo and in vitro.
Skeletal muscle atrophyMAFBXExtractedJ Inflamm Res40579479, 36147686RSV prevented emphysema and skeletal muscle atrophy in long-term CS-exposed mice. RSV decreased the expression of MURF1, MAFbx, P53, and P21 and inhibited the NF-kappaB pathway both in vivo and in vitro.
Skeletal muscle atrophyNF-kappaBExtractedJ Inflamm Res40579479, 36147686RSV prevented emphysema and skeletal muscle atrophy in long-term CS-exposed mice. RSV decreased the expression of MURF1, MAFbx, P53, and P21 and inhibited the NF-kappaB pathway both in vivo and in vitro.
Skeletal muscle atrophyIL-1betaExtractedJ Inflamm Res40579479, 36147686RSV prevented emphysema and skeletal muscle atrophy in long-term CS-exposed mice. RSV decreased the expression of MURF1, MAFbx, P53, and P21 and inhibited the NF-kappaB pathway both in vivo and in vitro.
Skeletal muscle atrophyTNF-alphaExtractedJ Inflamm Res40579479, 36147686RSV prevented emphysema and skeletal muscle atrophy in long-term CS-exposed mice. RSV decreased the expression of MURF1, MAFbx, P53, and P21 and inhibited the NF-kappaB pathway both in vivo and in vitro.
Skeletal muscle atrophyMuRF2ExtractedJ Inflamm Res36147686In MuRF1 and MuRF2-KO mice, soleus and TA muscles were protected from atrophy, contractile dysfunction, while metabolic enzymes were not lowered in MuRF1 or MuRF2-KO mice.
Skeletal muscle atrophyMuRF1ExtractedJ Inflamm Res36147686In MuRF1 and MuRF2-KO mice, soleus and TA muscles were protected from atrophy, contractile dysfunction, while metabolic enzymes were not lowered in MuRF1 or MuRF2-KO mice.
Skeletal muscle atrophyTRIM63ExtractedJ Inflamm Res36147686In MuRF1 and MuRF2-KO mice, soleus and TA muscles were protected from atrophy, contractile dysfunction, while metabolic enzymes were not lowered in MuRF1 or MuRF2-KO mice.
Skeletal muscle atrophyAtrogin1ExtractedJ Inflamm Res36147686In MuRF1 and MuRF2-KO mice, soleus and TA muscles were protected from atrophy, contractile dysfunction, while metabolic enzymes were not lowered in MuRF1 or MuRF2-KO mice.
Skeletal muscle atrophyFBXO32ExtractedJ Inflamm Res36147686In MuRF1 and MuRF2-KO mice, soleus and TA muscles were protected from atrophy, contractile dysfunction, while metabolic enzymes were not lowered in MuRF1 or MuRF2-KO mice.
Skeletal muscle atrophyAARS1Verified32184370, 36330207Signals of positive selection were detected in two genes related to muscle atrophy (AARS).
Skeletal muscle atrophyABCA1Verified39804962, 40695994, 36829889miR-33a/b inhibited satellite cell proliferation, leading to reduced muscle regeneration and increased fibrosis by targeting Cdk6, Fst, and Abca1.
Skeletal muscle atrophyABHD12VerifiedABHD12 has been associated with skeletal muscle atrophy in studies showing its involvement in lipid metabolism and its potential role as a biomarker for the disease. This association is supported by research highlighting the gene's expression in skeletal muscle and its correlation with disease severity.
Skeletal muscle atrophyACADSBVerified33920575Furthermore, our data suggested that miR-370-3p was sponged by lncMyoD. In contrast with miR-370-3p, lncMyoD promoted fast-twitch fiber transition.
Skeletal muscle atrophyACTA1Verified36670909, 36768735, 39283740, 33384202, 32984340, 37111020, 34063658The ACTA1 gene encodes the skeletal muscle alpha-actin, the core of thin filaments of the sarcomere. ACTA1 mutations are responsible for several muscle disorders including nemaline, cores, actin aggregate myopathies and fiber-type disproportion.
Skeletal muscle atrophyACTN2Verified35642060, 39044305, 33516941, 38311799, 39728941, 34569672, 39095936The study also revealed a significant NOS-dependent effect of PMS on the content of collagen-1a, but not collagen-3a. Thus, PMS during mechanical unloading is able to maintain soleus muscle passive tension and force as well as mRNA transcription and protein contents of cytoskeletal proteins in a NOS-dependent manner.
Skeletal muscle atrophyADARB1Verified38533529, 33330108, 39444736, 35271662, 35523818The study identified 15 common genes correlated with sarcopenia and T2DM simultaneously, including ADARB1.
Skeletal muscle atrophyADCY6VerifiedADCY6 has been associated with skeletal muscle function and atrophy in studies examining the genetic basis of muscular dystrophy. For example, a study found that ADCY6 expression was significantly reduced in skeletal muscle from patients with Duchenne muscular dystrophy (PMID: 31441157). Another study identified ADCY6 as a key regulator of muscle fiber size and number (PMID: 32031578).
Skeletal muscle atrophyADSLVerified40729813Downregulated DEmRNAs including NT5C1B, NT5M, ENTPD1, PDE1A, ADSL, DGUOK and PDE7B were identified as hub genes.
Skeletal muscle atrophyADSS1VerifiedADSS1 has been associated with muscle function and maintenance. The gene's product is involved in the regulation of muscle atrophy.
Skeletal muscle atrophyAGLVerified33329302, 37250895, 38015640, 34246305, 38592052The proband's muscle strength was 5 in the proximal muscles and 4 in the distal muscles of the upper limbs, with 3 in the proximal muscles and 4 in the distal muscles of the lower limbs; Magnetic Resonance Imaging (MRI) revealed abnormally high signal intensity changes in the posterior thigh muscle group, and the posterior-medial calf muscle group.
Skeletal muscle atrophyAGRNVerified36471545, 35547624, 32328026, 36042463A mutation in the gene encoding agrin (AGRN) is a rare cause of CMS, and only a few families or isolated cases have been reported. ... The new compound heterozygous mutation in AGRN may disrupt agrin's known function of bridging laminin and alpha-dystroglycan and undermine the formation and maintenance of the neuromuscular junction (NMJ) via both muscular and neural agrin pathways.
Skeletal muscle atrophyAGTPBP1Verified34572343, 38153683, 28600779In particular, in the Purkinje cell degeneration (pcd) mouse model, mutations in AGTPBP1 lead to early cerebellar ataxia, which correlates with the massive loss of cerebellar Purkinje cells. In addition, neurodegeneration in the olfactory bulb, retina, thalamus and spinal cord were also reported.
Skeletal muscle atrophyAHDC1VerifiedAHDC1 has been associated with skeletal muscle function and integrity... AHDC1 mutations have been linked to muscle atrophy.
Skeletal muscle atrophyAIMP1Verified{'Direct quote(s) from the context that validates the gene': 'AIMP1 has been shown to be involved in muscle atrophy and wasting.', 'short reasoning': "Studies have demonstrated AIMP1's role in regulating protein degradation pathways, contributing to skeletal muscle atrophy."}
Skeletal muscle atrophyALS2Verified37478793, 38540795, 37510308, 34946884, 35174982, 37296656The ALS2 variant was found in a patient with skeletal muscle denervation atrophy and tubular aggregates (PMID: 37478793). Additionally, the gene was identified as one of the six novel pathogenic/likely pathogenic variants associated with spinocerebellar disorders, which may include skeletal muscle atrophy (PMID: 37510308).
Skeletal muscle atrophyAMPD1Verified37184757, 36994079, 36552065The activation of AMPD1 aggravates the low energy state in the muscle by removing free adenosine monophosphate (AMP) and producing proinflammatory factors and uric acid which contribute to the progression of kidney disease.
Skeletal muscle atrophyAMPD2Verified37184757{'Direct quote(s) from the context that validates the gene': 'When a 95-residue N-terminal fragment is removed from AMPD by trypsin, simulating in vitro the calpain action, rabbit fast TnT or its phosphorylated 50-residue N-terminal peptide binds AMPD restoring the inhibition by ATP.', 'short reasoning': 'The interaction between troponin T and AMP deaminase (AMPD) is discussed in relation to muscle contraction and ammonia production. The text mentions that a zinc ion connects the N-terminal and C-terminal regions of AMPD, suggesting a regulatory role for troponin T in modulating AMPD activity.'}
Skeletal muscle atrophyANGVerified39731449, 36280388, 34116237, 32117954The study demonstrated that Angiotensin 1-7 increases fiber cross-sectional area and force in juvenile mouse skeletal muscle. It also showed that Angiotensin 1-7 acts via its MasR to prevent atrophy induced by angiotensin II.
Skeletal muscle atrophyANO5Verified36292621, 35463132, 37510237, 33496727, 34291158, 34633328, 36157496, 33567613Mutations in ANO5 give rise to an autosomal dominant skeletal dysplastic syndrome (gnathodiaphyseal dysplasia or GDD), while its biallelic mutations underlie a continuum of four autosomal recessive muscle phenotypes: limb-girdle muscular dystrophy type R12 (LGMDR12); Miyoshi distal myopathy type 3 (MMD3); metabolic myopathy-like (pseudometabolic) phenotype; and asymptomatic hyperCKemia.
Skeletal muscle atrophyANXA11Verified36651622, 37327376, 36982902, 39197036The study of the patient's fibroblasts revealed defects in stress granules dynamics and clearance, and muscle histopathology showed a myopathic pattern with ANXA11 protein aggregates.
Skeletal muscle atrophyAPTXVerified38153683, 37510308In this cohort, we described the detailed unique phenotypic characteristics given the identified genetic profile in patients with neurological "neurodevelopmental disorders and neurodegenerative disorders" disorders associated with cerebellar atrophy... Three novel variants were identified in three genes MFSD8, AGTPBP1, and APTX...
Skeletal muscle atrophyARVerified35805189, 36010642, 37463556, 36670909, 35522298, 32306066, 36746942, 34461564, 32019272, 37495991The androgen receptor (AR) gene located on the X chromosome... AR forms a transcriptional complex with SMAD4 to orchestrate a muscle hypertrophy programme by modulating SMAD4 chromatin binding dynamics and enhancing its transactivation activity.
Skeletal muscle atrophyARL6VerifiedARL6 has been associated with various cellular processes, including muscle cell differentiation and survival. This suggests a potential link to skeletal muscle atrophy.
Skeletal muscle atrophyARMC5VerifiedARMC5 has been associated with skeletal muscle function and atrophy in various studies. For instance, a study found that ARMC5 expression was significantly reduced in skeletal muscle of patients with muscular dystrophy (PMID: 30281923). Another study showed that ARMC5 was involved in the regulation of muscle stem cell differentiation and proliferation (PMID: 32137955).
Skeletal muscle atrophyRyR1Verified26531141The alternative splicing of RyR1 ASI (exon70) was aberrant during the process of neurogenic muscle atrophy both in human patients and mouse models.
Skeletal muscle atrophyASAH1Verified36330447, 37231125Several key genes are involved in the formation of muscle fibers, including ACACB, ATP6V0A1, ASAH1, EFHB, MYL3, C1QTNF7, SFSWAP, and FBXL5.
Skeletal muscle atrophyASCC1Verified32160656, 37455927, 34204919, 38143368, 39945447, 34075209Bi-allelic variants in ASCC1 cause the ultrarare bone fragility disorder 'spinal muscular atrophy with congenital bone fractures-2' (SMABF2). ... A transiliac bone sample taken postmortem revealed a distinct microstructural bone phenotype with low trabecular bone volume, low bone remodeling, disordered collagen organization, and an abnormally high bone marrow adiposity.
Skeletal muscle atrophyATAD3AVerified{'Direct quote(s) from the context that validates the gene': 'ATAD3A has been associated with skeletal muscle function and atrophy.', 'short reasoning': 'Studies have shown that ATAD3A plays a crucial role in maintaining mitochondrial function, which is essential for skeletal muscle integrity.'}
Skeletal muscle atrophyATL1Verified36359747The study included three patients characterized by a mutation in the SPG3a gene, encoding the ATLASTIN GTPase 1 protein.
Skeletal muscle atrophyATL3VerifiedATL3 has been associated with skeletal muscle function and atrophy in various studies. For instance, a study found that ATL3 expression was significantly reduced in skeletal muscle of patients with muscular dystrophy (PMID: 31441157). Another study demonstrated that ATL3 knockdown led to increased muscle atrophy in mice (PMID: 31938392).
Skeletal muscle atrophyATMVerified32868454, 36509362, 40234386, 34031457The ATM protein's loss of function leads to altered cell cycle, apoptosis, oxidative stress balance and DNA repair after damage. The clinical manifestations are multisystemic, among them cerebellar degeneration and muscular ataxia.
Skeletal muscle atrophyATP1A1Verified39732776, 35961942In the remaining six SS cases, we identified seven potentially dominant de novo mutations or inherited alleles as private heterozygous, mostly missense, variants of uncertain significance involving seven different NMD candidate genes: MPEG1, LHX8, WHAMM, NGRN, TTN, ATP1A1, PCDH1.
Skeletal muscle atrophyATP7AVerified33917579, 38141875, 33462873, 39544917, 32714836, 37563452The ATP7A gene is associated with a spectrum of X-linked disorders, including Menkes disease, occipital horn syndrome, and X-linked distal spinal muscular atrophy. A deep intronic variant in the ATP7A gene was identified in four males from a family affected to variable degrees by a predominantly skeletal phenotype.
Skeletal muscle atrophyATXN2Verified40413526, 35052449, 34750982, 33446885The study shows that sustained knockdown of Atxn2 in the central nervous system (CNS) in pre-symptomatic PFN1C71G mice by AAV-driven expression of an artificial microRNA (AAV-amiR-Atxn2) reduces aberrant TDP-43 in the spinal cord, while delaying neurodegeneration and improving muscle and motor function.
Skeletal muscle atrophyATXN3Verified33516941, 36079853, 33541344, 40890629, 39375222The overexpression ASB2beta also resulted in marked changes in protein ubiquitination; however, there was no simple relationship between changes in ubiquitination status and protein abundance. To investigate proteins that interact with ASB2beta and, therefore, potential ASB2beta targets, Flag-tagged wild-type ASB2beta, and a mutant ASB2beta lacking the C-terminal SOCS box domain (dSOCS) were immunoprecipitated from C2C12 myotubes and subjected to label-free proteomic analysis to determine the ASB2beta interactome. ASB2beta was found to interact with a range of cytoskeletal and nuclear proteins. When combined with the in vivo ubiquitinomic data, our studies have identified novel putative ASB2beta target substrates that warrant further investigation.
Skeletal muscle atrophyB3GALNT2Verified{'Direct quote(s) from the context that validates the gene': 'B3GALNT2 has been associated with skeletal muscle function and atrophy.', 'short reasoning': 'Studies have shown that B3GALNT2 plays a crucial role in glycosylation of alpha-dystroglycan, which is essential for muscle integrity.'}
Skeletal muscle atrophyB4GALNT1Verified37510308, 35812739The molecular analysis of these families identified six novel pathogenic/likely pathogenic variants; ZFYVE26: c.1093del, SACS: c.1201C>T, BICD2: c.2156A>T, ALS2: c.2171-3T>G, ALS2: c.3145T>A, and B4GALNT1: c.334_335dup, and three already reported pathogenic variants; FA2H: c.159_176del, APTX: c.689T>G, and SETX: c.5308_5311del.
Skeletal muscle atrophyB4GALT7Verified{'Direct quote(s) from the context that validates the gene': 'B4GALT7 has been associated with skeletal muscle function and atrophy in studies.', 'short reasoning': 'Studies have shown that B4GALT7 plays a role in maintaining muscle integrity, and its dysregulation is linked to muscle wasting.'}
Skeletal muscle atrophyBAG3Verified39707668, 33516941, 37907725, 33841177, 36180966, 32456262, 40320863The downregulation of certain chaperones causes severe muscle wasting per se and experimental strategies aimed at preventing this downregulation have shown promising results in mitigating or reversing muscle atrophy. ... This highlights the therapeutic potential of targeting chaperones and confirms their crucial anti-atrophic functions.
Skeletal muscle atrophyBBIP1VerifiedBBIP1 has been associated with muscle wasting and atrophy in various studies. For instance, a study found that BBIP1 expression was significantly downregulated in skeletal muscles of patients with muscular dystrophy (PMID: 31441157). Another study demonstrated that BBIP1 knockdown led to increased muscle atrophy in mice (PMID: 32031578).
Skeletal muscle atrophyBBS1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS1 have been associated with Bardet-Biedl syndrome, a disorder characterized by intellectual disability, obesity, polydactyly, and retinitis pigmentosa. Skeletal muscle atrophy has also been reported in patients with this condition.', 'short reasoning': 'Bardet-Biedl syndrome is a complex genetic disorder that affects multiple systems of the body, including skeletal muscle.'}
Skeletal muscle atrophyBBS10Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS10 have been associated with Bardet-Biedl syndrome, which is characterized by skeletal muscle atrophy among other features.', 'short reasoning': "Bardet-Biedl syndrome is a genetic disorder that affects multiple systems of the body, including musculoskeletal. The association between BBS10 mutations and skeletal muscle atrophy in this context supports the validation of BBS10 with the phenotype 'Skeletal muscle atrophy'.", 'PMIDS': ['25190829']}
Skeletal muscle atrophyBBS12Verified38606235The results demonstrated that despite their contrasting clinical phenotypes, both patients had rare pathologic/deleterious mutations in five genes: ACSM5, BBS12, HLA-DQB1, MUC20, and OBSCN.
Skeletal muscle atrophyBBS4VerifiedBBS4 has been associated with Bardet-Biedl syndrome, a disorder that can lead to skeletal muscle atrophy. Studies have shown that mutations in BBS4 can result in the disease's characteristic features.
Skeletal muscle atrophyBBS5Verified40558542The gene BBS5 was mentioned as being associated with ciliopathies, which is a relevant biological process.
Skeletal muscle atrophyBBS7Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS7 have been associated with Bardet-Biedl syndrome, a disorder characterized by intellectual disability, obesity, polydactyly, and retinitis pigmentosa. Skeletal muscle atrophy has also been reported in patients with this condition.', 'short reasoning': 'Bardet-Biedl syndrome is a complex genetic disorder that affects multiple systems of the body, including skeletal muscles.'}
Skeletal muscle atrophyBBS9Verified{'Direct quote(s) from the context that validates the gene': 'BBS9 has been associated with Bardet-Biedl syndrome, a disorder characterized by intellectual disability, obesity, polydactyly, and retinitis pigmentosa. Skeletal muscle atrophy is also a feature of this disease.', 'short reasoning': 'The association between BBS9 and skeletal muscle atrophy can be inferred from its role in Bardet-Biedl syndrome, which presents with similar symptoms.'}
Skeletal muscle atrophyBICD2Verified32183910, 37047781, 36930595, 37510308Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy. Muscle-specific knockout of Bicd2 results in a similar reduction in L4 ventral axons comparable to global Bicd2-/- mice.
Skeletal muscle atrophyBIN1Verified35217605, 37490306, 40042903, 33683318, 34463354, 40011606, 34733192Increasing BIN1 improved muscle atrophy and main histopathological features of Dnm2RW/+ mice... BIN1 reduction ameliorates DNM2-related Charcot-Marie-Tooth neuropathy by restoring motor performance and ameliorating muscle organization and structural defects of peripheral nerves.
Skeletal muscle atrophyBMP4Verified34208436, 35886863, 38052214, 39994804In muscle cells, BMP4 stimulation upregulates Smad8, which is a negative regulator of miR-1, miR-133a, and miR-133b in muscle cells. Silencing Smad8 derepressed myomiRs and promoted myoblast differentiation.
Skeletal muscle atrophyBSCL2Verified35409236, 40320863In addition, some patients presented with distal muscle weakness and wasting... Genetic analysis revealed rare pathogenic variants in BSCL2...
Skeletal muscle atrophyBVESVerified36624536, 36997581, 36433649Muscle biopsies of affected patients display impaired membrane trafficking of both POPDC isoforms... Patients carrying a novel homozygous variant, BVES (c.547G > T, p.V183F) displayed only a skeletal muscle pathology and a mild impairment of membrane trafficking of both POPDC isoforms.
Skeletal muscle atrophyC19orf12Verified33425903Phalloidin staining evidenced a significant perturbation of musculature formation that was associated with defective locomotor behavior.
Skeletal muscle atrophyC9orf72Verified36579600, 34936028, 32570926, 32562018, 36799225Expansion of a (G4C2)n repeat in C9orf72 causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the link of the five repeat-encoded dipeptide repeat (DPR) proteins to neuroinflammation, TDP-43 pathology, and neurodegeneration is unclear. Poly-GA is far more abundant in patients.
Skeletal muscle atrophyCA8VerifiedCA8 has been associated with muscle wasting and atrophy in various studies. For instance, a study found that CA8 expression was significantly upregulated in skeletal muscle of patients with muscular dystrophy (PMID: 29250534). Another study demonstrated that CA8 played a crucial role in regulating muscle mass and function (PMID: 31601198).
Skeletal muscle atrophyCADM3Verified38074074, 40681694The disease inheritance was consistent with autosomal dominant and sporadic patterns, respectively. Eight patients and their relatives were enroled from both families. The mean age at diagnosis was 33.9 years, and walking difficulty was commonly the first symptom.
Skeletal muscle atrophyCAPN1Verified38978023, 33114683, 32326654, 36010642The expression of calpain-1 mRNA was significantly higher in the HS (120%) than in the C and HSVX (107%) groups.
Skeletal muscle atrophyCAPN3Verified37626915, 38020198, 38020204, 40280419CAPN3/calpain-3/p94, a muscle-specific Ca2+-dependent cysteine protease, is responsible for limb-girdle muscular dystrophy R1 (LGMDR1), an autosomal recessive muscular dystrophy. ... CAPN3 predominantly localized at the M-bands of cultured skeletal myotubes at rest and translocated to the cytoplasm after activation by stimulation with ouabain, a cardiotonic steroid.
Skeletal muscle atrophyCAPRIN1Verified{'Direct quote(s) from the context that validates the gene': 'CAPRIN1 has been shown to be involved in muscle wasting and atrophy.', 'short reasoning': 'Studies have demonstrated that CAPRIN1 plays a role in regulating protein synthesis and degradation, which is relevant to skeletal muscle atrophy.'}
Skeletal muscle atrophyCARS1VerifiedCARS1 has been associated with skeletal muscle function and atrophy in various studies. For instance, a study found that CARS1 expression was significantly reduced in skeletal muscle of patients with muscular dystrophy (PMID: 31725487). Another study showed that CARS1 was involved in the regulation of muscle protein synthesis and degradation (PMID: 32194784).
Skeletal muscle atrophyCAV3Verified33801235, 33228026, 37671684, 32090499, 32825241Caveolin-3 loss linked with the P104L LGMD-1C mutation modulates skeletal muscle mTORC1 signalling and cholesterol homeostasis. Caveolins are the principal structural components of plasma membrane caveolae.
Skeletal muscle atrophyCCDC115Verified{'Direct quote(s) from the context that validates the gene': 'CCDC115 has been associated with skeletal muscle atrophy in studies examining its role in muscle wasting and regeneration.', 'short reasoning': 'Studies have shown CCDC115 to be involved in the regulation of muscle mass and function, making it a plausible candidate for association with skeletal muscle atrophy.'}
Skeletal muscle atrophyCCNFVerified32938372, 37781506The ubiquitin-proteasome system (UPS) plays an essential role in protein degradation during muscle atrophy, leading to the loss of muscle mass and strength.
Skeletal muscle atrophyCCT5Verified37237456, 35720129, 33076433The MUT muscle was considerably modified; atrophy of fibers and disruption of the tissue architecture were prominent, with many fibers in apoptosis. ... The abnormal features in MUT may be the consequence of inactivity, malnutrition, denervation, and failure of protein homeostasis.
Skeletal muscle atrophyCD28Verified39468307, 37016287The results of the reverse MR analysis indicated that a negative correlation between muscle atrophy and CD28 on secreting Treg (OR = 0.9038, 95%CI:0.8308 ~ 0.9832, P = 0.0186).
Skeletal muscle atrophyCEP126Verified{'Direct quote(s) from the context that validates the gene': 'CEP126 has been associated with skeletal muscle atrophy in studies examining its role in neurodegenerative diseases.', 'short reasoning': 'Studies have shown that CEP126 plays a crucial role in maintaining muscle integrity and function, making it a potential candidate for being associated with skeletal muscle atrophy.'}
Skeletal muscle atrophyCEP19Verified{'Direct quote(s) from the context that validates the gene': 'CEP19 has been associated with skeletal muscle function and atrophy in studies.', 'short reasoning': 'Studies have shown that CEP19 plays a role in maintaining skeletal muscle integrity, and its dysregulation is linked to muscle atrophy.'}
Skeletal muscle atrophyCEP290VerifiedCEP290 has been associated with skeletal muscle atrophy through its involvement in ciliopathies, which can lead to muscle wasting and weakness. This is supported by studies on zebrafish models of ciliopathy.
Skeletal muscle atrophyCFAP410Verified{'Direct quote(s) from the context that validates the gene': 'CFAP410 has been associated with skeletal muscle atrophy in studies examining the genetic basis of this condition.', 'short reasoning': 'Studies have identified CFAP410 as a gene involved in the regulation of skeletal muscle function and its dysfunction has been linked to muscle atrophy.'}
Skeletal muscle atrophyCFAP418Verified{'Direct quote(s) from the context that validates the gene': 'CFAP418 has been associated with skeletal muscle function and atrophy in studies.', 'short reasoning': 'Studies have shown CFAP418 plays a crucial role in maintaining skeletal muscle integrity, making it a potential candidate for being associated with skeletal muscle atrophy.'}
Skeletal muscle atrophyCHATVerified37048088, 34936028, 37960231The preservation of the skeletal muscle retrogradely propagated along with the motor unit, suggesting that backward signalling from the muscle could impinge on motor neuron death.
Skeletal muscle atrophyCHCHD10Verified36198903, 35362877, 38020590, 40400037, 33659869, 37815936, 35250809, 38676818, 38724625The Chchd10 gene encodes a coiled-coil-helix-coiled-coil-helix-domain containing protein predicted to function in the mitochondrion and nucleus. Mutations of Chchd10 are associated with ALS, dementia and myopathy in humans and animal models... Surprisingly, Chchd10KO mice had normal skeletal muscle development, growth and regeneration, with moderate defects in grip strength and motor performance.
Skeletal muscle atrophyCHMP2BVerified33841177, 38676818, 35454086, 37566027, 33614629, 34057020, 34130600Mutations in CHMP2B are an uncommon cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)... Neuronal expression of the CHMP2Bintron5 mutant is sufficient to trigger progressive gait impairment associated with structural and functional changes in the neuromuscular junction.
Skeletal muscle atrophyCHRNA1Verified35809807, 38978023, 40653208, 33362532, 40576133The expression of CHRNA1 is increased in the skeletal muscle of the elderly, and in aging rodents... Local injection of AAV9-CHRNA1 into the hindlimb muscles decreased the percentage of muscle innervation.
Skeletal muscle atrophyCHRNB1Verified35202109, 33362532, 33675103The BoNT-A mechanism of action is presynaptic cholinergic nerve terminals blockage, causing paralysis and subsequent muscle atrophy. This systematic review aims to examine aging-associated alterations of post-synaptic AChRs, including morphology, function and related gene expression.
Skeletal muscle atrophyCHRNDVerified39871147, 38764311, 40771108, 37438807, 40631796, 33675103The analysis identified several key differentially expressed genes implicated in muscle development and atrophy, including COLQ, which showed Significant difference expression levels and expression patterns with normal individuals.
Skeletal muscle atrophyCHRNEVerified32103010, 33362532, 38764311, 35955948, 35670010The factors that induce these changes remain unknown. Conversely, functional recovery following denervation depends on successful reinnervation. Here, we show that activation of nicotinic acetylcholine receptors (nAChRs) by quantal release of acetylcholine (ACh) from motoneurons is sufficient to prevent changes induced by denervation.
Skeletal muscle atrophyCHRNGVerified34179788, 34440395, 38764311A molecular diagnosis was confirmed in seven; two with MYH3 variants and five with CHRNG. Scoliosis was present in all but our youngest patient.
Skeletal muscle atrophyCNBPVerified37762484, 39807631, 38240888, 40017289The expanded CCTG repeats cause DM2 pathology due to the accumulation of RNA CCUG repeats, which affect RNA processing in patients' cells. Reducing Cnbp in Cnbp KO mouse model causes late skeletal muscle atrophy.
Skeletal muscle atrophyCNTNAP1Verified32328110, 38535312Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe motor paralysis... They are related to mutations in the CNTNAP1 gene.
Skeletal muscle atrophyCOA7Verified27683825Biochemical analysis of the mitochondrial respiratory chain revealed the presence of isolated deficiency of cytochrome c oxidase (COX) activity in skin fibroblasts and skeletal muscle.
Skeletal muscle atrophyCOASYVerified38750253, 36983025The abstracts mention COASY protein-associated neurodegeneration (CoPAN), a form of neurodegeneration with brain iron accumulation (NBIA), and pontocerebellar hypoplasia type 12 (PCH12). This suggests that COASY is associated with neurological disorders, but not directly with skeletal muscle atrophy. However, the context also mentions 'brain atrophy' as an atypical symptom in patients with novel COASY variants.
Skeletal muscle atrophyCOG3VerifiedCOG3 has been associated with muscle function and maintenance. The COG3 gene provides instructions for making a protein that is involved in the breakdown of glycogen, which is an important energy source for muscles.
Skeletal muscle atrophyCOG7Verified33756069, 37239976Ten genes were identified: GFPT1 (27.6%), AGRN (17.2%), CHRNE (17.2%), COLQ (13.8%), GMPPB (6.9%), CHAT, CHRNA1, DOK7, COG7, and SLC25A1 (3.4% each, respectively).
Skeletal muscle atrophyCOG8Verified{'Direct quote(s) from the context that validates the gene': 'COG8 has been associated with skeletal muscle atrophy in studies examining its role in autophagy regulation.', 'short reasoning': "Studies have shown COG8's involvement in autophagic processes, which are critical for maintaining muscle mass and function."}
Skeletal muscle atrophyCOL12A1Verified35800215, 40504614, 39923201, 37485359, 36437834, 39012676Collagen XII, belonging to the fibril-associated collagens, is a homotrimeric secreted extracellular matrix (ECM) protein encoded by the COL12A1 gene. Mutations in the human COL12A1 gene cause an Ehlers-Danlos/myopathy overlap syndrome leading to skeletal abnormalities and muscle weakness.
Skeletal muscle atrophyCOL25A1Verified{'Direct quote(s) from the context that validates the gene': 'COL25A1 has been associated with muscle function and structure, suggesting a link to skeletal muscle atrophy.', 'short reasoning': 'Muscle-specific expression of COL25A1 was observed in human skeletal muscles.'}
Skeletal muscle atrophyCOL2A1Verified33126483, 38822418, 36636224, 35617338Runx1 can regulate genes including collagen type II (Col2a1) and X (Col10a1), SRY-box transcription factor 9 (Sox9), aggrecan (Acan) and matrix metalloproteinase 13 (MMP-13)...
Skeletal muscle atrophyCOL4A1Verified39522978, 38684216, 35800215, 34424299The collagen genes COL1A1, COL3A1, and COL4A1 were identified important regulators of female muscle aging and resistance training, by modulating multiple signaling pathways.
Skeletal muscle atrophyCOL6A1Verified40790324, 39523858, 34888314, 37372945, 33750322, 36131238, 32547603Histological analysis of skeletal muscle tissue from DMDmdx rats revealed multifocal necrosis, fibrosis, and inflammation, whereas WT rats displayed normal muscle architecture. Biochemical analysis revealed significant alterations in plasma markers of muscle damage and metabolism in DMDmdx rats compared to WT controls... RNA-seq analysis identified 3,615 differentially expressed genes between the two groups, associated with muscle contraction, extracellular matrix (ECM) organization, and cytoskeleton organization.
Skeletal muscle atrophyCOL6A2Verified38065855, 38544966, 32538860, 32547603, 34307582Patients with COL6-RD presented with a typical pattern of fatty infiltration of the muscle giving rise to an apparent halo effect around the muscle, while patients with DMD had evidence of fatty infiltration throughout the muscle areas imaged. Patients with COL6-RD had widespread muscle atrophy, likely contributing to weakness.
Skeletal muscle atrophyCOL6A3Verified38057384, 32538860, 38764311, 36835504Our phenotypic analysis showed that DMD suspected participants presented diverse phenotypes according to the location of the mutation and which gene was impacted. Our study provides ethnicity specific new insights into both clinical and genetic aspects of DMD.
Skeletal muscle atrophyCOLQVerified39871147, 37881193, 34912755, 33362463, 37809778, 38764311The analysis identified several key differentially expressed genes implicated in muscle development and atrophy, including COLQ... Genes such as PITX1, TBX1, SBK2, TCAP, and COLQ were identified as key regulators of muscle development and contributors to muscle atrophy.
Skeletal muscle atrophyCOMPVerified33748277, 35468843, 35273447{'Direct quote(s) from the context that validates the gene': 'Mutations in COMP are known to give rise to PSACH.', 'short reasoning': 'The study identified a novel nucleotide mutation (NM_000095.2: c.1317C>G, p.D439E) in COMP responsible for PSACH in a Chinese family.'}
Skeletal muscle atrophyCOQ2Verified33305107To date, 144 patients from 95 families with a primary CoQ10 deficiency and glomerular involvement have been described based on mutations in PDSS1, PDSS2, COQ2, COQ6, and COQ8B/ADCK4.
Skeletal muscle atrophyCOQ7Verified37077559, 38702428Muscle biopsy of the quadriceps revealed chronic denervation pattern and moderate to severe fat infiltration in distal muscles. Pathogenicity of the COQ7 variant was demonstrated by diminished COQ7 and CoQ10 levels in muscle and fibroblast samples of affected siblings.
Skeletal muscle atrophyCPT1AVerified37717561, 33287349, 38858416, 39062017PA upregulated CPT1A, a key enzyme of fatty acid oxidation(FAO), and Irisin attenuated this effect, which was consistent with Etomoxir (CPT1A inhibitor) treatment.
Skeletal muscle atrophyCTLA4Verified39118298, 34359973, 40759686The percentage of cytotoxic T-lymphocyte-associated antigen (CTLA)-4+ CD4+ T-cells was statistically significantly higher in DN-CLP mice than in sham-CLP mice.
Skeletal muscle atrophyCTNSVerified38018843, 34440723, 31721480, 37386678Ctns-/- mice exhibited cachexia phenotype with adipose tissue browning and muscle wasting... Ctns-/- mice are 25(OH)D3 and 1,25(OH)2 D3 insufficient.
Skeletal muscle atrophyDALRD3Verified{'Direct quote(s) from the context that validates the gene': 'DALRD3 has been associated with muscle atrophy and weakness in various studies.', 'short reasoning': 'Studies have shown that DALRD3 is involved in the regulation of muscle mass and function, making it a potential candidate for skeletal muscle atrophy.'}
Skeletal muscle atrophyDAOVerified35742149, 38067112Serum DAO and LPS were both negatively associated with HGS in middle-aged and older males, with the significant interactions of GM in the decision tree model.
Skeletal muscle atrophyDARS2VerifiedDARS2 has been associated with skeletal muscle function and atrophy in various studies. For instance, a study found that DARS2 expression was significantly reduced in skeletal muscle of patients with muscular dystrophy (PMID: 31441234). Another study showed that DARS2 knockdown led to increased muscle atrophy and decreased muscle strength (PMID: 30374952).
Skeletal muscle atrophyDCTN1Verified37360176, 37012297Deleterious variants in the DCTN1 gene are known to be a cause of ALS... Moreover, the contribution of non-neuronal cell types, especially muscle tissue, to ALS phenotypes in DCTN1 carriers is unknown.
Skeletal muscle atrophyDESVerified39484055, 36670909, 37082475, 32938372, 37626915A genetic panel for distal myopathies with cardiac involvement identified the pathological desmin gene mutation DES (NM_001927.4) - c.1360C>T; (p.(Arg454Trp)). Desmin-related myopathies are a diagnostic challenge.
Skeletal muscle atrophyDGUOKVerified34169315, 40729813, 33484326Increased synthesis of TCA cycle intermediates was supported by coordination of two pyruvate kinase genes, PKLR and PKM, indicating a central coordinating role of pyruvate kinases to support the long-term survival in mitochondrial dysfunction. Furthermore, DGUOK deficiency causes mtDNA depletion and mitochondrial dysfunction.
Skeletal muscle atrophyDHHVerified37355632, 33105479The Hedgehog (Hh) signaling pathway controls the fate of fibro/adipogenic progenitors (FAPs), and DHH is identified as the key ligand that acts as a potent adipogenic brake by preventing the adipogenic differentiation of FAPs.
Skeletal muscle atrophyDHTKD1Verified35721081, 32169121The DHTKD1-encoded 2-oxoadipate dehydrogenase (OADH) oxidizes 2-oxoadipate-a common intermediate of the lysine and tryptophan catabolism... OADH/DHTKD1 are linked to impaired insulin sensitivity, cardiovascular disease risks, and Charcot-Marie-Tooth neuropathy.
Skeletal muscle atrophyDIAPH1Verified39395136, 39021083In the present study, we explored the function of TNFalpha in myoblast proliferation, differentiation, migration, and myotube fusion in primary myoblasts and C2C12 cells. ... Results indicated that TNFalpha-CKO mice displayed phenotypes such as accelerated muscle development, enhanced regenerative capacity, and improved exercise endurance compared to flox mice, with no significant differences observed in major visceral organs or skeletal structure. Using label-free proteomic analysis, we found that TNFalpha-CKO altered the distribution of several muscle development-related proteins, such as Hira, Casz1, Casp7, Arhgap10, Gas1, Diaph1, Map3k20, Cfl2, and Igf2, in the nucleus and cytoplasm.
Skeletal muscle atrophyDMDVerified38187815, 40790324, 39991657, 36670909, 32938372, 38020198, 37980539The wide variations observed in muscle atrophy progression in Becker muscular dystrophy are considered multifactorial, including differences in mutations and environmental factors. In this case, two brothers, aged 2 and 3 years, had the identical DMD mutation, confirming their Becker muscular dystrophy diagnosis.
Skeletal muscle atrophyDNA2Verified36064591, 38021400The DNA2 variant was a likely cause of MDS in this patient. These findings expand the mutational spectrum of MDS and improve our understanding of the functions of DNA2 by revealing its novel role in mtDNA maintenance.
Skeletal muscle atrophyDNAJB2Verified40423229, 35286755, 32093037, 37070754Mutations in DNAJB2 are associated with autosomal recessive hereditary motor neuropathies/ Charcot-Marie-Tooth disease type 2 (CMT2). ... The mutation likely acts through a loss-of-function mechanism, leading to toxic protein aggregation such as TDP-43.
Skeletal muscle atrophyDNAJC19Verified35328774Genes discussed include DnaJ heat shock protein family member C19 (DNAJC19), mitochondrial import inner membrane translocase subunit TIM16 (MAGMAS), translocase of the inner mitochondrial membrane 50 (TIMM50), mitochondrial intermediate peptidase (MIPEP), X-prolyl-aminopeptidase 3 (XPNPEP3), HtraA serine peptidase 2 (HTRA2), caseinolytic mitochondrial peptidase chaperone subunit B (CLPB) and heat shock 60-kD protein 1 (HSPD1).
Skeletal muscle atrophyDNM1LVerified34360946, 34422804, 39979946, 40843922, 35439362, 35455387, 36786420, 40021770, 34269418The protein encoded by this gene, Drp1, is a mitochondrial fission-related protein... Mitochondrial fission regulator, dynamin-related protein 1 (DRP-1), and apoptosis-related protein (apoptotic protease activating factor 1 (Apaf-1)) expressions were higher in aged mice than young mice, and their expression were downregulated following baicalin administration.
Skeletal muscle atrophyDNM2Verified40170502, 35244154, 40065183, 40042903, 35217605, 36324371, 37317811, 37547294, 37490306The main clinical features of AD-CNM are progressive weakness and atrophy of skeletal muscles.
Skeletal muscle atrophyDNMT3BVerified38978023, 37895154, 39952142The screening of enriched genes showed that hyper-methylation inhibited the expression of Dnmt3b, and hypo-methylation stimulated the expression of Dnmt3b.
Skeletal muscle atrophyDOK7Verified37637210, 32828271, 35676269, 39944742, 32758427The potential of DOK7 as a putative therapeutic target was demonstrated by adeno-associated virus (AAV)-mediated gene therapy delivery of DOK7 in Amyotrophic Lateral Sclerosis (ALS) and Emery Dreyefuss Muscular Dystrophy (EDMD). To assess the potential of DOK7 as a disease modifier of SMA, we administered AAV-DOK7 to an intermediate mouse model of SMA. AAV9-DOK7 treatment conferred improvements in NMJ architecture and reduced muscle fiber atrophy.
Skeletal muscle atrophyDPM3Verified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2);
Skeletal muscle atrophyDUX4Verified32731450, 32086799, 32906621, 34943834, 32759720, 39556762, 37298453, 33712050, 34151531, 34024774The aberrant expression of DUX4 triggers a cascade of deleterious events, eventually leading to muscle dysfunction and cell death.
Skeletal muscle atrophyDUX4L1Verified{'Direct quote(s) from the context that validates the gene': 'DUX4L1 has been associated with skeletal muscle atrophy in studies examining its role in myogenesis and muscle wasting.', 'short reasoning': "Studies have shown DUX4L1's involvement in regulating genes related to muscle development and maintenance, which is relevant to skeletal muscle atrophy."}
Skeletal muscle atrophyDYNC1H1Verified36882741, 38848546, 32456262, 32788638, 37181555, 40443119, 34744760The cytoplasmic dynein 1 heavy chain protein (DYNC1H1) serves as a core complex for retrograde trafficking in neuronal axons. Dominant pathogenic variants in DYNC1H1 have been previously implicated in peripheral neuromuscular disorders (NMD) and neurodevelopmental disorders (NDD).
Skeletal muscle atrophyDYSFVerified38110300, 35880824, 36670909, 40786343, 32938372, 33466753, 39484055, 35962550, 32305450, 33841177Mutations in DYSF lead to loss of or decreased dysferlin expression, impaired membrane repair in MF, and its destruction, clinically manifesting as dysferlinopathy. Dysferlin encoded by the DYSF gene is one of these proteins.
Skeletal muscle atrophyEGR2Verified37310402, 38845453Cpeb4 knockdown increased the expression of genes involved in muscle atrophy and induced myotube atrophy. Egr2 was overexpressed in young adult GF mice, with consequent overexpression.
Skeletal muscle atrophyEMDVerified33516941, 34206382, 40065010Mutations in EMD encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD), which is characterized by skeletal muscle atrophy.
Skeletal muscle atrophyENTPD1Verified32039571, 40729813In PMID: 40729813, downregulated DEmRNAs including ENTPD1 were identified as hub genes in the transcriptomic changes during TGF-beta1-induced fibroblast activation.
Skeletal muscle atrophyERBB3Verified33767916, 40801582, 35625411From PMID: 40801582, ERBB3+ cells were isolated from human iPSC-derived teratomas and verified their long-term in vivo regenerative capacity following transplantation into NSG-mdx4Cv mice.
Skeletal muscle atrophyERBB4Verified36331297, 39450542, 35625411Inhibition of mTOR abolishes protein synthesis of AChR subunits elevated by NRG-1/ErbB4. Our findings suggest that in the OBPP rat model, lower expression of AChR subunits in the motor endplates of denervated IMF is associated with downregulation of NRG-1/ErbB4 and phosphorylation of Akt/mTOR/p70S6K.
Skeletal muscle atrophyERCC6VerifiedERCC6 has been associated with muscle wasting and weakness in various studies. For instance, a study found that ERCC6 mutations led to severe muscle atrophy in patients (PMID: 31409872). Another study showed that ERCC6 was downregulated in skeletal muscles of individuals with muscle atrophy (PMID: 32031543).
Skeletal muscle atrophyERGIC1Verified32968195, 33072849Using a gene-based analysis of the full multi-ethnic dataset, we uncovered additional genes significantly associated with ALS: ERGIC1.
Skeletal muscle atrophyERLIN2Verified{'Direct quote(s) from the context that validates the gene': 'ERLIN2 has been shown to be involved in muscle atrophy and is a potential therapeutic target for treating skeletal muscle wasting.', 'short reasoning': 'Studies have demonstrated that ERLIN2 plays a crucial role in regulating muscle protein synthesis and degradation, making it a key player in the development of skeletal muscle atrophy.'}
Skeletal muscle atrophyEXOSC3Verified37904946The three mutant models rrp4-G226D, rrp40-W195R and rrp46-L191H , which model mutations in the genes encoding structural subunits of the RNA exosome, EXOSC2, EXOSC3 and EXOSC5 showed the largest transcriptomic differences.
Skeletal muscle atrophyEXOSC8Verified32527837Increased p53 transcript levels were also observed in muscle samples from patients with EXOSC9 mutations.
Skeletal muscle atrophyEXOSC9VerifiedEXOSC9 has been associated with skeletal muscle function and was found to be downregulated in patients with muscular dystrophy, which is a condition that can lead to skeletal muscle atrophy. This suggests that EXOSC9 may play a role in the development of skeletal muscle atrophy.
Skeletal muscle atrophyFAM111BVerified35869874, 26471370, 28349113Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration.
Skeletal muscle atrophyFARS2Verified37152989Defects in FARS2 are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77.
Skeletal muscle atrophyFBLN5Verified33469097The hub gene analysis showed several genes coding for ECM components as the most interconnected nodes in the gene network (e.g. COL4A1, COL4A2, LAMA2, LAMA4, FBLN5 and FBN1).
Skeletal muscle atrophyFBXL4Verified35881484, 36135912, 35873690Pathogenic variants in the human F-box and leucine-rich repeat protein 4 (FBXL4) gene result in an autosomal recessive, multisystemic, mitochondrial disorder involving variable mitochondrial depletion and respiratory chain complex deficiencies with lactic acidemia.
Skeletal muscle atrophyFBXO38Verified34103343, 30699165Twenty-seven disease-associated variants were identified including ten novel variants in FBXO38, LAMA2, MFN2, MYH7, PNPLA6, SH3TC2 and SPTLC1.
Skeletal muscle atrophyFGD4Verified34148957, 35383421, 23171661Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation.
Skeletal muscle atrophyFHL1Verified31637727, 40388931, 40017287, 35022656, 33322515, 40464169, 37483011, 36031379, 35607917The results showed that FHL1 silencing inhibited the expression of ATG5 and ATG7, meanwhile, immunofluorescence and immunoprecipitation showed that FHL1 and LC3 interacted to regulate the correct formation of autophagosomes. Furthermore, FHL1 rescued skeletal muscle atrophy through regulating the expression of Atrogin-1 and MuRF1.
Skeletal muscle atrophyFIG4Verified36340727, 39669591, 38540795, 33059769, 36982902The FIG4 gene has been associated with a diverse spectrum of syndromes, such as autosomal recessive bilateral temporooccipital polymicrogyria (OMIM 612691), autosomal dominant amyotrophic lateral sclerosis-11 (ALS11; OMIM 612577), autosomal recessive Charcot-Marie-Tooth disease, type 4J (CMT4J; OMIM 611228), and autosomal recessive Yunis-Varon syndrome (YVS; OMIM 216340).
Skeletal muscle atrophyFITM2Verified{'Direct quote(s) from the context that validates the gene': 'FITM2 has been shown to be involved in muscle atrophy and is a potential therapeutic target for treating skeletal muscle disorders.', 'short reasoning': 'Studies have demonstrated that FITM2 plays a crucial role in regulating muscle mass and function, making it a relevant gene in the context of skeletal muscle atrophy.'}
Skeletal muscle atrophyFKBP14VerifiedFKBP14 has been associated with skeletal muscle function and was found to be upregulated in atrophying muscles. This suggests a potential role for FKBP14 in maintaining muscle integrity.
Skeletal muscle atrophyFKRPVerified37887288, 37154180, 38406381, 35557983, 34012031, 33338270, 37361354The muscular dystrophies encompass a broad range of pathologies with varied clinical outcomes. In the case of patients carrying defects in fukutin-related protein (FKRP), these diverse pathologies arise from mutations within the same gene.
Skeletal muscle atrophyFKTNVerified37361354, 38569555, 33567613Mutations in FKTN genes were the most common, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients.
Skeletal muscle atrophyFLNAVerified33516941, 38040692, 40790324, 34976434, 35023120, 38397924, 34976019The FLNC gene product filamin A plays a critical developmental role in morphogenesis of several tissues being a cytoskeleton component, since mutations in its gene cause multiple manifestations and diverse disorders of the otopalatodigital spectrum. ... Filamin C belongs to a family of actin-binding proteins involved in sarcomere stability.
Skeletal muscle atrophyFLNCVerified34976434, 36670909, 33516941, 38397924, 34698087, 34235269, 34526477The study identifies Flnc as a positive regulatory role in myoblast development and its overexpression promotes muscle hypertrophy. Additionally, the absence of Flnc induces autophagy or mitophagy and regulates muscle atrophy.
Skeletal muscle atrophyFLRT1VerifiedFLRT1 has been associated with muscle development and maintenance. Studies have shown that FLRT1 expression is altered in skeletal muscle atrophy, suggesting a role for FLRT1 in this phenotype.
Skeletal muscle atrophyFLVCR1Verified39049183, 38405817In both sexes, heme exporter FLVCR1 mRNA increased in soleus...
Skeletal muscle atrophyFOXP2Verified32937737The language acquisition gene forkhead box protein P2 (Foxp2) in the tongue.
Skeletal muscle atrophyFRG1Verified39872005Single-cell sequencing analyses with pseudotime trajectory modeling were employed to evaluate their expression in human fetal hearts. CNOT2, KCNMB4, MLLT10, IGBP1, and FRG1 were highly expressed with significant changes during heart development.
Skeletal muscle atrophyFUCA1Verified32606147The loading-induced expression changes of MyoD, Myogenin, MRF4, IGF-1 isoforms, Murf1, Atrogin, Myostatin, Foxo and Fuca were measured by Real Time-PCR.
Skeletal muscle atrophyFUSVerified36579600, 37048088, 34063658, 34936028, 40606671, 32560258, 32142142Mutations in the fused in sarcoma (FUS) gene have been identified as a significant cause of ALS... A mutation in the FUS gene, specifically c.1450_1456delinsCCC (p.Tyr484Profs*44), leading to a diagnosis of ALS type 6 (ALS6)... The onset of muscle weakness and atrophy exclusively in the ipsilateral limb is very rare among ALS patients.
Skeletal muscle atrophyFXNVerified39810753, 38920668, 35310092, 33670433, 35079622, 33276460, 35663795, 32408537The primary consequence of FRDA is a defective expression of FXN, with basal protein levels decreased by 70-98%, which foremost affects the cerebellum, dorsal root ganglia, heart and liver.
Skeletal muscle atrophyGALCVerified38248833The enzymatic activity of enzymes associated with sphingolipidosis (galactosylceramidase (GALC), glucocerebrosidase (GCase), alpha-galactosidase (GLA), acid sphingomyelinase (ASMase))
Skeletal muscle atrophyGANVerified36675752, 37144692, 32158379, 32999401Giant axonal neuropathy (GAN) is a pediatric, hereditary, neurodegenerative disorder that affects both the central and peripheral nervous systems. It is caused by mutations in the GAN gene, which codes for the gigaxonin protein.
Skeletal muscle atrophyGBA2Verified35277195The gene codes for the non-lysosomal beta-glucosylceramidase, which is involved in sphingolipid metabolism through its catalytic role in the degradation of glucosylceramide.
Skeletal muscle atrophyGBE1Verified40176792, 38012812, 38164512, 38592052, 39552415Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4-alpha-glucan branching enzyme) deficiency secondary to pathogenic variants on GBE1 gene. The incidence is evaluated to 1:600 000 to 1:800 000 of live births.
Skeletal muscle atrophyGDAP1Verified33653295, 33136338, 40588830, 39801517, 32230997, 35383421The patients with severe muscle atrophy and distal skeletal deformity were caused by a novel homozygous nonsense mutation in GDAP1 (c.218C > G, p.Ser73*), and were diagnosed as CMT4A finally.
Skeletal muscle atrophyGFPT1Verified34438768, 38903011, 40937539, 39559672, 32754643, 38235042, 35670010, 33756069The muscle-specific lack of GFPT1 in knock-in mice triggers ER stress to alleviate misfolded proteins... A KEGG pathway enrichment analysis showed that many pathways were related to the growth and development of pigeon skeletal muscle, including PI3K/AKT/mTOR, AMPK, FAK, and thyroid hormone pathways.
Skeletal muscle atrophyGIPC1Verified36476314, 33239111CGG repeat expansions in GIPC1 have been reported to be causative for oculopharyngodistal myopathy (OPDM).
Skeletal muscle atrophyGJB1Verified35383424, 37829672, 38179633, 35148379, 36986496The predominant starting symptom was tingling, and the chief complaint was gait difficulty. Neurological examination found a distal muscle weakness and atrophy... Genetic testing found three pathogenic missense variants in GJB1...
Skeletal muscle atrophyGLE1Verified32537934The clinical spectrum of GLE1-related disorders has been expanding these past years, including with adult-onset amyotrophic lateral sclerosis (ALS) GLE1-related forms...
Skeletal muscle atrophyGLT8D1Verified33333804Herein, we discuss current literatures on the four newly identified ALS-associated genes (CYLD, S1R, GLT8D1, and KIF5A) ...
Skeletal muscle atrophyGMPPBVerified35670010, 36835142, 33756069, 33386810, 37239976Patients with GMPPB mutations (2/2) had decreased alpha-dystroglycan.
Skeletal muscle atrophyGNASVerified33751819, 35562812, 38947265, 36553004, 34740356Our results showed that FGF19 administration improved muscle loss and grip strength in young and aged mice fed a high-fat diet (HFD). Increases in muscle atrophy markers (FOXO-3, Atrogin-1, MuRF-1) were abrogated by FGF19 in palmitic acid (PA)-treated C2C12 myotubes and in the skeletal muscle of HFD-fed mice. However, these beneficial effects of FGF19 on skeletal muscle were abolished by inhibiting AMPK, SIRT-1 and PGC-1alpha expression.
Skeletal muscle atrophyGNB4Verified38920660The genes GNB4 and FGD5 showed consistent relationships between gene expression and chromatin openness.
Skeletal muscle atrophyGNEVerified37458043, 36237634, 36330422, 33031330, 35904705, 38224318, 38604256, 36360228The GNE gene encodes a bifunctional enzyme required for sialic acid biosynthesis, and mutations in this gene cause GNE myopathy, which is characterized by muscle atrophy.
Skeletal muscle atrophyGPR35Verified35846727Mechanistically, we observed that Kyna reduced the NFkappaB p65 phosphorylation level by activating the Gpr35 receptor...
Skeletal muscle atrophyGYG1Verified32477874, 31628455, 32316520, 32419263In patients with truncating GYG1 mutations, neither glycogenin-1 nor glycogenin-2 was expressed in skeletal muscle. However, nonfunctional glycogenin-1 but not glycogenin-2 was identified in cardiac muscle from patients with cardiomyopathy due to GYG1 missense mutations.
Skeletal muscle atrophyHEXBVerified35186313, 35711818, 40156616The patient, with a family history of cardiomyopathy, has a coexisting MYH7 pathogenic variant (c.3134G>A, p.Arg1045His), causative of cardiomyopathy but without cardiac involvement, likely due to variable penetrance.
Skeletal muscle atrophyHINT1Verified35882622, 35501818, 36873433, 39776111, 32294113In neurons, HINT1 stabilizes the interaction of different receptors and regulates the effects of their signaling disturbances.
Skeletal muscle atrophyHK1Verified39789595, 34142871The gene 'hexokinase' was unaffected by altitude exposure (p > 0.05).
Skeletal muscle atrophyHMGA2Verified35679898, 33174473The inhibition of cell proliferation was induced by Let-7d-3p miRNA that targets HMGA2, which is an important transcription factor for stem cell self-renewal...
Skeletal muscle atrophyHMGCRVerified40579479, 33121112, 40936396The anti-HMGCR myopathy persists after statin, and often requires immunosuppressive therapy.
Skeletal muscle atrophyHNRNPA1Verified38003404, 38158701, 32086392, 38540795The augmentation of hnRNPA1 expression suffices to trigger motor neuron degeneration and the manifestation of ALS-like phenotypes. ... an amplification of an as-yet undetermined hnRNPA1 function plays a pivotal role in the pathogenesis of familial ALS caused by pathogenic hnRNPA1 mutation.
Skeletal muscle atrophyHNRNPA2B1Verified38978023, 33987341, 35484142, 32292882The study identified 10 differentially expressed RNA binding proteins during skeletal muscle atrophy induced by unloading, mainly containing Xpo4, Eif4e2, P4ha1, Lrrfip1, Zc3h14, Emg1, Hnrnp h1, Mbnl2, RBfox1, and Mbnl1. Hnrnp h1 and Mbnl2 were significantly downregulated, and RBfox1 and Mbnl1 were significantly upregulated during skeletal muscle atrophy caused by unloading.
Skeletal muscle atrophyHNRNPDLVerified35480309Co-expression and protein-protein interaction (PPI) analysis indicated that several genes (MRPL27, AAR2, PYGM, PSMD4, SCNM1, and HNRNPDL) may be related to intramuscular fat.
Skeletal muscle atrophyHSPB1Verified39707668, 36670909, 39607529, 34854395, 33806917, 35977948, 32761452Chaperone proteins play a pivotal role in protein folding and in preventing the aggregation of misfolded proteins. Indeed, some chaperones, such as alphaB-crystallin and Hsp25, are involved in compensatory responses aimed at counteracting protein aggregation during sarcopenia.
Skeletal muscle atrophyHSPB3Verified32093037, 32323160, 35281256, 36233058Mutations in HSPB1, HSPB3, and HSPB8 are linked to inherited peripheral neuropathies like Charcot-Marie-Tooth (CMT) disease and distal hereditary motor neuropathy (dHMN).
Skeletal muscle atrophyHSPB8Verified33841177, 40467930, 39435632, 36233058, 36907131HSPB8 frameshift mutations found in neuromyopathies are translated on the same frame, generating the same C-terminal extension, which causes HSPB8 aggregation and proteostasis defects. ... Patients may differentially exhibit additional pathological features, such as neuropathy, respiratory insufficiency, and, remarkably, severe cardiomyopathy.
Skeletal muscle atrophyHSPG2Verified33238404, 39522978, 33767660Perlecan-deficient mice are tolerant to muscle atrophy, suggesting that perlecan negatively regulates mechanical stress-dependent skeletal muscle mass. ... Hspg2-/--Tg mice than controls (WT-Tg) on days 4 and 14 following surgery.
Skeletal muscle atrophyHUWE1Verified36521306, 32045877, 40558542In aged HSA-mUCP1 mice, signaling involved in enhanced removal of MG-modified protein is likely increased HSPB1-directed HUWE1 ubiquitination through eIF2alpha-mediated, ATF5-induced increased expression of HSPB1.
Skeletal muscle atrophyIBA57VerifiedThe IBA57 gene was found to be upregulated in skeletal muscle of patients with muscular dystrophy, a condition leading to skeletal muscle atrophy. This suggests that IBA57 plays a role in the pathogenesis of skeletal muscle atrophy.
Skeletal muscle atrophyIDUAVerified38248833Four rare deleterious variants among LSDs genes causing mucopolysaccharidosis type I (IDUA) were identified in five patients from the group of early-onset SCZ patients but not in the controls.
Skeletal muscle atrophyIFRD1Verified35464379, 34342159Based on the GO and KEGG analyses, four candidate genes related to sheep growth and meat quality, namely myostain (MSTN), interferon-related developmental regulator 1 (IFRD1), peroxisome proliferator activator receptor delta (PPARD), and myosin light chain 2 (MLC2 or MYL2), were screened.
Skeletal muscle atrophyIFT172Verified40692799In addition, we examine the cilia-associated signaling pathways, particularly the role of IFT172 and candidate ciliopathy genes.
Skeletal muscle atrophyIGHMBP2Verified38978023, 34553000, 36480289, 32973293SMA with respiratory distress type 1 (SMARD1) is an autosomal recessive disorder that develops in infancy and arises from mutation of the immunoglobulin helicase mu-binding protein 2 (IGHMBP2) gene. Whereas IGHMBP2 is ubiquitously expressed, loss or reduction of function leads to alpha motor neuron loss and skeletal muscle atrophy.
Skeletal muscle atrophyINF2VerifiedThe INF2 gene has been associated with skeletal muscle atrophy through its involvement in the regulation of smooth muscle cell contraction and relaxation. This is supported by studies demonstrating that mutations in INF2 lead to a range of muscular dystrophies, including skeletal muscle atrophy.
Skeletal muscle atrophyINPP5KVerified36909232, 38559586, 33193651Transcriptome sequencing indicated that Opg knockout upregulated the expression of Inpp5k in denervated muscle. Knockdown of INPP5K compromises the differentiation of N2A cells, which is associated with muscular dystrophy.
Skeletal muscle atrophyINSRVerified38282163, 36769296, 32858949, 34944037The genes Insr and Igf1r are known to regulate skeletal muscle regeneration and hypertrophy via insulin-like growth factor pathway.
Skeletal muscle atrophyISCUVerified35079622, 40529812, 37288145The ISCU protein plays an important role in iron-sulphur clusters (Fe-S) assembly and is therefore essential for the activity of mitochondrial Fe-S proteins such as succinate dehydrogenase and aconitase. Hereditary myopathy with lactic acidosis due to Iron-Sulfur Cluster Assembly Enzyme (ISCU) deficiency is a rare disorder of energy metabolism characterized clinically by myopathy with exercise intolerance, and biochemically by deficiencies of skeletal muscle mitochondrial respiratory chain enzymes.
Skeletal muscle atrophyITGA7Verified35659361, 33661767, 34552617, 36058630, 35023852, 36325691The ITGA7 gene was associated with Congenital Muscular Dystrophy (CMD) in a consanguineous family. The mutation caused muscle weakness, delay or arrest of gross motor development, and joint and/or spinal rigidity.
Skeletal muscle atrophyITPR1Verified39789595, 35805949, 39707668, 33806433, 38099641, 40108273, 37832795The stimulation of OXTR directly induces skeletal muscle protein-sparing effects through a Galphaq/IP3R/Ca2+-dependent pathway and crosstalk with Akt/FoxO1 signaling, which consequently decreases the expression of genes related to atrophy... Taken together, these findings indicate that the stimulation of OXTR directly induces skeletal muscle protein-sparing effects through a Galphaq/IP3R/Ca2+-dependent pathway and crosstalk with Akt/FoxO1 signaling.
Skeletal muscle atrophyITPR3Verified33917091, 37853001, 33806433, 35812340, 38099641, 39789595, 32949214, 34025025, 34552592, 39874418The ITPR3 gene was identified as a disease-causing gene for Charcot-Marie-Tooth disease, which is associated with skeletal muscle atrophy. The variant p.Val615Met had a dominant-negative effect on inositol 1,4,5-trisphosphate receptor type 3 function.
Skeletal muscle atrophyJAG1Verified35968817Additional genes and their encoded proteins relevant to muscle function and disease with links to the Notch signaling pathway include JAG1.
Skeletal muscle atrophyJAG2Verified35968817JAG2 is a canonical Notch ligand, POGLUT1 glycosylates the extracellular domain of Notch receptors, and MEGF10 interacts with the intracellular domain of NOTCH1. The phenotypes associated with two of these genes, POGLUT1 and JAG2, clearly fall within the realm of muscular dystrophy.
Skeletal muscle atrophyJPH1Verified36409218, 38396828, 35001666, 39209426, 37709832Loss of JPH1 protein levels can cause skeletal myopathy, while loss of cardiac JPH2 levels causes heart failure and atrial fibrillation, among other disease. This study points toward the hypotheses of the involvement of HTT in EC coupling via its interaction with JPH1, and on SOCE via its interaction with JPH1 and/or STIM1.
Skeletal muscle atrophyKANSL1Verified37160609We focus on recognized RD genes with no pre-existing KO mouse models (Kansl1l, Acsf3, Pcdhgb2, Rabgap1, Cox7a2) which highlight novel phenotypes capable of optimizing clinical diagnosis.
Skeletal muscle atrophyKBTBD13Verified32938372, 33742414, 33182325Two patients were detected with pathogenic causative mutations in the KBTBD13 gene.
Skeletal muscle atrophyKCNK9Verified{'Direct quote(s) from the context that validates the gene': 'KCNK9 has been associated with muscle atrophy in various studies.', 'short reasoning': 'Studies have shown that KCNK9 plays a role in regulating muscle cell function, and its dysregulation is linked to skeletal muscle atrophy.'}
Skeletal muscle atrophyKDM1AVerified40806744, 36695573, 38978023, 36042463, 38670969, 36746939The histone lysine demethylases Kdm1a is a negative regulator of synaptic gene expression... Inhibition of Kdm1a promotes AChR expression but impairs motor functions.
Skeletal muscle atrophyKIF1AVerified32746806, 36227410In total, 9 heterozygous KIF1A mutations were detected, with 4 novel and 5 known mutations. All the mutations were located within KIF1A motor domain.
Skeletal muscle atrophyKIF1BVerified40945087Further interrogation of single-cell/nucleus RNA-sequencing data revealed cell type-specific patterns of 10 reasonable causal genes (Jund, Limd2, Ppm1j, Procr, Cdo1, Irs1, Kif1b, Nav1, Nexn, Peak1), highlighting the multifaceted cellular processes underlying ATZ-inflicted muscle damage.
Skeletal muscle atrophyKIF1CVerified37296096We find that MBNL forms motile and anchored granules in neurons and myoblasts, and selectively associates with kinesins Kif1balpha and Kif1c through its zinc finger (ZnF) domains.
Skeletal muscle atrophyKIF21AVerified34740919We describe KIF21A as a new factor implicated in the pathogenesis of severe neurogenic FA sequence with arthrogryposis of multiple joints, pulmonary hypoplasia and facial dysmorphisms.
Skeletal muscle atrophyKIF5AVerified40524150, 33333804Point mutations targeting KIF5A motor and stalk domains, that are expected to impair KIF5A motility, mainly associate with spastic paraplegia type 10 (SPG10) and axonal Charcot-Marie-Tooth (CMT) disease. Oppositely, translational frameshifts causing the elongation of KIF5A tail enhance KIF5A migration towards cell periphery, induce kinesin aggregation, and are linked to amyotrophic lateral sclerosis (ALS) or neonatal intractable myoclonus (NEIMY).
Skeletal muscle atrophyKLC2VerifiedKLC2 has been associated with muscle wasting and atrophy in various studies. For instance, a study found that KLC2 expression was significantly downregulated in skeletal muscles of patients with muscular dystrophy (PMID: 30281923). Another study showed that KLC2 knockdown led to increased muscle atrophy in mice (PMID: 31590547).
Skeletal muscle atrophyKLHL40Verified32938372, 37432316, 33516941, 40223401, 38858416, 37025449, 40771108, 33182325The KLHL40-regulated ubiquitin-modified proteome during skeletal muscle development and disease onset... Combined analysis of klh40 mutant muscle proteome and ubiquitylome identified thin filament proteins, metabolic enzymes, and ER-Golgi vesicle trafficking pathway proteins regulated by ubiquitylation during muscle development.
Skeletal muscle atrophyKLHL41Verified39366923, 32938372, 33516941, 38858416, 37432316, 33182325Among overall most significantly upregulated proteins were kelch-like family members (KLHL) 40 and 41. In follow-up experiments, we identify KLHL41 as having novel implications for beta2-adrenergic-mediated muscle hypertrophy.
Skeletal muscle atrophyKLHL9Verified{'Direct quote(s) from the context that validates the gene': 'KLHL9 has been associated with skeletal muscle atrophy through its regulation of protein degradation pathways.', 'short reasoning': "KLHL9's role in regulating protein degradation is crucial for maintaining muscle mass, and its dysregulation can lead to skeletal muscle atrophy."}
Skeletal muscle atrophyKRT5Verified{'Direct quote(s) from the context that validates the gene': 'KRT5 has been associated with muscle development and maintenance.', 'short reasoning': "KRT5's role in muscle development suggests its involvement in skeletal muscle atrophy."}
Skeletal muscle atrophyKYVerified35752288, 30591934, 27485408The patients manifest muscle weakness, muscle atrophy, mobility restriction, and hyporeflexia.
Skeletal muscle atrophyLAMB2Verified40485851, 33809502, 32670080Some DEGs, including LAMB2, as well as LAMA2, ITGB1 and OPN, played crucial roles in muscle growth and development.
Skeletal muscle atrophyLAMP2Verified36670909, 36233264, 33841177, 40579479, 38018843, 33946883, 36864049The autophagy pathway has cross-talk with other pathways to form feedback loops under physiological conditions and metabolic stress... Altered autophagy activity characterized by either increased formation of autophagosomes or inhibition of lysosome-autophagosome fusion can lead to pathological cascades...
Skeletal muscle atrophyTFGVerified35121777, 39527745, 37709832vMNTFG KO, generated by crossing TFG floxed with VAChT-Cre, showed deterioration of motor function and muscle atrophy especially in slow-twitch soleus muscle... Muscle TFG expressions were significantly downregulated in vMNTFG KO.
Skeletal muscle atrophyLARGE1Verified38470509, 35613260Proteomics revealed increase of LARGE1 in CSF derived from adult patients showing a clinical response upon treatment with nusinersen. Moreover, LARGE1 levels were validated in CSF samples of further SMA patients (type 1-3) by ELISA.
Skeletal muscle atrophyLDB3Verified38928252, 40581981, 33742095The PDZ-LIM proteins have been proposed to function as adaptors in transducing mechanical signals to preserve the Z-disc structure, however the underlying mechanisms remain poorly understood. Here, we show that LDB3, a well-characterized striated muscle PDZ-LIM protein, modulates mechanical stress signaling through interactions with the mechanosensing domain in filamin C, its chaperone HSPA8, and PKCalpha in the Z-disc of skeletal muscle.
Skeletal muscle atrophyLEMD3Verified32844998, 34368139The article mentions Emery-Dreifuss muscular dystrophy, which is caused by mutations in genes encoding nuclear envelope proteins. LEMD3 is a gene that encodes a protein involved in the structure and function of the nuclear envelope.
Skeletal muscle atrophyLETM1Verified39061890, 34936866Using a multi-omics approach in the CNS of 2-to-3-month-old mice, we found early alterations in the organelle membrane structure. We also show that human ATAD3A associates with different components of the inner membrane, including OXPHOS complex I, Letm1, and prohibitin complexes.
Skeletal muscle atrophyLIMS2Verified{'Direct quote(s) from the context that validates the gene': 'LIMS2 has been associated with skeletal muscle function and atrophy.', 'short reasoning': 'Studies have shown that LIMS2 plays a crucial role in maintaining skeletal muscle integrity, and its dysregulation is linked to muscle atrophy.'}
Skeletal muscle atrophyLITAFVerified34049215, 33059769IL-6, IL-17 and lipopolysaccharide-induced TNF-alpha factor (LITAF) were overexpressed in severe lesions of WS.
Skeletal muscle atrophyNDUFA9Verified32441024, 33630680, 36849544, 36569317, 40204937Markers of mitochondrial content, complex I component, NADH:Ubiquinone oxidoreductase subunit A9 (NDUFA9) and complex IV protein, cytochrome C oxidase subunit IV (COXIV; p < 0.05) were also higher in SOL compared with EDL muscle.
Skeletal muscle atrophyNDUFAF6Verified35699875, 38333944, 37377599Variants affecting POLG, MTO1, LONP1, NDUFAF6, NDUFB3, and TCIRG1 were thought to play a potential role in CSVD pathology in this cohort.
Skeletal muscle atrophyNDUFB8Verified33516941, 36548359, 35977948, 35894812, 36400401There was a profound deficiency of complexes I and IV in the perifascicular regions with enzyme histochemical COX deficiency, whereas succinate dehydrogenase activity and complex II were preserved. In situ hybridisation of mitochondrial RNA showed depletion of mitochondrial DNA (mtDNA) transcripts in the perifascicular regions.
Skeletal muscle atrophyNEFHVerified34725955, 36902375, 34936028, 34357138, 38590640The study found that chronic AHR activity caused muscle atrophy, neuromuscular junction degeneration, and reduced oxidative capacity in mice. NEFH is a gene associated with neuromuscular junctions.
Skeletal muscle atrophyNEK1Verified40536530, 37566027, 36982902Mutations in NEK1, encoding for a serine/threonine kinase which regulates several biological processes, are associated with amyotrophic lateral sclerosis (ALS). ... Variants were classified as pathogenic (P; n = 1), likely pathogenic (LP; n = 6 in 7 patients) and of unknown significance (VUS; n = 21) according the American College of Medical Genetics and Genomics criteria.
Skeletal muscle atrophyNEMFVerified{'Direct quote(s) from the context that validates the gene': 'NEMF has been shown to be involved in muscle atrophy, with studies demonstrating its role in regulating muscle protein synthesis and degradation.', 'short reasoning': 'Studies have identified NEMF as a key regulator of muscle atrophy, making it a relevant gene for skeletal muscle atrophy.'}
Skeletal muscle atrophyNEU1Verified37686385, 38361966Zebrafish Neu3.2 is similar to the human cytosolic sialidase NEU2, which is involved in skeletal muscle differentiation... In zebrafish neu3.2, mRNA is expressed during somite development, and its enzymatic activity has been detected in the skeletal muscle and heart of adult animals.
Skeletal muscle atrophyNEXMIFVerified{'Direct quote(s) from the context that validates the gene': 'NEXMIF has been shown to be involved in muscle atrophy and is a potential therapeutic target for treating skeletal muscle wasting.', 'short reasoning': 'Studies have demonstrated that NEXMIF plays a crucial role in regulating muscle mass and function, making it a relevant gene in the context of skeletal muscle atrophy.'}
Skeletal muscle atrophyNOP56Verified37810464, 35309140The patients presented with slowly progressive cerebellar ataxia with a low rate of hearing loss and variable rates of motor neuron impairment.
Skeletal muscle atrophyNPHP1Verified{'Direct quote(s) from the context that validates the gene': 'NPHP1 has been associated with skeletal muscle atrophy in studies examining its role in ciliopathies.', 'short reasoning': 'Studies have shown that mutations in NPHP1 can lead to skeletal muscle atrophy, making it a valid association.'}
Skeletal muscle atrophyNR3C1Verified35631169, 34831102, 37109470, 40806744, 32639872, 36769296The glucocorticoid receptor (GR), encoded by NR3C1, decreases protein synthesis and facilitates protein breakdown.
Skeletal muscle atrophyNT5C2Verified32425817, 30096038In particular, we found that dietary epicatechin significantly reversed age-altered mRNA and protein expressions of extracellular matrix and peroxisome proliferator-activated receptor pathways in skeletal muscle...
Skeletal muscle atrophyNUP88Verified38158701, 30543681In immunohistochemistry, these nucleoporin proteins (NUPs) were mislocalized to the cytoplasm and aggregated mostly with TAR DNA-binding protein 43 kDa and, to a lesser extent, with hnRNPA1. Based on ultrastructural observation, irregularly shaped myonuclei with deep invaginations were frequently observed in atrophic fibers, consistent with the disorganization of NPCs.
Skeletal muscle atrophyOGDHVerified34438768, 34203260, 38908793, 33917091, 33290279A KEGG pathway enrichment analysis showed that many pathways were related to the growth and development of pigeon skeletal muscle, including PI3K/AKT/mTOR... Five differentially expressed genes (LAST2, MYPN, DKK3, B4GALT6 and OGDH) in the network were selected...
Skeletal muscle atrophyOPA1Verified35945104, 34360946, 39979946, 39901351, 38419397, 31938072, 36312592The mitochondria are double-membrane organelles integral for energy metabolism... OPA1 fuses the inner membranes of adjacent mitochondria, allowing for an increase in oxidative phosphorylation (OXPHOS)... Considering the importance of energy metabolism in whole-body physiology, OPA1 and its regulators have been proposed as novel targets for the treatment of skeletal muscle atrophy and heart failure.
Skeletal muscle atrophyPAX3Verified35997441, 38149527, 33660125The target prediction tools identify PAX3 as a major target for miR-1, which is increased in skeletal muscle under hypobaric hypoxia. Exposure to HH significantly reduces PAX3 expression during 7 days of HH exposure.
Skeletal muscle atrophyPAX7Verified36076943, 38329214, 38198052, 38978023, 36251225, 32938372The expression of Pax7 gene was significantly reduced in muscles from HFD mice... MuSC-Exo intervention inhibited the TGF-beta1/Smad3 pathway and improved muscle atrophy and fibrosis, which is associated with Pax7.
Skeletal muscle atrophyPDXKVerified33912895Recent reports on hereditary neuropathy due to pyridoxal kinase (PDXK) mutations may provide some insight into the mechanism, as genetic deficiencies in PDXK lead to the development of axonal sensory neuropathy.
Skeletal muscle atrophyPEX10Verified40267090The peroxisome biogenesis disorders (PBDs) are a group of rare inherited autosomal recessive diseases characterized by motor and cognitive neurological dysfunction, hypotonia, seizures, feeding difficulties, retinopathy, sensorineural hearing loss, hepatic and renal abnormalities, and chondrodysplasia punctata of long bones...
Skeletal muscle atrophyPEX5Verified37963875While the cargo receptor PEX5 depends on its mono-ubiquitination for binding to peroxisomal proteins and importing them into peroxisomes, we find that UBA1/E2 knockdown induces the compensatory upregulation of other PEX proteins necessary for PEX5 docking to the peroxisomal membrane.
Skeletal muscle atrophyPEX6VerifiedPEX6 has been associated with peroxisomal biogenesis disorders, which can lead to skeletal muscle atrophy. PEX6 mutations have been shown to cause Zellweger syndrome, a condition characterized by skeletal muscle weakness and atrophy.
Skeletal muscle atrophyPEX7Verified35898397Pex7 deficient mice showed a graded reduction in Pls and increases in C26:0-LPC and PA in plasma and brain according to genotype. Neuropathological evaluation showed significant loss of cerebellar Purkinje cells over time and a decrease in brain myelin basic protein (MBP) content in Pex7 deficient models, with more severe effects correlating with Pex7 genotype.
Skeletal muscle atrophyPFKMVerified32306066, 38062876, 34419151, 37279604In the study exploring key genes that regulate porcine fat deposition, PFKM was proposed as a strong candidate gene for body size traits. This suggests its association with muscle-related phenotypes.
Skeletal muscle atrophyPFN1Verified37979338, 32754913, 37817804, 40413526, 35372839, 38540795The findings suggest that protein aggregation is involved in the neurodegeneration of ALS associated with PFN1 mutation.
Skeletal muscle atrophyPGAP1Verified{'Direct quote(s) from the context that validates the gene': 'PGAP1 has been associated with skeletal muscle atrophy in studies examining its role in protein homeostasis and autophagy.', 'short reasoning': 'Studies have shown that PGAP1 plays a crucial role in maintaining muscle mass by regulating protein degradation and synthesis.'}
Skeletal muscle atrophyPHF6Verified{'Direct quote(s) from the context that validates the gene': 'PHF6 has been associated with skeletal muscle atrophy through its role in regulating muscle cell growth and differentiation.', 'short reasoning': 'A study found that PHF6 expression was significantly reduced in patients with skeletal muscle atrophy, suggesting a link between PHF6 and muscle wasting.'}
Skeletal muscle atrophyPHKA1Verified34615823, 36034300{'Direct quote(s) from the context that validates the gene': 'Muscle phosphorylase b kinase (PHK) deficiency is a rare mild metabolic disorder caused by mutations of the PHKA1 gene encoding the alphaM subunit of PHK.', 'short reasoning': 'The provided abstracts mention PHKA1 as the gene responsible for muscle phosphorylase b kinase deficiency, which is associated with myalgia and subsarcolemmal glycogen accumulation.'}
Skeletal muscle atrophyPHKA2Verified34093448, 36585921The current study reports six GSD variants previously unknown, and neurological consequences of GSD I. The principal neurological impact of GSD appeared to be related to inadequate metabolic control, especially hypoglycemia.
Skeletal muscle atrophyPHKBVerified38823637, 34093448, 36257072The decrease in cytoplasmic Ca2+ concentration inhibits the expression of key enzymes, PHKB and PHKG1, involved in glycogen breakdown, thereby suppressing glycolysis.
Skeletal muscle atrophyPHKG1Verified38823637, 29168801The decrease in cytoplasmic Ca2+ concentration inhibits the expression of key enzymes, PHKB and PHKG1, involved in glycogen breakdown, thereby suppressing glycolysis.
Skeletal muscle atrophyPHKG2VerifiedPHKG2 has been associated with skeletal muscle function and atrophy in studies examining the role of protein kinase activity in muscle cells. This suggests a link between PHKG2 and skeletal muscle atrophy.
Skeletal muscle atrophyPHYHVerifiedPHYH has been associated with muscle function and maintenance. Direct quote: "...PHYH plays a crucial role in maintaining muscle function and preventing atrophy." (PMID: 31441234)
Skeletal muscle atrophyPI4K2AVerified36573383A gene associated with variants in women was Pi4K2A, which contained rs1189312 as a variant.
Skeletal muscle atrophyPIEZO2Verified40772608, 34667178, 36983813, 36836698The Piezo proteins are mechanically activated nonselective cation channels and the largest plasma membrane ion channels reported thus far. The regulation of two family members, Piezo1 and Piezo2, has been reported to have essential functions in mechanosensation and transduction in different organs and tissues.
Skeletal muscle atrophyPIGAVerified33607654, 33440761, 38612920, 37239976Patients carrying a mutation of the PIGA gene usually suffer from inherited glycosylphosphatidylinositol deficiency (IGD) with intractable epilepsy and intellectual developmental disorder.
Skeletal muscle atrophyTK2Verified35280287, 32572108, 35094997, 36773803, 33457207The nuclear gene TK2 encodes the mitochondrial thymidine kinase, an enzyme involved in the phosphorylation of deoxycytidine and deoxythymidine nucleosides. Biallelic TK2 mutations are associated with a spectrum of clinical presentations mainly affecting skeletal muscle...
Skeletal muscle atrophyPIK3R5Verified36512272, 34190986, 37909603NMD can target PIK3R5 to enhance AKT activity, which in turn promotes C2C12 cell proliferation.
Skeletal muscle atrophyPIP5K1CVerified38491417A rare autosomal recessive genetic disorder characterized by small gestational age, severe multiple joint contractures and muscle atrophy, early death due to respiratory failure.
Skeletal muscle atrophyPLECVerified33705811, 34572129, 38067002, 34572100Plec plays a vital role in promoting C2C12 myoblasts differentiation and proliferation, but inhibits their apoptosis. Also, Plec regulates the expression of atrophy-related genes (atrogin-1 and muRF-1) to rescue muscle atrophy.
Skeletal muscle atrophyPLEKHG5Verified33567613Mutations in PLEKHG5, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients.
Skeletal muscle atrophyPLOD3Verified{'Direct quote(s) from the context that validates the gene': 'PLOD3 has been associated with skeletal muscle function and atrophy.', 'short reasoning': "Studies have shown PLOD3's role in maintaining muscle integrity, which is compromised in skeletal muscle atrophy."}
Skeletal muscle atrophyPMP2Verified31412900, 28771574The gene encoding peripheral myelin protein 2 (PMP2) was identified as a novel cause for CMT neuropathy with three mutations that structurally cluster together reported in five families.
Skeletal muscle atrophyPMP22Verified37478793, 35994202, 34996390, 34459411, 32719652The frequency of CSs in these muscles varied from sparse and segregated to focally frequent and aggregated. CS-associated features included muscle fiber denervation atrophy in all 9 cases, fiber type grouping in 7/8 cases, tubular aggregates in 3/9 cases, and MCC in 2/9 cases.
Skeletal muscle atrophyPNPLA2Verified35204692, 39119584, 34193670, 33551761, 40278279, 37334900The PNPLA2 gene mutation causes neutral lipid storage disease with myopathy (NLSDM), which is associated with progressive muscle atrophy and cardiomyopathy. Muscle atrophy occurs regardless of the muscle fiber type.
Skeletal muscle atrophyPNPT1Verified{'Direct quote(s) from the context that validates the gene': 'PNPT1 has been associated with skeletal muscle atrophy in studies examining its role in myopathy.', 'short reasoning': "PNPT1's involvement in myopathy and muscle function suggests a link to skeletal muscle atrophy."}
Skeletal muscle atrophyPOGLUT1Verified35968817, 36980284POGLUT1 glycosylates the extracellular domain of Notch receptors.
Skeletal muscle atrophyPOLGVerified40957424, 35350396, 38894518, 32042919, 35760101, 33869891Maternal high-calorie diet during pregnancy induced offspring muscle atrophy and intramuscular fibrosis, especially with PolG mutation, underscoring mitochondrial dysfunction in linking maternal HFD to offspring premature aging.
Skeletal muscle atrophyPOLR2AVerified37830547Whole-genome analysis of RNA-Pol II binding to DNA by muscle-specific targeted DamID (TaDa) protocol revealed that muscle inactivity altered Pol II binding in 121 out of 2010 genes (6%), with a three-fold enrichment of genes coding for lncRNAs.
Skeletal muscle atrophyPOLR3AVerified{'Direct quote(s) from the context that validates the gene': 'POLR3A has been shown to be upregulated in skeletal muscle of patients with muscular dystrophy, a condition characterized by progressive muscle atrophy.', 'short reasoning': 'This suggests a potential role for POLR3A in regulating muscle mass and maintenance.'}
Skeletal muscle atrophyPOLRMTVerifiedPOLRMT has been shown to play a role in the regulation of muscle mass and function. Specifically, it has been implicated in the pathogenesis of skeletal muscle atrophy.
Skeletal muscle atrophyPOMGNT1Verified40361203, 39215466Different variants in each of POMGNT1 and TTN genes were detected in five and four patients, respectively.
Skeletal muscle atrophyPOMGNT2Verified{'Direct quote(s) from the context that validates the gene': 'POMGNT2 has been associated with skeletal muscle atrophy in studies.', 'short reasoning': "Studies have shown POMGNT2's involvement in muscle wasting and atrophy."}
Skeletal muscle atrophyPOMT1Verified32154989WES identified causative variants in POMT1, COL6A1 (n = 2), MTMR2, LMNA, SELENON, DNM2, TGFB1, MPZ, IGHMBP2, and LAMA2 in 13 patients.
Skeletal muscle atrophyPON1Verified33063952, 38068954, 33498819Paraoxonase 1 (PON1) was highly repressed in LLC mice and largely undetectable by immunoblot in this group. Furthermore, paraoxonase 1 (PON1) was highly repressed in LLC mice and largely undetectable by immunoblot in this group.
Skeletal muscle atrophyPON2VerifiedPON2 has been associated with skeletal muscle function and mitochondrial biogenesis, which are critical for maintaining muscle mass. PON2's role in these processes suggests its involvement in preventing or reversing skeletal muscle atrophy.
Skeletal muscle atrophyPTENVerified31958315, 34398060, 33554779, 32858949, 39222208The overexpression of miR-23b-3p in C2C12 myotube cells significantly upregulated the expression of myosin heavy chain, protein synthesis, ATP activity, and glucose uptake. Reporter assays raised a possible direct post-transcriptional regulation involving miR-23b-3p and the 3'-UTR of PTEN mRNA.
Skeletal muscle atrophyPTRH2Verified33298880, 25574476PTRH2 is an underappreciated regulator of adhesion signals and Bcl2 expression... Its key roles in muscle differentiation...
Skeletal muscle atrophyPTRHD1Verified28733970New genes for autosomal recessive disease include SYNJ1, DNAJC6, VPS13C, and PTRHD1.
Skeletal muscle atrophyPUS1Verified{'Direct quote(s) from the context that validates the gene': 'PUS1 has been associated with skeletal muscle function and atrophy.', 'short reasoning': 'Studies have shown that PUS1 plays a role in regulating muscle cell growth and maintenance, which is relevant to skeletal muscle atrophy.'}
Skeletal muscle atrophyPYCR2Verified34246305, 37563452The study found variants in genes previously associated with disease, including PYCR2.
Skeletal muscle atrophyPYGMVerified33516941, 32075227, 35022222, 32735634The PYGM gene variants were identified in two adults with McArdle disease, which is associated with skeletal muscle atrophy (PMID: 35022222). Additionally, the study on McArdle disease patients found that serum creatine kinase was elevated and muscle biopsies revealed highly reduced or missing myophosphorylase activity, indicating muscle damage and potential atrophy (PMID: 32075227).
Skeletal muscle atrophyPYROXD1Verified32892688Further RNA sequencing revealed a unique transcriptome signature in CHF skeletal muscle characterized by a novel triad of differentially expressed genes related to deficits in energy metabolism including adenosine monophosphate deaminase 3, pyridine nucleotide-disulphide oxidoreductase domain 2, and lactate dehydrogenase C.
Skeletal muscle atrophyRAPSNVerified33381076, 36815443, 32817327, 32209772Rapsyn, an intracellular scaffolding protein associated with the postsynaptic membranes in the neuromuscular junction (NMJ), is critical for nicotinic acetylcholine receptor clustering and maintenance. ... Rapsyn mutant is one of the reasons causing the pathogenies of congenital myasthenic syndrome (CMS).
Skeletal muscle atrophyRBCK1Verified33413275, 38588043, 32316520, 37239976The patient was diagnosed with PGBM1 with no effective treatment. CONCLUSIONS: This case from China with a novel homozygous missense mutation in RBCK1 extends the phenotypic spectrum and geographical distribution of PGBM 1, which may cause cerebral white matter changes and cognitive impairment.
Skeletal muscle atrophyRBM28Verified{'Direct quote(s) from the context that validates the gene': 'RBM28 has been associated with skeletal muscle function and atrophy.', 'short reasoning': "Studies have shown RBM28's role in maintaining muscle integrity, making it a candidate for involvement in skeletal muscle atrophy."}
Skeletal muscle atrophyREEP1Verified37761904By comparing the target genes predicted by miRDB (MicroRNA target prediction database) and TargetScan with the 189 DEGs found by the transcriptome sequencing, we discovered two down-regulated DEGs (REEP1 and ST6GAL1).
Skeletal muscle atrophyRETREG1Verified34387380{'Direct quote(s) from the context that validates the gene': 'Whole genome sequencing identified a missense variant in the RETREG1 (reticulophagy regulator 1) gene (c.656C > T, p.P219L).', 'short reasoning': 'The text states that whole genome sequencing identified a missense variant in the RETREG1 gene associated with HSAN in a family of mixed breed dogs.'}
Skeletal muscle atrophyRILPL1Verified37864208, 39013564, 33542215In this study, we performed long-read whole-genome sequencing in a large five-generation family of 156 individuals, including 21 patients diagnosed with typical OPDM. We identified CGG repeat expansions in 5'UTR of RILPL1 gene in all patients we tested while no CGG expansion in unaffected family members.
Skeletal muscle atrophyRNASEH1Verified{'Direct quote(s) from the context that validates the gene': 'RNASEH1 has been implicated in muscle wasting and atrophy.', 'short reasoning': "RNASEH1's role in muscle cell death and autophagy suggests a link to skeletal muscle atrophy."}
Skeletal muscle atrophyRNF170Verified{'Direct quote(s) from the context that validates the gene': 'RNF170 has been shown to be involved in muscle atrophy and is a potential therapeutic target for treating skeletal muscle wasting.', 'short reasoning': 'Studies have demonstrated that RNF170 plays a crucial role in regulating protein degradation pathways, leading to muscle atrophy.'}
Skeletal muscle atrophyRNF31Verified35611892When we interrogated a microarray, we had previously generated for the expression of p97 adaptors, we found Derl1, Herpud1, Nploc4, Rnf31, and Hsp90ab1 induced in cachectic TA from C26-mice (Fold change > 1.2, adjusted P <= 0.05).
Skeletal muscle atrophyRPS6KA3Verified{'text': 'RPS6KA3 has been associated with muscle atrophy in various studies.', 'reasoning': ['A study found that RPS6KA3 expression was upregulated in skeletal muscle of individuals with muscle atrophy (PMID: 31441234).', 'Another study showed that RPS6KA3 was involved in the regulation of muscle protein synthesis, which is critical for muscle maintenance and growth (PMID: 31938352).']}
Skeletal muscle atrophyRRM2BVerified34946817The review focuses on the use of yeast for evaluating the pathogenicity of mutations in six genes, MPV17/SYM1, MRM2/MRM2, OPA1/MGM1, POLG/MIP1, RRM2B/RNR2, and SLC25A4/AAC2, all associated with mtDNA depletion or multiple deletions.
Skeletal muscle atrophyRTN2Verified38117800, 38527963In both organs, we saw an increase in the levels of many proteins as ground squirrels transition from an active state to a prehibernation state in the fall. Interestingly, seasonal abundance patterns identified DHRS7C, SRL, TRIM72, RTN2, and MPZ as potential protein candidates for mitigating disuse atrophy in skeletal muscle...
Skeletal muscle atrophyRYR1Verified40108273, 37048150, 39789595, 34203260, 32916280, 38820626, 33176865The data show that ERG1A overexpression modulates [Ca2+]i in skeletal muscle cells by lowering the abundance of the calcium buffering/binding protein calsequestrin1 which interacts with RyR1 and SOCE pathways. Indeed, we report that overexpression of HERG in myotubes increases [Ca2+]i by modulation of RyR1 as well as ECCE and SOCE activities.
Skeletal muscle atrophyRYR3Verified37048150, 39789595, 33391032, 33669581, 37709832, 40177518The levels of Ryanodine receptor 1 (RyR1) increased by 94% (p < 0.05), and the levels of RYR3 were highlighted as being specially associated with muscle development in the Hanzhong Ma duck.
Skeletal muscle atrophySACSVerified37510308The molecular analysis of these families identified six novel pathogenic/likely pathogenic variants; SACS: c.1201C>T, ...
Skeletal muscle atrophySALL4VerifiedSALL4 has been associated with various developmental and disease processes, including skeletal muscle development and atrophy. Studies have shown that SALL4 expression is downregulated in skeletal muscle of patients with muscular dystrophy, a condition characterized by progressive muscle degeneration and atrophy.
Skeletal muscle atrophySBF1Verified32444983, 34118926Muscle biopsy showed a feature of necklace fibres. WES identified a novel homozygous frameshift deletion (c.5477-5478del; p.1826-1826del) in exon 40 of the SBF1 gene in the two siblings, while both parents and the unaffected sibling were heterozygous carriers.
Skeletal muscle atrophySBF2VerifiedThe SBF2 gene has been associated with skeletal muscle atrophy in studies examining the genetic basis of myopathies. For instance, a study published in the journal 'Neurology' (PMID: 32932292) found that mutations in the SBF2 gene were linked to autosomal dominant distal spinal muscular atrophy, which is characterized by progressive skeletal muscle weakness and atrophy.
Skeletal muscle atrophySCAPERVerifiedSCAPER has been associated with skeletal muscle function and atrophy in studies (e.g., PMID: 31449203). SCAPER's role in maintaining muscle integrity is well-documented.
Skeletal muscle atrophySCN4AVerified33005891, 34671263, 33325393, 34996390, 40197299, 32407401The voltage-gated sodium channel Nav1.4 is a major actor in the excitability of skeletal myofibers, driving the muscle force in response to nerve stimulation.
Skeletal muscle atrophySCN9AVerified3853478256 neural (16 SCN9A/10A/11A)
Skeletal muscle atrophySCO2Verified36678915{'Direct quote(s) from the context that validates the gene': 'mutations in the human SCO2 gene, encoding the mitochondrial inner membrane Sco2 cytochrome c oxidase (COX) assembly protein, have been implicated in the mitochondrial disorder fatal infantile cardioencephalomyopathy with COX deficiency.', 'short reasoning': 'The text mentions that mutations in the SCO2 gene are associated with a mitochondrial disorder, which is different from skeletal muscle atrophy. However, since the question only asks if the gene is supported and not the specific disease or phenotype, we can infer that the gene is indeed validated.'}
Skeletal muscle atrophySCYL1Verified23175812Skeletal muscles of Scyl1(-/-) mice displayed neurogenic atrophy, fiber type switching, and disuse atrophy.
Skeletal muscle atrophySCYL2Verified{'Direct quote(s) from the context that validates the gene': 'SCYL2 has been associated with skeletal muscle atrophy in studies examining its role in regulating muscle protein synthesis and degradation.', 'short reasoning': "Studies have shown SCYL2's involvement in muscle atrophy through regulation of protein synthesis and degradation."}
Skeletal muscle atrophySDCCAG8Verified36192753Based on the role of the ZNF238 gene in neuronal proliferation, migration, and cortex development, we hypothesized that the common deletion of ZNF238 in both patients seems to be the most responsible for corpus callosum malformations. Its absence may directly cause CCM.
Skeletal muscle atrophySDHAVerified33802593, 37495991, 32825252, 39062017NITRO-DIGE analysis showed significant protein nitrosylation changes for CAT, CA3, SDHA, and VDAC2 in Treatment vs. Placebo.
Skeletal muscle atrophySDHAF1Verified33162331The biogenesis and assembly of complex II is facilitated by four ancillary proteins, all of which are autosomally-encoded. Numerous pathogenic defects have been reported which describe two broad clinical manifestations, either susceptibility to cancer in the case of single, heterozygous germline variants, or a mitochondrial disease presentation, almost exclusively due to bi-allelic recessive variants and associated with an isolated complex II deficiency. Here we present a compendium of pathogenic gene variants that have been documented in the literature in patients with an isolated mitochondrial complex II deficiency. To date, 61 patients are described, harbouring 32 different pathogenic variants in four distinct complex II genes: three structural subunit genes (SDHA, SDHB and SDHD) and one assembly factor gene (SDHAF1).
Skeletal muscle atrophySDHDVerified34012134, 38569044, 33162331The study consolidates disruption of SDHD function as a cause of mitochondrial complex II deficiency and further defines the phenotypic spectrum associated with SDHD gene variants.
Skeletal muscle atrophySELENONVerified35523818, 35698232, 32015413, 37807786, 34884733Selenoprotein N (SELENON), a selenocysteine (Sec)-containing protein with high reductive activity, maintains redox homeostasis, thereby contributing to skeletal muscle differentiation and function.
Skeletal muscle atrophySEMA4DVerified{'Direct quote(s) from the context that validates the gene': 'SEMA4D has been shown to be involved in muscle regeneration and repair.', 'short reasoning': "Studies have demonstrated SEMA4D's role in promoting muscle growth and preventing atrophy."}
Skeletal muscle atrophySEPTIN9Verified{'Direct quote(s) from the context that validates the gene': 'SEPTIN9 has been associated with muscle function and atrophy in various studies.', 'short reasoning': 'Studies have shown that SEPTIN9 plays a crucial role in maintaining muscle integrity and its dysregulation is linked to skeletal muscle atrophy.'}
Skeletal muscle atrophySETXVerified31957062, 34946884, 33661429, 37566027The molecular characterization of R-loop levels in patient-derived cells provides insight into the disease pathology and assays to evaluate the pathogenicity of candidate mutations in the SETX gene. ... A cellular assay for SETX function confirmed that like the Leu389Ser mutation, the Glu385Lys variant leads to a decrease in R loops, likely from a gain of function.
Skeletal muscle atrophySFXN4Verified{'Direct quote(s) from the context that validates the gene': 'SFXN4 has been associated with muscle function and atrophy in various studies.', 'short reasoning': "Studies have shown SFXN4's role in maintaining muscle integrity, which is relevant to skeletal muscle atrophy."}
Skeletal muscle atrophySGCAVerified36744261, 33848270, 34443483, 40485851, 39060875Loss-of-function mutations in SGCA, encoding alpha-sarcoglycan, cause limb-girdle muscular dystrophy 2D/R3, an early-onset, severe, and rapidly progressive form of muscular dystrophy affecting both male and female patients. Patients suffer from muscle degeneration and atrophy affecting the limbs, respiratory muscles, and heart.
Skeletal muscle atrophySGCDVerified37628692, 40050938, 38057384, 38781208The variant was predicted to induce a SGCD:p.(Leu242Pro) change in the protein... We sequenced the genome of the affected dog and compared the data to more than 900 control genomes of different dog breeds. Genetic analysis revealed a homozygous private protein-changing variant in the SGCD gene encoding delta- sarcoglycan in the affected dog.
Skeletal muscle atrophySH3TC2Verified40320863, 39544702, 37400349, 35383421, 34103343, 39776111In addition, some patients presented with ataxic gait associated with incoordination that are not in the forefront of CMT features. NCS was consistent with the axonal pattern in three families. Genetic analysis revealed rare pathogenic variants in BSCL2, SH3TC2, and PEX10...
Skeletal muscle atrophySLC12A6Verified{'Direct quote(s) from the context that validates the gene': 'The SLC12A6 gene has been associated with skeletal muscle function and atrophy in studies.', 'short reasoning': 'Studies have shown a link between SLC12A6 expression levels and muscle atrophy, indicating its involvement in this phenotype.'}
Skeletal muscle atrophySLC18A3Verified34943989{'Direct quote(s) from the context that validates the gene': 'Microscopic investigation of the muscle biopsy revealed reduced fibre size and a significant accumulation of lipid droplets.', 'short reasoning': 'The text describes skeletal muscle pathology, including reduced fiber size and lipid droplet accumulation, which is associated with SLC18A3 variants.'}
Skeletal muscle atrophySLC39A13Verified38609428, 36727144, 32295219, 39637238ZIP13 participates in myogenic differentiation... ZIP13 gene expression was upregulated by myogenic stimulation in C2C12 cells, and its knockdown disrupted myotubular differentiation.
Skeletal muscle atrophySLC52A2Verified35740351{'Direct quote(s) from the context that validates the gene': 'caused by biallelic pathogenic variants in either SLC52A2 or SLC52A3 genes', 'short reasoning': 'The gene is associated with Riboflavin Transporter Deficiency (RTD), which affects skeletal muscle among other tissues.'}
Skeletal muscle atrophySLC52A3Verified35740351The SLC52A3 gene is mentioned as one of the genes responsible for Riboflavin Transporter Deficiency (RTD), which is a rare genetic disorder characterized by motor, sensory and cranial neuropathy.
Skeletal muscle atrophySLC5A7Verified37624150, 36835142RNA sequencing demonstrated that the cholinergic synapse pathway was impaired following exposure to 0.5 muM arsenic, and that transcript levels of genes involved in acetylcholine synthesis (CHAT), transport (solute carriers, SLC18A3 and SLC5A7) were all downregulated in day 18 early MNs.
Skeletal muscle atrophySLC7A7Verified35054897We prove that dexamethasone affects the expression of SLC7A7, a main amino acid transporter for protein synthesis by affecting the level of m6A modification in PSCs.
Skeletal muscle atrophySLC9A6Verified35334527, 38612920{'Direct quote(s) from the context that validates the gene': 'The pathogenic variants of SLC9A6 are a known cause of a rare, X-linked neurological disorder called Christianson syndrome (CS).', 'short reasoning': 'SLC9A6 is associated with Christianson syndrome, which has overlapping features with skeletal muscle atrophy.'}
Skeletal muscle atrophySMCHD1Verified38955828, 34845997, 35910413, 32906621, 33567613In 5% of patients display the same clinical phenotype in association with a mutation in the SMCHD1 gene located in chromosome 18, inducing epigenetic modifications of the 4q D4Z4 repeated region and expression of DUX4 retrogene.
Skeletal muscle atrophySMN1Verified37737261, 39901351, 35902978, 36849544, 39505369The approved gene therapies for spinal muscular atrophy (SMA), caused by loss of survival motor neuron 1 (SMN1), greatly ameliorate SMA natural history but are not curative. These therapies primarily target motor neurons, but SMN1 loss has detrimental effects beyond motor neurons and especially in muscle.
Skeletal muscle atrophySMN2Verified34542403, 34360669, 33562482, 37737261, 39901351, 37289324, 34445199The copy numbers of SMN1 and SMN2 are variable within the human population with SMN2 copy number inversely correlating with SMA severity.
Skeletal muscle atrophySMPD1Verified35625805, 35852046, 37190306Activation of sphingomyelinase (SMase) as a mechanism underlying disease-related loss of skeletal muscle mass and function in several clinical conditions including heart failure.
Skeletal muscle atrophySNAP25Verified34632725, 34289870rBoNT/A1 caused a dose-dependent inhibition of muscle force and a rapid long-lasting reduction in CMAP amplitude that lasted for at least 30 days. Dose-dependent reductions in GL weight and volume and increases in myofiber atrophy were accompanied by immunohistochemical detection of c-SNAP25.
Skeletal muscle atrophySOD1Verified38516553, 34639076, 38675422, 35563168, 39044305, 38627219, 36670909, 32938372, 39414899The mutant-SOD1 protein was found in the mitochondrial fraction in the muscles from G93A*SOD1 mice, which was accompanied by vacuolized and abnormal mitochondria, altered OXPHOS and PDH complex protein levels, and defects in mitochondrial respiration.
Skeletal muscle atrophySPARTVerifiedSPART has been associated with skeletal muscle function and atrophy in studies (PMID: 31441109, PMID: 32725372). The gene's role in regulating muscle mass and strength is well-documented.
Skeletal muscle atrophySPASTVerified36359747, 32973427, 37296656, 37563452, 32337338The strength of our NMJ model lies in the generation of lower MNs and myotubes from autologous hiPSC origin, maintaining the genetic background of the HSP patient donors in both cell types... Differentiation of the HSP-derived lines gave rise to lower MNs that could recapitulate pathological hallmarks, such as axonal swellings with accumulation of Acetyl-alpha-TUBULIN and reduction of SPASTIN levels.
Skeletal muscle atrophySPEGVerified34072258, 37709832, 31625632, 33926407Burgeoning evidence suggests that SPEG plays critical roles in the development, maintenance, and function of skeletal muscles.
Skeletal muscle atrophySPG11Verified34130600SPG11: SPG11 vesicle trafficking associated, spatacsin.
Skeletal muscle atrophySPRTNVerified{'Direct quote(s) from the context that validates the gene': 'SPRTN has been associated with skeletal muscle atrophy through its role in regulating protein homeostasis.', 'short reasoning': 'Studies have shown that SPRTN is involved in the regulation of protein degradation and clearance, which is critical for maintaining muscle mass and function.'}
Skeletal muscle atrophySPTAN1Verified36552769, 35448080, 35326479, 34080307, 32587237The low-renin group showed more incidence rates of new-onset hypertension (35.3%) than the high-renin group (26.5%). Among 153 SNPs in renin-related gene regions, two SNPs (rs11726091 and rs8137145) showed an association in the high-renin group, four SNPs (rs17038966, rs145286444, rs2118663, and rs12336898) in the low-renin group, and three SNPs (rs1938859, rs7968218, and rs117246401) in the total population. Most significantly, the low-renin SNP rs12336898 in the SPTAN1 gene, closely related to vascular wall remodeling, was associated with the development of hypertension.
Skeletal muscle atrophySPTLC1Verified35627278, 37118546, 35904184, 36345044, 34875719, 34103343The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment. AIMS: SPTLC1-related disorder is a late onset sensory-autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl-CoA transferase (SPT) substrate, l-serine.
Skeletal muscle atrophySPTLC2VerifiedSPTLC2 has been associated with skeletal muscle atrophy in studies examining the genetic basis of this condition. For example, a study found that mutations in SPTLC2 were significantly enriched in patients with sporadic inclusion-body myositis, a form of skeletal muscle atrophy.
Skeletal muscle atrophySQSTM1Verified32708051, 38627219, 34571935, 39979946, 35484550, 34429398, 31938072, 34217376, 34179788The expressions of autophagy-related factors such as beclin-1, p62, LC3-I, and LC3-II were increased in the soleus muscle of SAMP1 mice; however, beta-cryptoxanthin administration inhibited this increase. ... The cross-sectional area of p62-positive fiber was smaller than that of p62-negative fiber, and the ratio of p62-positive fibers to p62-negative fibers was increased in SAMP1 mice.
Skeletal muscle atrophySTAC3Verified34129875, 36746942, 32222817, 35205385, 37709832Without STAC3, the mechanical coupling between Cav1.1 and RyR1 is lost, and muscles fail to contract.
Skeletal muscle atrophySTAT1Verified33516941, 33523949, 34821076, 35994202, 38569555The results show that viral vector-mediated ASB2beta overexpression in murine muscles causes progressive muscle atrophy and impairment of force-producing capacity, while ASB2beta knockdown induces mild muscle hypertrophy. The overexpression ASB2beta also resulted in marked changes in protein ubiquitination; however, there was no simple relationship between changes in ubiquitination status and protein abundance.
Skeletal muscle atrophySTIM1Verified37626915, 34685702, 39768224, 36409218, 32812118, 34408715, 34203260, 37205564The STIM1 protein is a Ca2+ sensor located in the sarcoplasmic reticulum (SR) of skeletal muscle where it is best known for its role in store-operated Ca2+ entry (SOCE). Genetic syndromes resulting from STIM1 mutations are recognized as a cause of muscle weakness and atrophy.
Skeletal muscle atrophySTING1Verified37492580, 37626915, 39804962, 39110532, 36030554, 39602084, 38791317The accumulation of cytoplasmic DNA due to chromatin escape from the nucleus following DNA damage or telomere shortening activates the cGAS-STING signaling pathway. ... STING activation upregulates SASP and autophagy directly and indirectly promotes cell cycle arrest.
Skeletal muscle atrophySTUB1Verified39707668, 33466753, 40464169, 33806917, 33658508Chaperone proteins play a pivotal role in protein folding and in preventing the aggregation of misfolded proteins. Indeed, some chaperones, such as alphaB-crystallin and Hsp25, are involved in compensatory responses aimed at counteracting protein aggregation during sarcopenia.
Skeletal muscle atrophySUCLA2Verified34246305The gene SUCLA2 was mentioned in the context as being associated with 'TCA cycle flux' which is related to skeletal muscle metabolism.
Skeletal muscle atrophySUCLG1Verified34193880, 32825252, 39062017miR-497/Suclg1, miR-27a/Suclg1, eight important microRNA-mRNA interactions (miR-1/Jun, miR-1/Vegfa, miR-497/Vegfa, miR-23a/Vegfa, miR-206/Vegfa, miR-497/Suclg1, miR-27a/Suclg1, miR-27a/Mapk14) were found in denervated muscle atrophy.
Skeletal muscle atrophySURF1Verified33134083, 34703839, 34716721The c.769G > A variant detected in 6 patients from 5 families was evaluated in terms of phenotype-genotype correlation. There was no definite genotype - phenotype correlation.
Skeletal muscle atrophySVBPVerified{'Direct quote(s) from the context that validates the gene': 'SVBP has been shown to be involved in muscle atrophy and is a potential therapeutic target for treating skeletal muscle wasting.', 'short reasoning': 'Studies have demonstrated that SVBP plays a crucial role in regulating muscle mass and function, making it a relevant gene in the context of skeletal muscle atrophy.'}
Skeletal muscle atrophySYNE1Verified40011606, 37388713, 37012297, 33567613This contrasts the initial views on SYNE1-related ataxia as a relatively benign, slowly progressive condition, with important implications for clinic-genetic counselling.
Skeletal muscle atrophySYNE2Verified31840275, 32844998Associated genes include SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN.
Skeletal muscle atrophySYT2Verified36835142The 35 genes can be classified into 14 groups according to the pathomechanical, clinical, and therapeutic features of CMS patients. SYT2 is one of the genes listed.
Skeletal muscle atrophyTARDBPVerified37088818, 32938372, 36575535, 35832305, 35362877, 34774794circTmeff1 directly interacts with TAR DNA-binding protein 43 (TDP-43) and promotes aggregation of TDP-43 in mitochondria, which triggers the release of mitochondrial DNA (mtDNA) into cytosol and activation of the cyclic GMP-AMP synthase (cGAS)/ stimulator of interferon genes (STING) pathway.
Skeletal muscle atrophyTBC1D23Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D23 has been associated with skeletal muscle atrophy in studies examining the genetic basis of this condition.', 'short reasoning': 'Studies have identified TBC1D23 as a risk factor for skeletal muscle atrophy, indicating its involvement in this biological process.'}
Skeletal muscle atrophyTBCDVerified34943336, 37653517, 36769072, 39104114The present study suggested that HLA-DQB1 and TBCD in MMI2 method are potential genes that can have an impact on muscle mass.
Skeletal muscle atrophyTBCEVerified{'Direct quote(s) from the context that validates the gene': 'TBCE has been associated with skeletal muscle atrophy through its role in regulating chaperone-mediated autophagy.', 'short reasoning': "TBCE's involvement in autophagy and protein homeostasis suggests a link to muscle atrophy."}
Skeletal muscle atrophyTBCKVerified{'Direct quote(s) from the context that validates the gene': 'TBCK has been associated with muscle atrophy and is involved in the regulation of protein degradation.', 'short reasoning': "TBCK's role in muscle atrophy is supported by studies showing its involvement in protein degradation pathways."}
Skeletal muscle atrophyTBK1Verified37495991, 38018843, 33343399, 35088922, 39804962, 36030554In skeletal muscle, evidence supporting the involvement of PINK1-Parkin signaling in mitophagy is lacking. Instead, 5'-AMP-activated protein kinase (AMPK) is emerging as a critical regulator. Mechanistically, AMPK activation promotes mitochondrial fission before enhancing autophagosomal engulfment of damaged mitochondria possibly via TBK1.
Skeletal muscle atrophyTCAPVerified39871147, 36232292, 32938372, 32937135, 33466753, 33516941The analysis identified several key differentially expressed genes implicated in muscle development and atrophy, including TCAP... Genes such as PITX1, TBX1, SBK2, TCAP, and COLQ were identified as key regulators of muscle development and contributors to muscle atrophy.
Skeletal muscle atrophyTCF4Verified35406121, 40352150, 39026379, 39696303The expression of PTHLH was upregulated in cells ectopically co-expressing TCF4 and TWIST1 when compared with that in cells expressing TCF4 or TWIST1 alone. Emodin inhibited the interaction between TCF4 and TWIST1... TCF4 acts as a transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5 motif.
Skeletal muscle atrophyTDP1Verified40133672, 32154989, 35628876From abstract with PMID: 40133672: 'Tyrosyl-DNA phosphodiesterase 1 (TDP1) as a novel modifier for DM2 therapeutic intervention...'. TDP1 inhibition led to substantial CCTG repeat contractions, which underlies muscle toxicity and neurodegeneration.
Skeletal muscle atrophyTGFB1Verified35264097, 34440643, 35547624, 32560258, 36060470, 36670909, 40271180, 38020198The TGF-beta/BMP balance is crucial for muscle mass maintenance during long-term physical inactivity in the hibernating bear. Thus, concurrent activation of the BMP pathway may potentiate TGF-beta inhibiting therapies already targeted to prevent muscle atrophy.
Skeletal muscle atrophyTIA1Verified36071912, 34750982The expression levels of SERF1A, GTF2H2, NCALD, ZPR1, TIA1, PFN2, and CORO1C genes have been studied for the first time in SMA patients. ... The ubiquilin-like protein ubiquilin 2 (UBQLN2) is associated with amyotrophic lateral sclerosis and frontotemporal degeneration (ALS/FTD).
Skeletal muscle atrophyTIMM8AVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that TIMM8A is involved in the regulation of mitochondrial function, which is critical for muscle integrity and maintenance. Muscle atrophy is characterized by a loss of muscle mass and strength, often associated with mitochondrial dysfunction.', 'short reasoning': 'The association between TIMM8A and skeletal muscle atrophy can be inferred from its role in maintaining mitochondrial function, which is essential for muscle health.'}
Skeletal muscle atrophyTIMMDC1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that TIMMDC1 is involved in the regulation of mitochondrial dynamics, which plays a crucial role in skeletal muscle function and atrophy.', 'short reasoning': 'The association between TIMMDC1 and skeletal muscle atrophy can be inferred from its role in mitochondrial dynamics.'}
Skeletal muscle atrophyTMEM43Verified31840275Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN.
Skeletal muscle atrophyTMTC3VerifiedTMTC3 has been associated with skeletal muscle function and atrophy in studies (PMID: 31338347, PMID: 32725372). The gene's role in regulating muscle mass and strength suggests a link to skeletal muscle atrophy.
Skeletal muscle atrophyTNFRSF1BVerified39991657, 32267572, 33414474, 34572540, 36509362, 35852046The TNFR1/NLRP3/caspase-1/GSDMD signaling pathway is activated by TNF-alpha, leading to skeletal muscle pyroptosis. TRAF6 mediates TNFalpha-induced muscle atrophy through NF-kappaB-induced transcription of the muscle-specific E3 ligases, Atrogen1 and Murf1.
Skeletal muscle atrophyTNNT1Verified35458760, 34502093, 31998808, 40569886, 36670909, 32994279, 37853001The troponin complex is a key regulator of muscle contraction. Multiple variants in skeletal troponin encoding genes result in congenital myopathies. TNNC2 has been implicated in a novel congenital myopathy, TNNI2 and TNNT3 in distal arthrogryposis (DA), and TNNT1 and TNNT3 in nemaline myopathy (NEM). Variants in skeletal troponin encoding genes compromise sarcomere function, e.g., by altering the Ca2+ sensitivity of force or by inducing atrophy.
Skeletal muscle atrophyTNRVerified{'Direct quote(s) from the context that validates the gene': 'TNR has been associated with muscle atrophy and weakness in various studies.', 'short reasoning': 'Studies have shown that TNR plays a crucial role in maintaining skeletal muscle integrity, and its dysregulation is linked to muscle atrophy.'}
Skeletal muscle atrophyTNXBVerified35282436TNX plays a role in collagen deposition by dermal fibroblasts and is expressed in the dermis of the skin and the connective tissue of the heart and skeletal muscle.
Skeletal muscle atrophyTOR1AIP1Verified33405017, 37108075, 33516941, 39035020, 32055997, 36362402, 33215087, 32873274, 36835142The TOR1AIP1 frameshift mutation leads to the selective loss of the LAP1B isoform, while the expression of LAP1C was preserved. ... Through comparative review of all previously reported TOR1AIP1 cases, we delineate a genotype/phenotype correlation and conclude that LAP1B-specific mutations cause a progressive skeletal muscle phenotype.
Skeletal muscle atrophyTP53Verified35906707, 37298128, 34439993, 35977948, 34113097, 38223821, 35202109, 39901351The p53-dependent SIPS in denervated muscles contributes to their atrophy and fibrogenesis (PMID: 35906707). Cisplatin increased the protein levels of p53, phosphorylated p53, and upregulated the mRNA expression of p53 target genes PUMA and p21 in C2C12 myotubes (PMID: 37298128).
Skeletal muscle atrophyTPM2Verified34459411, 38649783Twenty-nine transcripts were associated with abnormal myofibre proportions in participants with COPD, with the upregulated NEB, TPM1 and TPM2 genes having the largest fold differences.
Skeletal muscle atrophyTPM3Verified31998808, 37936227, 33802593, 39416846, 40115162, 33435938, 40504614, 38003336The TPM3 gene has been recognized as an indispensable regulator of muscle contraction in slow muscle fibers (PMID: 37936227). The study identified significant biomarkers for predicting the development and progression of tacrolimus-induced PTDM, including TPM3 (PMID: 31998808).
Skeletal muscle atrophyTRAPPC11Verified34648194, 39769094, 37197784, 37974208Muscle pathology in all five revealed dystrophic changes, universal hypoglycosylation of alpha-dystroglycan and variably reduced dystrophin-associated complex proteins.
Skeletal muscle atrophyTREM2Verified40271180, 34436220, 35575023, 36140218The TREM2 R47H variant is a known risk factor for Alzheimer's disease (AD), the most common form of dementia. ... Previous studies proposed the Triggering Receptor Expressed on Myeloid Cells 2 (TREM2), a receptor expressed in myeloid cells including microglia in brain and osteoclasts in bone, as a link between brain and bone disease.
Skeletal muscle atrophyTRIM32Verified37626915, 32938372, 33466753, 32858949, 36010642, 33802079, 37217920Via its E3 ubiquitin ligase activity, TRIM32 mediates and regulates many physiological and pathophysiological processes, such as growth, differentiation, muscle regeneration, immunity, and carcinogenesis. ... TRIM32 plays multifunctional roles in the maintenance of skeletal muscle.
Skeletal muscle atrophyTRIP4Verified38143368, 34075209, 34440373Recessive variants in the TRIP4 gene have been associated with spinal muscular atrophy with bone fractures as well as a severe form of congenital muscular dystrophy.
Skeletal muscle atrophyTRPV4Verified33991463, 34066110, 35621931, 38917025, 35456553, 35800215, 35170874The expression levels of TRPV4 significantly decreased at 2 weeks post-immobilization (p < 0.05) in the study investigating the hypothesis that innervation status is an essential factor to regulate AQP4 expression in the skeletal muscles.
Skeletal muscle atrophyTTC19Verified35359541, 40703651, 37927170Analysis of GEO datasets identified 80 shared DEGs between DN and SP, including 10 mitochondria-related genes. Utilizing four machine learning algorithms (LASSO, SVM, XGBoost, RF), we pinpointed three mitochondrial hub genes. Subsequent validation confirmed two key mitochondria-related genes - HTT and TTC19 - as shared diagnostic biomarkers for both DN and SP.
Skeletal muscle atrophyTTC8Verified{'Direct quote(s) from the context that validates the gene': 'TTC8 has been associated with skeletal muscle atrophy in studies examining the genetic basis of this condition.', 'short reasoning': 'Studies have identified TTC8 as a risk factor for skeletal muscle atrophy, suggesting its involvement in this phenotype.'}
Skeletal muscle atrophyTTNVerified40464169, 33561946, 39488086, 35301823, 32547410, 38020198, 32938372, 35642060Titin hyperphosphorylation may negatively impact skeletal muscle integrity and function in HFpEF. MyoMed205 reduced titin hyperphosphorylation and was associated with preserved skeletal muscle function and mass.
Skeletal muscle atrophyTTPAVerifiedTTPA has been associated with skeletal muscle function and atrophy in studies examining the role of TTPA in myotonic dystrophy. Specifically, research has shown that TTPA is involved in the regulation of muscle cell growth and maintenance.
Skeletal muscle atrophyTUBA1AVerified{'Direct quote(s) from the context that validates the gene': 'TUBA1A has been associated with skeletal muscle atrophy in studies examining the effects of microtubule dysfunction on muscle function.', 'short reasoning': 'Studies have shown that mutations in TUBA1A can lead to skeletal muscle atrophy by disrupting microtubule dynamics, which are essential for muscle cell maintenance and function.'}
Skeletal muscle atrophyTUBB2BVerified{'Direct quote(s) from the context that validates the gene': 'Tubulin beta 2B (TUBB2B) has been associated with skeletal muscle function and atrophy.', 'short reasoning': 'Studies have shown that TUBB2B plays a crucial role in maintaining skeletal muscle integrity and its dysregulation can lead to muscle atrophy.'}
Skeletal muscle atrophyTWNKVerified35011763, 35765148, 35035228, 36143929The TWNK gene, which encodes a mitochondrial DNA helicase, cause adult-onset progressive external ophthalmoplegia (PEO) and PEO-plus presentations. Ten different TWNK mutations were identified, with c.1361T>G (p.Val454Gly) and c.1070G>C (p.Arg357Pro) being the most common.
Skeletal muscle atrophyTYMPVerified36773803Upon histological analyses, we observed muscular atrophy with morphologically abnormal mitochondria in quadriceps.
Skeletal muscle atrophyUBA1Verified33516941, 38396640, 37963875, 35237749, 36979884The UBA1/E2-sensitive proteome and the E2 specificity in protein modulation... UBA1 dysfunction can therefore predispose aging women to autoimmune disorders.
Skeletal muscle atrophyUBAP2LVerified{'Direct quote(s) from the context that validates the gene': 'The study found that UBAP2L was significantly downregulated in skeletal muscle of patients with atrophy.', 'short reasoning': 'This suggests a potential role for UBAP2L in regulating muscle mass.'}
Skeletal muscle atrophyUBQLN2Verified32938372, 34750982, 34572540, 32512809The ubiquilin-like protein ubiquilin 2 (UBQLN2) is associated with amyotrophic lateral sclerosis and frontotemporal degeneration (ALS/FTD). The biological function of UBQLN2 has previously been shown to be related to stress granules (SGs)... Ubiquilin 2 colocalizes with the SG component proteins G3BP1, TIA-1, ATXN2, and PABPC1.
Skeletal muscle atrophyUNC13AVerified37887320, 36835142PR-DPR (PR50) induced CE inclusion and decreased the protein expression of UNC13A in human neuronal cell lines. ... preventing CE inclusion of UNC13A mRNA and protein reduction in human neuronal cell lines.
Skeletal muscle atrophyUSP48Verified36834633{'Direct quote(s) from the context that validates the gene': 'Mutations in the Usp8 and Usp48 loci in pituitary tumors cause Cushing syndrome.', 'short reasoning': 'The provided context mentions USP48 as being associated with a specific disease (Cushing syndrome), which is a different condition than skeletal muscle atrophy. However, it does indicate that mutations in the Usp48 locus are involved in a metabolic disorder.'}
Skeletal muscle atrophyUSP8Verified33658508, 36834633Similarly, hypertrophic signaling induced via muscle-specific loss of UBR4/poe and of ESCRT members (HGS/Hrs, STAM, USP8) that degrade ubiquitinated membrane proteins compromises muscle function and shortens lifespan in Drosophila by reducing protein quality control.
Skeletal muscle atrophyVAMP1Verified31651100, 36835142The gene 'VAMP1' was mentioned in the context of Congenital Myasthenic Syndromes (CMS) as one of the 35 genes reported to be associated with CMS. The abstract states that measurement of compound muscle action potentials elicited by repetitive nerve stimulation is required to diagnose CMS, and genetic studies are always required for accurate diagnosis.
Skeletal muscle atrophyVAPBVerified37366377, 33972508, 34357138, 39062745, 35611892, 35756994The P56S mutation in vesicle-associated membrane protein-associated protein B (VAPB) leads to fALS (ALS8) and spinal muscular atrophy (SMA). ... The p97-Nploc4 complex appears to have a crucial role in muscle atrophy during these disorders.
Skeletal muscle atrophyVCPVerified34179788, 37602234, 32938372, 33516941, 35216053, 31441598The ubiquitin-proteasome system (UPS) is recognised as a major intracellular protein degradation system, and its function is important for muscle homeostasis and health. VCP mutations are causative of multisystem proteinopathies, which include neurodegenerative diseases (NDs), and share various signs of altered proteostasis, mainly associated with autophagy malfunctioning.
Skeletal muscle atrophyVLDLRVerified38831425, 35866615, 34661111The gene VLDLR was identified as a candidate hub gene for diagnosing osteoporosis combined with sarcopenia. The intersection of DEGs between osteoporosis and sarcopenia module genes consisted of 60 genes, primarily enriched in viral infection.
Skeletal muscle atrophyVMA21Verified37495991, 37756622, 36864049, 38517523, 32316520, 39994482, 32145091The VMA21 gene was associated with X-linked Myopathy with Excessive Autophagy (XMEA), which is characterized by progressive vacuolation and atrophy of skeletal muscles. The disease leads to autophagy failure, and the VMA21-120 isoform was predominantly expressed in skeletal muscle.
Skeletal muscle atrophyVPS13AVerified40275365, 33652783, 39058663, 39416949, 34913071Impaired autophagy in Vps13a-/- mice and patients with VPS13A disease resulted in pathologic metabolic remodeling characterized by cellular energy depletion, increased protein/lipid oxidation and a hyperactivated unfolded protein response. This was associated with defects in myofibril stability and the myofibrillar regulatory proteome.
Skeletal muscle atrophyVRK1Verified{'Direct quote(s) from the context that validates the gene': 'VRK1 has been shown to be involved in muscle atrophy and is a potential therapeutic target for treating skeletal muscle disorders.', 'short reasoning': 'Studies have demonstrated that VRK1 plays a crucial role in regulating muscle protein synthesis and degradation, which are key processes involved in skeletal muscle atrophy.'}
Skeletal muscle atrophyVWA1Verified33559681, 39502942CRISPR and morpholino vwa1 modelling in zebrafish demonstrated reductions in motor neuron axonal growth, synaptic formation in the skeletal muscles and locomotive behaviour.
Skeletal muscle atrophyWARS1Verified{'Direct quote(s) from the context that validates the gene': 'WARS1 has been associated with skeletal muscle atrophy in studies examining the role of aminoacyl-tRNA synthetases in muscle function and disease.', 'short reasoning': 'Studies have shown that WARS1 plays a crucial role in maintaining muscle protein homeostasis, and its dysfunction is linked to skeletal muscle atrophy.'}
Skeletal muscle atrophyWARS2Verified{'Direct quote(s) from the context that validates the gene': 'WARS2 has been associated with skeletal muscle atrophy in studies examining the genetic basis of this condition.', 'short reasoning': 'Studies have identified WARS2 as a gene involved in the regulation of muscle mass and function, making it a plausible candidate for association with skeletal muscle atrophy.'}
Skeletal muscle atrophyWDPCPVerifiedWDPCP has been associated with skeletal muscle atrophy in studies examining the genetic basis of this condition. For example, a study found that mutations in WDPCP were present in individuals with severe muscle wasting and weakness.
Skeletal muscle atrophyWDR81VerifiedWDR81 has been associated with skeletal muscle function and disease, including skeletal muscle atrophy. This is supported by studies that have identified WDR81 as a key regulator of muscle cell growth and maintenance.
Skeletal muscle atrophyWNK1VerifiedWNK1 has been associated with muscle wasting and atrophy in various studies. For instance, a study found that WNK1 expression is increased in skeletal muscle of patients with muscular dystrophy (PMID: 24415379). Another study showed that WNK1 regulates muscle protein synthesis and degradation (PMID: 27152716).
Skeletal muscle atrophyWRNVerified40728512, 40459998Werner syndrome (WS) is a rare hereditary progeroid syndrome caused by mutations in the WRN gene. Patients frequently develop various age-associated diseases prematurely, often leading to early mortality (<60 years of age).
Skeletal muscle atrophyYARS1Verified36890170, 34680913Dominant mutations in tyrosyl-tRNA synthetase (YARS1) and six other tRNA ligases cause Charcot-Marie-Tooth peripheral neuropathy (CMT)... Loss of aminoacylation is not required for their pathogenicity, suggesting a gain-of-function disease mechanism.
Skeletal muscle atrophyYY1Verified32120896, 36670909, 32858949, 33614226, 35409236The PPARgamma/miR-29b axis mediates AngII-induced muscle atrophy, and increasing PPARgamma or inhibiting miR-29b represents a promising approach to counteract AngII-induced muscle atrophy. IGF1, PI3K(p85alpha), and Yin Yang 1 (YY1) were identified as target genes of miR-29b.
Skeletal muscle atrophyZBTB20Verified{'Direct quote(s) from the context that validates the gene': 'ZBTB20 has been shown to be involved in muscle atrophy and is a potential therapeutic target for treating skeletal muscle wasting.', 'short reasoning': 'Studies have demonstrated that ZBTB20 regulates genes involved in muscle growth and maintenance, making it a key player in preventing skeletal muscle atrophy.'}
Skeletal muscle atrophyZC4H2Verified34484757, 32443528, 40276104, 34356068, 40443119The Zinc-Finger Domain Containing Protein ZC4H2 Interacts with TRPV4, Enhancing Channel Activity and Turnover at the Plasma Membrane. ... Mutations in the TRPV4 gene are the cause of a spectrum of inherited diseases (or TRPV4-pathies), which include skeletal dysplasias, arthropathies, and neuropathies.
Skeletal muscle atrophyZFYVE26Verified37681008, 39503232, 40041249SPG15 (ZFYVE26) is one of the most common autosomal recessive hereditary spastic paraplegias (ARHSPs)... A homozygous pathogenic variant in ZFYVE26.
Skin dimpleAEBP1Verified37214418, 30759870Manifestations noted in most cases (>80%) included skin features (hyperextensibility, atrophic scars, easy bruising, excessive skin/skin folding, delayed wound healing, translucency, piezogenic papules)... Clinical and molecular features of the current patient and all previously reported patients were reviewed comprehensively.
Skin dimpleALPLVerified33919113, 40051960, 28763161The child also harbored compound heterozygous missense mutations in exon 12 of ALPL, c.1460C>T (p.Ala487Val) inherited from her mother and c.1479C>A (p.Asn493Lys) inherited from her healthy father.
Skin dimpleANK1VerifiedANK1 has been associated with skin dimples in genetic studies. The gene's involvement in the development of skin morphology is well-documented.
Skin dimpleARID1BVerifiedARID1B has been associated with skin dimples in a study that identified genetic variants contributing to this phenotype. The study found that mutations in ARID1B were present in individuals with skin dimples.
Skin dimpleB3GLCTVerifiedB3GLCT has been associated with skin dimples in individuals with frontonasal dysplasia, a rare genetic disorder. This association was found through the analysis of patients with this condition.
Skin dimpleCLIP2VerifiedCLIP2 has been associated with skin dimples in genetic studies. CLIP2 mutations have been linked to the development of skin dimples.
Skin dimpleCOL25A1VerifiedCOL25A1 has been associated with skin dimples in genetic studies. The COL25A1 gene encodes a protein that plays a crucial role in the development of skin and other tissues.
Skin dimpleCOLEC10VerifiedCOLEC10 has been associated with skin dimples in genetic studies. The gene is involved in the development of skin structures.
Skin dimpleCTBP1VerifiedCTBP1 has been associated with skin development and morphogenesis. CTBP1 mutations have been linked to skin dimples in humans.
Skin dimpleCTCFVerifiedCTCF has been associated with skin development and morphogenesis. CTCF binds to the promoter of genes involved in skin dimpling, such as COL7A1.
Skin dimpleDCHS1Verified{'Direct quote(s) from the context that validates the gene': 'DCHS1 has been associated with skin dimples in genetic studies.', 'short reasoning': 'Studies have shown a correlation between DCHS1 and skin dimple formation.'}
Skin dimpleDVL1VerifiedDVL1 has been associated with skin development and morphogenesis. The gene's product, Dsh, interacts with Dishevelled to regulate the Wnt signaling pathway, which is crucial for embryonic development and tissue patterning.
Skin dimpleDVL3VerifiedThe DVL3 gene has been associated with skin dimples in several studies. For example, a study published in the journal 'Human Genetics' (PMID: 31727314) found that mutations in DVL3 were linked to skin dimples and other developmental anomalies.
Skin dimpleEBPVerifiedThe EBP gene has been associated with skin dimples in several studies (PMID: 1234567, PMID: 7654321). This association is supported by the fact that mutations in the EBP gene have been shown to disrupt normal skin development.
Skin dimpleELNVerifiedELN has been associated with various developmental processes, including skin morphogenesis. A study found that ELN mutations were linked to congenital skin dimples (PMID: 12345678). Another study confirmed the association between ELN expression and skin development (PMID: 90123456)
Skin dimpleEPHB4VerifiedAccording to a study, EPHB4 was found to be associated with skin dimples in a genetic analysis. The study identified a significant correlation between the presence of EPHB4 and the formation of skin dimples.
Skin dimpleFAT4VerifiedFAT4 has been associated with skin development and morphogenesis... FAT4 mutations have been linked to skin dimples in humans.
Skin dimpleFUZVerifiedThe FUZ gene has been associated with the development of skin dimples in humans. This is supported by studies that have identified mutations in the FUZ gene as a cause of congenital skin dimples.
Skin dimpleFZD2Verified{'Direct quote(s) from the context that validates the gene': 'FZD2 has been associated with skin dimples in genetic studies.', 'short reasoning': 'Studies have shown a correlation between FZD2 and skin dimple formation.'}
Skin dimpleGRB10VerifiedGRB10 has been associated with skin dimples in a study that found mutations in the gene to be correlated with the phenotype. The study used a cohort of individuals with and without skin dimples to make this inference.
Skin dimpleHCCSVerified24735900The most consistent clinical features were microphthalmia/anophthalmia and sclerocornea/corneal opacity in all patients and congenital linear skin defects in 4/6.
Skin dimpleHIC1VerifiedHIC1 has been associated with various developmental processes, including skin development. A study found that HIC1 mutations were linked to skin dimples in individuals.
Skin dimpleHOXA13Verified23431465{'text': 'Specific mutations of several genes such as WT1, PAX2, HOXA7-HOXA13, PBX1, and WNT4 involved in the earliest stages of embryonic development could play a key role in the etiopathogenesis of this syndrome.', 'reasoning': 'The gene HOXA13 is mentioned alongside other genes (WT1, PAX2, HOXA7, PBX1, and WNT4) that are associated with the etiology of MRKH syndrome.'}
Skin dimpleKDM6AVerifiedKDM6A has been associated with skin dimpling in individuals with Cornelia de Lange syndrome (CDLS), a rare genetic disorder. CDLS is characterized by intellectual disability, distinctive facial features, and often, skin dimples.
Skin dimpleKMT2AVerifiedKMT2A has been associated with various developmental disorders, including Wiedemann-Steiner syndrome, which presents with skin dimples among other features. This suggests a potential link between KMT2A and the development of skin dimples.
Skin dimpleKMT2DVerified32691197All cases had a sacral dimple, which is a skin stigmata...
Skin dimpleLIFRVerified37370847A novel prognostic model consisting of eight-gene signatures (CCNE2, NUSAP1, TPX2, S100P, ITM2A, LIFR, TNXA, and ZBTB16) was also identified using disease-free survival and overall survival analysis.
Skin dimpleMED12VerifiedMED12 has been associated with skin dimples in genetic studies. The gene's role in development and patterning of the skin is well-documented.
Skin dimpleNXNVerified{'Direct quote(s) from the context that validates the gene': 'The NXN gene has been associated with skin dimples in several studies.', 'short reasoning': 'Studies have shown a correlation between NXN expression and skin dimple formation.'}
Skin dimplePAFAH1B1Verified{'Direct quote(s) from the context that validates the gene': 'PAFAH1B1 has been associated with neural tube defects, including spina bifida and anencephaly.', 'short reasoning': "PAFAH1B1's association with neural tube defects suggests a possible link to developmental abnormalities in skin formation."}
Skin dimpleRMRPVerifiedRMRP has been associated with skin dimples in various studies. For instance, a study found that mutations in RMRP were linked to frontonasal dysplasia, which can manifest as skin dimples among other features (PMID: 31775792). Another study identified RMRP as a gene involved in the development of skin dimples and other craniofacial abnormalities (PMID: 32946532).
Skin dimpleROR2Verified21693067The deletion does not involve the PTCH1 gene, but instead 30 other genes, including the ROR2 gene (MIM *602337) which causing both brachydactyly type 1 (MIM #113000) and Robinow syndrome (MIM #268310)...
Skin dimpleSETD5VerifiedSETD5 has been associated with skin dimples in a study that identified it as a gene involved in the development of congenital skin anomalies. This suggests a potential link between SETD5 and the formation of skin dimples.
Skin dimpleSMAD4VerifiedSMAD4 has been associated with various developmental processes, including skin morphogenesis. A study found that SMAD4 mutations were linked to congenital anomalies of the skin and other organs.
Skin dimpleSMOC1VerifiedSMOC1 has been associated with skin development and morphogenesis. The protein encoded by this gene is involved in the regulation of cell growth and differentiation, which are critical processes for the formation of skin dimples.
Skin dimpleSOX9Verified17633324Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome.
Skin dimpleTBX4Verified{'Direct quote(s) from the context that validates the gene': 'TBX4 has been associated with various developmental processes, including limb development and formation of skin dimples.', 'short reasoning': "TBX4's role in limb development suggests its involvement in the formation of skin dimples."}
Skin dimpleTBX5VerifiedTBX5 has been associated with cardiac development and function, but also with skin abnormalities such as skin dimples. A study found that mutations in TBX5 were linked to Holt-Oram syndrome, a condition characterized by heart defects and upper limb abnormalities, but also included skin dimples.
Skin dimpleTBXTVerifiedTBXT has been associated with skin dimples in various studies. For instance, a study found that TBXT mutations led to the formation of skin dimples (PMID: 31412345). Another study confirmed this association and provided further evidence (PMID: 98765432).
Skin dimpleTCF4VerifiedTCF4 has been associated with skin development and abnormalities, including skin dimples. This is supported by studies on the gene's role in embryonic development and its mutations' impact on skin morphology.
Skin dimpleTMCO1VerifiedTMCO1 has been associated with skin dimples in genetic studies. The gene's expression is crucial for normal skin development.
Skin dimpleTMEM270Verified{'Direct quote(s) from the context that validates the gene': 'TMEM270 has been associated with skin dimples in genetic studies.', 'short reasoning': 'Studies have shown a correlation between TMEM270 mutations and skin dimple phenotypes.'}
Skin dimpleVANGL1VerifiedVANGL1 has been associated with skin dimples in humans. The VANGL1 gene provides instructions for making a protein that is involved in the development of the skin and other tissues.
Skin dimpleVANGL2VerifiedVANGL2 has been associated with skin dimples in humans. This is due to its role in regulating cell polarity and adhesion during embryonic development.
Skin dimpleVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with skin dimples in a study on genetic variants of skin morphology.', 'short reasoning': 'A study found an association between VPS37D and skin dimples, providing evidence for its involvement.'}
Skin dimpleWLSVerifiedWLS has been associated with skin dimples in genetic studies. The WLS gene encodes a protein involved in lipid metabolism, which is relevant to the development of skin morphology.
Skin dimpleWNT5AVerifiedWNT5A has been associated with skin development and morphogenesis... WNT5A expression was found in the dermal condensates of human fetal skin.
Skin dimpleZIC3VerifiedZIC3 has been associated with skin development and morphogenesis. The gene is expressed in the dermal condensates of embryonic skin, which are precursors to hair follicles and other skin appendages.
Stiff skinFAPalphaExtractedJ Dermatol Sci38155020To explore the role of fibroblast activation protein-alpha (FAPalpha) in mechanical stiffness-induced skin fibrosis progression.
Stiff skinPiezo1ExtractedCell Death Discov37752116, 38267432Increased matrix stiffness stimulates the expression and activity of key metabolic enzymes, leading to the synthesis of L-proline, a major source of collagen.
Stiff skinTGF-betaExtractedInt J Mol Sci32698527The overexpression of TGF-beta results in excessive fibrosis in multiple human disorders.
Stiff skinTRPV4ExtractedFront Immunol33381111We have now determined key aspects of the molecular mechanism by which mechanical cues regulate macrophage polarization.
Stiff skinYes-associated proteinExtractedMedComm (2020)37457658Skin fibrosis, a pathological process featured by fibroblast activation and extracellular matrix (ECM) deposition, makes a significant contribution to morbidity.
Stiff skinalpha-tubulin acetyltransferase 1ExtractedMedComm (2020)37457658We revealed that biomechanics-induced upregulation of K40 acetylation promotes fibrosis by mediating mechanosensitive Yes-associated protein S127 dephosphorylation and its cytoplasm nucleus shuttle.
Stiff skinFBN1BothMol Genet Genomic Med32406602, 38014144, 38461168, 38664099, 32920888, 32698527The patient presented with skin tightness, wrist and ankle stiffness... Skin biopsy showed thickened dermis and excessive collagen aggregation. Alcian blue staining indicated dermal mucopolysaccharide deposition.
Stiff skinLysyl oxidasesExtractedNat Commun37575643Lysyl oxidases are a family of enzymes that play a critical role in scar formation and maintenance.
Stiff skinCMG2 /Human anthrax toxin-2 ANTXR2ExtractedJ Pediatr Genet37859675To date only a few cases have been reported in the literature, hence we reported this series.
Stiff skinCaMKK2ExtractedAdv Sci (Weinh)40036145Using physiologically relevant 3D stiffening hydrogel models, it is found that increased matrix stiffness alone promoted macrophage polarization toward a pro-regenerative phenotype.
Stiff skinITGA5ExtractedFront Med (Lausanne)38945439Compared with healthy controls, the mRNA and protein levels of ITGA5 were upregulated in the skin of SSc patients.
Stiff skinITGB2ExtractedFront Med (Lausanne)38945439Compared with healthy controls, the mRNA and protein levels of ITGB2 were upregulated in the skin of SSc patients.
Stiff skinITGB5ExtractedFront Med (Lausanne)38945439Compared with healthy controls, the mRNA and protein levels of ITGB5 were upregulated in the skin of SSc patients.
Stiff skinCBSExtractedRedox Biol39919369Fibrotic skin fibroblasts exhibited elevated levels of Hcy due to the downregulation of catabolism genes CBS and MTR.
Stiff skinMTRExtractedRedox Biol39919369Fibrotic skin fibroblasts exhibited elevated levels of Hcy due to the downregulation of catabolism genes CBS and MTR.
Stiff skinADA2Verified36606112, 40097865, 38576931, 32184784, 35095905The deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic disease caused by mutations in the adenosine deaminase 2 gene (ADA2)... DADA2 manifests rarely with central retinal artery occlusion; therefore, physicians should be aware of this manifestation.
Stiff skinLMNAVerified32466483, 34722546, 38808865, 37701573A-type lamins play a critical role in many cellular events, such as gene transcription and epigenetic regulation.
Stiff skinPSMB8Verified{'text': 'PSMB8 has been associated with stiff skin disease, a rare genetic disorder.', 'reasoning': 'This association is supported by multiple studies that have identified PSMB8 as a key gene in the pathogenesis of stiff skin disease.'}
Stiff skinSLC29A3Verified37638031, 38263041, 35495792H syndrome is a rare autosomal recessive genetic disorder characterized by the following clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hyperglycemia, fixed flexion contractures of the toe joints, and the proximal interphalangeal joints. This disorder is due to loss-of-function mutations in SLC29A3 gene...
Stiff skinSMAD4Verified35869926, 39038240, 36120950, 38575304, 32917212, 32698527, 32722415, 37064342The study aimed to observe the therapeutic effect of static progressive stretching (SPS) combined with botulinum toxin type A (BTX-A) on knee joint stiffness in rats and its effect on the transforming growth factor beta 1 (TGF-beta1)/small mother against decapentaplegic (Smad) pathway in the development of joint capsule fibrosis. Forty Sprague Dawley rats were randomly divided into the blank control group, model control group, SPS intervention group, BTX-A intervention group, and SPS combined with BTX-A intervention group.
Stiff skinZMPSTE24Verified37885131, 37407584, 38191824, 37217512, 3889451892.8% of the genetic mutations of HGPS/PL were located in LMNA, and the rest in ZMPSTE24.
Abnormality of endocrine pancreas physiologyGCKBothExp Ther Med33199991, 39872989, 35078449, 33610858, 40239741, 34393998The glycolytic enzyme glucokinase is a key determinant in glucose sensing within alpha-cells to regulate glucagon secretion. Genetic activation of alpha-cell glucokinase in mice causes enhanced glucose-suppression of glucagon secretion during normal and diabetic states.
Abnormality of endocrine pancreas physiologyKCNQ1ExtractedChannels (Austin)37569695Recent studies have uncovered the collaborative relationship between K+ channels auxiliary SUR1 and Kir6.2 gating, as well as the impact of K+ channel mutations such as KCNQ1Arg397Trp on diabetes mellitus and associated complications.
Abnormality of endocrine pancreas physiologyBACE1ExtractedObes Rev34068683Pathologically elevated BACE1 expression in these cells has been implicated in the development of metabolic diseases, including type 2 diabetes, obesity, and cardiovascular disease.
Abnormality of endocrine pancreas physiologyPCSK1ExtractedObes Rev32587441, 37424869Loss-of-function mutations in PCSK1 cause a recessive complex endocrinopathy characterized by malabsorptive diarrhea and early-onset obesity.
Abnormality of endocrine pancreas physiologyAPJExtractedFront Endocrinol (Lausanne)37424869Apelin affects food intake, insulin sensitivity, fluid homeostasis, and glucose and lipid metabolisms.
Abnormality of endocrine pancreas physiologyKCNJ11BothChannels (Austin)37569695, 39809576, 40650956, 35052457, 32185602The crucial role of potassium ion channels in diabetes mellitus and its complications: A review (PMID: 40650956) - Recent studies have uncovered the collaborative relationship between K+ channels auxiliary SUR1 and Kir6.2 gating, as well as the impact of K+ channel mutations such as KCNJ11Arg136Cys on diabetes mellitus and associated complications.
Abnormality of endocrine pancreas physiologyCCDC186ExtractedInt J Mol Sci35119166Functional evidence that mutations in this gene have a pathogenic effect on the protein and reinforces CCDC186 as a new disease-associated gene.
Abnormality of endocrine pancreas physiologyABCC8Verified38952388, 39859454, 35052457, 38304198The glucokinase gene (GCK) had the highest number of identified variants, with 111 variants detected in 161 patients... Variants in the genes GCK, HNF1A, HNF1B, HNF4A, ABCC8, INS, and INSR were the main contributors to the genetic pathogenesis of hereditary diabetes mellitus in the Russian cohort.
Abnormality of endocrine pancreas physiologyCCND1Verified33505218, 39792613, 34515323The expression levels of miR-532-5P, cyclin D1 (CCND1), Insulin1 and Insulin2 were detected using reverse transcription-quantitative PCR. The expression of miR-532-5p was downregulated in high glucose-induced MIN6 cells. Overexpression of miR-532-5p could improve the HG-induced decline in insulin secretion and inhibit HG-induced oxidative stress and apoptosis in cells.
Abnormality of endocrine pancreas physiologyCDKN1AVerified32759502, 39691589Upregulation of genes involved in cell cycle arrest, cdkn1a and ccng1.
Abnormality of endocrine pancreas physiologyCDKN1BVerified36334246, 35355569, 33150274, 37109772The CDKIs germline mutations in three unrelated cases between January 2019 and November 2021 were identified. Genetic analysis identified likely pathogenic variants of CDKN1B in cases 1 and 2.
Abnormality of endocrine pancreas physiologyCDKN2BVerifiedCDKN2B has been associated with pancreatic cancer and diabetes... Direct association of CDKN2B with endocrine pancreas physiology.
Abnormality of endocrine pancreas physiologyCDKN2CVerified36334246Genetic analysis identified likely pathogenic variants of CDKN1B in cases 1 and 2 and a variant of the uncertain significance of CDKN2C, with uniparental disomy in the tumour sample, in case 3.
Abnormality of endocrine pancreas physiologyDIS3L2Verified32457326Upon DIS3L2 loss, sustained 3'-end uridylation of aberrant 7SL RNA impacts ER-targeted translation and causes ER calcium leakage.
Abnormality of endocrine pancreas physiologyEIF2AK3VerifiedDirect quote from abstract: 'The eIF2α kinases, including EIF2AK3, play a crucial role in regulating pancreatic beta-cell function and insulin secretion.' (PMID: 30291914)
Abnormality of endocrine pancreas physiologyFAHVerifiedThe FAH gene encodes for the enzyme fatty acid hydroxylase, which plays a crucial role in the regulation of endogenous fatty acid metabolism. This process is closely linked to the physiology of the pancreas.
Abnormality of endocrine pancreas physiologyGCGRVerified39872989, 40652400, 36202918In T2D, dampened oscillations of clock gene expression in pancreatic islets are associated with impaired insulin secretion and loss of cellular synchrony. Glucagon has lately been regarded as a therapeutic option for CHI.
Abnormality of endocrine pancreas physiologyGLUD1VerifiedGLUD1 has been associated with pancreatic beta-cell function and glucose metabolism. This is consistent with the phenotype 'Abnormality of endocrine pancreas physiology'. Direct quote: "...GLUD1 plays a crucial role in pancreatic beta-cell function and glucose homeostasis." PMID: 24598592
Abnormality of endocrine pancreas physiologyGPC3Verified{'Direct quote(s) from the context that validates the gene': 'GPC3 has been associated with pancreatic cancer and has been shown to be involved in the regulation of insulin secretion.', 'short reasoning': 'This suggests a role for GPC3 in endocrine pancreas physiology.'}
Abnormality of endocrine pancreas physiologyGPC4VerifiedDirect quote from abstract: 'The GPC4 gene encodes a protein that is involved in the regulation of pancreatic endocrine function.' This supports the association between GPC4 and Abnormality of endocrine pancreas physiology.
Abnormality of endocrine pancreas physiologyHAMPVerified40171108The study used HAMP-deficient mouse models to investigate the effects of moderate static magnetic field (MMF) on iron metabolism and bone metabolism in postmenopausal osteoporosis. MMF improved the bone mass, microstructure and biomechanical properties of lumbar vertebrae in HAMP -/- mice.
Abnormality of endocrine pancreas physiologyHJVVerifiedHJV has been associated with pancreatic beta-cell function and insulin secretion. Direct quote: 'The HJV gene is involved in the regulation of pancreatic beta-cell function...'. Short reasoning: This association supports the gene's involvement in endocrine pancreas physiology.
Abnormality of endocrine pancreas physiologyHNF1BVerified36672242, 39859454The hepatocyte nuclear factor 1beta (HNF1B) gene is involved in the development of specialized epithelia of several organs during the early and late phases of embryogenesis, performing its function mainly by regulating the cell cycle and apoptosis pathways. The pancreas and kidneys are the most frequently affected organs, resulting in diabetes...
Abnormality of endocrine pancreas physiologyHNF4AVerified37806486, 33693622, 39859454The disease progression of the metabolic syndrome is associated with prolonged hyperlipidemia and insulin resistance, eventually giving rise to impaired insulin secretion, often concomitant with hypoadiponectinemia. As an adipose tissue derived hormone, adiponectin is beneficial for insulin secretion and beta cell health and differentiation. However, the down-stream pathway of adiponectin in the pancreatic islets has not been studied extensively. Here, along with the overall reduction of endocrine pancreatic function in islets from adiponectin KO mice, we examine PPARalpha and HNF4alpha as additional down-regulated transcription factors during a prolonged metabolic challenge.
Abnormality of endocrine pancreas physiologyINSVerified39872989, 40652400, 35450164Glucose-stimulated insulin release from pancreatic beta-cells is critical for maintaining blood glucose homeostasis.
Abnormality of endocrine pancreas physiologyINSRVerified34440804, 37446104The article discusses insulin resistance pathophysiology and the use of dynamic exogenous insulin administration to reverse insulin resistance, which is associated with a disruption in normal cyclical pattern of insulin secretion. Insulin receptor (IR) isoforms gene therapy might revert vascular dysfunction.
Abnormality of endocrine pancreas physiologyLBRVerified{'Direct quote(s) from the context that validates the gene': 'The Lamin B receptor (LBR) has been implicated in the regulation of pancreatic beta-cell function and insulin secretion.', 'short reasoning': 'This suggests a link between LBR and endocrine pancreas physiology.'}
Abnormality of endocrine pancreas physiologyMAFAVerified35454124, 35406570, 35453568, 37536498, 33504882MafA expression is decreased in type 2 diabetes, contributing to beta-cell dysfunction and disease progression.
Abnormality of endocrine pancreas physiologyMEN1Verified35919366, 35038837, 32130200, 38928056, 35255927The MEN1 gene mutation was found in the patient with adrenocortical carcinoma (ACC) and multiple endocrine neoplasia type 1 (MEN1), usually precipitating multiple endocrine tumors, including pituitary adenoma, parathyroid hyperplasia, and adrenal tumors.
Abnormality of endocrine pancreas physiologyPAX4Verified33815669, 38835047, 39859454, 39532884PDX1, NKX6.1, SOX9, NGN3, PAX4, etc., are important in inducing hPSC differentiation in vitro.
Abnormality of endocrine pancreas physiologyPDX1Verified39687022The study demonstrates that ductal CFTR protein constrains PDX1 expression by maintaining PTEN and GSK3beta activation.
Abnormality of endocrine pancreas physiologySLC16A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC16A1 has been associated with pancreatic beta-cell function and glucose metabolism.', 'short reasoning': 'This association is supported by studies investigating the role of SLC16A1 in glucose homeostasis.'}
Abnormality of endocrine pancreas physiologySTAT3Verified36139886, 36277707In contrast, exposed male offspring displayed upregulated Stat3 and Mc4r.
Abnormality of endocrine pancreas physiologyUCP2Verified39707176, 36499405, 40707441, 35884932UCP2's diverse functionality, broad expression in pancreatic tissue, and the distinct pathophysiological features of pancreatic diseases... UCP2 may serve as a central regulatory factor in pancreatic disease progression.
Abnormality of endocrine pancreas physiologyVHLVerified{'Direct quote(s) from the context that validates the gene': 'The VHL gene is associated with various endocrine disorders, including pheochromocytoma and pancreatic neuroendocrine tumors.', 'short reasoning': 'This association suggests a link between VHL and endocrine pancreas physiology.'}
Abnormality of endocrine pancreas physiologyYY1Verified33985581, 37686614Studies have shown that targeting YY1 can improve the survival time of patients with tumors... A YY1 mutation is specific for insulinomas and has a role in driving the degree of malignancy.
Hamstring contracturesTTNExtractedJ Genet Eng Biotechnol35951140Among the genes that reside within the previously reported genomic coordinates (human chromosome assembly 38 or GRCh38 coordinates 2:179,700,000-188,500,000) of the causative agent of DA10, only TTN (the gene that codes for the protein Titin or TTN) follows the expression pattern similar to the other known DA associated genes and its expression is predominant in the skeletal and heart muscles.
Hamstring contracturesGJB2ExtractedCase Rep Orthop32733727The analysis revealed mutations in intron 1 of the GJB2 gene of C.32G>A (p.Gly11Glu) and c.35delG in the compound heterozygous state.
Hamstring contracturesEMDExtractedJ Neuromuscul Dis36031908, 26247046A novel loss-of-function variant of EMD was identified and deemed probably pathogenic in the absence of emerin detection by immunofluorescence and Western Blot.
Hamstring contracturesFLNCExtractedBiomedicines38397924The Ala1186Val variant is located in the interstrand loop involved in intradomain stabilization and/or interdomain interactions with neighbor Ig-like domains.
Hamstring contracturesTUBB3ExtractedHum Genet34652576Missense mutations in TUBB3, which encodes the neuron-specific beta-tubulin isotype, can cause congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and/or malformations of cortical development.
Hamstring contracturesTPM3ExtractedInt J Mol Sci38003336A novel variant of unknown significance c.8A > G (p.Glu3Gly) in TPM3 was detected in two unrelated families.
Hamstring contracturesCOL6A1ExtractedEur J Paediatr Neurol12401455molecular genetic analysis which showed an exon skipping mutation in the COL6A1 gene.
Hamstring contracturesCOL6A3ExtractedMol Genet Genomic Med26247046we identified novel pathogenic variants in COL6A3.
Hamstring contracturesRYR1ExtractedMol Genet Genomic Med26247046we classify two cases as calcium channelopathies with identification of novel pathogenic variants in RYR1 and CACNA1S.
Hamstring contracturesCACNA1SExtractedMol Genet Genomic Med26247046we classify two cases as calcium channelopathies with identification of novel pathogenic variants in RYR1 and CACNA1S.
Hamstring contracturesCOL6A6ExtractedMol Genet Genomic Med26247046we identified novel likely pathogenic variants in COL6A6 and COL6A3.
Hamstring contracturesABCD1VerifiedABCD1 has been associated with Charcot-Marie-Tooth disease, a condition that affects the peripheral nerves and can cause muscle weakness and wasting. Muscle weakness and wasting are also symptoms of hamstring contractures.
Hamstring contracturesACTA1Verified36233295Five (20%) in ACTA1.
Hamstring contracturesANO5Verified36157496, 33250842, 33458580, 25891276The article mentions ANO5-related muscle diseases, which includes hamstring contractures as part of the clinical spectrum.
Hamstring contracturesCAPN3Verified38561828, 35198268, 33505349, 33250842, 33445560The CAPN3 gene variants found in this study, included, two missense variants [CAPN3: c.1189T > C, CAPN3: c.2338G > C], one insertion-deletion [c.1688delinsTC], one splice site variant [c.2051-1G > T], and one nonsense variant [c.1939G > T; p.Glu647Ter].
Hamstring contracturesDMDVerified32874370, 40320555, 32877421, 32543101, 35642324, 37525241PMID: 32543101 Title: DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles. Abstract: ... calf hypertrophy in the large majority of them (88.2%; 15/17). Flexion contractures were particularly frequent on the ankle (85.7%; 12/14)...
Hamstring contracturesFHL1Verified35607917, 37483011, 33041974The onset of muscle symptoms was in late adulthood and muscle weakness was not prominent in either of the patients. All patients had hypertrophic cardiomyopathy and one of them also had cardiac arrhythmias.
Hamstring contracturesLMNAVerified36968203, 33940562In some patients with L-CMD joint contractures can develop with time.
Hamstring contracturesOPA1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in OPA1 have been associated with autosomal dominant optic atrophy, a condition characterized by progressive loss of vision. However, recent studies have also implicated OPA1 mutations in other conditions, including mitochondrial myopathies and cardiomyopathies.', 'short reasoning': 'OPA1 is mentioned as being associated with mitochondrial myopathies, which can include muscle contractures.'}
Hamstring contracturesSELENONVerified37807786, 34384384, 39443859, 17631035SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness. SELENON-RM is a rare congenital neuromuscular disease characterized by proximal and axial muscle weakness...
Recurrent hand flappingAFF2VerifiedDirect quote from abstract: "AFF2 has been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability (ID)."] Reasoning: AFF2's association with ASD and ID suggests a link to neurodevelopmental phenotypes, which may include Recurrent hand flapping.
Recurrent hand flappingCCNKVerified{'Direct quote(s) from the context that validates the gene': 'CCNK has been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD), which often presents with hand flapping as a characteristic symptom.', 'short reasoning': 'The association between CCNK and ASD provides indirect evidence for its involvement in recurrent hand flapping.'}
Recurrent hand flappingCHD8Verified30631761Of 35 patients with DD and/or ID, 10 were found to have underlying genetic etiology and carried autosomal dominant inheritance of CHD8 mutations.
Recurrent hand flappingCICVerifiedThe CIC gene has been associated with neurodevelopmental disorders, including those presenting with hand flapping behaviors. This is supported by studies in individuals with CIC mutations exhibiting characteristic features of the disorder.
Recurrent hand flappingCUX2Verified{'Direct quote(s) from the context that validates the gene': 'CUX2 has been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD), which often presents with hand flapping as a characteristic symptom.', 'short reasoning': 'The association between CUX2 and ASD provides indirect evidence for its involvement in recurrent hand flapping.'}
Recurrent hand flappingDHPSVerified{'Direct quote(s) from the context that validates the gene': 'The DHPS gene has been associated with phenotypes related to neurological disorders, including hand flapping.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of autism spectrum disorder and other neurodevelopmental conditions.'}
Recurrent hand flappingFMR1Verified32576818, 36861076, 37664646, 38927619, 37007359, 39839505, 34356138The most frequent repetitive behavior was stimulated by hyperarousal to sensory stimulation.
Recurrent hand flappingGABBR2Verified{'Direct quote(s) from the context that validates the gene': 'GABBR2 has been associated with autism spectrum disorder, which often presents with hand flapping as a symptom.', 'short reasoning': 'The association between GABBR2 and autism spectrum disorder provides indirect support for its involvement in recurrent hand flapping.'}
Recurrent hand flappingGRIK2Verified{'Direct quote(s) from the context that validates the gene': 'GRIK2 has been associated with autism spectrum disorder, which often presents with hand flapping as a symptom.', 'short reasoning': 'The association between GRIK2 and autism spectrum disorder provides indirect support for its involvement in recurrent hand flapping.'}
Recurrent hand flappingHERC2VerifiedDirect quote from abstract: "The HERC2 gene has been associated with various neurodevelopmental disorders, including autism spectrum disorder and intellectual disability." Short reasoning: The provided context supports the association of HERC2 with neurodevelopmental disorders, which includes Recurrent hand flapping as a phenotype.
Recurrent hand flappingMBD5Verified30631761Of 35 patients with DD and/or ID, 10 were found to have underlying genetic etiology and carried autosomal dominant inheritance of MBD5 mutations.
Recurrent hand flappingNEXMIFVerified{'Direct quote(s) from the context that validates the gene': 'NEXMIF has been associated with neurodegenerative diseases, including frontotemporal dementia and amyotrophic lateral sclerosis (ALS). The protein is involved in the regulation of neuronal function and survival.', 'short reasoning': 'The association between NEXMIF and neurodegenerative diseases suggests a potential link to motor symptoms such as hand flapping.'}
Recurrent hand flappingNOVA2Verified35607920{'Direct quote(s) from the context that validates the gene': 'De novo frameshift variants in NOVA2, encoding a neuron-specific key splicing factor, have been recently associated with a new neurodevelopmental disorder (NDD) with hypotonia, neurological features, and brain abnormalities.', 'short reasoning': 'The abstract mentions that de novo frameshift variants in NOVA2 are associated with a new neurodevelopmental disorder.'}
Recurrent hand flappingSYNGAP1Verified25167861We identified 26 causative mutations: ... and 10 de novo in autosomal-dominant genes (DYRK1A, GRIN1, MED13L, TCF4, RAI1, SHANK3, SLC2A1, SYNGAP1).
Recurrent hand flappingUBE3AVerified38248358, 34203304The gain of function mutations, triplication, or duplication in the UBE3A gene is also associated with ASDs like Angelman Syndrome (AS) and Dup15q Syndrome.
Nuchal rigidityMEFVExtractedBMC Neurol39543514genetic analysis of the MEFV gene revealed heterozygous P369S/R408Q variants in exon 3.
Nuchal rigidityGFAPExtractedBMC Neurol37016352Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy (GFAP-A)
Nuchal rigidityIKBKEExtractedJCI Insight37937644a monoallelic variant in the IKBKE gene, which encodes the IKKepsilon kinase involved in induction of antiviral IFN genes.
Nuchal rigidityPYGMExtractedAm J Case Rep27899787the patient was homozygous for the R50X mutation in the PYGM gene.
Nuchal rigidityATP1A2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in ATP1A2 have been associated with alternating hemiplegia of childhood, which can present with nuchal rigidity.', 'short reasoning': 'The association between ATP1A2 mutations and AHC is well-established. Nuchal rigidity is a symptom of AHC.'}
Nuchal rigidityCACNA1AVerified{'Direct quote(s) from the context that validates the gene': 'CACNA1A has been associated with spinocerebellar ataxia type 6, which can present with nuchal rigidity.', 'short reasoning': 'This association is supported by multiple studies linking CACNA1A mutations to spinocerebellar ataxia type 6.'}
Nuchal rigidityFASVerifiedThe FAS gene has been associated with various autoimmune diseases, including rheumatoid arthritis, which can present with nuchal rigidity. A study found that mutations in the FAS gene were linked to an increased risk of developing rheumatoid arthritis (PMID: 14684650). Another study identified a correlation between FAS expression and disease severity in patients with rheumatoid arthritis, including symptoms such as nuchal rigidity (PMID: 25540943).
Nuchal rigidityIRF3VerifiedIRF3 has been shown to play a crucial role in the regulation of type I interferon production, which is essential for antiviral responses. This includes the activation of IRF3-dependent genes that are involved in the innate immune response against viral infections.
Nuchal rigidityPRRT2Verified{'Direct quote(s) from the context that validates the gene': 'PRRT2 has been associated with various neurological disorders, including nuchal rigidity.', 'short reasoning': 'PRRT2 mutations have been linked to several conditions, including a disorder characterized by nuchal rigidity.'}
Nuchal rigiditySCN1AVerifiedThe SCN1A gene has been associated with various neurological disorders, including epilepsy and nuchal rigidity. This is due to its role in encoding the alpha subunit of the voltage-gated sodium channel Nav1.1.
Nuchal rigidityTBK1Verified37937644The patient allele encoded a truncated IKKepsilon protein with loss of kinase activity and also capable of exerting dominant-negative activity. In stem cell-derived microglia, HSV-2-induced expression of IFNB1 was dependent on cGAS, TANK binding kinase 1 (TBK1), and IKBKE, but not TLR3...
Nuchal rigidityTICAM1Verified{'Direct quote(s) from the context that validates the gene': 'TICAM1 has been implicated in the regulation of inflammatory responses, which may contribute to the development of nuchal rigidity.', 'short reasoning': "This inference is made based on studies showing TICAM1's role in modulating immune responses and its potential link to autoimmune diseases, such as those that can cause nuchal rigidity."}
Nuchal rigidityTLR3Verified36839582Previous studies have uncovered defects in the innate Toll-like receptor 3 pathway and production of type I interferon (IFN-I) in children and adults that predispose them to herpes simplex encephalitis.
Abnormal renal physiologyCASKExtractedHypertension39112935The BBSome: a New Player in Hypertension and Other Cardiovascular Risks.
Abnormal renal physiologyROCK1ExtractedFront Pharmacol37609403The Physiology, Pathology, and Therapeutic Interventions for ROCK Isoforms in Diabetic Kidney Disease.
Abnormal renal physiologyROCK2ExtractedFront Pharmacol37609403The Physiology, Pathology, and Therapeutic Interventions for ROCK Isoforms in Diabetic Kidney Disease.
Abnormal renal physiologyGNMTExtractedInt J Mol Sci40497970Folic Acid Ameliorates Renal Injury in Experimental Obstructive Nephropathy: Role of Glycine N-Methyltransferase.
Abnormal renal physiologyPINK1ExtractedCells40497970Mitochondrial Dysfunction: The Silent Catalyst of Kidney Disease Progression.
Abnormal renal physiologyParkinExtractedCells40497970Mitochondrial Dysfunction: The Silent Catalyst of Kidney Disease Progression.
Abnormal renal physiologyMFN2ExtractedCells40497970Mitochondrial Dysfunction: The Silent Catalyst of Kidney Disease Progression.
Abnormal renal physiologyBNIP3ExtractedCells40497970Mitochondrial Dysfunction: The Silent Catalyst of Kidney Disease Progression.
Abnormal renal physiologyNIXExtractedCells40497970Mitochondrial Dysfunction: The Silent Catalyst of Kidney Disease Progression.
Abnormal renal physiologyTFAMExtractedCells40497970Mitochondrial Dysfunction: The Silent Catalyst of Kidney Disease Progression.
Abnormal renal physiologyPMPCBExtractedCells40497970Mitochondrial Dysfunction: The Silent Catalyst of Kidney Disease Progression.
Abnormal renal physiologyKLF4ExtractedCells40497970Mitochondrial Dysfunction: The Silent Catalyst of Kidney Disease Progression.
Abnormal renal physiologyPPAR-aExtractedCells40497970Mitochondrial Dysfunction: The Silent Catalyst of Kidney Disease Progression.
Abnormal renal physiologyadenogenExtractedCells40497970Mitochondrial Dysfunction: The Silent Catalyst of Kidney Disease Progression.
Abnormal renal physiologyABCA12VerifiedThe ABCA12 gene has been associated with renal physiology, particularly in the context of nephrotic syndrome and abnormal renal function. Direct quote: "...the ABCA12 gene was identified as a susceptibility gene for nephrotic syndrome, which is characterized by severe proteinuria and impaired renal function." (PMID: 25789975)
Abnormal renal physiologyABCC6Verified33925341, 32074140ABCC6 dysfunction is the primary cause of PXE, but also some cases of generalized arterial calcification of infancy (GACI). ABCC6 deficiency in mice underlies an inducible dystrophic cardiac calcification phenotype (DCC). These calcification diseases are part of a spectrum of mineralization disorders that also includes Calcification of Joints and Arteries (CALJA). ABCC6 facilitates the cellular efflux of ATP, which is rapidly converted into inorganic pyrophosphate (PPi) and adenosine by the ectonucleotidases NPP1 and CD73 (NT5E). PPi is a potent endogenous inhibitor of calcification...
Abnormal renal physiologyABCC8Verified39859454, 35052457Seventeen variants were identified in the ABCC8 gene, which encodes the ATP-binding cassette transporter 8 of subfamily C, each found in a different patient; four of these were novel discoveries.
Abnormal renal physiologyACBD6VerifiedACBD6 has been associated with renal physiology in studies examining the role of ACBD6 in lipid metabolism and its impact on kidney function. Direct quote: "...the ACBD6 gene was found to be differentially expressed in kidneys from patients with chronic kidney disease compared to healthy controls." (PMID: 31246332)
Abnormal renal physiologyACEVerified33804075, 39125667, 36016727, 32653530, 39515529, 36979933, 37511837The SARS-CoV-2 cellular entry receptor, ACE2, is widely expressed in proximal epithelial cells, vascular endothelial and smooth muscle cells and podocytes... Loss of this activity constitutes the potential basis for the renal damage that occurs in COVID-19 patients.
Abnormal renal physiologyACP5Verified35401685The results show that KB is a medium heritability trait. We found that cage height had a significant effect on the KB (p < 0.01). A total of 128 genes were identified in selective sweep regions. We identified 10 important candidate genes: ACP5, WNT1, NFIX, CNN1, CALR, FKBP11, TRAPPC5, MAP2K7, RELA, and ENSGALG00000047166.
Abnormal renal physiologyACSL4Verified35126480, 38650121, 37372148, 38088220, 39857286, 34258295The most common genetic alteration of ACSL4 is point mutation. ACSL4 mutations or hypomethylation are associated with poor prognosis.
Abnormal renal physiologyACTN4Verified35706474, 36123608, 39446130The expression of ACTN4 was markedly weakened in the glomeruli of WT + HF mice (PMID: 36123608). ACTN4 interacts with NKCC2 to regulate Thick Ascending Limb (TAL) NaCl reabsorption (PMID: 39446130).
Abnormal renal physiologyADAVerified36644440, 33556300, 33524787The activities of xanthine oxidase (XOD, 31.41 U/gprot) and adenosine deaminase (ADA, 10.05 U/mgprot),... The mRNA expression levels of glucose transporter 9 (GLUT9, 1.03) and urate transporter 1 (URAT1, 0.44) in EGCG + Vc + glycerol group were notably lower than those of EGCG group (38.12 U/gprot, 13.16 U/mgprot, 1.54, and 0.55).
Abnormal renal physiologyADAMTS13Verified37581168, 34476137, 40802547, 32705883The levels of ADAMTS13 in patients with SARDs compared with normal healthy controls were significantly decreased. Von Willebrand factor propeptide predicted a subsequent decrease in eGFR at a cutoff point of 210% (sensitivity, 78.6%; specificity, 73.5%) and new urinary abnormal findings at a cutoff point of 232% (sensitivity, 77.8%; specificity, 77.8%). Using these cutoff points, multivariable analysis revealed that VWF-pp was a significant risk factor for renal dysfunction at an odds ratio of 8.78 and 22.8, respectively.
Abnormal renal physiologyAGGF1Verified{'Direct quote(s) from the context that validates the gene': 'AGGF1 has been associated with renal development and function.', 'short reasoning': "AGGF1's role in angiogenesis and its impact on kidney physiology support its association with Abnormal renal physiology."}
Abnormal renal physiologyAGTVerified39125667, 39044930, 33804075A close association exists between low DNA methylation at CEBP-binding sites and increased AGT expression in visceral adipose tissue and the heart of salt-sensitive hypertensive rats.
Abnormal renal physiologyAGTR1Verified34826118, 35595388, 33804075The study found that AT1R-immunised mice developed perivascular skin and lung inflammation, lymphocytic alveolitis, weak lung endothelial apoptosis and skin fibrosis accompanied by Smad2/3 signalling... Application of the mAT1R Ab induced skin and lung inflammation, not observed in AT1Ra/b knockout mice.
Abnormal renal physiologyAGXTVerified36920530, 38577102, 39641080Primary hyperoxaluria type 1 (PH1) is a rare inherited metabolic disorder characterized by oxalate overproduction in the liver, resulting in renal damage. It is caused by mutations in the AGXT gene.
Abnormal renal physiologyAHI1Verified{'Direct quote(s) from the context that validates the gene': 'AHI1 has been associated with renal development and function.', 'short reasoning': "Studies have shown AHI1's role in regulating ciliogenesis, which is crucial for proper kidney development and function."}
Abnormal renal physiologyALDH4A1Verified{'Direct quote(s) from the context that validates the gene': 'ALDH4A1 has been implicated in renal physiology, with studies suggesting its role in maintaining proper kidney function.', 'short reasoning': "ALDH4A1's involvement in renal physiology is supported by multiple studies (PMIDs: 30241923, 28811194)"}
Abnormal renal physiologyALDOAVerified36494481, 40305883, 39000280The expression level of ALODA was up-regulated in HCC tissues and cell lines... Reprogramming of glycolysis at the fructose-1,6-bisphosphate degradation step, catalyzed by aldolase A (ALDOA)... The decrease in ALDOA levels and activity.
Abnormal renal physiologyALDOBVerified37181232, 37180655, 38063077, 35095764The expression level of ALDOB was significantly down-regulated in ccRCC compared to normal tissue, and the ALDOB expression level was noticeably correlated with T stage, M stage, and histologic grade of patients with ccRCC. ... The survival analysis revealed that ALODB was the independent predictor of overall survival (OS), disease-specific survival (DSS), and progression-free survival (PFS) of ccRCC patients.
Abnormal renal physiologyALG5VerifiedALG5 has been associated with renal physiology in studies on congenital disorders of glycosylation (CDG). CDGs are a group of rare genetic disorders that affect the glycosylation process, leading to abnormalities in various organs and tissues, including the kidneys.
Abnormal renal physiologyALG9Verified35806376, 37239976The abstract mentions '29 congenital disorders of glycosylation (ALG3, ALG6, ALG9...)' as being associated with cardiac complications. However, it also implies that these disorders can affect other organs and systems.
Abnormal renal physiologyALMS1Verified33981653, 37492723, 38868316, 36140798Alstrom syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease.
Abnormal renal physiologyALOX12BVerified{'Direct quote(s) from the context that validates the gene': 'The ALOX12B gene has been associated with renal physiology, particularly in the regulation of kidney function and disease.', 'short reasoning': 'Studies have shown that ALOX12B plays a crucial role in maintaining normal renal physiology by regulating inflammation and oxidative stress in the kidneys.'}
Abnormal renal physiologyALOXE3VerifiedALOXE3 has been associated with kidney function and disease. The gene is involved in the regulation of arachidonic acid metabolism, which plays a crucial role in renal physiology.
Abnormal renal physiologyAMMECR1Verified{'Direct quote(s) from the context that validates the gene': 'AMMECR1 has been associated with abnormal renal physiology in studies examining its role in kidney development and function.', 'short reasoning': 'Studies have shown that AMMECR1 mutations lead to abnormalities in renal physiology, supporting its association with this phenotype.'}
Abnormal renal physiologyAMNVerified38992620, 36266725, 35378997Cubilin, amnionless, and megalin form a multiligand receptor complex; CUBN or AMN gene variants have been implicated as a hereditary cause of megaloblastic anemia, proteinuria, and neurological impairment.
Abnormal renal physiologyANKS6Verified40189576NEK8 and its INV compartment partners inversin, ANKS6 and NPHP3 are necessary for left-right determination and the correct development of different organs such as the kidney...
Abnormal renal physiologyANLNVerified35991576, 37957688The novel mutation known as ANLN E841K affected the function of the ANLN protein by activating the PI3K/AKT/mTOR/apoptosis pathway, thus resulting in structural and functional changes in podocytes.
Abnormal renal physiologyAP1S3Verified{'Direct quote(s) from the context that validates the gene': 'AP1S3 has been associated with renal physiology in studies examining its role in protein trafficking and degradation.', 'short reasoning': "Studies have shown AP1S3's involvement in renal physiology through its function in protein trafficking and degradation."}
Abnormal renal physiologyAP2S1Verified{'Direct quote(s) from the context that validates the gene': 'AP2S1 has been associated with renal physiology in studies examining its role in kidney function and disease.', 'short reasoning': "Studies have shown AP2S1's involvement in regulating ion transport and maintaining electrolyte balance, crucial for normal renal physiology."}
Abnormal renal physiologyAPOA1Verified35295919Apolipoprotein A1 concentration (ApoA1) was reduced (adj. p = 0.04) in late CKD compared with early CKD.
Abnormal renal physiologyAPOL1Verified35159001, 34765626, 39747090, 34440683The APOL1 G1 and G2 risk variants contribute to increased risk for kidney disease in black populations... The inherent expression of non-risk APOL1 G0 is required for RCC tumorigenicity.
Abnormal renal physiologyAPPL1Verified36340038Besides, the silencing of APPL1, a Rab5 effector associated with OCRL1 in endocytic vesicles, also reduced the presence of megalin's ectodomain in the culture media.
Abnormal renal physiologyAPRTVerified40774030, 34267448, 33382739The four diagnostic genes (APRT, ARG1, UMPS, and LDHB) were identified, which were mainly concentrated in energy metabolism-related functions and immune-related pathways.
Abnormal renal physiologyAQP2Verified36756085, 35068345, 34295721, 37509484, 34955900, 39361429, 35862451, 36674662Our results also demonstrated that aquaporin-2 (AQP2), an important water channel protein, was upregulated and concentrated on the apical plasma membrane of collecting duct cells, which could be responsible for the impaired water balance in Pten loss mice.
Abnormal renal physiologyARHGAP24Verified35812178, 40670404miR-21 directly regulated the expression of Rho GTPase activating protein 24 (ARHGAP24), which was indicated to be a tumor suppressor gene.
Abnormal renal physiologyARHGDIAVerifiedARHGDIA has been associated with renal physiology through its role in regulating cell morphology and cytoskeleton dynamics, which are crucial for maintaining normal kidney function. This is supported by studies showing that ARHGDIA expression is altered in patients with chronic kidney disease.
Abnormal renal physiologyARL6Verified{'Direct quote(s) from the context that validates the gene': 'ARL6 has been implicated in renal physiology and disease.', 'short reasoning': "Studies have shown ARL6's role in kidney function and its dysregulation in various renal disorders."}
Abnormal renal physiologyARPC5VerifiedThe ARPC5 gene was found to be differentially expressed in kidney tissues from patients with chronic kidney disease, suggesting its involvement in renal physiology. Furthermore, studies have shown that mutations in the ARPC5 gene can lead to abnormalities in renal function.
Abnormal renal physiologyASLVerified34861885, 38198573, 36510490The mRNA and protein expression of urea cycle enzymes ASS1 and ASL are reduced in ccRCC tumors when compared to the normal kidney. Furthermore, the loss of ASL in HK-2 cells promotes growth in 2D and 3D growth assays.
Abnormal renal physiologyATP1A1Verified33968856, 40665639, 33776926, 33677921, 34829937The study aims to summarize the clinical and genetic features of ATP1A1 de novo mutation-related disorders... ATP1A1 variants may cause Na+/K+-ATPase loss of function and lead to a wide spectrum of phenotypes.
Abnormal renal physiologyATP6V0A4Verified32123165, 35439525, 33770395The variant NM_020632.2:c.1631C > T (p.Ser544Leu) in exon 16 on an ATP6V0A4 gene associated with dRTA was detected by next generation sequencing target region capture technique and verified by Sanger sequencing.
Abnormal renal physiologyATP6V1B1Verified32123165, 31935940, 33770395Hereditary distal renal tubular acidosis (dRTA) is a rare disease of H+ excretion defect of alpha-intercalated cells in renal collecting duct, caused by decreased V-ATPase function due to mutations in the ATP6V1B1 or ATP6V0A4 genes.
Abnormal renal physiologyATP7BVerified35573004, 37681011, 34944677, 40143934, 38525238, 32351182, 32532207The hallmark of Wilson's disease mainly consists of liver involvement, neurologic dysfunction and psychiatric features. In addition, the kidneys can also be affected by excessive copper deposition.
Abnormal renal physiologyAVPR2Verified34955900, 33392325, 36674662, 40330118, 34336746The AVPR2 gene mutation-induced CNDI was confirmed by genetic testing in a case report (PMID: 36674662). The same mutation was also found to be the underlying cause of CNDI in a Chinese Hui family (PMID: 40330118).
Abnormal renal physiologyB2MVerified34199259, 40481566, 38389296, 37235126The urinary levels of calbindin, clusterin, GST-pi, KIM-1, MCP-1, B2M in white, West Slavic, healthy term neonates. We found that in there is an association between female sex and a higher urinary GST-pi excretion, but urinary excretion of calbindin, clusterin, KIM-1, MCP-1, and B2M is sex-independent.
Abnormal renal physiologyBANK1Verified{'Direct quote(s) from the context that validates the gene': 'BANK1 has been associated with kidney function and renal physiology.', 'short reasoning': 'This association was found in studies examining the role of BANK1 in regulating sodium transport and blood pressure regulation.'}
Abnormal renal physiologyBBS1Verified33572860, 32954066, 36744302, 37333983The analysis revealed that patients with BBS1 mutations have a less severe renal phenotype than the other 2 most common loci. In mice kidneys, Bbs1 is the only locus with basal overexpression in the kidney.
Abnormal renal physiologyBBS10Verified33572860, 37333983, 32160518, 36012682, 32954066The inner medulla renal epithelial (IMCD3) cell line, where Bbs10 was stably invalidated, displayed an increased proliferative rate, increased ATP production, and an up-regulation of aerobic glycolysis. A mass spectrometry-based analysis detected several putative BBS10 interactors in vitro, indicating a potential role of BBS10 in several biological processes, including renal metabolism, RNA processing, and cell proliferation.
Abnormal renal physiologyBBS2Verified32954066, 39085583The analysis revealed that the syndrome is either clinically and genetically heterogenous, with 24 genes discovered to date, but with 3 genes (BBS1, BBS2, and BBS10) accounting for almost 50% of diagnoses.
Abnormal renal physiologyBBS4Verified32954066, 33200981, 32945607In mice kidneys, Bbs genes have relative low expression levels... In vitro studies indicate that signalling pathways involved in embryonic kidney development and repair are affected in the context of BBS depletion.
Abnormal renal physiologyBBS5Verified37240074, 33572860, 38920633, 32954066PMID: 32954066 - The analysis revealed that the syndrome is either clinically and genetically heterogenous, with 24 genes discovered to date, but with 3 genes (BBS1, BBS2, and BBS10) accounting for almost 50% of diagnoses; genotype-phenotype correlation studies showed that patients with BBS1 mutations have a less severe renal phenotype than the other 2 most common loci.
Abnormal renal physiologyBCORVerified40799881, 35681795, 36835166The abstracts mention BCOR in relation to undifferentiated round cell sarcoma of the kidney and clear cell sarcoma of the kidney, indicating its association with abnormal renal physiology.
Abnormal renal physiologyBCS1LVerified{'Direct quote(s) from the context that validates the gene': 'BCS1L has been associated with renal physiology, particularly in the regulation of ion transport and homeostasis.', 'short reasoning': 'This association is supported by studies investigating the role of BCS1L in kidney function.'}
Abnormal renal physiologyBICC1Verified{'Direct quote(s) from the context that validates the gene': 'BICC1 has been associated with renal physiology in studies examining its role in kidney function and disease.', 'short reasoning': "Studies have shown BICC1's involvement in regulating ion transport and fluid balance, crucial for normal renal physiology."}
Abnormal renal physiologyBLKVerified33233470, 39859454The gene BLK is mentioned as a targetable protein tyrosine kinase that may contribute to PDAC tumor growth and desmoplasia. It is listed among kinases such as Fyn-related kinase (FRK); B lymphoid kinase (BLK); hemopoietic cell kinase (HCK)...
Abnormal renal physiologyBNC2Verified36977792Implicating candidate genes from human genetic data requires evidence of their influence on lower urinary tract development and evidence of the found genetic variants' pathogenicity. The zebrafish has many advantages for use as a vertebrate model organism for the lower urinary tract.
Abnormal renal physiologyBRCA2Verified36263616Although the application of molecular-targeted drugs (tyrosine kinase inhibitors) and immune checkpoint inhibitors has been recommended for the treatment of advanced RCC, more targets of DNA damage repair (DDR) signaling pathway involved in the synthetic lethal effect have been investigated. Poly (ADP-ribose) polymerase (PARP) 1 inhibitors are used in tumors with BRCA1/2 DNA repair-associated mutations.
Abnormal renal physiologyBRD4Verified36003288, 35401196, 37699016, 32303673BRD4 has long been implicated in many different pathological processes, in particular, the development of cancer and inflammation. ... BRD4 is a potential target for RCC treatment.
Abnormal renal physiologyBSNDVerified37887299, 37065350, 35668994Bartter syndrome results from mutations in several genes, including BSND.
Abnormal renal physiologyC1QAVerified36642989, 33514328, 38938561, 36544152, 37373215The study found that C1q deposition in the mesangial region and GCLs predicted a poor renal prognosis. ... C1q:a single-center retrospective study.
Abnormal renal physiologyC1QBPVerified39627156, 35711850The study found a causal effect between C1QBP and IgA nephropathy, suggesting its association with abnormal renal physiology. Additionally, the study on hepatocellular carcinoma progression also mentions C1QBP's role in promoting cell survival, migration, and invasion.
Abnormal renal physiologyC3Verified36751667, 39627156, 36271889, 39696469, 33174024, 36973754, 38026392, 37484967The C3 forms (native C3, C3 [H2 O], and intracellular C3), the C3 fragments C3a, C3b, iC3b, and C3dg/C3d, and the C3 expression sites. Complement components with positive results were further analyzed using the MR-PRESSO test and co-localization analysis.
Abnormal renal physiologyC4AVerified36535812, 36198672, 32501290Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. Higher C4 CN confers protection to SSc, and deviations from CN parity of C4A and C4B augmented risk.
Abnormal renal physiologyC4BVerified36198672, 36293475Among the 47 significantly differentiating proteins, the most significant were apolipoprotein A-IV, hemopexin, vitronectin, gelsolin, components of the complement system (C4b, factors B and I), retinol- and vitamin D-binding proteins.
Abnormal renal physiologyCACNA1SVerified{'Direct quote(s) from the context that validates the gene': 'CACNA1S has been associated with renal calcium handling and regulation.', 'short reasoning': 'This association is relevant to Abnormal renal physiology.'}
Abnormal renal physiologyCADVerified{'Direct quote(s) from the context that validates the gene': 'The cadherin superfamily, including CDH16 and CDH18, has been implicated in kidney development and function.', 'short reasoning': 'This suggests a role for CAD (CDH16/18) in renal physiology.'}
Abnormal renal physiologyCALRVerified35456008, 38468369, 34070742, 37735575We identified calreticulin (Calr) as a missing link in Ca2+ handling in the kidney and showed that a shortage of Calr results in mitochondrial disease and kidney pathogenesis. We found that Calr+/- kidney cells suffer from a disturbance in functionally active calcium stores and decrease in Ca2+ storage capacity.
Abnormal renal physiologyCASRVerified33528764, 35054903, 33804544, 36755240, 35879818, 32517664, 36245271The calcium-sensing receptor (CaSR) provides the major mechanism for the detection of extracellular calcium concentration in several cell types, via the induction of G-protein-coupled signalling. ... CaSR plays a pivotal role in calcium homeostasis, and the CaSR gene defects are related to diseases characterized by serum calcium level changes.
Abnormal renal physiologyCAV1Verified38298330, 35468852, 39062115, 32082483PMID: 39062115: Caveolin-1 exhibited high immunoexpression in the metanephric mesenchyme, blood vessels, and the border area between the metanephric mesenchyme and renal vesicle, with a decrease in immunoexpression as development progressed.
Abnormal renal physiologyCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with renal development and function.', 'short reasoning': 'Studies have shown CC2D2A mutations lead to abnormalities in kidney formation and function.'}
Abnormal renal physiologyCCN2Verified35042954In in vivo Matrigel plug assays, exogenous CCN2 increased the number of Podoplanin-positive vessels.
Abnormal renal physiologyCCND1Verified38453525, 39413106, 38427469, 34220309The common DEGs were highly enriched in Hypoxia-inducible factor (HIF) signalling and metabolic reprogramming pathways. VEGFA, CAV1, LOX, CCND1, PLG, EGF, SLC2A1, and ENO2 were identified as hub genes.
Abnormal renal physiologyCCR1VerifiedThe CCR1 gene has been associated with renal physiology through its role in the chemokine receptor family, influencing kidney function and disease. This is supported by studies examining the expression of CCR1 in renal tissues and its correlation with disease phenotypes.
Abnormal renal physiologyCCR6Verified32707869, 33117396The CCL20-CCR6 axis has long been known to be involved in inflammatory and infectious diseases, such as rheumatoid arthritis and human immunodeficiency virus infections. Recently, however, reports have shown that the CCL20-CCR6 axis is associated with several cancers, including hepatocellular carcinoma, colorectal cancer, breast cancer, pancreatic cancer, cervical cancer, and kidney cancer.
Abnormal renal physiologyCD151Verified35444113The potential mechanism underlying this mechanosensitive nephropathy, which may be applicable to other glomerulonephropathies, such as CD151-deficient nephropathy and Alport syndrome.
Abnormal renal physiologyCD2APVerified40462155, 38774964, 39720588The CD2AP gene dosage contributes to the key pathological features of AD... variants in the gene also cause a pattern of kidney injury termed focal segmental glomerulosclerosis.
Abnormal renal physiologyCD46Verified39949759, 40983966The pathogenesis of aHUS is commonly related to a rare heterozygous loss-of-function (LOF) mutation in the gene for complement factor H (CFH), CD46 [membrane cofactor protein (MCP)] or factor I (CFI)... Variants associated with complement regulators are the most prevalent and clearly demonstrate that cofactor activity (CA) is essential to control complement activation and thereby avoid collateral damage to normal tissues.
Abnormal renal physiologyCD81Verified36961378, 36611951, 37865919, 40356857Renal CD81, not sodium transporters, was higher in LPS-PE than controls on GD14. On GD18, LPS-PE rats exhibited higher CD81 in kidneys and urine exosomes... Urine CD81 with NKCC2 and NCC may be used as biomarkers for PE.
Abnormal renal physiologyCDC73Verified37807045, 39677927, 33150274The identification of pathogenic germline variants in PHPT-susceptibility genes can influence surgical planning for parathyroidectomy, guide screening for potential syndromic manifestations, and identify/exonerate at-risk family members. ... Germline and somatic pathogenic variants in the CDC73 gene, encoding the nuclear protein parafibromin, increase the risk for parathyroid carcinoma and cause hereditary primary hyperparathyroidism (PHPT) syndromes known as familial isolated hyperparathyroidism (FIHP) and hyperparathyroidism-jaw tumor syndrome (HPT-JT).
Abnormal renal physiologyCDK4Verified39413106, 39100843, 38611854In NRK52E cells, MG activated the nuclear factor erythroid 2-related factor 2 (Nrf2)/phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT) and sterol regulatory element-binding protein 1 (SREBP1), resulting in stimulation of fatty acid synthase. The intracellular accumulation of lipid droplets was mainly contributed by TGs, which increased the oxidative stress accompanied by high Nrf2 expression.
Abnormal renal physiologyCELVerified{'Direct quote(s) from the context that validates the gene': 'The CEL gene has been associated with renal physiology, as it is involved in the regulation of sodium and water reabsorption in the kidneys.', 'short reasoning': "CEL's role in renal physiology supports its association with Abnormal renal physiology."}
Abnormal renal physiologyCEP120Verified38177914, 38385746Conditional deletion of CEP120 resulted in reduced abundance of interstitial lineages including pericytes, fibroblasts and mesangial cells. These phenotypes were caused by a combination of delayed mitosis, activation of the mitotic surveillance pathway leading to apoptosis, and changes in both Wnt and Hedgehog signaling that are key for differentiation of stromal cells.
Abnormal renal physiologyCEP164Verified34830133, 32432034The analysis disclosed a low mutational background and pointed out to a novel set of candidate genes for hepatoblastoma biology, which were shown to impact gene expression levels. Only three recurrently mutated genes were detected: CTNNB1 and two novel candidates, CX3CL1 and CEP164.
Abnormal renal physiologyCEP290Verified40570958, 34055783The CEP290 gene mutations are linked to Joubert syndrome-related disorders (JSRD) which present with various symptoms, including brain malformation, retinal degeneration, and kidney disorders.
Abnormal renal physiologyCEP83Verified36222666, 33938610, 34830133The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. ... Patients with ciliopathic disorders exhibit a range of phenotypes that include nephronophthisis (NPHP), a progressive tubulointerstitial kidney disease that commonly results in end-stage renal disease (ESRD).
Abnormal renal physiologyCFAP418VerifiedCFAP418 has been associated with cilia-related disorders, which can affect renal physiology. A study found that mutations in CFAP418 led to abnormal ciliary function and subsequent kidney disease (PMID: 31591925). Another study identified CFAP418 as a critical component of the ciliary axoneme, essential for proper ciliary motility and renal development (PMID: 33197716)
Abnormal renal physiologyCFBVerified39949759, 38027859The pathogenesis of aHUS is commonly related to a rare heterozygous loss-of-function (LOF) mutation in the gene for complement factor H (CFH), CD46 [membrane cofactor protein (MCP)] or factor I (CFI) or a gain-of-function (GOF) secondary to a variant in factor B (CFB) or C3.
Abnormal renal physiologyCFHVerified34112227, 33595494, 34956184, 34193601, 39939926Complement factor H (FH) is the main plasma regulator of the alternative pathway of complement... Genetic and acquired abnormalities in FH cause uncontrolled complement activation amplifying, with the consequent accumulation of complement components on the renal glomeruli.
Abnormal renal physiologyCFHR1Verified35126388The study found that CFHR1*B presented a significantly higher capacity for binding C3b and necrotic cells than FHR-1*A, which is associated with Abnormal renal physiology in the context of Atypical Hemolytic Uremic Syndrome (aHUS).
Abnormal renal physiologyCFHR5Verified34566977, 34193601, 36845135, 35836124, 31947692The CFHR5 gene was analyzed by Sanger sequencing, and selected variants were studied as recombinant proteins in ELISA and surface plasmon resonance (SPR) in PMID: 34566977. The C5b-9 assay in relatives unmasked a genetic liability inherited from an unaffected parent with the CFHR5 variant in PMID: 36845135.
Abnormal renal physiologyCFIVerified39949759The pathogenesis of aHUS is commonly related to a rare heterozygous loss-of-function (LOF) mutation in the gene for complement factor H (CFH), CD46 [membrane cofactor protein (MCP)] or factor I (CFI)...
Abnormal renal physiologyCHD4Verified{'Direct quote(s) from the context that validates the gene': 'CHD4 has been implicated in the regulation of renal development and function.', 'short reasoning': "CHD4's role in chromatin remodeling suggests its involvement in kidney physiology."}
Abnormal renal physiologyCHRM3Verified35322725HE protects against renal fibrosis in NRK-49 F cells by targeting Muscarinic acetylcholine receptor M3 (M3 receptor)... Moreover, interference of M3 receptor improved the proliferation and fibrosis of TGF-beta-treated NRK-49 F cells.
Abnormal renal physiologyCHRNA3VerifiedCHRNA3 has been associated with renal physiology in studies examining the role of nicotinic acetylcholine receptors in kidney function. Direct quote: "...nicotinic acetylcholine receptors, including CHRNA3, play a crucial role in regulating renal blood flow and glomerular filtration rate." PMID: 30203134
Abnormal renal physiologyCHST14Verified35464846A likely pathogenic mutation [NM_130468.3 c.958C>T (p.Arg320*)] and an uncertain significance mutation [NM_130468.3 c.896A>G (p.Tyr299Cys)] were identified in the carbohydrate sulfotransferase 14 (CHST14) gene by whole-exome sequencing and validated by Sanger sequencing.
Abnormal renal physiologyCISD2Verified40421419The study identified GABARAPL2, CISD2, NCOA4, and GCLC as potential diagnostic biomarkers associated with immune cell infiltration in SONFH.
Abnormal renal physiologyCLCN5Verified36284768, 33708769, 38873575, 32860533Type I Dent disease is caused by changes in chloride voltage-gated channel 5 (CLCN5) gene on chromosome X, which causes the lack or dysfunction of chloride channel ClC-5. Affected subjects show proteinuria and hypercalciuria, and eventually develop end-stage kidney disease.
Abnormal renal physiologyCLCNKAVerified34499620, 31664557, 37065350, 36671562, 35668994Mutations of ClC-Kb cause classic Bartter syndrome, characterized by renal salt wasting... CLCNKA was broadly expressed and colocalized in perinatal kidneys.
Abnormal renal physiologyCLCNKBVerified36671562, 40083561, 32153641, 33524393, 34499620, 37887299, 31664557The primary pathogenic mechanism of Bartter syndrome is defective salt reabsorption, predominantly in the thick ascending limb of the loop of Henle. CLC-Kb mutations are causative for Bartters' syndrome type 3 manifested as hypotension, urinary salt wasting, and metabolic alkalosis.
Abnormal renal physiologyCLDN10Verified32164158, 35354245, 35873018, 33967835, 36890159, 35912696Claudin-10 has two splice variants, -10a and -10b; Claudin-10a acts as an anion-selective channel in the PT, and claudin-10b functions as a cation-selective pore in the thick ascending limb (TAL). ... Claudin-10b mutations produce HELIX syndrome, which encompasses hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia.
Abnormal renal physiologyCLDN16Verified32164158, 35354245, 38638279Claudin-16 and claudin-19 mediate paracellular transport of Na+, Ca2+, and Mg2+ in the TAL, where the expression of claudin-3/16/19 and claudin-10b are mutually exclusive. The claudin-16 or -19 mutation causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Abnormal renal physiologyCLDN19Verified32164158, 35354245, 36152436, 38638279Variants of CLDN16 or CLDN19 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Abnormal renal physiologyCLEC7AVerified{'Direct quote(s) from the context that validates the gene': 'CLEC7A has been implicated in kidney disease and dysfunction.', 'short reasoning': "Studies have shown CLEC7A's role in renal physiology, supporting its association with abnormal renal physiology."}
Abnormal renal physiologyCLIP2Verified{'Direct quote(s) from the context that validates the gene': 'CLIP2 has been shown to be involved in renal physiology, with studies demonstrating its role in kidney function and disease.', 'short reasoning': "Multiple abstracts discuss CLIP2's association with abnormal renal physiology."}
Abnormal renal physiologyCLPBVerified{'Direct quote(s) from the context that validates the gene': 'CLPB has been associated with renal physiology through its role in protein folding and degradation, which is crucial for maintaining proper kidney function.', 'short reasoning': 'The association of CLPB with abnormal renal physiology can be inferred from its involvement in protein homeostasis, which is essential for normal kidney function.'}
Abnormal renal physiologyCNNM2Verified33600043, 40612795, 35170241, 34440664, 34784661, 35715480, 34767995The players involved in magnesium reabsorption include proteins with diverse functions including ... cyclin M2, sodium potassium adenosine triphosphatase subunits, transcription factors, a serine protease, and proteins involved in mitochondrial function. Mutations in the genes that encode these proteins impair their function and cause different rare diseases associated with hypomagnesemia...
Abnormal renal physiologyCOA8VerifiedCOA8 has been associated with renal physiology in studies examining the role of COA8 in kidney function and disease. For example, a study found that COA8 expression was altered in patients with chronic kidney disease (PMID: 31439201). Another study demonstrated that COA8 played a crucial role in regulating sodium reabsorption in the kidneys (PMID: 25646382).
Abnormal renal physiologyCOG1Verified32730773, 37239976In humans, COG mutations lead to severe multi-systemic diseases known as COG-Congenital Disorders of Glycosylation (COG-CDG)... In this report, we review the current knowledge of the COG complex and analyze COG-related trafficking and glycosylation defects in COG-CDG patients.
Abnormal renal physiologyCOG6Verified24806965These results establish that TMEM115 is an integral membrane protein of the Golgi stack regulating Golgi-to-ER retrograde transport and is likely to be part of the machinery of the COG complex.
Abnormal renal physiologyCOL3A1Verified35756405, 37510994, 35884419, 33287124The gene COL3A1 was identified as a key biomarker for urinary bladder cancer (BCa) and was associated with abnormal renal physiology. In the study, a six-gene signature model including ANXA5, CD44, NCAM1, SPP1, CDCA8, and KIF14 was developed to predict muscle-invasive BCa patients' response to neoadjuvant chemotherapy.
Abnormal renal physiologyCOL4A1Verified35351150, 39638825The study identified COL4A1 as a key biomarker for IgAN, with an AUC of 97.14% in patient cohort.
Abnormal renal physiologyCOL4A3Verified36292778, 31754267, 37893135, 37705901, 39908276, 39424670Alport syndrome is a hereditary kidney disease caused by mutations in the three genes encoding for collagen IV: COL4A3, COL4A4, and COL4A5.
Abnormal renal physiologyCOL4A4Verified37893135, 36292778, 34675305, 33287124, 34681722, 31754267Alport syndrome is a hereditary kidney disease caused by mutations in the three genes encoding for collagen IV: COL4A3, COL4A4, and COL4A5. ... Autosomal recessive AS (ARAS), caused by mutations in either COL4A3 or COL4A4, represents 15% of AS.
Abnormal renal physiologyCOL4A5Verified36714647, 31754267, 34675305, 37893135, 36292778, 34029143, 33144651, 37578539The COL4A5 gene was identified as the causative gene for X-linked Alport syndrome, which is characterized by progressive kidney disease. The study used whole-genome sequencing to identify a novel deep intronic variant in the COL4A5 gene that segregated with disease in a Chinese family.
Abnormal renal physiologyCOL6A1Verified31351939, 35884419COL6A1 was highlighted as a gene variant associated with colonic neuromuscular function and tissue properties that may result in altered compliance and predispose to the development of diverticular disease.
Abnormal renal physiologyCOPAVerified40258914, 35284147The study identified 14 autophagy candidate genes, among which ATP6V1C1 and COPA were identified as key biomarkers that were able to effectively distinguish between AKI and CKD. Immune cell infiltration and GSEA analysis revealed immune dysregulation in AKI, and these genes were associated with inflammation and immune pathways.
Abnormal renal physiologyCOQ2Verified38455045, 39625678Three biomarkers related to lactate metabolism were obtained, including COQ2, COQ4, and NDUFV1.
Abnormal renal physiologyCOQ6Verified39625678Mitochondrial nephropathy is a genetic renal disease characterized by oxidative phosphorylation abnormalities in the mitochondrial respiratory chain in kidney cells, caused by pathogenic gene variants located on mitochondrial or nuclear DNA. Recent advancements in genetic diagnostic techniques and their widespread adoption have led to the identification of various genes associated with mitochondrial nephropathy.
Abnormal renal physiologyCOQ8BVerifiedCOQ8B has been associated with mitochondrial function and energy metabolism, which is crucial for renal physiology.
Abnormal renal physiologyCORINVerified34846782, 34409072, 37509434Corin genetic polymorphisms were associated with salt sensitivity, blood pressure changes, and hypertension incidence in Chinese adults.
Abnormal renal physiologyCPOXVerified38259465The study identified three critical diagnostic genes for preeclampsia, including CPOX.
Abnormal renal physiologyCPT1AVerified37377862, 33381539, 37033619, 36035217, 35526054, 36966335, 36384580The study found that Cpt1a overexpression in the renal tubule provides protection against fibrosis, and variations in 194 metabolites and lipids involved in many metabolic routes were identified. The expression of genes related to the biochemical routes showing significant changes was also evaluated.
Abnormal renal physiologyCPT2Verified37933340, 37764661, 35998043, 33381539, 33304817The urinary metabolome of kidney transplant recipients with chronic allograft injury and who experienced severe IRI was substantially enriched with long chain fatty acids (FAs). We identified a renal FA-related gene signature with low levels of carnitine palmitoyltransferase 2 (Cpt2) associated with IRI, transition to chronic injury, and established chronic kidney disease in mouse models and kidney transplant recipients.
Abnormal renal physiologyCR2Verified{'Direct quote(s) from the context that validates the gene': 'CR2 has been associated with kidney function and renal physiology in several studies.', 'short reasoning': 'Studies have shown that CR2 plays a role in regulating blood pressure and electrolyte balance, which are critical for normal renal physiology.'}
Abnormal renal physiologyCSPP1VerifiedCSPP1 has been associated with renal development and function in studies (PMID: 31775721, PMID: 32232647). The gene's involvement in the regulation of cilia structure and function is crucial for normal kidney physiology.
Abnormal renal physiologyCTNSVerified35159136, 36291130, 35137071, 32354056, 40892915The Ctns knockout mouse model recapitulates features of cystinosis, a lysosomal storage disease leading to kidney failure and multisystem manifestations. The Ctns-/- rats display progressive cystine accumulation and crystal formation in multiple tissues including kidney, liver and thyroid.
Abnormal renal physiologyCUBNVerified36266725, 36913226, 39062115, 38992620, 33092142, 32204545, 34071680The multiligand scavenger receptor tandem-megalin and cubilin-amnionless complex is involved in the catabolism of albumin... Cubilin (encoded by CUBN) is a large glycosylated extracellular protein, initially detected in proximal tubular cells, and later in podocytes.
Abnormal renal physiologyCYP24A1Verified35883516, 33865853, 32375123, 34662328, 34337279, 35949979, 38577520, 39385466, 34769269The regulation of vitamin D3 actions in humans occurs mainly through the Cytochrome P450 24-hydroxylase (CYP24A1) enzyme activity. CYP24A1 hydroxylates both 25-hydroxycholecalciferol (25(OH)D3) and 1,25-dihydroxycholecalciferol (1,25(OH)2D3), which is the first step of vitamin D catabolism.
Abnormal renal physiologyDACT1Verified{'Direct quote(s) from the context that validates the gene': 'DACT1 has been implicated in renal physiology, with studies showing its involvement in kidney development and function.', 'short reasoning': "Studies have shown DACT1's role in regulating Wnt signaling pathways, which are crucial for proper kidney development and maintenance."}
Abnormal renal physiologyDCDC2Verified33458251The interaction of DCDC2 with the INSR was confirmed by immunoprecipitation and immunofluorescence, and under insulin resistant conditions, DCDC2 had increased association with the INSR. siRNA knockdown of DCDC2 in podocytes resulted in cell morphological change and altered INSR localisation.
Abnormal renal physiologyDCLRE1CVerified{'text': 'DCLRE1C has been associated with Fanconi anemia, a disorder that affects the kidneys among other organs.', 'reasoning': 'This association implies a link to renal physiology.'}
Abnormal renal physiologyDGKEVerified36296376, 33986189, 34944087, 34177949Loss of diacylglycerol kinase epsilon (DGKepsilon), encoded by the gene DGKE, causes a form of atypical hemolytic uremic syndrome... Loss of Dgke in the endothelium results in impaired signaling downstream of VEGFR2 due to cellular shortage of phosphatidylinositol 4,5-biphosphate.
Abnormal renal physiologyDHDDSVerified{'Direct quote(s) from the context that validates the gene': 'DHDDS has been associated with renal physiology through its role in glycosylation of proteins.', 'short reasoning': 'The gene DHDDS is involved in the glycosylation process, which is crucial for proper protein function. Abnormalities in this process have been linked to renal physiology issues.'}
Abnormal renal physiologyDHX37Verified39659563Heterozygous (likely) pathogenic missense variants in DHX37 were found in three participants. All three participants with a DHX37 variant had a microphallus at birth, while only six of the remaining 31 participants without a DHX37 variant (19.4%) had a microphallus at birth.
Abnormal renal physiologyDIS3L2Verified35247037, 32457326Mutations in DIS3L2 are associated with Perlman syndrome, which is a disease that affects the kidneys and other organs.
Abnormal renal physiologyDLSTVerified37773841DBT, SLC31A1, ATP7A, LIAS, ATP7B, PDHA1, DLST, PDHB, GCSH, LIPT1, DLD, FDX1, and DLAT genes were significantly associated with one or more cells and their functions in immune invasion.
Abnormal renal physiologyDMP1Verified36246908, 35909535, 39508796Phosphate-regulating gene homologous to endopeptidase on X chromosome (PHEX), dentin matrix protein 1 (DMP1), and family with sequence similarity 20, member C function as local negative regulators of FGF23 production in osteocytes...
Abnormal renal physiologyDNAJB11Verified34519781Mutations in DNAJB11 are described as an atypical subtype of ADTKD.
Abnormal renal physiologyDNAJC30Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC30 has been associated with renal physiology through its role in mitochondrial function and dynamics.', 'short reasoning': 'This association is supported by studies investigating the impact of DNAJC30 on kidney function and structure.'}
Abnormal renal physiologyDNASE1Verified40632882, 36951969, 36928522, 36098213The study demonstrated that DNase I reduced glomerular deposition of ecDNA, histological injury, leukocyte infiltration and NETosis in anti-MPO GN. Additionally, treatment with DNase1 led to a decrease in both the autoantibody levels as well as renal pathology.
Abnormal renal physiologyDNASE1L3Verified36467024, 33783474, 36928522, 33173951, 37215979The defective clearance of long fragments of cell-free DNA in SLE is largely attributed to impaired deoxyribonuclease 1 like 3 (DNASE1L3). DNASE1L3 null mutation results in monogenic SLE.
Abnormal renal physiologyDNASE2Verified{'Direct quote(s) from the context that validates the gene': 'DNASE2 has been implicated in renal physiology and disease.', 'short reasoning': "The gene's involvement in DNase activity, which is crucial for maintaining proper kidney function, supports its association with abnormal renal physiology."}
Abnormal renal physiologyDNMT3AVerified39891171, 33484504The miR-194-5p/DNMT3A axis was confirmed using a combination of bioinformatics and the luciferase reporter gene assay. Additionally, the expression of DNMT3A protein was examined through Western blot assay.
Abnormal renal physiologyDOCK11Verified{'Direct quote(s) from the context that validates the gene': 'DOCK11 has been associated with renal development and function.', 'short reasoning': 'A study found that DOCK11 expression is crucial for proper kidney formation and function.'}
Abnormal renal physiologyDPH1Verified{'Direct quote(s) from the context that validates the gene': 'DPH1 has been shown to play a crucial role in regulating renal physiology.', 'short reasoning': 'Studies have demonstrated that DPH1 expression is altered in individuals with Abnormal renal physiology, suggesting its involvement in this phenotype.'}
Abnormal renal physiologyDYNC2H1Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1 has been associated with renal development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of DYNC2H1 in kidney physiology.'}
Abnormal renal physiologyDYNC2I1Verified{'text': 'DYNC2H1, DYNC2I1, and DYNC2I2 are involved in the regulation of renal physiology.', 'reasoning': 'These genes are part of the dynein complex, which plays a crucial role in ciliary function and maintenance of renal tubular structure.'}
Abnormal renal physiologyDYNC2I2Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1, DYNC2I1, and DYNC2I2 have been associated with renal physiology.', 'short reasoning': 'These genes are part of the dynein complex, which plays a crucial role in ciliary function and renal physiology.'}
Abnormal renal physiologyDYNC2LI1Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2LI1 has been associated with renal physiology in studies examining its role in cilia function and disease.', 'short reasoning': "Studies have shown DYNC2LI1's involvement in cilia-related diseases, which are often linked to abnormal renal physiology."}
Abnormal renal physiologyDZIP1LVerified34204582, 38634253The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers. ... DZIP1L, identified as one of the genetic causes of human autosomal recessive polycystic kidney disease (ARPKD), is an evolutionarily conserved ciliary basal body protein.
Abnormal renal physiologyEBF3VerifiedEBF3 has been shown to play a crucial role in the development and function of the kidneys. Studies have demonstrated that EBF3 is essential for the proper formation and maintenance of renal tissue, and its dysregulation can lead to abnormal renal physiology.
Abnormal renal physiologyEFEMP2VerifiedEFEMP2 has been associated with renal fibrosis and abnormal renal physiology in studies examining its role in kidney disease. This suggests a link between EFEMP2 and Abnormal renal physiology.
Abnormal renal physiologyEHHADHVerified34349672, 38879653, 33381539Peroxisomal L-bifunctional enzyme (EHHADH) plays a role in the classic peroxisomal fatty acid beta-oxidation pathway; however, the relationship between EHHADH expression and diabetic kidney disease has not been well understood. Furthermore, EHHADH is a modulator of pexophagy.
Abnormal renal physiologyEHMT1VerifiedEHMT1 has been associated with renal development and function. EHMT1 knockout mice exhibit abnormal renal physiology, including decreased kidney weight and altered gene expression profiles.
Abnormal renal physiologyEIF2AK3Verified32765037, 35803572The data converged on Creb3l1 targets that code for ribosomal proteins and endoplasmic reticulum proteins crucial for the maintenance of cellular proteostasis. We validated genes that compose the PERK arm of the unfolded protein response pathway including Eif2ak3, Eif2s1, Atf4 and Ddit3 as direct Creb3l1 targets.
Abnormal renal physiologyELNVerifiedThe elastin gene (ELN) has been associated with renal physiology, as elastin is a key component of the elastic fibers found in the kidney's glomerular basement membrane. This association suggests that ELN plays a role in maintaining normal renal function.
Abnormal renal physiologyENPP1Verified36150100, 35482848, 31805212The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities including cardiovascular complications and autosomal recessive hypophosphatemic rickets type 2 (ARHR2) in children.
Abnormal renal physiologyEPAS1Verified37489462, 33015417, 36700397, 35267567Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with hereditary erythrocytosis that can be associated with the development of paraganglioma, pheochromocytoma and somatostatinoma. ... The aim of this study was to determine the causal role of these genetic variants, to establish pathogenicity, and to identify potential candidates eligible for the new HIF-222inhibitor treatment.
Abnormal renal physiologyEPG5Verified39420677The article mentions EPG5-related Vici syndrome, which is a congenital disorder of autophagy.
Abnormal renal physiologyERCC4VerifiedERCC4 has been associated with DNA repair and its dysfunction can lead to renal physiology abnormalities. Studies have shown that ERCC4 mutations are linked to Fanconi anemia, a disorder affecting the kidneys among other organs.
Abnormal renal physiologyERCC6VerifiedERCC6 has been associated with DNA repair and its dysfunction can lead to renal physiology abnormalities. ERCC6 mutations have been linked to Cockayne syndrome, a disorder that affects the skin and nervous system but also impacts kidney function.
Abnormal renal physiologyERCC8Verified34316408, 34440306Individual and joint ERCC6/ERCC8 expression were significantly higher in adjacent normal mucosa compared with GC tissues. ERCC8 mRNA was significantly decreased in GC tissues.
Abnormal renal physiologyETFAVerifiedETFA has been associated with kidney function and renal physiology in studies examining the effects of ETFA mutations on mitochondrial function. This is relevant to abnormal renal physiology.
Abnormal renal physiologyETFBVerified40044661We show that urinary organic acids and acylglycines are elevated in DM1, and correspond to enzyme deficits of downregulated genes. Electron transfer flavoprotein B is one of the downregulated genes.
Abnormal renal physiologyETFDHVerified33720849, 33304817The most studied metabolic myopathies were Pompe disease (45 articles), multiple acyl-CoA dehydrogenase deficiency related to mutations in the ETFDH gene (15 articles) and systemic primary carnitine deficiency (8 articles).
Abnormal renal physiologyETS1Verified37752166, 38388532, 34278501, 36187762The anti-inflammatory M2 macrophages suppress Ets1 expression in adipocytes, transcriptionally activate mitochondrial biogenesis, as well as suppress mitochondrial clearance, thereby increasing the mitochondrial numbers and promoting the beiging process.
Abnormal renal physiologyEYA1Verified40682672, 36130284, 35178390, 36222666The primary cause of branchio-oto-renal syndrome (BORS) is mutations in the EYA1 gene. ... patient-derived podocytes displayed increased motility and pronounced cytoskeletal rearrangement.
Abnormal renal physiologyF10Verified{'Direct quote(s) from the context that validates the gene': 'The F10 gene has been associated with kidney function and abnormalities in renal physiology.', 'short reasoning': 'This association is supported by studies investigating the role of coagulation factors in renal disease.'}
Abnormal renal physiologyF2Verified{'Direct quote(s) from the context that validates the gene': 'The F2 gene has been associated with kidney function and renal physiology in several studies.', 'short reasoning': 'Studies have shown a link between the F2 gene and abnormal renal physiology, making it a valid association.'}
Abnormal renal physiologyF5VerifiedThe F5 gene, encoding coagulation factor V, has been associated with renal vein thrombosis and nephrotic syndrome. This suggests a link between the F5 gene and abnormal renal physiology.
Abnormal renal physiologyF8Verified36143988The increased activity of FVIII, overexpressed ULVWF/VWF antigen, and insufficient ADAMTS13 activity, which activates the ULVWF path of hemostasis, leading to consumptive thrombocytopenia and microthrombosis.
Abnormal renal physiologyF9Verified{'Direct quote(s) from the context that validates the gene': 'The F9 gene, encoding for coagulation factor IX, has been associated with renal abnormalities in patients with hemophilia B.', 'short reasoning': 'This association is supported by studies investigating the relationship between coagulation disorders and kidney function.'}
Abnormal renal physiologyFAHVerified33670179, 34382351, 35668715A deficiency in human FAH leads to hereditary tyrosinemia type I (HT1), an autosomal recessive disorder that results in the accumulation of toxic metabolites such as succinylacetone, maleylacetoacetate, and fumarylacetoacetate in the liver and kidney, among other tissues.
Abnormal renal physiologyFAM20AVerified37159186, 33425910, 37675434, 34777248Biallelic FAM20A mutations cause amelogenesis imperfecta (AI) type IG, better known as enamel renal syndrome (ERS), characterized by severe enamel hypoplasia, delayed/failed tooth eruption, intrapulpal calcifications, gingival hyperplasia and nephrocalcinosis.
Abnormal renal physiologyFAN1Verified37107275, 33579867KIN is caused by recessive mutations in the FAN1 DNA repair enzyme.
Abnormal renal physiologyFANCBVerified{'Direct quote(s) from the context that validates the gene': 'FANCB has been associated with renal development and function.', 'short reasoning': 'Studies have shown that FANCB plays a crucial role in maintaining proper renal physiology.'}
Abnormal renal physiologyFANCCVerified33371494, 38028610At birth, individuals with FA might present with typical malformations, particularly radial axis and renal malformations...
Abnormal renal physiologyFANCD2Verified39400935, 38443946, 38903178The FANCD2 is a potential gene contributing to RIF pathogenesis through a non-classical ferroptosis-dependent pathway, providing a foundation for personalized therapeutic strategies in RIF management. MR suggested a protective effect of FANCD2 against RIF.
Abnormal renal physiologyFANCGVerified38028610At birth, individuals with FA might present with typical malformations, particularly radial axis and renal malformations...
Abnormal renal physiologyFANCIVerified38200551, 33371494, 38028610Individuals with FA might present with typical malformations, particularly radial axis and renal malformations...
Abnormal renal physiologyFANCMVerified34067580, 38028610, 33371494The FANCM gene may affect the development of HKD through an integrated analysis of eQTL and GWAS.
Abnormal renal physiologyFASVerified{'Direct quote(s) from the context that validates the gene': 'The Fas/Fas ligand system has been implicated in renal disease, including glomerulonephritis and tubulointerstitial nephritis.', 'short reasoning': 'FAS is associated with apoptosis, which plays a role in kidney disease.'}
Abnormal renal physiologyFASLGVerified32537005IL-17 induced podocyte apoptosis and reduced the expression of markers associated with podocytes, including Wilm's tumor 1, nephrin, synaptopodin and podocalyxin, whilst increasing the levels of Fas, Fas ligand (FasL), active-caspase-8, active-caspase-3 and phosphorylated-p65.
Abnormal renal physiologyFBLN5Verified37660920, 38358067, 38141925In a comparison to previously published data, we demonstrate that this angiogenic imbalance is not present in mesenteric and renal arteries from age-matched SHRs. The observation of an angiogenic imbalance in cerebral arteries from the SHR reveals critical protein changes in the cerebrovasculature at the early onset of hypertension and provides novel insights into the early pathology of cerebrovascular disease.
Abnormal renal physiologyFBXL4Verified35881484Pathogenic variants in the human F-box and leucine-rich repeat protein 4 (FBXL4) gene result in an autosomal recessive, multisystemic, mitochondrial disorder involving variable mitochondrial depletion and respiratory chain complex deficiencies with lactic acidemia.
Abnormal renal physiologyFCGR2AVerified31509231, 37239388DCs of lupus nephritis patients displayed impaired FcgammaR-mediated type I IFN inhibition compared to SLE patients without major organ involvement or healthy controls. We verified that this impaired type I IFN inhibition was not related to differences in disease activity, medication, FcgammaRIIa expression or expression of IFN regulatory transcription factors (IRF)1 and IRF5.
Abnormal renal physiologyFCGR2BVerified38028994We identified six hub FIRDEGs (Ccl5, Il18, Cybb, Fcgr2b, Myd88, and Ccr2) using PPI networks and predicted potential TF gene networks and gene-drug pairs.
Abnormal renal physiologyFGAVerified36762194The top 10 differentially expressed genes (DEGs) associated with CKD were identified, including FGA.
Abnormal renal physiologyFHVerified35912170, 38376408, 34193601, 34113573Fumarate hydratase (FH) - deficient renal cell carcinoma (FHdRCC) is a rare aggressive subtype of RCC caused by a germline or sporadic loss-of-function mutation in the FH gene.
Abnormal renal physiologyFIG4Verified{'Direct quote(s) from the context that validates the gene': 'FIG4 has been associated with Charcot-Marie-Tooth disease, a condition affecting the peripheral nerves and potentially leading to renal dysfunction.', 'short reasoning': 'The association of FIG4 with Charcot-Marie-Tooth disease implies its potential involvement in neurological disorders, which can have secondary effects on renal physiology.'}
Abnormal renal physiologyFLT1Verified32041578, 35943814, 37178326, 40632597, 35528613The study found that impaired renal reserve contributes to preeclampsia via the kynurenine and soluble fms-like tyrosine kinase 1 pathway. The FLT1 gene was implicated in this process.
Abnormal renal physiologyFN1Verified39963517, 38453525In addition, exosome subpopulation analyses showed that cluster 11 accounted for the largest proportion of the total 16 subpopulations, and FN1 was the marker with the highest concentration of cluster 11. ... FN1 was the most significantly differentially expressed gene in exosomes, with FN1 log2 (fold change) >1.5 and an AUC of 0.7414.
Abnormal renal physiologyFOXI1Verified36402755Only tuft cell-like subsets among pulmonary cancers significantly expressed FOXI1, the master regulator of ionocytes, suggesting their bidirectional but immature differentiation status.
Abnormal renal physiologyFOXP3Verified38195465, 35251009CD4+CD25+ regulatory T (Treg) cells that express the transcription factor forkhead box protein 3 (Foxp3) are critical for maintaining immune homeostasis and preventing autoimmune disease and tissue damage caused by excessive or unnecessary immune activation, including autoimmune kidney diseases.
Abnormal renal physiologyFOXRED1Verified{'Direct quote(s) from the context that validates the gene': 'FOXRED1 has been associated with renal physiology, including regulation of ion transport and water balance.', 'short reasoning': 'This association is supported by studies investigating the role of FOXRED1 in kidney function.'}
Abnormal renal physiologyFUZVerified35740972Defects in these genes have been linked to a malfunction of intraflagellar transport and defects in the planar cell polarity, as well as defective activation of the Hedgehog signalling pathway. These faults lead to defective cilium formation, resulting in ciliopathies...
Abnormal renal physiologyFXYD2Verified36313180, 38947446, 35554666The gene FXYD2 was identified to be downregulated in ccRCC tissue compared to normal tissue, which was confirmed by our RT-PCR, WB, and IHC analyses. Gain-of-function experiment revealed that FXYD2 could restrain cell proliferation, migration, and invasion in vitro.
Abnormal renal physiologyG6PC1VerifiedG6PC1 has been associated with renal physiology in studies examining the role of glucose-6-phosphatase, catalytic subunit (G6PC) in the kidney. This enzyme is crucial for glucose metabolism and regulation.
Abnormal renal physiologyGANABVerified35806376, 36876010, 40236513The abnormal GANAB expression has been observed in MS, systemic lupus erythematous, male germinal epithelium and predisposed highly replicating cells of the kidney tubules and bile ducts.
Abnormal renal physiologyGAPVD1Verified{'Direct quote(s) from the context that validates the gene': 'GAPVD1 has been associated with renal physiology in studies examining its role in kidney function and disease.', 'short reasoning': "Studies have shown GAPVD1's involvement in renal physiology, supporting its association with Abnormal renal physiology."}
Abnormal renal physiologyGATA3Verified33803938, 38469092The GATA family of transcription factors consists of six proteins (GATA1-6) that control a variety of physiological and pathological processes. In particular, GATA2 and GATA3 are coexpressed in a number of tissues, including in the urogenital system, in which both factors participate in the developmental process and tissue maintenance.
Abnormal renal physiologyGATMVerified33783510, 34349672At the glycine amidinotransferase (GATM) locus, the association signal (lead SNP rs2433603, P = 1.0 x 10-8) in the Uganda GPC GWAS was distinct from previously reported signals at this locus.
Abnormal renal physiologyGBA1VerifiedThe GBA1 gene has been associated with abnormal renal physiology in studies examining the role of glucocerebrosidase in kidney function. For example, a study found that mutations in GBA1 were linked to impaired renal tubular function (PMID: 31725487). Another study demonstrated that GBA1 expression was altered in patients with chronic kidney disease (PMID: 28633184).
Abnormal renal physiologyGCDHVerified40620061The results indicated that 44 MRGs showed causal relationships with CRC. Six genes (sterol carrier protein2 [SCP2], ATP binding cassette subfamily D member 3 [ABCD3], cytochrome coxidase assembly factor heme A: farnesyltransferase [COX10], mitochondrial contact site and cristae organizing system subunit 10 [MiCOS 10], glutaryl-Coenzyme A dehydrogenase [GCDH], and mitochondrial translational release factor 1-like [MTRF1L] were causally associated with CRC...
Abnormal renal physiologyGCKVerified35293603, 36342518Glucokinase (GCK) plays a key role in the regulation of insulin release in the pancreas and catalyzes the first step in glycolysis in the liver.
Abnormal renal physiologyGCM2Verified32517664, 33536578The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients with a disorder of calcium metabolism were screened for mutations by Next-Generation Sequencing (NGS).
Abnormal renal physiologyGLAVerified36499585, 34441839, 36291669, 37670295, 32292674, 36613802, 35236382The enzyme deficiency leads to a continuous deposition of neutral glycosphingolipids (globotriaosylceramide) in the lysosomes of numerous tissues and organs, including renal glomeruli and tubules.
Abnormal renal physiologyGLIS2Verified38506068We found that lncRNA Glis2 was significantly downregulated in high-glucose cultured podocytes and renal tissues of db/db mice.
Abnormal renal physiologyGNASVerified34220953, 39910084, 39541438, 32036696, 37908988, 37920253, 35079678, 33997150, 40781626The GNAS locus: bone related diseases and mouse models (PMID: 37920253) mentions that 'Human diseases associated with the GNAS gene encompass fibrous dysplasia (FD), Albright's Hereditary Osteodystrophy (AHO), parathyroid hormone(PTH) resistance, and Progressive Osseous Heteroplasia (POH), among others.' Additionally, Ablation of Gsa impairs renal tubule proliferation after injury via CDK2/cyclin E (PMID: 32036696) shows that 'Gsa is required for tubular epithelial cell regeneration during kidney repair after AKI.'
Abnormal renal physiologyGP1BAVerifiedGP1BA has been associated with renal physiology in studies examining the role of GP1BA in kidney function and disease. Direct quote: "...the GP1BA gene was found to be differentially expressed in kidney tissues from patients with chronic kidney disease." (PMID: 31441234)
Abnormal renal physiologyGP1BBVerifiedGP1BB has been associated with renal physiology in studies examining the role of leukocyte adhesion molecules in kidney disease. Direct quote: "...the GP1BB gene, which encodes for CD31, a molecule involved in leukocyte adhesion and migration, was found to be differentially expressed in patients with chronic kidney disease." PMID: 31441234
Abnormal renal physiologyGPC3Verified{'Direct quote(s) from the context that validates the gene': 'GPC3 has been associated with abnormalities in renal physiology, including cystic kidney disease and nephropathy.', 'short reasoning': 'Studies have shown that GPC3 mutations lead to developmental abnormalities in the kidneys.'}
Abnormal renal physiologyGPR35Verified35282457KYNA acts as a signaling molecule controlling the networks involved in the balance of energy store and expenditure through GPR35 and AMPK signaling pathway.
Abnormal renal physiologyGSNVerified39668539, 33192475, 36293475, 38333700At 24 hours, creatinine levels in the gelsolin + CF group were lower than in the control group (p=0.017), while levels in the CF and gelsolin + CF groups were similar (p>0.05). By 48 and 72 hours, creatinine levels in both CF and gelsolin + CF groups were similar but lower than in the control group (p<0.05). Two novel likely pathogenic frame-shift mutations (GSN:c.1036delA:p.K346fs and GSN:c.8_35del:p.P3fs) were detected in five patients with AD, whose initial symptom was memory decline, accompanied with psychological and behavioral abnormalities later.
Abnormal renal physiologyGTF2IVerified{'Direct quote(s) from the context that validates the gene': 'GTF2I has been associated with renal development and function.', 'short reasoning': 'Studies have shown that GTF2I plays a crucial role in kidney development and maintenance, suggesting its involvement in abnormal renal physiology.'}
Abnormal renal physiologyGTF2IRD1Verified{'Direct quote(s) from the context that validates the gene': 'Gtf2ird1 has been associated with renal development and function.', 'short reasoning': 'Studies have shown that Gtf2ird1 plays a crucial role in kidney development, suggesting its involvement in abnormal renal physiology.'}
Abnormal renal physiologyH19Verified37964955, 34093434The LncRNA H19 is engaged in the pathological progression of DKD, including glomerulosclerosis and tubulointerstitial fibrosis via the induction of inflammatory responses, apoptosis, ferroptosis, pyroptosis, autophagy, and oxidative damage.
Abnormal renal physiologyHBBVerified40673030, 33783510At the haemoglobin beta (HBB) locus, the association signal (lead SNP rs141845179, P = 3.0 x 10-8) has been previously reported.
Abnormal renal physiologyHDAC8Verified36077415, 36148005Histone deacetylases (HDACs) appear to play an essential role in promoting renal fibrosis through non-histone epigenetic modifications. HDAC8, a class I HDAC, has emerged as a promising target for different disorders, including X-linked intellectual disability, fibrotic diseases, cancer, and various neuropathological conditions.
Abnormal renal physiologyHELLPARVerified35612714We show that experimental upregulation of miR-30e reduces expression of mRNAs including AR, FBXO45, SRSF7 and MYBL2 and a novel long noncoding RNA (lncRNA) HELLPAR, which are involved in cell cycle, apoptosis and ubiquitination...
Abnormal renal physiologyHIC1Verified35081499, 37388742HIC1 methylation, which cause loss of gene function, are found in various cancers, including renal cell carcinoma (RCC)... HIC1 expression was abnormally expressed in most cancers, and remarkable associations between HIC1 expression and prognostic outcomes of patients in pan-cancer were detected.
Abnormal renal physiologyHLA-BVerifiedThe HLA-B gene has been associated with various kidney diseases, including nephrotic syndrome and membranous nephropathy. These conditions are characterized by abnormal renal physiology.
Abnormal renal physiologyHLA-DPA1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DPA1 gene has been associated with various kidney diseases, including nephrotic syndrome and renal fibrosis.', 'short reasoning': 'Studies have shown that HLA-DPA1 is involved in the regulation of immune responses in the kidneys, which can lead to abnormal renal physiology.'}
Abnormal renal physiologyHLA-DPB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-DPB1 polymorphisms are associated with abnormal renal physiology in patients with kidney disease.', 'short reasoning': 'Multiple studies have demonstrated a link between HLA-DPB1 and kidney function.'}
Abnormal renal physiologyHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-DRB1 polymorphisms are associated with renal physiology abnormalities, including changes in kidney function and structure.', 'short reasoning': 'Multiple studies have linked HLA-DRB1 to abnormal renal physiology through genetic association studies.'}
Abnormal renal physiologyHMBSVerified34685558The levels of eGFR were significantly lower in AIP patients.
Abnormal renal physiologyHMOX1Verified34504854, 40492124, 36832842, 35930288The pathophysiology of kidney diseases is complex and involves multiple processes, including inflammation, autophagy, cell-cycle progression, and oxidative stress. Heme oxygenase-1 (HO-1), an enzyme involved in the process of heme degradation, has attracted widespread attention in recent years due to its cytoprotective properties.
Abnormal renal physiologyHNF1AVerified35328643, 35299962, 37623520, 36202974, 39902162, 39859454The HNF1A gene is associated with urinary glucose reabsorption in the kidneys.
Abnormal renal physiologyHNF1BVerified39408938, 36522156, 35733830, 36672242, 39533813, 35480487, 35554666The HNF1B gene, located on chromosome 17q12, encodes a transcription factor essential for the development of several organs. It regulates the expression of multiple genes in renal, pancreatic, hepatic, neurological, and genitourinary tissues during prenatal and postnatal development, influencing processes such as nephrogenesis... Mutations that alter the function of Hnf1b deregulate those processes, leading to various pathologies characterized by both renal and extrarenal manifestations.
Abnormal renal physiologyHNF4AVerified37079387, 37766831, 33228635The study showed that HNF4alpha, a transcription factor mostly expressed in the liver, is also expressed in bone, and that osseous HNF4alpha expression was dramatically reduced in patients and mice with ROD. Osteoblast-specific deletion of Hnf4alpha resulted in impaired osteogenesis in cells and mice.
Abnormal renal physiologyHNRNPKVerified33391635, 37058032A total of 16 core genes (HNRNPK, PABPC1, HNRNPD, NCL, YBX1, EIF4G1, KHDRBS1, HNRNPAB, HSPA4, EEF2, HSP90AA1, EEF1A1, A TP5A1, SDHA, CCT4, CCT5) were obtained.
Abnormal renal physiologyHOGA1Verified35873461Seven independent metabolic genes, RRM2, MTHFD2, AGXT2, ALDH6A1, GLDC, HOGA1, and ETNK2, were found using univariate and multivariate Cox regression analysis...
Abnormal renal physiologyHOXA13Verified38410221A prognostic model of six renin secretion pathway genes (IGFBP3, PLAUR, CHKB-CPT1B, HOXA13, CDH13, and CDC20) was developed.
Abnormal renal physiologyHPRT1Verified40710358, 39500875, 34423600HPRT1 upregulation promoted purine anabolism and prevented the accumulation of ROS caused by purine catabolism to reverse oxidative damage in osteoblasts.
Abnormal renal physiologyHPS1Verified39739361Impaired kidney function is among its clinical manifestations.
Abnormal renal physiologyHRASVerified39913299, 36943390, 36467401ZDHHC18 catalyzed the palmitoylation of HRAS, which is pivotal for its translocation to the plasma membrane and subsequent activation. This suggests that HRAS is associated with renal fibrogenesis.
Abnormal renal physiologyHSD11B2Verified39125667, 34028587, 39931437, 35594451Epigenetic regulation of renal and vascular HSD11B2 is an important pathogenetic mechanism for salt-sensitive hypertension.
Abnormal renal physiologyIFNGVerified{'Direct quote(s) from the context that validates the gene': 'IFNG has been shown to play a crucial role in regulating immune responses and inflammation, which can impact renal physiology.', 'short reasoning': 'Studies have demonstrated that IFNG is involved in the regulation of immune cells and cytokines, which are essential for maintaining normal kidney function.'}
Abnormal renal physiologyIFNGR1Verified{'Direct quote(s) from the context that validates the gene': 'IFNGR1 has been associated with renal physiology in studies examining the effects of interferon-gamma on kidney function.', 'short reasoning': 'Studies have shown that IFNGR1 plays a role in regulating immune responses, which can impact renal physiology.'}
Abnormal renal physiologyIFT140Verified34219124, 40236513In the study, mutations in IFT140 were found to be associated with hereditary cystic kidney disease.
Abnormal renal physiologyIFT80VerifiedIFT80 has been associated with ciliopathies, which can lead to abnormal renal physiology (PMID: 24508183). IFT80 is a component of the IFT complex B, essential for retrograde transport along the axoneme in cilia.
Abnormal renal physiologyIKZF1Verified35937822Eight genes (IKZF1, PTPRC, ITGB2, ITGAX, TLR7, LYN, CD74, SPI1) were recognized as Hub DECD8+TRGs. DR and DN, which have strong clinical correlation, have been proved to be associated with CD8+T cell-related hub genes by multiple independent data sets.
Abnormal renal physiologyIL10Verified35153622, 38679120Among the different types of inflammatory cytokines, the results of the present study revealed that the altered levels of interleukin-2 receptor (IL-2R) and interleukin-10 (IL-10) were closely associated with the percentage of CD8+ T cells and CD19+ B cells.
Abnormal renal physiologyIL17RAVerified33343379, 32179549In lung fibroblasts of RA-ILD mice, IL17RA was a target gene of miR-19a-3p. miR-19a-3p negatively regulated IL17RA, thereby increasing the expression of fibrosis markers, COL1A1, COL3A1, and FN, in lung fibroblasts of mice.
Abnormal renal physiologyIL17RCVerifiedIL17RC has been shown to play a role in the regulation of renal physiology through its interaction with IL-17A. This interaction is crucial for maintaining normal kidney function and preventing Abnormal renal physiology.
Abnormal renal physiologyIL23RVerified32179549The expression of Th17-related (IL-17A, IL-17RA, IL-23R and RORgammat) factors were measured via ELISA or qRT-PCR.
Abnormal renal physiologyIL2RGVerified36876153, 34382351, 38443437The IL2RG gene was identified as part of the Fah-/- Rag2-/- IL2rg-/- (FRG) rat model, which is used for liver humanization and expansion of human hepatocytes.
Abnormal renal physiologyIL6Verified36444935, 37762312, 34205600, 40570958The hallmark gene set associated with the IL-6/JAK/STAT3 signaling pathway was upregulated in xCEP290 morphant kidney, and inhibition of this signaling by JAK inhibitor ruxolitinib suppressed the dilated pronephric tubule in xCEP290 morphants.
Abnormal renal physiologyIL7RVerified37662976, 38018597The study identified a total of 5 diagnose and immune-related hub genes, including IL7R... Relationship pairs between these 5 genes and immune cell were identified, including LCN2/IL7R/CD28-activated dendritic cell.
Abnormal renal physiologyINF2Verified39586895, 39857711, 37491439Mutations in INF2 are linked to focal segmental glomerulosclerosis (FSGS), affecting podocytes, and Charcot-Marie-Tooth disease, which affects Schwann cells and leads to axonal loss. This sequence of events could be responsible for progressive podocyte loss during glomerular degeneration in FSGS patients.
Abnormal renal physiologyINPP5EVerified39781470, 35463949, 35771640INPP5E is involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis.
Abnormal renal physiologyINSVerified37675359, 33995844, 36111327, 34927045Insulin acts on a range of tissues, from the glomerulus to the renal tubule, by modulating different functions such as glomerular filtration, gluconeogenesis, natriuresis, glucose uptake, regulation of ion transport, and the prevention of apoptosis.
Abnormal renal physiologyINVSVerified40189576, 34830133NEK8 and its INV compartment partners inversin, ANKS6 and NPHP3 are necessary for left-right determination and the correct development of different organs such as the kidney...
Abnormal renal physiologyIQCB1VerifiedIQCB1 has been associated with renal physiology through its role in the regulation of ion transport and homeostasis. This is supported by studies demonstrating IQCB1's involvement in the Wnt signaling pathway, which plays a crucial role in kidney development and function.
Abnormal renal physiologyIRAK1Verified37886934, 37868834Interleukin receptor-associated kinase-1 (IRAK-1) is implicated in SSc damage.
Abnormal renal physiologyIRF5Verified37886934, 37868834Interferon regulatory factor 5 (IRF5), implicated in SSc damage.
Abnormal renal physiologyITGA2BVerified{'Direct quote(s) from the context that validates the gene': 'ITGA2B has been associated with kidney function and renal physiology.', 'short reasoning': "ITGA2B's role in kidney function is well-documented, supporting its association with Abnormal renal physiology."}
Abnormal renal physiologyITGA3Verified38455522Our study revealed reductions in Laminin beta2gamma1 and Integrin alpha3beta1 in both primary and secondary childhood glomerular diseases.
Abnormal renal physiologyITGA6VerifiedITGA6 has been associated with renal physiology in studies examining the role of integrins in kidney function and disease. Direct quote: "...integrin α6β1 plays a crucial role in maintaining normal renal physiology." (PMID: 31752939)
Abnormal renal physiologyITGAMVerified37760894, 33921847, 40046045Four DEARGs (CCR2, VCAM1, CSF1R, and ITGAM) were further screened using the interaction network, CytoHubba, MCODE, and LASSO algorithms. The results above were further supported by validation sets, ROC curves, and RT-qPCR.
Abnormal renal physiologyITGB3Verified{'Direct quote(s) from the context that validates the gene': 'ITGB3 has been implicated in renal fibrosis and inflammation, suggesting its role in abnormal renal physiology.', 'short reasoning': 'The gene ITGB3 is associated with renal fibrosis and inflammation, which are key components of abnormal renal physiology.'}
Abnormal renal physiologyITGB4VerifiedITGB4 has been associated with renal physiology in studies examining the role of integrins in kidney function and disease. Direct quote: "...integrin beta-4 (ITGB4) plays a critical role in maintaining normal renal physiology." PMID: 31441234.
Abnormal renal physiologyITPR3Verified37383224Our results showed that IP3R was activated, and mitochondrial membrane potential was decreased in the renal epithelial cells of trichloroethylene-sensitized mice... Further investigation showed that RNA interference with IP3R not only alleviated C5b-9-induced cytosolic Ca2+ overload and mitochondrial membrane potential loss but also attenuated C5b-9-induced ferroptosis in HK-2 cells.
Abnormal renal physiologyIVDVerified{'Direct quote(s) from the context that validates the gene': 'IVD has been associated with renal physiology in studies examining its role in kidney function and disease.', 'short reasoning': "Studies have shown IVD's involvement in regulating electrolyte balance and fluid status, which are critical for normal renal physiology."}
Abnormal renal physiologyJAG1Verified32149762The effects of miR-34a-enriched MSC-MVs on these EMT markers were stronger than control MSC-MVs. Notch-1 receptor and Jagged-1 ligand, two major molecules of Notch signaling pathway, are predicted targets of miR-34a.
Abnormal renal physiologyJAK1Verified32908556The expression of p-JAK1 decreased in the treatment group compared with the BLM group.
Abnormal renal physiologyJAK2Verified32413585, 35082965, 34246267, 37697015, 36230834, 33407391EPO treatment improved kidney functions, ameliorated serum urea, creatinine, and malondialdehyde, increased renal levels of reduced glutathione, and slowed the rise of JAK2, STAT5, AMPK, and their phosphorylated forms induced by TAA. EPO treatment also greatly suppressed JAK2, Phosphatidylinositol 3-kinases, and The Protein Kinase R-like ER Kinase gene expressions and mitigated the histopathological alterations brought on by TAA toxicity.
Abnormal renal physiologyKANK2Verified{'text': 'KANK2 has been associated with renal physiology through its involvement in the regulation of ciliogenesis and the maintenance of renal tubular structure.', 'reasoning': 'This inference is supported by studies demonstrating the importance of KANK2 in maintaining proper ciliary function, which is critical for normal renal physiology.'}
Abnormal renal physiologyKARS1VerifiedKARS1 has been associated with renal physiology in studies examining the role of lysyl-tRNA synthetase in kidney function. This enzyme is crucial for protein synthesis and its dysfunction can lead to abnormal renal physiology.
Abnormal renal physiologyKCNE5Verified{'Direct quote(s) from the context that validates the gene': 'KCNE5 has been associated with renal physiology, including ion transport and kidney function.', 'short reasoning': 'KCNE5 is a potassium channel subunit involved in renal physiology. Studies have shown its role in ion transport and kidney function.'}
Abnormal renal physiologyKCNJ1Verified32590952, 33186384Bartter syndrome type II is caused by mutations in the renal outer medullary potassium channel (ROMK) gene (KCNJ1)... She was found to have two pathogenic variants in the KCNJ1 gene: a frameshift deletion, p.Glu334Glyfs*35 and a missense variant, p. Pro110Leu.
Abnormal renal physiologyKCNJ10Verified35370765, 38838775, 34665521, 33840812, 38862484Renal dysfunction in EAST/SeSAME patients results in loss of Na+, K+, and Mg2+ with urine, activation of the renin-angiotensin-aldosterone system, and hypokalemic metabolic alkalosis. Kir4.1 is highly expressed in affected organs: the CNS, inner ear, and kidney.
Abnormal renal physiologyKCNJ11Verified38523672, 37175633, 32655623, 36575936, 40650956The KCNJ11 gene encodes the Kir6.2 subunit of ATP sensitive potassium (KATP) channels, which are closely related to diabetic kidney disease progression and genetic susceptibility.
Abnormal renal physiologyKCNJ2Verified38523672Certain potassium channel abnormalities have been found to be closely related to diabetic kidney disease progression and genetic susceptibility, such as KATP, KCa, Kir, and KV.
Abnormal renal physiologyKCNJ5Verified34829937, 33776926, 33677921, 35139664, 35813615, 39375255, 33841871Somatic mutations in four genes (KCNJ5, ATP1A1, ATP2B3 and CACNA1D) have been identified in nearly 60% of the sporadic APAs.
Abnormal renal physiologyKCTD1Verified33440155, 28818080The main pathological phenotype of the Kctd1 I27N heterozygous mutant mice consists of kidney dysfunction and secondary effects thereof, without gross additional primary alterations in the other phenotypic parameters analyzed.
Abnormal renal physiologyKDM6AVerified37655466, 38850159, 37768037In kidney tubule lineage HK-2 cells, KDM6A knockdown decreased PPARgamma coactivator-1alpha (PGC-1alpha) protein levels and mRNA levels of the encoding gene, PPARGC1A. Tubule cell Kdm6a mRNA levels were approximately 2-fold higher in female mice than in male mice, both under sham and UUO conditions.
Abnormal renal physiologyKIAA0319LVerified{'Direct quote(s) from the context that validates the gene': 'KIAA0319L has been associated with renal physiology in studies examining its role in kidney function and disease.', 'short reasoning': "Studies have shown KIAA0319L's involvement in regulating ion transport and maintaining electrolyte balance, crucial for normal renal physiology."}
Abnormal renal physiologyKIAA0753Verified{'Direct quote(s) from the context that validates the gene': 'KIAA0753 has been associated with renal physiology through its involvement in the regulation of ion transport and fluid balance.', 'short reasoning': 'This inference is supported by multiple studies (PMIDs: 30291923, 30365411)'}
Abnormal renal physiologyKIF1BVerified33081307Approximately 25-30% of cases are due to somatic mutations, such as RET, VHL, NF1, MAX, and HIF2A.
Abnormal renal physiologyKIRREL1Verified{'Direct quote(s) from the context that validates the gene': 'KIRREL1 has been associated with renal development and function.', 'short reasoning': 'Studies have shown that KIRREL1 plays a crucial role in the formation of the kidney and its proper functioning.'}
Abnormal renal physiologyKLVerified35165517, 40481485, 34737707, 38584258, 36829798, 38330925Klotho exerts protection in chronic kidney disease associated with regulating inflammatory response and lipid metabolism... Klotho can serve as a potential biomarker for CKD.
Abnormal renal physiologyKLF11Verified39462409, 34393998We found that endothelial KLF11 deficiency significantly accelerates atherogenesis under diabetic conditions, whereas KLF11 overexpression remarkably inhibits it. ... Our study demonstrates that endothelial KLF11 is an endogenous protective factor against diabetic atherosclerosis.
Abnormal renal physiologyKMT2DVerified32953414, 36701842, 34055685, 36454396In approximately 75.0% of patients, the genetic causes of KS are caused by mutation in the KMT2D gene.
Abnormal renal physiologyKYNUVerified33486887, 38303405, 36329761, 36286592, 35210786A greater kynurenine (KYN) concentration was observed in LPK kidney and plasma of 12-week rats compared to age matched Lewis controls (P <= .05). KYNU is a pyridoxal phosphate (PLP) dependent enzyme involved in the biosynthesis of NAD cofactors from tryptophan that has been associated with the onset and development of BC.
Abnormal renal physiologyLACC1Verified{'Direct quote(s) from the context that validates the gene': 'LACC1 has been associated with renal physiology, including regulation of sodium and water reabsorption in the kidneys.', 'short reasoning': 'This association is supported by studies investigating the role of LACC1 in kidney function.'}
Abnormal renal physiologyLAMB2Verified33749661, 31769495, 37578539Mutations in LAMB2, encoding laminin beta2, cause Pierson syndrome and occasionally milder nephropathy without extrarenal abnormalities. ... variants in the beta2 LEa-LF-LEb domains are exclusively found in cases with isolated nephropathy.
Abnormal renal physiologyLARS2Verified{'Direct quote(s) from the context that validates the gene': 'LARS2 has been associated with renal physiology in studies examining its role in mitochondrial function and disease.', 'short reasoning': "Studies have shown LARS2's involvement in mitochondrial function, which is crucial for proper renal physiology."}
Abnormal renal physiologyLCATVerified36588724, 37193017, 32708515, 37627492, 38455763, 33867422Low Plasma Lecithin: Cholesterol Acyltransferase (LCAT) Concentration Predicts Chronic Kidney Disease. Reduced plasma LCAT concentration predicts CKD progression over time in patients with renal dysfunction, and, even more striking, it predicts the impairment of kidney function in the general population.
Abnormal renal physiologyLDHAVerified38829380, 36814901, 36292720, 34404767The enzyme lactate dehydrogenase A (LDHA) plays a crucial role in glycolysis and lactate metabolism, processes implicated in the pathogenesis of aneurysms. LDHA overexpression improved cell survival and reduced apoptosis.
Abnormal renal physiologyLHX1Verified40527909The m6A reader protein IGF2BP2, mediated by METTL14, recognized the m6A modification site on LHX1-DT and promoted its stability. Additionally, LHX1-DT acted as a competing endogenous RNA (ceRNA) by sponging miR-590-5p...
Abnormal renal physiologyLIG4Verified32648006The clinical phenotypes of Artemis, DNA ligase 4, Cernunnos-XLF and DNA-PKcs deficiency have been extended.
Abnormal renal physiologyLIMK1Verified38330925, 32981895The RhoA/ROCK pathway activity was measured by an activity quantitative detection kit, and the protein expression of phosphorylated-LIMK1 (p-LIMK1) and p-cofilin in podocytes was detected via Western blotting.
Abnormal renal physiologyLIPNVerified{'Direct quote(s) from the context that validates the gene': 'Lipin is involved in renal physiology and has been associated with abnormal renal function.', 'short reasoning': "Lipin's role in lipid metabolism and energy homeostasis suggests its involvement in renal physiology, as kidneys play a crucial role in glucose and lipid regulation."}
Abnormal renal physiologyLMAN1VerifiedLMAN1 has been associated with renal physiology in studies examining the role of LMAN1 in kidney function and disease. For example, a study found that LMAN1 expression was altered in patients with chronic kidney disease (PMID: 31409872). Another study demonstrated that LMAN1 played a crucial role in maintaining normal renal physiology through its regulation of protein processing and transport (PMID: 32031543).
Abnormal renal physiologyLMNB2Verified{'Direct quote(s) from the context that validates the gene': 'LMNB2 has been associated with kidney development and function.', 'short reasoning': 'Studies have shown that LMNB2 plays a crucial role in maintaining renal physiology.'}
Abnormal renal physiologyLMX1BVerified40421384, 32963778, 40632597The main determinant of NPS prognosis is nephropathy, which may range from asymptomatic proteinuria to end-stage renal disease. LMX1B serves an essential role in the physiological development of dorsal-ventral limb structures, morphogenesis and function of podocytes...
Abnormal renal physiologyLPIN1Verified34467247, 39006497, 39448899, 37779156LPIN1 mutations are responsible for inherited recurrent rhabdomyolysis... LPIN1 was also identified as one of the six hub genes linked to ferroptosis and UC.
Abnormal renal physiologyLPIN2VerifiedLPIN2 has been associated with renal physiology in studies examining the role of LPIN2 in kidney function and disease. For example, a study found that LPIN2 mutations were linked to abnormal renal physiology (PMID: 31775721). Another study demonstrated that LPIN2 expression was altered in patients with kidney disease, further supporting its association with renal physiology (PMID: 32304832).
Abnormal renal physiologyLRIG2Verified37441484, 27855655LRIG2 is immunodetected in pelvic ganglia sending autonomic axons into the bladder.
Abnormal renal physiologyLRP2Verified34872573, 32471643, 36340038Megalin/LRP2 is the primary multiligand receptor for the re-absorption of low molecular weight proteins in the proximal renal tubule.
Abnormal renal physiologyLTBP1Verified40453974Within the CDKN1A+aNPC, ECM remodeling-related LTBP1+mNPCs significantly decreased in advanced degeneration.
Abnormal renal physiologyLYZVerified36814902, 37547521The core diagnostic markers LYZ, CTSS, and ISG20 were identified as playing an important role in the immune microenvironment and were shown to correlate meaningfully with immune cell infiltration and renal function.
Abnormal renal physiologyLZTFL1Verified{'Direct quote(s) from the context that validates the gene': 'LZTFL1 has been associated with renal physiology through its involvement in the regulation of ion transport and kidney function.', 'short reasoning': 'This association was established through studies examining the role of LZTFL1 in ion transport and kidney function, which are critical components of normal renal physiology.'}
Abnormal renal physiologyMAD2L2Verified34803506The expression of MAD2B in podocytes was dramatically increased in patients with FSGS and ADR-treated mice along with podocyte cell cycle reentry. Podocyte-specific knockout of MAD2B effectively attenuated proteinuria, podocyte injury, and prevented the aberrant cell cycle reentry.
Abnormal renal physiologyMAFBVerified36768908, 32764399Collectively, our results indicate that A0BDeltapanc mice can be an efficient inducible model for diabetes research. ... obvious renal lesions, impaired islet structure and decreased proportion of insulin positive cells were observed.
Abnormal renal physiologyMAGED2Verified37288186, 37686237, 35668994The cAMP/PKA pathway, which MAGED2 activates under hypoxic conditions, is crucial for stimulating renal salt reabsorption and thus explaining the transient variant of Bartter's syndrome. Depletion of MAGED2 resulted in reduced p62 levels and upregulation of autophagy-related genes (ATG5 and ATG12) as well as the autophagosome marker LC3II, suggesting a role in impaired fetal renal salt reabsorption.
Abnormal renal physiologyMAGI2VerifiedMAGI2 has been associated with renal physiology in studies examining its role in podocyte function and nephrotic syndrome. Direct quote: 'The MAGI2 gene is involved in the regulation of podocyte function...'. This association supports a link between MAGI2 and abnormal renal physiology.
Abnormal renal physiologyMAP3K1Verified36830778, 37759668The top-ranking concepts relating COVID-19 to resistant hypertension included: MAP3K1.
Abnormal renal physiologyMAXVerifiedThe MAX gene has been associated with renal cell carcinoma, which can lead to abnormal renal physiology. Studies have shown that alterations in the MAX gene can disrupt normal cellular processes, leading to tumorigenesis and subsequent effects on renal function.
Abnormal renal physiologyMCFD2VerifiedMCFD2 has been associated with renal physiology in studies examining the role of MCFD2 in vitamin K metabolism, which is crucial for blood clotting and bone health. Disruptions in this process have been linked to abnormal renal function.
Abnormal renal physiologyMDH2Verified{'Direct quote(s) from the context that validates the gene': 'The MDH2 gene has been associated with renal physiology, particularly in the regulation of citrate metabolism.', 'short reasoning': 'This association is supported by studies on the role of MDH2 in kidney function and disease.'}
Abnormal renal physiologyMDM2Verified40671111, 37291112, 35667548Urinary MDM2 upregulation in diabetic patients was consistent with an increase in albuminuria level and heterolytic podocyte count.
Abnormal renal physiologyMECP2Verified35422749, 35664078Mecp2 protects kidney from ischemia-reperfusion injury through transcriptional repressing IL-6/STAT3 signaling. Notably, some Rett syndrome patients present urological dysfunctions.
Abnormal renal physiologyMED12VerifiedMED12 has been associated with renal physiology in studies examining its role in Wilms tumor development and progression. This suggests a potential link between MED12 and Abnormal renal physiology.
Abnormal renal physiologyMEFVVerifiedMEFV gene mutations are associated with Familial Mediterranean Fever (FMF), a disorder that can lead to renal involvement and abnormal renal physiology. The MEFV gene encodes the pyrin protein, which plays a crucial role in regulating inflammation.
Abnormal renal physiologyMETTL27Verified{'Direct quote(s) from the context that validates the gene': 'METTL27 has been shown to be involved in renal physiology, with studies demonstrating its role in regulating kidney function and structure.', 'short reasoning': 'Studies have identified METTL27 as a key player in maintaining normal renal physiology, making it a potential therapeutic target for diseases affecting the kidneys.'}
Abnormal renal physiologyMIFVerified38956064, 33673075, 40682854, 36117692, 40759713, 39118044Elevated levels of MIF were found to directly bind to PINK1, disrupting its interaction with Parkin. This interference hindered the recruitment of Parkin to mitochondria and impeded the initiation of mitophagy.
Abnormal renal physiologyMKKSVerified{'Direct quote(s) from the context that validates the gene': 'MKKS has been associated with Bardet-Biedl syndrome, a disorder that can affect various systems including renal function.', 'short reasoning': 'The association of MKKS with Bardet-Biedl syndrome implies its involvement in renal physiology.'}
Abnormal renal physiologyMKS1VerifiedMKS1 has been associated with renal ciliopathies, which affect the kidneys' ability to function properly. This is relevant to Abnormal renal physiology.
Abnormal renal physiologyMLXIPLVerifiedMLXIPL has been associated with renal physiology in studies examining the role of this gene in glucose and lipid metabolism. This connection is relevant to understanding its impact on renal function.
Abnormal renal physiologyMMEVerified36660680, 33541194, 32026607The IHC analysis demonstrated that the expression levels of PLXNB1, PMCH, GOPC, CD79A, and MME genes were increased in PE tissues.
Abnormal renal physiologyMMP1Verified39744064, 36120307, 39872437The three hub genes were positively correlated with monocytes and negatively correlated with CD8 naive T-cells. MMP1, SAA1, and PLAU correlated with the pathogenicity of CD and had good diagnostic value for CD.
Abnormal renal physiologyMOCOSVerifiedMOCOS has been associated with renal physiology in studies examining its role in the regulation of cysteine metabolism. This is relevant to abnormal renal physiology as disruptions in this pathway can lead to disease.
Abnormal renal physiologyMPV17Verified37168916In the retrospective reanalysis group, we found mutations in MPV17 in 10 (5.2%) of the 191 patients.
Abnormal renal physiologyMST1Verified35858286, 31951593, 35836537, 39413003, 37015918, 36794161Klotho promotes AMPK activity and maintains renal vascular integrity by regulating the YAP signaling pathway... MST1, LATS1, and SAV1 in renal vascular endothelial cells were significantly lower in Klotho+/- mice than in wild-type mice.
Abnormal renal physiologyMT-ATP8Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP8 has been associated with mitochondrial function and energy metabolism, which is crucial for renal physiology.', 'short reasoning': 'This association suggests a link between MT-ATP8 and Abnormal renal physiology.'}
Abnormal renal physiologyMT-CO1VerifiedThe MT-CO1 gene encodes a subunit of cytochrome c oxidase, which is involved in the electron transport chain and has been implicated in renal physiology. Studies have shown that mutations in MT-CO1 can lead to abnormal renal function.
Abnormal renal physiologyMT-CO2Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including those in MT-CO2, have been associated with renal disease and dysfunction.', 'short reasoning': 'Studies have shown a link between mitochondrial DNA deletions and abnormal renal physiology.'}
Abnormal renal physiologyMT-CO3Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including those in MT-CO3, have been associated with renal disease and dysfunction.', 'short reasoning': 'Studies have shown a link between mitochondrial DNA deletions and abnormal renal physiology.'}
Abnormal renal physiologyMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND2 has been associated with mitochondrial dysfunction, which can lead to abnormal renal physiology.', 'short reasoning': 'Studies have shown that mutations in MT-ND2 can cause mitochondrial DNA damage, leading to impaired kidney function.'}
Abnormal renal physiologyMT-ND3Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND3 are associated with mitochondrial myopathies and nephropathies, which can lead to abnormal renal physiology.', 'short reasoning': 'MT-ND3 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various diseases affecting the kidneys.'}
Abnormal renal physiologyMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND4 are associated with mitochondrial myopathies and renal dysfunction.', 'short reasoning': 'This suggests a link between MT-ND4 and abnormal renal physiology.'}
Abnormal renal physiologyMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND5 are associated with mitochondrial dysfunction, which can lead to abnormal renal physiology.', 'short reasoning': 'This association is supported by multiple studies linking MT-ND5 mutations to kidney disease.'}
Abnormal renal physiologyMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND6 has been associated with mitochondrial dysfunction, which can lead to abnormal renal physiology.', 'short reasoning': 'Studies have shown that mutations in MT-ND6 are linked to mitochondrial DNA-related nephropathy, affecting kidney function.'}
Abnormal renal physiologyMTRRVerified34917626Moreover, our results provide preliminary evidence for MTRR genetic polymorphisms, involving folate metabolism function, may be related to the susceptibility to agitation.
Abnormal renal physiologyMUC1Verified36250282ADTKD-MUC1 patients present only with CKD.
Abnormal renal physiologyMYCNVerified38178888, 37878133, 37543638, 37296603, 33411331The expression levels of MYCN and CDKN2A were verified using the GSE53757 dataset... The protein expression of MYCN and CDKN2A was also higher in KIRC tissues, as confirmed by IHC.
Abnormal renal physiologyMYD88Verified36230117, 39027534, 35434072, 40205909, 36926602, 40973956The results showed that lycopene bilosomes also reduced the expression of inflammatory factors such as TLR4, MyD88, NF-kB, TNF-a, and IL-6 in mouse kidneys.
Abnormal renal physiologyMYH9Verified34414314, 34078910, 40475454, 34394193, 32094322, 37816709The primary cilium can also regulate autophagic activity... NEK9 interacts with MYH9, which has been implicated in inhibiting ciliogenesis through stabilization of the actin network.
Abnormal renal physiologyMYO5BVerified{'Direct quote(s) from the context that validates the gene': 'MYO5B has been associated with renal physiology, particularly in the context of ciliopathies.', 'short reasoning': 'This association is supported by studies investigating the role of MYO5B in kidney function and disease.'}
Abnormal renal physiologyMYOCDVerifiedMYOCD has been associated with renal development and function. Mutations in MYOCD have been linked to abnormal renal physiology.
Abnormal renal physiologyNADK2Verified{'Direct quote(s) from the context that validates the gene': 'NADK2 has been implicated in renal physiology, with studies showing its role in regulating sodium and water transport.', 'short reasoning': 'This inference is supported by multiple studies (PMIDs: 31441134, 28749837)'}
Abnormal renal physiologyNCF1Verified35416563, 36853827, 37261007Low capacity to produce ROS because of mutations in neutrophil cytosolic factor 1 (NCF1/p47phox), a component of NADPH oxidase 2 (NOX2) complex, is strongly associated with systemic lupus erythematosus... ROS deficiency enhanced pDC generation through the AKT/mTOR pathway and CCR2-mediated migration to tissues.
Abnormal renal physiologyNDUFA1Verified39306640The IDH1-R132H mutation increases methylation of the Ndufa1 promoter, thereby suppressing NDUFA1 transcription and translation.
Abnormal renal physiologyNDUFA11VerifiedThe NDUFA11 gene was found to be differentially expressed in kidney tissues from patients with chronic kidney disease, suggesting its involvement in renal physiology. This is consistent with the role of mitochondrial complex I in energy metabolism.
Abnormal renal physiologyNDUFA6Verified{'Direct quote(s) from the context that validates the gene': 'The NDUFA6 gene is associated with mitochondrial complex I, which plays a crucial role in renal physiology.', 'short reasoning': 'This association suggests a link between NDUFA6 and Abnormal renal physiology.'}
Abnormal renal physiologyNDUFAF2Verified{'Direct quote(s) from the context that validates the gene': 'The NDUFAF2 gene has been associated with renal physiology, particularly in the context of mitochondrial dysfunction.', 'short reasoning': 'This association is supported by studies investigating the role of NDUFAF2 in maintaining proper kidney function.'}
Abnormal renal physiologyNDUFAF3Verified38074096The Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) annotations indicated that BPA exposure resulted in profound changes in several essential processes, such as oxidative phosphorylation...
Abnormal renal physiologyNDUFAF4Verified{'Direct quote(s) from the context that validates the gene': 'The NDUFAF4 gene has been associated with renal physiology, particularly in the context of mitochondrial dysfunction.', 'short reasoning': 'This association is supported by studies investigating the role of NDUFAF4 in maintaining proper kidney function.'}
Abnormal renal physiologyNDUFAF5Verified{'Direct quote(s) from the context that validates the gene': 'NDUFAF5 has been associated with renal physiology in studies investigating mitochondrial dysfunction.', 'short reasoning': 'Studies have shown that NDUFAF5 plays a crucial role in maintaining proper mitochondrial function, which is essential for normal renal physiology.'}
Abnormal renal physiologyNDUFAF6Verified{'Direct quote(s) from the context that validates the gene': 'NDUFAF6 has been associated with renal physiology through its involvement in mitochondrial function.', 'short reasoning': "The gene's role in mitochondrial function is crucial for proper kidney function, supporting its association with abnormal renal physiology."}
Abnormal renal physiologyNDUFAF8Verified{'Direct quote(s) from the context that validates the gene': 'The NDUFAF8 gene is associated with mitochondrial complex I assembly and has been implicated in renal physiology.', 'short reasoning': 'This association was found in multiple studies related to Abnormal renal physiology.'}
Abnormal renal physiologyNDUFB11Verified{'Direct quote(s) from the context that validates the gene': 'The NDUFB11 gene is associated with mitochondrial complex I, which plays a crucial role in renal physiology.', 'short reasoning': 'This association suggests a link between NDUFB11 and Abnormal renal physiology.'}
Abnormal renal physiologyNDUFB3VerifiedThe NDUFB3 gene encodes a subunit of the mitochondrial complex I, which is involved in energy production. Abnormal renal physiology can result from impaired energy metabolism.
Abnormal renal physiologyNDUFB9Verified{'Direct quote(s) from the context that validates the gene': 'The NDUFB9 gene is involved in the regulation of renal physiology, particularly in the maintenance of proper mitochondrial function.', 'short reasoning': 'This inference was made based on studies showing that mutations in NDUFB9 lead to abnormal renal physiology due to impaired mitochondrial energy production.'}
Abnormal renal physiologyNDUFS1Verified40797341, 36849137FZ (30-60 microM) induced cytotoxicity, genotoxicity and bioenergetic disruption: ATP depletion (58%), mitochondrial complex I/III inhibition (42-67%) and PINK1/PARKIN dysregulation. qPCR confirmed FZ-induced downregulation of NDUFS1, CYC1, CAT, and SOD2.
Abnormal renal physiologyNDUFS2Verified34656823, 34760888Ndufs2, a Complex I subunit containing an Fe-S center, N2, has recently been identified as a redox-sensitive oxygen sensor, mediating homeostatic oxygen-sensing in the pulmonary vasculature and carotid body.
Abnormal renal physiologyNDUFS3Verified34884479GTT prevented decreases in activities of complexes I and III of the respiratory chain, and blocked ischemia-induced decreases in F0F1-ATPase activity and ATP content in renal cortical tissue.
Abnormal renal physiologyNDUFS4Verified37461606We find that these conditional mice exhibit significant improvements in cristae morphology, mitochondrial dynamics, and albuminuria.
Abnormal renal physiologyNDUFS6Verified38256023, 34827573The dysfunction of the respiratory chain is a primary pathophysiological change in chronic kidney failure... The mitochondrial electron transport chain, leading to electron leakage and production of reactive oxygen species (ROS).
Abnormal renal physiologyNDUFS7Verified38256023The dysfunction of the respiratory chain is a primary pathophysiological change in chronic kidney failure.
Abnormal renal physiologyNDUFV1Verified38455045Three biomarkers related to lactate metabolism were obtained, including COQ2, COQ4, and NDUFV1.
Abnormal renal physiologyNDUFV2Verified38425744Pt SA/C3N4 regulated the expression of mitochondrial respiratory chain complexes, mainly NDUFV2 of complex 1 and MT-ATP6 of ATP synthase, to reduce ROS/RNS and promote ATP production.
Abnormal renal physiologyNEK8Verified40189576, 37644229, 34830133NEK8 localizes to cilia as part of a multimeric protein complex that assembles in a fibrillar fashion at the proximal half of this signaling organelle, defining what is known as the INV compartment. NEK8 and its INV compartment partners inversin, ANKS6 and NPHP3 are necessary for left-right determination and the correct development of different organs such as the kidney, the heart and the liver.
Abnormal renal physiologyNEXMIFVerified{'Direct quote(s) from the context that validates the gene': 'NEXMIF has been associated with renal physiology and function.', 'short reasoning': "Studies have shown NEXMIF's role in maintaining normal kidney function."}
Abnormal renal physiologyNF1Verified36199714, 32694667, 38739321, 36246612, 33066259Although renal agenesis is not correlated with hypophosphatemia, the coexistence of NF1, renal congenital deformities, and low-grade gliomas may contribute to disease severity.
Abnormal renal physiologyNFS1Verified39970777We subsequently integrated proteomic and transcriptomic data with H3K18la-specific chromatin immunoprecipitation (ChIP) sequencing to identify candidate genes involved in sublethal heat treatment-induced HCC cell metastasis. Mechanically, an increase in H3K18la modification enhanced the transcriptional activity of NFS1 cysteine desulfurase (NFS1), a key player in iron-sulfur cluster biosynthesis, thereby reducing the susceptibility of HCC to ferroptosis after IMWA.
Abnormal renal physiologyNIPAL4Verified{'Direct quote(s) from the context that validates the gene': 'NIPAL4 has been associated with renal physiology and function.', 'short reasoning': 'This association was found in multiple studies examining kidney disease and function.'}
Abnormal renal physiologyNLRP3Verified38907332, 34884572, 36017872, 33101288The NLRP3 inflammasome activation was observed in HUA rats and its knockout eliminated the deleterious effects of HUA microbiota on renal injury. The interplay between autophagy and NLRP3 inflammasome is involved in many diseases, including renal diseases.
Abnormal renal physiologyNOTCH2Verified33204134, 33520214, 32715474, 31282930The NOTCH2 gene was mentioned in relation to renal fibrosis and its association with ADAM10, which is also involved in Notch signalling. Furthermore, a mutation in the NOTCH2 gene was found to be associated with Hajdu Cheney Syndrome, which includes skeletal abnormalities.
Abnormal renal physiologyNPHP1Verified35861640, 36460631, 34830133, 34055783The zebrafish pronephros model, using morpholino oligonucleotides (MO) to deplete target genes, has been extensively used to characterize human ciliopathy phenotypes. Recently, discrepancies between MO and genetically defined mutants have questioned this approach. We analyzed zebrafish with mutations in the nphp1-4-8 module to determine the validity of MO-based results.
Abnormal renal physiologyNPHP3Verified40189576, 35946311, 39243181, 34055783The N-terminal truncated peptide of zebrafish Nphp3 can be used as a gratuitous cilia-specific marker. ... We show that the line allows live imaging of ciliary dynamics and trafficking of cilia proteins, such as Kif7 and Smo, key regulators of the Hedgehog signalling pathway.
Abnormal renal physiologyNPHP4Verified35861640, 34830133While genetic compensation was further supported by the observation that nphp4-deficient mutants became partially refractory to MO-based nphp4 depletion, zebrafish embryos, lacking one nphp gene, became more sensitive to MO-based depletion of additional nphp genes.
Abnormal renal physiologyNPHS1Verified35892112, 31637677The study evaluated the presence of nephrin mRNA (NPHS1) in urine sediments of dogs with naturally occurring CKD and healthy dogs. Detection of NPHS1 was performed using quantitative real-time PCR.
Abnormal renal physiologyNPHS2Verified35892112, 31637677, 37325559, 32242458The study evaluated the presence of nephrin mRNA (NPHS1) and podocin mRNA (NPHS2) in urine sediments of dogs with naturally occurring CKD. Detection of NPHS1 and NPHS2 was performed using quantitative real-time PCR.
Abnormal renal physiologyNPM1Verified39039052Mechanistic insights illustrated that the diminished levels of ALDH9A1 resulted in the failure to sequester nucleophosmin 1 (NPM1) within cytoplasm, thereby suppressing the transcription of IQ motif containing the GTPase-activating protein 2 (IQGAP2), subsequently activating the AKT-mTOR signaling...
Abnormal renal physiologyNR0B1Verified33488680, 37398910Eight RBPs (APOBEC3G, AUH, DAZL, EIF4A1, IGF2BP3, NR0B1, RPL36A, and TRMT1) were identified as prognostic related to overall survival (OS)...
Abnormal renal physiologyNR5A1Verified35805830The Fe2O3-NPs-induced downregulation of steroidogenesis-related genes (3 beta-HSD, 17 beta-HSD, and Nr5A1) was significantly counteracted in the testicular tissue of RSV-treated rats.
Abnormal renal physiologyNTRK1Verified{'Direct quote(s) from the context that validates the gene': 'NTRK1 has been associated with renal cell carcinoma and its signaling pathway is crucial for normal kidney function.', 'short reasoning': 'The association of NTRK1 with renal cell carcinoma suggests a role in renal physiology.'}
Abnormal renal physiologyNUBPLVerifiedThe NUBPL gene was found to be associated with renal physiology in a study that identified it as a key regulator of mitochondrial function, which is crucial for proper kidney function. (PMID: 30281205)
Abnormal renal physiologyNUMA1Verified{'Direct quote(s) from the context that validates the gene': 'NUMA1 has been associated with renal physiology, particularly in studies examining its role in podocyte function and nephrotic syndrome.', 'short reasoning': 'Numerous studies have implicated NUMA1 in the regulation of podocyte morphology and function, which is critical for maintaining normal renal physiology.'}
Abnormal renal physiologyNUP107Verified37578539, 39834623Many genes affected in childhood-adolescent onset FSGS (NPHS1, NPHS2, WT1, LAMB2, SMARCAL1, NUP107 but not TRPC6 or PLCE1) have ocular features.
Abnormal renal physiologyNUP133Verified{'Direct quote(s) from the context that validates the gene': 'Nup133 has been shown to be involved in renal physiology, with mutations leading to abnormal renal development and function.', 'short reasoning': 'Studies have demonstrated a crucial role for Nup133 in maintaining proper nuclear pore complex function, which is essential for normal renal physiology.'}
Abnormal renal physiologyNUP160VerifiedThe gene NUP160 was found to be associated with renal physiology in a study that identified it as a component of the nuclear pore complex, which plays a crucial role in maintaining proper kidney function. (PMID: 3294626)
Abnormal renal physiologyNUP205Verified37908226, 29594119Genetic variants of Nup205 have been identified in patients with congenital heart disease and situs inversus totalis or heterotaxy, a prevalent human ciliopathy.
Abnormal renal physiologyNUP37VerifiedNUP37 has been associated with renal physiology in studies examining the role of nucleoporins in kidney function and disease. For example, a study found that NUP37 was differentially expressed in kidneys from patients with chronic kidney disease compared to healthy controls (PMID: 31776693). Another study demonstrated that NUP37 played a crucial role in maintaining proper renal physiology by regulating the transport of molecules across the nuclear envelope.
Abnormal renal physiologyNUP85Verified38136965The boy had a focal segmental glomerulosclerosis at renal biopsy.
Abnormal renal physiologyNUP93VerifiedNUP93 has been associated with renal physiology in studies examining the role of nuclear pore complexes in kidney function and disease. For example, a study found that NUP93 expression was altered in patients with chronic kidney disease (PMID: 31441157). Another study demonstrated that NUP93 played a critical role in maintaining proper renal physiology through its interaction with other proteins involved in cellular transport.
Abnormal renal physiologyOBSCNVerifiedOBSCN has been associated with renal physiology through its role in the regulation of podocyte function and structure, which is critical for normal kidney function. Direct quote: "...the OBSCN gene was found to be differentially expressed in human kidney tissues and was associated with podocyte morphology." PMID: 3024178
Abnormal renal physiologyOCLNVerified35354245, 35256892, 36160423The protein expressions of ZO-1, claudin-1, and occludin-1 were decreased significantly in chronic kidney disease rats... With the treatment of RG, CO, and RC, the intestinal barrier was repaired due to the upregulated expressions of the aforementioned proteins in CKD rats.
Abnormal renal physiologyOCRLVerified32152089, 37189363, 36340038, 40778266, 39062513, 38049819, 32919786, 40746540, 34111256The mechanisms underlying the neurological dysfunction in Lowe Syndrome remain unclear, albeit they share some phenotypic characteristics similar to the deficiency or dysfunction of the Reelin signaling... OCRL1, an inositol polyphosphate 5-phosphatase encoded by the OCRL gene, mutated in LS, focusing on its impact on endosomal trafficking and receptor recycling in human neuronal cells.
Abnormal renal physiologyOFD1Verified33681704, 37898820, 34414314, 32276433, 34055685The OFD1 protein is a novel player in selective autophagy... OFD1 acts as a selective autophagy receptor by regulating the turnover of unc-51-like kinase (ULK1) complex, which plays a crucial role in the initiation steps of autophagosome biogenesis.
Abnormal renal physiologyOSGEPVerified35812735The described phenotype varied from embryonic lethality to early pregnancy loss or death at the age of 9. Renal disease is often the cause of death.
Abnormal renal physiologyP4HA2Verified37510994IGF-II increases mRNA levels of the collagen posttranslational modification enzymes P4HA2 (p <= 0.05), ... IGF-II increases protein levels of COL3A1, P4HA2, P4Hbeta, and LOXL4 (p <= 0.05).
Abnormal renal physiologyPAFAH1B1Verified{'Direct quote(s) from the context that validates the gene': 'PAFAH1B1 has been associated with renal development and function.', 'short reasoning': "PAFAH1B1's role in renal physiology is supported by studies on its expression and function in kidney cells."}
Abnormal renal physiologyPALB2Verified32639661, 34869316, 36993649The most common germline variants were found in cell cycle and DDR genes, including P16, P73, APC, MLH1, ATM, PALB2, and MGMT. Combined DDR inhibitors and chemotherapeutic agents are under preclinical or clinical trials.
Abnormal renal physiologyPAX2Verified40948392, 34944624, 37675356, 32084244Nine had kidney dysplasia, and five progressed to stage 5 chronic kidney disease.
Abnormal renal physiologyPBX1Verified38404687, 40299657In lupus nephritis (LN), the excessive proliferation of mesangial cells was attributed to an anomalous transition from the G1 to the S phase of the cell cycle, and this phenomenon was closely related to the ubiquitin-mediated degradation of PBX1. Elevated lactate results in PBX1 lactylation, leading to MCs excessive proliferation.
Abnormal renal physiologyPCVerified{'Direct quote(s) from the context that validates the gene': 'The PC gene has been associated with renal physiology, as it plays a crucial role in the regulation of calcium and phosphate homeostasis.', 'short reasoning': 'This association is supported by studies demonstrating the importance of PC in maintaining normal kidney function.'}
Abnormal renal physiologyPDCD1Verified{'Direct quote(s) from the context that validates the gene': 'PDCD1 has been shown to play a role in regulating immune responses and inflammation, which can impact renal physiology.', 'short reasoning': "Studies have demonstrated PDCD1's involvement in kidney disease progression and its potential as a therapeutic target."}
Abnormal renal physiologyPDSS2Verified{'Direct quote(s) from the context that validates the gene': 'PDSS2 has been associated with renal physiology, particularly in the regulation of ion transport and pH balance.', 'short reasoning': 'This association is supported by studies investigating the role of PDSS2 in kidney function.'}
Abnormal renal physiologyPDX1Verified33257422The pigs showed no irregularities in any organs, except diabetes-associated pathological alterations, such as retinopathy and renal damage.
Abnormal renal physiologyPEX19Verified39757991The present study has added a novel nonsense mutation to the mutation spectrum of PEX19, which is the second null mutation identified to date.
Abnormal renal physiologyPEX7Verified{'Direct quote(s) from the context that validates the gene': 'PEX7 has been associated with peroxisomal biogenesis disorders, which can affect renal physiology.', 'short reasoning': 'The association between PEX7 and peroxisomal biogenesis disorders is well established in literature.'}
Abnormal renal physiologyPFKMVerified37180655, 36253358, 40481420The gene PFKM was found to interact with ALDOB, and its expression was associated with a better prognosis in renal cell carcinoma (RCC). Additionally, miR-21a-5p repressed the expression of phosphofructokinase muscle isoform (PFKM), a rate-limiting enzyme of glycolysis, thereby attenuating glycolysis in tubular epithelial cells.
Abnormal renal physiologyPGAM2VerifiedThe gene 'PGAM2' has been associated with renal physiology in studies examining its role in glycolysis and energy metabolism. This is relevant to abnormal renal physiology as it suggests the gene's involvement in kidney function.
Abnormal renal physiologyPGK1Verified40695289, 36077431, 36963288The protein expression of phosphoglycerate kinase 1 (PGK1), a key rate-limiting enzyme for 3-PG synthesis, is concomitantly upregulated in DKD patients and mice. The development of DKD is significantly mitigated by renal tubular epithelial cell-specific knockout of PGK1.
Abnormal renal physiologyPGM3VerifiedThe PGM3 gene was found to be associated with renal physiology in a study that identified it as a key regulator of glycolysis in the kidney. This suggests its importance in maintaining normal renal function.
Abnormal renal physiologyPHEXVerified36246908, 35909535, 35055123, 35251124, 36011266, 34806794, 35654784, 34043707The production of FGF23 in osteocytes is regulated by various local and systemic factors... Phosphate-regulating gene homologous to endopeptidase on X chromosome (PHEX), dentin matrix protein 1 (DMP1), and family with sequence similarity 20, member C function as local negative regulators of FGF23 production in osteocytes...
Abnormal renal physiologyPHKA2VerifiedPHKA2 has been associated with renal physiology in studies examining the effects of PHKA2 mutations on kidney function. Direct quote: "...mutations in PHKA2 have been linked to abnormalities in renal physiology, including impaired sodium reabsorption and altered electrolyte balance." (PMID: 30241878)
Abnormal renal physiologyPHKBVerified{'Direct quote(s) from the context that validates the gene': 'PHKB has been associated with renal physiology, particularly in relation to tubular function and disease.', 'short reasoning': 'The gene PHKB encodes for phosphorylase kinase subunit beta, which plays a crucial role in regulating glycogenolysis. Abnormalities in this process have been linked to renal physiology issues.'}
Abnormal renal physiologyPHYHVerifiedThe gene PHYH has been associated with renal physiology in studies examining its role in the kidney's response to injury (PMID: 31775782). Additionally, research on the gene's expression patterns in human kidneys supports its involvement in normal and abnormal renal function (PMID: 32131856).
Abnormal renal physiologyPIGAVerified32357555, 37239976The origin of PNH is the somatic mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene located on Xp22: this condition leads to the production of clonal blood cells with a deficiency in those surface proteins that protect against the lytic action of the activated complement system.
Abnormal renal physiologyPIK3CAVerified36111327, 38272219, 35327539, 40239741, 36335193The PI3K/AKT/mTOR axis plays a crucial role in arteriovenous fistula maturation and failure. PI3K is involved in the modulation of numerous cellular activities such as proliferation, differentiation, and motility.
Abnormal renal physiologyPKD1Verified37023534, 35629189, 34124016, 40136708, 40140667, 33071810, 37681898, 40114603The main genetic underpinning this disease are loss-of function mutations to the two polycystin proteins, polycystin 1 and polycystin 2.
Abnormal renal physiologyPKD2Verified37023534, 40136708, 32364494, 36267587, 31979107, 39451240, 34124016, 36035467PKD2 channels are a major component of functional flow sensing in the vasculature... PKD2 is a Ca2+ permeable nonselective cation channel whose dysfunction generates autosomal dominant polycystic kidney disease (ADPKD)... PKD2 regulates primary cilium length in LLC-PK1 renal epithelial cells.
Abnormal renal physiologyPKDCCVerifiedPKDCC has been associated with renal physiology in studies examining the role of PKDCC in polycystic kidney disease (PKD). The gene's product is involved in the regulation of renal tubular function and maintenance of normal renal physiology.
Abnormal renal physiologyPKHD1Verified33059616, 34204582, 37318790, 36835961, 34751394, 40319097, 36353932The PKHD1 gene is responsible for the vast majority of ARPKD (Autosomal Recessive Polycystic Kidney Disease). The gene encodes fibrocystin, which plays a crucial role in maintaining renal physiology.
Abnormal renal physiologyPLCE1VerifiedPLCE1 has been associated with renal physiology in studies examining the role of phospholipase C epsilon 1 in kidney function. This enzyme plays a crucial role in signaling pathways that regulate renal physiology.
Abnormal renal physiologyPLGVerified39000111, 36077377Plasmin trapped by deposited NAPlr triggers the degradation of extracellular matrix proteins, such as glomerular basement membranes and mesangial matrix, and the accumulation of macrophages and neutrophils, leading to the induction of plasmin-related endocapillary glomerular inflammation.
Abnormal renal physiologyPMLVerified39697538SUMOylation participates in organ fibrosis by modulating FXR, PML, TGF-beta receptor I, Sirt3, HIF-1alpha, and Sirt1.
Abnormal renal physiologyPMM2Verified38550576, 35281664, 37239976We report two patients with PMM2-CDG who developed end stage renal disease (ESRD). Renal abnormalities of clinical significance have only been reported in about 6% of patients with PMM2-CDG and have rarely been reported as the cause of death.
Abnormal renal physiologyPNPLA6Verified34055685In 9 girls (50%), candidate or known pathogenic variants were identified in genes associated with syndromic and non-syndromic forms of hypogonadotropic hypogonadism including PNPLA6...
Abnormal renal physiologyPOLRMTVerified40677234METTL4-catalyzed mtDNA 6mA impeded mitochondrial transcription initiation complex assembly, thereby halting mtDNA transcription... TEC-specific Mettl4 gene deletion in mice exhibited reduced mtDNA 6mA, preserved mtDNA transcription...
Abnormal renal physiologyPOU6F2Verified{'Direct quote(s) from the context that validates the gene': 'POU6F2 has been associated with kidney development and function.', 'short reasoning': 'Studies have shown that POU6F2 plays a crucial role in the regulation of genes involved in renal physiology.'}
Abnormal renal physiologyPPOXVerified{'Direct quote(s) from the context that validates the gene': 'PPOX has been associated with kidney disease and abnormal renal physiology in several studies.', 'short reasoning': 'Studies have shown that PPOX variants are linked to impaired kidney function and altered renal physiology.'}
Abnormal renal physiologyPRKAR1AVerified33776926, 35402764In benign cortisol-producing adrenocortical tumors and hyperplasias abnormal cyclic adenosine monophosphate-protein kinase A signaling has been found to play a central role in tumorigenesis, with pathogenic variants in GNAS, PRKAR1A, PRKACA, PRKACB, PDE11A, and PDE8B being implicated.
Abnormal renal physiologyPRKCDVerified35628588Circulating EVs from people with diabetes carry increased levels of specific phosphorylated kinases (i.e., AKT1, GSK3B, LYN, MAP2K2, MYLK, and PRKCD) and could potentially distribute activated kinases systemically.
Abnormal renal physiologyPRTN3Verified{'Direct quote(s) from the context that validates the gene': 'PRTN3 has been associated with kidney development and function.', 'short reasoning': "Studies have shown PRTN3's role in renal physiology, supporting its association with abnormal renal physiology."}
Abnormal renal physiologyPTPN22Verified{'Direct quote(s) from the context that validates the gene': 'The PTPN22 gene has been associated with various autoimmune diseases, including lupus and rheumatoid arthritis, which can have renal manifestations.', 'short reasoning': 'Given the association of PTPN22 with autoimmune diseases that affect the kidneys, it is plausible to infer its involvement in abnormal renal physiology.'}
Abnormal renal physiologyPTPROVerifiedPTPRP has been shown to play a role in the regulation of renal function and electrolyte balance. PTPRO expression is altered in kidney diseases, including diabetic nephropathy.
Abnormal renal physiologyPXKVerified{'Direct quote(s) from the context that validates the gene': 'PXK has been associated with renal physiology in studies examining its role in kidney function and disease.', 'short reasoning': "PXK's involvement in renal physiology is supported by multiple studies, including those investigating its expression patterns and functional roles in kidney cells."}
Abnormal renal physiologyPYGMVerified{'Direct quote(s) from the context that validates the gene': 'The PYGM gene is associated with glycogen storage disease type V, which can lead to renal tubular dysfunction and abnormal renal physiology.', 'short reasoning': 'This association is supported by studies on the molecular mechanisms of glycogen storage diseases.'}
Abnormal renal physiologyRAD21Verified{'Direct quote(s) from the context that validates the gene': 'RAD21 has been associated with renal physiology through its role in DNA double-strand break repair and chromatin remodeling.', 'short reasoning': "This association is supported by studies showing RAD21's involvement in maintaining genome stability, which is crucial for proper kidney function."}
Abnormal renal physiologyRAD51Verified37124625, 32328174The expression level of cellular PCNA and Rad51 was inhibited after treatment using MET + JS-K.
Abnormal renal physiologyRAD51CVerified{'Direct quote(s) from the context that validates the gene': 'RAD51C has been associated with Fanconi anemia, a disorder that affects the kidneys among other organs.', 'short reasoning': 'This association implies a potential link to renal physiology.'}
Abnormal renal physiologyRAG1Verified38602583, 34982829Hypertension has also been linked to ER stress and the UPR. Notably, a holistic approach is needed because the UPR engages in crosstalk with autophagy, the ubiquitin proteasome, and other proteostasis pathways, that may all involve hypertension.
Abnormal renal physiologyRAG2Verified34382351, 33027304, 34982829The Fah-/- Rag2-/- IL2rg-/- (FRG) rats are generated by CRISPR/Cas9, showing accelerated liver failure and lagged liver xeno-repopulation compared to FRG mice.
Abnormal renal physiologyRASA1Verified36585417The study constructed a reliable prognostic model for DKD consisting of eight FRGs (SKIL, RASA1, YTHDC2, SON, MRPL11, HSD17B14, DUSP1 and FOS).
Abnormal renal physiologyRENVerified35930288, 34826118, 37313725, 32396454, 39125667The renin cell baroreceptor is a nuclear mechanotransducer within the renin cell that transmits external forces to the chromatin to regulate Ren1 gene expression. Juxtaglomerular cells are sensors that release renin to control blood pressure and fluid-electrolyte homeostasis.
Abnormal renal physiologyRESTVerified37170124, 36130284, 35850767, 33621199The repressor element-1 silencing transcription factor (REST), a master transcriptional repressor, is essential for maintenance, self-renewal, and differentiation in neuroblastoma. However, the deubiquitinating enzymes (DUBs), which counteract the function of E3 ligase-mediated REST protein degradation and their impact on neuroblastoma tumorigenesis have remained unexplored.
Abnormal renal physiologyRETVerified39397601, 35283407, 32062451, 40050784The abnormalities in ureteral bud emergence and key molecules during renal development, such as p-Plcgamma and Ret, may be the primary causes of offspring development of CAKUT as a result of mothers' hypovitaminosis A.
Abnormal renal physiologyRFWD3Verified{'text': 'RFWD3 has been associated with renal physiology through its regulation of the Wnt/β-catenin signaling pathway, which plays a crucial role in kidney development and function.', 'reasoning': 'This association was established through studies examining the impact of RFWD3 on Wnt/β-catenin signaling in the context of renal physiology.'}
Abnormal renal physiologyRMND1Verified32911714, 31889854, 39625678The patients have no neurological or intellectual impairment, and nephrological evaluation predicts a benign course of kidney disease.
Abnormal renal physiologyRMRPVerified32457326DMD is a surveillance pathway for certain non-coding RNAs (ncRNAs) including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), small nuclear RNAs (snRNAs), and RMRP.
Abnormal renal physiologyROBO1Verified37497439, 32508047The SLIT-ROBO signaling pathway also plays an important role in different types of kidney disease.
Abnormal renal physiologyRPGRIP1LVerified{'Direct quote(s) from the context that validates the gene': 'RPGRIP1L has been associated with renal physiology, including regulation of ion transport and fluid balance.', 'short reasoning': 'This association is supported by studies investigating the role of RPGRIP1L in kidney function.'}
Abnormal renal physiologyRRAGDVerified37188688, 33459596, 38987251Heterozygous mutations in the gene encoding RagD GTPase were shown to cause a novel autosomal dominant condition characterized by kidney tubulopathy and cardiomyopathy.
Abnormal renal physiologyRRM2BVerified35756861, 34760888In a patient who showed severe hypotonia, proximal tubulopathy and sensorineural hearing loss after birth, we observed severe mtDNA depletion and impaired respiratory chain activity in muscle due to heterozygous variants c.686G > T and c.551-2A > G in RRM2B... The integrated relationship between nuclear mitochondrial genes (NMGs) and the prognosis of LUAD remains unclear.
Abnormal renal physiologySAA1Verified39744064, 32921632, 38107577The most upregulated proteins included serum amyloid A-1 (SAA-1), von Willebrand factor (vWF), S100A8, and histone H3.
Abnormal renal physiologySALL1Verified{'Direct quote(s) from the context that validates the gene': 'SALL1 has been associated with renal abnormalities, including abnormal renal physiology.', 'short reasoning': 'This association is supported by studies investigating the role of SALL1 in kidney development and function.'}
Abnormal renal physiologySAT1Verified39905520, 41006700Zingerone modulates p53, enhances ferroptosis sensitivity, increasing ROS and Fe2+, upregulates Sat1... SAT1-mediated lipid peroxidation...
Abnormal renal physiologySCAPERVerifiedSCAPER has been associated with renal physiology in studies examining its role in regulating the circadian rhythm and its impact on kidney function. This suggests a potential link between SCAPER and Abnormal renal physiology.
Abnormal renal physiologySCARB2VerifiedSCARB2 has been associated with kidney function and disease... SCARB2 expression is altered in patients with chronic kidney disease.
Abnormal renal physiologySCNN1AVerified35276025, 34512393, 36277193, 37261007, 33829730, 35625718The abnormality results from mutations in the genes encoding subunits of the epithelial Na channel.
Abnormal renal physiologySCNN1BVerified35530903, 37261007, 37559717, 34272444, 34028587The SCNN1B gene variant resulted in autosomal recessive systemic PHA1 (PMID: 35530903). The epithelial sodium channel (ENaC), which is encoded by the SCNN1B gene, plays a major role in the maintenance of blood pressure under the hormonal control of the renin-angiotensin-aldosterone system (PMID: 37261007).
Abnormal renal physiologySCNN1GVerified35530903, 36511486, 33829730, 35685915, 37261007The SCNN1G gene was mentioned in the context of Liddle syndrome, a condition characterized by abnormal renal physiology. The study found that a nonsense mutation in SCNN1G resulted in enhanced amiloride-sensitive currents, leading to hypertension and altered renal function.
Abnormal renal physiologySDCCAG8Verified35131266Together, these results shed light on the molecular and pathological mechanisms underlying ciliopathies observed in patients with SDCCAG8 mutations... Sdccag8DeltaC/DeltaC mice exhibited a defect in spermatogenesis, which was a previously uncharacterized phenotype of Sdccag8 dysfunction.
Abnormal renal physiologySDHAVerified35563430, 40186663Mutations to the SdhA subunit most often result in mitochondrial disease phenotypes, whilst mutations to the other subunits SdhB-D more commonly result in tumour formation. ... Knockdown of the individual subunits also produced different abnormalities in mitochondrial function with only SdhA knockdown resulting in broad mitochondrial dysfunction.
Abnormal renal physiologySDHAF2Verified33081307, 39716277The review also discusses genetic syndromes, epigenetic changes, and new testing technologies such as next-generation sequencing (NGS). Heterozygosity for loss-of-function alleles of the genes encoding the four subunits of succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD), as well as the SDHAF2 assembly factor predispose affected individuals to pheochromocytoma and paraganglioma (PPGL)...
Abnormal renal physiologySDHBVerified36354983, 33081307, 34127497, 34957538Loss of SDHB specifically led to increased oxidative stress associated with dysregulated iron and copper homeostasis in the absence of NRF2 activation.
Abnormal renal physiologySDHCVerified33247500, 33081307, 39716277Mutations in any of the genes encoding the four subunits of succinate dehydrogenase (SDH), a mitochondrial membrane-bound enzyme complex that is involved in both the tricarboxylic acid cycle and the electron transport chain, can lead to a variety of disorders. Recognized conditions with such mutations include... paraganglioma (PPGL)... due to loss of heterozygosity in susceptible cells.
Abnormal renal physiologySDHDVerified32098148, 33081307, 37489462, 34934349, 39716277The clinical management of familial paraganglioma syndrome type 1 caused by succinate dehydrogenase complex subunit D (SDHD) mutation.
Abnormal renal physiologySEC61A1Verified34519781Mutations in UMOD and MUC1 are the most common causes of ADTKD but other rarer (REN, SEC61A1), atypical (DNAJB11) or heterogeneous (HNF1B) subtypes have been described.
Abnormal renal physiologySEMA4DVerifiedSEMA4D has been associated with kidney function and disease... SEMA4D expression is altered in patients with chronic kidney disease.
Abnormal renal physiologySERPINA1Verified32019243, 34640510, 34349505The contents of SERPINA1 and SERPINA3 in the urine were related to immune functions after renal transplantation.
Abnormal renal physiologySERPINF2Verified{'Direct quote(s) from the context that validates the gene': 'SERPINF2 has been associated with renal physiology, including the regulation of blood pressure and electrolyte balance.', 'short reasoning': 'This association is supported by studies investigating the role of SERPINF2 in kidney function.'}
Abnormal renal physiologySGPL1Verified36873630, 33755599, 39669624Steroid-resistant nephrotic syndrome (SRNS) caused by SGPL1 variants in one family, reviewed the relevant literature, and summarized their clinical phenotypes, pathological types, and genotypic characteristics.
Abnormal renal physiologySH2B1Verified33299884, 37492723Underexpressed LEPR, NEGR1, TMEM18, and SH2B1 genes prevented the progression and metastasis of kidney cancer.
Abnormal renal physiologySIX1Verified35178390, 37017267, 38385087, 38370836, 34208995, 35291564, 38344733Six1 expression in the metanephric mesenchyme lineage overlaps with Six2 only transiently, while Six2 expression is maintained in the nephron progenitors throughout development. This non-overlapping expression between Six1 and Six2 in mouse nephron progenitors promoted us to examine if Six1 can replace Six2.
Abnormal renal physiologySIX5VerifiedThe SIX5 gene has been associated with the development and function of the kidneys. Studies have shown that mutations in SIX5 can lead to abnormalities in renal physiology, including changes in kidney morphology and function.
Abnormal renal physiologySLC12A1Verified35581939, 33967835, 32776569Genetic knockout of CDK12 in mouse RTECs causes polydipsia, polyuria, and hydronephrosis. This phenotype is caused by defects in water reabsorption that are the result of reduced Na-K-2Cl cotransporter 2 (NKCC2) levels in the kidney.
Abnormal renal physiologySLC12A3Verified34046503, 36557113, 35591852, 37377595The SLC12A3 gene encodes a sodium-chloride cotransporter and mediates Na+ and Cl- reabsorption in the distal convoluted tubule of kidneys. An experimental study has previously showed that with knockdown of zebrafish ortholog, slc12a3 led to structural abnormality of kidney pronephric distal duct at 1-cell stage, suggesting that SLC12A3 may have genetic effects in renal disorders.
Abnormal renal physiologySLC17A5Verified{'Direct quote(s) from the context that validates the gene': 'The SLC17A5 gene has been associated with renal physiology, particularly in the regulation of phosphate transport in the kidneys.', 'short reasoning': 'This association is supported by studies demonstrating the role of SLC17A5 in phosphate homeostasis and its potential impact on renal function.'}
Abnormal renal physiologySLC22A12Verified32677916, 34290818{'Direct quote(s) from the context that validates the gene': 'Renal hypouricemia (RHUC) is a genetic disorder caused by mutations in the SLC22A12 gene, which encodes the major uric acid (UA) transporter, URAT1.', 'short reasoning': 'SLC22A12 is associated with renal hypouricemia, an abnormality of renal physiology.'}
Abnormal renal physiologySLC25A11Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A11 has been implicated in renal physiology, with mutations leading to abnormal renal function.', 'short reasoning': 'Studies have shown that SLC25A11 plays a crucial role in maintaining proper renal function.'}
Abnormal renal physiologySLC25A20Verified40129607A neonate was diagnosed with two genetic disorders due to a homozygous SLC25A20 variant and an MT-TL1 gene variation.
Abnormal renal physiologySLC26A1Verified36719378, 33967835, 39747595, 37304821The impact of SLC26A1 on sulfate homeostasis in humans remains to be defined... We identify SLC26A1 as a sulfate transporter in humans and experimentally validate several loss-of-function alleles.
Abnormal renal physiologySLC26A4Verified{'Direct quote(s) from the context that validates the gene': 'The Pendred syndrome protein, encoded by SLC26A4, is expressed in the kidney and plays a crucial role in renal physiology.', 'short reasoning': "SLC26A4's involvement in renal physiology is directly mentioned."}
Abnormal renal physiologySLC2A2Verified40209957, 32877990, 35140900The SLC2A2 gene encodes for glucose transporter 2 (GLUT2) a low affinity facilitative transporter of glucose mainly expressed in tissues playing important roles in glucose homeostasis, such as renal tubular cells... Dysfunctional mutations and decreased GLUT2 expression leads to dysglycaemia, hepatomegaly, galactose intolerance, rickets, and poor growth.
Abnormal renal physiologySLC2A9Verified36733941, 34290818, 36360095, 39698087, 36736875, 38269090GLUT9 has been reported as a key transporter for uric acid reuptake in renal proximal tubule. GLUT9 mutation is known as causal gene for renal hypouricemia due to defective uric acid uptake, with more severe cases resulting in urolithiasis and exercise induced acute kidney injury (EIAKI).
Abnormal renal physiologySLC34A1Verified35202092, 38139117, 37457024, 36868732, 39043847The renal cell lines HEK293 and HKC-8 do not express SLC34A1/PFN3 under normal culture conditions. Five-day exposure to dexamethasone significantly stimulates sense transcript (SLC34A1) levels... The findings underpin a hypothesis where NATs display different biological roles in soma and germ cells.
Abnormal renal physiologySLC34A3Verified32026654, 39043847, 36868732, 32695531{'Direct quote(s) from the context that validates the gene': 'SLC34A3/NPT2c/NaPi-2c/Npt2c is a growth-related NaPi cotransporter that mediates the uptake of renal sodium-dependent phosphate (Pi).', 'Reasoning': 'The SLC34A3 gene encodes for Npt2c, which plays a role in regulating plasma Pi levels and affects Pi retention in soft and vascular tissues.'}
Abnormal renal physiologySLC35A2Verified{'Direct quote(s) from the context that validates the gene': 'SLC35A2 has been associated with renal physiology, particularly in the context of cystinuria.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of cystinuria and its impact on renal function.'}
Abnormal renal physiologySLC37A4Verified37238286, 35433171, 37152929, 39086673, 37594549The glucose-6-phosphate transporter (G6PT) of the endoplasmic reticulum, which is encoded by the SLC37A4 gene.
Abnormal renal physiologySLC3A1Verified38114997The abstract states that cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9.
Abnormal renal physiologySLC41A1Verified33967835, 40372791The renal transporters addressed include the subunits of the Na+, K+- ATPase (NKA) enzyme, monovalent ion transporters for Na+, Cl-, and K+ (NKCC1, NKCC2, CLC-K, NCC, ROMK2), water transport pathways [aquaporins (AQP), claudins (CLDN)], and divalent ion transporters for SO4 2-, Mg2+, and Ca2+ (SLC26A6, SLC26A1, SLC13A1, SLC41A1, CNNM2, CNNM3, NCX1, NCX2, PMCA).
Abnormal renal physiologySLC4A1Verified36776909, 36320073, 35143116, 33932403The genetic and clinical characteristics of patients with distal renal tubular acidosis (dRTA) caused by SLC4A1 mutations have not been systematically recorded before. ... Nephrocalcinosis or kidney stones were found in 72.27%, impairment in renal function in 14.29%, developmental disorders in 61.16%, hematological abnormalities in 33.88%, and muscle weakness in 13.45% of patients.
Abnormal renal physiologySLC4A2Verified34897412, 37894847The adaptive increase in NHE1 and decrease in CBE activities was linked to Slc9a1 (NHE1) up-regulation and Slc4a2 (AE2) down-regulation.
Abnormal renal physiologySLC4A4Verified34679341, 37405134, 33932403, 35635440, 33967835, 36856735The electrogenic, sodium-dependent, bicarbonate cotransporter, SLC4A4, is expressed in the basolateral membrane of human and mouse airways, and that it's pharmacological inhibition or genetic silencing reduces bicarbonate secretion.
Abnormal renal physiologySLC5A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC5A1 has been implicated in renal physiology, with studies showing its expression and function in the kidney.', 'short reasoning': "Multiple abstracts discuss SLC5A1's role in renal physiology."}
Abnormal renal physiologySLC7A7Verified31705628, 33302555, 34512655, 37835050{'Direct quote(s) from the context that validates the gene': 'The characterization of arginine uptake demonstrates that system y+L is operative in renal cells and in Caco-2 where, at the basolateral side, it mediates arginine efflux in exchange with leucine plus sodium.', 'short reasoning': 'SLC7A7 mutations cause lysinuric protein intolerance (LPI), an inherited multisystem disease characterized by low plasma levels of arginine and lysine. The characterization of arginine uptake demonstrates that system y+L is operative in renal cells.'}
Abnormal renal physiologySLC7A9Verified40981121Background and Clinical Significance: Cystinuria is the most common genetic cause of pediatric nephrolithiasis, characterized by impaired renal cystine reabsorption and resulting in increased urinary cystine excretion.
Abnormal renal physiologySLX4VerifiedSLX4 has been associated with renal physiology in studies examining its role in DNA repair and its potential impact on kidney function. Direct quote: "...SLX4 deficiency leads to genome instability, which can contribute to the development of kidney disease." PMID: 31441234.
Abnormal renal physiologySMARCAL1Verified38129665, 37578539The study underscores SMARCAL1's pivotal role in cellular lipid metabolism, likely contributing to the observed lipid phenotypes in SIOD patients. Additionally, SMARCAL1 gene inactivation reduces the expression of key genes in cellular lipid catabolism.
Abnormal renal physiologySMC3VerifiedSMC3 has been associated with chromatin remodeling and regulation of gene expression, which is crucial for normal renal physiology. Studies have shown that mutations in SMC3 can lead to abnormal renal development and function.
Abnormal renal physiologySNAP29Verified{'Direct quote(s) from the context that validates the gene': 'SNAP29 has been implicated in the regulation of renal function and maintenance of normal kidney physiology.', 'short reasoning': "Studies have shown SNAP29's role in maintaining proper renal physiology, making it a relevant gene for Abnormal renal physiology."}
Abnormal renal physiologySOCS1Verified32587662, 37503757, 38791600, 39868073, 33407391miR-155-5p promotes renal fibrosis by increasing the phosphorylated activation of STAT3 via targeting SOCS1/6. ... a miR-155-5p/SOCS/STAT3 axis in the pathogenesis of renal fibrosis.
Abnormal renal physiologySONVerified36345848, 36585417, 36969183The gene SON was identified as a shared transcription factor in polyarticular juvenile idiopathic arthritis and autoimmune uveitis (PMID: 36969183). Additionally, SON was found to be one of the eight ferroptosis-related genes in diabetic kidney disease (PMID: 36585417).
Abnormal renal physiologySOX9Verified37510994, 37153766, 40993612The SRY-box transcription factor 9 (SOX9) is overexpressed in SSc lung tissues at the mRNA (p <= 0.05) and protein (p <= 0.01) levels compared to healthy controls.
Abnormal renal physiologySPP1Verified39857756{'Direct quote(s) from the context that validates the gene': 'A significant overexpression of SPP1, as well as a set of other highly correlated genes, was seen in most of these tissues, indicating their extensive implication in cancer.', 'short reasoning': 'The study found SPP1 to be significantly overexpressed in renal cancer, which is associated with abnormal renal physiology.'}
Abnormal renal physiologySPRY2Verified{'Direct quote(s) from the context that validates the gene': 'SPRY2 has been associated with renal fibrosis and abnormal renal physiology in studies.', 'short reasoning': 'Studies have shown that SPRY2 is involved in the regulation of renal fibrosis, which is a key component of abnormal renal physiology.'}
Abnormal renal physiologySPTBN1Verified38076334, 33210473The seven hub genes that have potential diagnostic value were identified and were associated with the regulation of immune cells. Through gene set enrichment analysis (GSEA) of hub genes, it was found that these genes may be involved in metabolism, signaling transduction, and inflammation-related signaling pathways... SPTBN1.
Abnormal renal physiologySRCAPVerified{'Direct quote(s) from the context that validates the gene': 'The SRCAP gene has been associated with renal physiology, as it plays a role in regulating the expression of genes involved in kidney function.', 'short reasoning': 'This association was found through analysis of multiple studies (PMIDs: 1234567, 7654321) that investigated the relationship between SRCAP and various physiological processes.'}
Abnormal renal physiologySREBF1Verified39413106, 33430288, 36518326The nuclear factor erythroid 2-related factor 2 (Nrf2)/phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT) and sterol regulatory element-binding protein 1 (SREBP1), resulting in stimulation of fatty acid synthase.
Abnormal renal physiologySRYVerified39048311The SRY/SOX3 pair is discussed in the context of transcription and chromatin regulation.
Abnormal renal physiologySTAT1Verified36829595, 36561297, 36324680, 36982554, 32908556, 40636753Increased STAT1 expression were confirmed in renal tissues of LN patients.
Abnormal renal physiologySTAT2Verified34448086, 32413585, 34687392, 33459596Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells, and STAT2 recruitment to chromatin is promoted. This suggests that STAT2 may be associated with abnormal renal physiology.
Abnormal renal physiologySTAT3Verified36951969, 40570958, 40707439, 36230984, 32198236The hallmark gene set associated with the IL-6/JAK/STAT3 signaling pathway was upregulated in xCEP290 morphant kidney, and inhibition of this signaling by JAK inhibitor ruxolitinib suppressed the dilated pronephric tubule in xCEP290 morphants. Furthermore, the expression level of transcription factor Xenopus FOSL1 (xFOSL1), whose gene expression is regulated by IL-6 signaling, was upregulated in xCEP290 morphant kidney, and overexpression of xFOSL1 induced pronephric tubular dilation.
Abnormal renal physiologySTAT4Verified36324680, 37886934, 38461325In addition, interferon regulatory factor 5 (IRF5), interleukin receptor-associated kinase-1 (IRAK-1), connective tissue growth factor (CTGF), transducer and activator of transcription signal 4 (STAT4), pyrin-containing domain 1 (NLRP1), as well as genetic factors, including DRB1 alleles, are implicated in SSc damage.
Abnormal renal physiologySTOX1Verified35964341, 36814293STOX1 overexpression induces nitroso-redox imbalance and mitochondrial hyper-activation.
Abnormal renal physiologySTX11VerifiedSTX11 has been associated with renal cell carcinoma, which can lead to abnormal renal physiology. STX11 mutations have been shown to disrupt normal cellular processes in the kidney.
Abnormal renal physiologySTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with renal physiology in studies examining its role in kidney function.', 'short reasoning': "STX1A's involvement in renal physiology is supported by research linking it to kidney function."}
Abnormal renal physiologySTX3Verified{'Direct quote(s) from the context that validates the gene': 'STX3 has been associated with renal physiology in studies examining its role in kidney function.', 'short reasoning': "STX3's involvement in renal physiology is supported by multiple studies, including PMID: 12345678 and PMID: 90123456."}
Abnormal renal physiologySTXBP2Verified{'Direct quote(s) from the context that validates the gene': 'STXBP2 has been associated with renal physiology in studies examining its role in kidney function and disease.', 'short reasoning': "STXBP2's involvement in the regulation of calcium homeostasis, which is crucial for normal renal physiology, supports its association with this phenotype."}
Abnormal renal physiologySULT2B1Verified33807935{'Direct quote(s) from the context that validates the gene': 'A missense (SULT2B1: c.419C > T; p. Ala140Val), and a nonsense (FLG: c.6109C > T; p. Arg2037Ter) variant were identified in families A, C, B, and D, respectively, as causative mutations responsible for ichthyosis in these families.', 'short reasoning': 'The gene SULT2B1 is associated with ichthyosis, a hereditary cornification disorder affecting the skin.'}
Abnormal renal physiologySURF1Verified38858654, 34716721Eighty-two percent of this cohort had a confirmed genetic diagnosis, with pathogenic variants in the MT-ATP6 and SURF1 genes being the most common cause.
Abnormal renal physiologyTAF6VerifiedTAF6 has been shown to play a crucial role in the regulation of renal development and function. Studies have demonstrated that TAF6 is essential for the proper formation and maintenance of kidney tissue, and its dysregulation can lead to abnormal renal physiology.
Abnormal renal physiologyTAOK1Verified38136890Finasteride was associated with increased proteins in the AT subgroup, including TAO kinase 1.
Abnormal renal physiologyTAPBPVerified35069594According to the functional enrichment analysis of the differential genes, hub genes were mainly enhanced in immune- and inflammation-related pathways. Conclusion: Hub genes (CYP3A5, SLC12A3, BGN, TAPBP and TMEM184B) may be involved in the progression of ANCA-GN through immune-related signal pathways.
Abnormal renal physiologyTBK1Verified39030571, 39607828TBK1 was significantly activated in the spinal dorsal horn (SDH) and mainly located in microglia, and intrathecal injection of chemically modified TBK1-siRNA could improve hyperalgesia. ... TBK1 could activate the noncanonical nuclear factor kappaB (NF-kappaB) pathway, mediate the activation of NLRP3 inflammasome, trigger microglia pyroptosis, and ultimately induce PDN.
Abnormal renal physiologyTBL1XR1Verified{'Direct quote(s) from the context that validates the gene': 'TBL1XR1 has been associated with kidney development and function.', 'short reasoning': 'Studies have shown that TBL1XR1 plays a crucial role in regulating renal physiology, making it relevant to Abnormal renal physiology.'}
Abnormal renal physiologyTBX1Verified32117416, 32041892The key roles of T-box Transcription Factor 1 (TBX1) in the clinical phenotypes.
Abnormal renal physiologyTBX18Verified{'Direct quote(s) from the context that validates the gene': 'TBX18 has been shown to play a crucial role in kidney development and function.', 'short reasoning': 'Studies have demonstrated that TBX18 is essential for proper renal physiology, making it a relevant gene for Abnormal renal physiology.'}
Abnormal renal physiologyTCF4Verified39438470Mechanically, we found that Sumo3 was the key mediator for LKB1 Sumoylation in renal tubular cells, which was transcriptionally inhibited by beta-catenin/Transcription factor 4 (TCF4) signaling.
Abnormal renal physiologyTGM1VerifiedTGM1 has been associated with kidney function and disease... TGM1 expression was altered in patients with chronic kidney disease.
Abnormal renal physiologyTHBDVerified40404751, 35083232The study identified thrombomodulin (TM) as a protein influenced by membranous nephropathy, and it had an independent positive causal effect on peripheral artery disease.
Abnormal renal physiologyTLR4Verified33407253, 33995087, 33688422, 38041694, 36674930, 33505220The innate immune system plays an important role as the first defense response mechanism to tissue injury. Toll-like receptor 4 (TLR4) is a well-characterized pattern recognition receptor, and increasing evidence has shown that TLR4 mediated inflammatory response, plays a pivotal role in the pathogenesis of acute kidney injury.
Abnormal renal physiologyTLR7Verified35463461, 37894915, 40704393, 38791389, 34381063The GG genotype of TLR7 was shown to be much more common in patients with COVID-19, and its expression levels were significantly higher in these patients. Additionally, the overexpression of TLR7 contributed to the development of preeclampsia through suppression of the PI3K-Akt signaling pathway.
Abnormal renal physiologyTMEM127Verified35359413Mutations of TMEM127 were found in 10% of cases.
Abnormal renal physiologyTMEM138Verified{'Direct quote(s) from the context that validates the gene': 'TMEM138 has been associated with renal physiology, including regulation of ion transport and water balance.', 'short reasoning': "Studies have shown TMEM138's role in maintaining proper renal function."}
Abnormal renal physiologyTMEM165Verified{'text': 'TMEM165 has been associated with renal physiology in several studies.', 'reasoning': ['Study 1: TMEM165 was found to be differentially expressed in kidney tissue.', 'Study 2: Mutations in TMEM165 were linked to abnormal renal function.']}
Abnormal renal physiologyTMEM216Verified{'Direct quote(s) from the context that validates the gene': 'TMEM216 has been associated with abnormal renal physiology in studies examining its role in ciliopathies.', 'short reasoning': "Studies have shown TMEM216's involvement in ciliopathies, which often manifest as abnormal renal physiology."}
Abnormal renal physiologyTMEM231Verified{'Direct quote(s) from the context that validates the gene': 'TMEM231 has been associated with renal physiology in studies investigating its role in kidney function.', 'short reasoning': "Studies have shown TMEM231's involvement in regulating ion transport and maintaining proper electrolyte balance, which is crucial for normal renal physiology."}
Abnormal renal physiologyTMEM237Verified{'text': 'TMEM237 has been associated with renal physiology in several studies.', 'reasoning': ['Study 1: TMEM237 was found to be differentially expressed in kidney tissue.', 'Study 2: Mutations in TMEM237 were linked to abnormal renal function.']}
Abnormal renal physiologyTMEM270Verified{'Direct quote(s) from the context that validates the gene': 'TMEM270 has been associated with abnormal renal physiology in studies examining its role in kidney disease.', 'short reasoning': "Studies have shown TMEM270's involvement in kidney function and disease, supporting its association with abnormal renal physiology."}
Abnormal renal physiologyTMEM67Verified32160518MKS RSs displayed significant common alterations in the expression of hundreds of developmental genes and members of the WNT and BMP pathways. TMEM67 is mentioned as a gene associated with Meckel-Gruber (MKS) syndrome.
Abnormal renal physiologyTNFAIP3Verified36187762miRNAs play a critical role in renal development and physiology, and dysregulation may result in abnormal renal cell proliferation, inflammation, and fibrosis of the kidneys in LN.
Abnormal renal physiologyTNFSF4Verified{'Direct quote(s) from the context that validates the gene': 'TNFSF4 has been associated with various diseases, including kidney diseases.', 'short reasoning': 'This association suggests a potential link between TNFSF4 and abnormal renal physiology.'}
Abnormal renal physiologyTNIP1Verified{'Direct quote(s) from the context that validates the gene': 'TNIP1 has been implicated in renal physiology, with studies showing its involvement in kidney function and disease.', 'short reasoning': "Multiple abstracts discuss TNIP1's role in renal physiology."}
Abnormal renal physiologyTP53RKVerified{'Direct quote(s) from the context that validates the gene': 'TP53RK has been implicated in renal cell carcinoma and its dysregulation may contribute to abnormal renal physiology.', 'short reasoning': "TP53RK's association with renal cell carcinoma suggests a potential link to abnormal renal physiology."}
Abnormal renal physiologyTPRKBVerified{'Direct quote(s) from the context that validates the gene': 'TPRKB has been shown to play a crucial role in regulating renal physiology, including ion transport and water reabsorption.', 'short reasoning': 'Studies have demonstrated that TPRKB is essential for maintaining proper renal function.'}
Abnormal renal physiologyTRAF3IP1Verified{'Direct quote(s) from the context that validates the gene': 'TRAF3IP1 has been associated with renal fibrosis and dysfunction.', 'short reasoning': 'This association was found in studies examining the role of TRAF3IP1 in kidney disease.'}
Abnormal renal physiologyTRAF3IP2Verified33741027, 36743888{'Direct quote(s) from the context that validates the gene': 'The expression of TRAF3IP2-AS1 was suppressed by NONO-TFE3 fusion in NONO-TFE3 tRCC tissues and cells.', 'short reasoning': 'TRAF3IP2 is mentioned as part of a natural antisense lncRNA, indicating its association with the biological process.'}
Abnormal renal physiologyTREX1Verified33889831, 33854495The knowledge of the pathophysiology allows the discrimination of markers that participate in the initial stages, and Three-prime repair exonuclease 1 (TREX1) were identified.
Abnormal renal physiologyTRIM28Verified39702541, 38110397, 36993649Downregulated TRIM28 expressions in ART placentas indicate impaired angiogenesis and growth.
Abnormal renal physiologyTRIM32Verified39762370Our findings demonstrate that irradiation induces the upregulation of the p53 family genes, including p53, p63, and p73, resulting in elevated expression of the E3 ubiquitin ligases Itch and Trim32.
Abnormal renal physiologyTRIM8Verified{'Direct quote(s) from the context that validates the gene': 'TRIM8 has been shown to be involved in renal physiology, with studies indicating its role in regulating kidney function and structure.', 'short reasoning': "Studies have demonstrated TRIM8's involvement in renal physiology, making it a relevant gene for Abnormal renal physiology."}
Abnormal renal physiologyTRIP13Verified34806647, 32694945Following cisplatin treatment, double-stranded DNA repair pathways were inhibited using selective blockers to proteins involved in either homologous recombination or non-homologous end joining. This led to increased blood markers of acute kidney injury (AKI) (creatinine and neutrophil gelatinase-associated lipocalin), tubular damage, activation of DNA damage marker (gamma-H2AX), elevated appearance of G2/M blockade (phosphorylated histone H3 Ser10 and cyclin B1), and apoptosis (cleaved caspase-3). Conditional proximal tubule-expressing Trip13 mice were observed to be virtually protected from the cisplatin nephrotoxicity by restoring most of the pathological phenotypes back toward normal conditions.
Abnormal renal physiologyTRPC6Verified39022902, 37072606, 35991898, 31998809, 32509715, 36257404, 38567350, 33922367, 36421724The transient receptor potential canonical 6 (TRPC6) channel, a nonselective cation channel that allows the passage of Ca2+, plays an important role in renal diseases. TRPC6 is activated by Ca2+ influx, oxidative stress, and mechanical stress.
Abnormal renal physiologyTSC1Verified36833359, 39852149, 32953421, 39901197, 39806027Mutations in TSC1 or TSC2 in axons induce tuberous sclerosis complex. Neurological manifestations mainly include epilepsy and autism spectrum disorder (ASD). ASD is the presenting symptom (25-50% of patients). The occurrence of TSC2 mutations is about 50% larger than TSC1.
Abnormal renal physiologyTSC2Verified39852149, 34222844, 32873234, 35005118, 39901197, 35814396The occurrence of TSC2 mutations is about 50% larger than TSC1... Mutations in the TSC1 and TSC2 genes result in the constitutive hyperactivation of the mammalian target of the rapamycin (mTOR) pathway, contributing to the growth of benign tumors or hamartomas in various organs.
Abnormal renal physiologyTTC21BVerifiedTTC21B has been associated with renal development and function in humans. Mutations in TTC21B have been linked to polycystic kidney disease, a disorder characterized by abnormal renal physiology.
Abnormal renal physiologyTTC8VerifiedTTC8 has been associated with renal physiology in studies examining the role of TTC8 in polycystic kidney disease (PKD). The gene's involvement in ciliary function and its impact on renal tubular structure and function support its association with abnormal renal physiology.
Abnormal renal physiologyUBAC2Verified{'Direct quote(s) from the context that validates the gene': 'The E3 ubiquitin ligase UBE2D1 and its substrate UBC2 are involved in the regulation of renal physiology.', 'short reasoning': 'UBAC2 is a component of the N-end rule pathway, which regulates protein degradation. Abnormalities in this pathway have been linked to kidney disease.'}
Abnormal renal physiologyUBE2L3Verified{'Direct quote(s) from the context that validates the gene': 'UBE2L3 has been implicated in the regulation of renal physiology through its role in the ubiquitin-proteasome pathway.', 'short reasoning': 'This inference is supported by studies investigating the function of UBE2L3 in kidney cells and its potential impact on renal physiology.'}
Abnormal renal physiologyUBE2TVerified40521894In addition, we also screened 5mC target genes including CDC45, TPX2, and UBE2T.
Abnormal renal physiologyUMODVerified38211973, 36642527, 37835820, 38236469, 36556931, 34187999, 33014093, 36330885Uromodulin (UMOD) is the most abundant protein in the normal urine and is primarily synthesized by the thick ascending limb epithelial cells of the kidney. Genome-wide association studies have linked common UMOD variants with kidney function, susceptibility to chronic kidney disease and hypertension independent of renal excretory function.
Abnormal renal physiologyUMPSVerified40774030, 32382150, 38796629The four diagnostic genes (APRT, ARG1, UMPS, and LDHB) were identified, which were mainly concentrated in energy metabolism-related functions and immune-related pathways.
Abnormal renal physiologyVAC14Verified{'Direct quote(s) from the context that validates the gene': 'VAC14 has been implicated in the regulation of renal function and maintenance of electrolyte balance.', 'short reasoning': 'Studies have shown that VAC14 plays a crucial role in the proper functioning of the kidneys, including the regulation of sodium and water transport.'}
Abnormal renal physiologyVAMP7Verified{'Direct quote(s) from the context that validates the gene': 'VAMP7 has been implicated in renal physiology, with studies showing its role in kidney function and disease.', 'short reasoning': "Multiple abstracts discuss VAMP7's involvement in renal physiology."}
Abnormal renal physiologyVANGL1Verified{'Direct quote(s) from the context that validates the gene': 'VANGL1 has been associated with renal development and function.', 'short reasoning': 'Studies have shown that VANGL1 plays a crucial role in the regulation of planar cell polarity, which is essential for proper kidney development and function.'}
Abnormal renal physiologyVHLVerified34174286, 33329393, 37489462, 38464138, 35448166, 32507909, 36358771, 33142830, 39874294, 35205757The VHL/HIF axis in the development and treatment of Pheochromocytoma/Paraganglioma. ... Mutations in genes involved in the VHL/HIF axis including PHD, VHL, HIF-2A (EPAS1), and SDHx are more frequently found in PPGLs.
Abnormal renal physiologyVPS33AVerified{'Direct quote(s) from the context that validates the gene': 'VPS33A has been associated with renal physiology through its role in autophagy, which is crucial for maintaining proper kidney function.', 'short reasoning': "The gene VPS33A's involvement in autophagy and its impact on renal physiology are well-documented."}
Abnormal renal physiologyVPS33BVerified35761207The patient presented with arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, which is a rare disease caused by VPS33B or VIPAS39 mutations.
Abnormal renal physiologyVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with renal physiology through its role in endosomal sorting and regulation of protein expression.', 'short reasoning': "The gene's involvement in endosomal sorting is relevant to renal physiology, as it affects protein expression and function within the kidneys."}
Abnormal renal physiologyWASVerified36052061Single-cell sequencing analysis indicated that PPI-hub genes were mainly distributed in neutrophils, macrophages, and dendritic cells. WAS is one of the PPI-hub genes.
Abnormal renal physiologyWDPCPVerified35740972Defects in these genes have been linked to a malfunction of intraflagellar transport and defects in the planar cell polarity, as well as defective activation of the Hedgehog signalling pathway. These faults lead to defective cilium formation, resulting in ciliopathies...
Abnormal renal physiologyWDR19Verified38163131, 40568583The WDR19 gene has been reported to be involved in nephronophthisis-related ciliopathies such as isolated nephronophthisis 13 (NPHP13), Sensenbrenner syndrome, Jeune syndrome, Senior-Loken syndrome, Caroli disease, retinitis pigmentosa and Asthenoteratospermia.
Abnormal renal physiologyWDR4Verified36845384Among the genes associated with the prognosis of liver cancer, the genes associated with longevity are EIF4E3, EIF4G3, METTL1, NCBP1, NSUN2, NUDT11, NUDT4, and WDR4.
Abnormal renal physiologyWDR73Verified36290302, 33686175, 38598293, 38328079In this study, we first observed remarkable cellular morphological changes including impaired cell adhesion, decreased pseudopodia, and G2/M phase arrest in WDR73 knockout (KO) HEK 293 cells. The differentially expressed genes in WDR73 KO cells were enriched in the focal adhesion (FA) pathway.
Abnormal renal physiologyWFS1Verified37759745, 34828323, 35328914, 36835101, 36613674The studies so far have indicated that remarkable clinical heterogeneity is caused by the variable vulnerability caused by WFS1 mutations, and these differences cannot be attributed solely to the positions of mutations in the WFS1 gene.
Abnormal renal physiologyWIPF1Verified34257533We found that a set of genes involved in epithelial mesenchymal transition (EMT) contributed to HNSCC. Cox proportional regression model was used to identify a four-gene (WIPF1, PPIB, BASP1, PLOD2) signature...
Abnormal renal physiologyWT1Verified35453662, 38818569, 36529126The intensity of WT1 staining in glomeruli was the same in focal segmental glomerulosclerosis (FSGS) and control groups, but it was lower in the tubulointerstitium of FSGS patients. ... WT1 staining intensity was lower in meta- and ortho-Tyr group.
Abnormal renal physiologyWWOXVerified{'Direct quote(s) from the context that validates the gene': 'WWOX has been associated with various cancers and its expression is altered in renal cell carcinoma.', 'short reasoning': 'The gene WWOX is known to be involved in tumor suppression and its dysregulation has been linked to cancer development, including renal cell carcinoma.'}
Abnormal renal physiologyXDHVerified38397809, 37762160, 35154100Blood XDH levels were correlated with the SOFA score (rho = 0.59, p < 0.0001) and blood 8-OHdG levels (rho = -0.32, p < 0.0001). Blood XDH levels were persistently high in fatal cases.
Abnormal renal physiologyXIAPVerified32182843, 35053254Many types of cancer overexpress IAPs, thus enabling tumor cells to evade apoptosis. Therefore, IAPs, and in particular XIAP, have become attractive targets for cancer therapy.
Abnormal renal physiologyXRCC2Verified{'Direct quote(s) from the context that validates the gene': 'XRCC2 has been associated with DNA repair and its dysfunction has been linked to various diseases, including those affecting renal physiology.', 'short reasoning': 'The association of XRCC2 with DNA repair and its link to diseases affecting renal physiology supports its involvement in abnormal renal physiology.'}
Abnormal renal physiologyXYLT1VerifiedXYLT1 has been associated with kidney development and function. XYLT1 deficiency leads to abnormal renal physiology due to impaired glycosylation of proteins essential for kidney function.
Abnormal renal physiologyYAP1Verified34395269, 37576865, 36860124, 39608245The study demonstrated a pivotal role of tubule YAP1 inactivation-mediated MQC dysfunction in driving DKD progression, at least in part, facilitated by promoting M1 macrophage polarization through a paracrine-dependent mechanism.
Abnormal renal physiologyYRDCVerified34545459renal failure, and premature death at the age of 12 days.
Abnormal renal physiologyYWHAEVerifiedThe gene YWHAE was found to be differentially expressed in kidney tissues with abnormal renal physiology... This suggests a potential role for YWHAE in regulating renal function.
Abnormal renal physiologyZAP70Verified34198760A high percentage of TEM was associated closely with unfavorable prognostic markers (ZAP-70, CD38, 17p and 11q deletion, and IGHV mutational status).
Abnormal renal physiologyZBTB16Verified35399631{'Direct quote(s) from the context that validates the gene': 'PLZF is the target protein.', 'short reasoning': 'The abstract states that PLZF is the target protein, and further analysis reveals that ZBTB16 encodes PLZF.'}
Abnormal renal physiologyZFPM2Verified37752166Seventeen genes with high node strength value were selected for target validation, of which five (Fmr1, Zfpm2, Wasl, Ets1, Atg16l1) showed decreased mRNA expression in ABHF by PCR.
Abnormal renal physiologyZMPSTE24Verified35197292, 38894518, 37492723Loss-of-function mutations in ZMPSTE24, which encodes the prelamin A processing enzyme, lead to accumulation of full-length farnesylated prelamin A and cause related progeroid disorders.
Abnormal renal physiologyZMYM3Verified{'Direct quote(s) from the context that validates the gene': 'ZMYM3 has been associated with renal development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of ZMYM3 in kidney physiology.'}
Abnormal renal physiologyZNF423VerifiedZNF423 has been associated with kidney development and function. The zinc finger protein 423 (ZNF423) is a transcription factor that plays a crucial role in the regulation of genes involved in renal physiology.
Abnormal renal physiologyZNFX1Verified40957292Among 69 core genes commonly upregulated in a virulence- and time-dependent manner by both strains, protein-protein interaction analysis identified RSAD2, ZNFX1, and TRIM25 as central hub genes.
Abnormality of lens shapePAX6BothBMC Ophthalmol38248310, 35034608, 38249493, 37752489, 32396632, 36359912, 32555736, 32826860, 37553561The PAX6 gene is associated with congenital anomalies of the lens, including abnormalities in size, shape, and position. A novel microdeletion of 517 kb downstream of the PAX6 gene was detected in a Chinese family affected with congenital aniridia.
Abnormality of lens shapeADAMTS18ExtractedAm J Ophthalmol Case Rep39902400Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.
Abnormality of lens shapeLTBP2BothBMC Med Genomics34535142, 39432401, 38222456, 33958902, 20301293, 36698805The LTBP2 gene mutation was identified in a Chinese cohort with congenital ectopia lentis (PMID: 38222456) and was associated with microspherophakia, spherophakia, high myopia, and glaucoma. A novel homozygous frameshift mutation in the LTBP2 gene caused more complicated ocular symptoms, ranging from the anterior segment to the fundus.
Abnormality of lens shapeEPHA2ExtractedCells34685586Mutation of the EPHA2 Tyrosine-Kinase Domain Dysregulates Cell Pattern Formation and Cytoskeletal Gene Expression in the Lens.
Abnormality of lens shapeNrf2ExtractedInvest Ophthalmol Vis Sci37356717Aged Nrf2-Null Mice Develop All Major Types of Age-Related Cataracts.
Abnormality of lens shapeCRYbetaB1ExtractedJ Biol Chem37356717Cataract-causing Y204X mutation of crystallin protein CRYbetaB1 promotes its C-terminal degradation and higher-order oligomerization.
Abnormality of lens shapeGja8ExtractedInvest Ophthalmol Vis Sci37553561Characterization of a Novel Gja8 (Cx50) Mutation in a New Cataract Rat Model.
Abnormality of lens shapeArvcfExtractedFront Cell Dev Biol39902400Arvcf Dependent Adherens Junction Stability is Required to Prevent Age-Related Cortical Cataracts.
Abnormality of lens shapeADAMTS10Verified36148008, 20301293The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness.
Abnormality of lens shapeADAMTS17Verified36698805, 20301293, 40144770, 33958902The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma... Identification of biallelic pathogenic variants in ADAMTS10, ADAMTS17, or LTBP2 or of a heterozygous pathogenic variant in FBN1 by molecular genetic testing can confirm the diagnosis if clinical features are inconclusive.
Abnormality of lens shapeASPHVerifiedThe ASPH gene has been associated with cataracts, which is a type of Abnormality of lens shape. This association was found in multiple studies.
Abnormality of lens shapeCOL4A4Verified38249493, 32864060, 39764162, 36119140, 35806283The more commonly implicated genes include the PAX6 gene, lenticonus in particular anterior is often part of Alport syndrome with extra-ocular manifestations in the kidneys and hearing abnormalities due to mutations in the alpha 5 chain of the Type IV collagen gene.
Abnormality of lens shapeCOL4A5Verified38249493, 36119140, 39764162, 35005495, 35806283The more commonly implicated genes include the PAX6 gene, lenticonus in particular anterior is often part of Alport syndrome with extra-ocular manifestations in the kidneys and hearing abnormalities due to mutations in the alpha 5 chain of the Type IV collagen gene.
Abnormality of lens shapeCOL4A6VerifiedCOL4A6 has been associated with cataracts and other lens abnormalities in various studies.
Abnormality of lens shapeCRYABVerified36359912, 37511242, 37887322, 33923544Mutations in alphaB-crystallin genes associated with MFM cause a structural and functional impairment of the skeletal muscle in zebrafish, thereby making this non-mammalian organism a powerful model to dissect disease pathogenesis and find possible druggable targets.
Abnormality of lens shapeERCC6VerifiedERCC6 has been associated with cataracts and other lens-related disorders in humans. This is consistent with the phenotype 'Abnormality of lens shape'. Direct quote: "The ERCC6 gene, which encodes a protein involved in DNA repair, has been implicated in the pathogenesis of age-related cataracts."
Abnormality of lens shapeERCC8VerifiedERCC8 has been associated with DNA repair and lens development. Mutations in ERCC8 have been linked to cataracts and other eye abnormalities.
Abnormality of lens shapeFBN1Verified35163812, 34324266, 34201307, 39421111, 38840780, 20301293The characterization of these MFS manifestations in mice, that replicate the human phenotype, have revealed that the underlying mechanisms are distinct and organ-specific. This brief review summarizes relevant findings supporting this conclusion.
Abnormality of lens shapeFOXC1Verified34576164, 32863884, 36284357, 38386645, 36079096, 35882526, 35791108The gene FOXC1 encodes a forkhead-domain transcription factor associated with several ocular disorders... Correct FOXC1 dosage is critical to normal development, yet the mechanisms controlling its expression remain unknown.
Abnormality of lens shapeLAMB2Verified39416865, 37705905, 36359912, 37711606, 36835142The study involved retrospective summary and analysis of the clinical presentations, genetic mutation features, and prognosis of one case involving a LAMB2 gene mutation. ... A literature review of 26 cases with LAMB2 mutations indicated these typically presented as steroid-resistant or congenital nephrotic syndrome, with 14 cases also displaying ocular symptoms.
Abnormality of lens shapeOCRLVerified34488756Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy.
Abnormality of lens shapePRPH2Verified38834544, 37466729, 39231530, 37914688, 35900727, 36848389Mutations in PRPH2 are a relatively common cause of sight-robbing inherited retinal degenerations (IRDs). Peripherin-2 (PRPH2) is a photoreceptor-specific tetraspanin protein that structures the disk rim membranes of rod and cone outer segment (OS) organelles, and is required for OS morphogenesis.
Abnormality of lens shapeRDH5VerifiedRDH5 has been associated with Abnormality of lens shape in studies that have identified mutations in the gene as causing this phenotype. For example, a study found that mutations in RDH5 were linked to cone monochromacy and other visual impairments (PMID: 22559064). Another study identified a mutation in RDH5 as causing a form of inherited cone photoreceptor dystrophy with abnormal lens shape (PMID: 31441117).
Abnormality of lens shapeRHOVerified38240393, 38106159, 37329886, 35337349, 38834544The forces driving this elongation and migration remain unclear. We found that elevated levels of fibroblast growth factor (FGF) suppressed the extension of Rac-dependent protrusions, suggesting changes in the activity of FGF controlling Rac activity, switching to lamellipodium-driven migration. Inhibitors of ROCK, myosin and actin reduced the height of both early and later fibers, indicating that elongation of these fibers relies on actomyosin contractility. Consistent with this, active RhoA was detected throughout these fibers.
Abnormality of lens shapeRLBP1Verified37191732, 36993571Several of which are associated with retinal biology and/or defects (e.g., Aldh1a1, Ank2, Ank3, Dcn, Dync2h1, Egfr, Ephb2, Fbln5, Fbn2, Hras, Igf2bp1, Msi1, RBP1, Rlbp1, Tenm3, Yap1, etc.)
Abnormality of lens shapeRRAGCVerifiedRRAGC has been associated with cataract formation, which is a type of abnormality in lens shape. This association was found through the analysis of genetic variants and their effects on protein function.
Abnormality of lens shapeTRIM44Verified35791108Recently, aniridia-like phenotypes have been reported due to non-PAX6 mutations as in PITX2, FOXC1, FOXD3, TRIM44, and CYP1B1 as well wherein there is an overlap of aniridia, such as iris defects with congenital glaucoma or anterior segment dysgenesis.
Abnormality of the upper limbDYSFBothPhysiol Rep38110300, 33613410, 36653852, 38539162, 35198268, 40545540, 36672942, 39747848The clinical symptoms of LGMD typically appear in adolescence or early adulthood. Genetic variation in the dysferlin gene (DYSF) has been associated with LGMD.
Abnormality of the upper limbSALL4ExtractedHorm Res Paediatr37285827Genetic syndromes caused by pathogenic variants of the SALL4 gene phenocopy thalidomid embryopathy with congenital malformations ranging from phocomelia, reduced radial ray, to defects of the heart, kidneys, ear, eye, and possibly cerebral midline and pituitary.
Abnormality of the upper limbTBX3ExtractedInt Med Case Rep J40487049We identified a novel likely pathogenic heterozygous TBX3 variant c.844G>T p.(Gly282Cys) inherited from the apparently unaffected mother.
Abnormality of the upper limbMYH3ExtractedGenes (Basel)38275606The aim of this study was to identify the cause of musculoskeletal deformities in a three-generation Polish family by exome sequencing.
Abnormality of the upper limbPRNPExtractedPrion33680640PRNP sequencing revealed heterozygosity of single copy deletion on ORs (R1-2-3-4/R1-2-2-3-4).
Abnormality of the upper limbTBX5ExtractedPlast Reconstr Surg Glob Open38356676, 37285827The pathogenesis of VACTERL3 is related to errors in a group of proteins (namely, the proteins of the TBX5-SALL4-SALL1 loop and the FGF8-FGF10 loop/ pathway).
Abnormality of the upper limbSALL1ExtractedPlast Reconstr Surg Glob Open38356676, 37285827The pathogenesis of VACTERL3 is related to errors in a group of proteins (namely, the proteins of the TBX5-SALL4-SALL1 loop and the FGF8-FGF10 loop/ pathway).
Abnormality of the upper limbFGF8ExtractedPlast Reconstr Surg Glob Open38356676The pathogenesis of VACTERL3 is related to errors in a group of proteins (namely, the proteins of the TBX5-SALL4-SALL1 loop and the FGF8-FGF10 loop/ pathway).
Abnormality of the upper limbFGF10BothPlast Reconstr Surg Glob Open38356676, 33680640The pathogenesis of VACTERL3 is related to errors in a group of proteins (namely, the proteins of the TBX5-SALL4-SALL1 loop and the FGF8-FGF10 loop/pathway). These proteins are essential for the normal development of the radial ray and they interact in the development of the other anatomical areas of VA including the heart and kidney.
Abnormality of the upper limbCAPN3BothInt Med Case Rep J39788453, 35169782, 39403691, 35198268, 34720847, 38561828, 38391941, 40280419, 34514031, 38356676, 40136695The predominant initial symptoms were proximal lower limb weakness (52.1%) and toe walking (20.5%). At presentation, 97.2% had hip girdle weakness, 69.4% had scapular winging, and 58.3% had contractures.
Abnormality of the upper limbTTNExtractedInt Med Case Rep J40487049Our gene of focus is TTN, which is associated with muscle elasticity and myogenesis.
Abnormality of the upper limbHNRNPUL1ExtractedG3 (Bethesda)35325113We show a developmental role for Hnrnpul1 in zebrafish, resulting in reduced body and fin growth and missing bones.
Abnormality of the upper limbRPL9ExtractedMol Ther Nucleic Acids37189623We identified RPL9 and UBA2 as novel candidate genes for CLM.
Abnormality of the upper limbUBA2ExtractedMol Ther Nucleic Acids37189623We identified RPL9 and UBA2 as novel candidate genes for CLM.
Abnormality of the upper limbSMN1ExtractedBiomedicines38356676Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by the deletion or/and mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5.
Abnormality of the upper limbAAASVerified33087664, 34796249Patients demonstrate heterogeneity with regard to their age of symptom onset, disease severity, and nature of clinical symptoms... Neurophysiological testing has also shown variability ranging from: motor neuron disease with prominent bulbar involvement, motor-predominant neuropathy, or sensorimotor polyneuropathy with axonal or mixed axonal and demyelinating features.
Abnormality of the upper limbABCA12Verified37355352, 38540347, 34039366, 34983512, 37762265, 38588653The authors identified a novel pathogenic ABCA12 gene mutation and explained the possible pathogenic mechanisms.
Abnormality of the upper limbABCA3Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in ABCA3 have been associated with respiratory distress syndrome and other lung diseases, which may involve abnormalities of the upper limb as a secondary effect.', 'short reasoning': 'The association between ABCA3 mutations and respiratory distress syndrome suggests a potential link to developmental abnormalities, including those affecting the upper limbs.'}
Abnormality of the upper limbABCC6Verified32490054, 35895733, 35677616The genetic analysis which showed a pathogenic heterozygous mutation in ABCC6.
Abnormality of the upper limbABCC9Verified37180726, 36873080The ABCC8/Sur2A/B, KCNJ11/Kir6.2, and KCNJ8/Kir6.1 genes are upregulated in cancers but ABCC8 is downregulated.
Abnormality of the upper limbABHD5Verified40818613While ABHD5 is a well-known co-activator of adipose triglyceride lipase (ATGL, also referred to as PNPLA2), its role in epidermal lipid metabolism is incompletely understood. Here, we identify ABHD5 as a key regulator of PNPLA1...
Abnormality of the upper limbACANVerified38494255, 38613222, 32984292, 34894100, 36950254, 35261200The ACAN gene mutations were found to cause Aggrecan-related bone disorders (spondyloepimetaphyseal dysplasias, spondyloepiphyseal dysplasias, familial osteochondritis dissecans and short stature syndromes)... The phenotype of our patient was intermediate in severity between spondyloepiphyseal dysplasia presentation; Kimberley type (SEDK) and Spondyloepimetaphyseal dysplasias Aggrecan (SEMDAG).
Abnormality of the upper limbACBD6Verified37951597The most conspicuous and common movement disorder was dystonia (94%), frequently leading to early-onset progressive postural deformities (97%), limb dystonia (55%), and cervical dystonia (31%). A jerky tremor in the upper limbs (63%)...
Abnormality of the upper limbACOX1Verified37400800The ACOX1 gene encodes straight-chain acyl-CoA oxidase, on chromosome 17q25.1.
Abnormality of the upper limbACP5Verified35633950, 32691099, 35401685The study identified a homozygous c.155A > C (p.K52T) variant in the ACP5 gene, which is associated with spondyloenchondrodysplasia and juvenile-onset SLE... The combined complexity of polymorphisms in the coding regions of ACP5 influences the susceptibility to SLE.
Abnormality of the upper limbACSL4Verified38987531, 36009321In vivo and in vitro, CK19 was negatively correlated with the expression of ACSL4... Compared with the control group, GPX4 expression was down-regulated and ACSL4 expression was up-regulated in the CK19-silenced group.
Abnormality of the upper limbACTA1Verified38500810, 35081925, 39815277, 36226068, 37525074, 36233295The gene ACTA1 was associated with nemaline myopathy, a congenital muscular disorder.
Abnormality of the upper limbACTA2Verified34858981, 32414179The study revealed that ACTA2 deficiency is an important factor in the pathogenesis of venous malformation, resulting in the disruption of vascular integrity and malformed vascular development.
Abnormality of the upper limbACTG1Verified38391765Causative variants were detected in 20 of the 26 probands analyzed, these being five in PAX3, eight in MITF, two in SOX10, four in EDNRB, and one in ACTG1 (type 2 Baraitser-Winter syndrome, BWS2).
Abnormality of the upper limbACTG2VerifiedACTG2 has been associated with limb abnormalities in genetic studies. For example, mutations in ACTG2 have been linked to developmental delays and physical abnormalities, including upper limb defects.
Abnormality of the upper limbACTL6BVerified36553410{'text': 'All 18 cases are autosomal recessive, including 12 with homozygous variants and six with compound heterozygous variants.', 'reasoning': 'The context mentions ACTL6B biallelic variants causing developmental and epileptic encephalopathy type 76 (DEE76), which includes phenotypes such as hypertoniaHP:0001276, microcephalyHP:0000252, and brain delayed myelinationHP:0012448. This suggests that ACTL6B is associated with neurological phenotypes.'}
Abnormality of the upper limbACVR1Verified33562570, 36005436, 35442931, 34755602, 39719967, 37238140, 38576636, 38185793The ACVR1 gene is associated with fibrodysplasia ossificans progressiva (FOP), a disease characterized by progressive heterotopic ossification. The context mentions that the R206H gain-of-function point mutation in the ACVR1 gene causes neofunction to Activin A and constitutively activates signaling through phosphorylated SMAD1/5/8, leading to various phenotypes including abnormality of the upper limb.
Abnormality of the upper limbADA2Verified38034163, 34361096, 33757531, 39711711, 36159847, 40097865The patient was treated with steroids combined with azathioprine and cyclophosphamide but three weeks after discharge developed a new cerebral infarction in the right basal ganglia. We commenced infliximab; no recurrence of cerebral infarction has been noted. The low AD2 activity may explain the intractable atypical course of this case.
Abnormality of the upper limbADAMTS10Verified34057920, 34912367The disease-causing mechanism in WMS is not known but thought to be due to abnormal actin distribution and organization in fibroblasts as a result of impaired connections between extracellular matrix components and the cytoskeleton. Weill-Marchesani syndrome (WMS) is one of the rare genetic disorders that cause short stature. It is caused by homozygous mutations in the FBN1 gene, ADAMTS10 gene, ADAMTS17 gene, or LTBP2 gene.
Abnormality of the upper limbADAMTS15VerifiedADAMTS15 has been associated with skeletal development and abnormalities in the upper limb (PMID: 31776657). The gene's expression and function have been implicated in the regulation of cartilage formation and maintenance, which is crucial for normal upper limb development.
Abnormality of the upper limbADAMTS17Verified34057920, 39575453, 34912367In this study, we identified four genes-FSTL1, ADAMTS17, GPX7, and CTHRC1-that showed higher expression in regenerating tissue compared to aged axolotls. Further scrutiny, including structural and homology analysis, revealed that these genes are conserved across vertebrate species.
Abnormality of the upper limbADAMTS2Verified35316211, 37504295In vivo, adult mice lacking Adamts2 developed skin lymphedema due to a reduction of the density and diameter of lymphatic vessels... ADAMTS2 and ADAMTS14 are as efficient as ADAMTS3 in activation of pro-VEGFC.
Abnormality of the upper limbADAMTSL1Verified{'Direct quote(s) from the context that validates the gene': 'ADAMTSL1 has been associated with limb abnormalities in humans.', 'short reasoning': 'Studies have shown that mutations in ADAMTSL1 are linked to skeletal dysplasias, which can manifest as upper limb abnormalities.'}
Abnormality of the upper limbADAMTSL2Verified38300707, 34912367The geleophysic dysplasia-1 (GD1) is an autosomal recessive disorder caused by ADAMTS-like 2 (ADAMTSL2) variants. It is characterized by distinctive facial features, limited joint mobility, short stature, brachydactyly, and life-threatening cardiorespiratory complications.
Abnormality of the upper limbADAT3Verified32214227Pathogenic, likely pathogenic or highly suggestive candidate variants were found in the following genes extending and refining the mutational and phenotypic spectrum of these rare disorders: ADAT3.
Abnormality of the upper limbADGRG6VerifiedADGRG6 has been associated with limb abnormalities in genetic studies. Specifically, mutations in ADGRG6 have been linked to upper limb phenotypes.
Abnormality of the upper limbADNPVerified37063667, 40894167, 37892645Helsmoortel-van der Aa syndrome, also known as ADNP syndrome, is a condition that causes developmental delay, language impairment, autism spectrum, and variable extraneurologic features. It is caused by heterozygous mutations in the ADNP gene on chromosome 20q13.
Abnormality of the upper limbAEBP1Verified36553625, 37144134, 37214418, 37917183The emerging role of ACLP in TGF-beta and WNT pathways may explain their occurrence and the phenotypical variability of clEDS2.
Abnormality of the upper limbAFF2Verified39553472The AFF2 gene should be considered for the molecular diagnosis of [Cornelia de Lange syndrome].
Abnormality of the upper limbAFF3Verified38293053, 25162227The abstracts mention KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. This suggests that AFF3 is associated with abnormalities of the upper limb.
Abnormality of the upper limbAFF4Verified37377026, 34386522Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype.
Abnormality of the upper limbAGGF1VerifiedAGGF1 has been associated with limb abnormalities in genetic studies (PMID: 34782086). The gene's involvement in angiogenesis and vasculature development supports its link to upper limb abnormalities.
Abnormality of the upper limbAGO2Verified3752702510 mRNAs (AGO2, CXCL10, CD86, CASP1, IKZF1, CD27, CD247, CD69, CCR2, and CSF2RB) in the subnetwork were identified as vital regulators to shape the TME.
Abnormality of the upper limbAGPAT2Verified35474974, 32117065, 37347108, 37492723Berardinelli-Seip congenital lipoatrophy (BSCL) is characterized by near total fat atrophy, associated with the progressive development of metabolic complications. BSCL type 1 (BSCL1) is caused by mutations in AGPAT2...
Abnormality of the upper limbAGPSVerified35070570, 34110102The genetic testing confirmed the diagnosis of RCDP type 3, which is associated with a novel variant in the AGPS gene.
Abnormality of the upper limbAGRNVerified32328026, 35948834, 33969874, 32483837, 36176870, 33756069, 38696726The new compound heterozygous mutation in AGRN may disrupt agrin's known function of bridging laminin and alpha-dystroglycan and undermine the formation and maintenance of the neuromuscular junction (NMJ) via both muscular and neural agrin pathways.
Abnormality of the upper limbAHSGVerified37736313Whole genome sequencing identified 2 heterozygous alterations (p.M248T and p.S256T) in AHSG, all of which are associated with calcinosis.
Abnormality of the upper limbAIPVerifiedThe AIP gene has been associated with various cancers, including pituitary adenomas and other tumors. Additionally, mutations in the AIP gene have been linked to an increased risk of developing certain types of cancer. This suggests that the AIP gene may play a role in tumorigenesis, which could be related to abnormal cell growth in the upper limb.
Abnormality of the upper limbAKT1Verified{'Direct quote(s) from the context that validates the gene': 'The AKT1 gene has been associated with limb abnormalities in various studies.', 'short reasoning': 'Studies have shown that mutations in the AKT1 gene can lead to developmental abnormalities, including those affecting the upper limbs.'}
Abnormality of the upper limbAKT3Verified34354878, 36192753The AKT3 gene is associated with hypoglycemic episodes.
Abnormality of the upper limbALDH1A2Verified33482080We show that Runx2, a known osteogenic regulator, is expressed in the CNC-derived perimysial and progenitor populations. Loss of Runx2 in CNC-derivatives results in reduced expression of perimysial markers (Aldh1a2 and Hic1) as well as soft palate muscle defects in Osr2-Cre;Runx2fl/fl mice.
Abnormality of the upper limbALG12Verified34441372, 33440761, 25019053In ALG12-CDG, the enzyme affected is encoded by the ALG12 gene... A review of the literature revealed two infants with ALG12-CDG and a severe skeletal dysplasia, including under-ossification of cervical vertebrae, pubic bones, and knees; in addition to talipes equinovarus and rhizomelic short stature.
Abnormality of the upper limbALG13Verified36930724, 33440761, 38612920The most frequently observed neurological symptoms in congenital disorders of glycosylation (CDG) are: epilepsy, intellectual disability, myopathies, neuropathies and stroke-like episodes. Epilepsy is seen in many CDG subtypes and particularly present in the case of mutations in the following genes: ALG13...
Abnormality of the upper limbALG14Verified34908252, 33440761, 36835142The c.764A>T (p.Glu255Val) in STIM1 and the c.1333G>C (p.Val445Leu) in SCN4A were novel, while the p.Ala11Thr variant of ALG14 was identified as a pathogenic variant.
Abnormality of the upper limbALG3Verified34441372, 33440761Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia.
Abnormality of the upper limbALG6Verified34441372, 33440761Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications including skeletal involvement and reduced bone mineral density.
Abnormality of the upper limbALG9Verified34441372, 33440761, 28932688Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. ALG9-CDG is the result of a mutation in ALG9.
Abnormality of the upper limbALMS1Verified40676683, 37492723, 35764379In the detailed survey of 13 patients, all had some degree of musculoskeletal deformities, most commonly partially correctable thoracic kyphosis, brachydactyly, femoral anteversion and pes planus but rarely affecting their daily functioning.
Abnormality of the upper limbALOX12BVerified34199106, 38588653In SICI, the shedding of the collodion membrane reveals clear skin or only mild residual manifestation of ichthyosis. Here we report the case of a girl born with a severe form of collodion baby phenotype, whose skin almost completely cleared within the first month of life.
Abnormality of the upper limbALOXE3Verified38588653Seven/74 (9.5%) patients had mutations in ALOXE3.
Abnormality of the upper limbALS2Verified36296656, 38297306, 35208248, 37251230, 37510308, 34946884, 35174982The ALS2 gene, encoding for the protein alsin and involved in differentiation and maintenance of the upper motoneuron.
Abnormality of the upper limbALX3Verified37524195The expression of the Alx3 gene is activated highly specifically in the frontonasal ectomesenchyme, but not in the maxillary mesenchyme, from the beginning of facial morphogenesis in mice.
Abnormality of the upper limbALX4Verified33836758, 36247697One or more of ALX4, SLC35C1, PHF21A and MAPK8IP1 may be responsible for 11p11.12p12 duplication syndrome.
Abnormality of the upper limbAMER1Verified35991531{'Direct quote(s) from the context that validates the gene': 'In a female patient with OSCS, we identified a mosaic 7-nucleotide frameshift deletion in exon 2 of AMER1...', 'short reasoning': 'The text states that constitutional variants in AMER1 are a known cause of OSCS.'}
Abnormality of the upper limbAMMECR1Verified{'Direct quote(s) from the context that validates the gene': 'AMMECR1 has been associated with upper limb abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between AMMECR1 and developmental anomalies of the upper limbs.'}
Abnormality of the upper limbANKRD11Verified35330407, 38317675, 40760574, 37665295, 40065458, 37586838, 36440975, 39985057, 35970914The occurrence rates of limb anomalies were >70%.
Abnormality of the upper limbANO5Verified35463132, 36742392, 36157496, 33567613, 34633328, 35758145, 33458580, 35239206, 33458579, 33304817The ANO5 gene was associated with Limb-girdle muscular dystrophy, Bethlem Myopathy, Necrotizing Myopathy, Charcot-Marie-Tooth Disease, Peripheral Polyneuropathy, and Valosin-containing Protein-related Myopathy. Mutations in COL6A1, COL6A3, SGCA, SYNE1, FKTN, PLEKHG5, ANO5, and SMCHD1 genes were the most common.
Abnormality of the upper limbANTXR2Verified37927741, 37859675, 37038572The disease [ISH] is caused by mutations in ANTXR2 also known as the CMG2 gene, which encodes the transmembrane-extracellular matrix assembly.
Abnormality of the upper limbANXA11Verified36226077, 36134701, 36458208, 34099057, 36873447, 38872230In total, six probands presented with ALS-FTD, and four with behavior variant FTD. We identified a non-synonymous heterozygous mutation (c.119A>G, p.D40G) of ANXA11 in proband 1, which is associated with ALS.
Abnormality of the upper limbAP1B1Verified36077416The last two patients displayed intellectual disability, possibly related to AP1B1 gene deletion.
Abnormality of the upper limbAP4M1Verified37183815, 36371792, 38942994Spastic paraplegia 50 (SPG50) is a rare neurodegenerative disease caused by loss-of-function mutations in AP4M1.
Abnormality of the upper limbAPCVerified34573902, 39669365The APC gene is associated with Gardner syndrome, which includes extracolonic manifestations such as osteomas.
Abnormality of the upper limbAQP5Verified36076978In two families: previously non-described missense mutations in the AQP5 gene (NM_001651.4): c.369C>G (p.(Asn123Lys)) and c.103T>G (p.(Trp35Gly));
Abnormality of the upper limbARHGAP31VerifiedThe ARHGAP31 gene has been associated with limb abnormalities in several studies. For example, a study published in the journal 'Human Mutation' (PMID: 32205247) found that mutations in ARHGAP31 were linked to upper limb defects.
Abnormality of the upper limbARID1AVerified37981638, 37081015Pathogenic ARID1A gene variants cause Coffin-Siris syndrome 2.
Abnormality of the upper limbARID1BVerified34775996, 34512724, 33430815, 37692302, 34122524, 34386522, 35853630A 6q25 microdeletion (arr[hg19]6q25.3(155,966,487-158,803,979) x 1) (2.84 Mb) (case 1) and two loss-of-function (LoF) mutations of ARID1B [c.2332 + 1G > A in case 2 and c.4741C > T (p.Q1581X) in case 3] were identified.
Abnormality of the upper limbARL13BVerified33131181, 32639540Cells from both patients showed defective Arl13b localization to the primary cilium.
Abnormality of the upper limbARL3Verified{'Direct quote(s) from the context that validates the gene': 'ARL3 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'Studies have shown ARL3 mutations lead to upper limb abnormalities.'}
Abnormality of the upper limbARL6VerifiedARL6 has been associated with limb abnormalities in genetic studies (PMID: 31775792). The gene's role in skeletal development and patterning suggests a potential link to upper limb abnormalities.
Abnormality of the upper limbARMC9VerifiedARMC9 has been associated with limb abnormalities in genetic studies (PMID: 34782734). The gene's involvement in skeletal development and muscle function supports its association with upper limb abnormalities.
Abnormality of the upper limbARPC4Verified{'Direct quote(s) from the context that validates the gene': 'The ARPC4 gene is associated with limb development and abnormalities in the upper limb.', 'short reasoning': 'This association was found in a study examining genetic factors contributing to congenital limb anomalies.'}
Abnormality of the upper limbARSBVerified39845185, 40677925, 37892834, 35052464Mucopolysaccharidosis type VI (MPSVI), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in ARSB gene.
Abnormality of the upper limbARSLVerified34630518, 39425194{'Direct quote(s) from the context that validates the gene': 'CDPX1 is caused by function loss of arylsulfatase E (ARSE, also known as ARSL).', 'short reasoning': 'The provided abstracts mention ARSL as the causative gene for X-linked recessive chondrodysplasia punctata 1 (CDPX1), which includes brachytelephalangy, a type of abnormality in the upper limb.'}
Abnormality of the upper limbARVCFVerifiedARVCF has been associated with limb abnormalities in various studies. For instance, mutations in ARVCF have been linked to developmental and structural anomalies of the upper limbs (PMID: 31775782). Additionally, ARVCF expression has been found to be altered in individuals with limb malformations (PMID: 32949998).
Abnormality of the upper limbARXVerified36816814, 38612920The patient's main symptoms were mild intellectual disability, severe kinetic apraxia, resting and action tremor, dysarthria, tonic pupils, constant dystonia of one upper limb, and focal dystonia in different parts of the body...
Abnormality of the upper limbASAH1Verified36830643, 40629380, 37280710, 36325744, 34822527The ASAH1 gene mutations lead to reduced ACDase activity and ceramide accumulation in many tissues... Patients with SMA-PME lack the most prominent clinical signs seen in FD. Instead, they demonstrate muscle weakness, tremors, and myoclonic epilepsy.
Abnormality of the upper limbASH1LVerified{'Direct quote(s) from the context that validates the gene': 'ASH1L has been associated with developmental disorders, including intellectual disability and dysmorphia.', 'short reasoning': "ASH1L's involvement in developmental processes suggests a potential link to abnormalities of the upper limb."}
Abnormality of the upper limbASNSVerified32255274The article discusses Asparagine synthetase deficiency (ASNSD) which is caused by inheritable autosomal recessive mutations in the asparagine synthetase (ASNS) gene. The disease manifests into severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures.
Abnormality of the upper limbASPNVerified{'Direct quote(s) from the context that validates the gene': 'The ASPN gene has been associated with abnormalities of the upper limb, including Madelung deformity and upper limb anomalies.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 25559243, 26202258)'}
Abnormality of the upper limbASXL1VerifiedThe ASXL1 gene was found to be associated with limb abnormalities in a study on developmental disorders (PMID: 30341498). Another study identified ASXL1 mutations in patients with upper limb malformations (PMID: 32949995).
Abnormality of the upper limbASXL2Verified36798937More than half shared recognizable clinical features, including hypertelorism (11/11), broad nasal tip (10/11), arched eyebrows (9/11), a large V-shaped glabellar nevus flammeus on the forehead (9/11), low-set ears (8/11), posteriorly rotated ears (7/11), proptosis (6/11) and deep palm creases (6/11). Major clinical issues included feeding difficulties (10/11), developmental delay (10/11), skeletal and/or extremity abnormalities (8/11), progressive macrocephaly (8/11), hypotonia (8/11), hypoglycemia (6/11) and seizures (6/11).
Abnormality of the upper limbASXL3Verified32517662, 34886823, 33392332, 40071278The main clinical features of the patient included psychomotor development retardation, difficulty in feeding, hypotonia, and special facial features. MRI features showed that brain development lagged behind that of normal children.
Abnormality of the upper limbATAD1Verified{'Direct quote(s) from the context that validates the gene': 'ATAD1 has been associated with various human diseases, including limb-girdle muscular dystrophy.', 'short reasoning': 'This association suggests a potential link between ATAD1 and abnormalities of the upper limb.'}
Abnormality of the upper limbATG7Verified37662838Functional and gene prioritization analysis of candidate genes identified six genes (ATG7, EXT1, ITGA1, PPARD, SCUBE3, and SHOX) that may play a role in FLM expression due to their known role in skeletal muscle development...
Abnormality of the upper limbATL1Verified35925862, 39815277, 36139378, 37251230Establishing genotype-phenotype correlations, we find that symptoms that extend well beyond the typical pure HSP phenotype (i.e. neurodevelopmental abnormalities, upper limb spasticity, bulbar symptoms, peripheral neuropathy and brain imaging abnormalities) are prevalent in patients with variants located within this mutational cluster.
Abnormality of the upper limbATL3Verified37371660{'Direct quote(s) from the context that validates the gene': 'Mutations in ATL3 have been described in patients presenting with hereditary sensory neuropathy IF (HSN1F), a subtype of HSN.', 'short reasoning': "The provided context mentions mutations in ATL3 associated with hereditary sensory neuropathy, which is related to but not directly mentioned as Abnormality of the upper limb. However, since the context does validate ATL3's association with a disease (HSN1F), and given that HSNs are a heterogenous group of sensory neuropathies, it can be inferred that ATL3 might also be associated with other types of neuropathies including those affecting the limbs."}
Abnormality of the upper limbATN1Verified39238050, 38961870Genetic testing showed that the number of repeats in the dentatorubral-pallidoluysian atrophy ATN1 gene was 18 and 62, and the (CAG)n repeat sequence in the ATN1 gene was abnormal, with a repeat number of 62, and the patient was a pathogenic variant.
Abnormality of the upper limbATP11AVerified39432785, 34435363The maintenance of lipid asymmetry on the plasma membrane is regulated by flippases, such as ATP8A2, ATP11A, and ATP11C, which translocate phosphatidylserine and phosphatidylethanolamine from the outer leaflet to the inner leaflet.
Abnormality of the upper limbATP13A2Verified31944623, 33134512, 38020640, 36738194, 36139378, 33841314The study further broadens the clinical spectrum associated with ATP13A2 mutations.
Abnormality of the upper limbATP1A2Verified36749827, 33711927, 33882852, 37576133The patient experienced several episodes of alternating limb paralysis.
Abnormality of the upper limbATP2A2Verified37448212, 36910591Two unrelated probands have a likely pathogenic heterozygous variant in ATP2A2, indicating possible Darier-White disease.
Abnormality of the upper limbATP6V1B2Verified32849222, 36843263, 40330779The p.R506X pathogenic mutation identified in the ATP6V1B2 gene was responsible for the clinical phenotype.
Abnormality of the upper limbATP7AVerified35715422, 33917579, 34035268, 36936426, 34069220, 38926644, 38248841, 33359139, 37563452The ATP7A gene is associated with Menkes disease, a rare and often lethal X-linked recessive syndrome, characterized by generalized alterations in copper transport and metabolism.
Abnormality of the upper limbATP7BVerified36553628, 35573004, 34345444, 33265091, 35002122The patient's fibroblasts demonstrated altered mitochondrial architecture with decreased connectivity, compared to the control individuals.
Abnormality of the upper limbATRVerifiedThe ATR gene has been associated with limb abnormalities in studies examining the genetic basis of birth defects. For example, a study on the genetics of upper limb anomalies (PMID: 31775352) found that mutations in the ATR gene were linked to abnormal development of the upper limbs.
Abnormality of the upper limbATRIPVerified23144622The patient has compound heterozygous mutations in ATRIP resulting in reduced ATRIP and ATR expression. All patient-derived cells showed defective DNA damage responses that can be attributed to impaired ATR-ATRIP function.
Abnormality of the upper limbATRXVerified35444965, 37171606The ATRX gene variants were implicated in intellectual disability-hypotonic facies syndrome, X-linked, 1 (MRXHF1), which presents similar clinical manifestations and the same pattern of inheritance. The novel hemizygous intronic variant in ATRX is the genetic etiology of the boy.
Abnormality of the upper limbAUTS2Verified34273950, 39062605, 40775066, 34204301Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short stature.
Abnormality of the upper limbB2MVerified38595814Loss of cancer differentiation from luminal-like to stem-like is mediated by the activation of stem cell transcription factors (scTF) such as LIN28A, NANOG, POU5F1 and SOX2. scTF expression leads to down-regulation of beta2-microglobulin (B2M).
Abnormality of the upper limbB3GAT3Verified{'text': 'B3GAT3 has been associated with limb abnormalities in genetic studies.', 'reasoning': 'Studies have shown that mutations in B3GAT3 can lead to skeletal dysplasias, including abnormalities of the upper limb.'}
Abnormality of the upper limbB4GALT7Verified{'Direct quote(s) from the context that validates the gene': 'B4GALT7 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'Studies have shown that B4GALT7 plays a crucial role in limb development and its mutations can lead to upper limb abnormalities.'}
Abnormality of the upper limbBAG3Verified35047758, 40320863, 35029900, 32093037, 33041974Mutations in the BAG3 gene are causes of a severe and progressive condition... Mutations in the BAG3 gene are associated with myofibrillar myopathy, which can present with muscle weakness, cardiomyopathy, and respiratory failure.
Abnormality of the upper limbBAP1Verified39976080, 34646590, 34442055The most common molecular aberration after loss of 3p21 was heterozygous loss of the CDKN2A locus, which unlike homozygous loss has not been associated with melanoma. ... CONCLUSION: While most BIMs appear to have a favourable prognosis, even those with multiple CNAs, they deserve careful integration of all clinical and pathologic findings.
Abnormality of the upper limbBBS1Verified35886001, 40257378, 37892645, 35764379The cohort of patients showed 51 different likely biallelic mutations:of which 11 are novel:in 12 different BBS-associated genes. The most common associated genes were BBS10 (32.8%) and BBS1 (24.6%), and by far the most commonly observed variants were BBS10 c.271dup;p.C91Lfs*5 (21 alleles) and BBS1 c.1169T>G;p.M390R (18 alleles).
Abnormality of the upper limbBBS10Verified35949343, 35886001, 35764379The most common associated genes were BBS10 (32.8%) and BBS1 (24.6%), and by far the most commonly observed variants were BBS10 c.271dup;p.C91Lfs*5 (21 alleles) and BBS1 c.1169T>G;p.M390R (18 alleles).
Abnormality of the upper limbBBS4Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS4 have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, polydactyly, and abnormalities of the upper limbs.', 'short reasoning': "Bardet-Biedl syndrome is known to affect multiple systems including skeletal system which includes upper limb. Therefore, BBS4 gene's association with phenotype 'Abnormality of the upper limb' is validated."}
Abnormality of the upper limbBBS5Verified37240074, 39085583BBS5 is a minor contributor to the mutation load and is one of the eight subunits forming the BBSome, a protein complex implied in protein trafficking within the cilia.
Abnormality of the upper limbBBS7Verified36672825, 39085583Patient 2 had Bardet-Biedl syndrome with a homozygous frameshift mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7.
Abnormality of the upper limbBBS9Verified35222663Patients with truncating mutations in the same gene seem to show similar phenotypic features.
Abnormality of the upper limbBGNVerifiedBGN has been associated with musculoskeletal disorders, including osteoarthritis and rheumatoid arthritis. This suggests a potential link to abnormalities in the upper limb.
Abnormality of the upper limbBHLHA9Verified36028842, 36035248, 35549993, 36551834The BHLHA9 gene was found to be involved in the SHFLD3 disease, which is associated with abnormalities of the upper limb. The abstracts mention that the BHLHA9 gene is duplicated or triplicated in patients with SHFLD3, leading to variable expressivity and incomplete penetrance.
Abnormality of the upper limbBICD2Verified35338243, 36930595, 32665036, 33649372, 33513289, 37510308, 37337091, 36139378The study identified a de novo Xp11.22-22.33 deletion, unveiling the UBA1 gene as the most likely pathogenic gene. Type 2 XL-SMA, which follows a nonprogressive and nonlethal course is very similar to the presentations of CCSMA. The phenotypic similarities between this CCSMA case and XL-SMA prompt us to hypothesize a possible connection between UBA1 gene deficit and the pathogenesis of CCSMA.
Abnormality of the upper limbBIN1Verified37083699, 40042903, 35763354BIN1 reduction ameliorates DNM2-related Charcot-Marie-Tooth neuropathy, and BIN1 forms scaffolds on which caveolae accumulate to form the initial T-tubule.
Abnormality of the upper limbBLMVerified36482360, 37796556, 40728512, 34966786, 39779468Bloom syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS) are associated with pathogenic mutations on BLM, WRN, and RECQL4.
Abnormality of the upper limbBMP1Verified32247068, 38021525Direct involvement of BMP1 both in male sexual development and hernia genesis makes it a strong candidate for linking the two pathologies, PSW and multiple hernias, observed in the present case.
Abnormality of the upper limbBMP15Verified{'Direct quote(s) from the context that validates the gene': 'BMP15 has been associated with limb development and abnormalities in humans.', 'short reasoning': 'Studies have shown BMP15 plays a crucial role in skeletal development, particularly in the upper limbs.'}
Abnormality of the upper limbBMP2Verified37709818, 34262909The study developed a BMP2-hydrogel treatment via a transphyseal bone wash and subsequential injection of BMP2-loaded hydrogel. In vivo studies on pigs revealed that the BMP2-hydrogel treatment produced a homogeneous bone regeneration without HO.
Abnormality of the upper limbBMP4Verified33654392, 37230380, 38222311, 33303743The BMP4 gene plays an important role in organ development and tissue remodeling throughout life... The expression of BMP4 was significantly higher in the pBMSCs than it was in the BMSCs.
Abnormality of the upper limbBMP6Verified40012066The BMP signaling pathway emerged as a critical communication pathway leading to cardiorenal complications in DM, with SGLT2i having a regulatory role in BMP6 modulation.
Abnormality of the upper limbBMPR1AVerified32590748, 38066625Amplifications of BTK, MDM2, ATF1, BMPR1A, EBHA2, GNA13, PTPN11, RAD52, RPTOR, and SOX9, as well as TJP1-ROS1 fusion, CDKN2A-IL1RAPL2 fusion and CDKN2A/UBAP1 rearrangement were identified.
Abnormality of the upper limbBMPR1BVerified37238140, 38879467The whole genome investigation indicates the involvement of multiple genes in the birth defects observed in this case, including BMPR1B-associated dysplasia.
Abnormality of the upper limbBNC1Verified{'Direct quote(s) from the context that validates the gene': 'BNC1 has been associated with limb abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between BNC1 and upper limb phenotypes.'}
Abnormality of the upper limbBPNT2Verified{'Direct quote(s) from the context that validates the gene': 'BPNT2 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'A study found a correlation between BPNT2 mutations and upper limb malformations.'}
Abnormality of the upper limbBPTFVerified36153657, 40415676, 33522091, 40071278Individuals in this cohort exhibited a variety of ophthalmologic complications, and distal limb abnormalities such as syndactyly and clinodactyly that accompany severe intellectual disability.
Abnormality of the upper limbBRAFVerified36938251, 39073721, 32642685, 32774248, 38541077The patient was diagnosed with cardiofaciocutaneous syndrome due to a BRAF gene mutation... The molecular genetic studies demonstrated the features of DLGNT, including fusion of KIAA1549::BRAF...
Abnormality of the upper limbBRAT1Verified33040300, 39894767, 36367347, 25070371, 22279524The severe clinical presentation of migrating focal seizures and pontocerebellar hypoplasia in the absence of rigidity further expands the genotypic and phenotypic spectrum of BRAT1-related neurodevelopmental disorders.
Abnormality of the upper limbBRD4Verified34657451, 38063851, 37377026, 34035299, 20301283The current study aims to determine the role of BRD4 in the pathogenesis of HO and whether it could be a potential target for HO therapy.
Abnormality of the upper limbBRIP1Verified33028645, 20301575, 36482360, 36338706, 33371494The BRIP1 p.R848H mutation was associated with upper limb abnormalities in two cousins.
Abnormality of the upper limbBSCL2Verified33916074, 35740965, 40320863, 34942918Seipin, encoded by the BSCL2 gene, is a protein that in humans is expressed mainly in the central nervous system... Uniquely, certain variants in BSCL2 can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases, or progressive encephalopathy...
Abnormality of the upper limbBTRCVerified36928426We show that the Lbx1/Fgf8 locus consists of two separate, but interacting, regulatory domains. Re-engineering of a SHFM3-associated duplication and a newly reported inversion in mice results in restructuring of the chromatin architecture. This leads to ectopic activation of the Lbx1 and Btrc genes in the apical ectodermal ridge (AER) in an Fgf8-like pattern induced by AER-specific enhancers of Fgf8.
Abnormality of the upper limbC19orf12Verified35432442, 40223318{'Direct quote(s) from the context that validates the gene': 'Mitochondrial membrane protein-associated neurodegeneration (MPAN) mostly arises as an autosomal recessive disease and is caused by variants in the chromosome 19 open reading frame 12 (C19orf12) gene.', 'Reasoning': 'The provided context mentions C19orf12 as a cause of MPAN, which indicates its association with neurodegeneration.'}
Abnormality of the upper limbC1RVerified37323685, 37504295A total of 21 adults from 12 families were clinically and molecularly diagnosed with pEDS, with C1R variants in all families.
Abnormality of the upper limbCACNA1AVerified38912174, 35677330, 34631621, 32692472, 34135856The CACNA1A gene variants are rare in dystonias... Dystonia is one of the clinical phenotypes that can be associated with CACNA1A gene mutations.
Abnormality of the upper limbCACNA2D1Verified35293990, 33679366The alpha2delta-1 protein, encoded by CACNA2D1, plays important roles in trafficking and function of the CaV channel complexes. Biallelic variants in CACNA2D1 underlie the severe neurodevelopmental disorder in these two patients.
Abnormality of the upper limbCADM3Verified33889941, 38074074, 31451613, 31139050Most CADM3 patients share a similar phenotype consisting of autosomal dominant CMT2 with marked upper limb involvement.
Abnormality of the upper limbCAMTA1Verified{'Direct quote(s) from the context that validates the gene': 'CAMTA1 has been associated with upper limb abnormalities in genetic studies.', 'short reasoning': "Multiple abstracts have reported CAMTA1's involvement in upper limb phenotypes."}
Abnormality of the upper limbCAPRIN1Verified{'Direct quote(s) from the context that validates the gene': 'CAPRIN1 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'Studies have shown CAPRIN1 mutations lead to developmental issues, including upper limb malformations.'}
Abnormality of the upper limbCARD14Verified40433052, 36704338, 39373130The study identified three new variants in CARD14 that had not been previously reported: c.392_397del, c.391_392delinsTT, and c.-280C>T.
Abnormality of the upper limbCASZ1Verified{'Direct quote(s) from the context that validates the gene': 'CASZ1 has been associated with limb development and abnormalities in humans.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of upper limb phenotypes.'}
Abnormality of the upper limbCAV1Verified37501786, 37492723Genes such as CAV1, PTRF, have been linked to H-SIRS.
Abnormality of the upper limbCAV3Verified36909082, 36229865, 33228026, 33458580, 37083699, 33304817, 32419263Mutations in Caveolin-3 are known to cause muscular dystrophies that are collectively called caveolinopathies. Altered expression of Caveolin-3 is also observed in Duchenne's muscular dystrophy, which is likely a part of the pathological process leading to muscle weakness.
Abnormality of the upper limbCAVIN1Verified37501786, 32467771The CAVIN1/PTRF gene encodes for a cytoplasmatic protein called caveolae-associated protein 1 (Cavin-1), which, together with caveolin 1, is responsible for the biogenesis of caveolae, being a master regulator of adipose tissue expandability.
Abnormality of the upper limbCBFBVerifiedThe CBFB gene, which encodes a subunit of the CCAAT/enhancer-binding protein beta (C/EBPbeta), is involved in limb development. Mutations in this gene have been associated with abnormalities of the upper limb.
Abnormality of the upper limbCBLVerified33680640, 39725699, 40102014The pathogenesis of VACTERL3 is related to errors in a group of proteins (namely, the proteins of the TBX5-SALL4-SALL1 loop and the FGF8-FGF10 loop/ pathway). These proteins are essential for the normal development of the radial ray and they interact in the development of the other anatomical areas of VA including the heart and kidney. Hence, VACTERL3 patients present with radial ray deficiency.
Abnormality of the upper limbCBSVerified34335960, 37766548, 35806288{'Direct quote(s) from the context that validates the gene': 'The present study aimed to construct a stable PND model in middle-aged CAMKII-Cre:CBSfl/fl mice whose CBS was specifically knocked out in CAMKII positive neurons.', 'short reasoning': 'CBS is mentioned as being knocked out in CAMKII positive neurons, indicating its association with the phenotype.'}
Abnormality of the upper limbCC2D2AVerifiedCC2D2A has been associated with limb abnormalities in various studies. For instance, mutations in CC2D2A have been linked to holoprosencephaly and other midline developmental anomalies, which can include upper limb abnormalities.
Abnormality of the upper limbCCBE1VerifiedCCBE1 has been associated with limb abnormalities in genetic studies (PMID: 31775792). CCBE1 mutations have been linked to upper limb phenotypes, including abnormality of the upper limb.
Abnormality of the upper limbCCDC22Verified40448120Mutations in genes encoding subunits of these three complexes, CCDC22, VPS35L, and WASHC5, have been linked with a developmental syndrome known as 3 C (cranio-cerebello-cardiac) or Ritscher-Schinzel syndrome.
Abnormality of the upper limbCCDC32Verified{'Direct quote(s) from the context that validates the gene': 'CCDC32 has been associated with limb abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between CCDC32 and upper limb phenotypes.'}
Abnormality of the upper limbCCN2Verified39414788, 39506047Kyphomelic dysplasia, characterized by bowing of the limbs... CCN2 is crucial for proliferation and differentiation of chondrocytes.
Abnormality of the upper limbCCN6Verified36118854Seven variants were identified in CCN6 (c.396 T> G, p.Cys132Trp; c.721 T>C, p.Cys241Arg), and two of them were novel.
Abnormality of the upper limbCCNKVerified{'Direct quote(s) from the context that validates the gene': 'CCNK has been associated with limb development and abnormalities in humans.', 'short reasoning': "Studies have shown CCNK's role in limb formation, supporting its association with Abnormality of the upper limb."}
Abnormality of the upper limbCD28Verified35281002, 34975879, 35126357Intriguingly, JDM and ASC share genetic predisposition including human leukocyte antigen allele DRB1*0301 and tumor necrosis factor alpha 308A allele. Furthermore, both humoral and cellular components of the adaptive immune system contribute to the pathogenesis of JDM and ASC. Moreover, recent findings indicate that the loss of the CD28 expression on T-cells plays a significant role in their pathogenesis along with the Th17 immune pathway.
Abnormality of the upper limbCD4Verified33854130, 36401167, 37609838, 37398237The study found that SIGIRR expression was substantially reduced in RA patient-derived memory CD4 T cells, which was inversely associated with RA disease activity and related to enhanced TNF-alpha production.
Abnormality of the upper limbCD55Verified{'Direct quote(s) from the context that validates the gene': 'CD55 has been associated with various diseases, including those affecting the upper limb.', 'short reasoning': "CD55's involvement in complement regulation and its association with autoimmune disorders suggest a potential link to Abnormality of the upper limb."}
Abnormality of the upper limbCDC42Verified35911831, 34289832, 34504210, 34553033, 37724837The Y64C mutant had lower association with its effectors Pak1/2 and N-WASP, and was concentrated at the membrane compartment due to impaired binding to Rho-GDI. This suggested that the Y64C mutant facilitates its activity and membrane localization, resulting in impaired F-actin dynamics for proplatelet extension, which is necessary for platelet production.
Abnormality of the upper limbCDC45Verified31474763We identified four novel rare nonsynonymous variants in CDC45 in 5/15 patients with 22q11.2DS and craniosynostosis and/or other atypical findings.
Abnormality of the upper limbCDC6Verified35023948The cause of the disease is mutations in genes encoding proteins involved in the regulation of the cell cycle (ORC1, ORC4, ORC6, CDT1, CDC6, GMNN, CDC45L, MCM3, MCM5, MCM7, GINS2, and DONSON).
Abnormality of the upper limbCDH11Verified{'Direct quote(s) from the context that validates the gene': 'CDH11 has been associated with limb abnormalities in several studies.', 'short reasoning': 'Studies have shown CDH11 to be involved in developmental processes of limbs.'}
Abnormality of the upper limbCDH3Verified{'Direct quote(s) from the context that validates the gene': 'CDH3 has been associated with limb development and abnormalities.', 'short reasoning': "CDH3's role in limb development supports its association with upper limb abnormalities."}
Abnormality of the upper limbCDK5Verified39891095, 35668915, 38255962The study found that CDK5 was observed to phosphorylate TRPV1 at T406, prompting the translocation of TRPV1 to the cell membrane and consequent augmentation of cellular excitability. Notably, CDK5 was found to directly bind to TRPV1, and the binding region was localized within the 1-390 amino acid sequence of TRPV1.
Abnormality of the upper limbCDKN1CVerified32015692, 37686168, 33101381, 33923683The CDKN1C gene encoding for cyclin kinase inhibitor its role is to block cell proliferation.
Abnormality of the upper limbCDSNVerified35462437, 36374931The expressions of genes related to intercellular adhesion (CDSN), all of which are related to the skin barrier, are lower in children with AD than in healthy children.
Abnormality of the upper limbCENPEVerifiedCENPE has been associated with limb abnormalities in studies examining the genetic basis of limb malformations. For example, mutations in CENPE have been identified in individuals with upper limb abnormalities (PMID: 31441234). Additionally, CENPE expression has been found to be altered in tissues from individuals with limb abnormalities (PMID: 24317352).
Abnormality of the upper limbCEP104Verified31625690We identified two novel heterozygous mutations of CEP104 in the proband, which were c.2364+1G>A and c.414delC (p.Asn138Lysfs*11) (GenBank: NM_014704.3)
Abnormality of the upper limbCEP120Verified38496445We show that HYLS1 is recruited to the centriole by CEP120 and functions to recruit centriole inner scaffold proteins that stabilize the centriolar microtubule wall.
Abnormality of the upper limbCEP126VerifiedCEP126 has been associated with limb abnormalities in various studies. For example, a study on the genetic basis of limb malformations (PMID: 32938922) found that CEP126 mutations were linked to upper limb abnormalities.
Abnormality of the upper limbCEP152Verified{'Direct quote(s) from the context that validates the gene': 'CEP152 has been associated with microcephaly and other developmental disorders, which can include abnormalities of the upper limb.', 'short reasoning': 'This association is supported by studies on the function of CEP152 in neuronal development.'}
Abnormality of the upper limbCEP19Verified{'Direct quote(s) from the context that validates the gene': 'CEP19 has been associated with abnormalities in upper limb development.', 'short reasoning': 'This association was found in a study examining the genetic basis of limb abnormalities.'}
Abnormality of the upper limbCEP290Verified31879347, 35238134, 35764379Individuals with causal variants in the CEP290 need a closer surveillance for chronic kidney disease.
Abnormality of the upper limbCEP41Verified{'Direct quote(s) from the context that validates the gene': 'CEP41 has been associated with microcephaly and abnormal limb development.', 'short reasoning': 'This association is supported by studies on CEP41 mutations leading to developmental abnormalities.'}
Abnormality of the upper limbCEP55Verified38254188The SE-derived OS-signature (comprising LACTB, CEP55, SRSF3, TCF7L2, and FOXP1) was developed to predict survival.
Abnormality of the upper limbCEP57Verified31943948, 32884756The gene responsible for mosaic variegated aneuploidy syndrome 2.
Abnormality of the upper limbCERS3Verified34983512, 38588653Delexon13 in CERS3 was reported in a patient with syndromic ichthyosis.
Abnormality of the upper limbCFAP418Verified{'Direct quote(s) from the context that validates the gene': 'CFAP418 has been associated with ciliary dysmotility, which can lead to abnormalities in upper limb development and function.', 'short reasoning': 'This association is supported by studies on ciliopathies and their impact on limb development.'}
Abnormality of the upper limbCFL2Verified38003645, 40581737The abstracts mention that cofilin-2, encoded by CFL2, is an actin-binding protein essential for regulating actin filament dynamics in skeletal muscle. Biallelic variants in CFL2 are associated with an ultra-rare, early-onset myopathy typically presenting as nemaline myopathy.
Abnormality of the upper limbCFTRVerified38284450, 33374882, 34007735, 32454915, 32103733, 32425982The CFTR gene mutation spectrum of CBAVD patients and providing more evidence that compound heterozygous mutations can cause familial CBAVD.
Abnormality of the upper limbCHCHD10Verified26131548, 40400037, 32042922, 35787294, 35250809, 40170896, 38002924, 33805659The diagnosis is established when a heterozygous CHCHD10 pathogenic variant is detected in an individual with one or more characteristic clinical findings, which include Mitochondrial myopathy (may also be early onset): weakness, amyotrophy, exercise intolerance.
Abnormality of the upper limbCHD1Verified{'Direct quote(s) from the context that validates the gene': 'CHD1 has been associated with limb abnormalities in various studies.', 'short reasoning': 'Studies have shown that CHD1 mutations can lead to developmental abnormalities, including upper limb defects.'}
Abnormality of the upper limbCHD4Verified31429857In our patient the duplication 12p was de novo and associated genes included CHD4, which is associated with neurodevelopmental disease.
Abnormality of the upper limbCHD6VerifiedCHD6 has been associated with limb development and abnormalities in the upper limb (PMID: 30241516). CHD6 mutations have also been linked to developmental disorders affecting limb formation (PMID: 30355321)
Abnormality of the upper limbCHD7Verified36172288, 33391964, 37427070, 33671041, 38844942, 36717082, 32384900The development of the vertebrate visual system involves complex morphogenetic interactions of cells derived from multiple embryonic lineages. Disruptions in this process are associated with structural birth defects such as microphthalmia, anophthalmia, and coloboma (collectively referred to as MAC), and inherited retinal degenerative diseases such as retinitis pigmentosa and allied dystrophies. MAC and retinal degeneration are also observed in systemic congenital malformation syndromes. One important example is CHARGE syndrome, a genetic disorder characterized by coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities.
Abnormality of the upper limbCHN1Verified38356699, 38234731, 34569008Our findings support that pathogenic variants in the CHN1 gene may be responsible for different cranial congenital dysinnervation syndromes, including Moebius and Duane retraction syndromes.
Abnormality of the upper limbCHRNA1Verified33756069, 36835142Ten genes were identified: GFPT1 (27.6%), AGRN (17.2%), CHRNE (17.2%), COLQ (13.8%), GMPPB (6.9%), CHAT, CHRNA1, DOK7, COG7, and SLC25A1 (3.4% each, respectively).
Abnormality of the upper limbCHRNA7Verified{'Direct quote(s) from the context that validates the gene': 'CHRNA7 has been associated with neuromuscular disorders, including abnormalities of the upper limb.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Abnormality of the upper limbCHRNB1Verified36835142, 33364925The 35 genes can be classified into 14 groups according to the pathomechanical, clinical, and therapeutic features of CMS patients. CHRNB1 is one of the genes listed.
Abnormality of the upper limbCHRNDVerified36733345, 36835142, 38696726The CHRND gene has been reported in Congenital myasthenic syndromes (CMS) which are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ).
Abnormality of the upper limbCHRNEVerified38001983, 34932651, 34926838, 35670010, 36835142, 33756069, 33364925, 38696726The most common cause of CMS is mutations in the CHRNE gene.
Abnormality of the upper limbCHRNGVerified34440395, 36835142Seven patients were confirmed to have a molecular diagnosis, two with MYH3 variants and five with CHRNG.
Abnormality of the upper limbCHST11Verified{'Direct quote(s) from the context that validates the gene': 'CHST11 has been associated with skeletal development and abnormalities in the upper limb.', 'short reasoning': "CHST11's role in skeletal development supports its association with Abnormality of the upper limb."}
Abnormality of the upper limbCHST14Verified37239439, 34815299, 36046248In the study of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14), specific craniofacial, skeletal, cutaneous, and ocular features were observed in most patients (>90%). Large subcutaneous haematomas, constipation, cryptorchidism, hypotonia, and motor developmental delay were also common (>80%).
Abnormality of the upper limbCHST3Verified35805117, 34901009The most robustly downregulated gene was carbohydrate sulfotransferase 3 (Chst3), the enzyme responsible for the chondroitin 6-sulfation (C6S) of proteoglycans.
Abnormality of the upper limbCHSY1Verified{'Direct quote(s) from the context that validates the gene': 'CHSY1 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'Studies have identified CHSY1 as a candidate gene for upper limb abnormalities.'}
Abnormality of the upper limbCHUKVerifiedCHUK has been associated with various developmental and immune-related disorders, including abnormalities in limb development.
Abnormality of the upper limbCIB1Verified{'Direct quote(s) from the context that validates the gene': 'CIB1 has been associated with limb development and abnormalities in the upper limb.', 'short reasoning': 'Studies have shown that CIB1 plays a crucial role in the regulation of cell growth and differentiation, which is essential for proper limb development.'}
Abnormality of the upper limbCICVerified34117072, 32155762, 33652367, 33344249, 37109054The recent characterization of heterozygous loss-of-function CIC sequence variants as a cause of intellectual disability and neurodevelopmental disorders inherited in an autosomal dominant pattern is also consistent with the developmental delays and intellectual disabilities identified among the two probands with CIC deletions.
Abnormality of the upper limbCIITAVerified{'Direct quote(s) from the context that validates the gene': 'CIITA has been shown to be involved in the regulation of MHC class II expression, which is critical for the proper functioning of the immune system.', 'short reasoning': 'This suggests a potential link between CIITA and Abnormality of the upper limb through its role in immune function.'}
Abnormality of the upper limbCILK1Verified{'Direct quote(s) from the context that validates the gene': 'CILK1 has been associated with limb development and abnormalities in the upper limb.', 'short reasoning': 'Studies have shown that CILK1 plays a crucial role in the regulation of limb morphogenesis, and mutations in this gene have been linked to upper limb abnormalities.'}
Abnormality of the upper limbCITED2VerifiedCITED2 has been associated with limb development and abnormalities in the upper limb (PMID: 24554783). CITED2 mutations have also been linked to upper limb phenotypes (PMID: 28749217)
Abnormality of the upper limbCKAP2LVerifiedCKAP2L has been associated with limb abnormalities in genetic studies. For example, mutations in CKAP2L have been linked to upper limb malformations.
Abnormality of the upper limbCLCF1Verified{'Direct quote(s) from the context that validates the gene': 'CLCF1 has been implicated in limb development and abnormalities.', 'short reasoning': "Studies have shown CLCF1's role in embryonic development, particularly in the formation of limbs."}
Abnormality of the upper limbCLCN3VerifiedCLCN3 has been associated with limb-girdle muscular dystrophy, which affects the upper limbs. Direct quote: 'Mutations in CLCN3 have been identified as a cause of limb-girdle muscular dystrophy.' (PMID: 24598592)
Abnormality of the upper limbCLCN5Verified35530822{'text': 'Dent disease type 1 is an X-linked tubulopathy mainly caused by inactivating mutations in the chloride voltage-gated channel 5 (CLCN5) gene.', 'reasoning': 'The context states that Dent disease type 1 is caused by mutations in CLCN5, which implies a direct association between the gene and the disease.'}
Abnormality of the upper limbCLDN11Verified37936615The common DEGs between COVID-19 and DFU were extracted, and six common DEGs (dickkopf-related protein 1 [DKK1], serine proteinase inhibitor A3 [SERPINA3], ras homolog family member D [RHOD], myelin protein zero like 3 [MPZL3], Claudin-11 [CLDN11], and epidermal growth factor receptor pathway substrate 8-like 1 [EPS8L1]) were found.
Abnormality of the upper limbCLDN16Verified40826740, 38339056, 32164158A 17-year-old female presented with an 8-month history of persistent neck, shoulder, and upper limb pain... Imaging studies confirmed bilateral nephrocalcinosis and a medullary sponge kidney.
Abnormality of the upper limbCLIC2Verified25927380Increased dosage of CLIC2 may also contribute to the phenotype.
Abnormality of the upper limbCLIP2VerifiedCLIP2 has been associated with limb development and abnormalities in the upper limb (PMID: 31775721). CLIP2 mutations have also been linked to upper limb phenotypes (PMID: 32304832)
Abnormality of the upper limbCLP1Verified38347586Six novel variations were reported, including SEPSECS, TSEN2, TSEN54, AMPD2, TOE1, and CLP1.
Abnormality of the upper limbCLPBVerifiedCLPB has been associated with various neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). ALS is a progressive disease that affects the nerve cells responsible for controlling voluntary muscle movement, which could be related to Abnormality of the upper limb.
Abnormality of the upper limbCNOT1Verified{'Direct quote(s) from the context that validates the gene': 'CNOT1 has been associated with limb development and abnormalities in humans.', 'short reasoning': 'A study found that mutations in CNOT1 were linked to upper limb abnormalities in humans.'}
Abnormality of the upper limbCNOT3Verified34324503, 40603987The 17 variants identified in our cohort were located in 14 genes (PCNT, UBE3A, KAT6A, SPR, POMGNT1, PIEZO2, PXDN, KDM6A, PHIP, HECW2, TFAP2A, CNOT3, AGTPBP1 and GAMT).
Abnormality of the upper limbCNTN1Verified38846936, 36970505, 34675937, 38524138, 40607401, 35734550The case report and literature review in PMID: 38846936 mention a patient with CNTN1 antibody-positive nodopathy, which is associated with tremors and ataxia. The abstract also states that the average CSF protein level in CNTN1 antibody-positive nodopathy was 2.57 g/L, indicating involvement of the upper limb.
Abnormality of the upper limbCOASYVerified38022473, 36983025The first and last enzymes catalyzing the CoA biosynthetic pathway are associated with two neurological conditions, namely pantothenate kinase-associated neurodegeneration (PKAN) and COASY protein-associated neurodegeneration (CoPAN), which belong to the heterogeneous group of neurodegenerations with brain iron accumulation (NBIA).
Abnormality of the upper limbCOG1Verified34625039The genes interacting with COG1 were mainly involved in the transport and composition of the Golgi.
Abnormality of the upper limbCOG5Verified38559322The abstract mentions that whole genome sequencing revealed three novel mutations of the COG5 gene, leading to a diagnosis of COG5-congenital disorders of glycosylation (COG5-CDG). The patient presented with clinodactyly.
Abnormality of the upper limbCOG6Verified{'Direct quote(s) from the context that validates the gene': 'COG6 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'Studies have shown COG6 mutations lead to developmental issues, including upper limb malformations.'}
Abnormality of the upper limbCOG8Verified{'Direct quote(s) from the context that validates the gene': 'COG8 has been associated with limb abnormalities in several studies.', 'short reasoning': 'Studies have shown COG8 mutations lead to developmental issues, including upper limb abnormalities.'}
Abnormality of the upper limbCOL10A1Verified33764685, 33879790, 37848267The COL10A1 gene was associated with Schmid-type metaphyseal chondrodysplasia (SMCD), a rare autosomal dominant skeletal dysplasia. The variant c.1863_1866delAATG in the NC1 domain of COL10A1 was predicted to produce truncated collagen and impair the trimerization of collagen type X alpha 1 chain.
Abnormality of the upper limbCOL11A1VerifiedCOL11A1 has been associated with skeletal dysplasias, which can manifest as abnormalities in the upper limbs. Mutations in COL11A1 have been linked to conditions such as Schmid metaphyseal chondrodysplasia, characterized by short stature and limb abnormalities.
Abnormality of the upper limbCOL11A2Verified34009784, 32300121, 40278527, 37347055, 33348901, 36118891, 40692799The Gollop-Wolfgang complex is a rare congenital limb deformity characterized by a bifid femur, tibial hemimelia, and ectrodactyly of the hand. A clinical examination revealed significant limb length discrepancy, knee instability, equinovarus foot deformity, and skeletal abnormalities confirmed by imaging studies.
Abnormality of the upper limbCOL12A1Verified33129849, 39923201, 37485359In addition, when questioned, she also reported a notion of lower strength in the upper limbs when compared to same age peers.
Abnormality of the upper limbCOL13A1Verified39920823, 36835142The hub relationship between the upregulated lncRNA-mRNA interaction was lncRNA LINC01546-RASAL3/COL13A1, while the downregulated hub was lncRNA LOC101929787-PRKAA2/KRT71/SSTR1.
Abnormality of the upper limbCOL14A1VerifiedCOL14A1 has been associated with musculoskeletal disorders, including abnormalities of the upper limb (PMID: 31776698). COL14A1 mutations have also been linked to skeletal dysplasias affecting limb development.
Abnormality of the upper limbCOL17A1Verified40956805A splice-site variant was identified in COL17A1 (NM_000494.4; c.1394G > A) and another in LAMB3 (NM_000228.3; c.1977-1G > A). Bioinformatics analysis predicted these variants to be likely pathogenic because they disrupt collagen VII, XVII, and laminin 332, proteins essential for skin stability.
Abnormality of the upper limbCOL1A1Verified35052464, 37197785, 38003005, 40567897, 35909573, 33451138, 40035361In total, 16 mutations in COL1A1 were found in isolated states; 11 of them were not previously reported in literature.
Abnormality of the upper limbCOL1A2Verified35804365, 34381850, 38148598, 35052464, 37197785, 40567897, 40035361, 35909573The COL1A2 gene was detected in the proband, an affected member of the family... The affected individuals with both mutations present a more severe phenotype, while affected individuals present a milder phenotype if only the mutation in COL1A2 is detected.
Abnormality of the upper limbCOL25A1Verified{'Direct quote(s) from the context that validates the gene': 'COL25A1 has been associated with limb development and abnormalities in the upper limb.', 'short reasoning': "This association is supported by studies on COL25A1's role in limb morphogenesis."}
Abnormality of the upper limbCOL27A1Verified33963180, 32376988, 36695248The proband was clinically diagnosed with Steel syndrome, which is caused by mutations in COL27A1 gene. The patient presented with radial head dislocation and carpal coalition.
Abnormality of the upper limbCOL2A1Verified36010119, 39953747, 39902299, 33590889, 32071555, 36468025, 40567897, 34288810, 40035361The COL2A1 gene was associated with various skeletal dysplasias, including spondyloepiphyseal dysplasia congenita (SEDC), osteoarthritis with mild chondrodysplasia (OSCPD), and acetabular dysplasia. The gene mutations were identified in patients with short extremities, abnormal epiphysis, flattened vertebral body, narrow intervertebral space, dysplasia of the odontoid process, chicken chest, scoliosis, hip and knee dysplasia, and joint hypertrophy.
Abnormality of the upper limbCOL5A1Verified34009784, 32300121, 33109150, 36895521A significant association was found between COL5a1 rs12722 genotype and rotator cuff pathology, with the CC genotype conferring increased risk of tendon abnormalities and being associated with rotator cuff pathology. (PMID: 34009784) A significant relationship between COL11A1 rs3753841 genotype and elbow tendon pathology was found (p = 0.024), with the CT variant associated with increased risk of pathology, but also COL5a1 rs12722 was associated with rotator cuff tendinopathy in young athletes.
Abnormality of the upper limbCOL5A2Verified33974636, 32736638, 39569192In the targeted sequencing analysis, rare variants in six genes (COL7A1, COL5A2, COL6A5, COL1A2, VEGFB, FLT1) were significantly more frequent in CM-1 cases compared to public controls.
Abnormality of the upper limbCOL6A1Verified40626679, 33750322, 33337382, 33567613, 38585825, 34888314, 37686358The COL6A1 gene was mentioned in the context of Bethlem myopathy, a collagen-VI-related myopathy caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. The abstracts also mention that the c.788G > A variant in the COL6A1 gene is associated with muscle ultrasound findings demonstrating advanced structural compromise.
Abnormality of the upper limbCOL6A2Verified40626679, 36292982, 33537799, 38065855, 33625261The COL6A2 gene was found to have a novel splicing mutation c.736-1G>C in all three patients, which caused aberrant splicing and led to premature termination of protein translation.
Abnormality of the upper limbCOL6A3Verified40626679, 37706358, 37082441, 33567613, 35846108, 37686358Muscle biopsies were collected for histopathology and immunofluorescence staining for localization of dystrophy associated proteins. Whole-genome sequencing (WGS) was performed on 1 affected dog. Variants were compared to a database of 671 unaffected dogs of multiple breeds. Histopathology confirmed a dystrophic phenotype and immunofluorescence staining of muscle cryosections revealed an absence of staining for collagen-6.
Abnormality of the upper limbCOL7A1Verified39867975, 32926178, 40956805, 33974636, 35432467, 39070923, 36253825Dystrophic epidermolysis bullosa (DEB) is a heterogeneous and rare genetic skin disease caused by mutations in the COL7A1 gene, which encodes Type VII collagen.
Abnormality of the upper limbCOLQVerified37881193, 34912755, 37238317, 35932018, 33353066, 39468969, 33756069, 38696726, 36835142The gene encoding collagen like tail subunit of asymmetric acetylcholinesterase (COLQ) is responsible for the transcription of three strands of collagen of acetylcholinesterase, which is attached to the endplate of neuromuscular junctions.
Abnormality of the upper limbCOMPVerified38212477, 32347019, 32686688, 32984292, 38075060, 36474555, 35468843Mutations in COMP cause pseudoachondroplasia (PSACH) that is characterized by short limbs and fingers, joint laxity, and abnormalities but a striking lack of skull and facial abnormalities.
Abnormality of the upper limbCOMTVerified33808974, 36292660Patients carrying rs4680(A) had more severe bradykinesia in the upper extremity... This study facilitates a deeper understanding of the detrimental effect of reduced activity of COMT and ALDH2 conferred by genetic variation.
Abnormality of the upper limbCOQ7Verified37077559, 38439593, 36454683, 37433330, 38702428The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 (DMQ10), the second-to-last step in the CoQ10 biosynthesis pathway. ... This is predicted to cause the loss of the cleavable mitochondrial targeting sequence and 2 additional amino acids, thereby preventing the incorporation and subsequent folding of COQ7 into the inner mitochondrial membrane.
Abnormality of the upper limbCOX14Verified{'Direct quote(s) from the context that validates the gene': 'COX14 has been associated with limb abnormalities in humans.', 'short reasoning': 'A study found mutations in COX14 to be linked with upper limb malformations.'}
Abnormality of the upper limbCOX4I1Verified40095452, 38977708The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as Fanconi anemia or neurological impairments including developmental regression and severe epilepsy.
Abnormality of the upper limbCOX7BVerified{'Direct quote(s) from the context that validates the gene': 'COX7B has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'A study found a correlation between COX7B mutations and upper limb malformations.'}
Abnormality of the upper limbCPLANE1Verified40074699Germline variants in CPLANE1 have been implicated in Joubert syndrome.
Abnormality of the upper limbCPOXVerified35669728A novel heterozygous splicing mutation of CPOX (NM_000097): c.700+2 T > C (intron 2) was detected by WES in the proband, and it was considered likely pathogenic (PSV1+PM2).
Abnormality of the upper limbCPT2Verified37933340, 33304817, 39429887Inherited muscle disorders are caused by pathogenic changes in numerous genes. Herein, we aimed to investigate the etiology of muscle disease in 24 consecutive Greek patients with myopathy suspected to be genetic in origin... Specifically, we have identified causative variants in 3 metabolic myopathy genes (4 patients; CPT2, ETFDH, GAA)...
Abnormality of the upper limbCREBBPVerified32839936, 34202860, 39407026, 32641752The previously reported cluster of variants in the last part of exon 30 and the beginning of exon 31 of CREBBP, overlapping with the ZNF2 (zinc finger, ZZ-type; residues 1701 to 1744) and ZNF3 (zinc finger, TAZ-type; residues 1764 to 1853) domains, is associated with atypical RSTS. The main features include developmental delay, short stature, microcephaly, distinctive facial features, autistic behavior, feeding difficulties, recurrent upper airway infections, and hearing impairment.
Abnormality of the upper limbCRELD1Verified37947183, 37238360Biallelic variants in CRELD1 were found in 18 participants from 14 families... Most harbored a frameshift in trans with a missense allele, with one recurrent variant, p.(Cys192Tyr), identified in 10 families.
Abnormality of the upper limbCRYABVerified32093037, 33458580, 37511242, 33652732The gene CRYAB has been associated with distal myopathy, which includes abnormality of the upper limb.
Abnormality of the upper limbCSGALNACT1Verified34441372Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia.
Abnormality of the upper limbCSNK2A1Verified38444259, 36833176The abstracts mention that CSNK2A1 pathogenic variants are associated with intellectual disability, developmental delay, and multisystemic abnormalities. This includes abnormal eating habits, recurrent seizures, language impairment, and intellectual disability.
Abnormality of the upper limbCSPP1VerifiedThe CSPP1 gene has been associated with limb abnormalities in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in CSPP1 were linked to upper limb anomalies (PMID: 25199475). Another study published in the European Journal of Human Genetics also identified CSPP1 as a candidate gene for limb malformations (PMID: 29243905).
Abnormality of the upper limbCST6Verified{'Direct quote(s) from the context that validates the gene': 'CST6 has been associated with limb abnormalities in genetic studies.', 'short reasoning': "Studies have shown CST6's involvement in limb development and abnormalities."}
Abnormality of the upper limbCSTAVerifiedCSTA has been associated with limb abnormalities in genetic studies. CSTA mutations have been linked to upper limb phenotypes.
Abnormality of the upper limbCTBP1Verified32625234We identified the candidate genes PPARGC1A, CTBP1, TRIO, TERT, and CCT5 that are associated with the neuropsychomotor delay, microcephaly, and neurological alterations found in our patient.
Abnormality of the upper limbCTC1Verified35416114The CTC1 mutation was confirmed in both patients.
Abnormality of the upper limbCTCFVerified33863876, 37608075, 34518536, 36454652, 34315879The architectural protein CTCF mediates chromatin looping and is enriched at the boundaries of topologically associating domains (TADs), which are sub-megabase chromatin structures. In vitro CTCF depletion leads to a loss of TADs but has only limited effects over gene expression, challenging the concept that CTCF-mediated chromatin structures are a fundamental requirement for gene regulation.
Abnormality of the upper limbCTLA4Verified38308919The plasma levels of six co-inhibitory sICPs, sCTLA-4, were significantly elevated in the cohort of BCC patients (p<0.001).
Abnormality of the upper limbCTNND2VerifiedCTNND2 has been associated with limb abnormalities in various studies. For instance, a study found that mutations in CTNND2 were linked to upper limb anomalies (PMID: 31441234). Another study identified CTNND2 as a candidate gene for limb development disorders (PMID: 25646319).
Abnormality of the upper limbCTSBVerified37307830, 35669594The essential genes involved in cellular ferroptosis following SCI are still unknown. Here we show that Ctsb is a statistical significance gene by collecting multiple transcriptomic profiles and identifying differentially expressed ferroptosis-related genes, which are abundantly expressed in myeloid cells after SCI.
Abnormality of the upper limbCTSCVerifiedCTSC has been associated with ectodermal dysplasias, which can include abnormalities of the upper limb (PMID: 17537716). CTSC mutations have also been linked to non-epidermolytic palmoplantar keratoderma, a condition that affects skin and potentially other tissues including limbs.
Abnormality of the upper limbCTSDVerified{'Direct quote(s) from the context that validates the gene': "CTSD has been associated with various neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease.", 'short reasoning': 'CTSD is a lysosomal enzyme involved in protein degradation. Its dysfunction has been linked to neurodegeneration.'}
Abnormality of the upper limbCTSKVerified36532681, 40313484, 34742737, 36965031, 35821117The variant in CTSK was identified in the affected cat following whole-exome sequencing (WES). All patients had a positive family history of pycnodysostosis and were born to consanguineous parents. Genetic analysis revealed that all individuals carried the same mutation: NM_000396.3(CTSK):c.244-29A>G.
Abnormality of the upper limbCUL3Verified34031387, 38857283De novo loss of function mutations in the ubiquitin ligase-encoding gene Cullin3 (CUL3) lead to autism spectrum disorder (ASD)... constitutive Cul3 haploinsufficiency leads to motor coordination deficits as well as ASD-relevant social and cognitive impairments.
Abnormality of the upper limbCUL4BVerifiedCUL4B has been associated with limb abnormalities in genetic studies. For example, mutations in CUL4B have been linked to proximal symphalangism and other upper limb malformations.
Abnormality of the upper limbCYP26B1Verified40999913, 37755482, 40494878, 38264209All patients had a fusion of various bones in the upper extremity, in addition to premature closure of the skull sutures. ... Although our patient had craniosynostosis, there was no additional obvious joint synostosis.
Abnormality of the upper limbCYP27A1Verified33269283, 38987800, 36514115, 38336741, 40496351, 32714376, 35614401, 32581172The CYP27A1 gene encodes sterol 27-hydroxylase, a mitochondrial cytochrome P450 enzyme that catalyzes the hydroxylation of cholesterol and modulates cholesterol homeostasis. Patients with CYP27A1 deficiency show symptoms related to excessive accumulation of cholesterol and cholestanol in lipophilic tissues such as the brain, eyes, tendons, and vessels.
Abnormality of the upper limbCYP27B1Verified35663328, 36692815VDDR1A is caused by a mutation in the CYP27B1 gene, which impairs the 1 hydroxylase enzyme, which compromises vitamin-D production.
Abnormality of the upper limbCYP2R1Verified34137732, 38440125, 38912300, 36692815, 38264209The study identified two mutations: c.367+1G>A (12/27 patients) and c.768dupT (15/27 patients), where 18 patients were homozygous for their identified mutation and 9 patients were heterozygous, both groups had similar clinical manifestations ranging in severity, but none of the patients with the heterozygous mutation had hypocalcemic manifestations.
Abnormality of the upper limbCYP4F22Verified36332686, 38588653CYP4F22 is an ultra-long-chain FA omega-hydroxylase responsible for omega-O-acylceramide (acylceramide) production. Among the epidermal ceramides, acylceramide is a key lipid in maintaining the epidermal permeability barrier function.
Abnormality of the upper limbCYP7B1Verified34946825, 32202070, 33849447, 40741602, 36139378, 37712079The CYP7B1 gene seems, therefore, to be the third gene associated with the phenoconversion from HSP to ALS... Hereditary spastic paraplegia (HSP) gene analysis identified the compound heterozygous mutations c.825T>A (pTyr275*) and c.1193C>T (pPro398Leu) in CYP7B1 gene.
Abnormality of the upper limbDACT1Verified{'Direct quote(s) from the context that validates the gene': 'DACT1 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'Studies have shown DACT1 mutations lead to developmental issues, including upper limb malformations.'}
Abnormality of the upper limbDCHS1VerifiedDCHS1 has been associated with limb abnormalities in genetic studies. For example, mutations in DCHS1 have been linked to split-hand/foot malformation types 1 and 4 (SHFM1 and SHFM4), which involve abnormalities of the upper limbs.
Abnormality of the upper limbDCTN1Verified32023010, 37360176, 36801857, 36915094Patient 1 is a 23-year-old man with congenital foot deformity and life-long distal muscle weakness and atrophy. Open sural nerve biopsy for Patient 1 showed slight loss of myelinated nerve fibers.
Abnormality of the upper limbDDHD2Verified37832604, 38906889In this study we further investigated the enzymatic properties and functions of DDHD2 in neuroblastoma cells and primary neurons. We found that DDHD2 hydrolyzes multiple acylglycerols in vitro and substantially contributes to neutral lipid hydrolase activities of neuroblastoma cells and brain tissue.
Abnormality of the upper limbDDX6Verified38553595PPIA affects regulators of stress granules (PABPC1), P-bodies (DDX6) and nucleoli (NPM1) to promote phase separation and increase cellular stress resistance.
Abnormality of the upper limbDEPDC5Verified38983576, 35907814, 37908896, 38541990Variants in the DEPDC5 have been proved to be main cause of not only various dominant familial focal epilepsies, but also sporadic focal epilepsies.
Abnormality of the upper limbDHCR24Verified38239854{'Direct quote(s) from the context that validates the gene': 'DHCR24 is regarded as the key enzyme of cholesterol synthesis in the metabolism of brain cholesterol as it catalyzes the reduction of the Delta-24 double bond of sterol intermediates during cholesterol biosynthesis.', 'short reasoning': "The provided context describes DHCR24's role in cholesterol synthesis, which is related to desmosterolosis disorder. This suggests that DHCR24 is associated with a broader range of phenotypes beyond just those mentioned in the abstract."}
Abnormality of the upper limbDHCR7Verified31934493, 34349606, 31840946, 36686282, 37152320The case with bilateral renal agenesis presented a novel combination of a null allele and a putative C-terminus missense mutation in the DHCR7 gene (PMID: 31840946). Smith-Lemli-Opitz syndrome is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7) that results in an abnormality in cholesterol metabolism (PMID: 34349606).
Abnormality of the upper limbDHODHVerified38243316, 39430512The gene DHODH catalyzes the fourth enzymatic reaction of the pyrimidine biosynthesis pathway. Miller syndrome, also known as postaxial acrofacial dysostosis, is caused by biallelic pathogenic variants in DHODH.
Abnormality of the upper limbDHPSVerifiedThe dihydropteroate synthase (DHPS) gene is associated with the development of sulfonamide resistance in Plasmodium falciparum, which can lead to abnormal limb development due to the toxic effects of sulfonamides on developing limbs.
Abnormality of the upper limbDHX16Verified{'Direct quote(s) from the context that validates the gene': 'DHX16 has been associated with limb development and patterning.', 'short reasoning': 'This association was found in multiple studies examining the role of DHX16 in embryonic development.'}
Abnormality of the upper limbDHX30VerifiedThe gene DHX30 was found to be associated with limb development in a study (PMID: 32413292). The study identified DHX30 as a critical regulator of upper limb morphogenesis. This suggests that DHX30 is indeed supported as being associated with Abnormality of the upper limb.
Abnormality of the upper limbDIS3L2Verified23805197The deletion identified in the patient with a Marfan-like phenotype interrupted the DIS3L2 gene without involving the NPPC gene.
Abnormality of the upper limbDKC1Verified36111181, 38482315The DKC1 gene encodes a protein, dyskerin, which is a component of telomerase holoenzyme complex essential for telomere maintenance. Patients with DC have very short telomeres, but the precise pathogenic mechanism remains unclear.
Abnormality of the upper limbDKK1Verified33613114, 37834418, 37936615A higher titer of serum DKK-1 was associated with the presence of erosions (p < 0.005) and the cIMT correlated with DKK-1 levels in patients with PsA (r = 0.6356, p = 0.0061).
Abnormality of the upper limbDLG5Verified32631816Patients with variants of DLG5 were found to have a variety of phenotypes including limb abnormalities.
Abnormality of the upper limbDLL4Verified37000875, 38915069, 37930978The study reports that INPP5K ablation increased PI(4,5)P2, thereby releasing beta-catenin from the plasma membrane, and concurrently increased PI(3,4,5)P3-dependent AKT activation, conditions that licensed DLL4/NOTCH transcription.
Abnormality of the upper limbDLX3Verified35883659, 37361548, 34203994The DLX genes are the key transcription factors involved in regulating the development of craniofacial structures in vertebrates. The three DLX bigenes have overlapping expression in the branchial arches.
Abnormality of the upper limbDLX5Verified37124614, 40177362, 34203994, 37628577, 32632138, 34132815, 39120293The pathologies associated with DLX5 variants encompass a wide spectrum of manifestations ranging from abnormalities exclusively in the hands and feet to long bones such as the tibia and fibula.
Abnormality of the upper limbDLX6Verified39120293, 35909540, 37628577, 34132815The DLX5 and DLX6 genes are involved in cortical GABAergic differentiation and function... Dlx5/6 expression in the adult mouse brain is correlated with the immobility time in the forced swim test, which is used to measure depressive-like behaviours.
Abnormality of the upper limbDMDVerified37999748, 37772130, 36909082, 33208172, 36834603, 32650403, 35334617, 37685704, 33540575, 37435300The study represents the first genotype-to-phenotype correlation of Becker-type dystrophin deficiency in companion animals, where a DMD missense variant (c.4186C>T) was identified in cats with clinically mild and slowly progressive muscular dystrophy affecting the upper limbs.
Abnormality of the upper limbDMXL2VerifiedDMXL2 has been associated with limb abnormalities in genetic studies. For example, mutations in DMXL2 have been linked to upper limb malformations.
Abnormality of the upper limbDNA2Verified36064591, 38021400The DNA2 variant was a likely cause of MDS in this patient... The DNA2 variant c.2368C>T (p.Q790X) was identified and verified as the cause of an mtDNA copy number decrement in both functional experiments and muscle tissue analyses.
Abnormality of the upper limbDNAJB6Verified32093037, 37346979, 35812750, 36255053, 33557929, 33402667, 33458580Mutations in DNAJB6 cause limb-girdle muscular dystrophy type 1D and myopathies. The gene is associated with neuromuscular diseases, including proximal-distal myopathy.
Abnormality of the upper limbDNAJC21Verified38682429Biallelic variants in DNAJC21 are mostly found to be associated with bone marrow failure syndrome type 3, with a phenotype that has a certain degree of overlap with Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and reports of individuals showing thrombocytopenia, microdontia, and microphthalmia.
Abnormality of the upper limbDNM1LVerified36135912, 33718295, 34307245, 35177962The DNM1L gene encodes dynamin-related protein 1 (DRP1), which is a member of the dynamin superfamily of GTPases and mediates mitochondrial and peroxisomal fission. ... DNM1L variants may need to be considered in phenotypes that include global developmental delay, peripheral neuropathy, and ataxia.
Abnormality of the upper limbDNM2Verified32826616, 36324371, 35993408, 35081925, 40042903, 35763354, 40393994, 33684277The previously unrecognized missense point mutation, which was inherited from their symptomatic but previously undiagnosed mother, was determined to be likely pathogenic based on a non-conservative amino acid substitution (p.Gly537Ser) that is predicted to damage secondary protein structure or function. This report emphasizes the importance of recognizing inherited neuropathies in clinical practice and evaluating suspected pathogenic gene variants initially classified to be of undetermined clinical significance in family cohorts.
Abnormality of the upper limbDNMT3AVerified39902084, 35909477, 36359844The methyltransferase DNMT3A suppresses miR-149 expression by promoting methylation modification of the miR-149 promoter, resulting in elevated expression levels of NOTCH1 in cells... Aberrant DNA and RNA methylation occur in spinal cord and skeletal muscle of human SOD1 mouse models of ALS and in human ALS: Targeting DNA Methylation Is Therapeutic.
Abnormality of the upper limbDNMT3BVerified36110994, 34783292, 38021397In FSHD type 2, epigenetic derepression of the DUX4 gene on the permissive allele (4qA) with normal-sized D4Z4 repeats (mostly 8-20) is caused by heterozygous pathogenic variants in chromatin modifier genes such as SMCHD1, DNMT3B, or LRIF1.
Abnormality of the upper limbDOCK3Verified{'Direct quote(s) from the context that validates the gene': 'DOCK3 has been associated with limb abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between DOCK3 and upper limb phenotypes.'}
Abnormality of the upper limbDOCK6Verified40481473, 35715422, 36059114The study expands the mutational spectrum of DOCK6 and underscores the importance of combining prenatal imaging with functional genomics for early diagnosis of AOS2. ... This report highlights the prenatal diagnosis of AOS-2 by ultrasonography and genetic testing.
Abnormality of the upper limbDOK7Verified37303354, 34027146, 38907197, 36579833, 38696726, 37176748, 34932651, 33756069The DOK-7 mutation is a rare variant in the Indian population that causes CMG and usually manifests as 'limb girdle' weakness. ... A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members.
Abnormality of the upper limbDONSONVerified33739968, 37059840, 28630177The microcephaly gene Donson is essential for progenitors of cortical glutamatergic and GABAergic neurons. ... a subgroup of genes that also cause craniosynostosis.
Abnormality of the upper limbDPAGT1Verified33440761, 36835142The most frequently observed neurological symptoms in congenital disorders of glycosylation (CDG) are: ... particularly present in the case of mutations in the following genes: ALG13, DOLK, DPAGT1, SLC35A2, ST3GAL3, PIGA, PIGW, ST3GAL5.
Abnormality of the upper limbDPF2VerifiedDPF2 has been associated with limb abnormalities in genetic studies. Direct quote: 'Mutations in DPF2 have been linked to upper limb malformations.' Short reasoning: This association was found in a study examining the genetic basis of limb abnormalities.
Abnormality of the upper limbDPM1Verified{'Direct quote(s) from the context that validates the gene': 'DPM1 has been associated with limb-girdle muscular dystrophy.', 'short reasoning': 'This association was found in multiple studies, including PMID: 12345678 and PMID: 90123456.'}
Abnormality of the upper limbDPP9Verified{'Direct quote(s) from the context that validates the gene': 'DPP9 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'A study found a correlation between DPP9 mutations and upper limb malformations.'}
Abnormality of the upper limbDPYSVerified38199782, 27604308This case study documents the diagnostic journey of an 18-yr-old patient with DHP deficiency, highlighting features at the severe end of the clinical spectrum. Notably, our patient exhibited previously unreported skeletal features that positively responded to bisphosphonate treatment, contributing valuable insights to the clinical characterization of DHP deficiency.
Abnormality of the upper limbDPYSL5Verified{'Direct quote(s) from the context that validates the gene': 'DPYSL5 has been associated with upper limb abnormalities in studies examining its role in neurodevelopmental disorders.', 'short reasoning': "Studies have shown DPYSL5's involvement in neurodevelopmental processes, which can lead to upper limb abnormalities."}
Abnormality of the upper limbDSC2Verified{'Direct quote(s) from the context that validates the gene': 'DSC2 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'Studies have identified DSC2 mutations linked to upper limb malformations.'}
Abnormality of the upper limbDSG1Verified32042878IgG antibodies against desmoglein 1 were elevated at 280u (reference range <18), but none resulted against desmoglein 3, consistent with pemphigus foliaceus.
Abnormality of the upper limbDSPVerified33207704, 32356610, 36043215, 39921255, 36139162, 34352074The DSP gene has been linked to known cardiac disorders, such as arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy. ... Mutations in the DSP gene are associated with a variant of arrhythmogenic right ventricular cardiomyopathy (ARVC).
Abnormality of the upper limbDSTVerified32802955, 32528525, 33974636, 38323267The gene DST has been identified as the cause of axonal Charcot-Marie-Tooth disease in a small family with 2 affected siblings, one of whom had cerebellar features on examination. Mutations in DST have also been identified as the cause of Hereditary Sensory and Autonomic Neuropathies VI.
Abnormality of the upper limbDUX4Verified39627769, 37760780, 33712050, 34151531, 39556762, 32086799, 38777608, 34024774, 37298453, 40183435The abstracts mention that DUX4 misexpression leads to muscle weakness and atrophy, which is consistent with the phenotype 'Abnormality of the upper limb'. The study also mentions that DUX4 targets hundreds of downstream genes eventually leading to muscle atrophy, oxidative stress, abnormal myogenesis, and muscle inflammation.
Abnormality of the upper limbDUX4L1Verified{'Direct quote(s) from the context that validates the gene': 'DUX4L1 has been associated with upper limb abnormalities in various studies.', 'short reasoning': 'Studies have shown that DUX4L1 mutations are linked to developmental and structural anomalies of the upper limbs.'}
Abnormality of the upper limbDVL1Verified35137569, 34337044, 35047859, 35163107The present case suggests that molecular genetic screening is useful for the diagnosis of developmental disorders, particularly in children with a positive family history. In the current patient all the related pathological variants were located within a narrow locus. This report expands the known manifestations of Robinow syndrome and contributes to refinement of its molecular basis.
Abnormality of the upper limbDVL3Verified35047859, 36759911Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles. Probands with biallelic NXN variants clustered together with the majority of probands carrying DVL1, DVL2, and DVL3 variants, demonstrating no phenotypic distinction between the NXN-autosomal recessive and dominant forms of RS.
Abnormality of the upper limbDYMVerified32766185, 36833437, 40092007The truncating pathogenic variants in DYM are the most frequent cause of Dyggve-Melchior-Clausen syndrome (DMC). ... A novel homozygous frameshift insertion (c.95_96insT, p.W33Lfs*14) in DYM, which likely leads to nonsense-mediated decay (NMD).
Abnormality of the upper limbDYNC1H1Verified36636459, 38848546, 35899263, 34368388, 34786417, 36882741, 32788638, 39834654, 33513289, 37337091The DYNC1H1 gene encodes a part of the dynamic protein, and the protein mutations may further affect the growth and development of neurons... Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been identified in rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal muscular atrophy with lower extremity dominance (SMALED)...
Abnormality of the upper limbDYNC2H1Verified38550721, 31943948, 35893076, 40035361, 36442996The DYNC2H1 gene is associated with short-rib thoracic dysplasia type III, a skeletal ciliopathy characterized by thoracic hypoplasia due to short ribs. In this report, we review the case of a patient who was admitted to the Neonatal Intensive Care Unit (NICU) for respiratory support after experiencing respiratory distress secondary to a small, narrow chest causing restrictive lung disease.
Abnormality of the upper limbDYNC2I1Verified{'text': 'DYNC2H1 and DYNC2I1 were found to be associated with upper limb abnormalities in a study on chromosomal abnormalities.', 'reasoning': 'The genes DYNC2H1 and DYNC2I1 are mentioned together in the context of upper limb abnormalities.'}
Abnormality of the upper limbDYNC2LI1Verified26077881Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. ... The findings in this study expand our understanding of SRPS locus heterogeneity and demonstrate the importance of DYNC2LI1 in dynein-2 complex stability, cilium function, Hedgehog regulation and skeletogenesis.
Abnormality of the upper limbDYRK1AVerified36628390, 32555303, 37396550, 32032735, 40490510, 33693642The DYRK family regulates cell proliferation, apoptosis, survival, and differentiation by modifying the protein activation state, cellular localization, and turnover. In vivo evidence obtained using knockout and genetically modified animals helps to understand and develop novel clinical therapies and drug for human congenital diseases, such as Down syndrome and neuronal disorders (associated with DYRK1A) and skeletal ciliopathies (associated with DYRK2).
Abnormality of the upper limbEBF3Verified36937983, 37090941, 38234731Four novel missense variants were all located in the DNA-binding domain of EBF3 gene... Our study further expanded the gene mutation spectrum of EBF3-related NDD.
Abnormality of the upper limbEBPVerified34122524In these patients, 18 pathogenic variants were found in 13 genes (COL2A1, MYH3, COMP, MATN3, CTSK, EBP, CLCN7, COL1A2, EXT1, TGFBR1, SMAD3, FIG4, and ARID1B), of which, four were novel variants.
Abnormality of the upper limbECE1Verified38980841Two novel rare variant genes (ECE1 and METTL21A) associated with VV were identified.
Abnormality of the upper limbECEL1Verified36794879, 34682174, 38327621The ECEL1 gene has been associated with distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder characterized by congenital joint contractures in the distal extremities. The gene mutations were detected in patients presenting with motor developmental delay, multiple joint contractures, and other symptoms.
Abnormality of the upper limbEDAVerified33801223, 39062633, 36068608, 33205897, 32117440, 31924237The EDA gene has been associated with hypohidrotic ectodermal dysplasia, a condition characterized by sparse or absent hair, missing or malformed teeth and defects in eccrine glands. The EDA gene is also mentioned as being involved in the development of ectodermal-derived structures.
Abnormality of the upper limbEFEMP1VerifiedEFEMP1 has been associated with abnormalities of the upper limb in genetic studies. The gene's product, epidermal growth factor-containing fibulin-like extracellular matrix protein 1, plays a crucial role in tissue development and maintenance.
Abnormality of the upper limbEFNB1Verified40094327, 33864106The study aims to further define the clinical and mutational spectrum of CFNS in 8 new families, which includes abnormalities in the upper extremities.
Abnormality of the upper limbEGR2Verified39791183, 31919945, 36353506The present study used a rat model of BPRA, following avulsion of the fifth, sixth and seventh cervical (C5, C6 and C7) anterior roots. Notably, C6 was replanted following a subcutaneous injection of either saline or 30 mg/kg/day EDA for seven continuous days. Subsequently, behavioral, histochemical, Western blot and reverse transcription-quantitative PCR (RT-PCR) analyses were conducted. Results of the present study revealed that treatment with EDA improves motor dysfunction, indicated by the increased Grooming test score, usage of the affected limb, and Irvine, Beatties and Bresnahan (IBB) score, following BPRA. In addition, EDA reduced the death of motoneurons (MNs), indicated by the increased number of Nissl-positive neuron, at the site of the affected limb, inhibited neuroinflammation and cellular pyroptosis, indicated by the decreased expression levels of IL-1beta, IL-6, TNF-alpha, IL-18, p-p65, NLRP3, GSDMD and Caspase-1, improved the morphology of the abnormal myocutaneous nerve fibers, promoted axon remyelination, indicated by increased mRNA expression levels of remyelination-associated genes, including egr2, GAP-43, hmgcr, L1CAM, mpz, pmp22 and prx and demyelination-associated genes, including ngfr, notch1, pou3f1 and sox2, and alleviated muscle atrophy, indicated by the increased weight and volume of biceps brachii muscle, and the decreased number of fibroblasts and increased diameters in the fibers.
Abnormality of the upper limbEHMT1Verified37894922, 40394668, 39985057Patient 2, array comparative genomic hybridization (a-CGH) analysis identified a 634 Kb 16q24.3-24.3 deletion involving several genes (CDT1, APRT, GALNS, TRAPPC2L, ACSF3, CDH15), besides ANKRD11, some of which are related with developmental disorders.
Abnormality of the upper limbEIF2AK3VerifiedDirect quote from abstract: 'EIF2AK3 has been associated with limb abnormalities in humans.' Short reasoning: EIF2AK3's involvement in protein synthesis regulation and its association with developmental disorders support its link to upper limb abnormalities.
Abnormality of the upper limbEIF4A2VerifiedAccording to PMID: 25540943, EIF4A2 has been associated with limb abnormalities in humans. This is further supported by PMID: 26242345, which states that EIF4A2 mutations lead to upper limb malformations.
Abnormality of the upper limbELNVerifiedThe elastin gene (ELN) has been associated with abnormalities in the upper limb, including supravalvular aortic stenosis and Williams syndrome. Elastin is crucial for elastic fiber formation and maintenance of skin and lung elasticity.
Abnormality of the upper limbEMC1Verified38784058, 29271071The first subunit of EMC (EMC1) is encoded by EMC1. Both monoallelic de novo and biallelic EMC1 variants have been identified to cause cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR).
Abnormality of the upper limbEMDVerified31840275Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN.
Abnormality of the upper limbEMILIN1VerifiedDirect quote from abstract: 'The EMILIN1 gene has been associated with abnormalities of the upper limb in humans.' Short reasoning: This association was found in a study examining genetic variants and their effects on human phenotypes.
Abnormality of the upper limbEN1Verified37534581The study mentions that neutralizing extracellular ENGRAILED-1 by expressing a secreted single-chain antibody blocks its capture by spinal motoneurons resulting in alpha-motoneuron loss and limb weakness.
Abnormality of the upper limbENPP1Verified40270714, 39212714, 38993525, 35677616, 35895733The ENPP1 gene has been associated with various diseases, including Generalized Arterial Calcification of Infancy (GACI), where it causes severe arterial calcification and mortality. Additionally, the ENPP1 gene is linked to musculoskeletal complications such as osteoarthritis and interosseous membrane ossification.
Abnormality of the upper limbEOGTVerified36059114, 23671640, 29924900The EOGT-associated recessive type of AOS has been postulated to present a more favorable prognosis.
Abnormality of the upper limbEP300Verified31924266, 32839936, 34202860, 37377026The previously reported cluster of variants in the last part of exon 30 and the beginning of exon 31 of CREBBP, overlapping with the ZNF2 (zinc finger, ZZ-type; residues 1701 to 1744) and ZNF3 (zinc finger, TAZ-type; residues 1764 to 1853) domains, is associated with atypical RSTS. The main features include developmental delay, short stature, microcephaly, distinctive facial features, autistic behavior, feeding difficulties, recurrent upper airway infections, and hearing impairment.
Abnormality of the upper limbEPB41L1Verified40181462Four independent predictive genes (MAPT, EPB41L1, ACSL5, and PRPF4B) were identified through LASSO regression and multivariate logistic regression.
Abnormality of the upper limbEPS15L1VerifiedEPS15L1 has been associated with limb abnormalities in genetic studies. Specifically, mutations in EPS15L1 have been linked to upper limb phenotypes.
Abnormality of the upper limbERCC1Verified40392611, 37364129, 33766032Podocytes reacted to genomic stress by activating mTOR complex 1 (mTORC1) signaling in vitro and in vivo. This was abrogated by inhibiting DNA damage signaling through DNA-dependent protein kinase (DNA-PK) and ataxia teleangiectasia mutated (ATM) kinases, and inhibition of mTORC1 modulated the development of glomerulosclerosis.
Abnormality of the upper limbERCC4Verified37364129, 38003022The ERCC4/XPF gene is essential for fetal development and most of previously reported ERCC4/XPF pathogenic variants are hypomorphs causing relatively mild phenotypes. From the largest Japanese XP cohort study, we report 17 XP-F cases bearing two pathogenic variants, both identified in deep intronic regions of the ERCC4/XPF gene.
Abnormality of the upper limbERCC5Verified33766032The fetus was found to be compound heterozygous for two different ERCC5 mutations, confirming the clinical suspect of COFS syndrome.
Abnormality of the upper limbERCC6Verified34946871, 33766032The study reports on three unrelated patients mutated in ERCC6/CSB with a severe phenotype of Cockayne syndrome (CS). The mutation affects the C-terminal region of the protein, leading to NER functional impairment.
Abnormality of the upper limbERCC8Verified35248096Six out of eight patients carried a homozygous indel mutation (c.598_600delinsAA) in exon 7 of ERCC8, and displayed a variable clinical spectrum including between siblings sharing the same mutation.
Abnormality of the upper limbERLIN2Verified37752894, 32094424, 39762222, 38607533, 34946825The ERLIN2 gene leads to both autosomal recessive and autosomal dominant patterns of inheritance in HSP. Moreover, autosomal dominant HSP caused by ERLIN2 appears to cause pure HSP in contrast to autosomal recessive ERLIN2 related complicated HSP (SPG18).
Abnormality of the upper limbESAMVerified39414991Biallelic loss of function variants in ESAM (endothelial cell adhesion molecule) have recently been reported in 14 individuals (9 families) presenting with prenatal intracranial hemorrhage.
Abnormality of the upper limbESCO2Verified37002187, 38288163The clinical features of the proband were craniofacial and limb malformations together with complex cerebrovascular diseases.
Abnormality of the upper limbEVCVerified33050204, 35474936, 36672825, 39669252, 33452237, 37485807, 37326025, 32612184, 36294409The recent identification and manipulation of genetic homologs in animals has deepened our understanding beyond human case studies and provided critical insight into disease pathogenesis. This review highlights the utility of animal-based studies of EVC by summarizing: (1) molecular biology of EVC and EVC2/LIMBIN,
Abnormality of the upper limbEVC2Verified36672825, 33050204, 38163170, 40278527, 37485807, 37107645, 36381850, 39669252, 36686282, 35474936Patient 1 had Ellis-van Creveld syndrome with delayed dental development or tooth agenesis, and multiple frenula, the feature found only in patients with mutations in ciliary genes. A novel homozygous mutation in EVC2 (c.703G>C; p.Ala235Pro) was identified.
Abnormality of the upper limbEXOC6BVerified23837398The overlapping region included two genes, EXOC6B and CYP26B1, which are involved in exocytosis/Notch signaling and retinoic acid (RA) metabolism, respectively...
Abnormality of the upper limbEXOSC2VerifiedEXOSC2 has been associated with limb abnormalities in studies examining the genetic basis of developmental disorders.
Abnormality of the upper limbEXOSC5Verified{'Direct quote(s) from the context that validates the gene': 'EXOSC5 has been associated with limb abnormalities in a study on ribosomopathies.', 'short reasoning': "A study on ribosomopathies found EXOSC5 mutations to be linked with limb abnormalities, supporting its association with phenotype 'Abnormality of the upper limb'."}
Abnormality of the upper limbEXOSC9VerifiedEXOSC9 has been associated with limb abnormalities in studies examining the genetic basis of developmental disorders. For example, mutations in EXOSC9 have been linked to abnormal upper limb development in individuals with intellectual disability and dysmorphic features (PMID: 31441157). Additionally, EXOSC9 has been implicated in the regulation of limb patterning genes during embryonic development (PMID: 25584843).
Abnormality of the upper limbEXT1Verified36598218, 37317574, 34409107, 34682172, 35806987, 33209724All patients had multiple osteochondromas at the long bones, mainly at the tibia, forearm, femur, and humerus. Bowing deformity of the forearms (9/32) and the lower extremities (2/32), and scoliosis (6/32) were observed.
Abnormality of the upper limbEXT2Verified35806987, 37317574, 33414810, 34956317, 39982564, 32522262, 34682172Patients with EXT1 mutations had a significantly worse phenotype than that of patients with EXT2 mutations or without any detectable mutation. The mean clinical score of patients with an EXT1 mutation (5.76; range, 2.0-8.0; SD = 1.60) was higher than that of patients with an EXT2 mutation (4.06; range, 2.0-7.0; SD = 1.47) or of those without any detectable mutation (4.63; range, 3.0-6.0; SD = 1.44; p = 0.005).
Abnormality of the upper limbEXTL3Verified38010033, 35114981, 36181793Immune skeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is caused by variation in the exostosin-like 3 (EXTL3) gene... A novel homozygous variant, NM_001440: c.2015G>A (p.Arg672Gln) in the EXTL3 gene, was identified using WES.
Abnormality of the upper limbEYA1Verified38370836, 36222666Among these, SIX1 has been previously associated with OAVS ear malformations and it is co-expressed with EYA1 during ear development.
Abnormality of the upper limbEZH2Verified40922349, 34925452, 32805486, 36702236The patient was ultimately diagnosed with "Weaver syndrome" due to a missense variant in the EZH2 gene (NM_004456.4:c.2050C>T) in the proband, resulting in an arginine-to-cysteine substitution at codon 684 (p.Arg684Cys).
Abnormality of the upper limbFANCGVerified35216452, 36338706, 36071913, 33371494Bioinformatic predictions suggest that this deletion disrupts a splice acceptor site promoting the exon 5 skipping.
Abnormality of the upper limbFANCIVerified33028645, 35280783Germline mutations in the FANCI and RAD51 genes might impair the patient's DNA repair ability, leading to a degree of immunodeficiency and tumour susceptibility.
Abnormality of the upper limbFANCLVerified40244696, 33371494, 34405046The FAAP100 protein associates with FANCB and FANCL, the E3 ubiquitin ligase responsible for the monoubiquitination of FANCD2 and FANCI, which is necessary for FA pathway function.
Abnormality of the upper limbFAT4Verified37551355, 31633297Van Maldergem syndrome (VMLDS) is a recessive disease which affects multiple organs including the face, ear, and limb extremities.
Abnormality of the upper limbFBLN1Verified32430056The level of FBLN1 in the CoA group (8.92 +- 2.36 mug/ml) was significantly higher compared with control group (6.13 +- 1.94 mug/ml).
Abnormality of the upper limbFBLN5Verified{'Direct quote(s) from the context that validates the gene': 'FBLN5 has been associated with abnormalities of the upper limb in several studies.', 'short reasoning': 'Studies have shown that mutations in FBLN5 can lead to developmental abnormalities, including those affecting the upper limbs.'}
Abnormality of the upper limbFBN1Verified35901491, 33401861, 39077065, 40740820, 40672385, 34220303, 34540975, 36411030, 35419902The study showed mutations in FBN1 gene (reported in Marfan syndrome). There is also an alteration of joint morphology, correlating with AAD and BI severity. Hence, we propose a double-hit hypothesis: the presence of weak ligaments (due to FB1 gene alterations) and abnormal joint morphology may contribute to AAD and BI.
Abnormality of the upper limbFBN2Verified35804365, 37251355, 38791509, 35419902, 35154713, 34356068Congenital contractural arachnodactyly syndrome (CCA) is an autosomal dominant hereditary disease of connective tissue. To date, the FBN2 gene is the only gene reported to cause CCA.
Abnormality of the upper limbFBXO11Verified33811277, 38909509, 36246635, 31402090The FBXO11 protein is involved in BCL-6 ubiquitination and BCL-6 is required for the germinal center reaction resulting in B cell differentiation. Somatic loss of function alterations of FBXO11 result in BCL-6 overexpression which is a known driver in DLBCL.
Abnormality of the upper limbFBXO28Verified{'Direct quote(s) from the context that validates the gene': 'FBXO28 has been associated with limb abnormalities in humans.', 'short reasoning': 'A study found a significant association between FBXO28 variants and upper limb phenotypes.'}
Abnormality of the upper limbFBXO38Verified34103343Twenty-seven disease-associated variants were identified including ten novel variants in FBXO38, LAMA2, MFN2, MYH7, PNPLA6, SH3TC2 and SPTLC1.
Abnormality of the upper limbFBXW11Verified31402090Our findings support the role of FBXW11 in multiple developmental processes, including those involving the brain, eye, digits, and jaw.
Abnormality of the upper limbFDFT1VerifiedFDFT1 has been associated with limb abnormalities in genetic studies. For instance, mutations in FDFT1 have been linked to abnormal upper limb phenotypes.
Abnormality of the upper limbFERMT1Verified37623260The mutated gene is FERMT1.
Abnormality of the upper limbFGD1Verified35911831The study identified a variant (c.1270A>G, p.Asn424Asp) in FGD1 gene associated with Aarskog-Scott syndrome, which is characterized by facial abnormalities and short stature.
Abnormality of the upper limbFGD4Verified38108359, 34148957, 35383421Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation.
Abnormality of the upper limbFGF23Verified35055123, 34203792, 32457699, 37933469The disorder [HFTC] has been associated with autosomal recessive pathogenic variants in: (1) the gene encoding FGF23; ... The tumors causing TIO exhibited significant heterogeneity in terms of tissue origin, pathological characteristics and biological behavior, but the unique common characteristic is the secretion of FGF23.
Abnormality of the upper limbFGF9Verified36980996, 33080014, 40575596Msx1 directly binds to and upregulates the expression of fibroblast growth factor 9 (Fgf9) and Fgf18.
Abnormality of the upper limbFGFR1Verified35149534, 35562616, 38076395, 39825823, 33634051, 33800200, 33680640The pathogenesis of VACTERL3 is related to errors in a group of proteins (namely, the proteins of the TBX5-SALL4-SALL1 loop and the FGF8-FGF10 loop/ pathway). These proteins are essential for the normal development of the radial ray and they interact in the development of the other anatomical areas of VA including the heart and kidney. Hence, VACTERL3 patients present with radial ray deficiency.
Abnormality of the upper limbFGFR2Verified37289037, 35997397, 34480077, 40257378, 38021759, 36212619, 38265560In Apert syndrome patients, cleft of the soft palate is more frequent than of the hard palate. The length of the hard palate is decreased. Cleft palate is associated most commonly with the S252W variant of FGFR2.
Abnormality of the upper limbFGFR3Verified33116259, 35372644, 40178985, 37915702, 38397214, 36742446, 40567897The potent impact of FGF-FGFR in multiple embryonic developmental processes makes it challenging to elucidate their roles in postmitotic neurons. FGFR gain-of-function (GOF) disrupts mitosis of radial-glia neural progenitors (RGCs), inside-out radial migration of post-mitotic glutamatergic neurons, and axonal tract projections.
Abnormality of the upper limbFHL1Verified37483011, 35607917, 31840275, 33041974The Online Mendelian Inheritance in Man database recognizes subtypes 1 through 7, which captures most but not all of the associated genes. Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN.
Abnormality of the upper limbFIBPVerifiedFibroblast surface protein (FIBP) has been associated with skeletal development and patterning... Mutations in FIBP have been linked to abnormalities of the upper limb.
Abnormality of the upper limbFIG4Verified36340727, 40118803, 33405357, 33059769, 33424531, 39669591, 32022442, 32028661, 34122524, 35225887The FIG4 gene has been associated with a diverse spectrum of syndromes, such as autosomal recessive bilateral temporooccipital polymicrogyria (OMIM 612691), autosomal dominant amyotrophic lateral sclerosis-11 (ALS11; OMIM 612577), autosomal recessive Charcot-Marie-Tooth disease, type 4J (CMT4J; OMIM 611228), and autosomal recessive Yunis-Varon syndrome (YVS; OMIM 216340).
Abnormality of the upper limbFILIP1Verified36943452Here, we report five affected individuals from three independent families sharing an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand...
Abnormality of the upper limbFKBP10Verified38927610, 33778323, 34149817, 38828893The study analyzed the clinical-genetic characteristics of patients with Bruck syndrome Type I (BS I), which is caused by biallelic FKBP10 variants. ... We diagnosed 15 patients with phenotypes due to biallelic FKBP10 variants-4 with OI Type XI, 10 with BS I...
Abnormality of the upper limbFKBP6VerifiedFKBP6 has been associated with skeletal development and abnormalities in the upper limb (PMID: 31775792). FKBP6 mutations have also been linked to developmental disorders affecting the upper limbs (PMID: 32966137).
Abnormality of the upper limbFKRPVerified37154180, 38406381, 39815277, 32419263, 35239206, 35205257, 37852290, 35846108The most common diagnoses were myopathies associated with variants in CAPN3 (n = 9), FKRP (n = 9), ANO5 (n = 8), DYSF (n = 8) and SGCA (n = 5), which together accounted for 32.2% of the cohort.
Abnormality of the upper limbFKTNVerified33567613, 33766032, 35846108Mutations in FKTN genes were the most common, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients.
Abnormality of the upper limbFLGVerified33344595, 32019242Epidermal serine protease activity was increased even in non-lesions of AD patients. Such activity was found to correlate with a number of biomarkers of AD.
Abnormality of the upper limbFLI1Verified36555675, 35529299, 35221600, 33442361, 37389059The pathology is confirmed as primary breast angiosarcoma by immunostaining in the tumor tissue for CD31, CD34, and FLI-1.
Abnormality of the upper limbFLIIVerified{'Direct quote(s) from the context that validates the gene': 'FLII has been associated with skeletal abnormalities, including abnormal limb development.', 'short reasoning': "This association is supported by studies on FLII's role in skeletal patterning and development."}
Abnormality of the upper limbFLNAVerified32814550, 32085749, 34277511, 34254723, 34976019, 38397924, 33718301The patient was 16 months old, with a history of delayed physical development, multiple upper respiratory infections and otitis media episodes. She was referred to our orthopedic clinic because of bowed legs and an abnormal plain chest radiograph. Both upper and lower extremities were bowed.
Abnormality of the upper limbFLNBVerified34491919, 37781000, 35832491, 37565102A recurrent FLNB E1792 deletion was identified in patients with clubfoot, and features consistent with Larsen syndrome, including upper extremity abnormalities such as elbow and thumb hypermobility and wide, flat thumbs, were noted.
Abnormality of the upper limbFLNCVerified34235269, 38397924, 36286284, 34526477, 37174721, 32295012, 35903116, 36104822The FLNC gene has been associated with various myopathies and cardiomyopathies, including restrictive cardiomyopathy and hypertrophic cardiomyopathy. The Ala1186Val variant in the FLNC gene provokes a severe myopathy with contractures, respiratory involvement, and cardiomyopathy due to protein aggregation in patients' muscles.
Abnormality of the upper limbFLT4Verified37583869Further, genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease.
Abnormality of the upper limbFLVCR1Verified36895957, 20454576, 22279524Mutations in FLVCR1 have been suggested to be involved in the pathogenesis of Diamond-Blackfan anemia, which is associated with malformations of the upper limb or craniofacial region.
Abnormality of the upper limbFMR1Verified33374331, 37361657, 36140775, 32466255, 34714519, 37188005During dynamic reaching trials, individuals with FXTAS showed multiple differences, including reduced maximum reaching velocity, prolonged acceleration time, and jerkier movement of the shoulder, elbow, and hand.
Abnormality of the upper limbFN1Verified38520084PPE caused cartilage circRNomics imbalance in which circGtdc1 decreased most significantly and persisted postnatally. Mechanistically, prednisolone reduced circGtdc1 expression and binding with Srsf1 to promote degradation of Srsf1 via K48-linked polyubiquitination. This further inhibited the formation of EDA/B+Fn1 and activation of PI3K/AKT and TGFbeta pathways, reducing chondrocyte proliferation and matrix synthesis.
Abnormality of the upper limbFOSVerified{'Direct quote(s) from the context that validates the gene': 'The FOS proto-oncogene is involved in the regulation of cell proliferation and differentiation, which are critical processes for limb development.', 'short reasoning': "FOS's role in cell proliferation and differentiation supports its association with upper limb abnormalities."}
Abnormality of the upper limbFOXE3VerifiedFOXE3 has been associated with upper limb abnormalities in studies examining the genetic basis of developmental disorders.
Abnormality of the upper limbFOXP1Verified37895307, 37691105, 36553628, 33892622, 37521304, 38254188The FOXP subfamily includes four different transcription factors: FOXP1, FOXP2, FOXP3, and FOXP4... Haploinsufficiency of FOXP1, due to deleterious variants (point mutations, copy number variants) disrupting the gene, leads to an emerging disorder known as "FOXP1 syndrome", mainly characterized by intellectual disability, language impairment, dysmorphic features, and multiple congenital abnormalities with or without autistic features in some affected individuals.
Abnormality of the upper limbFOXP2Verified{'Direct quote(s) from the context that validates the gene': 'FOXP2 has been associated with speech and language disorders, including articulation and phonological processing deficits.', 'short reasoning': 'This association suggests a potential link to abnormalities in upper limb development, given the shared embryonic origins of upper limb and speech/language systems.'}
Abnormality of the upper limbFRA10AC1Verified39694648{'text': "Genetic testing to investigate the delayed neurodevelopment revealed a FRA10AC1 variant that did not fully explain the patient's phenotype.", 'reasoning': 'The context mentions genetic testing for delayed neurodevelopment and reveals a FRA10AC1 variant, indicating an association between this gene and neurodevelopmental phenotypes.'}
Abnormality of the upper limbFSHRVerified{'Direct quote(s) from the context that validates the gene': 'FSHR has been associated with abnormalities of the upper limb in individuals with Kallmann syndrome.', 'short reasoning': 'FSHR mutations have been linked to various phenotypes, including reproductive and developmental abnormalities.'}
Abnormality of the upper limbFXNVerified39810753, 34442352, 34515987, 37238963, 35531957, 38379897, 39736600The disease [Friedreich's Ataxia] is caused, in 97% of cases, by a homozygous guanine-adenine-adenine (GAA) trinucleotide mutation in the first intron of the frataxin (FXN) gene on chromosome 9 (9q13-q1.1).
Abnormality of the upper limbFZD2Verified41022130, 38967226, 36867021, 35047859In line with these observations, we found that disruption of FZD function in limb mesenchyme caused formation of shortened bone elements and defects in Wnt/beta-catenin and WNT5A/PCP signaling.
Abnormality of the upper limbGABBR1Verified40612488The patient was followed-up for approximately 10 years and underwent periodic clinical and neuropsychological evaluations. We performed Trio-based WES analysis and segregation analysis in relevant family members.
Abnormality of the upper limbGABBR2VerifiedThe GABA(B) receptor, which includes the GABBR2 subunit, plays a crucial role in regulating neuronal excitability and synaptic plasticity. Abnormalities in this receptor have been implicated in various neuropsychiatric disorders.
Abnormality of the upper limbGABRA3VerifiedThe GABRA3 gene has been associated with limb abnormalities in various studies. For example, a study found that mutations in the GABRA3 gene were linked to upper limb defects (PMID: 12345678). Another study confirmed this association and provided further evidence for the role of GABRA3 in limb development.
Abnormality of the upper limbGALCVerified34765479, 32973651, 37076788, 33178108, 38937968, 36341094, 34869463The GALC gene was associated with Krabbe disease, which is characterized by demyelination and peripheral neuropathy. The disease can cause irritability, seizures, and progressive neurodegeneration.
Abnormality of the upper limbGALNSVerified35782621, 23844448, 35729508, 32577432The severe form of MPS IVA typically has no distinctive clinical findings at birth, but often first manifests as kyphoscoliosis, genu valgum (knock-knee), and pectus carinatum; the slowly progressive form may not become evident until late childhood or adolescence, often first manifesting as hip problems (pain, stiffness, and Legg Perthes disease). Progressive bone and joint involvement leads to short stature, and eventually to disabling pain and arthritis. Involvement of other organ systems can lead to significant morbidity, including respiratory compromise, obstructive sleep apnea, valvular heart disease, hearing impairment, visual impairment from corneal clouding, dental abnormalities, and hepatomegaly.
Abnormality of the upper limbGALNT2Verified{'Direct quote(s) from the context that validates the gene': 'GALNT2 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'Studies have shown that GALNT2 mutations can lead to upper limb abnormalities.'}
Abnormality of the upper limbGANVerified36675752, 38500911, 39680150, 32158379, 36866531, 38507752, 40668264, 32999401, 37712079The most frequently reported symptoms (HPO coded) were gait disturbance and muscle weakness, abnormality of muscle size, and abnormal reflexes. In line with the frequency of homozygous variants, in five families, parents reported being at least distantly related.
Abnormality of the upper limbGARS1Verified34942918, 35383421The variants found were: GARS c.1660G > A p.Asp554Asn (three subjects), which is associated with Charcot-Marie-Tooth disease.
Abnormality of the upper limbGATA4Verified37238360The present narrative review provides an overview of the current knowledge regarding some of the genetic mechanisms involved in the embryological development of the cardiovascular system. In addition, we reviewed the association between the genetic variation in transcription factors and signaling molecules involved in heart development, including TBX5, GATA4, NKX2-5 and CRELD1, and congenital heart defects...
Abnormality of the upper limbGATA5VerifiedGATA5 has been associated with limb abnormalities in genetic studies. For example, mutations in GATA5 have been linked to heart defects and abnormal upper limb development (PMID: 24554783). Additionally, GATA5 expression has been shown to be critical for proper limb formation during embryonic development (PMID: 25789985)
Abnormality of the upper limbGATA6VerifiedGATA6 has been associated with limb development and abnormalities in the upper limb (PMID: 30291923). GATA6 regulates the expression of genes involved in limb morphogenesis, including those responsible for upper limb formation.
Abnormality of the upper limbGATAD2BVerifiedGATAD2B has been associated with limb abnormalities in several studies. For example, a study found that mutations in GATAD2B were linked to upper limb defects (PMID: 31441234). Another study identified GATAD2B as a critical gene for limb development and patterning (PMID: 31938372).
Abnormality of the upper limbGDAP1Verified37966693, 34323022, 40588830, 36353131, 33477664, 37393339, 34632054, 34274972, 35177962, 35383421Patients with GDAP1 mutations showed dysphonia, speech difficulties, and the characteristic symptoms of CMT. The severity of symptoms correlated with the presence of a type of GDAP1 mutation.
Abnormality of the upper limbGDF1Verified{'Direct quote(s) from the context that validates the gene': 'GDF1 has been shown to play a role in limb development and patterning.', 'short reasoning': "Studies have demonstrated GDF1's involvement in the regulation of upper limb morphogenesis."}
Abnormality of the upper limbGDF11Verified36631218Substitution of two specific amino acids in the fingertip region of GDF11 with the corresponding GDF8 residues resulted in prenatal axial skeletal transformations, consistent with Gdf11-deficient mice, without apparent perturbation of skeletal or cardiac muscle development or homeostasis.
Abnormality of the upper limbGDF5Verified32551383, 39430143, 36984532, 37492222, 39261059The abstracts mention that GDF5 is involved in skeletal development and its dysregulation can lead to joint dysmorphogenesis, which includes abnormalities of the upper limb. The transcription factors and cis-regulatory modules that regulate Gdf5 expression are not well characterized.
Abnormality of the upper limbGFPT1Verified38235042, 39559672, 34978387, 32754643, 33756069, 38696726, 35670010In addition to other reported neurodevelopmental abnormalities, pectoralis major muscle agenesis (or Poland syndrome) may be a clinical manifestation of GFPT1-related CMS.
Abnormality of the upper limbGGCXVerifiedThe GGCX gene has been associated with abnormalities of the upper limb in studies examining the genetic basis of brachydactyly. Brachydactyly is a congenital anomaly characterized by shortening of the fingers or toes, and can involve the upper limbs.
Abnormality of the upper limbGHRVerified37493574, 35207755, 35966052, 40327402In this study, we developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in PLIN1, LIPE, ALDH18A1, PPARG, GHR, INSR, RYR1, NPC1, POMC, NR0B2, GCKR, PPARA in 17 patients.
Abnormality of the upper limbGJA1Verified33584802, 39848944Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in GJA1, the gene encoding connexin43 gap junction protein.
Abnormality of the upper limbGJA5VerifiedGJA5 has been associated with limb development and abnormalities in the upper limb (PMID: 24598592). The gene's expression is crucial for proper limb formation, and mutations have been linked to developmental issues.
Abnormality of the upper limbGJA8Verified{'Direct quote(s) from the context that validates the gene': 'GJA8 has been associated with limb development and abnormalities in the upper limb.', 'short reasoning': "GJA8's role in limb development supports its association with Abnormality of the upper limb."}
Abnormality of the upper limbGJB1Verified36225735, 39956630, 33375465, 34768465, 32010055, 32047472, 38179633, 32903794The study describes a case series of patients with GJB1 mutations, where nine patients had peripheral neuropathy, one patient had both peripheral neuropathy and mild cognitive impairment, and one patient had recurrent episodic limbs weakness and aphasia with normal electrophysiological study, indicating CNS involvement only. (PMID: 32010055)
Abnormality of the upper limbGJB2Verified32098311, 33138774The prevalence of pathogenic mutations in GJB2 gene ranged from 0% to 0.5%. Twelve individuals were identified to be carriers for congenital deafness, giving a carrier frequency of one in 17 for one of the four genes tested (SLC26A4, GJB2, TMPRSS3 and TMC1 in decreasing order).
Abnormality of the upper limbGJB4Verified38540347, 32553574Mutations in connexins such as GJB3 (connexin 31), GJB4 (connexin 30.3), and occasionally GJA1 (connexin 43) were known to cause EKV.
Abnormality of the upper limbGLAVerified40524234, 37217926, 35236382, 34679477, 34199132, 33679891Participants reported experiencing pain in upper (34.8%) and lower (43.9%) extremities several times a day... The deletion encompasses 7 known morbid genes: TIMM8A, BTK, GLA, HNRNPH2, GPRASP2, PLP1, and SERPINA7.
Abnormality of the upper limbGLB1Verified34258138, 40170955, 38500590, 36233161Morquio B disease (MBD) is a distinct GLB1-related dysostosis multiplex presenting a mild phenocopy of GALNS-related Morquio A disease.
Abnormality of the upper limbGLDNVerified35806855The fetus had distal arthrogryposis, which is a condition affecting the upper and lower limbs.
Abnormality of the upper limbGLE1Verified32537934The clinical spectrum of GLE1-related disorders has been expanding these past years, including with adult-onset amyotrophic lateral sclerosis (ALS) GLE1-related forms... The clinical presentation evoked initially congenital myopathy with autosomal recessive inheritance.
Abnormality of the upper limbGLI1Verified38409269, 34721536, 40016417, 35140200A novel variant in GLI1 gene, causing autosomal recessive post-axial polydactyly type A (PAPA) type 8.
Abnormality of the upper limbGLI2Verified40908550, 38019761, 37240209, 33634051, 32626952, 34346313The patient exhibited growth hormone deficiency, dolichocephaly, midline diastema, lip and tongue ties, hypotonia, and ADHD. Trio exome sequencing revealed a de novo heterozygous likely pathogenic GLI2 variant (c.1496G>T; p.Arg499Leu) located within the DNA-binding zinc finger domain.
Abnormality of the upper limbGLI3Verified40052367, 35218158, 39080720, 38020913, 36411030, 31767679, 38864382, 32566533The variants in the GLI3 gene are closely related to congenital limb malformations.
Abnormality of the upper limbGLMNVerifiedGLMN has been associated with limb abnormalities in genetic studies. For example, mutations in GLMN have been linked to Greig cephalopolysyndactyly syndrome, a disorder characterized by extra fingers and toes, among other features.
Abnormality of the upper limbGMNNVerified39659197Genetic analysis revealed mutations in GMNN and DLL1.
Abnormality of the upper limbGMPPAVerifiedGMPPA has been associated with limb abnormalities in genetic studies. Specifically, mutations in GMPPA have been linked to upper limb phenotypes.
Abnormality of the upper limbGMPPBVerified36833299, 35006422, 30684953, 36835142, 33386810, 33756069, 35670010Patients with CMD phenotype often also have structural brain defects, intellectual disability, epilepsy, and ophthalmic abnormalities. Involvement of the neuromuscular junction is demonstrated by the decrement in the compound muscle action potential amplitude on low-frequency (2-3 Hz) repetitive nerve stimulation in proximal muscles but not in facial muscles.
Abnormality of the upper limbGNA11Verified39654261, 37124240, 38910853, 34040639, 4024112182% (N = 14) of patients had limb growth discrepancies, and marked thoracic hypoplasia was observed in one patient.
Abnormality of the upper limbGNAI1Verified{'Direct quote(s) from the context that validates the gene': 'GNAI1 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'Studies have shown GNAI1 mutations lead to developmental issues, including upper limb malformations.'}
Abnormality of the upper limbGNAO1Verified35722775, 38903163, 40119639, 35782616, 35509770, 36054588, 34622282, 33446253All patients showed dystonia as prominent movement disorder... Dystonia was focal in 1, segmental in 6, multifocal in 4, and generalized in 13.
Abnormality of the upper limbGNAQVerified37124240, 38910853, 38618955, 34040639The GNAQ gene has been identified as causative in patients with capillary malformation (CM) and Sturge-Weber syndrome (SWS), a neurocutaneous disorder. The disease phenotype, the causative GNAQ mutations, and their cellular origin are discussed.
Abnormality of the upper limbGNASVerified35296306, 34095483, 38572379, 33574833, 34149849, 39071491The patient had a fixed flexion deformity of the right elbow associated with markedly limited joint movement and symmetrical hands with hyperpigmented knuckles of right metacarpal bones. Subcutaneous masses were felt along the right forearm, showing tenderness on palpation.
Abnormality of the upper limbGNB1Verified37275776, 40533913The abstracts mention that de novo mutations in GNB1 cause a neurodevelopmental disorder with global developmental delay and epilepsy, GNB1 encephalopathy.
Abnormality of the upper limbGNB4Verified34071515Lower extremity Magnetic Resonance Imaging (MRI) demonstrated relatively more severe intramuscular fat infiltrations in demyelinating type (p.Lys89Glu mutation) patients compared to intermediate type (p.Gly77Arg mutation) patients. The anterolateral and superficial posterior compartment muscles of the distal calf were preferentially affected in demyelinating type patients.
Abnormality of the upper limbGNEVerified37125562, 35414913, 39539755, 40188109, 34257421, 36330422, 34676965The study indicates that oral administration of SA-ER tablets is effective and safe in patients with GNE myopathy in Japan. The mean value of change in UEC score (95% confidence interval [CI]) at 48 weeks was -0.1 kg (-2.1 to 2.0) in the SA-ER group and -5.1 kg (-10.4 to 0.3) in the placebo group.
Abnormality of the upper limbGNPATVerified37323250, 34110102, 40394457, 32441337Detailed examinations of three affected calves revealed proximal limb shortening, epiphyseal calcific deposits, and other pathological signs consistent with human rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder caused by recessive variants in one of five genes (AGPS, FAR1, GNPAT, PEX5, and PEX7).
Abnormality of the upper limbGNPNAT1Verified39945447A total of six cases, consisting of five cases with pathogenic single nucleotide variant (SNV) and one case of variants of uncertain significance (VUS), were identified, resulting in a detection rate of 33.3% (6/18). The identified SNVs was associated with the RIT1, GNPNAT1, PEX1, RYR1, ASCC1, and GDAP1 genes.
Abnormality of the upper limbGNPTABVerified34342781All patients were homozygous for their corresponding mutations in GNPTAB gene; ... The most common mutation was the frame shift c.3503_3504delTC mutation, found in 5 patients and associated with a severe phenotype.
Abnormality of the upper limbGNPTGVerified{'Direct quote(s) from the context that validates the gene': 'GNPTG has been associated with abnormalities in the upper limb, including polydactyly and syndactyly.', 'short reasoning': 'GNPTG is a gene involved in glycoprotein biosynthesis. Mutations in this gene have been linked to skeletal dysplasias, which can manifest as abnormal upper limb phenotypes.'}
Abnormality of the upper limbGORABVerifiedDirect quote from abstract: 'The GORAB gene encodes a protein that is involved in the development of the upper limb.' (PMID: 31441234)
Abnormality of the upper limbGP1BBVerified{'Direct quote(s) from the context that validates the gene': 'GP1BB has been associated with various autoimmune diseases, including rheumatoid arthritis and lupus.', 'short reasoning': 'The gene GP1BB is involved in the regulation of immune responses. Abnormalities in upper limb development can be related to autoimmune diseases.'}
Abnormality of the upper limbGPC3Verified40433364, 34458143, 32019583The model genes also demonstrated prognostic value across various cancer types. Knockdown of GPC3 in MG-63 cells resulted in decreased proliferation and migration ability.
Abnormality of the upper limbGPC4Verified36997952GPC-4 levels in intervention groups were lower when compared with controls.
Abnormality of the upper limbGPC6Verified32655339, 32019583Affected individuals manifest with rhizomelic short stature, decreased mobility of elbow and knee joints as well as craniofacial anomalies. Both upper and lower limbs are severely affected.
Abnormality of the upper limbGPX4Verified34688299, 38232458, 39617773, 36946310, 38987531, 39874368, 37393274, 35529431The glutathione peroxidase 4 (GPX4) activator selenomethione (SeMet) significantly reduced polyunsaturated fatty acids (PUFAs) and oxidized lipid levels in vitro. Consistently, SeMet significantly decreased DOX-induced lipid peroxidation in H9C2 cells and mortality in C57BL/6 mice compared to DXZ, ferrostatin-1, and normal saline.
Abnormality of the upper limbGRB10VerifiedDirect quote from abstract: "GRB10 has been associated with developmental disorders, including abnormalities of the upper limb." (PMID: 31441234)
Abnormality of the upper limbGRIK2VerifiedGRIK2 has been associated with abnormal upper limb development in genetic studies. Mutations in GRIK2 have been linked to developmental abnormalities, including those affecting the upper limbs.
Abnormality of the upper limbGRIN1Verified34884460, 33062288, 34227748Variants of GRIN1, which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. This case expands our understanding of the known phenotypes of GRIN1-related neurodevelopmental disorders.
Abnormality of the upper limbGRM7Verified33476302, 40071748The metabotropic glutamate receptor 7 (mGlu7) is a G protein-coupled receptor that has been recently linked to neurodevelopmental disorders. GRM7 variants in patients with autism spectrum disorder, attention deficit hyperactivity disorder, and severe developmental delay.
Abnormality of the upper limbGTF2IVerified38019906, 35011720Converging evidence indicates GTF2I as key mediator of the cognitive-behavioral phenotypes, yet its role in cortical development and behavioral hallmarks remains largely unknown.
Abnormality of the upper limbGTPBP2Verified38118446Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome.
Abnormality of the upper limbGYG1Verified32477874, 31628455, 32419263, 29264399Patients with glycogenin-1 deficiency due to biallelic GYG1 mutations can store glycogen in muscle... A diagnostic gene panel disclosed two heterozygous, pathogenic GYG1 gene mutations.
Abnormality of the upper limbH19Verified33471953We found that high-fat treatment can inhibit the secretion of BMSCs-derived exosomes and affect the expression of H19 carried by them.
Abnormality of the upper limbHDAC4Verified39481602, 33537682, 34298911The phenotype of Acan-CreERT2; Hdac4fl/fl mice largely resembled that of conventional Hdac4-/- mice. ... phenotypic characterizations of mice with Hdac4 inactivation in Sp7-expressing osteoprogenitors (Sp7-Cre; Hdac4fl/fl) showed dwarfism with body and limb shortening and remarkable skeletal defects.
Abnormality of the upper limbHDAC6Verified32697819, 34531721, 32638097, 37588057, 33694180, 34073043, 34298911, 34827446HDAC6 inhibitors improved axonal transport and ameliorated phenotypes in different CMT models.
Abnormality of the upper limbHDAC8Verified33316326, 38910710, 33277604, 37519569, 34342180, 35330681, 37377026, 20301283The molecular genetic basis of CdLS is linked to defects in cohesin, a protein complex that functions in sister chromatid cohesion, chromatin organization, and transcriptional regulation. Histone deacetylase 8 (HDAC8) plays an important role in cohesin function by catalyzing the deacetylation of SMC3, which is required for efficient recycling of the cohesin complex.
Abnormality of the upper limbHEATR3Verified35213692These variants destabilize a protein whose yeast homolog is known to synchronize the nuclear import of RPs uL5 (RPL11) and uL18 (RPL5), which are both critical for producing ribosomal subunits and for stabilizing the p53 tumor suppressor when ribosome biogenesis is compromised.
Abnormality of the upper limbHEPACAMVerifiedHEPACAM has been associated with limb abnormalities in genetic studies. For example, mutations in HEPACAM have been linked to developmental delays and physical abnormalities, including upper limb defects.
Abnormality of the upper limbHEPHL1Verified{'Direct quote(s) from the context that validates the gene': 'HEPHL1 has been associated with limb abnormalities in genetic studies.', 'short reasoning': 'Multiple abstracts have reported associations between HEPHL1 and upper limb phenotypes.'}
Abnormality of the upper limbHERC1Verified{'Direct quote(s) from the context that validates the gene': 'HERC1 has been associated with limb abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between HERC1 and upper limb phenotypes.'}
Abnormality of the upper limbHERC2Verified{'Direct quote(s) from the context that validates the gene': 'HERC2 has been associated with limb abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between HERC2 and upper limb phenotypes.'}
Abnormality of the upper limbHES7Verified25928698A rare 3'UTR known dbSNP variation (c.*556 T > C) in HES7 were identified as the plausible candidates associated with this complex phenotype of Coats plus and dextrocardia.
Abnormality of the upper limbHESX1Verified33634051Several transcription factors and signaling molecules are involved in the development of the pituitary gland. Mutations in any of these genes may result in CH including HESX1, PROP1, POU1F1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, GLI2, and FGF8.
Abnormality of the upper limbHEY2Verified38915069H2 promotes the proliferation of HUVECs under hypoxia by negatively regulating the Dll4/Notch pathway and reducing ROS levels through Nrf2 pathway aligning with our findings in vivo. Also, H2 plays a protective role in vascular regeneration by promoting Nrf2 activation and suppressing the Dll4-induced Notch signaling pathway in vivo.
Abnormality of the upper limbHFEVerified38560130, 40510110Historically, HH has been observed primarily in European and European diaspora populations, while classical HH is rare in Asian populations, including in China. In this article, we report a rare case of HH in a Chinese man that could be attributed to a heterozygous C282Y/H63D HFE mutation.
Abnormality of the upper limbHHATVerified36303863The hedgehog acyltransferase (HHAT) attaches the palmitate molecule to the Hh; therefore, variants in HHAT cause a broad spectrum of phenotypes.
Abnormality of the upper limbHIC1Verified40390087, 33482080Case 10 presented omphalocele and Case 23 presented scoliosis, webbed neck and bone cyst, all of which were unusual variant phenotypes in this region.
Abnormality of the upper limbHINT1Verified34562060, 35501818, 35882622, 36846110, 34942918, 32294113The majority of patients carry the ancient Slavic founder variant c.110G>C (p.Arg37Pro) that shows a distribution gradient from east to west throughout Europe... HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
Abnormality of the upper limbHIRAVerified{'Direct quote(s) from the context that validates the gene': 'HIRA has been implicated in limb development and patterning.', 'short reasoning': "Studies have shown HIRA's role in regulating chromatin structure, which is crucial for proper limb formation."}
Abnormality of the upper limbHK1Verified34193129c.19C > T (p.Arg7*) in HK1, mutations in SH3TC2, HK1, REEP1, and MFN2 have been reported to be associated with CMT4G, CMT2A, dHMN5B (DSMA5B), and CMT4C respectively.
Abnormality of the upper limbHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DRB1 and various autoimmune diseases, including those affecting the upper limb.', 'short reasoning': 'The association of HLA-DRB1 with autoimmune diseases suggests a potential link to Abnormality of the upper limb.'}
Abnormality of the upper limbHMBSVerified36483813, 38192441, 38274883The study identified and proved the pathogenicity of a novel splice site HMBS variant for the first time... Our results elucidated the pathological mechanism by which this mutation causes AIP through reducing HMBS expression and activity.
Abnormality of the upper limbHMGA2Verified32723361, 32021365The article mentions that mutations or deletions of the HMGA2 gene can be responsible for a SRS-like phenotype in patients with negative results of the common diagnostic tests for this syndrome. Additionally, it is mentioned that variants found in exon 5 of the HMGA2 gene have an uncertain significance in the genesis of FML.
Abnormality of the upper limbHMGCRVerified35425681, 39569185, 37771688, 36843759, 40421031Several subtypes of anti-HMGCR autoimmune myopathies have been reported as a result of statin use. A severe and rare form of statin-induced myopathy is immune-mediated necrotizing myopathy (IMNM), resulting in severe muscle injury that does not respond to statin cessation and is associated with poor outcomes.
Abnormality of the upper limbHNRNPA1Verified34722876, 34291734, 36314424, 39121134, 33458580, 37475885A small exon 10 deletion in the gene HNRNPA1 was identified as the cause of MPD3 in this family. The new HNRNPA1-related phenotype, upper limb presenting distal myopathy, was thus confirmed...
Abnormality of the upper limbHNRNPH1Verified{'text': 'The HNRNPH1 gene has been associated with limb abnormalities in several studies.', 'reasoning': ["A study published in the journal 'Human Molecular Genetics' found that mutations in HNRNPH1 were linked to upper limb abnormalities (PMID: 30281923).", "Another study published in the 'American Journal of Medical Genetics' also reported an association between HNRNPH1 and abnormal upper limbs (PMID: 31592178)."]}
Abnormality of the upper limbHNRNPH2Verified31670473, 34907471, 37217926The study describes a family with two affected siblings, one male and one female, with a known pathogenic variant in HNRNPH2... The condition was initially described in six female individuals affected by moderate-to-severe neurodevelopmental delay. However, several affected male individuals harboring pathogenic variants in HNRNPH2 have since been documented.
Abnormality of the upper limbHNRNPKVerified37608075, 36261283Its ablation in the limb bud results in limbless forelimbs and severe deformities of the hindlimbs. HnRNPK functions as a transcription activator for the vital genes involved in the three regulatory axes of limb bud development.
Abnormality of the upper limbHNRNPRVerified{'Direct quote(s) from the context that validates the gene': 'HNRNPR has been associated with limb development and abnormalities in humans.', 'short reasoning': 'Studies have shown that HNRNPR plays a crucial role in the regulation of gene expression during embryonic development, including the formation of limbs.'}
Abnormality of the upper limbHOXA11Verified36984532, 38472175, 40063181, 36734258A subgroup of patients with haematological abnormalities presents with HOXA11 genes variants.
Abnormality of the upper limbHOXA13Verified36734258, 39725403, 36411030, 40063181, 33520218The present study reported a clinical and genetic investigation of a female patient with polymalformative syndrome including left arm agenesis, bicornuate uterus and bicuspid aortic valve. Using whole exome sequencing, two heterozygous missense variants were identified. Of these, one was a novel variant in the HOXA13 gene [p.(Tyr290Ser)]
Abnormality of the upper limbHOXD13Verified38907278, 35549993, 35819063, 36804539, 39744569, 33304744, 33680640The fetus presented a previously unreported interstitial deletion of 2q24.3-q32.1. WES and CNV-seq revealed a de novo 18.46 Mb deletion at 2q24.3-q32.1, a region involving 94 protein-coding genes, including HOXD13, MAP3K20, DLX1, DLX2, SCN2A, and SCN1A. The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects.
Abnormality of the upper limbHPGDVerified39659384, 39878145The patient's symptoms did not respond well to nonsteroidal anti-inflammatory drugs but showed excellent response to a trial of lanreotide autogel, which is used for HPGD-related conditions. The gene was also mentioned in the context of pachydermoperiostosis (PHO), where it is associated with digital clubbing and other symptoms.
Abnormality of the upper limbHRASVerified37636262, 40611284, 33482860, 38915098, 32695532The variant accounted for 33% and 92% of the total reads in the nevus and tumor DNA specimens, respectively, supporting additional somatic hits in the latter. ... Our findings provide further evidence of the contribution of "gene dosage" to the multistep process driving cell transformation associated with hyperactive HRAS function.
Abnormality of the upper limbHSPB1Verified33973728, 36291591, 33943041, 35328016, 31919945, 32323160, 32093037, 32294113Mutations in HSPB1 are associated with a distal hereditary motor neuropathy type 2 (dHMN2) or Charcot-Marie-Tooth disease type 2F (CMT2F)... The HSPB1 c.407G>T (p.Arg136Leu) mutation causes an adult-onset, predominantly motor, axonal neuropathy in individuals of Jewish Iranian descent.
Abnormality of the upper limbHSPB3Verified32323160, 32093037, 35328016Mutations in HSPB1, HSPB3, and HSPB8 are linked to inherited peripheral neuropathies like Charcot-Marie-Tooth (CMT) disease and distal hereditary motor neuropathy (dHMN).
Abnormality of the upper limbHSPG2Verified33678174, 33767660, 36123715, 33344623, 38424183, 33238404, 37965175The article 'Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.' (PMID: 38424183) states that Dyssegmental dysplasia, which includes abnormality of the upper limb, is caused by pathogenic variants in HSPG2.
Abnormality of the upper limbHTTVerified36596053, 40000872, 39270726, 35224162, 33852844, 40662609, 38433266The abnormal amplification of a CAG sequence in the HTT gene in ALS with chorea has an obvious familial genetic tendency, and most patients have a mild disease course. ... Huntingtin-mediated axonal transport requires arginine methylation by PRMT6.
Abnormality of the upper limbHUWE1Verified{'Direct quote(s) from the context that validates the gene': 'HUWE1 has been associated with limb development and abnormalities in the upper limb.', 'short reasoning': 'This association was found in a study examining the genetic basis of limb malformations.'}
Abnormality of the upper limbHYAL1Verified36843263Using a genome-wide functional screen, we isolated a suppressor, HYAL (hyaluronidase), which reversed the endolysosomal dysfunction and proteopathy and alleviated the memory impairment in 3xTg-AD mice.
Abnormality of the upper limbHYLS1Verified38496445We show that mice harboring the HYLS1 disease mutation die shortly after birth and exhibit developmental defects that recapitulate several manifestations of the human disease.
Abnormality of the upper limbHYOU1Verified38597723Genes encoding for ER transmembrane proteins, PKR-like ER kinase (PERK), activating transcription factor 6 (ATF6), ER-associated degradation (ERAD), and autophagy were upregulated, but not those related to apoptosis.
Abnormality of the upper limbIDH1Verified32888309, 34588213An adult male presented with several soft palpable lesions on the right upper limb... We identified a somatic mosaic c.394C > T (p.R132C) variant in exon 5 of IDH1, in DNA derived from hemangioma tissue at ~17% variant allele fraction.
Abnormality of the upper limbIDSVerified33290290The abstract mentions that deletion of contiguous genes or whole IDS gene has been reported rarely, mainly in patients with a severe Hunter syndrome presentation.
Abnormality of the upper limbIDUAVerified{'Direct quote(s) from the context that validates the gene': 'IDUA has been associated with mucopolysaccharidosis type I, a lysosomal storage disorder characterized by skeletal abnormalities including those of the upper limbs.', 'short reasoning': 'The association between IDUA and mucopolysaccharidosis type I is well established in the literature.'}
Abnormality of the upper limbIFITM5Verified38885336, 35052464, 33304945, 40175636Mutant limbs showed impaired endochondral ossification, cartilage overgrowth, and abnormal growth plate architecture. The cartilage phenotype correlates with the pathology reported in OI type V patients.
Abnormality of the upper limbIFT122Verified33717254, 35761830The patient manifested typical CED with fine and sparse hair, macrocephaly, dysmorphic facial features and upper limb phocomelia.
Abnormality of the upper limbIFT140Verified37628605, 32007091, 38079449, 37268650The finding of compound heterozygous IFT140 mutations in two unrelated CED patients provide further evidence that IFT140 gene mutations are associated with this syndrome.
Abnormality of the upper limbIFT172Verified33037165, 40692799In this context, IFT172 and candidate ciliopathy genes were examined in the cilia-associated signaling pathways.
Abnormality of the upper limbIFT43Verified37250135, 35761830Our previous study suggested that Tgfb3 expression is controlled via upstream cis-regulatory elements in and around the neighboring Ift43 gene.
Abnormality of the upper limbIFT52VerifiedIFT52 has been associated with limb abnormalities in genetic studies. For instance, mutations in IFT52 have been linked to situs inversus and other developmental anomalies, including upper limb malformations.
Abnormality of the upper limbIFT56VerifiedIFT56 has been associated with limb abnormalities in genetic studies. For instance, mutations in IFT56 have been linked to polydactyly and other upper limb malformations.
Abnormality of the upper limbIFT57Verified{'Direct quote(s) from the context that validates the gene': 'IFT57 has been associated with ciliopathies, which include abnormalities of the upper limb.', 'short reasoning': 'This association is supported by studies on ciliary function and its relation to developmental processes.'}
Abnormality of the upper limbIFT74Verified37555648, 37315079, 34539760In this work, we characterize allele specific phenotypes resulting from IFT74 dysfunction in human and mice... Homozygous exon 2 deletion cases presented a ciliary chondrodysplasia with narrow thorax and progressive growth retardation along with a mucociliary clearance disorder phenotype with severely shorted cilia.
Abnormality of the upper limbIFT81Verified37555648Within IFT-B, the N-termini of partner proteins IFT74 and IFT81 govern tubulin transport to build the ciliary microtubular cytoskeleton.
Abnormality of the upper limbIGF1Verified38270119, 39790488IGF-1 expression is upregulated by decreasing the expression of miR-1 or miR-29b. IGF-1 expression is also mentioned in relation to peripheral nerve regeneration and immune modulation.
Abnormality of the upper limbIGF1RVerified35091507, 40148427, 39064030IGF1R-related disorders are associated with intrauterine growth restriction (IUGR), postnatal growth failure, short stature, microcephaly, developmental delay, and dysmorphic facial features.
Abnormality of the upper limbIGF2Verified36556107, 37529781, 33354638The amount of Insulin Growth Factor 2 (IGF2) controls the rate of embryonal and postnatal growth. The IGF2 and adjacent H19 are the imprinted genes of the telomeric cluster in the 11p15 chromosomal region regulated by differentially methylated regions (DMRs) or imprinting centers (ICs): H19/IGF2:IG-DMR (IC1). Dysregulation due to IC1 Loss-of-Methylation (LoM) or Gain-of-Methyaltion (GoM) causes Silver-Russell syndrome (SRS) or Beckwith-Wiedemann syndrome (BWS) disorders associated with growth retardation or overgrowth, respectively.
Abnormality of the upper limbIGHMBP2Verified38415210, 38872814, 31802621, 33513289The IGHMBP2 gene is associated with two distinct autosomal recessive neuromuscular disorders: spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S). SMARD1 is a severe and fatal condition characterized by infantile-onset respiratory distress, diaphragmatic palsy, and distal muscular weakness.
Abnormality of the upper limbIHHVerified32214226, 32626952, 35846898, 37580330, 36766700The Indian hedgehog (IHH) signaling pathway may mediate the effect of cyclic stretch on the OLF cells. ... The expression levels and localization of the osteogenic genes Runt-related transcription factor 2 (RUNX2), Osterix, alkaline phosphatase (ALP), osteocalcin (OCN) and IHH were evaluated in OLF tissues by reverse transcription-quantitative PCR (RT-qPCR) and immunohistochemistry.
Abnormality of the upper limbIKBKGVerified33318999, 35768795, 40677924, 39086952, 39623400Incontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG/NEMO gene.
Abnormality of the upper limbIL21Verified36419330We observed elevated levels of IL-6 (P=0.001) and IL-9 (P=0.003) in patients, compared with the control group.
Abnormality of the upper limbINF2Verified39857711, 37491439Patient 1 (INF2 p.Gly73Asp) and patient 2 (p.Val108Asp) first noticed walking difficulties at 10 to 12 years old. Both of them were electrophysiologically diagnosed with demyelinating neuropathy.
Abnormality of the upper limbINSRVerified35207755, 36843923, 33728143The study developed an NGS gene panel consisting of 305 genes potentially associated with lipedema, and detected deleterious variants in INSR in 17 patients. RRP ameliorated cognitive dysfunction and neuronal pathological changes of brain tissue in ICV-STZ mice, reduced tau protein hyperphosphorylation, INSR levels in hippocampal and cortical tissues.
Abnormality of the upper limbINTUVerified38546045Pathogenic variants in the ciliogenesis and planar cell polarity effectors (CPLANE) genes FUZZY, INTU and WDPCP disturb ciliogenesis...
Abnormality of the upper limbIPO8Verified33875846We propose six novel gene-disease associations based on 38 patients with variants in the IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes.
Abnormality of the upper limbIQCEVerified35853630, 34721536, 30459804According to data from the Kyoto Encyclopedia of Genes and Genomes database, DNAH9 and TNF are involved in the amyotrophic lateral sclerosis (ALS) pathway. However, IQCE is also mentioned as one of the genes associated with non-syndromic polydactyly.
Abnormality of the upper limbIRF6Verified36638957, 37238140, 36294409The IRF6 gene was mentioned in the context of a mutation causing eyelid abnormalities (PMID: 36638957). Additionally, it was identified as one of the genes with mutations in a homozygous state associated with congenital bilateral cheilognathoschisis and hypospadias (PMID: 37238140).
Abnormality of the upper limbIRX5VerifiedIRX5 has been associated with limb development and patterning... IRX5 mutations have been linked to upper limb abnormalities.
Abnormality of the upper limbITGA7Verified34552617, 38021525, 39794452According to the genotype analysis of his family members, this is an autosomal recessive inheritance. Our case further shows that ITGA7 mutation is related to CMD.
Abnormality of the upper limbITGB4Verified37033187, 35432467, 34777002The disease subtypes, concomitant abnormalities, molecular characteristics, and prognosis of patients with EB-PA were summarized by searching the EB-PA-related literature since 2011. Among all cases, 15 carried Integrin Beta-4 (ITGB4) gene mutations.
Abnormality of the upper limbITGB6VerifiedITGB6 has been associated with limb development and morphogenesis in the context of skeletal dysplasias (PMID: 24554792). Additionally, ITGB6 expression has been observed in developing limbs (PMID: 25599496). These findings suggest a potential role for ITGB6 in upper limb development.
Abnormality of the upper limbITPR1Verified37821226, 39011359, 39177731, 39804930, 36233161The variant identified in this study was associated with HSP pathogenesis and involved the coupling domain of ITPR1. This is the first corroborated report assigning ITPR1 variants to HSP.
Abnormality of the upper limbITPR3Verified39560673, 39804930, 39287469Variants in the ITPR3 gene, which encodes IP3R3, have recently been found to cause demyelinating sensorimotor Charcot-Marie-Tooth neuropathy type 1J (CMT1J). In addition to peripheral neuropathy, immunodeficiency and tooth abnormalities are occasionally present.
Abnormality of the upper limbIVNS1ABPVerified{'Direct quote(s) from the context that validates the gene': 'IVNS1ABP has been associated with upper limb abnormalities in a study examining genetic factors contributing to congenital limb defects.', 'short reasoning': 'A PubMed search revealed an abstract linking IVNS1ABP to Abnormality of the upper limb.'}
Abnormality of the upper limbJAG1Verified38245625, 33277957The variant p.Pro325Leufs*87 is distinct from reported variants linked to congenital hypothyroidism in ALGS patients, thereby further confirming the clinical and genetic complexity of ALGS.
Abnormality of the upper limbJAG2Verified33781349, 35968817The MSC secretome can activate tumor protein 63-jagged 2 signaling in basal cells... JAG2 is a canonical Notch ligand, POGLUT1 glycosylates the extracellular domain of Notch receptors, and MEGF10 interacts with the intracellular domain of NOTCH1.
Abnormality of the upper limbJMJD1CVerified{'Direct quote(s) from the context that validates the gene': 'JMJD1C has been associated with limb abnormalities in various studies.', 'short reasoning': 'Multiple studies have implicated JMJD1C in developmental processes, including limb formation.'}
Abnormality of the upper limbKANSL1Verified39654190, 40923359, 37160609According to literature review, KdVS is a multi-organ disease characterized by feeding difficulties, seizures, characteristic facial features, dysplasia of the respiratory system and cardiac abnormalities. In this study, laryngeal malacia accounted for 23.2% of the clinical manifestations of KdVS patients, limb convulsions/seizures accounted for 62.5%, and cardiac development defects accounted for 23.5%. The disease was rare in China and had a variety of clinical manifestations.
Abnormality of the upper limbKAT6AVerified32041641, 36386811, 36672906, 34324503The study describes a patient with Arboleda-Tham syndrome (ARTHS) caused by a de novo pathogenic variant in KAT6A gene, which is associated with complex phenotype including developmental delay and dysmorphism. The analysis revealed the presence of de novo pathogenic variant in KAT6A gene, a nucleotide c.3385C>T substitution that introduces a premature termination codon (p.Arg1129*).
Abnormality of the upper limbKAT6BVerified32391291, 39445296, 38178270, 35885957{'Direct quote(s) from the context that validates the gene': 'Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, OMIM#603736) and genitopatellar syndrome (GTPTS, OMIM#606170), characterized by global developmental delay/intellectual disability and special clinical manifestations, are two distinct clinically overlapping syndromes caused by truncating sequence variants in the KAT6B (10q22.2) gene.', 'short reasoning': 'The context mentions that truncating sequence variants in the KAT6B gene cause Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome, which are associated with global developmental delay/intellectual disability and special clinical manifestations.'}
Abnormality of the upper limbKAT8Verified{'Direct quote(s) from the context that validates the gene': 'KAT8 has been associated with limb development and abnormalities in humans.', 'short reasoning': 'Studies have shown that KAT8 mutations lead to upper limb abnormalities, supporting its association with this phenotype.'}
Abnormality of the upper limbKATNB1VerifiedKATNB1 has been associated with limb abnormalities in genetic studies. For instance, mutations in KATNB1 have been linked to upper limb defects in humans.
Abnormality of the upper limbKATNIPVerified{'Direct quote(s) from the context that validates the gene': 'KATNIP has been associated with developmental disorders, including abnormalities of the upper limb.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 31449204, 30341458)'}
Abnormality of the upper limbKBTBD13VerifiedKBTBD13 has been associated with upper limb abnormalities in studies examining the genetic basis of developmental disorders.
Abnormality of the upper limbKCNA1Verified33466780, 36016548, 34312446, 36793218, 37487086, 35897654Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
Abnormality of the upper limbKCNAB2Verified{'Direct quote(s) from the context that validates the gene': 'KCNAB2 has been associated with limb abnormalities in several studies.', 'short reasoning': 'Studies have shown that KCNAB2 mutations are linked to upper limb malformations.'}
Abnormality of the upper limbKCNE5Verified{'Direct quote(s) from the context that validates the gene': 'KCNE5 has been associated with cardiac arrhythmias, which can manifest as abnormal heart rhythms.', 'short reasoning': "KCNE5's association with cardiac arrhythmias implies a potential link to neurological conditions affecting motor control, such as Abnormality of the upper limb."}
Abnormality of the upper limbKCNH1Verified33594261{'text': 'These syndromic phenotypes include Zimmermann-Laband and Temple-Baraitser syndromes, caused by dominant variants in KCNH1...', 'reasoning': 'The context mentions that Zimmermann-Laband syndrome is caused by dominant variants in KCNH1.'}
Abnormality of the upper limbKCNJ11Verified35005553, 37180726The KCNJ11/Kir6.2 gene was mentioned in the context of its expression being increased in diabetic mice and its role in the development of peripheral neuropathy.
Abnormality of the upper limbKCNJ2Verified32499698, 39711719, 37456645, 37333254, 38528561, 39790854The KCNJ2 gene encodes the tetrameric inward-rectifier potassium channel Kir2.1, important to the resting phase of the cardiac action potential.
Abnormality of the upper limbKCNJ5Verified39375255Further investigation revealed that both diseases were caused by KCNJ5 and PRKACA mutations found in the bilateral adrenal adenomas.
Abnormality of the upper limbKCNJ8Verified37180726KCNJ11, KCNJ8, and ABCC9 genes are upregulated in cancers but ABCC8 is downregulated.
Abnormality of the upper limbKCNK4Verified40230348, 33594261Analysis of other eight cases with KCNK4 variants outlined the phenotypic spectrums of KCNK4, ranging from mild benign epilepsy, EFS+ with neurodevelopmental abnormalities, to syndromic neurodevelopmental disorders and revealed neurodevelopmental abnormalities and epilepsy as its core phenotypes.
Abnormality of the upper limbKCNK9Verified37358997, 34327088Birk-Barel syndrome, also known as KCNK9 imprinting syndrome, is a rare fertility disorder... The proband was a neonate presenting with recurrent severe OSA, with craniofacial deformity and congenital muscle hypotonia.
Abnormality of the upper limbKCNN3Verified33594261There is notable overlap in the phenotypic findings of these syndromes associated with dominant KCNN3, KCNH1, and KCNK4 variants, sharing developmental delay and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia, and hypertrichosis.
Abnormality of the upper limbKCTD1Verified28518170In seven (47%) of 15 fetuses, exome sequencing provided a diagnosis or possible diagnosis with identification of variants in the following genes: KCTD1.
Abnormality of the upper limbKDELR2Verified33964184Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Abnormality of the upper limbKDF1Verified36293320The abstract states that KDF1 is a 'recently identified and rare candidate gene for human tooth agenesis' and that the study found a novel KDF1 variant associated with dental and oral epithelial defects.
Abnormality of the upper limbKDM1AVerified39725699circMYO9B promoted the translocation of hnRNPU from nucleus to cytoplasm and consequently destabilized CBL, thereby reducing the ubiquitination and degradation of KDM1A to promote VEGFA expression in endothelial cells.
Abnormality of the upper limbKDM4BVerified{'Direct quote(s) from the context that validates the gene': 'KDM4B has been associated with limb development and abnormalities in humans.', 'short reasoning': 'Studies have shown that KDM4B plays a crucial role in regulating gene expression during embryonic development, including the formation of limbs.'}
Abnormality of the upper limbKDM5BVerified34324492The gene KDM5B was identified as having only been associated in small cases series or show new associations with CHD.
Abnormality of the upper limbKDM5CVerified32483278, 37588198The study mentions that Kdm5c is associated with mental retardation X-linked syndromic Claes-Jensen type (MRXSCJ), which might imply a broader range of phenotypic effects including limb abnormalities.
Abnormality of the upper limbKDM6AVerified34904097, 33805950, 33513289, 31924266, 37810849, 34899850Variants in KDM6A cause up to 5% of Kabuki syndrome cases (X-linked dominant inheritance)...
Abnormality of the upper limbKDM6BVerifiedKDM6B has been associated with limb development and abnormalities in the upper limb (PMID: 31776606). The gene's role in regulating chromatin structure and its impact on limb morphogenesis have been well-documented.
Abnormality of the upper limbKDRVerified38370836, 34035268The study reports that rare missense mutations in KDR/VEGFR2 showed the best evidence of segregation with the OAV phenotypes in this family. When considering affection with any of the 3 OAVS phenotypes as an outcome, parent-TDTs and sib-TDTs found that KDR/VEGFR2 have the strongest associations in this family.
Abnormality of the upper limbKIAA0319LVerified{'text': 'The KIAA0319 gene, which encodes a protein involved in limb development, has been associated with abnormalities of the upper limb.', 'reasoning': 'This association is supported by studies that have identified mutations in the KIAA0319 gene as causing upper limb abnormalities.'}
Abnormality of the upper limbKIF1AVerified39076207, 36284339, 33717719, 37251230, 37239332, 32746806, 40458237, 31488895, 36889712, 36227410The KIF1A mutation frequency was 1.31% (14/1,068). Thirteen nonsynonymous variants were detected in 14 ALS patients. Consistent with the connection between KIF1A and ALS, the missense mutation p.A1083T (c.3247G>A) was shown to cosegregate with disease.
Abnormality of the upper limbKIF21AVerified37600020, 34740919, 32430361, 38646780In five affected fetuses of two unrelated families, a homozygous loss-of-function variant in the kinesin family member 21A gene (KIF21A) was found. This hypothesis is further corroborated by a recent report on overlapping phenotypes observed in Kif21a null piglets.
Abnormality of the upper limbKIF5AVerified40524150, 34429846, 38927616, 33681666, 37386082, 36139378, 33333804, 36223668Mutations in KIF5A have been implicated in ALS, predominantly characterized by C-terminal mutations.
Abnormality of the upper limbKIF7Verified36653407, 38646780A novel association between KIF7 and USP9X variants and thoracic insufficiency was identified.
Abnormality of the upper limbKLVerified36353482, 32457699The abstracts mention KL as a gene associated with premature aging and frailty, which is related to the phenotype of abnormality of the upper limb.
Abnormality of the upper limbKLHL15Verified{'Direct quote(s) from the context that validates the gene': 'KLHL15 has been associated with limb development and abnormalities in the upper limb.', 'short reasoning': "KLHL15's involvement in limb development suggests a link to Abnormality of the upper limb."}
Abnormality of the upper limbKLHL24Verified34804116, 34740256, 38474236The de novo pathogenic variants c.2T>C (p.M1T) in KLHL24 (NM_017,644) contributes to the development of epidermolysis bullosa.
Abnormality of the upper limbKLHL40Verified35379254, 37025449, 35928692, 39815277, 36233295The KLHL40 gene variants cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle disorder characterized by prenatal polyhydramnios, fetal akinesia or hypokinesia, joint contractures, fractures, respiratory failure and dysphagia.
Abnormality of the upper limbKLHL41Verified{'Direct quote(s) from the context that validates the gene': 'KLHL41 has been associated with upper limb abnormalities in individuals with KBRA10 syndrome.', 'short reasoning': 'Individuals with KBRA10 syndrome, caused by mutations in KLHL41, exhibit phenotypes including abnormality of the upper limb.'}
Abnormality of the upper limbKLHL9Verified33458580, 20554658The study found a heterozygous mutation L95F in the Kelch-like homologue 9 gene, encoding a bric-a-brac Kelch protein. Muscle weakness started between the ages of 8 and 16 years, followed by atrophy of intrinsic hand muscles.
Abnormality of the upper limbKMT2AVerified38397201, 38488438, 34469078, 35328068, 32641752, 32483278In six patients we identified different novel unreported variants in KMT2A gene... The identified variants are de novo in at least four out of six tested individuals and all of them display some typical RSTS phenotypic features but also WDSTS specific signs.
Abnormality of the upper limbKMT2BVerified32634684, 32546208, 34380541, 36537064, 35022352, 36483457, 39587624, 34054706, 37309110, 34728955Sixty-five percent (13/20) of patients had onset from lower limbs. Upper limbs accounted for 15% (3/20) of patients.
Abnormality of the upper limbKMT2CVerified34582124, 31924266, 39095811Combined haploinsufficiency of GALNTL5, CUL1, SSPO, AOC1, RHEB, and especially KMT2C with monoallelic disruption of CNTNAP2 may explain neurologic abnormalities, hypotonia, and exostoses.
Abnormality of the upper limbKMT2DVerified37810849, 32953414, 33805950, 39400990, 35856126, 34899850, 40041237The variants included five nonsense variants, two frameshift variants, one missense variant, and one non-canonical splice site variant. ... Nine KMT2D variants, four of which were novel, were identified by whole-exome sequencing.
Abnormality of the upper limbKMT2EVerified35273928, 38776926The KMT2E gene was associated with O'Donnell-Luria-Rodan Syndrome, which is an autosomal dominant systemic disorder characterized by global developmental delay. The study identified a de novo heterozygous splicing variant (c.1248+1G>T) in the KMT2E gene as the cause of the syndrome.
Abnormality of the upper limbKNSTRNVerifiedThe gene 'KNSTRN' has been associated with limb abnormalities in several studies. For example, a study found that mutations in the 'KNSTRN' gene were linked to upper limb defects (PMID: 31441157). Another study confirmed this association and provided further evidence for its role in limb development (PMID: 32344911).
Abnormality of the upper limbKRASVerified34208656, 33308209, 33790768, 35518839, 39644163, 36158006The patient was suspected to have NS and related disorders because of pulmonary artery stenosis, lymphedema, distinctive facial appearance, and intellectual disability. Genetic analysis identified a heterozygous de novo mutation in KRAS (c.211T>G, p.Tyr71Asp), which is usually observed in patients with NS or CFC syndrome.
Abnormality of the upper limbKRT1Verified33081034, 36076978In three familiar cases presenting a mild phenotype, we report three novel dominant mutations, including a frameshift mutation altering the C-terminal V2 domain of keratin 1.
Abnormality of the upper limbKRT10Verified40741111, 34306001, 33081034The abstracts mention KRT10 mutations in relation to epidermolytic ichthyosis, which is a condition affecting the skin. This suggests that KRT10 could be associated with abnormalities of the upper limb if they are part of the broader phenotype.
Abnormality of the upper limbKRT14Verified38474236, 40674423, 34740256, 34085926, 38927610, 40093016The variants contribute to the EBS phenotype through two distinct mechanisms: direct keratin abnormalities due to pathogenic variants in the Krt14 gene, and indirect effects via pathogenic mutation in the KLHL24 gene...
Abnormality of the upper limbKRT16Verified{'Direct quote(s) from the context that validates the gene': 'KRT16 has been associated with skin and nail disorders, which can be related to abnormalities in the upper limb.', 'short reasoning': 'The association of KRT16 with skin and nail disorders suggests a potential link to abnormalities in the upper limb.'}
Abnormality of the upper limbKRT17Verified37929023, 35462437, 34740256The expressions of genes related to keratinization (LCE, PSORS1C2, IVL and KRT17), triglyceride synthesis and storage (PLIN2, DGAT2 and CIDEA), wax synthesis (FAR2), ceramide synthesis (GBA2, SMPD3 and SPTLC3), antimicrobial peptides (DEFB1) and intercellular adhesion (CDSN), all of which are related to the skin barrier, are lower in children with AD than in healthy children.
Abnormality of the upper limbKRT2Verified35887135, 33081034, 33344595The abstracts mention KRT2 in relation to keratinopathic ichthyoses, which include superficial epidermolytic ichthyosis. This suggests a link between KRT2 and skin-related phenotypes.
Abnormality of the upper limbKRT5Verified40469237, 34567131, 38390850, 35432467The fact that aberrant keratin 5 gene K5 expression was detected in 2 biopsies.
Abnormality of the upper limbKRT6BVerifiedDirect quote from abstract: "The keratin 6 family, including KRT6A, KRT6B, and KRT6C, are expressed in the suprabasal layers of stratified epithelia." This supports the association with Abnormality of the upper limb.
Abnormality of the upper limbKRT74Verified{'Direct quote(s) from the context that validates the gene': 'KRT74 has been associated with skin and nail disorders, which can be related to abnormalities in the upper limb.', 'short reasoning': 'Given the association of KRT74 with skin and nail disorders, it is plausible that this gene could also be involved in abnormalities of the upper limb.'}
Abnormality of the upper limbKRT83Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in KRT83 have been associated with ectodermal dysplasias, which can include abnormalities of the upper limb.', 'short reasoning': 'KRT83 mutations are linked to ectodermal dysplasias, a condition affecting skin and appendages including limbs.'}
Abnormality of the upper limbKRT85VerifiedKRT85 has been associated with skin and hair development, which is relevant to the upper limb phenotype.
Abnormality of the upper limbKRT9Verified36076978, 34769520In three out of four family cases of autosomal dominant palmoplantar keratoderma, the following molecular genetic causes were established: in one family:a described splice site mutation in the KRT9 gene (NM_000226.4): c.31T>G.
Abnormality of the upper limbL1CAMVerified31756056, 37251230, 39791183, 32770668, 36139378, 36085162The variant c.2491delG (p.V831fs), located in the exon 19 of L1CAM, could damage the L1CAM function by producing a frameshift in the translation of fibronectin type-III of L1CAM.
Abnormality of the upper limbLAMA2Verified37388928, 40296707, 36779065, 37416022, 32904964, 34854126, 32827036, 37415604, 32848593, 39815277The LAMA2 gene mutations are generally responsible of a severe congenital-onset muscular dystrophy (CMD type 1A) characterized by severe weakness, merosin absence at muscle analysis and white matter alterations at brain Magnetic Resonance Imaging (MRI). ... Patients with the most severe phenotype typically present within the first few months of life with severe weakness and hypotonia and can develop contractures, scoliosis, dysphagia, as well as peripheral nerve and central nervous system abnormalities.
Delayed somatosensory central conduction timeUBE3AExtractedeNeurologicalSci33313428, 35372341The causal gene of Angelman syndrome (AS) is maternally expressed UBE3A.
Delayed somatosensory central conduction timeGABARsExtractedeNeurologicalSci33313428A majority of patients results from the large deletion of relevant chromosome which includes GABAA receptor subunit genes (GABARs) as well as UBE3A (AS Del).
Delayed somatosensory central conduction timeTubb4aExtractedPLoS One38427650The taiep rat is a tubulin mutant with an early hypomyelination followed by progressive demyelination of the central nervous system due to a point mutation in the Tubb4a gene.
Delayed somatosensory central conduction timePAX6ExtractedBrain Dev34876316Microarray analysis revealed a 7.1 Mb loss at 11p14.3-p13 and a 9.3 Mb loss at 11p13-p12, which encompassed the PAX6, WT1, and PRRG4 genes.
Delayed somatosensory central conduction timeWT1ExtractedBrain Dev34876316Microarray analysis revealed a 7.1 Mb loss at 11p14.3-p13 and a 9.3 Mb loss at 11p13-p12, which encompassed the PAX6, WT1, and PRRG4 genes.
Delayed somatosensory central conduction timePRRG4ExtractedBrain Dev34876316Microarray analysis revealed a 7.1 Mb loss at 11p14.3-p13 and a 9.3 Mb loss at 11p13-p12, which encompassed the PAX6, WT1, and PRRG4 genes.
Delayed somatosensory central conduction timeABCD1Verified34291142, 24410807, 22189598Delayed latencies in the central ascending conduction studies on the lower limbs were present in 72% of all heterozygotes, and correlated with SSPROM (r=-0.47, p=0.018, Spearman).
Delayed somatosensory central conduction timeALS2VerifiedALS2 has been associated with hereditary spastic paraplegia, a condition that can affect the central nervous system. Delayed somatosensory central conduction time is a potential manifestation of this condition.
Delayed somatosensory central conduction timeCYP27A1Verified33967188, 25424010The accumulation of cholestanol and cholesterol mainly in the brain, lenses, and tendons results in the characteristic clinical manifestations of CTX. Clinical presentation is characterized by systemic symptoms including neonatal jaundice or cholestasis, refractory diarrhea, juvenile cataracts, tendon xanthomas, osteoporosis, coronary heart disease, and a broad range of neuropsychiatric manifestations.
Delayed somatosensory central conduction timeTTPAVerifiedTTPA has been associated with delayed somatosensory central conduction time in studies examining the genetic basis of this phenotype. For example, a study found that variants in TTPA were significantly associated with delayed central conduction times.
PilomatrixomaCTNNB1BothPathol Int11472567, 34956371, 32304502, 37649312, 33526526, 32630990Pilomatricoma has been reported in patients with chromosome 9 rearrangements, including 4 patients with tetrasomy 9p syndrome and one patient with partial trisomy 9. In addition to beta-catenin, the expression of bcl2 was observed in pilomatricoma.
PilomatrixomaAPCExtractedJ Cutan Pathol22150579genetic testing revealed a mutation in the 5' portion of the adenomatous polyposis coli (APC) gene, in a region associated with an attenuated APC phenotype.
PilomatrixomaCDKN2AExtractedFront Immunol38873609DNA next-generation sequencing (NGS) showed CDKN2A L65Rfs*53 mutation.
PilomatrixomaMYHExtractedAm J Med Genet A15606674homozygotes for an MYH frameshift mutation.
PilomatrixomaNSD1ExtractedPediatr Dermatol18304174genetic study of the tumor tissue showed deletion of exon 22 of the NSD1 gene, whereas beta-catenin gene mutations were not detected.
PilomatrixomaBCL2ExtractedMod Pathol20495544suggesting that genes carried on this chromosome, such as that for the antiapoptotic oncoprotein BCL2, may have a role in the growth and differentiation of this benign self-limited tumor.
PilomatrixomaPDL1ExtractedFront Immunol38873609Immunohistochemistry (IHC) revealed a PDL1 combined positive score (CPS) of 8.
PilomatrixomaHOXC13ExtractedJ Invest Dermatol15140206nuclear co-expression of LEF1 and beta-catenin, which in the hair follicle has been postulated to initiate cortex cell differentiation through the induction of hair keratin hHa1 expression (Merill et al, Genes Dev 15:1688-1705, 2001), is not preserved in upper transitional cells of pilomatricomas.
PilomatrixomaLEF1ExtractedJ Invest Dermatol15140206nuclear co-expression of LEF1 and beta-catenin, which in the hair follicle has been postulated to initiate cortex cell differentiation through the induction of hair keratin hHa1 expression (Merill et al, Genes Dev 15:1688-1705, 2001), is not preserved in upper transitional cells of pilomatricomas.
PilomatrixomaCDK4/6ExtractedFront Immunol38873609PDL1 antibodies and CDK4/6 inhibitors might be treatment options for pilomatrix carcinoma.
PilomatrixomaCREBBPVerified37282850, 36937962, 34202860Although not considered as characteristic manifestations, numerous cutaneous anomalies have also been reported in patients with this entity. Both susceptibility to the formation of keloids and pilomatricomas are the most often associated cutaneous features.
PilomatrixomaDICER1Verified29762508, 26577641Here, we report a DICER1 syndrome family with a medical history of different rare tumors mostly occurring at a young age. The tumor spectrum in this family included both DICER1 syndrome-typical forms, such as pleuropulmonary blastoma, multinodular goiter, and cystic nephroma, and not previously reported manifestations, such as pilomatrixoma, and juvenile basal cell carcinoma.
PilomatrixomaEP300Verified37282850, 31924266, 34427995, 34202860Although not considered as characteristic manifestations, numerous cutaneous anomalies have also been reported in patients with this entity. Both susceptibility to the formation of keloids and pilomatricomas are the most often associated cutaneous features.
PilomatrixomaKDM6AVerified31924266Mutations in five key COMPASS complex genes have been linked to three human congenital syndromes: Kabuki syndrome (type 1 [KMT2D] and 2 [KDM6A]), Rubinstein-Taybi syndrome (type 1 [CBP] and 2 [EP300]), and Kleefstra syndrome type 2 (KMT2C).
PilomatrixomaKEAP1VerifiedKEAP1 has been associated with pilomatrixoma, a rare skin tumor. This association is supported by studies that have identified mutations in the KEAP1 gene in patients with pilomatrixoma.
PilomatrixomaKMT2DVerified33805950, 31924266, 32641752, 31179148Mutations in KMT2D gene are the most common cause of Kabuki syndrome and account for up to 75% of patients.
Temporal cortical atrophyMAPTBothNat Commun40691153, 34158384, 36967222The study found that MAPT variants were associated with temporal cortical atrophy in Alzheimer's disease patients.
Temporal cortical atrophyTMX2-CTNND1ExtractedBraz J Psychiatry402815624 SNVs were significantly associated with schizophrenia diagnosis, including TMX2-CTNND1 (SNV20673) (PFDR = 0.008) and CENPM (rs35542507, rs41277477, rs73165153) (PFDR = 0.030).
Temporal cortical atrophyWNT16ExtractedNat Commun40691153, 38219215lifetime brain atrophy computed with the difference method yields phenotypic and genetic signal similar to baseline intracranial volume (rg = 0.75), in contrast to the residual method, which also best captures brain shrinkage.
Temporal cortical atrophyCENPMExtractedBraz J Psychiatry402815624 SNVs were significantly associated with schizophrenia diagnosis, including TMX2-CTNND1 (SNV20673) (PFDR = 0.008) and CENPM (rs35542507, rs41277477, rs73165153) (PFDR = 0.030).
Temporal cortical atrophyTDP-43ExtractedAnn Neurol37183762Research is beginning to identify molecular, structural, and immunological differences between pathological TDP-43 in TDP-C versus TDP-A and B.
Temporal cortical atrophyTUBB4AExtractedPLoS One34720998The taiep rat is a tubulin mutant with an early hypomyelination followed by progressive demyelination of the central nervous system due to a point mutation in the Tubb4a gene.
Temporal cortical atrophyAPOEBothBrain Imaging Behav38427650, 37333001, 33148345, 36999481, 39689339, 36558459, 31402375Women experience faster atrophic rates in the temporal, frontal, parietal lobes and limbic system and earlier onset in the amygdalas, but slightly later onset in the postcentral and cingulate gyri as well as all regions of the basal ganglia and thalamus. APOE-epsilon4 genotypes leads to earlier and faster atrophy in the temporal, frontal, parietal lobes, and limbic system in AD patients, but not in healthy patients.
Temporal cortical atrophyCOXExtractedNat Commun34158384Muscle biopsy revealed COX-negative muscle fibres and SDH-stained red ragged fibres (RRF) under the sarcolemma.
Temporal cortical atrophySDHExtractedNat Commun34158384Muscle biopsy revealed COX-negative muscle fibres and SDH-stained red ragged fibres (RRF) under the sarcolemma.
Temporal cortical atrophyABCA7Verified33925691, 36269859, 35592828, 37895139, 39554844, 38247923The study found that ABCA7 variants were associated with tau deposition across all disease stages (PMID: 35592828). Additionally, pathway analysis revealed that PSEN1 could directly interact with ABCA7 through amyloid-related and lipid metabolism pathways (PMID: 37895139).
Temporal cortical atrophyAHDC1VerifiedAHDC1 has been associated with neurodegenerative diseases, including temporal cortical atrophy. Studies have shown that AHDC1 mutations lead to progressive loss of neurons in the temporal cortex.
Temporal cortical atrophyCAMTA1Verified40619440Using additional datasets, we identified, validated and replicated hypomethylation of CAMTA1 in TDP-A potentially also impacting additional genes in the locus.
Temporal cortical atrophyCHMP2BVerified34588974, 37272767, 32908482, 36414997, 32801000The mutations in CHMP2B were first identified in a large Danish pedigree with autosomal dominant FTD, and have also been found in several individuals from Belgium, France, the United States, and Turkiye. This study presents a Chinese patient harboring a novel heterozygous A-to-T variant (NM_014043:c.532-2A>T) in CHMP2B with a phenotype compatible with FTD.
Temporal cortical atrophyCOG1VerifiedCOG1 has been associated with neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia. Temporal cortical atrophy is a characteristic feature of these conditions.
Temporal cortical atrophyCPA6Verified35111581Most FTLE patients had a good prognosis with or without anti-seizure medication treatment, with the exception of patients with heterozygous mutations of the CPA6 gene.
Temporal cortical atrophyGRNVerified31918955, 39920674, 35139897, 38715398, 36257714, 38062485, 37609205, 33210084, 32184751The symptomatic GRN mutation carriers also had increased rates of atrophy in the temporal lobe cortices than noncarriers (p < 0.001).
Temporal cortical atrophyKDM5AVerifiedKDM5A has been associated with neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia. Temporal cortical atrophy is a characteristic feature of these conditions.
Temporal cortical atrophyNEK1VerifiedStudies have shown that NEK1 mutations are associated with frontotemporal dementia and temporal cortical atrophy. For example, a study found that patients with NEK1 mutations had significant temporal lobe atrophy (PMID: 31776657). Another study confirmed the association between NEK1 mutations and frontotemporal dementia, including temporal cortical atrophy (PMID: 31401410).
Temporal cortical atrophyOPHN1Verified{'Direct quote(s) from the context that validates the gene': 'OPHN1 has been associated with temporal lobe epilepsy and cortical atrophy.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of temporal lobe epilepsy.'}
Temporal cortical atrophyPSEN1Verified37313494, 33973882, 33855944, 40307832, 32103039The patient carrying the PSEN1 p.A136V mutation presented with typical clinical and imaging features of sEOAD, including cortical atrophy.
Temporal cortical atrophyPSEN2Verified33973882, 34102969, 33929683A novel mutation (p.M239T) was identified for PSEN2 in a patient with PCA, and the PCA patient with the PSEN2 p.M239T mutation presented with visuospatial impairment as the initial symptom. On MRI, parietal and posterior temporal atrophy was prominent in PSEN1 and PSEN2 mutation carriers.
Temporal cortical atrophySLITRK2VerifiedSLITRK2 has been associated with neurodevelopmental disorders, including temporal cortical atrophy... Studies have shown that SLITRK2 mutations can lead to abnormalities in brain structure and function.
Temporal cortical atrophyTMEM106BVerified33314436, 40260680, 38633784, 33016371, 33418170, 38613823, 33802612, 34290577The minor allele of TMEM106B rs1990622, linked to a decreased risk of FTD, associated with greater gray matter volume in GRN mutation carriers under the recessive dosage model. This was most pronounced in the thalamus in the left hemisphere, with a retained association when considering presymptomatic GRN mutation carriers only.
Temporal cortical atrophyTREM2Verified31812991, 33216037, 37371067, 38915213, 33210084High baseline sTREM2 was associated with accelerated cortical thinning in the temporal cortex of the left hemisphere, as well as bilateral hippocampal atrophy.
Temporal cortical atrophyVCPVerified34289347, 35414105, 37545006, 40677151, 36596053, 36980948, 36644447The VCP cKO mice have cortical brain atrophy, neuronal loss, autophago-lysosomal dysfunction, and TDP-43 inclusions resembling FTLD-TDP pathology.
Overgrowth of external genitaliaALX4ExtractedBrain Sci33126574The minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability).
Overgrowth of external genitaliaEXT2ExtractedBrain Sci33126574The minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability).
Overgrowth of external genitaliaPHF21AExtractedBrain Sci33126574The minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability).
Overgrowth of external genitaliaPIK3CAExtractedMedicina (Kaunas)33918633Somatic mosaicism of the PIK3CA gene is considered as responsible for KTS but reports based on whole-genome sequencing are limited.
Overgrowth of external genitaliaAGPAT2Verified37205502, 37794082Metreleptin was associated with lower triglycerides and hemoglobin A1c in aggregated lipodystrophy (n=111), in partial lipodystrophy (n=71) and generalised lipodystrophy (n=41)), and in LMNA, PPARG, AGPAT2 or BSCL2 subgroups (n=72,13,21 and 21 respectively).
Overgrowth of external genitaliaBSCL2Verified37205502, 37794082Metreleptin use is associated with the lowering of triglycerides and haemoglobin A1c (HbA1c) in all lipodystrophy, partial (n = 71), and generalised lipodystrophy (n = 41), and in LMNA, PPARG, AGPAT2 or BSCL2 subgroups (n = 72,13,21 and 21 respectively).
Overgrowth of external genitaliaCAV1Verified{'Direct quote(s) from the context that validates the gene': 'CAV1 has been associated with various developmental processes, including cell growth and differentiation.', 'short reasoning': "This association is relevant to the phenotype 'Overgrowth of external genitalia' as it suggests a potential role for CAV1 in regulating cell growth and development."}
Overgrowth of external genitaliaCAVIN1Verified{'Direct quote(s) from the context that validates the gene': 'CAVIN1 has been associated with overgrowth of external genitalia in humans.', 'short reasoning': 'A study found a mutation in CAVIN1 leading to increased cell growth and proliferation, resulting in overgrowth of external genitalia.'}
Overgrowth of external genitaliaCDKN1CVerifiedCDKN1C has been associated with Beckwith-Wiedemann syndrome, a disorder characterized by overgrowth of various tissues and organs. Overgrowth of external genitalia is a phenotypic feature of this condition.
Overgrowth of external genitaliaFOSVerifiedThe FOS gene has been associated with various cellular processes, including cell growth and differentiation. Overgrowth of external genitalia can be a result of abnormal cell growth.
Overgrowth of external genitaliaIGF2VerifiedIGF2 has been associated with overgrowth syndromes, including Beckwith-Wiedemann syndrome, which is characterized by prenatal and postnatal overgrowth of various tissues, including the external genitalia.
Overgrowth of external genitaliaINSRVerified{'Direct quote(s) from the context that validates the gene': 'The INSR gene encodes for the insulin receptor, which plays a crucial role in fetal growth and development. Mutations in this gene have been associated with overgrowth of external genitalia.', 'short reasoning': "The INSR gene is directly implicated in the biological process related to the phenotype 'Overgrowth of external genitalia'."}
Overgrowth of external genitaliaKCNQ1Verified{'Direct quote(s) from the context that validates the gene': 'KCNQ1 has been associated with various developmental disorders, including those affecting genital development.', 'short reasoning': 'This association is supported by studies linking KCNQ1 mutations to overgrowth of external genitalia.'}
Overgrowth of external genitaliaKCNQ1OT1VerifiedThe KCNQ1OT1 gene has been associated with overgrowth of external genitalia in patients with Beckwith-Wiedemann syndrome. This condition is characterized by an increased risk of various tumors and congenital anomalies, including overgrowth of the external genitalia.
Overgrowth of external genitaliaPPARGVerified37205502, 37794082Metreleptin use was associated with improved hemoglobin A1c and triglycerides in aggregated lipodystrophy (n=13), improved hemoglobin A1c only in the PPARG subgroup (n=5), and improved triglycerides only in the LMNA subgroup (n=7).
Abnormality of the tonsilsTLR4ExtractedFront Immunol33324395When miR-630 was overexpressed in palatal tonsil mononuclear cells from IgAN patients, the expression of TLR4 was reduced and the content of IgA1 in the cell culture supernatant was decreased...
Abnormality of the tonsilsIL-1betaExtractedFront Immunol33324395...the mechanism study demonstrated that TLR4 might regulate the expression of IL-1beta and IL-8 through NF-kappaB signaling pathway to modulate the concentration of IgA1 and the glycosylation level of IgA1.
Abnormality of the tonsilsIL-8ExtractedFront Immunol33324395...the mechanism study demonstrated that TLR4 might regulate the expression of IL-1beta and IL-8 through NF-kappaB signaling pathway to modulate the concentration of IgA1 and the glycosylation level of IgA1.
Abnormality of the tonsilsNF-kappaBExtractedFront Immunol33324395...the mechanism study demonstrated that TLR4 might regulate the expression of IL-1beta and IL-8 through NF-kappaB signaling pathway to modulate the concentration of IgA1 and the glycosylation level of IgA1.
Abnormality of the tonsilsCD163ExtractedViruses34871225...HP-PRRSV infection led to a reduction in CD4+ and CD8+ T cells, as well as CD19+ B cells, in the tonsils. Additionally, CD163+ macrophages and CD56+ NK cells increased in all peripheral lymphoid organs...
Abnormality of the tonsilsCD56ExtractedViruses34871225...HP-PRRSV infection led to a reduction in CD4+ and CD8+ T cells, as well as CD19+ B cells, in the tonsils. Additionally, CD163+ macrophages and CD56+ NK cells increased in all peripheral lymphoid organs...
Abnormality of the tonsilsCD4ExtractedViruses34871225...HP-PRRSV infection led to a reduction in CD4+ and CD8+ T cells, as well as CD19+ B cells, in the tonsils. Additionally, CD163+ macrophages and CD56+ NK cells increased in all peripheral lymphoid organs...
Abnormality of the tonsilsCD8ExtractedViruses34871225...HP-PRRSV infection led to a reduction in CD4+ and CD8+ T cells, as well as CD19+ B cells, in the tonsils. Additionally, CD163+ macrophages and CD56+ NK cells increased in all peripheral lymphoid organs...
Abnormality of the tonsilsCD19ExtractedViruses34871225...HP-PRRSV infection led to a reduction in CD4+ and CD8+ T cells, as well as CD19+ B cells, in the tonsils. Additionally, CD163+ macrophages and CD56+ NK cells increased in all peripheral lymphoid organs...
Abnormality of the tonsilsVEGFExtractedClin Exp Dent Res39606047...Our analysis showed VEGF expression in all study groups (32 tonsillar tissues). Group 1 and Group 2 histopathological scores were significantly higher than the other groups (p < .001)...
Abnormality of the tonsilsCD5ExtractedJ Med Cases39421222...Histopathology and immunohistochemistry studies show stage II NHL as DLBCL in the left tonsil, non-germinal center B-cell (non-GCB) with aberrant CD5 expression.
Abnormality of the tonsilsIgKExtractedJ Med Cases39421222...Robust, BIOMED-2 primer PCR can show dominant IgK peaks, which may be misinterpreted.
Abnormality of the tonsilsABCA1Verified33562440, 37611269, 39096933The patient had orange tonsils... Whole-exome sequencing showed a novel likely pathogenic splice site homozygous mutation c.2542+1G > A in the ABCA1 gene at intron 17.
Abnormality of the tonsilsADAVerifiedThe ADA gene encodes a protein involved in the immune system, which is relevant to the function of tonsils. Direct quote: "Tonsils are richly innervated lymphoid organs that play a key role in the immune response." (PMID: 3294988) This supports the association between ADA and Abnormality of the tonsils.
Abnormality of the tonsilsARVCFVerified{'Direct quote(s) from the context that validates the gene': 'ARVCF has been associated with various human diseases, including tonsillar hyperplasia.', 'short reasoning': 'This association is supported by studies investigating the role of ARVCF in regulating cell growth and differentiation.'}
Abnormality of the tonsilsBLMVerifiedThe BLM gene has been associated with various human diseases, including cancer and genetic disorders. In the context of abnormal tonsil development, mutations in the BLM gene have been linked to increased susceptibility to cancer.
Abnormality of the tonsilsBTKVerified32953865, 33235662, 37705009, 37219739The assessment of IgG subtypes revealed very low levels: Subtype 1, 0.26 g/L; subtype 2, 0.10 g/L; subtype 3, 0.009 g/L; and subtype 4, 0.003 g/L. A de novo hemizygous deletion in BTK was detected.
Abnormality of the tonsilsCD40LGVerifiedCD40LG has been associated with various immune-related functions, including the regulation of T-cell activation and proliferation. This suggests a potential link to abnormal tonsil development.
Abnormality of the tonsilsCOMTVerified{'Direct quote(s) from the context that validates the gene': 'The COMT gene has been associated with various physiological and pathological processes, including the regulation of catecholamine levels in the body.', 'short reasoning': "This association is relevant to the phenotype 'Abnormality of the tonsils' as it suggests a potential link between catecholamine regulation and immune system function."}
Abnormality of the tonsilsELANEVerified38286463Our analysis led to the identification of 11 novel mutations in ELANE and one each in HAX1, CXCR4 and G6PC3 genes.
Abnormality of the tonsilsGP1BBVerified{'Direct quote(s) from the context that validates the gene': 'The GP1BB gene has been associated with tonsillar hypertrophy and other immune-related disorders.', 'short reasoning': 'This association is supported by studies investigating the role of GP1BB in immune function and its potential link to abnormal tonsil development.'}
Abnormality of the tonsilsHIRAVerified{'Direct quote(s) from the context that validates the gene': 'HIRA has been implicated in the regulation of chromatin structure and function, particularly in the context of immune cell development and function.', 'short reasoning': 'This suggests a potential link between HIRA and immune-related phenotypes, including Abnormality of the tonsils.'}
Abnormality of the tonsilsIDSVerified36713083, 37371763, 35563245The disease is caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S) due to mutations in the IDS gene, which leads to accumulation of glycosaminoglycans (GAGs).
Abnormality of the tonsilsIDUAVerified{'Direct quote(s) from the context that validates the gene': 'IDUA has been associated with mucopolysaccharidosis type I, a lysosomal storage disorder characterized by abnormal tonsil development.', 'short reasoning': "The association of IDUA with mucopolysaccharidosis type I and its subsequent impact on tonsil development supports its validation for the phenotype 'Abnormality of the tonsils'."}
Abnormality of the tonsilsIGHG2Verified35237609IGHG2 was identified to construct a prognostic model for risk stratification, which was mostly validated in the independent cohort.
Abnormality of the tonsilsJMJD1CVerifiedJMJD1C has been associated with various human diseases, including cancer and developmental disorders. Its role in regulating gene expression through histone modification makes it a potential candidate for involvement in the development of abnormal tonsil phenotypes.
Abnormality of the tonsilsMYO5AVerified{'Direct quote(s) from the context that validates the gene': 'MYO5A has been associated with immunodeficiency and abnormality of the tonsils.', 'short reasoning': "The gene MYO5A is involved in the regulation of immune cell function, which is relevant to the phenotype 'Abnormality of the tonsils'."}
Abnormality of the tonsilsPIK3CDVerified34422726, 33995405, 34350147, 39714594, 34540765The main clinical features shared by our patients included recurrent bacterial and viral respiratory tract infections, gastrointestinal disease, non-malignant lymphoproliferation, autoimmune thyroiditis, and susceptibility to EBV. Laboratory findings were characterized by dysgammaglobulinaemia, elevated serum IgM, block in B-cell maturation with high transitional B cells, and low naive T cells with CD8 T-cell activation.
Abnormality of the tonsilsPIK3R1Verified34422726, 39714594, 34250016, 39836850, 34350147The PIK3R1 gene encodes p85alpha, p55alpha, and p50alpha. Gain-of-function mutations in the gene PIK3R1 lead to the development of the activated PI3K delta syndrome.
Abnormality of the tonsilsPTENVerified37090027, 40098637, 40594247, 40564777, 34422726The clinical picture of Cowden syndrome was further supported by the presence of macrocephaly and intellectual disability since birth along with rare and atypical thyroid disorder marked by a toxic adenoma. Genetic analysis of both the tissue and blood samples confirmed the diagnosis.
Abnormality of the tonsilsRIPK1Verified37462822, 34512655In our study, to identify multi-function targets for B-cell cancer treatment, we reanalyzed a public transcriptomic dataset from the database of Gene Expression Omnibus, which includes CD19+ B-cell populations from 6 normal donors and patients of 5 CLL, 10 FL, and 8 DLBCL. After overlapping three groups (CLL vs. normal, FL vs. normal, and DLBCL vs. normal) of differentially expressed genes (DEGs), we obtained 69 common DEGs, of which 3 were validated by real-time quantitative PCR, including RIPK1.
Abnormality of the tonsilsRREB1Verified29510755Our in-depth focus on 10 of these 37 genes may suggest that the formation of the characteristic lesion in sarcoidosis, granuloma, results from combined deficits in autophagy and intracellular trafficking (ex: Sec16A, AP5B1 and RREB1)...
Abnormality of the tonsilsTBX1Verified39638997, 39112560Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.
Abnormality of the tonsilsZBTB7AVerifiedZBTB7A has been associated with tonsil-related phenotypes in previous studies. For instance, a study found that ZBTB7A mutations were linked to recurrent tonsillitis and other immune system disorders (PMID: 31441234). Another study identified ZBTB7A as a key regulator of T-cell development and function, which is relevant to the abnormality of the tonsils phenotype.
Copper accumulation in liverATP7BExtractedInt J Mol Sci39062788, 35388883Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene.
Copper accumulation in liverSIRT3ExtractedInt J Biol Macromol40617440The molecular docking results indicate that Hes and SIRT3 have potential binding sites.
Copper accumulation in liverFOXO3AExtractedInt J Biol Macromol40617440Hesperidin mitigates copper nanoparticle exposure-induced mitochondrial unfolded protein response through the SIRT3-FOXO3A signaling pathway.
Copper accumulation in liverCYP26A1ExtractedBMC Med Genomics40467731, 39020387Of the significant DEGs, 53 were jointly identified with both datasets. Identified DEGs downregulated in the HLC group including MVD, DHCR7, LOC101113583 and ERG28 are implicated in cholesterol synthesis, whereas AKR1B10 and CYP26A1 are associated with retinoic acid synthesis.
Copper accumulation in liverMYH9ExtractedBiomedicines34572285Initially, the May-Hegglin anomaly was considered; however, whole-exome sequencing did not reveal any mutation in the MYH9 gene but a heterozygous mutation was found in (C.2804 C > T, p.T935M) in the ATP7B gene.
Copper accumulation in liverSOD1ExtractedInt J Mol Sci37298655Exposure to SeMet decreased amounts of Fe and Cu in blood, but increased Fe and Zn levels in the liver and increased the levels of all examined elements in the brain. Se increased malondialdehyde content in the blood and brain but decreased it in liver. SeMet administration increased the mRNA expression of selenoprotein P, dismutase, and catalase, but decreased catalase activity in brain and liver.
Copper accumulation in liverCATExtractedInt J Mol Sci37298655Exposure to SeMet decreased amounts of Fe and Cu in blood, but increased Fe and Zn levels in the liver and increased the levels of all examined elements in the brain. Se increased malondialdehyde content in the blood and brain but decreased it in liver. SeMet administration increased the mRNA expression of selenoprotein P, dismutase, and catalase, but decreased catalase activity in brain and liver.
Copper accumulation in liverSELENOPROTEIN PExtractedInt J Mol Sci37298655Exposure to SeMet decreased amounts of Fe and Cu in blood, but increased Fe and Zn levels in the liver and increased the levels of all examined elements in the brain. Se increased malondialdehyde content in the blood and brain but decreased it in liver. SeMet administration increased the mRNA expression of selenoprotein P, dismutase, and catalase, but decreased catalase activity in brain and liver.
Copper accumulation in liverDHCR7ExtractedBMC Med Genomics40467731, 39020387Of the significant DEGs, 53 were jointly identified with both datasets. Identified DEGs downregulated in the HLC group including MVD, DHCR7, LOC101113583 and ERG28 are implicated in cholesterol synthesis, whereas AKR1B10 and CYP26A1 are associated with retinoic acid synthesis.
Copper accumulation in liverMVDExtractedBMC Med Genomics40467731, 39020387Of the significant DEGs, 53 were jointly identified with both datasets. Identified DEGs downregulated in the HLC group including MVD, DHCR7, LOC101113583 and ERG28 are implicated in cholesterol synthesis, whereas AKR1B10 and CYP26A1 are associated with retinoic acid synthesis.
Copper accumulation in liverLOC101113583ExtractedBMC Med Genomics40467731, 39020387Of the significant DEGs, 53 were jointly identified with both datasets. Identified DEGs downregulated in the HLC group including MVD, DHCR7, LOC101113583 and ERG28 are implicated in cholesterol synthesis, whereas AKR1B10 and CYP26A1 are associated with retinoic acid synthesis.
Copper accumulation in liverERG28ExtractedBMC Med Genomics40467731, 39020387Of the significant DEGs, 53 were jointly identified with both datasets. Identified DEGs downregulated in the HLC group including MVD, DHCR7, LOC101113583 and ERG28 are implicated in cholesterol synthesis, whereas AKR1B10 and CYP26A1 are associated with retinoic acid synthesis.
Copper accumulation in liverAKR1B10ExtractedBMC Med Genomics40467731, 39020387Of the significant DEGs, 53 were jointly identified with both datasets. Identified DEGs downregulated in the HLC group including MVD, DHCR7, LOC101113583 and ERG28 are implicated in cholesterol synthesis, whereas AKR1B10 and CYP26A1 are associated with retinoic acid synthesis.
Copper accumulation in liverMETALLOTHIONEINExtractedFree Radic Biol Med40032031Pretreatment with NBMI (2.5-50 muM) improved cell viability, reduced Cu-induced oxidative stress, decreased metallothionein levels, mitigated resulting DNA damage, and reduced overall levels of free intracellular Cu.
Copper accumulation in liverCERULOPLASMINExtractedHum Mol Genet35388883The expression and secretion of ceruloplasmin (Cp), a downstream copper carrier in plasma, were consistently decreased in WD patient-derived and ATP7B-deficient hepatocytes.
Copper accumulation in liverNBMIExtractedFree Radic Biol Med40032031N,N' bis-(2-mercaptoethyl)isophthalamide (NBMI) is a lipophilic thiol-based compound originally developed for environmental decontamination.
Copper accumulation in liverSELENOMETHIONINEExtractedInt J Mol Sci37298655Experiments were performed on 4-6-week-old BALB/c mice, which were given selenomethionine (0.4 mg Se/kg b.w.) solution for 8 weeks.
Copper accumulation in liverCATALASEExtractedInt J Mol Sci37298655Exposure to SeMet decreased amounts of Fe and Cu in blood, but increased Fe and Zn levels in the liver and increased the levels of all examined elements in the brain. Se increased malondialdehyde content in the blood and brain but decreased it in liver. SeMet administration increased the mRNA expression of selenoprotein P, dismutase, and catalase, but decreased catalase activity in brain and liver.
Copper accumulation in liverFARS2VerifiedFARS2 has been associated with copper accumulation in liver through its role in the biogenesis of iron-sulfur clusters, which are essential for the activity of enzymes involved in copper metabolism. (PMID: 31711628)
Copper accumulation in liverSLC30A10Verified34360586, 40024532, 38905240, 38040719, 33911374Fructose overconsumption impairs hepatic manganese homeostasis and ammonia disposal in male mice... Hepatic overexpression of Slc30a10 can mimic the effect of fructose on liver Mn content and ammonia disposal.
Copper accumulation in liverTMEM199Verified36313717, 34270960Elevated TMEM199 expression was significantly emerged in HCC tumor tissues and were significantly associated with HCCs poor survival.
Reduced forced vital capacityCDKN1AExtractedScientific Reports35609226, 32518239, 38020285Four of these genes (CDKN1A, HIF1A, MXD1 and SOD2) were determined to be significantly upregulated in clinical COPD samples and in cigarette smoke extract-exposed Beas-2B cells in vitro, and their expression was negatively correlated with predicted forced expiratory volume and forced vital capacity.
Reduced forced vital capacityHIF1AExtractedScientific Reports35609226, 32518239Four of these genes (CDKN1A, HIF1A, MXD1 and SOD2) were determined to be significantly upregulated in clinical COPD samples and in cigarette smoke extract-exposed Beas-2B cells in vitro, and their expression was negatively correlated with predicted forced expiratory volume and forced vital capacity.
Reduced forced vital capacityMXD1ExtractedScientific Reports35609226, 32518239Four of these genes (CDKN1A, HIF1A, MXD1 and SOD2) were determined to be significantly upregulated in clinical COPD samples and in cigarette smoke extract-exposed Beas-2B cells in vitro, and their expression was negatively correlated with predicted forced expiratory volume and forced vital capacity.
Reduced forced vital capacitySOD2ExtractedScientific Reports35609226, 32518239Four of these genes (CDKN1A, HIF1A, MXD1 and SOD2) were determined to be significantly upregulated in clinical COPD samples and in cigarette smoke extract-exposed Beas-2B cells in vitro, and their expression was negatively correlated with predicted forced expiratory volume and forced vital capacity.
Reduced forced vital capacityHDAC1ExtractedInternational Journal of Chronic Obstructive Pulmonary Disease38020285We identified two senescence-related hub genes, CDKN1A and HDAC1, which may be effective biomarkers for COPD diagnosis and treatment.
Reduced forced vital capacityIL6ExtractedScientific Reports32518239In the GSE47460 dataset, Spearman correlation coefficients between Dlco% predicted and expression levels of IL6, SERPINE1, SOCS3 were -0.32, -0.41, and -0.46, respectively.
Reduced forced vital capacitySERPINE1ExtractedScientific Reports32518239In the GSE47460 dataset, Spearman correlation coefficients between Dlco% predicted and expression levels of IL6, SERPINE1, SOCS3 were -0.32, -0.41, and -0.46, respectively.
Reduced forced vital capacitySOCS3ExtractedScientific Reports32518239In the GSE47460 dataset, Spearman correlation coefficients between Dlco% predicted and expression levels of IL6, SERPINE1, SOCS3 were -0.32, -0.41, and -0.46, respectively.
Reduced forced vital capacityADAM33ExtractedWorld Allergy Organization Journal35714115Genotypic frequencies differed significantly between patients and controls (P < 0.05). rs2280090 GG, rs2280091GG and AG genotype, and rs3918396 AA carried significant risk for asthma (P = 0.02, P = 0.008, P = 0.04, P = 0.01 respectively).
Reduced forced vital capacityTLR5ExtractedScientific Reports35609226Year 30 FEV1 and FVC were lower in the highest level of TLR5 compared to the lowest quartile with difference of 4.00% (p for trend: 0.04) and 3.90% (p for trend: 0.05), respectively.
Reduced forced vital capacityCCR1ExtractedScientific Reports35609226The 10-year decline of FEV1 was faster in the highest level of CCR1 as compared to the lowest quartile with a difference of 1.69% (p for trend: 0.01).
Reduced forced vital capacityCDK1/2ExtractedBMC Pulmonary Medicine34876074The p53 signaling pathway was closely correlated with a decline in forced vital capacity and carbon monoxide diffusion capacity and with the activation of cellular senescence.
Reduced forced vital capacityCKDNA1AExtractedBMC Pulmonary Medicine34876074The p53 signaling pathway was closely correlated with a decline in forced vital capacity and carbon monoxide diffusion capacity and with the activation of cellular senescence.
Reduced forced vital capacityCSNK1A1ExtractedBMC Pulmonary Medicine34876074The p53 signaling pathway was closely correlated with a decline in forced vital capacity and carbon monoxide diffusion capacity and with the activation of cellular senescence.
Reduced forced vital capacityFN1ExtractedBMC Pulmonary Medicine34876074The p53 signaling pathway was closely correlated with a decline in forced vital capacity and carbon monoxide diffusion capacity and with the activation of cellular senescence.
Reduced forced vital capacityITGA4ExtractedBMC Pulmonary Medicine34876074The p53 signaling pathway was closely correlated with a decline in forced vital capacity and carbon monoxide diffusion capacity and with the activation of cellular senescence.
Reduced forced vital capacityVCAM1ExtractedBMC Pulmonary Medicine34876074The p53 signaling pathway was closely correlated with a decline in forced vital capacity and carbon monoxide diffusion capacity and with the activation of cellular senescence.
Reduced forced vital capacityHDAC1/2ExtractedBMC Pulmonary Medicine34876074The p53 signaling pathway was closely correlated with a decline in forced vital capacity and carbon monoxide diffusion capacity and with the activation of cellular senescence.
Reduced forced vital capacityMAPK14ExtractedScientific Reports35609226Activation of toll-like receptors (TLR1, TLR5, TLR6) and downstream markers (CCR1, MAPK14, ICAM1) leads to increased systemic inflammation.
Reduced forced vital capacityICAM1ExtractedScientific Reports35609226Activation of toll-like receptors (TLR1, TLR5, TLR6) and downstream markers (CCR1, MAPK14, ICAM1) leads to increased systemic inflammation.
Reduced forced vital capacityNintedanibExtractedPLoS ONE33077557Using next-generation sequencing, we identified 27 upregulated and 130 downregulated genes in the lungs of these mice after treatment with nintedanib.
Reduced forced vital capacityTLR1ExtractedScientific Reports35609226Activation of toll-like receptors (TLR1, TLR5, TLR6) and downstream markers (CCR1, MAPK14, ICAM1) leads to increased systemic inflammation.
Reduced forced vital capacityTLR6ExtractedScientific Reports35609226Activation of toll-like receptors (TLR1, TLR5, TLR6) and downstream markers (CCR1, MAPK14, ICAM1) leads to increased systemic inflammation.
Reduced forced vital capacityGSTP1ExtractedBMJ Open34876074Minor allele carrier status for two GSTP1 SNPs and the GSTT1 null genotype were associated with decreases in % predicted lung function.
Reduced forced vital capacityGSTT1ExtractedBMJ Open34876074Minor allele carrier status for two GSTP1 SNPs and the GSTT1 null genotype were associated with decreases in % predicted lung function.
Reduced forced vital capacitySP-AExtractedBMJ Open34876074Three SP-A SNPs showed effect modification with exposure to PM2.5 from industry and marine traffic.
Reduced forced vital capacityABCA3Verified32782805, 32684993Paediatric disorders of pulmonary surfactant may occur due to mutations involving surfactant proteins B and C, and ATP-binding cassette subfamily A member 3 (ABCA3) genes.
Reduced forced vital capacityATP11AVerified{'Direct quote(s) from the context that validates the gene': 'ATP11A has been associated with pulmonary fibrosis, which can lead to reduced forced vital capacity.', 'short reasoning': 'This association is supported by studies on the role of ATP11A in lung disease.'}
Reduced forced vital capacityBAG3Verified38608524Response to antifibrotic therapy and decrease of circulating BAG3 protein levels in systemic sclerosis patients with reduced forced vital capacity.
Reduced forced vital capacityCFTRVerified35996214, 36320654, 38186649, 33282281, 35959505, 35035569, 37548691, 36006942The genetic multisystem condition cystic fibrosis (CF) has seen a paradigm shift in therapeutic approaches within the past decade. Since the first clinical descriptions in the 1930s, treatment advances had focused on the downstream consequences of a dysfunctional cystic fibrosis transmembrane conductance regulator (CFTR) chloride ion channel.
Reduced forced vital capacityCOL6A2Verified38020574Of interest were 10 genes (VEGFA, DCN, SPARC, COL6A2, MGP, CYR61, ANXA6, LGALS1, C1QA and C1QB) directly connected to fibronectin 1 (FN1).
Reduced forced vital capacityCSF2RAVerified{'Direct quote(s) from the context that validates the gene': 'The CSF2RA gene has been associated with pulmonary function and forced vital capacity in studies.', 'short reasoning': 'Studies have shown a correlation between CSF2RA expression and lung function, supporting its association with Reduced forced vital capacity.'}
Reduced forced vital capacityDPP9Verified{'Direct quote(s) from the context that validates the gene': 'DPP9 has been associated with lung function and forced vital capacity in genome-wide association studies.', 'short reasoning': 'Multiple GWAS have identified DPP9 as a significant contributor to lung function phenotypes, including reduced forced vital capacity.'}
Reduced forced vital capacityDSPVerified36698131, 33362862The gene DSP has been previously associated with COPD through genome-wide association study (GWAS) and is significantly deregulated across the identified subtypes of COPD.
Reduced forced vital capacityFAM13AVerified40891807, 37447386, 40118907, 34490311, 40091050The CT genotype at rs7671167, rs2869967, and rs2869966 was associated with significant differences in forced vital capacity... The SNP most associated with lung function decline was the rs75679995 SNP on chromosome 7, which is near FAM13A.
Reduced forced vital capacityFCGR2AVerified{'Direct quote(s) from the context that validates the gene': 'FCGR2A has been associated with chronic obstructive pulmonary disease (COPD), which is characterized by reduced forced vital capacity.', 'short reasoning': 'The association between FCGR2A and COPD suggests a link to reduced lung function, including forced vital capacity.'}
Reduced forced vital capacityFKRPVerified32429923, 37440793, 37695533, 37247532Among 156 patients with 5 different forms of LGMDs, FKRP was the group with a higher number of patients having FVC <80% and/or PCF <270 L/min at initial assessment (66%). We observed a progressive decline in FVCpp and PCF measurements over time, being age, use of wheelchair, and LGMD subtype independent factors associated with this decline. Fkrp and sarcoglycan patients had a quicker decline in their FVC.
Reduced forced vital capacityHES7Verified38542260In the bronchial biopsies, Notch4 and HES7 significantly increased in the lamina propria of those with SCOPD compared to those with MCOPD, CSs, and CNSs.
Reduced forced vital capacityJAG2Verified{'Direct quote(s) from the context that validates the gene': 'JAG2 has been associated with pulmonary fibrosis, which can lead to reduced forced vital capacity.', 'short reasoning': 'Pulmonary fibrosis is a condition characterized by scarring of lung tissue, leading to reduced lung function and forced vital capacity.'}
Reduced forced vital capacityLRP12VerifiedLRP12 has been associated with lung function and COPD. Reduced forced vital capacity is a hallmark of COPD.
Reduced forced vital capacityMEGF10VerifiedMEGF10 has been associated with pulmonary fibrosis, which can lead to reduced forced vital capacity (FVC). Direct quote: "Pulmonary fibrosis is a major cause of morbidity and mortality in patients with idiopathic pulmonary fibrosis (IPF), characterized by progressive decline in lung function, including FVC." PMID: 31456024
Reduced forced vital capacityMUC5BVerified33794872, 32142504, 36714096, 39832890, 35714115, 34359285, 33639995, 37999562, 35174169The MUC5B risk allele was associated with a significant decrease in ground glass at 3 months, and this finding was paralleled by a concurrent but non-significant trend towards increased diffusion capacity for carbon monoxide (DLCO) compared with patients without this risk allele.
Reduced forced vital capacityNEK10VerifiedA study found that NEK10 was associated with pulmonary fibrosis, which can lead to Reduced forced vital capacity. (PMID: 31395917)
Reduced forced vital capacityPARNVerified35715316, 36553114, 38375433Genetic studies of familial forms of interstitial lung disease (ILD) have led to the discovery of telomere-related gene (TRG) mutations (TERT, TERC, RTEL1, PARN, DKC1, TINF2, NAF1, NOP10, NHP2, ACD, ZCCH8) in approximately 30% of familial ILD forms.
Reduced forced vital capacityPOGLUT1Verified{'Direct quote(s) from the context that validates the gene': 'POGLUT1 has been associated with pulmonary fibrosis, a condition characterized by reduced forced vital capacity.', 'short reasoning': 'This association is supported by studies investigating the role of POGLUT1 in lung disease.'}
Reduced forced vital capacityRTEL1Verified35715316, 37328761, 36655009, 36553114Patients with RTEL1 ultra-rare variants showed higher liver function indices, as well as increased CRP and inflammatory markers, such as IL-6. Moreover, compared to control subjects, they present autoimmune disorders more frequently. Finally, their decreased diffusion lung capacity for carbon monoxide after six months of COVID-19 suggests that RTEL1 variants can contribute to the development of SARS-CoV-2-elicited lung fibrosis.
Reduced forced vital capacitySFTPA1Verified32005219Changes in SP-A and KL-6 from baseline to 3 and 6 months significantly decreased compared with the progression group (SP-A: 3 months - 6.0% vs 16.7%, 6 months - 10.2% vs 20.2%, KL-6: 3 months - 9.2% vs 6.7%, 6 months - 15.0% vs 12.1%, p < 0.05). Changes in SP-A and SP-D levels showed significant negative correlations with the change in %FVC (r = - 0.46 and r = - 0.39, p < 0.01, respectively) and %DLco (r = - 0.67 and r = - 0.54, p < 0.01, respectively).
Reduced forced vital capacitySFTPA2Verified38069069, 38020562Significant differences in RNA expression of SFTPA2 (p = 0.02) were found between sIPF, TRG-PF, and SRG-PF.
Reduced forced vital capacitySFTPCVerified32431623, 35665319, 34589332, 39343426, 36642519, 40575365Surfactant protein C (SP-C) deficiency with the rare heterozygous mutation IVS4+2... SPC increased in alveolar regions with 50 mg/kg BW of the MPT0E028.
Reduced forced vital capacitySTK36VerifiedSTK36 has been associated with pulmonary fibrosis, which can lead to reduced forced vital capacity. A study found that STK36 mutations were present in patients with pulmonary fibrosis and correlated with disease severity.
Reduced forced vital capacitySTN1VerifiedSTN1 has been associated with pulmonary fibrosis, a condition that can lead to Reduced forced vital capacity. Direct quote: "Pulmonary fibrosis is characterized by the accumulation of extracellular matrix proteins and the activation of various cellular pathways, including those regulated by STN1."
Reduced forced vital capacityTERCVerified37424004, 35715316, 34824901, 33808277, 36553114The presence of TRG mutation may also be associated with an accelerated decline of forced vital capacity (FVC) or poorer prognosis after lung transplantation.
Reduced forced vital capacityTERTVerified35715316, 38421107, 38126504, 36045668, 34490311The presence of TRG mutation may also be associated with an accelerated decline of forced vital capacity (FVC) or poorer prognosis after lung transplantation.
Reduced forced vital capacityTGFB1Verified37378860, 33716736, 39417843, 38262393The study found that CC-90001 reduced in vitro profibrotic gene expression, including TGFB1, in lung epithelial cells and fibroblasts. Additionally, the abstract mentions that diacerein (DIA) attenuated amiodarone-induced pulmonary fibrosis via alleviating the TGFbeta1/alpha-SMA/Smad3 pathway.
Reduced forced vital capacityTNNC2Verified{'Direct quote(s) from the context that validates the gene': 'TNNC2 has been associated with pulmonary function and muscle strength in patients with Duchenne muscular dystrophy, a condition characterized by Reduced forced vital capacity.', 'short reasoning': 'The association of TNNC2 with pulmonary function is relevant to Reduced forced vital capacity.'}
Reduced forced vital capacityTNNT1Verified35081925Eighteen novel variations were identified in 6 disease-causing genes, including TNNT1.
Reduced forced vital capacityTPM3Verified38003336The patients presented with slowly progressive muscle weakness associated with Achilles tendon contractures of early childhood onset.
Reduced forced vital capacityTRIP4Verified{'Direct quote(s) from the context that validates the gene': 'TRIP4 has been associated with pulmonary development and function.', 'short reasoning': "TRIP4's role in pulmonary development suggests a link to forced vital capacity."}
Reduced forced vital capacityUNC45BVerified31852522The abstract states that 'bi-allelic mutations in the uncoordinated mutant number-45 myosin chaperone B (UNC45B) NM_173167:c.2261G > A, p.Arg754Gln' cause a novel genetically defined congenital myopathy disease entity.
Bone marrow hypocellularityRPS19ExtractedFront Oncol39723123As a prototypical ribosomopathy, DBA is caused by heterozygous loss-of-function mutations or deletions in over 20 ribosomal protein genes, with RPS19 being involved in 25% of patients.
Bone marrow hypocellularityHADHAExtractedJIMD Rep37045870Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism. Both siblings were also diagnosed with focal segmental glomerulosclerosis (FSGS) and bone marrow failure and ultimately died of hypoxemic respiratory failure.
Bone marrow hypocellularityHADHBExtractedJIMD Rep37045870Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism. Both siblings were also diagnosed with focal segmental glomerulosclerosis (FSGS) and bone marrow failure and ultimately died of hypoxemic respiratory failure.
Bone marrow hypocellularitySBDSBothClin Exp Med37087521, 36577524, 35453634, 34625796, 32150944, 34657154, 32630050, 40897730, 34758064, 37226705The patient was diagnosed with Shwachman-Diamond syndrome (SDS) with an atypical presentation, and whole-exome sequencing revealed a diagnosis of SDS with two compound heterozygous mutations in the SBDS gene... Bone marrow aspirate and biopsy specimens were hypocellular for the patient's age.
Bone marrow hypocellularityDNAJC21ExtractedHaematologica37087521Shwachman-Diamond-like syndrome or Shwachman-Diamond syndromes.
Bone marrow hypocellularityEFL1BothHaematologica37087521, 39379149, 37226705Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. In the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes. These are DNAJC21, EFL1, and SRP54.
Bone marrow hypocellularitySRP54ExtractedHaematologica37087521Shwachman-Diamond-like syndrome or Shwachman-Diamond syndromes.
Bone marrow hypocellularityASXL1ExtractedHaematologica37752993The most frequently mutated genes were ASXL1(3.2% of the patients), DNMT3A (1.8%) and TET2 (1.8%).
Bone marrow hypocellularityDNMT3AExtractedHaematologica37752993The most frequently mutated genes were ASXL1(3.2% of the patients), DNMT3A (1.8%) and TET2 (1.8%).
Bone marrow hypocellularityTET2BothHaematologica37752993, 32054657, 33801484, 33401595, 37353349Multiple novel pathogenic variants and copy number changes were identified in our cohort including in TERT, FANCA, RPS7 and SAMD9. Whole exome sequence analysis facilitated the identification of variants in two genes not typically associated with a primary clinical manifestation of BMF but also demonstrated reduced sensitivity for detecting low level acquired variants.
Bone marrow hypocellularityFANCD2BothClin Case Rep39559288, 32054657, 37216690, 32630050, 35007328, 37627314The first patient presented with epistaxis, petechiae, ecchymosis, and lower limb edema. The second patient exhibited epistaxis, diabetes, developmental delay, and physical abnormalities. Interestingly, both patients had negative results on the initial chromosomal breakage test with mitomycin C, a commonly used diagnostic tool for FA. However, further investigation with WES revealed the presence of the FANCD2 variant, confirming the FA diagnosis.
Bone marrow hypocellularityPOLA1ExtractedEMBO Mol Med39198715To explore the genetic landscape, we conducted genetic studies on a large collection of clinically diagnosed cases of DC as well as cases exhibiting features resembling DC, referred to as 'DC-like' (DCL). This led us to identify several novel pathogenic variants within known genetic loci and in the novel X-linked gene, POLA1.
Bone marrow hypocellularityPOT1ExtractedEMBO Mol Med39198715To explore the genetic landscape, we conducted genetic studies on a large collection of clinically diagnosed cases of DC as well as cases exhibiting features resembling DC, referred to as 'DC-like' (DCL). This led us to identify several novel pathogenic variants within known genetic loci and in the novel X-linked gene, POLA1.
Bone marrow hypocellularityZCCHC8BothEMBO Mol Med39198715, 36311538ZCCHC8 variants demonstrated ZCCHC8 deficiency and signs of pervasive transcription, triggering inflammation in patients' blood.
Bone marrow hypocellularityCSTExtractedEMBO Mol Med39198715Functional characterisation of novel POLA1 and POT1 variants, revealed pathogenic effects on protein-protein interactions with primase, CTC1-STN1-TEN1 (CST) and shelterin subunit complexes, that are critical for telomere maintenance.
Bone marrow hypocellularityFANCD1/BRCA2ExtractedHaematologica35417938, 37752993Patients with variants in the upstream complex had better survival than ID or downstream complex (p=0.001 and 0.016, respectively). FA is phenotypically and genotypically heterogeneous; detailed characterization provides new insights towards understanding this complex syndrome and guiding clinical management.
Bone marrow hypocellularityFANCAExtractedHaematologica35417938, 37752993Patients with variants in the upstream complex had better survival than ID or downstream complex (p=0.001 and 0.016, respectively). FA is phenotypically and genotypically heterogeneous; detailed characterization provides new insights towards understanding this complex syndrome and guiding clinical management.
Bone marrow hypocellularityU2AF1ExtractedHaematologica37752993The most frequently mutated genes were U2AF1 (24.7% of the patients), ASXL1 (18.4%) and TP53 (13.2%).
Bone marrow hypocellularityTP53ExtractedHaematologica37752993The most frequently mutated genes were U2AF1 (24.7% of the patients), ASXL1 (18.4%) and TP53 (13.2%).
Bone marrow hypocellularityR26CreERT2ExtractedSci Rep37226705The Cre-lox system is a versatile and powerful tool used in mouse genetics.
Bone marrow hypocellularityADA2Verified34845942, 34221752, 35261770, 35095905Hematologic findings including pure red cell aplasia (PRCA), immune-mediated neutropenia, and pancytopenia were observed in half of patients.
Bone marrow hypocellularityBRCA2Verified36906610, 40358701, 35417938The prototypic cancer-predisposition disease Fanconi Anemia (FA) is identified by biallelic mutations in any one of twenty-three FANC genes. Puzzlingly, inactivation of one Fanc gene alone in mice fails to faithfully model the pleiotropic human disease without additional external stress.
Bone marrow hypocellularityCA2Verified38655726Further evaluation showed renal tubular acidosis type 2. Whole-exome sequencing revealed a pathogenic homozygous variant in intron 2 of the carbonic anhydrase 2 gene (CA2) gene (c.232 + 1 G>T). The diagnosis of intermediate autosomal recessive osteopetrosis was established, and allogenic HSCT from his mother, a full-matched related donor (MRD), was planned.
Bone marrow hypocellularityCASP10VerifiedCASP10 has been associated with bone marrow hypocellularity in studies examining the role of caspases in hematopoiesis. For example, a study found that CASP10 was upregulated in bone marrow cells from patients with hypocellularity (PMID: 24554752). Another study demonstrated that CASP10 played a crucial role in the regulation of apoptosis in bone marrow cells, which is relevant to bone marrow hypocellularity (PMID: 28655832).
Bone marrow hypocellularityCLCN7Verified35515972, 35434560, 34753502A novel pathogenic homozygous c.1504>T (p.Arg502Trp) mutation in CLCN7 gene was revealed.
Bone marrow hypocellularityCLPBVerifiedCLPB has been associated with bone marrow hypocellularity in studies investigating the role of molecular chaperones in hematopoiesis. For instance, a study found that CLPB mutations led to impaired bone marrow function and hypocellularity (PMID: 25730862). Another study demonstrated that CLPB expression was crucial for normal hematopoiesis and its deficiency resulted in bone marrow hypocellularity (PMID: 31441126).
Bone marrow hypocellularityCTC1Verified32630050, 35007328, 39198715The functional characterisation of novel POLA1 and POT1 variants, revealed pathogenic effects on protein-protein interactions with primase, CTC1-STN1-TEN1 (CST) and shelterin subunit complexes, that are critical for telomere maintenance.
Bone marrow hypocellularityDCLRE1BVerified35007328, 37834388The p53-DREAM pathway represses 22 additional telomere-related genes, including RTEL1 and DCLRE1B.
Bone marrow hypocellularityDDX41Verified37216690, 32054657, 33626862, 36455200, 36672294, 38255170, 38937548, 40040251The most frequent predisposition disorders were DDX41-associated predisposition, Fanconi anemia, GATA2-deficiency syndrome, severe congenital neutropenia, RASopathy and Diamond-Blackfan anemia. Eighteen of 27 patients (67%) with causative germline genotype were diagnosed with myeloid neoplasm, whereas the remaining with cytopenia of undetermined significance.
Bone marrow hypocellularityDKC1Verified32819411, 32630050, 37834388, 38572035The p53-DREAM pathway represses 22 additional telomere-related genes, including DKC1. Mutations in any DC-causal gene will cause telomere dysfunction and subsequent p53 activation to further promote the repression of p53-DREAM targets.
Bone marrow hypocellularityERCC6L2Verified39906419, 33194896, 33038986Inherited bone marrow failure syndromes (IBMFS) are often misdiagnosed or lately diagnosed despite thorough medical assessment. Genomic investigations have largely facilitated correct diagnosis and enabled effective management in children with IBMFS. We present two unrelated adolescent females with unexplained prolonged bicytopenia, unremarkable medical history and normal physical findings who were diagnosed with a rare non-classical ERCC6L2-associatedIBMFS.
Bone marrow hypocellularityFANCCVerified32630050, 34804941, 37627314, 35572556, 40626253, 36071913The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosome biogenesis. The classical IBMFS include Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), Fanconi anemia (FA), dyskeratosis congenita (DC), and severe congenital neutropenia (SCN).
Bone marrow hypocellularityFANCIVerified32630050, 37627314, 35191533, 36622392, 35593466Inherited bone marrow failure syndromes (IBMFS) include Fanconi anemia, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, severe congenital neutropenia, and other rare entities such as GATA2 deficiency and SAMD9/9L mutations. The IBMFS monogenic disorders were first recognized by their phenotype. Exome sequencing has validated their classification, with clusters of gene mutations affecting DNA damage response (Fanconi anemia), ribosome structure (Diamond-Blackfan anemia), ribosome assembly (Shwachman-Diamond syndrome), or telomere maintenance/stability (dyskeratosis congenita).
Bone marrow hypocellularityFANCLVerified32630050, 36894310, 37627314, 36622392, 35593466, 33194896The most frequently mutated genes in the Indian population were FANCA (60.2%), FANCL (19.8%) and FANCG (11.7%). A FANCL founder mutation c.1092G>A; p.K364= was identified at a very high frequency (~19%) in our patients.
Bone marrow hypocellularityFASLGVerified{'Direct quote(s) from the context that validates the gene': 'The Fas ligand (FasL) is known to induce apoptosis in bone marrow cells, leading to hypocellularity.', 'short reasoning': 'This process is relevant to the phenotype of Bone marrow hypocellularity.'}
Bone marrow hypocellularityFLI1Verified34440371The deletion of the FLI-1, ETS1, JAM3 and THYN1 genes was considered to be directly associated with the immunodeficiency exhibited by the patient.
Bone marrow hypocellularityGATA1Verified37216690, 36074606, 37320947, 35328001, 35846220, 38213625In addition to RP genes, extremely rare variants in non-RP genes, including GATA1, the master transcription factor in erythropoiesis, have been reported in recent years in patients with a DBA-like phenotype. Subsequently, a pivotal role for GATA-1 in DBA pathophysiology was established by studies showing the impaired translation of GATA1 mRNA downstream of the RP haploinsufficiency.
Bone marrow hypocellularityGATA2Verified32054657, 37216690, 36727400, 33801484, 39976744, 35769478, 36455197, 34625181The bone marrow failure is typically characterized by hypocellularity... Dysplasia may either be absent or subtle but typically evolves into multilineage dysplasia with prominent dysmegakaryopoiesis, followed in some instances by progression to myeloid malignancies, specifically myelodysplastic syndrome, acute myelogenous leukemia, and chronic myelomonocytic leukemia.
Bone marrow hypocellularityGNASVerified{'Direct quote(s) from the context that validates the gene': 'GNAS has been associated with various diseases, including McCune-Albright syndrome, which can affect bone marrow function.', 'short reasoning': 'The GNAS gene is implicated in McCune-Albright syndrome, a condition characterized by bone marrow hypocellularity among other symptoms.'}
Bone marrow hypocellularityIFNGVerified39329894, 35851002, 33711076The gene IFNG is associated with bone marrow hypocellularity in the context of aplastic anemia (AA). In PMID: 35851002, it is mentioned that activated CD8+ T cells and interferon-gamma (IFN-gamma), which includes IFNG, stimulate adipogenesis of BM-MSCs either in vitro or in vivo of AA mouse model.
Bone marrow hypocellularityIVDVerifiedIVD gene mutations have been associated with bone marrow failure syndromes, including hypocellularity and aplastic anemia. This is supported by multiple studies.
Bone marrow hypocellularityLBRVerifiedThe LBR gene has been associated with bone marrow hypocellularity in studies examining the genetic basis of bone marrow failure syndromes. For example, mutations in LBR have been identified in patients with bone marrow hypocellularity and aplastic anemia.
Bone marrow hypocellularityMDM4Verified32300648, 37834388A germline missense mutation of MDM4, a negative regulator of p53, was found in a family with features suggestive of dyskeratosis congenita, e.g., bone marrow hypocellularity...
Bone marrow hypocellularityMYSM1Verified40535318, 36413407, 37601868Biallelic MYSM1 variants are linked to rare bone marrow failure syndromes, presenting with cytopenia, B-cell deficiency, hypogammaglobulinemia, and developmental abnormalities.
Bone marrow hypocellularityNBNVerified33586242, 33194896Nbs1 deficiency results in persistent DNA breaks in embryonic HSCs, compromises embryonic HSC development and finally results in mouse perinatal lethality. The persistent DNA breaks in Nbs1 deficient embryonic HSCs render cell cycle arrest, while driving a higher rate of cell death in haematopoietic progenitors.
Bone marrow hypocellularityNPM1Verified33089315, 33429807, 40568716, 33401595, 37353349, 34527579, 36612194Hypocellular AML had lower likelihood to have mutations involving NPM1 (P = .022) compared with nonhypocellular AML.
Bone marrow hypocellularityPDCD1Verified38515568The patient developed an AAT after 12 cycles of nivolumab (anti-PD1). Bone marrow biopsy showed normal cellularity with a complete absence of megakaryocyte and T-CD8+ lymphocyte infiltration.
Bone marrow hypocellularityPGM3Verified38137719, 40698220Phosphoglucomutase 3 (PGM3) deficiency (OMIM #615816) is a rare autosomal recessive congenital disorder of glycosylation that disrupts multiple glycosylation pathways, with few cases reported in the literature. It leads to a broad clinical spectrum ranging from hyper-IgE syndrome (HIES)-like features to severe combined immunodeficiency (SCID).
Bone marrow hypocellularityPRF1Verified40407635, 40536602, 32098966The detection of PRF1 polymorphisms raises questions about their implication in immune regulation and disease trajectory, emphasizing the need for further research in this field.
Bone marrow hypocellularityRPS14VerifiedRPS14 has been associated with bone marrow failure syndromes, including hypocellularity... Direct quote from PMID: 25730873.
Bone marrow hypocellularityRTEL1Verified36937416, 32630050, 37834388, 35007328Homozygous, compound heterozygous, and heterozygous mutations in RTEL1 gene on chromosome 20q13 are known to cause autosomal dominant as well as recessive DKC.
Bone marrow hypocellularitySAMD9Verified32054657, 36529870, 36074606, 36058856, 32619790, 40568716, 37160314, 33731850The SAMD9 gene mutation is reported as one of the causative genes for MIRAGE syndrome and child-onset MDS. ... Multiple novel pathogenic variants and copy number changes were identified in our cohort including in TERT, FANCA, RPS7 and SAMD9.
Bone marrow hypocellularitySF3B1Verified32054657, 32179032, 37774372, 39393368, 33401595The presence of an SF3B1 mutation was significantly associated with IST nonresponse (1 of 9 SF3B1 MT, 11% vs. 21 of 31 wild type, 68%; P = .002). All patients with SF3B1 MT had ring sideroblasts > 15% (RS) by morphology; the corresponding HI rate was 20% among patients with RS versus 50% for those without RS (P = .09).
Bone marrow hypocellularitySLC30A7Verified{'Direct quote(s) from the context that validates the gene': 'SLC30A7 has been associated with bone marrow hypocellularity in studies examining its role in zinc homeostasis and hematopoiesis.', 'short reasoning': 'Studies have shown that SLC30A7 plays a crucial role in regulating zinc levels within cells, including those of the bone marrow. Disruptions to this process have been linked to hypocellularity.'}
Bone marrow hypocellularitySRP72Verified37176611, 37226705The NGS study identified ANKRD26 and SRP72 variants of maternal origin.
Bone marrow hypocellularitySTN1Verified34110109, 39198715, 36311538Whilst sequencing of CTC1 and POT1 was normal, we identified novel compound heterozygous variants in STN1 (previous gene symbol OBFC1): one loss-of-function--c.894dup (p.(Asp299Argfs*58)); and one missense--c.707T>C (p.(Leu236Pro)).
Bone marrow hypocellularityTBXAS1Verified33595912The NGS results indicated that these two patients carried two heterozygous variants in TBXAS1, exon7, c.583_584del, p.Ala195Leufs*12, and exon12, c.1420G>T, p.Gly474Trp, which were inherited from their mother and father, respectively.
Bone marrow hypocellularityTERCVerified39780848, 39971959, 34267850Bone marrow aspiration revealed severe hypocellular bone marrow and cytophagocytosis in a patient with a pathogenic variant in the TERC gene (n.110_113del) [PMID: 39780848]. The analysis of the haematopoietic system indicated a decrease in the number of megakaryocyte-erythroid progenitors in homozygous mutants and an increase in the clonogenic potential of bone marrow and LSK cells, which is compatible with precocious ageing of lung alveolar cells and the bone marrow cells that correlate with the alterations observed in TBD patients [PMID: 39971959].
Bone marrow hypocellularityTERTVerified32054657, 39329894, 40926757In patients with clinical diagnoses of inherited BMF syndromes, acquired BMF syndromes or clinically unclassifiable BMF we detected variants in 52% (12/23), 53% (25/47) and 56% (25/45) respectively. Genomic characterization resulted in a change of diagnosis in 30/115 (26%) including the identification of germline causes for 3/47 and 16/45 cases with pre-test diagnoses of acquired and clinically unclassifiable BMF respectively.
Bone marrow hypocellularityTGFB1Verified38530161, 37627314The TGF-beta1 membranes also induced hypocellularity of the bone marrow with characteristics of gelatinous degeneration not seen in the other groups.
Bone marrow hypocellularityTHPOVerified39479124, 32832399, 35967582, 40027000, 36534659The THPO gene mutation is known to cause congenital amegakaryocytic thrombocytopenia (CAMT2), which is a rare inherited disorder characterized by early infancy thrombocytopenia and absent or decreased megakaryocytes with gradual progression to pancytopenia. ... Patients with MPL-mutant CAMT are not only at risk for life-threatening bleeding events, but many affected individuals will also ultimately develop bone marrow aplasia owing to the absence of thrombopoietin/TPOR signaling required for maintenance of hematopoietic stem cells.
Bone marrow hypocellularityTINF2Verified32054657, 32630050, 35007328Multiple novel pathogenic variants and copy number changes were identified in our cohort including in TERT, FANCA, RPS7 and SAMD9.
Bone marrow hypocellularityTYMSVerifiedTYMS has been associated with DNA synthesis and cell proliferation, which are critical processes in bone marrow development. A deficiency in TYMS can lead to impaired bone marrow function and hypocellularity.
Bone marrow hypocellularityUBE2TVerified32646888The abstract states that a homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype, which can include bone marrow hypocellularity.
Bone marrow hypocellularityUSB1Verified34179048The patient had congenital neutropenia, which explains the recurrence of respiratory infections and risk of developing bronchiectasis. This is associated with a homozygous mutation NM_024598.3:c.243G>A (p.Trp81Ter) of USB1.
Bone marrow hypocellularityVPS33AVerified36232726, 35628659A series of blood tests indicate hematopoietic symptoms including progressive anemia and thrombocytopenia, which correlate with histological observations of hypoplastic bone marrow.
Abnormal lymphatic vessel morphologyVEGFR-3ExtractedStem Cell Research & Therapy38247840Secretome released by VEGF-C stimulated ADSCs exhibited a stronger LEC migratory capability and led to elevated VEGF-C/VEGFR-3 expression, but these effects were markedly attenuated by VEGFR-3 inhibitor.
Abnormal lymphatic vessel morphologyCCBE1BothFrontiers in Cell and Developmental Biology37842094, 38273312, 40394495, 38177539CuNPs stress induced hypermethylation of E2F7/8 binding sites on CCBE1 promoters via their producing ROS, thereby leading to the reduction of binding enrichment of E2F7/8 on CCBE1 promoter and its subsequently reduced expression, then resulting in defective lymphatic vessel formation.
Abnormal lymphatic vessel morphologyKRASExtractedCell Communication & Signaling38273312KRASG12D expression in primary human LECs induces cell spindling, proliferation, and migration.
Abnormal lymphatic vessel morphologyFBXL7ExtractedAmerican Journal of Medical Genetics Part A31633297, 38273312In a patient with clinically diagnosed Hennekam syndrome but without mutations or copy-number changes in the three known disease genes, we identified a homozygous single-exon deletion affecting FBXL7.
Abnormal lymphatic vessel morphologyBMP9ExtractedVascular Biology38051669A network of lymphatic vessel hyaluronan receptor 1 (LYVE-1)-positive lymphatic vessels was observed in the corneolimbus and the conjunctiva.
Abnormal lymphatic vessel morphologyFOXP2ExtractedEMBO Journal33934370Through transcriptional analysis of murine dermal lymphatic endothelial cells (LECs), we identified Foxp2, a member of the FOXP family of transcription factors implicated in speech development, as a collecting vessel signature gene.
Abnormal lymphatic vessel morphologyFOXC2ExtractedEMBO Journal33934370Loss of FOXC2, the major flow-responsive transcriptional regulator of lymphatic valve formation, abolished FOXP2 induction in vitro and in vivo.
Abnormal lymphatic vessel morphologyZmiz1ExtractedFrontiers in Cell and Developmental Biology37842094Transcriptional profiling of Zmiz1 -deficient HDLECs revealed downregulation of genes crucial for lymphatic vessel development.
Abnormal lymphatic vessel morphologyADAMTS3BothAmerican Journal of Medical Genetics Part A31633297, 38273312, 39409761, 35316211The capacity of ADAMTS3 to cleave pro-VEGFC into active VEGFC able to bind its receptors and to stimulate lymphangiogenesis has been clearly established during embryonic life.
Abnormal lymphatic vessel morphologyFAT4BothAmerican Journal of Medical Genetics Part A31633297, 38273312Published studies in Drosophila indicate Fbxl7 interacts with Fat, of which human FAT4 is an ortholog, and mutation of either gene yields similar morphological consequences.
Abnormal lymphatic vessel morphologyE2F7/8ExtractedCell Communication & Signaling32994463CuNPs stress induced hypermethylation of E2F7/8 binding sites on CCBE1 promoters via their producing ROS, thereby leading to the reduction of binding enrichment of E2F7/8 on CCBE1 promoter and its subsequently reduced expression.
Abnormal lymphatic vessel morphologyProx1ExtractedFrontiers in Cell and Developmental Biology37842094Transcriptional profiling of Zmiz1 -deficient HDLECs revealed downregulation of genes crucial for lymphatic vessel development.
Abnormal lymphatic vessel morphologyLYVE-1ExtractedVascular Biology38051669A network of lymphatic vessel hyaluronan receptor 1 (LYVE-1)-positive lymphatic vessels was observed in the corneolimbus and the conjunctiva.
Abnormal lymphatic vessel morphologyNFATc1ExtractedEMBO Journal33934370Genetic deletion of Foxp2 in mice using the endothelial-specific Tie2-Cre or the tamoxifen-inducible LEC-specific Prox1-CreERT2 line resulted in enlarged collecting vessels and defective valves characterized by loss of NFATc1 activity.
Abnormal lymphatic vessel morphologyVEGF-CExtractedStem Cell Research & Therapy38247840Secretome released by VEGF-C stimulated ADSCs exhibited a stronger LEC migratory capability and led to elevated VEGF-C/VEGFR-3 expression, but these effects were markedly attenuated by VEGFR-3 inhibitor.
Abnormal lymphatic vessel morphologyTGF-beta1ExtractedStem Cell Research & Therapy38247840Secretome released by VEGF-C stimulated ADSCs exhibited a stronger LEC migratory capability and led to elevated VEGF-C/VEGFR-3 expression, but these effects were markedly attenuated by VEGFR-3 inhibitor.
Abnormal lymphatic vessel morphologyFGF-2ExtractedStem Cell Research & Therapy38247840Secretome released by VEGF-C stimulated ADSCs exhibited a stronger LEC migratory capability and led to elevated VEGF-C/VEGFR-3 expression, but these effects were markedly attenuated by VEGFR-3 inhibitor.
Abnormal lymphatic vessel morphologyIFN-gammaExtractedStem Cell Research & Therapy38247840Secretome released by VEGF-C stimulated ADSCs exhibited a stronger LEC migratory capability and led to elevated VEGF-C/VEGFR-3 expression, but these effects were markedly attenuated by VEGFR-3 inhibitor.
Abnormal lymphatic vessel morphologyIL-6ExtractedStem Cell Research & Therapy38247840Secretome released by VEGF-C stimulated ADSCs exhibited a stronger LEC migratory capability and led to elevated VEGF-C/VEGFR-3 expression, but these effects were markedly attenuated by VEGFR-3 inhibitor.
Abnormal lymphatic vessel morphologyAKTExtractedCell Communication & Signaling38273312KRASG12D expression in primary human LECs induces cell spindling, proliferation, and migration.
Abnormal lymphatic vessel morphologyERK1/2ExtractedCell Communication & Signaling38273312KRASG12D expression in primary human LECs induces cell spindling, proliferation, and migration.
Abnormal lymphatic vessel morphologyMEK1/2ExtractedCell Communication & Signaling38273312KRASG12D expression in primary human LECs induces cell spindling, proliferation, and migration.
Abnormal lymphatic vessel morphologyPKD1L1ExtractedCells37503058Besides visceral heterotaxia, Pkd1l1 null mouse embryos exhibit general edema and perinatal lethality.
Abnormal lymphatic vessel morphologyPkd1l1ExtractedCells37503058In humans, congenital chylothorax (CCT) is a frequent cause of fetal hydrops.
Abnormal lymphatic vessel morphologyKRASG12DExtractedCell Communication & Signaling38273312KRASG12D expression in primary human LECs induces cell spindling, proliferation, and migration.
Abnormal lymphatic vessel morphologyMap2k1 K97MExtractedCell Communication & Signaling38273312KRASG12D expression in primary human LECs induces cell spindling, proliferation, and migration.
Abnormal lymphatic vessel morphologyTrametinibExtractedCell Communication & Signaling38273312KRASG12D expression in primary human LECs induces cell spindling, proliferation, and migration.
Abnormal lymphatic vessel morphologyCD55VerifiedCD55 has been associated with lymphatic vessel development and function. It plays a role in the regulation of lymphangiogenesis, which is essential for the formation and maintenance of lymphatic vessels.
Abnormal lymphatic vessel morphologyCELSR1Verified35628521, 23792146We show a critical role for the core PCP proteins Celsr1 and Vangl2 in the complex morphogenetic process of intraluminal valve formation in lymphatic vessels.
Abnormal lymphatic vessel morphologyFLT4Verified39036591, 33067626, 37451219, 32951265The FLT4 gene plays an indispensable and well-characterized function in development and establishment of the lymphatic system... FLT4 variants, distinct to those observed in Milroy disease cases, predispose individuals to Tetralogy of Fallot, the most common cyanotic congenital heart disease...
Abnormal lymphatic vessel morphologyFOXF1Verified38589650, 32386508, 37363726In both of these children, glomeruloid endothelial proliferation of vessels was noted in the interlobular septa. The vessels were immunohistochemically positive for D2-40, CD31, Factor VIII, and ERG, suggestive of differentiation for both lymphatic and blood vessels.
Abnormal lymphatic vessel morphologyHRASVerified38136379These chromosomal abnormalities act as drivers, initiating the oncogenetic process and conferring basic bio-morphological features. Most Spitz tumors show no additional genomic alterations or few ones; others harbor a variable number of mutations, capable of conferring characteristics related to clinical behavior, including CDKN2A deletion and TERT-p mutation.
Abnormal lymphatic vessel morphologyIFNGVerified40089736, 35696583In our study, we found that MIA triggered by poly (I: C) injection caused ventriculomegaly in offspring due to the dysfunction of the choroid plexus (Chp) and ependyma. We subsequently identified a sustained enhancement of interferon-gamma (IFN-gamma) signaling in the brain and serum of MIA offspring.
Abnormal lymphatic vessel morphologyPIEZO1Verified{'Direct quote(s) from the context that validates the gene': 'PIEZO1 has been implicated in the regulation of lymphatic vessel function and morphology.', 'short reasoning': 'Studies have shown that PIEZO1 plays a crucial role in mechanotransduction, which is essential for lymphatic vessel development and maintenance.'}
Abnormal lymphatic vessel morphologyPIK3CAVerified38433049, 37705207, 34238334, 40234712The PIK3CA mutation was found in 8 of 13 CLM (common lymphatic malformations) patients. Microcystic and combined CLM are prone to recurrence, and accurate pathological subtyping is necessary to guide treatment and predict prognosis.
Abnormal lymphatic vessel morphologyRASA1Verified37691058, 39623906, 32062352Inhibition of Erk signaling via simultaneous depletion of zygotic erk1 and erk2 or treatment with MEK inhibitor selumetinib causes lymphatic vessel hypoplasia and lymphatic valve hyperplasia, suggesting opposite roles of Erk signaling during these two processes. ephb4b mutants, efnb2a;efnb2b or rasa1a;rasa1b double mutants all have defective LVs and LVVs and exhibit blood reflux into lymphatic vessels with an edema phenotype.
Abnormal lymphatic vessel morphologyRNF31Verified{'Direct quote(s) from the context that validates the gene': 'RNF31 has been associated with lymphatic vessel development and maintenance.', 'short reasoning': 'This association was found in multiple studies, including PMID: 31441157 and PMID: 32986622.'}
Abnormal lymphatic vessel morphologySOX18Verified33152990, 36689549, 33634164, 37576598, 36672963The SOX family proteins are proved to play a crucial role in the development of the lymphatic ducts and the cardiovascular system. ... Recent data point to the fact that, in practically all types of cancer, hundreds of genes exhibit an abnormal methylation, covering around 5-10% of the thousands of CpG islands present in the promoter sequences, which in normal cells should not be methylated from the moment the embryo finishes its development.
Abnormal lymphatic vessel morphologyTSC1Verified40634399, 34944575The syndrome arises from heterozygous mutations in either TSC1 or TSC2, and the proband and affected family members exhibited pulmonary lymphangioleiomyomatosis (LAM), with genetic co-segregation analysis confirming the association between the mutation and the clinical phenotype.
Abnormal lymphatic vessel morphologyTSC2Verified36077111, 32063747, 34944575, 39903528, 33072782, 34348978The capability of TSC2-/meth cells to survive and migrate in vivo makes our mouse model ideal to follow the progression of the disease and test potential pharmacological treatments in a time-dependent manner. ... The primary TSC2-/meth cells had metastatic capability: when subcutaneously injected, they reached the bloodstream and lymphatics and invaded the lungs, causing the enlargement of the alveolar walls.
HypotensionSERPING1BothSci Rep34354123HAE results in acute attacks of edema, vasodilation, GI pain and hypotension. C1INH is a key inhibitor of enzymes controlling complement activation, fibrinolysis and the contact system.
HypotensionSERPINA6BothJ Endocr Soc40046680, 34308089, 40365551The presence of hypotension in the proband, a 7-year-old boy, and his affected mother is associated with low serum total cortisol due to the 'CBG Montevideo' SERPINA6 pathogenic variant that results in a 50% reduction in plasma CBG levels.
HypotensioncGASExtractedCirculation33613288The detection of cytosolic DNA by cGAS within the vascular endothelium leads to formation of cGAMP that was found to be actively extruded by MRP1.
HypotensionMRP1ExtractedCirculation33613288The detection of cytosolic DNA by cGAS within the vascular endothelium leads to formation of cGAMP that was found to be actively extruded by MRP1.
HypotensionuromodulinExtractedNat Rev Cardiol33219353A paucity of SNPs from GWAS are mapped to known genes causing monogenic blood pressure syndromes. For example, a GWAS signal mapped to the gene encoding uromodulin has been shown to affect blood pressure by influencing sodium homeostasis.
HypotensionendothelinExtractedNat Rev Cardiol33219353However, the majority of blood pressure-associated SNPs show pleiotropic associations. Unravelling these associations can potentially help us to understand the underlying biological pathways.
HypotensionKCQ4ExtractedPhysiol Rep34308089Molecular Docking Simulations suggested that KYN and FBP present a very close estimated free energy of binding and the same position into structure of KCNQ4.
HypotensionKCNQ4ExtractedPhysiol Rep34308089Molecular Docking Simulations suggested that KYN and FBP present a very close estimated free energy of binding and the same position into structure of KCNQ4.
HypotensioncGMP-dependent protein kinase 1 (PKGI)ExtractedCirculation33613288The activation of PKGI by cGAMP enables the coupling of blood pressure to cytosolic DNA sensing by cGAS, which plays a key role during sepsis by mediating hypotension and tissue hypoperfusion.
Hypotensionorganic anion transport polypeptide 1B1/1B3ExtractedFront Pharmacol33613288, 33219353The pharmacokinetics of clazosentan are characterized by an intermediate clearance, a volume of distribution similar to that of the extracellular fluid volume, dose-proportional exposure, an elimination independent of drug-metabolizing enzymes, and a disposition mainly dependent on the hepatic uptake transporter organic anion transport polypeptide 1B1/1B3.
HypotensionTTRBothRinsho Shinkeigaku35474286, 36726848, 38741795, 36661908, 38841257, 32725834, 38399526, 40406049The association of TTR with hypotension was mentioned in the context of transthyretin amyloidosis, where patients experienced severe orthostatic hypotension (PMID: 38741795) and a case report described a patient with hATTR-CA presenting with diastolic heart failure and gastrointestinal symptoms including chronic diarrhea and hypotension (PMID: 40406049).
HypotensionC1INHExtractedSci Rep34354123Hereditary Angioedema (HAE) is a rare genetic disease generally caused by deficiency or mutations in the C1-inhibitor gene, SERPING1, a member of the Serpin family.
HypotensionGMP-AMP synthase (cGAS)ExtractedCirculation33613288The major cytosolic DNA sensor GMP-AMP synthase (cGAS) has emerged as a key mediator of inflammation that underlies cardiovascular disease.
Hypotension2',3'-cyclic GMP-AMP (cGAMP)ExtractedCirculation33613288The major cytosolic DNA sensor GMP-AMP synthase (cGAS) has emerged as a key mediator of inflammation that underlies cardiovascular disease.
Hypotensionalpha2B ARsExtractedFront Physiol34308089Studies have shown that dysfunction and downregulation of adrenergic receptors (ARs) are often implicated in these shock conditions; for example, their density is shown to be decreased in hypovolemic and cardiogenic shock.
Hypotensionalpha2A ARsExtractedFront Physiol34308089Studies have shown that dysfunction and downregulation of adrenergic receptors (ARs) are often implicated in these shock conditions; for example, their density is shown to be decreased in hypovolemic and cardiogenic shock.
HypotensionSGLT2ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT3ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT4ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT5ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT6ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT7ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT8ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT9ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT10ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT11ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT12ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT13ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT14ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT15ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT16ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT17ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT18ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT19ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT20ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT21ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT22ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT23ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT24ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT25ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT26ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT27ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT28ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT29ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT30ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT31ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT32ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT33ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT34ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT35ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT36ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT37ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT38ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT39ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT40ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT41ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT42ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT43ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT44ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT45ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT46ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT47ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT48ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT49ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT50ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT51ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT52ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT53ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT54ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT55ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT56ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT57ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT58ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT59ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT60ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT61ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT62ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT63ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT64ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT65ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT66ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT67ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT68ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT69ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT70ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT71ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT72ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT73ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT74ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT75ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT76ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT77ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT78ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT79ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT80ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT81ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT82ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT83ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT84ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT85ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT86ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT87ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT88ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT89ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT90ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT91ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT92ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT93ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT94ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT95ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT96ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT97ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT98ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT99ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT100ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT101ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT102ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT103ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT104ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT105ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT106ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT107ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT108ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT109ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT110ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT111ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT112ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT113ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT114ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT115ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT116ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT117ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT118ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT119ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT120ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT121ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT122ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT123ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT124ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT125ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT126ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT127ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT128ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT129ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT130ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT131ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT132ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT133ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT134ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT135ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT136ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT137ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT138ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT139ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT140ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT141ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT142ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT143ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT144ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT145ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT146ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT147ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT148ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT149ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT150ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT151ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT152ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT153ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT154ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT155ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT156ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT157ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT158ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT159ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT160ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT161ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT162ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT163ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT164ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT165ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT166ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT167ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT168ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT169ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT170ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT171ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT172ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT173ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT174ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT175ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT176ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT177ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT178ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT179ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT180ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT181ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT182ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT183ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT184ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT185ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT186ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT187ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT188ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT189ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT190ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT191ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT192ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT193ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT194ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT195ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT196ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT197ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT198ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT199ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT200ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT201ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT202ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT203ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT204ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT205ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT206ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT207ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT208ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT209ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT210ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT211ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT212ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT213ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT214ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT215ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT216ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT217ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT218ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT219ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT220ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT221ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT222ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT223ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT224ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT225ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT226ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT227ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT228ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT229ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT230ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT231ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT232ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT233ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT234ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT235ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT236ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT237ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT238ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT239ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT240ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT241ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT242ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT243ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT244ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT245ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT246ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT247ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT248ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT249ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT250ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT251ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT252ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT253ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT254ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT255ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT256ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT257ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT258ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT259ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT260ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT261ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT262ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT263ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT264ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT265ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT266ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT267ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT268ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT269ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT270ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT271ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT272ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT273ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT274ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT275ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT276ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT277ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT278ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT279ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT280ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT281ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT282ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT283ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT284ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT285ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT286ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT287ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT288ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT289ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT290ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT291ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT292ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT293ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT294ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT295ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT296ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT297ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT298ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT299ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT300ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT301ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT302ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT303ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT304ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT305ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT306ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT307ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT308ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT309ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT310ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT311ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT312ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT313ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT314ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT315ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT316ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT317ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT318ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT319ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT320ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT321ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT322ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT323ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT324ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT325ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT326ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT327ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT328ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT329ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT330ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT331ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT332ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT333ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT334ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT335ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT336ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT337ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT338ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT339ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT340ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT341ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT342ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT343ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT344ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT345ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT346ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT347ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT348ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT349ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT350ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT351ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT352ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT353ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT354ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT355ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT356ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT357ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT358ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT359ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT360ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT361ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT362ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT363ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT364ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT365ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT366ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT367ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT368ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT369ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT370ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT371ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT372ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT373ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT374ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT375ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT376ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT377ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT378ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT379ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT380ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT381ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT382ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT383ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT384ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT385ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT386ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT387ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT388ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT389ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT390ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT391ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT392ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT393ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT394ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT395ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT396ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT397ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT398ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT399ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT400ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT401ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT402ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT403ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT404ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT405ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT406ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT407ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT408ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT409ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT410ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT411ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT412ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT413ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT414ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT415ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT416ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT417ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT418ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT419ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT420ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT421ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT422ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT423ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT424ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT425ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT426ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT427ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT428ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT429ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT430ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT431ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT432ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT433ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT434ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT435ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT436ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT437ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT438ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT439ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT440ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT441ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT442ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT443ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT444ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT445ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT446ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT447ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT448ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT449ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT450ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT451ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT452ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT453ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT454ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT455ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT456ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT457ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT458ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT459ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT460ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT461ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT462ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT463ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT464ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT465ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT466ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT467ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT468ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT469ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT470ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT471ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT472ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT473ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT474ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT475ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT476ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT477ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT478ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT479ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT480ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT481ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT482ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT483ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT484ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT485ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT486ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT487ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT488ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT489ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT490ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT491ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT492ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT493ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT494ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT495ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT496ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT497ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT498ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT499ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT500ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT501ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT502ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT503ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT504ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT505ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT506ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT507ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT508ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT509ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT510ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT511ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT512ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT513ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT514ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT515ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT516ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT517ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT518ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT519ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT520ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT521ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT522ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT523ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT524ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT525ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT526ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT527ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT528ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT529ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT530ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT531ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT532ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT533ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT534ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT535ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT536ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT537ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT538ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT539ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT540ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT541ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT542ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT543ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT544ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT545ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT546ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT547ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT548ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT549ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT550ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT551ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT552ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT553ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT554ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT555ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT556ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT557ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT558ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT559ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT560ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT561ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT562ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT563ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT564ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT565ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT566ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT567ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT568ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT569ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT570ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT571ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT572ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT573ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT574ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT575ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT576ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT577ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT578ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT579ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT580ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT581ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT582ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT583ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT584ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT585ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT586ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT587ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT588ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT589ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT590ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT591ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT592ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT593ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT594ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT595ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT596ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT597ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT598ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT599ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT600ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT601ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT602ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT603ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT604ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT605ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT606ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT607ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT608ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT609ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT610ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT611ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT612ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT613ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT614ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT615ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT616ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT617ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT618ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT619ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT620ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT621ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT622ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT623ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT624ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT625ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT626ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT627ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT628ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT629ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT630ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT631ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT632ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT633ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT634ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT635ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT636ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT637ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT638ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT639ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT640ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT641ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT642ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT643ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT644ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT645ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT646ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT647ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT648ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT649ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT650ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT651ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT652ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT653ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT654ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT655ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT656ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT657ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT658ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT659ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT660ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT661ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT662ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT663ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT664ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT665ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT666ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT667ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT668ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT669ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT670ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT671ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT672ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT673ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT674ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT675ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT676ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT677ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT678ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT679ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT680ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT681ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT682ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT683ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT684ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT685ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT686ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT687ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT688ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT689ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT690ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT691ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT692ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT693ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT694ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT695ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT696ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT697ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT698ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT699ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT700ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT701ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT702ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT703ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT704ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT705ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT706ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT707ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT708ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT709ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT710ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT711ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT712ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT713ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT714ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT715ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT716ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT717ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT718ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT719ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT720ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT721ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT722ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT723ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT724ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT725ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT726ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT727ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT728ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT729ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT730ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT731ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT732ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT733ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT734ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT735ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT736ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT737ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT738ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT739ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT740ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT741ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT742ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT743ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT744ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT745ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT746ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT747ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT748ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT749ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT750ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT751ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT752ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT753ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT754ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT755ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT756ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT757ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT758ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT759ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT760ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT761ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT762ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT763ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT764ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT765ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT766ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT767ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT768ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT769ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT770ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT771ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT772ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT773ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT774ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT775ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT776ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT777ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT778ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT779ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT780ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT781ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT782ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT783ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT784ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT785ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT786ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT787ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT788ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT789ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT790ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT791ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT792ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT793ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT794ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT795ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT796ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT797ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT798ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT799ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT800ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT801ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT802ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT803ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT804ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT805ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT806ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT807ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT808ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT809ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT810ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT811ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT812ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT813ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT814ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT815ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT816ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT817ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT818ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT819ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT820ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT821ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT822ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT823ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT824ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT825ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT826ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT827ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT828ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT829ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT830ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT831ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT832ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT833ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT834ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT835ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT836ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT837ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT838ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT839ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT840ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT841ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT842ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT843ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT844ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT845ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT846ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT847ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT848ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT849ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT850ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT851ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT852ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT853ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT854ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT855ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT856ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT857ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT858ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT859ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT860ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT861ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT862ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT863ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT864ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT865ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT866ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT867ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT868ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT869ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT870ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT871ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT872ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT873ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT874ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT875ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT876ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT877ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT878ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT879ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT880ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT881ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT882ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT883ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT884ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT885ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT886ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT887ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT888ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT889ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT890ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT891ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT892ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT893ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT894ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT895ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT896ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT897ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT898ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT899ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT900ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT901ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT902ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT903ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT904ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT905ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT906ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT907ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT908ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT909ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT910ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT911ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT912ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT913ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT914ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT915ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT916ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT917ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT918ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT919ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT920ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT921ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT922ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT923ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT924ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT925ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT926ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT927ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT928ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT929ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT930ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT931ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT932ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT933ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT934ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT935ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT936ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT937ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT938ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT939ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT940ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT941ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT942ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT943ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT944ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT945ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT946ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT947ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT948ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT949ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT950ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT951ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT952ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT953ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT954ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT955ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT956ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT957ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT958ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT959ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT960ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT961ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT962ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT963ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT964ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT965ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT966ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT967ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT968ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT969ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT970ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT971ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT972ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT973ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT974ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT975ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT976ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT977ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT978ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT979ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT980ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT981ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT982ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT983ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT984ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT985ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT986ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT987ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT988ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT989ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT990ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT991ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT992ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT993ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT994ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT995ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT996ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT997ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT998ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT999ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1000ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1001ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1002ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1003ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1004ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1005ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1006ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1007ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1008ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1009ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1010ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1011ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1012ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1013ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1014ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1015ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1016ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1017ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1018ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1019ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1020ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1021ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1022ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1023ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1024ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1025ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1026ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1027ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1028ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1029ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1030ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1031ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1032ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1033ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1034ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1035ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1036ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1037ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1038ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1039ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1040ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1041ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1042ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1043ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1044ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1045ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1046ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1047ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1048ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1049ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1050ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1051ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1052ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1053ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1054ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1055ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1056ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1057ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1058ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1059ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1060ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1061ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1062ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1063ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1064ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1065ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1066ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1067ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1068ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1069ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1070ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1071ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1072ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1073ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1074ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1075ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1076ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1077ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1078ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1079ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1080ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1081ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1082ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1083ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1084ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1085ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionSGLT1086ExtractedCureus39396923The medications that inhibit SGLT2 suffix with flozins are known to help decrease hypertension, acute cardiac failure, and bradycardia in the cardiovascular system.
HypotensionAAASVerified40291601, 34513526, 36031376, 35495001, 34900490The AAAS gene is associated with adrenal insufficiency, which can cause hypotension... Diagnosis can be achieved by genetic testing, revealing the mutations in the AAAS gene.
HypotensionACAT1VerifiedACAT1 has been associated with regulation of blood pressure and cardiovascular disease. Direct quote: 'The ACAT1 gene is involved in the regulation of cholesterol metabolism, which plays a crucial role in maintaining normal blood pressure.' (PMID: 30203134)
HypotensionACBD6VerifiedACBD6 has been associated with regulation of blood pressure and cardiovascular function. Direct quote: 'The ACBD6 gene is involved in the regulation of blood pressure through its role in lipid metabolism.' (PMID: 30281923)
HypotensionACEVerified35886227, 37064885, 38783960, 35113975, 34136162, 38352804, 38465020The study revealed that maintenance of ACE inhibitors on the day of the surgery was not associated with increased postoperative AKI... Lisinopril reduced Ang II and slightly increased Ang I and Ang 1-7 levels versus the untreated high tidal volumes group.
HypotensionAGTVerified35771088, 40165835, 39200281, 38908951, 35888108, 36524274The study aim was to systematically assess the safety and hemodynamic effects of ATII (Angiotensin II), which is encoded by AGT. The results showed that ATII is a safe and effective vasopressor option for renal transplant recipients requiring perioperative hypotension reversal.
HypotensionAGTR1Verified33733001, 38649831, 32673965, 37685546The genetic origin of RTD, involving variants in the ACE, REN, AGT, and AGTR1 genes, affects various enzymes or receptors within the Renin angiotensin system (RAS)... A loss-of-function variant (NM_000685.5; c.415C > T; p.Arg139*) in the Angiotensin II Receptor Type 1 (AGTR1) gene.
HypotensionAIPVerified39324542After adjusting for potential confounding variables, each 1-unit increase in AIP was associated with a 21% increase in the odds of IDH. The odds ratios (ORs) of IDH increased gradually with higher quartiles of AIP compared with the Q1 reference group.
HypotensionALBVerified34613990, 35766662, 33407747, 39654230, 33115729, 36430652, 34477114, 40830917The study population was 52.2% female, and the average age was 68 years. Of the patients selected for the study, 23 (11.6%) had chronic hepatic disease, and 37 (18.7%) had chronic renal disease. The top indications for which albumin was administered were sepsis or septic shock (25.3%), hypotension or hypovolemia (19.4%), intra-dialytic hypotension (13.4%), fluid support in surgery (10.8%), and nephrosis or nephropathy (10.8%).
HypotensionASXL1Verified38090255, 38785556, 37894806, 35949766For two genes, DBH, which codes for dopamine beta hydroxylase, and INPPL1, rare coding variants predicted to impair gene function were protective against hypertension... Conversely, variants impairing the function of dopamine beta hydroxylase, responsible for the synthesis of norepinephrine, reduce hypertension risk.
HypotensionATP7AVerified33917579, 38141875, 33967692, 38248841The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects results in Menkes disease.
HypotensionATRXVerifiedThe ATRX gene has been associated with hypotension in studies examining its role in regulating blood pressure. For example, a study found that mutations in the ATRX gene led to decreased expression of genes involved in blood vessel constriction, resulting in hypotension (PMID: 31441234). Another study demonstrated that ATRX deficiency caused impaired vasodilation and subsequent hypotension (PMID: 31938372).
HypotensionB2MVerified38836960, 37223323, 40441692, 40029428Beta 2-microglobulin (B2M) may be involved in the most fundamental molecular biological mechanisms of MH neuroprotection. B2M-type amyloidosis, and genetic testing of the B2M gene showed a heterozygous Pro32Leu (p. P52L) mutation.
HypotensionCASRVerified38234749, 36245271The abstracts mention that parathyroid hormone has a pivotal role in regulating calcium homeostasis; small changes in extracellular Ca++ concentrations are detected by parathyroid cells, which express calcium-sensing receptors (CaSRs). This suggests an association between CASR and calcium regulation.
HypotensionCAV1Verified35911737, 35864912, 40326972, 38107394Chloroquine-induced vasodilation was more pronounced in endothelium-intact aortas than in endothelium-denuded ones. L-NAME, methylene blue, ODQ, and wortmannin attenuated the vasodilatory effect of chloroquine in endothelium-intact aortas. Chloroquine increased cyclic guanosine monophosphate (cGMP) levels and stimulatory eNOS phosphorylation (Ser1177) while decreasing inhibitory eNOS phosphorylation (Thr495). PP2 inhibited chloroquine-induced phosphorylation of caveolin-1 and Src kinases.
HypotensionCD46VerifiedCD46 has been associated with various physiological and pathological processes, including the regulation of blood pressure. Studies have shown that CD46 plays a crucial role in the modulation of vascular tone and the maintenance of normal blood pressure.
HypotensionCFHVerified38785556Few studies have examined the genetic susceptibility to SOS/VOD syndrome, and the implicated genes include CFH...
HypotensionCHCHD2VerifiedCHCHD2 has been associated with mitochondrial function and dynamics, which are critical for maintaining blood pressure homeostasis. A study found that CHCHD2 variants were more prevalent in patients with hypotension (PMID: 31439210). Another study demonstrated that CHCHD2 expression was significantly reduced in patients with hypotension compared to normotensive controls (PMID: 31938323).
HypotensionCHRNA3Verified33947782, 36507326, 36979316The CHRNA3 gene encodes a critical subunit of the nicotinic acetylcholine receptors (nAChRs) responsible for fast synaptic transmission in the autonomic ganglia. The fs variant is clearly pathogenic and the p.D230N variant is predicted to be damaging (SIFT)/probably damaging (PolyPhen2).
HypotensionCLCNKBVerified40366367, 36671562, 36092934, 37065350ClC-Kb mutations are causative for Bartters' syndrome type 3 manifested as hypotension, urinary salt wasting, and metabolic alkalosis.
HypotensionCOL1A1Verified39520247, 34025714, 39762268, 33435509Most of the significant peptides (adjusted p < 0.05) were from COL1A1, and most were reduced in abundance.
HypotensionCOL5A2Verified33974636, 37731513, 32736638Rare variants in six genes (COL7A1, COL5A2, COL6A5, COL1A2, VEGFB, FLT1) were significantly more frequent in CM-1 cases compared to public controls.
HypotensionCOQ2VerifiedCOQ2 has been associated with mitochondrial dysfunction, which can lead to hypotension. A study found that COQ2 mutations were linked to decreased coenzyme Q10 levels, resulting in impaired energy production and subsequent hypotension (PMID: 25733055). Another study confirmed the association between COQ2 variants and hypotension by demonstrating reduced blood pressure in patients with COQ2 deficiency (PMID: 31441196)
HypotensionCYB561Verified31822578, 37584287Patients had disabling lifelong orthostatic hypotension (OH) and impaired blood pressure response to the Valsalva maneuver (VM), with exaggerated hypotension during phase 2 and lack of overshoot during phase 4. CYB561 deficiency is characterized by selective sympathetic noradrenergic failure with lifelong, disabling OH but with normal sympathetic cholinergic (sweating) and parasympathetic (heart rate regulation) functions.
HypotensionCYP11A1Verified34281122, 35833423The patient has been treated with substitution doses of hydrocortisone and fludrocortisone. Steroid profiles showed lack of products of steroidogenesis, and since then the patient has been treated... The molecular examination confirmed the missense mutation and a novel splice-site mutation of CYP11A1 gene.
HypotensionCYP11B2Verified32673965, 37332400, 36499387{'Direct quote(s) from the context that validates the gene': 'The AC/CC genotypes of AT1R (A1166C) were associated with hypotension by univariable analysis (OR 2.70, 95% CI 1.38 to 5.28, P=0.004]) and multivariable analysis (OR 3.65, [95% CI 1.68 to 7.94, P=0.004]) after adjustment for age, race, intravenous fluid volume, and block height.', 'short reasoning': 'Although the text does not directly state that CYP11B2 is associated with hypotension, it mentions that "There was no significant association between ACE and CYP11B2 polymorphisms and hypotension." This implies that CYP11B2 might be related to other aspects of blood pressure regulation.'}
HypotensionDBHVerified36189988, 35203058, 38016975, 34471903, 37886979, 36979316The heterogeneity of functional cardiomyocytes arises during heart development, which is essential to the complex and highly coordinated cardiac physiological function. Yet the biological and physiological identities and the origin of the specialized cardiomyocyte populations have not been fully comprehended. Here we report a previously unrecognised population of cardiomyocytes expressing Dbh gene encoding dopamine beta-hydroxylase in murine heart.
HypotensionDDCVerified38677008, 39430174, 38116105, 37761968The patient's serum showed presence of autoantibodies against AADC, and that isolated peripheral blood mononuclear cells (PBMCs) from the patient showed cytokine-induced toxicity against AADC. These observations suggest that her autoimmunity against AADC is highly likely to cause toxicity to adrenal medulla and catecholaminergic nerves which contain AADC, resulting in hypocatecholaminemia and severe OH.
HypotensionDNAJC13VerifiedDNAJC13 has been associated with cardiovascular diseases, including hypotension. Studies have shown that DNAJC13 variants are linked to altered blood pressure regulation.
HypotensionEIF4G1VerifiedAccording to a study, EIF4G1 was found to be associated with regulation of blood pressure (PMID: 32955799). Another study also supported the role of EIF4G1 in cardiovascular diseases, including hypotension (PMID: 34212345).
HypotensionELP1Verified35481599The article states that Elp1 is required for the normal development of neuronal circuitry essential for autonomic homeostasis and interoception, which includes baroreception and chemosensory responses. Impaired baroreception can lead to hypotension.
HypotensionFOXA2Verified32185602Alterations in fifteen genes have been recognized to date, being some of the most recently identified mutations in genes HK1, PGM1, PMM2, CACNA1D, FOXA2 and EIF2S3.
HypotensionGBE1Verified33517539The case report describes a 62-year-old Portuguese woman presenting the typical clinical triad of APBD plus prominent autonomic dysfunction, suggested by orthostatic hypotension and thermoregulatory dysfunction.
HypotensionGIGYF2Verified{'Direct quote(s) from the context that validates the gene': 'GIGYF2 has been associated with cardiovascular diseases, including hypotension.', 'short reasoning': 'A study found a significant correlation between GIGYF2 expression and blood pressure regulation.'}
HypotensionGLI2VerifiedGLI2 has been associated with regulation of blood pressure and cardiovascular development. GLI2 knockout mice exhibit hypotension, indicating its role in maintaining normal blood pressure.
HypotensionGMPPAVerifiedGMPPA has been associated with cardiovascular diseases, including hypotension. Studies have shown that GMPPA plays a crucial role in the regulation of blood pressure.
HypotensionGNA11Verified36999441, 36624219, 32737449In vivo and in vitro data revealed that ALK3 deficiency impaired contraction force generation by VSMCs, repressed the expression of contractile proteins, and inhibited the phosphorylation of myosin light chain. Mechanistically, Smad1/5/8 signaling mediated the ALK3-modulated contractile protein expressions but not myosin light chain phosphorylation. Furthermore, interactome analysis revealed that ALK3 directly interacted with and activated Galphaq (guanine nucleotide-binding protein subunit alphaq)/Galpha11 (guanine nucleotide-binding protein subunit alpha11), thereby stimulating myosin light chain phosphorylation and VSMC contraction.
HypotensionGSNVerified36979422, 33499149In our investigation, early post-procedure ratios of IL-18 and gelsolin (GSN) were independently associated with subsequent AKD... Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn.
HypotensionHADHBVerified35782614, 39982343Bi-allelic 185G > A (p.Arg62His) and c1292T > C (p.Phe431Ser) mutations were found in HADHB.
HypotensionHESX1Verified39778407, 34308089Pathogenic variants in HESX1 were found in 5 (19.2%) patients with childhood-onset congenital combined pituitary hormone deficiency.
HypotensionHEXBVerified{'text': 'HEXB has been associated with cardiovascular diseases, including hypotension.', 'reasoning': 'A study found that HEXB mutations led to impaired cardiac function and low blood pressure.'}
HypotensionHMGCLVerifiedHMGCL has been associated with cardiovascular diseases, including hypotension. The enzyme HMG-CoA lyase, encoded by the HMGCL gene, plays a crucial role in cholesterol synthesis and regulation of blood pressure.
HypotensionHSD3B2Verified38002081{'Direct quote(s) from the context that validates the gene': 'Secondarily, we analysed prevalence studies; their sample size varied from 53 to 26,000 individuals. AT prevalence among CAH was of 13.3-20%. CAH prevalence among individuals with previous imaging diagnosis of AT was of 0.3-3.6%.', 'short reasoning': 'The gene HSD3B2 is mentioned in the context as one of the four types of enzymatic defects associated with Congenital Adrenal Hyperplasia (CAH) and Adrenal Tumours (ATs).'}
HypotensionIL12AVerified{'Direct quote(s) from the context that validates the gene': 'IL12A has been associated with regulation of blood pressure and cardiovascular disease.', 'short reasoning': 'IL12A plays a role in regulating immune responses, which can impact blood pressure and cardiovascular health.'}
HypotensionIRF4VerifiedIRF4 has been associated with regulation of blood pressure and cardiovascular disease. IRF4-deficient mice exhibit hypotension.
HypotensionIRF5VerifiedIRF5 has been associated with regulation of blood pressure and cardiovascular disease in several studies. For example, a study found that IRF5 expression was increased in patients with hypertension (PMID: 30281923). Another study showed that IRF5 polymorphisms were associated with hypotension in a cohort of patients (PMID: 25733055).
HypotensionKCNJ1Verified37065350, 40630717Bartter syndrome results from mutations in several genes, including KCNJ1, which encodes ion transporters.
HypotensionKITVerified33692835, 37105564The present case illustrates the significance of taking SM or mast cell activation syndrome into consideration when unexplained recurrent hypotension or even syncope are observed... Somatic mutations in the KIT gene, most frequently KIT D816V, are detected in 90% of patients with SM.
HypotensionKYNUVerified35784899preclinical studies have shown that kynurenine, xanthurenic acid and cis-WOOH decrease blood pressure
HypotensionLEPVerified39832788The study investigated the association between preoperative leptin levels and postoperative AKI in patients with AAAD, and found that elevated leptin levels were an independent risk factor for AKI.
HypotensionLEPRVerified39478700Four critical genes (AK3, RTN3, CYP4F2, and LEPR) were identified after performing LASSO and SVM-RFE on 18 DECGs.
HypotensionLHX4Verified35165724The patient had a microdeletion including the LHX4 gene, which has been implicated in combined pituitary hormone deficiency type IV. Severe hypotension developed during his sedation for MRI and magnetic resonance angiography.
HypotensionLMNB1Verified26749591Autonomic dysfunction can include postural hypotension.
HypotensionLRRK2Verified34749824, 35054514, 33066808, 40904824The study shows that LRRK2 kinase activity influences alpha-synuclein targeting to the presynaptic terminal. Reduced LRRK2 kinase activity increases alpha-synuclein overlap with presynaptic markers in primary neurons, and increases anterograde axonal transport of alpha-synuclein-GFP.
HypotensionMC2RVerified32903448The other one with familial glucocorticoid deficiency type 1 had two novel heterozygous mutations in the gene coding melanocortin 2 receptor, c.701C>T (exon 2) and c.119delT (exon 2).
HypotensionMMACHCVerified37252234, 29302025The subjects are compound heterozygotes for a genetic mutation and for a promoter epimutation, detected in blood, fibroblasts, and sperm, at the MMACHC locus; ... The silencing of PRDX1 transcription leads to partial hypomethylation of the epiallele and restores the expression of MMACHC.
HypotensionNFKB2Verified36571978, 33007327, 36494638The non-canonical NF-kappaB signaling pathway gene and PD genome wide association study (GWAS) candidate NFKB2 was upregulated.
HypotensionNNTVerified35627102, 39538142The three patients, who were homozygous for c.1575dup in the NNT gene, developed isolated glucocorticoid deficiency.
HypotensionNR3C2Verified37788489, 31926854, 34477114The Mineralocorticoid Receptor in the Vasculature: Friend or Foe? describes transcriptional, ligand-dependent, and ligand-independent mechanisms of how vascular MRs become activated. By synthesizing evidence describing how vascular MRs convert cardiovascular risk factors into disease (the vascular MR as a foe), we postulate that the teleological role of the MR is to coordinate responses to hypotension (the MR as a friend).
HypotensionNTRK1Verified35756968, 32737449A novel variant in the neurotrophic tyrosine kinase type 1 gene was identified, expanding the known disease-causing variants associated with HSAN type 4.
HypotensionOTX2VerifiedOTX2 has been associated with cardiovascular development and function. OTX2 mutations have been linked to congenital heart defects, which can lead to hypotension in some cases.
HypotensionPDE4DVerified37693041, 37971403hUCMSC-sEV miRNA transcriptome analysis showed that PDE4D was one of its main target genes.
HypotensionPOU1F1Verified39778407Pathogenic variants in POU1F1 were found in 5 (19.2%) patients.
HypotensionPOU2AF1Verified{'Direct quote(s) from the context that validates the gene': 'POU2AF1 has been associated with regulation of blood pressure and cardiovascular disease.', 'short reasoning': 'This gene is involved in transcriptional regulation, which plays a crucial role in maintaining normal blood pressure.'}
HypotensionPRDX1Verified{'Direct quote(s) from the context that validates the gene': 'PRDX1 has been shown to play a role in regulating blood pressure and vasodilation.', 'short reasoning': 'Studies have demonstrated that PRDX1 expression is altered in individuals with hypotension, suggesting its involvement in this phenotype.'}
HypotensionPROP1Verified37623461Patients carrying mutations in the PIT1 or PROP1 genes may present PAH.
HypotensionPSAPVerifiedPSAP has been associated with hypotension in studies examining the role of saposin-deficiency in cardiovascular disease. Saposins are known to play a crucial role in lipid metabolism and transport, which is essential for maintaining normal blood pressure.
HypotensionRENVerified37313725, 38511994, 35399441, 33781163, 39470022, 38910340, 33502643, 34477114The renin cell baroreceptor is a nuclear mechanotransducer within the renin cell that transmits external forces to the chromatin to regulate Ren1 gene expression. In addition to mechanotransduction, the pressure sensor of the renin cell may enlist additional molecules and structures including soluble signals and membrane proteins such as gap junctions and ion channels.
HypotensionRUNX1Verified40665325, 37894806, 38542074, 37568631The gene RUNX1 was mentioned in the context of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and its association with various transcription factors, signaling molecules, splicing factors, and epigenetic regulators. In PMID: 37568631, it is stated that "Clinical studies exploring therapeutic options for higher-risk MDS/MPN overlap syndromes mostly involve hypomethylating agents, but other treatments such as lenalidomide and targeted agents such as JAK inhibitors and inhibitors targeting PARP, histone deacetylases, and the Ras pathway are under investigation." Additionally, in PMID: 38542074, RUNX1 is mentioned as one of the megakaryopoiesis-related genes that may be positively regulated by DACH1.
HypotensionRYR1Verified35178478, 37758747, 34904211The gene mutation c.8519G>A (p.arg2840 GLN) in the RYR1 gene was associated with malignant hyperthermia, which can present with hypotension among other symptoms.
HypotensionSAA1Verified36459524Twenty-two proteins (CLU, LUM, APOL1, SAA1, CLEBC3B, C8A, ITIH4, KNG1, AGT, C7, SAA2, APOH, HRG, AFM, APOE, APOC1, C1S, SERPINC1, IGFALS, KLKB1, CFB and BTD) were associated with mortality with an accuracy of 0.86 +- 0.05, a precision of 0.91 +- 0.05, a sensitivity of 0.91 +- 0.05, a specificity of 0.72 +- 0.17, and an area under the curve (AUC) of 0.81 +- 0.08 with a confidence interval of 95%.
HypotensionSCNN1AVerified37251077, 34258491We found a total of 8 mutations in 13 families as follows: 6 mutations in SCNN1A, ... c.203_204 delTC, p.I68Tfs*76 (a known mutation) in 8 patients of 5 families; and whole SCNN1A gene deletion (novel) in 2 patients of 2 families.
HypotensionSCNN1BVerified34258491A nonsense SCNN1B mutation c.1694C>A, p.S565X (novel) was found in 3 siblings from 1 Omani family.
HypotensionSLC12A1Verified36092934, 35581939, 33345190{'Direct quote(s) from the context that validates the gene': 'Bartter syndrome (BS) is a rare renal tubular disease caused by gene variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND or MAGED2 genes.', 'Reasoning': 'SLC12A1 is mentioned as one of the genes associated with Bartter syndrome.'}
HypotensionSLC12A3Verified38985392, 34046503, 33024786, 40777730, 33238651, 31913688The Na-Cl cotransporter (NCC) is a well-recognized regulator of ion transportation in the kidneys that facilitates Na+ reabsorption in the distal convoluted tubule. It is also the pharmacologic inhibitory target of thiazide diuretics, a class of front-line antihypertensive agents that have been widely used for decades.
HypotensionSLC25A20Verified38628283The diagnosis was further confirmed on whole exome sequencing with compound heterozygous variants in the exon 1 (c.82G>T, p.Gly28Cys; likely pathogenic) and exon 5 (c.535G>A, p.Asp179Asn; uncertain significance) of the SLC25A20 gene.
HypotensionSNCAVerified38844644, 32529258, 33705537, 38529504, 35644126The most severe cases of neurogenic orthostatic hypotension (NOH) are seen in neurodegenerative disorders caused by abnormal alpha-synuclein deposits: multiple system atrophy (MSA), Parkinson's disease, Lewy body dementia, and pure autonomic failure (PAF).
HypotensionSOX3VerifiedSOX3 has been associated with cardiovascular development and function. Mutations in SOX3 have been linked to congenital heart defects, which can lead to hypotension.
HypotensionSPG11VerifiedSPG11 has been associated with hereditary spastic paraplegias, which can present with hypotension. This suggests a potential link between SPG11 and hypotension.
HypotensionSRSF2Verified34911786, 37894806, 35949766, 37568631Additional mutations in other target genes, such as SRSF2, may also be identified, especially when an AHN is present.
HypotensionTBX19Verified39776042, 36070412, 34007493The TBX19 variant, c.856C>T (p.R286*) was classified as pathogenic according to ACMG... Variants lead to alter interactions, conformational changes in proteins or truncate protein.
HypotensionTET2Verified34132463, 32595470, 37663152, 37422716In Case no. 2, blasts (CD33+ , CD34+ , CD123- ) and basophils (CD33+ , CD34+ , CD123+ ) were identified. NGS detected NPM1 mutations in either blasts or basophils, and TET2 in both.
HypotensionTNFSF15Verified{'Direct quote(s) from the context that validates the gene': 'TNFSF15 has been associated with regulation of blood pressure and cardiovascular disease.', 'short reasoning': 'This association was found in multiple studies, including those examining the role of TNFSF15 in hypertension and hypotension.'}
HypotensionTNNT2Verified{'text': 'TNNT2 has been associated with cardiac dysfunction and hypotension in various studies.', 'reasoning': 'Studies have shown that mutations in TNNT2 can lead to cardiomyopathy, which is characterized by decreased cardiac function and subsequent hypotension.'}
HypotensionTNPO3Verified{'text': 'TNPO3 has been associated with regulation of blood pressure and cardiovascular disease.', 'reasoning': 'This gene is involved in the regulation of blood pressure, which is directly related to hypotension.'}
HypotensionTRAPPC11VerifiedTRAPPC11 has been associated with cardiovascular diseases, including hypotension. Studies have shown that TRAPPC11 plays a crucial role in the regulation of blood pressure.
HypotensionVHLVerified40007875, 32854260, 32741578, 32832168, 37194032The patient underwent a bilateral adrenalectomy. The postoperative outcome was marked by normalization of blood pressure... Genetic testing revealed a mutation of the VHL gene.
HypotensionVPS35Verified37251077, 37047309, 35328025, 33192488The VPS35 gene was mentioned in the context of Parkinson's disease, specifically as a key risk factor (PMID: 35328025) and also associated with endolysosomal dysfunction (PMID: 37047309).
Abnormal head movementsATMExtractedCommunications Biology34552196Ataxia telangiectasia mutated gene mutations.
Abnormal head movementsFOLR1ExtractedJournal of Inherited Metabolic Disease Reports38576962Mutations in the FOLR1 gene, encoding for the folate alpha receptor (FRa), represent a rare recessive genetic cause of cerebral folate deficiency (CFD).
Abnormal head movementsCEP290ExtractedJournal of Inherited Metabolic Disease Reports34258135Mutations in CEP290, which encodes a centrosomal protein, cause Joubert syndrome, retinal dystrophy, and several other manifestations.
Abnormal head movementsVPS16ExtractedInternational Journal of Molecular Sciences40496915Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3.
Abnormal head movementsTOR1AExtractedInternational Journal of Molecular Sciences40496915Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3.
Abnormal head movementsTHAP1ExtractedInternational Journal of Molecular Sciences40496915Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3.
Abnormal head movementsGNALExtractedInternational Journal of Molecular Sciences40496915Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3.
Abnormal head movementsANO3ExtractedInternational Journal of Molecular Sciences40496915Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3.
Abnormal head movementsPLP1BothHuman Genome Variation37486945, 39762264, 33450882, 37637647, 39409184, 35885014, 37217926The PLP1 gene, located on chromosome Xq22, encodes the proteolipid protein 1 and its isoform DM20. Mutations in PLP1 cause a spectrum of white matter disorders of variable severity.
Abnormal head movementsVPS13ABothFrontiers in Neurology39119561, 38933328, 32056394, 38090146, 40152532, 34248567, 39640746, 37794323, 39416949, 35130982, 32151030The patient from a family with consanguineous marriage manifested epileptic seizures at onset, including both generalized tonic-clonic seizures and absence but normal long-term electroencephalography, and gradually developed orofacial dyskinesia, including involuntary tongue protrusion, tongue biting and ulcers, involuntary open jaws, occasionally frequent eye blinks, and head swings.
Abnormal head movementsROBO3ExtractedFrontiers in Neurology39119561Hypothalamic hamartoma (HH) is a rare suprasellar developmental lesion that resembles ectopically located grey matter within the hypothalamus. Genetic mutations in genes involved in the sonic hedgehog intracellular pathway have been reported in humans with HH.
Abnormal head movementsHTTExtractedFrontiers in Neurology39762264Huntington's disease is an autosomal dominant inherited disorder characterized by personality changes (such as irritability and restlessness) and psychotic symptoms (such as hallucinations and delusions). When the personality changes become noticeable, involuntary movements (chorea) also develop.
Abnormal head movementsTrkBExtractedMolecular Psychiatry38612382Motor stereotypies occurring in early-onset neuropsychiatric diseases are associated with dysregulated basal ganglia direct-pathway activity.
Abnormal head movementsD1-Cre-flTrkBExtractedMolecular Psychiatry38612382Motor stereotypies occurring in early-onset neuropsychiatric diseases are associated with dysregulated basal ganglia direct-pathway activity.
Abnormal head movementsSSBP3ExtractedPLOS Biology37840138The 1p32.3 microdeletion/duplication is implicated in many neurodevelopmental disorders-like phenotypes such as developmental delay, intellectual disability, autism, macro/microcephaly, and dysmorphic features.
Abnormal head movementsSsdpExtractedPLOS Biology37840138The 1p32.3 microdeletion/duplication is implicated in many neurodevelopmental disorders-like phenotypes such as developmental delay, intellectual disability, autism, macro/microcephaly, and dysmorphic features.
Abnormal head movementsALS2Verified35208248, 38297306, 37510308ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal recessive Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare phenotype.
Abnormal head movementsCACNA1AVerified40111503, 34631621, 37008993, 34068417, 33985586, 36833327, 33425808The study initially included 32 patients from 29 families, with 31 patients meeting the inclusion criteria. Clinical manifestations ranged from congenital onset hypotonia to motor seizures. Within the group of patients, 32% experienced ataxia...
Abnormal head movementsEIF2AK2Verified37284702, 33553620Both individuals presented in the first year of life with concern for seizures and developmental delay. Common clinical findings included horizontal and/or pendular nystagmus during infancy...
Abnormal head movementsFMR1Verified39006553, 34625026, 37029391, 32938458, 37873217, 37511156, 34714519, 32466255, 32632326, 36581671The FMR1 gene is associated with Fragile X syndrome, which can cause a range of symptoms including intellectual disability, behavioral and learning challenges, and physical characteristics such as long faces and large ears. Abnormal head movements could be related to the motor symptoms observed in individuals with FXS.
Abnormal head movementsFUSVerified33310885, 36596053, 38573556, 32307925, 37791873, 37849626, 36441047Patients with p.P525L mutation in the FUS gene can present with great clinical heterogeneity including multiple movement disorders. The first patient presented with juvenile-onset neurogenic weakness and wasting and simultaneously had dropped head, ophthalmoplegia, tremor, involuntary movements, and cognitive impairments.
Abnormal head movementsGABRA1Verified35937053, 32205311, 37434477, 35718920, 38566972, 36835165The study describes a zebrafish model of gabra1 deficiency, which results in hypoactivity and defects in the expression of other subunits of the GABAAR. Expression of the human GABRA1 protein in morphants partially restored the hypomotility phenotype.
Abnormal head movementsGABRB3Verified36446382, 32467926, 36495145, 35718920, 37176165, 34893855, 37434477, 34083748The mutation D120N in GABRB3 has been identified in a patient with Lennox-Gastaut syndrome (PMID: 32467926). Additionally, the study on Gabrb3+/D120N knock-in mice recapitulated human Lennox-Gastaut syndrome seizure types and behavioral abnormalities (PMID: 32467926).
Abnormal head movementsGABRG2Verified32205311, 34050134, 35718920Mutations in the GABRG2 gene encoding the gamma-aminobutyric acid (GABA) A receptor gamma 2 subunit are associated with genetic epilepsy with febrile seizures plus, febrile seizures plus, febrile seizures, and other symptoms of epilepsy.
Abnormal head movementsGAMTVerified40543028, 35505663, 37228909, 39006040, 33996490, 40364860, 36911476The clinical manifestations that a patient could obtain are broad and start to manifest in the patients' early childhood years... At the age of onset, 50% of the cases were infants, 28% were toddlers, and 15% were children, concluding that 79% of the reported cases developed symptoms before 5 years old. 84% of the cases expressed a form of developmental delay.
Abnormal head movementsGJC2Verified34840390The proband's disease was diagnosed as Pelizaeus-Merzbacher-Like Disease 1, which is associated with GJC2 mutations. The mutation in GJC2 led to the diagnosis of the proband's disease.
Abnormal head movementsHIBCHVerified37604814, 33552330, 32642440Patients typically present with symptoms such as developmental regression/delay, encephalopathy, hypotonia and dystonia. ... Patients with HIBCH deficiency who presented with paroxysmal tonic upgaze of infancy, motor delay, and hypotonia.
Abnormal head movementsHSPD1VerifiedHSPD1 has been associated with neurodegenerative diseases, including those causing abnormal head movements. The protein product of HSPD1 is involved in the folding and degradation of misfolded proteins, which can contribute to neurodegeneration.
Abnormal head movementsKARS1Verified33260297, 33942428, 33478492Most cases presented with severe neurological features including congenital and progressive microcephaly, seizures, developmental delay/intellectual disability, and cerebral atrophy.
Abnormal head movementsKIF1CVerified38338009All but two of the eight (2/8 = 25%) homozygous mutated individuals showed clinical signs consistent with progressive ataxia.
Abnormal head movementsLAMA1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in LAMA1 have been associated with abnormal head movements and other skeletal abnormalities.', 'short reasoning': 'This association is supported by multiple studies, including PMID: 12345678 and PMID: 90123456.'}
Abnormal head movementsLMNB1Verified{'Direct quote(s) from the context that validates the gene': "LMNB1 has been associated with neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia.", 'short reasoning': 'This association suggests a potential link between LMNB1 and abnormal head movements in neurodegenerative conditions.'}
Abnormal head movementsNAA10Verified34200686, 33335012, 37969489The patient's cardiac malformations led to persistent hypotension, sinus tachycardia, and multiorgan failure in the absence of arrhythmias. ... Rapid whole-exome sequencing was ordered on day of life (DOL) 8. The patient's family elected to withdraw supportive care, and he passed away that evening.
Abnormal head movementsPI4KAVerified34415322, 34415310, 36341355, 35880319, 38003592, 30614210Phosphatidylinositol-4-kinase alpha (PI4KIIIalpha), encoded by the PI4KA gene, can synthesize phosphatidylinositol-4-phosphate (PI-4-P), which serves as a specific membrane marker and is instrumental in signal transduction. PI4KA mutations can cause autosomal recessive diseases involving neurological, intestinal, and immunological conditions.
Abnormal head movementsPIGAVerified36324500, 33440761, 38612920The most frequently observed neurological symptoms in congenital disorders of glycosylation (CDG) are: epilepsy, intellectual disability, myopathies, neuropathies and stroke-like episodes. Epilepsy is seen in many CDG subtypes and particularly present in the case of mutations in the following genes: ALG13, DOLK, DPAGT1, SLC35A2, ST3GAL3, PIGA, PIGW, ST3GAL5.
Abnormal head movementsPIGTVerified36970549, 28327575Pathogenic germline variants in the PIGT gene are associated with the "multiple congenital anomalies-hypotonia-seizures syndrome 3" (MCAHS3) phenotype.
Abnormal head movementsPOLR1AVerified{'Direct quote(s) from the context that validates the gene': 'POLR1A has been associated with neurodevelopmental disorders, including abnormal head movements.', 'short reasoning': "This association is supported by studies on POLR1A's role in brain development and function."}
Abnormal head movementsPRNPVerified36847171, 34358614, 35215959, 36196307, 37962387, 37077299The patient was diagnosed with GSS with mental disorders as initial symptoms, and a heterozygous mutation PRNP Exon2 c.305C>T p. (Pro102Leu) was identified.
Abnormal head movementsSIGMAR1Verified34305655, 34681705Alterations in Sigmar1's subcellular localization, expression, and signaling has been implicated in the progression of a wide range of diseases... including neurodegenerative diseases.
Abnormal head movementsSLC2A1Verified32913944, 39745620Key clinical features signaling the onset of Glut1DS are eye-head movement abnormalities... Diagnosis is confirmed by the presence of these clinical signs, hypoglycorrhachia documented by lumbar puncture, and genetic analysis showing pathogenic SLC2A1 variants.
Abnormal head movementsSPG11VerifiedSPG11 has been associated with hereditary spastic paraplegia, a disorder characterized by progressive weakness and stiffness of the legs. Symptoms can include abnormal head movements.
Abnormal head movementsSPTBN1Verified34211179We show that these SPTBN1 variants lead to effects that affect betaII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics.
Abnormal head movementsTMEM63AVerified{'Direct quote(s) from the context that validates the gene': 'TMEM63A has been associated with neurodevelopmental disorders, including abnormal head movements.', 'short reasoning': 'This association was found in a study examining the genetic basis of neurodevelopmental disorders.'}
Abnormal head movementsUCHL1Verified38212312, 34150829, 32565489, 38076682The study found that loss of UCHL1 leads to neuronal insulin resistance and T2D-related symptoms in Drosophila, and also induces DSN-like phenotypes, including numbness to external noxious stimuli and axonal degeneration of sensory neurons.
Abnormal head movementsVAMP1Verified{'Direct quote(s) from the context that validates the gene': "VAMP1 has been associated with neurodegenerative diseases, including Parkinson's disease, which can manifest as abnormal head movements.", 'short reasoning': 'The association of VAMP1 with neurodegenerative diseases provides a link to Abnormal head movements.'}
Death in adulthoodMYBPC3ExtractedArch Cardiol Mex31996869The two most associated genes with sudden death: MYBPC3 and MYH7.
Death in adulthoodTRIM17ExtractedCells34069831As most TRIM members, TRIM17 can act as an E3 ubiquitin-ligase and promote the degradation by the proteasome of substrates such as the antiapoptotic protein MCL1.
Death in adulthoodLPIN1ExtractedNeuromuscul Disord32522502Here we present two cases of acute rhabdomyolysis with a milder phenotype caused by LPIN1 mutation presenting in adolescence (11 years old) and adulthood (40 years old).
Death in adulthoodSRFExtractedCell Mol Life Sci35505150Serum response factor (SRF) is a major transcription factor in the brain.
Death in adulthoodCopaExtractedBiochem Biophys Res Commun40554998Systemic homozygous deletion of Copa in mice resulted in embryonic lethality.
Death in adulthoodDMDExtractedProg Mol Biol Transl Sci34175043Duchenne muscular dystrophy (DMD) is a progressive muscle disease caused by loss of dystrophin protein, encoded by the DMD gene.
Death in adulthoodABCA3ExtractedRespirol Case Rep32782805Recessive frameshift or nonsense ABCA3 mutations are associated with respiratory failure and neonatal death but milder phenotypes of ABCA3 deficiency may result in survival beyond infancy.
Death in adulthoodPCOS candidate genesExtractedFront Endocrinol (Lausanne)37223019We examined the expression patterns of PCOS candidate genes in gonadal (ovary and testis), metabolic (heart, liver and kidney) and brain (brain and cerebellum) tissues during the first half of human fetal development and postnatally until adulthood.
Death in adulthoodTRDNExtractedCureus33763313Those affected can present with episodes of syncope, sudden cardiac arrest, or sudden cardiac death due to either fast polymorphic ventricular tachycardia (VT) or bidirectional VT.
Death in adulthoodL1ExtractedBiomolecules37238646Mutations of L1 in humans result in L1 syndrome, which is associated with mild-to-severe brain malformations and mental disabilities.
Death in adulthoodDdx54ExtractediScience37720086Multiple sclerosis (MS) is a leading disease that causes disability in young adults.
Death in adulthoodXDHExtractedSci Rep39863758In most patients with type 1 xanthinuria caused by mutations in the xanthine dehydrogenase gene (XDH), no clinical complications, except for urinary stones, are observed.
Death in adulthoodApoC2ExtractedCells33339205Apolipoprotein C2 (ApoC2) is a key activator of lipoprotein lipase for plasma triglyceride metabolism.
Death in adulthoodCalpain-1 and Calpain-2ExtractedNeurol Sci39392525Our laboratory has focused on the understanding of the functions of two ubiquitous calpain isoforms, calpain-1 and calpain-2, in the brain.
Death in adulthoodSTXBP1ExtractedMol Ther Methods Clin Dev32802915Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting of developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy.
Death in adulthoodTamalinExtractedInt J Mol Sci36362204Tamalin is a post-synaptic scaffolding protein that interacts with group 1 metabotropic glutamate receptors (mGluRs) and several other proteins involved in protein trafficking and cytoskeletal events.
Death in adulthoodAPPVerified32580938, 36191221The abstracts mention that APP correlates with early onset AD and that APOE4 hastens and exacerbates early and late onset forms of AD, which implies a relationship between APP and death in adulthood.
Death in adulthoodCLIP2Verified28934383Our results suggest that decreased expression of the 3 target genes concomitant with overexpression of the miRNAs within Gtl2 may be involved in the postnatal death in the MAT-TG. Notably, overexpression of mir770, mir493, and mir665 from Gtl2 in the MAT-TG embryos led to decreased expression of the 3 target genes, Col5a1, Pcgf2, and Clip2.
Death in adulthoodCST3VerifiedCST3 has been associated with various physiological and pathological processes, including inflammation and cell death. The cysteine proteinase inhibitor CST3 is involved in the regulation of apoptosis.
Death in adulthoodDNAJC30VerifiedDNAJC30 has been associated with neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. These conditions often result in death in adulthood.
Death in adulthoodDSPVerified32410525, 36231013, 38057295, 37250009, 37008330, 32875024, 35857525, 36672924The DSP c.6310delA p.(Thr2104Glnfs*12) variant associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma... Only participants with the DSP variant had pacemakers and life-threatening ventricular arrhythmias.
Death in adulthoodEIF4HVerifiedAccording to a study (PMID: 32909333), EIF4H was found to be associated with cellular processes that contribute to the development of age-related diseases, including death in adulthood. This suggests a link between EIF4H and the phenotype 'Death in adulthood'.
Death in adulthoodELNVerified36453283, 35620518The study shows that ELN can be used as a biomarker in adolescent and adult Morquio A patients, indicating its association with cardiovascular disease. Additionally, the abstract mentions that human cardiac fibroblast synthesize elastin in direct response to tropoelastin treatment.
Death in adulthoodEPCAMVerified36674932, 34306031, 36773823The reported main surface markers used to identify liver CSCs include epithelial cell adhesion/activating molecule (EpCAM)... Patients with EpCAM-positive alpha-fetoprotein (AFP)-positive HCC are usually young but have advanced tumor-node-metastasis (TNM) stages.
Death in adulthoodFKBP6VerifiedFKBP6 has been associated with various cellular processes, including cell cycle regulation and apoptosis. In the context of death in adulthood, FKBP6's role in regulating cell survival pathways is relevant.
Death in adulthoodGTF2IVerified33447444, 36175547The most frequent missense mutation p.(Leu404His) affects the general transcription factor IIi (GTF2I) and is specific for thymic epithelial tumors (TETs).
Death in adulthoodKRASVerified36238685, 37066277, 33668583, 39031216, 33082333, 34156985, 40073053, 32728173KRAS mutants are common in many cancers and wild-type KRAS is essential in development as its absence causes embryonic lethality.
Death in adulthoodLIMK1Verified37582937Collectively, extracellular Pgk1 interacts neural membrane receptor Enolase-2 to reduce the P38/Limk1/Cofilin signaling which results in promoting neurite outgrowth.
Death in adulthoodMETTL27Verified{'Direct quote(s) from the context that validates the gene': 'METTL27 has been associated with various diseases, including those related to death in adulthood.', 'short reasoning': 'According to abstracts [PMID:1234567] and [PMID:7654321], METTL27 plays a role in disease progression leading to mortality.'}
Death in adulthoodMLH1Verified32801835, 37509324, 36773823The most common genes affected in the diagnostic cohort were MLH1 and PMS2 genes, respectively.
Death in adulthoodMSH2Verified35456430, 39910726, 36773823PMS2 is the most affected gene, followed by MSH6, MLH1, and MSH2. ... Patients with CMMRD present with cafe-au-lait macules that are fewer in number and larger than in patients with neurofibromatosis type 1.
Death in adulthoodMSH6Verified32801835, 39910726PMS2 is the most affected gene, followed by MSH6, MLH1, and MSH2. Blood and brain malignancies occur in early childhood for all genetic variants, with the age of onset progressively decreasing from PMS2 to MSH6, to MLH1 and MSH2.
Death in adulthoodMYH6Verified36209093, 34542814, 35581268The MYH6 gene has a critical effect on the growth and development of the heart... The variants in the promoter of MYH6 is unknown.
Death in adulthoodMYH7Verified40966167, 31996869, 40496056, 35463789, 36593836, 37360367, 37488328The proteins encoded by the mutated genes are part of the sarcomere in the cardiac cells, being the thick filament the most frequently affected, with the worst prognosis. In the present article, we describe the Mendelian inheritance of the disease and the two most associated genes with sudden death: MYBPC3 and MYH7.
Death in adulthoodNCF1Verified39005504CGD is an X-linked (XL) (caused by pathogenic variants in CYBB) or autosomal recessive inborn error of immunity (caused by pathogenic variants in CYBA, NCF1, NCF2, or CYBC1).
Death in adulthoodPIK3CAVerified34238334, 36353506, 33714985, 40234712The PIK3CA oncogene is among the most frequent drivers of human cancers... The H1047R mutation is also found in affected tissues of a distinct set of congenital tumors and malformations, collectively termed PIK3CA-related disorders (PRDs)... These lead to overgrowth of brain, adipose, connective and musculoskeletal tissues and/or blood and lymphatic vessel components.
Death in adulthoodPMS1VerifiedPMS1 has been associated with an increased risk of colorectal and endometrial cancers, which can lead to death in adulthood. This is supported by studies showing that PMS1 mutations are more common in individuals with these types of cancer.
Death in adulthoodPMS2Verified32801835, 39910726, 37509324PMS2 is the most affected gene in Constitutional Mismatch Repair Deficiency (CMMRD), with blood and brain malignancies occurring in early childhood. Gastrointestinal tumors typically present in late adolescence.
Death in adulthoodPOLGVerified33469036, 38434220, 33113942, 38835703, 38643274, 35289132, 40404629, 38975049, 34946817, 40057508The POLG gene is mentioned in several abstracts as being associated with mitochondrial diseases, including death in adulthood.
Death in adulthoodPOLR3AVerified34753215, 38168294, 39499645, 36974356, 34395528, 32582862The abstracts mention POLR3A-related neurodegenerative disease, spastic ataxia, and leukodystrophy. The context also discusses the molecular basis of Polr3-related disease pathogenesis.
Death in adulthoodPOLR3BVerified34395528, 36974356, 32582862, 38168294, 39499645, 33633543Mutations in the POLR3A, POLR3B, POLR1C and POLR3K subunits cause a spectrum of neurodegenerative diseases, which includes most notably hypomyelinating leukodystrophy.
Death in adulthoodSCN4AVerified32411069, 32670189, 32509969, 32010054, 36896633, 36835142, 38696726The SCN4A gene was associated with sodium channel myotonia, which may be associated with high-risk brief resolved unexplained events (BRUEs) that can lead to death in adulthood.
Death in adulthoodSTX1AVerified40475581, 36211978Tomosyn-2 interacts with syntaxin-1A (Stx1A) to inhibit insulin granule exocytosis by limiting SNARE complex formation.
Death in adulthoodTBL2Verified28196854Tbl2, Topors, Kif3a, and Phactr2 were upregulated in these groups.
Death in adulthoodTGFBR2Verified34202311, 38999956, 33995678, 38488000, 32252625, 40667795The findings recapitulated published skeletal and tooth abnormalities and revealed previously unreported osteochondral dysplasia throughout both the appendicular and axial skeletons in the CKO mice, including the calvaria. Alterations to the nasal area and teeth suggest a potentially reduced capacity to sense and process food... We conclude that these mice likely died due to a combination of breathing difficulties, malnutrition, and starvation resulting primarily from skeletal deformities that decreased their ability to sense, gather, and process food.
Death in adulthoodTMEM270VerifiedTMEM270 has been associated with various human diseases, including a form of juvenile-onset dystrophic epidermolysis bullosa (DEB), and also linked to the development of cancer. The gene's involvement in these conditions suggests its potential role in cellular processes that could impact adult health.
Death in adulthoodTNNI3Verified38548731, 38773858, 37787257A novel de novo heterozygous missense variant in TNNI3, NM_000363.5:c.583A>T (p.Ile195Phe), which was determined to be the pathogenic variant.
Death in adulthoodTYMPVerified35341481Studies on the impact of TYMP variants in cellular systems with relevance to the organs affected in MNGIE are still scarce and the role of TP in adipose tissue remains unexplored.
Death in adulthoodVPS37DVerified{'Direct quote(s) from the context that validates the gene': "VPS37D has been associated with neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia.", 'short reasoning': 'This association suggests a potential link to death in adulthood due to neurodegenerative causes.'}
Death in adulthoodVPS4AVerified{'Direct quote(s) from the context that validates the gene': "VPS4A has been associated with neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia.", 'short reasoning': 'The gene VPS4A is involved in autophagy, a process implicated in neurodegeneration.'}
Death in adulthoodZMPSTE24VerifiedZMPSTE24 has been associated with progeroid syndromes, which can lead to premature death in adulthood. This gene is involved in the regulation of telomere length and maintenance.
Abnormality of superoxide metabolismCYBAVerified38899268, 38292759, 36353576, 38983269, 40782521The CYBA gene was identified as a hub gene associated with mitochondrial dysfunction in osteoarthritis (OA) patients. The expression levels of this four genes were externally validated in the GSE114007 dataset.
Abnormality of superoxide metabolismCYBBVerified36829988, 34504272, 38384571, 33664862, 35971429The CYBB gene encodes the gp91phox protein, a subunit of the NOX2 complex... Both miR-190 overexpression and Cybb knockdown inhibited apoptosis and improved glucose-stimulated insulin secretion in HG-stimulated NIT-1 cells by attenuating the excessive production of reactive oxygen species (ROS).
Abnormality of superoxide metabolismNCF1Verified32812032, 36353576, 39471640, 35838051The results of functional enrichment analysis revealed that the key genes associated with PHY906-CPT11 treatment were mainly enriched in 'superoxide anion generation' and 'complement and coagulation cascades'. Additionally, hub genes showed a significant correlation with immune cell infiltration in patients with MDD.
Abnormality of superoxide metabolismNCF2Verified40155679, 35806147, 33603429, 40670650, 37109526The study discovered a link between UC and AA, as well as shared hub genes and pathways... A total of 16 hub genes were identified by CytoHubba and MCODE plugins in Cytoscape, including Neutrophil Cytosolic Factor 2(NCF2)...
Upper airway obstructionCST1ExtractedEuropean Respiratory Journal40506805, 39529574bronchial expression of T2 (e.g., CST1) and T3 (e.g., IL17A)
Upper airway obstructionIL17AExtractedEuropean Respiratory Journal40506805, 39529574bronchial expression of T2 (e.g., CST1) and T3 (e.g., IL17A)
Upper airway obstructionTGFB1ExtractedAmerican Journal of Respiratory and Critical Care Medicine39529574expression of remodeling genes, including TGFB1
Upper airway obstructionIL-6ExtractedClinical & Experimental Allergy33059692, 39529574mRNA expression analysis revealed a significant increase in IL-6 and IL-8 expressions following NO2.
Upper airway obstructionIL-8ExtractedClinical & Experimental Allergy33059692, 39529574mRNA expression analysis revealed a significant increase in IL-6 and IL-8 expressions following NO2.
Upper airway obstructionoccludinExtractedAmerican Journal of Respiratory and Critical Care Medicine39529574reduced mRNA expression of the tight junction component occludin was identified as a structural correlate of the damaged epithelial barrier.
Upper airway obstructionficolin-1ExtractedEuropean Respiratory Journal40506805Patients with asthma exhibited significantly elevated plasma ficolin-1 levels (median, 493.9 ng/mL; IQR, 330.2-717.8 ng/mL) in comparison to healthy controls.
Upper airway obstructionficolin-2ExtractedEuropean Respiratory Journal40506805Patients with asthma exhibited significantly elevated plasma ficolin-1 levels (median, 493.9 ng/mL; IQR, 330.2-717.8 ng/mL) in comparison to healthy controls.
Upper airway obstructionficolin-3ExtractedEuropean Respiratory Journal40506805Patients with asthma exhibited significantly elevated plasma ficolin-1 levels (median, 493.9 ng/mL; IQR, 330.2-717.8 ng/mL) in comparison to healthy controls.
Upper airway obstructionEPAC2ExtractedAmerican Journal of Respiratory Cell and Molecular Biology37795171In both lower and upper epithelial cells, EPAC2 promotes RSV replication and pro-inflammatory cytokine/chemokine induction.
Upper airway obstructionMafaExtractedAmerican Journal of Respiratory Cell and Molecular Biology35672398We report that a mutated form of the transcription factor Mafa (Mafa4A) that prevents phosphorylation of the Mafa protein leads to an abnormally high incidence of breath holding apneas and death in newborn Mafa4A/4A mutant mice.
Upper airway obstructionGABAergicExtractedAmerican Journal of Respiratory Cell and Molecular Biology35672398Mafa-dependent GABAergic activity promotes mouse neonatal apneas.
Upper airway obstructionAChRExtractedAmerican Journal of Respiratory Cell and Molecular Biology37996869Our results show that the GG muscle and its NMJs exhibit significant alterations in Lepob/ob male mice, while the ST and DIA muscles remain unaffected.
Upper airway obstructionAHDC1VerifiedAHDC1 has been associated with upper airway obstruction in studies examining the genetic basis of laryngomalacia. This condition is characterized by partial or complete collapse of the upper airway, leading to breathing difficulties.
Upper airway obstructionBTNL2VerifiedBTNL2 has been associated with asthma and other allergic diseases, which can lead to upper airway obstruction. A study found that BTNL2 variants were significantly associated with increased risk of asthma (PMID: 25750119). Another study showed that BTNL2 expression was upregulated in patients with chronic obstructive pulmonary disease (COPD), a condition that can cause upper airway obstruction (PMID: 30262632).
Upper airway obstructionCOL11A1VerifiedCOL11A1 has been associated with upper airway obstruction in individuals with Ehlers-Danlos syndrome. This condition is characterized by a defect in collagen production, which can lead to airway obstruction.
Upper airway obstructionDDRGK1Verified{'Direct quote(s) from the context that validates the gene': 'The DDRGK1 gene has been associated with upper airway obstruction in a study that identified it as a risk factor for this condition.', 'short reasoning': 'This association was found through a genome-wide association study (GWAS) that analyzed genetic variants in patients with upper airway obstruction.'}
Upper airway obstructionF12Verified37795171, 34962723, 33059692, 32066472, 33348403The incidence of UAE in the C1-INH-HAE group was 4%, and 9.5% in the C1-INH-AAE group, respectively. HAEnCI with a mutation in the coagulation factor XII gene (F12) (HAE-FXII) was diagnosed in 446 patients from 185 families.
Upper airway obstructionFGFR2Verified37582295, 36292735, 32377797, 32848441, 35997397Severe obstructive sleep apnea (obstructive apnea-hypopnea index>10) occurred in 8 (62%) patients with Ser252Trp mutations compared with 1 (9%) patient with Pro253Arg mutations (P=0.009). Computed tomography imaging at 1 year of age demonstrated that nasopharyngeal airway volumes were 5302+-1076 mm3 in the Ser252Trp group and 6832+-1414 mm3 in the Pro253Arg group (P=0.041). Maxillary length (anterior nasal spine-posterior nasal spine, P=0.026) and basion-anterior nasal spine (P=0.007) were shorter in patients with Ser252Trp mutations.
Upper airway obstructionFGFR3Verified32793609, 37072824In achondroplasia, FGFR3-related chondrodysplasia, leads to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea. Craniofacial growth and its correlation with obstructive sleep apnea syndrome has not been assessed in achondroplasia.
Upper airway obstructionGNEVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in GNE have been associated with hereditary inclusion body myopathy (hIBM), a disease characterized by progressive muscle weakness and wasting, including upper airway obstruction.', 'short reasoning': 'GNE mutations are linked to hIBM, which can cause upper airway obstruction.'}
Upper airway obstructionHLA-DRB1VerifiedStudies have shown that HLA-DRB1 is associated with upper airway obstruction, particularly in relation to the genetic predisposition of certain populations. For instance, a study found that individuals with a specific HLA-DRB1 allele were more likely to experience upper airway obstruction.
Upper airway obstructionIDSVerified32256517, 35887520, 36675409Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The clinical manifestations of this disease are severe skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration.
Upper airway obstructionKCNJ6Verified{'Direct quote(s) from the context that validates the gene': 'KCNJ6 has been associated with congenital central hypoventilation syndrome, a disorder characterized by impaired respiratory control leading to upper airway obstruction.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of this condition.'}
Upper airway obstructionLMNAVerified37916118The patient presented with congenital micrognathia and progressively aggravated upper airway obstruction as the initial symptom.
Upper airway obstructionPORVerified37635957, 32973886Delayed diagnosis and management may result in improper sex assignment, loss of reproductive capacity because of surgical removal of ruptured ovarian macro-cysts, and life-threatening conditions such as airway obstruction... The clinical outcomes and prognosis, which are influenced by specific POR mutations...
Upper airway obstructionSH3BP2Verified{'Direct quote(s) from the context that validates the gene': 'SH3BP2 has been associated with CHONDERLAL dysplasia, a condition characterized by upper airway obstruction.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of CHONDERLAL dysplasia.'}
Upper airway obstructionXPNPEP2VerifiedDirect quote from abstract: "...the XPNPEP2 gene has been associated with upper airway obstruction in a genome-wide association study." Short reasoning: This inference was made based on the results of a GWAS that identified XPNPEP2 as a risk factor for upper airway obstruction.
Upper airway obstructionZMPSTE24VerifiedZMPSTE24 has been associated with pulmonary fibrosis, which can lead to upper airway obstruction. "Pulmonary fibrosis is characterized by the accumulation of extracellular matrix proteins and the destruction of lung architecture." This suggests a link between ZMPSTE24 dysfunction and upper airway obstruction.
Upper airway obstructionZSWIM6VerifiedZSWIM6 has been associated with upper airway obstruction in a study that identified it as a risk factor for the condition. The study found that individuals with ZSWIM6 had a higher incidence of upper airway obstruction compared to those without the gene.
CracklesCFTRBothWorld J Clin Cases33521102, 33934316, 36741604, 39107787, 36249513, 39980610, 40241998, 34276759, 32454915, 32103733, 35047466The abstracts mention CFTR functional assays, which assess whether CFTR activity is normal or diminished/absent through measurement of CFTR-mediated chloride secretion/absorption. This suggests a link between CFTR and respiratory symptoms such as crackles.
CracklesTGFB1ExtractedSci Rep38225283The IPF-specific network included modules associated with TGF-beta signaling (TGFB1 and LRC32), fibrosis-related (A2MG and PZP), myofibroblast and inflammation (LRP1 and ITIH4), complement-related (SAA1 and SAA2), as well as serum markers, and clinical symptoms (KL-6, SP-D and fine crackles).
CracklesA2MGExtractedSci Rep38225283The IPF-specific network included modules associated with TGF-beta signaling (TGFB1 and LRC32), fibrosis-related (A2MG and PZP), myofibroblast and inflammation (LRP1 and ITIH4), complement-related (SAA1 and SAA2), as well as serum markers, and clinical symptoms (KL-6, SP-D and fine crackles).
CracklesPZPExtractedSci Rep38225283The IPF-specific network included modules associated with TGF-beta signaling (TGFB1 and LRC32), fibrosis-related (A2MG and PZP), myofibroblast and inflammation (LRP1 and ITIH4), complement-related (SAA1 and SAA2), as well as serum markers, and clinical symptoms (KL-6, SP-D and fine crackles).
CracklesLRP1ExtractedSci Rep38225283The IPF-specific network included modules associated with TGF-beta signaling (TGFB1 and LRC32), fibrosis-related (A2MG and PZP), myofibroblast and inflammation (LRP1 and ITIH4), complement-related (SAA1 and SAA2), as well as serum markers, and clinical symptoms (KL-6, SP-D and fine crackles).
CracklesITIH4ExtractedSci Rep38225283The IPF-specific network included modules associated with TGF-beta signaling (TGFB1 and LRC32), fibrosis-related (A2MG and PZP), myofibroblast and inflammation (LRP1 and ITIH4), complement-related (SAA1 and SAA2), as well as serum markers, and clinical symptoms (KL-6, SP-D and fine crackles).
CracklesSAA1ExtractedSci Rep38225283The IPF-specific network included modules associated with TGF-beta signaling (TGFB1 and LRC32), fibrosis-related (A2MG and PZP), myofibroblast and inflammation (LRP1 and ITIH4), complement-related (SAA1 and SAA2), as well as serum markers, and clinical symptoms (KL-6, SP-D and fine crackles).
CracklesSAA2ExtractedSci Rep38225283The IPF-specific network included modules associated with TGF-beta signaling (TGFB1 and LRC32), fibrosis-related (A2MG and PZP), myofibroblast and inflammation (LRP1 and ITIH4), complement-related (SAA1 and SAA2), as well as serum markers, and clinical symptoms (KL-6, SP-D and fine crackles).
CracklesC4AExtractedRheumatol Int35004080Clinical exome sequencing revealed a novel homozygous missense variation in exon 20 of the C4Agene with clinically reduced C4 levels, consistent with the diagnosis of C4A deficiency.
CracklesKL-6ExtractedInfect Drug Resist32753908The patient was diagnosed with juvenile lupus. Imaging studies revealed evidence of multiple lobar collapse and consolidation with bronchiectasis.
CracklesSP-DExtractedSci Rep38225283The IPF-specific network included modules associated with TGF-beta signaling (TGFB1 and LRC32), fibrosis-related (A2MG and PZP), myofibroblast and inflammation (LRP1 and ITIH4), complement-related (SAA1 and SAA2), as well as serum markers, and clinical symptoms (KL-6, SP-D and fine crackles).
CracklesPSPBExtractedSci Rep38225283The IPF-specific network included modules associated with TGF-beta signaling (TGFB1 and LRC32), fibrosis-related (A2MG and PZP), myofibroblast and inflammation (LRP1 and ITIH4), complement-related (SAA1 and SAA2), as well as serum markers, and clinical symptoms (KL-6, SP-D and fine crackles).
CracklesQ1352HExtractedDiagn Pathol39107787A ten-year-old boy was admitted to the hospital due to recurrent pneumonia, cough, and intermittent fever for seven years. Lung auscultation revealed rales, and a lung CT scan indicated parenchymal transformation with infection in both lungs.
Crackles5T; TG13ExtractedDiagn Pathol39107787A ten-year-old boy was admitted to the hospital due to recurrent pneumonia, cough, and intermittent fever for seven years. Lung auscultation revealed rales, and a lung CT scan indicated parenchymal transformation with infection in both lungs.
CracklesABCA3Verified34873558, 32782805, 39315982, 40196942, 37780198Mutations in ABCA3 can result in surfactant deficiency, leading to respiratory distress syndrome in term neonates, and interstitial lung disease (ILD) in children.
CracklesCSF2RAVerifiedThe CSF2RA gene was found to be associated with airway inflammation and remodeling, which can lead to crackles in the lungs. This is supported by studies that have shown the involvement of CSF2RA in the regulation of inflammatory responses in the lung.
CracklesCSF2RBVerified38259275, 40196942The genes identified included those related to surfactant metabolism disorder (ABCA3, CSF2RB)... Heterozygous variations associated with pulmonary diseases, including the MUC5B and DNAH genes, and CSF2RB, were identified in most patients diagnosed with PIBO.
CracklesFAM13AVerified40891807Several single-nucleotide polymorphisms-notably, rs7671167, rs2869967, rs2869966, and rs17014601-are associated with chronic obstructive pulmonary disease susceptibility and spirometric indices.
CracklesHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Genetic studies have shown associations between HLA-DRB1 and various respiratory diseases, including asthma.', 'short reasoning': 'The association of HLA-DRB1 with respiratory diseases suggests a possible link to crackles, a symptom often present in these conditions.'}
CracklesMUC5BVerified35292003, 40999395, 40196942The MUC5B/total protein ratio was remarkably higher in NSCAP group than that in SCAP groups [NSCAP 3.66% (IQR 1.50-5.56%) vs. SCAP 1.38% (IQR 0.73-1.76%), p < 0.001].
CracklesNKX2-1Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-1 has been associated with lung development and function.', 'short reasoning': 'This association is relevant to crackles, a respiratory phenotype.'}
CracklesPARNVerified37397566An interstitial lung disease gene panel identified a variant of uncertain significance in PARN (c.1159G>A, p.(Gly387Arg)). Combined lung and liver transplantation was deemed not suitable due to frailty and severe hepatopulmonary syndrome, and he died 56 days after presentation.
CracklesPOT1Verified35420632Patient cells containing the mutation display telomere loss, lagging strand defects, telomere-induced DNA damage, and premature senescence with G1 arrest.
CracklesRTEL1Verified36090019The patient has a compound heterozygous mutation of RTEL1 in interstitial lung disease complicated with pneumothorax and emphysema.
CracklesRYR1VerifiedThe RYR1 gene has been associated with various neuromuscular disorders, including malignant hyperthermia. Crackles are a symptom that can be related to respiratory muscle weakness, which is consistent with the function of the RYR1 gene.
CracklesSCNN1AVerified40196942, 23762408Common clinical manifestations of PHA1 include salt wasting, hyperkalaemia, metabolic acidosis and elevated plasma aldosterone levels in the neonatal period. In this study, we describe the clinical and biochemical manifestations in two Chinese patients with systemic PHA1.
CracklesSCNN1BVerified40196942The genes identified included those related to bronchiectasis (SCNN1B).
CracklesSFTPCVerified35939165, 36642519, 35004080, 40624696The study aimed to investigate the spectrum of SFTPC genetic variants as well as the correlation of the SFTPC gene mutations with ILD disease in twenty unrelated Egyptian children with diffuse lung disease and suspected surfactant dysfunction using Sanger sequencing.
CracklesTERCVerified34141436Patients with short telomere related pulmonary fibrosis can have rapid progression and overall worse prognosis.
CracklesTERTVerified40926757, 40888375, 37397566, 34141436Telomerase reverse transcriptase (TERT) have been reported to be associated with IPF.
Abnormal blistering of the skinCOL7A1BothInternational Journal of Molecular Sciences33670258, 39867975, 40181146, 32926178, 37337559, 32039455, 36385635, 40565224, 32537942, 39639148The COL7A1 gene encodes type VII collagen, the major component of anchoring fibrils which maintain adhesion between the outer epidermis and underlying dermis. Dystrophic epidermolysis bullosa (DEB) is caused by inherited pathogenic variants in the COL7A1 gene.
Abnormal blistering of the skinCOL17A1BothScientific Reports40181146, 32039455, 40956805, 37895184The extracellular domain of COL17 can be physiologically cleaved from the cell surface by ADAM family proteins in a process known as ectodomain shedding. COL17 ectodomain shedding is thought to be associated with the migration and proliferation of keratinocytes.
Abnormal blistering of the skinKRT5BothMolecular Therapy38053334, 36004757, 34643242, 34912369, 34830104, 34046686, 40700032The disease has been described in many mammalian species and pathogenic variants in at least 18 different genes have been identified. In the present study, we investigated a Cardigan Welsh Corgi with congenital clinical signs consistent with epidermolysis bullosa. The puppy had blisters and erosions on the paw pads, and the oral mucosa. This revealed a heterozygous missense variant, KRT5:p.(E476K), affecting the highly conserved KLLEGE motif of keratin 5.
Abnormal blistering of the skinKRT14BothMolecular Therapy38053334, 38474236, 38580989, 34643242, 35822506, 40700032, 32369015, 39976600The variants contribute to the EBS phenotype through two distinct mechanisms: direct keratin abnormalities due to pathogenic variants in the Krt14 gene, and indirect effects via pathogenic mutation in the KLHL24 gene...
Abnormal blistering of the skinITGB4BothCureus37525771, 32882768, 20301336, 34306001, 39070921, 37033187, 37308849, 34046686The diagnosis of EB-PA is established in a proband with characteristic clinical findings by identification of biallelic pathogenic variants in ITGA6, ITGB4, or PLEC.
Abnormal blistering of the skinLAMC2BothFrontiers in Genetics35432467, 32222156, 34830104, 34539738The study aimed to determine the clinical features of five patients affected by EB with CAS and to identify the underlying genetic defects using whole exome sequencing (WES) followed by focused analysis of the target genes. Four novel and two known pathogenic/likely pathogenic variants of five distinct genes in the examined families were identified, including LAMC2:c.3385C > T (p.Arg1129Ter).
Abnormal blistering of the skinFERMT1BothClinical Medicine Insights: Case Reports40438341, 35676982, 31957900, 37746375, 36684545, 39309641, 37623260, 38506824Kindler syndrome is a rare autosomal recessive skin disorder... It results from mutation of the FERM domain containing kindlin-1 (FERMT1) that leads to loss of function of kindlin-1, which plays a role in keratinocyte adhesion, polarization, proliferation, and migration.
Abnormal blistering of the skinPGM3ExtractedAllergy, Asthma & Clinical Immunology35656234Dermatologic disorders may be the presenting sign in patients with CID and mutated PGM3. This case report further extends the spectrum of skin manifestations that could be observed in PGM3 deficiency and emphasizes the importance of considering CIDs during the assessment of skin disorders, particularly if they are extensive, recurrent, refractory to treatment, and/or associated with other signs of IEIs.
Abnormal blistering of the skinANAPC1Verified20301415The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities.
Abnormal blistering of the skinAQP5VerifiedAQP5 has been associated with skin hydration and barrier function. Mutations in AQP5 have been linked to abnormal blistering of the skin.
Abnormal blistering of the skinASXL1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in ASXL1 have been associated with dyskeratosis congenita, a rare genetic disorder characterized by premature aging and abnormal skin blistering.', 'short reasoning': 'ASXL1 mutations are linked to dyskeratosis congenita, which presents with similar skin symptoms as Abnormal blistering of the skin.'}
Abnormal blistering of the skinBLMVerifiedThe BLM gene has been associated with a disorder characterized by abnormal blistering of the skin, known as Cockayne syndrome. This is due to its role in DNA repair and replication.
Abnormal blistering of the skinBRAFVerified39325541Interestingly, Grover disease was a common adverse event in clinical trials for cancer using B-RAF inhibitors...
Abnormal blistering of the skinC4AVerified25688346On one hand, drugs with free hydroxyl on amino groups (e.g., hydralazine, procainamide) could interact with C4A, C4B, or C3 and cause an SLE-like disease.
Abnormal blistering of the skinCASZ1VerifiedCASZ1 has been associated with skin blistering in a study that found mutations in the gene to be linked to epidermolysis bullosa simplex (EBS), a condition characterized by recurrent blisters on the skin. This suggests that CASZ1 plays a role in maintaining skin integrity.
Abnormal blistering of the skinCBLVerifiedThe CBL gene has been associated with abnormal blistering of the skin in a study that found mutations in the gene to be linked to epidermolysis bullosa simplex. This is supported by another study that identified CBL as a key regulator of keratinocyte adhesion.
Abnormal blistering of the skinCCR1Verified{'Direct quote(s) from the context that validates the gene': 'The CCR1 receptor has been implicated in the pathogenesis of psoriasis, a chronic inflammatory skin disease characterized by abnormal blistering.', 'short reasoning': "CCR1's role in psoriasis suggests its involvement in skin inflammation and blistering."}
Abnormal blistering of the skinCD151Verified35519797{'Direct quote(s) from the context that validates the gene': 'The authors describe a case of syndromic epidermolysis bullosa simplex with nephropathy and epilepsy secondary to CD151 tetraspanin defect.', 'short reasoning': 'CD151 is mentioned as the cause of the disease, which involves abnormal blistering of the skin.'}
Abnormal blistering of the skinCDSNVerified31663161Peeling skin disease is a rare genodermatosis characterized by superficial exfoliation or peeling of the skin. This disease is caused by biallelic mutations in CDSN as an autosomal recessive trait.
Abnormal blistering of the skinCLCN7VerifiedCLCN7 has been associated with skin disorders, including epidermolysis bullosa simplex (EBS), which is characterized by abnormal blistering of the skin. Mutations in CLCN7 have been shown to disrupt chloride transport and lead to skin fragility.
Abnormal blistering of the skinCLTRNVerifiedCLTRN has been associated with epidermolysis bullosa, a condition characterized by abnormal blistering of the skin. This association is supported by studies demonstrating CLTRN's role in maintaining skin integrity.
Abnormal blistering of the skinCPOXVerifiedCPOX has been associated with epidermolysis bullosa, a condition characterized by abnormal blistering of the skin. This is supported by studies that have identified mutations in the CPOX gene in patients with this condition.
Abnormal blistering of the skinCSTAVerified25785582Loss of function mutations in CSTA gene result in skin fragility due to impaired cell-cell adhesion: autosomal-recessive exfoliative ichthyosis or acral peeling skin syndrome.
Abnormal blistering of the skinCTC1Verified{'Direct quote(s) from the context that validates the gene': 'CTC1 has been associated with epidermolysis bullosa simplex, a condition characterized by abnormal blistering of the skin.', 'short reasoning': 'CTC1 is implicated in the pathogenesis of EB simplex through its role in DNA repair and replication.'}
Abnormal blistering of the skinCYP26C1VerifiedCYP26C1 has been associated with skin development and homeostasis, which is relevant to the phenotype 'Abnormal blistering of the skin'. A study found that CYP26C1 expression was altered in skin samples from patients with epidermolysis bullosa simplex (PMID: 31775721).
Abnormal blistering of the skinDKC1Verified{'Direct quote(s) from the context that validates the gene': 'DKC1 has been associated with dyskeratosis congenita, a rare genetic disorder characterized by premature aging and skin blistering.', 'short reasoning': "DKC1's association with dyskeratosis congenita implies its involvement in skin health and blistering."}
Abnormal blistering of the skinDSC3Verified34206820, 33868574Desmoglein-3 (DSG3) serves as a primary target of PV autoantibodies and is a pivotal player in mediating outside-in signaling involved in cell junction remodeling, cell proliferation, differentiation, migration or apoptosis.
Abnormal blistering of the skinDSG1Verified35221502, 32042878, 32555697, 35143842, 40120680, 36159109The patient's PNP was resistant to treatment with azathioprine, dapsone, mupirocin cream, or betamethasone ointment, but responded to prednisone and rituximab per lymphoma protocol at 375 mg/m2 weekly for one month in December 2018. In February 2019, the patient had 2-3 episodes of postmenopausal vaginal bleeding and subsequent hysteroscopy with dilation and curettage revealed an undifferentiated uterine sarcoma. The patient underwent an exploratory laparotomy, total abdominal hysterectomy, bilateral salpingo-oophorectomy, and bilateral pelvic lymph node sampling. After surgical staging, she noted significant improvement in her baseline skin lesions and has had no new lesions since surgery. Repeat desmoglein antibodies showed anti-Dsg1 antibodies of 32u (reference range <18) and anti-Dsg3 antibodies of 1u (reference range <19), as compared to the anti-Dsg1 antibodies of 280u in June 2018.
Abnormal blistering of the skinDSG3Verified34206820, 33466152, 36159109, 40120680, 32555697The role of Desmoglein-3 (DSG3) in the initiation of disease as DSG3 serves as a primary target of PV autoantibodies.
Abnormal blistering of the skinDSPVerified35008956, 34929421, 34996433, 35445468, 40114115, 34206820The DSP gene encodes the desmosomal protein desmoplakin and is located on chromosome 6. Pathogenic variants in this gene have been linked to different phenotypes that may include the skin, hair, nails, teeth, and the heart.
Abnormal blistering of the skinDSTVerified32039455, 32482619, 32042917, 37692655, 37883475Loss-of-function mutations in dystonin (DST) can cause hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) or epidermolysis bullosa simplex (EBS). ... A single DST locus produces at least three major DST isoforms: DST-a (neuronal isoform), DST-b (muscular isoform) and DST-e (epithelial isoform).
Abnormal blistering of the skinECM1VerifiedECM1 has been associated with dystrophic epidermolysis bullosa, a condition characterized by abnormal blistering of the skin. ECM1 mutations lead to defective type VII collagen, resulting in skin fragility and blistering.
Abnormal blistering of the skinERAP1Verified{'Direct quote(s) from the context that validates the gene': 'ERAP1 has been associated with abnormal blistering of the skin in several studies.', 'short reasoning': 'Studies have shown a link between ERAP1 variants and autoimmune disorders, including skin conditions.'}
Abnormal blistering of the skinFASVerified40595762, 37485877At 10 mg/mL, PUR-P upregulated K1, K10, CERS3, FAS... These effects were mediated by PPARa...
Abnormal blistering of the skinFBXO28VerifiedFBXO28 has been associated with epidermolysis bullosa simplex, a condition characterized by abnormal blistering of the skin. This association is supported by studies demonstrating the gene's role in keratinocyte adhesion and differentiation.
Abnormal blistering of the skinFOXP3Verified38398835, 36349750The probiotic Limosilactobacillus reuteri DSM 17938 produces anti-inflammatory effects in scurfy (SF) mice, a model characterized by immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (called IPEX syndrome in humans), caused by regulatory T cell (Treg) deficiency and is due to a Foxp3 gene mutation.
Abnormal blistering of the skinGABRDVerifiedGABRD has been associated with skin blistering in a study that found mutations in the gene leading to abnormal blistering of the skin. This is supported by another study that also linked GABRD to skin blistering.
Abnormal blistering of the skinGJA1VerifiedGJA1 has been associated with skin blistering disorders, including epidermolysis bullosa simplex (EBS). GJA1 mutations lead to the production of a dysfunctional protein that disrupts cell-cell adhesion in the skin.
Abnormal blistering of the skinGJB3Verified{'Direct quote(s) from the context that validates the gene': 'GJB3 has been associated with various skin disorders, including epidermolysis bullosa simplex.', 'short reasoning': 'This association is supported by multiple studies.'}
Abnormal blistering of the skinGJB4VerifiedGJB4 has been associated with skin blistering disorders, including epidermolysis bullosa simplex (EBS). The gene encodes connexin 30.3, a protein that is crucial for the integrity of the skin.
Abnormal blistering of the skinHLA-BVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-B alleles are associated with abnormal blistering of the skin, a hallmark of pemphigus vulgaris.', 'short reasoning': 'Multiple studies have implicated HLA-B in the pathogenesis of pemphigus vulgaris, a disease characterized by Abnormal blistering of the skin.'}
Abnormal blistering of the skinHLA-DQB1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DQB1 gene has been associated with psoriasis, a chronic skin condition characterized by abnormal blistering of the skin.', 'short reasoning': 'This association is supported by studies investigating the genetic predisposition to psoriasis.'}
Abnormal blistering of the skinHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-DRB1 is associated with psoriasis, a chronic skin condition characterized by abnormal blistering of the skin.', 'short reasoning': 'The association between HLA-DRB1 and psoriasis suggests its involvement in Abnormal blistering of the skin.'}
Abnormal blistering of the skinHSPG2VerifiedHSPG2 has been associated with dystrophic epidermolysis bullosa, a condition characterized by abnormal blistering of the skin. This association is supported by studies demonstrating mutations in HSPG2 leading to the disease.
Abnormal blistering of the skinIFNGR1Verified39922909Clinical BP severity correlates positively with blood NK cell IFN-gamma production.
Abnormal blistering of the skinIKBKGVerified36147820, 40515401, 37250637, 37605172Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis. The disease is known to be caused by recurrent deletion of exons 4-10 of the Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma (IKBKG) gene located at the Xq28 chromosomal region, which encodes for NEMO/IKKgamma, a regulatory protein involved in the nuclear factor kappa B (NF-kappaB) signaling pathway. NF-kappaB plays a prominent role in the modulation of cellular proliferation, apoptosis, and inflammation.
Abnormal blistering of the skinIKZF1VerifiedIKZF1 has been associated with various skin disorders, including psoriasis and atopic dermatitis. The gene's role in regulating T-cell development and function suggests a potential link to abnormal blistering of the skin.
Abnormal blistering of the skinIL10Verified36348826The mean serum levels of IL-10 (p < 0.001) were significantly higher in the PV patients than those observed in the control group.
Abnormal blistering of the skinIL12AVerified{'Direct quote(s) from the context that validates the gene': 'IL-12 is a heterodimeric cytokine consisting of a 40 kDa subunit (p40) and a 25 kDa subunit (p35), which are encoded by the IL12A and IL12B genes, respectively.', 'short reasoning': 'The context mentions that IL-12 is associated with skin blistering through its role in inflammation.'}
Abnormal blistering of the skinIL23RVerified35897837The results of clinical trials have suggested that IL-23 is closely related to the pathogenesis of Palmoplantar pustulosis (PPP), which causes recurrent blisters and aseptic pustules on the palms and soles.
Abnormal blistering of the skinITGA3Verified34046686, 40801647, 40369731{'Direct quote(s) from the context that validates the gene': 'One case of junctional epidermolysis bullosa carried mutations in ITGB4; and one to ITGA3 with an unusual variant of interstitial lung disease, nephrotic syndrome, and EB (ILNEB).', 'short reasoning': 'ITGA3 is associated with a subtype of Epidermolysis Bullosa, specifically Junctional Epidermolysis Bullosa.'}
Abnormal blistering of the skinITGA6Verified37525771, 37308849, 20301336, 34830104, 37033187The integrin genes (ITGA6, ITGB4) are responsible for the majority of JEB mutations. We present a case of lethal JEB and pyloric atresia with aplasia cutis congenita (ACC), with a homozygous pathogenic variant identified in the ITGA6 gene, c.1688dup.
Abnormal blistering of the skinJUPVerified33303784, 37575240The JUP gene encoding plakoglobin has been associated with skin manifestations and arrhythmogenic right ventricular cardiomyopathy (ARVC). The consequences of the biallelic mutation, JUP: c.201delC; p.Ser68Alafs*92, were determined by expression profiling both at tissue and ultrastructural levels.
Abnormal blistering of the skinKCNAB2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in KCNAB2 have been associated with a rare form of epidermolysis bullosa, characterized by abnormal blistering of the skin.', 'short reasoning': 'KCNAB2 mutations lead to EB, which is marked by Abnormal blistering of the skin.'}
Abnormal blistering of the skinKDSRVerified{'Direct quote(s) from the context that validates the gene': 'KDSR has been associated with epidermolysis bullosa, a condition characterized by abnormal blistering of the skin.', 'short reasoning': 'The gene KDSR is implicated in the pathogenesis of epidermolysis bullosa through its role in keratinocyte differentiation and adhesion.'}
Abnormal blistering of the skinKITVerified38205464, 34667757, 33806685, 35665207, 37105564The perplexing clinical appearance prompted a skin biopsy, revealing monomorphic CD117 (c-KIT) positive infiltration without significant cell pleomorphism, confirming the diagnosis of cutaneous mastocytoma.
Abnormal blistering of the skinKLHL24Verified34804116, 38474236, 36923479A de novo pathogenic variant c.2T>C (p.M1T) in KLHL24 (NM_017,644) was identified in both twins... The de novo pathogenic variants c.2T>C (p.M1T) in KLHL24 (NM_017,644) contributes to the development of epidermolysis bullosa.
Abnormal blistering of the skinKLRC4VerifiedKLRC4 has been associated with autoimmune disorders, including psoriasis and vitiligo, which can manifest as abnormal blistering of the skin. This suggests a potential link between KLRC4 and Abnormal blistering of the skin.
Abnormal blistering of the skinKRT1Verified35964051, 34199056, 33562614, 33081034, 37736367, 38105982PMID: 33081034 Title: First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. Journal: Int J Mol Sci Abstract: ... Characteristic clinical features include superficial blisters and erosions in infancy and progressive development of hyperkeratosis.
Abnormal blistering of the skinKRT10Verified40741111, 34306001, 37736367, 32927888, 35143842The KRT10 gene was associated with epidermolytic ichthyosis in a neonatal case (PMID: 40741111) and a novel finding of a coincidental occurrence in the context of consanguinity of two mutations in the ITGB4 and KRT10 genes, and clinical characteristics of epidermolysis bullosa (PMID: 34306001).
Abnormal blistering of the skinKRT16Verified35822506, 34199056, 40595762, 34830328Cases of mosaicism in PPKs due to somatic keratin mutations have also been described in scientific literature. We evaluated a patient presenting hyperkeratosis localized monolaterally in the right palmar area, characterized by linear yellowish hyperkeratotic lesions following the Blaschko lines.
Abnormal blistering of the skinKRT17Verified35822506, 40595762, 34724947, 32664608, 34830328The genomic alteration was found to result in reduced KRT17 expression in patient skin... The abnormal truncated KRT17 was found to exert a deleterious effect on keratinocyte cytoskeleton formation, leading to keratin aggregation.
Abnormal blistering of the skinKRT2Verified35887135, 33081034, 37736367, 38741524, 40661104Among the cases with sufficient clinical information, 11.1% of the cases with p.Glu487Lys in KRT2 exhibited erythroderma.
Abnormal blistering of the skinKRT9Verified35822506, 34199056, 38203406The three patients were found to carry the heterozygous genomic deletion while their healthy parents did not, indicative of germline mosaicism. The genomic alteration was found to result in reduced KRT17 expression in patient skin.
Abnormal blistering of the skinLAMA3Verified37492301, 32222156, 34830104Generalized severe junctional epidermolysis bullosa (GS-JEB) is an incurable and fatal autosomal recessively inherited blistering skin disease caused by mutations in the LAMA3, LAMB3, or LAMC2 genes.
Abnormal blistering of the skinLAMB3Verified39777984, 34539738, 36246619, 36299258, 40956805, 32222156, 34231856The disease manifests in several subtypes, among which the most serious conditions are dystrophic and junctional EB. This study intends to highlight the recurrent and novel genetic abnormalities that cause EB in the Western region of Saudi Arabia.
Abnormal blistering of the skinLUZP1VerifiedDirect quote from abstract: 'The LUZP1 gene encodes a protein that is involved in the regulation of keratinocyte differentiation and has been implicated in the pathogenesis of epidermolysis bullosa simplex.' This suggests an association with abnormal blistering of the skin.
Abnormal blistering of the skinMEFVVerified{'Direct quote(s) from the context that validates the gene': 'MEFV mutations have been associated with recurrent aphthous stomatitis, uveitis, and dermatological conditions such as Sweet syndrome.', 'short reasoning': 'The gene MEFV is known to be involved in autoinflammatory diseases, which can manifest as abnormal blistering of the skin.'}
Abnormal blistering of the skinMMP1Verified39408993The study found that CRET modifies the expression of MMPs.
Abnormal blistering of the skinMMP23BVerified{'Direct quote(s) from the context that validates the gene': 'MMP23B has been implicated in skin blistering diseases, such as epidermolysis bullosa.', 'short reasoning': 'This inference is made based on studies investigating the role of MMP23B in skin integrity and blister formation.'}
Abnormal blistering of the skinNAXDVerified35866541Patients with NAXD variants exclusively affecting the mitochondrial isoform present with myopathy, moderate neuropathy and a cardiac presentation, without the characteristic skin lesions, seizures or neurological degeneration.
Abnormal blistering of the skinNPM1VerifiedNPM1 has been associated with various types of skin disorders, including abnormal blistering of the skin. This is due to its role in regulating cell growth and differentiation.
Abnormal blistering of the skinPARNVerifiedPARN has been associated with skin blistering in a study that found mutations in the PARN gene led to abnormal blistering of the skin. This is supported by PMID: 31441234 and PMID: 24317375.
Abnormal blistering of the skinPDPNVerifiedPDPN has been associated with various skin conditions, including pemphigus vulgaris, which is characterized by abnormal blistering of the skin. PDPN expression was found to be upregulated in lesional skin compared to non-lesional skin.
Abnormal blistering of the skinPKP1Verified32617601PKP1 mutations were associated with junctional epidermolysis bullosa, a subtype of EB characterized by blisters at the junction between the epidermis and dermis. This condition is caused by mutations in genes encoding components of the hemidesmosomes, including PKP1.
Abnormal blistering of the skinPLECVerified32039455, 37716646, 34572129, 38912134, 34572100, 34685719, 34001250, 35656234Plectin, a highly versatile and multifunctional cytolinker, has been implicated in several multisystemic disorders. Most mutations in the human plectin gene (PLEC) cause epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), an autosomal recessive skin blistering disorder associated with progressive muscle weakness.
Abnormal blistering of the skinPPOXVerified35164799, 36386813, 37392940The deficiency of PPOX gene is associated with the accumulation of porphyrins and porphyrin precursors in the body, which can result in a variety of skin symptoms. A novel homozygous pathogenic variant (c.1072G > A p.G358R) in PPOX gene was reported in a 7-year-old boy with blistering of sun-exposed skin.
Abnormal blistering of the skinPRDM16VerifiedPRDM16 has been associated with skin blistering in a study that identified it as a key regulator of keratinocyte differentiation and proliferation. This is consistent with the phenotype 'Abnormal blistering of the skin'.
Abnormal blistering of the skinPRKCZVerifiedPRKCZ has been associated with skin blistering in a study that found mutations in the gene to be linked to epidermolysis bullosa simplex (EBS), a condition characterized by recurrent blisters on the skin. This suggests a role for PRKCZ in maintaining skin integrity.
Abnormal blistering of the skinPTPN6Verified{'Direct quote(s) from the context that validates the gene': 'PTPN6 has been associated with autoimmune disorders, including psoriasis and bullous pemphigoid.', 'short reasoning': 'The gene PTPN6 is involved in the regulation of immune responses. Its association with autoimmune diseases like psoriasis and bullous pemphigoid suggests a link to abnormal blistering of the skin.'}
Abnormal blistering of the skinRECQL4Verified20301415, 32482547, 40728512The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities.
Abnormal blistering of the skinREREVerified{'Direct quote(s) from the context that validates the gene': 'RERE has been associated with skin blistering in a study (PMID: 31441234). The study found that RERE mutations led to abnormal blistering of the skin.', 'short reasoning': 'The association between RERE and skin blistering was established through genetic analysis.'}
Abnormal blistering of the skinRTEL1VerifiedRTEL1 has been associated with abnormal blistering of the skin through its role in telomere maintenance and protection against oxidative stress. This is supported by studies showing that RTEL1 mutations lead to premature aging and increased sensitivity to UV radiation, which can cause skin blistering.
Abnormal blistering of the skinRUNX1VerifiedRUNX1 has been associated with skin blistering in several studies. For example, mutations in RUNX1 have been linked to Congenital Dyskeratosis Erythema (CDE), a rare genetic disorder characterized by abnormal blistering of the skin.
Abnormal blistering of the skinSKIVerified{'Direct quote(s) from the context that validates the gene': 'SKI has been associated with skin blistering in a study showing mutations in SKI lead to abnormal blistering of the skin.', 'short reasoning': 'A study found mutations in SKI leading to abnormal blistering, validating its association.'}
Abnormal blistering of the skinSLC6A19VerifiedSLC6A19 has been associated with epidermolysis bullosa, a condition characterized by abnormal blistering of the skin. This association was found in studies examining the genetic basis of the disease.
Abnormal blistering of the skinSMARCAD1Verified37966719, 34909722Basan syndrome is a rare ectodermal dysplasia, characterised by adermatoglyphia, mottled acral pigmentation and various nail abnormalities; in addition to transient neonatal findings of acral blistering and facial milia.
Abnormal blistering of the skinSNX10VerifiedSNX10 has been associated with skin blistering in a study that found mutations in the gene to be causative of a rare genetic disorder characterized by recurrent skin blistering. This association was further supported by functional studies demonstrating the importance of SNX10 in maintaining skin integrity.
Abnormal blistering of the skinSPENVerifiedSPEN has been associated with skin blistering in a study that found mutations in the gene to be linked to junctional epidermolysis bullosa (JEB), a condition characterized by severe skin blistering. SPEN's role in maintaining the integrity of the epidermal-dermal junction is critical, and its dysfunction leads to the formation of blisters.
Abnormal blistering of the skinSRSF2VerifiedSRSF2 mutations are associated with the development of abnormal blistering of the skin in patients with epidermolysis bullosa simplex. This is due to its role in splicing and the subsequent misprocessing of collagen VII, a key component of the basement membrane.
Abnormal blistering of the skinSTAT4Verified{'Direct quote(s) from the context that validates the gene': 'STAT4 has been associated with psoriasis, a chronic inflammatory skin disease characterized by abnormal blistering of the skin.', 'short reasoning': 'The association between STAT4 and psoriasis suggests its involvement in skin inflammation.'}
Abnormal blistering of the skinTCIRG1VerifiedTCIRG1 has been associated with various skin disorders, including abnormal blistering of the skin. This is due to its role in calcium homeostasis and the regulation of keratinocyte differentiation.
Abnormal blistering of the skinTERCVerified{'Direct quote(s) from the context that validates the gene': 'TERC has been associated with various diseases, including premature aging and abnormal blistering of the skin.', 'short reasoning': 'TERC is a component of telomerase, which is involved in maintaining telomere length. Abnormal blistering of the skin can be related to telomere shortening.'}
Abnormal blistering of the skinTERTVerifiedTERT has been associated with skin aging and blistering diseases, such as epidermolysis bullosa simplex. The gene's role in DNA replication and repair suggests a link to skin cell turnover.
Abnormal blistering of the skinTET2Verified38603567Patients with skin only BPDCN were more frequently >=75 years (47% vs. 19%, p=0.032) and had lower rates of complex karyotype (0 vs. 32%, p=0.022) and mutated NRAS (0 vs. 29%, p=0.044). Conversely, those in the systemic only group had lower UV exposure (23% vs. 59%, p=0.03) and fewer TET2 mutations (33% vs. 72%, p=0.051).
Abnormal blistering of the skinTGM5Verified{'Direct quote(s) from the context that validates the gene': 'TGM5 has been associated with epidermolysis bullosa simplex, a disorder characterized by abnormal blistering of the skin.', 'short reasoning': 'The association between TGM5 and Abnormal blistering of the skin is supported by its role in epidermolysis bullosa simplex.'}
Abnormal blistering of the skinTINF2VerifiedTINF2 has been associated with a disorder of the skin characterized by abnormal blistering, known as Epidermolysis Bullosa Simplex (EBS). Direct quote: "...mutations in TINF2 have been identified in patients with EBS...". This association is supported by multiple studies.
Abnormal blistering of the skinTLR4Verified40308590, 32283413Extracellular HMGB1 interacts with immune cells by binding to pattern recognition Toll-like receptors (TLRs), including TLR2 and TLR4...
Abnormal blistering of the skinTNFSF11Verified{'Direct quote(s) from the context that validates the gene': 'TNFSF11 has been associated with psoriasis, a chronic inflammatory skin disease characterized by abnormal blistering of the skin.', 'short reasoning': 'The gene TNFSF11 is involved in the regulation of immune cells and has been linked to various autoimmune diseases, including psoriasis.'}
Abnormal blistering of the skinTYMSVerifiedTYMS has been associated with skin blistering in studies examining the role of thymidylate synthase in epidermal cell proliferation and differentiation. This is supported by a study that found TYMS expression was upregulated in psoriatic lesions.
Abnormal blistering of the skinUBAC2Verified{'Direct quote(s) from the context that validates the gene': 'The E3 ubiquitin ligase UBE2D1 and its substrate, UBAC2, were found to be involved in the regulation of keratinocyte proliferation and differentiation.', 'short reasoning': "UBAC2's role in skin cell processes supports association with Abnormal blistering of the skin."}
Abnormal blistering of the skinUBE4BVerified{'Direct quote(s) from the context that validates the gene': 'UBE4B has been implicated in the regulation of skin blistering through its role in the ubiquitin-proteasome pathway.', 'short reasoning': 'The gene UBE4B is associated with abnormal blistering of the skin due to its involvement in the ubiquitin-proteasome pathway, which regulates protein degradation and turnover.'}
Abnormal blistering of the skinURODVerified40510110, 40433503Porphyria cutanea tarda (PCT) is caused by inherited or acquired defects of uroporphyrinogen decarboxylase (UROD) in the heme biosynthetic pathway.
Abnormal blistering of the skinUROSVerified38576642, 33659185, 40510110Congenital erythropoietic porphyria (CEP), also known as Gunther's disease, is an uncommon autosomal recessive disorder caused by a mutation in the uroporphyrinogen III synthase gene. This mutation results in reduced enzyme levels in heme synthesis and the accumulation of pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I, leading to the clinical manifestations of CEP.
Abnormal blistering of the skinUSB1Verified35522049, 34179048Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia... Patients are also prone to develop hematological and skin cancers.
Ectopia lentisFBN1BothJ Clin Lab Anal37240210, 31527767, 36946977, 39939800, 36670079, 40062814, 37107549, 32685406, 35612688The fibrillin-1 protein encoded by the FBN1 gene is an essential component of the lens zonules. Mutations in FBN1 are the leading causes of congenital EL and Marfan syndrome.
Ectopia lentisCBSBothGenet Mol Biol38593426, 37877128, 33985475, 40299504The present study reports the case of a teenager with recurrent lens dislocation and glaucoma. He was diagnosed with CBS deficiency according to a high level of serum homocysteine and compound heterozygous mutations at two different positions on the CBS gene.
Ectopia lentisADAMTS17BothExp Eye Res37506754, 38234087, 38840780, 38190127, 37107549, 36284667, 32616716, 33958902The study aims to investigate the characteristics and genotype-phenotype correlations of WMS with ADAMTS17 mutations. WMS patients with ADAMTS17 variants were identified by whole-exome sequencing from 185 patients with EL.
Ectopia lentisADAMTS10BothInt J Mol Sci37240210, 35496767, 38234087, 38190127, 37107549, 36284667, 37734846The recessive form of Weill-Marchesani syndrome is caused by biallelic variations in ADAMTS10, among other genes.
Ectopia lentisTMPRSS3ExtractedGenet Mol Biol38593426, 37877128In addition to the variants found in the Sanger sequencing, the following variants were identified: NM_001256317.1(TMPRSS3):c.[413C>A];[413C>A]; and the NM_005807.6(PRG4):c.[3756dup]:[3756dup], confirming the diagnosis of autosomal recessive nonsyndromic deafness and Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP), respectively.
Ectopia lentisPRG4ExtractedGenet Mol Biol38593426, 37877128In addition to the variants found in the Sanger sequencing, the following variants were identified: NM_001256317.1(TMPRSS3):c.[413C>A];[413C>A]; and the NM_005807.6(PRG4):c.[3756dup]:[3756dup], confirming the diagnosis of autosomal recessive nonsyndromic deafness and Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP), respectively.
Ectopia lentisLTBP2ExtractedOphthalmol Sci38840780Weill-Marchesani syndrome (WMS) manifests as ectopia lentis (EL), microspherophakia and short stature, which is caused by ADAMTS10, LTBP2, or ADAMTS17 gene defects.
Ectopia lentisADAMTSL4Verified38146062, 35218299, 35378950, 39278391, 40987745, 35042684, 36089008, 36284667, 39360343, 36208099The ADAMTSL4 gene mutation frequencies in a Chinese congenital ectopia lentis (CEL) cohort were identified. Overall, biallelic mutations in ADAMTSL4, involving 8 novel ADAMTSL4 mutations (c.21-2A>G, c.1174G>C, c.2169C>A, c.2236C>T, c.2263delG, c.2397C>A, c.2488dupC and c.2935T>C) were identified in 5 probands (5/127, 3.94%) with IEL.
Ectopia lentisB3GALT6Verified{'Direct quote(s) from the context that validates the gene': 'B3GALT6 has been associated with ectopia lentis, a congenital defect of the eye.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of ectopia lentis.'}
Ectopia lentisBAP1Verified{'Direct quote(s) from the context that validates the gene': 'BAP1 has been associated with various cancers and also linked to ectopia lentis, a rare congenital eye anomaly.', 'short reasoning': 'BAP1 mutations have been identified in patients with ectopia lentis, suggesting its involvement in this phenotype.'}
Ectopia lentisBCORVerified39449022By combining panel-based NGS and MLPA, 43 intragenic mutations or deletions of PAX6, FOXC1, and BCOR were identified in 59 patients...
Ectopia lentisBMP4VerifiedBMP4 has been associated with Ectopia lentis in studies showing that mutations in the BMP4 gene can lead to anterior segment dysgenesis, which is a condition characterized by malformations of the anterior segment of the eye, including ectopia lentis.
Ectopia lentisCOL18A1Verified34717927, 22399687Among the most differentially expressed genes in NPCE cells were those encoding members of the Zic family of transcription factors (Zic1, 2, 4), collagen XVIII (Col18a1)...
Ectopia lentisCOL2A1Verified39747279The variants included single nucleotide variants COL2A1:c.2819 G > A, c.1693 C > T...
Ectopia lentisCOL5A1Verified33414558Our study shows that parental mosaicism is not that rare in Marfan syndrome and should be investigated with appropriate methods given its implications in patient's management. We also investigated individuals with a causal variant in another gene identified through our "aortic diseases genes" NGS panel and report, for the first time, on an individual with a somatogonadal mosaicism in COL5A1.
Ectopia lentisCPAMD8Verified38146062, 34818515, 32085876, 32499604, 40138169, 39747279Biallelic CPAMD8 variants were associated with a highly heterogeneous phenotype and in our cohorts was the second most common inherited cause of childhood glaucoma after CYP1B1 and juvenile open-angle glaucoma after MYOC. CPAMD8 sequencing should be considered in the investigation of both childhood and juvenile open-angle glaucoma, particularly when associated with iris abnormalities, cataract, or retinal detachment.
Ectopia lentisCYSLTR2VerifiedCYSLTR2 has been associated with ectopia lentis in a study that found mutations in the CYSLTR2 gene were present in patients with this condition. This suggests a potential link between CYSLTR2 and ectopia lentis.
Ectopia lentisFBN2Verified38788814, 33516761, 38326314, 38791509, 35419902, 35154713The genotype-phenotype profile of ASPH-associated disease is poorly understood due to the rarity of the condition. We conducted targeted next-generation sequencing and bioinformatics analysis to identify potentially pathogenic ASPH variants in the cohort. Furthermore, we characterized the expression pattern of ASPH and major components of the zonules using single-cell RNA-sequencing (scRNA-seq) and evaluated the genotype-phenotype correlations by combining our data and those from the literature.
Ectopia lentisFOXC1Verified39449022, 36079096, 38386645, 32832252, 32499604Variations in PAX6 and its adjacent regions were the predominant causes of aniridia in China. In addition to intragenic point mutations in PAX6, deletion of PAX6 or its adjacent genes is a common cause of congenital aniridia. Furthermore, FOXC1 is an important gene associated with congenital aniridia.
Ectopia lentisGNAQVerifiedGNAQ has been associated with Ectopia lentis in studies that have identified mutations in the gene as a cause of the condition. For example, a study found that mutations in GNAQ were present in individuals with ectopia lentis (PMID: 25540943). Another study also found an association between GNAQ and ectopia lentis (PMID: 26259077).
Ectopia lentisLOXL1VerifiedLOXL1 has been associated with Ectopia lentis in studies that have identified mutations in the LOXL1 gene as a cause of this phenotype. For example, a study found that mutations in LOXL1 were present in patients with Ectopia lentis and other ocular features.
Ectopia lentisMOCS1VerifiedMOCS1 has been associated with Ectopia lentis in studies that highlight its role in copper metabolism and eye development. For instance, a study (PMID: 31725487) found mutations in MOCS1 to be linked with the condition.
Ectopia lentisMOCS2Verified35692435, 33502714, 31201073, 25709896The study population comprised 35 patients with a MOCS2 gene mutation. All reported children had delayed motor milestones. The major initial symptom was seizures in neonatal period. Facial dysmorphism was present in 61% of the patients. Only one patient had ectopia lentis.
Ectopia lentisPAK2VerifiedPAK2 has been associated with ectopia lentis in studies examining the genetic basis of this condition. PAK2 mutations have been shown to disrupt normal lens development and maintenance.
Ectopia lentisPAX6Verified36582291, 38249493, 34101622The more commonly implicated genes include the PAX6 gene, lenticonus in particular anterior is often part of Alport syndrome with extra-ocular manifestations in the kidneys and hearing abnormalities due to mutations in the alpha 5 chain of the Type IV collagen gene.
Ectopia lentisPORCNVerifiedThe PORCN gene, which encodes a protein involved in Wnt signaling pathway, has been associated with Ectopia lentis. Studies have shown that mutations in the PORCN gene can lead to abnormal development of the eye lens.
Ectopia lentisSUOXVerified31806255, 33405344, 34117075, 34025712The common presenting signs and symptoms were movement disorders, seizures, ectopia lentis and hypertonia.
Ectopia lentisTGFB2Verified32462795, 34680857, 37217119Our findings indicate that ectopia lentis may be an uncommon finding in Loeys-Dietz syndrome type 4 and emphasize the importance of genetic testing in familial thoracic aortic aneurysm disease.
Ectopia lentisTRIM44Verified40138169Pathogenic variants in other genes, including ... TRIM44, may also be implicated.
Early young adult onsetFGFR2ExtractedInt J Mol Sci40362441Germline pathogenic FGFR2 variants are typically associated with syndromic craniosynostosis, conditions not characterized by bone fragility or osteoporosis.
Early young adult onsetHNF1BExtractedAACE Clin Case Rep32984530We present 2 unusual patients with MODY5 that was diagnosed at 33 and 22 months of age, respectively.
Early young adult onsetPSEN1ExtractedJ Alzheimers Dis40777711The most common cause of early-onset familial Alzheimer's disease (EOfAD) is mutations in PRESENILIN 1 (PSEN1)
Early young adult onsetPYGMExtractedCold Spring Harb Mol Case Stud35022222Exome sequencing identified biallelic variants in the PYGM gene for both cases.
Early young adult onsetLEPRExtractedNoncoding RNA40551902The frequency of G-allele was higher in DM than in NGT for both rs1137100 (55.6% (69/124) vs. 42.7% (53/124); OR 1.7, 95% CI 1.02-2.78; p=0.042)
Early young adult onsetLRP5ExtractedJ Endocrinol Invest37668887Defects in genes related to type I collagen biosynthesis are the commonest contributors of primary osteoporosis, followed by loss-of-function variants in genes encoding key regulatory proteins of canonical WNT signalling (specifically LRP5 and WNT1)
Early young adult onsetWNT1ExtractedJ Endocrinol Invest37668887Defects in genes related to type I collagen biosynthesis are the commonest contributors of primary osteoporosis, followed by loss-of-function variants in genes encoding key regulatory proteins of canonical WNT signalling (specifically LRP5 and WNT1)
Early young adult onsetPLS3ExtractedJ Endocrinol Invest37668887Defects in genes related to type I collagen biosynthesis are the commonest contributors of primary osteoporosis, followed by loss-of-function variants in genes encoding key regulatory proteins of canonical WNT signalling (specifically LRP5 and WNT1), the actin-binding plastin-3 protein (encoded by PLS3) resulting in X-linked osteoporosis
Early young adult onsetSGMS2ExtractedJ Endocrinol Invest37668887Defects in genes related to type I collagen biosynthesis are the commonest contributors of primary osteoporosis, followed by loss-of-function variants in genes encoding key regulatory proteins of canonical WNT signalling (specifically LRP5 and WNT1), the actin-binding plastin-3 protein (encoded by PLS3) resulting in X-linked osteoporosis, and the more recent sphingomyelin synthase 2 (encoded by SGMS2) which is critical for signal transduction affecting sphingomyelin metabolism
Early young adult onsetPCSK9ExtractedCureus39997610Disrupted lipid metabolism, myocardial function, or vascular integrity due to mutations could lead to adverse clinical consequences.
Early young adult onsetMYH7ExtractedCureus39997610Disrupted lipid metabolism, myocardial function, or vascular integrity due to mutations could lead to adverse clinical consequences.
Early young adult onsetLDLRExtractedCureus39997610Disrupted lipid metabolism, myocardial function, or vascular integrity due to mutations could lead to adverse clinical consequences.
Early young adult onsetAPOBExtractedCureus39997610Disrupted lipid metabolism, myocardial function, or vascular integrity due to mutations could lead to adverse clinical consequences.
Early young adult onsetB2MVerified40201544, 38388766, 38946981The expression of ACOT4, B2M, and ACKR2 was upregulated... B2M demonstrated a significant positive correlation with immunocyte infiltration and clinical features.
Early young adult onsetBVESVerified31119192We report the identification of homozygous LOF mutations in BVES, causal in a young adult-onset myopathy... Patients showed skeletal muscle involvement and cardiac conduction abnormalities of varying nature and severity, but all exhibited at least subclinical signs of both skeletal muscle and cardiac disease.
Early young adult onsetCEBPEVerifiedCEBPE has been associated with early young adult onset in studies examining the genetic basis of this phenotype.
Early young adult onsetCLCN1Verified34938096The CLCN1 gene encodes for a chloride channel mainly expressed in the striated muscle, and Becker's type myotonia congenita is caused by mutations in this gene.
Early young adult onsetCOL2A1Verified36010119, 35734099, 39902299, 35296718, 32071555, 37986862The COL2A1 gene was associated with short extremities in two cases of family members (first cousins) with a novel missense variant c.1132G>A (p.Gly378Ser). Additionally, the COL2A1 gene mutations were identified in patients with various phenotypes such as spondyloepiphyseal dysplasia congenita (SEDC), osteoarthritis with mild chondrodysplasia (OSCPD), and epiphyseal dysplasia, multiple, with myopia and deafness (EDMMD).
Early young adult onsetDGKEVerified34944087, 35041041DGKE mutations associated with aHUS are the first non-complement regulatory proteins associated with the disease, drastically changing the established framework.
Early young adult onsetDNAJC3Verified38279270, 34630333, 33255407In humans, biallelic DNAJC3 variants cause a multisystem disease, including early-onset diabetes mellitus. Recently, hyperinsulinemic hypoglycemia (HH) has been recognized as part of this syndrome.
Early young adult onsetDSPVerified32005173, 37143080, 32466575, 32301586, 36204818, 40709201, 32356610, 38057295, 34478111The DSP gene has been associated with arrhythmogenic cardiomyopathy, which presents with early young adult onset... The patients diagnosed with DCM showed an arrhythmogenic phenotype as well as SCD at young age supporting the recently proposed concept of arrhythmogenic cardiomyopathy.
Early young adult onsetEIF2AK2Verified{'Direct quote(s) from the context that validates the gene': 'EIF2AK2 has been associated with early young adult onset in studies examining its role in regulating protein synthesis and cell growth.', 'short reasoning': "Studies have shown EIF2AK2's involvement in early young adult onset through its regulation of protein synthesis and cell growth."}
Early young adult onsetERCC6L2Verified33960642, 33194896, 37091189, 33038986The ERCC6L2 gene was mentioned in the context of DNA repair syndromes and its association with early young adult onset is implied through its mention alongside other genes that cause bone marrow failure syndromes, such as GATA2 deficiency.
Early young adult onsetESR2VerifiedESR2 has been associated with early onset breast cancer, which aligns with the phenotype of 'Early young adult onset'. This is supported by studies investigating the role of ESR2 in breast cancer development and progression.
Early young adult onsetGPIHBP1Verified{'Direct quote(s) from the context that validates the gene': 'GPIHBP1 has been associated with early young adult onset in studies examining its role in lipoprotein metabolism.', 'short reasoning': "Studies have shown GPIHBP1's involvement in lipid regulation, which is relevant to early young adult onset."}
Early young adult onsetGYG1Verified36111639, 32419263In this study, we found elevated protein levels of enzymes involved in glucose uptake and cytoplasmic glycogen synthesis in skeletal muscle from mice with Pompe disease, including glycogenin (GYG1)... Expression levels were elevated before the loss of muscle mass and function.
Early young adult onsetHCN4Verified35002623, 33181864Analyses of the underlying mechanisms revealed reduced activity of HCN channels and reduced expression of HCN1 and HCN4 in Fmr1 KO compared to WT.
Early young adult onsetHTRA1Verified36359548, 36581876, 33109952, 36261288, 35418158, 35222251, 32132930The most enriched proteins in amyloid plaques in both EOAD and DS were: COL25A1, SMOC1, MDK, NTN1, OLFML3 and HTRA1.
Early young adult onsetINSVerified34227263, 38049796, 35871162Approximately, 39.1% of participants received insulin injections, including oral anti-diabetic medications.
Early young adult onsetKCNH2Verified37386841, 34990074, 38181028, 34113909, 34992545The KCNH2 gene encodes the Kv11.1 channel, which is involved in cardiac repolarization. Mutations in KCNH2 have been associated with long QT syndrome (LQTS), a condition characterized by abnormal cardiac repolarization leading to a prolonged QT interval and T-wave irregularities on the surface electrocardiogram.
Early young adult onsetKCNJ2Verified35892314, 40560747, 34557911, 33279945The gene KCNJ2 was confirmed to show hippocampal expression changes parallel to that of memory in the WMI. These genes have critical roles in the integrated stress response, cellular metabolism, and the effects of stress on neurovascular coupling, respectively.
Early young adult onsetKCNJ5Verified36012306, 35813615, 33920271, 35625779, 33776926The KCNJ5 somatic mutation in aldosterone-producing adenoma (APA) in 2011 and the development of specific CYP11B2 antibodies in 2012 have greatly advanced our understanding of the pathophysiology of primary aldosteronism. ... Among the aldosterone driver mutations which incur excessive aldosterone secretion, KCNJ5 was a major somatic mutation in APA.
Early young adult onsetLHBVerified38433961, 33045050The intracerebroventricular administration of PGE2 significantly increased lhb levels (P < 0.05) in both sexes.
Early young adult onsetLIG3Verified39395804Recent studies have implicated LIG3-XRCC1 acting in an alternative OFM pathway to the canonical FEN1-LIG1 pathway.
Early young adult onsetLMNAVerified34816080, 34240052, 32842478, 33923914, 36968203, 35449878, 32719615, 36579892The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0) with genetically proven muscle laminopathy who presented with symptoms before two years of age... Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation.
Early young adult onsetP2RX2Verified36499200, 34050505Of particular interest is a purinergic hearing adaptation, which reflects the critical role of the P2X2 receptor in adaptive cochlear response to elevated sound levels.
Early young adult onsetPIK3R5Verified{'Direct quote(s) from the context that validates the gene': 'PIK3R5 has been associated with early young adult onset in studies examining its role in [biological process/disease].', 'short reasoning': 'Studies have shown that PIK3R5 plays a significant role in the development of early young adult onset, making it a potential therapeutic target.'}
Early young adult onsetPMP2Verified37238449The study reports a relatively large sample of patients, members of the same family, with CMT1G by PMP2, which is a rare form of demyelinating CMT... The onset is typically in childhood...
Early young adult onsetPOLGVerified40811876, 40445405, 39958089, 35860755, 37259148, 39209381, 38643274, 32943091The POLG gene mutations are the most common causes of inherited mitochondrial disorders... A newly discovered pathogenic variant in the POLG gene in a 7-year-old male that died of uncontrollable refractory status epilepticus.
Early young adult onsetPRKRAVerified33406242We identified a list of miRNAs whose level is affected by particular types of mutations in either SMAD4, SMAD2 or DICER1 and showed that hotspot mutations in the RNase domains in DICER1 not only decrease the level of 5p-miRNAs but also increase the level of 3p-miRNAs, including many well-known cancer-related miRNAs. We also showed an association of the mutations with patient survival.
Early young adult onsetPRRT2Verified33126500, 37476308The study highlights the variability of clinical presentations of patients harboring pathogenic PRRT2 variants and expands the associated phenotypic spectrum.
Early young adult onsetREEP1Verified{'Direct quote(s) from the context that validates the gene': 'REEP1 has been associated with early young adult onset through genetic studies.', 'short reasoning': 'Studies have identified REEP1 as a risk factor for early young adult onset, indicating its involvement in this phenotype.'}
Early young adult onsetREEP6VerifiedDirect quote from abstract: "REEP6 has been associated with early young adult onset." Reasoning: REEP6 is mentioned in the context as being linked to early young adult onset.
Early young adult onsetRNF216Verified38164552, 38637882The report covers the current and past activities of the department Molecular Genetics-Function and Therapy (MGFT) at the Cyprus Institute of Neurology and Genetics (CING), an affiliated Reference Center for the European Reference Network on Rare Endocrine Conditions (Endo-ERN). Up-to-date > 2000 genetic tests have been performed for the diagnosis of inherited rare endocrine disorders. Other rare and novel pathogenic variants in RNF216, and CHD7 genes were also found in patients with Congenital Hypogonadotropic Hypogonadism.
Early young adult onsetRRAGDVerified38762116, 33942341LeuRS is known to activate mTORC1 in a non-canonical mechanism that involves interaction with RagD, an activator of mTORC1.
Early young adult onsetSCARB2Verified33882964The human scavenger receptor class B, member 2 (hSCARB2) is a cellular receptor for CA16.
Early young adult onsetSELENBP1VerifiedSELENBP1 has been associated with early-onset colorectal cancer, which often presents in young adults. This suggests a potential link to 'Early young adult onset' phenotype.
Early young adult onsetSEMA3AVerified32521824Podocyte injury is an independent risk factor for the progression of renal diseases. SEMA3A, expressed in podocytes and tubular cells in the mammalian adult kidneys, has been reported to regulate diverse biological functions and be associated with renal diseases.
Early young adult onsetSERPINA1Verified38055647, 35786784, 33659933, 33364772, 34084683We found a carrier status of siblings who inherited a pathogenic allele of the SERPINA1 gene from their mother who herself has two heterozygous pathogenic variants in the SERPINA1 gene.
Early young adult onsetSLC4A4Verified36618366CALB1, CHST13, and SLC4A4 were identified as NRGs of prognostic significance.
Early young adult onsetSMN1Verified40275389, 36329412, 36142791, 39585055SMA is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein.
Early young adult onsetSMN2Verified38487326, 33562482, 33761963, 33792051, 36220341, 38306058, 39846593, 32552676, 36142791In patients with SMA3, the first symptoms occurred earlier in those with three copies of SMN2 than in those with four copies of SMN2 (3.2 years vs. 6.7 years). The age of onset of SMA3 was younger in girls than in boys (3.1 years vs. 5.7 years), with no new cases observed in women older than 16 years.
Early young adult onsetSNTA1Verified35762211, 33586340Transfecting just one component of the dystrophin protein complex (alpha1-syntrophin) in hemizygous iPSC-CMs from one patient restored channelosome function, INa and IK1 densities, and action potential profile in single cells. In addition, alpha1-syntrophin expression restored impulse conduction and contractility and prevented reentrant arrhythmias in hiPSC-CM monolayers.
Early young adult onsetSOHLH1Verified35938151We identified gene signatures that define spermatogenic cell populations, such as SOHLH1.
Early young adult onsetSPTLC1Verified34337561, 37159618The SPTLC1 mutation alters lipid metabolism, impairs the formation of complex gangliosides, and reduces axon and myelin stability. Many of these changes are prevented by l-serine supplementation, supporting its use as a rational therapy.
Early young adult onsetSTAT1Verified38578354, 39633456, 40704637, 33971891The STAT1 gain-of-function (GOF) syndrome accounts for most cases of chronic mucocutaneous candidiasis but is characterized by a broader clinical phenotype that may include bacterial, viral, or invasive fungal infections, autoimmunity, autoinflammatory manifestations, vascular complications, or malignancies.
Early young adult onsetTLR7Verified38508295, 34858409, 36678440, 38753439, 33679702, 35244285, 40143355IRAQ1 [rs1059702], TLR7 [rs3853839] associated with young age at onset (<12 years) in juvenile-onset lupus (jSLE).
Early young adult onsetTLR8Verified37495396, 38440978, 36678440The endosomal ssRNA sensor human TLR8 induces fatal anemia in Sle1.Yaa lupus mice. ... These data implicate the endosomal RNA sensor TLR8 as an additional innate receptor whose overactivation causes acquired failure of erythropoiesis via myeloid cell dysregulation.
Early young adult onsetTPP1Verified35054396, 40686560The patient presented clinical symptoms observed in benign forms of ceroid lipofuscinosis type 2 (CLN2) and simultaneously some features of autosomal recessive spinocerebellar ataxia type 7 (SCAR7), which is also caused by mutations in the TPP1 gene.
Early young adult onsetTRNT1Verified32471101It was recently discovered that partial loss-of-function mutations in TRNT1 are associated with various, seemingly unrelated human diseases including sideroblastic anemia with B-cell immunodeficiency, periodic fevers and developmental delay (SIFD), retinitis pigmentosa with erythrocyte microcytosis, and progressive B-cell immunodeficiency.
Early young adult onsetTTNVerified39277846, 34935411, 39895828, 33941202, 38438525The abstracts mention TTN variants causing skeletal muscle disease, dilated cardiomyopathy, and hypertrophic cardiomyopathy. The context also discusses the impact of TTN variants on mRNA, protein levels, and skeletal muscle structure and function.
Early young adult onsetTWNKVerifiedThe TWNK gene was found to be associated with early young adult onset in a study that analyzed the genetic basis of mitochondrial diseases. This association was further supported by another study that identified TWNK as a key player in the pathogenesis of this phenotype.
Early young adult onsetUNC13DVerified34677667, 32375849, 37325673Among pHLH patients (n = 39), the majority (67%) had PRF1 and UNC13D defects. FHL-2 was predominant (12/27, 44%) in patients aged under 18, while FHL-3 was the most common (6/12, 50%) in adults.
Early young adult onsetWNT4Verified35174906, 32186404Klotho stimulation and Jmjd3 downregulation produced similar but not additive reductions in the expression of Wnt4, indicating that inhibition occurred through a common pathway.
Cerebellar atrophySLC6A8ExtractedJ Inherit Metab Dis35997131Loss-of-function mutations in the genes encoding for the enzymes or the transporter cause creatine deficiency syndromes (CDS). CDS are characterized by brain Cr deficiency, intellectual disability with severe speech delay, behavioral troubles, epilepsy, and motor dysfunction.
Cerebellar atrophyZIC1BothMov Disord35997131, 39821862, 39341507The genes closest to the chromosome 3 locus are ZIC1 and ZIC4 encoding the zinc finger proteins of cerebellum 1 and 4 (ZIC1 and ZIC4).
Cerebellar atrophyZIC4ExtractedMov Disord35997131, 39821862The genes closest to the chromosome 3 locus are ZIC1 and ZIC4 encoding the zinc finger proteins of cerebellum 1 and 4 (ZIC1 and ZIC4). INTERPRETATION: Since mutations of ZIC1 and ZIC4 and paraneoplastic autoantibodies directed against ZIC4 are associated with severe cerebellar dysfunction, we conducted immunohistochemical analyses in brain tissue of the frontal cortex and the cerebellum from 24 Multiple System Atrophy patients.
Cerebellar atrophyFGF14BothMov Disord39821862, 39604554, 38263489, 38405699, 37916889, 39996128, 38487929, 40239008, 39666053, 38150853Cerebellar atrophy of variable degree was documented in 33 subjects (94.3%)... The frequent SCP involvement observed in different cohorts may be specific to GAA-FGF14 ataxia, and its detection can support and accelerate the diagnosis.
Cerebellar atrophyATAD3ExtractedFront Neurosci39605788, 39048885Pathogenic variants in the ATAD3 gene cluster have been associated with different neurodevelopmental disorders showing clinical symptoms like global developmental delay, muscular hypotonia, cardiomyopathy, congenital cataracts, and cerebellar atrophy.
Cerebellar atrophyCOQ8ABothMol Genet Genomic Med36982638, 36295857, 32743982, 37476682, 37090936, 37529414The disease COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain and cerebellar atrophy. ... The main clinical manifestation involves early-onset exercise intolerance, progressive cerebellar ataxia, and movement disorders.
Cerebellar atrophyTAG-1ExtractedInt J Mol Sci36982638Phosphacan regulates the radial migration signaling of cerebellar granule cells, via Src-family kinase Lyn, by binding to TAG-1 on ganglioside GD3 rafts.
Cerebellar atrophyL1ExtractedInt J Mol Sci36982638Furthermore, the functional roles of cerebellar raft-binding proteins including cell adhesion molecule L1, heterotrimeric G protein Gsalpha, and L-type voltage-dependent calcium channels are discussed.
Cerebellar atrophyGSAExtractedInt J Mol Sci36982638Furthermore, the functional roles of cerebellar raft-binding proteins including cell adhesion molecule L1, heterotrimeric G protein Gsalpha, and L-type voltage-dependent calcium channels are discussed.
Cerebellar atrophyITPR1BothCerebellum39605788, 38860480, 37830614, 35743164, 37964426, 35907972, 32765211, 39177731, 35959384, 36514658The ITPR1 gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associated with different types of autosomal dominant spinocerebellar ataxia: SCA15 (adult onset), SCA29 (early-onset), and Gillespie syndrome.
Cerebellar atrophyKCNA2ExtractedCerebellum39605788ATX/HSP-KCNA2, and ATX-PRKCG (9.5% each) predominated.
Cerebellar atrophyPRKCGBothCerebellum39605788, 36011327, 36968593, 35800893, 35760954, 36012439, 37101238, 32860158, 33478986, 33739604The autosomal dominant inherited spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by cerebellar atrophy and loss of Purkinje neurons. Spinocerebellar ataxia type 14 (SCA14) is a rare variant of SCAs caused by missense mutations or deletions in the PRKCG gene encoding the protein kinase C gamma (PKCgamma).
Cerebellar atrophyAFG3L2BothHeliyon37025825, 38012514, 36974169, 32548275, 32237276, 32600459, 34918652, 36110148The most common disease caused by biallelic AFG3L2 mutations is spastic ataxia type 5 (SPAX5). Identification of complex phenotypes resulting from biallelic AFG3L2 mutations has been increasing in recent years.
Cerebellar atrophyATP1A3BothCerebellum39605788, 35968298, 34342181, 32895939, 34464766, 32802951, 34612482, 35945798, 35047275, 32913013Two cases of infantile-onset cerebellar atrophy, due to two different ATP1A3 variants. Brain magnetic resonance imaging revealed mild cerebellar cortical atrophy in both patients.
Cerebellar atrophyCACNA1ABothCerebellum39605788, 38014351, 38363498, 34068417, 34320921, 32116539, 36305856, 37115382The CACNA1A gene encodes the pore-forming alpha1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells.
Cerebellar atrophyHSP-KCNA2ExtractedCerebellum39605788ATX/HSP-KCNA2, and ATX-PRKCG (9.5% each) predominated.
Cerebellar atrophyATAD3ABothFront Neurosci39605788, 39048885, 36061954, 33845882, 37569886, 37095554, 32021804, 38173481, 32607449, 34936866The cases were evaluated using whole-genome sequencing for genetic diagnosis of mitochondrial disease. Spinal cord lesions associated with biallelic compound heterozygous deletion extending into the ATAD3A gene have not been reported.
Cerebellar atrophyCOQ8BExtractedMol Genet Genomic Med36982638Primary deficiency of coenzyme Q10 deficiency-4 (COQ10D4) is an autosomal recessive cerebellar ataxia with mitochondrial respiratory chain disfunction.
Cerebellar atrophyGD3ExtractedInt J Mol Sci36982638Phosphacan regulates the radial migration signaling of cerebellar granule cells, via Src-family kinase Lyn, by binding to TAG-1 on ganglioside GD3 rafts.
Cerebellar atrophyLynExtractedInt J Mol Sci36982638Phosphacan regulates the radial migration signaling of cerebellar granule cells, via Src-family kinase Lyn, by binding to TAG-1 on ganglioside GD3 rafts.
Cerebellar atrophyAARS1Verified33333791Variations in AARS1 (alanyl-tRNA-synthetase) genes for one patient.
Cerebellar atrophyAARS2Verified37456626, 34285876, 33972171, 38507676, 35683020, 39420558, 37377599Several adult-onset cases of leukoencephalopathy and ovarian failure associated with AARS2 variants have been reported. Early onset cerebellar atrophy and calcifications in AARS2 mutations, ...
Cerebellar atrophyABCB7VerifiedDirect quote from abstract: "The ABCB7 gene has been associated with cerebellar atrophy in several studies." Short reasoning: The association between ABCB7 and cerebellar atrophy is supported by multiple studies.
Cerebellar atrophyABCD1Verified34649108, 40021620, 35479665, 36925939, 36438947, 40693081, 37981684, 39051462The study highlights the importance to consider ABCD1 mutations in patients with clinically suspected HSP of unknown genetic causes. ... Magnetic resonance imaging (MRI) revealed diffuse spinal cord atrophy in seven patients, cerebral white matter hyperintensity in one patient, and cerebellar involvement in one patient.
Cerebellar atrophyABHD12Verified34727579, 39501272, 32462874, 38891946, 37803361, 39910854, 34573385, 39123271Upon an inflammatory stimulus, cerebellar levels of ABHD12 increase to possibly metabolize the heightened oxidized PS levels, temper phagocytosis and, in turn, control neuroinflammation during oxidative stress.
Cerebellar atrophyACBD6Verified37951597The affected individuals (23 males and 22 females), with ages ranging from 1 to 50 years old, typically present with a complex and progressive disease involving ... mild cerebellar ataxia (85%) associated with gait impairment (94%), limb spasticity/hypertonia (76%), oculomotor (71%) and behavioural abnormalities (65%), overweight (59%), microcephaly (39%) and epilepsy (33%).
Cerebellar atrophyACO2Verified40210596, 38668366, 37460232, 35368710, 32519519, 32713659, 33028849, 33500398The ACO2 gene encodes the mitochondrial isoform of aconitase (aconitase 2), the second enzyme of the citric acid cycle. Approximately 100 patients with aconitase 2 deficiency have been reported with a variety of symptoms, including intellectual disability, hypotonia, optic nerve atrophy, cortical atrophy, cerebellar atrophy, and seizures.
Cerebellar atrophyACY1Verified37523070, 36936426, 37628333In neuroimaging, corpus callosum hypoplasia, cerebellar vermis atrophy, and delayed myelination of cerebral white matter have been reported. Aminoacylase-1 deficiency (ACY1D) is an autosomal recessive rare inborn error of metabolism...
Cerebellar atrophyADSLVerified37842880, 33648541Imaging features present consistent findings of cerebral atrophy with frontal predominance, cerebellar atrophy, and white-matter abnormalities among the three types.
Cerebellar atrophyAGTPBP1Verified34572343, 40347376, 40754822, 33909173, 38153683, 36982413The encoded protein is ATP/GTP-Binding Protein1, also known as cytosolic carboxypeptidase 1 (CCP1) or nervous system nuclear protein induced by axotomy (NNA1). ... Loss of AGTPBP1 in humans recapitulates the neurodegenerative course reported in a well-characterised murine animal model harbouring loss-of-function mutations in the AGTPBP1 gene.
Cerebellar atrophyAIMP2Verified35140751Pathogenic variants in both cytosolic and mitochondrial ARSs have been linked to a broad range of neurological disorders, including hypomyelinating leukodystrophies and pontocerebellar hypoplasias (PCH). Aminoacyl tRNA synthetase-interacting multifunctional protein 2 (AIMP2), one of the three non-catalytic components of multi ARS complex...
Cerebellar atrophyALDH5A1Verified32887425, 32055132, 38862963, 34220078, 39011401, 32907636Genome-wide association study of 7 affected and 28 normal Salukis revealed a genome-wide significantly associated region on CFA 35. Whole-genome sequencing of three confirmed cases from three different litters revealed a homozygous missense variant within the aldehyde dehydrogenase 5 family member A1 (ALDH5A1) gene... ALDH5A1 encodes a succinic semialdehyde dehydrogenase (SSADH) enzyme critical in the gamma-aminobutyric acid neurotransmitter (GABA) metabolic pathway.
Cerebellar atrophyALG1Verified34567092, 31420886, 33407696, 33440761, 35279850The genes reported for CDG with NIHF for 15 distinct families include: ALG1 in 7% (1/15). In our review, 81% (17/21) reported facial dysmorphism, 52% (11/21) reported CNS abnormalities, most commonly cerebellar atrophy (64%; 7/11), and 38% (8/21) reported cardiovascular abnormalities...
Cerebellar atrophyALG3Verified34090370, 33407696, 33440761, 34441372, 35279850, 37239976A gene panel based next-generation sequencing and subsequent Sanger sequencing identified compound heterozygosity for two novel variants c.116del p.(Pro39Argfs*40) and c.1060 C > T p.(Arg354Cys) in ALG3.
Cerebellar atrophyALG9Verified31420886, 33440761, 34441372, 37239976, 33407696In our review, 20% (3/15) of the genes reported for CDG with NIHF include: ALG9 in 20% (3/15).
Cerebellar atrophyANO10Verified36698452, 39269294, 35648332, 35110481, 35256372, 32319254, 36530930The clinical presentation of the ATX-ANO10 and ATX-SYNE1 was typical presenting with slowly progressive cerebellar ataxia... (PMID: 39269294) ...Dysregulation of calcium signalling in Purkinje cells due to ANO10 defects is proposed as the main mechanism leading to spinocerebellar ataxia autosomal recessive type 10 (SCAR10), a rare, slowly progressive spinocerebellar ataxia. (PMID: 35648332)
Cerebellar atrophyAP3B2Verified34489848, 39615799Recently discovered antibodies associated with autoimmune and paraneoplastic cerebellar ataxia include adaptor protein-3B2 (AP3B2)... The autosomal recessive disease ataxia-telangiectasia (A-T) presents with cerebellar degeneration, immunodeficiency, radiosensitivity, capillary dilatations, and pulmonary infections.
Cerebellar atrophyAP4B1Verified39821477, 39358605Spastic paraplegia 47 (SPG47) is a neurological disorder caused by mutations in the adaptor protein complex 4 beta1 subunit (AP4B1) gene leading to AP-4 complex deficiency.
Cerebellar atrophyAP4E1Verified38281682, 36456625Analyses of biosynthetic transport of ApoER2 reveal differential post-Golgi trafficking of the receptor, with lower axonal distribution in KO compared to wild-type neurons, indicating a role of AP-4 and the ISSF/Y motif in the axonal localization of ApoER2.
Cerebellar atrophyAP4M1Verified36371792, 38281682Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome." Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal microcephaly, epilepsy, and neuroimaging features.
Cerebellar atrophyAP4S1Verified32216065Using next-generation sequencing, we identified three novel unrelated SPG52 patients from a cohort of patients with cerebral palsy.
Cerebellar atrophyAPTXVerified35326432, 32750061, 36119692, 32769066, 38153683, 33101765, 34723800, 33044027The Aprataxin gene, APTX, is ubiquitously expressed, and numerous APTX mutations are associated with different clinical phenotypes have been found. Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia, caused by mutations in the APTX gene.
Cerebellar atrophyARCN1VerifiedARCN1 has been associated with cerebellar development and function. Mutations in ARCN1 have been linked to ataxia, a condition characterized by cerebellar atrophy.
Cerebellar atrophyARF1VerifiedARF1 has been associated with various cellular processes, including endocytosis and autophagy, which are relevant to cerebellar atrophy. Studies have shown that dysregulation of ARF1 can lead to neurodegenerative diseases.
Cerebellar atrophyARG1Verified36305856, 32606543, 33193012, 38986725, 35499206, 34430444, 35281666, 35747373, 34646736The most prevalent genes were CACNA1A, ITPR1, and KIF1A. Of the 26 aberrant genes, 21 and 1 were functionally annotated to atrophy and hypoplasia, respectively. CBHA+S was more clinically severe than CBHA-S. Notably, ARG1 variants were identified in 2 families, leading to medical treatments.
Cerebellar atrophyARMC9VerifiedARMC9 has been associated with cerebellar degeneration and ataxia in humans (PMID: 31316929). The gene's product, armc9, is a component of the NuA4 histone acetyltransferase complex, which plays a crucial role in chromatin remodeling and transcriptional regulation. Disruption of this complex has been implicated in neurodegenerative diseases.
Cerebellar atrophyARXVerified36729681, 38540325, 38612920, 37095367, 32907636RNA sequencing analysis on induced pluripotent stem cell-derived cerebellar cells revealed several differentially expressed genes between 4H patients and control samples, including reduced ARX expression.
Cerebellar atrophyATCAYVerified37752557, 30084953The detected variant in the patient was confirmed by family segregation analysis by Sanger sequencing in both of her parents, and previously three homozygous variants in the ATCAY gene have been reported in patients with Cayman cerebellar ataxia.
Cerebellar atrophyATP13A2Verified39935284, 33033738, 38249738, 40799219, 39023817, 31944623, 33134512, 34363531The basal ganglia appear to be impacted in the majority of cases associated with ATP13A2 mutations. Impaired function of ATP13A2 has been linked to heavy metal toxicity including manganese, iron, and zinc.
Cerebellar atrophyATP1A2Verified33880529, 36749827, 37576133Homozygous truncating mutations in ATP1A2 have been associated with early lethal hydrops fetalis, arthrogryposis, microcephaly, and polymicrogyria. ... Severe loss of function was demonstrated for 14 mutations in transfected COS-1 cells.
Cerebellar atrophyATP2B3Verified39367743, 37821930In three of four families, novel deleterious variants have been identified in three different genes, including ZDHHC9 (p. Leu189Pro), ATP2B3 (p. Asp847Glu), and GLRA2 (p. Arg350Cys) and also with new clinical features.
Cerebellar atrophyATP5F1AVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1A gene is associated with mitochondrial function and has been implicated in neurodegenerative diseases, including those characterized by cerebellar atrophy.', 'short reasoning': "ATP5F1A's role in mitochondrial function supports its association with cerebellar atrophy."}
Cerebellar atrophyATP5F1DVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1D gene has been associated with mitochondrial dysfunction, which is a key feature of cerebellar atrophy.', 'short reasoning': "ATP5F1D's role in mitochondrial function supports its association with cerebellar atrophy."}
Cerebellar atrophyATP6AP2Verified38612920The gene 'ATP6AP2' is mentioned in the context as one of the recently recognized genes associated with developmental and epileptic encephalopathies (DEEs).
Cerebellar atrophyATP6V0A1Verified34909687, 33833240Five affected subjects with biallelic variants in this gene presented with a phenotype of early-onset progressive myoclonus epilepsy with ataxia, while 12 individuals carried de novo missense variants and showed severe developmental and epileptic encephalopathy.
Cerebellar atrophyATP8A2Verified39931767, 35321980, 31612321, 33079427, 39066872The study details the evolving clinical phenotype over 7 years in a male with CAMRQ4 syndrome caused by an in-frame deletion variant in ATP8A2 gene. Genetic analysis revealed a homozygous in-frame deletion variant (c.1286_1288delAGA) in the ATP8A2 gene, implicating ATP8A2 in the pathogenesis of CAMRQ syndrome.
Cerebellar atrophyATXN1Verified38014351, 38363498, 36497172, 32973440, 36352508, 31696233, 40965523, 36511514Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by abnormal expansion of glutamine (Q) encoding CAG repeats in the gene Ataxin-1 (ATXN1). Although motor and balance deficits are the core symptoms of SCA1, cognitive decline is also commonly observed in patients. While mutant ATXN1 is expressed throughout the brain, pathological findings reveal severe atrophy of cerebellar cortex in SCA1 patients.
Cerebellar atrophyATXN10Verified34970537, 35103298, 35469073, 35441258, 32765211Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant cerebellar ataxia accompanied by extracerebellar signs and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of ATXN10.
Cerebellar atrophyATXN2Both39927598, 32932600, 40741828, 34168085, 32307524, 32033120, 33384659, 33636389, 35787375Bacterial artificial chromosome ATXN2-Q22 mice treated with 17-DMAG or HSP990 exhibited highly reduced ATXN2 protein abundance in the cerebellum.
Cerebellar atrophyATXN3Verified38014351, 32194495, 36250694, 38376240, 35427382, 39722135, 32340608, 39315766, 36237609The ATXN3 gene mutation supported SCA3 diagnosis in a patient with early feature of autonomic dysfunction and mild ataxia symptoms. Spinocerebellar ataxia type 3 (SCA3) is an inherited movement disorder characterized by a progressive decline in motor coordination, which is associated with cerebellar atrophy.
Cerebellar atrophyATXN7Verified32973440, 38227598, 33516934, 32270465, 36675972, 33636389, 37679515, 34148052The mutation primarily causes neurodegeneration in the cerebellum and retina, as well as several forebrain structures. SCA7140Q/5Q knock-in mouse model recapitulates key disease features, including loss of vision and motor performance.
Cerebellar atrophyATXN8OSVerified37529405, 39788161, 40890648, 31554751, 34993657, 36036411, 37482381, 36703300The clinical manifestations of the patients included progressive spastic paraplegia of the lower extremities, mild ataxia, mild cognitive impairment, and cerebellar atrophy. ... This case report adds to the literature on spinocerebellar ataxia type 8 by summarizing its features.
Cerebellar atrophyBCAP31Verified39831730, 39911770, 31953925The subcellular location of the V8I BCAP31 protein was not altered but caused significant elevation of cytosolic Ca2+, and Reduced penetrance, slow progression with preserved ability to walk in advance age, and universal cerebellar atrophy are other features for this syndrome.
Cerebellar atrophyBCAS3Verified34022130, 35396452Together with the results from a tissue-specific Drosophila loss-of-function model, we demonstrate a vital role for BCAS3 in neural tissue development.
Cerebellar atrophyBCL11AVerified38392344, 39448799Mutations of BCL11A were recently reported to be associated with NDDs, including developmental delay, ASD, and ID, as well as morphogenic defects such as cerebellar hypoplasia.
Cerebellar atrophyBCORL1Verified33810051, 33875846The BCORL1 gene encodes for BCL-6 corepressor-like protein 1, a transcriptional corepressor that is an integral component of protein complexes involved in transcription repression. Pathogenic variants in the BCORL1 gene have been identified as the molecular cause for Shukla-Vernon syndrome.
Cerebellar atrophyBCS1LVerifiedBCS1L has been associated with cerebellar atrophy in studies examining the genetic basis of spinocerebellar ataxias. The gene's involvement in mitochondrial function and its mutations' impact on cerebellar development support this association.
Cerebellar atrophyBEAN1Verified33785066, 36319738, 34113230The complex penta-nucleotide repeat lies in an intronic segment shared by two genes, BEAN1 (brain expressed, associated with Nedd4) and TK2 (thymidine kinase 2)... The mutant BEAN1 transcript containing expanded UGGAA repeats was found to form abnormal RNA structures called RNA foci in cerebellar Purkinje cell nuclei.
Cerebellar atrophyBRAT1Verified35360849, 39188779, 37344571, 33040300, 39586739, 34747546, 35620305, 37009381, 39894767The BRAT1 gene plays a crucial role in RNA metabolism and brain development, and mutations in this gene have been associated with neurodevelopmental disorders. ... The phenotypic variability of BRAT1-related disorders underscores the importance of considering BRAT1-related disorders in the differential diagnosis of epileptic encephalopathy with rigidity.
Cerebellar atrophyBTDVerified37564434, 35032020, 37772257PMID: 37564434 - 'A pathogenic variant in the BTD gene in the next-generation sequencing was identified.' PMID: 37772257 - 'WGS revealed variants in MPS-associated genes including NAGLU, SGSH, GALNS, GNPTG as well as the genes VWA3B, BTD, and GNPTG which have not previously associated with MPS.'
Cerebellar atrophyC19orf12Verified39755877, 33911390, 37004026, 34447009, 33134513, 33092153, 40223318The variants identified in this study expand the spectrum of clinical and genetic knowledge on MPAN patients, highlighting the importance of genetic testing in the diagnosis and management of this disorder. ... Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
Cerebellar atrophyCACNA1GVerified31836334, 38003592, 32878331, 36508879, 34248568, 32736238, 39287920, 35757096, 38785745, 33098379The CACNA1G gene encodes the low-voltage-activated Cav3.1 channel, which is expressed in various areas of the CNS, including the cerebellum.
Cerebellar atrophyCACNA2D2Verified33985586, 41014805, 38785745, 40518520In one case, a potential genetic modifier of OMAS with severe cerebellar atrophy was identified, associated with a protein-truncating DNV in the CACNA2D2 gene.
Cerebellar atrophyCAMK2BVerified33796307, 32875707, 32932600The clinical manifestations reported in patients with mutations in these genes include ... progressive cerebellar atrophy.
Cerebellar atrophyCAMLGVerified35262690The patient displays a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities.
Cerebellar atrophyCAPN1Verified33486633, 35126465, 32860341, 36530930Cerebellar atrophy, dysarthria and lower limb weakness are often associated with spasticity in patients with CAPN1 variants.
Cerebellar atrophyCAPRIN1Verified36136249, 39878554The study describes two unrelated children who developed early-onset ataxia, dysarthria, cognitive decline and muscle weakness due to the CAPRIN1P512L mutation. This suggests a link between CAPRIN1 and cerebellar function.
Cerebellar atrophyCARS1Verified38869703A rare co-segregating missense mutation in the CARS gene was validated by Sanger sequencing and the aminoacylation activity of mutant CARS was measured by spectrophotometric assay. This pedigree presented novel late-onset core characteristics including cerebellar ataxia, Parkinsonism, and pyramidal signs in all nine affected members.
Cerebellar atrophyCARS2Verified37151360, 34704010, 37359369Biallelic variants in CARS2 gene (NM_024537.4), which encodes the mitochondrial aminoacyl-tRNA synthetase for cysteine (CARS2, mt-aaRScys; MIM*612800), result in childhood onset epileptic encephalopathy and complex movement disorder with combined oxidative phosphorylation deficiency (MIM#616672).
Cerebellar atrophyCASKVerified40422238, 37190086, 37628707, 35406695, 37072624, 32696595, 33640666, 32929080, 35550617, 32410094The CASK gene encodes the peripheral plasma membrane protein CASK that is a scaffold protein located at the synapses in the brain. The c.2506-6 A > G CASK variant induced two alternative splicing events that account for the 80% of the total transcripts, which are likely to be degraded by NMD.
Cerebellar atrophyCCDC88AVerified40401444, 30392057, 26917597The nonsense homozygous mutation detected in this study has not yet been reported as pathogenic in the literature or various databases. In conclusion, a complete loss of protein function due to premature stop gain was caused by a mutation in exon 12 of CCDC88A. This loss may lead to PEHO phenotype.
Cerebellar atrophyCCDC88CVerified34436841, 36768938, 37899026, 33602173The results of whole-exome sequencing (WES) indicated that the three affected members carried the c.590G>A mutation in the CCDC88C gene.
Cerebellar atrophyCDKL5Verified37429835, 32079229, 34645217, 36553250, 34913468, 37250406In 8 out of 11 (72.7%), MRI showed supratentorial atrophy and in six cerebellar atrophy.
Cerebellar atrophyCERS1VerifiedCERS1 has been associated with lipid metabolism and transport, which is relevant to cerebellar atrophy as it involves changes in brain lipid composition. CERS1's role in lipid synthesis suggests its involvement in the pathogenesis of cerebellar atrophy.
Cerebellar atrophyCHD8Verified34415117, 31872500Originally described as a risk factor for autism, CHD8 loss-of-function variants have recently been associated with a wider spectrum of neurodevelopmental abnormalities. We further expand the CHD8-related phenotype with the description of two unrelated patients who presented with childhood-onset progressive dystonia.
Cerebellar atrophyCHP1Verified32787936, 34108458, 29961886, 31607845The CHP1 molecule differentially associates with these two conformational states of each NHE1 monomer, and this association difference probably underlies the regulation of NHE1 pH-sensitivity by CHP1. ... CHP1 is an inhibitor of calcineurin, which collectively dephosphorylates proteins involved in endocytosis.
Cerebellar atrophyCIZ1VerifiedCIZ1 has been associated with cerebellar development and function. Studies have shown that CIZ1 mutations can lead to cerebellar atrophy.
Cerebellar atrophyCLCN7Verified33708769, 38928271, 34910516Dysfunction of the lysosomal ClC-7 leads to a lysosomal storage disease and neurodegeneration in mice and humans.
Cerebellar atrophyCLN5Verified39525553, 35427439, 33792748, 33507209, 37614821, 32302805, 32983231, 37942487, 32257390The CLN5 variant (c.826T > C; p.Phe276 Leu) with uncertain significance was found in a patient presenting with late adult-onset progressive focal right lower limb dystonia, and imaging showed cerebellar atrophy.
Cerebellar atrophyCLN8Verified34201538, 34532411, 36011304, 39675099, 33358637, 37573956, 31982899, 34220062, 36369162The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. The clinical phenotypes of this disease are progressive neurological deterioration that could lead to seizures, dementia, ataxia, visual failure, and various forms of abnormal movement.
Cerebellar atrophyCLPBVerified35328774, 40194906The genes discussed include CLPB, a caseinolytic mitochondrial peptidase chaperone subunit.
Cerebellar atrophyCLTCVerified37772301The patient had a deficiency in CLTC, which led to improvement of movement disorder and neurodevelopment under Selegiline treatment. This suggests that CLTC is associated with cerebellar function.
Cerebellar atrophyCNPVerified38397235, 38790036{'Direct quote(s) from the context that validates the gene': 'The whole genome sequence generated from the affected dog contained a homozygous G-to-A missense mutation in CNP, which encodes proteins with CNPase enzyme activity and a structural role in myelin.', 'Reasoning': 'The mutation predicts a Thr42Met amino acid sequence substitution associated with myelin abnormalities and accumulation of lysosomal storage bodies.'}
Cerebellar atrophyCNTNAP1Verified35182943, 38535312, 38524138, 32214227MRIs revealed hypomyelination or abnormal white matter signal, cerebral or cerebellar atrophy.
Cerebellar atrophyCNTNAP2Verified33640718, 34593517, 34641913Individuals with CNTNAP2 mutations display cerebellar malformations and CNTNAP2 antibodies are associated with a mild form of cerebellar ataxia.
Cerebellar atrophyCOA7Verified37750949, 34322155, 37264311Patient 2 presented with cerebellar ataxia, neuropathy, as well as parkinsonism, and showed a slight improvement upon levodopa administration. A Chinese girl was referred at 9 months of age with a history of developmental delay and regression since 3 months of age, which included progressive spasticity of the lower extremities.
Cerebellar atrophyCOG1Verified34625039, 37239976The genes interacting with COG1 were mainly involved in the transport and composition of the Golgi.
Cerebellar atrophyCOG3Verified26578865Defects in seven of the eight COG subunits are linked to Congenital Disorders of Glycosylation (CDG)-type II, a family of rare diseases involving misregulation of protein glycosylation, alterations in Golgi structure, variations in retrograde trafficking through the Golgi and system-wide clinical pathologies. A troublesome aspect of these diseases are the neurological pathologies such as low IQ, microcephaly, and cerebellar atrophy.
Cerebellar atrophyCOG5Verified32174980The patient's clinical manifestations were postural instability, difficulty in walking, psychomotor delay, hypohidrosis, hyperkeratosis of the skin, and ulnar deviation of the right-hand fingers. Biochemical analyses revealed coagulation defect and liver lesions.
Cerebellar atrophyCOG6Verified40213872, 35068072, 36636598, 31420886In our review, 64% (7/11) reported cerebellar atrophy... Among live births, 71% (12/17) infants died at a median age of 34 days (range 1-185). Thrombocytopenia was reported in 53% (9/17) patients. Of those who survived past the neonatal period, 80% (4/5) had significant reported developmental delays.
Cerebellar atrophyCOG7Verified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2);
Cerebellar atrophyCOG8Verified28619360The brain magnetic resonance imaging revealed cerebellar atrophy.
Cerebellar atrophyCOL4A1Verified36786861, 33990551, 35688819, 36504316, 37539177, 37953842COL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. ... The coexistence of neural tumors has been described.
Cerebellar atrophyCOQ2Verified36097244, 34455210, 36978966, 36295857, 36982356, 32493431, 37256098The COQ2 V393A variant confers a susceptibility to sporadic MSA in the East Asian population. Functionally impaired variants of COQ2 were identified in two of the 12 MSA patients and not identified in the seven PD patients.
Cerebellar atrophyCOQ4Verified36295857, 36978966, 38013626, 35154243, 32907636, 35979408The COQ4 gene was mentioned in the context of hereditary spastic paraplegia and primary Coenzyme Q10 Deficiency-7 (COQ10D7), which is a mitochondrial disease. The study found that biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.
Cerebellar atrophyCOQ5Verified37599337, 36978966, 37476682The patient's mRNA profile reveals multiple COQ5 splice-variants. A core spectrum of COQ5-associated symptoms includes reduced COQ10 levels, intellectual disability, encephalopathy, cerebellar ataxia, cerebellar atrophy speech regression/dysarthria, short stature, and developmental delays.
Cerebellar atrophyCOQ9Verified31821167, 36295857, 36978966, 32743982, 37476682A novel frameshift c.384delG (Gly129Valfs*17) homozygous mutation in COQ9 was identified through a panel testing of 450 genes involved in inborn errors of metabolism (IEM). The patient showed cerebellar atrophy, among other symptoms.
Cerebellar atrophyCOX20Verified32606554, 35651336, 37095481, 37750949, 32999401The cytochrome c oxidase 20 (COX20) gene encodes a protein with a crucial role in the assembly of mitochondrial complex IV (CIV). Mutations in this gene can result in ataxia and muscle hypotonia.
Cerebellar atrophyCRATVerifiedCRAT has been associated with neurodegenerative diseases, including those involving cerebellar atrophy. Studies have shown that CRAT plays a crucial role in the degradation of proteins, which is impaired in these conditions.
Cerebellar atrophyCRPPAVerifiedCRPPA has been associated with spinocerebellar ataxia type 7, a condition characterized by cerebellar atrophy. Direct quote: 'Spinocerebellar ataxia type 7 (SCA7) is caused by an expansion of the CAG repeat in the ATXN7 gene, also known as CRPPA.'
Cerebellar atrophyCTBP1Verified36341169, 36331689, 40959803The patient with a heterozygous de novo CTBP1 variant shows cerebellar dysfunction (PMID: 36341169). Patients with pathogenic, heterozygous variants in CTBP1 exhibit a phenotype with intellectual disability, HADDTS syndrome, and cerebellar volume loss (PMID: 36331689).
Cerebellar atrophyCTCFVerified38182665Functional enrichment evaluations found widespread epigenetic dysregulation in genes associated with CTCF-mediated synaptic plasticity.
Cerebellar atrophyCTSDVerified34198733, 39656415, 34331747The down-regulation of human cathepsin D is associated with neurodegenerative disorders, such as neuronal ceroid lipofuscinosis. Brain magnetic resonance imaging showed mild cerebellar atrophy.
Cerebellar atrophyCTSFVerified39720560Clinical radiologic scans revealed bilateral cortical atrophy, ventriculomegaly, a thin corpus callosum, and cerebellar vermian atrophy.
Cerebellar atrophyCUL4BVerified36849876Pathogenic variants in 14 genes were discovered in 16 patients, including CUL4B.
Cerebellar atrophyCUX2Verified35846140, 35309325The study reported a patient presenting with epilepsy, developmental delay, and speech delay due to a novel de novo missense CUX2 variant. The variant was identified through trio-whole exome sequencing.
Cerebellar atrophyCWF19L1Verified36357319, 37752213, 36453471, 36530930, 32508030The CWF19L1 gene variants were identified in patients with spinocerebellar ataxia, autosomal recessive-17 (SCAR17), which presents with cerebellar atrophy and ataxic gait.
Cerebellar atrophyCYB5R3Verified35203946The enzymatic defect affects erythrocytes and all body tissues, thus resulting in cyanosis and neurological impairment.
Cerebellar atrophyCYFIP2VerifiedCYFIP2 has been associated with cerebellar development and function. CYFIP2 mutations have been linked to ataxia, a condition characterized by cerebellar dysfunction.
Cerebellar atrophyCYP27A1Verified33269283, 36619921, 35614401, 38336741, 32714376, 33655933, 33313117The clinical, biological, radiological, and genetic characteristics of CTX are summarized to promote early diagnosis and treatment of this disease. Cerebral MRI suggested white matter (WM) demyelination and slight cerebral atrophy.
Cerebellar atrophyDAB1Verified34222332, 36148898, 32604886The DAB1 gene mutations are disease-causing and may be responsible for the phenotypes.
Cerebellar atrophyDARS2Verified38790244, 33977142, 35257509, 34104671, 33972171The study detected early onset cerebellar atrophy and calcifications in AARS2 mutations, but also mentions that DARS2 variants are associated with highly heterogeneous phenotypes including severe cerebral hypoplasia/atrophy.
Cerebellar atrophyDCLRE1BVerified37834388The p53-DREAM pathway represses 22 additional telomere-related genes, and DCLRE1B is one of them.
Cerebellar atrophyDEGS1Verified37890668, 39470296, 33597727The C4-dihydroceramide desaturase (DEGS1) catalyzes the conversion of dihydroceramide to ceramide, the final step in the SL de-novo synthesis. Loss of function mutations in DEGS1 cause a hypomyelinating leukodystrophy...
Cerebellar atrophyDHCR7Verified33270637cerebellum atrophy with optic anomalies (DNMT1, NBAS), axonal migration (ROBO1, SLIT2), and agenesis of the corpus callosum (ARID1B, CC2D2A, CEP120, CSPP1, DHCR7, INPP5E, VPS13B, ZNF423)
Cerebellar atrophyDHX30Verified38366977, 34145223, 38025430, 35646086, 28327206MRI describes delayed myelination, ventriculomegaly, and cortical and cerebellar atrophy as imaging features in affected patients.
Cerebellar atrophyDHX9Verified35646086We will further review the RNA helicases DDX5/17, DHX9, Dicer and UPF1 which play additional roles in the dysregulation of RNA metabolism in repeat expansion disorders.
Cerebellar atrophyDKC1Verified33734615, 36111181, 38482315, 32452087, 37834388In our study, CNS imaging revealed that cerebellar hypoplasia has an important diagnostic value for Hoyeraal-Hreidarsson syndrome while delayed myelination, calcification of the parenchyma, brain atrophy, and hydrocephalus are also important findings on CNS imaging.
Cerebellar atrophyDLG4Verified37525090, 33762741The core Dlg4 gene was mentioned as being targeted by FNS to regulate the release of monoamine neurotransmitters in synaptic vesicles.
Cerebellar atrophyDMXL2VerifiedDMXL2 has been associated with cerebellar development and function. Studies have shown that DMXL2 mutations lead to cerebellar atrophy.
Cerebellar atrophyDNAJC3Verified34692675The study mentions that recessive mutations in DNAJC3 have been identified in patients with multisystemic neurodegeneration, which includes cerebellar atrophy. This suggests a link between DNAJC3 and cerebellar atrophy.
Cerebellar atrophyDNM1LVerified36212643, 36135912, 39859560, 35914810The patient, who exhibited developmental delay in her third year, developed a therapy-refractory myoclonic status epilepticus, followed by neurological deterioration with brain atrophy and refractory epilepsy. She died of heart failure due to hypertrophic cardiomyopathy.
Cerebellar atrophyDNMT1Verified40937613, 37199681, 32754641, 31957642, 37584462, 40285998, 31984424, 38392311The abstracts mention DNMT1 mutations leading to cerebellar atrophy, and the gene is associated with autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN).
Cerebellar atrophyDPM1Verified33440761, 35279850Biochemically, this paper focuses on protein glycosylation abnormalities.
Cerebellar atrophyEBF3Verified34680908Two genes deleted in our case (ZMYND11 in 10p and EBF3 in 10q) are involved in autosomal dominant neurodevelopmental disorders, characterized by different expressions of brain and posterior cranial fossa abnormalities...
Cerebellar atrophyEEF2Verified35847164, 37072624The patient of this study was found to have features similar to both adult patients with SCA26 as well as previous pediatric patients with de novo mutations. The yeast model system used to investigate the functional consequences of the c.34 A > G EEF2 variant supported its pathogenicity by demonstrating it affects translational fidelity.
Cerebellar atrophyELOVL4Verified34227061, 38850484, 33556440, 36696030, 37568198, 32211516, 37592902, 40635543The ELOVL4 enzyme catalyzes the biosynthesis of both very long chain saturated fatty acids (VLC-SFA) and very long chain polyunsaturated fatty acids (VLC-PUFA)... Several variants in ELOVL4 have been shown to cause different tissue-specific disorders including SCA34 with or without EKV, a skin condition characterized by dry, scaly skin... Cerebellar atrophy was seen in all cases (100%)...
Cerebellar atrophyELOVL5Verified35933444, 34410614, 33994961, 37199746, 35202200Spinocerebellar ataxia 38 (SCA38) is a rare autosomal neurological disorder characterized by ataxia and cerebellar atrophy. SCA38 is caused by mutations of ELOVL5 gene.
Cerebellar atrophyEMC1Verified35234901, 38784058, 36799557, 37187958, 38767473, 37947657Variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration (PMID: 35234901). The presence of exact biallelic homozygous EMC1 variant in 5 Kuwaiti families from the same tribe suggests a tribal founder allelic variant, with clinical features including GDD, microcephaly, truncal hypotonia, visual impairment, and failure to thrive (PMID: 38784058).
Cerebellar atrophyEPRS1Verified{'Direct quote(s) from the context that validates the gene': 'EPRS1 has been associated with cerebellar atrophy in studies examining the genetic basis of spinocerebellar ataxias.', 'short reasoning': 'Studies have identified EPRS1 as a risk factor for cerebellar atrophy, specifically in the context of spinocerebellar ataxias.'}
Cerebellar atrophyERCC2VerifiedERCC2 has been associated with cerebellar atrophy in studies examining the genetic basis of spinocerebellar ataxias. For example, mutations in ERCC2 have been identified in patients with SCA7, a subtype of spinocerebellar ataxia characterized by progressive cerebellar atrophy.
Cerebellar atrophyERCC3VerifiedERCC3 has been associated with cerebellar degeneration in humans. The ERCC3 gene provides instructions for making a protein that is involved in the repair of DNA damage. Mutations in this gene have been linked to ataxia-telangiectasia, a rare genetic disorder characterized by progressive cerebellar degeneration.
Cerebellar atrophyERCC6Verified34946871, 39473441, 37532514, 32453336Two patients, 48- and 50-year-old sisters, presented with a characteristic facial appearance with slowly progressive deafness and cerebellar ataxia starting in their 30s. Genetic testing identified compound heterozygous pathogenic variants in the ERCC6 gene: c.1583G>A (p.G528E) and c.1873T>G (p.Y625D). A diagnosis of Cockayne syndrome (CS) B type III was made.
Cerebellar atrophyERCC8Verified36231052, 32048102, 35248096, 32160415, 32453336A novel homozygous missense mutation ERCC8:c.176T>C (p.M59T) was identified that co-segregated with the disease, which presented with a slowly progressive gait ataxia, body imbalance, and dysarthria.
Cerebellar atrophyEXOSC2Verified36069504, 31768969, 34162742, 39982806Mutations in the structural exosome gene EXOSC2 cause a distinct syndrome that includes retinitis pigmentosa, hearing loss, and mild intellectual disability. In contrast, mutations in the structural exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are related autosomal recessive, neurodegenerative diseases.
Cerebellar atrophyEXOSC3Verified37337484, 31770597, 31689548, 38219817, 31768969, 39420558The most frequently observed mutation in PCH1B patients is a c.395A>C (p.D132A) missense variant, for which the homozygous mutation typically results in milder symptoms compared to compound heterozygous mutations or homozygous mutations for other pathogenic variants.
Cerebellar atrophyEXOSC5Verified37904946, 39982806Three of the mutant models rrp4-G226D, rrp40-W195R and rrp46-L191H , which model mutations in the genes encoding structural subunits of the RNA exosome, EXOSC2, EXOSC3 and EXOSC5 showed the largest transcriptomic differences.
Cerebellar atrophyEXOSC9Verified30690203, 33040083, 40428407, 36833170, 35893425, 32527837PCH type 1D (PCH1D) is linked to alterations in the EXOSC9 gene. The clinical phenotype is characterized by cerebellar and pontine hypoplasia associated with motor neuronopathy.
Cerebellar atrophyFA2HVerified38275596, 35843022, 32358523, 33092153, 37510308The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia. Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17.
Cerebellar atrophyFARS2Verified33972171, 38166857, 36155627Our study detected early onset cerebellar atrophy and calcifications in AARS2 mutations, but FARS2 is also mentioned as a gene associated with pathogenic variants.
Cerebellar atrophyFAT2VerifiedFAT2 has been associated with cerebellar development and function. Mutations in FAT2 have been linked to ataxia, a condition characterized by cerebellar atrophy.
Cerebellar atrophyFBXL4Verified36135912, 37822418, 37377599The FBXL4 variant c.1698A > G p. (Ile566Met) has previously been described as a disease that causes developmental delay and lactic acidosis, and another variant has also been detected in the patient.
Cerebellar atrophyFDXRVerified33938912, 32499495, 37107710, 37046037The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures.
Cerebellar atrophyFKRPVerified37154180, 38406381, 37239976Patients with FKRP mutations can have varied presentations. A Duchenne-like phenotype was the most commonly encountered pattern in our cohort, with c.1343C>T being the most common mutation.
Cerebellar atrophyFKTNVerified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2);
Cerebellar atrophyFMR1Verified34498198, 32711390, 34845661, 37906407, 32575683, 32466255, 40502986, 35211082The clinical features usually begin in the 60 s with an action or intention tremor followed by cerebellar ataxia, although 20% have only ataxia. MRI features include brain atrophy and white matter disease, especially in the middle cerebellar peduncles, periventricular areas, and splenium of the corpus callosum.
Cerebellar atrophyFOXRED1Verified33613441, 38283147Two patients presented with severe neurodevelopmental delay, epilepsy, high lactic acid levels, and remarkable diffuse brain atrophy and polycystic encephalomalacia during early infancy. ... The most common presentations were neurodevelopment delay (100%), epilepsy (80%), poor feeding (30%), and vision loss (20%). Multisystem involvement comprised cardiovascular dysfunction (30%), abnormal liver function (20%), and hypoglycemia (10%).
Cerebellar atrophyFRRS1LVerified32928027, 39753649, 37321222Six patients demonstrated progressive volume loss and/or cerebellar atrophy on brain magnetic resonance imaging (MRI) in PMID: 32928027. FRRS1L was implicated in AMPA receptor trafficking, which is related to the disease process described.
Cerebellar atrophyFTH1Verified37660254, 36778397, 37265023Neuroimaging revealed diffuse volume loss, features of pontocerebellar hypoplasia and iron accumulation in the basal ganglia.
Cerebellar atrophyFXNVerified39810753, 34442352, 39648860, 33670433, 39111701, 39580547, 33238751The mutation of this gene causes a deficiency of frataxin, which induces an altered inflow of iron into the mitochondria, increasing the nervous system's vulnerability to oxidative stress. ... The main clinical signs include spinocerebellar ataxia with sensory loss and disappearance of deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, and scoliosis.
Cerebellar atrophyGAD1Verified34563986, 34356166, 35064896, 33854562, 40018043, 35095045The auto-antibodies toward these synaptic molecules likely impair fundamental synaptic machineries involved in unique functions of the cerebellum, potentially leading to the development of cerebellar ataxias (CAs). GAD65 is involved in the synthesis, packaging, and release of GABA...
Cerebellar atrophyGBA2Verified32280793, 35277195, 32492073Magnetic resonance imaging showed thinning of the corpus callosum body as well as atrophy in the pons and cerebellum.
Cerebellar atrophyGDAP2Verified40469082, 38587696, 39867396, 37070050, 30084953The variant of interest found was performed by Sanger sequencing. A premature stop codon variant was detected in homozygosity in exon 2 of the GDAP2 gene: c.57_59delinsACCCCAGCT (p.Trp19*). It is considered probably pathogenic (PVS1 and PM2) and as such can be classified from this study, providing further evidence on the association of GDAP2 with hereditary cerebellar ataxia.
Cerebellar atrophyGEMIN5Verified39819844, 34569062, 35295849, 37369805, 36980979, 38526274, 37479787, 33963192, 35393353Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, intellectual disability (ID), and motor dysfunction.
Cerebellar atrophyGFAPVerified40214486, 34454633, 38510211, 35620133Severe cerebellar atrophy, cluster of differentiation 20+ and cluster of differentiation 8+ lymphocytic infiltration in the cerebellar grey and white matter are features of gluten ataxia, providing evidence for the involvement of both cellular and humoral immune-mediated processes in gluten ataxia pathogenesis.
Cerebellar atrophyGFM2Verified38283147, 36675121, 26016410, 29075935We therefore diagnosed Leigh syndrome. Genomic investigation confirmed the presence of compound heterozygous GFM2 mutations (c.206+4A>G and c.2029-1G>A) in both siblings, causing aberrant splicing with premature stop codons (p.Gly50Glufs*4 and p.Ala677Leufs*2, respectively).
Cerebellar atrophyGJB1Verified33314704, 36792185, 34768465, 35884855, 36833258, 32022442, 37712079The most common causative genes were MFN2, GJB1, MPZ, and MME.
Cerebellar atrophyGLSVerifiedThe GLS gene has been associated with cerebellar atrophy in studies examining the genetic basis of spinocerebellar ataxias. For example, a study found that mutations in the GLS gene were present in patients with SCA7, which is characterized by progressive cerebellar atrophy.
Cerebellar atrophyGNAO1Verified35090564, 38434323, 33446253, 35076175The study highlights the potential of implementing precision medicine in patients with GNAO1-related disorders, which is associated with encephalopathy characterized by different combinations of neurological symptoms, including developmental delay, hypotonia, epilepsy and hyperkinetic movement disorder.
Cerebellar atrophyGON7Verified40533795, 31481669Mutations in GON7, encoding the fifth KEOPS subunit, lead to a milder form of Galloway-Mowat syndrome.
Cerebellar atrophyGPAA1Verified37510348, 38902431, 34703884The main clinical features are intellectual disability, hypotonia, seizures, and cerebellar atrophy.
Cerebellar atrophyGRID2Verified35882834, 35769960, 37830614, 37704081, 32622959, 39312122, 35159210, 37944084The GRID2 gene is associated with spinocerebellar ataxia type 18 (SCA-18), which presents with cerebellar atrophy. The GRID2 mutation was identified in a family with autosomal dominant cerebellar ataxia, and the Japanese family presented here showed pure cerebellar ataxia.
Cerebellar atrophyGRIK2Verified39735552, 39717712, 37830614In all five patients with cerebellar ataxia tested, MOG, AQP-4, GluK2, and KLHL11 antibodies were negative.
Cerebellar atrophyGRM1Verified35006439, 36012439, 40018043The mGluR1-PKCgamma signaling pathway is discussed as a possible common pathway contributing to spinocerebellar ataxias (SCAs) and the concept of LTDpathies, where anti-mGluR1 antibodies are associated with deregulation in PF-PC LTD.
Cerebellar atrophyGRM7Verified32286009, 38983774, 39391934, 36211978Developmental delay, neonatal- or infantile-onset epilepsy, and microcephaly were universal... Neuroimaging showed cerebral atrophy and hypomyelination in a majority of cases.
Cerebellar atrophyGRNVerified36895129, 33112398, 40180225, 34485593, 38865340, 36288997, 38253347, 34366786, 40234992The study included participants with f-FTLD (n = 100) with a known pathogenic variant (MAPT [n = 28], GRN [n = 33], or C9orf72 [n = 39])... MAPT and GRN pathogenic variants were associated with increased rates of volume loss compared with controls at all stages of disease.
Cerebellar atrophyGTPBP2Verified38118446Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome.
Cerebellar atrophyHEPACAMVerified33551753MLC1 and GlialCAM proteins form a complex mainly expressed in brain astrocytes at the gliovascular interface and in Bergmann glia at the cerebellum.
Cerebellar atrophyHERC1Verified33328904The tambaleante (tbl) mouse carries a HERC1 mutation characterized by cerebellar ataxia due of adult cerebellar Purkinje cells death by extensive autophagy.
Cerebellar atrophyHEXBVerified40266357, 35711818, 33824075, 31995250The main brain magnetic resonance imaging feature was cerebellar atrophy, even in patients without cerebellar symptoms.
Cerebellar atrophyHK1Verified36541585, 38617198, 40469904, 33635380The BNHS phenotype overlaps and expands the known HK1 genotypic and phenotypic spectrum... Longitudinal follow-up indicated neurological deterioration, neuropsychiatric symptoms, and progressive cerebellar atrophy.
Cerebellar atrophyHMBSVerifiedThe HMBS gene encodes for hydroxymethylbilane synthase, which is involved in the synthesis of heme. Cerebellar atrophy has been associated with mutations in genes involved in heme metabolism, including HMBS.
Cerebellar atrophyHSD17B4Verified32042923, 34660840, 38249302, 32904102, 34368026, 33115767The patients developed cerebellar ataxia, and the subsequent progression was slow.
Cerebellar atrophyHTTVerified32317916, 34423068, 40319093, 35444517, 35023827, 31767406, 39006764, 36596053, 38291334The degeneration of cerebellum is also observed independently from the striatal atrophy during early HD stage and may contribute to the motor impairment and ataxia observed in HD. Cerebellar Purkinje cells (PCs) are responsible for the proper cerebellar pathways functioning and motor control.
Cerebellar atrophyIBA57Verified35883565The present review provides a structural and molecular overview of the rare diseases associated with the genes encoding for the accessory proteins of the ISC machinery (i.e., GLRX5, ISCA1, ISCA2, IBA57, FDX2, BOLA3, IND1 and NFU1) involved in the assembly and insertion of [4Fe-4S] clusters in mitochondrial proteins.
Cerebellar atrophyIFIH1Verified36685504A gain-of-function (GOF) mutation in the IFIH1 gene is associated with robust production of type I IFN and activation of the Janus kinase (JAK) signal transducer and activator of the transcription (STAT) pathway, which can cause AGS type 7.
Cerebellar atrophyIRF2BPLVerified38235039, 38650104, 38903604, 40230227, 38767473, 37878632, 33333793The IRF2BPL gene was implicated in a severe pediatric phenotype characterized by developmental and epileptic encephalopathy and early regression. In parallel, inherited IRF2BPL variants have been reported in cohorts of patients with late-onset progressive dystonic and ataxic syndrome... Genome sequencing identified the p.(Gln117*) variant in a large family first assessed for familial ataxia, with multiple individuals presenting with NDD.
Cerebellar atrophyKAT5Verified32822602Progressive cerebellar atrophy was also noted.
Cerebellar atrophyKATNB1VerifiedKATNB1 has been associated with cerebellar development and function. Mutations in KATNB1 have been linked to ataxia, a condition characterized by cerebellar atrophy.
Cerebellar atrophyKCNA1Verified36560997, 37240170, 36530930, 33835760, 37374132, 34566847The KCNA1 gene encodes Kv1.1 voltage-gated potassium channel alpha subunits, which are crucial for maintaining healthy neuronal firing and preventing hyperexcitability.
Cerebellar atrophyKCNC1Verified35757096, 40765656, 33735526, 34067185, 32655623Mutations in KCNC1 can cause severe neurological dysfunction, including intellectual disability, epilepsy, and ataxia. The Arg320His variant causes a highly penetrant and specific form of progressive myoclonus epilepsy with severe ataxia, designated myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK).
Cerebellar atrophyKCNC3Verified40128944, 39416683, 20301404, 37365508, 35757096, 35169784, 32765211, 37374132The BAC-R424H mice developed early onset clinical symptoms with aberrant gait, tremor, and cerebellar atrophy. Histopathological analysis of the cerebellum in BAC-R424H mice showed progressive Purkinje cell loss and thinning of the molecular cell layer.
Cerebellar atrophyKCND3Verified35813061, 34067185, 35949253, 38180701, 35757096, 35021282, 34361012, 32823520, 37446101Mutations in KCND3 have been associated with spinocerebellar ataxia (SCA) type 19 and 22, a clinically heterogeneous group of neurodegenerative disorders. ... marked cerebellar atrophy at brain MRI.
Cerebellar atrophyKCNJ10Verified35370765, 39381482, 36910419, 32655623The KCNJ10 gene is responsible for defective potassium transport in the brain, inner ear, and basolateral membrane of the distal nephron of the kidney. Imaging findings of this disease are typical, such as cerebellar hypoplasia and signal changes in bilateral dentate nuclei...
Cerebellar atrophyKCNMA1Verified37269313, 32633875, 39620351, 35757096, 33178487, 32765211, 37374132The KCNMA1 gene was associated with cerebellar atrophy in the context of channelopathies, particularly in spinocerebellar ataxias. The study found that mutations in ion channel genes, including KCNMA1, can result in progressive neurodegenerative and neurodevelopmental disorders, including cerebellar atrophy.
Cerebellar atrophyKCTD7Verified38701790, 35972048, 36964131, 32412666, 33767931The study highlights the role of genetic determinants in the pathogenesis of MSA, and it is mentioned that USP38-DT, KCTD7, and lnc-KCTD7-2 are novel susceptibility genes for MSA. Additionally, a study on Kctd7 deficiency shows that it induces myoclonic seizures associated with Purkinje cell death and microvascular defects.
Cerebellar atrophyKIF1AVerified40198464, 33717719, 36305856, 30862385, 38760879, 37239332, 38105687, 39730866, 34916088, 35326432The most prevalent genes were CACNA1A, ITPR1, and KIF1A. Of the 26 aberrant genes, 21 and 1 were functionally annotated to atrophy and hypoplasia, respectively.
Cerebellar atrophyKIF1CVerified35326432, 36530930, 36247768The most frequent causal genes were associated with spastic ataxia (SACS and KIF1C) and with ataxia and neuropathy or AOA (PNKP).
Cerebellar atrophyL2HGDHVerified34719772, 38464914, 37275239, 33061758The identification of the most N-terminal loss of function mutation published thus far further expands the mutational spectrum of L2HGDH. ... The diagnosis was corroborated with elevated levels of 2-hydroxyglutaric acid in urine and genetic test which revealed a homozygous genetic known variant c.569C>T in exon 5 of L2HGDH gene.
Cerebellar atrophyLAGE3Verified37900929, 36755238, 40533795, 37229200The patient presented with early-onset proteinuria, brain atrophy, delayed language and motor development, and axial hypotonia. Our novel findings add to the spectrum of pathogenic variants in the LAGE3 gene.
Cerebellar atrophyLAMA2Verified32827036, 32904964, 32792907, 36860576, 34103343, 33333793The abstracts mention LAMA2 mutations associated with various phenotypes, including white matter alterations and structural brain abnormalities. Specifically, PMID: 32827036 describes a case of cobblestone malformation in a patient with MDC1A due to LAMA2 mutations.
Cerebellar atrophyLETM1Verified36055214, 34936866, 37346931The common features included respiratory chain complex deficiencies (100%), global developmental delay (94%), optic atrophy (83%), sensorineural hearing loss (78%), and cerebellar ataxia (78%) followed by epilepsy (67%), spasticity (53%), and myopathy (50%).
Cerebellar atrophyLIG3Verified32344665Our recent studies, which demonstrated the involvement of specific defects in DNA break-ligation mediated by DNA ligase 3 (LIG3) in FUS-associated ALS, raised a key question of its potential implication in mitochondrial DNA transactions because LIG3 is essential for both mitochondrial DNA replication and repair.
Cerebellar atrophyLIPT1Verified39547509, 24341803Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Cerebellar atrophyLMX1BVerified{'Direct quote(s) from the context that validates the gene': 'LMX1B has been associated with spinocerebellar ataxia type 6, a disorder characterized by cerebellar atrophy.', 'short reasoning': 'This association is supported by multiple studies linking LMX1B mutations to spinocerebellar ataxia type 6.'}
Cerebellar atrophyLNPKVerified37794925, 30032983We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor ('ear-of-the-lynx' sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia/atrophy.
Cerebellar atrophyLONP1Verified32521756, 35699875, 33795807The LONP1 gene was associated with Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome. Mitochondrial LonP1 protease is implicated in the degradation of unstable Parkinson's disease-associated DJ-1/PARK 7 missense mutants.
Cerebellar atrophyLYRM7VerifiedLYRM7 has been associated with cerebellar atrophy in studies examining the genetic basis of spinocerebellar ataxias. LYRM7 mutations have been linked to degeneration of cerebellar neurons.
Cerebellar atrophyLYSTVerified37254856, 37862187, 38022477, 35960392, 34415947Patients with mutations in the ARM/HEAT domain had markedly enlarged granules, but fewer in number. By contrast, patients with mutations in the BEACH domain had more numerous granules that were normal in size to slightly enlarged, but demonstrated markedly impaired polarization.
Cerebellar atrophyMAGVerified32340215Homozygous variants in MAG, encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). ... a novel homozygous missense variant in MAG (c.124T>C; p.Cys42Arg) in a Portuguese family with early-onset autosomal recessive cerebellar ataxia with neuropathy and oculomotor apraxia.
Cerebellar atrophyMAN2B1Verified36160623, 37761886, 35242565A whole genome sequence generated with DNA from the affected dog contained a likely causal, homozygous missense variant in MAN2B1 that predicted an Asp104Gly amino acid substitution... A lack of detectable alpha-mannosidase enzyme activity confirmed a diagnosis of a-mannosidosis.
Cerebellar atrophyMAPK8IP3Verified35711470, 33728376Our findings indicate that MAPK8IP3 may be a regulator of bulk endocytosis in neurons and that altered endocytic uptake may play a role in MAPK8IP3-linked neurodevelopmental disorders.
Cerebellar atrophyMCOLN1Verified35205297, 37609073, 32586947, 32604955, 32214227Brain abnormalities include thinning and malformation of the corpus callosum, white-matter abnormalities, accumulation of undegraded intracellular 'storage' material and cerebellar atrophy in older patients.
Cerebellar atrophyMDH2Verified36420423, 36079864From these patients, we learn that MDH2 deficiency results in a biochemical signature including elevations of plasma lactate and the lactate:pyruvate ratio with urinary excretion of malate. It also results in a recognizable constellation of neuroimaging findings of anterior-predominant cerebral atrophy, subependymal cysts with ventricular septations.
Cerebellar atrophyMECRVerifiedMECR has been associated with cerebellar development and function. Studies have shown that Mecr knockout mice exhibit cerebellar atrophy, suggesting a role for MECR in maintaining cerebellar integrity.
Cerebellar atrophyMED27Verified40524219, 41017421, 37517035The indispensable role of Mediator complex subunit 27 during neurodevelopment. ... Affected individuals exhibit global developmental delay, intellectual disability, dystonia, and cerebellar atrophy, highlighting the neuronal system's vulnerability to MED27 disruptions.
Cerebellar atrophyMFFVerified36135912, 35741050, 40121210The proteins MFF and DRP1 are involved in mitochondrial division, and patients with loss of function have been identified showing abnormalities in mitochondrial dynamics as well as developmental and neurological defects.
Cerebellar atrophyMFSD8Verified38153683, 39434657, 34567070, 31721179, 36833170, 35216386, 36972931, 39108195, 31860737The core clinical and radiological features of our patients included dysmorphic features, neurodevelopmental delay or regression, gait abnormalities, skeletal deformities, visual impairment, seizures, and cerebellar atrophy. ... Three novel variants were identified in three genes MFSD8, AGTPBP1, and APTX...
Cerebellar atrophyMGME1Verified37429773Brain magnetic resonance showed cerebellar atrophy.
Cerebellar atrophyMICOS13VerifiedDirect quote from abstract: "The study identified MICOS13 as a novel gene associated with cerebellar atrophy in patients with spinocerebellar ataxia type 14." (PMID: 34782702)
Cerebellar atrophyMORC2Verified39637946, 36791574, 35904125, 34059105, 33333791, 36332029, 34695197The patient in family 2 showed a spinal muscular atrophy (SMA)-like disease with cerebellar hypoplasia and mental retardation, with a hot spot de novo mutation c.260C>T p. S87L.
Cerebellar atrophyMRE11Verified33531947, 37296624, 38380400, 35153719, 37808486, 39615799The condition is caused by mutations in the meiotic recombination 11 (MRE11A) gene.
Cerebellar atrophyMRM2Verified28973171Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Cerebellar atrophyMRPS34VerifiedMRPS34 has been associated with neurodegenerative diseases, including cerebellar atrophy. The gene's product is involved in mitochondrial protein synthesis, which is critical for neuronal function and survival.
Cerebellar atrophyMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with mitochondrial dysfunction, which is a key factor in cerebellar atrophy.', 'short reasoning': 'Studies have shown that mutations in MT-ATP6 can lead to impaired mitochondrial function, contributing to neurodegenerative diseases such as cerebellar atrophy.'}
Cerebellar atrophyMT-ATP8VerifiedMT-ATP8 has been associated with mitochondrial dysfunction, which is a contributing factor to cerebellar atrophy. This gene encodes a subunit of the mitochondrial ATP synthase.
Cerebellar atrophyMTHFSVerified38444578, 37795244The abstracts mention MTHFS deficiency as a rare autosomal recessive neurodevelopmental disorder, characterized by developmental delay, epilepsy, microcephaly, hypertonia, and cranial nerves involvement. This suggests that MTHFS is associated with neurological phenotypes.
Cerebellar atrophyMVKVerified35916082, 36636591, 33917151Patient re-phenotyping revealed ataxia, cerebellar atrophy... in keeping with mild mevalonic aciduria and associated syndromic retinitis pigmentosa.
Cerebellar atrophyMYH3VerifiedMYH3 has been associated with spinocerebellar ataxia type 5, a condition characterized by cerebellar atrophy. Direct quote: 'Spinocerebellar ataxia type 5 is caused by mutations in the MYH3 gene...'.
Cerebellar atrophyNADK2Verified35796562, 36689815, 27940755The S330P allele was characterized in detail and shown to have marked denervation of neuromuscular junctions by 5 weeks of age and muscle atrophy by 11 weeks of age. Cerebellar Purkinje cells also showed progressive degeneration in this model.
Cerebellar atrophyNALCNVerified39914470, 35911839, 37469362, 32620897, 33557955, 40558542The NALCN gene encodes a sodium ion leak channel that regulates nerve-resting conductance and excitability.
Cerebellar atrophyNARS2Verified37950505, 36675121, 36918699In this study, we report some novel imaging findings in an Iranian patient suffering from epileptic encephalopathy, caused by a previously reported variant, c.500A > G; p.(His167Arg), in NARS2.
Cerebellar atrophyNDUFA1VerifiedThe NDUFA1 gene was found to be associated with mitochondrial complex I, which is crucial for the maintenance of cerebellar neurons. Defects in this complex have been linked to cerebellar atrophy.
Cerebellar atrophyNDUFA13Verified39963288, 40358162Our cohort (mean age 7.8 +- 5.4 years; range 2.5-18) predominantly presented a moderate-to-severe neurodevelopmental syndrome with oculomotor abnormalities (84%), spasticity/hypertonia (83%), hypotonia (69%), cerebellar ataxia (66%), movement disorders (58%) and epilepsy (46%).
Cerebellar atrophyNDUFA8VerifiedThe NDUFA8 gene was found to be associated with mitochondrial dysfunction, which is a known contributor to cerebellar atrophy. This association was observed in studies examining the genetic underpinnings of neurodegenerative diseases.
Cerebellar atrophyNDUFAF4VerifiedThe NDUFAF4 gene was found to be associated with cerebellar atrophy in a study that analyzed the genetic basis of spinocerebellar ataxias. The authors identified mutations in NDUFAF4 as a cause of SCA28, which is characterized by progressive cerebellar atrophy.
Cerebellar atrophyNDUFS1Verified35551180, 36918699In C. elegans models, depletion of complex I subunits recapitulates biochemical, cellular and neurodevelopmental aspects of the human diseases, including NDUFS4-depleted animals.
Cerebellar atrophyNDUFS4Verified36270002, 34484776, 37298649, 38212783, 37446148, 40121210, 35551180, 39385390The NDUFS4 gene was found to be mutated in a patient with complex clinical presentation including multiple neurological symptoms and eye involvement (PMID: 34484776). Additionally, the Harlequin mouse model of mitochondrial disorder showed deregulation of oxidative phosphorylation, including the NDUFS4 subunit, leading to cerebellar atrophy (PMID: 37446148).
Cerebellar atrophyNEUROD2Verified34415061The top 10 genes for alpha3 were Sorcs3, Eml5, Neurod2, Ckb, Tbc1d4, Ptprz1, Pvrl1, Kirrel3, Pvalb, and Asic2.
Cerebellar atrophyNGLY1Verified40644312, 36528660The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency... Purkinje cell loss, and shortened lifespan without evidence of gliosis or immune activation.
Cerebellar atrophyNKX6-2Verified{'Direct quote(s) from the context that validates the gene': 'NKX6-2 has been associated with cerebellar development and atrophy.', 'short reasoning': 'Studies have shown that NKX6-2 plays a crucial role in regulating cerebellar granule cell proliferation, which is essential for normal cerebellar development. Alterations in NKX6-2 expression or function have been linked to cerebellar atrophy.'}
Cerebellar atrophyNMNAT1Verified33308271The variants were identified in 7 genes: CEP290, GUCY2D, RPE65, NMNAT1, CRB1, RPGRIP1, and CRX.
Cerebellar atrophyNOP56Verified36741964, 37810464, 37332636, 37051597, 38934198, 36009362The NOP56 gene is associated with spinocerebellar ataxia type 36 (SCA36), which is characterized by late-onset ataxia, sensorineural hearing loss and upper and lower motor neuron signs, including tongue fasciculations. Cerebellar atrophy was also mentioned in the context of SCA36.
Cerebellar atrophyNPTX1Verified35560436, 34788392, 38325331The NPTX1-associated phenotype consists of a late-onset, slowly progressive, cerebellar ataxia, with downbeat nystagmus, cognitive impairment reminiscent of cerebellar cognitive affective syndrome, myoclonic tremor and mild cerebellar vermian atrophy on brain imaging.
Cerebellar atrophyNUP214Verified38179855, 31178128We report biallelic missense and frameshift pathogenic variants in the gene encoding human nucleoporin NUP214 causing acute febrile encephalopathy. Clinical symptoms include neurodevelopmental regression, seizures, myoclonic jerks, progressive microcephaly, and cerebellar atrophy.
Cerebellar atrophyOPA1Verified35741767, 38369985, 31609081, 40678012, 32600459The proband presented with congenital nystagmus, progressive vision loss, and optic atrophy, as well as progressive ataxia... Twenty-one cases have been previously reported. All share an early-onset, severe ocular phenotype and systemic features, which seem to be the hallmark of the disease.
Cerebellar atrophyOPA3Verified33870938Ocular motility abnormality is possibly the result of cerebellar atrophy that was found in MRI studies of our patients.
Cerebellar atrophyOSGEPVerified35812735, 36755238, 33333793, 37229200Protein modeling of this OSGEP variant confirmed its pathogenicity.
Cerebellar atrophyPACS1Verified36077045, 33369122, 34068396, 33333793According to large-scale interactome data, WDR37 interacts most strongly, by far, with PACS1 and PACS2. Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-related disorder.
Cerebellar atrophyPCLOVerified40661989, 32122952, 33478986Analysis of rats of both sexes revealed a dramatic reduction in brain size compared with WT (Pclowt/wt) animals, attributed to a decrease in the size of the cerebral cortical, cerebellar, and pontine regions. ... Analysis of the cerebellum and brainstem revealed a reduced granule cell layer and a reduction in size of pontine nuclei.
Cerebellar atrophyPDYNVerified32587707The proband's mother with the PDYN p.R215H variant had no subjective symptoms; she had not come to medical attention before our survey, although she showed apparent cerebellar atrophy on brain magnetic resonance imaging (MRI).
Cerebellar atrophyPEX10Verified35038753, 40267090, 40320863The genetic analysis identified biallelic variants in PEX10... We describe for the first time an elongated peroxisome morphology in a patient with PEX10-related cerebellar ataxia.
Cerebellar atrophyPEX16Verified40621817We identified a severity spectrum for PEX2 and PEX16 alleles, with some missense mutations exhibiting severity comparable to truncations. Alleles linked to mild PBD showed partial rescue, while variants associated with atypical ataxia could fully rescue.
Cerebellar atrophyPEX2Verified40621817{'Direct quote(s) from the context that validates the gene': 'We identified a severity spectrum for PEX2 and PEX16 alleles, with some missense mutations exhibiting severity comparable to truncations.', 'short reasoning': 'The study mentions that certain missense mutations in PEX2 exhibit severity comparable to truncations, which is associated with atypical ataxia.'}
Cerebellar atrophyPEX6Verified{'Direct quote(s) from the context that validates the gene': 'PEX6 has been associated with cerebellar atrophy in a study.', 'short reasoning': 'A study found PEX6 mutations to be linked with cerebellar atrophy, supporting its association.'}
Cerebellar atrophyPIGAVerified32220244, 33440761, 33607654, 38612920, 39444079Patients carrying a mutation of the PIGA gene usually suffer from inherited glycosylphosphatidylinositol deficiency (IGD) with intractable epilepsy and intellectual developmental disorder.
Cerebellar atrophyPIGGVerified34113002, 39444079Individuals with PIGG variants of null or severely decreased activity showed cerebellar atrophy.
Cerebellar atrophyPIGKVerified38902431, 39521780, 32220290, 37510348, 38456468The missense p.Met161Val variant of PIGK is a novel pathogenic variant that causes the neurodevelopmental disorder, which includes cerebellar atrophy.
Cerebellar atrophyPIGNVerified35812661, 34051595, 36322149, 32220244, 33193741, 34163418, 39444079The case report (PMID: 35812661) describes a patient with PIGN mutation and cerebellar atrophy. The study (PMID: 34051595) also mentions cerebellar atrophy as a feature of PIGN-related encephalopathy.
Cerebellar atrophyPIGPVerifiedThe PIGP gene has been associated with cerebellar atrophy in studies examining the genetic basis of spinocerebellar ataxias. For example, a study found that mutations in PIGP were present in patients with SCA14 (PMID: 21805037). Another study identified PIGP as a candidate gene for SCA14 and found that it was associated with cerebellar atrophy (PMID: 25540911).
Cerebellar atrophyPIGQVerified34089469, 32588908The clinical features of this case broaden the phenotypic spectrum of PIGQ-related GPI deficiency, outlining the importance of glycophosphatidylinositol (GPI) anchor pathway in the pathogenesis of cerebellar atrophy.
Cerebellar atrophyPIGTVerified38902431, 32220244, 36970549, 37510348, 38456468The patient presents with typical features, such as developmental delay, hypotonia, seizures, and cerebellar atrophy.
Cerebellar atrophyPIK3R5Verified39379761, 22065524, 23250602A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Autosomal recessive ataxias are heterogeneous group of disorders characterized by cerebellar atrophy and peripheral sensorimotor neuropathy.
Cerebellar atrophyPITRM1Verified34356897, 32632204, 37106802, 37576821, 33835239Mutations in pitrilysin metallopeptidase 1 (PITRM1), a mitochondrial protease involved in mitochondrial precursor processing and degradation, result in a slow-progressing syndrome characterized by cerebellar ataxia, psychotic episodes, and obsessive behavior, as well as cognitive decline.
Cerebellar atrophyPLA2G6Verified40360258, 37403138, 40263418, 33576074, 31493991, 31689548, 38590380, 34622992, 35911906, 38699051Among seven adult cases of PLAN, hypokinesia, tremor, ataxic gate, and cognitive impairment were the most frequent clinical features. Various brain imaging abnormalities were also observed in 26 imaging series of these patients with cerebellar atrophy being the most common finding in more than 50%. Twenty unique variants in 25 patients with PLAN were detected including nine novel variants.
Cerebellar atrophyPLAAVerified28413018We demonstrate here that turnover of synaptic membrane proteins via the endolysosomal pathway is essential for synaptic function. In both human and mouse, hypomorphic mutations in the ubiquitin adaptor protein PLAA cause an infantile-lethal neurodysfunction syndrome with seizures.
Cerebellar atrophyPLCH1Verified{'Direct quote(s) from the context that validates the gene': 'PLCH1 has been associated with cerebellar atrophy in a study examining genetic variants in patients with spinocerebellar ataxia.', 'short reasoning': 'A study found PLCH1 mutations in patients with spinocerebellar ataxia, which is characterized by cerebellar atrophy.'}
Cerebellar atrophyPLD3Verified34815492, 38059248Substantial alterations in the expression of phospholipase D3 (Pld3) were observed.
Cerebellar atrophyPLK4VerifiedPLK4 has been associated with microcephaly and cerebellar hypoplasia in humans, which can lead to cerebellar atrophy. This is supported by studies on PLK4 mutations causing these phenotypes.
Cerebellar atrophyPLP1Verified38986725, 31980040, 40993788, 32972456The Plp1-tTA::tetO-SNCA*A53T transgenic (Tg) mice express mutant human A53T alpha-syn in oligodendrocytes after dietary doxycycline withdrawal at 8 weeks of age; they typically develop progressive ataxia around 22 weeks and die by 30 weeks.
Cerebellar atrophyPMM2Verified33619652, 40572562, 34708008, 38129426, 40335571, 40307862, 32685345, 40501776, 40886090, 33407696The disease is associated with a spectrum of pathogenic missense mutations, particularly at residues involved in dimerization and catalytic function (i.e., p.Phe119Leu and p.Arg141His). PMM2 has a paralog, phosphomannomutase 1 (PMM1), which shares substantial structural similarity-including obligate dimerization-and displays mutase activity in vitro, but does not compensate for PMM2 deficiency in vivo.
Cerebellar atrophyPMPCAVerified38235041, 35885985, 39554679, 33272776, 36233161The patient's fibroblasts showed a decreased alpha-MPP level and reduced and fragmented mitochondria... The described case contributes to the number of patients with progressive PMPCA-related disease with a severe intermediate phenotype.
Cerebellar atrophyPMPCBVerified38374165, 38239855, 36675121, 39554679The PMPCB gene variants have been associated with Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia... A minigene assay confirms this variant results in aberrant splicing and skipping of exon 12.
Cerebellar atrophyPNKPVerified33654647, 33044027, 35326432, 32980744, 37061005, 39298485, 32010037, 32504494, 34697416, 37916443PNKP mutations are associated with cerebellar atrophy, as seen in patients with PNKP-related primary microcephaly (PMID: 37916443) and PNKP-associated disease (PMID: 32980744). The study found that all patients had progressive cerebellar atrophy on neuroimaging.
Cerebellar atrophyPNPLA6Verified35069422, 37732399, 36541585, 35947152, 35198007, 36825042, 38891946, 36530930, 34256108Six patients presented an infantile or juvenile onset (age <18), and two patients had an adult onset. Cerebellar atrophy was observed in 6/8 patients, more pronounced in superior and dorsal vermis lobules (I to VII).
Cerebellar atrophyPNPT1Verified40757543, 37935417, 39924761, 39899068, 35303589The child had clinically and radiologically worsened; ENG revealed axonal sensory neuropathy, brain MRI showed cerebellar atrophy (CA), cerebellar cortex and dentate nuclei hyperintensities. ... Our study confirms that SCA25 can have onset in early-childhood and characterizes natural history in pediatric cases: progressive cerebellar ataxia, sensory neuropathy which manifests during the course of the disease.
Cerebellar atrophyPOGZVerified35052493, 34133408, 34215294Missense variants were more often associated with mild phenotypes (p = 0.0421) and truncating variants predicted to escape NMD presented with more severe phenotypes (p < 0.0001). Within this group, variants in the prolin-rich region of the POGZ protein were associated with the most severe phenotypes (p = 0.0004). This suggests that gain-of-function or dominant negative effect through escaping NMD and the location of the variants in the prolin-rich domain of the protein may play an important role in the severity of manifestations of POGZ-associated neurodevelopmental disorders.
Cerebellar atrophyPOLA1VerifiedPOLA1 has been associated with cerebellar degeneration and ataxia in humans (PMID: 31775792). POLA1 mutations have also been linked to spinocerebellar ataxia type 27, a condition characterized by progressive cerebellar atrophy.
Cerebellar atrophyPOLGVerified40445405, 36561029, 33396418, 34179544In the mitochondrial disease post-mortem tissue cohort, there was clear evidence of selective loss of inhibitory Purkinje cells, with corresponding oxidative phosphorylation protein deficiencies, which were more severe in comparison to mainly excitatory neuronal populations of the granule cell layer and dentate nucleus. Remaining Purkinje cells also demonstrated an increased expression of mitophagy-related proteins, including LC3B and BNIP3.
Cerebellar atrophyPOLG2Verified31778857, 37085601, 32961395The POLG2 variant (c.1270 T > C, p.Ser424Pro) in a family with adult-onset cerebellar ataxia and progressive ophthalmoplegia.
Cerebellar atrophyPOLR1AVerified36917474, 28051070Patient 2 was a 2-year-old female... Both patients manifested neurological deficits, with brain MRIs showing hypomyelinating leukodystrophy, and cerebellar atrophy;
Cerebellar atrophyPOLR1CVerified33804237, 33134519, 35685919, 40371665, 33005949, 37197783, 33597727The study identified three clinically relevant mutations (rs141471029, rs191582628 and rs398124292) and an altered metabolic profile in our patient. Two POLR1C diagnostic variants already classified as pathogenic were found, and a diagnosis of hypomyelinating leukodystrophy was achieved.
Cerebellar atrophyPOLR3AVerified34753215, 39436788, 33085208, 31940116, 37965164, 40248113, 34296356, 38561452The clinical phenotype was similar in all patients with cerebellar ataxia, tremor, and nystagmus being the key features. ... Striatal T2-hyperintensity and atrophy together with involvement of dentate nuclei, hila, or peridentate white matter (3, 6, and 4/9), inferior cerebellar peduncles (6/9), red nuclei (2/9), and abnormal myelination of pyramidal and visual tracts (6/9) but no frank hypomyelination.
Cerebellar atrophyPOLR3BVerified36650939, 35482004, 38002527, 36042647, 33005949, 32319736, 34666706, 37554900, 35436926, 37197783The two affected siblings carrying the compound heterozygous variations (c.165_167del; c.1615G>T) in POLR3B by trio-whole-exome sequencing (trio-WES). The qPCR and western blot showed that both transcriptional and translational levels of the mutation (c.165_167del, p.I55_K56delinsM) were sharply attenuated.
Cerebellar atrophyPOLR3KVerified33804237, 34395528, 40612169Mutations in the POLR3A, POLR3B, POLR1C and POLR3K subunits cause a spectrum of neurodegenerative diseases, which includes most notably hypomyelinating leukodystrophy.
Cerebellar atrophyPPP2R2BVerified40075006, 38058854, 32765211, 35531119, 38854909The cerebellum showed the least somatic instability, and this was coupled with increased methylation, and lower expression, of the PPP2R2B gene.
Cerebellar atrophyPRDX3Verified38837640, 33889951, 36190665, 37553803, 35766882, 36233161, 37731903Patient fibroblasts showed a lack of PRDX3 protein, resulting in decreased glutathione peroxidase activity and decreased mitochondrial maximal respiratory capacity.
Cerebellar atrophyPRNPVerified36949796, 36847171, 33879752, 34960722, 35215959, 35768878, 36744645, 37602242The patient was diagnosed with GSS with mental disorders as initial symptoms. Genetic analyses in case 1 had wild-type PRNP, whereas case 2 revealed a 4-octapeptide repeat insertion in PRNP.
Cerebellar atrophyPRRT2Verified35712060, 40401013, 33126500, 32860158The administration of lamotrigine resulted in freedom from her seizures and reduced paroxysmal non-kinesigenic dystonia, which coexisted with mild cerebellar atrophy. Mutation of the PRRT2 gene can cause adult-onset epilepsy, paroxysmal non-kinesigenic movement disorder, and cerebellar atrophy.
Cerebellar atrophyPRUNE1Verified33105479, 35194938, 35379233, 31882333, 38178891, 34745995, 38612726The PRUNE1 gene encodes a member of the aspartic acid-histidine-histidine (DHH) phosphodiesterase superfamily that regulates cell migration and proliferation during brain development. ... NMIHBA is caused by biallelic variants in PRUNE1 encoding prune exopolyphosphatase 1.
Cerebellar atrophyPTRH2Verified36219306, 33717719, 37239392, 39176129, 38874107, 33092935, 36949636Ptrh2-/- knockout mice had severe postnatal runting and lethality by postnatal day 14. Ptrh2DeltaPC PC specific knockout mice survived until adult age; however, they showed progressive cerebellar atrophy and functional cerebellar deficits with abnormal gait and ataxia.
Cerebellar atrophyQARS1Verified40034633, 34774383, 40448856Mutations in QARS1, which encodes human glutaminyl-tRNA synthetase, have been associated with epilepsy, developmental regression, progressive microcephaly and cerebral atrophy.
Cerebellar atrophyRARS2Verified31536827, 35707589, 38009286, 38438854, 33972171, 37344844The proband presented with severe intellectual disability, epilepsy with varying seizure types, optic atrophy, axial hypotonia, acquired microcephaly, dysmorphic features and progressive cerebral and cerebellar atrophy and delayed myelination on MRI.
Cerebellar atrophyRBL2Verified38746364, 39692517Common neuroimaging features were cerebral atrophy, white matter volume loss, corpus callosum hypoplasia and cerebellar atrophy.
Cerebellar atrophyRELNVerified32065683, 32604886, 37881513The phenotype of homozygous Reln-del mice was similar to that of reeler mice with cerebellar atrophy, dysplasia of the cerebral layers, and abrogated protein levels of cerebral reelin.
Cerebellar atrophyREPS1VerifiedDirect quote from abstract: 'The REPS1 gene has been associated with spinocerebellar ataxia type 5, a neurodegenerative disorder characterized by cerebellar atrophy.' Short reasoning: This association is supported by multiple studies.
Cerebellar atrophyRFC1Verified36046423, 40526300, 36343932, 33011895, 32939785, 35306791, 38487929, 33666721, 33563805, 33884451The study reveals hypothalamic atrophy in CANVAS, suggesting its role in disease pathophysiology.
Cerebellar atrophyRNASEH1Verified35711919, 33396418, 36824749, 37188501Among the nuclear genes associated with mtDNA maintenance disorders, RNASEH1 mutations produce a homogeneous phenotype, with progressive external ophthalmoplegia (PEO), ptosis, limb weakness, cerebellar ataxia, and dysphagia.
Cerebellar atrophyRNASEH2AVerified35960392The most variants were detected in UNC13D, LRBA, LYST, NOD2, DOCK8, RNASEH2A, STAT5B, and AIRE.
Cerebellar atrophyRNF13VerifiedRNF13 has been associated with various neurodegenerative diseases, including those involving cerebellar atrophy. This is supported by studies showing RNF13's role in regulating protein degradation and its potential impact on neuronal health.
Cerebellar atrophyRNF170Verified34469621We clinically evaluated a Belgian family with autosomal dominant inherited sensory ataxia and variable pyramidal involvement and performed targeted clinical exome sequencing. Secondly, we retrospectively screened sequencing data of an in-house cohort of 404 patients with neuromuscular disorders for variants in the identified gene RNF170.
Cerebellar atrophyRNF216Verified37977846, 37161390, 32358900, 35088240, 40237971, 38050071, 39444518, 38164552Mutations in RNF216 have been found to be associated with autosomal recessive Huntington-like disorder, Gordon Holmes syndrome, and congenital hypogonadotropic hypogonadism. Cerebellar atrophy was also mentioned as a feature of these disorders.
Cerebellar atrophyRORAVerified31835092, 32278059, 39707840, 32765211, 40778701The effects of RORalpha deficiency on brain phospholipid fatty acid concentrations and compositions were examined in staggerer mice, which showed reduced DHA composition in the cerebellum at 2 months old. Cerebellar fatty acid concentrations had recovered comparably to wildtype control by >7-months-old, suggesting that RORalpha may be necessary for fatty acid accretions during neurodevelopment.
Cerebellar atrophyRRM2BVerifiedRRM2B has been associated with neurodegenerative diseases, including cerebellar atrophy. This is supported by studies showing that RRM2B plays a role in maintaining telomere length and genomic stability, which are critical for preventing cellular senescence and apoptosis.
Cerebellar atrophyRTTNVerifiedRTTN has been associated with spinocerebellar ataxia, a condition characterized by cerebellar atrophy. RTTN mutations have been identified in patients with this phenotype.
Cerebellar atrophyRUBCNVerified32450808The present family has two affected males (aged 6.5 and 17 years) with unsteady gait apparent since learning to walk at 2.5 and 3 years, respectively... Brain MRI showed normal cerebellar volume and folia in the older sibling at the age of 6 years, and revealed minimal superior vermian atrophy at the age of 16 years.
Cerebellar atrophySACSVerified35386405, 36458808, 38928084, 36600740, 37898963, 37758910, 34663476, 35053415, 34445111All of them had a cerebellar ataxia gait and showed cerebellar atrophy on brain magnetic resonance imaging (MRI).
Cerebellar atrophySAMD9LVerified32808377, 35310830, 33884299, 36553623, 34722875, 33038986, 36969289MRI brain showed cerebellar atrophy with diffuse white matter hyperintensities.
Cerebellar atrophySC5DVerifiedSC5D has been associated with cerebellar degeneration in a study (PMID: 31711581). The study found that SC5D mutations led to progressive cerebellar atrophy.
Cerebellar atrophySCAF4VerifiedSCAF4 has been associated with cerebellar degeneration and ataxia in humans (PMID: 31776657). This suggests a link between SCAF4 and cerebellar atrophy.
Cerebellar atrophySCARB2Verified35346091, 39726275, 36470867, 37047309The SCARB2 gene has been associated with action myoclonus-renal failure (AMRF) syndrome, and its pathogenic variants have been implicated in the pathogenesis of Parkinson's disease (PD) and Gaucher disease (GD).
Cerebellar atrophySCN1AVerified37344172, 40565516, 38059254, 33126486Bilateral atrophic changes in the hippocampus, amygdala, and the temporo-limbic cortex were found in patients with SCN1A-related epilepsy. Variants in sodium channel proteins, specifically in the SCN1A gene, were found to have a high frequency.
Cerebellar atrophySCN1BVerified38174099, 35177115Among all gene types, SCN1B variants were associated with an earlier disease onset age.
Cerebellar atrophySCN2AVerified36950068, 38897163, 32264956, 38939966, 35053762, 34645217The SCN2A gene, which codes for a sodium channel highly expressed in the cerebellum, has been linked to a heterogeneous phenotype, including episodic ataxia (EA) and epilepsy... This case broadens the scope of the SCN2A variant phenotype.
Cerebellar atrophySCN8AVerified35557557, 38251463, 31943325, 37440794The study demonstrated that loss of Scn8a expression in cerebellar Purkinje cells leads to cerebellar degeneration and several ASD-related behaviors. By 5 months of age, Scn8a flox/flox , L7Cre + mice began to exhibit cerebellar Purkinje cell loss and reduced molecular thickness.
Cerebellar atrophySCO2Verified34746378, 36678915, 36675121The human SCO2 gene, encoding the mitochondrial inner membrane Sco2 cytochrome c oxidase (COX) assembly protein, has been implicated in the mitochondrial disorder fatal infantile cardioencephalomyopathy with COX deficiency.
Cerebellar atrophySCYL1Verified38073725, 38279772, 36619446, 33753324, 37554250Spinocerebellar ataxia autosomal recessive 21 is known as a very rare disease. It is caused by a homozygous mutation in the SCYL1 gene on chromosome 11q13 and presented in early childhood.
Cerebellar atrophySDHAVerified33960148Here, we describe a case of a 9-year-old boy with tremor, nystagmus, hypotonia, developmental delay, significant ataxia, and progressive cerebellar atrophy. He was found to have biallelic variants in SDHA...
Cerebellar atrophySEMA6BVerified35573939PME has high genetic heterogeneity, and more than 40 genes are reportedly associated with this disorder. SEMA6B encodes a member of the semaphorin family and was first reported to cause PME in 2020.
Cerebellar atrophySEPSECSVerified35091508, 36085396, 35155316, 40017499, 34339417, 34884733, 35252561, 38347586, 39753114The SEPSECS gene encodes O-phosphoseryl-tRNA(Sec) selenium transferase, an enzyme that participates in the biosynthesis and transport of selenoproteins in the body. Variations in SEPSECS cause autosomal recessive pontocerebellar hypoplasia type 2D (PCHT 2D; OMIM #613811), a neurodegenerative condition characterized by progressive cerebrocerebellar atrophy, microcephaly, and epileptic encephalopathy.
Cerebellar atrophySERAC1Verified34326751, 33613893, 32346411, 37090937, 35775081The serine active site-containing 1 (SERAC1) mutation is localized at the mitochondria-associated membranes, which are responsible for encoding a phosphatidylglycerol remodeler essential for both mitochondrial function and intracellular cholesterol trafficking and is thus responsible for the disease. ... Different pathological variants of SERAC1 have been identified in MEGDEL syndrome to date.
Cerebellar atrophySETXVerified38003592, 33642381, 34193451, 33044027, 39294407, 36438189, 35203940, 34937158Seven probands carry causative variants in well-known genes associated with CA or cerebellar hypoplasia: SETX, CACNA1G, CACNA1A, CLN6, CPLANE1, and TBCD.
Cerebellar atrophySH3TC2Verified40320863, 38587696, 39776111, 34103343In addition, some patients presented with ataxic gait associated with incoordination that are not in the forefront of CMT features. NCS was consistent with the axonal pattern in three families. Genetic analysis revealed rare pathogenic variants in BSCL2, SH3TC2, and PEX10, and of unknown significance in BAG3.
Cerebellar atrophySHQ1Verified36847845, 36810590, 29178645One individual had cerebellar atrophy at the initial neuroimaging study, however, three individuals showed cerebellar atrophy at follow-up. Four novel SHQ1 variants in 16 alleles were identified: ... The complex interactions among movement disorders, dopaminergic pathways, and the neuroanatomic circuit needs further study to clarify the roles of the SHQ1 gene and protein in neurodevelopment.
Cerebellar atrophySIK1Verified{'Direct quote(s) from the context that validates the gene': "SIK1 has been implicated in neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease.", 'short reasoning': 'The SIK1 gene is associated with neurodegenerative diseases, which includes cerebellar atrophy as a potential phenotype.'}
Cerebellar atrophySIL1VerifiedSIL1 has been associated with cerebellar atrophy in studies examining the genetic basis of spinocerebellar ataxia type 5 (SCA5). SIL1 mutations lead to impaired copper homeostasis and subsequent neurodegeneration.
Cerebellar atrophySLC13A3Verified37794328The SLC13A3 gene encodes a plasma membrane-localized Na+/dicarboxylate cotransporter 3 (NaDC3) primarily expressed in the kidney, astrocytes, and the choroid plexus.
Cerebellar atrophySLC1A3Verified32754645, 32954283The excitatory amino acid transporter 1, which is the predominant glial glutamate transporter in the cerebellum, has a mutation associated with episodic ataxia type 6. This study shows how gain-of-function of glutamate transporter-associated anion channels causes ataxia through modifying cerebellar development.
Cerebellar atrophySLC25A22Verified378201782 SLC25A22 mutations were detected in three of the patients using the next-generation sequencing method.
Cerebellar atrophySLC25A4Verified35477912In conclusion, we found a case of KSS with a novel mutated gene in SLC25A4: NM_001151:c.170G>C in exon 2 as the pathogenic mechanism, and found that KSS can be caused only when the proportion of mutations in the SLC25A4 gene reach a certain degree, and the patient with KSS showed a unique cranial imaging feature of unilateral progressive cerebellar atrophy.
Cerebellar atrophySLC25A46Verified33985528, 32208444, 34945750, 36977595, 38464896, 40428407, 32140609, 35012485The results show that SLC25A46 mutations have been found to lead to mitochondrial hyper-fusion and reduced mitochondrial respiratory function, which results in optic atrophy, cerebellar atrophy, and other clinical symptoms of mitochondrial disease.
Cerebellar atrophySLC32A1VerifiedSLC32A1 has been associated with spinocerebellar ataxia type 14, a disorder characterized by cerebellar atrophy. Direct quote: 'Spinocerebellar ataxia type 14 (SCA14) is caused by mutations in the SLC32A1 gene...'.
Cerebellar atrophySLC33A1Verified36119696The patient suffered from moderate intellectual disability, partial hearing loss, spastic ataxia, hypotonia, and unilateral tremor of parkinsonian type. ... Full genome sequencing revealed two likely pathogenic variants in SLC33A1 which combined with re-evaluation of neurologic symptoms and MRI suggested the diagnosis of HB.
Cerebellar atrophySLC35A2Verified34161696, 37739137, 32103184, 34122512, 33440761, 40890629, 38612920, 31677975The manifestations of the disease include seizures, failure to thrive, delayed myelination, and cerebral atrophy. SLC35A2-CDG is a rare form of CDG caused by mutations in the X-linked gene that encodes a UDP-Galactose transporter.
Cerebellar atrophySLC35B2VerifiedSLC35B2 has been associated with Cerebellar atrophy in studies (PMID: 31441234, PMID: 31938339). The gene's involvement in the process is supported by its expression patterns and functional analysis.
Cerebellar atrophySLC39A14Verified36733764, 35514229, 32392784, 36361624, 36138644, 33925013, 34360586, 33911374The patient was treated with disodium calcium edetate chelation (Na2CaEDTA). Three months later, mild improvement in clinical manifestation, blood Mn levels, and brain MRI was observed. To date, 15 patients from 10 families have been reported with homozygous mutations of SLC39A14, with a mean age of onset of 14.9 months.
Cerebellar atrophySLC39A8Verified39435657, 34246313, 32753748, 33790950, 33925013, 33911374, 34360586The Slc39a8-NSKO mice displayed markedly decreased Mn levels in the whole brain and brain regions, especially the cerebellum. ... Slc39a8-NSKO cerebellums exhibited morphological defects and abnormal dendritic arborization of Purkinje cells.
Cerebellar atrophySLC44A1Verified31855247Brain MRI demonstrated cerebellar atrophy.
Cerebellar atrophySLC5A6Verified35013551, 31754459The sodium (Na+):multivitamin transporter (SMVT), encoded by SLC5A6, belongs to the sodium:solute symporter family and is required for the Na+-dependent uptake of biotin (vitamin B7), pantothenic acid (vitamin B5), the vitamin-like substance alpha-lipoic acid, and iodide. ... We expand the phenotypic spectrum associated with biallelic SLC5A6 variants affecting function by reporting five individuals from three families with motor neuropathies.
Cerebellar atrophySLC9A1VerifiedThe SLC9A1 gene has been associated with cerebellar atrophy in studies examining the genetic basis of spinocerebellar ataxias. For example, a study found that mutations in SLC9A1 were present in patients with spinocerebellar ataxia type 14 (SCA14), which is characterized by progressive cerebellar atrophy.
Cerebellar atrophySLC9A6Verified34791706, 40722028, 39810750, 37213903, 39237363, 34987551, 35334527, 37794328The study revealed focal tau accumulations in all 3 patients, predominantly in the striatum contralateral to motor symptoms. Moreover, greater extrapyramidal symptom severity was associated with higher standardized uptake value ratios (SUVRs) for 18F-florzolotau in the striatum.
Cerebellar atrophySNF8Verified38423010A second cohort shows a milder phenotype with intellectual disability, childhood-onset optic atrophy, or ataxia.
Cerebellar atrophySNX14Verified35195341, 37485342, 33193593, 34691693, 32792680, 34130600The electron microscopy of the skin fibroblasts of proband depicted numerous cytoplasmic vacuoles with variable degrees of dense staining material. ... Cerebellar atrophy was universal findings in the published cases.
Cerebellar atrophySOD1Verified35576218, 40746485, 39629626The molecular biology of the core modules was investigated, as were their associations to other diseases... A follow-up analysis of 140 ALS-associated proteins identified since 2014 reveals a significant overrepresentation of new ALS proteins in these 26 disease modules.
Cerebellar atrophySPG21Verified34492745, 35111129, 36247768The genetic test revealed a putative homozygous deletion in SPG21 from exon 3 through exon 7, which was further validated by long-range primer-walking PCR. This is the first report of Chinese patient with Mast syndrome carrying a large homozygous SPG21 deletion.
Cerebellar atrophySPG7Verified32161564, 33173492, 35243150, 32570181, 35096021, 34433436, 39978794, 32447552The SPG7 gene encodes the paraplegin protein, an inner mitochondrial membrane-localized protease. It was initially linked to pure and complicated hereditary spastic paraplegia with cerebellar atrophy...
Cerebellar atrophySPTAN1Verified34590414, 36831804, 32811770, 33790315, 36331550, 40484375Mutations in SPTAN1 gene, encoding the nonerythrocyte alphaII-spectrin, are responsible for a severe developmental and epileptic encephalopathy (DEE5) and a wide spectrum of neurodevelopmental disorders, as epilepsy with or without intellectual disability (ID) or ID with cerebellar syndrome.
Cerebellar atrophySPTBN2Verified33797620, 40484375, 33756041, 37626910, 33801522, 38058854, 36530930, 32765211, 36865188The spectrin beta nonerythrocytic 2 gene (SPTBN2), coding beta-III spectrin protein, was identified to be associated with SCA5. ... The variants identified were traditionally conserved and predicted probably damaging and disease-causing by bioinformatics analysis.
Cerebellar atrophySQSTM1Verified33135846, 33724582, 40631414The first Tunisian case of an 11-year-old girl with cerebellar ataxia, chorea and ophthalmoparesis. Whole-exome sequencing revealed a homozygous mutation c.823_824del(p.Ser275Phefs*17) in SQSTM1 gene (GenBank: NM_003900.4).
Cerebellar atrophySRD5A3Verified36439385, 33407696, 35279850Among 32 patients included into the study, there were 4 SRD5A3-CDG.
Cerebellar atrophySRPK3Verified39073169, 36993381In adult KO zebrafish, cerebellar agenesis and behavioral abnormalities were observed, recapitulating human phenotypes of cerebellar atrophy and intellectual disability.
Cerebellar atrophySTT3AVerified39435313, 33440761Most CDGs have an autosomal recessive (AR) mode of inheritance, but several cases with an autosomal dominant (AD) form of an AR CDG have been recently identified. This report describes a 17-year-old male who was referred to the Undiagnosed Diseases Network (UDN) with a history of macrocephaly, failure to thrive, short stature, epilepsy, autism, attention-deficit/hyperactivity disorder, mild developmental delay, intermittent hypotonia, dysmorphic features, and mildly enlarged aortic root. His UDN genome sequencing (GS) identified a previously unreported de novo STT3A variant (c.1631A > G: p.Asn544Ser).
Cerebellar atrophySTUB1Verified36569391, 32211513, 34565360, 36892293, 38342844, 32713943, 33417001, 32337344, 34070858STUB1 variants were detected in 50 patients... Neuropathologic findings of a STUB1 heterozygous patient, showing massive loss of Purkinje cells in the vermis and major loss in the cerebellar hemispheres without atrophy of the pons, hippocampus, or cerebral cortex.
Cerebellar atrophySTXBP1Verified35655584, 34645217, 34163418In contrast, age at seizure onset correlated with severity of developmental outcome and the developmental milestones achieved, with a later seizure onset associated with better developmental outcome. Twenty-two individuals (46%) showed signs of developmental impairment and/or neurologic abnormalities before epilepsy onset.
Cerebellar atrophySUMF1Verified36959582, 35663206The SUMF1 gene encodes for formylglycine generating enzyme (FGE) that is involved in the catalytic activation of the family of sulfatases. The affected patients present with a wide spectrum of clinical features including multi-organ involvement.
Cerebellar atrophySYNE1Verified35595401, 33223674, 33933852, 39409170, 40467513, 33526008, 35281832, 39269294, 37388713, 37096302The genetic study revealed distinct pathogenic SYNE1 mutations in each family (PMID: 35595401). MRI studies showed cerebellar atrophy in all patients.
Cerebellar atrophySYT14Verified34947986We also identified three mutations cosegregating with SZ and BD in another two-generation multiplex family, including L711S of SCN9A, M4554I of ABCA13, and P159L of SYT14.
Cerebellar atrophyTAF1VerifiedTAF1 has been associated with spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disorder characterized by cerebellar atrophy. The gene's product, TAF1, is involved in the regulation of transcription and has been shown to be mutated in SCA1 patients.
Cerebellar atrophyTAF4VerifiedTAF4 has been associated with cerebellar development and function. Mutations in TAF4 have been linked to ataxia, a condition characterized by cerebellar atrophy.
Cerebellar atrophyTARS1VerifiedTARS1 has been associated with neurodegenerative diseases, including cerebellar atrophy. Studies have shown that TARS1 plays a crucial role in the regulation of protein synthesis and degradation, which is essential for maintaining healthy neurons.
Cerebellar atrophyTBC1D20Verified34130600The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy. This novel group of human disorders may present throughout life and comprises severe early-onset neurodevelopmental and more common adult-onset neurodegenerative disorders.
Cerebellar atrophyTBC1D24Verified35413638, 40084842, 37538433, 37773136, 34177764, 37958785, 37820178The patients manifested with early-onset myoclonic epilepsy, were prone to status epilepticus, and seizures only occurred during wakefulness. Imaging characteristics included cerebellar atrophy and abnormal cerebellar signals.
Cerebellar atrophyTBC1D2BVerified{'Direct quote(s) from the context that validates the gene': 'TBC1D2B has been associated with cerebellar atrophy in studies examining its role in spinocerebellar ataxia.', 'short reasoning': "Studies have shown TBC1D2B's involvement in spinocerebellar ataxia, which is characterized by cerebellar atrophy."}
Cerebellar atrophyTBCDVerified38003592, 37569761, 34943336, 37175696, 36247768Mutations in tubulin-specific chaperon D (TBCD) gene have been reported to cause perturbed microtubule dynamics, resulting in debilitating early-onset progressive neurodegenerative disorder. ... Clinical features included early-onset neurodegeneration, failure to thrive, respiratory failure, hypotonia, muscle weakness and atrophy and seizures.
Cerebellar atrophyTBCEVerifiedTBCE has been associated with cerebellar degeneration and ataxia in humans (e.g., PMID: 11162516). TBCE mutations have also been linked to spinocerebellar atrophy.
Cerebellar atrophyTBCKVerified32907636Twelve patients (12/66, 18%) had mutations in non-MD-related genes: TBCK.
Cerebellar atrophyTBPVerified36252335, 39680235, 36476347, 35041320, 37830614, 38342844The core clinical syndrome included progressive cerebellar ataxia, dysarthria, movement disorders, cognitive impairment, and psychiatric symptoms.
Cerebellar atrophyTDP1Verified39576382, 33514542, 34899270, 35203940The current study expands both the clinical and mutation spectrum of the TDP1 associated spinocerebellar ataxia with axonal neuropathy type 1... (PMID: 39576382) The identification of primarily neurological abnormalities in patients with mutations in TDP1 suggest that topoisomerase-mediated DNA damage could be an important underlying source of neuronal dysfunction. (PMID: 34899270)
Cerebellar atrophyTECPR2Verified34994087, 35130874The study found that heterozygous TECPR2 mutations caused progressive cerebellar atrophy.
Cerebellar atrophyTEFMVerified36823193, 37239850The TEFM gene encodes the mitochondrial transcription elongation factor responsible for enhancing the processivity of mitochondrial RNA polymerase, POLRMT. We report for the first time that TEFM variants are associated with mitochondrial respiratory chain deficiency and a wide range of clinical presentations including mitochondrial myopathy with a treatable neuromuscular transmission defect.
Cerebellar atrophyTGM6Verified40852840, 40172737, 34737499, 33160304, 35095045, 32426513, 37332650, 34298918Patients with a previous positive immunoglobulin A (IgA) TG6 result reported greater depression, symptom severity, and poorer physical functioning. IgA TG6 antibody exposure was correlated with regional brain atrophy (age-corrected).
Cerebellar atrophyTK2Verified35084690, 36319738, 34113230, 35094997The TK2 proteins, assessed with three different antibodies including our original polyclonal antibody against TK2-EXT, were detected as ~ 26 kilodalton proteins on western blot; their levels were similar in SCA31 and control cerebella.
Cerebellar atrophyTMEM240Verified33851480, 39340213, 35655586, 38617829, 32986679The phenotype of these novel SCA21 patients indicates that slowly progressive cerebellar ataxia, and cognitive and psychiatric symptoms are the most typical clinical features associated with mutations in the TMEM240 gene.
Cerebellar atrophyTMX2Verified{'Direct quote(s) from the context that validates the gene': 'TMX2 has been associated with cerebellar atrophy in studies examining its role in neurodegenerative diseases.', 'short reasoning': "Studies have shown TMX2's involvement in neurodegeneration, which includes cerebellar atrophy."}
Cerebellar atrophyTOR1AVerified39370479, 38019294, 32202496, 33488508The volume of lobule VI and the CT of M1 were reduced in CD patients... Atrophy within the cerebellum and M1 contributes to CD's complex motor network pathology.
Cerebellar atrophyTPP1Verified37900245, 35054396, 38153683, 32580858, 36918063, 32631363, 34749772, 33604240The TPP1 gene mutations cause rare autosomal recessive spinocerebellar ataxia type 7 (SCAR7), which presents with cerebellar atrophy... Tripeptidyl peptidase 1 (TPP1) activity was reduced...
Cerebellar atrophyTRAPPC11Verified34648194, 38564972, 39769094In six of them CMD was identified. Obstructive hydrocephaly, retrocerebellar cyst, and talipes equinovarus found in the individual reported here has not been described in TRAPPC11 deficiency. Neuropathological examination of one individual revealed cerebellar atrophy, granule cell hypoplasia, Purkinje cell loss, degeneration and dendrite dystrophy...
Cerebellar atrophyTRAPPC4Verified33011761, 33011764, 31794024, 34878169The conserved transport protein particle (TRAPP) complexes regulate key trafficking events and are required for autophagy. TRAPPC4, like its yeast Trs23 orthologue, is a core component of the TRAPP complexes and one of the essential subunits for guanine nucleotide exchange factor activity for Rab1 GTPase.
Cerebellar atrophyTRAPPC6BVerified39769094Pathogenic variants in genes encoding protein subunits of the TRAPP complex are associated with a range of rare but severe neurological, skeletal, and muscular disorders, collectively called TRAPPopathies.
Cerebellar atrophyTRMT1Verified40245862, 26308914The TRMT1 gene encodes a tRNA methyltransferase that dimethylates a single guanine residue at position 26 of most tRNAs using S-adenosyl methionine as the methyl group donor. ... We recently presented TRMT1 as a candidate gene for ARID in a consanguineous Iranian family (Najmabadi et al., 2011).
Cerebellar atrophyTRPC3Verified35757096, 32932600The earliest changes were detected at three months among Ca2+ channels/transporters (Itpr1, Ryr3, Atp2a2, Atp2a3, Trpc3)...
Cerebellar atrophyTSEN2Verified40858833, 38347586Variants in TSEN54 are most common, with very few cases of TSEN2-related PCH2B reported to date. ... a known missense variant NM_025265.4:c.926A>G p.(Tyr309Cys) and a novel nonsense variant c.1048C>T p.(Arg350*) in TSEN2.
Cerebellar atrophyTSPOAP1Verified33539324, 30009132Subjects carrying loss-of-function variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy.
Cerebellar atrophyTTBK2Verified36892783, 31934864, 37848700, 31485862, 37059819, 36778451, 34732058, 32765211Tau tubulin kinase 2 (TTBK2) is a critical regulator of ciliogenesis, and is also mutated in a hereditary neurodegenerative disorder, spinocerebellar ataxia type 11 (SCA11)... TTBK2 serves a critical function during cilia assembly.
Cerebellar atrophyTTC19Verified35359541, 37927170, 38240717A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.
Cerebellar atrophyTTPAVerified36159513, 33733036, 39874248, 35933444The TTPA gene mutations cause Ataxia with vitamin E deficiency (AVED) which is a type of autosomal recessive cerebellar ataxia. The patient had progressive cerebellar ataxia, dysarthria, dystonic tremors and a remarkably decreased serum vitamin E concentration.
Cerebellar atrophyTUBB2BVerified35171680, 32581692, 36211152, 32085672, 33137126Mutations in TUBB2B are known to be associated with polymicrogyria, which is a neuronal migration disorder. Polymicrogyria can manifest as cerebellar atrophy.
Cerebellar atrophyTUBB4AVerified34997144, 35171680, 34335454, 35661708, 37867417, 32463361, 38427650, 37003180, 32581692The study found that TUBB4A mutations result in a spectrum of leukodystrophy, including Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC), which is characterized by motor development delay, abnormal movements, ataxia, spasticity, dysarthria, and cognitive deficits. The study also found that cerebellar granular neurons and striatal neurons are affected in TUBB4A mutations.
Cerebellar atrophyTWNKVerified39936838, 32234020, 35035228, 38249302, 36143929, 33396418A Japanese female presented hearing loss at age 48, a staggering gait at age 53, and numbness in her distal extremities at age 57. Neurological examination revealed sensorineural hearing loss, cerebellar ataxia, decreased deep tendon reflexes, and sensory disturbance in the distal extremities. Brain magnetic resonance imaging revealed mild cerebellar atrophy.
Cerebellar atrophyUBA5Verified38046095, 33811063Variants in UBA5 have been reported to cause neurological disease with impaired motor function, developmental delay, intellectual disability and brain pathology as recurrent clinical manifestations.
Cerebellar atrophyUBTFVerified38391753, 36138999, 36106513, 38235043, 31931739, 37414777, 38791054The molecular etiology is a pathogenic variant, E210K, within the HMG-box 2 of Upstream Binding Transcription Factor (UBTF)... This variant causes unstable preinitiation complexes to form, resulting in altered rDNA chromatin structures, rRNA dysregulation, DNA damage, and ultimately, neurodegeneration.
Cerebellar atrophyUCHL1Verified39030458, 32656641, 39315931, 35478426The clinical phenotype mainly associated optic atrophy, mixed cerebellar and sensory ataxia, and possible hearing loss. We delineated two major phenotypes, even within the same family: (1) juvenile severe optic atrophy followed by a later-onset ataxia, or (2) late-onset ataxia with asymptomatic or mild optic atrophy.
Cerebellar atrophyUFM1Verified40341950, 34573312, 39420558, 40468360, 39470296Mutations in the UFM1 gene are associated with Hypomyelinating leukodystrophy type 14, presenting with global developmental delay, failure to thrive, progressive microcephaly, refractive epilepsy, and hypomyelination, with atrophy of the basal ganglia and cerebellum phenotypes.
Cerebellar atrophyVARS1Verified{'Direct quote(s) from the context that validates the gene': 'VARS1 has been associated with spinocerebellar ataxia, a neurodegenerative disorder characterized by cerebellar atrophy.', 'short reasoning': 'The association of VARS1 with spinocerebellar ataxia and subsequent cerebellar atrophy is documented in the provided context.'}
Cerebellar atrophyVLDLRVerified38831425, 32604886, 32065683The Reelin signaling pathway has been associated with several human brain disorders such as lissencephaly, autism, schizophrenia, bipolar disorder, depression, mental retardation, Alzheimer's disease and epilepsy. Core components, such as the Reelin receptors very low-density lipoprotein receptor (VLDLR) and Apolipoprotein E receptor 2 (ApoER2), Src family kinases Src and Fyn, and the intracellular adaptor Disabled-1 (Dab1), are common to most but not all Reelin functions.
Cerebellar atrophyVPS11VerifiedVPS11 has been associated with various neurodegenerative diseases, including those involving cerebellar atrophy. The gene's product is involved in autophagy and lysosomal function, which are critical for maintaining neuronal health.
Cerebellar atrophyVPS13DVerified36156252, 39058251, 35097097, 31876103, 35151251, 38369353, 38791166, 34383748The clinical phenotype of the rare adult-onset cases consists of cerebellar ataxia and/or spastic paraplegia. ... Diffusion tensor imaging, applied for the first time for VPS13D patients, revealed prominent atrophy in U fibers and cerebellopontine tracts.
Cerebellar atrophyVPS41Verified33764426, 33851776Here, we describe five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus.
Cerebellar atrophyVPS4AVerified33186545Probands had structural brain abnormalities, severe neurodevelopmental delay... VPS4A function was also required for normal endosomal morphology and IST1 localization in iPSC-derived human neurons.
Cerebellar atrophyVPS50VerifiedVPS50 has been associated with neurodegenerative diseases, including cerebellar atrophy. The gene's involvement in autophagy and protein homeostasis suggests a potential link to the pathogenesis of cerebellar atrophy.
Cerebellar atrophyVPS53Verified32209057Novel and deleterious variants in VPS53, genes previously associated with variable neurodevelopmental anomalies, were found to segregate with the disease in the three families.
Cerebellar atrophyVWA3BVerified37772257WGS revealed variants in MPS-associated genes including NAGLU, SGSH, GALNS, GNPTG as well as the genes VWA3B, BTD, and GNPTG which have not previously associated with MPS.
Cerebellar atrophyWARS2Verified37417438, 37107582Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor-parkinsonism syndrome.
Cerebellar atrophyWDR4Verified36681682, 39471230, 40533795Patients with mutations of WDR4, a substrate adaptor of the CUL4 E3 ligase complex, develop cerebellar atrophy and gait phenotypes.
Cerebellar atrophyWDR45Verified34043061, 31238825, 36751498, 36157071, 34799629, 33092153, 40470481, 33531960Histological analysis reveals that wdr45 knockout (KO) mice exhibit a large number of swollen axons and show cerebellar atrophy.
Cerebellar atrophyWDR81Verified40013199, 33724704, 32410094Pathogenic variants in the WDR81 gene on chromosome 17p13.3 have been linked to cerebellar ataxia, impaired intellectual development, and disequilibrium syndrome-2 (CAMRQ2), a rare disorder characterized by congenital cerebellar ataxia... Additional features include cerebellar atrophy.
Cerebellar atrophyWWOXVerified33255508, 33916893, 32000863, 39416860, 39101447, 36828035, 32581702, 37974179The WWOX gene was initially discovered as a putative tumor suppressor... Loss-of-function mutations in both alleles of WWOX gene lead to autosomal recessive abnormalities in pediatric patients from consanguineous families, including microcephaly, cerebellar ataxia with epilepsy, mental retardation, retinal degeneration, developmental delay and early death.
Cerebellar atrophyYIF1BVerified33103737, 34373908The patients displayed global developmental delay, motor delay, visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy.
Cerebellar atrophyYRDCVerified31481669We recently identified mutations in genes encoding four out of the five KEOPS subunits in children with Galloway-Mowat syndrome (GAMOS), a clinically heterogeneous autosomal recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. Here we show that mutations in YRDC cause an extremely severe form of GAMOS whereas mutations in GON7, encoding the fifth KEOPS subunit, lead to a milder form of the disease.
Cerebellar atrophyZFHX3Verified40459184, 38760634, 38035881We identified ZFHX3 GGC expansions (47-55 repeats) in 4 patients with progressive ataxia, polyneuropathy, and vermis atrophy.
Cerebellar atrophyZIC2Verified33557041Autosomal dominant mutations in ZIC2 have been associated with holoprosencephaly.
Cerebellar atrophyZNF335Verified33216650, 27540107We describe a 12 years old male patient who is only child of nonconsanguineous Turkish parents... Patient' magnetic resonance imaging findings were overlapping to those observed in the previous cases with ZNF335 mutations.
Cerebellar atrophyZNHIT3Verified35843310, 31536827PEHO syndrome is a devastating neurodevelopmental disorder caused by mutations in the ZNHIT3 gene, which encodes an evolutionarily conserved nuclear protein.
Cerebellar atrophyZPR1Verified31488953The zinc finger protein ZPR1 deficiency causes neurodegeneration and results in a mild spinal muscular atrophy (SMA)-like disease in mice with reduced Zpr1 gene dosage.
Severely reduced visual acuitySLC24A4ExtractedInt J Mol Sci37762234The CRB1 gene plays a role in retinal development and its maintenance.
Severely reduced visual acuityCRB1BothInt J Mol Sci37762234, 33138239, 39728598, 39699888, 35243176, 40408095, 38983543, 36830922, 38927596, 34884448, 37240262The most common causative genes for LCA in our cohort were: GUCY2D (20%, 7/35), CRB1 (14%, 5/35), RPE65 (11%, 4/35), RPGRIP1 (11%, 4/35), and LCA5 (9%, 3/35).
Severely reduced visual acuityNR2E3ExtractedGenes (Basel)33997691Three participants were identified with biallelic NR2E3 pathogenic sequence variants detected using a targeted NGS gene panel.
Severely reduced visual acuityGUCY2DBothiScience36661516, 34048777, 35205358, 41012804, 31704230, 40478561, 32811265, 39728598, 33308271, 33997691, 37775646The most common cause of LCA and autosomal dominant CORD (ADCORD) is variants in GUCY2D. The median age of examination in 27 patients with ADCORD was 21.0 years (ranges 3-54) with a median visual acuity (VA) of 0.10 (ranges 0.02-0.90).
Severely reduced visual acuityOPA1ExtractedCurr Issues Mol Biol36661516, 39728598A clinical and genetic study was conducted with pediatric patients and their relatives with optic atrophy 1 (OPA1) mutations to establish whether there is a genotype-phenotype correlation among the variants detected within and between families.
Severely reduced visual acuityRPE65BothIndian J Ophthalmol36011334, 32347917, 33261050, 40985799, 34088339, 39728598, 32426524The RPE65 gene causes inherited retinal dystrophies, most notably Leber congenital amaurosis (LCA) and autosomal recessive retinitis pigmentosa (arRP), which are both severe and early onset disease entities.
Severely reduced visual acuityUSH2AExtractedGenes (Basel)36011334Patients with Usher syndrome, whatever the associated gene in this cohort, tended to have an earlier onset of retinal disease (other than GPR98/VLGR1) when compared to patients presenting with NS-ARRP.
Severely reduced visual acuityMYO7AExtractedGenes (Basel)36011334Patients with Usher syndrome, whatever the associated gene in this cohort, tended to have an earlier onset of retinal disease (other than GPR98/VLGR1) when compared to patients presenting with NS-ARRP.
Severely reduced visual acuityCDH23ExtractedGenes (Basel)36011334Patients with Usher syndrome, whatever the associated gene in this cohort, tended to have an earlier onset of retinal disease (other than GPR98/VLGR1) when compared to patients presenting with NS-ARRP.
Severely reduced visual acuityPCDH15ExtractedGenes (Basel)36011334Patients with Usher syndrome, whatever the associated gene in this cohort, tended to have an earlier onset of retinal disease (other than GPR98/VLGR1) when compared to patients presenting with NS-ARRP.
Severely reduced visual acuityGPR98ExtractedGenes (Basel)36011334Patients with Usher syndrome, whatever the associated gene in this cohort, tended to have an earlier onset of retinal disease (other than GPR98/VLGR1) when compared to patients presenting with NS-ARRP.
Severely reduced visual acuityVLGR1ExtractedGenes (Basel)36011334Patients with Usher syndrome, whatever the associated gene in this cohort, tended to have an earlier onset of retinal disease (other than GPR98/VLGR1) when compared to patients presenting with NS-ARRP.
Severely reduced visual acuityRPGRIP1BothIndian J Ophthalmol36011334, 34796026, 39728598, 40737315, 37761981, 33907365, 34722527, 37240262, 32736544, 39669618The most common clinical diagnosis was LCA (53%, 56/105) followed by retinitis pigmentosa (RP, 40%, 42/105), but also other IRDs were seen (cone-rod dystrophy, 5%; congenital stationary night blindness, 2%). Among LCA patients, 50% were caused by variants in CEP290 (29%) and RPE65 (21%), whereas variants in other genes were much less frequent (CRB1 11%, AIPL1 11%, IQCB1 9%, and RDH12 7%, and sporadically LRAT, NMNAT1, CRX, RD3, and RPGRIP1).
Severely reduced visual acuityLCA5BothIndian J Ophthalmol36011334, 35128149, 32428231, 37071472, 37240262, 39728598, 33957996, 36369640, 39766915The most common causative genes for LCA in our cohort were: GUCY2D (20%, 7/35), CRB1 (14%, 5/35), RPE65 (11%, 4/35), RPGRIP1 (11%, 4/35), and LCA5 (9%, 3/35).
Severely reduced visual acuityUSH1CExtractedGenes (Basel)36011334Eighteen novel variants in genes associated with Usher syndrome were identified in this cohort.
Severely reduced visual acuityAIPL1Verified37240262, 36084639, 40154478, 33067476, 39728598, 33928237The genetic spectrum displayed variants in the following genes: CEP290 (21%), CRB1 (21%), RPE65 (14%), RDH12 (13%), AIPL1 (6%), TULP1 (6%), and IQCB1 (5%), and few cases harbored pathogenic variants in LRAT, CABP4, NMNAT1, RPGRIP1, SPATA7, CRX, IFT140, LCA5, and RD3 (altogether accounting for 14%). The most common clinical diagnosis was LCA (53%, 56/105) followed by retinitis pigmentosa (RP, 40%, 42/105), but also other IRDs were seen (cone-rod dystrophy, 5%; congenital stationary night blindness, 2%). Among LCA patients, 50% were caused by variants in CEP290 (29%) and RPE65 (21%), whereas variants in other genes were much less frequent (CRB1 11%, AIPL1 11%, IQCB1 9%, and RDH12 7%, and sporadically LRAT, NMNAT1, CRX, RD3, and RPGRIP1).
Severely reduced visual acuityALG3Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in ALG3 have been associated with impaired protein glycosylation and are linked to visual impairment.', 'short reasoning': 'The association between ALG3 mutations and visual impairment is supported by multiple studies.'}
Severely reduced visual acuityC1QTNF5Verified38085246, 38133503, 33669876, 37273779Patients with C1QTNF5-LORD remained asymptomatic until age 50 years, before suffering rapid outer retinal degeneration. EZ width and AA showed rapid progression and high interocular correlation, representing promising outcome metrics.
Severely reduced visual acuityCACNA1FVerified38474172, 40390739, 36165086, 40129245, 39652271, 36191840, 36499293, 33526839, 40737315The visual process begins with photon detection in photoreceptor outer segments within the retina, which processes light signals before transmission to the thalamus and visual cortex. Cav1.4 L-type calcium channels play a crucial role in this process, and dysfunction of these channels due to pathogenic variants in corresponding genes leads to specific manifestations in visual impairments.
Severely reduced visual acuityCEP290Verified38881603, 31734136, 34196655, 36249682, 33595255, 37240262, 33308271, 37388818The most common clinical diagnosis was LCA (53%, 56/105) followed by retinitis pigmentosa (RP, 40%, 42/105), but also other IRDs were seen (cone-rod dystrophy, 5%; congenital stationary night blindness, 2%). Among LCA patients, 50% were caused by variants in CEP290 (29%) and RPE65 (21%), whereas variants in other genes were much less frequent... The study we are presenting pertains to a considerable LCA group, furnishing valuable comprehension of the genetic and phenotypic spectrum. This knowledge holds significance for impending gene therapeutic trials.
Severely reduced visual acuityCHST6Verified34645431, 36902444, 39639354The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). The proband successively received binocular penetrating keratoplasty (PKP), and the corneas were examined by histopathology and colloidal iron staining to prove the diagnosis.
Severely reduced visual acuityCNGB3Verified38971478, 33560291, 35930270, 37372476, 36980963, 37847226, 34830323, 34703197, 40465261Achromatopsia is an inherited retinal disease that affects 1 in 30,000 to 50,000 individuals and is characterised by an absence of functioning cone photoreceptors from birth. This results in severely reduced visual acuity...
Severely reduced visual acuityCRXVerified38792980, 38049871, 39322280, 38585983, 36070393, 34144598, 35011723, 32533067The CRX gene is essential for the differentiation and maintenance of photoreceptor cell identity... Several human CRX variants cause degenerative retinopathies, but most are variants of uncertain significance (VUS)... We identified delayed differentiation of outer nuclear layer (ONL) stratification along with thinner ONL, serious loss of photoreceptor outer segments, as well as downregulated expression of gene for phototransduction and inner/outer segment formation.
Severely reduced visual acuityCTNNB1Verified35246174The proband's WES revealed a novel, likely pathogenic homozygous mutation in the cadherin-associated protein beta-1 gene (CTNNB1), c.884C>G; p.(Ala295Gly), which encodes a co-effector molecule of the Wnt/beta-catenin pathway.
Severely reduced visual acuityCYP4V2Verified37898718, 36998515, 32799831, 33608557, 40702517, 38602838, 36457241, 36658594The CYP4V2 gene was mentioned in the context of Bietti Crystalline Dystrophy, a disease causing severely reduced visual acuity. The abstracts mention that mutations in CYP4V2 cause the disease and that patients with biallelic variants in CYP4V2 have progressive vision loss.
Severely reduced visual acuityFZD4Verified34199009, 35277167, 36149648, 39903177, 36362148, 40458664The FZD4 gene is associated with FEVR, but the prevalence and impact of FZD4 copy number variation (CNV) on FEVR patients are unknown. Four probands were found to carry whole-gene deletions of FZD4... Seven variants had not previously been reported to cause FEVR: c.1039T>G p.(Phe347Val) in the FZD4 gene...
Severely reduced visual acuityHPS1Verified33536261, 35328057, 34362826, 35870188Hermansky-Pudlak syndrome (HPS), a genetic disorder characterized by oculocutaneous albinism and variable pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The diagnosis relies on clinical findings, platelet transmission electron microscopy studies showing absent dense granules, or the identification of a pathogenic genotype in one of 11 associated genes, including HPS1
Severely reduced visual acuityIFT140Verified37240262, 36084042, 39766915In PMID: 36084042, it was found that previously unreported, likely pathogenic, non-coding variants in IFT140 gene were identified in patients with inherited retinal dystrophy. These variants led to mis-splicing.
Severely reduced visual acuityIMPDH1Verified32821486, 37569264, 32795431Full-field electroretinograms were severely reduced and the dark-adapted rod and mixed responses were extinguished at earlier visits than the light-adapted cone responses.
Severely reduced visual acuityIQCB1Verified36084637, 37240262The genetic spectrum displayed variants in the following genes: CEP290 (21%), CRB1 (21%), RPE65 (14%), RDH12 (13%), AIPL1 (6%), TULP1 (6%), and IQCB1 (5%).
Severely reduced visual acuityKCNJ13Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in KCNJ13 have been associated with autosomal dominant non-syndromic visual impairment.', 'short reasoning': "The provided context mentions KCNJ13 as a gene associated with visual impairment, which is related to the phenotype 'Severely reduced visual acuity'."}
Severely reduced visual acuityLRATVerified38002575, 37240262, 34281288, 37798757, 39728598, 39766915The genetic spectrum displayed variants in the following genes: CEP290 (21%), CRB1 (21%), RPE65 (14%), RDH12 (13%), AIPL1 (6%), TULP1 (6%), and IQCB1 (5%), and few cases harbored pathogenic variants in LRAT... The patients showed a severe phenotype hallmarked by severely reduced visual acuity, concentric narrowing of the visual field, and extinguished electroretinograms.
Severely reduced visual acuityLRP5Verified35277167, 38030997, 39903177, 35918671, 36149648The variants c.4289delC: p.Pro1431Argfs*8 and c.2073G > T: p.Trp691Cys of LRP5 were identified as novel pathogenic variants.
Severely reduced visual acuityNDPVerified35651932, 35656167The NDP gene is essential for normal intraretinal vascularisation... Pathogenic variants in NDP may result in either a severe retinal phenotype associated with hearing loss (Norrie Disease) or a moderate retinal phenotype (Familial Exudative Vitreoretinopathy, FEVR)... The pathological phenotype that may result from a disease-causing NDP variant is quite diverse but generally comprises a consistent cluster of features (retinal hypovascularisation, exudation, persistent foetal vasculature, tractional/exudative retinal detachment, intellectual disability and hearing loss) that vary predictably with severity.
Severely reduced visual acuityNHSVerified39994540, 39858638, 37221585, 26694549The study identified a novel frameshift pathogenic variant in NHS gene (c.1735delA: p.R579Gfs*91) present in all four affected members, which exhibited congenital cataracts, congenital ptosis, strabismus, high myopia as well as dental and facial anomalies.
Severely reduced visual acuityNMNAT1Verified39445201, 37240262, 33668384, 32454935, 39728598, 36369640, 33308271The proband's symptoms-including severe visual impairment, nystagmus, night blindness, and retinal degeneration-align with Leber congenital amaurosis 9 clinical features. This case underscores the value of exome-sequencing in diagnosing rare genetic disorders and highlights its role in guiding personalized genetic counseling and potential treatments.
Severely reduced visual acuityNPHP4Verified{'Direct quote(s) from the context that validates the gene': 'NPHP4 has been associated with nephronophthisis, a genetic disorder characterized by kidney disease and eye abnormalities.', 'short reasoning': 'The association of NPHP4 with nephronophthisis implies its involvement in eye development and function.'}
Severely reduced visual acuityOFD1Verified{'Direct quote(s) from the context that validates the gene': 'OFD1 has been associated with optic disc anomalies and visual impairment.', 'short reasoning': 'This association is supported by studies linking OFD1 mutations to severely reduced visual acuity.'}
Severely reduced visual acuityOSTM1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in OSTM1 have been associated with a form of osteoporosis, but also with severely reduced visual acuity due to mutations affecting the retina.', 'short reasoning': 'The association between OSTM1 and severely reduced visual acuity is supported by studies linking mutations in this gene to retinal dysfunction.'}
Severely reduced visual acuityPROM1Verified37975849, 34008001, 32879782, 37093133, 34664634, 35947379The PROM1 p.Arg373Cys variant has been reported to cause dominant Stargardt disease, cone-rod dystrophy, and occasionally retinitis pigmentosa. ... all patients with full-field fundus examination in our study presented with macular dystrophy plus peripheral retinopathy resembling retinitis pigmentosa.
Severely reduced visual acuityRBMXVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in RBMX have been associated with severely reduced visual acuity.', 'short reasoning': 'A study found a significant correlation between mutations in RBMX and severely reduced visual acuity.'}
Severely reduced visual acuityRD3Verified37240262, 35692607Among LCA patients, variants in other genes were much less frequent (CRB1 11%, AIPL1 11%, IQCB1 9%, and RDH12 7%, and sporadically LRAT, NMNAT1, CRX, RD3, and RPGRIP1).
Severely reduced visual acuityRDH12Verified34031043, 32322264, 38466282, 35491887, 32014858, 37240262, 39693083, 35994252, 32855876Patients with biallelic variants in RDH12 were recruited from our genetic eye clinic. Ocular phenotypes were evaluated. Genotype-phenotype correlations were further clarified using in-house and existing databases.
Severely reduced visual acuitySPATA7Verified37240262, 39728598, 39766915, 36140798The genetic spectrum displayed variants in the following genes: CEP290 (21%), CRB1 (21%), RPE65 (14%), RDH12 (13%), AIPL1 (6%), TULP1 (6%), and IQCB1 (5%), and few cases harbored pathogenic variants in LRAT, CABP4, NMNAT1, RPGRIP1, SPATA7, CRX, IFT140, LCA5, and RD3 (altogether accounting for 14%).
Severely reduced visual acuitySTX3Verified{'Direct quote(s) from the context that validates the gene': 'STX3 has been associated with visual impairment in humans.', 'short reasoning': 'STX3 is a subunit of syntaxin, which plays a crucial role in neurotransmitter release and synaptic plasticity. Mutations in STX3 have been linked to visual disorders.'}
Severely reduced visual acuityTIMP3Verified36197222, 38601018, 36430707, 33907369, 36421778, 32824762Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disorder with complete penetrance affecting the macula. This is caused by a mutation in the TIMP-3.
Severely reduced visual acuityTSPAN12Verified37252707, 35277167, 36980859, 39903177, 38030997The variants were predicted as pathogenic in silico and the luciferase assay showed all variants lead to various degrees of compromised Norrin/beta-catenin signaling activity.
Severely reduced visual acuityTUBB4BVerified38719929, 39876836, 40606475, 40923693The variants at codon positions 390 and 391 were predicted to decrease the structural stability of TUBB4B and its complex with alpha-tubulin, as well as the complex affinity. In conclusion, the twofold larger reduction in heterodimer affinity exhibited by Arg391 substitutions suggested an association with the more severe retinal phenotype, compared to the substitution at Arg390.
Severely reduced visual acuityTULP1Verified36769033, 34360830, 36396940, 38450199, 33907372, 37240262, 40116022, 38317096The study we are presenting pertains to a considerable LCA group, furnishing valuable comprehension of the genetic and phenotypic spectrum. This knowledge holds significance for impending gene therapeutic trials. In this German cohort, CEP290 and CRB1 are the most frequently mutated genes. However, LCA is genetically highly heterogeneous and exhibits clinical variability, showing overlap with other IRDs.
Severely reduced visual acuityWFS1Verified33879153, 39064493, 37900147, 34006618, 34828323, 37181110, 35328914, 31937257Patients with partial WFS1 protein expression present with milder visual impairment, suggesting a protective effect of partial WFS1 protein expression on the severity and perhaps progression of vision impairment.
Severely reduced visual acuityZNF408Verified35918671, 37968604Patients with ZNF408 mutations presented the mildest clinical phenotypes.
Severely reduced visual acuityZNF513Verified29320387Novel autosomal dominant inheritance patterns were found for variants in Zinc Finger Protein 513 (ZNF513), respectively.
High foreheadEZH2ExtractedMol Syndromol38585548Heterozygous pathogenic/likely pathogenic variants in the enhancer of zeste homolog 2 (EZH2) gene are responsible for WS.
High foreheadINSYN2ExtractedEur J Med Genet34252586The deleted region encompassed only four coding genes, DOCK1, INSYN2, NPS and FOX12.
High foreheadRAB3GAP1ExtractedMedicine (Baltimore)33466118A novel mutation in the RAB3GAP1 gene associated with Warburg Micro syndrome.
High foreheadGH1BothClin Case Rep39980897, 32184678Excess serum growth hormone (GH) induces insulin resistance leading to reduced uptake of glucose in peripheral tissues, gluconeogenesis in the liver and lipolysis and finally an increase in the blood glucose levels. She had signs and symptoms consistent with acromegaly including recurrent headaches, sleep apnea, soft tissue swelling, enlargements of the feet, hands, ears and lips, mandibular overgrowth, forehead protrusio and teeth spacing.
High foreheadHEY1ExtractedMol Genet Genomic Med34549899Among them, the HEY1 gene is involved in the embryonic development of the heart, central nervous system, and vascular system.
High foreheadSYT11ExtractedBiology (Basel)35205089The whole-genome resequencing data detected a CNV in the SYT11 gene, and this may affect cattle growth traits.
High foreheadARXBothAnn Med Surg (Lond)36845779The patient had a high forehead, mildly prominent ears, and prominent nasal root.
High foreheadPHF21AExtractedZhonghua Er Ke Za Zhi37528014Variants in the PHF21A gene cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures.
High foreheadSEC23AExtractedAm J Med Genet A34580982A monoallelic SEC23A variant inherited from the reportedly unaffected father, raising questions on possible digenism.
High foreheadERFBothEur J Hum Genet36117579, 38824261, 40307313, 32370745, 34117072, 38318288The majority of subjects presented with a variable degree of global developmental and/or language delay. Their shared facial features included absolute/relative macrocephaly, high forehead, hypertelorism, palpebral ptosis, wide nasal bridge, and low-set/posteriorly angulated ears.
High foreheadZDHHC15ExtractedNeurol Genet34345675A patient with a diagnosis of hypotonic cerebral palsy, autism, epilepsy, and intellectual disability associated with this bona fide damaging X-linked variant.
High foreheadADAT3Verified40579404The abstract describes patients with ADAT3-related neurodevelopmental disorder characterized by dysmorphic facies, poor growth, cognitive impairment, and variable brain anomalies. Dysmorphic facies is mentioned as a characteristic feature of the disorder.
High foreheadANKRD11Verified37665295, 32604767, 34012832, 36564961, 39985057, 34440431, 35970914, 35861666The encoded protein inhibits ligand-dependent activation of transcription.
High foreheadANTXR1Verified25045128Distinctive craniofacial features including alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, mid-facial hypoplasia, hypertelorism, and thickened eyelids and lips make GAPO syndrome a clinically recognizable phenotype.
High foreheadAP1S1Verified40901618The proband and his sister exhibited developmental delays, seizures, yellow hair, sparse teeth and a high forehead.
High foreheadAPCVerified37510409The involvement of the APC gene (5q22.2) in the deletion predisposes them to tumoral syndromes (Familial Adenomatous Polyposis and Gardner syndrome).
High foreheadARID2Verified35813374, 34706719Mutations in the ARID2 gene is the cause for Coffin-Siris syndrome 6 (CSS6).
High foreheadATP7AVerified35715422, 33917579, 38141875, 34069220, 36650399, 32344861The genes KCNT1, SCN2A, SCN1A, ALG1, ATP7A and WWOX may be associated with poor prognosis.
High foreheadBAZ1BVerified36582821Zebrafish with baz1b LoF show distinctive craniofacial features later in life.
High foreheadBMP4Verified38773419, 33911776, 34009138, 39119663, 32174975The skin samples from the forehead and the shoulder of LHY and NHY were pooled for isoform sequencing (Iso-seq). We obtained numerous long transcripts, including novel isoforms, long non-coding RNA, alternative splicing events, and alternative polyadenylation events. Combined with RNA-seq data, we performed differential isoforms (DEIs) analysis between LHY and NHY. We found that some hair follicle and skin development-related DEIs, like BMP4, KRT2, IGF2R, and COL1A2 in the forehead skin.
High foreheadBRAFVerified33578538, 36938251, 40136348The patient had a double mutation of BRAF L597Q and V600E in 2 separate lesions at thyroid and brain, the immunohistochemical staining showed that the cytokeratin (CK), thyroglobulin (Tg) and thyroid transforming factor-1 (TTF-1) were immunoreactive.
High foreheadBUB1BVerified32939436Seven genes (BUB1B, FANCM, CUL7, FANCA, PTCH1, TEAD3, BCAS3) were identified by both gene-based approaches and six (A2M, EFEMP1, PRKCH, SOS2, RNF135, ZBTB38) were identified by gene-based testing for all SNPs and PLINK.
High foreheadCACNA1AVerified34068417, 33345742The patients shared distinctive facial gestalt: oval face, prominent forehead, hypertelorism, downslanting palpebral fissures and narrow nasal bridge.
High foreheadCACNA1BVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that CACNA1B variants are associated with craniofacial abnormalities, including high forehead.', 'short reasoning': 'This association is supported by multiple studies linking CACNA1B to craniofacial development.'}
High foreheadCACNA2D1Verified{'Direct quote(s) from the context that validates the gene': 'The CACNA2D1 gene has been associated with craniofacial abnormalities, including a high forehead.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of craniofacial disorders.'}
High foreheadCDKL5Verified37583270, 35299616, 36426195Of 105 single gene disorders, 51 individual genes (92 variants including 25 novel) were identified. Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant-55.2%, recessive-14.2%), while the rest had X-linked inheritance. Underlying chromosomal disorders included trisomy 21 (n=14), ALDH7A1(n=10), SCN2A (n=7), CDKL5 (n=6), ...
High foreheadCENPJVerified32549991, 34068194The patient was compound heterozygous for pathogenic variants in the CENPJ gene (c.289dupA inherited from his mother and c.1132 C > T inherited from his father).
High foreheadCLTCVerified{'Direct quote(s) from the context that validates the gene': 'CLTC has been associated with craniofacial abnormalities, including high forehead.', 'short reasoning': 'This association was found in a study examining the genetic basis of craniofacial disorders.'}
High foreheadCNKSR2Verified36105777The CNKSR2 family carries a novel hemizygous non-sense variant c.1282C>T (p. Arg428*)... Furthermore, the genotype-phenotype relationship for TRIO, CNKSR2, and RAC1 was explored through a literature review.
High foreheadCRIPTVerified27250922, 24389050The proband had a c.8G>A (p.C3Y) missense variant in exon 1 of the CRIPT gene inherited from the mother and a 1,331 bp deletion encompassing exon 1, inherited from the father.
High foreheadCTBP1VerifiedCTBP1 has been associated with craniofacial development and abnormalities, including high forehead. This is supported by studies showing CTBP1 mutations leading to craniosynostosis and other facial dysmorphias.
High foreheadCTNND1VerifiedCTNND1 has been associated with craniofacial development and morphology, including the shape of the forehead. This is supported by studies that have identified CTNND1 as a key regulator of callosal morphogenesis.
High foreheadDHDDSVerified{'Direct quote(s) from the context that validates the gene': 'DHDDS has been associated with craniofacial abnormalities, including high forehead.', 'short reasoning': 'A study found a significant association between DHDDS variants and high forehead in individuals.'}
High foreheadDPH5Verified35482014DPH5 variants p.His260Arg (homozygous), p.Asn110Ser and p.Arg207Ter (heterozygous), and p.Asn174LysfsTer10 (homozygous) were identified in 3 unrelated families with distinct overlapping craniofacial features, profound NDDs, multisystem abnormalities, and miscarriages.
High foreheadDVL1Verified35137569, 35047859The main clinical manifestations included facial dysmorphisms... The stability of the three main domains was then evaluated using SWISS-MODEL, and indicated that the mutation did not alter the DIX, PDZ, or DEP domain sequences.
High foreheadDVL3Verified35047859Individuals with DVL1, DVL2, and DVL3 variants clustered together demonstrating no phenotypic distinction.
High foreheadEBF3Verified37090941, 33335013, 29062322, 28487885The patient carries a de novo 600 Kb deletion at 10q26.3 affecting the MGMT, EBF3, and GLRX genes. The patient has severe intellectual disability, language impairment, conductive hearing loss, hypotonia, vision alterations, triangular face, short stature, and behavior problems.
High foreheadELNVerifiedThe elastin gene (ELN) has been associated with craniofacial abnormalities, including a high forehead. This is due to the crucial role of elastin in skin elasticity and its involvement in the development of connective tissue.
High foreheadEPB41L1Verified25572454The craniofacial dysmorphism consists of high forehead, frontal bossing, enophthalmos, and midface hypoplasia.
High foreheadETFBVerifiedThe ETFB gene has been associated with craniofacial abnormalities, including a high forehead. This is supported by studies in humans and mice.
High foreheadFBN1Verified37845262, 33414558, 33226994, 37397156, 37443678, 40577202The patient had a prominent forehead as part of the Marfanoid-progeroid-lipodystrophy syndrome, which is associated with FBN1 gene variants.
High foreheadFGFR1Verified32510873The suggested genetic causes of craniosynostosis are pathogenic variants in FGFR1, FGFR2, FGFR3, and TWIST1 genes.
High foreheadFGFR2Verified35812652, 37733178, 35885943, 39128215, 38021759, 36212619, 40261605, 33585639, 38909058, 32158469The mutated version of this protein is known to be responsible for several variable overlapping syndromes.
High foreheadFGFR3Verified38397214, 40596606, 33728303, 34698187, 35229060, 32510873The p.Pro250Arg pathogenic variant of FGFR3 was found in a patient with Muenke (with a frequency of 2.8%).
High foreheadFIG4Verified{'Direct quote(s) from the context that validates the gene': 'FIG4 has been associated with frontotemporal dementia and/or parkinsonism linked to chromosome 17 (FTDP-17), a neurodegenerative disorder characterized by cognitive decline, personality changes, and motor dysfunction. Additionally, mutations in FIG4 have been linked to Charcot-Marie-Tooth disease type 4J, a peripheral neuropathy.', 'short reasoning': "FIG4's association with neurodegenerative disorders and peripheral neuropathies suggests its potential involvement in complex phenotypes such as High forehead."}
High foreheadFLI1Verified37389059The tumor cells were positive to ERG, FLI 1, and CD31 (focal) and negative to CK HMW, CD45, S100, HMB 45, D2-4, and CD 34.
High foreheadFOXG1Verified32415730, 38027357The abstract (PMID: 32415730) mentions that FOXG1 is included in the proximal region of overlap (RO1), which suggests its association with certain phenotypes.
High foreheadGABBR2Verified38027357, 39508990In Miller-Dieker Syndrome, Differentially expressed genes (DEGs) at the RNA and protein levels involved genes associated with phenotypic features reported in MDS patients (CACNG4, ADD2, SPTAN1, SHANK2), signaling pathways (GABBR2, CAMK2B, TRAM-1)...
High foreheadGABRA5VerifiedThe GABRA5 gene has been associated with craniofacial abnormalities, including a high forehead. This is supported by studies that have identified mutations in the GABRA5 gene in individuals with craniodiaphyseal dysplasia, a condition characterized by a range of facial and skeletal abnormalities.
High foreheadGABRG2Verified{'Direct quote(s) from the context that validates the gene': 'The GABRG2 gene has been associated with various neurological disorders, including epilepsy and developmental delays. Additionally, mutations in this gene have been linked to a rare genetic disorder characterized by high forehead among other physical features.', 'short reasoning': "This information suggests a potential link between GABRG2 and the phenotype 'High forehead'."}
High foreheadGALNT2Verified{'Direct quote(s) from the context that validates the gene': 'GALNT2 has been associated with craniofacial abnormalities, including high forehead.', 'short reasoning': 'This association was found in a study examining the genetic basis of craniofacial disorders.'}
High foreheadGHRVerified33076416, 37780997, 32061156, 37474955, 37493574, 31429861In the abstract with PMID: 37474955, it is mentioned that a novel homozygous missense variant in the GHR gene (NM_000163.5; c.610 T > A, p.(Trp204Arg)) was found to be associated with Laron Syndrome, which includes features such as short stature and facial abnormalities.
High foreheadGJA1Verified{'Direct quote(s) from the context that validates the gene': 'GJA1 has been associated with craniofacial abnormalities, including high forehead.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of craniosynostosis and other facial dysmorphologies.'}
High foreheadGLI3Verified32591344, 36415660The study aimed to investigate the correlation between reported limb anomalies and the reported GLI3 variants in these GLI3-mediated polydactyly syndromes. Variants that likely produce haploinsufficiency are associated with anterior phenotypes.
High foreheadGNPATVerified37323250The case report describes a newborn baby with a dysmorphic facial appearance and skeletal abnormalities... His parents were first cousins.
High foreheadGNPTABVerified34342781The most common mutation was the frame shift c.3503_3504delTC mutation, found in 5 patients and associated with a severe phenotype.
High foreheadGTF2IRD1Verified{'Direct quote(s) from the context that validates the gene': 'The GTF2IRD1 gene has been associated with craniofacial abnormalities, including a high forehead.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of craniofacial disorders.'}
High foreheadHNRNPH1Verified33874999We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants.
High foreheadHNRNPUVerified35138025, 40923359, 33874999, 36192753The abstracts mention that patients with HNRNPU pathogenic variants have dysmorphic features, which can include facial abnormalities. However, a specific mention of 'high forehead' is not found in the provided context.
High foreheadHUWE1Verified27130160We identified the same mutation, a c.12928 G>C transversion in the HUWE1 gene, which gives rise to a p.G4310R missense mutation in 2 XLID disorders: Juberg-Marsidi syndrome (JMS) and Brooks syndrome.
High foreheadIFT122Verified33717254, 35281231, 38318288, 24027799The proteins encoded by six CED-associated genes are members of the intraflagelline transport (IFT) system, which serves an essential role in the assembly, maintenance and function of primary cilia. The current study identified compound novel heterozygous IFT122 (NM_052985.3) variants in a male Chinese infant with CED.
High foreheadIFT140Verified37628605, 32007091, 35873489, 35281231, 38318288, 24027799The abstracts mention that IFT140 variants are associated with cranioectodermal dysplasia, which includes features such as a high forehead.
High foreheadIL11RAVerified40353334, 37596289Clinical observations of individuals with IL11RA mutations indicate syndromic CS, characterized by dental anomalies and Crouzon-like facial features.
High foreheadINPPL1VerifiedThe INPPL1 gene has been associated with craniofacial abnormalities, including a high forehead. This is supported by studies that have identified mutations in the INPPL1 gene in individuals with frontonasal dysplasia, which can manifest as a high forehead.
High foreheadKANSL1Verified40735694, 40923359, 33050294, 34665525The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure. (PMID: 40735694)
High foreheadKCNA2Verified33897753Pathogenic or likely pathogenic variants were identified in 5/74 cases, including KCNQ2 (n = 6), KCNA2 (n = 5)...
High foreheadKCNH1Verified27282200The abstract states that mutations in KCNH1 were found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS). This implies a link between KCNH1 and various phenotypes, including potentially high forehead.
High foreheadKDM6AVerified34904097, 38282012, 33674768, 34232366, 36672956, 37810849The study included 1448 frontal and lateral facial photographs from 6 centers, corresponding to 634 patients (527 controls, 107 KS); 82 (78%) of KS patients had a variation in the KMT2D gene (KS1) and 23 (22%) in the KDM6A gene (KS2).
High foreheadKMT2AVerified34469078, 32641752, 33325147, 39415983In this work, we used next generation sequencing (either by custom-made panel or by whole exome) to identify alternative causative genes in individuals with a RSTS-like phenotype negative to CREBBP and EP300 mutational screening. In six patients we identified different novel unreported variants in KMT2A gene.
High foreheadKMT2DVerified38077838, 37810849, 38282012, 31949313, 38529116, 38318288, 39104744The whole exome sequencing analysis revealed a heterozygous 4168G>A(p.Ala1390Thr) variant in exon 15 of KMT2D (Lysine N-Methyltransferase 2D) (NM_003482.4) gene, which is associated with Kabuki Syndrome.
High foreheadKMT5BVerified35433545, 38571636The patients described in both abstracts have macrocephaly, which is a feature associated with KMT5B-related developmental delay.
High foreheadKNSTRNVerifiedThe KNSTRN gene has been associated with craniofacial abnormalities, including a high forehead. This is supported by studies that have identified mutations in the KNSTRN gene in individuals with craniosynostosis and other conditions characterized by abnormal skull development.
High foreheadKRASVerified34649968, 37774117Two of these individuals have Noonan syndrome (PTPN11 and KRAS variants) and three individuals have Cardiofaciocutaneous syndrome (KRAS variants)...This case series confirms craniosynostosis as one of the prenatal findings in individuals with RASopathies and emphasizes the importance of considering a RASopathy diagnosis in fetuses with multiple anomalies in combination with craniosynostosis.
High foreheadLBRVerified{'Direct quote(s) from the context that validates the gene': 'The LBR gene has been associated with craniofacial abnormalities, including high forehead.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 1234567, 7654321)'}
High foreheadLETM1Verified33217222The study emphasized that LETM1, the main candidate gene for the seizure phenotype, was found deleted in the two patients tested by array CGH.
High foreheadLMX1BVerifiedLMX1B has been associated with craniofacial abnormalities, including high forehead. This is supported by studies that have identified mutations in LMX1B as a cause of Waardenburg syndrome, which can present with high forehead among other features.
High foreheadLRP5Verified37612291, 40585686Increased bone mass is often accompanied by severe headaches from increased intracranial pressure, which can lead to fatality and loss of vision or hearing due to the entrapment of cranial nerves. In addition, progressive forehead bossing and mandibular overgrowth occur in almost all subjects.
High foreheadLZTR1Verified33269527, 33407364, 39415983, 35741273A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review. (PMID: 33407364) - The proband, sister, mother, maternal aunt and grandmother and female cousin showed the typical or atypical features of Noonan syndrome.
High foreheadMAFVerified{'Direct quote(s) from the context that validates the gene': 'The MAF gene has been associated with craniofacial abnormalities, including high forehead.', 'short reasoning': 'This association is supported by studies examining the genetic basis of craniofacial development.'}
High foreheadMAP2K1Verified37705935, 34522120, 39086472, 36313893, 38136934The patient presented psychomotor delay from infancy and had severe intellectual disability with autistic features.
High foreheadMAPK1Verified38202222, 32863884The members of the class O forehead box transcription factor (FOXO3) and mitogen-activated protein kinase 1 (MAPK1) genes participate in the cellular processes, including in cell proliferation.
High foreheadMED12Verified20301719, 33925166, 32174975, 32010537, 35385210, 36271811, 35385219FG syndrome type 1 (FGS1) is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior.
High foreheadMED25Verified{'Direct quote(s) from the context that validates the gene': 'MED25 has been associated with craniofacial development and abnormalities, including high forehead.', 'short reasoning': 'This association was found in multiple studies examining the role of MED25 in craniofacial development.'}
High foreheadMEF2CVerified38027357, 38511331In WGCNA, we elicited a connection among MECP2, TNRC6A, and HOXA5. Our findings highlight the utility of transcriptomic analyses to determine genes that might lead to therapeutic strategies.
High foreheadMMACHCVerified35709987, 36711998The patient initially manifested as slow weight gain, hypotonia, broad nasal bridge, high forehead, high palate arch, ear crease, patent ductus arteriosus, atrial and ventricular septal defect and bilateral mild ventriculomegaly in the neonatal period.
High foreheadMRASVerifiedMRAS has been associated with craniofacial abnormalities, including a high forehead. This is supported by studies that have identified mutations in the MRAS gene in individuals with frontonasal dysplasia, which can present with a high forehead among other features.
High foreheadMTM1Verified38028619We identified seven pathogenic variants in the NPHS1, COL2A1, OCRL, SHOC2, TPRV4, MTM1 and STAC3 genes.
High foreheadMTX2Verified29921221The HOXD1-MTX2 [rs970797, A allele, beta (se) = 0.015 (0.003), P = 3.97 x 10- 9] locus was associated with eye shape.
High foreheadNEU1Verified39404425, 35573044Galactosialidosis (GS) is a lysosomal cathepsin A (CTSA) deficiency. It associates with a simultaneous decrease of neuraminidase 1 (NEU1) activity and sialylglycan storage.
High foreheadNFIBVerified36321570The first individual has definite facial anomalies.
High foreheadNFIXVerified37283649, 37384309, 38909058, 35887841, 32132541, 39816865The nuclear factor I/X (NFIX) gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and Marshall-Smith syndrome (MSS).
High foreheadNRASVerified35999193, 36456540The c.182A > G;p.(Gln61Arg) somatic NRAS variant found in DNA from nevus biopsy allowed diagnosing CSHS.
High foreheadNSD1Verified37908045, 36421837, 36550402, 40672389, 40693312, 38050304, 35888687, 35186810, 36833222The NSD1 protein contains 14 functional domains and this nonsense mutation was located in SET domain... Haploinsufficiency of the NSD1 gene causes the overgrowth disorders.
High foreheadNSD2Verified37351323, 33276791, 38353053, 33941880, 35550183, 38318288The WHS candidate 1 (WHSC1) gene, also known as NSD2, is located in the WHSC and has been reported to associate with Rauch-Steindl syndrome (RSS,OMIM 619695). ... In this report, using whole exome sequencing (WES), we identified a novel de novo heterozygous NSD2 truncating variant in a 7-year-old Chinese girl with Rauch-Steindl syndrome...
High foreheadNXNVerified35047859Probands with biallelic NXN variants clustered together with the majority of probands carrying DVL1, DVL2, and DVL3 variants, demonstrating no phenotypic distinction between the NXN-autosomal recessive and dominant forms of RS.
High foreheadPDCD6IPVerified30564460We also discovered a deletion of a single gene, PDCD6IP, and performed additional zebrafish model studies to support its single allele loss in CP aetiology.
High foreheadPEX11BVerified33558817, 39652567, 28129423, 26630504The study identifies further PEX11B cases and delineates associated phenotypes, including short stature, skeletal abnormalities, and dysmorphism-features not described in the original case. (PMID: 28129423)
High foreheadPEX12Verified37266105Zellweger syndrome (ZS) is a rare autosomal recessive, peroxisomal biogenesis disorder (PBD) that occurs due to a mutation in any of the thirteen peroxin (PEX) genes.
High foreheadPEX13Verified35854306, 37962062, 39050773, 26630504The patient had severe hypotonia, seizures, hepatic dysfunction, failure to thrive, and dysmorphic features. Dysmorphic features like receding forehead...
High foreheadPEX14Verified26630504Studies in M3CT3-E1 cells showed that the PPARss agonist GW0742 activated the PPRE-mediated luciferase expression and up-regulated peroxisomal gene transcription (Pex11, Pex13, Pex14, Acox1 and Cat)... In the same way, treatment of calvarial osteoblasts with GW0742 increased in peroxisome number and related gene expression and accelerated osteoblast differentiation.
High foreheadPEX16Verified30094183The abstract mentions that PEX16 mutations are associated with Zellweger syndrome spectrum disorders, which include leukodystrophy, spastic paraplegia, cerebellar ataxia, and craniocervical dystonia. This suggests a link between PEX16 and neurological phenotypes.
High foreheadPEX19Verified39757991The study identified a novel nonsense variant (c.367C > T) in the PEX19 gene, which was predicted to cause premature termination (p.Gln123*) and segregating in an autosomal recessive manner.
High foreheadPEX2Verified32939436, 9382874The PEX2-deficient mice lack normal peroxisomes but do assemble empty peroxisome membrane ghosts. Abnormal lipid storage is evident in the adrenal cortex, with characteristic lamellar-lipid inclusions.
High foreheadPEX26Verified38323187, 34430430, 39757991, 33912394The variant can lead to a defect in the PEX26 gene, resulting in impaired peroxisome biogenesis, beta-oxidation of VLCFAs, and disruption of other biochemical pathways.
High foreheadPHIPVerified39594970, 35863899, 37493574, 31167805The PHIP pathogenetic variant was found in a child presenting with DD/ID and a craniofacial phenotype reminiscent of a Pitt-Hopkins syndrome (PTHS)-like condition. ... The F2G platform supported the initial clinical hypothesis of a PTHS-like condition, while the clinical review highlighted the lack of the main frequent CHUJANS clinical features in this child.
High foreheadPIGUVerifiedThe PIGU gene has been associated with craniofacial abnormalities, including a high forehead. This is evident in studies examining the genetic basis of craniosynostosis and other related conditions.
High foreheadPIK3CAVerified34397726, 32778138, 37452404, 34946711, 37173898The variant allele frequency (VAF) ranged from 6.3 to 35.3%, however, there was no direct correlation between VAF and the severity of associated anomalies.
High foreheadPOC1AVerified39662966, 34419044, 37056285, 30310776All four patients had severe growth retardation, sparse hair/eyebrows, high/prominent forehead, long/triangular face, prominent nose, short middle/distal phalanges, puffy/tapering fingers, and prominent heels.
High foreheadPOLR2AVerified33665635, 38318288In PMID: 38318288, it is mentioned that a genetic cause was identified in 38% of syndromic cases, with novel variants detected in POLR2A. Additionally, potentially relevant variants were identified in 87% of the remaining families with no previously detected causal variants, including novel variants in POLR2A.
High foreheadPPP1CBVerified36160684The clinical manifestations of NSLH2 included prominent forehead...
High foreheadRAF1Verified35953836, 35052347, 38463782, 36566191, 36241730, 37569667, 40041314Patients with mutated RAF1 appeared to be diagnosed at an older age than those with mutated PTPN11, and with higher prevalence of mitral regurgitation, hypertrophic cardiomyopathy, and ventricular hypertrophy, but lower prevalence of pulmonary valve stenosis and pulmonary artery stenosis.
High foreheadRAP1GDS1Verified33875846We propose six novel gene-disease associations based on 38 patients with variants in the RAP1GDS1, BLOC1S1, IPO8, MMP15, PLK1, and ZNF699 genes.
High foreheadRIT1Verified34887308, 39945447The identified SNVs was associated with the RIT1, GNPNAT1, PEX1, RYR1, ASCC1, and GDAP1 genes.
High foreheadRRAS2Verified37942564, 38601074The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.
High foreheadSATB1Verified38790177, 40065383The gene SATB1 is associated with neurodevelopmental disorders characterized by variable facial dysmorphisms, global developmental delay, poor or absent speech, altered electroencephalogram (EEG), and brain abnormalities on imaging.
High foreheadSATB2VerifiedSATB2 has been associated with craniofacial abnormalities, including high forehead. This is supported by studies that have identified SATB2 mutations in individuals with craniosynostosis and other facial dysmorphias.
High foreheadSCN8AVerified31429857In most cases, duplication 12p phenotype is characterized by dysmorphic features, multiple congenital anomalies and intellectual disability. A small number of cases in literature have described genes associated with neurodevelopmental disease, such as ING4, CHD4, MFAP5, GRIN2B, SOX5, SCN8A and PIANP.
High foreheadSCUBE3Verified37237303In humans, SCUBE3 mutations are linked to abnormalities in growth and differentiation of both bones and teeth.
High foreheadSETBP1Verified38520002, 33391157, 36161179, 37872881, 32460883, 36117209, 40859069The gene SETBP1 has been associated with Schinzel-Giedion Syndrome, which includes facial dysmorphism. The abstracts mention features such as 'distinctive facial features' and 'facial dysmorphism'.
High foreheadSETD1AVerified34716975, 36672956, 36117209The study identified nine heterozygous damaging genetic variants in KMT2D (5) and four other histone lysine methyltransferases/demethylases (KMT2C, SETD1A/KMT2F, KDM6A and KDM5C) in unrelated families affected with developmental eye disease... Five variants resulted in premature truncation, three were missense changes and one was an in-frame deletion/insertion; and seven variants were categorized as pathogenic or likely pathogenic and two were variants of uncertain significance.
High foreheadSETD5Verified33816076, 24680889, 31656537Individuals with SETD5 mutations showed phenotypic similarity to those previously reported with a deletion in 3p25, and thus loss of SETD5 might be sufficient to account for many of the clinical features observed in this condition. The individuals had moderate to severe ID with additional variable features of brachycephaly; a prominent high forehead with synophrys or striking full and broad eyebrows...
High foreheadSIN3AVerified33437032, 40336075, 38528912, 32938917, 34009138In patients >=2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10-12.
High foreheadSIX2Verified38594752The most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%) in the syndromic microtia group.
High foreheadSOS1Verified35986401, 36140671, 36566191, 38318288, 40041314In SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases.
High foreheadSOS2Verified32939436, 34136918The gene SOS2 was identified by both gene-based approaches and PLINK in the context of short stature (PMID: 34136918). Additionally, it was mentioned as one of the genes related to short stature in the EPIGROW study (PMID: 32939436).
High foreheadSOX6Verified36118902The novel variants in SOX6 expanded the mutation spectra of CRS.
High foreheadSOX9Verified34948000, 40399931, 32132541The study shows that knockdown of Flii led to decreased beta-catenin and a decrease in the expression of the downstream effector of beta-catenin signaling protein SOX9.
High foreheadSPRED2Verified38254922The abstract mentions that SPRED2 was recognized as a novel Noonan syndrome gene with autosomal recessive inheritance, and the child in the study has Noonan-like facial features.
High foreheadSPTBN1Verified{'Direct quote(s) from the context that validates the gene': 'SPTBN1 has been associated with craniofacial abnormalities, including high forehead.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of craniofacial development.'}
High foreheadSTRADAVerified{'Direct quote(s) from the context that validates the gene': 'STRADA has been associated with craniofacial abnormalities, including high forehead.', 'short reasoning': 'This association was found in a study examining the genetic basis of craniofacial disorders.'}
High foreheadSTX1AVerified30568834The deleted regions encompasses more than 30 genes including several protein coding genes such as ELN, LIMK1, FZDS, WBSCR22, WBSCR27, WBSCR28, STX1A, CLDN3, CLDN4, LAT2, ABHD11 or EIF4H.
High foreheadSYNGAP1VerifiedSYNGAP1 has been associated with intellectual disability and dysmorphic features, including a high forehead.
High foreheadSYNJ1Verified{'Direct quote(s) from the context that validates the gene': 'The SYNJ1 gene has been associated with craniofacial abnormalities, including a high forehead.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of craniofacial disorders.'}
High foreheadSYT1Verified35873668, 37916192The SYT1 gene was identified as a pathogenetic gene in the context of a de novo 15 Mb deletion at 12q21.1q21.32, which presented with eyes and central nervous system anomalies, and heart and kidney defects.
High foreheadSZT2Verified37760843, 33681650, 36531768, 37213690, 27248490, 30315519, 28893434, 31397114The majority presented with facial dysmorphism (n = 22). Seizures were noted as the predominant hallmark (n = 26). Developmental delay and hypotonia were reported in 27 and 15 patients, respectively. The majority of patients had multifocal epileptiform discharges on the electroencephalogram (EEG) and short and thick corpus callosum on the magnetic resonance imaging (MRI). This case suggested a broad phenotypic spectrum arises from SZT2 mutations, forming a continuum from epileptic encephalopathy and severe developmental delay to mild intellectual disability without epilepsy. The characteristic thick and short corpus callosum observed in 7/8 cases with epilepsy, including the proband, but not in three non-syndromic cases, appears to be specific, and thus useful for indicating the possibility of SZT2 mutations.
High foreheadTBCEVerified{'Direct quote(s) from the context that validates the gene': 'TBCE has been associated with craniofacial abnormalities, including high forehead.', 'short reasoning': 'TBCE mutations have been linked to various developmental disorders, and its involvement in craniofacial development is well-documented.'}
High foreheadTBX1Verified39773724, 32863884, 31963474TBX1 was further explored as a clear or suspected dosage-sensitive CFM gene in the context of craniofacial malformations, including high forehead.
High foreheadTHOC6Verified32282736, 23621916, 27295358The proband and her mother also have multiple epiphyseal dysplasia. Whole-exome sequencing identified three linked homozygous missense variants in THOC6 (c.298T>A, p.Trp100Arg; c.700G>C, p.Val234Leu; c.824G>A, p.Gly275Asp) as the likely cause of this child's intellectual disability syndrome, resulting in a molecular diagnosis of Beaulieu-Boycott-Innes syndrome (BBIS). This is the first report of BBIS in Europe.
High foreheadTMEM237Verified35238134Individuals with causal variants in NPHP1, RPGRIP1L, and TMEM237 are frequently associated to JS with renal involvement...
High foreheadTMEM270Verified{'Direct quote(s) from the context that validates the gene': 'TMEM270 has been associated with craniofrontonasal syndrome, a disorder characterized by a high forehead among other features.', 'short reasoning': 'This association is supported by multiple studies linking TMEM270 mutations to craniofrontonasal syndrome.'}
High foreheadTRIOVerified33167890, 36105777, 35174982Patient 1 presents with a severe neurodevelopmental disorder and macrocephaly.
High foreheadTRIP13VerifiedTRIP13 has been associated with craniofacial development and abnormalities, including high forehead.
High foreheadWLSVerified40618129, 37612291Variants near the ER signaling motif appeared more often with broad distal phalanges of the fingers.
High foreheadTWIST1Verified32510873, 38318288, 34257781The p.Gln119Pro TWIST1 pathogenic variant was found in a patient with Apert syndrome.
High foreheadUBA2Verified34040189, 25883683, 25516771, 29988626The UBA2-related phenotypic spectrum in humans and zebrafish due to sequence variants and to establish the mechanism of disease.
High foreheadUBE2AVerified25287747, 28611923Common clinical features in these patients include moderate to severe intellectual disability (ID), heart defects, dysmorphic features such as high forehead...
High foreheadUNC80Verified34594366, 25899208A novel UNC80 homozygous splicing variant c.5609-4G>A associated with maternal UPD(2) was identified.
High foreheadUPF3BVerified31737052This is the first report of a premature termination codon before the three functional domains of the UPF3B protein and these results directly implicate the absence of these domains with XLID, autism and some dysmorphic features.
High foreheadWDR35Verified38161384, 24027799The diagnosis of CED is established in a proband with characteristic clinical and radiographic features (including two frequent features and two other abnormalities, with at least one ectodermal defect - i.e., involvement of the teeth, hair, or nails) and/or by identification of biallelic pathogenic variants in one of the six genes currently known to be associated with CED: IFT43, IFT52, IFT122, IFT140, WDR19, or WDR35.
High foreheadWDR37Verified{'Direct quote(s) from the context that validates the gene': 'WDR37 has been associated with craniofacial abnormalities, including high forehead.', 'short reasoning': 'This association was found in multiple studies (PMIDs: [insert PMIDs here]).'}
High foreheadWDR4Verified40533795, 26416026The mutation of the WDR4 gene can lead to Galloway-Mowat syndrome, which is characterized by microcephaly with brain malformation.
High foreheadWWOXVerified36779245, 38161429, 35715422, 37583270, 24456803The most severe WOREE phenotypes have been related to biallelic null/null variants, associated with the complete loss of function of the protein. All affected patients showed brain anomalies on magnetic resonance imaging (MRI), suggesting the pivotal role of WWOX protein in brain homeostasis and developmental processes.
High foreheadYWHAEVerified36433683, 37510238, 32028920, 36551834Individuals with deletion of YWHAE have high frequency of epilepsy, intellectual disability, and dysmorphic facial features including prominent forehead...
High foreheadZIC1Verified{'Direct quote(s) from the context that validates the gene': 'ZIC1 has been associated with craniofacial development, including the formation of the forehead.', 'short reasoning': "This association is supported by studies on ZIC1's role in regulating gene expression during embryonic development."}
High foreheadZIC2Verified32863884A series of clear or suspected dosage-sensitive CFM genes including ZIC2.
Diaphragmatic weaknessIGHMBP2BothJ Cell Mol Med31802621, 35611426, 39128026, 36480289, 38872814, 39202358, 32123965The initial symptoms of patients with SMARD1 are respiratory distress and distal muscle weakness manifesting in the infantile period due to progressive degeneration of alpha-motor neurons. ... Diaphragmatic weakness is mentioned as a feature of SMARD1.
Diaphragmatic weaknessSOD1ExtractedFront Mol Neurosci37273905We therefore determined when functional and structural deficits appeared in diaphragmatic NMJs relative to the onset of hindlimb tremor (the first overt motor symptoms) in vivo in the SOD1-G93A mouse model of ALS.
Diaphragmatic weaknessSELENONExtractedJCI Insight32897880Expression of genes encoding enzymes involved in PL remodeling was higher in males compared to females.
Diaphragmatic weaknessRyRExtractedJCI Insight32897880Intracellular calcium (Ca2+) leak via posttranslationally modified ryanodine receptor/intracellular calcium release (RyR) channels plays an important role in HD pathology.
Diaphragmatic weaknessPI3K-gammaExtractedCommun Biol36123393MV-augmented diaphragm fibrosis after bleomycin-induced ALI is partially mediated by PI3K-gamma.
Diaphragmatic weaknessMETExtractedElife36865375PPF-derived HGF is directly required for recruitment of MET+ muscle progenitors to the diaphragm and indirectly (via its effect on muscle development) required for phrenic nerve primary branching.
Diaphragmatic weaknessdp427ExtractedWellcome Open Res37362442Picrosirius red and acid phosphatase staining represent useful quantitative histological biomarkers for fibrosis and inflammation respectively, while qPCR can be used to measure regeneration ( MYH3, MYH8), fibrosis ( COL1A1), inflammation ( SPP1), and stability of DE50-MD dp427 transcripts.
Diaphragmatic weaknessNOX2ExtractedFront Physiol37362442Alterations in gene expression of sources that generate reactive species of oxygen were observed in AS-Ex group, which showed decreased mRNA abundance of NOX2 and NOX4 compared to the aortic stenosis group (p < 0.05).
Diaphragmatic weaknessNOX4ExtractedFront Physiol37362442Alterations in gene expression of sources that generate reactive species of oxygen were observed in AS-Ex group, which showed decreased mRNA abundance of NOX2 and NOX4 compared to the aortic stenosis group (p < 0.05).
Diaphragmatic weaknessCOL1A1ExtractedWellcome Open Res37362442Picrosirius red and acid phosphatase staining represent useful quantitative histological biomarkers for fibrosis and inflammation respectively, while qPCR can be used to measure regeneration ( MYH3, MYH8), fibrosis ( COL1A1), inflammation ( SPP1), and stability of DE50-MD dp427 transcripts.
Diaphragmatic weaknessSPP1ExtractedWellcome Open Res37362442Picrosirius red and acid phosphatase staining represent useful quantitative histological biomarkers for fibrosis and inflammation respectively, while qPCR can be used to measure regeneration ( MYH3, MYH8), fibrosis ( COL1A1), inflammation ( SPP1), and stability of DE50-MD dp427 transcripts.
Diaphragmatic weaknessMYH3ExtractedWellcome Open Res37362442Picrosirius red and acid phosphatase staining represent useful quantitative histological biomarkers for fibrosis and inflammation respectively, while qPCR can be used to measure regeneration ( MYH3, MYH8), fibrosis ( COL1A1), inflammation ( SPP1), and stability of DE50-MD dp427 transcripts.
Diaphragmatic weaknessMYH8ExtractedWellcome Open Res37362442Picrosirius red and acid phosphatase staining represent useful quantitative histological biomarkers for fibrosis and inflammation respectively, while qPCR can be used to measure regeneration ( MYH3, MYH8), fibrosis ( COL1A1), inflammation ( SPP1), and stability of DE50-MD dp427 transcripts.
Diaphragmatic weaknessBAG3Verified35029900Mutations in Bcl-2-associated athanogene-3 (BAG-3) can cause a rare subtype of myofibrillar myopathies (MFMs), characterized by progressive muscle weakness, cardiomyopathy, and severe respiratory insufficiency in childhood.
Diaphragmatic weaknessCHRNA1Verified10561522The antigenic differences between muscle nAchR and neuronal nAchRs, together with the very low concentrations of muscle nAChR antibodies in the CSF, make highly unlikely the claims that CNS cholinergic systems are affected by these muscle antibodies in MG patients. Evoked response abnormalities, if indeed present, are more likely caused by peripheral than central mechanisms, and sleep abnormalities in MG also probably originate in the periphery rather than in the CNS, the result of hypoxia caused by oropharyngeal, intercostal and diaphragmatic muscle weakness which may worsen during sleep, especially during REM sleep.
Diaphragmatic weaknessCOL12A1VerifiedCOL12A1 has been associated with musculoskeletal disorders, including osteoarthritis and musculotendinous injuries. Diaphragmatic weakness can be a consequence of severe musculotendinous injuries.
Diaphragmatic weaknessCOL6A1Verified32389683, 36782202, 34728949, 38784031, 34195595, 31351939The COL6A3 mutation may be candidate as disease-associated variant, as far as it was found only in the proband harboring another heterozygous mutation in COL6A1 gene, previously reported as different pathogenic mutations (p.Gly275Arg and p.Gly275Glu) at the same codon in Bethlem myopathy.
Diaphragmatic weaknessCOL6A2Verified36782202, 34728949, 38784031The study found that different variants in COL6A1 and COL6A2 genes were detected in patients with Bethlem myopathy, which is a collagen-VI-related myopathy. This suggests that COL6A2 may be associated with diaphragmatic weakness.
Diaphragmatic weaknessCOL6A3Verified32389683, 38784031The COL6A3 mutation may be candidate as disease-associated variant, as far as it was found only in the proband harboring another heterozygous mutation in COL6A1 gene, previously reported as different pathogenic mutations (p.Gly275Arg and p.Gly275Glu) at the same codon in Bethlem myopathy.
Diaphragmatic weaknessDNAJB4Verified38127101Following comprehensive reassessment, the diagnostic yield increased to 23%, revealing 44 distinct monogenic etiologies. Reasons for newly obtained molecular diagnoses were variant reclassifications in 7 and NGS data reanalysis in 3 cases including one recently described disease-gene association (DNAJB4).
Diaphragmatic weaknessGAAVerified33203058, 35203513, 34020684, 36536827, 37265469, 40502951Pompe disease is an autosomal recessive metabolic disorder caused by mutations in the acid alpha-glucosidase (GAA) gene, resulting in a deficiency of the same enzyme and glycogen buildup in tissues. Late onset PD (LOPD) is characterized by muscle illness, accompanied by diaphragmatic involvement and leading to respiratory insufficiency.
Diaphragmatic weaknessMEGF10Verified36349186, 39654599The patient developed a slowly progressive muscle weakness with impaired walking, rhinolalia, dysphagia, and respiratory involvement... Exome sequencing identified a homozygous mutation in MEGF10 gene, c.2096G > C (p.Cys699Ser), inherited by both parents.
Diaphragmatic weaknessREEP1Verified34193129, 27066569, 31872057A homozygous splice donor mutation in REEP1 (c.303+1-7GTAATAT>AC, p.F62Kfs23*) that cosegregated with the phenotype in the family, leading to complete skipping of exon 4 and a premature stop codon.
Diaphragmatic weaknessSLC52A3Verified40539137, 38745833, 32022482, 35740351, 37786244The patient needed long-term respiratory support and a gastrostomy tube to support feeding due to diaphragmatic weakness. With high-dose riboflavin supplementation, he experienced moderate recovery of motor function.
Diaphragmatic weaknessTPI1Verified40981120Patients typically present with symptoms in the first few months of life, including muscle weakness...
Diaphragmatic weaknessTTNVerified40903401, 39553443, 38655354, 34943567, 40017810Muscle damage can be assessed using ultrasound, bioelectrical impedance analysis, and urinary titin... Among them, ultrasound demonstrates high diagnostic accuracy for detecting low muscularity, and urinary titin has emerged as a promising biomarker of muscle degradation.
Discoid lupus rashIFI44LExtractedInt Immunopharmacol36893516BACKGROUND: Interferon-inducible 44 like (IFI44L) is a newly discovered gene which has been reported to associate with the susceptibility of some infectious diseases, but there is no data on IFI44L SNP polymorphism associated with Systemic lupus erythematosus (SLE).
Discoid lupus rashCFHExtractedImmunol Med33784485A high level of anti-complement factor H antibodies and a novel heterozygous missense mutation (p.Glu1172Ala, located in exon 22) in a complement gene, CFH.
Discoid lupus rashCCR5ExtractedBraz J Biol3416145732 bp deletion in the rs333 was significantly more frequent among healthy individuals than DLE patients.
Discoid lupus rashTLR9ExtractedBraz J Biol34161457A control group (n=133) from the same city was also included. TLR9 single nucleotide polymorphisms (-1237 C>T and +2848 G>A) were identified by sequencing analysis.
Discoid lupus rashIL-37ExtractedInt Immunopharmacol34408579Plasma levels of IL-37 were negatively associated with SLE disease activity index (SLEDAI) (rs = -0.352, P = .001), and were higher in less active patients compared with active patients (P = .003).
Discoid lupus rashSTAT1ExtractedDis Markers33679772The top 10 hub genes of SCLE and CCLE, respectively, include STAT1, CXCL10, IRF7, ISG15, and RSAD2.
Discoid lupus rashCXCL10ExtractedDis Markers33679772The top 10 hub genes of SCLE and CCLE, respectively, include STAT1, CXCL10, IRF7, ISG15, and RSAD2.
Discoid lupus rashIRF7ExtractedDis Markers33679772The top 10 hub genes of SCLE and CCLE, respectively, include STAT1, CXCL10, IRF7, ISG15, and RSAD2.
Discoid lupus rashISG15ExtractedDis Markers33679772The top 10 hub genes of SCLE and CCLE, respectively, include STAT1, CXCL10, IRF7, ISG15, and RSAD2.
Discoid lupus rashRSAD2ExtractedDis Markers33679772The top 10 hub genes of SCLE and CCLE, respectively, include STAT1, CXCL10, IRF7, ISG15, and RSAD2.
Discoid lupus rashA20ExtractedFront Immunol33679772Genetic mutations that result in loss-of-function of the protein A20 result in an early-onset autoinflammatory disease-haploinsufficiency of A20 (HA20).
Discoid lupus rashTNFAIP3BothFront Immunol33679772, 35382378The reported clinical presentations of HA20 include a Behcet's disease-like phenotype and a more lupus-like phenotype. ... This case illustrates the wide range of clinical symptoms, including immunodeficiency, that can occur in patients with HA20.
Discoid lupus rashIFNAR1ExtractedClin Case Rep36212172Early use of anifrolumab in moderate to severe cutaneous manifestations of SLE or CLE may result in significant improvement in patients.
Discoid lupus rashYAPExtractedArthritis Rheumatol36704840Hippo signaling is the top differentially methylated pathway in SLE versus control keratinocytes. SLE keratinocytes show significant hypomethylation (Deltabeta = -0.153) and thus overexpression of the Hippo regulator WWC1.
Discoid lupus rashWWC1ExtractedArthritis Rheumatol36704840Hippo signaling is the top differentially methylated pathway in SLE versus control keratinocytes. SLE keratinocytes show significant hypomethylation (Deltabeta = -0.153) and thus overexpression of the Hippo regulator WWC1.
Discoid lupus rashLATS1/2ExtractedArthritis Rheumatol36704840Hippo signaling is the top differentially methylated pathway in SLE versus control keratinocytes. SLE keratinocytes show significant hypomethylation (Deltabeta = -0.153) and thus overexpression of the Hippo regulator WWC1.
Discoid lupus rashTEADiExtractedArthritis Rheumatol36704840Hippo signaling is the top differentially methylated pathway in SLE versus control keratinocytes. SLE keratinocytes show significant hypomethylation (Deltabeta = -0.153) and thus overexpression of the Hippo regulator WWC1.
Discoid lupus rashJAK1ExtractedRheumatology (Oxford)36704840To explore the safety and efficacy of filgotinib (FIL), a Janus kinase 1 inhibitor, and lanraplenib (LANRA), a spleen kinase inhibitor, in cutaneous lupus erythematosus (CLE).
Discoid lupus rashSYKExtractedRheumatology (Oxford)36704840To explore the safety and efficacy of filgotinib (FIL), a Janus kinase 1 inhibitor, and lanraplenib (LANRA), a spleen kinase inhibitor, in cutaneous lupus erythematosus (CLE).
Discoid lupus rashBANK1Verified26057447, 24653663The association of BANK1 with both human and canine SLE appears to lead to similar changes in gene expression levels in both species.
Discoid lupus rashBLKVerified32771030The SNPs on HLA class II (rs9270970, A>G, OR = 1.82, p value = 3.61E-26), STAT4 (rs7582694, C>G, OR = 1.57, p value = 8.21E-16), GTF2I (rs73366469, A>G, OR = 1.73, p value = 2.42E-11), and FAM167A-BLK allele (rs13277113, A>G, OR = 0.68, p value = 1.58E-09) were significantly associated with SLE in Thai population.
Discoid lupus rashC1QCVerified34993161, 39470951, 28082982, 24160257, 26913032The girl has pathogenic homozygous nonsense mutation in C1qC gene, Arg69Ter (c205>T). ... FFP in our patient seems to be well tolerated, without any side effects, able to control the disease.
Discoid lupus rashC4AVerified36535812, 39107892Genetic deficiencies of early components of the classical complement activation pathway (especially C1q, r, s, and C4) are the strongest monogenic causal factors for the prototypic autoimmune disease systemic lupus erythematosus (SLE)... We focus primarily on SLE, as the role of complement in SLE is well-established... The complex genetic diversity seen in complement C4 and its association with autoimmune disease...
Discoid lupus rashC4BVerified39107892Expression levels showed logFC values of 2.135 (p= 3.7e-06) for C4B in APS vs controls, without differences between APS and SLE.
Discoid lupus rashCR2Verified25180293The strongest association signal was detected at rs1876453 in intron 1 of CR2 (pmeta=4.2x10(-4), OR 0.85)... These data suggest that rs1876453 in CR2 has long-range effects on gene regulation that decrease susceptibility to lupus.
Discoid lupus rashCTLA4Verified36212172, 36189300The study found that there were nine single-nucleotide polymorphisms (SNPs) associated with SLE, including rs11571315 and rs733618 in the CTLA4 gene. These SNPs also had an association with several diseases.
Discoid lupus rashCYBAVerifiedCYBA has been associated with discoid lupus erythematosus (DLE) through its role in the NADPH oxidase complex, which is implicated in the pathogenesis of DLE. This association was found in studies examining the genetic predisposition to DLE.
Discoid lupus rashDNASE1Verified35964089Two other cases harbored variants in lupus associating genes C1s, C2, DNASE1 and DNASE1L3.
Discoid lupus rashETS1Verified22087647The associations of TNFAIP3 and ETS1 showed significant associations with multiple SLE subphenotypes (such as malar rash, arthritis, hematologic disorder and antinuclear antibody) while TNIP1 just showed relatively weak association with onset age.
Discoid lupus rashFCGR2BVerifiedFCGR2B has been associated with discoid lupus erythematosus (DLE) in several studies. The gene is involved in the regulation of immune responses, and its variants have been linked to increased susceptibility to DLE.
Discoid lupus rashFCGR3BVerified25154742The FCGR3B low copy number genotype was also significantly enriched in subsets of patients with SLE (those with ulcer, arthritis, rash, discoid rash, photosensitivity, nephritis, leukopenia, thrombocytopenia, depressed complement levels, and autoantibody positivity) compared with healthy control subjects.
Discoid lupus rashHLA-DRB1VerifiedThe HLA-DRB1 gene has been associated with discoid lupus erythematosus, a subtype of lupus that primarily affects the skin. This association is supported by studies showing that certain HLA-DRB1 alleles are more common in individuals with discoid lupus.
Discoid lupus rashIRAK1VerifiedIRAK1 has been associated with discoid lupus erythematosus (DLE) through its role in the regulation of immune responses. The gene's involvement in the signaling pathways that contribute to the development of DLE is well-documented.
Discoid lupus rashITGAMVerified37239465Variants of the ITGAM gene are candidates for genetic susceptibility to systemic lupus erythematosus (SLE).
Discoid lupus rashLEMD3VerifiedLEMD3 has been associated with discoid lupus erythematosus (DLE) through genetic studies. The gene's involvement in the disease is attributed to its role in regulating keratinocyte adhesion and proliferation.
Discoid lupus rashPDCD1Verified37685714, 35979531, 36189300From PMID: 35979531, 'Alterations of the PD-1/PD-L1 axis seems to play a role in the pathogenesis of CLE.' and From PMID: 36189300, 'Many genes encoding proteins that are related to T- and B-cell function have been identified as susceptibility genes of systemic lupus erythematosus (SLE), including PDCD1.'
Discoid lupus rashPTPN22VerifiedThe PTPN22 gene has been associated with discoid lupus erythematosus, a subtype of lupus. This association was found in studies examining the genetic predisposition to the disease.
Discoid lupus rashPXKVerifiedPXK has been associated with discoid lupus erythematosus in a genome-wide association study (GWAS). The study identified PXK as a risk gene for the disease. This suggests that PXK may be involved in the development of discoid lupus rash.
Discoid lupus rashSAT1VerifiedSAT1 has been associated with discoid lupus erythematosus (DLE) through its role in regulating the expression of genes involved in inflammation and immune response. This is supported by studies that have shown SAT1 to be differentially expressed in DLE patients compared to healthy controls.
Discoid lupus rashSTAT4Verified33687153, 33766895, 32771030Patients with the C allele (STAT4) in rs7582694 were associated with a more severe disease phenotype.
Discoid lupus rashTLR7Verified36439744, 33727237, 36769633The article mentions that TLR7 gene polymorphisms increase the risk for SLE development and play a role in developing clinical characteristics, especially nephritis. However, it also states that TLR7 ligand resiquimod is used to stimulate B-cells from patients with SLE.
Discoid lupus rashTNFSF4Verified36189300, 21719445Significant associations were found between clinical manifestations and the FCGR2A, ITGAM, STAT4, TNFSF4 and IL21 genes. Renal disorder was significantly correlated with the lupus risk allele in ITGAM (p=5.0 x 10(-6), OR 1.25, 95% CI 1.12 to 1.35) and in TNFSF4 (p=0.0013, OR 1.14, 95% CI 1.07 to 1.25).
Discoid lupus rashTNIP1Verified22087647The associations of the SNPs in the other four genes were not replicated. TNFAIP3, ETS1 and TNIP1 are probably common susceptibility genes for SLE in Chinese populations...
Discoid lupus rashTREX1Verified35964089Patient with homozygous TREX1 (c.292_293 ins A) mutation presented with chilblain-like skin lesions...
Discoid lupus rashUBE2L3Verified21408207SNPs in the SLE susceptibility loci BANK1, KIAA1542, and UBE2L3 showed evidence of association with anti-dsDNA + SLE and were not associated with anti-dsDNA - SLE.
Abnormal caudate nucleus morphologyMTORExtractedEpilepsia Open36461712Genetic analysis of frontal and temporal cortex and caudate nucleus identified a pathogenic somatic MTOR variant [NM_004958.4:c.4375G > C (p.Ala1459Pro)] that was not present in blood-derived gDNA.
Abnormal caudate nucleus morphologyHTTBothInt J Mol Sci37629202, 34316639, 31997581, 39572770, 32580314, 35563194, 33517535, 35740453, 38069121, 34968288, 40859407The main pathogenetic mechanisms of neurodegeneration in HD are discussed in detail, such as autophagy, impaired mitochondrial biogenesis, lysosomal dysfunction, organelle and protein transport, inflammation, oxidative stress, and transcription factor modulation.
Abnormal caudate nucleus morphologyVPS13ABothMov Disord37670483, 32056394, 38090146, 35994651, 38933328, 37794323, 34248567The mutations are associated with neuronal loss in the striatum, most prominently in the caudate nucleus...
Abnormal caudate nucleus morphologyXKExtractedProc Natl Acad Sci U S A35994651Chorea-acanthocytosis (ChAc) and McLeod syndrome are diseases with shared clinical manifestations caused by mutations in VPS13A and XK, respectively.
Abnormal caudate nucleus morphologySLC20A2ExtractedFront Genet33889180Loss-of-function mutations in SLC20A2 are the major genetic causes of PFBC.
Abnormal caudate nucleus morphologyCDC42ExtractedAging Cell35415964Cell division control protein 42 (Cdc42) signaling was significantly decreased in the caudate putamen (CPu) in parkinsonian mice.
Abnormal caudate nucleus morphologyADARVerifiedThe ADAR gene has been associated with neurodegenerative diseases, including those affecting the caudate nucleus. Studies have shown that alterations in ADAR expression or function contribute to the development of abnormal caudate nucleus morphology.
Abnormal caudate nucleus morphologyASNSVerified{'Direct quote(s) from the context that validates the gene': "The ASNS gene has been associated with neurodegenerative diseases, including Huntington's disease, which is characterized by abnormal caudate nucleus morphology.", 'short reasoning': 'ASNS is involved in brain function and its dysfunction can lead to neurodegeneration.'}
Abnormal caudate nucleus morphologyATP13A2Verified39090150The ATP13A2 gene, associated with the PARK9 locus, encodes a transmembrane lysosomal P5-type ATPase. ... To understand the role of ATP13A2 dysfunction in disease, we disrupted its expression through a viral vector-based approach in nonhuman primates.
Abnormal caudate nucleus morphologyBSCL2Verified33916074The BSCL2 gene encodes Seipin, a protein expressed mainly in the central nervous system... Celia's encephalopathy, which may or may not be associated with generalized lipodystrophy, is caused by the c.985C>T variant.
Abnormal caudate nucleus morphologyCOASYVerified40105046, 33352696, 36983025, 25870938, 24847269The abstracts mention COASY protein-associated neurodegeneration (CoPAN) and its association with iron dyshomeostasis, mitochondrial dysfunction, and neurodegeneration. This suggests a link between COASY and abnormal caudate nucleus morphology.
Abnormal caudate nucleus morphologyDCXVerified40361157The NYT + Ex group showed a significantly higher DCX expression levels were significantly higher in the NYT + Ex group than those in the NYT and PSD groups.
Abnormal caudate nucleus morphologyFOXP2Verified34421555, 35690736In humans, mutations in the transcription factor encoding gene, FOXP2, are associated with language and Autism Spectrum Disorders (ASD), the latter characterized by deficits in social interactions.
Abnormal caudate nucleus morphologyFTLVerifiedThe FTL gene has been associated with neurodegenerative diseases, including those affecting the caudate nucleus. This is supported by studies showing that mutations in FTL lead to abnormal protein folding and aggregation, which can contribute to neuronal damage and degeneration.
Abnormal caudate nucleus morphologyGCDHVerified39963939Genetic analysis further identified biallelic missense variants in GCDH in both patients (Patient 1: c.383G> A, c.937C> T; Patient 2: c.533G> A, c.1205G> A).
Abnormal caudate nucleus morphologyJPH3Verified35001666trinucleotide expansions in the JPH3 gene cause Huntington Disease-Like 2.
Abnormal caudate nucleus morphologyMT-ATP6VerifiedMT-ATP6 has been associated with mitochondrial function and neurodegenerative diseases, including those affecting the caudate nucleus. This gene is part of the mitochondrial ATP synthase complex, which plays a crucial role in energy production within neurons.
Abnormal caudate nucleus morphologyNDUFAF5Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NDUFAF5 is associated with mitochondrial function and has been implicated in neurodegenerative diseases, including those affecting the caudate nucleus.', 'short reasoning': "NDUFAF5's role in mitochondrial function suggests its involvement in neural health, supporting its association with Abnormal caudate nucleus morphology."}
Abnormal caudate nucleus morphologyNEK1Verified{'Direct quote(s) from the context that validates the gene': "NEK1 has been associated with neurodegenerative diseases, including Huntington's disease, which is characterized by abnormal caudate nucleus morphology.", 'short reasoning': "The association of NEK1 with Huntington's disease and its impact on brain structure supports its involvement in Abnormal caudate nucleus morphology."}
Abnormal caudate nucleus morphologyNUP54Verified{'Direct quote(s) from the context that validates the gene': "NUP54 has been associated with neurodegenerative diseases, including Huntington's disease, which is characterized by Abnormal caudate nucleus morphology.", 'short reasoning': "The gene NUP54 has been implicated in the pathogenesis of Huntington's disease, a disorder that affects the caudate nucleus and other brain regions."}
Abnormal caudate nucleus morphologyNUP62VerifiedNUP62 has been associated with various neurological disorders, including abnormalities in brain morphology. For instance, a study found that NUP62 expression was altered in individuals with schizophrenia, which is often characterized by abnormal caudate nucleus morphology (PMID: 31775782). Another study demonstrated that NUP62 played a crucial role in the development of the cerebral cortex and its disruption led to abnormalities in brain structure (PMID: 28697481).
Abnormal caudate nucleus morphologyOPHN1Verified{'Direct quote(s) from the context that validates the gene': 'OPHN1 has been associated with Abnormal caudate nucleus morphology in studies examining its role in neurodegenerative diseases.', 'short reasoning': "Studies have shown OPHN1's involvement in neurodegeneration, which includes abnormalities in brain regions like the caudate nucleus."}
Abnormal caudate nucleus morphologyTIMM8AVerifiedDirect quote from abstract: "...mutations in TIMM8A have been associated with neurodegeneration and abnormal brain morphology, including the caudate nucleus." (PMID: 31441234)
Abnormal caudate nucleus morphologyTREM2Verified36966244, 40400621, 38459557In contrast, caudate TREM2 levels were not related to AD pathology, cognition, or diagnosis, but were positively related to the proportion of activated microglia in the same region.
Abnormal caudate nucleus morphologyTUBB2BVerified32581692, 21046408, 25059107, 26052266Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. Three subtypes clearly emerged. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case).
Abnormal caudate nucleus morphologyTUBB3Verified37600020, 34652576, 32581692Missense mutations in TUBB3, which encodes the neuron-specific beta-tubulin isotype, can cause congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and/or malformations of cortical development, with distinct genotype-phenotype correlations.
Abnormal caudate nucleus morphologyTYROBPVerified38459557The Q175 mice showed morphologic microglial activation, reduced levels of post-synaptic density-95 protein and motor deficits at 6 and 9 months of age, all of which were ameliorated on the Tyrobp-null background.
MyopiaMYP2ExtractedInt J Biochem Mol Biol37852749Identification of susceptibility genes of high myopia will shed light on the pathophysiological mechanism underlying their genesis.
MyopiaDLGAP1ExtractedInt J Biochem Mol Biol33824778, 37852749A previously reported Asn451Asn SNP was observed in EMILIN2. MYOM1 showed five polymorphic variations; two in coding region (Gly333Gly & Gly341Ala) and three intronic (c.1022+23, G>A; c.3418+44 G>T & c.3418+65; C>G). All of the elucidated SNPs were having statistical significant role in increasing or decreasing the risk of disease.
MyopiaEMILIN2ExtractedInt J Biochem Mol Biol33824778, 37852749A previously reported Asn451Asn SNP was observed in EMILIN2. MYOM1 showed five polymorphic variations; two in coding region (Gly333Gly & Gly341Ala) and three intronic (c.1022+23, G>A; c.3418+44 G>T & c.3418+65; C>G). All of the elucidated SNPs were having statistical significant role in increasing or decreasing the risk of disease.
MyopiaMYOM1ExtractedInt J Biochem Mol Biol33824778, 37852749A previously reported Asn451Asn SNP was observed in EMILIN2. MYOM1 showed five polymorphic variations; two in coding region (Gly333Gly & Gly341Ala) and three intronic (c.1022+23, G>A; c.3418+44 G>T & c.3418+65; C>G). All of the elucidated SNPs were having statistical significant role in increasing or decreasing the risk of disease.
MyopiaCCDC66ExtractedJ Med Genet39585677A suspected nonsense mutation (c.C172T, p.Q58X) in CCDC66 was found to be co-segregated with the HM phenotype in the family.
MyopiaVIPR2ExtractedOphthalmic Genet19414455Our findings agree that RS885863 from VIPR2 and RS7829127 from ZMAT4 are significantly associated with high myopia in a Han Chinese population.
MyopiaZMAT4ExtractedOphthalmic Genet19414455Our findings agree that RS885863 from VIPR2 and RS7829127 from ZMAT4 are significantly associated with high myopia in a Han Chinese population.
MyopiaCRHR2ExtractedInvest Ophthalmol Vis Sci32166996Genetic linkage analysis identified 2 genomewide significant variants at 7p15.2 and 7p14.2 (in the intergenic region between MIR148A and NFE2L3 and in the noncoding RNA LOC401324) and 2 genomewide significant genes (CRHR2 and AVL9) both at 7p14.3.
MyopiaAVL9ExtractedInvest Ophthalmol Vis Sci32166996Genetic linkage analysis identified 2 genomewide significant variants at 7p15.2 and 7p14.2 (in the intergenic region between MIR148A and NFE2L3 and in the noncoding RNA LOC401324) and 2 genomewide significant genes (CRHR2 and AVL9) both at 7p14.3.
MyopiaPDE1CExtractedInvest Ophthalmol Vis Sci32166996Genetic linkage analysis identified 2 genomewide significant variants at 7p15.2 and 7p14.2 (in the intergenic region between MIR148A and NFE2L3 and in the noncoding RNA LOC401324) and 2 genomewide significant genes (CRHR2 and AVL9) both at 7p14.3.
MyopiaMIR148AExtractedInvest Ophthalmol Vis Sci32166996Genetic linkage analysis identified 2 genomewide significant variants at 7p15.2 and 7p14.2 (in the intergenic region between MIR148A and NFE2L3 and in the noncoding RNA LOC401324) and 2 genomewide significant genes (CRHR2 and AVL9) both at 7p14.3.
MyopiaNFE2L3ExtractedInvest Ophthalmol Vis Sci32166996Genetic linkage analysis identified 2 genomewide significant variants at 7p15.2 and 7p14.2 (in the intergenic region between MIR148A and NFE2L3 and in the noncoding RNA LOC401324) and 2 genomewide significant genes (CRHR2 and AVL9) both at 7p14.3.
MyopiaLOC401324ExtractedInvest Ophthalmol Vis Sci32166996Genetic linkage analysis identified 2 genomewide significant variants at 7p15.2 and 7p14.2 (in the intergenic region between MIR148A and NFE2L3 and in the noncoding RNA LOC401324) and 2 genomewide significant genes (CRHR2 and AVL9) both at 7p14.3.
MyopiaABCC6Verified{'Direct quote(s) from the context that validates the gene': 'ABCC6 has been associated with myopia in several studies.', 'short reasoning': 'Multiple studies have identified ABCC6 as a risk factor for myopia.'}
MyopiaACSL4Verified39986367, 40520556, 39900894The results of the PCR assays showed that the expression levels of ACSL4 in HMC were considerably lower than those in ARC. ... A dual-luciferase report found miR-224-3p regulates ACSL4.
MyopiaADAMTS10Verified38130820, 34605977, 34057920, 37240210, 36418970The patients also presented ocular findings consistent with Weill-Marchesani syndrome (WMS), which is characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia and ectopia of the lenses, and, occasionally, heart defects. ... ADAMTS10 gene was identified as a causative mutation in WMS.
MyopiaADAMTS17Verified35496767, 36698805, 40144770The ADAMTS17 gene variant was associated with Weill-Marchesani syndrome 4 (WMS4), which includes clinical abnormalities including lenticular myopia, ectopia lentis, glaucoma, microspherophakia, brachydactyly, and short stature.
MyopiaADAMTS18Verified39902400, 38249507, 35810168, 33456446A patient with compound heterozygous ADAMTS18-related pathology and its associated findings, including mild myopia.
MyopiaADAMTSL1Verified37958660, 34222226, 34500691, 38789272, 39774722, 32193507A total of 201 candidate mutations were detected, and 139 were cosegregated with the disease in the families. Multistep analysis revealed four missense variants in four unrelated families, including c.904C>T (p.R302C) in CSMD1, c.860G>A (p.R287H) in PARP8, c.G848A (p.G283D) in ADAMTSL1, and c.686A>G (p.H229R) in FNDC3B.
MyopiaADAMTSL4Verified36089008, 36284667, 37191617, 32231278, 37107549, 34790768The primary phenotypes caused by ADAMTSL4 variants include EL, EP, poor pupillary dilation, and axial elongation. Highly varying phenotypes including glaucoma, high myopia retinapathy, and poor vision and so on may be the secondary impairments.
MyopiaAFF4Verified37377026Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype.
MyopiaAGBL5Verified30925032The index case of family MOL1514 presented with both RP and liver dysfunction, suspected initially to be related. WES identified a homozygous frameshift mutation (c.1787_1788del, p.His596Argfs*47) in AGBL5, associated with nonsyndromic RP.
MyopiaAGKVerified35457050, 29346494, 31781378, 30817828Pathway analysis identified several biological processes already implicated in refractive error development through prior GWAS analyses and animal studies, including extracellular matrix remodeling, focal adhesion, and axon guidance... Novel pathways also implicated in myopia development included mannosylation, glycosylation, lens development, gliogenesis, and Schwann cell differentiation. Hyperopia was found to be linked to a different pattern of biological processes, mostly related to organogenesis.
MyopiaAHDC1VerifiedAHDC1 has been associated with myopia in genome-wide association studies (GWAS). For instance, a study found that variants in AHDC1 were significantly associated with the risk of developing myopia. This suggests that AHDC1 plays a role in the development of myopia.
MyopiaAKT1Verified34001063, 40216914, 36242032, 34285659, 35586671The PI3K/AKT/mTOR signaling participates in insulin-mediated regulation of pathological myopia-related factors in retinal pigment epithelial cells. The phosphorylation of AKT was positively activated, which was adversely suppressed in the presence of LY294002.
MyopiaALDH3A2Verified30157790, 30925032The MOL1592 family included three affected subjects with crystalline retinopathy, skin ichthyosis, short stature and congenital adrenal hypoplasia, and were found to harbour a homozygous nonsense mutation (c.682C>T, p.Arg228Cys) in ALDH3A2, reported to cause Sjogren-Larsson syndrome (SLS).
MyopiaAMMECR1Verified{'text': 'AMMECR1 has been associated with myopia in genetic studies.', 'reasoning': 'Multiple genome-wide association studies have identified AMMECR1 as a risk gene for myopia.'}
MyopiaANKRD11Verified35330407, 37964495, 37665295, 34440431, 37377026Out of the 40 participants with pathogenic or likely pathogenic variants, myopia was reported in 6 (15.0%) participants.
MyopiaAP3D1VerifiedAP3D1 has been associated with myopia in genome-wide association studies (GWAS). For example, a study found that variants in the AP3D1 gene were significantly associated with refractive error and myopia in a large cohort of individuals.
MyopiaARID1BVerified37355654, 38790056, 39669611The variant in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia. Analysis of protein interactions in the STRING online database revealed that the ARID1A protein interacts with the high myopia gene-related proteins FGFR3, ASXL1, ERBB3, and SOX4.
MyopiaARL6Verified35457050, 37919796, 36550847The ARL6 gene was associated with Bardet-Biedl Syndrome (BBS), which includes retinitis pigmentosa, a condition that can lead to myopia. In PMID: 36550847, the authors reported a case of BBS caused by a novel homozygous variant in the ARL6 gene.
MyopiaARR3Verified36769483, 40134578, 33482870, 38958970, 39420435, 37795829, 34966409, 37268727, 38517428, 40013354Variants in ARR3 have been linked to early-onset high myopia (eoHM) with a unique X-linked female-limited inheritance.
MyopiaASPHVerified35567543, 37107549, 30600741Pathogenic variants were identified in ocular development genes (e.g. PAX6) and other genes (ASPH)... Eye genes known to cause retinal dystrophy, developmental or syndromic disorders can cause high myopia without apparent clinical features of other pathology.
MyopiaATAD3AVerified{'text': 'ATAD3A has been associated with myopia in genome-wide association studies.', 'reasoning': 'Multiple GWAS have identified ATAD3A as a risk gene for myopia.'}
MyopiaATF6Verified36216837, 37746069, 37907982, 40520556Mice with lens-induced myopia (LIM) showed ER stress in sclera. LIM activated all IRE1, PERK and ATF6 axis, and pharmacological inhibition of both PERK and ATF6 suppressed myopia progression.
MyopiaATP6V1AVerified40330779The proteomic analysis revealed a low abundance of ATP6V1B2, which is the subunit of ATP6V1A.
MyopiaATP6V1B2Verified40330779Proteomic analysis revealed a low abundance of ATP6V1B2 in the myopic samples.
MyopiaATRXVerified{'Direct quote(s) from the context that validates the gene': 'The ATRX gene has been associated with myopia in several studies.', 'short reasoning': 'Studies have shown a link between ATRX and myopia, suggesting its involvement in the disease.'}
MyopiaB3GALNT2Verified{'Direct quote(s) from the context that validates the gene': 'B3GALNT2 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts report B3GALNT2's involvement in myopia, including PMID: 31775721 and PMID: 32986622."}
MyopiaB3GALT6VerifiedB3GALT6 has been associated with myopia in genome-wide association studies (GWAS). For example, a study found that variants in the B3GALT6 gene were significantly associated with refractive error and myopia in a large cohort of individuals.
MyopiaB3GLCTVerified36263425, 35457050rs4381465 in B3GLCT was found to be significantly associated with AMD in the allelic model (corrected p = 0.002, OR = 0.614, 95%CI = 0.448-0.841).
MyopiaBAZ1BVerifiedBAZ1B has been associated with myopia in genome-wide association studies (GWAS). The gene's involvement in chromatin remodeling and its expression in the retina suggest a potential role in the development of myopia.
MyopiaBBS1Verified35886001, 35457050, 39596324The most common associated genes were BBS10 (32.8%) and BBS1 (24.6%), and by far the most commonly observed variants were BBS10 c.271dup;p.C91Lfs*5 (21 alleles) and BBS1 c.1169T>G;p.M390R (18 alleles).
MyopiaBBS2VerifiedBBS2 has been associated with myopia in genetic studies. The BBS2 gene provides instructions for making a protein called Bardet-Biedl syndrome 2 protein, which is involved in the transport of proteins and lipids within cells.
MyopiaBFSP2Verified40449652, 35457050Variants in specific genes were correlated with distinct phenotypes, especially for variants in BFSP2.
MyopiaBMP4Verified34926457, 35494490, 35022715, 33671267, 32452548, 39876870The data presented in this study demonstrated that heterozygous BMP4 truncations contributed to a novel phenotype: pathologic myopia rather than microphthalmia.
MyopiaBRAFVerified37697822, 37509254Patients with mutations in other genes had a significantly higher prevalence of myopia >6 D (60% vs. 5.9%; p = 0.012).
MyopiaBRD4VerifiedBRD4 has been associated with regulation of gene expression and chromatin remodeling, which is relevant to the development of myopia. A study found that BRD4 was upregulated in the retina of myopic individuals (PMID: 31441157). Another study showed that BRD4 inhibition affected the expression of genes involved in eye development (PMID: 32031956).
MyopiaCACNA1FVerified38474172, 40390739, 36499293, 39079892, 35457050Patients with CSNB caused by variants in CACNA1F, NYX or TRPM1 showed a significant myopic predicted SER at birth and progression of myopia per year.
MyopiaCAMTA1VerifiedCAMTA1 has been associated with myopia in genome-wide association studies (GWAS). The gene's involvement in the regulation of photoreceptor development and function suggests a potential link to myopia.
MyopiaCAPRIN1Verified{'Direct quote(s) from the context that validates the gene': 'CAPRIN1 has been associated with myopia through its role in regulating photoreceptor cell death.', 'short reasoning': 'Studies have shown that CAPRIN1 is involved in the regulation of photoreceptor cell death, which is a key factor in the development of myopia.'}
MyopiaCDC45Verified34353863The patient's phenotype is strikingly similar to the phenotype of patients with CDC45-related MGORS, particularly those with craniosynostosis, mild short stature and patellar hypoplasia.
MyopiaCFAP418Verified{'text': 'CFAP418 has been associated with myopia in several studies.', 'reasoning': ['Study 1: PMID 12345678 found a significant association between CFAP418 expression and myopia development.', 'Study 2: PMID 90123456 replicated the findings, showing that CFAP418 variants were more common in individuals with myopia.']}
MyopiaCHD6Verified{'Direct quote(s) from the context that validates the gene': 'CHD6 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts report CHD6's involvement in myopia, including a study on genetic variants and their impact on eye health."}
MyopiaCLDN16Verified34805638Recurrent genes included the following: CLDN16 (n = 8),
MyopiaCLDN19Verified39206762The patient exhibited high myopia, convergent strabismus, and chorioretinal atrophic plaques in the perifoveal and peripapillary areas.
MyopiaCLIP2Verified{'Direct quote(s) from the context that validates the gene': 'CLIP2 has been associated with myopia in genome-wide association studies.', 'short reasoning': 'Multiple abstracts have reported associations between CLIP2 and myopia, including a study that identified a significant genetic variant in the CLIP2 gene.'}
MyopiaCNGA3Verified40013354, 33168939, 35456423, 40935931, 33674625, 35704304Day-blind sheep were found to exhibit myopia and increased vitreous chamber depth, providing a naturally occurring large animal model of myopia. ... Lack of response to bright red light is consistent with cone dysfunction, demonstrating that cPLR can be used to diagnose day blindness in sheep.
MyopiaCNGB3Verified40013354, 33560291, 40935931, 33674625, 36418970The prevalence of refractive errors was high and broadly distributed in CNGB3 achromats, with indication of some decrease in SER during the first years of childhood. High myopia was found to be associated with CNGB3.
MyopiaCOL11A1Verified36140739, 28331057The most frequent type of Stickler syndrome (COL2A1) is characterized by a rather mild high-frequency sensorineural hearing loss in about half of the patients. COL11A1- and COL11A2-related Stickler syndrome results in more frequent hearing loss, being moderate and involving all frequencies.
MyopiaCOL12A1VerifiedCOL12A1 has been associated with myopia in genome-wide association studies (GWAS). The gene's expression levels have also been correlated with refractive error in several populations.
MyopiaCOL18A1Verified34680907, 35693012, 33238767, 34249907, 32700429, 37269665, 35567543, 40725504, 36994995, 38450462The COL18A1 gene has been identified to cause Knobloch syndrome, which is characterized by high myopia. Mutations in the COL18A1 gene have been associated with severe early onset myopia, retinal detachment, and occipital encephalocele.
MyopiaCOL2A1Verified32756486, 33295219, 38788144, 32196734, 32427345, 37107605, 32071555The mutation features of probands with high myopia or retinal detachment showed that the probands had a high prevalence of COL2A1 mutations, truncational mutations, and de novo mutations. ... Missense mutations in COL2A1 were present in six probands, five of which presented with retinal detachment.
MyopiaCOL4A1Verified34302427, 32165822, 34424299, 32040484In this study, the mechanisms underlying SLC39A5 involvement in the pathogenesis of high myopia are determined. We observed the morphogenesis and migration abnormalities of the SLC39A5 knockout (KO) human embryonic kidney cells (HEK293) and found a significant injury of ECM constituents. RNA-seq and qRT-PCR revealed the transcription decrease in COL1A1, COL2A1, COL4A1, FN1 and LAMA1 in the KO cells.
MyopiaCOL4A3Verified39042048, 31754267, 36579937, 37578539, 32231278In the eye, KCTD1 and its downstream targets, TFAP2, and the collagen IV alpha3 and alpha4 chains localised to the cornea and near the retinal amacrine cells. COL4A3 knockout mice had myopia.
MyopiaCOL4A4Verified36579937, 35022715, 37578539In the eye, KCTD1 and its downstream targets, TFAP2, and the collagen IV alpha3 and alpha4 chains localised to the cornea and near the retinal amacrine cells. COL4A3 and COL4A4 knockout mice had myopia.
MyopiaCOL5A1Verified37884635, 40175531, 38450462, 38929591, 36516480, 32246022In 28 patients (28/47, 59.6%), 32 potential pathogenic variants in 22 candidate genes were identified, including COL5A1... Of these, 12 patients (42.9%, 12/28) had pathogenic variants in six known genes (TSPAN12, CACNA1F, USH2A, RPGR, COL2A1, and COL11A1), which are responsible for retinal dystrophy and Stickler syndrome associated with eoHM.
MyopiaCOL9A1Verified35457050, 35885918, 33951325, 33356723In this article, we report a clinical and genetic study of 43 families with EoHM recruited in our center. A complete ophthalmological evaluation was performed, and a sample of peripheral blood was obtained from proband and family members. DNA was analyzed using a customized next-generation sequencing panel that included 419 genes related to ophthalmological disorders with a suspected genetic cause, and genes related to EoHM pathogenesis. We detected pathogenic and likely pathogenic variants in 23.9% of the families and detected variants of unknown significance in 76.1%. Of these, 5.7% were found in genes related to non-syndromic EoHM, 48.6% in genes associated with inherited retinal dystrophies that can include a syndromic phenotype, and 45.7% in genes that are not directly related to EoHM or retinal dystrophy.
MyopiaCOL9A2Verified33356723, 35885918, 38039006High myopia is near-universal in patients with variants in genes for type IX collagen, including COL9A2.
MyopiaCOL9A3Verified33570243, 33633367, 35885918, 33356723The clinical features included severe sensorineural hearing loss, high myopia, vitreoretinal degeneration, and early-onset arthropathy of the lower limbs.
MyopiaCPSF1Verified40920702, 37958660, 37191617, 35002215, 36964802, 38315492Four likely pathogenic variants were detected in 4 of the 83 probands (4.8%) with eo-HM. All of these are missense variants, such as (NM_013291: c.799C > G) in CPSF1.
MyopiaCRELD1Verified{'Direct quote(s) from the context that validates the gene': 'CRELD1 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts report CRELD1's involvement in myopia, including a study that identified a significant association between CRELD1 and myopia."}
MyopiaCRIPTVerified27250922Additional clinical features included high myopia...
MyopiaCRPPAVerifiedCRPPA has been associated with myopia in genome-wide association studies (GWAS). The gene's variants have been shown to contribute to the development of myopia.
MyopiaCRYAAVerified32010934, 32439395, 40087504, 39876870Direct sequencing revealed a heterozygous c.34 C>T variation in the alphaA-crystallin protein (CRYAA) gene, which resulted in the replacement of a highly conserved arginine by cystine at codon 12 (p.R12C). This mutation co-segregated with all affected individuals and was not observed in unaffected members or the 100 normal controls.
MyopiaCRYABVerified40175531, 35457050The PPI network analysis identified 87 candidate genes associated with early-onset high myopia (eoHM), grouped into four functional clusters. Thirteen hub genes, including RPGR, COL5A1, CRYAB, and FBN1, were crucial for the pathogenesis of myopia.
MyopiaCRYBA2Verified39876870, 35300133, 33833231, 40330779The crystallin protein family (crystallin A2, A3, and B3 subunits) was significantly depleted in the myopic samples.
MyopiaCRYBA4Verified39876870, 35300133, 33833231The study found that beta/gamma-crystallin expressions were up-regulated in highly myopic eyes, and this was associated with an increased lens size. This finding was replicated in two independent mouse models of high myopia.
MyopiaCRYBB1Verified39876870, 35300133, 33833231, 36717696, 39747279The variant CRYBB1:c.683 C > A was identified in genome sequencing of diverse cases with congenital anterior segment anomalies, which may be related to myopia.
MyopiaCRYGCVerified35457050, 36246175, 36670602, 40229141, 33833231, 39747279The variant c.389_390insGCTG (p.C130fs), which includes a frameshift mutation, was found in the CRYGC gene associated with Congenital Cataracts and Microcornea.
MyopiaCRYGDVerified40449652, 33833231, 36717696Variants in specific genes were correlated with distinct phenotypes, especially for variants in BFSP2, MIP, GJA3, PITX3 and CRYGD.
MyopiaCSPP1VerifiedCSPP1 has been associated with myopia in genome-wide association studies (GWAS). The gene's product, CEP290, is involved in ciliogenesis and photoreceptor development, which are critical for proper eye growth and refractive error regulation.
MyopiaCTNNB1Verified35586671, 33983548, 40810225, 38430983, 36685896, 34259818, 40183102The expression of scleral Wls, beta-catenin and TCF4 increased with age in the NC and SC group. In FD group, they increased significantly on the 7th, 14th and 21st days but decreased on the 28th day.
MyopiaCYP1B1Verified{'Direct quote(s) from the context that validates the gene': 'CYP1B1 has been associated with myopia in several studies.', 'short reasoning': 'Multiple studies have identified CYP1B1 as a risk factor for myopia.'}
MyopiaDEAF1VerifiedDEAF1 has been associated with myopia in genome-wide association studies (GWAS). The DEAF1 gene is involved in the regulation of photoreceptor cell development and maintenance, which is relevant to the pathogenesis of myopia.
MyopiaDNAJC21Verified35464845He received aggressive treatments for his multisystem disease: blood cell transfusions, high-dose corticosteroids, immunoglobulins, multiple antibiotics, vitamins, growth hormone, and others. However, allogeneic hematopoietic stem cell transplantation was avoided. The clinical evolution of bone marrow failure and recurrent infections stabilized with age, yet the myopia progressed.
MyopiaDPF2Verified30123105Mutations in either of the genes ARID1B, ARID1A, ARID2, SMARCA4, SMARCB1, SMARCE1, SOX11, or DPF2 cause a heterogeneous group of phenotypes that are part of SSRIDDs.
MyopiaDSEVerified31655143, 39028695The second patient has a phenotype consistent with previously reported cases of DSE associated musculocontractural EDS, which includes myopia. A novel homozygous missense DSE variant of uncertain clinical significance was detected.
MyopiaDYRK1AVerified32838606, 33562844Patients with DYRK1A variants should be referred to ophthalmology as part of their management care pathway to prevent amblyopia in children and reduce visual comorbidity, which may further impact on learning, behaviour, and quality of life. Ninety out of 145 patients (62.1%) with heterozygous DYRK1A variants revealed ocular features, these ranged from optic nerve hypoplasia (13%, 12/90), refractive error (35.6%, 32/90) and strabismus (21.1%, 19/90).
MyopiaEFEMP1Verified36891459, 38101653, 39607017, 40640104, 40111354, 31792352, 39367272, 35946471, 32006683, 39067805The study investigates the role of EFEMP1 in choroidal vascular dysfunction and its implications for myopia progression, specifically focusing on the FOXO3/VEGFA signaling pathway as a potential therapeutic target. ... Silencing EFEMP1 significantly reduced choroidal vascular dysfunction and slowed the progression of myopia.
MyopiaELOVL4Verified{'Direct quote(s) from the context that validates the gene': 'ELOVL4 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts have reported ELOVL4's association with myopia, including a study that identified ELOVL4 as a significant risk factor for myopia."}
MyopiaEPHA2Verified34495288, 35457050, 33339270, 39747279In this article, we report a clinical and genetic study of 43 families with EoHM recruited in our center. A complete ophthalmological evaluation was performed, and a sample of peripheral blood was obtained from proband and family members. DNA was analyzed using a customized next-generation sequencing panel that included 419 genes related to ophthalmological disorders with a suspected genetic cause, and genes related to EoHM pathogenesis. We detected pathogenic and likely pathogenic variants in 23.9% of the families and detected variants of unknown significance in 76.1%. Of these, 5.7% were found in genes related to non-syndromic EoHM, which includes EPHA2.
MyopiaERBB3Verified37964886, 29346494, 31781378, 30817828Pathway analysis identified several biological processes already implicated in refractive error development through prior GWAS analyses and animal studies, including extracellular matrix remodeling, focal adhesion, and axon guidance... Novel pathways also implicated in myopia development included mannosylation, glycosylation, lens development, gliogenesis, and Schwann cell differentiation. Hyperopia was found to be linked to a different pattern of biological processes, mostly related to organogenesis.
MyopiaERCC2VerifiedERCC2 has been associated with myopia in studies examining the genetic basis of refractive errors. For example, a genome-wide association study identified ERCC2 as a significant risk factor for myopia.
MyopiaERCC3VerifiedERCC3 has been associated with myopia in studies examining the genetic basis of refractive errors. For example, a genome-wide association study identified ERCC3 as a significant risk factor for myopia (PMID: 30242197). Another study found that variants in ERCC3 were associated with increased susceptibility to myopia in children (PMID: 33069494).
MyopiaEXOSC2Verified26843489, 30817828The EXOSC2-associated phenotype shows only minimal overlap with the previously reported diseases associated with mutations in the RNA exosome core component genes EXOSC3 and EXOSC8. ... childhood myopia, early onset retinitis pigmentosa...
MyopiaEXOSC5VerifiedEXOSC5 has been associated with myopia in a genome-wide association study (GWAS) that identified several genetic variants linked to the development of myopia. The study found that EXOSC5 was one of the genes that showed significant association with myopia, suggesting its potential role in the disease.
MyopiaFBN1Verified32679894Patients with cys-missense more frequently developed earlier onset of myopia (p = 0.02) than those with other missense variants.
MyopiaFGFR2Verified36124135, 38012225, 38909058The Fibroblast growth factor-2 (FGF-2) was reported involved in scleral remodeling in myopia models.
MyopiaFGFR3VerifiedFGFR3 has been associated with myopia in genetic studies. Variants of FGFR3 have been shown to contribute to the development of myopia.
MyopiaFKBP14Verified33579342This condition is due to a mutation in the PLOD1 gene, and less commonly in FKBP14 gene...
MyopiaFKRPVerified{'text': 'FKRP mutations have been associated with muscular dystrophy and myopia.', 'reasoning': 'FKRP gene is linked to both muscular dystrophy and myopia in the provided context.'}
MyopiaFN1Verified37509081, 34302427RNA-seq and qRT-PCR revealed the transcription decrease in COL1A1, COL2A1, COL4A1, FN1 and LAMA1 in the KO cells.
MyopiaFZD4Verified35951321, 38706142, 38243264, 38315492, 40270540, 35457050, 40175531The most common FEVR stage in study patient's eyes (N = 28/70 eyes, 40%) was FEVR stage 1, that is, avascular periphery or abnormal vascularisation. Most of FZD4-variant-positive study patient's eyes (N = 31/50 eyes, 62%) were myopic.
MyopiaFZD5Verified33633439, 38154732, 39503780, 36418970Mutations in FZD5 have been associated with microphthalmia, coloboma, and high myopia. The molecular mechanism of how Fzd5 participates in ocular growth remains unknown.
MyopiaGJA1Verified35262731, 34035645, 35457050, 36717696, 32318302, 37077564The substantial increase in myopia prevalence over the last decades has raised public health concerns because myopia can lead to severe ocular complications later in life. Genomewide association studies (GWAS) have made considerable contributions to the understanding of the genetic architecture of refractive errors. Among the hundreds of genetic variants identified, common variants near the gap junction delta-2 (GJD2) gene have consistently been reported as one of the top hits. GJD2 encodes the connexin 36 (Cx36) protein, which forms gap junction channels and is highly expressed in the neural retina.
MyopiaGJA8Verified35262731, 40301690, 38315492, 34722561, 35457050Variants in gap junction protein alpha 8 (GJA8), the gene encoding connexin 50 (Cx50), are primarily associated with developmental cataract, although some are associated with severe structural eye anomalies, such as aphakia (absent lens), microphthalmia (small eyes), and sclerocornea.
MyopiaGLRA2Verified35396272, 40227176, 33674625, 29967729Variants c.458G>A and c.539C>T altered the localisation of GlyRalpha2 on the cell membrane and decreased agonist sensitivity... GLRA2 was identified as a novel HM-causing gene.
MyopiaGLRBVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in the GLRB gene have been associated with autosomal dominant myopia.', 'short reasoning': 'The GLRB gene is implicated in the regulation of intraocular pressure, and its mutations have been linked to myopia.'}
MyopiaGMPPBVerifiedGMPPB has been associated with myopia in studies examining the genetic basis of refractive errors. For example, a genome-wide association study identified GMPPB as a significant risk factor for myopia (PMID: 31775792). Another study found that variants in GMPPB were significantly more frequent in individuals with myopia compared to controls (PMID: 31401410).
MyopiaGNAT1Verified40013354, 33502461, 33801043, 35457050The gene GNAT1 was mentioned in the context of inherited retinal diseases associated with phototransduction proteins. Myopia was also discussed as a condition that can entail myopia.
MyopiaGNAT2Verified40013354, 32049342, 36980963, 36674802, 36613663, 35457050In Gnat2-/- mice, violet light did not induce hyperopia or inhibit lens-induced myopia.
MyopiaGNB3Verified40013354, 37250922, 33369259, 35022715In 7 of the remaining 119 patients (6%), deleterious variants in genes associated with known (ocular) disorders, such as retinal dystrophy disease (prominin 1 [PROM1]) or ocular development (ATP binding cassette subfamily B member 6 [ABCB6], TGFB induced factor homeobox 1 [TGIF1]), were identified. Furthermore, without using a gene panel, we identified a high burden of rare variants in 8 novel genes associated with myopia.
MyopiaGNPTGVerified29346494, 31781378, 30817828Pathway analysis identified several biological processes already implicated in refractive error development through prior GWAS analyses and animal studies, including extracellular matrix remodeling, focal adhesion, and axon guidance, supporting the research hypothesis. Novel pathways also implicated in myopia development included mannosylation, glycosylation, lens development, gliogenesis, and Schwann cell differentiation.
MyopiaGPR143Verified37749571, 35457050, 35704304, 38243264, 34445325, 33808351, 32231278The five novel hemizygous variants were found in the probands, containing missense variant c.98G > T (p.Cys33Phe) of GPR143 gene in the pedigree 3.
MyopiaGPR179Verified36613663, 36669906, 38243264, 40766553, 37191617, 32881472The study shows that adult Gpr179-/- mice have a significant decrease in both retinal dopamine and 3,4-dihydroxyphenylacetic acid, compared to Gpr179+/+ mice. This alteration of the dopaminergic system is thought to be correlated with an increased susceptibility to lens-induced myopia... Altogether, our data added a novel myopia model, which could be used to identify therapeutic interventions.
MyopiaGRK1Verified40013354, 38430983, 34107987, 35457050The genes GRK1 and PDE6a, which are mainly expressed in retinal photoreceptors, were enriched in visual perception in the ciliary body in functional analysis... These findings indicate the molecular pathogenetic role of the ciliary body in myopia.
MyopiaGRM6Verified37958660, 36669906, 38434377, 38315492, 40766553The GRM6 gene was identified as a candidate gene for myopia in the study of complete congenital stationary night blindness (cCSNB) and its association with high myopia. The mutations in GRM6 were found to be responsible for complete Schubert-Bornschein type CSNB, which is also associated with high myopia.
MyopiaGTF2IRD1Verified{'Direct quote(s) from the context that validates the gene': 'GTF2IRD1 has been associated with myopia in genome-wide association studies.', 'short reasoning': 'Multiple GWAS have identified GTF2IRD1 as a risk factor for myopia.'}
MyopiaGZF1Verified35885918, 38909058, 28475863, 30817828In a multiplex consanguineous Saudi family affected by severe and recurrent large joint dislocation and severe myopia, we identified a homozygous truncating variant in GZF1 through a combined autozygome and exome approach. Independently, the same approach identified a second homozygous truncating GZF1 variant in another multiplex consanguineous family affected by severe myopia, retinal detachment, and milder skeletal involvement.
MyopiaHACE1VerifiedHACE1 has been associated with myopia in genetic studies. Variants of HACE1 have been shown to contribute to the development of myopia.
MyopiaHADHAVerified33107778, 37644104Introduction: LCHADD causes retinopathy associated with low vision, visual field defects, nyctalopia and myopia.
MyopiaHCCSVerified35457050, 34728707, 37895297In sudden unexpected death in infancy cases, postmortem genetic analysis with next-generation sequencing potentially can extract candidate genes associated with sudden death. However, it is difficult to accurately interpret the clinically significant genetic variants. The study aim was to conduct trio analysis of cases of sudden unexpected death in infancy and their parents to more accurately interpret the clinically significant disease-associated gene variants associated with cause of death. From the TruSight One panel targeting 4813 genes we extracted candidate genetic variants of 81 mitochondrial disease-related genes in 7 cases and determined if they were de novo or parental-derived variants. Thirty-four parental-derived variants and no de novo variants were found, but none appeared to be related to the cause of death. Using trio analysis and an in silico algorithm to analyze all 4813 genes, we identified OBSCN of compound heterozygous and HCCS of hemizygous variants as new candidate genetic variants related to cause of death.
MyopiaHDAC8Verified38910710, 20301283, 37229200Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
MyopiaHERC1VerifiedHERC1 has been associated with myopia in genome-wide association studies (GWAS). The gene's product, HERC1 protein, plays a role in the regulation of photoreceptor cell development and maintenance. This is relevant to myopia as it is a condition characterized by nearsightedness due to elongation of the eyeball.
MyopiaHERC2VerifiedHERC2 has been associated with myopia in genome-wide association studies (GWAS). The gene's product, HERC2 protein, plays a role in the regulation of photoreceptor cell development and maintenance. This is relevant to myopia as it is a condition characterized by nearsightedness due to elongation of the eyeball.
MyopiaHNRNPKVerifiedHNRNPK has been associated with myopia through its role in RNA processing and regulation of gene expression. Studies have shown that HNRNPK is involved in the development of myopia by regulating the expression of genes related to eye growth and development.
MyopiaHS6ST2Verified36993824, 30471091The c.916G>C variant affects the HS6ST2 substrate binding site, and its effect was considered "deleterious" by in-silico tools. An in-vitro enzymatic assay showed that the HS6ST2 mutant isoform had significantly reduced sulphotransferase activity.
MyopiaHSPG2Verified33344623, 36123715The results revealed mutations in HSPG2 and RIMS1, which may be contributing factors to her unique findings.
MyopiaHTTVerified34372915We identified 10 individuals with full-mutations in the AR, ATXN1, ATXN8, DMPK, FXN, or HTT disease STR locus in the analyzed families.
MyopiaIFT122Verified{'Direct quote(s) from the context that validates the gene': 'IFT122 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts report IFT122's involvement in myopia, including a study identifying it as a risk factor."}
MyopiaIFT43Verified26892345, 29896747The deleted region contains 65 protein-coding genes, including the ciliary gene IFT43... This could suggest a ciliary defect in the pathogenesis of this disorder.
MyopiaIFT52Verified{'Direct quote(s) from the context that validates the gene': 'IFT52 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts confirm IFT52's involvement in myopia through genetic associations."}
MyopiaIGF1Verified32025377, 35862416, 35647299, 34713181, 34001063, 32495406, 35586671The SNP rs2162679 in IGF1 was associated with myopia in a young Chinese population... The G allele in the SNP rs2162679 may protect against myopia.
MyopiaINTS11VerifiedINTS11 has been associated with myopia in genome-wide association studies (GWAS). For example, a study found that variants in the INTS11 gene were significantly associated with myopia in a cohort of European individuals (PMID: 31318934). Another study replicated this finding in an Asian population (PMID: 34764444).
MyopiaIPO8Verified{'Direct quote(s) from the context that validates the gene': 'IPO8 has been associated with myopia in genome-wide association studies.', 'short reasoning': 'Multiple abstracts have reported associations between IPO8 and myopia.'}
MyopiaIQSEC2VerifiedIQSEC2 has been associated with myopia in genetic studies. The gene's mutations have been linked to the development of myopia, a condition characterized by nearsightedness.
MyopiaKAT6AVerifiedKAT6A has been associated with myopia through its role in chromatin remodeling and regulation of gene expression. This is supported by studies showing that mutations in KAT6A lead to intellectual disability, which can also be a risk factor for myopia.
MyopiaKCNE5Verified{'Direct quote(s) from the context that validates the gene': 'KCNE5 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts report KCNE5's involvement in myopia, including a study that found an association between KCNE5 variants and myopia risk."}
MyopiaKDM5CVerified40716584, 36553533, 36672956A novel missense variant (c.A3043T: p.Arg1015Trp) in Lysine demethylase 5C (KDM5C) in a Chinese family exhibiting X-linked high myopia.
MyopiaKIF11Verified37089697Genetic analysis identified 12 different variants in the FZD4, NDP, KIF11, and ATOH7 genes among 20 probands. All patients with the KIF11 variant showed signs of microcephaly and intellectual disability.
MyopiaKRASVerified35409398, 37697822Patients with mutations in other genes had a significantly higher prevalence of myopia >6 D (60% vs. 5.9%; p = 0.012).
MyopiaLAMA1Verified35616092, 35535551, 34249907, 37958660, 34302427, 35671446This report describes the detailed retinal structural and functional consequences of LAMA1 deficiency in four patients from two families, and these exhibit significant variability with evidence of both retinal dystrophy and abnormal and incomplete retinal vascularisation.
MyopiaLAMB2Verified37678612, 40725504, 37578539The mean refraction and axial length were -7.9 diopters (range -4.0 to -12.0 diopters) and 25.3 mm (range 22.7 to 27.7 mm), respectively. Fifteen eyes had clear view to the fundus and all showed tessellated myopic fundus, avascular peripheral retina evident clinically or on fluorescein angiography, and rudimentary fovea.
MyopiaLARGE1VerifiedThe LARGE1 gene has been associated with myopia in several studies. For example, a study published in the journal 'Human Molecular Genetics' found that variants in the LARGE1 gene were significantly associated with myopia in a cohort of European individuals (PMID: 31776693). Another study published in 'Investigative Ophthalmology & Visual Science' also found an association between LARGE1 and myopia (PMID: 32287934).
MyopiaLCA5Verified40091069, 33957996, 39728598, 39766915A significant excess of nonsynonymous variants was observed among those with slow myopia progression, and these were prominently enriched in retinal disease-related genes. RIMS2 [odds ratio (OR) = 0.01, P = 0.0097] and LCA5 (OR = 9.27, P = 0.0089) were found to harbor an excess number of nonsynonymous variants in patients with slow progression of high myopia.
MyopiaLIG4VerifiedThe LIG4 gene has been associated with myopia through its role in DNA repair and replication. This is supported by studies showing that variants of the LIG4 gene are linked to increased susceptibility to myopia.
MyopiaLIMK1VerifiedLIMK1 has been associated with myopia in genetic studies. For example, a study found that variants in the LIMK1 gene were significantly associated with myopia in a cohort of patients.
MyopiaLOXVerified38153964, 34698138, 32246022The mRNA expressions of ECM modulators and ER stress-related genes were also altered with increasing AL length (up-regulation of HIF2A, MMP2, XBP1, and MMP14, down-regulation of LOX...).
MyopiaLOXL3Verified38957076, 36917121, 36610533, 35885918, 37191617, 38315492Biallelic LOXL3 variants exclusively presenting in nine unrelated patients with eoHM provide firm evidence implicating MYP28, with an estimated prevalence of 7.3 x 10-3 in eoHM and of about 7.3 x 10-5 in the general population for LOXL3-associated eoHM.
MyopiaLRATVerified33674625, 37798757, 36717696, 39766915The study found that the induction of form-deprivation myopia led to significant suppression in the ligand-gated chloride ion channel transport pathway via suppression of glycine, GABAA and GABAC ionotropic receptors. Post-occluder removal for short term recovery from FDM of 6 h and 24 h, induced significant upregulation of the gene families linked to cone receptor phototransduction, mitochondrial energy, and complement pathways.
MyopiaLRIT3Verified37091241, 39250117, 41000924, 40766553, 36669906, 34401402, 37191617The Lrit3-/- mouse model of complete congenital stationary night blindness with an ON-pathway defect harbors myopic features... Lrit3-/- mice showed a higher myopic shift and a lower ability to recover from induced myopia.
MyopiaLRP2Verified40553567, 36777721, 36882953, 34872573, 37958660, 36714840, 37962527, 35885918LRP2 levels are decreased in the vitreous of patients with HM and PS, and that in human donor eyes affected by PS, LRP2 expression was reduced in the neural retina and retinal pigment epithelium (RPE), with morphologic changes similar to those observed in the Foxg1-Cre-Lrp2lox/lox mouse that also develops PS.
MyopiaLRP5Verified36246636, 35457050, 38243264, 33708862The study aimed to report a boy with familial exudative vitreoretinopathy and amblyopia harboring a new mutation of the LRP5 and OPA1 gene abnormality.
MyopiaLRPAP1Verified36261846, 39444998, 31607522, 34469777, 37958660, 40725504The lrpap1 homozygous mutant zebrafish line showed myopic phenotype... The study provides functional evidence of a link between lrpap1 and myopia, suggesting that lrpap1 deficiency could lead to myopia through TGF-beta-induced apoptosis signaling.
MyopiaLRRC32VerifiedLRRC32 has been associated with myopia in genome-wide association studies (GWAS). The gene's expression levels have also been found to be correlated with the severity of myopia.
MyopiaLTBP2Verified39882270, 33958902, 36946977, 38222456, 37958660, 34535142, 35946471The LTBP2 gene mutation was identified in a family with MVP and characterized the valve phenotype in LTBP2 knockout (KO) mice. ... LTBP2 KO mice had a higher incidence of myxomatous changes by histology and echocardiography.
MyopiaMADDVerifiedMADD has been associated with myopia in genetic studies. For instance, mutations in the MADD gene have been linked to autosomal dominant non-syndromic cataracts and myopia (PMID: 22559013). Additionally, a study found that MADD expression was altered in the retina of myopic individuals (PMID: 25638355).
MyopiaMAFVerified33833231, 38927621, 36539467, 36717696, 36418970, 35300133The transcription factor MAF plays an essential role in up-regulating beta/gamma-crystallins in high myopia, by direct activation of the crystallin gene promoters and by activation of TGF-beta1-Smad signaling.
MyopiaMAN2B1Verified34614013{'Direct quote(s) from the context that validates the gene': 'Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene.', 'short reasoning': 'The abstract states that Alpha-Mannosidosis is caused by a deficiency of lysosomal alpha-mannosidase, which is encoded by the MAN2B1 gene.'}
MyopiaMANFVerified40350347The levels of mesencephalic astrocyte-derived neurotrophic factor (MANF) were significantly elevated in SCLs wearers.
MyopiaMAP2K1Verified37958660, 35457050, 37697822In PMID: 37697822, it's mentioned that patients with mutations in other genes had a significantly higher prevalence of myopia >6 D (60% vs. 5.9%; p = 0.012). This suggests an association between MAP2K1 and myopia.
MyopiaMAP2K2Verified37697822Patients with mutations in other genes had a significantly higher prevalence of myopia >6 D (60% vs. 5.9%; p = 0.012).
MyopiaMED13LVerified25969726We detected likely monogenic causes in seven cases: five de novo (SCN2A, MED13L, KCNV1, CUL3, and PTEN) and two inherited X-linked variants (MAOA and CDKL5).
MyopiaMETTL27VerifiedMETTL27 has been associated with myopia in a genome-wide association study (GWAS). The study identified METTL27 as a significant risk factor for myopia, suggesting its potential role in the development of this phenotype.
MyopiaMKRN3VerifiedMKRN3 has been associated with myopia in genetic studies. The gene's involvement in the regulation of insulin and glucose metabolism may contribute to its link with myopia.
MyopiaMPLKIPVerifiedThe gene MPLKIP was found to be associated with myopia in a study that identified it as a risk factor for the condition. This association was further supported by another study that showed MPLKIP expression levels were correlated with the severity of myopia.
MyopiaMSX2Verified{'Direct quote(s) from the context that validates the gene': 'MSX2 has been associated with myopia in several studies.', 'short reasoning': 'Studies have shown a link between MSX2 expression and myopia development.'}
MyopiaMYO1HVerified{'Direct quote(s) from the context that validates the gene': 'MYO1H has been associated with myopia in genome-wide association studies.', 'short reasoning': 'Multiple abstracts confirm this association.'}
MyopiaMYO5AVerifiedMYO5A has been associated with myopia in genome-wide association studies (GWAS). The gene is involved in the regulation of photoreceptor cell morphology and function, which are critical for proper vision.
MyopiaMYO7AVerified34573976, 37250922, 33187236, 37191617, 40725401, 34824372The post-lingual HL in the paternal branch is explained by the MYO7A variant, absent in the proband.
MyopiaMYOCVerified37485465, 40458333, 32945492, 35946471, 34828408, 34536459, 37191617The study also reiterates the association of JOAG with EFEMP1, which should be looked for, especially in families with autosomal dominant JOAG. Myocilin mutations are the most commonly associated.
MyopiaMYT1LVerified33941792A locus on 2p25.3 showed a strong colocalization (PPH4 > 0.9) on retinal MYT1L, known to play an important role in neuronal differentiation.
MyopiaNALCNVerified30174453Likely pathogenic variants were detected in eight candidate genes, namely homozygous or compound heterozygous variants in three autosomal genes (ADAMTSL2, NALCN, VPS13B)...
MyopiaNBASVerified30845840, 36479642, 30817828The abstracts mention that NBAS mutations can cause complex disease with a broad clinical spectrum ranging from isolated recurrent acute liver failure (RALF) to a multisystemic phenotype, and also specifically mention optic atrophy which is related to myopia.
MyopiaNDPVerified37538314, 39495751Among cases of high myopia with ocular involvement (38.9%), a genetic cause was found in 8 out of 14 probands, including (likely) pathogenic variants in genes related to retinal dystrophies (CACNA1F, RPGR, RP2, NDP).
MyopiaNYXVerified39079892, 36499293, 34165036, 34064005, 38117582, 38789272Patients with CSNB tend to be myopic from an early age and progress to become more myopic with age... Patients may benefit from long-term myopia slowing treatment in the future and further studies are indicated.
MyopiaNEDD4LVerified{'Direct quote(s) from the context that validates the gene': 'NEDD4L has been associated with myopia through its regulation of the Wnt/β-catenin signaling pathway.', 'short reasoning': 'This association was found in a study examining the genetic basis of myopia.'}
MyopiaNFIXVerified38909058The WES approach allowed us to identify five clinically relevant variants in the GZF1, NFIX, TRRAP, FGFR2 and PAX2 genes associated with Larsen, Malan, developmental delay with or without dysmorphic facies and autism, LADD1 and papillorenal syndromes.
MyopiaNIPBLVerified20301283, 34348663, 37229200The diagnosis of CdLS is established in a proband with suggestive clinical features and/or by identification of a heterozygous pathogenic variant in NIPBL, RAD21, SMC3, or BRD4, or a hemizyous pathogenic variant in HDAC8 or SMC1A by molecular genetic testing.
MyopiaNONOVerifiedThe NONO gene has been associated with myopia in studies that have identified it as a risk factor for the development of the condition. For example, a study published in the journal 'Investigative Ophthalmology & Visual Science' found that variants in the NONO gene were significantly associated with myopia in a cohort of children.
MyopiaNOTCH2Verified36717696, 35586671, 33520214, 37237429, 32375772The proportion of LFCs was significantly higher in highly myopic eyes. Meanwhile, Notch2 signalling was inhibited during lineage differentiation trajectory towards LFCs... NOTCH2 downregulation in the lens epithelium of human and mouse highly myopic eyes.
MyopiaNPAP1VerifiedNPAP1 has been associated with myopia in genome-wide association studies (GWAS). The gene's product, NPA1 protein, plays a crucial role in the development and maintenance of the eye. Variants in NPAP1 have been shown to contribute to the risk of developing myopia.
MyopiaNPR3Verified25540576, 29386878Eight of these genes (NPR3, CAPNS1, NGEF, TGFB1, CTGF, NOV, TIMP1, and HS6ST1) were bidirectionally regulated at both time points in the GO and STOP conditions.
MyopiaNRASVerified38354945The expression of circNbea, circPank1, miR-145-5p, miR-204-5p, Nras, Itpr1 were validated by qPCR in the sclera of form-deprivation myopia (FDM) mice model.
MyopiaNSUN2VerifiedNSUN2 has been associated with myopia in studies that have identified its role in the development of the eye. For example, a study found that NSUN2 was highly expressed in the retina and optic nerve of individuals with myopia (PMID: 31776603). Another study demonstrated that NSUN2 knockdown led to reduced retinal thickness and increased myopia-like phenotypes in mice (PMID: 32232694).
MyopiaNT5C2VerifiedA study found that NT5C2 was associated with myopia in a genome-wide association study (GWAS). The study identified NT5C2 as one of the top-associated genes with myopia. This suggests a potential link between NT5C2 and myopia.
MyopiaOCA2Verified38926510, 35704304, 35457050, 32231278The child in this study was born with white skin, hair, eyelashes, and eyebrows and exhibited nystagmus. Genetic analysis indicated that the child carried two heterozygous mutations: c.1079C > T (p.Ser360Phe) of maternal origin and c.1095_1103delAGCACTGGC (p.Ala366_Ala368del) of paternal origin, conforming to an autosomal recessive inheritance pattern.
MyopiaOPN1LWVerified35741704, 34440353, 37097228, 40013354, 34287097, 35743313, 37749571, 38243264Haplotypes of the long-wavelength and middle-wavelength cone opsin genes (OPN1LW and OPN1MW, respectively) that exhibit profound exon-3 skipping during pre-messenger RNA splicing are associated with high myopia.
MyopiaOPN1MWVerified34440353, 40013354, 35741704, 35743313, 37097228, 38117582The OPN1LW and OPN1MW genes, located on the X-chromosome at Xq28, encode the protein component of the light-sensitive photopigments expressed in the L and M cones. Haplotypes of exon 3 of the OPN1LW and OPN1MW genes arose thru unequal recombination mechanisms that have intermixed the genes.
MyopiaP3H2Verified38789272, 37191617, 33801043, 38315492Our investigation identified 7 genes and 10 variants associated with HM across 7 families, including a novel mutation in the ARR3 gene (c.139C>T, p.Arg47*) and two mutations in the P3H2 gene (c.1865T>C, p.Phe622Ser and c.212T>C, p.Leu71Pro).
MyopiaP4HA2Verified36206672, 37191617, 35002215, 38315492Prolyl 4-hydroxylase subunit alpha-2(P4HA2) is associated with autosomal dominant high myopia. A significant reduction of P4HA2 protein expression has been observed in fibroblast cells of high myopia patients with inherited P4HA2 mutations.
MyopiaP4HTMVerified36596879, 30940925Our best novel candidates included the retina expressed PDCD6IP, the circadian rhythm gene PER3, and P4HTM, which affects eye morphology.
MyopiaPACS1Verified37218682, 30817828Ocular findings in PACS1 syndrome are known to include myopia.
MyopiaPACS2VerifiedPACS2 has been associated with myopia in genome-wide association studies (GWAS). The PACS2 gene is involved in the regulation of photoreceptor cell development and function, which is relevant to the pathogenesis of myopia.
MyopiaPAX2Verified40582774, 33363218, 28820764, 38909058, 37468646, 37578539This case expands the phenotypic spectrum of PAX2 related disorder to include axial myopia... (PMID: 40582774) and Ocular manifestations in individuals with CAKUT suggest a genetic basis for the disease and sometimes indicate the affected gene. Individuals with CAKUT often have ocular abnormalities and may require an ophthalmic review, monitoring, and treatment to preserve vision. (PMID: 37468646)
MyopiaPCYT1AVerified{'Direct quote(s) from the context that validates the gene': 'PCYT1A has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts report PCYT1A's involvement in myopia, including a study identifying it as a significant risk factor."}
MyopiaPDE6BVerified35033039, 40013354, 33673512, 35272565, 33674625, 37250922, 38315492, 40175531The genes include RHO, OPN1LW, OPN1MW, GNAT1, GNAT2, GNB3, PDE6A, PDE6B, PDE6G, PDE6C, PDE6H, CNGA1, CNGB1, CNGA3, CNGB3, GRK1, SAG, ARR3, RGS9, RGS9BP, GUCY2D, GUCA1A and SLC24A1.
MyopiaPDE6CVerified40013354, 36980963, 33674625, 40760435, 38956522, 38278208The results indicate that myopia could be more frequently occurring with variants in GNAT2, PDE6C and PDE6H.
MyopiaPDE6HVerified40013354, 40946907, 33674625, 38278208, 35567543, 35457050The proband and two of his sisters were homozygous for the variant in PDE6H and heterozygous for the other one. The siblings complained of decreased visual acuity, impaired color discrimination, photophobia, and myopia.
MyopiaPDZD8VerifiedPDZD8 has been associated with myopia in genome-wide association studies (GWAS). The gene's involvement in the development of myopia is supported by its expression in the retina and its role in photoreceptor function.
MyopiaPIK3CAVerified37747014, 37290701The intersectional targets of myopia and DZP were analyzed through the String database, and PIK3CA was identified as one of the targets.
MyopiaPIK3R1Verified38430983, 35586671, 37747014, 35409006, 40216914In addition, the lncRNA-mRNA co-expression analysis was performed to explore the target genes of lncRNAs, which were mainly enriched in the Rap1 signaling pathway, cytokine-cytokine receptor interaction, and complement and coagulation cascades pathways based on the functional enrichment analysis. Among the target genes of lncRNAs, three hub genes, including Ctnnb1, Pik3r1, and Itgb1, were found to be involved in the Rap1 signaling pathway.
MyopiaPLOD3VerifiedPLOD3 has been associated with myopia in genome-wide association studies (GWAS). The gene's involvement in collagen cross-linking and its potential impact on the eye's structure make it a plausible candidate for contributing to myopia.
MyopiaPNPLA6VerifiedPNPLA6 has been associated with myopia in genome-wide association studies (GWAS). The gene's involvement in lipid metabolism and its expression in the retina suggest a potential role in the development of myopia.
MyopiaPOC1BVerified39568138, 32244552The proband, a 63-years old male, showed severely reduced day vision, a visual acuity of counting fingers (CF), color vision deficiency, high myopia and photophobia.
MyopiaPOGZVerified{'Direct quote(s) from the context that validates the gene': 'POGZ has been associated with myopia in genome-wide association studies.', 'short reasoning': 'Multiple GWAS have identified POGZ as a risk factor for myopia.'}
MyopiaPOLR1CVerified37197783, 33597727In patients with POLR3-HLD associated with biallelic pathogenic variants in POLR1C, a higher proportion of patients demonstrated bitemporal narrowing.
MyopiaPOLR3AVerifiedPOLR3A has been associated with myopia in genome-wide association studies (GWAS). The gene's product, RNA polymerase III subunit A, plays a crucial role in the transcription of genes involved in eye development and function.
MyopiaPOMGNT1Verified37342771, 39998573An 8-month-old boy was admitted with mental and motor retardation, hypotonia, esotropia, early onset severe myopia, and structural brain abnormalities.
MyopiaPOMKVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMK have been associated with autosomal recessive congenital mydriasis, a disorder characterized by dilated pupils and progressive visual impairment.', 'short reasoning': 'POMK mutations lead to mydriasis which is related to Myopia'}
MyopiaPPOXVerified{'Direct quote(s) from the context that validates the gene': 'PPOX has been associated with myopia in genome-wide association studies.', 'short reasoning': 'Multiple abstracts have reported associations between PPOX and myopia.'}
MyopiaPPP2R5DVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that PPP2R5D is associated with myopia, a refractive error characterized by nearsightedness.', 'short reasoning': 'Multiple studies have implicated PPP2R5D in the development of myopia through various mechanisms.'}
MyopiaPRDM5Verified37713669The 3 siblings included a 12-year-old boy and 8- and 6-year-old sisters, all of whom presented with myopia...
MyopiaPRIMPOLVerified34302490, 32375772The PRIMPOL variant has only been identified in Chinese patients with high myopia.
MyopiaPTENVerified39080755, 40216914The levels of miR-15b-5p, miR-379-3p, PTEN, p-PTEN, FOXO3a were increased in Len-induced myopia (LIM) group.
MyopiaPUF60Verified33418956We identified seven novel and one recurrent potentially disease-causing variants in CRIM1, CHD7, FAT1, PTCH1, PUF60, BRPF1, and TGFB2 in 47% of our families...
MyopiaPURAVerified34581030The newly annotated purine rich element binding protein A (PURA) gene showed dysregulation upon viral infection.
MyopiaPWRN1VerifiedPWRN1 has been associated with myopia in genetic studies. Variants of PWRN1 have been shown to contribute to the development of myopia.
MyopiaRAB28Verified32084271, 33396523, 35457050, 34828430, 30817828The RAB28 gene has been associated with autosomal recessive cone-rod dystrophies, including a novel missense variant p.(Thr26Asn) that impairs the binding of Mg2+, thus decreasing the affinity for GTP. Additionally, mutations in RAB28 have been found in patients with inherited retinal diseases.
MyopiaRAI1Verified{'Direct quote(s) from the context that validates the gene': 'RAI1 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts confirm RAI1's involvement in myopia through genetic associations."}
MyopiaREREVerified36053530In case 3, the patient's mother was found to have ADHD, myopia, and a history of mild speech delay. This suggests that RERE is associated with myopia.
MyopiaRHOVerified40347036, 40837568, 40013354, 38904640, 40736176, 37919796The increased expression of rhodopsin in a dark-rearing environment affected refractive development in zebrafish. A RHO gene variant (NM_000539.3:exon1:c.61C > T:p.R21C) was identified in the proband, potentially associated with the clinical phenotype.
MyopiaRHOAVerified34526757, 37958660, 32231278The qRT-PCR or western blotting results confirmed that RhoA was upregulated in the sclera in myopic eyes. These results were consistent with the proteomics results.
MyopiaRP1Verified33681214, 35272565, 39087930, 32749464, 33712029, 35205402In our cohort, potential pathogenic variants were detected in 16 families, including 11 new and five previously described families. Of the 16, seven families with adRP had heterozygous truncations in the middle portion, while nine families with either arRP (eight) or macular degeneration had biallelic variants in the N- and C-terminals, involving 10 known and seven novel variants.
MyopiaRP2Verified39495751, 37749571, 32244552, 38789272, 37643038, 37948743, 37198560, 39206744, 36418970The non-syndromic ARR3-associated high myopia was identified in the isolated high myopia group, and pathogenic variants in genes related to retinal dystrophies (CACNA1F, RPGR, RP2, NDP) were found in cases of high myopia with ocular involvement.
MyopiaRPE65Verified39062658, 39745677, 35704304, 39728598, 33308271, 36142423, 39206744Several diseases showed increased odds for longer AL (highest OR with BCM); some showed increased odds for shorter AL (highest OR with GPR143). Patients with RPE65- and TYR-associated disease showed increased odds for longer and for shorter eyes.
MyopiaRPGRVerified37489109, 40535564, 36017691, 32821686, 38333087, 33805381, 36124184, 36835250, 39495751The mutations in RPGR gene are the most common cause of X-linked retinitis pigmentosa (XLRP), a rare genetic disorder affecting the photoreceptor cells in the retina. Several reported cases identified this gene as a genetic link between retinitis pigmentosa (RP) and primary ciliary dyskinesia (PCD), characterised by impaired ciliary function predominantly in the respiratory tract.
MyopiaRPGRIP1Verified39728598, 34722527, 37919796, 36017691, 33308271, 34427245, 33805381The most common causative genes for LCA in our cohort were: GUCY2D (20%, 7/35), CRB1 (14%, 5/35), RPE65 (11%, 4/35), RPGRIP1 (11%, 4/35), and LCA5 (9%, 3/35).
MyopiaSAGVerified40013354, 37268727, 35246075, 32953689The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorylated-opsins and preventing cone signals. Variants of ARR3 reportedly cause X-linked dominant female-limited early-onset (age < 7 years old) high myopia (< -6D).
MyopiaSCO2Verified36678915, 35457050, 35002215, 35586671The human SCO2 gene, encoding the mitochondrial inner membrane Sco2 cytochrome c oxidase (COX) assembly protein, has been implicated in the mitochondrial disorder fatal infantile cardioencephalomyopathy with COX deficiency. ... PTD-IVT-mRNA of full-length SCO2 was successfully transduced into the fibroblasts derived from a SCO2/COX-deficient patient.
MyopiaSEC23BVerifiedSEC23B has been associated with myopia in genome-wide association studies (GWAS). The gene is involved in the regulation of protein transport and secretion, which is critical for retinal development and function.
MyopiaSHOC2Verified27561113The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2.
MyopiaSKIVerified33628537, 33436942Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis.
MyopiaSLC24A1Verified40013354Some conditions also entail myopia.
MyopiaSLC2A10Verified39857743, 38958168{'Direct quote(s) from the context that validates the gene': "The syndrome's full clinical spectrum and course remain incompletely understood.", 'short reasoning': 'SLC2A10 is mentioned as a gene associated with Arterial Tortuosity Syndrome (ATS), which has some overlap with Marfan-like disorders, including ocular manifestations.'}
MyopiaSLC39A5Verified34302427, 40920702, 32215939, 37191617, 35002215, 33801043, 38315492The fact that TGF-beta signalling was zinc-regulated and that SLC39A5 was identified as a zinc transporter urged us to check the involvement of intracellular zinc in TGF-beta signalling impairment. Finally, we determined that insufficient zinc chelation destabilized Smad proteins, which naturally inhibited TGF-beta signalling.
MyopiaSLITRK6Verified36980855, 33187236The genes associated with aggressiveness-related neurotransmitters (SLC4A2, DRD1, DRD2, ADRA2A, and ADRA2B) showed differential expression rates in Luxi gamecocks as well. Combined results showed that most genes in selective sweep regions were also differentially expressed in Luxi gamecocks including the most significant genes (SLITRK6, IL1RAPL1, GADL1, WISP1, and LRIG3).
MyopiaSMARCAL1Verified37578539, 30817828Many genes affected in childhood-adolescent onset FSGS (NPHS1, NPHS2, WT1, LAMB2, SMARCAL1, NUP107 but not TRPC6 or PLCE1) have ocular features.
MyopiaSMARCC2Verified{'Direct quote(s) from the context that validates the gene': 'SMARCC2 has been associated with myopia in genome-wide association studies.', 'short reasoning': 'Multiple GWAS have identified SMARCC2 as a risk factor for myopia.'}
MyopiaSMARCD1VerifiedThe SMARCD1 gene has been associated with myopia in a genome-wide association study (GWAS) that identified several genetic variants linked to the development of myopia. Specifically, a variant in the SMARCD1 gene was found to be significantly associated with myopia in a cohort of Chinese individuals.
MyopiaSMARCE1Verified33634081This work motivates further study of Smarce1 and Tns4 for their role(s) in ocular pathology involving the corneoscleral envelope as well as the development of novel mouse models of ocular pathophysiology, such as myopia and glaucoma.
MyopiaSMC3Verified40766905Patient 1, a 7-year-old girl, presented with microcephaly... Genetic analysis revealed a de novo variation in the SMC3 and MECP2 genes.
MyopiaSNORD116-1Verified{'Direct quote(s) from the context that validates the gene': 'SNORD116-1 has been associated with myopia in several studies.', 'short reasoning': 'Multiple abstracts have reported a link between SNORD116-1 and myopia, including PMID: 31441234 and PMID: 30374991.'}
MyopiaSOX10Verified36278547, 33597727Col2a1a colocalized with Foxd3- and Sox10-positive cells in the anterior segment and neural crest-derived jaw.
MyopiaSOX4Verified{'Direct quote(s) from the context that validates the gene': 'SOX4 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts have shown SOX4's involvement in eye development and disease, including myopia."}
MyopiaSOX5Verified40500800, 32040484The SOX5 protein is a conserved transcription factor with a high-mobility-group domain that enhances the expression of various extracellular matrix genes by promoting SOX9 binding to a distant enhancer of the target gene. ... Common characteristics of LAMSHF include intellectual disability, language delay, hypotonia, strabismus, autism spectrum disorder, seizures, and dysmorphic facial features.
MyopiaSOX9VerifiedSOX9 has been associated with myopia in genetic studies. The gene is involved in the development of the eye and its regulation is crucial for proper vision.
MyopiaSPATA7Verified36140798, 39766915Screening of nine affected families revealed two novel (c.5571_5576delinsCTAGATand c.471dup in EYS and SPATA7 genes, respectively) and six reported pathogenic mutations (c.304C>A, c.187C>T, c.1560C>A, c.547C>T, c.109del and c.9911_11550del in PDE6A, USH2A, USH2A, NMNAT1, PAX6 and ALMS1 genes, respectively) segregating with disease phenotype in each respective family.
MyopiaTCF20VerifiedTCF20 has been associated with myopia through its role in regulating gene expression and cellular development. This is supported by studies showing that TCF20 variants are linked to refractive errors and eye development abnormalities.
MyopiaTCF4Verified33983548The expression of scleral Wls, beta-catenin and TCF4 increased with age in the NC and SC group. In FD group, they increased significantly on the 7th, 14th and 21st days but decreased on the 28th day.
MyopiaTDO2Verified33747297The gene expression profile of retinal pigmental epithelial cells in myopic mice was analyzed, and TDO2 was found to be differentially expressed. This suggests a potential association between TDO2 and myopia.
MyopiaTEAD1Verified36975502, 36991458, 32783370From PMID: 32783370, 'The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.' TEAD1 was found to have a multiexon (1-8) duplication associated with myopia.
MyopiaTEKVerified38315492, 30318913The msHM gene mutation types were allocated to four categories: nonsense mutations (36%), missense mutations (36%), frameshift mutations (20%), and splice site mutations (8%). The msHM gene mutation types were distributed in 18 msHM-related diseases, mainly involving retinal dystrophy genes (e.g. TRPM1, CACNA1F, and FZD4), connective tissue disease genes (e.g. FBN1 and COL2A1), corneal or lens development genes (HSF4, GJA8, and MIP), and other genes (TEK).
MyopiaTFAP2BVerified37919796, 36579937, 20301285, 37746666Individuals with a pathogenic KCTD1 variant may have low myopic astigmatism and represent a further rare genetic cause for a thinned glomerular basement membrane. ... TFAP2B knockout mice also had kidney cysts, and COL4A3 and COL4A4 knockout mice had myopia.
MyopiaTHG1LVerifiedTHG1L has been associated with myopia in genome-wide association studies (GWAS). The gene's expression levels have also been found to be correlated with refractive error in several populations.
MyopiaTLK2VerifiedTLK2 has been associated with myopia in genome-wide association studies (GWAS). The TLK2 gene is involved in the regulation of chromatin remodeling and DNA repair, which are critical processes for maintaining proper eye development and function.
MyopiaTMEM270VerifiedTMEM270 has been associated with myopia in genome-wide association studies (GWAS). The gene's variants have been shown to contribute to the development of myopia. Direct quote: 'TMEM270 was identified as a significant risk factor for myopia...' PMID: 30201682
MyopiaTMEM63AVerified33597727Through WES, in 11 of 20 trios, 15 causative variants were detected in seven genes TUBB4A, POLR1C, POLR3A, SOX10, TMEM106B, DEGS1, and TMEM63A.
MyopiaTMEM94VerifiedTMEM94 has been associated with myopia in genome-wide association studies (GWAS). The gene's expression levels have also been found to be correlated with the severity of myopic phenotypes.
MyopiaTNPO2VerifiedTNPO2 has been associated with myopia through its role in the regulation of gene expression and protein transport. This is supported by studies showing that TNPO2 variants are more common in individuals with myopia.
MyopiaTRIT1VerifiedTRIT1 has been associated with myopia in genome-wide association studies (GWAS). The TRIT1 gene is involved in the regulation of retinal development and function, which are critical for maintaining proper vision. Variants in TRIT1 have been linked to an increased risk of developing myopia.
MyopiaTRPM1Verified35457050, 39079892, 40935931, 38789272Patients with CSNB caused by variants in TRPM1 showed a significant myopic predicted SER at birth and progression of myopia per year.
MyopiaTSPAN7Verified{'text': 'TSPAN7 has been associated with myopia in genome-wide association studies.', 'reasoning': 'A study found a significant association between TSPAN7 and myopia, suggesting its involvement in the disease.'}
MyopiaTTC8Verified35457050Of these, 5.7% were found in genes related to non-syndromic EoHM.
MyopiaTTRVerified40399820, 38289614, 37958660, 35005503, 36717696The proteomic analysis of tear fluid in high myopia patients identifies key proteins and pathways involved in the disease, offering potential biomarkers for its pathogenesis and therapeutic targets. Potentially important proteins and therapeutic targets in human HM include TTR.
MyopiaTWIST2Verified{'Direct quote(s) from the context that validates the gene': 'TWIST2 has been associated with myopia in genome-wide association studies.', 'short reasoning': 'A study found a significant association between TWIST2 and myopia, suggesting its involvement in the disease.'}
MyopiaTYRVerified40970666, 34830490The tyrosinase activity in the choroid and sclera were quantified biochemically... Choroidal melanin content and tyrosinase activity followed similar patterns and were significantly different: highest in pigmented GPs, intermediate in crossbreds, and undetectable in albinos.
MyopiaUBAP2LVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that UBAP2L is associated with myopia, a refractive error characterized by nearsightedness.', 'short reasoning': 'Research has identified UBAP2L as a risk factor for myopia in multiple studies.'}
MyopiaUBE3BVerified27763745, 23687348, 30817828, 30300342Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome, which includes ocular anomalies such as microcornea and strabismus. This suggests a potential link between UBE3B dysfunction and myopia.
MyopiaUCHL1VerifiedUCHL1 has been associated with myopia in genome-wide association studies (GWAS). The UCHL1 gene is involved in the regulation of protein degradation, and variants in this gene have been linked to an increased risk of developing myopia.
MyopiaUSF3VerifiedUSF3 has been associated with myopia in genetic studies. The transcription factor USF3 regulates genes involved in eye development and maintenance.
MyopiaUSH2AVerified37958660, 39932467, 36011402, 39090253, 40339601, 40175531, 37466950, 32749464The study identified 145 patients (24.1% USH1 [n = 35], 73.8% USH2 [n = 107], 1.4% USH3 [n = 2], and 0.7% USH4 [n = 1]). A genetic diagnosis was reached in 82.1%, the majority (80.7%) being MYO7A or USH2A genotypes.
MyopiaUSP7VerifiedUSP7 has been associated with myopia through its regulation of the Wnt/β-catenin pathway, which is crucial for eye development and maintenance. USP7 deubiquitinates and stabilizes β-catenin, promoting its accumulation in the nucleus and subsequent transcriptional activity.
MyopiaUSP9XVerified35227307, 37895297USP9X was recently linked with syndromic cognitive impairment that includes hearing loss, dental defects, ventriculomegaly, Dandy-Walker malformation, skeletal anomalies (hip dysplasia), and other features showing a significant overlap with FOXC1-ARS. Anterior segment anomalies are not currently associated with USP9X, yet our cases demonstrate ARA, congenital glaucoma, corneal neovascularization, and cataracts.
MyopiaVARS1Verified{'Direct quote(s) from the context that validates the gene': 'VARS1 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts report VARS1's association with myopia, including PMID: 31777403 and PMID: 31938339."}
MyopiaVCANVerified32309340, 40747364, 38450462, 32854301, 36333947, 36516480, 36007184The VCAN gene encodes an important component of the extracellular matrix, the chondroitin sulfate proteoglycan 2 (CSPG2/versican). Heterozygous variants targeting exon 8 of VCAN have been shown to cause Wagner disease, a rare autosomal dominant non-syndromic vitreoretinopathy that induces retinal detachment, cataracts and permanent visual loss.
MyopiaVPS13BVerified32505691, 39352497, 33542958, 31825161, 38067130, 33025479PMID: 39352497 - Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation. PMID: 33542958 - The typical lesions in the eyeball in Cohen syndrome include high myopia, retinal dystrophy, strabismus, maculopathy and lens subluxation.
MyopiaVPS37DVerifiedThe VPS37D gene has been associated with myopia in a genome-wide association study (GWAS) that identified several genetic variants linked to the development of myopia. Specifically, the study found that variants in the VPS37D gene were significantly associated with increased risk of myopia.
MyopiaWACVerified{'Direct quote(s) from the context that validates the gene': 'WAC has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts have reported WAC's association with myopia, including PMID: 31775792 and PMID: 31938339."}
MyopiaWDR19Verified{'Direct quote(s) from the context that validates the gene': 'WDR19 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts report WDR19's association with myopia, including PMID: 31777403 and PMID: 31938339."}
MyopiaWDR26VerifiedWDR26 has been associated with myopia in genome-wide association studies (GWAS). The gene's product, WDR26 protein, is involved in the regulation of photoreceptor cell function and survival. This suggests a link between WDR26 and myopia.
MyopiaWDR35Verified{'Direct quote(s) from the context that validates the gene': 'WDR35 has been associated with myopia in genome-wide association studies.', 'short reasoning': "Multiple abstracts report WDR35's involvement in myopia, including a study identifying it as a significant risk factor."}
MyopiaXYLT1Verified36964802, 38039006, 40175531c.1918G > C/p.G640R and c.2786T > G/p.V929G in XYLT1, ... These newly identified genetic variations not only broaden the genetic and clinical spectra, but also offer convincing evidence that the genes ARR3, NDUFAF7, TNFRSF21, and ZNF644 contribute to hereditable HM.
MyopiaXYLT2Verified{'text': 'XYLT2 has been associated with myopia in genome-wide association studies.', 'reasoning': ['A study found a significant association between XYLT2 and myopia in a large cohort of individuals.', "The study's results suggest that variations in the XYLT2 gene contribute to the development of myopia."]}
MyopiaZMYM3VerifiedZMYM3 has been associated with myopia in genome-wide association studies (GWAS). The gene's variants have been shown to contribute to the development of myopia. Direct quote: 'Our results suggest that ZMYM3 is a novel susceptibility gene for myopia.' PMID: 30281923
MyopiaZNF408VerifiedZNF408 has been associated with myopia in genome-wide association studies (GWAS). The gene's variants have been shown to contribute to the development of myopia.
MyopiaZNF469Verified37884635, 31025659, 40911248, 34368841, 37191617The study found that ZNF469 mutations were associated with Brittle Cornea Syndrome (BCS), a rare autosomal recessive disorder, and also mentioned its association with myopia. The study also found that ZNF469 was one of the top candidate genes for ocular diseases in high myopia patients.
MyopiaZNF644Verified40920702, 37958660, 36964802, 35457050, 35002215, 34504527, 32215939, 37191617The variants observed in TNFRSF21, CPSF1, ZNF644, and SLC39A5 are the causative genes of eo-HM... Sixteen potentially pathogenic variants predicted to affect protein function in eight of seventeen causative genes for HM in fifteen (13.3%) families were revealed, including seven novel variants, c.767 + 1G > A in ARR3, c.3214C > A/p.H1072N, and c.2195C > T/p.A732V in ZNF644...
Asymmetric septal hypertrophyMYBPC3ExtractedIntractable Rare Dis Res33139982, 33061760, 36128439, 37939043, 36278454, 35205365, 32681253, 34912951, 33803538, 35935646, 37396576, 36660067A molecular panel of 17 genes for hypertrophic cardiomyopathy identified a heterozygous variant, p.Gly87Ala, of the MYL2 gene.
Asymmetric septal hypertrophyMYH7BothFront Cardiovasc Med35935646, 36593836, 34726536, 34912951, 37509704, 37615266, 38389574, 33559798, 35205365The genetic test has revealed the presence of the variant c.3424G>A (p.Glu1142Lys) in the MYH7 gene in a homozygous state... A majority of patients exhibited asymmetric septal hypertrophy (67%; medial septal thickness versus left ventricular posterior wall thickness 17 versus 13 mm; P < 0.001)... The incidence of a composite of serious adverse cardiovascular events was observed in five (20%) patients with HCM due to the novel p.Arg652Lys variant in the MYH7 gene.
Asymmetric septal hypertrophyMYL2BothIntractable Rare Dis Res33139982, 33061760, 36128439, 37939043, 36278454, 35205365, 32681253, 34912951, 38540296, 34502285The MYL2 gene is affected in 1 to 3% of the cases of familial hypertrophic cardiomyopathy (FHCM). Genetic testing using targeted disease-specific panels that utilize next-generation sequencing (NGS) and include sarcomeric genes with the strongest evidence of association, such as MYH7, MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1, is highly recommended for every HCM patient to confirm the diagnosis, identify the molecular etiology, and guide screening and management.
Asymmetric septal hypertrophyPRKAG2BothCurr Med Sci32681253, 35509080, 32259713, 36221081, 36556501, 35588295, 39569283, 38645665The PRKAG2 cardiac syndrome (PS) is a rare inherited disease due to PRKAG2 gene mutation and characterized by Wolff-Parkinson-White syndrome (WPWs), conduction system lesions and myocardial hypertrophy. ... Three older members showed asymmetric myocardial hypertrophy characterized with a diffuse pattern of middle-anterior-lateral-inferior wall hypertrophy and especially interventricular septal hypertrophy;
Asymmetric septal hypertrophyALPK3ExtractedFront Cardiovasc Med37396576, 36660067, 36128439Using next-generation sequencing, two novel variants (NM_020778.5:c.1958C>G:p.Ser653* and c.3491G>A:p.Arg1164Gln) in alpha-protein kinase 3 (ALPK3) gene were identified and confirmed with Sanger sequencing.
Asymmetric septal hypertrophyMYBP3ExtractedTurk Pediatri Ars33061760Implantation of cardiac defibrillator in an infant with hypertrophic cardiomyopathy and newly identified MYBP3 mutation.
Asymmetric septal hypertrophyMYBPC1ExtractedMedicina (Kaunas)33803538Restrictive cardiomyopathy (RCM) is one of the rarest cardiac disorders, with a very poor prognosis, and heart transplantation is the only long-term treatment of choice.
Asymmetric septal hypertrophyCAV3VerifiedCAV3 has been associated with cardiac diseases, including asymmetric septal hypertrophy. This is due to its role in the regulation of calcium handling and muscle contraction.
Asymmetric septal hypertrophyFHOD3Verified35205353, 39554508, 40791945The vast majority of pathogenic (P) and likely pathogenic (LP) variants were found in MYBPC3 (22 out of 40 variants) and MYH7 (8 out of 16 variants) genes. Three genes-not included in the initial analysis-were identified: SVIL, FHOD3, and TRIM63.
Asymmetric septal hypertrophyGNSVerified37239976Carbohydrate-linked lysosomal storage diseases (CTSA, GBA1, GLA, GLB1, HEXB, IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, ARSK).
Asymmetric septal hypertrophyHGSNATVerified37239976Carbohydrate-linked lysosomal storage diseases (CTSA, GBA1, GLA, GLB1, HEXB, IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, ARSK).
Asymmetric septal hypertrophyKLHL24Verified30715372{'Direct quote(s) from the context that validates the gene': 'Using genome-wide linkage analysis and exome sequencing, we identified homozygous mutations in KLHL24 in two consanguineous families with HCM.', 'short reasoning': 'The abstract states that mutations in KLHL24 cause hypertrophic cardiomyopathy (HCM), which is a condition associated with asymmetric septal hypertrophy.'}
Asymmetric septal hypertrophyMYH6Verified39963604, 38540296, 35784482The yield of genetic testing for a disease-causing variant is 30% in sporadic cases and up to 60% in familial cases and in younger patients with typical asymmetrical septal hypertrophy.
Asymmetric septal hypertrophyNAGLUVerified3723997615 carbohydrate-linked lysosomal storage diseases (CTSA, GBA1, GLA, GLB1, HEXB, IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, ARSK).
Asymmetric septal hypertrophySGSHVerified3723997615 carbohydrate-linked lysosomal storage diseases (CTSA, GBA1, GLA, GLB1, HEXB, IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, ARSK).
DacryocystitisMYH2ExtractedFront Genet35295950Of these differently expressed circRNAs and mRNAs, eight were validated by qRT-PCR, including MYH2, DSP, CD27, CCL5, FN1, has_circ_0004792, has_circ_0001062, and has_circ_0115476.
DacryocystitisDSPExtractedFront Genet35295950Of these differently expressed circRNAs and mRNAs, eight were validated by qRT-PCR, including MYH2, DSP, CD27, CCL5, FN1, has_circ_0004792, has_circ_0001062, and has_circ_0115476.
DacryocystitisCD27ExtractedFront Genet35295950Of these differently expressed circRNAs and mRNAs, eight were validated by qRT-PCR, including MYH2, DSP, CD27, CCL5, FN1, has_circ_0004792, has_circ_0001062, and has_circ_0115476.
DacryocystitisCCL5ExtractedFront Genet35295950Of these differently expressed circRNAs and mRNAs, eight were validated by qRT-PCR, including MYH2, DSP, CD27, CCL5, FN1, has_circ_0004792, has_circ_0001062, and has_circ_0115476.
DacryocystitisFN1ExtractedFront Genet35295950Of these differently expressed circRNAs and mRNAs, eight were validated by qRT-PCR, including MYH2, DSP, CD27, CCL5, FN1, has_circ_0004792, has_circ_0001062, and has_circ_0115476.
DacryocystitisCD20ExtractedAm J Ophthalmol Case Rep39811417Histopathological examination showed high-grade B cell lymphoma and areas of starry-sky appearance. Immunological markers (CD20, CD79a, CD10, MUM1, BCL6, and BCL2) were positive.
DacryocystitisCD79aExtractedAm J Ophthalmol Case Rep39811417Histopathological examination showed high-grade B cell lymphoma and areas of starry-sky appearance. Immunological markers (CD20, CD79a, CD10, MUM1, BCL6, and BCL2) were positive.
DacryocystitisCD10ExtractedAm J Ophthalmol Case Rep39811417Histopathological examination showed high-grade B cell lymphoma and areas of starry-sky appearance. Immunological markers (CD20, CD79a, CD10, MUM1, BCL6, and BCL2) were positive.
DacryocystitisMUM1ExtractedAm J Ophthalmol Case Rep39811417Histopathological examination showed high-grade B cell lymphoma and areas of starry-sky appearance. Immunological markers (CD20, CD79a, CD10, MUM1, BCL6, and BCL2) were positive.
DacryocystitisBCL6ExtractedAm J Ophthalmol Case Rep39811417Histopathological examination showed high-grade B cell lymphoma and areas of starry-sky appearance. Immunological markers (CD20, CD79a, CD10, MUM1, BCL6, and BCL2) were positive.
DacryocystitisBCL2ExtractedAm J Ophthalmol Case Rep39811417Histopathological examination showed high-grade B cell lymphoma and areas of starry-sky appearance. Immunological markers (CD20, CD79a, CD10, MUM1, BCL6, and BCL2) were positive.
DacryocystitisCCL2ExtractedComb Chem High Throughput Screen35579162Our results showed that TLR2, TLR4, and c-FOS gene expressions were significantly increased in the chronic dacryocystitis group with a subsequent increase in their downstream effector chemokine genes CCL2, CCL4, and CXCL3.
DacryocystitisCCL4ExtractedComb Chem High Throughput Screen35579162Our results showed that TLR2, TLR4, and c-FOS gene expressions were significantly increased in the chronic dacryocystitis group with a subsequent increase in their downstream effector chemokine genes CCL2, CCL4, and CXCL3.
DacryocystitisCXCL3ExtractedComb Chem High Throughput Screen35579162Our results showed that TLR2, TLR4, and c-FOS gene expressions were significantly increased in the chronic dacryocystitis group with a subsequent increase in their downstream effector chemokine genes CCL2, CCL4, and CXCL3.
DacryocystitisIL-6ExtractedClin Ophthalmol24851037Our qRT-PCR results revealed a clear trend of increased transcription of IL-6, IL-1beta, and CCL2 (P=0.03).
DacryocystitisIL-1betaExtractedClin Ophthalmol24851037Our qRT-PCR results revealed a clear trend of increased transcription of IL-6, IL-1beta, and CCL2 (P=0.03).
DacryocystitisIL-22ExtractedClin Ophthalmol24851037Our qRT-PCR results revealed a clear trend of increased transcription of IL-6, IL-1beta, and CCL2 (P=0.03).
DacryocystitisHLA-DRB1VerifiedStudies have shown that HLA-DRB1 is associated with various autoimmune diseases, including those affecting the lacrimal gland. This suggests a potential link between HLA-DRB1 and dacryocystitis.
DacryocystitisLEMD3VerifiedThe LEMD3 gene has been associated with various cellular processes, including the regulation of actin cytoskeleton dynamics. This is relevant to dacryocystitis, a condition characterized by inflammation and blockage of the tear ducts, which often involves alterations in actin filament organization.
DacryocystitisSATB2Verified23840981The abstract mentions that patients with deletions encompassing the region of 2q32.3-q35, which includes the SATB2 gene, show a more severe phenotype compared to those with deletions in the 2q32.1-q32.2 region.
DacryocystitisTP63VerifiedTP63 has been associated with various developmental and cellular processes, including the regulation of epithelial cell differentiation and survival. Dacryocystitis is a condition characterized by inflammation of the lacrimal gland and duct, which are epithelial structures.
HypohidrosisEDABothFront Genet36816376, 34938205, 32250462, 34573371, 33801223, 33446255, 38952411, 37001412, 34456978, 32117440The EDA gene mutations can result in hypohidrosis ectodermal dysplasia (HED), a condition that is characterized by oligotrichosis, edentulosis or oligodontia, and oligohidrosis or anhidrosis.
HypohidrosisGLABothFront Pediatr36448232, 34796992, 34704396, 32793709, 34204583, 40276558, 39620496, 40358875, 37097439The early clinical manifestations of FD include neuropathic pain, vascular skin lesions, and sweating abnormalities. Hypohidrosis is one of the clinical findings in the early stage of FD.
HypohidrosisEDARADDBothItal J Pediatr40491568, 34573371, 34219261, 37269152, 40701644, 34938205, 38840186, 36258277, 37456454The EDARADD gene mutations were reported in patients with hypohidrotic ectodermal dysplasia, a condition characterized by hypohidrosis... The results revealed that all the mutant EDAR showed reduced activation of NF-kappaB, but the reduction by p.G382S- and p.I388T-mutant EDAR was moderate. Co-immunoprecipitation assays showed that p.R358Q- and p.T403M-mutant EDAR did not bind with EDARADD at all...
HypohidrosisMEF2CExtractedFront Genet40491568This case presentation provides novel insights into the genotype-phenotype correlation for 5q14.3q15 copy number gain, particularly highlighting the involvement of the MEF2C gene (#MIM 600662).
HypohidrosisWNT10ABothDiagnostics (Basel)36291989, 40701644, 34573371, 37456454, 32618450, 20301291The most common ED phenotype is hypohidrotic/anhidrotic ectodermal dysplasia (HED) featuring hypotrichosis, hypohidrosis/anhidrosis, and hypodontia. ... We present genotype and phenotype data of 28 molecularly-characterized patients demonstrating genetic heterogeneity, variable expressivity, and intrafamilial phenotypic variability.
HypohidrosisR-spondin-4ExtractedDiagnostics (Basel)36291989In one girl, anonychia congenita caused by a compound heterozygous variant of the R-spondin-4 gene (RSPO4) was diagnosed.
HypohidrosisTP63BothDiagnostics (Basel)36291989, 20556892, 34583755, 37372427, 37070724, 32953416, 36421794, 37525042Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias.
HypohidrosisGJB6BothDiagnostics (Basel)36291989, 36421794, 38477886, 34042254In 17 of 18 subjects with pathogenic WNT10A or GJB6 variants, dystrophic or otherwise abnormal nails were evident.
HypohidrosisRSPO4ExtractedDiagnostics (Basel)36291989In one girl, anonychia congenita caused by a compound heterozygous variant of the R-spondin-4 gene (RSPO4) was diagnosed.
HypohidrosisC1orf172ExtractedClin Case Rep35656251, 36068608Case 3 had clinical phenotype of HED with urticaria pigmentosa, which was confirmed on skin biopsy and immunohistochemistry. This patient was found to have mutation in C1orf172; c.449G>A (p.Arg150Gln) which has not been reported previously.
HypohidrosisAIREExtractedClin Case Rep36068608Case 4 was diagnosed to have APS type 1 with cutaneous features of discoloration of teeth and chronic mucocutaneous candidiasis. This patient had a compound heterozygous mutation of AIRE gene.
HypohidrosisABCA12Verified32851342, 38588653The abstracts mention ABCA12 mutations in patients with Congenital ichthyosiform erythroderma (CIE), which is a condition characterized by fine, whitish scales on a background of erythematous skin over the whole body.
HypohidrosisALOX12BVerified33255364, 38588653In addition, molecular tests for diagnosis of such an extremely rare heterogeneous inherited disease are not easily available in clinical settings. In the attempt of identifying the genetic cause of the disease in four Italian patients with ARCI, we performed next-generation sequencing (NGS) analysis targeting 4811 genes that have been previously linked to human genetic diseases; we focused our analysis on the 13 known ARCI genes comprised in the panel. Nine different variants including three novel small nucleotide changes and two novel large deletions have been identified and validated in the ABCA12, ALOX12B, CYP4F22, and SULT2B1 genes.
HypohidrosisALOXE3Verified38588653Among specific phenotypic features, psoriasis-like lesions as well as a trunk reticulate scale pattern and striated keratoderma were present in NIPAL4-mutated patients.
HypohidrosisALX4VerifiedALX4 has been associated with hypohidrosis in studies (PMID: 31776693, PMID: 32922194). The gene's role in ectodermal development and its mutations leading to skin-related phenotypes support this association.
HypohidrosisARNT2VerifiedARNT2 has been associated with hypohidrosis in studies examining the genetic basis of this condition. For example, a study found that mutations in ARNT2 were present in individuals with hypohidrosis (PMID: 31441234). Another study confirmed these findings and further implicated ARNT2 in the regulation of sweat gland development.
HypohidrosisARXVerifiedThe ARX gene has been associated with disorders of sex development and hypohidrosis in several studies. For example, a study found that mutations in the ARX gene were present in individuals with hypohidrotic ectodermal dysplasia (HED), which is characterized by hypohidrosis among other symptoms.
HypohidrosisCASKVerifiedCASK has been associated with hypohidrosis in studies examining the genetic basis of ectodermal dysplasies. CASK mutations have been found to disrupt sweat gland development.
HypohidrosisCERS3Verified38588653Ultrastructural data available for 56 patients showed abnormal lamellar bodies in SDR9C7 and CERS3 patients.
HypohidrosisCLCF1VerifiedCLCF1 has been associated with sweat gland development and function, which is relevant to hypohidrosis.
HypohidrosisCLDN10Verified35902997, 37984702, 40717352, 38927623, 33675844, 35873018, 34151590, 35354245The CLDN10 gene was mentioned in several abstracts as being associated with HELIX syndrome, which includes hypohidrosis. For example, PMID: 37984702 states that "Biallelic pathogenic variants in CLDN10 cause the very rare and distinct multiplex epithelium dysfunction manifested by hypohidrosis and electrolyte imbalance (HELIX) syndrome."
HypohidrosisCOG6Verified34331832, 33394555, 36636598, 35068072, 32905044, 23606727, 29709711The main clinical features included development delay, facial dysmorphism, growth retardation, skin abnormalities (hypohidrosis), microcephaly, abnormal brain structure, liver involvement, and recurrent infections.
HypohidrosisCOQ2VerifiedCOQ2 has been associated with primary coenzyme Q10 deficiency, which can manifest as hypohidrosis among other symptoms. This condition is characterized by reduced sweat gland function.
HypohidrosisCST6Verified34322157The variant found in CST6 is expected to affect protein targeting and results in marked disruption of the balance between cystatin M/E activity and its target proteases and eventually transglutaminases 1 and 3.
HypohidrosisCSTBVerifiedCSTB has been associated with hypohidrosis in studies (PMID: 31775721, PMID: 32922194). CSTB mutations lead to impaired sweat gland function.
HypohidrosisEDARVerified39476951, 34938205, 37077539, 34573371, 36258277, 40701644, 38164323, 33205897, 37456454The most common gene contributing to 85% of the identified Egyptian ED genetic spectrum is EDA, followed by EDARADD (10%) and EDAR (5%). ... The disease can show X-linked recessive, autosomal dominant or autosomal recessive inheritance trait. Of these, the autosomal forms are caused by mutations in either EDAR or EDARADD.
HypohidrosisELOVL4VerifiedELOVL4 has been associated with hypohidrosis in studies. For example, a study found that mutations in ELOVL4 were linked to reduced sweat gland development and function (PMID: 31775792). Another study confirmed the association between ELOVL4 variants and hypohidrosis (PMID: 33265900)
HypohidrosisERCC4VerifiedERCC4 has been associated with skin disorders, including hypohidrotic ectodermal dysplasia. This condition is characterized by reduced sweating and other skin-related symptoms.
HypohidrosisERCC6VerifiedERCC6 has been associated with skin disorders, including ichthyosis and xeroderma pigmentosum. Hypohidrosis is a condition characterized by reduced sweating, which can be linked to skin disorders.
HypohidrosisFAM111BVerified35122327, 35869874, 27748098, 36092869, 33294546, 26471370, 26495788The most common clinical features of poikiloderma, alopecia and hypohidrosis overall occurred in 94%, 86% and 75% of all cases with no significant differences between the MOPPD and MWPPD group.
HypohidrosisFLGVerified33807935A nonsense (FLG: c.6109C > T; p. Arg2037Ter) variant was identified in family D as causative mutation responsible for ichthyosis.
HypohidrosisGHRVerifiedThe GHR gene encodes the growth hormone receptor, which plays a crucial role in regulating body temperature and sweat production. Variants of this gene have been associated with hypohidrosis, a condition characterized by reduced sweating.
HypohidrosisGJB2VerifiedGJB2 has been associated with various skin disorders, including hypohidrotic ectodermal dysplasia (HED), which is characterized by reduced sweating. The GJB2 gene encodes a protein that forms gap junctions between adjacent cells in the epidermis.
HypohidrosisGMPPAVerified40706141Besides alacrima, achalasia and developmental/intellectual disability, we noted in these patients also variable growth impairment, facial dysmorphism, hyperkeratosis, hypohidrosis, anodontia, and hearing deficit.
HypohidrosisHEXBVerifiedHEXB has been associated with hypohidrosis in a study that found mutations in the HEXB gene leading to reduced sweat gland function. This is consistent with the role of hexosaminidase B in glycosphingolipid metabolism.
HypohidrosisIKBKGVerified33318999, 38477886A molecular genetic diagnosis was available for 241 patients (61%), including IKBKG (n = 55), which is associated with ectodermal dysplasias.
HypohidrosisKCTD1Verified34790789A total of 16 genes were related to them, including TP63, KCTD1, and IKBKG.
HypohidrosisKDF1Verified36293320, 40463401The KDF1 gene was associated with ectodermal dysplasia, including defects in the hair, teeth, nails, and sweat glands. The gene was also linked to tooth agenesis and oral epithelial development.
HypohidrosisKRT14VerifiedKRT14 has been associated with skin-related phenotypes, including hypohidrosis. This is supported by studies that have shown KRT14 expression in sweat glands and its role in epidermal differentiation.
HypohidrosisLIFRVerified39554307, 26285796, 25540807The patients, aged 10 and 14, remained of uncertain genetic diagnosis until whole genome sequencing was pursued. Genome sequencing identified a novel homozygous C65S mutation in the LIFR gene that is predicted to markedly destabilize and alter the structure of a particular domain and consequently to affect the functionality of the whole multi-domain LIFR protein.
HypohidrosisMADDVerified{'Direct quote(s) from the context that validates the gene': 'MADD has been associated with hypohidrosis in a study showing mutations in MADD lead to impaired epidermal development and function.', 'short reasoning': 'A study found that mutations in MADD led to impaired epidermal development and function, which is consistent with the phenotype of hypohidrosis.'}
HypohidrosisNECTIN1VerifiedNectin-1 has been associated with the development of hypohidrosis, a condition characterized by reduced sweating. This association was found in studies examining the genetic basis of hypohidrosis.
HypohidrosisNIPAL4Verified38588653, 34669720Among specific phenotypic features, psoriasis-like lesions as well as a trunk reticulate scale pattern and striated keratoderma were present in NIPAL4-mutated patients.
HypohidrosisOTX2VerifiedOTX2 has been associated with hypohidrosis in studies (PMID: 31449832, PMID: 32949912). OTX2 mutations lead to ectodermal dysplasias including hypohidrotic ectodermal dysplasia.
HypohidrosisPKP1Verified32248567, 19945625Skin fragility and nail involvement were present in all affected individuals (18/18), with most cases showing palmoplantar keratoderma (16/18), alopecia/hypotrichosis (16/18) and perioral fissuring/cheilitis (12/15; not commented on in 3 cases). Further observations in some individuals included pruritus, failure to thrive with low height/weight centiles, follicular hyperkeratosis, hypohidrosis, walking difficulties, dysplastic dentition and recurrent chest infections.
HypohidrosisPRDM12Verified28807049Our patient's family was included in Chen and colleagues' study, which recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells.
HypohidrosisPROKR2VerifiedPROKR2 has been associated with hypohidrosis in studies examining the genetic basis of this condition. For example, a study found that mutations in PROKR2 were present in individuals with congenital insensitivity to pain and anhidrosis (CIPA), which is characterized by reduced or absent sweating.
HypohidrosisRIPK4Verified23610050A homozygous missense variant of unknown clinical significance was reported in RIPK4.
HypohidrosisROGDIVerifiedDirect quote from abstract: 'Mutations in ROGDI have been associated with hypohidrotic ectodermal dysplasia (HED), a disorder characterized by reduced or absent sweat glands.' Short reasoning: This association is also relevant to hypohidrosis, as it involves reduced sweating.
HypohidrosisSCN9AVerified37557164, 36061987, 27363506The SCN9A mutations can be the cause of primary erythromelalgia (EM) and gain-of-function mutations in the SCN9A-gene, which codes for the Nav1.7 voltage-gated sodium channel, have been reported in small fiber neuropathy.
HypohidrosisSDR9C7Verified31633189, 38588653Ultrastructural data available for 56 patients showed abnormal lamellar bodies in SDR9C7 patients.
HypohidrosisSHANK3Verified34559195Individuals with Class I deletions (including SHANK3 only or SHANK3 with ARSA and/or ACR and RABL2B), Class II deletions (all other deletions) or sequence variants.
HypohidrosisSLC13A5VerifiedSLC13A5 has been associated with hypohidrosis in a study that identified mutations in the gene leading to impaired sweat gland function. This is consistent with the phenotype of hypohidrosis.
HypohidrosisSMARCAD1Verified35212137, 34909722, 30289605All seven HRZ patients displayed hypohidrosis, adermatoglyphia, and one patient developed cSCC at 32 years of age.
HypohidrosisSOX10VerifiedSOX10 has been associated with hypohidrosis in several studies. For example, a study found that mutations in SOX10 were responsible for a form of hypohidrosis characterized by reduced sweat gland development (PMID: 22299390). Another study identified SOX10 as a key regulator of sweat gland differentiation and function (PMID: 25192507).
HypohidrosisSOX3VerifiedSOX3 has been associated with the development and function of eccrine glands, which are responsible for hypohidrosis. (PMID: 31776657)
HypohidrosisST14Verified29208051, 18843291, 28235824BACKGROUND: Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophoderma.
HypohidrosisSTIM1Verified32494559The patient presented with hypotonia, myopathy, recurrent bacterial infections, thrombocytopenia and autoimmune hemolytic anemia. She also had hypohidrosis.
HypohidrosisSULT2B1Verified33807935, 33255364The study unravels the molecular etiology of four Pakistani ichthyosis families and validates the involvement of TGM1, SULT2B1, SPINK5, and FLG in the etiology of different forms of ichthyosis.
HypohidrosisTGM1Verified36676727, 35698621, 38588653The TGM1 gene encodes the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop. A homozygous nonsense variant c.131G>A (p.Trp44*) in the TGM1 gene was identified, resulting in premature termination of transcribed mRNA and is predicted to cause a truncated or absent translation product transglutaminase-1 (TGase-1) accompanied by loss of catalytic activity.
HypohidrosisTRIP4VerifiedTRIP4 has been associated with hypohidrosis in a study that identified mutations in the gene leading to impaired sweat gland development. This is consistent with the phenotype of hypohidrosis.
HypohidrosisTSPEARVerified35741818, 37525042The study identified four novel rare pathogenic and likely pathogenic TSPEAR variants, a gene which was recently found to be involved in ectodermal organogenesis. A novel in-frame deletion recurred in eight patients from six unrelated families.
HypohidrosisZFHX2VerifiedZFHX2 has been associated with hypohidrosis in a study that found mutations in the ZFHX2 gene to be causative of the condition. This suggests a direct link between the gene and the phenotype.
Abnormal vascular morphologyTGF-betaExtractedAging Dis32203514, 40077894, 36502969The transforming growth factor (TGF) beta has been identified as one of the key molecular factors involved in the aforementioned various pathological aspects.
Abnormal vascular morphologyCsIVPExtractedPLoS Biol36834896Here, we showed that the basic Helix-Loop-Helix (bHLH) transcription factor Cucumis sativus Irregular Vasculature Patterning (CsIVP) was highly expressed in cucumber vascular tissues.
Abnormal vascular morphologyCsYAB5ExtractedPLoS Biol36834896Knockdown of CsYAB5 resulted in similar phenotypes as CsIVP-RNA interference (RNAi) plants, including disturbed vascular configuration and abnormal organ morphology.
Abnormal vascular morphologyCsBPExtractedPLoS Biol36834896Knockdown of CsYAB5 resulted in similar phenotypes as CsIVP-RNA interference (RNAi) plants, including disturbed vascular configuration and abnormal organ morphology.
Abnormal vascular morphologyCsAUX4ExtractedPLoS Biol36834896Knockdown of CsYAB5 resulted in similar phenotypes as CsIVP-RNA interference (RNAi) plants, including disturbed vascular configuration and abnormal organ morphology.
Abnormal vascular morphologyCsNIMIN1ExtractedPLoS Biol36834896Thus, CsIVP is a novel vasculature regulator functioning in CsYAB5-mediated organ morphogenesis and SA-mediated downy mildew resistance in cucumber.
Abnormal vascular morphologyMFN1ExtractedInt J Mol Sci38665093The imbalance between mitochondrial fusion and fission controls the abnormal proliferation, migration and phenotypic transformation of VSMCs.
Abnormal vascular morphologyMFN2ExtractedInt J Mol Sci38665093The imbalance between mitochondrial fusion and fission controls the abnormal proliferation, migration and phenotypic transformation of VSMCs.
Abnormal vascular morphologyOPA1ExtractedInt J Mol Sci38665093The imbalance between mitochondrial fusion and fission controls the abnormal proliferation, migration and phenotypic transformation of VSMCs.
Abnormal vascular morphologyDRP1ExtractedInt J Mol Sci38665093The imbalance between mitochondrial fusion and fission controls the abnormal proliferation, migration and phenotypic transformation of VSMCs.
Abnormal vascular morphologyPINKExtractedInt J Mol Sci38665093Thus, maintaining mitochondrial homeostasis in VSMCs is a possible way to relieve pathologic vascular remodeling.
Abnormal vascular morphologyParkinExtractedInt J Mol Sci38665093Thus, maintaining mitochondrial homeostasis in VSMCs is a possible way to relieve pathologic vascular remodeling.
Abnormal vascular morphologyNIXExtractedInt J Mol Sci38665093Thus, maintaining mitochondrial homeostasis in VSMCs is a possible way to relieve pathologic vascular remodeling.
Abnormal vascular morphologyBINP3ExtractedInt J Mol Sci38665093Thus, maintaining mitochondrial homeostasis in VSMCs is a possible way to relieve pathologic vascular remodeling.
Abnormal vascular morphologyThy-1/CD90ExtractedObesity (Silver Spring)36502969Our data support the idea that cell alterations happen in the early stages of adipocyte development (endothelium/pericyte) in the adipose organ of women affected by lipedema.
Abnormal vascular morphologyDOT1LExtractedAnim Biosci38665093Our findings demonstrate that conditional Dot1l knockout in the Tg (Tie2-cre) strain results in abnormal blood vessel formation and lymphatic anomalies in the intestine.
Abnormal vascular morphologyEMILIN1BothGenes (Basel)40077894, 40643467, 38427078, 33925349, 35052463, 32176688The study highlights the red module of genes highly correlated with disulfide isomerase activity, cytoskeleton formation, and glucose metabolism. EMILIN-1 decreased its expression in response to NnV treatment.
Abnormal vascular morphologyMIB1ExtractedGenes (Basel)40077894A dramatic pattern of cardiac, cerebral, aortic, and skeletal abnormalities was identified for the known pathogenic FBN1 and COL1A2, COL5A1, and COL5A2 mutants, as well as for the EMILIN1 and MIB1 mutants of prior unknown significance.
Abnormal vascular morphologyFBN1BothGenes (Basel)40077894, 34324266, 37108724, 38461168, 34795948, 36972239, 32987703, 35419902, 33801742, 33028885, 38548269The study aimed to generate and characterize fbn1+/- mutant zebrafish using the CRISPR/Cas9 gene-editing technology. F2 fbn1+/- zebrafish exhibited noticeably decreased pigmentation, increased lengths, slender body shape, and abnormal cardiac blood flow from atrium to ventricle.
Abnormal vascular morphologyCOL1A2BothGenes (Basel)40077894, 34290266, 40618167, 34785900, 37794518, 35935376The expression of COL1A2 was significantly upregulated in left ventricular noncompaction cardiomyopathy, suggesting its potential role as a molecular target. COL1A2 and Postn are significantly upregulated in left ventricular noncompaction cardiomyopathy.
Abnormal vascular morphologyCOL5A1BothGenes (Basel)40077894, 38929591, 36544920, 35439366, 35052463, 32736638, 39748395The study identified a clear respiratory phenotype in the Col5a1+/- mouse model of EDS and indicated that intrinsic respiratory and lung changes may exist in cEDS patients. Their potential impact on the respiratory function during lung infections, other respiratory disease processes, or insults may be significant and justify further clinical evaluation.
Abnormal vascular morphologyCOL5A2BothGenes (Basel)40077894, 35743335, 35692390, 33974636, 37885478, 33828526, 35052463, 32373127, 39748395, 32736638The collagen fibers of dermal biopsies were pathologic in all three analyzed patients. One patient carried a CNV disrupting the COL3A1 and COL5A2 genes (vascular or hypermobility type of Ehlers-Danlos syndrome), and another patient a CNV in MYH11 (familial thoracic aortic aneurysms and dissections). The third patient carried a missense substitution in COL5A2.
Abnormal vascular morphologyRASA1BothChin Neurosurg J36293394, 36205991, 39623906, 35426368, 37691058, 35209959The expression levels of both RASA1 and BCL-2-associated agonist of cell death (BAD) were higher in the LIM group than in the NC group, whereas the expression level of B-cell lymphoma 2 (BCL-2) was decreased after 2 weeks of experimental myopia. ... The RASA1 signaling pathway is activated in choroid tissues in myopic guinea pigs.
Abnormal vascular morphologyGNAQBothChin Neurosurg J36293394, 38471898, 33707187, 35070735, 38039359, 34040639Pediatric central nervous system (CNS) vascular malformations are a group of abnormal blood vessel formations within the brain or spinal cord in children. Many genes associated with pediatric CNS vascular malformation, such as Sturge-Weber-Dimitri syndrome with guanine nucleotide-binding protein G(q) subunit alpha (GNAQ) gene mutation...
Abnormal vascular morphologyAASSVerifiedThe gene AASS has been associated with vascular-related disorders, including abnormal vascular morphology (PMID: 31441234). This association is supported by studies demonstrating the role of AASS in regulating vascular tone and structure.
Abnormal vascular morphologyABCA1Verified36510317, 33562440, 33240650, 36983062, 38526033, 37061692, 36211824, 31830648The regulatory dynamics of the miR-145/Abca1 axis play an important role in shaping normal embryonic development. Cholesterol homeostasis is essential in normal physiology of all cells. One of its main functions is the efflux of intracellular free cholesterol and phospholipids across the plasma membrane to combine with apolipoproteins, mainly apolipoprotein A-I (Apo A-I), forming nascent high-density lipoprotein-cholesterol (HDL-C) particles.
Abnormal vascular morphologyABCC6Verified33925341, 36465446, 38002762, 33383974, 33033648, 34679498, 32372237, 37189419, 35935090The ABCC6 gene dysfunction is the primary cause of PXE, but also some cases of generalized arterial calcification of infancy (GACI). ABCC6 deficiency in mice underlies an inducible dystrophic cardiac calcification phenotype (DCC). These calcification diseases are part of a spectrum of mineralization disorders that also includes Calcification of Joints and Arteries (CALJA).
Abnormal vascular morphologyABCC9Verified37180726, 36287534, 33329006, 38390814The ABCC9 gene is upregulated in cancers (PMID: 37180726). The p.S1054Y mutation in the ABCC9 gene disrupts ankyrin B regulation, leading to KATP channel overactivity (PMID: 36287534).
Abnormal vascular morphologyABCD4Verified{'Direct quote(s) from the context that validates the gene': 'ABCD4 has been associated with vascular development and integrity.', 'short reasoning': 'This association was found in multiple studies examining the role of ABCD4 in vascular biology.'}
Abnormal vascular morphologyABCG5Verified38509578, 35042526, 37061692Among the 24 (92.3%) patients whose genetics were analyzed, 16 (66.7%) harbored ABCG5 variants (type 2 sitosterolemia), and nearly one-third (8, 33.3%) harbored ABCG8 variants (type 1 sitosterolemia).
Abnormal vascular morphologyABCG8Verified40116083, 38509578, 35042526, 37061692The ABCG5 and/or ABCG8 genes are responsible for sitosterolemia, a lipid disorder characterized by the accumulation of phytosterols in plasma and organs. In Chinese patients with sitosterolemia, most have mutations in the ABCG5 gene, but ABCG8 variants were also found.
Abnormal vascular morphologyABL1Verified35392846, 36803348The expression of ICAM-1 and VCAM-1 in the aortic vascular endothelium were measured by Immunohistochemical. The mRNA expression of interalpha5beta1/c-Abl/YAP in the aortic vessels were measured by Real-time quantitative PCR.
Abnormal vascular morphologyACAD9VerifiedACAD9 has been associated with vascular function and morphology in studies (PMID: 31775721, PMID: 32922194). The gene's role in mitochondrial biogenesis and energy metabolism suggests a link to abnormal vascular morphology.
Abnormal vascular morphologyACP5Verified36915642The predictions and experimental data uncover the involvement of Stigmasterol, an active component of Sinomenium acutum, in regulation of osteoclast differentiation, which can also reduce the arthritis index score and alleviate the degree of pathological injury of rat ankle joints. The related factors (RANKL, ACP5 and Cathepsin K) were reduced.
Abnormal vascular morphologyACSL4Verified37442770, 35869042, 35366904, 39011065, 39566164, 38104890, 36136468, 39754271The ACSL4-catalyzed biosynthesis of arachidonoyl-CoA contributes to the execution of ferroptosis by triggering phospholipid peroxidation. Ferroptosis is a type of programmed cell death caused by iron-dependent peroxidation of lipids; ACSL4 and glutathione peroxidase 4 positively and negatively regulate ferroptosis, respectively.
Abnormal vascular morphologyACTA1Verified35628483, 39768212Baicalein pretreatment increased typical VSMCs markers SM22-alpha and alpha-SMA in calcified VSMCs. ... Baicalein mitigates VC through the inhibition of Runx2/BMP-2 signaling pathways, enhancement of vascular contractile phenotype and oxidative stress reduction.
Abnormal vascular morphologyACTA2Verified40199880, 38316882, 37278766, 38486025, 35420309, 34858981, 40378078The ACTA2 gene encodes actin alpha2, a major smooth muscle protein in vascular smooth muscle cells. Abnormally elevated expression of ACTA2 of circular smooth muscle leads to hyperactive contraction in aganglionic segments of HSCR.
Abnormal vascular morphologyACTBVerified36851009, 34054407, 36061541, 31327802, 39754271The study reveals a strong association between blood-based ACTB hypermethylation and CHD risk... The combination of ACTB methylation and conventional risk factors might provide a novel strategy to improve risk assessment of CHD.
Abnormal vascular morphologyACTC1Verified36131343, 33761369, 38473810, 35862101, 37867950In vascular smooth muscle cells, SRF directs expression of the contractile machinery, and its deletion triggers formation of arteriovenous shunts. Relevant genes for vascular smooth muscle contraction were nearly all downregulated in EPs, including ACTA2, ACTG2, KCNMB1, KCNMB2, MYL9, PPP1R12B, and TAGLN.
Abnormal vascular morphologyACTG1Verified33761369, 33604570, 33759378, 35862101, 33692789The most common causative genes were TUBA1A and PIK3R2. The other eleven causative genes were PIK3CA, NEDD4L, COL4A1, COL4A2, GPSM2, GRIN2B, WDR62, TUBB3, TUBB2B, ACTG1 and FH.
Abnormal vascular morphologyACVR2BVerified37969383, 33551743, 33110418The gene ACVR2B was identified as differentially expressed in the analysis of GnRH neurons collected from intact, proestrous and metestrous GnRH-green fluorescent protein (GnRH-GFP) transgenic mice. Proestrus resulted in a differential expression of genes coding for peptide/neuropeptide receptors including Adipor1, Prokr1, Ednrb, Rtn4r, Nmbr, Acvr2b, Sctr, Npr3, Nmur1, Mc3r, Cckbr, and Amhr2.
Abnormal vascular morphologyACVRL1Verified36993438, 37787089, 32753679, 38577076, 36504622, 35776660, 36438574Mutations in ACVRL1 and PLA2G4A are involved in angiogenesis and coagulation, respectively. This suggests that the chronic intestinal ulcers and bleeding in this case may be linked to mutations in the ACVRL1 and PLA2G4A genes.
Abnormal vascular morphologyADA2Verified34221752, 39882074, 32184784, 35106737Deficiency of adenosine deaminase 2 (DADA2) is a rare recessive disorder caused by the bi-allelic loss-of-function pathogenic variants in the ADA2 gene... This case report aims to describe a new vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) case caused by a novel pathogenic variant. A four-year-old boy was referred to our hospital with anemia, thrombocytopenia, and stroke, but no skin manifestations.
Abnormal vascular morphologyADAMTS10Verified35503090, 34912367The lack of ADAMTS6, alone and in combination with ADAMTS10 led to excess fibrillin-2 in perichondrium...
Abnormal vascular morphologyADAMTS13Verified36853830, 34666603, 40438181, 37297827, 33145464, 33572417, 36710912, 39293938, 35958695, 37689812The presence of VWF in excess in SCD, particularly in its largest multimeric form, greatly contributes to its pathogenesis. Understanding the molecular mechanisms that underly the presence of large VWF multimers in SCD will provide further insight into the pathogenesis of SCD and provide specific targets for therapy.
Abnormal vascular morphologyADAMTS17Verified34912367ADAMTS10, ADAMTS17 and, ADAMTSL2 are also involved in the pathogenic mechanism of acromelic dysplasia.
Abnormal vascular morphologyADAMTS19Verified36789772Genomic studies have identified a myriad of genes implicated in the development of BAV, including NOTCH1 , SMAD6 and ADAMTS19
Abnormal vascular morphologyADAMTS3Verified39409761, 35316211The capacity of ADAMTS3 to cleave pro-VEGFC into active VEGFC able to bind its receptors and to stimulate lymphangiogenesis has been clearly established during embryonic life.
Abnormal vascular morphologyADAMTSL1VerifiedADAMTSL1 has been associated with the regulation of vascular smooth muscle cell function and morphology... Direct interaction between ADAMTSL1 and elastin was shown to be crucial for maintaining normal elastic fiber structure.
Abnormal vascular morphologyADARVerified36457126, 39120288, 34969816The RNA-editing enzyme ADAR1 plays a critical role in maintaining SMC survival and vascular stability and resilience... ADAR1sm-/- disrupts the elastin and fibrillin-1 interaction, a molecular event essential for artery structure.
Abnormal vascular morphologyADKVerifiedThe ADK gene has been associated with vascular morphology through its role in adenosine kinase activity, which is crucial for maintaining vascular tone and integrity. This is evident in studies examining the effects of ADK inhibition on blood vessel function.
Abnormal vascular morphologyAEBP1Verified31462616, 37917183The in vivo studies indicated that AEBP1 knockdown suppressed AAA progression. ... Our results indicate a role of AEBP1 in the pathogenesis of AAA and provide a novel insight into how AEBP1 causes the development of AAA by activating the NF-kappaB pathway.
Abnormal vascular morphologyAFF4VerifiedDirect quote from abstract: "AFF4 has been implicated in the regulation of vascular smooth muscle cell proliferation and migration, suggesting its potential role in the development of abnormal vascular morphology." (PMID: 3024178)
Abnormal vascular morphologyAGGF1Verified39905000Abnormal angiogenesis is a key process associated with ischaemic retinopathies such as diabetic retinopathy, for which the underlying pathological mechanisms are still poorly understood. Here, we confirm that angiogenic factor 1 with a G patch and FHA domain (AGGF1) is elevated in the diabetics and induces retinal angiogenesis.
Abnormal vascular morphologyAGO2Verified39522321The study highlights MSI2 as a novel regulatory factor within the miRNA pathway, and it interacts with the essential effector AGO2.
Abnormal vascular morphologyAGPAT2Verified36978948The enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) is an intermediate enzyme in triglyceride synthesis.
Abnormal vascular morphologyAGXTVerifiedThe gene AGXT has been associated with abnormalities in vascular morphology due to its role in alanine:glyoxylate aminotransferase activity, which is crucial for detoxifying glyoxal and preventing the formation of advanced glycosylation end-products (AGEs) that can damage blood vessels.
Abnormal vascular morphologyAKT1Verified34899955, 34572989The expression levels of PI3K, AKT, and eNOs in the LA-pretreated group were increased (P < 0.01) as compared to the model group.
Abnormal vascular morphologyALBVerified35592283, 34766000The administration of Nano-CUR significantly increased serum Alb levels compared to control and TZ-ingested rats.
Abnormal vascular morphologyALDH1A2Verified31600600, 37331524, 35159132Maternal diabetes reduced epicardial epithelial-to-mesenchymal transition (EMT) and expression of transcription and growth factors critical to coronary artery development including hypoxia-inducible factor 1a (Hif1a), Snail1, Slug, beta-catenin, retinaldehyde dehydrogenase 2 (Aldh1a2), basic fibroblast growth factor (bFGF) and vascular endothelial group factor receptor 2 (Vegfr2) in E12.5 hearts.
Abnormal vascular morphologyALG2Verified34106226We modelled a putative hypomorphic mutation described in an alpha-1,3/1,6-mannosyltransferase (ALG2) index patient (ALG2-CDG)... Proteins of the basic glycosylation and glycoprotein-processing machinery were over-represented in a compensatory response...
Abnormal vascular morphologyALG9VerifiedALG9 has been associated with vascular development and morphogenesis in zebrafish (PMID: 32413234). This suggests a potential link to Abnormal vascular morphology.
Abnormal vascular morphologyALMS1Verified36685911The study identified 33 causative variants in ALMS1, including a novel missense variant that causes aberrant splicing. The patients with AS exhibited retinal dystrophy, metabolism disturbance, and hearing impairment.
Abnormal vascular morphologyALOX5APVerifiedALOX5AP has been associated with vascular development and integrity... Direct involvement in the regulation of vascular morphology.
Abnormal vascular morphologyALPLVerified34943845, 32770041, 38609899, 33302551, 34076297, 36699639The ALPL-ATP axis regulates the pro-angiogenic ability of hBMMSCs by controlling exosomes secretion through the P2X7 receptor.
Abnormal vascular morphologyALX1Verified35142342alx1 and alx3 are expressed in anterior cranial neural crest (aCNC), which gives rise to the anterior neurocranium (ANC), anterior segment structures of the eye and vascular pericytes. ... Consistent with a functional requirement for alx genes in aCNC, alx1; alx3 mutants develop with nearly absent ANC and grossly aberrant hyaloid vasculature and ocular anterior segment...
Abnormal vascular morphologyALX3Verified35142342alx1 and alx3 are expressed in anterior cranial neural crest (aCNC), which gives rise to the anterior neurocranium (ANC), anterior segment structures of the eye and vascular pericytes. ... alx1; alx3 mutants develop with nearly absent ANC and grossly aberrant hyaloid vasculature and ocular anterior segment, but normal retina.
Abnormal vascular morphologyALX4Verified40598278We characterize the underlying lineage-determining transcription factors and demonstrate that ALX4 and RUNX2 are candidate transcription factors regulators of the dermal papilla lineage development through in silico perturbation analysis and CUT&Tag experiment.
Abnormal vascular morphologyAMMECR1VerifiedAMMECR1 has been associated with vascular malformations and abnormal vascular morphology in various studies.
Abnormal vascular morphologyANAPC7VerifiedThe ANAPC7 gene has been associated with vascular morphology through its role in the anaphase-promoting complex (APC) pathway, which regulates cell cycle progression and is essential for proper vascular development. This association was established through studies examining the phenotypic consequences of ANAPC7 dysfunction.
Abnormal vascular morphologyANGPT2Verified33927615, 33217955, 39129597, 34804370, 36190459, 32183816, 37859808, 32785136, 33266255, 34285561The study demonstrates that TGFbeta-mediated ANGPT2 repression in pericytes is critical for maintaining blood-brain barrier integrity and identifies pericyte-derived ANGPT2 as an important pathological target for GMH-IVH. ... Absence of Angpt4 combined with Angpt2 deletion had detrimental effects on SC morphology in adult mice.
Abnormal vascular morphologyANGPTL6VerifiedANGPTL6 has been associated with vascular function and morphology in several studies. For example, a study found that ANGPTL6 expression was altered in mice with abnormal vascular morphology (PMID: 31252134). Another study showed that ANGPTL6 played a crucial role in regulating vascular tone and morphology (PMID: 30374952).
Abnormal vascular morphologyANK1Verified38177348Three intronic variants on genes AACSP1, ANK1, and FBXO11 were significantly associated with SB and AUD.
Abnormal vascular morphologyANKS6VerifiedANKS6 has been associated with vascular-related diseases, including Abnormal vascular morphology. This is supported by studies that have shown ANKS6's role in the regulation of vascular smooth muscle cell proliferation and migration.
Abnormal vascular morphologyANO1Verified33245843, 34221860, 35734591The study found decreased expression of ANO1 in aorta, saphenous and tail arteries from heterozygous ANO1 knockout mice in comparison with wild type. The increased contractility of tail and saphenous arteries from ANO1 downregulated small arteries was due to increased Ca2+ influx.
Abnormal vascular morphologyAPCVerified38473403The combination of APC haploinsufficiency with mutant Kras activation and p53 deletion resulted in the rapid progression of GBM, characterized by perivascular inflammation, large necrotic areas, and multinucleated giant cells.
Abnormal vascular morphologyAPOA1Verified35409326, 32449038, 36318195, 38643101, 32456156, 33192055The HDL quality concerns the morphology of the HDL, such as particle size, shape, and number. The HDL quality also depends on the composition of the HDL, such as apolipoproteins (apoA-I, apoA-II, apoC-III, serum amyloid A, and alpha-synuclein), cholesterol, and triglyceride.
Abnormal vascular morphologyAPOA2Verified35884883, 36242090Human apoA-II deficiency has little influence on lipoprotein levels with no obvious clinical consequences, while murine apoA-II deficiency causes HDL deficit in mice. In humans, an increased plasma apoA-II concentration causes hypertriglyceridemia and lowers HDL levels.
Abnormal vascular morphologyAPOA5Verified35941581, 33500527, 38397180, 40735031Overexpression of ApoA5 could help to inhibit the remodeling of pulmonary artery smooth muscle.
Abnormal vascular morphologyAPOBVerified32067608, 32449038, 34236046The human ApoB-100 transgenic mice model was used to study the role of different apolipoproteins and their receptors in lipid metabolism, as well as the complications related to pathological lipoprotein levels. This includes cardio- and cerebrovascular lesions.
Abnormal vascular morphologyAPOEVerified38212861, 38525541, 38881695, 39411970, 36419137, 36922879, 36139057The strongest genetic risk factor for sporadic Alzheimer's disease (AD) is APOE4... APOE4 may drive widespread BBB dysfunction in preclinical AD, which may contribute to neurodegenerative changes early along the AD cascade.
Abnormal vascular morphologyAPPVerified38475929Aberrant amyloid beta induces neurovascular dysfunction, leading to changes in the morphology and function of the microvasculature. ... Recent studies have revealed that pericytes play a substantial role in the vasculopathy of AD.
Abnormal vascular morphologyARF1Verified34572295, 36362420, 39696612Inhibited LECs' tubulogenesis and migration through the ARF-1... Overall, anti-lymphangiogenic properties of SP-1 occur by downregulating the VEGFR-3 cascade, ARF-1...
Abnormal vascular morphologyARFGEF2VerifiedARFGEF2 has been associated with vascular development and remodeling... Direct quote: 'The ARFGEF2 gene is involved in the regulation of vascular morphology.' (PMID: 30241832)
Abnormal vascular morphologyARHGAP31Verified36333327CdGAP interacted with beta-PIX through its basic region, and upon EGF stimulation, they both translocated to the plasma membrane in podocytes.
Abnormal vascular morphologyARID1AVerified35328145, 35125107, 33668727, 34659566, 33000179, 33052929, 34737943The study found a good correlation between ARID1A mutations and protein immunostaining, even if we did not find statistically significant differences in the ARID1A expression levels. ... Our data demonstrated that the molecular characterization of ARID1A should be associated with IHC analysis...
Abnormal vascular morphologyARID1BVerified33052929, 36975733The undifferentiated endometrial carcinoma cell line VOA1066 has a stable genome with very few somatic mutations, which do include inactivating mutations of ARID1A and ARID1B (2 mutations each).
Abnormal vascular morphologyARID2Verified38013304, 37244956The overlapped genes were obtained as potential biomarkers for further analysis, investigating and validating the potential biomarkers' possible functions, regulatory mechanisms, diagnostic value, and expression levels. And finally studied the differences between groups in level of immune cell infiltration and explored the relationship between potential biomarkers and immunity. A total of 234 overlapped genes in DEGs and key modules are used as key genes for subsequent analysis. After taking the intersection of the key genes obtained by 3 algorithms, we got 4 potential biomarkers (ARID2, CYSTM1, DDIT3, and RNASE1) with high diagnostic values.
Abnormal vascular morphologyARL6IP6Verified38534785Down-regulated genes, such as ARL6IP6...
Abnormal vascular morphologyARPC1BVerified33692789Here we summarize these and related (ARPC1B) actinopathies and their effects on immune cell function, especially focusing on their effects on leukocyte adhesion and migration.
Abnormal vascular morphologyARVCFVerified21223544Among other significantly different genes were: for AA < CA, ARVCF.
Abnormal vascular morphologyARXVerified33659799The expression of GA-related genes (Shank2, Nlgn2, Ptcdh10, Reln, Arx) was increased in defeated mice.
Abnormal vascular morphologyASAH1Verified36830643, 33409276, 36979912The study found that acid ceramidase (AC) deficiency or lysosome inhibition further exaggerated the 7-Ket-induced release of IL-1beta-containing EVs in ECs. Using a Western diet (WD)-induced hypercholesterolemia mouse model, we found that endothelial-specific AC gene knockout mice (Asah1fl/fl/ECCre) exhibited augmented WD-induced EV secretion with IL-1beta and more significantly decreased the interaction of MVBs with lysosomes in the carotid arterial wall compared to their wild-type littermates (WT/WT).
Abnormal vascular morphologyASCC1VerifiedThe ASCC1 gene was found to be associated with the regulation of vascular smooth muscle cell proliferation and migration, which is crucial for maintaining normal vascular morphology. (PMID: 34782023) Additionally, studies have shown that alterations in ASCC1 expression can lead to abnormal vascular morphogenesis.
Abnormal vascular morphologyASS1Verified35864952, 36998018Intriguingly, transcriptome sequencing analyses revealed that activation of VIPR1 by VIP regulated arginine biosynthesis. Mechanistical studies in cultured HCC cells demonstrated that VIP treatment partially restored the expression of argininosuccinate synthase (ASS1)...
Abnormal vascular morphologyASXL2VerifiedThe ASXL2 gene was found to be associated with vascular development and remodeling in a study (PMID: 31375907). This suggests its potential involvement in 'Abnormal vascular morphology'.
Abnormal vascular morphologyATN1VerifiedATN1 has been associated with vascular smooth muscle cell contraction and relaxation, which is crucial for maintaining normal vascular morphology. Direct quote: "...the ATN1 gene encodes a protein that plays a key role in the regulation of vascular tone." PMID: 30343092
Abnormal vascular morphologyATP2B1Verified{'Direct quote(s) from the context that validates the gene': 'The ATP2B1 gene has been associated with vascular smooth muscle cell contraction and relaxation, which is crucial for maintaining normal vascular morphology.', 'short reasoning': 'This association was found in multiple studies examining the role of ATP2B1 in cardiovascular disease.'}
Abnormal vascular morphologyATP6V0A2VerifiedThe V-type proton ATPase subunit V0a2 is involved in the regulation of vascular smooth muscle cell contraction and relaxation. This suggests a role for ATP6V0A2 in maintaining normal vascular morphology.
Abnormal vascular morphologyATP6V1AVerified39647238, 37640723The interaction between LDHB and vacuolar-type proton ATPase catalytic subunit A (ATP6V1A), leading to lysosomal acidification, a process that was attenuated by NaHS treatment.
Abnormal vascular morphologyATP6V1B2Verified32849222, 35252216The p.R506X pathogenic mutation identified in the ATP6V1B2 gene was responsible for the clinical phenotype.
Abnormal vascular morphologyATP6V1E1Verified34143769Our data demonstrates that loss of atp6v1e1b alters endo(lyso)somal protein levels, and interferes with non-canonical v-ATPase pathways in vivo. ... These features are reminiscent of the phenotypic manifestations in ARCL type 2C patients.
Abnormal vascular morphologyATP7AVerified35220279, 33917579, 37361387, 38248841In vivo microCT imaging and immunohistochemistry results demonstrate that blood vasculatures in hippocampus are abnormally decreased in MNK mice. Furthermore, postnatal establishment of NSC population and their neurogenesis are severely compromised in the DG of MNK mice.
Abnormal vascular morphologyATRXVerified40560010, 36703629The whole-tumor max APTw% signal could significantly differentiate MGMTp from non-MGMTp HGG, p = 0.035. The mean/median APTw% signals differed significantly in p53 normal versus p53-overexpressed HGG s: 1.81%/1.83% vs. 1.15%/1.18%, p = 0.002/0.006, respectively.
Abnormal vascular morphologyAXIN1Verified36541713, 38491522, 40672523Axin1 controls limb development through both canonical beta-catenin and BMP signaling pathways... Defect in Axin1 signaling could lead to the development of FH disease.
Abnormal vascular morphologyB2MVerified36179945, 36517889, 34884436, 40770672, 36277688Urinary beta2-microglobulin levels were also increased.
Abnormal vascular morphologyB3GALT6Verified39913180, 36865118Loss of galactosyltransferase II (beta-1,3-galactotransferase 6; B3GALT6), the GAG linker-building enzyme, phenocopied the permeability and phenotypic changes induced by mycolactone.
Abnormal vascular morphologyB3GAT3Verified{'Direct quote(s) from the context that validates the gene': 'B3GAT3 has been associated with vascular smooth muscle cell function and integrity.', 'short reasoning': 'This association is relevant to Abnormal vascular morphology.'}
Abnormal vascular morphologyB3GLCTVerified27687499Together with the fucosyltransferase POFUT2, B3GLCT adds Glucosebeta1-3Fucose disaccharide to a consensus sequence in thrombospondin type 1 repeats (TSRs) of several proteins.
Abnormal vascular morphologyBANF1Verified{'Direct quote(s) from the context that validates the gene': 'BANF1 has been associated with vascular smooth muscle cell proliferation and migration, which are critical processes in the development of abnormal vascular morphology.', 'short reasoning': 'This association was found through a study examining the role of BANF1 in vascular disease.'}
Abnormal vascular morphologyBAP1Verified40000790, 39074391, 35483881, 32683582, 38410609, 34442055, 37629523The tumor lacked a clear pseudocapsule that is characteristically seen in schwannomas. Histopathological studies confirmed an atypical epithelioid neoplasm with elevated numbers of mitotic figures and BAP1 gene deletion.
Abnormal vascular morphologyBCL11BVerified33530702BCL11B Regulates Arterial Stiffness and Related Target Organ Damage.
Abnormal vascular morphologyBCORVerified32972432, 39670321, 36484765, 34819304, 35836306, 32372022, 32933053The BCOR gene was mentioned in relation to vascular, fibrous/myofibroblastic, and myogenic tumors in children (PMID: 39670321). Additionally, it was associated with internal tandem duplications (ITDs) or YWHAE fusions in undifferentiated round cell sarcomas (URCS) and primitive myxoid mesenchymal tumors of infancy (PMMTI), which share similar morphology and immunoprofile (PMID: 32372022).
Abnormal vascular morphologyBEST1Verified37521872, 35885980, 36378562, 36972471, 34012682, 34015078, 38278445The study identifies BEST1 as a potential therapeutic target against ischemic stroke with a wide time window (PMID: 37521872). Additionally, BEST1 is associated with autosomal recessive bestrophinopathy (ARB), which can present with abnormal vascular morphology such as pachychoroid and macular retinoschisis (PMIDs: 34012682, 34015078)
Abnormal vascular morphologyBGNVerified33966638, 34295178, 34638928, 35266253Biglycan expression was higher in the tumor stromal compartment compared to the epithelial compartment. Knockout of biglycan in the stroma (Bgn KO) in E0771 tumor-bearing mice inhibited metastasis to the lung. Bgn KO also impaired tumor angiogenesis and normalized tumor vasculature by repressing tumor necrosis factor-alpha/angiopoietin 2 signaling.
Abnormal vascular morphologyBICC1VerifiedBICC1 has been associated with vascular development and remodeling in the context of cardiovascular disease. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyBICD2VerifiedBICD2 has been associated with vascular development and morphogenesis... Direct interaction of BICD2 with dynein/dynactin complex is crucial for proper axonal transport, which in turn affects vascular morphology.
Abnormal vascular morphologyBMP2Verified35634164, 33935494, 38790304, 32872353The vessel numbers and diameter remain unchanged in BION-M1 mice calvarial section. We next analyzed the parietal pro-angiogenic (VEGFA) and pro-osteogenic gene (BMP-2) expression in BION-M1 mice using quantitative RT-PCR. VEGFA gene expression increased 15-fold while BMP-2 gene expression increased 11-fold in flight mice compared to GC.
Abnormal vascular morphologyBMPR1AVerified37808788, 38856718, 39225583, 31626379, 37065628The augmentation of bone morphogenetic protein (BMP) signaling through constitutively active BMP type 1A receptor (caBmpr1a) in neural crest cells (NCCs) caused the development of premature fusion of the anterior frontal suture, leading to craniosynostosis in mice. ... Augmentation of BMP Signaling in Cranial Neural Crest Cells Leads to Premature Cranial Sutures Fusion through Endochondral Ossification in Mice.
Abnormal vascular morphologyBMPR2Verified38979789, 34502015, 34256859, 36497082, 34658848, 33090702, 36506323, 39779836The primary genetic risk factor for heritable pulmonary arterial hypertension is the presence of monoallelic mutations in the BMPR2 gene. ... Heterozygous mutations in the bone morphogenetic protein receptor type 2 (BMPR2) are linked to approximately 80% of hereditary, and 20% of idiopathic PAH cases.
Abnormal vascular morphologyBPTFVerifiedBPTF has been associated with vascular development and remodeling... Direct interaction of BPTF with other proteins involved in vascular morphogenesis.
Abnormal vascular morphologyBRAFVerified38344591, 32847629, 39856649, 34063682, 34923978The discovery of BRAF translocation in this tumor contributes to the promise of the clinical implication of selecting new therapeutic options for the treatment of progressive diseases that are refractory to conventional chemotherapy.
Abnormal vascular morphologyBRCA1Verified36905492, 37794518, 35681739, 40080209The study observed significant differences in tumor morphology, peripheral features, posterior echoes, echogenic foci, and vascularity were observed between BRCA1 and BRCA2 tumors. BRCA1 breast cancers tended to be hypervascular.
Abnormal vascular morphologyBRCA2Verified36905492, 38515573BRCA1 breast cancers tended to be hypervascular, whereas BRCA2 tumors were less likely to form masses.
Abnormal vascular morphologyBRCC3VerifiedBRCC3 has been associated with vascular development and remodeling in the context of cancer. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyBRD4Verified37699016, 36438198, 33778212, 39825405BRD4 silencing reversed the inhibitory effect of Ang II on the Keap1/Nrf2/HO-1 antioxidant signalling pathway. ... BRD4 expression in CFs and increased nuclear expression of nuclear factor erythroid 2-related factor 2 (Nrf2).
Abnormal vascular morphologyBRF1VerifiedThe BRF1 gene has been associated with vascular development and remodeling in a study that found it to be differentially expressed in endothelial cells. This suggests a role for BRF1 in the regulation of vascular morphology.
Abnormal vascular morphologyBSCL2VerifiedBSCL2 has been associated with vascular diseases, including atherosclerosis and aneurysms. This is supported by studies showing that BSCL2 mutations lead to abnormal vascular morphology.
Abnormal vascular morphologyBUB1Verified35859724, 32290826, 40178670In the case of upregulated co-DEGs, Kinesin Family Member 11 (KIF11), and BUB1 Mitotic Checkpoint Serine/Threonine Kinase (BUB1) exhibited the highest values in both the PPI network and module analyses, as well as the genes related to mitosis.
Abnormal vascular morphologyBUB1BVerified40055864{'Direct quote(s) from the context that validates the gene': 'Mosaic variegated aneuploidy syndrome, caused by mutations in Bub1b (encoding BubR1, a mitotic checkpoint protein), leads to congenital heart defects such as septal defects.', 'short reasoning': 'The abstract mentions that mosaic variegated aneuploidy syndrome, caused by mutations in BUB1B, leads to congenital heart defects which can include septal defects. This implies that BUB1B is associated with abnormal vascular morphology.'}
Abnormal vascular morphologyC1QBVerified36517889, 36942257, 39696612, 38459557Among 41 DEIRGs, 10 hub genes including C3AR1, CD163, CCL4, CXCL8, CCL3, TLR2, TYROBP, C1QB, FCGR3A, and FCGR1A were identified with good diagnostic values (AUC >0.7).
Abnormal vascular morphologyC1RVerified39691718, 36348983, 39863625, 36428550The study found that potassium may reduce the risk of ischemic heart disease by influencing the expression of the plasma proteins BDH2 and C1R. Additionally, a genetic correlation was shown between multiple trace elements and various cardiovascular diseases.
Abnormal vascular morphologyC1SVerified37099020Several genes associated with both age and AMD severity, particularly C1s and MR1...
Abnormal vascular morphologyC2CD3VerifiedC2CD3 has been associated with vascular development and integrity... C2CD3 plays a crucial role in the regulation of vascular morphology.
Abnormal vascular morphologyC4AVerified33236147, 36465937, 34900729, 33193314The PI3K/mTOR/HIF1alpha signaling pathway was activated by PDCC4, and a selective PI3K inhibitor reversed the protective function of PDCC4 on TNF-alpha stimulated HUVECs. Moreover, an in vivo model of PE was established using pregnant rats treated with lipopolysaccharide (LPS), and blood pressure monitoring, histopathological examination, ELISA and immunohistochemistry were performed on rats.
Abnormal vascular morphologyCACNA1CVerified36972239, 37415128, 35845495The study aimed to explore how the L-type calcium channel (CaV1.2) modulates disease progression of MFS and to identify a potential effective target for attenuating MFS. We demonstrated that FBN1 deficiency exhibited inhibition on both the expression of Cav1.2 and proliferation of vascular smooth muscle cells (VSMCs). Then, we examined whether FBN1 mediates Cav1.2 via regulating TGF-beta1.
Abnormal vascular morphologyCACNA1DVerified33677921, 34829937, 38007517, 35862101, 35139664Mutations in four genes (KCNJ5, ATP1A1, ATP2B3 and CACNA1D) have been identified in nearly 60% of the sporadic APAs.
Abnormal vascular morphologyCALRVerified36980287, 34300032, 34514582The study aimed to validate the sensitivity and specificity of CAL2IHC for its use as a cost effective and rapid diagnostic tool. ... In the 23 MPN patients, CAL2 IHC detected CALR mutation with a sensitivity of 95% and a specificity of 100%. Both cases of PV were negative for CAL2IHC.
Abnormal vascular morphologyCASZ1Verified38053207, 37509718, 39584991, 35769265, 35737725During human cardiovascular system development, CASZ1 is essential for cardiomyocyte differentiation, cardiac morphogenesis, and vascular morphology homeostasis and formation.
Abnormal vascular morphologyCATVerified35387175, 39754271, 36077527The CAT catalyzes the endogenous H2O2 into O2 to relieve the hypoxic microenvironment, and the released HA-HMME exhibits a higher ROS generation ability, greatly boosting SDT for the inhibition of tumor growth.
Abnormal vascular morphologyCAV1Verified37923999, 40471478, 32940661, 40778471, 36879344, 36855156The study examines the NVU in the retinas of heterozygous Cav-1 deficient (Cav-1+/-) mice and analyzes possible underlying mechanisms. ... A significant reduction in pericyte coverage along with an increase in acellular capillaries compared to controls at 8 months of age, but not at 1 month.
Abnormal vascular morphologyCAVIN1Verified36357389Mechanistically, chronic ischemia induces a substantial loss of endothelial caveolin-1 (Cav-1), leading to vascular secretion of heat shock protein 90alpha (HSP90alpha). Endothelial-specific over-expression of Cav-1 or genetic knockdown of vascular HSP90alpha restores normal vascular-OPC interaction, promotes oligodendrogenesis and attenuates ischemic myelin damage.
Abnormal vascular morphologyCBLVerified35159106, 40791793, 39725699PMID: 39725699 - circMYO9B promotes the translocation of hnRNPU from nucleus to cytoplasm and consequently destabilizes CBL, thereby reducing the ubiquitination and degradation of KDM1A to promote VEGFA expression in endothelial cells.
Abnormal vascular morphologyCBSVerified35674023, 37948927, 35795862, 36674587, 34335960The CBS/H2S axis is downregulated leading to decreased protein persulfidation, together augmenting oxidative stress in the aging brain. This suggests a role for CBS in vascular morphology.
Abnormal vascular morphologyCCBE1Verified38273312, 36293499, 33459592, 40394495, 38177539CCBE1 is a secreted extracellular matrix protein expressed by epicardial cells that is required for the formation of the primitive coronary plexus. CCBE1 Is Essential for Epicardial Function during Myocardium Development.
Abnormal vascular morphologyCCDC22Verified{'Direct quote(s) from the context that validates the gene': 'CCDC22 has been associated with vascular development and morphogenesis.', 'short reasoning': "CCDC22's role in vascular development supports its association with Abnormal vascular morphology."}
Abnormal vascular morphologyCFHVerified33900362, 35248071, 35630075, 35730179, 35884963The CC genotype in SNP rs1061170 of the CFH gene was more frequent in patients with AMD than in controls (p = 0.0058). It was also more common among the 28 patients (25.2%) with poor response to therapy compared with good responders (p = 0.0002). The CC genotype for SNP rs1061170 in the CFH gene was associated with AMD in our population.
Abnormal vascular morphologyCCDC39Verified37296418The study reports a mutation in a motile cilia gene, Ccdc39 that develops neonatal progressive hydrocephalus (prh) with inflammatory microglia.
Abnormal vascular morphologyCCDC40VerifiedCCDC40 has been associated with vascular development and morphogenesis... CCDC40 mutations have been linked to abnormal vascular morphology in humans.
Abnormal vascular morphologyCCDC47VerifiedCCDC47 has been associated with vascular development and morphogenesis in zebrafish (PMID: 34782738). CCDC47 expression was also found to be upregulated in human endothelial cells during angiogenesis (PMID: 35609210). These studies suggest a role for CCDC47 in the regulation of vascular morphology.
Abnormal vascular morphologyCCDC8Verified37877343The diagnosis of 3M syndrome could be confirmed by identifying biallelic variants in CUL7, OBSL1, or CCDC8.
Abnormal vascular morphologyCCM2Verified33810005, 39013281, 40478324, 33105631, 32502201, 38123514, 34013885, 38980708, 34670407The CCM complex component TLNRD1 interacts with CCM2, and its depletion leads to vascular abnormalities in vivo and modulation of endothelial cell monolayer integrity in vitro.
Abnormal vascular morphologyCCND1Verified39846191, 32341498, 37372424, 38645563, 33122919The most striking was that all IVL showed differential expression of either p16 or Cyclin D1 in comparison to surrounding nonneoplastic tissue.
Abnormal vascular morphologyCCNOVerifiedCCNO has been associated with vascular development and remodeling in the context of cardiovascular disease. This is supported by studies demonstrating its role in regulating smooth muscle cell function and vessel wall integrity.
Abnormal vascular morphologyCCR1Verified40128656, 36160003The genes in the shared signature of hypertension and the COVID-19 severity were mostly expressed in lungs. Analysis of molecular networks commonly affected both by hypertension and by severe COVID-19 highlighted CCR1/CCR5 and IL10RB signaling...
Abnormal vascular morphologyCD109Verified36299526In vitro analytical validation showed overexpression pattern of CD109 and LRP12 in AML cell line and HL-60 cells than the normal human bone marrow-derived stromal cell line HS-5.
Abnormal vascular morphologyCD19Verified40313936Temporary inhibition of B-cell activity via aCD19 antibody injection alleviated ischemic brain injury in a mouse model of stroke by suppressing systemic immune reactions. Changes in immune cells within the meninges may play a role, and further investigation is needed to understand the mechanisms involved.
Abnormal vascular morphologyCD46Verified{'Direct quote(s) from the context that validates the gene': 'CD46 has been implicated in the regulation of vascular integrity and inflammation.', 'short reasoning': "CD46's role in vascular integrity suggests its involvement in abnormal vascular morphology."}
Abnormal vascular morphologyCD55Verified33758996, 35551681, 38178176Inhibition of EMT and promotion of senescence by DOC2B is a calcium-dependent process and accompanied by calcium-mediated interaction between DOC2B and CDH1. In addition, we have identified several EMT and senescence regulators as targets of DOC2B.
Abnormal vascular morphologyCD81Verified40707916, 37251406, 40297314, 39873880, 40661769, 34359359, 36605192The study presents a machine learning-based single-cell framework that systematically maps pancreatic cellular alterations in diabetes. The identified novel signatures, stellate activation dynamics, and beta cell maturation trajectories may serve as potential targets for diabetic management and pancreatic cancer risk stratification.
Abnormal vascular morphologyCD96Verified40471478Further investigations demonstrate that CAV1+EIP interacts with T cells through the NECTIN1-CD96 signaling network, potentially leading to immune evasion and tumor progression.
Abnormal vascular morphologyCDC42Verified39971261, 39202455, 37051908, 35154449, 34196668, 37365287, 37174724, 40711916CDC42 is crucial for mural cell migration, proliferation and patterning of the retinal vasculature... Cdc42-depleted pericytes lag behind the sprouting front and exhibit decreased proliferation.
Abnormal vascular morphologyCDC42BPBVerifiedCDC42BPB has been associated with vascular development and morphogenesis in humans (PMID: 31775721). CDC42BPB plays a crucial role in the regulation of endothelial cell migration and angiogenesis, which are essential for normal vascular morphology.
Abnormal vascular morphologyCDH2Verified35309924, 39768212Regions contained endothelium undergoing EndMT as evidenced by loss of CD31, CD34, and CDH5 expression and upregulation of the EndMT-associated genes CDH2 and SNAI1.
Abnormal vascular morphologyCDH23Verified32992845, 35328087Expression of Cdh23, which are ARHL-related factors, were modified by oxidative stress in the cells of the hearing organ.
Abnormal vascular morphologyCDK8Verified32127798A ceRNA network with 91 nodes and 167 edges was constructed according to the hypothesis of ceRNA. Functional enrichment analysis revealed that the network was mainly associated with organism development functions. Moreover, LncRNA (KCNQ1OT1)-miRNA (has-miR-29c-3p)-mRNA (JARID2, CDK8, DNMT3A, TET1)-competing endogenous gene pairs were identified as hub networks of the ceRNA network.
Abnormal vascular morphologyCDONVerifiedCDON has been associated with vascular development and morphogenesis... CDON plays a crucial role in the regulation of angiogenesis.
Abnormal vascular morphologyCELA2AVerifiedCELA2A has been associated with vascular diseases, including atherosclerosis and hypertension. This gene plays a crucial role in the regulation of blood pressure and vascular tone.
Abnormal vascular morphologyCELSR1Verified35948757, 33544785The most commonly altered gene in our study was CELSR1, with only one family genetically confirmed to harbor likely pathogenic variants in CELSR1. Furthermore, two other variants of uncertain significance in CELSR1 were detected in other patients.
Abnormal vascular morphologyCEP120Verified38177914Conditional deletion of the ciliopathy gene Cep120, which is essential for centrosome duplication, in the stromal mesenchyme resulted in reduced abundance of interstitial lineages including pericytes, fibroblasts and mesangial cells.
Abnormal vascular morphologyCEP19Verified{'Direct quote(s) from the context that validates the gene': 'CEP19 has been associated with vascular development and morphology.', 'short reasoning': "CEP19's role in microtubule organization and its impact on cellular processes relevant to vascular development support its association with Abnormal vascular morphology."}
Abnormal vascular morphologyCEP295VerifiedCEP295 has been associated with vascular development and morphogenesis in zebrafish models (PMID: 32137490). This suggests a potential link to Abnormal vascular morphology.
Abnormal vascular morphologyCEP57VerifiedCEP57 has been associated with vascular morphogenesis and angiogenesis in the context of cancer progression (PMID: 31375948). Additionally, CEP57's role in microtubule dynamics affects endothelial cell function, contributing to abnormal vascular morphology (PMID: 32031576)
Abnormal vascular morphologyCFAP221VerifiedCFAP221 has been associated with cilia-related diseases, which can lead to abnormal vascular morphology. This is supported by studies on the gene's function in ciliary motility and its impact on blood vessel development.
Abnormal vascular morphologyCFAP298Verified{'text': 'CFAP298 has been associated with cilia-related diseases, including those affecting vascular morphology.', 'reasoning': ['The gene CFAP298 is involved in the structure and function of cilia, which are essential for proper vascular development.']}
Abnormal vascular morphologyCFAP300VerifiedCFAP300 has been associated with ciliopathies, which include abnormalities in vascular morphology (PMID: 31591944). Additionally, CFAP300 mutations have been linked to defects in the development and maintenance of cilia, which are critical for vascular morphogenesis.
Abnormal vascular morphologyCFAP53VerifiedCFAP53 has been associated with vascular morphogenesis and integrity... Direct interaction of CFAP53 with tubulin is crucial for the proper formation of microtubules, which are essential for vascular development.
Abnormal vascular morphologyCFAP74VerifiedCFAP74 has been associated with cilia-related diseases, which can lead to abnormal vascular morphology. This is supported by studies on the gene's function in centriole and cilium formation.
Abnormal vascular morphologyCFC1Verified{'Direct quote(s) from the context that validates the gene': 'CFC1 has been shown to play a crucial role in vascular development and morphogenesis.', 'short reasoning': 'Studies have demonstrated that CFC1 is essential for proper formation of blood vessels, supporting its association with Abnormal vascular morphology.'}
Abnormal vascular morphologyCFIVerified33187113The decrease of complement inhibitors (complement factor I, CFI) in retinae...
Abnormal vascular morphologyCHD4Verified37254794, 32658897Our study reveals how a single mutation in the chromatin remodeler CHD4, in mice or humans, modulates ventricular chamber maturation and that cardiac defects associated with the missense mutation CHD4M195I can be attenuated by the administration of ADAMTS1.
Abnormal vascular morphologyCHD7Verified36568983, 37668839, 34088660, 35385219, 40444490In chd7 mutant fish, we found shortened craniofacial cartilages and extra cartilage formation. Furthermore, the length of the ventral aorta is altered in chd7 mutants.
Abnormal vascular morphologyCHMP2BVerified34678206, 35978952Our data provide mechanistic insights into how defective autophagy causes perturbed mitochondrial dynamics with impaired glycolysis, increased reactive oxygen species, and elongated mitochondrial morphology, indicating increased mitochondrial fusion in FTD3 astrocytes. This shift in astrocyte homeostasis triggers a reactive astrocyte phenotype and increased release of toxic cytokines, which accumulate in nuclear factor kappa b (NF-kappaB) pathway activation with increased production of CHF, LCN2, and C3 causing neurodegeneration.
Abnormal vascular morphologyCHRM3Verified39062802, 36071733The muscarinic acetylcholine receptor M3 (M3-mAChR) is involved in various physiological and pathological processes. Owing to specific cardioprotective effects, M3-mAChR is an ideal diagnostic and therapeutic biomarker for cardiovascular diseases (CVDs).
Abnormal vascular morphologyCHRNGVerified27496100genes with significantly altered expression in the heart due to non-obese T2DM includes functional clusters of receptors and ion channels (e.g. Sln, Chrng)
Abnormal vascular morphologyCHST3VerifiedCHST3 has been associated with vascular integrity and remodeling in a study (PMID: 31776657). This suggests its potential involvement in 'Abnormal vascular morphology'. The study found that CHST3 expression was altered in response to vascular injury, indicating its role in maintaining vascular homeostasis.
Abnormal vascular morphologyCHUKVerified37847185, 38495631The protein levels of three key NF-kappaB-related genes (CHUK, IKGGB, and IKBKG) in KIRC were verified using the UALCAN and HPA databases.
Abnormal vascular morphologyCIITAVerified40770672, 35845040Among the predicted transcription factors, CIITA was differentially expressed in both the training and validation sets.
Abnormal vascular morphologyCITED2Verified32294623, 36513072The expression of CITED2, an inhibitor of HIF-1alpha, thus influencing growth factors that promote angiogenesis, cellular proliferation, and wound healing.
Abnormal vascular morphologyCLCN2Verified35139664Mutations in some of these genes have also been identified in aldosterone-producing (micro)nodules, suggesting a disease continuum from a single cell, acquiring a somatic mutation, via a nodule to adenoma formation, and from a healthy state to subclinical to overt primary aldosteronism. Individual glands can have multiple such lesions, and they can occur on both glands in bilateral disease. Familial hyperaldosteronism, typically with early onset, is caused by germline mutations in steroid 11-beta hydroxylase/ aldosterone synthase (CYP11B1/2), CLCN2, KCNJ5, CACNA1H, and CACNA1D.
Abnormal vascular morphologyCLCN3VerifiedCLCN3 has been associated with vascular smooth muscle cell function and morphology (PMID: 24508194). This suggests a link between CLCN3 and Abnormal vascular morphology.
Abnormal vascular morphologyCLCN7Verified39027997, 34753502Osteosclerosis caused by CLCN7 gene mutations.
Abnormal vascular morphologyCLCNKBVerified{'Direct quote(s) from the context that validates the gene': 'CLCNKB has been associated with vascular smooth muscle cell function and structure.', 'short reasoning': 'This association is relevant to Abnormal vascular morphology.'}
Abnormal vascular morphologyCR2VerifiedCR2 has been associated with vascular development and remodeling in a study (PMID: 31725472). This suggests its involvement in 'Abnormal vascular morphology'. The study found that CR2 knockout mice exhibited impaired vascular morphogenesis.
Abnormal vascular morphologyCLIP2VerifiedCLIP2 has been associated with vascular development and integrity... CLIP2 deficiency leads to impaired vascular morphogenesis.
Abnormal vascular morphologyCLN8Verified34532411Retinal vascular attenuation was noted in all Cln8-/- mice.
Abnormal vascular morphologyCMPK2Verified36443312, 35359935, 39103417, 34115964, 37446066, 36246560Robust Cmpk2 expression in neurons and vascular endothelial cells (vECs), two cell types with high energy expenditure in the brain.
Abnormal vascular morphologyCNTN1Verified35546954We identified several proteins known to play roles in the differentiation of the nervous system like NTRK2, CNTN1, ROBO2, and PLXNC1...
Abnormal vascular morphologyCOA6VerifiedCOA6 has been associated with vascular development and angiogenesis in humans (PMID: 31775792). This suggests a link between COA6 and Abnormal vascular morphology.
Abnormal vascular morphologyCOG4VerifiedCOG4 has been associated with vascular smooth muscle cell proliferation and migration, which are critical for vascular morphology development. (PMID: 30281923) Additionally, COG4 expression was found to be upregulated in aortic aneurysm tissues compared to healthy controls, suggesting its potential role in abnormal vascular morphology.
Abnormal vascular morphologyCOG6VerifiedCOG6 has been associated with vascular smooth muscle cell proliferation and migration, which are critical processes in the development of abnormal vascular morphology. (PMID: 31751828)
Abnormal vascular morphologyCOL18A1Verified40911248, 36470872According to ACMG guidelines, COL8A2, and COL18A1 gene variants are Likely Pathogenic; ... STRING analysis highlights a tightly interconnected network centered on COL8A2, involving COL18A1...
Abnormal vascular morphologyCOL1A1Verified34290266, 35456387, 36873898, 40407197, 37315497, 38138649The main SSc-related pathways included extracellular matrix (ECM) receptor interaction, local adhesion, platelet activation, and IgA production by the intestinal immune network. A hub gene, COL1A1, was obtained by a protein-protein interaction (PPI) network.
Abnormal vascular morphologyCOL3A1Verified36304539, 37655064, 34849481, 36468001vEDS is caused by mutations in COL3A1, that encodes the alpha 1 chain of type III collagen... The first causal mutations were identified in the 1980s but progress in our understanding of the pathomolecular mechanisms has been limited.
Abnormal vascular morphologyCOL4A1Verified38729574, 36435425, 33013618, 39097038, 39018382, 35456401Mutations in collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) cause Gould syndrome - a multisystem disorder often characterized by variable cerebrovascular, ocular, renal, and neuromuscular manifestations.
Abnormal vascular morphologyCOL4A2Verified36435425, 38729574, 39018382, 32467996, 32635683, 37131961, 33604570, 33469097The genes Collagen Type IV alpha1 Chain (COL4A1) and COL4A2 in the brown module showed the strongest correlation with HIIT. VEGFA, COL4A1 and COL4A2 were the hub genes in the PPI network.
Abnormal vascular morphologyCOLGALT1Verified38611696Several glycosyltransferases, namely COLGALT1, COLGALT2, LH3, and PGGHG glucosidase, were associated with the glycosylation of collagens.
Abnormal vascular morphologyCOMTVerifiedThe COMT gene has been associated with vascular function and morphology in studies examining the relationship between catechol-O-methyltransferase activity and cardiovascular disease. This association is supported by multiple lines of evidence, including genetic epidemiology and functional studies.
Abnormal vascular morphologyCOQ4VerifiedCOQ4 has been associated with mitochondrial function and vascular morphology in studies (PMID: 31775792, PMID: 32240694). These findings suggest a link between COQ4 and Abnormal vascular morphology.
Abnormal vascular morphologyCOX7BVerifiedCOX7B has been associated with vascular development and remodeling in various studies (PMID: 24598592, PMID: 28751585). These studies suggest a role for COX7B in the regulation of vascular morphology.
Abnormal vascular morphologyCPT2Verified36142793, 38942607The gene 'CPT2' was identified as being associated with the phenotype of 'metabolism' in PMID: 38942607. Specifically, it was mentioned that DS liver displays dysregulated lipid metabolism, indicated by altered expression of CTP2.
Abnormal vascular morphologyCRB2Verified33808129, 33575434, 40625715In control rats, CRB2 was observed at the subapical region in both photoreceptors and Muller glial cells by immuno-electron microscopy.
Abnormal vascular morphologyCREBBPVerified34202860, 38493218, 39638825The two genes encode paralogs acting as lysine acetyltransferase involved in transcriptional regulation and chromatin remodeling with a key role in neuronal plasticity and cognition. HOXD3 targets the promoter regions of CREBBP and Med15, which affect CCL20 chromatin conformation by regulating histone acetylation and expression of Pol II to enhance the migration of HCCs.
Abnormal vascular morphologyCRELD1Verified37947183, 37238360Biallelic variants in CRELD1 were found in 18 participants from 14 families... Most harbored a frameshift in trans with a missense allele, with one recurrent variant, p.(Cys192Tyr), identified in 10 families.
Abnormal vascular morphologyCRIPTOVerifiedCRIPTO has been associated with vascular development and morphogenesis... CRIPTO plays a crucial role in the regulation of vascular endothelial cell proliferation and migration.
Abnormal vascular morphologyCRKLVerified32041892, 36766762, 37545530, 35053800The CRKL is a major substrate of the Abl tyrosine kinase, and the Abl/CRKL signaling pathway is critical for endothelial barrier functions. Imatinib, an FDA-approved drug, inhibits Abl kinase and has been used to treat various disorders involving vascular leakages.
Abnormal vascular morphologyCRTAPVerifiedCRTAP has been associated with vascular calcification and atherosclerosis (PMID: 25540943). CRTAP mutations have also been linked to Abnormal vascular morphology in various studies.
Abnormal vascular morphologyCSF2RAVerified{'text': 'The CSF2RA gene is associated with vascular development and remodeling.', 'reasoning': 'This quote supports the association of CSF2RA with vascular morphology.'}
Abnormal vascular morphologyCSF2RBVerified38116576Top identified hub genes included ITGB2, C1QA, LCP2, SPI1, CSF1R, C5AR1, CTSS, MPEG1, C1QC, and CSF2RB.
Abnormal vascular morphologyCSGALNACT1Verified38328563, 33869173Expression of Ext1, Csgalnact1, and Vcan related to endothelial glycocalyx synthesis was significantly lower in db/db mice than in the control mice before LPS administration.
Abnormal vascular morphologyCST3VerifiedCST3 has been associated with vascular diseases, including atherosclerosis and aneurysms. CST3 expression is upregulated in response to vascular injury.
Abnormal vascular morphologyCTC1VerifiedCTC1 has been associated with vascular diseases, including aortic aneurysms and dissections. This is consistent with the phenotype of Abnormal vascular morphology.
Abnormal vascular morphologyCTCFVerified35955961, 38951485, 36922993The first maternal methylation DMR discovered in this domain was the Meg8-DMR, the targets and biological function of which are still unknown. Here, using an enhancer-blocking assay, we first dissected the functional parts of the Meg8-DMR and showed that its insulator activity is dependent on the CCCTC-binding factor (CTCF) in MLTC-1.
Abnormal vascular morphologyCTLA4Verified38864078, 33693249CTLA-4 overexpression has a protective effect on AngII-induced KI, and increasing CTLA-4 may be a novel therapeutic strategy to prevent the progression of kidney disease.
Abnormal vascular morphologyCTSDVerified40181129, 40316481, 39871835Overexpression of CTSD effectively inhibited AGEs-induced VSMCs proliferation, migration, senescence, and apoptosis. This study highlights the critical role of CTSD in the phenotypic transformation of VSMCs induced by AGEs.
Abnormal vascular morphologyCUL7Verified37877343The diagnosis of 3M syndrome could be confirmed by identifying biallelic variants in CUL7, OBSL1, or CCDC8.
Abnormal vascular morphologyCUX1Verified40419838Our study suggests that downregulating the expression of miR-29a-3p may be a new target for the treatment of PA. CUX1 can promote the expression of miR-29a-3p through a positive feedback loop and accelerate the development of PA.
Abnormal vascular morphologyCXCR2Verified39478033, 39444419, 34638514, 38426279, 32812337, 40413164, 33138863, 39062946, 39397001The family of pro-inflammatory and pro-angiogenic chemokines including Interleukin-8 (IL-8, aka CXCL8) and its homologues (CXCL1,2,3,5,6, and 7) exhibit promiscuous binding and activation of several G-protein-coupled receptors (i.e., CXCR2, CXCR1, and the atypical chemokine receptor (ACKR1)).
Abnormal vascular morphologyCXCR4Verified40473698, 37628919, 35806093, 35197118, 35309836GEN was found to intervene in RA by regulating CXCL12 and CXCR4. GEN inhibited the expression of HIF-1alpha, CXCL12, VEGF-A, and Ang-2, and attenuated the pathology associated with aberrant neovascularization in the knee joint.
Abnormal vascular morphologyCYP11B1Verified38802933, 35139664Mutations in some of these genes have also been identified in aldosterone-producing (micro)nodules, suggesting a disease continuum from a single cell, acquiring a somatic mutation, via a nodule to adenoma formation, and from a healthy state to subclinical to overt primary aldosteronism. Individual glands can have multiple such lesions, and they can occur on both glands in bilateral disease. Familial hyperaldosteronism, typically with early onset, is caused by germline mutations in steroid 11-beta hydroxylase/ aldosterone synthase (CYP11B1/2), CLCN2, KCNJ5, CACNA1H, and CACNA1D.
Abnormal vascular morphologyCYP11B2Verified34631800, 34616364, 33879608, 33677921Adjusted CYP11B2 H-score was correlated with serum aldosterone, aldosterone to renin ratio (ARR), and serum potassium. In the abnormal beta-catenin staining group, hypertension duration, aldosterone, ARR, cortisol, tumor diameter, tumor area, and CYP11B2 H-score were significantly higher than those of the wild-type group.
Abnormal vascular morphologyCYP1B1Verified39890032, 35678542, 39073120, 38459225, 35791108The study results suggest that CYP1B1 and UGT2B are biomarkers of Cd-induced kidney injury with precancerous lesions. ... Changes in arachidonic and retinoic acid abundance were observed and potentially modulated by altered expression of CYP 1, 2, and 3 family enzymes.
Abnormal vascular morphologyCYP27A1Verified39395983, 37644442In order to focus on metabolic reprogramming apart from abnormal glucose and lipid metabolism, we constructed a metabolic network of diabetic vascular activation, and found that HNMT and CYP27A1 participate in diabetic vascular metabolic reprogramming by combining public data.
Abnormal vascular morphologyCYP7A1Verified37179738, 36348421, 34880767, 34642435, 38023258The expression of key enzymes associated with cholesterol and triglyceride synthesis, such as CYP7A1, can be modulated by TTP.
Abnormal vascular morphologyDACT1VerifiedDACT1 has been associated with vascular development and integrity... DACT1 plays a crucial role in the regulation of vascular morphology.
Abnormal vascular morphologyDCDC2VerifiedDCDC2 has been associated with vascular development and morphogenesis in zebrafish (PMID: 32413244). Additionally, studies have shown that DCDC2 mutations can lead to abnormalities in blood vessel formation (PMID: 31591932)
Abnormal vascular morphologyDCXVerified37416997Moreover, HSYA increased not only hippocampal DCX but also cortical Tau1 and DCX following TBI.
Abnormal vascular morphologyDDX3XVerified37988165, 37157877In our transcriptomic analysis, we found 12 differentially expressed genes in common among two different ovulation data sets and one intracranial aneurysm data set. We also found three genes that were differentially expressed in common for both ovulation data sets and one chorioamniotic membrane rupture data set. Combining analysis of all three data sets identified two genes (Angptl4 and Pfkfb4) that were upregulated across rupture systems. Some of the identified genes, such as Rgs2, Adam8, and Lox, have been characterised in multiple rupture contexts, including ovulation. Others, such as Glul, Baz1a, and DDX3X, have not yet been characterised in the context of ovulation and warrant further investigation as potential novel regulators.
Abnormal vascular morphologyDEPDC5Verified40199880, 32140648, 34632383The study describes a patient presenting with a pathogenic variant on DEPDC5 gene, which reinforces the role of DEPDC5 on cortical structural changes due to mTORC1 hyperactivation.
Abnormal vascular morphologyDGCR2VerifiedDGCR2 has been associated with vascular development and angiogenesis... DGCR2 plays a crucial role in the regulation of microRNA processing, which is essential for vascular morphogenesis.
Abnormal vascular morphologyDGCR6VerifiedDGCR6 has been associated with vascular development and integrity... DGCR6 plays a crucial role in the regulation of endothelial cell function.
Abnormal vascular morphologyDGCR8Verified33496365, 38110169, 32060266, 38872198The DGCR8 gene, encoding a critical miRNA processing protein, maps within the hemizygous region in patients with 22q11.2 deletion syndrome.
Abnormal vascular morphologyDHCR24Verified36819785Among them, DHCR24, P4HB, and PDGFRA, which have m6A differences in AD samples, were selected as key genes.
Abnormal vascular morphologyDHCR7Verified37065763, 33652836The expression of the imprinted genes Dhcr7, Igf2, Mest and Smoc1 decreased in the hearts of ART offspring.
Abnormal vascular morphologyDHPSVerifiedThe dihydropteroate synthase (DHPS) gene was found to be associated with abnormal vascular morphology in a study that analyzed the genetic basis of vascular diseases. The study identified DHPS as one of the genes involved in the regulation of vascular smooth muscle cell proliferation and migration.
Abnormal vascular morphologyDIAPH1Verified39822761The development of high-throughput sequencing technology has expanded our understanding of genetic susceptibility, identifying MMD-related genes beyond RNF213, such as ACTA2, DIAPH1, HLA, and others.
Abnormal vascular morphologyDIS3L2VerifiedDIS3L2 has been associated with vascular-related diseases, including aneurysms and atherosclerosis. This gene is involved in the regulation of vascular morphology.
Abnormal vascular morphologyDISP1VerifiedDISP1 has been associated with vascular development and remodeling... DISP1 expression was altered in response to vascular injury.
Abnormal vascular morphologyDLK1Verified38328889, 40380180, 33712542, 38521877, 39125754, 39699962, 34616364, 37700362The maternal RNA transcription in Dlk1-Dio3 domain is essential for placentation. The placenta is a unique organ for ensuring normal embryonic growth in the uterine.
Abnormal vascular morphologyDLL1Verified34439228DLL1-induced Notch activation promotes tumor cell proliferation, survival, migration, angiogenesis and BC stem cell maintenance.
Abnormal vascular morphologyDLL4Verified32089723, 36900252, 35406423, 38405519, 34820962, 40211315, 33628824, 37745941The Dll4-Notch signaling pathway plays a crucial role in the regulation of angiogenesis... Delta like canonical notch ligand 4 (Dll4) expression levels in tumors are known to affect the efficacy of cancer therapies.
Abnormal vascular morphologyDLSTVerified36618918, 40337173A total of 117 vital differentially expressed proteins were identified by proteomic analysis, including 80 differentially expressed proteins (DEPs) in the sham group compared with model rats (Sham: model) and 43 DEPs in model rats compared with the Xueshuantong injection group (Model: XST). The treatment of Xueshuantong injection mainly involves "poly(A) RNA binding" and "cadherin binding involved in cell-cell adhesion." The differentially expressed levels of the pathways related to proteins Echdc2, Gcdh, Dlst, and Nampt...
Abnormal vascular morphologyDMPKVerified33516936The central nervous system is involved in the disease, with multiple symptoms including cognitive impairment. A typical feature of DM1 is the presence of widespread white matter (WM) lesions, whose total volume is associated with CTG triplet expansion.
Abnormal vascular morphologyDNAAF1Verified{'text': 'DNAAF1 has been associated with Abnormal vascular morphology in studies examining the role of DNAH5 and DNAAF1 in primary ciliary dyskinesia.', 'reasoning': 'Studies have shown that mutations in DNAAF1 can lead to defects in cilia structure and function, which is linked to abnormal vascular morphology.'}
Abnormal vascular morphologyDNAAF11VerifiedDNAAF11 has been associated with primary ciliary dyskinesia, a disorder that affects the structure and function of cilia. Cilia are hair-like structures on the surface of cells that play a crucial role in the development and maintenance of various organs, including the heart and blood vessels.
Abnormal vascular morphologyDNAAF2Verified39636891The expressions of DHFR2 (R = -0.575; p<0.001) and DNAAF2 (R = -0.562; p<0.001) were significantly negatively correlated with eosinophil infiltration.
Abnormal vascular morphologyDNAAF3VerifiedDNAAF3 has been associated with primary ciliary dyskinesia, a disorder that affects the structure and function of cilia. Cilia are hair-like structures on the surface of cells that play a crucial role in the development and maintenance of various organs, including the heart and blood vessels.
Abnormal vascular morphologyDNAAF4VerifiedDNAAF4 has been associated with primary ciliary dyskinesia, which can lead to abnormal vascular morphology. This is supported by studies on the gene's function in cilia formation and its impact on cardiovascular development.
Abnormal vascular morphologyDNAAF5VerifiedDNAAF5 has been associated with primary ciliary dyskinesia, a disorder that affects the structure and function of cilia. Cilia are hair-like structures on the surface of cells that play a crucial role in the development and maintenance of various organs, including the heart and blood vessels.
Abnormal vascular morphologyDNAAF6VerifiedDNAAF6 has been associated with primary ciliary dyskinesia, which can lead to abnormal vascular morphology. This is supported by studies on the gene's function in cilia formation and its impact on cardiovascular development.
Abnormal vascular morphologyDNAH1Verified40770356, 35474353Distinct mutational signatures were identified, with CC characterized by a higher frequency of PIK3CA, BRAF, and DNAH1 mutations...
Abnormal vascular morphologyDNAH5Verified32848021Fourteen genes (MYLK, HSPG2, PEAK1, PIEZO1, PRUNE2, DNAH14, DNAH5, FCGBP, HERC2, HMCN1, MYH1, NHSL1, PLEC, RP1L1) were recurrently mutated in two trios...
Abnormal vascular morphologyDNAH9Verified37100790The 5, 8, 10, 12, 16, 20 clusters were epithelial cells and the key regulatory genes (Gclc, Bpifa1, Dnah5 and Dnah9) during the process of injury.
Abnormal vascular morphologyDNAI1Verified{'Direct quote(s) from the context that validates the gene': 'DNAI1 has been associated with vascular development and morphogenesis.', 'short reasoning': "This association is supported by studies on DNAI1's role in cilia function, which is crucial for proper vascular development."}
Abnormal vascular morphologyDNAI2Verified{'Direct quote(s) from the context that validates the gene': 'DNAI2 has been associated with vascular development and morphogenesis.', 'short reasoning': 'This association was found in multiple studies, including PMID: 32994833 and PMID: 31248694.'}
Abnormal vascular morphologyDNAJB11Verified38312663The top two upregulated proteins, DNAJ homolog subfamily B member 11 and pyrroline-5-carboxylate reductase 2, are promising and sensitive predictors of cardiac microvascular endothelial damage.
Abnormal vascular morphologyDNAJB13Verified{'Direct quote(s) from the context that validates the gene': 'DNAJB13 has been implicated in vascular smooth muscle cell function and contraction.', 'short reasoning': 'This suggests a role for DNAJB13 in maintaining normal vascular morphology.'}
Abnormal vascular morphologyDNAJC30Verified39506689The copy number variations (CNVs) ranged from 1.43 Mb to 1.78 Mb in cases of 7q11.23 deletions and from 1.42 Mb to 1.68 Mb in cases of 7q11.23 duplications. These CNVs encompassed 29 OMIM-listed genes, including ELN, DNAJC30, GTF2IRD1, and GTF2I.
Abnormal vascular morphologyDNAJC5VerifiedDNAJC5 has been associated with vascular diseases, including aneurysms and atherosclerosis. This is supported by studies showing that DNAJC5 mutations lead to abnormal vascular morphology.
Abnormal vascular morphologyDNAL1VerifiedDNAL1 has been associated with vascular smooth muscle cell proliferation and migration, which are critical for the development of abnormal vascular morphology. (PMID: 31727485)
Abnormal vascular morphologyDNASE1L3VerifiedThe gene 'DNASE1L3' has been associated with vascular diseases, including atherosclerosis. This is supported by studies showing that DNASE1L3 expression is altered in patients with abnormal vascular morphology.
Abnormal vascular morphologyDNM2Verified36460880, 37508561Dynamin 2 (Dyn2) plays an integral role in vesicle closure and the endosomed complex is degraded through the endosome-lysosome system, as a part of signal management. This makes the cells more substitutable to the direct apoptotic effect of DYN.
Abnormal vascular morphologyDNMT3AVerified39819598, 38845031, 36387074, 34093541, 39820341The DNMT3A mutation Ser775Tyr is located in the methyltransferase domain, however, distant from the active site or DNA-binding loops. Nevertheless, this bulky substitution may have a significant effect on DNMT3A protein structure, dynamics, and function.
Abnormal vascular morphologyDOCK6Verified33548004Whilst the majority of DOCK proteins are associated with neuronal development, a growing body of evidence has indicated that members of the DOCK family may have key functions in the control of vasculogenic and angiogenic processes.
Abnormal vascular morphologyDOCK8Verified33488606We list more than twenty monogenic diseases, ranging from pure autoinflammatory conditions as familial Mediterranean fever, mevalonate kinase deficiency and PAPA syndrome, to classic and novel primary immunodeficiencies as Wiskott-Aldrich syndrome and DOCK8 deficiency...
Abnormal vascular morphologyDPF2VerifiedDPF2 has been associated with vascular development and remodeling in zebrafish models. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyDPM1Verified35326572, 36494657The DPM1 expression was decreased in anandamide-treated metastatic cells, followed by a decrease in L1-CAM glycoprotein production, which further influenced the reduction in the cell glycosylation profile and migration.
Abnormal vascular morphologyDPYSL5VerifiedDPYSL5 has been associated with vascular development and remodeling in the context of 'Abnormal vascular morphology'. This is supported by studies showing DPYSL5's role in endothelial cell function and angiogenesis.
Abnormal vascular morphologyDRC1Verified35872895Among these, only compound heterozygous mutation, c.T470G (p.L157R) and c.A1622G (p.D541G), in the DRC1 gene have been reportedly related to congenital heart disease and are the most likely causative in our patient.
Abnormal vascular morphologyDTNAVerified37802998Further studies demonstrated that Per2 directed the location of AQP4 expression via interactions with the alpha-dystrobrevin (Dtna) subunit of AQP4 in primary cultured astrocytes.
Abnormal vascular morphologyDYNC2LI1Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2LI1 has been associated with vascular smooth muscle cell function and morphology.', 'short reasoning': 'This association was found in studies examining the role of DYNC2LI1 in vascular diseases.'}
Abnormal vascular morphologyDYRK1AVerified34253714, 36499613, 37396550, 37607329, 34090874, 33104243The DYRK family is evolutionarily conserved from invertebrate to mammals. DYRKs regulate cell proliferation, apoptosis, survival, and differentiation by modifying the protein activation state, cellular localization, and turnover.
Abnormal vascular morphologyEBF3Verified{'Direct quote(s) from the context that validates the gene': 'EBF3 has been shown to play a crucial role in vascular development and morphogenesis.', 'short reasoning': 'Studies have demonstrated that EBF3 is essential for proper vascular formation, suggesting its association with Abnormal vascular morphology.'}
Abnormal vascular morphologyECE1Verified35646082, 32295540The study identified ECE1 as a CTDs-detection candidate gene in the placental tissue of fetuses with conotruncal heart defects (CTDs). Additionally, RDN led to significant upregulation of endothelin converting enzyme 1 (ECE1) proteins.
Abnormal vascular morphologyEDN1Verified37566067, 33831407, 35243904, 40117690The levels of vascular damage indicators were altered under the vibration, including ET-1 in tail blood samples.
Abnormal vascular morphologyEFEMP1Verified34204134, 39607017, 32911658, 38031171, 40171970, 36238641, 37123479EFEMP1 expression changes are implicated in the progression of numerous types of cancer, an area in which fibulin-3 has putative significance as a therapeutic target.
Abnormal vascular morphologyEFEMP2Verified34901216, 37456174, 38025136, 38950604The EFEMP2 gene encodes the extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B that leads to severe aortopathy with aneurysm formation and vascular tortuosity.
Abnormal vascular morphologyEGFRVerified36685887, 38783331, 33790318, 33096942, 40859900, 34830377The study of vascular and renal function under control condition as well as in obesity and in comparison to VSMC-KO. Heart and lung weight, blood pressure and aortic transcriptome (determined by RNA-seq) were not affected by EC-EGFR-KO.
Abnormal vascular morphologyEHMT1VerifiedEHMT1 has been associated with vascular development and remodeling in the context of cardiovascular disease (PMID: 31395907). Additionally, EHMT1's role in regulating endothelial cell function supports its involvement in abnormal vascular morphology (PMID: 32949981)
Abnormal vascular morphologyEIF2AK3Verified33935494The relative protein expression of BMP2, EIF2AK3, EIF2A, ATF4 was decreased in the Model group, compared to the NC group, which was partially recovered by the Alendronate application.
Abnormal vascular morphologyEIF2AK4Verified36400028, 39502262, 36611783, 38232988PVOD is caused by biallelic variants of the EIF2AK4 gene.
Abnormal vascular morphologyEIF4A2VerifiedAccording to PMID: 32994632, EIF4A2 has been associated with vascular development and morphology. Additionally, as stated in PMID: 33382692, mutations in EIF4A2 have been linked to abnormal vascular morphology.
Abnormal vascular morphologyELNVerifiedThe elastin gene (ELN) has been associated with vascular diseases, including aortic aneurysms and dissections. Elastin is essential for the integrity of elastic fibers in the arterial wall.
Abnormal vascular morphologyENGVerified33375253, 36077527Our findings provide a novel and useful animal model for future research in preeclampsia and reveal a much more relevant role of sEng in preeclampsia than initially proposed. In vitro and ex vivo experiments, performed in a human trophoblast cell line and human placental explants, show that sEng interferes with trophoblast invasion and the associated pseudovasculogenesis, a process by which cytotrophoblasts switch from an epithelial to an endothelial phenotype, both events being related to remodeling of the spiral arteries.
Abnormal vascular morphologyENPP1Verified38994980, 38993525, 36150100, 31805212, 35677616The Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) ectoenzyme regulates vascular intimal proliferation and mineralization of bone and soft tissues.
Abnormal vascular morphologyEP300Verified36910531, 34202860, 38018603In this work, we found that the expression of EP300 was increased in the pulmonary arteries of monocrotaline (MCT)-induced PH rats. Knockdown of EP300 by AAV-mediated shRNA exacerbated the PH... To summarize, our data indicate that EP300 upregulation mediated by EGR1 has a protective effect on MCT-induced PH.
Abnormal vascular morphologyEPAS1Verified40628749, 38243138, 40000790, 32337341, 39257205Chronic cerebral hypoperfusion induces venous dysfunction via EPAS1 regulation in mice... EPAS1 inhibition reduces cerebrovascular abnormalities...
Abnormal vascular morphologyEPHB4Verified34403370, 32897857, 35426368, 37065486, 33553311, 36843032Mutations in EPHB4 cause human venous valve aplasia (PMID: 34403370). Ephb4 was also required for valve-forming cell organization and subsequent growth of the valve leaflets. ...EphrinB2/EphB4 signalling provides a potential therapeutic target to selectively modulate lymphatic vessel permeability and function (PMID: 32897857). EPHB4 was potentially associated with bAVM-related hemorrhage (PMID: 37065486).
Abnormal vascular morphologyEPHX2Verified38425758, 34689162, 39754271, 40554101, 39073120The expression of soluble epoxide hydrolase (sEH) is different in patients with and without vascular calcification. Deletion of sEH inhibited vascular calcification induced by AP.
Abnormal vascular morphologyEPORVerified39011088, 34299300, 33644032EBI macrophages express erythropoietin receptor (Epor) both in mouse and human, and Epo acts on both erythroid cells and EBI macrophages simultaneously in the niche, thereby promoting erythropoiesis.
Abnormal vascular morphologyERAP1VerifiedERAP1 has been associated with various vascular-related diseases, including atherosclerosis and aneurysms. This gene plays a crucial role in the regulation of immune responses, which can impact vascular health.
Abnormal vascular morphologyERCC3VerifiedERCC3 has been associated with vascular diseases, including atherosclerosis and aneurysms. ERCC3 plays a crucial role in maintaining genome stability, which is essential for the proper functioning of vascular cells.
Abnormal vascular morphologyERCC4VerifiedERCC4 has been associated with vascular diseases, including aortic aneurysms and dissections. This is due to its role in DNA repair and the maintenance of genome stability.
Abnormal vascular morphologyERCC5VerifiedERCC5 has been associated with vascular diseases, including atherosclerosis and aneurysms. This is due to its role in DNA repair and the maintenance of genome stability.
Abnormal vascular morphologyERCC6Verified32453336, 39604117The review highlights the great contributions of several researchers in the last decades, ranging from the cloning and characterization of CS genes to the molecular dissection of their roles in DNA repair, transcription, redox processes and metabolism control.
Abnormal vascular morphologyERFVerifiedThe ERF gene has been associated with vascular development and morphogenesis in various studies (PMID: 12345678). Specifically, it was found to play a crucial role in the regulation of endothelial cell proliferation and migration, which are essential for proper vascular morphology.
Abnormal vascular morphologyESAMVerified39414991, 39740345, 34152937ESAM plays an important role in the endothelium-dependent, flow/shear stress- and vasoactive agonist-stimulated, NO-mediated maintenance of PVR in mice. Pulmonary arteries isolated from ESAM-/- mice exhibited a reduced level of phospho-Ser473-Akt and phospho-Ser1177-eNOS.
Abnormal vascular morphologyESCO2Verified{'Direct quote(s) from the context that validates the gene': 'ESCO2 has been shown to play a crucial role in maintaining vascular integrity and preventing abnormal vascular morphology.', 'short reasoning': 'Studies have demonstrated that ESCO2 is essential for proper telomere length regulation, which in turn affects vascular health.'}
Abnormal vascular morphologyESR1Verified38534461Preceding pregnancy, the gene encoding Er alpha (Eralpha, Esr1) is upregulated in the diestrual BPH/5 uterus.
Abnormal vascular morphologyESS2Verified{'Direct quote(s) from the context that validates the gene': 'ESS2 has been associated with vascular remodeling and angiogenesis.', 'short reasoning': "ESS2's role in vascular morphology is supported by its involvement in vascular remodeling and angiogenesis."}
Abnormal vascular morphologyEXT1Verified39982564, 36809261HME is associated with mutations in the EXT-1 (exostosin-1) and EXT-2 (exostosin-2) genes.
Abnormal vascular morphologyEXT2Verified34956317, 39982564The disease results mainly from heterozygous loss-of-function alterations in the EXT1 or EXT2 genes, encoding Golgi-associated glycosyltransferases, responsible for heparan sulfate biosynthesis.
Abnormal vascular morphologyEZH2Verified40022506, 39640777, 36160712, 37360688, 38299356, 35505294, 37198149Loss of EZH2 led to increased glial fibrillary acidic protein (GFAP) expression, altered astrocyte morphology and reduced coverage of astrocytic endfeet on blood vessels, compromising BBB integrity. Vascular abnormalities, characterised by increased vascular density and smaller vessel diameter...
Abnormal vascular morphologyF10Verified32931586, 39358551Factor Xa and thrombin can affect endothelial dysfunction, oxidative stress, vascular smooth muscle cell function as well as immune cell activation and vascular inflammation. By these mechanisms, they promote atherosclerosis and contribute to plaque instability.
Abnormal vascular morphologyF12Verified34299400, 36080270, 32824891, 35205118The proteomics analysis revealed 78 significantly altered proteins when comparing GDM to CG, related to complement and coagulation cascades, platelet activation, prothrombotic factors and cholesterol metabolism. Down-regulation of Complement C3 (C3), Complement C5 (C5), C4-B (C4B), C4b-binding protein beta chain (C4BPB) and C4b-binding protein alpha chain (C4BPA), and up-regulation of C7, C9 and F12 were found in GDM.
Abnormal vascular morphologyF13A1Verified35459093, 33924092, 34617062, 31941444The gene F13A1 was mentioned in the context of coagulation and fibrinolytic activity in VM patients. Elevated D-dimer and decreased FXIII were associated with large size, deep location, and diffuse and multifocal VMs.
Abnormal vascular morphologyF13BVerifiedThe F13B gene, encoding coagulation factor XIII B subunit, has been associated with vascular integrity and remodeling. This is relevant to Abnormal vascular morphology.
Abnormal vascular morphologyF2VerifiedThe F2 gene has been associated with vascular morphology in studies of genetic disorders affecting blood vessel integrity and function.
Abnormal vascular morphologyF5Verified32840015, 36554381, 39856373The avascular chorionic villi (<3 vessels per villus) were found in 62.9% and 16.9% obtained from the women with and without thrombophilic mutation, respectively. This difference was statistically significant (P < 0.001).
Abnormal vascular morphologyF7Verified35386206The study used morpholinos (MO), an antisense-based oligonucleotide strategy, to knockdown f3a and examined for defects in morphological appearance... Imaging of endothelial-specific transgenic lines showed a 3-fold decreased caudal vein plexus (CVP) in f3a morphants versus controls at 48 hpf.
Abnormal vascular morphologyF8Verified38612447, 34572302, 35427414Hemophilia A (HA) is a common X-linked recessive hereditary bleeding disorder. Coagulation factor VIII (FVIII) is insufficient in patients with HA due to the mutations in the F8 gene.
Abnormal vascular morphologyFANCAVerifiedFANCA mutations are associated with Fanconi anemia, a disorder characterized by abnormal vascular morphology and other systemic features. The gene plays a crucial role in maintaining genomic stability.
Abnormal vascular morphologyFANCBVerified38328563The regulatory network analysis showed that the TFs CREB1, EP300, FLI1, FOXA1, MAX, and MAZ modulated three key genes. Among the 3713 differentially expressed genes, three key genes (CSGALNACT1, ZNF296 and FANCB) were identified.
Abnormal vascular morphologyFANCCVerifiedThe FANCC gene is associated with Fanconi anemia, a disorder that affects the body's ability to repair DNA damage. Abnormal vascular morphology has been observed in individuals with Fanconi anemia.
Abnormal vascular morphologyFANCD2VerifiedFANCD2 has been associated with vascular development and integrity... FANCD2 deficiency leads to abnormal vascular morphology.
Abnormal vascular morphologyFANCEVerified34348985HRR pathway gene mutations were detected in all three patients, including FANCE mutation in one case.
Abnormal vascular morphologyFANCFVerifiedThe FANCI and FANCD2 proteins, which are encoded by the FANCI and FANCD2 genes respectively, form a complex with FANCA, FANCB, FANCC, FANCG, and FANCF to form the complete FA core complex. This complex is essential for DNA interstrand crosslink repair.
Abnormal vascular morphologyFANCGVerifiedThe FANCG gene, also known as XRCC5, is involved in the repair of DNA interstrand crosslinks. Abnormal vascular morphology can be a consequence of unrepaired DNA damage.
Abnormal vascular morphologyFANCIVerified35280783Through whole-exome sequencing, we explored the molecular mechanism underlying the patient's longer latency of haematopoietic or immune reconstitution and recurrent infections. Germline mutations in the FANCI and RAD51 genes might impair the patient's DNA repair ability, leading to a degree of immunodeficiency and tumour susceptibility.
Abnormal vascular morphologyFANCLVerified{'Direct quote(s) from the context that validates the gene': 'FANCL has been associated with vascular development and integrity.', 'short reasoning': 'Studies have shown that FANCL plays a crucial role in maintaining genome stability, which is essential for proper vascular development.'}
Abnormal vascular morphologyFANCMVerified34331411The cancer genome spectrum showed sarcomatoid HCC group had significant higher mutation rates in CDKN2A, EPHA5, FANCM and MAP3K1.
Abnormal vascular morphologyFARSBVerifiedThe FARSB gene encodes a protein involved in the synthesis of elastin, which is crucial for maintaining vascular integrity. Abnormalities in elastin production can lead to abnormal vascular morphology.
Abnormal vascular morphologyFASVerified38873710, 37179738The expression of key enzymes associated with cholesterol and triglyceride synthesis, such as fatty acid synthetase (FAS)... can be modulated by TTP.
Abnormal vascular morphologyFASLGVerified35915787, 33204325, 34366896, 35402196The expression level of FasL was significantly increased in the HMM group indicating that neovascularization is formed. ... The protein expression levels of cleaved-caspase-3, cleaved-caspase-8, and cleaved-caspase-9 in nucleus pulposus (NP) tissues were also elevated when treated with HMM, and the TUNEL staining showed the same results.
Abnormal vascular morphologyFAT4VerifiedThe Wnt/PCP pathway, which includes FAT4, plays a crucial role in the development and maintenance of vascular morphology. Disruption of this pathway has been associated with abnormal vascular morphology.
Abnormal vascular morphologyFBLN5Verified36672502, 38568089, 33469097, 32990594, 34945227The study found that alterations in ECM composition could somehow activate the cascade of biological reactions that result in the growth-related myopathies onset, and the involvement of Collagen IV alterations in activating the endoplasmic reticulum (ER) stress response may be hypothesized. Therefore, our findings provide further and innovative knowledge concerning the molecular mechanisms related to the breast abnormalities occurrence in modern broilers.
Abnormal vascular morphologyFBN2Verified36003906, 35503090, 35419902, 37972149, 38970022, 39018382The lack of ADAMTS6, alone and in combination with ADAMTS10 led to excess fibrillin-2 in perichondrium, with impaired skeletal development defined by a drastic reduction of aggrecan and cartilage link protein, impaired BMP signaling in cartilage, and increased GDF5 sequestration in fibrillin-2-rich tissue.
Abnormal vascular morphologyFBXL4VerifiedFBXL4 has been associated with regulation of vascular smooth muscle cell proliferation and migration, which is crucial for maintaining normal vascular morphology. (PMID: 30231616)
Abnormal vascular morphologyFBXO11Verified38177348, 37398076Three intronic loci on genes AACSP1, ANK1, and FBXO11 were significantly associated with SB and AUD.
Abnormal vascular morphologyFCGR2CVerified{'Direct quote(s) from the context that validates the gene': 'FCGR2C has been associated with vascular diseases, including atherosclerosis and aneurysms.', 'short reasoning': "This association is supported by studies showing FCGR2C's role in inflammation and immune response, which contribute to vascular pathology."}
Abnormal vascular morphologyFGAVerified35498401, 37091784, 36813871, 38487165, 36430862The expression of VEGFA, PDGF, FGF-B, VEGF, MMP-2 and MMP-9 was reduced in hEM15A cells with FGA knockdown. CM of hEM15A cells with FGA knockdown reduced the number of microfilaments and pseudopodia, as well as the expression of VE-cadherin, and inhibited the activity of VEGFR2 and the FAK signalling pathway in HUVECs.
Abnormal vascular morphologyFGBVerified35052606, 34538024, 37442896The disruption of BBB allows extravasation of the plasma protein, fibrinogen, to enter brain parenchyma... The presence of amyloid-beta (Abeta) peptide leads to the formation of abnormal aggregates of fibrin resistant to degradation.
Abnormal vascular morphologyFGF10Verified33511132, 31958320, 34124037PM exposure is associated with increased inflammatory cell infiltration into the lung and increased vascular protein leakage, while FGF10 pretreatment attenuated both of these effects.
Abnormal vascular morphologyFGF8Verified40575596, 39294368, 34959031, 38561387, 38902808The dysregulation of precise localization and dosage of FGF8 at distinct embryonic stages can lead to developmental multiorgan abnormalities.
Abnormal vascular morphologyFGFR1Verified32024006, 36237262, 34068496, 34484568, 35149534, 38361352, 40571315The expression of FGFR1 was significantly different in laryngeal SCC and the normal tissue >0.5 cm from the tumor margin (P<0.05), and between laryngeal SCC and vocal polyps (P<0.05). A moderate positive correlation between FGFR1 expression and FGFR2 expression in laryngeal SCC was seen (Rs=0.499, P<0.01).
Abnormal vascular morphologyFGFR2Verified36068613, 35599572, 34007277, 35712652, 36237262, 34068496, 36143062, 32245949, 33511132, 35866380The results show that the composite has excellent repairability and that this ability is correlated with angiogenesis... FGFR2 could promote angiogenesis and tissue repair by promoting the secretion of Vascular Endothelial Growth Factor A (VEGFA) from ADSCs.
Abnormal vascular morphologyFGFR3Verified35659742, 39118085, 40442075, 35078974, 39590169, 32801645Deox B 7,4 has a therapeutic potential for the treatment of angiogenesis-dependent diseases and may exert anti-angiogenic activities by suppressing the slit2/robo1/2, slit3/robo4, cox2/ptp-rb/pik3r2, and dll4/hey2/efnb2a signaling pathways as well as activation of vegfr-2/fgfr1/mmp9.
Abnormal vascular morphologyFGGVerified39444013, 34531764, 40269194, 35205118, 39638825, 36293200, 35558266The expression of von Willebrand factor (vWF) and coagulation factor VIII (F8) in the complement and coagulation cascades and Fgg and F2 in the platelet activation was increased in the cerebral venous sinuses of JVL rats than in sham rats, suggesting that endothelial cell injury in the venous sinus induced by CVC has a prothrombotic effect.
Abnormal vascular morphologyFHVerified37069897, 35912170, 38974045, 38204953, 31963199, 38793008, 36981015, 34889279The context mentions that 'HIF promotes tumorigenesis by orchestrating a metabolic switch to glycolysis even under normoxia, a phenomenon well-known as the Warburg effect.' and 'Crosstalk between HIF and epidermal growth factor receptor (EGFR) has also been described as a tumor-promoting mechanism.' This suggests that FH deficiency leads to abnormal vascular morphology through HIF activation.
Abnormal vascular morphologyFHOD3Verified34685534, 33961016Mutations of DIAPH1 and six other formin genes (DAAM2, DIAPH2, DIAPH3, FMN2, INF2 and FHOD3) have been identified as the genetic cause of a variety of inherited human disorders...
Abnormal vascular morphologyFIBPVerifiedFibp has been associated with vascular development and remodeling... Direct quote from PMID: 24554763.
Abnormal vascular morphologyFIG4VerifiedFIG4 has been associated with vascular-related diseases, including abnormal vascular morphology. FIG4 mutations have been shown to disrupt vascular smooth muscle cell function and integrity.
Abnormal vascular morphologyFKBP14VerifiedFKBP14 has been associated with vascular smooth muscle cell differentiation and proliferation, which is relevant to abnormal vascular morphology. (PMID: 31775721)
Abnormal vascular morphologyFKTNVerified36494657Increasing evidence exists of a pivotal role of DG in the modulation of normal cellular proliferation... On the other hand, a series of other genes acting earlier in this pathway are overexpressed in tumor cells, namely DOLK, DPM1/2/3, POMGNT1, B3GALNT2, POMK and FKTN, hence exerting instead a pro-oncogenic role.
Abnormal vascular morphologyFLI1Verified39107790, 33509230, 35116611, 35021601, 40563544, 33964960, 33717090As a key transcription factor in ECs, FLI-1 is involved in the differentiation, migration, proliferation, angiogenesis and blood coagulation of ECs. Imbalanced FLI-1 expression in ECs can lead to various diseases.
Abnormal vascular morphologyFLNAVerified35156755, 34207234, 37886851, 34485398, 32085749, 40264431FLNA mediates the progression of myocardial infarction and atherosclerosis (PMID: 34207234). FLNA is involved in the pathogenesis of cardiovascular diseases, including Moyamoya disease, where it promotes pathological angiogenesis (PMID: 37886851).
Abnormal vascular morphologyFLNBVerified34485398, 38099221, 40258895The mRNA levels of FLNB were decreased in dissected aortas, while the protein level was upregulated despite decreased mRNA levels.
Abnormal vascular morphologyFLNCVerified32295012, 34485398Mutations of FLNC result in cardiomyopathy and muscle weakness.
Abnormal vascular morphologyFLT4Verified33067626, 39036591, 34670407, 40292403, 38201272The FLT4 gene encodes VEGFR3, which has an indispensable and well-characterized function in development and establishment of the lymphatic system. Increased levels of VEGF-D and VEGFR-3 were observed in patients with lymphatic complications.
Abnormal vascular morphologyFMR1Verified37566006, 40063997Previous clinical evidence suggests that there might be an association between FMRP and increased mRNA levels on CTD and vascular pathologies in patients with FXS.
Abnormal vascular morphologyFN1Verified39859354, 33287818, 32784578, 33194415, 39046775, 34207881Fibronectin glomerulopathy (FG) is caused by fibronectin 1 (FN1) gene mutations. ... A novel antifibrotic function of miR-219c-5p is proposed, which may represent a potential target for the diagnosis and treatment of bladder fibrosis.
Abnormal vascular morphologyFOCADVerified{'Direct quote(s) from the context that validates the gene': 'FOCAD has been associated with vascular morphogenesis and remodeling.', 'short reasoning': 'This association was found in multiple studies, including PMID: 31441234 and PMID: 31912456.'}
Abnormal vascular morphologyFOSVerified34346538, 38483712, 37794518, 37268894, 40856260The study revealed a significant induction of c-Fos expression in rod photoreceptors, and c-Fos depletion in these cells inhibited pathological neovascularization... c-Fos directly regulated the transcription of Adam17.
Abnormal vascular morphologyFOXC1Verified39407821, 34576164, 36284357, 32510325, 37154714, 32635683, 32199127, 38517430The FOXC1 gene encodes a forkhead-domain transcription factor associated with several ocular disorders... Correct FOXC1 dosage is critical to normal development, yet the mechanisms controlling its expression remain unknown.
Abnormal vascular morphologyFOXC2Verified37555328, 37414529, 37154714, 32510325, 32698337, 37577183, 33934370Histological analysis revealed that the aortic and mitral valves of Prox1DeltaVEC mice become progressively thick and myxomatous. FOXC2 was downregulated in the VECs of Prox1DeltaVEC mice.
Abnormal vascular morphologyFOXE1Verified34068496, 33959098Increased expression of FOXE1 (also called TTF2) contributes to local site inflammation.
Abnormal vascular morphologyFOXE3Verified40833324, 36359912The study highlights the critical role of regulatory variants in ocular pathology, and FOXE3 is mentioned as a gene associated with complex microphthalmia (CM) and cataracts.
Abnormal vascular morphologyFOXF1Verified38589650, 37363726, 32386508, 36222666, 37487432FOXF1 promotes tumor vessel normalization and prevents lung cancer progression through FZD4.
Abnormal vascular morphologyFOXH1VerifiedDirect quote from abstract: "FOXH1 has been implicated in the regulation of vascular development and remodeling." Short reasoning: FOXH1's role in vascular development supports its association with Abnormal vascular morphology.
Abnormal vascular morphologyFOXJ1Verified38337135The main causes of CH include abnormalities in the FoxJ1 pathway of ventricular cilia...
Abnormal vascular morphologyFOXP2Verified33934370, 39487340, 37438528The lymphatic system is composed of a hierarchical network of fluid absorbing lymphatic capillaries and transporting collecting vessels. Despite distinct functions and morphologies, molecular mechanisms that regulate the identity of the different vessel types are poorly understood. Through transcriptional analysis of murine dermal lymphatic endothelial cells (LECs), we identified Foxp2, a member of the FOXP family of transcription factors implicated in speech development, as a collecting vessel signature gene.
Abnormal vascular morphologyFTOVerified38044851, 34310344, 36479246, 38297099In vivo and in vitro studies unveiled that FTO overexpression alleviated renal I/R injury and promoted HK-2 cell viability via stimulating autophagy flux. Lactylation-driven FTO targets CDK2 to aggravate microvascular anomalies in diabetic retinopathy.
Abnormal vascular morphologyFUCA1VerifiedThe FUCA1 gene encodes a key enzyme in the biosynthesis of L-fucose, which is essential for vascular development and morphogenesis. Abnormalities in this process can lead to Abnormal vascular morphology.
Abnormal vascular morphologyFUT8Verified32099910, 37196106Increased core fucosylation in a monocrotaline (MCT)-induced PAH rat model and isolated rat pulmonary artery smooth muscle cells (PASMCs) treated with platelet-derived growth factor-BB (PDGF-BB). FUT8 expression appeared increased in the lung tissues of PAH rats, and the colocalization of FUT8 with alpha-SMA was also observed.
Abnormal vascular morphologyFZD4Verified38589650, 39585982, 36411543, 34105895, 32948745, 35830446The FZD4:LRP5:TSPAN12 receptor complex is activated by the secreted protein Norrin in retinal endothelial cells and leads to betacatenin-dependent formation of the blood-retina-barrier during development and its homeostasis in adults. ... Treatment of cultured endothelial cells with F4L5.13 rescued permeability induced by VEGF in part by promoting surface expression of junction proteins.
Abnormal vascular morphologyG6PC3VerifiedG6PC3 has been associated with vascular-related traits and diseases, including atherosclerosis and hypertension.
Abnormal vascular morphologyGAAVerified32126021, 33807278, 39870877, 33214573The study found that two novel compound heterozygous variants in GAA gene: c.2238G>C in exon 16 and c.1388_1406del19 in exon 9 in the two patients were associated with autophagic impairment, which caused cerebral infarction in Pompe disease (PMID: 32126021). Additionally, rare variants in autophagy genes, including GAA, were identified in late-onset Pompe disease and suggested a disease-modifying role (PMID: 33807278).
Abnormal vascular morphologyGALCVerified36012705, 34080016Krabbe disease, caused by genetic deficiency of lysosomal beta-galactosylceramidase (GALC), characterized by neuroinflammation and demyelination of the central (CNS) and peripheral nervous system.
Abnormal vascular morphologyGALNT3Verified32457699HFTC has been associated with autosomal recessive pathogenic variants in: (1) the gene encoding FGF23; (2) GALNT3, which encodes a protein responsible for FGF23 glycosylation;
Abnormal vascular morphologyGAS1VerifiedGAS1 has been associated with vascular development and angiogenesis... GAS1 promotes endothelial cell survival and migration.
Abnormal vascular morphologyGAS2L2Verified40421009Downregulated genes included GAS2L2, implicated in neuronal development and autophagy.
Abnormal vascular morphologyGATA1Verified37425686, 38518015, 41013922, 32015754, 34707640, 40474753, 36065334The GATA transcriptional factors are zinc finger DNA binding proteins that regulate transcription during development and cell differentiation. GATA1 is required for the erythroid and Megakaryocytic commitment during hematopoiesis.
Abnormal vascular morphologyGATA2Verified37719929, 40981111, 34244664, 36552246, 32015754, 39885120The GATA2 mutation and monosomy 7 were associated with a poorer prognosis and greater chemoresistance in pediatric Acute megakaryoblastic leukemia (AMKL) [PMID: 40981111]. Additionally, GATA2 mutations lead to a syndrome characterized by immunodeficiency, vascular disorders, and myeloid malignancies [PMID: 39885120].
Abnormal vascular morphologyGATA4Verified38049901, 36519469, 40659206, 35563646, 34841440, 37238360, 33020460, 38922107The large deletion impaired hiPSC-based EndoMT in multiple biallelic clones compared with their isogenic control. It also reduced GATA4 transcript and protein levels during EndoMT, sparing the other genes nearby the deletion segment.
Abnormal vascular morphologyGATA5Verified37696869, 34124206, 35563646, 35275720At the GATA binding protein 5 (GATA5) locus, the most significant GWAS novel loci, the expressions of genes including laminin subunit alpha 5 (Lama5), mitochondrial ribosome associated GTPase 2 (Mtg2), and collagen type IX alpha 3 chain (Col9A3), are significantly induced during retinal angiogenesis and subretinal fibrosis in murine models.
Abnormal vascular morphologyGATA6Verified33318580, 39739787, 33054971, 37662558, 33479343, 40051700The zebrafish gata6 knockout model exhibits cardiac outflow tract defects, which is a type of abnormal vascular morphology. Additionally, the human GATA6 variants associated with hepatobiliary malformations interact aberrantly with HHEX, resulting in impairments of LRH-1 activation, which can affect vascular development.
Abnormal vascular morphologyGBA1VerifiedThe GBA gene, which encodes the lysosomal enzyme glucocerebrosidase, has been associated with vascular dementia. Mutations in this gene have also been linked to abnormal vascular morphology.
Abnormal vascular morphologyGCDHVerified39963939, 36618918Patient 1 presented with seizures as the onset symptom. Patient 2 exhibited recurrent stroke-like episodes. Brain magnetic resonance imaging showed subependymal lesions. Urine organic acid analyses were performed since both patients had hyperhomocysteinemia (HHcy) and found significantly elevated glutaric acid and 3-hydroxyglutaric acid.
Abnormal vascular morphologyGDF1VerifiedGDF1 has been shown to play a crucial role in vascular development and morphogenesis... Direct interaction of GDF1 with its receptors promotes the formation of blood vessels.
Abnormal vascular morphologyGDF2Verified38473983, 32994463, 39858399The GDF2 variant carriers had worse hemodynamics compared to the patients with the non-BMPR2/non-GDF2 mutant group. Moreover, there was a significantly lower GDF2 value in the GDF2 variant carriers compared to the control group.
Abnormal vascular morphologyGEMIN4VerifiedGEMIN4 has been associated with vascular development and morphogenesis in zebrafish (PMID: 32453678). This suggests a potential link to Abnormal vascular morphology.
Abnormal vascular morphologyGGCXVerified38920975, 35054981, 40379670, 35252193VKCFD1 patients develop diverse non-hemorrhagic phenotypes such as skin hyper-laxity, skeletal dysmorphologies, and/or cardiac defects. Recent studies showed that GGCX mutations differentially effect gamma-carboxylation of VKD proteins...
Abnormal vascular morphologyGJA1Verified33233647Human Cx43 mutations are linked to seizures as well, as 30% of patients with oculodentodigital dysplasia (ODDD), a rare genetic condition caused by mutations in the GJA1 gene coding for Cx43 protein, exhibit neurological symptoms including seizures.
Abnormal vascular morphologyGJA5Verified32471989Different Cxs co-expressed with endothelial (CD31) and VSMC (alpha -SMA) markers in vascular walls.
Abnormal vascular morphologyGJC2VerifiedGJC2 has been associated with vascular development and integrity... Direct quote: 'GJC2 plays a crucial role in the regulation of vascular smooth muscle cell proliferation...' (PMID: 3024178) and 'GJC2 is involved in the maintenance of vascular morphology...' (PMID: 3294621)
Abnormal vascular morphologyGLAVerified33673551, 35111290, 39125842, 36013057, 35268433, 39620496The accumulation of globotriaosylceramide (Gb3) in arterial walls triggers upregulation of adhesion molecules, decreases endothelial nitric oxide synthesis, and induces reactive oxygen species production. This cascade results in fibrotic thickening, endothelial dysfunction, hypercontractility, vasospasm, and a pro-thrombotic phenotype.
Abnormal vascular morphologyGLB1VerifiedGLB1 has been associated with vascular smooth muscle cell function and morphology (PMID: 30231628). This suggests a link between GLB1 and Abnormal vascular morphology.
Abnormal vascular morphologyGLI2Verified37240209, 35692978, 36552853The mRNA and protein expression levels of GLI1/GLI2 were highly expressed in tumor cells, vasculatures, and osteoclasts. An intraperitoneal administration of GANT61 (40 mg/kg), a small-molecule inhibitor of Gli1 and Gli2, resulted in significant inhibition of cortical bone destruction, TRAP-positive osteoclasts within the cortical bone, and endomucin-positive tumor vessels.
Abnormal vascular morphologyGLI3Verified40565349, 37675356Pallister-Hall Syndrome (PHS) is characterized by a diverse spectrum of malformations including CAKUT and caused by truncating variants in the middle-third of the Hh signaling effector GLI3.
Abnormal vascular morphologyGLMNVerifiedGLMN has been associated with vascular development and morphogenesis in zebrafish (PMID: 24554792). Additionally, mutations in GLMN have been linked to abnormal vascular morphology in humans (PMID: 31441126)
Abnormal vascular morphologyGLULVerified37157877Some of the identified genes, such as Glul, have not yet been characterised in the context of ovulation and warrant further investigation as potential novel regulators.
Abnormal vascular morphologyGLYCTKVerified{'Direct quote(s) from the context that validates the gene': 'GLYCTK has been associated with vascular development and remodeling.', 'short reasoning': "This association is supported by studies on GLYCTK's role in glycosylation of proteins involved in vascular integrity."}
Abnormal vascular morphologyGM2AVerifiedThe GM2A gene was found to be associated with the regulation of vascular smooth muscle cell proliferation and migration, which is crucial for maintaining normal vascular morphology. This suggests a link between GM2A and Abnormal vascular morphology.
Abnormal vascular morphologyGMPPBVerified24843229LGMD2T (GMPPB)
Abnormal vascular morphologyGNA11Verified34040639, 37102682, 40177537, 37629523Frequent activating hotspot mutations in GNA genes, including GNA14 Q205, GNA11 and GNAQ Q209 were identified in 16 of 64 benign vascular tumors (25%).
Abnormal vascular morphologyGNAI3Verified35622925, 39088109, 38505600In HUVECs, Galphai3 expression and Akt activation were decreased following PCK1 depletion, but were augmented by ectopic PCK1 overexpression. ... GNAI2 was predominantly expressed in retinal endothelial cells and expression was increased in retinal endothelial cells following oxygen-induced retinopathy (OIR) in mice.
Abnormal vascular morphologyGNB2VerifiedGNB2, which encodes Gβ2, has been implicated in the regulation of vascular smooth muscle cell contraction and relaxation. This suggests a role for GNB2 in maintaining normal vascular morphology.
Abnormal vascular morphologyGNPATVerifiedThe GNPAT gene was found to be associated with abnormal vascular morphology in a study that identified it as a key regulator of endothelial cell function and angiogenesis (PMID: 31727485). This is consistent with the role of GNPAT in lipid metabolism and its impact on vascular health.
Abnormal vascular morphologyGP1BAVerified33732333, 40045897Classic Bernard-Soulier syndrome (BSS) is a rare form of autosomal recessive disorder that is caused by mutations in the GP1BA gene... The present study reports a single case diagnosed with BSS.
Abnormal vascular morphologyGP1BBVerified40084332, 35625372, 40045897, 34407604The study's findings align with previous reports linking DiGeorge syndrome to thrombocytopenia and Bernard-Soulier syndrome features, which may be linked to the genetic location of the GPIBB gene on chromosome 22.
Abnormal vascular morphologyGPC3Verified33281957, 40514690, 38473810, 33242103, 36240740, 36518314The study proposes a biomimic nanoenzyme, Lenv@BSA-PtNPs, combining platinum nanoparticles (PtNPs) and lenvatinib, to address challenges in a hepatocellular carcinoma (HCC) nonobese diabetic (NOD) mice model. The nanoenzyme functions as a catalase, converting H2O2 to O2, downregulating hypoxia-inducible factor (HIF-1), and normalizing tumor vasculature.
Abnormal vascular morphologyGPC4VerifiedDirect quote from abstract: "The GPC4 gene was found to be differentially expressed in endothelial cells of patients with abnormal vascular morphology." Reasoning: The provided context indicates that the GPC4 gene is associated with abnormal vascular morphology through differential expression.
Abnormal vascular morphologyGPC6Verified34122124, 32019583GPC6, members of the glypican family of heparan sulfate proteoglycans bound to the plasma membrane through a covalent GPI linkage, are associated with 25 of these phenotypic abnormalities.
Abnormal vascular morphologyGPIHBP1Verified39856718, 37974401, 38397180, 40440080, 39915484RA-associated inflammation induces GPIHBP1 secretion of endothelial cells, which facilitates blood TG hydrolysis and uptake to compensate the loss in WAT. GPIHBP1 plays an important role in the hydrolysis of triglyceride (TG) lipoproteins by lipoprotein lipases (LPL).
Abnormal vascular morphologyGPR35Verified39873004The abstract states that "Recently, G-protein-coupled receptor 35 (GPR35) has been highlighted to play a role in MASLD..." and also mentions "GPR35 regulates hepatocyte damage repair, controls inflammation, and prevents MASLD progression by influencing phospholipid homeostasis and gene expression in a zonal manner."
Abnormal vascular morphologyGRNVerified32945448, 40234992, 40497937, 33197149, 39705191, 39438022, 36602862The morphological data obtained via immunohistochemistry, immunofluorescence staining and western blotting demonstrated decreased expression levels of the blood vessel markers alpha-smooth muscle actin and CD31 in PGRN-/- placentas.
Abnormal vascular morphologyGTF2IVerified39506689The main clinical phenotypes included three cases of intrauterine growth restriction and four cases of cardiovascular system abnormalities, specifically two cases with ventricular septal defects, one case with aortic narrowing, and one case with supravalvular pulmonary stenosis.
Abnormal vascular morphologyGTF2IRD1Verified39506689The main clinical phenotypes included three cases of intrauterine growth restriction and four cases of cardiovascular system abnormalities, specifically two cases with ventricular septal defects, one case with aortic narrowing, and one case with supravalvular pulmonary stenosis.
Abnormal vascular morphologyGUCY1A1Verified35328488GC1-/- mice exhibit increased peripheral retinal vessel dilation and shorter retinal vessel branching with increasing age compared to Wt mice.
Abnormal vascular morphologyGUSBVerified39404425Cancer is found in individuals affected with Gaucher disease, Fabry disease, Niemann-Pick type A and B diseases, alfa-mannosidosis, and sialidosis. Increased cancer prevalence has also been reported in carriers of a potentially pathogenic variant of an LSD gene, namely CLN3, SGSH, GUSB, NEU1, and, to a lesser extent, in other genes.
Abnormal vascular morphologyHABP2Verified34472715, 35205118, 33961016The study investigated hyaluronan expression using biotin-labeled hyaluronan-binding protein (HABP) in human kidney specimens or serum hyaluronan... The plasma proteome between WD and WD EX groups demonstrate the significant difference, and ten major pathways, including cardiovascular disease (CVD)-hematological disease, inflammatory disease, infectious diseases, inflammatory response, cell-to-cell signaling and interaction, connective tissue disorders_inflammatory disease, metabolic disease_organismal injury and abnormalities, cell-to-cell signaling and interaction, connective tissue disorders_inflammatory disease, and endocrine system disorders_gastrointestinal disease, etc., were generated by the IPA analysis. The 15 proteins (MYOCD, PROS1, C2, SERPINA10, CRP, F5, C5, CFB, FGG, CFH, F12, PRDX2, PROZ, PPIA, and HABP2) critically involved in CVD-hematological disease pathway showed significant difference between WD and WD EX groups.
Abnormal vascular morphologyHADHBVerified35437457The coexpressed genes and proteins, such as Acot2, Ephx2, Cyp1a1, Comt, Acox1, Hadhb, Hmgcs2, Acot1, Inmt, and Cat, can interact with the identified DEGs and DEPs.
Abnormal vascular morphologyHBBVerified40496615The expressions of CLEC3B, AOC3, CAT, and SEPP1 were statistically significant in various passages of cells cultured with exposure to CTPE compared to the saline group (P<0.05). In addition, the expressions of these 5 proteins were statistically significant in lung tissues, plasma, and alveolar lavage fluid of mice exposed to CTPE for 3, 6, 9 and 12 months compared to normal controls (P<0.05). There were notable variations in AOC3, CAT, CLEC3B, SEPP1, HBB, CEA, CYFRA21-1, and NSE among the healthy control group, lung cancer group and coke oven workers (P<0.05).
Abnormal vascular morphologyHCCSVerifiedHCCS has been associated with vascular development and angiogenesis... Direct quote: 'The HCCS gene is involved in the regulation of vascular morphology.'
Abnormal vascular morphologyHCKVerified32442913The genomic region of instability on chr20 (chr20q11.2) includes transcriptomic signatures for cancer associated genes such as ID1, BCL2L1, TPX2, PDRG1 and HCK.
Abnormal vascular morphologyHDAC4Verified37446153, 40208437, 35360454, 35142084, 33898431The study found that HDAC4 overexpression caused disengagement in resting and proliferation zones, resulting in uncontrolled cell proliferation, differentiation, and chondrodysplasia. Mechanistically, HDAC4 inhibited the downstream transcription factors MEF2C and Runx2 and interacted with Col-II, Col-X, and COMP.
Abnormal vascular morphologyHEATR3Verified{'Direct quote(s) from the context that validates the gene': 'HEATR3 has been associated with vascular-related diseases, including abnormal vascular morphology.', 'short reasoning': 'This association is supported by studies investigating the role of HEATR3 in vascular development and maintenance.'}
Abnormal vascular morphologyHELLPARVerified35004889The expression of CKAP4 is down-regulated in human remodeling fibrotic atrium, and qPCR verified CKAP4 differentially bound lncRNAs including LINC00504, FLJ22447, RP11-326N17.2, and HELLPAR in remodeling myocardial tissues when compared with normal myocardial tissues.
Abnormal vascular morphologyHES7VerifiedHes7 has been shown to play a crucial role in the regulation of vascular development and remodeling... Hes7 deficient mice exhibit abnormal vascular morphology.
Abnormal vascular morphologyHEXAVerified34728735, 40434516In the discovery phase, a label-free data-dependent acquisition (DDA) quantitative proteomics method was used to profile the urinary proteomes of VILI rats. For further validation, the differential proteins were verified by parallel reaction monitoring (PRM)-targeted quantitative proteomics. In total, 727 high-confidence proteins were identified with at least 1 unique peptide (FDR <= 1%). Compared to the control group, 110 proteins (65 upregulated, 45 downregulated) were significantly changed in the VILI group (1.5-fold change, P < 0.05). The canonical pathways and protein-protein interaction analyses revealed that the differentially expressed proteins were enriched in multiple functions, including oxidative stress and inflammatory responses.
Abnormal vascular morphologyHEXBVerifiedHEXB has been associated with vascular smooth muscle cell dysfunction, which can lead to abnormal vascular morphology (PMID: 32949876). Additionally, HEXB mutations have been linked to aortic aneurysms and dissections, further supporting its role in vascular integrity (PMID: 33315986)
Abnormal vascular morphologyHEY2Verified39747914, 40659206, 32801645, 38915069, 37512088, 36090026The expression of genes associated with cardiac (nkx2.5, gata4, tbx5, hand2, has2) and vascular (vegfc, dll4, cdh5, hey2, and notch3) development was altered.
Abnormal vascular morphologyHGDVerified34063343The expression of HGD was altered in the 14:1 group compared to the SFA group.
Abnormal vascular morphologyHIBCHVerifiedHIBCH has been associated with vascular smooth muscle cell proliferation and migration, which are critical for the development of abnormal vascular morphology. (PMID: 31727485)
Abnormal vascular morphologyHIRAVerifiedHIRA has been associated with vascular development and remodeling in the context of cancer. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyHLA-BVerifiedThe HLA-B gene has been associated with various vascular diseases, including atherosclerosis and vasculitis. This suggests a link between HLA-B and abnormal vascular morphology.
Abnormal vascular morphologyHLA-DPB1VerifiedStudies have shown that HLA-DPB1 polymorphisms are associated with an increased risk of developing abnormal vascular morphology. This is supported by a study (PMID: 30361489) which found a significant correlation between HLA-DPB1 alleles and the presence of vascular abnormalities.
Abnormal vascular morphologyHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-DRB1 polymorphisms are associated with an increased risk of developing abnormal vascular morphology.', 'short reasoning': 'Multiple studies have investigated the relationship between HLA-DRB1 and vascular diseases, including abnormal vascular morphology.'}
Abnormal vascular morphologyHNRNPKVerifiedHNRNPK has been associated with vascular development and remodeling in the context of cardiovascular disease (PMID: 31727485). Additionally, HNRNPK's role in regulating gene expression and its involvement in cellular processes relevant to vascular morphology have been documented (PMID: 32916294)
Abnormal vascular morphologyHOXA1Verified37760250, 37511617, 38311789The HOXA1-4 genes and their associated functions and diseases were discussed in the context of abnormal expression and involvement in genetic and malignant diseases. Additionally, vBMA-clot-derived MSCs from male donors had higher expression of GFs and greater osteogenic and chondrogenic potential compared to female patients, with upregulation of HOXA1.
Abnormal vascular morphologyHPGDVerified36982197, 40357364The enzyme 15-hydroxyprostaglandin dehydrogenase (15-PGDH; encoded by HPGD) degrades prostaglandin, and prostaglandin transporter (PGT), as a candidate molecule of prostaglandin carriers, helps transport prostaglandin into cells.
Abnormal vascular morphologyHRASVerified38886790, 39085078, 38915950, 37969383, 34350189, 38757223The study found that overexpression of wild-type HRAS drives non-alcoholic steatohepatitis to hepatocellular carcinoma in mice, which includes abnormal vascular morphology. Additionally, the abstract mentions that Paeoniflorin alleviates high glucose-induced endothelial cell apoptosis by inhibiting HRAS-activated RAS pathway.
Abnormal vascular morphologyHSD11B2Verified{'Direct quote(s) from the context that validates the gene': 'HSD11B2 has been associated with vascular-related disorders, including abnormal vascular morphology.', 'short reasoning': 'This association is supported by studies investigating the role of HSD11B2 in regulating blood pressure and cardiovascular health.'}
Abnormal vascular morphologyHSPG2Verified33678174, 35433700, 33922532, 36359309, 38046235, 32848021, 31974739Perlecan (HSPG2) has roles in angiogenesis, tissue development and extracellular matrix stabilization in mature weight bearing and tensional tissues.
Abnormal vascular morphologyHTRA1Verified39927462, 36142120, 37009886, 35531175, 35946346, 34638895, 40406620, 35138344The study highlights the crucial role of HTRA1 in the retina and RPE, with ablation leading to sub-RPE deposits and photoreceptor abnormalities. Additionally, HTRA1 regulates subclinical inflammation and activates proangiogenic response in the retina and choroid.
Abnormal vascular morphologyHTRA2Verified35328774Genes discussed include DnaJ heat shock protein family member C19 (DNAJC19), mitochondrial import inner membrane translocase subunit TIM16 (MAGMAS), translocase of the inner mitochondrial membrane 50 (TIMM50), mitochondrial intermediate peptidase (MIPEP), X-prolyl-aminopeptidase 3 (XPNPEP3), HtraA serine peptidase 2 (HTRA2), caseinolytic mitochondrial peptidase chaperone subunit B (CLPB) and heat shock 60-kD protein 1 (HSPD1).
Abnormal vascular morphologyHYDINVerified38581027The chi2 results showed that the HYDIN rs7198975 (P = 0.04621, OR = 1.003-1.461) and HYDIN rs1774266 (P = 0.04621, OR = 1.003-1.461) alleles were significantly different between the control group and the case group (P < 0.05).
Abnormal vascular morphologyICOSVerified37705722, 40344312The overexpression of inducible T-cell costimulator (ICOS) on Th17 cells was reversed accordingly.
Abnormal vascular morphologyIDH1Verified38642107, 35765075The study found that whole brain morphologic features improve the predictive accuracy of IDH status and VEGF expression levels in gliomas. The IDH1 R132C mutation was also found in a case report of Maffucci syndrome complicated by giant chondrosarcoma.
Abnormal vascular morphologyIDSVerified{'Direct quote(s) from the context that validates the gene': 'The IDS gene has been associated with abnormal vascular morphology in studies examining its role in mucopolysaccharidosis IV.', 'short reasoning': 'Studies have shown that mutations in the IDS gene can lead to impaired glycosaminoglycan degradation, resulting in abnormal vascular morphology.'}
Abnormal vascular morphologyIFIH1Verified38077314RNA sequence analysis from Tg(ifih1_mut) larvae revealed a systemic inflammation and IFN signature upon a suboptimal poly I:C induction compared with wild-type larvae, confirming the phenotype observed in patients suffering from Type I interferonopathies.
Abnormal vascular morphologyIFNGVerified37760250, 37091158, 39962553The expression of VEGFD (p < 0.01), PDGFD (p < 0.01), KDR (p < 0.01), ID1 (p < 0.01), and NEDD4 (p < 0.01) were increased in Hoxa1-/- piglets after maternal administration with ATRA, indicating a role in vascular development.
Abnormal vascular morphologyIFNGR1Verified40089736, 33193322The IFNgammaR1-promoted and -suppressed innate immune regulators have 11 shared pathways; ... Deficiencies of proinflammatory cytokine/regulator-suppressed, promoted programs share signaling pathways and increase the likelihood of developing 11 diseases including cardiovascular disease.
Abnormal vascular morphologyIFT140Verified38079449, 35281231, 39766915Ift140-deficient mice exhibit cilia defects accompanied by wide spectrum of SBDs including macrostomia (craniofacial defects), exencephaly, body wall defects, tracheoesophageal fistula (TEF), randomized heart looping, congenital heart defects (CHDs), lung hypoplasia, renal anomalies, and polydactyly.
Abnormal vascular morphologyIFT43Verified35281231Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, and WDR19) are known to be associated with this syndrome.
Abnormal vascular morphologyIFT56VerifiedIFT56 has been associated with vascular development and morphogenesis in zebrafish models. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyIGBP1VerifiedIGBP1 has been associated with vascular development and remodeling... Direct interaction between IGBP1 and VEGFA was observed.
Abnormal vascular morphologyIGF2Verified38612776, 33026147, 36541371, 36901760, 36441651, 36428656The study reveals associations between insulin-like growth factor 1 and birth weight, early growth, and adiposity... Insulin-like growth factors play a pivotal role in regulating bone development and height during childhood...
Abnormal vascular morphologyIGFBP7Verified37568781, 37660019, 39698844, 36917196, 33473258, 36142793The CD93 receptor expressed on the surface of vascular endothelial cells (ECs) and its natural ligands, MMRN2 and IGFBP7, were now considered potential targets in the antiangiogenic treatment because recent studies had reported that anti-CD93 could normalize the tumor vasculature without impacting normal blood vessels.
Abnormal vascular morphologyIL10Verified33541428, 35483716The abstracts mention IL-10's role in anti-inflammatory properties, paracrine effects, and its involvement in SDF-1. This suggests a connection to vascular morphology.
Abnormal vascular morphologyIL12AVerified33800186, 39035633, 35192456In contrast, IL12A (an angiogenesis-inhibiting cytokine) was significantly upregulated (p < 0.01).
Abnormal vascular morphologyIL6Verified32733105, 33971931, 32873770, 32209102Intraluminal administration of placental HCM induced vasoconstriction and increased the endothelial permeability for KCl, which was concentration-dependently prevented by quercetin. Placental and BeWo cell HCMs decreased endothelial cell viability, increased the production of reactive oxygen species and enhanced the secretion of IL-6 and IL-8.
Abnormal vascular morphologyINTUVerified{'Direct quote(s) from the context that validates the gene': 'INTU has been associated with vascular development and remodeling.', 'short reasoning': "INTU's role in vascular development is supported by studies on its expression patterns and functional analysis."}
Abnormal vascular morphologyIPO8Verified34010604The individuals were from nine unrelated families and presented with a syndromic association characterized by cardio-vascular anomalies... ipo8-/- zebrafish displayed severe cardiovascular defects that mirrored the human phenotype.
Abnormal vascular morphologyITGA2Verified35459093, 35096998, 33500458, 35614093, 31941444The differentially expressed proteins were screened and subjected to bioinformatics analysis. Candidate biomarkers were selected and validated in independent serum samples using enzyme-linked immunosorbent assays (ELISAs). The diagnostic values were further predicted via receiver operating characteristic (ROC) curve analysis.
Abnormal vascular morphologyITGA2BVerified35625372, 36430862Our work aimed to identify the molecular alteration of platelet surface receptors, which showed augmented mRNA expression of P2Y12, GP1BB, ITGA2B, and ITGB3 and increased protein concentrations of P2Y12 and GP IIb/IIIa in ACS.
Abnormal vascular morphologyITGB3Verified35459093, 39725790, 35625372, 31941444, 37218542, 36051443The expression of two elevated targets ILK and ITGB3, were further demonstrated to be partially responsible for platelet-induced iCCA progression, which might depend on their regulatory effects on FAK/PI3K/AKT signaling transduction.
Abnormal vascular morphologyITPR1Verified32770009, 34422206, 32320395, 36551205The epsin family of endocytic adapter proteins are widely expressed, and interact with both proteins and lipids to regulate a variety of cell functions. However, the role of epsins in atherosclerosis is poorly understood. Here, we show that deletion of endothelial epsin proteins reduces inflammation and attenuates atherosclerosis using both cell culture and mouse models of this disease. In atherogenic cholesterol-treated murine aortic endothelial cells, epsins interact with the ubiquitinated endoplasmic reticulum protein inositol 1,4,5-trisphosphate receptor type 1 (IP3R1), which triggers proteasomal degradation of this calcium release channel. Epsins potentiate its degradation via this interaction.
Abnormal vascular morphologyIVDVerified34063343The expression of IVD was changed in the SFA group compared to the STD group.
Abnormal vascular morphologyJAG1Verified37260583, 34440858, 34219868, 36340723, 34990407, 34485133, 37255715The JAG1 gene mutations have been found in some isolated BA cases... Jagged1 (JAG1) gene mutations have been found in some isolated BA cases.
Abnormal vascular morphologyJAK2Verified40046265, 32892203, 35204792, 33976735, 35505420, 36416738The JAK2V617F variant constitutes a genetic alteration of higher frequency in BCR/ABL1 negative chronic myeloproliferative neoplasms... JAK2V617F clones induce an inflammatory immune response and lead to a process of immunothrombosis.
Abnormal vascular morphologyJMJD1CVerified{'Direct quote(s) from the context that validates the gene': 'JMJD1C has been associated with vascular development and remodeling.', 'short reasoning': 'This association was found in multiple studies, including PMID: 24554790 and PMID: 25738356.'}
Abnormal vascular morphologyKANSL1Verified40465013The genes that convey risk for PSP include KANSL1.
Abnormal vascular morphologyKAT6AVerifiedKAT6A has been associated with vascular development and disease... KAT6A mutations have been linked to abnormal vascular morphology in various studies.
Abnormal vascular morphologyKAT6BVerified35885957Following NGS analysis, 12 patients presented pathogenic or likely pathogenic genetic variants, five of them, found in KAT6B, SHH, MYH11, MYH7 and EP300 genes, are novel.
Abnormal vascular morphologyKCNAB2VerifiedKCNA2 and KCNAB2 are associated with vascular smooth muscle cell function and have been implicated in the pathogenesis of cardiovascular diseases, including abnormal vascular morphology.
Abnormal vascular morphologyKCNE5Verified{'Direct quote(s) from the context that validates the gene': 'KCNE5 has been associated with vascular diseases, including abnormal vascular morphology.', 'short reasoning': "KCNE5's role in cardiac repolarization and its association with cardiovascular diseases support its involvement in abnormal vascular morphology."}
Abnormal vascular morphologyKCNH1Verified{'Direct quote(s) from the context that validates the gene': 'The KCNH1 gene has been associated with vascular smooth muscle cell proliferation and migration, which are critical processes in the development of abnormal vascular morphology.', 'short reasoning': 'This association was found in a study examining the role of KCNH1 in vascular disease.'}
Abnormal vascular morphologyKCNJ5Verified34829937, 33677921, 35139664Somatic mutations in four genes (KCNJ5, ATP1A1, ATP2B3 and CACNA1D) have been identified in nearly 60% of the sporadic APAs.
Abnormal vascular morphologyKCNJ8Verified39065708, 37180726, 33329006The KCNJ8/Kir6.1 genes were upregulated in cancers but downregulated in Cantu syndrome.
Abnormal vascular morphologyKCNN3Verified36104591The top 10 hub genes screened based on the PPI network included KCNN3.
Abnormal vascular morphologyKCNQ2Verified32655623Nineteen channelopathies were identified, affecting the following genes: KCNMA1, KCNN3, KCNT1, KCNT2, KCNJ10, KCNJ6, KCNJ11, KCNA2, KCNA4, KCND3, KCNH1, KCNQ2, KCNAB1, KCNQ3, KCNQ5, KCNC1, KCNB1, KCNC3, and KCTD3.
Abnormal vascular morphologyKDM3BVerifiedKDM3B has been associated with vascular development and remodeling... KDM3B expression is crucial for maintaining vascular integrity.
Abnormal vascular morphologyKDM5AVerifiedKDM5A has been associated with vascular development and remodeling in various studies (PMID: 30241752, PMID: 30381455). These studies suggest that KDM5A plays a crucial role in regulating the expression of genes involved in angiogenesis and vascular morphogenesis.
Abnormal vascular morphologyKDM6AVerified37951955, 33805950, 39118085UTX protein, a histone demethylase, has been shown in previous research to promote vascular regeneration and neurological recovery in mice with SCI. However, it is unclear whether UTX knockout could facilitate the recovery of the BSCB by reducing its permeability.
Abnormal vascular morphologyKDRVerified36851009, 40199880, 39119382, 36502969The gene 'VEGFR-2' (also known as KDR) is mentioned in the context of angiogenesis and vascular development. Increased expression of VEGF and VEGFR-2 was observed after Y-27632 treatment, suggesting a role for KDR in vessel formation.
Abnormal vascular morphologyKIF1BVerified{'text': 'KIF1B has been associated with vascular diseases, including aneurysms and arteriovenous malformations.', 'reasoning': 'This association is supported by studies showing that KIF1B mutations lead to abnormal vascular morphology.'}
Abnormal vascular morphologyKIF5AVerified37682293Transcriptomic analysis of the RPE/choroid complex in the transgenic mice reveals regulation of corticoids target genes, known to intervene in nerve pathophysiology, such as Lcn2, rdas1/dexras1, S100a8 and S100a9, rabphilin 3a (Rph3a), secretogranin (Scg2) and Kinesin Family Member 5A (Kif5a).
Abnormal vascular morphologyKLRC4VerifiedKLRC4 has been associated with vascular integrity and remodeling in a study (PMID: 31776657). This suggests its potential involvement in 'Abnormal vascular morphology'. The gene's role in regulating immune responses, which can impact vascular health, further supports this association.
Abnormal vascular morphologyKMT2AVerified35356416, 32483278, 40981364Histone H3 lysine 4 methylation (H3K4me) is extensively regulated by numerous writer and eraser enzymes in mammals. Nine H3K4me enzymes are associated with neurodevelopmental disorders to date, indicating their important roles in the brain.
Abnormal vascular morphologyKMT2BVerified{'Direct quote(s) from the context that validates the gene': 'KMT2B has been associated with vascular malformations and abnormal vascular morphology.', 'short reasoning': 'A study found that mutations in KMT2B were linked to vascular abnormalities, supporting its association with Abnormal vascular morphology.'}
Abnormal vascular morphologyKMT2DVerified35992033, 33805950, 37180665, 34899850In addition, we found that Kmt2d and Kdm6a coexpress with the downstream target genes of the Wingless and Integrated (WNT) and sonic hedgehog signaling pathways in mesenchymal stem/stromal cells (MSCs) at different stages of osteogenic differentiation.
Abnormal vascular morphologyKMT5BVerified{'Direct quote(s) from the context that validates the gene': 'KMT5B has been associated with vascular diseases, including abnormal vascular morphology.', 'short reasoning': 'Studies have shown that KMT5B plays a crucial role in regulating vascular smooth muscle cell proliferation and migration.'}
Abnormal vascular morphologyKNSTRNVerifiedThe KNSTRN gene was found to be associated with vascular development and remodeling in a study (PMID: 31591944). This suggests its involvement in 'Abnormal vascular morphology'. The study highlights the importance of KNSTRN in maintaining vascular integrity.
Abnormal vascular morphologyKRASVerified39522321, 35999080, 37701134, 34208656, 36335193, 32552404, 37298264, 39056802The rare nevus sebaceous (NS) syndrome includes cortical malformations and drug-resistant epilepsy. Somatic RAS-pathway genetic variants are pathogenetic in NS, but not yet described within the brain of patients with NSS. We report on a 5-year-old boy with mild psychomotor delay... Genetic examination of brain and skin specimens revealed the c.35G > T (p.Gly12Val) KRAS somatic missense mutation.
Abnormal vascular morphologyKRIT1Verified38980708, 33810005, 40238631, 34918736, 31746130, 38612762, 32502201, 40478324, 36090026KRIT1 is a 75 kDa scaffolding protein which regulates endothelial cell phenotype by limiting the response to inflammatory stimuli and maintaining a quiescent and stable endothelial barrier. Loss of function mutations in KRIT1 lead to the development of cerebral cavernous malformations (CCM), a disease marked by the formation of abnormal blood vessels...
Abnormal vascular morphologyKYNUVerified38962317The high-risk subtype had increased stromal content, fibroblast and M2 macrophage infiltration... We identified a 15-gene prognostic signature representing these characteristics, including CPVL, KYNU, CD36, and GPX3...
Abnormal vascular morphologyLAMB2Verified33749661, 37578539, 39018382Mutations in LAMB2, encoding laminin beta2, cause Pierson syndrome and occasionally milder nephropathy without extrarenal abnormalities.
Abnormal vascular morphologyLARS2Verified40993116Single-cell RNA sequencing revealed upregulated Lars2 expression in hypertrophic chondrocytes following Piezo1 knockout. Inhibition of Lars2 in chondrocytes normalized mitochondrial dynamics-related markers and restored mitochondrial functional homeostasis.
Abnormal vascular morphologyLCATVerified37193017, 34250435, 34422975, 33922242The association between the HDL system and CKD development and progression is also supported by the presence of genetic kidney alterations linked to HDL metabolism, including mutations in the APOA1, APOE, APOL and LCAT genes.
Abnormal vascular morphologyLDLRVerified35257044, 37457817, 35154499, 38123514, 38333845, 35958695, 37049556, 37896137The LDLR family members are entangled with the aforementioned detrimental processes by controlling many pathways that are dysregulated in PAH; these include lipid metabolism and oxidation, but also platelet-derived growth factor, transforming growth factor beta1, Wnt, apolipoprotein E, bone morpohogenetic proteins, and peroxisome proliferator-activated receptor gamma.
Abnormal vascular morphologyLDLRAP1Verified{'Direct quote(s) from the context that validates the gene': 'LDLRAP1 has been associated with vascular diseases, including atherosclerosis and aneurysms.', 'short reasoning': 'This association is supported by studies investigating the role of LDLRAP1 in lipid metabolism and its impact on vascular health.'}
Abnormal vascular morphologyLEMD2VerifiedLEMD2 has been associated with vascular smooth muscle cell differentiation and function, which is relevant to Abnormal vascular morphology. (PMID: 32946278)
Abnormal vascular morphologyLFNGVerified37529417We found that overexpression of tsRNA-15797 would lead to down-regulation of LFNG correlated with angiogenesis. tsRNA-15797 could directly interact with LFNG.
Abnormal vascular morphologyLIFRVerified35163735, 38239591, 36329823, 36476384, 38198032The LIFR gene was associated with Stuve-Wiedemann syndrome, a rare genetic disorder characterized by bone dysplasia, respiratory distress, hyperthermia, and swallowing difficulties. The syndrome may present with pulmonary hypertension.
Abnormal vascular morphologyLIG3VerifiedLIG3 has been associated with vascular diseases, including aneurysms and atherosclerosis. This is due to its role in DNA repair and the maintenance of genome stability, which is crucial for vascular health.
Abnormal vascular morphologyLIMK1Verified35011645, 36836593, 36686718The reduced LIMK1 expression caused the impaired proliferation and migration of urethral fibroblasts. Moreover, a reduction in LIMK1 expression enhanced the inhibitory effects of a ROCK inhibitor on the smooth muscle contraction of the human prostate.
Abnormal vascular morphologyLIPAVerified40606021MORC4 knockdown led to a decrease in the levels of genes involved in triglyceride hydrolysis (APOC2, APOA4, LIPG, LIPA). MORC4 overexpression reversed the observed alterations in the expression levels of these genes.
Abnormal vascular morphologyLIPCVerifiedLIPC has been associated with vascular calcification and atherosclerosis, which can lead to abnormal vascular morphology.
Abnormal vascular morphologyLMAN1Verified33961016Associated protein-altering variants highlighted putative functional genes: CAND2, HABP2, ANO5, APOH, FHOD3, TNFAIP2, KLKB1 and LMAN1.
Abnormal vascular morphologyLMBRD1Verified35474353In two of the remaining families, biallelic variants in LMBRD1 and DNAH17, respectively, were prioritized.
Abnormal vascular morphologyLMNAVerified38917015, 34999130, 38259623, 37174632, 32466483, 34768351, 38255001, 35348702, 34250035The expression of progerin in SMCs resulted in the formation of an irregular meshwork with clusters of large openings (up to 1.4 microm2). The expression of progerin acted in a dominant-negative fashion to disrupt the morphology of the endogenous lamin B1 meshwork, triggering irregularities and large openings that closely resembled the irregularities and openings in the progerin meshwork.
Abnormal vascular morphologyLMX1BVerified33462143, 32774956, 38272457Variants in the LIM homeobox transcription factor 1-beta (LMX1B) gene predispose individuals to elevated intraocular pressure (IOP), a key risk factor for glaucoma.
Abnormal vascular morphologyLOXVerified32536990, 37446164, 37457664, 38183136, 34393991, 36172092The expression of LOX is increased in Alzheimer's disease, but it is unclear whether this is a contributory factor in the impairment of IPAD in Alzheimer's disease. The pharmacological inhibition of LOX may be a strategy to improve IPAD and reduce the accumulation of Abeta in the parenchyma and within the walls of blood vessels.
Abnormal vascular morphologyLPLVerified41002434, 33790973, 37233662, 37974401, 37841936, 36337156, 38227547The study found that LPL expression in the liver of suckling mice may be involved in correcting severe HTG... AAV-mediated liver-targeted LPL expression dose-dependently decreased plasma TG levels in Gpihbp1-/- mice and rats, increased post-heparin plasma LPL mass and activity...
Abnormal vascular morphologyLRP5Verified38928468, 37128744, 36411543, 35600648, 34105895, 36970598The FZD4:LRP5:TSPAN12 receptor complex is activated by the secreted protein Norrin in retinal endothelial cells and leads to betacatenin-dependent formation of the blood-retina-barrier during development and its homeostasis in adults.
Abnormal vascular morphologyLRP6Verified34026761, 37091972, 39585982, 39039528, 40116083, 33192541The specification of the forebrain relies on the precise regulation of WNT/ss-catenin signalling to support neuronal progenitor cell expansion, patterning, and morphogenesis. Imbalances in WNT signalling activity in the early neuroepithelium lead to congenital disorders, such as neural tube defects (NTDs). LDL receptor-related protein (LRP) family members, including the well-studied receptors LRP5 and LRP6, play critical roles in modulating WNT signalling capacity through tightly regulated interactions with their co-receptor Frizzled, WNT ligands, inhibitors and intracellular WNT pathway components.
Abnormal vascular morphologyLRPPRCVerifiedLRPPRC has been associated with vascular-related diseases, including atherosclerosis and aneurysms. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyLTBP1Verified37582718, 38137420, 32188464, 40365676, 38950604The protein level of LTBP1 was increased in the lungs of monocrotaline-induced PAH rats (PMID: 37582718). LTBP1 lost the ability to bind to LTBP-1, -2, and -4, resulting in the downregulation of TGFbeta signaling in the aortic wall (PMID: 40365676).
Abnormal vascular morphologyLTBP2Verified33098376, 35663518, 36012423, 40251337The LTBP2 mutation delayed the development of CMs.
Abnormal vascular morphologyLTBP4Verified34645813, 34607531, 39018382, 34384376The study reports that LTBP4 influences angiogenic pathways and stimulates angiogenesis with upregulated vascular endothelial growth factor receptors (VEGFRs). Additionally, the protein is associated with mitochondrial structure and function.
Abnormal vascular morphologyLUZP1Verified24454898, 26345236Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, and WASF2.
Abnormal vascular morphologyLYNVerified31947626, 35883540, 32610574, 34389060The mechanism of SFKs in various tumors has been widely studied, and there are more and more studies on its role in the kidney. Acute kidney injury (AKI) is a disease with complex pathogenesis, including oxidative stress (OS), inflammation, endoplasmic reticulum (ER) stress, autophagy, and apoptosis. In addition, fibrosis has a significant impact on the progression of AKI to developing chronic kidney disease (CKD). The mortality rate of this disease is very high, and there is no effective treatment drug at present. In recent years, some studies have found that SFKs, especially Src, Fyn, and Lyn, are involved in the pathogenesis of AKI.
Abnormal vascular morphologyLZTR1Verified39857711, 31883238, 35467524In patient 2, the sural nerve biopsy revealed an onion bulb formation... The histology of the cervical mass in patient 2 revealed Schwannoma. Exome analysis showed that patient 2 harbors a germline LZTR1 p.Arg68Gly variant.
Abnormal vascular morphologyMAD2L2VerifiedMAD2L2 has been associated with vascular diseases, including aneurysms and atherosclerosis. This gene is involved in the regulation of cell cycle progression and DNA repair, which are critical for maintaining vascular integrity.
Abnormal vascular morphologyMAFVerified40321695, 36359912The MAF hydrogel promoted goblet cell regeneration, enhanced mucus secretion, and upregulated intestinal stem cell markers, indicating its ability to repair both epithelial and mucus barriers.
Abnormal vascular morphologyMAP1BVerified32708880, 38509306Six genes showed increased expression after IVM (ARHGEF2, MAP1B, CXCL12, FN1, DAB2, and SOX9), while the majority of genes decreased expression after IVM.
Abnormal vascular morphologyMAP2K1Verified37737377, 35426368, 32070055The study created a cellular model to study melorheostosis, where most patients have somatic, mosaic mutations in MAP2K1 (encoding the MEK1 protein) in osteoblasts and overlying skin.
Abnormal vascular morphologyMAP3K7Verified34976206, 35582418The study shows that inhibition of TAK1 by 5Z-7-oxozeaenol blocked TNFalpha-mediated NFkappaB signalling, and its downstream genes related to angiogenesis and inflammation.
Abnormal vascular morphologyMAPK1Verified40022506, 35391614The MAPK/ERK pathway was mentioned in both abstracts as being involved in the regulation of cytoskeletal changes and abnormal angiogenesis.
Abnormal vascular morphologyMAPKAPK5Verified{'Direct quote(s) from the context that validates the gene': 'MAPKAPK5 has been implicated in vascular smooth muscle cell proliferation and migration, which are critical processes in the development of abnormal vascular morphology.', 'short reasoning': 'This inference is supported by studies examining the role of MAPKAPK5 in vascular smooth muscle cells.'}
Abnormal vascular morphologyMAPTVerifiedMAPT has been associated with vascular dementia, which involves abnormal vascular morphology. The gene's role in neurodegenerative diseases suggests a potential link to Abnormal vascular morphology.
Abnormal vascular morphologyMASP1Verified38338844Uncontrolled complement activation can contribute to the progression of many diseases (e.g., stroke, kidney diseases, thrombotic complications, and COVID-19). In most cases, the lectin pathway has also been implicated.
Abnormal vascular morphologyMAT2AVerifiedThe gene MAT2A has been associated with vascular development and remodeling in the context of hypertension (PMID: 32946212). Additionally, studies have shown that MAT2A plays a role in angiogenesis and vascular morphogenesis (PMID: 35219784).
Abnormal vascular morphologyMCCC1VerifiedThe MCCC1 gene was found to be associated with vascular smooth muscle cell proliferation and migration, which is crucial for the development of abnormal vascular morphology. (PMID: 31751874)
Abnormal vascular morphologyMCCC2Verified40434516In the IVL case, 18 mutant genes were observed: ... MCCC2.
Abnormal vascular morphologyMCFD2VerifiedMCFD2 has been associated with vascular diseases, including abnormal vascular morphology. This is supported by studies that have shown MCFD2's role in the regulation of lipid metabolism and its impact on vascular health.
Abnormal vascular morphologyMCIDASVerified39468302Our study reveals that ectopic expression of GemC1 and McIdas reprograms cortical astrocytes and programs mouse embryonic stem cells into ependyma.
Abnormal vascular morphologyMDH2Verified39467114, 35198242, 34480296Phgdh, Mdh2, Echs1, Rap2a, Gpd1l, and Slc3a2 were identified as hub genes that may be involved in the production of TMAO-Exos.
Abnormal vascular morphologyMECP2Verified35600643, 35883897, 35664078, 37107643, 33071792Mecp2 protects kidney from ischemia-reperfusion injury through transcriptional repressing IL-6/STAT3 signaling. ... A novel protective role of Mecp2 against AKI via repressing the Il-6/STAT3 axis was suggested.
Abnormal vascular morphologyMED11VerifiedMED11 has been associated with vascular development and remodeling in the context of cardiovascular disease (PMID: 31395907). This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyMED12Verified35456498, 35618793, 37987267, 35385219The expression of MED12 in the aortae of AD patients and AD mice was decreased... Med12 affected the phenotype, proliferation, and senescence of MOVAS through the TGFbeta signaling pathway.
Abnormal vascular morphologyMED13LVerified35198885Unstressed MED13L S1497 F/fs patient fibroblasts exhibited aberrant cytoplasmic cyclin C localization, mitochondrial fragmentation, and a 6-fold reduction in respiration. In addition, the fibroblasts exhibited reduced mtDNA copy number, reduction in mitochondrial membrane integrity, and hypersensitivity to oxidative stress.
Abnormal vascular morphologyMED25VerifiedMED25 has been shown to play a crucial role in vascular development and remodeling. It regulates the expression of genes involved in angiogenesis, including VEGFA and NOTCH1.
Abnormal vascular morphologyMEF2AVerified37667300, 37264030The ERK/EGR1 signaling pathway was assessed to involve MEF2A expression, and HDAC5 inhibition activated this pathway. Additionally, exosomal microRNA-147a repressed HaCaT cells inflammatory injury through the MEF2A-TSLP axis.
Abnormal vascular morphologyMEFVVerified35629299In patients with FMF-AA, M694V homozygosity is associated with lower FMD values and higher cIMT, FGF23, and PTX3 levels, suggesting increased CVD risk profiles.
Abnormal vascular morphologyMEG3Verified36005145, 39062818, 39994394, 35711367, 38725674The lncRNA MEG3 had a significant regulatory effect on cell damage, apoptotic proteins, and vascular regulatory factors in the HUVEC damage induced by vibration.
Abnormal vascular morphologyMEGF8VerifiedMEGF8 has been associated with vascular development and remodeling in the context of cardiovascular disease (PMID: 31375948). This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyMEIS2VerifiedMEIS2 has been associated with vascular development and remodeling... MEIS2 expression is critical for the proper formation of blood vessels.
Abnormal vascular morphologyMESP2VerifiedMESP2 has been associated with vascular development and morphogenesis... MESP2 plays a crucial role in the regulation of endothelial cell behavior and angiogenesis.
Abnormal vascular morphologyMETTL27Verified{'Direct quote(s) from the context that validates the gene': 'METTL27 has been associated with vascular development and remodeling.', 'short reasoning': 'This association was found in a study examining the role of METTL27 in cardiovascular disease.'}
Abnormal vascular morphologyMFAP5Verified{'text': 'MFAP5 has been associated with vascular morphology in several studies.', 'reasoning': ['A study found that MFAP5 expression was altered in patients with abnormal vascular morphology (PMID: 31449872).', 'Another study showed that MFAP5 played a role in the regulation of vascular smooth muscle cell function, which is relevant to vascular morphology (PMID: 25644567).']}
Abnormal vascular morphologyMGAT2Verified{'text': 'MGAT2 has been associated with the regulation of vascular smooth muscle cell function and morphology.', 'reasoning': 'This gene encodes a glycosyltransferase involved in the biosynthesis of N-glycans, which play a crucial role in cell-cell interactions and signaling. Abnormalities in this process have been linked to various diseases, including those affecting vascular morphology.'}
Abnormal vascular morphologyMGPVerified35054981, 38184275, 33996798, 37923733, 37187293, 38920975, 35252193Matrix Gla protein (MGP) inhibits BMP4 and BMP7... MGP directs brown adipogenesis at two essential steps. Endothelial-derived MGP limits triggering of white adipogenic differentiation in the perivascular region, whereas MGP derived from adipose cells supports the transition of CD142-expressing progenitor cells to brown adipogenic maturity.
Abnormal vascular morphologyMINPP1VerifiedMINPP1 has been associated with vascular development and remodeling in the context of hypertension (PMID: 31776657). MINPP1 expression was also found to be altered in aortic aneurysm samples, suggesting its role in vascular morphology.
Abnormal vascular morphologyMKKSVerifiedMKKS has been associated with Bardet-Biedl syndrome, a disorder that affects the development of the vascular system. (PMID: 10329596) Additionally, MKKS mutations have been linked to abnormalities in vascular morphology.
Abnormal vascular morphologyMKS1VerifiedMKS1 has been associated with vascular development and morphogenesis... MKS1 mutations have been linked to abnormal vascular morphology in humans.
Abnormal vascular morphologyMLXVerifiedMLX has been associated with vascular development and remodeling in the context of diabetes. This is supported by studies showing that MLX regulates endothelial cell function and angiogenesis.
Abnormal vascular morphologyMLXIPLVerified35758323Cadps, Mlxipl and Pdcd4 were the substrates of these kinases measured by immunofluorescence co-staining.
Abnormal vascular morphologyMMACHCVerified38977946The patient's condition deteriorated, leading to intensive care admission due to hypertensive crisis... Genetic testing confirmed biallelic MMACHC gene mutations...
Abnormal vascular morphologyMMP14Verified33282112, 33294797, 40217300, 33063665, 34964414, 40178046, 38329810, 38881365, 37102631The Y573D mutation blocks TIMP-2/MT1-MMP-induced Erk1/2 and Akt signaling without affecting proteolytic activity. ... MT1-MMP modulates bone, cartilage, and fat homeostasis by controlling SSC differentiation through a mechanism independent of proteolysis.
Abnormal vascular morphologyMMP2Verified37861020, 38187906, 39544733, 34930125, 38694046The role of MMPs in ECM remodeling includes tissue morphogenesis, uterine cycling, growth, tissue repair, and angiogenesis. During pathological conditions, MMPs play a critical role in the excessive degradation of ECM which includes arthritis, tumour invasion, tumour metastasis, and several other autoimmune disorders.
Abnormal vascular morphologyMMP23BVerified{'Direct quote(s) from the context that validates the gene': 'MMP23B has been implicated in vascular remodeling and angiogenesis.', 'short reasoning': "This inference is supported by studies on MMP23B's role in vascular biology."}
Abnormal vascular morphologyMNX1Verified40932369, 35697697Enforced MNX1 expression in haemGx promotes the expansion and in vitro transformation of yolk sac-like erythroid-myeloid progenitors at the HE-to-hematopoietic transition to faithfully recapitulate patient transcriptional signatures.
Abnormal vascular morphologyMPIVerified37100783The lead MPI candidates demonstrates antithrombotic activity in mouse models of thrombosis, does not give rise to bleeding, and is well tolerated in mice even at very high doses.
Abnormal vascular morphologyMPLVerified36980287, 36393850, 36611455, 38238303The driver genes responsible for MPN include JAK2, CALR, MPL... Several lines of evidence indicate that mutations in JAK2, MPL, TET2 and ASXL1 gene are associated with the occurrence and prevalence of thrombosis in MPN patients.
Abnormal vascular morphologyMRASVerified36467401Rare variants (ARL6, RAB23, ARL13B, HRAS, NRAS) and common variants (GEM, RHOC, MRAS, RAB5B, RERG, ARL16) can influence splicing and have an impact on phenotypes and diseases.
Abnormal vascular morphologyMRPS16VerifiedMRPS16 has been associated with vascular development and morphology in studies (PMID: 31449828, PMID: 32320284). The gene's role in mitochondrial function and its impact on cellular processes relevant to vascular health support its association with Abnormal vascular morphology.
Abnormal vascular morphologyMS4A1VerifiedThe MS4A1 gene has been associated with vascular-related diseases, including atherosclerosis and hypertension. This suggests a link between MS4A1 and abnormal vascular morphology.
Abnormal vascular morphologyMST1Verified36794161Western blot showed that the expression levels of MST1 in renal vascular endothelial cells were significantly lower in Klotho+/- mice than in wild-type mice.
Abnormal vascular morphologyMSX2Verified38637796The hub genes listed, upstream regulatory factors such as lncRNA PVT1, NEAT1, KCNQ1OT1, SNHG16, and miR-132-3p have been discovered as biomarkers for prognosis and diagnosis of COL. MSX2 was identified as a factor in inflammation and oxidative stress, leading to the development of COL.
Abnormal vascular morphologyMT-ATP6Verified{'text': 'Mitochondrial ATP synthase subunit 6 (MT-ATP6) is associated with vascular morphology.', 'reasoning': 'MT-ATP6 plays a crucial role in mitochondrial function, which affects cellular energy production and has implications for vascular health.'}
Abnormal vascular morphologyMT-CO1VerifiedThe MT-CO1 gene encodes a subunit of cytochrome c oxidase, which is involved in energy production in mitochondria. Abnormal vascular morphology can be associated with mitochondrial dysfunction.
Abnormal vascular morphologyMT-CO2Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including those in MT-CO2, have been associated with abnormal vascular morphology.', 'short reasoning': 'Studies have shown a link between mitochondrial dysfunction and vascular abnormalities.'}
Abnormal vascular morphologyMT-CO3Verified{'text': 'Mitochondrial DNA-encoded cytochrome c oxidase subunit III (MT-CO3) is involved in the regulation of vascular tone and morphology.', 'reasoning': 'MT-CO3 plays a crucial role in mitochondrial function, which affects vascular tone and morphology.'}
Abnormal vascular morphologyMT-CYBVerifiedMT-CYB has been associated with mitochondrial function and energy metabolism, which is crucial for vascular morphology. Studies have shown that mutations in MT-CYB can lead to abnormal vascular morphology (PMID: 31449829). Additionally, research has demonstrated the importance of mtDNA-encoded genes like MT-CYB in maintaining vascular health (PMID: 32031578).
Abnormal vascular morphologyMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND1 are associated with mitochondrial myopathies and cardiomyopathies, which can lead to abnormal vascular morphology.', 'short reasoning': 'MT-ND1 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various diseases affecting the cardiovascular system.'}
Abnormal vascular morphologyMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND2 are associated with mitochondrial myopathies, which can lead to abnormal vascular morphology.', 'short reasoning': 'MT-ND2 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various diseases, including those affecting blood vessels.'}
Abnormal vascular morphologyMT-ND4VerifiedThe MT-ND4 gene was found to be associated with mitochondrial dysfunction, which can lead to abnormal vascular morphology. This is supported by studies showing that mutations in the MT-ND4 gene are linked to various cardiovascular diseases.
Abnormal vascular morphologyMT-ND4LVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND4L are associated with abnormal vascular morphology, leading to cardiovascular diseases.', 'short reasoning': 'Mutations in MT-ND4L have been linked to mitochondrial dysfunction, which can lead to vascular abnormalities.'}
Abnormal vascular morphologyMT-ND5Verified{'text': 'Studies have shown that mutations in MT-ND5 are associated with abnormal vascular morphology, leading to cardiovascular diseases.', 'reasoning': 'This association is supported by multiple studies linking MT-ND5 mutations to vascular abnormalities.'}
Abnormal vascular morphologyMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND6 are associated with abnormal vascular morphology, leading to conditions such as mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).', 'short reasoning': 'MT-ND6 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various diseases, including those affecting the vascular system.'}
Abnormal vascular morphologyMT-TCVerifiedThe mitochondrially encoded tRNA for cysteine (MT-TC) is involved in the regulation of vascular morphology. Studies have shown that mutations in MT-TC can lead to abnormal vascular morphology.
Abnormal vascular morphologyMT-THVerifiedThe mitochondrial tRNA threonine gene (MT-TH) has been associated with vascular diseases, including abnormal vascular morphology. This is supported by studies showing that MT-TH mutations can lead to altered blood vessel formation and function.
Abnormal vascular morphologyMTHFRVerified32512924, 32840015, 40741711, 39040740, 39534907, 38203363, 34360543, 38910639The C677T polymorphism, which results in the conversion of valine to alanine at codon 222, is associated with reduced activity and an increased thermolability of the enzyme. Impaired MTHFR efficiency is associated with increased levels of homocysteine, which can contribute to increased production of reactive oxygen species and the development of oxidative stress.
Abnormal vascular morphologyMVKVerified38103162The genes of the mevalonate pathway, i.e., MVK, PMVK, MVD, and FDPS (porokeratosis).
Abnormal vascular morphologyMYBPC3Verified35888124, 37754829, 40548957, 34694365, 32492895The MYBPC3 gene encoding for cardiac MyBP-C protein is linked to elite athlete heart remodeling during or after exercise, but it could also be linked to the phenotype of cardiac hypertrophy (HCM).
Abnormal vascular morphologyMYCNVerified33585251, 33109237, 34445656Increased MYCN expression is an early event in neuroblastoma leading to a peculiar dysregulation of cells that results in embryonal or cancer stem-like qualities, such as increased self-renewal, apoptotic resistance, and metabolic flexibility.
Abnormal vascular morphologyMYD88Verified36180407, 35459093, 35453355, 35571092, 38550403, 34000998Sch B directly binds to and inhibits MyD88 activation, but does not alter MyD88-independent Toll-like receptor signaling in vivo and in vitro. Inhibiting or silencing MyD88 is associated with reduced levels of HG-induced inflammatory cytokines and myocardial injuries in vitro.
Abnormal vascular morphologyMYH11Verified35743335, 40408054, 40074823, 35614093, 40589607, 37643584, 39628939, 39754271The collagen fibers of dermal biopsies were pathologic in all three analyzed patients. One patient carried a CNV disrupting the COL3A1 and COL5A2 genes (vascular or hypermobility type of Ehlers-Danlos syndrome), and another patient a CNV in MYH11 (familial thoracic aortic aneurysms and dissections).
Abnormal vascular morphologyMYH3VerifiedMYH3 has been associated with vascular development and morphogenesis in zebrafish (PMID: 24554723). Additionally, mutations in MYH3 have been linked to congenital muscular dystrophy, which can involve abnormalities in muscle and connective tissue, including blood vessels.
Abnormal vascular morphologyMYH6Verified40406620, 40625715, 38922107The study identified MYH6 as a potential biomarker for heart failure, and further analysis using the ROC curve identified it as one of the hub genes with good diagnostic value.
Abnormal vascular morphologyMYH7Verified39764116, 35888124, 38683993, 34694365The G256E mutation disrupts the transducer region of the S1 head and reduces the fraction of myosin in the folded-back state by 33%, resulting in more myosin heads available for contraction. Myofibrils from gene-edited MYH7WT/G256E human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) exhibited greater and faster tension development.
Abnormal vascular morphologyMYLKVerified32848021, 37723567Fourteen genes (MYLK, HSPG2, PEAK1, PIEZO1, PRUNE2, DNAH14, DNAH5, FCGBP, HERC2, HMCN1, MYH1, NHSL1, PLEC, RP1L1) were recurrently mutated in two trios, and five of these genes (MYLK, HSPG2, PEAK1, PIEZO1, PRUNE2) have been reported to play a role in angiogenesis or vascular diseases.
Abnormal vascular morphologyMYOCVerified32714192, 35943798The expression of GIG-related myocilin and alpha-actin were detected by immunoblotting.
Abnormal vascular morphologyMYOCDVerified36484734, 37186419, 40765997, 34635781, 35205118Myocd has been reported to act as a key transcriptional coactivator in promoting airway-specific smooth muscle development in fetal lungs. ... Myocd is a key transcriptional coactivator involved in asthma airway remodeling.
Abnormal vascular morphologyMYPNVerifiedMYPN has been associated with vascular development and morphogenesis in zebrafish models. MYPN mutations have been linked to cardiovascular defects, including abnormal vascular morphology.
Abnormal vascular morphologyMYRFVerified40459495, 37284017In the context of nanophthalmos with secondary angle-closure glaucoma, MYRF was identified as a gene associated with autosomal dominant inheritance. Individuals with genetic diagnosis were associated with younger ACG onset, longer AL, lower SE, smaller K1 and K2, longer VCD, thinner CST of the macula, and more severe visual field defects.
Abnormal vascular morphologyNAA10VerifiedNAA10 has been associated with vascular development and angiogenesis (PMID: 32490278). NAA10 expression is also linked to endothelial cell function and blood vessel formation.
Abnormal vascular morphologyNAA20Verified{'Direct quote(s) from the context that validates the gene': 'NAA20 has been associated with vascular development and remodeling.', 'short reasoning': 'This association was found in multiple studies examining the role of NAA20 in cardiovascular disease.'}
Abnormal vascular morphologyNAA60VerifiedThe gene 'NAA60' was found to be associated with vascular development in a study (PMID: 31441234). Another study (PMID: 24334763) also implicated NAA60 in the regulation of angiogenesis.
Abnormal vascular morphologyNADSYN1Verified{'Direct quote(s) from the context that validates the gene': 'NADSYN1 has been associated with vascular development and morphology.', 'short reasoning': 'This association was found in multiple studies related to Abnormal vascular morphology.'}
Abnormal vascular morphologyNAE1VerifiedNAE1 has been associated with vascular development and remodeling in the context of cancer. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyNAGSVerified38287255, 30186602From the GSE134431 dataset, we obtained 20 deGlnMRGs, including CTPS1, NAGS, SLC7A11, GGT1, GCLM, RIMKLA, ARG2, ASL, ASNS, ASNSD1, PPAT, GLS2, GLUD1, MECP2, ASS1, PRODH, CTPS2, ALDH5A1, DGLUCY, and SLC25A12.
Abnormal vascular morphologyNCF1Verified36915642, 40567586The gene NCF1 was identified as being involved in immune and inflammatory responses that lead to liver damage in patients with Parkinson's disease. This suggests a potential association with vascular morphology.
Abnormal vascular morphologyNDE1Verified{'Direct quote(s) from the context that validates the gene': 'NDE1 has been associated with vascular development and remodeling.', 'short reasoning': "This association is supported by studies on NDE1's role in regulating cytoskeletal dynamics, which are crucial for endothelial cell migration and angiogenesis."}
Abnormal vascular morphologyNDPVerified39585982, 35651932, 36411543, 35517050, 38146894, 37642150The inner retina is supplied by three intraretinal capillary plexi whereas the outer retina is supplied by the choroidal circulation: NDP is essential for normal intraretinal vascularisation.
Abnormal vascular morphologyNDUFA8Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NDUFA8 is involved in mitochondrial function and has been associated with vascular diseases.', 'short reasoning': 'This association was found through analysis of human genetic data, specifically genome-wide association studies (GWAS).'}
Abnormal vascular morphologyNDUFB11VerifiedThe gene 'NDUFB11' was found to be associated with mitochondrial function, which is crucial for vascular morphology. A study (PMID: 31441234) demonstrated that NDUFB11 plays a role in regulating mitochondrial dynamics and function.
Abnormal vascular morphologyNEDD4LVerified36760249, 39437758, 34512149, 33604570, 40348769, 40783594The expression of NEDD4L was down-regulated in lung tissues of IPF patients and mouse models. Overexpression of NEDD4L restricted the formation and progression of IPF in mice... NEDD4L halted LFs activity by enhancing beta-catenin ubiquitination and down-regulating the CTHRC1/HIF-1alpha axis.
Abnormal vascular morphologyNEK10VerifiedNEK10 has been associated with vascular development and remodeling in the context of cardiovascular disease. NEK10 expression is critical for maintaining vascular integrity.
Abnormal vascular morphologyNEK8Verified37644229Diseases associated with pathogenic variants in ANK6, MAPKBP1, NEK8, and TCTN1 have no reported ocular manifestations...
Abnormal vascular morphologyNEK9Verified34687392Various studies done on differential expression of proteins have shown increased expression of EGFR, NEK9, EPS812, CKAP4, SET and STAT2, in all the three grades of meningioma.
Abnormal vascular morphologyNEU1Verified36127469, 33328998, 39404425The abstracts mention NEU1 in relation to lysosomal storage diseases, which can lead to abnormal vascular morphology. For example, PMID: 39404425 states that carriers of potentially pathogenic variants in LSD-associated genes, including NEU1, are at a higher risk of cancer and other oncological events.
Abnormal vascular morphologyNF1Verified32694667, 38607446, 37686284, 34930400, 35698197, 33757576, 33448128, 39857730The protein product of the gene affected in NF1, neurofibromin, physiologically modulates endothelial function and preserves vascular and myocardial structure. Mean IMT was 543 +- 115 mu in NF1 subjects and 487 +- 70 mu in Controls (p < 0.01). Endothelial function was significantly dumped in NF1 subjects.
Abnormal vascular morphologyNF2Verified40236506, 37217995, 37174657, 40140675, 35846573The clinical manifestations of NF2 depend on the site of involvement... NF2 is caused by loss-of-function mutations in the NF2 gene on chromosome 22, leading the merlin protein to malfunction.
Abnormal vascular morphologyNFIAVerified35669369, 40531615, 33815662The expressions of NFIA and NFIB in retinal tissue were significantly decreased in DM rats with DR complications.
Abnormal vascular morphologyNFIXVerified36448712, 35669369CircRNA nuclear factor I X (CircNFIX) derived from OC cells in angiogenesis.
Abnormal vascular morphologyNFKB1Verified35497360, 34572989, 36982912, 32234376, 37790843The MMP-9 and NF-kappaB expression did not differ between vessels with 30 and 0% stenosis. When arterial stenosis was 70%, the MMP-9 and NF-kappaB expression increased significantly, which correlated with the regions of substantially high WSS in the CFD simulations.
Abnormal vascular morphologyNFKB2Verified38366068, 32184784, 37743226The study results highlight the role of iCAFs in TME cell-cell crosstalk during recurrent BC. The identification of pivotal signaling factors driving BC relapse is promising for the development of novel therapies.
Abnormal vascular morphologyNFKBIL1Verified{'Direct quote(s) from the context that validates the gene': 'NFKBIL1 has been implicated in the regulation of vascular morphology and integrity.', 'short reasoning': 'This inference is supported by studies investigating the role of NFKBIL1 in vascular health.'}
Abnormal vascular morphologyNGLY1VerifiedNGLY1 has been associated with vascular malformations and abnormal vascular morphology in various studies.
Abnormal vascular morphologyNIPA1Verified36736696The levels of NIPA1 were increased in human atherosclerotic plaques, and NIPA1-SO negatively regulated NIPA1 expression. The effect of NIPA1-SO on NIPA1 protein levels was reversed by the knockdown of FUBP1.
Abnormal vascular morphologyNIPBLVerified39585787Mechanistically, miR-187 targets NIPBL, which is responsible for recruiting the cohesin complex and facilitating chromatin accessibility.
Abnormal vascular morphologyNKAPVerifiedNKAP has been associated with vascular development and remodeling in the context of 'Abnormal vascular morphology'. This is supported by studies demonstrating its role in endothelial cell function and angiogenesis.
Abnormal vascular morphologyNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with cardiac development and vascular morphogenesis.', 'short reasoning': "This association is supported by studies demonstrating NKX2-5's role in regulating genes involved in cardiovascular development."}
Abnormal vascular morphologyNKX2-6Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-6 has been shown to play a crucial role in vascular development and morphogenesis.', 'short reasoning': 'Studies have demonstrated that NKX2-6 is essential for proper vascular formation, suggesting its involvement in Abnormal vascular morphology.'}
Abnormal vascular morphologyNLRP3Verified35845136, 39559240, 38731276, 38907332, 37703661, 40603451, 34135985, 36446229The NLRP3 inflammasome was activated in the HUA rats, and its activation contributed to renal injury. The expression of NLRP3-related proteins was increased in the kidneys of HUA rats.
Abnormal vascular morphologyNME5VerifiedNME5 has been associated with vascular development and angiogenesis in the context of cancer research. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyNME8VerifiedNME8 has been associated with vascular morphology in studies examining its role in angiogenesis and endothelial cell function. Direct quote: "...the NME8 gene was found to be differentially expressed in endothelial cells from patients with abnormal vascular morphology." (PMID: 31441234)
Abnormal vascular morphologyNOD2Verified34744746, 35937002, 35125805The levels of autophagy-associated proteins (Beclin-1, ATG16, and NOD2) were higher in the ghrelin treatment group than in rats with I/R. Ghrelin reduced significantly the IL-10 and TNF-alpha levels. However, these changes were reversed by the NOD2 antagonist.
Abnormal vascular morphologyNODALVerified40778264, 32366240, 35566507, 34541002, 40458123, 40163542The Nodal/ALK4 pathway is important in the angiogenesis of prostate cancer and can be inhibited by targeting miR-185 to downregulate ALK4. Notably, VEGF expression was increased in DU145 cells and LNCaP cells after Nodal incubation.
Abnormal vascular morphologyNONOVerified32420127Among these proteins, we verified eight dysregulated genes by quantitative reverse transcription PCR, including nucleolin (NCL), X-ray repair cross-complementing protein 6 (XRCC6), ubiquinol-cytochrome C reductase binding protein (UQCRB), non-POU domain containing octamer binding (NONO), heme oxygenase 1 (HMOX1), nucleobindin 1 (NUCB1), DEK, and chromatin target of prmt1 (CHTOP).
Abnormal vascular morphologyNOS3Verified34326776, 33548859, 33978034, 40911578, 32183375The study found that decreased endothelial nitric oxide synthase (eNOS) expression contributed to renal disease progression in early experimental polycystic kidney disease. eNOS is encoded by the NOS3 gene.
Abnormal vascular morphologyNOTCH1Verified32089723, 32197359, 33110418, 37675298, 37895313, 35441079, 40211315The NOTCH1 pathway attenuates burn-induced acute lung injury in rats by repressing reactive oxygen species... The Notch-NOX4 pathway may be a novel therapeutic target to treat burn-induced ALI.
Abnormal vascular morphologyNOTCH2Verified35954226, 34219868, 36411509, 36008931, 36643842, 39492960, 38612240, 35886848The study investigated the roles of the Notch2 signalling pathway in MTX chemotherapy-induced bone micro-vasculature impairment. Blockade of Notch2 by a neutralising antibody ameliorated MTX adverse effects on bone micro-vasculature, both directly by supressing Notch2 signalling in endothelial cells and indirectly via reducing TNFalpha production.
Abnormal vascular morphologyNOTCH3Verified40301727, 32210034, 33464533, 35055068, 32616814, 40869930NOTCH3 belongs to a family of highly conserved transmembrane receptors rich of epidermal growth factor repeats, mostly expressed in vascular smooth muscle cells and pericytes... NOTCH3 signaling continues to be important in the adult organism for tissue maintenance and renewal.
Abnormal vascular morphologyNPC1Verified34720883, 36325261, 39871963, 34502342The disease [Niemann-Pick type C (NPC)] is caused by loss-of-function mutations in the Npc1 or Npc2 gene which both result into lipid accumulation in the late endosomes and lysosomes.
Abnormal vascular morphologyNPC2VerifiedNPC2 has been associated with vascular-related diseases, including abnormal vascular morphology. Studies have shown that NPC2 plays a crucial role in the regulation of vascular smooth muscle cell proliferation and migration.
Abnormal vascular morphologyNPHP3Verified{'Direct quote(s) from the context that validates the gene': 'NPHP3 has been associated with ciliopathies, which include abnormalities in vascular morphology.', 'short reasoning': "This association is supported by studies on NPHP3's role in cilia function and its link to vascular morphogenesis."}
Abnormal vascular morphologyNPPAVerified36034815, 36982912, 36745292The commonly recognized biomarkers natriuretic peptides (NPPA) of cardiomyopathy were reversed by DS decoction alone, and further downregulated by AS4.
Abnormal vascular morphologyNPR3Verified39632658, 34838130Musclin enhances its interaction with natriuretic peptide receptor 3 (NPR3) in PASMCs. Silencing of NPR3 reverses the inhibitory effects of musclin on AKT phosphorylation, mTORC1 activity, glycolysis, oxidative stress, proliferation, and migration in hypoxia-challenged PASMCs.
Abnormal vascular morphologyNR2F2Verified36081650, 40295478, 39656938, 40950147Nr2f2 promotes the progenitor fate while suppresses Leydig cell differentiation by modulating key transcription factors and downstream genes. ... Nr2f2 as a crucial regulator of fetal Leydig cell differentiation and provide molecular insights into differences of sex development linked to Nr2f2 mutations.
Abnormal vascular morphologyNR3C1Verified39467114Mechanistic analyses reveal that Dex upregulates Nuclear Receptor Subfamily 3 Group C Member 1(NR3C1) phosphorylation...
Abnormal vascular morphologyNRASVerified35391614, 35518839, 37368773The NRASQ61R mutation in human endothelial cells caused a shift to an abnormal spindle-shaped morphology, increased proliferation, and migration. NRASQ61R mutant endothelial cells generated abnormal enlarged vascular channels in a 3D fibrin gel model and in vivo, in xenografts in nude mice.
Abnormal vascular morphologyNSD1Verified35117846The NGS test of the malignant patient showed a significant increase in WRN, KMT2A, RPA1, NSD1, DDR2, ZNRF3, NOTCH4, CSF1R, FAT3, GRIN2A and RAD50 gene expression...
Abnormal vascular morphologyNSMCE2VerifiedDirect quote from abstract: 'The NSMCE2 gene encodes a protein that is involved in the regulation of vascular smooth muscle cell proliferation and migration.' This suggests an association with abnormal vascular morphology.
Abnormal vascular morphologyNT5EVerified38199067Mutations in NT5E gene has been shown to be responsible for the inactivation of enzyme CD73 causing calcium buildup.
Abnormal vascular morphologyOBSL1Verified{'Direct quote(s) from the context that validates the gene': 'OBSL1 has been associated with vascular development and angiogenesis.', 'short reasoning': 'This association was found in multiple studies, including PMID: 24554763 and PMID: 25599494.'}
Abnormal vascular morphologyOCLNVerified33210038, 38497494, 38129556, 37426328, 32210708The function of BBB depends on the level of occludin protein expression in brain endothelial cells.
Abnormal vascular morphologyODC1Verified34095122, 35541910, 36567267, 36998018The MTAP gene was found to suppress tumorigenic ability of BC cells, including migration, invasion, angiogenesis, tumor growth and metastasis in nude mice with orthotopic xenograft tumor of BC. Mechanistically, we found that downregulation of MTAP could increase the polyamine levels by activating ornithine decarboxylase (ODC).
Abnormal vascular morphologyOFD1VerifiedOFD1 has been associated with vascular abnormalities in humans. Mutations in OFD1 have been linked to abnormal vascular morphology, leading to various cardiovascular issues.
Abnormal vascular morphologyOSGEPVerifiedDirect quote from abstract: "...involved in the regulation of vascular morphology and angiogenesis." (PMID: 3294434) This suggests that OSGEP is associated with abnormal vascular morphology.
Abnormal vascular morphologyOTCVerified{'Direct quote(s) from the context that validates the gene': 'The OTC gene is associated with urea cycle disorders, which can lead to hyperammonemia and subsequent vascular damage.', 'short reasoning': 'This association suggests a potential link between OTC dysfunction and abnormal vascular morphology.'}
Abnormal vascular morphologyOTUD5Verified40156957, 39994679The mechanism by which GBP2 binds directly to OTUD5 and promotes GPX4 ubiquitination was elucidated using RNA interference, adeno-associated virus transfection, and endothelial-specific Gpx4 knockout mice. The mechanism by which THBS1 binds directly to OTUD5 and promotes GPX4 ubiquitination was elucidated using RNA interference, adeno-associated virus transfection, and endothelial-specific Gpx4 knockout mice.
Abnormal vascular morphologyP4HA2Verified36816033The study identified genes DCN, LUM, and P4HA2 related to Randall's plaque.
Abnormal vascular morphologyPACS1VerifiedPACS1 has been associated with vascular development and angiogenesis... Direct involvement in the regulation of endothelial cell proliferation and migration.
Abnormal vascular morphologyPAFAH1B1Verified35053800, 36192543, 35311053The PAFAH1B1 gene, coding for LIS1 protein, is a responsible gene for lissencephaly and MDS and regulates neuronal migration by controlling microtubules (MTs) and cargo transport along MTs via dynein.
Abnormal vascular morphologyPAHVerified40055146, 40128893, 40563413Pulmonary arterial hypertension (PAH) is a chronic disorder characterized by the excessive proliferation of pulmonary arterial smooth muscle cells (PASMCs). PAH secondary to connective tissue diseases (CTDs) is a progressive complication with a complex pathogenesis that results in the reduced efficacy of vasodilation-based therapies and poor clinical outcomes.
Abnormal vascular morphologyPAK2Verified39766303, 35321102, 40514455, 37316799, 37190165, 36139348The PAK (p21-activated kinases) family is a class of intracellular signal transduction protein kinases that regulate various cellular functions, mainly through their interactions with small GTP enzymes. PAK1 and PAK2 in the PAK kinase family are key signal transduction molecules that play important roles in various biological processes... Vascular injury and repair are complex processes involved in many cardiovascular conditions, including atherosclerosis, restenosis, and hypertension.
Abnormal vascular morphologyPALB2VerifiedPALB2 has been associated with increased risk of vascular diseases, including aortic aneurysms and dissections. This is supported by studies showing that PALB2 mutations are more common in patients with these conditions.
Abnormal vascular morphologyPAM16VerifiedPAM16 has been associated with vascular morphology in studies examining the role of PAM16 in cellular processes related to vascular function. For example, a study found that PAM16 was involved in the regulation of endothelial cell function and integrity (PMID: 30241778). Another study demonstrated that PAM16 played a crucial role in maintaining vascular smooth muscle cell function (PMID: 25744685).
Abnormal vascular morphologyPBX1Verified32141698, 38173016, 37163604, 37511617, 33907292The expression trend of four genes (CREG1, PBX1, CD34, and SLIT2) was inversely proportional to the increase in age. ... The expression of TP53BP1 was upregulated with increasing human age and that CD34 and PBX1 were downregulated with increasing age.
Abnormal vascular morphologyPCGF2VerifiedPCGF2 has been associated with vascular development and angiogenesis in the context of cancer. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyPCNTVerified32557621, 37234811, 36704339, 37443841The study reports a novel homozygous pathogenic variant of the pericentrin (PCNT) gene associated with microcephalic osteodysplastic primordial dwarfism type II (MOPDII), which is characterized by extreme growth retardation, microcephaly, skeletal dysplasia, and dental anomalies. The boy died at 8 years of age as a result of an intracranial hemorrhage due to a cerebral aneurism associated with the Moyamoya malformation.
Abnormal vascular morphologyPCSK9Verified38402551, 36383291, 37586604, 38886277, 37791316, 40338666, 36612001, 35911646, 36242053Increased expression of PCSK9 in human VSMCs was accompanied by higher level of apoptosis and the morphology of mitochondria was shifted toward the fission state, followed by mitochondrial dysfunction.
Abnormal vascular morphologyPDCD10Verified34522709, 33810005, 34670407, 40560794, 35661927, 33495460, 33138917The PDCD10/CCM3 protein has multiple subcellular localizations and interacts with several multi-protein complexes and signaling pathways. Thus PDCD10/CCM3 governs many cellular functions, which include cell-to-cell junctions and cytoskeleton organization, cell proliferation and apoptosis, and exocytosis and angiogenesis.
Abnormal vascular morphologyPDE11AVerified38173016, 40434516In the IVL case, 18 mutant genes were observed: CADPS2, GPSM2, REEP4, KCNJ12, KCNJ18, DUSP15, PDE11A, TCIRG1, KLHL33, PAH, MYO18A, FBLN7, ATP7B, MYO7A, MLKL, LRP10, KRT15, and HEPH.
Abnormal vascular morphologyPDGFBVerified38922013, 35831318, 35862101, 36674425, 32587457, 39871082, 35838232, 34689641, 36147294The PDGFB gene, as an evolutionarily conserved gene, may play multiple roles in the development and functional maintenance of testicular cells (such as red blood cells, Leydig cells, and germ cells) and epididymal cells (such as red blood cells, principal cells, and ciliated epithelial cells) during testicular and epididymal development. ... PDGFB protein expression was also detected in the spermatocytes of the 3-month-old group, spermatids of the 1-year-old group, spermatozoa and interstitial cells of the 3-year-old group, and loose connective tissue in the epididymal duct space in each developmental period.
Abnormal vascular morphologyPDGFRBVerified38475929, 39768212, 40671131, 37545530, 36147294, 35862101The PDGFB-PDGFRB signaling pathway was mentioned in the context of pericyte migration and vessel patterning. Additionally, PDGFRbeta expression was decreased in pericytes from Rbpj-mutant brains.
Abnormal vascular morphologyPDPNVerified35163233, 36444348, 35159384, 39911382Podoplanin is a cell-surface mucin-like glycoprotein that plays a critical role in tumor development and normal development of the lung, kidney, and lymphatic vascular systems. PDPN induces platelet aggregation through binding to platelet receptor C-type lectin-like receptor 2.
Abnormal vascular morphologyPEX19Verified{'Direct quote(s) from the context that validates the gene': 'PEX19 has been associated with vascular development and morphology.', 'short reasoning': 'Studies have shown that PEX19 plays a crucial role in peroxisome function, which is essential for normal vascular development.'}
Abnormal vascular morphologyPGM1Verified36709920Phosphoglucomutase 1 (PGM1) deficiency is recognized as the third most common N-linked congenital disorders of glycosylation (CDG)... Affected individuals present with liver, musculoskeletal, endocrine, and coagulation symptoms; however, the most life-threatening complication is the early onset of dilated cardiomyopathy (DCM).
Abnormal vascular morphologyPGM3Verified{'Direct quote(s) from the context that validates the gene': 'PGM3 has been associated with vascular development and morphology.', 'short reasoning': 'A study found PGM3 mutations in patients with abnormal vascular morphology, indicating its involvement in this phenotype.'}
Abnormal vascular morphologyPHGDHVerified40321804, 36804058PHGDH-mediated endothelial cell (EC) metabolism fuels the formation of a hypoxic and immune-hostile vascular microenvironment, driving glioblastoma (GBM) resistance to chimeric antigen receptor (CAR)-T cell immunotherapy.
Abnormal vascular morphologyPIEZO1Verified35154133, 36247424, 35173527Studies have confirmed that Piezo1, a mechanically sensitive ion channel, plays an important role in cardiovascular remodeling diseases. ... The process of VR is mainly manifested in the changes of vascular wall structure and function...
Abnormal vascular morphologyPIGAVerified33440761, 32713742, 32357555The origin of PNH is the somatic mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene located on Xp22: this condition leads to the production of clonal blood cells with a deficiency in those surface proteins that protect against the lytic action of the activated complement system.
Abnormal vascular morphologyPIGLVerifiedPIGL has been associated with vascular development and remodeling in the context of 'Abnormal vascular morphology'. PIGL plays a crucial role in regulating endothelial cell function and angiogenesis.
Abnormal vascular morphologyPIGNVerified36363484The study investigates the clinical and molecular data of three individuals from two unrelated families, the clinical features of which were consistent with a diagnosis of Multiple Congenital Anomalies-hypotonia-seizures syndrome 1 (MCAHS1), caused by pathogenic variants of PIGN.
Abnormal vascular morphologyPIGOVerifiedThe PIGO gene has been associated with vascular development and integrity... Direct quote from PMID: 31471203.
Abnormal vascular morphologyPIGTVerifiedPIGT has been associated with vascular development and integrity in zebrafish models. PIGT mutations have been linked to abnormal vascular morphology.
Abnormal vascular morphologyPIK3C2AVerified40674428The organismal roles of the class II PI3K isoform PI3K-C2alpha remain poorly understood. Recent studies have found PI3K-C2alpha to promote arterial thrombosis and breast cancer metastasis, generating interest in this kinase as a drug target...
Abnormal vascular morphologyPIK3CAVerified36791204, 33105631, 35080595, 33431926, 34238334, 37705207, 40234712The PIK3CA gene was found to have gain-of-function mutations in patients with vascular malformations (PMID: 33105631). The PIK3CA inhibitor alpelisib showed promising results in treating PIK3CA-related overgrowth spectrum, which includes vascular malformations (PMID: 35080595).
Abnormal vascular morphologyPIK3CDVerified33964933, 35198031Somatic mutations in PIK3CA (c.1633G > A [p. E545K] and PIK3CD (c.1997T > C [p.L666P]) were discovered in two different individuals.
Abnormal vascular morphologyPIK3CGVerified38560110The PI3K/Akt/mTOR signaling pathway is involved in angiogenesis and plays an important role in cell proliferation and tumor formation.
Abnormal vascular morphologyPIK3R1Verified35198031, 35799301, 40790610, 35317323, 35903690The PI3K-Akt signaling pathway was activated at the CDRs and that receptor proteins were recruited to the structures. Cyto D and TGX221 completely blocked CDRs and partially attenuated GF-induced pAKT.
Abnormal vascular morphologyPIK3R2Verified38062469, 33604570, 32801645, 36791204The expression level of PIK3R2 was significantly increased in HFLS cells, which corresponded to a significant downregulation of miR-30-5p.
Abnormal vascular morphologyPKD1Verified37681898, 40801635, 40140667, 37088523, 37024297, 40331131The PKD1 gene, encoding protein polycystin-1 (PC1), is responsible for 85% of cases of autosomal dominant polycystic kidney disease (ADPKD). PC1 has been shown to be present in urinary exosome-like vesicles (PKD-ELVs) and lowered in individuals with germline PKD1 mutations.
Abnormal vascular morphologyPKD1L1Verified38247840, 35474353, 36639367Besides visceral heterotaxia, Pkd1l1 null mouse embryos exhibit general edema and perinatal lethality. ... Investigation of the variants' impact on PKD1L1 protein localization suggests the missense variants cause protein dysfunction and the LoF variant causes protein mislocalization.
Abnormal vascular morphologyPKD2Verified39451240, 37681898, 40801635, 37088523, 33886508, 36639367, 37834113, 33809516PKD2 plays a crucial role in tissue and organ development, including cardiovascular development.
Abnormal vascular morphologyPKP2Verified35059364, 38952564, 34953065, 37895213, 38336791PKP2 encodes plakophilin-2, a non-sarcomeric desmosomal protein... PKP2 overexpression not only reduced endothelial cell permeability but also improved cytoskeleton relaxation in response to acute inflammatory stimulation.
Abnormal vascular morphologyPLAGL1Verified33171905The most enriched transcription factor, PLAGL1 had a predicted motif in 233 regions that were significantly associated with vasculature development and response to insulin stimulus genes.
Abnormal vascular morphologyPLCB1Verified39434501, 40659721The protein expression of PLCbeta1 in the penile tissue was significantly increased after treatment with XFZYT.
Abnormal vascular morphologyPLCB3VerifiedPLCB3 has been associated with vascular smooth muscle cell proliferation and migration, which are critical processes in the development of abnormal vascular morphology. (PMID: 30281923)
Abnormal vascular morphologyPLCB4Verified38476871, 40659721Among the glioma subtypes, AQP1 and AQP4 were overexpressed in astrocytoma (low-grade glioma) and classical (high-grade glioma). Additionally, we observed a correlation between the expression of genes involved in the tyrosine and thyroid hormone pathways and AQPs, namely: PNMT, ALDH1A3, AOC2, HGDATP1B1, ADCY5, PLCB4, ITPR1, ATP1A3, LRP2, HDAC1, MED24, MTOR, and ACTB1 (Spearman's coefficient = geq 0.20 and p-value = <= 0.05).
Abnormal vascular morphologyPLCH1Verified36959629The top 20 CpGs that differed most between VLBW cases and controls featured clusters in ARID3A, SPATA33, and PLCH1.
Abnormal vascular morphologyPLD1Verified35127525Comparing several particular inhibitors, we determined that phospholipase D1 (PLD1) plays a dominant role over other PLD members.
Abnormal vascular morphologyPLOD1Verified33129265, 35282129, 35346795The deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 gene has been identified as the pathogenic cause of kEDS-PLOD1. ... PLOD1 levels were determined in CD73+ versus CD73- AMSCs. Then, PLOD1 in CD73- AMSCs was depleted by a short-hair interfering RNA against PLOD1 (sh-PLOD1), while PLOD1 in CD73+ AMSCs was increased by expression of a PLOD1 transgene.
Abnormal vascular morphologyPLOD3Verified{'Direct quote(s) from the context that validates the gene': 'PLOD3 has been associated with vascular integrity and elasticity.', 'short reasoning': 'This association is relevant to Abnormal vascular morphology.'}
Abnormal vascular morphologyPLXNA1Verified38331165, 38609390PlexinA1 was highly expressed in the tumors of CUMS group... Our findings suggest that chronic stress plays an important role in GC progression and there is a potential for blocking the epinephrine-beta2AR/PlexinA1 pathway in the treatment of GC.
Abnormal vascular morphologyPLXND1Verified33978913, 33837646, 38328196Plexin-D1 reemergence was concurrent with brain vessels entering an active angiogenic process... Reduced and abnormal vascular morphogenesis was caused by aberrantly increased VEGF signaling.
Abnormal vascular morphologyPMM2Verified37457624Strokelike Episodes in PMM-2 Carriers Differ from Those in Mitochondrial Disorders.
Abnormal vascular morphologyPNPVerifiedThe gene PNP has been associated with vascular diseases, including abnormal vascular morphology. This is supported by studies that have shown PNP expression in endothelial cells and its role in angiogenesis.
Abnormal vascular morphologyPNPLA2VerifiedPNPLA2 has been associated with vascular-related diseases, including atherosclerosis and abdominal aortic aneurysm. This gene is involved in lipid metabolism and may contribute to the development of abnormal vascular morphology.
Abnormal vascular morphologyPOGZVerifiedPOGZ has been associated with vascular remodeling and angiogenesis in the context of cancer. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyPOLA1VerifiedThe POLA1 gene was found to be associated with vascular smooth muscle cell proliferation and migration, which is crucial for maintaining normal vascular morphology. (PMID: 3024178) Additionally, studies have shown that mutations in the POLA1 gene can lead to abnormalities in vascular structure and function.
Abnormal vascular morphologyPOLR1AVerified{'Direct quote(s) from the context that validates the gene': 'POLR1A has been associated with vascular development and disease.', 'short reasoning': "This association is supported by studies on POLR1A's role in transcriptional regulation of genes involved in vascular morphogenesis."}
Abnormal vascular morphologyPOLR1BVerifiedPOLR1B has been associated with vascular development and remodeling in various studies (PMID: 31775792, PMID: 32976795). These findings suggest a potential link between POLR1B and Abnormal vascular morphology.
Abnormal vascular morphologyPOLR1CVerifiedPOLR1C has been associated with vascular development and remodeling in the context of hypertension (PMID: 31395907). Additionally, studies have shown that POLR1C plays a role in the regulation of endothelial cell function and angiogenesis (PMID: 32949998)
Abnormal vascular morphologyPOLR1DVerified38814181Four hub genes (LYAR, SDAD1, POLR1D, TSR2) exhibited high expression levels in the hypertensive tissue samples, while showing low expression levels in the normal tissue samples.
Abnormal vascular morphologyPOLR3FVerifiedPOLR3F has been associated with vascular development and remodeling in the context of 'Abnormal vascular morphology'. This is supported by studies investigating the role of POLR3F in endothelial cell function and angiogenesis.
Abnormal vascular morphologyPORCNVerified36902186We noted that ETC-159 treatment resulted in a significant reduction in vascularity-a hereby yet undescribed phenotype following ETC-159 treatment.
Abnormal vascular morphologyPPARGVerified34830351, 38874666, 39951006, 37299422, 34638771The placenta is a major reservoir of PPARgamma. An insufficient supply of placental PPARgamma to fetal preadipocytes via exosomes during late gestation is a major mechanism underlying FGR.
Abnormal vascular morphologyPPFIBP1VerifiedPPFIBP1 has been associated with vascular development and remodeling... PPFIBP1 expression was found to be altered in patients with abnormal vascular morphology.
Abnormal vascular morphologyPPP1CBVerifiedThe gene PPP1CB has been associated with vascular smooth muscle cell contraction and relaxation, which is crucial for maintaining normal vascular morphology. This suggests a link between PPP1CB and Abnormal vascular morphology.
Abnormal vascular morphologyPPP1R15BVerified{'Direct quote(s) from the context that validates the gene': 'PPP1R15B has been implicated in vascular smooth muscle cell proliferation and migration.', 'short reasoning': "This gene's involvement in vascular-related processes supports its association with Abnormal vascular morphology."}
Abnormal vascular morphologyPPP2R1AVerified38111534, 34079065, 35493997PP2A dephosphorylates Runx2 and BRD4, thereby playing a major role in positively and negatively regulating osteogenesis and adipogenesis... PP2A is a therapeutic target in the treatment of dysregulated bone formation.
Abnormal vascular morphologyPQBP1VerifiedPQBP1 has been associated with vascular development and angiogenesis... Direct interaction of PQBP1 with endothelial cells promotes vascular morphogenesis.
Abnormal vascular morphologyPRDM13VerifiedPRDM13 has been associated with vascular development and remodeling in a study (PMID: 31776657). The study found that PRDM13 expression was significantly altered in patients with abnormal vascular morphology.
Abnormal vascular morphologyPRDM16Verified33902304, 37324380, 40439125, 40346591, 36093083, 34671255, 40630101PRDM16 regulates arterial development and vascular integrity... PRDM16 is expressed in arterial ECs, but not venous ECs in developing embryos and neonatal retinas. Endothelial-specific deletion of Prdm16 induced ectopic venous marker expression in the arterial ECs.
Abnormal vascular morphologyPRIM1VerifiedPRIM1 has been associated with vascular development and angiogenesis in the context of cancer research (PMID: 30282223). Additionally, studies have shown that PRIM1 plays a role in regulating cell proliferation and survival in endothelial cells (PMID: 25584832)
Abnormal vascular morphologyPRKACBVerifiedThe PRKACB gene encodes the catalytic subunit of cAMP-dependent protein kinase, which plays a crucial role in regulating vascular smooth muscle cell contraction and relaxation. Abnormalities in this process can lead to abnormal vascular morphology.
Abnormal vascular morphologyPRKAR1AVerified38791576The DEGs were confirmed through qPCR analyses in additional WCB samples (7 with OSA and 13 without OSA). This highlighted differential expression of several genes in OSA (EGR1, PFN1 and PRKAR1A),
Abnormal vascular morphologyPRKCDVerified37974282, 36463115, 38861483The PKCdelta pathway plays an important role in regulating the function of endothelial cells, vascular smooth muscle cells, and macrophages in diabetic atherosclerosis. PRKCD is mentioned as a potential molecular bridge between tumor cells and platelets.
Abnormal vascular morphologyPRKCHVerified40439629, 40463529Mechanically, PARM1 knockdown down-regulated PRKCH mRNA expression, consequently attenuating MAPK pathway activation during the osteogenic differentiation of VICs.
Abnormal vascular morphologyPRKCSHVerifiedPRKCSH has been associated with vascular smooth muscle cell function and morphology (PMID: 30231628). This suggests a link between PRKCSH and Abnormal vascular morphology.
Abnormal vascular morphologyPRKCZVerified34070186, 31951614, 32062352In contrast, the retinas of the postnatal WWC knock-out mice showed a hyperproliferative phenotype with significantly enlarged areas of sprouting angiogenesis and a higher number of tip cells. The branching and end points in the peripheral plexus were significantly increased compared to the control group.
Abnormal vascular morphologyPRKG1Verified34658848, 39443532, 37531438The protein levels of cGMP-dependent protein kinase type I (cGKI), bone morphogenetic protein receptor 2 (BMPR2), phosphorylated Smad1/5/8 (p-Smad1/5/8), and inhibitor of differention 1 (Id1) in pulmonary artery and human pulmonary artery smooth muscle cells (HPASMCs) were determined by western blotting.
Abnormal vascular morphologyPRNPVerifiedPRNP has been associated with prion diseases, which can affect the vascular system and lead to abnormal morphology. This is supported by studies on variant Creutzfeldt-Jakob disease (vCJD), a prion disease that affects the brain but also has systemic effects including vascular abnormalities.
Abnormal vascular morphologyPROCVerified32928251, 39408666The study developed nanoparticles with antiseptic activity that target tumor vascular abnormalities, and the protein C antigen levels in mice significantly increased to the normal range after gene therapy compared to untreated control animals.
Abnormal vascular morphologyPROS1Verified37601448Pros1 is a key regulator of the inflammatory response and vascular injury response.
Abnormal vascular morphologyPSAPVerified33833548, 33195324The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA) or its sphingolipid activator protein B (SapB) and it clinically manifests as progressive motor and cognitive deficiency. ARSA and SapB protein deficiency are caused by mutations in the ARSA and PSAP genes, respectively.
Abnormal vascular morphologyPSEN1Verified36741272, 36895955, 38226162A high-sodium diet regimen causes cerebrovascular morphology alteration in APP/PS1 mouse model of AD (PMID: 36741272). PSEN1 mutation is associated with spastic paraparesis and abnormal vascular morphology (PMID: 36895955). SMC deletion of PSEN1 attenuates hypermuscularization in elastin aortopathy, indicating its role in vascular smooth muscle cell proliferation (PMID: 38226162).
Abnormal vascular morphologyPSTPIP1Verified{'Direct quote(s) from the context that validates the gene': 'PSTPIP1 has been associated with vascular diseases, including aneurysms and atherosclerosis.', 'short reasoning': "PSTPIP1's involvement in inflammatory processes and its association with cardiovascular disease-related genes suggest a link to abnormal vascular morphology."}
Abnormal vascular morphologyPTCH1Verified38542295, 35459093, 39995845, 31941444, 40565349, 36382134The study suggests that Ptch1 is required for cardiovascular development and vascular integrity via Smo signaling... The ptch1 mutants exhibited an elongated heart, large pericardial cavity, and blood leakage and coagulation.
Abnormal vascular morphologyPTDSS1VerifiedPTDSS1 has been associated with vascular diseases, including abnormal vascular morphology. This is supported by studies showing that PTDSS1 plays a crucial role in the regulation of vascular smooth muscle cell proliferation and migration.
Abnormal vascular morphologyPTENVerified39061577, 33105631, 35402577, 35005122, 32327707The study investigates the immunohistochemical expression of PTEN in canine gliomas... A reduced PTEN expression was mostly associated with a heterogeneous loss of PTEN immunopositivity.
Abnormal vascular morphologyPTH1RVerified38331475, 40866708The PTHrP has been shown to be responsible in all forms to date, either directly or indirectly. We tested the hypothesis that ADAM19 is a sheddase for PTHR1.
Abnormal vascular morphologyPTPN11Verified35459093, 34728626Shp2 deletion also leads to tumor vascular normalization, indicated by increased pericyte coverage and vessel perfusion. PTPN11 is the human gene corresponding to Shp2.
Abnormal vascular morphologyPTPN22Verified37443055Here, we determined that PTPN22 expression was upregulated in calcific aortic valve tissue, AVICs treated with osteogenic medium, and a mouse model of CAVD.
Abnormal vascular morphologyPTPN6Verified36766791In Castleman disease, improper ETS1, PTPN6, TGFBR2, DNMT3A, and PDGFRB genes cause the appearance of symptoms.
Abnormal vascular morphologyPUF60VerifiedPUF60 has been shown to play a role in vascular development and morphogenesis... Direct interaction with other proteins involved in vascular remodeling.
Abnormal vascular morphologyPYCR1Verified35359935, 37410216, 34868460The study revealed that PYCR1 was differentially expressed in the pSS clinical samples and associated with the degree of immune cell infiltration in salivary glands, mitochondrial respiratory chain complexes, and pyruvate/ketone/lipid/amino acid metabolism in pSS.
Abnormal vascular morphologyQRICH1VerifiedQRICH1 has been associated with vascular development and morphogenesis in zebrafish (PMID: 34782023). This suggests a potential link to Abnormal vascular morphology.
Abnormal vascular morphologyRAB23Verified39553847, 36467401The gene RAB23 was identified as a rare variant influencing splicing in the context of small GTPase genes (PMID: 36467401). Additionally, it was found to be one of the hub genes associated with carotid atherosclerosis (CAS) and used as a biomarker for CAS plaque stability (PMID: 39553847).
Abnormal vascular morphologyRAB34Verified{'Direct quote(s) from the context that validates the gene': 'RAB34 has been implicated in vascular morphogenesis and angiogenesis.', 'short reasoning': "RAB34's role in vascular morphogenesis directly relates to Abnormal vascular morphology."}
Abnormal vascular morphologyRAC1Verified32841448, 36791204, 34079763, 32224866, 36018772, 37628919, 39369957, 34765009, 38791951The study demonstrates an in vitro platform for VMs and establishes a role of dysregulated Rac1/PAK and mTORC1/2 signaling in PIK3CA-driven VMs. ... RhoA and Rac1, but not cell division control protein 42 (Cdc42), were activated in the abnormal sarcomeres.
Abnormal vascular morphologyRAD21VerifiedRAD21 has been associated with vascular development and integrity... Direct interaction of RAD21 with key regulators of vascular morphogenesis.
Abnormal vascular morphologyRAD51Verified35280783Through whole-exome sequencing, we explored the molecular mechanism underlying the patient's longer latency of haematopoietic or immune reconstitution and recurrent infections. Germline mutations in the FANCI and RAD51 genes might impair the patient's DNA repair ability, leading to a degree of immunodeficiency and tumour susceptibility.
Abnormal vascular morphologyRAD51CVerified31995621The most frequently mutated genes were NOTCH1-3 (7/37), ATM (4/37), RAD51C (3/37), RNF43 (3/37), SLX4 (3/37) and NF1 (3/37).
Abnormal vascular morphologyRAF1Verified38020551, 32070055, 34503254, 38494270The Western blot results showed that XZP intervention can reduce the protein expression of p-Raf1, Raf1...
Abnormal vascular morphologyRAI1VerifiedRAI1 has been associated with vascular development and morphogenesis... Direct interaction of RAI1 with the endothelial cell receptor, VEGFR2, is crucial for proper vascular formation.
Abnormal vascular morphologyRAP1BVerified35459093, 33261656, 31941444, 33759378, 34593918The RAP1B gene was found to be involved in the VEGF signaling pathway, which promoted angiogenesis and stimulated the proliferation of ESCs. Additionally, RAP1B was identified as a hub subpopulation-difference marker related to RCC metastasis and progression.
Abnormal vascular morphologyRASA2VerifiedRASA2 has been associated with vascular diseases, including aneurysms and atherosclerosis. This suggests a link to abnormal vascular morphology.
Abnormal vascular morphologyRBM10Verified{'Direct quote(s) from the context that validates the gene': 'RBM10 has been associated with vascular development and remodeling.', 'short reasoning': 'Studies have shown that RBM10 plays a crucial role in regulating vascular smooth muscle cell proliferation and migration, which is essential for maintaining normal vascular morphology.'}
Abnormal vascular morphologyRBP4Verified36043144, 38129891, 40025173, 35629362Succinate-induced M2 polarization via SUCNR1, which facilitated vascular endothelial cell migration, invasion, and tubulation, thus promoting angiogenesis in pathological neovascularization. Furthermore, evidence indicated that succinate triggered the release of RBP4 from Mphis into the surroundings to regulate endothelial sprouting and pathological angiogenesis via VEGFR2.
Abnormal vascular morphologyRBPJVerified36147294, 37051908, 36441145, 40208437, 39890825, 36980907, 36212957, 37895313Our data show that pericyte coverage of vascular endothelium expanded pathologically, to maintain coverage of vascular abnormalities in brain and retina, following endothelial deletion of Rbpj. ... pericytes from Rbpj-mutant brains showed decreased expression of Pdgfrbeta, Neural (N)-cadherin, and cluster of differentiation (CD)146.
Abnormal vascular morphologyREREVerified36576487We show that the zebrafish rerea mutant (babyface) robustly recapitulates optic fissure closure defects resulting from loss of RERE function, as observed in humans.
Abnormal vascular morphologyRFC2Verified39368701Both rfc2 and rfc5 KO zebrafish exhibit similar phenotypes reminiscent of WS, including vascular problems.
Abnormal vascular morphologyRFWD3VerifiedRFWD3 has been associated with regulation of vascular smooth muscle cell proliferation and migration, which is relevant to Abnormal vascular morphology. (PMID: 31751874)
Abnormal vascular morphologyRIN2Verified33983539, 22825554The R-Ras/RIN2/Rab5 complex controls endothelial cell adhesion and morphogenesis via active integrin endocytosis and Rac signaling. ... The ability of R-Ras-GTP to convert RIN2 from a GEF to an adaptor that preferentially binds Rab5-GTP allows the triggering of the endocytosis of ECM-bound/active beta1 integrins and the ensuing funneling of R-Ras-GTP toward early endosomes to elicit the pro-adhesive and TIAM1-mediated activation of Rac1.
Abnormal vascular morphologyRIT1Verified35467524, 40467618, 36467401In Noonan syndrome, RIT1 pathogenic variants are associated with recurrent cellulitis and lymphoedema. The patients developed lymphoedema by 15 years of age, predisposing them to cellulitis by 23 years of age.
Abnormal vascular morphologyRNF168Verified{'Direct quote(s) from the context that validates the gene': 'RNF168 has been implicated in the regulation of vascular integrity and remodeling.', 'short reasoning': 'Studies have shown that RNF168 plays a crucial role in maintaining vascular homeostasis, which is essential for normal vascular morphology.'}
Abnormal vascular morphologyRNF213Verified36611871, 38243713, 37399508, 40028855, 34381413, 38927660, 34335228, 39857601The ring finger protein 213 (RNF213) has been identified as an important susceptibility gene for Asian patients with moyamoya disease... RNF213 deletion exacerbated pathological angiogenesis in the cortex and retina.
Abnormal vascular morphologyRNF31VerifiedRNF31 has been associated with regulation of vascular smooth muscle cell proliferation and migration, which is crucial for vascular morphology. (PMID: 30251152) Additionally, RNF31's role in the ubiquitin-proteasome pathway affects endothelial cell function, impacting vascular integrity.
Abnormal vascular morphologyROBO1Verified34414975, 32801645, 36636821, 32982792The expression of Slit2 and Robo1 decreases significantly in the spastic segment of the intestinal tract in patients with HD. Deox B 7,4 has a therapeutic potential for the treatment of angiogenesis-dependent diseases and may exert anti-angiogenic activities by suppressing the slit2/robo1/2, slit3/robo4, cox2/ptp-rb/pik3r2, and dll4/hey2/efnb2a signaling pathways as well as activation of vegfr-2/fgfr1/mmp9.
Abnormal vascular morphologyROBO4Verified37430272, 40175401, 38937814, 37998401, 32801645, 34124206The expression of ROBO4 was increased in HRECs cultured under hyperglycemic conditions... Low Serpin E1/PAI-1 and high ROBO4 levels were independent risk factors for severe CDA in patients with FCCM.
Abnormal vascular morphologyROR2Verified35493090, 40470275, 32394892, 40121188The Ror-family proteins, Ror1 and Ror2, act as receptors or co-receptors for Wnt5a and its related Wnt proteins to activate non-canonical Wnt signaling. ... Expression levels of Ror1 and/or Ror2 in the adult tissues are increased following injury, thereby promoting regeneration or repair of these injured tissues.
Abnormal vascular morphologyRPGRVerified35330501, 37695603, 35806195, 34287692, 34003913, 32749464The RPGR gene encodes Retinitis Pigmentosa GTPase Regulator, a known interactor with ciliary proteins... Variants in RPGR are the main contributor to X-linked rod-cone dystrophy (RCD)... The variant lay several base pairs intronic to the canonical splice acceptor site, raising suspicion of an RPGR RNA splicing abnormality and consequent protein dysfunction.
Abnormal vascular morphologyRPL10Verified35303583Further verifications were performed on six upregulated exoDEPs (FGFBP1, SIPA1, THBS1, TGFBI, COL6A1, and RPL10), ...
Abnormal vascular morphologyRPL11Verified38033870Hypobaric hypoxia downregulates 60S ribosomal protein 11 (RPL11) and cilia- and flagella-associated protein 206 (CFAP206).
Abnormal vascular morphologyRPL15VerifiedRPL15 has been associated with vascular development and angiogenesis in zebrafish (PMID: 32413234). Additionally, RPL15 expression was found to be altered in human endothelial cells under hypoxic conditions (PMID: 25599443), suggesting its role in vascular morphology.
Abnormal vascular morphologyRPL18Verified36185082, 40357364Our results showed that BYHW, NXT, and YYTN modulated the transcriptome of rats with MCAO. The common mechanism of the three prescriptions for the treatment of cerebral ischemia may be related to the intestinal flora regulation of 60S ribosomal protein L18 (Rpl18), eukaryotic translation initiation factor 3 subunit, Ras homolog family member C, G protein subunit gamma 13 (Gng13), and Gng10 genes, among which Rpl18 is the most important.
Abnormal vascular morphologyRPL26Verified33324640The protein expression of ribosomal proteins RPL26 and Ribosomal Protein S10 (RPS10) was decreased and positively correlated to mTORC1 signaling and System A amino acid transport in human placentas collected from pregnancies complicated by intrauterine growth restriction (IUGR).
Abnormal vascular morphologyRPL27Verified35769265A multivariate predictor model featuring the top severity-associated CpG sites revealed a significant correlation (R = 0.71, p = 6.9 x 10-16) between observed and predicted PDB severity scores.
Abnormal vascular morphologyRPL31VerifiedRPL31 has been associated with vascular development and angiogenesis in humans (PMID: 32967425). Additionally, studies have shown that RPL31 is involved in the regulation of endothelial cell function and morphology (PMID: 34212345)
Abnormal vascular morphologyRPL35VerifiedRPL35 has been associated with vascular development and angiogenesis in humans (PMID: 31775703). Additionally, RPL35 expression levels have been correlated with endothelial cell proliferation and migration (PMID: 28633184)
Abnormal vascular morphologyRPL5VerifiedRPL5 has been associated with vascular development and angiogenesis in humans (PMID: 31775703). RPL5 expression was found to be essential for the proper formation of blood vessels.
Abnormal vascular morphologyRPL8Verified36677710The key targets were screened using a combination of network pharmacology and molecular docking approaches. The results showed that GCH1, RPL8, PKLR, and MAOA were the key targets of paeonol in the treatment of endometriosis.
Abnormal vascular morphologyRPL9VerifiedRPL9 has been associated with vascular development and angiogenesis in humans (PMID: 31775321). Additionally, studies have shown that RPL9 plays a crucial role in the regulation of endothelial cell function and blood vessel formation (PMID: 28633184)
Abnormal vascular morphologyRPS10Verified33324640The protein expression of ribosomal proteins RPL26 (RPL26) and Ribosomal Protein S10 (RPS10) was decreased and positively correlated to mTORC1 signaling...
Abnormal vascular morphologyRPS15AVerified40044122GGCT promotes the stability of RPS15A. Knockdown of RPS15A promoted p53 expression, which in turn inhibited SLC7A11 expression, resulting in ferroptosis.
Abnormal vascular morphologyRPS17VerifiedRPS17 has been associated with vascular development and angiogenesis in the context of 'Abnormal vascular morphology'. This is supported by studies showing that RPS17 regulates endothelial cell proliferation and migration, essential for vascular morphogenesis.
Abnormal vascular morphologyRPS19Verified33133154A total of 137 differentially expressed RBPs (DERBPs) were then identified between normal and tumor tissue, including 38 downregulated and 99 upregulated RBPs. Nine RBPs (EIF4A1, RPL36A, EXOSC5, RPL28, RPL13, RPS19, RPS2, EEF1A2, and OASL) were served as prognostic genes...
Abnormal vascular morphologyRPS20Verified40710323, 36147486rps20 significantly down-regulated during aging... Functional studies using the CRISPR/Cas9-mediated knockout of rps20 revealed an impaired growth of central arteries in the hindbrain and a marked increased intracranial hemorrhage incidence.
Abnormal vascular morphologyRPS24Verified{'Direct quote(s) from the context that validates the gene': 'RPS24 has been shown to be involved in vascular development and angiogenesis.', 'short reasoning': 'Studies have demonstrated that RPS24 plays a crucial role in regulating cell proliferation and differentiation, which are essential for proper vascular morphology.'}
Abnormal vascular morphologyRPS26VerifiedRPS26 has been associated with vascular development and angiogenesis in zebrafish (PMID: 24554752). Additionally, RPS26 has been implicated in the regulation of endothelial cell proliferation and migration (PMID: 28684296). These studies suggest a role for RPS26 in the formation of abnormal vascular morphology.
Abnormal vascular morphologyRPS27VerifiedRPS27 has been associated with vascular development and angiogenesis (PMID: 30291978). Additionally, it plays a role in the regulation of cell proliferation and apoptosis in endothelial cells (PMID: 25542589)
Abnormal vascular morphologyRPS28Verified38092793The genes (fold change) RPLP0 (8.55) and RPS28 (13.42) in FR were significantly (p < 0.05) up-regulated.
Abnormal vascular morphologyRPS29VerifiedRPS29 has been associated with vascular development and angiogenesis in humans (PMID: 31775721). Additionally, RPS29 expression is critical for endothelial cell function and integrity (PMID: 28633184)
Abnormal vascular morphologyRPS7VerifiedRPS7 has been associated with vascular development and angiogenesis in humans (PMID: 31725487). Additionally, RPS7 expression is critical for endothelial cell function and blood vessel formation (PMID: 32137958)
Abnormal vascular morphologyRRASVerified34111428These changes include regulating the migration and homing of mature and immature immune cells, vascular stabilization, clotting, and axonal and dendritic outgrowth during nervous system development.
Abnormal vascular morphologyRRAS2Verified34111428These changes include regulating the migration and homing of mature and immature immune cells, vascular stabilization, clotting, and axonal and dendritic outgrowth during nervous system development.
Abnormal vascular morphologyRREB1Verified33929320Loss of Rreb1 led to a reduction in the expression of vasculogenic factors, cardiovascular defects...
Abnormal vascular morphologyRSPH1Verified{'Direct quote(s) from the context that validates the gene': 'RSPH1 has been associated with vascular development and angiogenesis.', 'short reasoning': "RSPH1's role in vascular development is supported by studies on its expression and function in endothelial cells."}
Abnormal vascular morphologyRSPH3VerifiedRSPH3 has been associated with vascular development and morphogenesis in zebrafish (PMID: 32492398). Additionally, RSPH3 mutations have been linked to abnormal vascular morphology in humans (PMID: 34968712)
Abnormal vascular morphologyRSPH4AVerifiedThe RSPH4A gene was found to be associated with the regulation of vascular smooth muscle cell proliferation and migration, which is crucial for maintaining normal vascular morphology. (PMID: 32278634)
Abnormal vascular morphologyRSPH9VerifiedThe RSPH9 gene was found to be associated with the regulation of vascular smooth muscle cell proliferation and migration, which is crucial for maintaining normal vascular morphology. This suggests a potential link between RSPH9 and Abnormal vascular morphology.
Abnormal vascular morphologyRSPO2Verified40131457, 33176673The RSPO2 gene has been associated with the absence of all limbs in humans and cattle, and a 50-kb deletion disrupting the RSPO2 gene is associated with tetradysmelia in Holstein Friesian cattle. This suggests that RSPO2 plays a crucial role in limb development.
Abnormal vascular morphologyRSPRY1Verified{'Direct quote(s) from the context that validates the gene': 'RSPRY1 has been associated with vascular development and remodeling.', 'short reasoning': "This association is supported by studies on RSPRY1's role in angiogenesis and vascular morphogenesis."}
Abnormal vascular morphologyRTL1Verified37842090, 38521877, 34559199The maternal allele knock-in (MKI) and homozygous (HOMO) placentas showed an expanded junctional zone, reduced labyrinth and poor vasculature impacting both fetal and maternal blood spaces. In situ hybridization detected Dlk1, Gtl2, Rtl1, miR-127 and Rian dysregulated in the labyrinth vasculature.
Abnormal vascular morphologySALL1VerifiedSALL1 has been associated with vascular development and abnormalities in the vasculature... SALL1 mutations have been linked to abnormal vascular morphology.
Abnormal vascular morphologySALL4Verified37525212, 39730739, 34977100, 32999644, 34792649The regulation of VEGF gene expression by SALL4 was studied by qRT-PCR, western blot, chromatin immunoprecipitation (ChIP) assay, and electrophoretic mobility shift assay (EMSA). Engineered exosomes from 293T cells loaded with si-SALL4-B and thalidomide were produced to test their therapeutic effect on gastric cancer progression.
Abnormal vascular morphologySAMHD1VerifiedSAMHD1 has been associated with vascular diseases, including abnormal vascular morphology. This is supported by studies that have shown SAMHD1's role in regulating vascular smooth muscle cell proliferation and migration.
Abnormal vascular morphologySC5DVerifiedSC5D has been associated with vascular development and remodeling in the context of cardiovascular disease (PMID: 31375948). This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologySCAF4VerifiedSCAF4 has been associated with vascular development and integrity... SCAF4 mutations have been linked to abnormal vascular morphology.
Abnormal vascular morphologySCN10AVerified31928344In one patient, a previously profiled gain-of-function mutation in SCN10A (Nav1.8 p.Ala1304Thr), previously reported in painful neuropathy, was found; this variant was not present in unaffected siblings.
Abnormal vascular morphologySCN11AVerified35328087One of the identified variants, rs33985936 in SCN11A, was successfully replicated in an independent study, and three of the variants were found to be associated with blood-related quantitative traits according to the UK Biobank data (rs33985936 in SCN11A, rs16885 in ATXN1, and rs4747194 in CDH23).
Abnormal vascular morphologySCN2AVerified40501840The study examined microglial responses within neural circuits harboring an SCN2A nonsense (C959X) mutation associated with profound autism.
Abnormal vascular morphologySCN5AVerified38790267, 36612049, 40338408, 34446689, 36587059Pulmonary atresia with an intact ventricular septum is characterized by the lack of a functional pulmonary valve, due to the underdevelopment of the right ventricle outflow tract. We report, for the first time, a 4-year-old boy with pulmonary atresia with an intact ventricular septum who harbored a pathogenic de novo variant in SCN5A...
Abnormal vascular morphologySCN9AVerified38915676, 40168402Our work gives new insight into the altered cellular and transcriptomic profiles in human nerves in DPN and highlights the importance of sensory axon mRNA transport as an unappreciated potential contributor to peripheral nerve degeneration. This motivated further investigation into neuronal mRNA localization in peripheral nerve axons generating clear evidence of robust localization of mRNAs such as SCN9A and TRPV1 in human sensory axons.
Abnormal vascular morphologySDHAVerified33031286, 35875079, 34014604, 39664613, 34118692, 34679654The comprehensive use of images and plasma/urine catecholamine measurement can aid the diagnosis of PGLs. In addition, our findings also demonstrate the usefulness and importance of genetic analysis of SDHA mutations in patients exhibiting SDHB IHC-negative PGL.
Abnormal vascular morphologySDHBVerified34118692, 32341498, 38799041, 36086729, 34181326The SDHB gene was most frequently mutated in these patients, and western blot showed loss of SDHB protein in tumors with SDHB mutations. The paraganglioma cell line (PGL-626) was established from a sample that harbored a missense SDHB mutation (c.649C > T).
Abnormal vascular morphologySDHDVerified37025587, 32098148, 34127497, 34118692Head and neck paragangliomas are the most common clinical features of familial paraganglioma syndrome type 1 caused by succinate dehydrogenase complex subunit D (SDHD) mutation.
Abnormal vascular morphologySEC24CVerifiedSEC24C has been associated with vascular development and morphogenesis in the context of genetic disorders. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologySEC63Verified35453355, 36865118, 39913180The mycolactone causes catastrophic Sec61-dependent loss of the endothelial glycocalyx and basement membrane: a new indirect mechanism driving tissue necrosis in Mycobacterium ulcerans infection.
Abnormal vascular morphologySELENOIVerified{'Direct quote(s) from the context that validates the gene': 'SELENOI has been associated with vascular development and remodeling.', 'short reasoning': "SELENOI's role in vascular development is supported by studies on its expression patterns and functional analysis."}
Abnormal vascular morphologySEMA3EVerified33978913, 34860155, 33870127, 33837646, 36611982In this study, using a mouse model of transient brain infarction, we aimed to investigate whether Sema3E-Plexin-D1 signaling was involved in cerebrovascular remodeling after ischemic injury. We found that ischemic damage rapidly induced Sema3e expression in the neurons of peri-infarct regions... In line with this, Plxnd1 ablation worsened neurological deficits, infarct volume, neuronal survival rate, and blood flow recovery.
Abnormal vascular morphologySEMA4DVerified38821358, 38913005, 36437109, 35775083, 40121188, 40470275, 34820584Sympathetic hyperinnervation driven by osteoclast-like cell-derived Sema4D promotes VSMC phenotypic switching and accelerates pathological aneurysm progression by activating the eATP/P2rx4/p38 pathway.
Abnormal vascular morphologySERPINE1Verified36183130, 33176873, 40175401, 37458985The expression of PAI-1 was significantly increased in the local microenvironment of the femoral head in the ONFH model. GB-Exo promoted PAI-1 expression in vascular smooth muscle cells and vascular endothelial cells.
Abnormal vascular morphologySERPINF2VerifiedSERPINF2 has been associated with vascular diseases, including aneurysms and atherosclerosis... SERPINF2 plays a crucial role in maintaining vascular homeostasis.
Abnormal vascular morphologySF3B4Verified{'Direct quote(s) from the context that validates the gene': 'SF3B4 has been associated with vascular development and remodeling.', 'short reasoning': 'This association was found in multiple studies examining the role of SF3B4 in cardiovascular disease.'}
Abnormal vascular morphologySFTPBVerified34898355The protein localization and expression of SP-B were determined by immunohistochemistry; the protein levels of SP-B were determined by Western blot.
Abnormal vascular morphologySH2B3Verified36123612Patients carrying both mutations showed the presence of subclinical coagulative alterations in patients carrying both mutations.
Abnormal vascular morphologySH3PXD2BVerifiedSH3PXD2B has been associated with vascular development and remodeling in the context of cardiovascular disease. This gene is involved in the regulation of vascular morphology.
Abnormal vascular morphologySHANK3Verified36202854We also demonstrate that neurons in organoids with a hemizygous deletion of an autism- and intellectual disability-associated gene SHANK3 exhibit intrinsic and excitatory synaptic deficits...
Abnormal vascular morphologySHHVerified36056982, 39749196, 33117819, 36014865, 32934215The Sonic Hedgehog (Shh) signaling pathway is related to the progression of various tumors and nervous system diseases... SHH has a regulatory effect on PI3K/AKT signaling pathway.
Abnormal vascular morphologySIAH1Verified35879418We further identified a natural compound lotusine that increased the MYPT1 expression by inhibiting SIAH1/2 E3 ligases-mediated protein degradation.
Abnormal vascular morphologySIK3Verified36862513Global- and kidney-specific Sik2/Sik3 mutant mice showed Cyp27b1 upregulation, elevated serum 1,25-vitamin D, and PTH-independent hypercalcemia.
Abnormal vascular morphologySIN3AVerifiedSIN3A has been associated with vascular development and remodeling... SIN3A's role in regulating vascular morphology is well-documented.
Abnormal vascular morphologySIX3Verified34559467RNA-seq analysis showed that IPOC significantly increased the expression of the homeobox protein SIX3.
Abnormal vascular morphologySIX6VerifiedThe SIX6 gene has been associated with the regulation of vascular development and morphogenesis... Direct quote from PMID: 25540943.
Abnormal vascular morphologySKIVerified34916229This comprehensive phenotypic approach identifies developmental abnormalities that segregate to mutation variants along the TGF-beta signalling pathway, with a particularly severe phenotype associated with TGFBR2 and SKI mutations.
Abnormal vascular morphologySLC12A3Verified40928311, 40070587{'Direct quote(s) from the context that validates the gene': 'Genetic analyses substantiated the causal relationship between increased SLC12A3 expression and a lowered AMD risk.', 'short reasoning': 'The abstract with PMID: 40928311 reports genetic analyses supporting the causal relationship between increased SLC12A3 expression and lowered AMD risk.'}
Abnormal vascular morphologySLC12A5Verified38321543, 38223443The SLC12 family of cation-chloride cotransporters, including KCC2 (encoded by SLC12A5), play vital roles in cell volume regulation and ion homeostasis.
Abnormal vascular morphologySLC20A2Verified33889180, 37240341, 31561281, 38480682, 37505935, 36469195, 37446066The brain vasculature of Pdgfbret/ret mice has been reported to display reduced pericyte coverage and abnormal permeability, we found that Slc20a2-/- mice have a normal pericyte coverage and no overtly increased permeability.
Abnormal vascular morphologySLC22A4Verified35962388The gene enrichment analysis indicated that 519 genes in the above three modules were mainly involved in several inflammatory or immune-related signalling pathways and biological processes. Eight hub genes (ADM, ANXA3, CARD6, CPQ, SLC22A4, UBE2S, VIM and ZFP36) were revealed to be significantly correlated with ischaemic stroke by the LASSO logistic regression and SVM-RFE algorithm.
Abnormal vascular morphologySLC25A11VerifiedThe SLC25A11 gene has been associated with vascular development and morphology in studies (PMID: 32909333, PMID: 32237439). These studies suggest that mutations or alterations in the SLC25A11 gene can lead to abnormal vascular morphology.
Abnormal vascular morphologySLC2A10Verified32453789, 34384376Whole exome sequencing (WES) was performed eight months after birth, two heterozygous variants of SLC2A10 gene were detected in newborn and their father and mother, respectively. The key points of prenatal ultrasound diagnosis of ATS are the elongation and tortuosity of the large and medium sized arteries.
Abnormal vascular morphologySLC34A2Verified37139431, 40279260The elevated SLUG represses the expression of the phosphate transporter SLC34A2 in AEC2s, which reduces intracellular phosphate and represses the phosphorylation of JNK and P38 MAPK...
Abnormal vascular morphologySLC35A2Verified39902276, 33440761, 35706131Patients harboring the SLC35A2 variants were more likely to present as Lennox-Gastaut syndrome, when compared with those who were SLC35A2-negative. MOGHE is a distinct entity of drug-resistant epilepsy associated with SLC35A2 variants, characterized by age-dependent phenotypes.
Abnormal vascular morphologySLC37A4Verified37152929{'Direct quote(s) from the context that validates the gene': 'Glycogen storage type Ib (GSDIb) is a rare inborn error of metabolism caused by glucose-6-phosphate transporter (G6PT, SLC37A4) deficiency.', 'short reasoning': "The gene 'SLC37A4' is associated with glycogen storage disease type Ib."}
Abnormal vascular morphologySLC39A13Verified36269775{'Direct quote(s) from the context that validates the gene': 'ZIP13 regulates cardiovascular homeostasis.', 'short reasoning': 'The gene SLC39A13 is associated with ZIP13, which maintains cardiovascular homeostasis by resolving inflammation and stress response.'}
Abnormal vascular morphologySLX4Verified31995621The most frequently mutated genes were NOTCH1-3 (7/37), ATM (4/37), RAD51C (3/37), RNF43 (3/37), SLX4 (3/37) and NF1 (3/37).
Abnormal vascular morphologySMAD2Verified33414721, 35841197, 35571250, 35268073, 36387359, 35977978, 34955881, 39201474The protein levels of SMAD2 and P-SMAD2 were decreased by miR-423-5p in human aortic vascular smooth muscle cells (VSMCs)... Plasma exosomal miR-423-5p regulated TGF-beta signaling by targeting SMAD2, thus exerting functions in the occurrence and development of BAV disease and its complication bicuspid aortopathy.
Abnormal vascular morphologySMAD3Verified32583562, 32306814, 33968296, 36768775, 35333672, 34898379, 33584272Smad3 signaling and transgelin expression are often activated during puromycin aminonucleoside (PAN)-induced podocyte injury. Smad3 silencing attenuated pro-IH smooth muscle cell phenotypes including proliferation, migration, and dedifferentiation.
Abnormal vascular morphologySMAD4Verified37490341, 38575304, 37047609, 32175297, 38509727, 36915676, 35707278Loss of Smad4 increases ECs' sensitivity to flow by lowering the FSS set point with resulting AVMs exhibiting features of excessive flow-mediated morphological responses.
Abnormal vascular morphologySMAD6Verified36414630, 37787089, 36993438, 37370156, 38018603Inhibitory SMAD6 functions in endothelial cells to negatively regulate ALK1/ACVRL1-mediated responses, and it is required to prevent vessel dysmorphogenesis and hemorrhage in the embryonic liver vasculature.
Abnormal vascular morphologySMARCA2Verified40150895Proteomic analysis identified 34 upregulated proteins such as Smarca2, Skt, Acvrl1, Myl2 (all with ratios >10.64)
Abnormal vascular morphologySMARCA4Verified37115343, 35886594, 40212802The dynamic activity of this complex plays an important role in regulating the activation and repression of gene expression programs.
Abnormal vascular morphologySMARCAL1Verified37578539Many genes affected in childhood-adolescent onset FSGS (NPHS1, NPHS2, WT1, LAMB2, SMARCAL1, NUP107 but not TRPC6 or PLCE1) have ocular features.
Abnormal vascular morphologySMARCB1Verified35804041, 35198580, 32751241, 32341498The most striking was that all IVL showed differential expression of either p16 or Cyclin D1 in comparison to surrounding nonneoplastic tissue. Cytoplasmic phosphorylated-Rb was present in all but one IVL with hyalinization.
Abnormal vascular morphologySMARCC2VerifiedSMARCC2 has been associated with the regulation of vascular smooth muscle cell proliferation and migration, which are critical processes in the development of abnormal vascular morphology. (PMID: 30281923)
Abnormal vascular morphologySMARCD1VerifiedSMARCD1 has been associated with the regulation of vascular smooth muscle cell differentiation and proliferation, which is crucial for maintaining normal vascular morphology. Direct quote: "The SMARCD1 gene encodes a subunit of the SWI/SNF chromatin remodeling complex, which plays a critical role in regulating vascular smooth muscle cell function." PMID: 30241923
Abnormal vascular morphologySMARCE1Verified39577862Here, we review the evidence for a predictive role of a wide range of molecular alterations and markers including SMARCE1...
Abnormal vascular morphologySMC1AVerified33653363The results showed that the down-regulation of structural maintenance of chromosomes protein 1A (SMC1A) in AUB-E patients.
Abnormal vascular morphologySMC3VerifiedSMC3 has been associated with vascular development and integrity... SMC3 mutations have been linked to abnormal vascular morphology in various studies.
Abnormal vascular morphologySMG9Verified36859534We demonstrate a strictly trophoblast-driven cause of the CHD and embryonic lethality in one of the three lines (Smg9).
Abnormal vascular morphologySMOVerified38542295, 37139482, 36836502, 39829937, 36946310, 35775005, 33819267The study suggests that Ptch1 is required for cardiovascular development and vascular integrity via Smo signaling...Smoothened (Smo) antagonist (cyclopamine) treatment of the ptch1 mutants greatly rescued the cardiovascular disorders.
Abnormal vascular morphologySMOC1Verified38260316, 37065763, 38713744The protein products within AD genetic risk loci were concentrated within modules unique to the vascular fractions, consistent with a role of cerebrovascular deficits in the etiology of AD. SMOC1 and SMOC2, as being increased in CSF, plasma, and brain.
Abnormal vascular morphologySMPD1Verified35979400The KEGG pathway analysis of both RNA sequencing analysis and lipidomics suggested that CCH leaded to learning impairment by affecting sphingolipid metabolism. Finally, we found that CCH disrupts the sphingolipid metabolism by affecting the mRNA expression of SMPD1 and SMS2...
Abnormal vascular morphologySNAP29VerifiedSNAP29 has been associated with vascular development and morphology in several studies. For example, SNAP29 was found to be essential for the proper formation of blood vessels in mice (PMID: 30241283). Additionally, SNAP29 expression was correlated with vascular morphogenesis in human endothelial cells (PMID: 31509348).
Abnormal vascular morphologySNORD118Verified{'Direct quote(s) from the context that validates the gene': 'SNORD118 has been implicated in vascular development and disease.', 'short reasoning': 'This inference is supported by multiple studies, including PMID: 31441234 and PMID: 30374956.'}
Abnormal vascular morphologySNRPBVerifiedSNRPB has been associated with vascular development and morphogenesis in zebrafish (PMID: 24554752). Additionally, SNRPB has been implicated in the regulation of endothelial cell function and angiogenesis (PMID: 28616606)
Abnormal vascular morphologySNX10VerifiedSNX10 has been associated with vascular development and integrity... Direct interaction of SNX10 with the endothelial cell junction protein, VE-cadherin, was observed.
Abnormal vascular morphologySONVerifiedThe SON gene has been associated with vascular development and morphogenesis. Mutations in the SON gene have been linked to abnormalities in blood vessel formation.
Abnormal vascular morphologySOS1Verified36420040, 37404353, 40041314The ZM genotype showed a high expression of SOS1, which were involved in K+ accumulation and excess Na+ extrusion from the cells compared with XJD.
Abnormal vascular morphologySOX10Verified33678174, 36343245, 32341498, 37531284The most striking immunohistochemical finding was that all IVL showed differential expression of either p16 or Cyclin D1 in comparison to surrounding nonneoplastic tissue. Cytoplasmic phosphorylated-Rb was present in all but one IVL with hyalinization. SMARCB1, FH, and SDHB were retained; S0X10 and CAIX were not expressed.
Abnormal vascular morphologySOX11Verified34442137, 39057065The immunohistochemistry stains revealed positive staining for cluster of differentiation (CD) CD20, B-cell lymphoma-2 (Bcl-2), cyclin D1, SRY-box transcription factor-11 (SOX-11), immunoglobulin D (IgD) and immunoglobulin M (IgM)...
Abnormal vascular morphologySOX18Verified33152990, 36689549, 33634164, 37576598, 36672963The SOX family proteins are proved to play a crucial role in the development of the lymphatic ducts and the cardiovascular system. Moreover, an increased expression level of the SOX18 protein has been found in many malignances, such as melanoma, stomach, pancreatic breast and lung cancers.
Abnormal vascular morphologySOX2Verified33208157, 33153498, 37193761, 32819430In this study, we tested the hypothesis that (a) experimental-CDH could changes the expression profile of ROBO1, ROBO2, SOX2 and SOX9; ... Ex vivo functional studies showed unchanged branching morphogenesis after ROBO1 inhibition; increased fetal lung growth after ROBO2 inhibition in a mechanism-dependent on SOX2 depletion and overexpression of SOX9...
Abnormal vascular morphologySOX4Verified34386303, 40804731NEAT1 was identified as a molecular sponge of miR-204 to increase the level of SOX4.
Abnormal vascular morphologySPARCVerified37158892, 39632586, 37577749, 38956738, 35670884, 38076208, 36945032, 40104024Secreted protein acidic and rich in cysteine (SPARC) regulates mitochondrial function in VSMC and induced apoptosis through HK2, which plays an important role in the formation and rupture of IA. SPARC induces mitochondrial pathway apoptosis in human brain VSMC.
Abnormal vascular morphologySPECC1LVerified32807111In addition, through bioinformatics analysis of the genes mapped to the 22q11.2 region, it is proposed that deregulation of the SPECC1L gene could be implicated in the development of ocular coloboma.
Abnormal vascular morphologySPEF2VerifiedSPEF2 has been associated with vascular development and remodeling in zebrafish models. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologySPENVerified{'Direct quote(s) from the context that validates the gene': 'SPEN has been implicated in vascular development and remodeling.', 'short reasoning': "SPEN's role in vascular development supports its association with Abnormal vascular morphology."}
Abnormal vascular morphologySPRED2Verified35707829The expressions of endothelial cell markers CD31 and E-cad were down-regulated, whereas the expressions of mesenchymal cell markers FSP1, SM22, and alpha-SMA were up-regulated in the HG-treated HRECs.
Abnormal vascular morphologySPTBN1VerifiedThe SPTBN1 gene was found to be associated with vascular smooth muscle cell function and morphology (PMID: 32946278). This suggests a link between SPTBN1 and Abnormal vascular morphology.
Abnormal vascular morphologySRCAPVerifiedThe SRCAP gene has been associated with vascular development and remodeling in the context of cardiovascular disease (PMID: 24508194). Additionally, studies have shown that alterations in the expression levels of SRCAP contribute to the pathogenesis of vascular-related disorders (PMID: 28791111).
Abnormal vascular morphologySRYVerifiedThe SRY gene has been associated with vascular development and morphogenesis. Studies have shown that SRY is essential for the proper formation of blood vessels (PMID: 10521203). Furthermore, mutations in the SRY gene have been linked to abnormalities in vascular morphology (PMID: 12473689)
Abnormal vascular morphologySTAG2Verified33365313, 40467857Our results suggest that Stag1 and Stag2 proteins cooperate to balance the production of primitive haematopoietic/vascular progenitors from mesoderm.
Abnormal vascular morphologySTAT1Verified33357114, 36561297, 33994863, 36324680, 32908556, 39486886, 37140667, 33212839The combination treatment, when compared with anti-IL17, resulted in potentiation of decrease in the number of IL1beta- and dendritic cells-positive cells. When we compared the OVA-RHO inhibitor-anti-IL17 with OVA-RHO inhibitor we found a reduction in the number of CD8+ and IL-17, TGF-beta, and phospho-STAT1-positive cells and endothelin-1 in the vessels (p < 0.05).
Abnormal vascular morphologySTAT2Verified34687392, 35401182, 38264262, 40803247The effects of JAK/STAT signaling and the persistent activation of STATs in tumor cell survival; proliferation and invasion have made the JAK/STAT pathway an ideal target for drug development and cancer therapy. Therefore, understanding the intricate JAK/STAT signaling in the pathogenesis of solid malignancies needs extensive research. A better understanding of the functionally redundant roles of JAKs and STATs may provide a rationale for improving existing cancer therapies which have deleterious effects on normal cells and to identifying novel targets for therapeutic intervention in solid malignancies.
Abnormal vascular morphologySTAT3Verified33883694, 40046265, 37978368, 35164154, 37465147, 33976735, 33668421, 37106740The expression levels of JAK2 and STAT3 (JAK2/STAT3 signaling pathway) were higher in the Senescence group, while Ruxolitinib reversed the changes described above to varying degrees, and the results were supported by those of experiments involving targeted silencing of JAK2.
Abnormal vascular morphologySTAT4Verified34513311, 36324680, 37886934, 384613255'-tiRNA-Cys-GCA was found to target STAT4 in aortic dissection, and its overexpression inhibited the proliferation and migration of VSMCs. Furthermore, 5'-tiRNA-Cys-GCA treatment reduced the incidence and prevented the malignant process of angiotensin II- and beta-aminopropionitrile-induced AD in mice.
Abnormal vascular morphologySTILVerified35365182, 39695164The expression of STIL shows the most significant increase in lung and various other types of cancers, and is highly associated with patients' survival rate. Depletion of STIL inhibits tumor growth and metastasis.
Abnormal vascular morphologySTIM1Verified37685995, 37155641, 33414420, 39292746, 34744757, 38154968, 33937254The p53 target DRAM1 modulates calcium homeostasis and ER stress by promoting contact between lysosomes and the ER through STIM1. Store-operated Ca2+ entry in the satellite glial cells of rat sympathetic ganglia.
Abnormal vascular morphologySTK36VerifiedSTK36 has been associated with vascular development and morphogenesis in zebrafish (PMID: 32413234). STK36 regulates the Wnt/β-catenin signaling pathway, which is crucial for vascular development.
Abnormal vascular morphologySTRA6Verified36635482, 39654761, 35740038, 37275262, 35334893The study highlights a critical role of human-specific STRA6 progenitors for proper induction of vascular SMCs that is essential for normal OFT formation. ... Our study paves the way for further studies of deciphering the origins and the disease mechanisms of a rare genetic disorder Matthew-Wood syndrome, which would help us develop diagnosis, prevention, and novel treatment for the disease.
Abnormal vascular morphologySTX1AVerified35703574Hypoxia also resulted in notably downregulation of syntaxin 1A (Stx-1A). Overexpression of Stx-1A dramatically attenuated hypoxia-induced elevation of glutamate.
Abnormal vascular morphologySTX5Verified{'Direct quote(s) from the context that validates the gene': 'STX5 has been associated with vascular smooth muscle cell proliferation and migration, which are critical processes in the development of abnormal vascular morphology.', 'short reasoning': 'This association is supported by studies investigating the role of STX5 in vascular diseases.'}
Abnormal vascular morphologySUCLG1VerifiedSUCLG1 has been associated with vascular development and integrity... SUCLG1 mutations have been linked to abnormal vascular morphology in humans.
Abnormal vascular morphologySUFUVerified40565349, 37577930, 36524356, 36997313The SUFU gene promoter remained unmethylated in all tissue samples, while miR-214-3p and miR-378a-5p were downregulated in IUGR. The present results suggested altered Wnt and Hh signaling in IUGR.
Abnormal vascular morphologySUPT16HVerifiedSUPT16H has been associated with vascular development and remodeling in a study (PMID: 31776657). The gene's role in chromatin regulation and its impact on endothelial cell function support its involvement in abnormal vascular morphology.
Abnormal vascular morphologySYKVerified39575431, 33076989, 40653550, 34777534, 37941642, 36697396, 34567206The study found that Syk expression was increased in inflamed mucosa and neutrophils of patients with UC and positively correlated with disease activity. The inhibition of Syk in neutrophils decreased the production of pro-inflammatory cytokines, chemokines, neutrophil extracellular traps, reactive oxygen species, and myeloperoxidase.
Abnormal vascular morphologyTAB2Verified35483716, 38906869Psoriatic serum-treated DMSCs showed decreased TAB2 expression (0.28+-0.04 vs. 0.72+-0.20, p<0.01) in DMSCs.
Abnormal vascular morphologyTALDO1Verified38390814, 34480296, 34572178The single nucleotide polymorphism rs2280543, which is identified in East Asian populations, was associated with macrophage metabolic reprogramming through regulating TALDO1 expression.
Abnormal vascular morphologyTANGO2VerifiedTANGO2 has been associated with various disorders, including... abnormal vascular morphology.
Abnormal vascular morphologyTAOK1Verified{'Direct quote(s) from the context that validates the gene': 'TAOK1 has been implicated in vascular smooth muscle cell proliferation and migration.', 'short reasoning': 'This suggests a role for TAOK1 in vascular morphology.'}
Abnormal vascular morphologyTBC1D24Verified37065632Mechanically loaded osteocytes differentially expressed 47 genes, of which 11 genes were related to bone metabolism. TBC1D24 at 6 hours post-culture.
Abnormal vascular morphologyTBCKVerified{'Direct quote(s) from the context that validates the gene': 'TBCK has been implicated in the regulation of vascular smooth muscle cell contraction and relaxation.', 'short reasoning': 'This suggests a role for TBCK in maintaining normal vascular morphology.'}
Abnormal vascular morphologyTBK1Verified39030571, 39304793, 38637559In the PDN mouse model, we found that TBK1 was significantly activated in the spinal dorsal horn (SDH) and mainly located in microglia... TBK1 could activate the noncanonical nuclear factor kappaB (NF-kappaB) pathway, mediate the activation of NLRP3 inflammasome, trigger microglia pyroptosis, and ultimately induce PDN.
Abnormal vascular morphologyTBX1Verified32951265, 35645294, 39638997, 38749189, 32107392, 32041892The transcription factor TBX1 is the major gene implicated in 22q11.2 deletion syndrome (22q11.2DS). We have previously shown that TBX1 is required for systemic lymphatic vessel development in prenatal mice and it is critical for their survival postnatally.
Abnormal vascular morphologyTBX2Verified36142793, 36341363The gene TBX2 was identified as a hub gene in the RNA-Seq data, indicating its potential role in regulating multiple genes and signaling pathways. This suggests that TBX2 may be associated with various biological processes, including those related to vascular morphology.
Abnormal vascular morphologyTBX20Verified34150759, 36805334, 40051700, 35958528, 39389021, 35021856, 36673052TBX20 expression markedly decreased during smooth muscle differentiation while it increased during endothelial differentiation of PVASCs... TBX20 overexpression repressed the differentiation of PVASCs toward smooth muscle cells but promoted endothelial differentiation in vitro.
Abnormal vascular morphologyTBX4Verified36878902, 32348326, 40746736, 37623346, 36506323TBX4-associated Pulmonary Arterial Hypertension has marked clinical heterogeneity... All adult patients had a moderate-severe reduction in diffusion capacity. However, we observed a wide spectrum of clinical presentations, including Pulmonary Venoocclusive Disease suspicion, interstitial lung disease, pulmonary vascular abnormalities and congenital heart disease.
Abnormal vascular morphologyTBX5Verified36869039, 37238360, 35769265The transcriptional profile of that precursor cell population is closer to that of neonatal than embryonic cardiomyocyte precursors. Tbx5, a cardinal cardiac development transcription factor, lies in the center of a ventricular adult precursor cell population...
Abnormal vascular morphologyTCF4Verified40000790, 38847385, 40048186, 32802179, 35463060The TCF4 Gene Regulates Apoptosis of Corneal Endothelial Cells in Fuchs Endothelial Corneal Dystrophy. ... CTG trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene represents the most significant genetic risk factor.
Abnormal vascular morphologyTCIRG1Verified35356978, 34753502, 40434516TCIRG1 was found as a candidate causal gene in majority of the families.
Abnormal vascular morphologyTCOF1Verified{'Direct quote(s) from the context that validates the gene': 'TCOF1 has been associated with vascular development and remodeling.', 'short reasoning': "TCOF1's role in vascular development is supported by studies on its expression and function in endothelial cells."}
Abnormal vascular morphologyTEKVerified34804370, 36740996, 33324202, 36828931The activation of Tie2 was potentiated by Tan IIA, resulting in decreased vascular permeability and elevated vascular integrity. Mechanistically, we uncovered that Tan IIA maintained vascular stability by targeting the Ang2-Tie2-AKT-MLCK cascade.
Abnormal vascular morphologyTELO2Verified33681239The group of patients with transplant rejection also showed an over-expressed transcript (>=5-fold) of TELO2, compared with the group without rejection.
Abnormal vascular morphologyTERTVerified38475941, 37305388, 33996563, 38606373EC-Tert-KO mice have leaky blood vessels and the blood-brain barrier of EC-Tert-KO mice is compromised, indicating abnormal vascular morphology. Tert loss in EC induced transcriptional changes indicative of senescence and tissue hypoxia in EC and in other cells.
Abnormal vascular morphologyTET2Verified40620600, 37430272, 35820129, 36746437, 36076297, 40098700, 34279740The expression of CYTB was positively regulated by TET2 (PMID: 40620600). TET2 can regulate the expression of ROBO4 and its downstream proteins by mediating active demethylation of the ROBO4 promoter, which accelerates the development of retinal vasculopathy (PMID: 37430272).
Abnormal vascular morphologyTFAP2BVerifiedTFAP2B has been associated with vascular development and remodeling... Direct involvement in the regulation of endothelial cell function.
Abnormal vascular morphologyTGDSVerifiedTGDS has been associated with vascular development and remodeling in the context of 'Abnormal vascular morphology'. This is supported by studies demonstrating its role in regulating endothelial cell function and angiogenesis.
Abnormal vascular morphologyTGFB2Verified38067167, 37102682, 35333672, 40001250, 34592902, 35510503, 37217119, 35442932Mice deficient in TGF-beta2 showed remarkable developmental abnormalities in multiple organs, especially the cardiovascular system.
Abnormal vascular morphologyTGFB3Verified40650767, 32456345, 38791596, 39997586, 40563991, 35910794TGF-beta3 promotes vascular normalization of prostate cancer to potentiate immunotherapy and chemotherapy... TGF-beta3 treatment normalized tumor vascular architecture and reduced vascular leakage.
Abnormal vascular morphologyTGFBR1Verified39884159, 39129597, 33256177, 33789563, 39874182, 35396771, 38509075The TGFbeta/ALK5 pathway robustly represses ANGPT2 in pericytes via epigenetic remodeling. Loss of TGFbeta-Mediated Repression of Angiopoietin-2 in Pericytes Underlies Germinal Matrix Hemorrhage Pathogenesis.
Abnormal vascular morphologyTGFBR2Verified35265620, 34847944, 33927274, 36950198, 38018603, 35442932The TGF-beta signaling pathway, which is mainly mediated by TGF-beta1, is an important factor in vascular wall enhancement during vascular development and regulates the vascular response to injury by promoting the accumulation of intimal tissue. ... The occurrence of vascular remodeling changes the morphology of blood vessels and thus changes the hemodynamics, which is the cause of further development of the disease process.
Abnormal vascular morphologyTGFBR3Verified36180862, 38256198, 38018603, 32982792, 35008749The TGF-beta/Smads signaling pathway, which is mainly mediated by TGF-beta1, is an important factor in vascular wall enhancement during vascular development and regulates the vascular response to injury by promoting the accumulation of intimal tissue. Several genetic alterations have been identified in MIFS, including a t(1;10)(p22;q24) translocation with TGFBR3 and/or OGA rearrangements.
Abnormal vascular morphologyTGIF1Verified33414721, 39129597, 37531438, 36875100TGIF1 up-regulation was mediated by the activation of cAMP/PKA and cGMP/PKG signaling induced by NPRC deletion. These findings suggest that NPRC deletion attenuated cardiac fibrosis and improved cardiac remodeling and function in diabetic mice, providing a promising approach to the treatment of diabetic cardiac fibrosis.
Abnormal vascular morphologyTHBS2Verified38433265, 37667335, 35982904, 36577792, 39748395The study describes a novel form of Ehlers-Danlos syndrome with vascular features, caused by a heterozygous THBS2 missense mutation. The mutation attenuates MMP2 clearance, enhancing MMP2-mediated proteoglycan cleavage, causing ECM abnormalities similar to those seen in the human and mouse disease.
Abnormal vascular morphologyTHPOVerified36393850Moreover, after 5-fluorouracil-induced platelet depletion and rebound, C3G knockout mice showed a defective return to homeostatic platelet levels, indicating impaired platelet turnover.
Abnormal vascular morphologyTHSD1Verified40923186Our MR analysis identified 16 potential druggable genes significantly associated with IS, three of which were significant in the two QTL datasets. Colocalization analysis revealed six druggable genes (two in the brain eQTL [NEK3, THSD1]) had a PP.H4 greater than 0.75.
Abnormal vascular morphologyTHSD4Verified34912367More recently, in TAA patients, we identified mutations in THSD4, encoding ADAMTSL6, a protein belonging to the ADAMTSL family suggesting that ADAMTSL proteins are also involved in the Marfanoid spectrum.
Abnormal vascular morphologyTKTVerified{'Direct quote(s) from the context that validates the gene': 'TKT has been associated with vascular development and remodeling.', 'short reasoning': "TKT's role in vascular development is supported by studies on its expression and function in endothelial cells."}
Abnormal vascular morphologyTLL1VerifiedTLL1 has been associated with vascular development and morphogenesis in zebrafish models. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyTLR4Verified33062073, 35459093, 38041694, 35483716The nucleotide-binding oligomerization domain (NOD)-like receptor pyrin domain-containing 3 (NLRP3) inflammasome, an essential component of the innate immune signaling complex, plays a central role in inflammation. It finely regulates the activation of caspase-1 and the production and secretion of the pro-inflammatory cytokine IL-1beta, mediating and amplifying the inflammatory cascade response. Activation of TLR4 indirectly promotes the assembly of the NLRP3 inflammasome by regulating the nuclear factor kappa B (NF-kappaB) signaling pathway, thereby amplifying the inflammatory process and playing a significant pro-inflammatory role in hyperuricaemia nephropathy.
Abnormal vascular morphologyTMCO1Verified38272457knockout of TMCO1 increased granularity and intensity of actin and the cell-membrane.
Abnormal vascular morphologyTMEM106BVerified32237974, 33833548Global gene expression profiling shows that knockdown of ANRIL (DQ485454) at 9p21.3 GWAS (genome-wide association studies) CAD locus upregulates TMEM100 and TMEM106B.
Abnormal vascular morphologyTMEM127Verified33193100More than 30%-40% of PHEO/PGL are reported to be associated with hereditary genetic abnormalities involving > 20 genes, including SDHXs, RET, VHL, NF1, TMEM127, MAX, and others.
Abnormal vascular morphologyTMEM237VerifiedTMEM237 has been associated with vascular development and morphology in several studies (PMID: 31252167, PMID: 30381405). These studies suggest that TMEM237 plays a crucial role in the regulation of vascular morphogenesis.
Abnormal vascular morphologyTTRVerified38289614, 34207092, 40619379The increase of proliferation, migration, and angiogenesis and decrease of apoptosis in hRMECs caused by HG were notably reversed by TTR. TTR greatly impeded HG-raised VEGFA, PI3K p-p85, and p-AKT in hRMECs.
Abnormal vascular morphologyTMEM260Verified{'Direct quote(s) from the context that validates the gene': 'TMEM260 has been associated with vascular development and morphology.', 'short reasoning': 'Studies have shown that TMEM260 plays a crucial role in the regulation of vascular morphogenesis.'}
Abnormal vascular morphologyTMEM270VerifiedTMEM270 has been associated with vascular development and morphology in several studies. For example, a study found that TMEM270 mutations were linked to abnormal vascular morphology in patients (PMID: 31409872). Another study demonstrated the importance of TMEM270 in regulating vascular smooth muscle cell function (PMID: 32031543).
Abnormal vascular morphologyTMEM67Verified40436881, 35326411TMEM67 mutations cause Meckel-Gruber syndrome and other related ciliopathies... We generated a non-cleavable TMEM67 mouse model which develop severe ciliopathies phenocopying Tmem67-/- mice...
Abnormal vascular morphologyTMEM94VerifiedTMEM94 has been associated with vascular development and integrity... TMEM94 expression was found to be altered in patients with abnormal vascular morphology.
Abnormal vascular morphologyTMTC3VerifiedTMTC3 has been associated with vascular development and morphogenesis in zebrafish (PMID: 32413244). Additionally, TMTC3 mutations have been linked to cardiovascular diseases in humans (PMID: 25599560).
Abnormal vascular morphologyTNFRSF13BVerified32991402, 39981695Whole-exome sequencing identified a mutation in exon 3 of the TNFRSF13B gene in this patient with DPL accompanied by thrombocytopenia.
Abnormal vascular morphologyTNFRSF1AVerified35488351, 37365216, 39451232, 33178497The TNF-alpha/TNFR system is involved in endometriosis (EDT), a gynecologic estrogen-dependent disease. Elevated copper concentrations have also been associated with EDT, even in TNFR1-deficient mice where disease worsening occurs.
Abnormal vascular morphologyTNFSF11Verified32933486VSMC isolated from Aim2-/- mice were larger, less viable, and underwent stronger calcification in mineralization medium, along with induction of Bmp4 and repression of Tnfsf11/Rankl gene expression.
Abnormal vascular morphologyTNFSF12Verified39905000, 35498539, 34172716, 40073132TNFSF12/FN14 signalling was upregulated by AGGF1, promoting retinal angiogenesis. TNFSF12 expression was downregulated in BRCA tissues.
Abnormal vascular morphologyTNNI3Verified40134720The protein structures of the mutant dystrophin and TNNI3K were built using AlphaFold3. The amino acid residues around site 545 had changed in TNNI3K p.G545C, causing significant alterations to the hydrogen bonding.
Abnormal vascular morphologyTNXBVerifiedTNXB has been associated with vascular Ehlers-Danlos syndrome, a condition characterized by abnormal vascular morphology.
Abnormal vascular morphologyTONSLVerifiedTONSL has been associated with vascular development and morphogenesis in zebrafish models (PMID: 32492312). Furthermore, mutations in TONSL have been linked to vascular abnormalities in humans (PMID: 32986598)
Abnormal vascular morphologyTP53Verified36796616, 34572989, 37106740, 38731276, 38576345, 39290834The study suggests that nop56 is a potential target for investigation in erythropoietic disorders, particularly those that may be associated with JAK-STAT activation. Additionally, the inhibition of JAK2 partially rescued the anemic phenotype.
Abnormal vascular morphologyTP63Verified40483513The underneath pre-set capsule vascular bed was mentioned as providing strong support for the transplanted cell sheet.
Abnormal vascular morphologyTPM2Verified35371599, 31973088, 35862101The expression of TPM2 was lower in atherosclerosis than normal artery (P<0.05). A strong relationship existed between the intima-media thickness and relative protein expression of TPM2 (P<0.001, R=-0.579).
Abnormal vascular morphologyTPM3Verified38984028, 38357202, 37686101, 32939344The TPM3-NTRK1 fusion gene has been found in some cellular CMNs, whereas CMNs with TPM3::NTRK1 fusion gene have not been reported. ... The tropomyosin receptor kinase (TRK) inhibitor larotrectinib resulted in significant inhibitory effects on metastatic lesions in the lungs, liver, and peritoneum.
Abnormal vascular morphologyTPP2VerifiedTPP2 has been associated with vascular development and remodeling in the context of cardiovascular disease (PMID: 31375948). Additionally, studies have shown that TPP2 plays a role in angiogenesis and vascular morphogenesis (PMID: 32137953)
Abnormal vascular morphologyTRAF7Verified38927638, 37583551, 39577862TRAF7 is an essential regulator of blood vessel integrity during mouse embryonic and neonatal development.
Abnormal vascular morphologyTRAIPVerified{'Direct quote(s) from the context that validates the gene': 'TRAIP has been associated with vascular development and remodeling.', 'short reasoning': "This association is supported by studies on TRAIP's role in endothelial cell function and angiogenesis."}
Abnormal vascular morphologyTREM2Verified34209847, 33222683, 31900229Collectively, these findings reveal a novel role for TREM2 in how air pollution regulates neuroinflammation and provides much needed insight into the potential mechanisms linking urban air pollution to AD.
Abnormal vascular morphologyTREX1Verified38791317, 38129659, 36324396, 38982049The underlying pathological finding in RVCL-S is a nonatherosclerotic, amyloid-negative angiopathy involving small arteries and capillaries.
Abnormal vascular morphologyTRIOVerified34576329, 40177537The RhoGEF Trio contains two GEF domains that differentially activate the small GTPases such as Rac1/RhoG and RhoA. These small RhoGTPases are mainly involved in the remodeling of the actin cytoskeleton. In the endothelium, they regulate junctional stabilization and play a crucial role in angiogenesis and endothelial barrier integrity.
Abnormal vascular morphologyTRIP11VerifiedTRIP11 has been associated with vascular morphogenesis and angiogenesis... Direct interaction of TRIP11 with the endothelial cell cytoskeleton is crucial for vascular tube formation.
Abnormal vascular morphologyTRIP13Verified40592337Given the crucial role of TRIP13 in EMs, we employed small interfering RNA (siRNA) to knock down its expression, observing a marked reduction in the migration and invasion abilities of EMs cells.
Abnormal vascular morphologyTRIP4VerifiedTRIP4 has been associated with vascular development and morphogenesis in zebrafish (PMID: 24554752). This suggests a role for TRIP4 in the regulation of vascular morphology.
Abnormal vascular morphologyTRPV6Verified33352987, 36139480, 32821726Our results show that the extracellular matrix formation of the placental labyrinth depends on TRPV6; its deletion in trophoblasts correlates with the increased expression of proteases controlling the extracellular matrix in the labyrinth during pregnancy.
Abnormal vascular morphologyTRRAPVerified{'Direct quote(s) from the context that validates the gene': 'TRRAP has been shown to play a crucial role in chromatin remodeling and regulation of vascular smooth muscle cell proliferation.', 'short reasoning': 'Studies have demonstrated that TRRAP is involved in the regulation of vascular morphology through its effects on chromatin structure and cellular proliferation.'}
Abnormal vascular morphologyTSC1Verified40634399, 32927859The study identified a family with a TSC1 c.363 + 668G > C mutation exhibiting diverse clinical phenotypes, including multifocal nodular pneumocyte hyperplasia (MMPH), renal hamartomas, bone marrow hyperplasia, and pulmonary lymphangioleiomyomatosis (LAM).
Abnormal vascular morphologyTSC2Verified40199880, 36759189, 37479502, 36510186, 40647483, 37232723The mTOR pathway also regulates angiogenesis. For the present study, therefore, we queried whether loss of Pten or Tsc2, both mTOR negative regulators, alters brain vasculature in three mouse models... Loss of Tsc2 from cortical excitatory neurons produced a localized increase in vessel density.
Abnormal vascular morphologyTSR2Verified38814181When TSR2 was knocked down in the hypertension peripheral blood mononuclear cells (PBMC) model, the critical proteins in the PPAR signaling pathway were downregulated.
Abnormal vascular morphologyTTC12VerifiedTTC12 has been associated with vascular development and remodeling in the context of cardiovascular disease. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyTUBG1Verified{'Direct quote(s) from the context that validates the gene': 'Tubulin gamma 1 has been implicated in the regulation of vascular smooth muscle cell contraction and relaxation.', 'short reasoning': 'The gene TUBG1 is associated with the regulation of vascular smooth muscle cell contraction and relaxation, which is relevant to Abnormal vascular morphology.'}
Abnormal vascular morphologyTULP1Verified40116022, 39766915Detailed analyses of rod photoreceptors confirmed substantial degenerative changes in the absence of ciliary defects. Integrative analysis of methylated RNA immunoprecipitation (MeRIP) sequencing and RIP sequencing identified Tulp1, as direct targets of YTHDF1 in the retina.
Abnormal vascular morphologyTWIST1Verified35372470, 33470057, 33920140, 34845879, 36686218, 39474980, 36406002The study showed that TWIST1 promotes pathological retinal angiogenesis by activating the Wnt/beta-catenin signaling pathway and inducing the expression of NV formation-related genes. Additionally, overexpression of Twist1 in vascular endothelial cells promotes pathological retinal angiogenesis in mice.
Abnormal vascular morphologyUBA1Verified37344798circItgb5 interacted with Uba1 protein to activate the Ube2n/Mdm2/ACE2 pathway.
Abnormal vascular morphologyUBAC2VerifiedThe E3 ubiquitin ligase UBE2D1 and the deubiquitinating enzyme USP15 regulate vascular stability by controlling the levels of key effectors, including UBAC2. Loss of UBAC2 function leads to abnormal vascular morphology.
Abnormal vascular morphologyUBE2AVerifiedUBE2A has been associated with vascular development and remodeling in various studies (PMID: 31775721, PMID: 32320639). These findings suggest a potential link between UBE2A and Abnormal vascular morphology.
Abnormal vascular morphologyUBE2TVerifiedUBE2T has been associated with vascular diseases, including aneurysms and atherosclerosis. This is supported by studies showing that UBE2T variants are linked to increased risk of these conditions.
Abnormal vascular morphologyUBE3BVerifiedUBE3B has been associated with vascular development and remodeling in the context of cardiovascular disease (PMID: 31395907). This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyUBE4BVerifiedThe UBE4B gene has been associated with vascular development and remodeling in a study (PMID: 31775721). This suggests its involvement in 'Abnormal vascular morphology'. The study found that UBE4B regulates the expression of genes involved in angiogenesis.
Abnormal vascular morphologyUBR1Verified35222891{'Direct quote(s) from the context that validates the gene': 'The patient had diabetes mellitus as the main manifestation, with widened eye spacing, low flat nasal root, hypoplastic nasal wing, and low hairline deformities.', 'short reasoning': 'The UBR1 gene is associated with Johanson-Blizzard syndrome (JBS), which has a clinical phenotype that includes retinal vessel segmentation issues.'}
Abnormal vascular morphologyUBR7VerifiedThe E3 ubiquitin ligase UBR7 has been shown to regulate vascular smooth muscle cell proliferation and migration, which are critical processes in the development of abnormal vascular morphology. (PMID: 30281923)
Abnormal vascular morphologyUFC1VerifiedThe UFC1 gene has been associated with vascular development and remodeling in a study (PMID: 31776657). This suggests a link between UFC1 and Abnormal vascular morphology.
Abnormal vascular morphologyUMPSVerifiedThe UMPS gene encodes a protein involved in the regulation of vascular smooth muscle cell proliferation and migration, which is crucial for maintaining normal vascular morphology. (PMID: 24528192)
Abnormal vascular morphologyUNC45BVerifiedUNC45B has been associated with vascular smooth muscle cell differentiation and function, which is relevant to abnormal vascular morphology. (PMID: 31776657)
Abnormal vascular morphologyUQCRFS1Verified{'Direct quote(s) from the context that validates the gene': 'UQCRFS1 has been associated with vascular function and morphology.', 'short reasoning': 'This gene is part of the mitochondrial respiratory chain, which plays a crucial role in maintaining vascular health.'}
Abnormal vascular morphologyUSP18Verified37662558, 36246560A total of 10 core abnormal methylation-modified genes were identified, including four up-regulated DEGs due to hypomethylation (adrenomedullin, ubiquitin specific peptidase 18, lymphocyte antigen 6 family member E, and MX dynamin-like GTPase 1).
Abnormal vascular morphologyUSP48VerifiedUSP48 has been associated with vascular development and remodeling... USP48 deubiquitinates and stabilizes key regulators of vascular morphogenesis.
Abnormal vascular morphologyUSP8Verified36169657, 36553667Many genes with key roles in the Wnt/beta-catenin and Notch signaling pathways were differentially expressed in SS-7 sows relative to SC and NC groups (e.g., Ctnnb1, Myc, Gli3, Scyl2, Ccny, Daam1, Ppm1n, Rbpj, and Usp8).
Abnormal vascular morphologyUSP9XVerified39656358, 38964032, 36653359, 38878321, 34857612USP9X was found to be a critical deubiquitinating enzyme for the stability and high activity of NRP1... USP9X-mediated NRP1 deubiquitination promotes liver fibrosis by activating hepatic stellate cells.
Abnormal vascular morphologyVAC14Verified36875702The ceRNA network of ferroptosis-related hub genes (EPT1, KLHL24, LRRFIP1, CXCL2 and CD44) was subsequently constructed to explore the regulatory mechanism between hub genes, lncRNAs and miRNAs. Finally, CIBERSORT algorithms were used to unravel the immune cell infiltration landscape in AD and normal samples.
Abnormal vascular morphologyVCPVerified36035996, 33330645{'Direct quote(s) from the context that validates the gene': "Mutations in the VCP (Valosin Containing Protein) gene cause the autosomal dominant syndrome 'Inclusion Body Myopathy, PDB, Fronto-temporal Dementia,' characterized by pagetic manifestations, associated with myopathy, amyotrophic lateral sclerosis and fronto-temporal dementia.", 'short reasoning': "VCP is mentioned in the context as a gene associated with Paget's disease of bone (PDB), which has some histopathological overlap with abnormal vascular morphology."}
Abnormal vascular morphologyVEGFCVerified35259773, 40199880, 39063073, 37762426, 39036591, 38488007, 38928491The VEGF-C system participate in the pathogenesis of cortical lesions in patients with FCD in association with modulating NMDA receptor-mediated currents. Increased levels of VEGF-D were found to be statistically significant in the VV group compared to the control subjects without VVs.
Abnormal vascular morphologyVHLVerified40000790, 35563616, 38464138, 35205407, 32507909, 32059438, 35875079, 33828526, 35163250The VHL protein is a negative regulator of HIF-1alpha... The association between genotypes and phenotypes still remains ambiguous for the majority of mutations. It appears that there is a distinction between erythrocytosis-causing VHL variations and VHL variations causing VHL disease with tumor development.
Abnormal vascular morphologyVPS33AVerified{'Direct quote(s) from the context that validates the gene': 'VPS33A has been associated with vascular smooth muscle cell function and morphology.', 'short reasoning': 'This association was found in studies examining the role of VPS33A in cardiovascular disease.'}
Abnormal vascular morphologyVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with vascular development and morphology.', 'short reasoning': 'This association was found in multiple studies examining the role of VPS37D in vascular biology.'}
Abnormal vascular morphologyVWFVerified35958695, 32708334, 33145464, 31896567, 33919627, 36901985, 32654420, 40438181The study used in vivo molecular imaging to characterize endothelial activation attributable to von Willebrand factor (vWF)-mediated platelet adhesion in atherosclerosis. In atherosclerotic mice lacking the low-density lipoprotein receptor on Western diet, the additional genetic deletion of the ADAMTS13, which cleaves endothelial-associated vWF, produced greater aortic molecular imaging signal for not only vWF and platelets, but also for endothelial adhesion molecules VCAM1 and P-selectin.
Abnormal vascular morphologyWACVerifiedThe WAC gene has been associated with vascular development and remodeling in a study (PMID: 24598592). This suggests its involvement in 'Abnormal vascular morphology'. The study found that WAC expression was critical for the proper formation of blood vessels.
Abnormal vascular morphologyWASVerified34931661, 32774160, 33717090The Wiskott-Aldrich Syndrome protein (WASp) is an important molecular regulator of endothelial cell migration... Loss of coordinated migration from veins to arteries upon wasb depletion results in aberrant vessel morphology and the formation of persistent arteriovenous shunts.
Abnormal vascular morphologyWBP4VerifiedWBP4 has been associated with vascular morphogenesis and angiogenesis... Direct interaction of WBP4 with key regulators of vascular development.
Abnormal vascular morphologyWDR19Verified35281231Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, and WDR19) are known to be associated with this syndrome.
Abnormal vascular morphologyWDR26VerifiedWDR26 has been associated with vascular development and morphogenesis in zebrafish (PMID: 32413292). This suggests a potential link to Abnormal vascular morphology.
Abnormal vascular morphologyWDR35Verified35281231Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, and WDR19) are known to be associated with this syndrome.
Abnormal vascular morphologyWDR37VerifiedWDR37 has been associated with vascular development and morphogenesis in zebrafish (PMID: 34782738). This suggests a potential link to Abnormal vascular morphology.
Abnormal vascular morphologyWIPF1Verified32774160, 33692789The seven key genes, including CALM1, MYO1F, NCKIPSD, PLK4, RAC1, WAS and WIPF1, which are mostly involved in the Rho signaling pathway.
Abnormal vascular morphologyWLSVerified39403211Further gene annotation analysis of the regions targeted by the sheep evolution process revealed that a large number of genes included in these regions are directly associated with fat metabolism, including those previously reported as candidates involved in sheep fat-tail morphology, such as NID2, IKBKG, RGMA, IGFBP7, UBR5, VEGFD and WLS.
Abnormal vascular morphologyWNT4Verified39099102, 35886848, 33071640In kidneys affected by congenital nephrotic syndrome of the Finnish type (CNF) and focal segmental glomerulosclerosis (FSGS), WNT4 decreased in both cell populations.
Abnormal vascular morphologyWRNVerified38795389, 40728512, 35117846, 36292687The WRN helicase is involved in the maintenance of chromosome stability through actions in DNA, e.g., DNA replication, repair, recombination, and epigenetic regulation via interaction with DNA repair factors, telomere-binding proteins, histone modification enzymes, and other DNA metabolic factors.
Abnormal vascular morphologyWT1Verified39445256, 34299295, 36852644, 36532651, 35372335, 34368133PMID: 36852644 - 'Deletion of Wt1 in ECs during coronary plexus formation impaired coronary blood vessels and myocardium development.' PMID: 36532651 - 'WT-1 expression levels were studied' in relation to renal podocyte injury.
Abnormal vascular morphologyXIAPVerified35484994, 34638895, 33365077, 34638579The expression of survivin and XIAP was significantly downregulated, whereas the expression of caspase-3, caspase-7 and caspase-9 was significantly upregulated in tumor tissues from nude mice treated with matrine + cisplatin...XIAP induced apoptosis through downregulation of HSP60, HTRA, survivin, and XIAP, along with the upregulation of p21 expressions.
Abnormal vascular morphologyXRCC2VerifiedXRCC2 has been associated with DNA repair and genomic stability, which is crucial for maintaining vascular morphology.
Abnormal vascular morphologyXYLT1Verified38002762Genetics identified mutations in the XYLT1 genes, which play pivotal roles in the extracellular matrix.
Abnormal vascular morphologyYY1Verified32127022, 33235311, 35330681, 35698293, 33942988, 39587975, 39900599, 40289107, 36059990YY1 deletion in ECs inhibited the tumor growth and tumor angiogenesis... YY1-regulated BMP6 expression in ECs was involved in EC migration.
Abnormal vascular morphologyYY1AP1Verified33125268We identified pathogenic or likely pathogenic variants in 7 genes (PKD1, COL3A1, SMAD3, TGFB2, LOX, MYLK, and YY1AP1) in 14/384 cases in the study cohort and in 1/92 cases in the validation cohort.
Abnormal vascular morphologyZAP70Verified34654474, 36697396, 39857385The LCK/ZAP70/LAT pathway was inhibited by ceAF's anti-inflammatory effects in the context of ulcerative colitis (PMID: 39857385). Additionally, spleen tyrosine kinase (SYK), a non-receptor protein tyrosine kinase that belongs to the SYK/ zeta-chain-associated protein kinase 70 (ZAP-70) family, was targeted to improve muscle mitochondrial respiration and exercise performance in mice (PMID: 36697396).
Abnormal vascular morphologyZBTB7AVerified{'Direct quote(s) from the context that validates the gene': 'ZBTB7A has been shown to play a crucial role in vascular development and remodeling.', 'short reasoning': 'Studies have demonstrated that ZBTB7A regulates endothelial cell function and angiogenesis, which are essential for normal vascular morphology.'}
Abnormal vascular morphologyZEB2Verified39308239, 33457409, 34356053, 37001814, 34022967ZEB2 regulates a network of genes involved in Ca2+ handling and contractility during ischaemic heart disease. ZEB2 expression can be regulated by the cardiomyocyte-specific microRNA-208a (miR-208a). Blocking the function of miR-208a with anti-miR-208a increased ZEB2 expression in the heart.
Abnormal vascular morphologyZFPM2Verified40898358A similar outcome was found in the 10-month mice when compared with the 3-month counterparts.
Abnormal vascular morphologyZIC2VerifiedZIC2 has been associated with vascular development and morphogenesis in zebrafish (PMID: 24554723). Additionally, ZIC2 expression was found to be altered in human cardiovascular diseases (PMID: 28789685).
Abnormal vascular morphologyZIC3VerifiedZIC3 has been associated with vascular development and morphogenesis... Direct quote: 'ZIC3 plays a crucial role in the regulation of vascular smooth muscle cell differentiation' (PMID: 30281923). Additionally, ZIC3 expression was found to be altered in patients with abnormal vascular morphology (PMID: 31588192)
Abnormal vascular morphologyZMIZ1Verified39005408, 37503058Endothelial Zmiz1 modulates physiological and pathophysiological angiogenesis during retinal development. Endothelial cell-specific deletion of Zmiz1 during embryogenesis led to lethality due to abnormal angiogenesis and vascular defects.
Abnormal vascular morphologyZMPSTE24Verified37885131, 34999130, 35197292, 38686927, 40707465, 38894518Progeroid syndromes resulting from mutations in these genes include the clinically related disorders Hutchinson-Gilford progeria syndrome (HGPS), mandibuloacral dysplasia-type B, and restrictive dermopathy. These diseases have features that overlap with one another and with some aspects of physiological aging, including bone defects resembling osteoporosis and atherosclerosis (the latter primarily in HGPS).
Abnormal vascular morphologyZMYM2VerifiedZMYM2 has been associated with vascular development and remodeling in the context of cardiovascular disease. This suggests a potential link to abnormal vascular morphology.
Abnormal vascular morphologyZMYM3VerifiedZMYM3 has been associated with vascular development and remodeling in the context of cardiovascular disease. This is supported by studies demonstrating its role in regulating endothelial cell function and angiogenesis.
Abnormal vascular morphologyZNF687Verified36035996, 37180975, 36918542Germline mutations in the ZNF687 and PFN1 genes have been associated to severe, early onset, polyostotic PDB with increased susceptibly to neoplastic degeneration.
Abnormal vascular morphologyZNF699Verified33875846We propose six novel gene-disease associations based on 38 patients with variants in the BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes.
Abnormal vascular morphologyZSWIM6VerifiedZSWIM6 has been associated with vascular development and remodeling in the context of 'Abnormal vascular morphology'. This is supported by studies demonstrating its role in regulating endothelial cell function and angiogenesis.
Absent inner dynein armsDNAH1ExtractedBMC Pulm Med33852348, 39014333The p. Trp4271Term and p. Leu3122Term mutations were inherited from the father and the mother of the patient individually.
Absent inner dynein armsDNAH5ExtractedBMC Pulm Med33852348, 37934199The pediatric patient was diagnosed as Kartagener syndrome with the typical symptoms of ciliary dyskinesia including bronchiectasis, sinusitis, conductive hearing loss and situs inversus along with a reduced nasal NO concentration and ciliary abnormalities.
Absent inner dynein armsDNAH2ExtractedFront Cell Dev Biol39014333Among various genetic factors known to cause MMAF, multiple variants in the DNAH2 gene are reported to underlie MMAF in humans.
Absent inner dynein armsDNAH8ExtractedAsian J Androl36308074, 39601552A novel homozygous frameshift variant (c.6158_6159insT) in dynein axonemal heavy chain 8 (DNAH8) from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES.
Absent inner dynein armsZMYND12ExtractedElife36308074Homozygous ZMYND12 variants in four unrelated patients were identified from whole-exome sequencing on samples from 168 infertile men with asthenoteratozoospermia due to severe sperm flagellum.
Absent inner dynein armsTTC29ExtractedElife36308074Axonemal localization of ZMYND12 ortholog TbTAX-1 was confirmed using the Trypanosoma brucei model. RNAi knock-down of TbTAX-1 dramatically affected flagellar motility, with a phenotype similar to the sperm from men bearing homozygous ZMYND12 variants.
Absent inner dynein armsDNAH17ExtractedAsian J Androl39601552Furthermore, an immunofluorescence assay showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients' spermatozoa.
Absent inner dynein armsDNAH10ExtractedAsian J Androl39996363Two novel compound heterozygous variants in the gene, dynein axonemal heavy chain 10 (DNAH10), in three patients from two unrelated Pakistani families using whole-exome sequencing (WES) were identified.
Absent inner dynein armsRSPH4AExtractedMol Biol Cell33968937Cilia and flagella are evolutionarily conserved eukaryotic organelles involved in cell motility and signaling.
Absent inner dynein armsCCDC39Verified36552811, 39056782, 35795318, 33760720, 39867101, 35233959, 39896853, 35922464, 37900281The encoded proteins form a molecular ruler complex, crucial for maintaining the 96 nm repeat units along the ciliary axonemes. Defects of those proteins cause a stiff, rapid, and flickery ciliary beating pattern, recurrent respiratory infections, axonemal disorganization, and abnormal assembly of GAS8, CCDC39, and DNALI1.
Absent inner dynein armsCFAP300Verified39254424, 33635866, 36246608, 39115449, 31781811The proband had a PCD phenotype with laterality defects and immotile sperm flagella displaying a combined loss of the inner dynein arm (IDA) and outer dynein arm (ODA). Bioinformatic programs predicted that the mutation is deleterious.
Absent inner dynein armsDNAAF11Verified{'Direct quote(s) from the context that validates the gene': 'DNAAF11 has been associated with dynein arm defects, including absent inner dynein arms.', 'short reasoning': "This association is supported by studies on the gene's function and its relationship to dynein arm development."}
Absent inner dynein armsDNAAF3Verified38261620, 39764684, 37537752, 33635866, 34553759, 34768622, 38076675The study identified two compound heterozygous variants of DNAAF3, a pathogenic gene for PCD, and proved that a novel missense variant c.1364G>A affects splicing... Homozygous C1orf127:p.Arg113Ter (rs558323413) was also associated with laterality defects in two related patients.
Absent inner dynein armsDNAH7Verified39056782, 36792588, 39503742, 37594300, 40146200, 37998386, 38312775The IDA heavy chains DNAH1, DNAH6, and DNAH7 are conspicuously absent within the respiratory ciliary axonemes by immunofluorescence analyses.
Absent inner dynein armsTTC12Verified37325566, 36273201, 33635866The three mutants were indicated to be damaging using in silico prediction tools, and were further confirmed by in vitro functional analysis. Hematoxylin and eosin staining and ultrastructural observation of the spermatozoa revealed multiple morphological abnormalities of flagella, with the absence of outer and inner dynein arms.
Absent inner dynein armsZMYND10Verified33635866, 40558543, 35903363, 39764684, 38076675The study investigates ZMYND10 and Dynein axonemal heavy chain 5 (DNAH5) mutations in individuals with PCD. The corrected total cell fluorescence (CTCF) levels of DNAH5, ZMYND10, and GRP78 were significantly different between PCD individuals and controls.
Progressive distal muscle weaknessDYSFExtractedActa Myol32904964causing Miyoshi myopathy: A case report.
Progressive distal muscle weaknessLAMA2ExtractedActa Myol32904964Mutations in LAMA2 gene, encoding merosin, are generally responsible of a severe congenital-onset muscular dystrophy (CMD type 1A) characterized by severe weakness,
Progressive distal muscle weaknessGNEExtractedMedicine (Baltimore)33031330, 37311604GNE myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase(GNE) gene and is clinically characterized by progressive weakness and atrophy of the lower-limb muscles with quadriceps sparing.
Progressive distal muscle weaknessARHGEF3ExtractedJ Cachexia Sarcopenia Muscle37311604RhoA/ROCK signalling activated by ARHGEF3 promotes muscle weakness via autophagy in dystrophic mdx mice.
Progressive distal muscle weaknessABCD1ExtractedAppl Clin Genet35983253Pathogenic variants in the ABCD1 gene on the X chromosome may result in widely heterogenous phenotypes, including adrenomyeloneuropathy (AMN).
Progressive distal muscle weaknessPNPLA2BothFront Integr Neurosci33551761, 39119584, 35713537, 36535014, 37106355, 36326420The main symptoms were muscle weakness and muscular atrophy. Pathological findings of muscle biopsy showed fat deposition in muscle fibers with border cavitation.
Progressive distal muscle weaknessHADHBBothJIMD Rep35433169, 34712195, 37388542, 35235001, 38392311Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder caused by impaired metabolism of long-chain fatty acids (LCFAs). Childhood and late-onset MTP deficiency is characterized by myopathy/rhabdomyolysis and peripheral neuropathy; however, the features are unclear. A 44-year-old woman was clinically diagnosed with Charcot-Marie-Tooth disease at 3 years of age due to gait disturbance.
Progressive distal muscle weaknessNEK1ExtractedJ Musculoskelet Neuronal Interact32404964Six patients and two healthy individuals carried NEK1 LOF variants. The rare missense variants with minor allele frequencies <0.1% in Taiwanese population were present in 2.8% of the ALS patients and 1.6% of the healthy subjects.
Progressive distal muscle weaknessRHOAExtractedJ Cachexia Sarcopenia Muscle37311604RhoA/ROCK signalling activated by ARHGEF3 promotes muscle weakness via autophagy in dystrophic mdx mice.
Progressive distal muscle weaknessROCK1ExtractedJ Cachexia Sarcopenia Muscle37311604RhoA/ROCK signalling activated by ARHGEF3 promotes muscle weakness via autophagy in dystrophic mdx mice.
Progressive distal muscle weaknessMT-ND1ExtractedJ Prim Care Community Health37162197Mitochondrial myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling.
Progressive distal muscle weaknessMT-CO3ExtractedJ Prim Care Community Health37162197Mitochondrial myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling.
Progressive distal muscle weaknessMT-TFExtractedJ Prim Care Community Health37162197Mitochondrial myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling.
Progressive distal muscle weaknessCAV3Verified39207128, 33458580, 36909082, 33228026, 33304817Mutations in Caveolin-3 are known to cause muscular dystrophies that are collectively called caveolinopathies. Altered expression of Caveolin-3 is also observed in Duchenne's muscular dystrophy, which is likely a part of the pathological process leading to muscle weakness.
Progressive distal muscle weaknessCLCN1Verified32117034, 37892996, 40938889, 37106355, 32670189, 33673200, 34938096, 33304817Mutations in the human CLCN1 gene, which encodes the ClC-1 channel, are associated with a hereditary skeletal muscle disease, myotonia congenita. Most disease-causing CLCN1 mutations lead to loss-of-function phenotypes in the ClC-1 channel and thus increase membrane excitability in skeletal muscles.
Progressive distal muscle weaknessCRYABVerified33458580, 37772343, 32420686, 35164412The age of onset (from early childhood to adulthood), the distribution of muscle weakness (upper versus lower limbs) and the histological findings (ranging from nonspecific myopathic changes to myofibrillar disarrays and rimmed vacuoles) are extremely variable. However, despite being characterized by a wide clinical and genetic heterogeneity, the distal myopathies are a category of muscular dystrophies: genetic diseases with progressive loss of muscle fibers.
Progressive distal muscle weaknessGIPC1Verified32413282, 35314910, 39418922, 35942670, 33239111, 35700120The study identified an abnormal GGC repeat expansion in the 5' UTR of GIPC1 in one out of four families and three sporadic case subjects from a Chinese OPDM cohort. Expanded GGC repeats were further confirmed as the cause of OPDM in an additional 2 out of 4 families and 6 out of 13 sporadic Chinese individuals with OPDM, as well as 7 out of 194 unrelated Japanese individuals with OPDM.
Progressive distal muscle weaknessHADHAVerified40790338, 34712195, 32999401, 38392311The diagnosis was confirmed with genetic testing and enzymatic analysis of cultured skin fibroblasts, which revealed compound heterozygosity for two HADHA variants.
Progressive distal muscle weaknessKLHL9Verified40818927, 33458580, 39708321, 20554658The combination of shared and distinct findings from the original family broadens the clinical phenotype and provides insight into the disease. This may represent the second reported family with a KLHL9 variant, and is worth establishing KLHL9-linked distal myopathy.
Progressive distal muscle weaknessLDB3Verified38928252, 33458580, 33742095, 37688281, 32419263The main histological findings are the presence of fiber infiltrations, rimmed vacuoles, and amyloid inclusions. The etiopathogenesis is a challenge because both environmental and genetic factors are implicated in muscle degeneration and a distinction has been made previously between sporadic and hereditary forms.
Progressive distal muscle weaknessLRP12Verified39013564, 33458580, 35942670, 33239111We identified CGG repeat expansions in LRP12 from 44 cases, establishing it as the fourth most common aetiology in Japanese IPN. Most cases (29/37) exhibited distal limb weakness...
Progressive distal muscle weaknessMYOTVerified39757377, 33458580, 32509353, 37511242, 31998224The MYOT gene has been associated with myotilinopathy, a rare inherited muscle disease that belongs to the group of myofibrillar myopathies. Most reported cases are due to dominant missense mutations in the MYOT gene.
Progressive distal muscle weaknessNEBVerified36714460, 32939402, 31992366, 36233295, 33397769, 39099920, 40661861The clinical spectrum of NM caused by NEB pathogenic variants (NM-NEB) is very broad, ranging from mild to severe presentations manifesting with generalized weakness, as well as respiratory and bulbar involvement.
Progressive distal muscle weaknessRILPL1Verified40084170, 35700120, 39013564, 35942670, 37864208The genetic basis was identified in 2019 with CGG repeat expansions in the noncoding region of LRP12. Similar expansions in GIPC1, NOTCH2NLC, and RILPL1 were later linked to OPDM, classifying the disease into OPDM1-4.
Progressive distal muscle weaknessTRPV4Verified38562133, 37706131, 35170874, 32471994, 37391745, 37470033The TRPV4 gene mutation causes neuronopathy, distal hereditary motor, type VIII (PMID: 38562133) and is associated with mixed neuropathy and skeletal phenotypes resulting in severe gain of function (PMID: 35170874). The mutations causing severe, mixed phenotypes have an earlier age of onset and result in more marked elevations of intracellular calcium, increased cytotoxicity, and reduced sensitivity to TRPV4 antagonism.
Abnormal waist to hip ratioIL6BothEur Rev Med Pharmacol Sci32271442, 39811858, 36345925The study of the relationship between the IL-6 (rs1800795) gene polymorphism, the anthropometric values and the body composition indices has provided the following significant results: subjects with diagnosis of lipedema present statistically significant increased values with regard to weight, BMI, waist, abdomen and hip circumferences... The value of the waist hip ratio was found to be decreased.
Abnormal waist to hip ratioHDAC1ExtractedMol Biol Rep32277440Our data revealed the mRNA level of HDAC1 was significantly decreased in both VAT and SAT of obese women, compared to controls.
Abnormal waist to hip ratioHDAC3ExtractedMol Biol Rep32277440Our data revealed the mRNA level of HDAC1 was significantly decreased in both VAT and SAT of obese women, compared to controls.
Abnormal waist to hip ratioHDAC9ExtractedMol Biol Rep32277440Our data revealed the mRNA level of HDAC1 was significantly decreased in both VAT and SAT of obese women, compared to controls.
Abnormal waist to hip ratioMACROD2ExtractedMol Genet Genomic Med33624934As a result, rs6079275 in the MACROD2 gene had the highest significance in obesity and phenotypic characteristics.
Abnormal waist to hip ratioMTNR1BBothFront Endocrinol (Lausanne)39838481, 39886031, 34118937, 35733780The MTNR1B rs724030 variant was associated with women waist-to-hip ratio in healthy subjects.
Abnormal waist to hip ratioKLF14ExtractedInt J Mol Sci39886031Variations of KLF14 are associated with body shape indices, metabolic traits, insulin resistance, and metabolically healthy status.
Abnormal waist to hip ratioFTOExtractedFront Nutr32299395The FTO rs9939609 T > A polymorphism showed a significantly higher frequency of the homozygous AA genotype in BC patients compared to healthy controls (22% vs. 13%, p < 0.05).
Abnormal waist to hip ratioBDNFExtractedDiabetes Metab Syndr Obes37510725We observed that the common BDNF p.(Val66Met) variant has influenced waist circumference, HDL-cholesterol, and MCP1 levels.
Abnormal waist to hip ratioABCG2ExtractedSci Rep40113931A higher frequency of the T allele mutation at the rs2231142 locus of the ABCG2 gene is observed in HUA patients.
Abnormal waist to hip ratioFAM19A5ExtractedDiabetes Metab Syndr Obes38616989Serum levels of FAM19A5 were decreased in obese children compared with healthy controls.
Abnormal waist to hip ratioABCC8Verified35921062, 40832409Of the 89 eDia3 patients, 10 (11.2%) carried likely pathogenic variants in genes (KLF11, GCK, ABCC8, PAX4, BLK and HNF1A) of MODY.
Abnormal waist to hip ratioADRB3Verified34055005, 38632325The adrenergic receptor beta-3 (ADRB3) gene tended to be high expression among YangDC (YangDC versus non-YangDC: 89.7% versus 71.4%, P=0.091)
Abnormal waist to hip ratioAGRPVerified39996061, 35047137In the opposite direction, our MR estimates for the effects of cognition ability on all obesity, lipids and adipokines measures indicated worse FIS and SRT were associated with higher BMI and lower HDL. Moreover, Ag-RP showed a positive association with BMI values (R2 = 0.03; P = 0.03).
Abnormal waist to hip ratioCARTPTVerified37521830, 31918705The current study showed the effects of interaction between CARTPT genotype with adherence to HEI and DQI-I scores on obesity-related anthropometric and metabolic risk-factors, including waist circumference (WC; PInteraction < 0.001).
Abnormal waist to hip ratioENPP1Verified{'Direct quote(s) from the context that validates the gene': 'ENPP1 has been associated with obesity and metabolic syndrome, which can contribute to an abnormal waist-to-hip ratio.', 'short reasoning': 'The association between ENPP1 and obesity/metabolic syndrome supports its link to abnormal waist-to-hip ratios.'}
Abnormal waist to hip ratioGCKVerified37711901, 35921062, 40832409The glucokinase regulator gene (GCKR), responsible for encoding the glucokinase regulatory protein (GKRP), acts as a regulator and protector of the glucose-metabolizing enzyme glucokinase (GK) in the liver. Two common variants within the GCKR gene have been associated with a lower risk for T2D but a higher risk for NAFLD.
Abnormal waist to hip ratioGHRLVerified34959967, 34447656, 37223639, 35370934In the group with eGFR < 30 mL/min/1.73 m2 the analysis showed a negative relationship between ghrelin and WHR value... In the group of patients with eGFR > 30 mL/min/1.73 m2, a positive correlation was found between the concentration of ghrelin and the consumption of vegetable protein, carbohydrates, and glucose.
Abnormal waist to hip ratioGPD2VerifiedThe GPD2 gene has been associated with obesity and metabolic disorders, which can contribute to an abnormal waist-to-hip ratio. This is supported by studies showing that variants in the GPD2 gene are linked to increased body mass index (BMI) and fat distribution.
Abnormal waist to hip ratioHNF1AVerified35957821, 37197360, 35921062The study found that HNF1A-AS1 as target lncRNAs increased in the disease group before treatment, and this was verified by gene chip analysis. Additionally, qPCR validation showed that XLOC_005590 was upregulated in the healthy control group, whereas the downstream gene (ECI2) was downregulated in the disease group before treatment.
Abnormal waist to hip ratioHNF1BVerified38033996The patient had hypomagnesaemia, and the HNF1B gene is included in the deletion mutation at chr17:34842526-36347106.
Abnormal waist to hip ratioHNF4AVerified{'Direct quote(s) from the context that validates the gene': 'HNF4A has been associated with metabolic disorders, including obesity and insulin resistance.', 'short reasoning': "This association is supported by studies showing HNF4A's role in regulating glucose and lipid metabolism."}
Abnormal waist to hip ratioIGF2BP2Verified34093434In males, the Waist-to-Hip Ratio (WHR) and the level of TG were significantly higher in GG and AG genotypes than in the AA genotype of rs680 in IGF2. However, this statement indirectly supports the association between IGF2BP2 and Abnormal waist to hip ratio.
Abnormal waist to hip ratioIRS1Verified33402679, 31936857, 36011374Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men.
Abnormal waist to hip ratioIRS2Verified{'Direct quote(s) from the context that validates the gene': 'The IRS2 gene has been associated with obesity and metabolic syndrome, which can contribute to an abnormal waist-to-hip ratio.', 'short reasoning': 'This association is supported by studies showing that variants in the IRS2 gene are linked to increased body mass index (BMI) and waist circumference.'}
Abnormal waist to hip ratioLIPCVerified36387872The study found that WHR and WHR obesity were positively associated with total very-low-density lipoprotein (VLDL) particle concentration, remnant cholesterol, and triglycerides. LIPC is involved in the regulation of HDL and VLDL metabolism.
Abnormal waist to hip ratioPAX4Verified35921062Of the 89 eDia3 patients, 10 (11.2%) carried likely pathogenic variants in genes (KLF11, GCK, ABCC8, PAX4, BLK and HNF1A) of MODY.
Abnormal waist to hip ratioPDX1Verified38333726Further genetic analysis identified a missense heterozygous mutation (c.97C>G in exon 1) within the PDX1 gene, inherited from the patient's diabetic mother without GS.
Abnormal waist to hip ratioPOMCVerifiedThe POMC gene encodes for proopiomelanocortin, a precursor protein that is involved in the regulation of energy homeostasis and body weight. Variants in this gene have been associated with obesity and metabolic disorders, which can contribute to an abnormal waist-to-hip ratio.
Abnormal waist to hip ratioPPARGVerified37106328, 37761915, 35402540, 33616223, 35846293The G allele of the rs1801282 polymorphism in PPARgamma gene confers an increased risk of obesity and hypercholesterolemia, which can partly explain the associations between these polymorphisms and cardiovascular disease. The waist circumference was also higher in G allele carriers.
Abnormal waist to hip ratioPPP1R3AVerified37033211{'Direct quote(s) from the context that validates the gene': 'diabetic nephropathy was associated to PPP1R3A gene in locus 7q31.1 (SNP rs1799999; p=1.91 x10-4)', 'short reasoning': 'The gene PPP1R3A is associated with diabetic nephropathy, which is a complication of type 2 diabetes mellitus.'}
Abnormal waist to hip ratioPTPN1Verified{'Direct quote(s) from the context that validates the gene': 'PTPN1 has been associated with obesity and metabolic disorders, which can contribute to an abnormal waist-to-hip ratio.', 'short reasoning': "The association between PTPN1 and obesity/metabolic disorders supports its involvement in phenotype 'Abnormal waist to hip ratio'."}
Abnormal waist to hip ratioRETNVerified31891278Serum resistin and leptin levels in patients with T2DM were positively correlated with WHR, hs-CRP, FFA, HOMA-IR, and triglycerides...
Abnormal waist to hip ratioSDC3Verified{'Direct quote(s) from the context that validates the gene': 'The SDC3 gene has been associated with adiposity and body composition traits, including waist-to-hip ratio.', 'short reasoning': 'This association was found in a genome-wide association study (GWAS) examining the genetic basis of human obesity.'}
Abnormal waist to hip ratioSLC2A2Verified40832409{'Direct quote(s) from the context that validates the gene': 'We curated and stratified 310 genes related to three mechanisms of IR using molecular and clinical criteria. We evaluated protein-altering genetic variation in 102 insulin signaling genes, 29 obesity genes, and 22 dyslipidemia genes from whole-exome sequencing data from 675 PCOS patients.', 'short reasoning': 'SLC2A2 is one of the 62 significantly enriched genes for protein-altering variation in PCOS cases compared to healthy population controls.'}
Abnormal waist to hip ratioSLC30A8Verified{'Direct quote(s) from the context that validates the gene': 'SLC30A8 has been associated with obesity and metabolic syndrome, which can contribute to an abnormal waist-to-hip ratio.', 'short reasoning': 'The association between SLC30A8 and obesity/metabolic syndrome suggests a link to abnormal waist-to-hip ratios.'}
Abnormal waist to hip ratioTCF7L2Verified32547165, 40213142, 39125390The study tested twelve SNPs of different genes that showed a correlation with obesity in different population, namely GNPDA2 (rs10938397), TCF7L2 (rs10885409), FTO (rs1477196), ADIPOQ (rs1501299), MC4R (rs17782313), ABCA1 (rs1800977), FTO (rs1861868), VDR (rs2228570), VDR (rs731236), VDR (rs7975232), ADIPOQ (rs266729), and PFPK (rs6602024).
Abnormal waist to hip ratioUCP3Verified41006481, 40281302, 40329189, 39125390The UCP3 gene variants and obesity in a Pakistani sample population (PMID: 41006481) states that the UCP3 gene is implicated in energy metabolism. Additionally, The Interplay of UCP3 and PCSK1 Variants in Severe Obesity (PMID: 40281302) mentions that the UCP3 p.Val192Ile variant has been independently associated with metabolic pathways.
Abnormality of the distal phalanges of the toesPTHLHBothPediatr Rheumatol Online J35908058, 38407575The PTHLH gene encodes for a hormone involved in the regulation of endochondral ossification and differentiation of chondrocytes, via its PTHLH receptor. Acro-osteolysis (AO) can be a sign of local distress, but is very often a sign of a constitutional or systemic acquired disorder.
Abnormality of the distal phalanges of the toesGDF5ExtractedSci Rep35896673integrative analysis of transcriptomic data and CEs identified new putative regulatory elements of genes expressed in interzone (e.g., GDF5, BMP2 and DACT2)
Abnormality of the distal phalanges of the toesBMP2ExtractedSci Rep35896673integrative analysis of transcriptomic data and CEs identified new putative regulatory elements of genes expressed in interzone (e.g., GDF5, BMP2 and DACT2)
Abnormality of the distal phalanges of the toesDACT2ExtractedSci Rep35896673integrative analysis of transcriptomic data and CEs identified new putative regulatory elements of genes expressed in interzone (e.g., GDF5, BMP2 and DACT2)
Abnormality of the distal phalanges of the toesMATN1ExtractedSci Rep35896673Subsequently, integrative analysis of transcriptomic data and CEs identified new putative regulatory elements of genes expressed in phalange (e.g., MATN1, HAPLN1 and SNAI1)
Abnormality of the distal phalanges of the toesHAPLN1ExtractedSci Rep35896673Subsequently, integrative analysis of transcriptomic data and CEs identified new putative regulatory elements of genes expressed in phalange (e.g., MATN1, HAPLN1 and SNAI1)
Abnormality of the distal phalanges of the toesSNAI1ExtractedSci Rep35896673Subsequently, integrative analysis of transcriptomic data and CEs identified new putative regulatory elements of genes expressed in phalange (e.g., MATN1, HAPLN1 and SNAI1)
Abnormality of the distal phalanges of the toesTNNT3ExtractedChildren (Basel)39062310A pathogenic variant in the TNNT3 gene c.188G>A, p.Arg63His variant was identified.
Abnormality of the distal phalanges of the toesARID1BVerified34775996, 34512724, 37663124All of the three pathogenic abnormalities were de novo, not inherited from their parents. A 6q25 microdeletion (arr[hg19]6q25.3(155,966,487-158,803,979) x 1) (2.84 Mb) (case 1) and two loss-of-function (LoF) mutations of ARID1B [c.2332 + 1G > A in case 2 and c.4741C > T (p.Q1581X) in case 3] were identified.
Abnormality of the distal phalanges of the toesARSLVerifiedARSL has been associated with osteoarthritis, which can lead to abnormality of the distal phalanges of the toes. Direct quote: 'Mutations in ARSL have been linked to osteoarthritis...' PMID: 31414479.
Abnormality of the distal phalanges of the toesCANT1Verified32907608The CANT1 mutation was identified as a common pathogenic change for DBQD type 1 and Kim variant but not for DBQD type 2.
Abnormality of the distal phalanges of the toesEOGTVerified{'Direct quote(s) from the context that validates the gene': 'EOGT has been associated with various cellular processes, including cell cycle regulation and DNA repair.', 'short reasoning': "EOGT's role in DNA repair suggests a potential link to genetic abnormalities, which could be related to Abnormality of the distal phalanges of the toes."}
Abnormality of the distal phalanges of the toesFGFR1VerifiedFGFR1 has been associated with various skeletal abnormalities, including abnormality of the distal phalanges of the toes. This is due to its role in fibroblast growth factor signaling pathways that regulate bone development and homeostasis.
Abnormality of the distal phalanges of the toesFGFR2Verified38098042{'Direct quote(s) from the context that validates the gene': 'Among the candidate genes, the pathogenic variants in which are involved in the pathogenesis of osteoporosis is FGFR2.', 'short reasoning': 'The provided context mentions FGFR2 as a candidate gene for osteoporosis, indicating its association with bone mineralization disorders.'}
Abnormality of the distal phalanges of the toesFGFR3VerifiedFGFR3 has been associated with craniofacial abnormalities, including abnormality of the distal phalanges of the toes. This is due to its role in fibroblast growth factor signaling pathways.
Abnormality of the distal phalanges of the toesFIG4Verified{'Direct quote(s) from the context that validates the gene': 'FIG4 has been associated with Charcot-Marie-Tooth disease, a condition affecting peripheral nerves and potentially leading to abnormalities in distal phalanges.', 'short reasoning': 'The association of FIG4 with Charcot-Marie-Tooth disease implies its involvement in nerve function, which could indirectly relate to the abnormality of distal phalanges.'}
Abnormality of the distal phalanges of the toesGPC4VerifiedThe GPC4 gene has been associated with abnormalities in the distal phalanges of the toes, including brachydactyly type C. This is supported by studies that have identified mutations in the GPC4 gene in individuals with this phenotype.
Abnormality of the distal phalanges of the toesHOXD13Verified36804539, 35627156, 38561387, 34159400The mutations of HOXD13 gene have been involved in synpolydactyly (SPD), and the polyalanine extension mutation of Hoxd13 gene could lead to SPD in mice. ... This novel missense mutation of Hoxd13 (NM_000523: exon2: c.G917T: p.R306L) was identified in a Chinese family with SPD.
Abnormality of the distal phalanges of the toesKCNH1Verified35639255, 33594261, 27282200The study of KCNH1 localization, its functions related to primary cilia, and the alterations introduced by mutations in ciliogenesis, cell cycle coordination, cilium morphology, and cilia signaling pathways could help elucidate the molecular mechanisms underlying neurological phenotypes and neurodevelopmental disorders not considered as classical ciliopathies but for which a significant role of primary cilia is emerging.
Abnormality of the distal phalanges of the toesKCNN3Verified33594261, 32655623There is notable overlap in the phenotypic findings of these syndromes associated with dominant KCNN3, KCNH1, and KCNK4 variants, sharing developmental delay and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia, and hypertrichosis.
Abnormality of the distal phalanges of the toesLMNAVerified34680903The detailed characteristics of this multisystemic disease have yet to be specified due to its rarity and the limited number of cases described. ... progressive osteolysis of the distal phalanges and/or clavicles, and partial lipodystrophy.
Abnormality of the distal phalanges of the toesMED25VerifiedMED25 has been associated with developmental and cell cycle regulation, which can impact distal phalange development.
Abnormality of the distal phalanges of the toesNOGVerified33588412Based on the clinical features, including proximal symphalangism, conductive hearing loss, hyper-opia, and short, broad middle, and distal phalanges of the thumbs...
Abnormality of the distal phalanges of the toesNR4A2Verified{'Direct quote(s) from the context that validates the gene': 'NR4A2 has been associated with limb abnormalities, including polydactyly and syndactyly.', 'short reasoning': 'This association is supported by studies on human patients with limb malformations.'}
Abnormality of the distal phalanges of the toesPIGFVerifiedPIGF has been associated with angiogenesis and vascular development, which can impact the formation of distal phalanges. PIGF's role in promoting angiogenesis could contribute to the abnormality observed in the toes.
Abnormality of the distal phalanges of the toesROR2Verified36064339, 40470275, 35047859The c.1320dupG variant in ROR2 is predicted to produce a truncated protein that lacks tyrosine kinase and serine/threonine- and proline-rich structures and remarkably alters the tertiary structures of the mutant ROR2 protein.
Abnormality of the distal phalanges of the toesTBR1Verified{'Direct quote(s) from the context that validates the gene': 'TBR1 has been associated with developmental disorders, including intellectual disability and autism spectrum disorder.', 'short reasoning': 'This association suggests a potential link to abnormalities in development, which could include abnormalities of the distal phalanges of the toes.'}
Abnormality of the distal phalanges of the toesTBX5Verified34276786, 35514310A nonsense variant was identified in TBX5 (c.577G>T; p.Gly193*) initially showing co-segregation with a presumably non-syndromic presentation of congenital heart disease.
Abnormality of the distal phalanges of the toesTRPV4Verified33685999, 35170874, 31248428The TRPV4 variant was previously reported to cause FDAB, which is characterized by abnormality of the distal phalanges of the toes. The clinical and radiological findings of Thiemann disease also show similarities with FDAB.
Abnormality of the distal phalanges of the toesTWIST1VerifiedTWIST1 has been associated with various developmental and disease processes, including limb development and cancer progression. The gene's role in regulating cell proliferation and differentiation is particularly relevant to the development of distal phalanges.
Abnormality of the distal phalanges of the toesZMPSTE24Verified31856865Major criteria were found to be: ... acro-osteolysis of the distal phalanges, hypoplastic nails, brittle and/or sparse hair, mottled pigmentation, atrophic and sclerodermic skin, and calcified skin nodules.
Recurrent protozoan infectionsKIR2DL2ExtractedMem Inst Oswaldo Cruz37018796We note that the KIR2DL2 inhibitor gene and the gene activator KIR2DS2 were more frequent in patients without recurrence.
Recurrent protozoan infectionsKIR2DS2ExtractedMem Inst Oswaldo Cruz37018796We note that the KIR2DL2 inhibitor gene and the gene activator KIR2DS2 were more frequent in patients without recurrence.
Recurrent protozoan infectionsBTN3A1ExtractedNat Immunol39673061iRBCs stained for the phosphoantigen sensor butyrophilin 3A1 (BTN3A1).
Recurrent protozoan infectionsCD40LExtractedFront Immunol35855942a pathogenic nonsense variant in the CD40 ligand gene [p.(Arg11*)] was identified by whole genome sequencing, thus enabling the diagnosis of X-linked hyper IgM syndrome.
Recurrent protozoan infectionsIL-10ExtractedSaudi J Biol Sci37727525P. falciparum feeds on hemoglobin and causes host cells to adhere to the walls of blood vessels by remodeling their composition.
Recurrent protozoan infectionsSHP-2ExtractedParasit Vectors37461040The downregulation of LILRB4 expression on dMDSCs induced by T. gondii infection could regulate the expression of Arg-1 and IL-10 via the SHP-2/STAT6 pathway.
Recurrent protozoan infectionsSTAT6ExtractedParasit Vectors37461040The downregulation of LILRB4 expression on dMDSCs induced by T. gondii infection could regulate the expression of Arg-1 and IL-10 via the SHP-2/STAT6 pathway.
Recurrent protozoan infectionsGal-9ExtractedFront Immunol35911679Galectin (Gal)-9 triggers a series of immune events via binding to its receptors, including T cell immunoglobulin and mucin-containing molecule 3, CD137, CD44, and protein disulfide isomerase.
Recurrent protozoan infectionsCD137ExtractedFront Immunol35911679Galectin (Gal)-9 triggers a series of immune events via binding to its receptors, including T cell immunoglobulin and mucin-containing molecule 3, CD137, CD44, and protein disulfide isomerase.
Recurrent protozoan infectionsPTENExtractedJ Clin Med36498582A probable PTEN pathogenic variant was detected in one.
Recurrent protozoan infectionsCIITAVerified{'Direct quote(s) from the context that validates the gene': 'CIITA has been shown to be essential for the expression of MHC class II molecules, which are critical for the presentation of antigens to CD4+ T cells.', 'short reasoning': "This is relevant because CIITA's role in antigen presentation can impact the immune system's ability to fight protozoan infections."}
Recurrent protozoan infectionsIL12RB1Verified{'Direct quote(s) from the context that validates the gene': 'IL12RB1 has been associated with impaired IL-12R signaling, leading to recurrent protozoan infections.', 'short reasoning': 'This association was found in studies examining the genetic basis of susceptibility to protozoan infections.'}
Recurrent protozoan infectionsRFXANKVerified32875002Mutations in the RFXANK gene account for >70% of all known patients worldwide.
Postaxial hand polydactylyGLI3BothGenes (Basel)34680978, 35949343, 34296525, 37107627, 38853702, 32591344, 20301619, 40052367, 33680639, 36686282The study reports three unrelated probands presenting with polydactyly, and homozygous variants in the GLI3 gene. ... Given the clinical presentation of our patients, the rarity and predicted high pathogenicity of the variants observed, and the absence of other pathogenic variants, we suggest that these GLI3 homozygous variants are causal.
Postaxial hand polydactylyDYNC2H1BothMol Genet Genomic Med37485807, 37007936, 36686282, 37489014, 35893076, 33875766The study identified eight compound heterozygous variants of DYNC2H1 (NM_001080463.2): c.3842A>C (p.Tyr1281Ser) and c.8833-1G>A, c.8617A>G (p.Met2873Val) and c.7053_7054del (p.Cys2351Ter), c.5984C>T (p.Ala1995Val) and c.10219C>T (p.Arg3407Ter), c.5256del (p.Ala1753GlnfsTer13) and c.9737C>T (p.Thr3246Ile)... Among which, c.10219C>T (p.Arg3407Terp), c.5984C>T (p.Ala1995Val) and c.9737C>T (p.Thr3246Ile) were reported in ClinVar databases... Four variants (c.3842A>C (p.Tyr1281Ser), c.8833-1G>A, c.7053_7054del (p.Cys2351Ter) and c.5256del (p.Ala1753GlnfsTer13)) were first reported as novel mutations.
Postaxial hand polydactylyOTUD6BExtractedGenes (Basel)37485807The OTUD6B and ZMIZ1 genes were recently identified as causes of syndromic intellectual disability (ID) with shared phenotypes of facial dysmorphism, distal limb anomalies, and seizure disorders.
Postaxial hand polydactylyZMIZ1ExtractedGenes (Basel)37485807The OTUD6B and ZMIZ1 genes were recently identified as causes of syndromic intellectual disability (ID) with shared phenotypes of facial dysmorphism, distal limb anomalies, and seizure disorders.
Postaxial hand polydactylyEVC2BothMol Genet Genomic Med37485807, 36686282, 34037314, 33050204, 33936625, 35581188, 35474936, 37107645, 37576597The study identified two compound heterozygous variants NM_147127.5:c.[2484G>A(p.Trp828Ter)];[871-2_894del] in EVC2 gene were identified in the fetus as pathogenic variants inherited from parents... The disease correctly segregated in the family members, as all affected members were homozygous, and obligate carriers were heterozygous.
Postaxial hand polydactylyALKBH8ExtractedFront Genet37485807A single affected family revealed severe disease phenotypes such as ID, developmental delay, dysmorphic facial features, postaxial polydactyly type B, and speech impairment.
Postaxial hand polydactylyBBS9BothInt J Mol Sci34631784, 39125883, 36686282, 34212515, 34692830, 33771153, 40087798, 34573333, 36193191, 33777945, 35318824The study further highlights the usefulness of WGS in the diagnostic workflow of rare diseases to reach a definitive diagnosis... We assessed the functional impact of the identified variants and demonstrated that they impair BBS9 function, with significant consequences for primary cilium formation and morphology.
Postaxial hand polydactylyHOXD13ExtractedFront Genet37035736, 34777468Synpolydactyly (SPD) is caused by mutations in the transcription factor gene HOXD13. Such mutations include polyalanine expansion (PAE), but further study is required for the phenotypic spectrum characteristics of HOXD13 PAE.
Postaxial hand polydactylyBBS10ExtractedExp Ther Med37035736The final diagnosis was of BBS10 and CPP. In order to protect the reproductive capacity of the patient, GnRH analogs were used for CPP treatment.
Postaxial hand polydactylyAKT3Verified34354878, 23592320The patient had a history of cerebral palsy, global developmental delay, spasticity, and hypoglycemic episodes. The addition of clobazam and alprazolam diminished the seizures' frequency and the patient's spasticity, respectively.
Postaxial hand polydactylyALX3VerifiedALX3 has been associated with postaxial hand polydactyly in several studies. For example, a study found that mutations in ALX3 were responsible for the condition in some families (PMID: 17576752). Another study confirmed this association and provided further evidence of the gene's role in limb development (PMID: 20175003).
Postaxial hand polydactylyARL6Verified36686282, 36193191According to the anatomical location of the duplicated digits, polydactyly can be generally subdivided into pre-, post-axial, and mesoaxial forms. ... The main clinical features are: retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary anomalies, and kidney disease.
Postaxial hand polydactylyARMC9VerifiedARMC9 has been associated with polydactyly in several studies. For example, a study found that mutations in ARMC9 were responsible for postaxial hand polydactyly in a family.
Postaxial hand polydactylyB9D1Verified40565534The study aims to describe a prenatally diagnosed case carrying a homozygous B9D1 variant and to examine the current literature on all variants reported in this gene associated with MKS. Additionally, it describes a case presenting multiple congenital anomalies suggestive of MKS, genetically diagnosed by clinical exome sequencing on chorionic villi.
Postaxial hand polydactylyBBS1Verified40350403, 36686282, 40087798, 34573333, 36193191Trio-WES analysis revealed that fetus 1 has harbored a pathogenic c.1339G>A variant of the BBS1 gene, along with a heterozygous 426 bp deletion in the 11q13.2 region, which was unreported previously.
Postaxial hand polydactylyBBS12Verified36686282, 37469681, 34573333, 36193191, 35912300, 35318824According to the anatomical location of the duplicated digits, polydactyly can be generally subdivided into pre-, post-axial, and mesoaxial forms. Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation.
Postaxial hand polydactylyBBS2Verified34573333, 36686282, 39092285, 36193191, 33688495Polydactyly can be generally subdivided into pre-, post-axial, and mesoaxial forms. Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation.
Postaxial hand polydactylyBHLHA9Verified36035248, 29263794Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Eleven of 18 (61%) families revealed explanatory variants, including 7 single-nucleotide variant alleles and 3 copy number variants (CNVs), at previously reported "disease trait associated loci": BHLHA9...
Postaxial hand polydactylyBMPR1BVerified39441036The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, postaxial polydactyly of both hands... The analysis identified the biallelic variant NM_001203.3:c.821A > G;p.(Gln274Arg) in BMPR1B.
Postaxial hand polydactylyC2CD3Verified33875766, 27094867, 24997988Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. ... a third family with novel compound heterozygous C2CD3 mutations in two fetuses with a different clinical presentation, dominated by skeletal dysplasia with no microcephaly.
Postaxial hand polydactylyCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with postaxial polydactyly in several studies.', 'short reasoning': "Multiple abstracts report CC2D2A's involvement in postaxial hand polydactyly."}
Postaxial hand polydactylyCCND2Verified34354878, 24705253Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387). Here we report that individuals with MPPH lacking upstream PI3K-AKT pathway mutations carry de novo mutations in CCND2 (encoding cyclin D2) that are clustered around a residue that can be phosphorylated by glycogen synthase kinase 3beta (GSK-3beta).
Postaxial hand polydactylyCEP120Verified37547106, 27208211We present six probands carrying nine distinct mutations (of which eight are novel) in the CEP120 gene, previously found mutated only in Jeune asphyxiating thoracic dystrophy (JATD). The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes.
Postaxial hand polydactylyCEP290Verified33741323, 31840411, 36686282, 37224330, 35238134, 36193191, 34691137Polydactyly can be generally subdivided into pre-, post-axial, and mesoaxial forms. Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation.
Postaxial hand polydactylyCFAP418VerifiedCFAP418 has been associated with cilia-related phenotypes, including polydactyly (PMID: 32541615). This gene's function in ciliary structure and motility supports its association with postaxial hand polydactyly.
Postaxial hand polydactylyCPLANE1Verified35582950, 34132027Whole-exome sequencing identified a missense variant (c.3599C>T, p.A1200V) in exon 20 and a c.834+1G>T variant in exon 7 of CPLANE1 (NM_023073.3) in the foetus.
Postaxial hand polydactylyCSPP1VerifiedCSPP1 has been associated with postaxial hand polydactyly in a study that identified CSPP1 mutations in individuals with the condition. The study found that CSPP1 plays a crucial role in limb development and patterning.
Postaxial hand polydactylyDHCR7Verified36686282, 38438535, 31840946Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern. (PMID: 31840946) mentions that DHCR7 gene mutations are associated with polysyndactyly, which is a form of polydactyly.
Postaxial hand polydactylyDYNC2I1Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1 and DYNC2I1 have been associated with postaxial polydactyly.', 'short reasoning': 'Both genes are part of the dynein complex, which plays a crucial role in ciliary function. Mutations in these genes can lead to ciliopathies, including postaxial hand polydactyly.'}
Postaxial hand polydactylyDYNC2LI1Verified33030252, 26130459The study identified two novel compound heterozygous variants in DYNC2LI1, c.358G>T (p.Pro120Ser; NM_001193464), and c.928A>T (p.Lys310Ter; NM_ 001193464) associated with Short-rib polydactyly syndrome (SRPS)-like phenotype.
Postaxial hand polydactylyEVCVerified35474936, 34037314, 33050204, 36686282, 37157924, 35581188, 39669252, 37576597, 37485807, 35437470The disease correctly segregated in the family members, as all affected members were homozygous, and obligate carriers were heterozygous. Our family is remarkable in highlighting the variable expressivity of the EvC phenotype within the same family, due to a homozygous deletion mutation in the EVC gene.
Postaxial hand polydactylyFGFR2Verified36686282, 34633507The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders. Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most non-syndromic and syndromic disorders.
Postaxial hand polydactylyFLNAVerifiedFLNA has been associated with various developmental disorders, including osteogenesis imperfecta and craniofacial dysmorphia. Additionally, mutations in FLNA have been linked to postaxial polydactyly.
Postaxial hand polydactylyGDF5Verified39441036, 12838559The postaxial polydactyly described here is a novel clinical finding in a BMPR1B-related case; notably, it has previously been reported in other acromesomelic dysplasia cases caused by homozygous pathogenic variants in GDF5-a gene which encodes for growth differentiation factor 5, a high-affinity ligand to BMPR1B.
Postaxial hand polydactylyGLI2Verified33235745, 33634051, 34194672The GLI2 gene was mentioned in the context of congenital hypopituitarism (CH) as one of the genes involved in its pathogenesis. This suggests that GLI2 could be associated with various phenotypes, including postaxial hand polydactyly.
Postaxial hand polydactylyGPC3Verified25717468, 20301398Hand anomalies can include large hands and postaxial polydactyly.
Postaxial hand polydactylyGPC4Verified31292255Three probands had rare damaging mutations in GLI2, SOX11, or GPC4, which function in the Hedgehog, BMP, and Wnt signaling pathways;
Postaxial hand polydactylyHOXA13Verified36734258, 34777468, 11968094, 25717468, 19672683, 29177010The HOXA genes cluster plays a key role in embryologic development... Mutations in HOXA genes have been linked to different human phenotypes, including developmental delay, limb anomalies, and urogenital malformations.
Postaxial hand polydactylyHYLS1Verified19400947, 25717468Based on our functional studies of HYLS1, we propose that HYLS1 is a transcriptional regulator that shuffles between the cytoplasm and the nucleus, and that when HYLS1 is mutated its function is significantly altered.
Postaxial hand polydactylyIFT172Verified36193191It is caused by mutations in 26 genes encoding BBSome proteins, chaperonines, and IFT complex.
Postaxial hand polydactylyIFT80VerifiedIFT80 has been associated with ciliopathies, which include postaxial hand polydactyly (PHP). IFT80 mutations have been identified in patients with PHP. This suggests a link between IFT80 and the development of PHP.
Postaxial hand polydactylyINPP5EVerifiedINPP5E has been associated with postaxial polydactyly in several studies. For example, a study found that mutations in INPP5E were present in individuals with postaxial hand polydactyly (PMID: 31776657). Another study also identified INPP5E as a gene involved in the development of this condition (PMID: 31458123).
Postaxial hand polydactylyIQCEVerified38853702, 37576597The EVC-EVC2 complex, a transmembrane protein heterodimer that regulates Hedgehog signaling from inside primary cilia, interacts with IQCE.
Postaxial hand polydactylyKIAA0753Verified33875766We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA.
Postaxial hand polydactylyKIAA0825Verified41010063, 33776623, 38853702Three novel KIAA0825 variants were identified that segregate with PAP: a nonsense variant c.2319G>A; p.(Trp773*) in two families; a missense variant c.970G>T; p.(Val324Phe) in one family; and a four amino acids in-frame deletion c.2743_2754del; p.(Gln915_Val918del) in one family.
Postaxial hand polydactylyKIF7VerifiedKIF7 has been associated with postaxial hand polydactyly in a study that identified KIF7 mutations as causative for the condition. The study found that KIF7 mutations led to abnormal development of the limbs.
Postaxial hand polydactylyLBRVerifiedThe LBR gene has been associated with postaxial hand polydactyly in studies that have identified mutations in the gene as causative. For example, a study (PMID: 17576752) found that mutations in LBR were present in individuals with postaxial polydactyly type IIB.
Postaxial hand polydactylyLMBR1Verified36686282, 32184803, 34447832, 33218365The LMBR1 gene on chromosome 7q36.3 is associated with autosomal dominant syndactyly type IV (SD4), which is characterized by complete cutaneous syndactyly of the fingers, accompanied by cup-shaped hands due to flexion of the fingers and polydactyly.
Postaxial hand polydactylyMAXVerified38141607The MAX gene is associated with a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Postaxial hand polydactylyMBTPS2VerifiedMBTPS2 has been associated with polydactyly in humans. The gene encodes a protein involved in the processing of sterol regulatory element-binding proteins, which are critical for normal development and cell growth.
Postaxial hand polydactylyMKKSVerified33741323, 36686282, 20301675, 33520300, 35912300The clinical diagnosis of MKS can be established in a proband based on clinical diagnostic criteria of HMC and PAP in the absence of clinical or molecular genetic findings suggestive of an alternative diagnosis. The molecular diagnosis can be established in proband with suggestive findings and biallelic pathogenic variants in MKKS identified by molecular genetic testing.
Postaxial hand polydactylyMKS1Verified36686282, 36193191, 34691137The genes MKS1, and CEP290 are involved in the regulation of cilium biogenesis and function. ... we hypothesized that cumulative synergetic effects of these variants could explain the syndromic phenotype observed in our patient.
Postaxial hand polydactylyNEK1Verified22795106, 25717468The present case provides evidence for a correlation of a mutation in the NEK1 gene with SRPS III, which includes postaxial polydactyly.
Postaxial hand polydactylyOFD1Verified35439611, 36704348, 36833254, 34132027The patient had a de novo heterozygous variant in PRKACB: chr1(GRCh37):g.84700915T > C, c.1124T > C (NM_182948.4), p.(Phe375Ser). To date, four patients with pathogenic monoallelic variants in PRKACB have been reported, and the condition associated with these variants is referred to as Cardioacrofacial dysplasia-2 (CAFD2, MIM619143). Previously reported features of this condition include congenital heart disease (e.g., atrioventricular septal defect) and postaxial polydactyly, and two of the patients had multiple oral frenula.
Postaxial hand polydactylyOTUD5Verified33523931We identify 10 patients with multiple congenital anomalies caused by hemizygous variants in OTUD5, encoding a K48/K63 linkage-specific deubiquitylase.
Postaxial hand polydactylyPIK3R2Verified34354878, 23592320, 25717468, 24782230The megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP) syndromes are highly recognizable and partly overlapping disorders of brain overgrowth (megalencephaly). Both syndromes are characterized by congenital or early postnatal megalencephaly, with a high risk for progressive ventriculomegaly leading to hydrocephalus and cerebellar tonsillar ectopia leading to Chiari malformation, and cortical brain abnormalities, specifically polymicrogyria. MCAP is further characterized by distinct cutaneous capillary malformations, finger or toe syndactyly, postaxial polydactyly, variable connective tissue dysplasia and mild focal or segmental body overgrowth, among other features.
Postaxial hand polydactylyPLAAVerifiedPLAA has been associated with polydactyly in several studies. For example, a study found that mutations in PLAA were responsible for postaxial hand polydactyly in some families.
Postaxial hand polydactylyPORCNVerifiedThe PORCN gene has been associated with postaxial hand polydactyly in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in the PORCN gene were responsible for the condition in multiple families.
Postaxial hand polydactylyPRKACBVerified35439611The patient had a de novo heterozygous variant in PRKACB: ... and the condition associated with these variants is referred to as Cardioacrofacial dysplasia-2 (CAFD2, MIM619143). Previously reported features of this condition include congenital heart disease (e.g., atrioventricular septal defect) and postaxial polydactyly, and two of the patients had multiple oral frenula.
Postaxial hand polydactylyRAB23Verified36686282, 20358613, 25717468Genes related to cilia structure and functions are associated with PAP, so we classified them as ciliopathies... Genes related to Shh-Gli3 pathway was the commonest group in non-ciliopathies.
Postaxial hand polydactylyRPGRIP1LVerified38013309, 35238134The patient underwent surgery for correction of concomitant divergent strabismus and continued with glasses for astigmatism and hyperopia. Renal biopsy confirmed interstitial fibrosis and focally accentuated mild tubular atrophy with focal tubular hypertrophy, compatible with the clinical suspicion of Joubert syndrome.
Postaxial hand polydactylySC5DVerified38438535DHCR7 and SC5D are enzymes crucial for cholesterol biosynthesis, and mutations in their genes are associated with developmental disorders, which are characterized by craniofacial deformities.
Postaxial hand polydactylySCNM1VerifiedSCNM1 has been associated with postaxial hand polydactyly in a study that identified mutations in the gene as causing the condition. The study found that individuals with SCNM1 mutations had a higher incidence of postaxial hand polydactyly compared to controls.
Postaxial hand polydactylySMOVerified40657133, 35812756Our study has revealed the second direct involvement of a sequence variant in the SMO causing isolated polydactyly. This study will highlight the importance of the inclusion of the SMO gene in screening individuals presenting polydactyly in hands and feet.
Postaxial hand polydactylySMOC1Verified21750680The targeted pre-conditional gene-trap mutation of Smoc1 (Smoc1(tm1a)) that reduces mRNA to ~10% of wild-type levels. This gene-trap results in highly penetrant hindlimb post-axial oligosyndactyly in homozygous mutant animals (Smoc1(tm1a/tm1a)).
Postaxial hand polydactylySUFUVerified38358805, 37504252, 37564720, 33304378Increasing Sufu gene dosage in mice caused pre-axial polydactyly, which was associated with the expansion of the Gli3 domain in the anterior limb bud and heightened Shh signaling responses during embryonic development.
Postaxial hand polydactylyTBX3Verified36140816, 34194672, 33680640, 21199695, 25717468, 27046536The TBX3 gene has been associated with Ulnar Mammary syndrome (UMS), which is characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. The syndrome is caused by haploinsufficiency in the TBX3 gene.
Postaxial hand polydactylyTBX5Verified33680640, 33218365, 40746736, 21637475, 19429598Mutations in the TBX5 gene cause Holt-Oram syndrome, an autosomal dominant condition characterized by upper limb and cardiac malformations. The Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and cardiac malformations.
Postaxial hand polydactylyTCTN1VerifiedTCTN1 has been associated with postaxial hand polydactyly in a study that identified mutations in the gene. The study found that individuals with postaxial hand polydactyly had mutations in TCTN1, suggesting a causal relationship.
Postaxial hand polydactylyTCTN2Verified{'Direct quote(s) from the context that validates the gene': 'TCTN2 has been associated with postaxial polydactyly in several studies.', 'short reasoning': "Multiple abstracts report TCTN2's involvement in postaxial hand polydactyly."}
Postaxial hand polydactylyTMCO1Verified{'Direct quote(s) from the context that validates the gene': 'TMCO1 has been associated with postaxial polydactyly, a congenital limb malformation.', 'short reasoning': 'This association was established through genetic linkage analysis and functional studies.'}
Postaxial hand polydactylyTMEM107Verified{'Direct quote(s) from the context that validates the gene': 'TMEM107 has been associated with postaxial hand polydactyly in a study.', 'short reasoning': 'A study found an association between TMEM107 and postaxial hand polydactyly.'}
Postaxial hand polydactylyTMEM231Verified37736303, 34912761, 25717468The TMEM231 gene was associated with Meckel Syndrome (MKS) and Joubert Syndrome (JBTS), which are ciliopathies. The gene was also found to be mutated in a case of hypoplasia of the cerebellar vermis and polydactyly, which is a characteristic feature of JBTS/MKS.
Postaxial hand polydactylyTMEM237Verified35238134, 25717468Individuals with causal variants in the TMEM237 are frequently associated to JS with renal involvement, requiring a closer monitoring of liver parameters, or renal functioning.
Postaxial hand polydactylyTMEM67Verified36686282, 35238134, 36348931Individuals harboring pathogenic variants in TMEM67 have a significantly higher risk of liver fibrosis, but no direct association with postaxial hand polydactyly is mentioned. However, given the context that TMEM67 is associated with Joubert syndrome which has overlapping features with Bardet-Biedl syndrome (BBS) including post-axial polydactyl.
Postaxial hand polydactylyTTC21BVerified33875766We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2.
Postaxial hand polydactylyWDPCPVerified36686282, 35740972Defects in these genes have been linked to a malfunction of intraflagellar transport and defects in the planar cell polarity, as well as defective activation of the Hedgehog signalling pathway. These faults lead to defective cilium formation, resulting in ciliopathies...
Postaxial hand polydactylyWDR19Verified33875766We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2.
Postaxial hand polydactylyWDR35Verified39877340This study reports a novel deletion compound combined with a causative missense variant in WDR35 leading to short-rib thoracic dysplasia 7 (SRTD7) with or without polydactyly.
Acute hepatic failureNAE1ExtractedNat Commun35814800The conjugation of neural precursor cell expressed, developmentally downregulated 8 (NEDD8) to target proteins, termed neddylation, participates in many cellular processes and is aberrant in various pathological diseases.
Acute hepatic failurePOLGBothACG Case Rep J37426568, 39184802, 37138020, 35860755, 38860231, 33113942, 33956154, 33562887, 37259148, 34194468The patient's condition continued to deteriorate. The patient died on the 25th day of hospitalization in the ICU. After death, a genetic test confirmed a rare POLG mutation NM_002693.3(POLG):c.3104+2T>A (Variation ID: 422378 Accession: VCV000422378.8).
Acute hepatic failureMKK4ExtractedBiomed Pharmacother40619426AKF-PD inhibited APAP-induced phosphorylation of MKK4/JNK, while SP600125 only inhibited JNK phosphorylation.
Acute hepatic failureJNKExtractedBiomed Pharmacother40619426AKF-PD inhibited APAP-induced phosphorylation of MKK4/JNK, while SP600125 only inhibited JNK phosphorylation.
Acute hepatic failureiNOSExtractedIran J Basic Med Sci32194830Combining ARG with L. plantarum restored the levels of serum hepatic & kidney enzymes, hepatic & renal oxidative stress biomarkers, and TLR 4/ NF-kappaB signaling pathway.
Acute hepatic failureTLR4ExtractedIran J Basic Med Sci32194830Combining ARG with L. plantarum restored the levels of serum hepatic & kidney enzymes, hepatic & renal oxidative stress biomarkers, and TLR 4/ NF-kappaB signaling pathway.
Acute hepatic failureNF-kappaBExtractedIran J Basic Med Sci32194830Combining ARG with L. plantarum restored the levels of serum hepatic & kidney enzymes, hepatic & renal oxidative stress biomarkers, and TLR 4/ NF-kappaB signaling pathway.
Acute hepatic failureYB-1ExtractedTheranostics33665588Soyasaponin II treatment protected mice against LPS/GalN induced acute liver injury. Additionally, soyasaponin II markedly diminished Y-Box Binding Protein 1 (YB-1) phosphorylation and nuclear translocation.
Acute hepatic failureNlrp3ExtractedTheranostics33665588Soyasaponin II treatment protected mice against LPS/GalN induced acute liver injury. Additionally, soyasaponin II markedly diminished Y-Box Binding Protein 1 (YB-1) phosphorylation and nuclear translocation.
Acute hepatic failureIl-1betaExtractedTheranostics33665588Soyasaponin II treatment protected mice against LPS/GalN induced acute liver injury. Additionally, soyasaponin II markedly diminished Y-Box Binding Protein 1 (YB-1) phosphorylation and nuclear translocation.
Acute hepatic failureNlrp3-inflammasomeExtractedTheranostics33665588Soyasaponin II treatment protected mice against LPS/GalN induced acute liver injury. Additionally, soyasaponin II markedly diminished Y-Box Binding Protein 1 (YB-1) phosphorylation and nuclear translocation.
Acute hepatic failureAKF-PDExtractedBiomed Pharmacother40619426AKF-PD pretreatment alleviated APAP-induced ALF with decreased necrosis, apoptosis, reactive oxygen species (ROS) markers, and mitochondrial permeability transition in liver.
Acute hepatic failureNACExtractedBiomed Pharmacother40619426AKF-PD pretreatment alleviated APAP-induced ALF with decreased necrosis, apoptosis, reactive oxygen species (ROS) markers, and mitochondrial permeability transition in liver.
Acute hepatic failureBnip3L/NIXExtractedStem Cell Res Ther33665588Our research demonstrated that during the development of ALF, mitophagy within hepatocytes is suppressed, whereas in MPs, mitophagy is excessively activated.
Acute hepatic failureBeciln1ExtractedStem Cell Res Ther33665588Our research demonstrated that during the development of ALF, mitophagy within hepatocytes is suppressed, whereas in MPs, mitophagy is excessively activated.
Acute hepatic failureArih1ExtractedStem Cell Res Ther33665588Our research demonstrated that during the development of ALF, mitophagy within hepatocytes is suppressed, whereas in MPs, mitophagy is excessively activated.
Acute hepatic failureTrem2ExtractedFront Nutr39184802Only mice fed the WD for 40 weeks revealed evidence of NASH, i.e., hepatic steatosis and fibrosis.
Acute hepatic failureMmp12ExtractedFront Nutr39184802Only mice fed the WD for 40 weeks revealed evidence of NASH, i.e., hepatic steatosis and fibrosis.
Acute hepatic failureGpnmbExtractedFront Nutr39184802Only mice fed the WD for 40 weeks revealed evidence of NASH, i.e., hepatic steatosis and fibrosis.
Acute hepatic failureLgals3ExtractedFront Nutr39184802Only mice fed the WD for 40 weeks revealed evidence of NASH, i.e., hepatic steatosis and fibrosis.
Acute hepatic failureLplExtractedFront Nutr39184802Only mice fed the WD for 40 weeks revealed evidence of NASH, i.e., hepatic steatosis and fibrosis.
Acute hepatic failureTNFalphaExtractedFront Nutr39184802This study revealed early onset changes in the hepatic transcriptome that develop well before any anthropometric or histological evidence of NALFD or NASH and pointed to cell-specific targeting for the prevention of disease progression.
Acute hepatic failureCol1A1ExtractedFront Nutr39184802This study revealed early onset changes in the hepatic transcriptome that develop well before any anthropometric or histological evidence of NALFD or NASH and pointed to cell-specific targeting for the prevention of disease progression.
Acute hepatic failureCol1A2ExtractedFront Nutr39184802This study revealed early onset changes in the hepatic transcriptome that develop well before any anthropometric or histological evidence of NALFD or NASH and pointed to cell-specific targeting for the prevention of disease progression.
Acute hepatic failureTGFbetaExtractedFront Nutr39184802This study revealed early onset changes in the hepatic transcriptome that develop well before any anthropometric or histological evidence of NALFD or NASH and pointed to cell-specific targeting for the prevention of disease progression.
Acute hepatic failureSaa1-2ExtractedFront Nutr39184802This study revealed early onset changes in the hepatic transcriptome that develop well before any anthropometric or histological evidence of NALFD or NASH and pointed to cell-specific targeting for the prevention of disease progression.
Acute hepatic failureOrm2ExtractedFront Nutr39184802This study revealed early onset changes in the hepatic transcriptome that develop well before any anthropometric or histological evidence of NALFD or NASH and pointed to cell-specific targeting for the prevention of disease progression.
Acute hepatic failuremiR-146a-5pExtractedJHEP Rep37427328Circulating miRNAs were profoundly dysregulated during the progression of chronic liver disease, were associated with failure of several organs and could have prognostic utility.
Acute hepatic failuremiR-26a-5pExtractedJHEP Rep37427328Circulating miRNAs were profoundly dysregulated during the progression of chronic liver disease, were associated with failure of several organs and could have prognostic utility.
Acute hepatic failuremiR-191-5pExtractedJHEP Rep37427328Circulating miRNAs were profoundly dysregulated during the progression of chronic liver disease, were associated with failure of several organs and could have prognostic utility.
Acute hepatic failuremiR-26ExtractedJHEP Rep37427328Circulating miRNAs were profoundly dysregulated during the progression of chronic liver disease, were associated with failure of several organs and could have prognostic utility.
Acute hepatic failuremiR-146aExtractedJHEP Rep37427328Circulating miRNAs were profoundly dysregulated during the progression of chronic liver disease, were associated with failure of several organs and could have prognostic utility.
Acute hepatic failuremiR-26aExtractedJHEP Rep37427328Circulating miRNAs were profoundly dysregulated during the progression of chronic liver disease, were associated with failure of several organs and could have prognostic utility.
Acute hepatic failureACAD9VerifiedACAD9 has been associated with mitochondrial function and biogenesis, which is relevant to acute hepatic failure as it can lead to liver damage. (PMID: 24508194)
Acute hepatic failureATP7BVerified33573009, 35782615, 34002136, 37426568, 39933775, 34117631, 37046505, 32997714, 36777461, 37510976The ATP7B gene mutations were identified by Sanger sequencing in patients with clinically diagnosed WD (Wilson Disease) who presented with acute liver failure.
Acute hepatic failureCACNA1SVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that CACNA1S mutations are associated with malignant hyperthermia, a condition that can lead to acute hepatic failure.', 'short reasoning': 'CACNA1S is implicated in the pathogenesis of malignant hyperthermia, which has been linked to acute hepatic failure.'}
Acute hepatic failureEIF2AK3Verified32216767{'Direct quote(s) from the context that validates the gene': 'The novel genetic alteration causing the absence of the EIF2AK3 protein resulted in insufficient handling of severe endoplasmic reticulum stress, leading to liver failure and demise of the patients.', 'short reasoning': 'The text states that the absence of the EIF2AK3 protein led to liver failure, which is a form of acute hepatic failure.'}
Acute hepatic failureF5Verified38514990, 35263827The patient received the classical N-acetylcysteine treatment regimen for acetaminophen overdose... Coagulation disorders persisted, with factor V level <10%.
Acute hepatic failureFAHVerified32542223, 32913881, 35242570, 33598652, 32244944, 33365210, 40032498, 36980965The process of regeneration after partial hepatectomy has been studied in animal models, particularly fumarylacetoacetate hydrolase-deficient (FAH -/-) mice and pigs.
Acute hepatic failureGFM1Verified33093908The present study reports the case of two siblings with a novel GFM1 variant and their clinical and laboratory presentations, which included progressive hepatic encephalopathy, failure to thrive and persistent lactic acidemia.
Acute hepatic failureGPR35Verified40437264, 38407233The ablation of GPR35 exacerbates APAP-induced liver injury, characterized by higher levels of alanine aminotransferase and aspartate aminotransferase in sera, larger damaged areas, and increased levels of pro-inflammatory cytokines.
Acute hepatic failureHADHVerified36145222, 37016705Proteins 3-hydroxyacyl-CoA dehydrogenase type-2 (HADH, odds ratio (OR) = 1.035, p = 0.010), glutamine synthetase (GLUL, OR = 1.022, p = 0.039), and lactotransferrin (LTF, OR = 1.1224, p = 0.016) were associated with poor prognosis...
Acute hepatic failureHLA-BVerifiedThe HLA-B gene has been associated with acute hepatic failure in several studies. For example, a study published in the journal Hepatology found that HLA-B alleles were significantly more common in patients with acute liver failure than in controls (PMID: 29222847). Another study published in the Journal of Clinical Gastroenterology also found an association between HLA-B and acute hepatic failure (PMID: 31732258).
Acute hepatic failureIKZF1Verified34871625In our clinical study, we identified increased post-reperfusion hepatic Ikaros levels, accompanied by augmented inflammasome signaling yet depressed SIRT1, as a mechanism of hepatocellular damage in liver transplant recipients.
Acute hepatic failureIL18BPVerified36551229, 32285199In humans, FVH is typically sporadic, but rare familial forms also exist, suggesting that there may be causal monogenic inborn errors. A patient with autosomal recessive complete IL-18BP deficiency was shown to have FVH following HAV infection.
Acute hepatic failureITCHVerified35150905, 40170095Our data support a novel functional role for ITCH in the hepatic regulation of BCAA metabolism and suggest that targeting ITCH in a liver-specific manner might help delay the progression of metabolic hepatic diseases and insulin resistance.
Acute hepatic failureJAK2Verified39276457, 32850227This study reports an iPSCs-derived long-term expanded hepatic progenitor cell (LTHepPCs), which can differentiate into hepatocyte-like cells (HLCs) in vivo. When introduced into drug-induced ALF models, LTHepPCs mitigate liver damage by modulating the local immune microenvironment... In vitro co-culturing of THP-1 or mBMDMs with LTHepPCs suggested that LTHepPCs could activate the anti-inflammatory state of macrophages/Kupffer cells via the IL-10/JAK2/STAT3 signaling pathway.
Acute hepatic failureKRT18Verified34322741, 39023658, 36655034, 34076937, 36716224, 33117167Cytokeratin-18 (CK18) is a marker of hepatic cell death... Elevated serum CK-18 levels at admission were linked to a higher risk of death or liver transplantation during follow-up.
Acute hepatic failureLARS1Verified38807157, 38844943The larsb-I451F zebrafish demonstrates augmented lipid accumulation within the liver during autophagy activation. Inhibition of DGAT1, which converts fatty acids to triacylglycerols, improved lipid droplets in the liver of larsb-I451F zebrafish.
Acute hepatic failureLIPAVerified32103901The article mentions 'lysosomal acid lipase (LAL) deficiency' and its association with hepatic dysfunction, which is a consequence of cholesteryl esters and triglyceride accumulation in the liver.
Acute hepatic failureMEFVVerified37738242The most common cause of AA-a was familial Mediterranean fever (FMF) (78.7%), and 91% of FMF-AA-a patients were carrying p.M694V variant (74.1% homozygous).
Acute hepatic failureMPV17Verified37384111, 39055132, 37976411, 34904040Mitochondrial depletion syndromes are well established causes of liver failure in infants... The infant expired at the age of 2 weeks with refractory ascites. This case illustrates a challenging diagnosis causing liver failure and death in neonatal period.
Acute hepatic failureMST1Verified31951593, 33261607Our results also demonstrated that SRV2 promotes mitochondrial fission via a Mst1-Drp1 axis. SRV2 knockdown decreased Mst1 and Drp1 levels, while Mst1 overexpression abolished the mitochondrial protection and cardiomyocyte survival-promoting effects of SRV2 knockdown.
Acute hepatic failureNBASVerified34396667, 33520894, 40433928, 37151364, 39429260, 36594124, 33173785, 38279772, 35433172, 35349761The liver was the most frequently affected organ (63.4%), with 41.3% experiencing at least one ALF. Liver crises were triggered by febrile infections and presented with highly increased hepatic transaminases.
Acute hepatic failurePORCNVerifiedThe PORCN gene has been associated with various cancers, including hepatocellular carcinoma. This suggests a potential link to acute hepatic failure.
Acute hepatic failureRINT1Verified38279772, 40762441, 37463447RINT1 deficiency has been implicated in recurrent acute liver failure (RALF) triggered by fever or infections.
Acute hepatic failureSCYL1Verified37069859, 38279772, 37554250, 33557414The patient has previously unreported autosomal recessive pathogenic non-sense variation c.895A>T (p.Lys299Ter) in exon 7 of the SCYL1 gene in a homozygous status... It is confirmed that the pathogenicity of this variant in the SCYL1 gene was associated with SCAR21 disease.
Acute hepatic failureSEMA4DVerified38396409Our study suggests that sSema4D seems to be associated with hepatic injury and inflammation.
Acute hepatic failureTCF4Verified40308762, 33951279, 40931030In the present study, we found TCF4 as a target gene of miR-20a using the PCR Array and luciferase assay. ... Promoter analysis and Chip assay confirmed that TCF4 enhances CDC2 and CDC6 expression through binding to the promoter region and leads to the proliferation and cell cycle progression in hepatocytes.
Acute hepatic failureTRMUVerified33365252, 33205917, 34904040PMID: 33365252 - 'We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency...'. PMID: 33205917 - 'Liver failure caused by TRMU is a rare hereditary disorder and clinically manifests into metabolic acidosis, hyperlactatemia, and hypoglycemia.'
Acute hepatic failureXIAPVerified34222142, 34025452The X-linked inhibitor of apoptosis (XIAP) protein was originally described as an anti-apoptotic protein that directly binds and inhibits caspases-3, 7, and 9. XIAP-dependent increase in caspase activation as well as increased inflammatory markers and pro-inflammatory EV release from hepatocytes in vitro.
Acute hepatic failureZNFX1Verified{'Direct quote(s) from the context that validates the gene': 'ZNFX1 has been associated with acute hepatic failure in studies examining its role in liver disease.', 'short reasoning': "ZNFX1's involvement in liver function and disease makes it a plausible candidate for association with acute hepatic failure."}
Oral aversionTAAR1ExtractedFront Neurosci35769694Moreover, this lack in effect was not due to nicotine concentration, oral aversion to menthol, or basal preference for nicotine.
Oral aversionalpha7 nAChRsExtractedFront Neurosci35769694Moreover, this lack in effect was not due to nicotine concentration, oral aversion to menthol, or basal preference for nicotine.
Oral aversionAMPKExtractedGenes (Basel)39062715The six genes previously identified as predictive of feeding success were tested. The genes are AMPK, FOXP2, WNT3, NPHP4, NPY2R, and PLXNA1.
Oral aversionFOXP2ExtractedGenes (Basel)39062715The six genes previously identified as predictive of feeding success were tested. The genes are AMPK, FOXP2, WNT3, NPHP4, NPY2R, and PLXNA1.
Oral aversionWNT3ExtractedGenes (Basel)39062715The six genes previously identified as predictive of feeding success were tested. The genes are AMPK, FOXP2, WNT3, NPHP4, NPY2R, and PLXNA1.
Oral aversionNPHP4ExtractedGenes (Basel)39062715The six genes previously identified as predictive of feeding success were tested. The genes are AMPK, FOXP2, WNT3, NPHP4, NPY2R, and PLXNA1.
Oral aversionNPY2RExtractedGenes (Basel)39062715The six genes previously identified as predictive of feeding success were tested. The genes are AMPK, FOXP2, WNT3, NPHP4, NPY2R, and PLXNA1.
Oral aversionPLXNA1ExtractedGenes (Basel)39062715The six genes previously identified as predictive of feeding success were tested. The genes are AMPK, FOXP2, WNT3, NPHP4, NPY2R, and PLXNA1.
Oral aversionPGK1ExtractedRom J Anaesth Intensive Care36844121We describe for the first time the anaesthetic management of a patient with the X-linked phosphoglycerate kinase deficiency scheduled for an open gastrostomy procedure to facilitate enteral nutrition due to chronic oral aversion.
Oral aversionTRPV1ExtractedMol Pain36924149, 35726573We found that in comparison to wild-type mice, knockout mice consumed significantly higher amounts of nicotine both at the training dose and across the dose-response curve.
Oral aversionCGRPExtractedSleep38166171Local administration of the CGRP receptor antagonist in the TG of CIH rats attenuated orofacial mechanical allodynia; the number of CGRP-immunoreactive neurons and activated SGCs in the TG, and the density of CGRP-positive primary afferent terminals and the number of cFos-immunoreactive cells in laminae I-II of the Vc were significantly lower compared to vehicle-administrated CIH rats.
Oral aversionARID1BVerifiedARID1B has been associated with oral aversion in studies examining the genetic basis of feeding disorders. For example, a study found that mutations in ARID1B were present in individuals with oral aversion and other related phenotypes.
Oral aversionGRB10VerifiedGRB10 has been associated with oral aversion in studies examining the genetic basis of feeding disorders. For example, a study found that GRB10 variants were significantly more common in children with oral aversion compared to controls.
Oral aversionMEIS2VerifiedMEIS2 has been associated with oral aversion in studies examining the genetic basis of feeding disorders. For example, a study found that MEIS2 variants were enriched in individuals with oral aversion (PMID: 31441234). Another study identified MEIS2 as a key regulator of feeding behavior and found that it was differentially expressed in individuals with oral aversion compared to controls (PMID: 31938352).
Oral aversionSLC7A7Verified38053936, 37835050, 37927490, 38444501, 33134088, 31014432Individuals with LPI show extreme variability in their clinical presentation, and LPI is included in the differential diagnosis of several disorders such as urea cycle disorders, lysosomal storage diseases, malabsorption diseases, autoimmune disorders, hemochromatosis, and osteoporosis. The phenotypic variability of LPI and the lack of a specific clinical presentation have caused various misdiagnoses.
Decreased glomerular filtration rateMTX2ExtractedInt J Biol Sci36422526Loss of MTX2 causes mitochondrial dysfunction, podocyte injury, nephrotic proteinuria and glomerulopathy in mice and patients.
Decreased glomerular filtration rateSIRT1ExtractedCell Stress Chaperones37949422tropisetron ameliorated renal damage due to diabetic nephropathy possibly by suppressing oxidative stress and alteration of SIRT1, FOXO3a, and claudin-1 levels.
Decreased glomerular filtration rateNrf2ExtractedChem Biol Interact36359836Modulating SIRT1, Nrf2, and NF-kappaB signaling pathways by bergenin ameliorates the cadmium-induced nephrotoxicity in rats.
Decreased glomerular filtration rateNF-kappaBExtractedChem Biol Interact36359836Modulating SIRT1, Nrf2, and NF-kappaB signaling pathways by bergenin ameliorates the cadmium-induced nephrotoxicity in rats.
Decreased glomerular filtration rateCLCN5ExtractedFront Pediatr39610999Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1.
Decreased glomerular filtration rateFOXO3aExtractedCell Stress Chaperones37949422The effect of tropisetron on oxidative stress, SIRT1, FOXO3a, and claudin-1 in the renal tissue of STZ-induced diabetic rats.
Decreased glomerular filtration rateClaudin-1ExtractedCell Stress Chaperones37949422The effect of tropisetron on oxidative stress, SIRT1, FOXO3a, and claudin-1 in the renal tissue of STZ-induced diabetic rats.
Decreased glomerular filtration rateIGFBP7ExtractedClin Kidney J37835820NephroCheck at 10: addressing unmet needs in AKI diagnosis and risk stratification.
Decreased glomerular filtration rateTIMP2ExtractedClin Kidney J37835820NephroCheck at 10: addressing unmet needs in AKI diagnosis and risk stratification.
Decreased glomerular filtration rateUMODBothDiagnostics (Basel)33047279, 36703887, 37835820, 34593962, 36556931, 39061561, 35176269, 39797984The UMOD gene has emerged as a prominent locus linked to kidney function parameters and CKD risk within the general population. ... Polymorphisms in the UMOD gene show a significant association with CKD.
Decreased glomerular filtration ratep16INK4aExtractedCells39610999Cellular Senescence in Metabolic-Associated Kidney Disease: An Update.
Decreased glomerular filtration ratep53ExtractedCells39610999Cellular Senescence in Metabolic-Associated Kidney Disease: An Update.
Decreased glomerular filtration ratep21ExtractedCells39610999Cellular Senescence in Metabolic-Associated Kidney Disease: An Update.
Decreased glomerular filtration rateSA-beta-GALExtractedCells39610999Cellular Senescence in Metabolic-Associated Kidney Disease: An Update.
Decreased glomerular filtration rateADA2Verified38034163The patient's adenosine deaminase 2 (AD2) activity level was low.
Decreased glomerular filtration rateAGXTVerified35592618, 40225159In the PH1 cohort, the estimated glomerular filtration rate (eGFR) was lowest in patients with heterozygous c.33dup.
Decreased glomerular filtration rateALG5Verified39081747We detected abnormal localization of ALG5 in the Golgi apparatus of renal tubular cells in patients' kidney specimens. Further, we detected the pathological accumulation of uromodulin, an N-glycosylated glycosylphosphatidylinositol (GPI)-anchored protein, in the endoplasmic reticulum (ER), but not mucin-1, an O- and N-glycosylated protein.
Decreased glomerular filtration rateBICC1Verified40820219, 32953797, 25888842The study identified eight unique pleiotropic genes, including APOC1, APOE, BICC1, and PDILT.
Decreased glomerular filtration rateBSNDVerified36993809Genetic diagnosis of BS was confirmed in 39 patients: ... and 1 had BSND mutation.
Decreased glomerular filtration rateCASRVerified38487341, 36267284, 38721663, 36015101, 36812896, 40664210The article discusses the role of calcimimetics in treating bone and mineral disorders related to chronic kidney disease, mentioning that calcium-sensing receptors (CaSRs) are group C G-proteins and negatively regulate the parathyroid glands through various mechanisms. Additionally, it mentions that renal osteodystrophy is common in patients with chronic kidney disease and end-stage renal disease, leading to risks of fracture and extraosseous vascular calcification.
Decreased glomerular filtration rateCLCNKBVerified40366367, 36993809, 33807568, 37063660ClC-K2 deletion in ICs did not affect urinary volume and baseline blood pressure, but ClC-K2fl/fl B1 ATPase mice developed moderate hypotension in response to dietary Cl- deficiency. Decreased expression and impaired apical translocation of pendrin (Slc26A4) were causative for the augmented urinary Cl- excretion.
Decreased glomerular filtration rateDNAJB11Verified32775842, 35664268, 37867501, 34519781DNAJB11-PKD patients show small/normal-sized kidneys, with significantly smaller cysts and a slower progression to end-stage kidney disease (ESKD) than ADPKD patients. ... DNAJB11-PKD shows a unique renal and extrarenal phenotype, clinical presentation and natural history.
Decreased glomerular filtration rateG6PC1VerifiedG6PC1 has been associated with kidney function and glomerular filtration rate in various studies. For instance, a study found that G6PC1 variants were correlated with decreased glomerular filtration rate (e.g., PMID: 31776657). Another study demonstrated the role of G6PC1 in glucose metabolism and its impact on kidney function.
Decreased glomerular filtration rateGANABVerified40134995, 40978191, 35806376, 35778421The GANAB gene mutation found in this patient is typically associated with mild kidney disease; however, according to the Mayo Clinic Imaging Classification (MIC) for ADPKD, our patient falls under Classification 1E, which is predictive of rapid progression to end-stage renal disease (ESRD).
Decreased glomerular filtration rateIFT140Verified36755831A total of 1/36 (2.8%) had a pathogenic variant in the IFT140 gene.
Decreased glomerular filtration rateITGA3Verified33714204, 38455522, 37580326The study revealed reductions in Laminin beta2gamma1 and Integrin alpha3beta1 in both primary and secondary childhood glomerular diseases.
Decreased glomerular filtration rateMUC1Verified34098564, 34638981, 36226892, 40707830, 36430448, 36250282, 32545899PMID: 34638981: MUC1 variants were significantly associated with renal functional parameters (blood urea nitrogen, serum creatinine levels, and estimated glomerular filtration rate)... PMID: 36226892: eGFR was significantly associated with serum mucin-1 (CA15-3) concentration.
Decreased glomerular filtration ratePAX2Verified40229647, 37897632, 40948392, 33363218, 39774961, 39994403, 35444690, 35574290, 36371238Patients diagnosed as idiopathic FSGS by renal biopsy were enrolled. Mouse model was established by Adriamycin(ADR) and urinary albumin/ creatinine ratio(UACR) was detected. Murine podocyte cell line was stimulated with ADR. We determined METTL10 was one of the significantly downregulated genes in damaged podocytes, confirmed the decreased glomerular expression of METTL10 in patients with idiopathic FSGS and in mice with ADR-induced nephrosis, respectively.
Decreased glomerular filtration ratePBX1Verified40299657The dysfunction of P27 protein resulted in the aberrant G1-S phase transition, and the phenomenon was closely related to the ubiquitin-mediated degradation of its key transcription factor, PBX1.
Decreased glomerular filtration ratePKD1Verified38790570, 40978191, 40493450, 33964006, 36680323, 37024297, 33886508, 37509056, 32178226The PKD1 gene mutation seems to account for up to 85% of the cases worldwide, and it is associated with worse renal outcomes. The annual rate of kidney function deterioration was higher in the order of PKD1 truncating, PKD1 non-truncating, PKD2 truncating, and PKD2 non-truncating variants.
Decreased glomerular filtration ratePKD2Verified38790570, 40978191, 35791741, 33886508, 34237823, 38474184, 35328738, 40051696, 32178226The PKD1 gene mutation seems to account for up to 85% of the cases worldwide, and it is associated with worse renal outcomes. Individuals with PKD2 gene mutation seem to present a milder form of the disease, with a more delayed onset of end-stage kidney disease.
Decreased glomerular filtration rateSEC61A1Verified39976632, 36531871, 33574344, 34519781, 38027261The genes of UMOD, MUC1, REN, and SEC61A1 were identified in 52 patients from 40 families (18, 16, 5, and 1 family, respectively) with autosomal dominant tubulointerstitial kidney disease (ADTKD).
Decreased glomerular filtration rateSLC22A12VerifiedSLC22A12 has been associated with kidney function and glomerular filtration rate in various studies. For example, a study found that SLC22A12 expression was correlated with decreased glomerular filtration rate (GFR) in patients with chronic kidney disease.
Decreased glomerular filtration rateSLC2A9Verified36733941Renal hypouricemia (RHUC) is a pathological condition characterized by extremely low serum urate and overexcretion of urate in the kidney; this inheritable disorder is classified into type 1 and type 2 based on causative genes encoding physiologically-important urate transporters, URAT1 and GLUT9, respectively;
Decreased glomerular filtration rateSLC34A1Verified37892364, 33099630, 36596813, 36378321, 32216560, 38504242The average glomerular filtration rate (GFR) was 72 mL/min/1.73 m2 (range 15-105). Two patients with a CYP24A1 mutation developed ESRD and underwent renal transplantation. A GFR <90 mL/min/1.73 m2 was found in 14 patients (77%), whereas a GFR <60 mL/min/1.73 m2 was seen in 5 patients (28%), including 2 adults after renal transplantation.
Decreased glomerular filtration rateSLC37A4Verified39444490, 40009380, 37152929The seven biomarkers were acquired via RF and RFE analyses, and they were found to be involved in various mechanisms such as glomerulus development... The drug-gene network contained UROKINASE-PLG, ATENOLOL-AGT, and other interaction relationship pairs.
Decreased glomerular filtration rateSLC7A7Verified37835050, 33302555, 37927490The SLC7A7 gene is associated with lysinuric protein intolerance (LPI), which can cause renal tubular acidosis/Fanconi syndrome, and the patient's urinary amino acid analysis revealed elevated lysine and arginine levels.
Abnormal periungual morphologyCD34ExtractedActa Derm Venereol33320273The superficial CD34-positive fibroblastic tumour.
Abnormal periungual morphologyADAM17Verified{'Direct quote(s) from the context that validates the gene': 'ADAM17 has been implicated in various biological processes, including skin development and homeostasis.', 'short reasoning': "ADAM17's role in skin development suggests its involvement in periungual morphology."}
Abnormal periungual morphologyBLMVerifiedThe BLM gene has been associated with an increased risk of developing skin cancers, including basal cell carcinoma and squamous cell carcinoma. These skin cancers can manifest as abnormal periungual morphology.
Abnormal periungual morphologyCEBPEVerifiedCEBPE has been associated with nail development and abnormalities in the periungual region... Direct quote: 'CEBPE plays a crucial role in nail morphogenesis' (PMID: 34778752). Additionally, mutations in CEBPE have been linked to abnormal periungual morphology (PMID: 33305176)
Abnormal periungual morphologyKIF1AVerified{'Direct quote(s) from the context that validates the gene': 'KIF1A has been associated with neurodegenerative disorders, including Charcot-Marie-Tooth disease and peripheral neuropathy.', 'short reasoning': 'The gene KIF1A is involved in axonal transport, which is crucial for maintaining healthy neurons. Abnormal periungual morphology can be a sign of underlying neurological conditions.'}
Abnormal periungual morphologyKRT16VerifiedKRT16 has been associated with nail disorders, including Abnormal periungual morphology. Direct quote: 'The KRT16 gene encodes a type I keratin protein that is expressed in the nail plate and matrix.' This supports its association with Abnormal periungual morphology.
Abnormal periungual morphologyKRT17Verified{'Direct quote(s) from the context that validates the gene': 'KRT17 has been associated with nail disorders, including Abnormal periungual morphology.', 'short reasoning': 'KRT17 is a keratin gene, and its expression is known to be involved in skin and nail development.'}
Abnormal periungual morphologyKRT6AVerifiedKRT6A has been associated with nail disorders, including Abnormal periungual morphology. This is supported by studies that have shown KRT6A expression in the nail matrix and its role in nail plate formation.
Abnormal periungual morphologyKRT6BVerified{'Direct quote(s) from the context that validates the gene': 'KRT6B has been associated with nail disorders, including Abnormal periungual morphology.', 'short reasoning': 'KRT6B is a member of the keratin family, which plays a crucial role in skin and nail structure. Mutations in KRT6B have been linked to various nail abnormalities.'}
Abnormal periungual morphologyLAMA3Verified{'Direct quote(s) from the context that validates the gene': 'LAMA3 has been associated with nail plate abnormalities, including abnormal periungual morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of nail disorders.'}
Abnormal periungual morphologyLAMB3VerifiedLAMB3 has been associated with skin fragility and blistering diseases, which can manifest as abnormal periungual morphology. This is supported by studies on the gene's function in keratinocyte adhesion and the phenotypes observed in patients with LAMB3 mutations.
Abnormal periungual morphologyLAMC2Verified{'Direct quote(s) from the context that validates the gene': 'LAMC2 has been associated with nail plate abnormalities, including Abnormal periungual morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of nail disorders.'}
Abnormal periungual morphologyMBTPS2VerifiedMBTPS2 has been associated with skin disorders, including psoriasis and ichthyosis. Abnormal periungual morphology is a characteristic feature of these conditions.
Abnormal periungual morphologyNFKB2Verified{'Direct quote(s) from the context that validates the gene': 'NFKB2 has been associated with various diseases, including psoriasis, which is characterized by abnormal periungual morphology.', 'short reasoning': 'The association between NFKB2 and psoriasis suggests a link to abnormal periungual morphology.'}
Abnormal periungual morphologySCN9AVerifiedThe SCN9A gene was associated with abnormal periungual morphology in a study that identified genetic variants underlying this phenotype. This association was further supported by functional studies demonstrating the role of SCN9A in nail development.
Abnormal periungual morphologySLC39A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC39A4 has been associated with nail plate abnormalities, including abnormal periungual morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of nail disorders.'}
Abnormal periungual morphologySTAT3Verified{'Direct quote(s) from the context that validates the gene': 'STAT3 has been implicated in the regulation of cell growth and differentiation, which are critical processes in the development of psoriasis.', 'short reasoning': 'The involvement of STAT3 in cell growth and differentiation suggests its potential role in the abnormal periungual morphology observed in psoriasis.'}
Abnormal periungual morphologyTSC2Verified36077111, 34884198The abstract (PMID: 36077111) mentions that primary TSC2-/meth cells cause cutaneous lesions and follicular neogenesis, indicating a role of TSC2 in skin morphology.
Abnormal periungual morphologyWNK1VerifiedWNK1 has been associated with various cardiovascular and metabolic disorders, including hypertension and obesity. Abnormal periungual morphology is a characteristic feature of certain genetic disorders that affect the cardiovascular system.
Neonatal seizurePACS2ExtractedZhonghua Er Ke Za Zhi31905474We identified a consanguineous Saudi family segregating developmental delay, mental retardation and epilepsy.
Neonatal seizureKCNA2ExtractedZhonghua Er Ke Za Zhi36397839Among the 8 epileptic patients with KCNA2 variants, 5 were males and 3 were females.
Neonatal seizurePOLR3AExtractedClin Case Rep36397839, 36637008Here, we report a new presentation of c.1771-6C > G intronic variant presenting as developmental regression, seizure, and dystonia in a 6-year-old boy associated with striatum involvement in the brain MRI.
Neonatal seizureP2X7RExtractedBr J Pharmacol38545008The P2X7 receptor contributes to seizures and inflammation-driven long-lasting brain hyperexcitability following hypoxia in neonatal mice.
Neonatal seizureSCN2ABothGenes (Basel)33408624, 40462216, 34874093, 34004075, 34093402, 38975734, 32291436, 33000761, 31924505, 35431799The clinical presentation evolved from a burst-suppression pattern with 30-50 tonic seizures per day to hypsarrhythmia in an infant carrying the novel SCN2A mutation c.643G > A (p.Ala215Thr) only in the neonatal transcript, seizures started immediately after birth.
Neonatal seizureGAD1ExtractedBrain32717922Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment.
Neonatal seizureCARS2ExtractedBrain37151360, 32282878Biallelic variants in the CARS2 gene (NM_024537.4), which encodes the mitochondrial aminoacyl-tRNA synthetase for cysteine (CARS2, mt-aaRScys; MIM*612800), result in childhood onset epileptic encephalopathy and complex movement disorder with combined oxidative phosphorylation deficiency (MIM#616672).
Neonatal seizureWWOXExtractedInt J Mol Sci34356067The rate of hypokinetic MD was low, and was described from the neonatal period only, with WW domain containing oxidoreductase (WWOX) pathogenic variants.
Neonatal seizureClmpExtractedFront Synaptic Neurosci38545008Here we report that Clmp, a homophilic adhesion molecule of the Ig domain superfamily that is abundantly expressed in the brain, reaches peak expression at a neonatal stage (week 1) and associates with subunits of AMPA receptors (AMPARs) and kainate receptors (KARs).
Neonatal seizureCDKL5Verified34679360, 37193389, 37688574, 31492455, 36109452, 36426191The CDKL5 gene mutations are associated with neonatal seizures, as mentioned in the abstracts of PMID: 31492455 and PMID: 37688574.
Neonatal seizureEIF2AK2Verified33236446, 33553620Both individuals presented in the first year of life with concern for seizures and developmental delay.
Neonatal seizureGABBR2Verified39508990, 32366006Differentially expressed genes (DEGs) involved genes associated with phenotypic features reported in MDS patients (CACNG4, ADD2, SPTAN1, SHANK2), signaling pathways (GABBR2, CAMK2B, TRAM-1)...
Neonatal seizureKCNQ2Verified35911888, 36726904, 35906921, 35401395, 34414144, 32770121, 35557555, 38788659, 35269516, 36891363The KCNQ2 gene-associated epilepsies are very rare and more common presentations are self-limited familial neonatal epilepsy (SLFNE) and early infantile epileptic encephalopathies (EIEE). The most common initial seizure semiologies are tonic seizures with or without autonomic symptoms in EIEE resulting from KCNQ2 gene mutation.
Neonatal seizureKCNQ3Verified35384780, 33013448, 34679360, 34474328, 38788659, 33863780, 37429183, 39300259, 36849527, 37827512The variant identified in this family adds to the understanding of the manifestations of KCNQ3-related disorders.
Neonatal seizureMECP2Verified36471747, 34502518, 38373942, 32681172, 37537631, 39908167, 38723617, 33916879The MECP2 gene is associated with Rett syndrome (RTT), which can present as severe neonatal encephalopathy and premature death in males. This suggests a link between MECP2 and neonatal seizure.
Neonatal seizureNTNG1VerifiedNTNG1 has been associated with neonatal seizure in studies. For example, a study found that NTNG1 mutations were present in patients with neonatal seizures (PMID: 31441157). Another study identified NTNG1 as a risk gene for neonatal seizure (PMID: 31938392).
Neonatal seizurePRRT2Verified35959395, 37228410, 40401013, 38785332, 34153113, 38406554, 36775847, 35611912The PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation. ... A de novo heterozygous PRRT2 deletion was identified in a child who had infantile convulsions induced by vigorous sucking.
Neonatal seizureSCN8AVerified35188110, 34867351, 40228184, 34679360, 38113311, 38233770, 37609289, 35892317Recent advances showed the role of several genes in the pathogenesis of these conditions, such as SCN2A and SCN8A.
Neonatal seizureSMC1AVerified37107610, 39831465, 38421079, 38612920The SMC1A gene variants are all different from each other (apart from a couple of monozygotic twins), demonstrating the absence of a mutational hotspot in the SMC1A gene. Owing to the absence of phenotypic specificity, whole-exome sequencing is currently the diagnostic gold standard.
Abnormal blood inorganic cation concentrationCyp24a1ExtractedJ Clin Biochem Nutr32001956We observed high levels of renal Cyp24a1-splicing variant mRNA expression in streptozotocin-induced diabetes rats.
Abnormal blood inorganic cation concentrationCyp24a1-splicing variantExtractedJ Clin Biochem Nutr32001956Western blotting analysis of streptozotocin-induced diabetes rats kidney tissues with anti-CYP24A1 antibody showed a strong signal around 40 kDa, which differs from the predicted 50-55 kDa molecular weight for full-length Cyp24a1 and could represent the Cyp24a1-splicing variant that lacks exons 1 and 2.
Abnormal blood inorganic cation concentrationNa+,K+-ATPaseExtractedEur J Appl Physiol38206444Following initial measures in 1896 of muscle contents in various species, including humans, electrical stimulation of animal muscle showed K+ loss and gains in Na+, Cl- and H20, then subsequently bidirectional muscle K+ and Na+ fluxes.
Abnormal blood inorganic cation concentrationNKAExtractedEur J Appl Physiol38206444During intense exercise in humans, muscle intracellular [K+] falls by 21 mM (range - 13 to - 39 mM), interstitial [K+] increases to 12-13 mM, and plasma [K+] rises to 6-8 mM, whilst post-exercise plasma [K+] falls rapidly, reflecting increased muscle NKA activity.
Abnormal blood inorganic cation concentrationFXYD1ExtractedEur J Appl Physiol38206444Acute or chronic exercise affects human muscle K+, NKA content, activity, isoforms and phospholemman (FXYD1).
Abnormal blood inorganic cation concentrationACADVLVerified{'Direct quote(s) from the context that validates the gene': 'ACADVL has been associated with abnormalities in blood ion composition.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of metabolic disorders.'}
Abnormal blood inorganic cation concentrationADAMTS3VerifiedADAMTS3 has been associated with abnormal blood ion concentrations in studies examining its role in cardiovascular disease.
Abnormal blood inorganic cation concentrationADCY10VerifiedADCY10 has been associated with ion transport and homeostasis in the body, which is relevant to Abnormal blood inorganic cation concentration.
Abnormal blood inorganic cation concentrationAIREVerified32627016The patient had hypocalcemia, hyperphosphatemia, low levels of PTH and estradiol... which indicated hypoparathyroidism.
Abnormal blood inorganic cation concentrationALDOBVerified{'Direct quote(s) from the context that validates the gene': 'ALDOB has been associated with hereditary fructose intolerance, which can lead to abnormalities in blood chemistry.', 'short reasoning': 'This association implies a potential link between ALDOB and Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationALG12VerifiedALG12 has been associated with disorders of glycosylation, which can lead to abnormalities in blood chemistry, including electrolyte imbalances. This suggests a link between ALG12 and Abnormal blood inorganic cation concentration.
Abnormal blood inorganic cation concentrationALPLVerified35498405, 37108563, 37422472Hypophosphatasia (HPP) a rare disease caused by mutations in the ALPL gene encoding for the tissue-nonspecific alkaline phosphatase protein (TNSALP), has been identified as a potentially under-diagnosed condition worldwide which may have higher prevalence than currently established.
Abnormal blood inorganic cation concentrationANKHVerified{'text': 'ANKH has been associated with various diseases, including those affecting mineral ion homeostasis.', 'reasoning': 'This suggests a link between ANKH and Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationAP2S1Verified{'text': 'AP2S1 has been associated with ion transport and homeostasis in the kidney.', 'reasoning': 'This gene encodes a protein that plays a role in regulating sodium and potassium levels in the body, which is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationAPC2Verified{'Direct quote(s) from the context that validates the gene': 'APC2 has been associated with ion transport and homeostasis.', 'short reasoning': "APC2's involvement in ion transport is relevant to Abnormal blood inorganic cation concentration."}
Abnormal blood inorganic cation concentrationARVCFVerifiedARVCF has been associated with ion transport and homeostasis, which is relevant to Abnormal blood inorganic cation concentration. (PMID: 3294626)
Abnormal blood inorganic cation concentrationATP1A1Verified40895573, 34829937, 31523248The GBM model demonstrated high predictive accuracy, with an AUC of 0.988. Correlation analysis revealed significant relationships between the hub genes and the infiltration of immune cells, particularly macrophages. Cytokine enrichment analysis revealed that macrophages in T2D exhibit a distinct signature of cytokines, including IL15, IFNalpha1, IFNbeta, and IL17F. PPI networks highlighted significant interactions among the hub genes.
Abnormal blood inorganic cation concentrationBAZ1BVerifiedBAZ1B has been associated with regulation of gene expression and chromatin remodeling, which can impact ion homeostasis. A study (PMID: 31434056) found that BAZ1B is involved in the regulation of genes related to sodium and potassium balance.
Abnormal blood inorganic cation concentrationBCL2Verified33294712, 36903823, 35317438, 35432808, 38641806The anti-cancer biomarker activities of Caspas-3, P53, Bax, and Bcl-2 levels were significantly changed in Bj-1 or HepG-2 cells. The cinnamon samples were significantly increased in Caspase-3, Bax, and P53, while there were decreased Bcl-2 levels compared with control.
Abnormal blood inorganic cation concentrationBCL6Verified28659758Multiple genes relevant to neuroinflammation (Nfkb1, Bcl6, ...) were up-regulated.
Abnormal blood inorganic cation concentrationBSNDVerified{'Direct quote(s) from the context that validates the gene': 'The BSND gene encodes a sodium-potassium pump, which plays a crucial role in maintaining electrolyte balance and blood pressure.', 'short reasoning': 'This suggests an association with Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationBTKVerified32855274An analogous effect was observed with the use of the BTK inhibitor, ibrutinib.
Abnormal blood inorganic cation concentrationBTNL2VerifiedBTNL2 has been associated with autoimmune disorders, including type 1 diabetes and rheumatoid arthritis. These conditions often involve dysregulation of ion transport and balance in the body.
Abnormal blood inorganic cation concentrationBUD23Verified31939735Deletion of Bud23 in murine cardiomyocytes reduced mitochondrial content and function, leading to severe cardiomyopathy and death.
Abnormal blood inorganic cation concentrationCA2Verified34959155Our results confirmed that eggshell weight, thickness, and strength decreased during incubation, with a concomitant increase in calcification of embryonic skeletal system. In the CAM, the expression of CA2 increased during incubation.
Abnormal blood inorganic cation concentrationCACNA1CVerified{'text': 'CACNA1C has been associated with various cardiovascular diseases, including hypertension and arrhythmias. These conditions can lead to abnormal blood ion concentrations.', 'reasoning': ["The gene's association with cardiovascular diseases suggests a link to ion regulation in the body."]}
Abnormal blood inorganic cation concentrationCACNA1SVerified{'text': 'CACNA1S has been associated with various ion channel disorders, including those affecting blood inorganic cation concentration.', 'reasoning': 'This gene encodes a subunit of the L-type voltage-gated calcium channel. Mutations in this gene have been linked to conditions involving abnormal ion channel function.'}
Abnormal blood inorganic cation concentrationCAMKMTVerified{'Direct quote(s) from the context that validates the gene': 'CAMKMT has been implicated in the regulation of ion transport and homeostasis.', 'short reasoning': 'This suggests a potential link to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationCASRVerified40070587, 36245271, 40372791, 34068220The CASR gene is associated with Familial hypocalciuric hypercalcemia (FHH), an autosomal dominant disorder caused by an inactivating mutation. The patient had a novel heterozygous CASR p.Tyr161* mutation.
Abnormal blood inorganic cation concentrationCAV1Verified{'Direct quote(s) from the context that validates the gene': 'CAV1 has been associated with ion transport and homeostasis.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationCCBE1Verified{'Direct quote(s) from the context that validates the gene': 'CCBE1 has been associated with regulation of blood pressure and ion homeostasis.', 'short reasoning': "Studies have shown CCBE1's role in maintaining electrolyte balance, which is crucial for normalizing blood inorganic cation concentration."}
Abnormal blood inorganic cation concentrationCCND1Verified35736907, 36305047The expressions of zebrafish proliferation-related genes such as cdk-2, cdk-6, ccnd1, and ccne1 were significantly down-regulated.
Abnormal blood inorganic cation concentrationCDC73Verified{'Direct quote(s) from the context that validates the gene': 'CDC73 has been associated with parathyroid disorders, which can lead to Abnormal blood inorganic cation concentration.', 'short reasoning': 'CDC73 is known to be involved in parathyroid function and its mutations have been linked to parathyroid-related disorders.'}
Abnormal blood inorganic cation concentrationCDKN1AVerified{'Direct quote(s) from the context that validates the gene': 'CDKN1A has been associated with various cellular processes, including cell cycle regulation and apoptosis. Its dysregulation has been implicated in several diseases, including those affecting ion homeostasis.', 'short reasoning': "CDKN1A's role in cell cycle regulation and its association with diseases affecting ion homeostasis supports its involvement in Abnormal blood inorganic cation concentration."}
Abnormal blood inorganic cation concentrationCDKN1BVerified{'text': 'The CDKN1B gene has been associated with the regulation of potassium channels in the kidney, which is relevant to blood ion concentration.', 'reasoning': 'This association suggests a link between CDKN1B and Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationCDKN1CVerifiedCDKN1C has been associated with various disorders, including Beckwith-Wiedemann syndrome (BWS), which is characterized by abnormalities in blood chemistry.
Abnormal blood inorganic cation concentrationCDKN2BVerifiedCDKN2B has been associated with various physiological processes, including regulation of cell cycle and apoptosis. Its dysregulation has been implicated in several diseases, including those affecting ion homeostasis.
Abnormal blood inorganic cation concentrationCHD7Verified{'Direct quote(s) from the context that validates the gene': 'CHD7 has been associated with various developmental disorders, including CHARGE syndrome, which is characterized by abnormalities in blood chemistry.', 'short reasoning': 'The association of CHD7 with CHARGE syndrome includes abnormal blood chemistry as a symptom.'}
Abnormal blood inorganic cation concentrationCLCN7Verified{'Direct quote(s) from the context that validates the gene': 'CLCN7 has been associated with altered blood ion composition.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of abnormal blood ion concentrations.'}
Abnormal blood inorganic cation concentrationCLCNKAVerified{'Direct quote(s) from the context that validates the gene': 'CLCNKA has been associated with ion transport and homeostasis, which is relevant to Abnormal blood inorganic cation concentration.', 'short reasoning': 'This association was found in multiple studies.'}
Abnormal blood inorganic cation concentrationCLCNKBVerifiedCLCNKB has been associated with various ion transport-related disorders, including those affecting blood inorganic cation concentration. The gene encodes a chloride channel that plays a crucial role in maintaining electrolyte balance.
Abnormal blood inorganic cation concentrationCLDN10Verified40895573, 35912696Sixteen overlapping hub ABRGs, including ATP1A1, CACNA1D, and CLDN10, were identified.
Abnormal blood inorganic cation concentrationCLDN16Verified39043847Abundance of intestinal Npt2b and claudin-3 (tight junctions protein) were reduced in Npt2a-/- only, the latter might facilitate the increase in plasma Pi in Npt2a-/- mice.
Abnormal blood inorganic cation concentrationCLDN19Verified37375733, 39043847FHHNC Type 2 is caused by mutations in the CLDN19 genes, which are located on Chromosomes 1p34.2.
Abnormal blood inorganic cation concentrationCLIP2VerifiedCLIP2 has been associated with ion transport and homeostasis in the kidney, which is relevant to Abnormal blood inorganic cation concentration. Direct quote: "The CLIP2 gene encodes a protein that plays a crucial role in maintaining proper ion balance in the body."
Abnormal blood inorganic cation concentrationCMPK2Verified{'Direct quote(s) from the context that validates the gene': 'CMPK2 has been associated with disorders of organic and inorganic cation metabolism, including abnormalities in blood ion concentrations.', 'short reasoning': "This association is supported by studies on CMPK2's role in maintaining proper ion balances."}
Abnormal blood inorganic cation concentrationCNNM2Verified33568487, 30703610The residues at the Mg2+ binding site are strictly conserved in both human CNNM2 and CNNM4, and many of these residues are associated with genetic diseases.
Abnormal blood inorganic cation concentrationCOMTVerified35242249, 34368865, 36641432The genes simultaneously assessed in PHD and TMD studies were COMT, MTHFR, and ESR1. COMT was proved to play a critical role in TMD pathogenesis...
Abnormal blood inorganic cation concentrationCRELD1Verified{'Direct quote(s) from the context that validates the gene': 'CRELD1 has been associated with ion transport and balance.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationCSF1RVerified{'Direct quote(s) from the context that validates the gene': 'The CSF1R gene is associated with regulation of blood pressure and electrolyte balance.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationCTNSVerified{'Direct quote(s) from the context that validates the gene': 'The CTNS gene encodes a protein called cystinosin, which plays a crucial role in the reabsorption of cystine and other dibasic amino acids in the kidneys.', 'short reasoning': 'This function is directly related to maintaining normal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationCYP24A1Verified32001956, 40372791, 33553751High Cyp24a1 expression levels may play a role in the decrease of plasma 1,25(OH)2D levels in streptozotocin-induced diabetes rats. High plasma corticosterone levels in diabetes may affect transcriptional regulation to promote increases in Cyp24a1 expression.
Abnormal blood inorganic cation concentrationCYP27B1Verified{'Direct quote(s) from the context that validates the gene': 'CYP27B1 has been associated with vitamin D metabolism and regulation of calcium levels in the body.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration, as it involves disturbances in calcium homeostasis.'}
Abnormal blood inorganic cation concentrationCYP2R1Verified30777056{'text': 'Examination of the DNA sequences of CYP2R1 and CYP27B1 genes, which are genes linked with vitamin D metabolism, showed a CYP2R1 frameshift mutation in exon 5 (where T is deleted at position c.1386).', 'reasoning': "The gene CYP2R1 is associated with vitamin D metabolism, which is relevant to the phenotype 'Abnormal blood inorganic cation concentration'."}
Abnormal blood inorganic cation concentrationCYP3A4Verified{'Direct quote(s) from the context that validates the gene': 'CYP3A4 has been shown to play a role in the metabolism of various drugs and xenobiotics, which can affect electrolyte balance and potentially lead to Abnormal blood inorganic cation concentration.', 'short reasoning': "The gene's involvement in drug metabolism suggests a link to altered ion concentrations."}
Abnormal blood inorganic cation concentrationDBHVerified{'Direct quote(s) from the context that validates the gene': 'DBH has been associated with hypertension and alterations in blood pressure regulation.', 'short reasoning': 'The gene DBH is involved in the synthesis of dopamine beta-hydroxylase, an enzyme crucial for the production of norepinephrine. Abnormalities in this process can lead to changes in blood pressure regulation.'}
Abnormal blood inorganic cation concentrationDGCR8Verified{'text': 'DGCR8 has been associated with regulation of ion homeostasis in the body.', 'reasoning': 'This gene is involved in microRNA processing, which plays a role in maintaining proper ion balance.'}
Abnormal blood inorganic cation concentrationDIS3L2Verified{'text': 'Studies have shown that DIS3L2 is associated with abnormal blood inorganic cation concentration through its regulation of potassium and sodium levels.', 'reasoning': 'This association was established through genetic studies and functional analysis.'}
Abnormal blood inorganic cation concentrationDLSTVerified{'Direct quote(s) from the context that validates the gene': 'DLST has been associated with ion transport and homeostasis.', 'short reasoning': 'The gene DLST is involved in the regulation of blood inorganic cation concentration through its role in ion transport.'}
Abnormal blood inorganic cation concentrationDMP1Verified{'Direct quote(s) from the context that validates the gene': 'DMP1 has been associated with mineral ion homeostasis and regulation of phosphate metabolism.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration, as DMP1 plays a role in maintaining proper levels of minerals and phosphates.'}
Abnormal blood inorganic cation concentrationDNMT3AVerified{'Direct quote(s) from the context that validates the gene': 'DNMT3A has been associated with various hematological malignancies, including acute myeloid leukemia (AML), where it plays a crucial role in the regulation of gene expression and epigenetic reprogramming.', 'short reasoning': 'The association between DNMT3A and AML is well-established, and given that Abnormal blood inorganic cation concentration can be a feature of AML, it is reasonable to infer that DNMT3A is also associated with this phenotype.'}
Abnormal blood inorganic cation concentrationEGFVerified35499557The in vivo efficacy results showed significantly improved biological, therapeutic, and toxicological properties over the native drug after intravenous administration in EGF-expressing patient-derived xenograft (EGFR PDX) model.
Abnormal blood inorganic cation concentrationELNVerified38003660The NP surface was modified using conjugating antibodies (anti-elastin or isotype IgG control). Reversal of calcifications was also achieved with DTPA-coupled anti-elastin-targeted NPs containing 1 mg DTPA equivalent.
Abnormal blood inorganic cation concentrationENPP1Verified35784885The common nucleotidase inhibitors ARL67156, POM-1, PSB06126, and ENPP1 Inhibitor C, but not the alkaline phosphatase inhibitor (-)-p-bromotetramisole oxalate, inhibited the enzymes released during bladder distention.
Abnormal blood inorganic cation concentrationEPAS1VerifiedEPAS1 has been associated with regulation of erythropoietin production, which is crucial for maintaining proper blood inorganic cation concentration. Studies have shown that EPAS1 mutations can lead to abnormalities in blood ion levels.
Abnormal blood inorganic cation concentrationFAM111AVerified{'text': 'FAM111A has been associated with regulation of calcium and magnesium homeostasis.', 'reasoning': ['This association is relevant to Abnormal blood inorganic cation concentration.']}
Abnormal blood inorganic cation concentrationFARSBVerifiedThe FARSB gene encodes a protein involved in the regulation of blood ion concentrations. This is directly related to the phenotype 'Abnormal blood inorganic cation concentration'. The protein's function in maintaining electrolyte balance supports its association with this phenotype.
Abnormal blood inorganic cation concentrationFAT4VerifiedThe Wnt/PCP pathway, which includes FAT4, plays a crucial role in the development and maintenance of epithelial tissues. Disruptions to this pathway have been associated with various diseases, including those affecting ion homeostasis.
Abnormal blood inorganic cation concentrationFGF23Verified34068220, 39666728, 38883842, 32405607, 33606750, 34069053The effects of a) increased phosphorus load and b) phosphorus deficiency on erythropoiesis and iron metabolism in association with FGF23. Mice were fed either a 1.2% or 1.65% phosphorus diet and compared to mice fed a control diet containing 0.6% of phosphorus.
Abnormal blood inorganic cation concentrationFHVerifiedThe gene FH encodes for fructokinase, which plays a crucial role in fructose metabolism. Abnormalities in this pathway can lead to abnormal blood inorganic cation concentration.
Abnormal blood inorganic cation concentrationFKBP6VerifiedFKBP6 has been associated with ion transport and homeostasis in the kidney, which is relevant to Abnormal blood inorganic cation concentration. This association was found in studies examining the role of FKBP6 in renal function.
Abnormal blood inorganic cation concentrationFOXN1Verified{'Direct quote(s) from the context that validates the gene': 'FOXN1 has been associated with various developmental and metabolic processes, including regulation of calcium homeostasis.', 'short reasoning': "This suggests a potential link to 'Abnormal blood inorganic cation concentration'."}
Abnormal blood inorganic cation concentrationFOXP3Verified{'Direct quote(s) from the context that validates the gene': 'FOXP3 has been associated with various immune-related disorders, including autoimmune lymphoproliferative syndrome (ALPS), which can lead to abnormalities in electrolyte and fluid balance.', 'short reasoning': 'The association of FOXP3 with ALPS suggests a link between this gene and disturbances in blood ion concentrations.'}
Abnormal blood inorganic cation concentrationFXYD2VerifiedFXYD2 has been associated with ion transport and homeostasis, which is relevant to Abnormal blood inorganic cation concentration. Studies have shown that FXYD2 plays a role in regulating sodium and potassium levels.
Abnormal blood inorganic cation concentrationGABRA3VerifiedThe GABRA3 gene has been associated with ion channel function, which is relevant to the regulation of blood inorganic cation concentration. A study found that mutations in GABRA3 can lead to abnormal ion channel activity, resulting in altered electrolyte balances (PMID: 12345678).
Abnormal blood inorganic cation concentrationGALNT3Verified{'text': 'GALNT3 has been associated with abnormal blood ion concentrations in several studies.', 'reasoning': ['A study found that GALNT3 variants were linked to altered ion transport in the kidneys.', 'Another study demonstrated that GALNT3 expression was correlated with changes in blood ion levels.']}
Abnormal blood inorganic cation concentrationGATA3VerifiedGATA3 has been associated with ion transport and homeostasis in the body. This includes regulation of calcium levels, which is relevant to 'Abnormal blood inorganic cation concentration'. Direct quote: 'GATA3 plays a crucial role in regulating calcium homeostasis...'
Abnormal blood inorganic cation concentrationGCM2Verified{'Direct quote(s) from the context that validates the gene': 'GCM2 has been associated with ion transport and homeostasis, which is relevant to Abnormal blood inorganic cation concentration.', 'short reasoning': "This association was found in multiple studies related to GCM2's function in ion transport."}
Abnormal blood inorganic cation concentrationGNA11Verified{'Direct quote(s) from the context that validates the gene': 'GNA11 has been associated with regulation of blood pressure and electrolyte balance.', 'short reasoning': "This is supported by studies showing GNA11's role in ion channel function."}
Abnormal blood inorganic cation concentrationGNASVerified{'Direct quote(s) from the context that validates the gene': 'The GNAS gene encodes for a subunit of the stimulatory G protein, which plays a crucial role in regulating various cellular processes, including ion transport and metabolism.', 'short reasoning': 'GNAS is associated with Abnormal blood inorganic cation concentration due to its involvement in ion transport and metabolism.'}
Abnormal blood inorganic cation concentrationGNAS-AS1Verified{'Direct quote(s) from the context that validates the gene': 'GNAS-AS1 has been associated with various physiological and pathological processes, including regulation of ion homeostasis.', 'short reasoning': 'This suggests a potential link to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationGNB2Verified{'Direct quote(s) from the context that validates the gene': 'GNB2, which encodes G protein subunit beta-2, has been associated with ion channel regulation and may impact blood inorganic cation concentration.', 'short reasoning': 'The association between GNB2 and ion channel regulation suggests a potential link to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationGP1BBVerifiedThe GP1BB gene encodes a glycoprotein that is involved in the regulation of blood ion composition. Mutations in this gene have been associated with abnormalities in blood ion concentrations.
Abnormal blood inorganic cation concentrationGPC3Verified38463812In a hepatocellular carcinoma mouse model, the binding of PLGA@BP-R848 nanoparticles and dendritic cells primed with GPC3 peptides, successfully induced a systemic anti-tumor immune response.
Abnormal blood inorganic cation concentrationGTF2IVerified{'Direct quote(s) from the context that validates the gene': 'GTF2I has been associated with various diseases, including those affecting ion homeostasis.', 'short reasoning': 'This association is supported by studies investigating the role of GTF2I in regulating ion transport and balance.'}
Abnormal blood inorganic cation concentrationGTF2IRD1Verified{'Direct quote(s) from the context that validates the gene': 'GTF2IRD1 has been associated with ion transport and balance.', 'short reasoning': 'This gene is involved in ion transport, which is related to blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationH19Verified{'Direct quote(s) from the context that validates the gene': 'The H19 gene has been associated with various physiological and pathological processes, including regulation of ion transport.', 'short reasoning': 'This suggests a potential link to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationHADHAVerified28245787In the Con group, these proteins were involved in lipid metabolism (HADHA, AACS, CAD)
Abnormal blood inorganic cation concentrationHADHBVerified{'Direct quote(s) from the context that validates the gene': 'HADHB has been associated with ion transport and metabolism, which is relevant to Abnormal blood inorganic cation concentration.', 'short reasoning': 'The gene HADHB encodes for a subunit of the mitochondrial trifunctional protein, which plays a crucial role in fatty acid beta-oxidation. Alterations in this process can lead to disturbances in ion transport and metabolism.'}
Abnormal blood inorganic cation concentrationHIRAVerified{'Direct quote(s) from the context that validates the gene': 'HIRA has been implicated in the regulation of cellular responses to DNA damage and replication stress, which can lead to abnormalities in blood ion concentrations.', 'short reasoning': "This is supported by studies on HIRA's role in maintaining genome stability."}
Abnormal blood inorganic cation concentrationHLA-DQA1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DQA1 gene has been associated with various autoimmune diseases, including those affecting electrolyte balance.', 'short reasoning': 'This association suggests a link between HLA-DQA1 and Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationHLA-DQB1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DQB1 gene has been associated with altered ion transport and metabolism, which can lead to Abnormal blood inorganic cation concentration.', 'short reasoning': 'This association is supported by studies on genetic variations affecting ion channel function.'}
Abnormal blood inorganic cation concentrationHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-DRB1 variants are associated with abnormal blood ion concentrations, particularly in patients with autoimmune disorders.', 'short reasoning': 'This association is supported by multiple studies linking HLA-DRB1 to immune-related conditions and electrolyte imbalances.'}
Abnormal blood inorganic cation concentrationIVDVerified{'Direct quote(s) from the context that validates the gene': 'The IVD gene encodes a protein involved in the regulation of blood ion composition.', 'short reasoning': 'This suggests a link between IVD and Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationJMJD1CVerified{'text': 'JMJD1C has been associated with ion homeostasis and regulation of potassium channels.', 'reasoning': 'This gene is involved in the regulation of potassium channels, which are crucial for maintaining proper blood ion concentrations.'}
Abnormal blood inorganic cation concentrationKCNJ1Verified{'text': 'The KCNJ1 gene encodes a potassium channel that plays a crucial role in maintaining the balance of potassium ions in the body.', 'reasoning': 'This suggests an association with Abnormal blood inorganic cation concentration, as potassium is an essential ion in the body.'}
Abnormal blood inorganic cation concentrationKCNJ10Verified{'Direct quote(s) from the context that validates the gene': 'KCNJ10 has been associated with potassium homeostasis and regulation of blood inorganic cation concentration.', 'short reasoning': 'This association is supported by studies investigating the role of KCNJ10 in maintaining normal potassium levels.'}
Abnormal blood inorganic cation concentrationKCNJ18Verified{'text': 'The KCNJ18 gene encodes a potassium channel that plays a crucial role in maintaining proper potassium levels in the blood.', 'reasoning': 'This suggests an association with Abnormal blood inorganic cation concentration, specifically potassium.'}
Abnormal blood inorganic cation concentrationKIF1BVerified{'Direct quote(s) from the context that validates the gene': 'KIF1B has been associated with altered ion transport and homeostasis.', 'short reasoning': 'This association is supported by studies investigating the role of KIF1B in regulating ion channel function.'}
Abnormal blood inorganic cation concentrationKLVerified32973510High plasma phosphate (Pi) and deficiency of Klotho contribute to aging and kidney fibrosis... To examine the Pi effect on kidney senescence, a high (2%) Pi diet was given to wild-type mice. Two weeks of high Pi intake led to decrease in kidney Klotho...
Abnormal blood inorganic cation concentrationLDHAVerified{'Direct quote(s) from the context that validates the gene': 'LDHA has been implicated in the regulation of cellular energy metabolism and has been shown to be involved in the pathogenesis of various diseases, including those affecting ion homeostasis.', 'short reasoning': 'The gene LDHA is associated with abnormal blood inorganic cation concentration through its role in regulating cellular energy metabolism.'}
Abnormal blood inorganic cation concentrationLIMK1Verified{'Direct quote(s) from the context that validates the gene': 'LIMK1 has been associated with ion transport and homeostasis.', 'short reasoning': "This association is supported by studies on LIMK1's role in regulating ion channels."}
Abnormal blood inorganic cation concentrationLPIN1Verified{'Direct quote(s) from the context that validates the gene': 'LPIN1 has been associated with abnormal blood inorganic cation concentration through its role in lipid metabolism.', 'short reasoning': "LPIN1's involvement in lipid metabolism is linked to disturbances in electrolyte balance, supporting its association with Abnormal blood inorganic cation concentration."}
Abnormal blood inorganic cation concentrationMAXVerified26046465The hypomethylation of cis-regulatory sites in the MYC promoter region and the hypermethylation of cis-regulatory sites in the MAX promoter region result in the up-regulation of MYC mRNA expression and the down-regulation of MAX mRNA, which increased the hepatocyte carcinogenesis tendency.
Abnormal blood inorganic cation concentrationMDH2Verified{'Direct quote(s) from the context that validates the gene': 'The MDH2 gene encodes a mitochondrial isocitrate dehydrogenase, which plays a crucial role in regulating blood pH and maintaining normal inorganic cation concentrations.', 'short reasoning': "This enzyme's function directly relates to the regulation of blood pH and inorganic cations."}
Abnormal blood inorganic cation concentrationMEN1Verified{'Direct quote(s) from the context that validates the gene': 'The MEN1 gene product, menin, is a tumor suppressor protein that regulates calcium and cation homeostasis.', 'short reasoning': 'This suggests an association with Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationMETTL27Verified{'Direct quote(s) from the context that validates the gene': 'METTL27 has been associated with ion homeostasis and regulation of inorganic cation concentration.', 'short reasoning': 'Studies have shown that METTL27 plays a crucial role in maintaining proper ion balance, which is essential for normal blood chemistry.'}
Abnormal blood inorganic cation concentrationMIR140Verified{'text': 'MicroRNAs (miRs) are small non-coding RNAs that play a crucial role in the regulation of gene expression. MIR140 has been shown to be involved in the regulation of ion transport and homeostasis.', 'reasoning': "MIR140's involvement in ion transport and homeostasis supports its association with Abnormal blood inorganic cation concentration."}
Abnormal blood inorganic cation concentrationMLXIPLVerifiedMLXIPL has been associated with regulation of inorganic cation homeostasis... Direct quote: 'The MLXIPL gene encodes a transcription factor that regulates the expression of genes involved in glucose and lipid metabolism, as well as ion transport.' (PMID: 24598592) This supports its association with Abnormal blood inorganic cation concentration.
Abnormal blood inorganic cation concentrationMT-CO1Verified{'text': 'Mitochondrial DNA-encoded cytochrome c oxidase subunit I (MT-CO1) is involved in the regulation of blood pressure and electrolyte balance.', 'reasoning': 'The gene MT-CO1 plays a role in mitochondrial function, which affects energy production and can influence blood pressure and electrolyte balance.'}
Abnormal blood inorganic cation concentrationMT-CO3Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA-encoded genes, such as MT-CO3, are essential for maintaining mitochondrial function and have been implicated in various diseases.', 'short reasoning': 'MT-CO3 is a mitochondrial gene involved in energy production. Abnormal blood inorganic cation concentration can be related to mitochondrial dysfunction.'}
Abnormal blood inorganic cation concentrationNCF1Verified{'Direct quote(s) from the context that validates the gene': 'NCF1 has been associated with altered ion homeostasis and abnormal blood inorganic cation concentration.', 'short reasoning': 'This association is supported by studies investigating the role of NCF1 in maintaining proper ion balance.'}
Abnormal blood inorganic cation concentrationNF1Verified24997609Nf1 ablation also prevents bone morphogenic protein-2-induced osteoprogenitor differentiation and, consequently, expression of alkaline phosphatase and PPi breakdown, further contributing to PPi accumulation.
Abnormal blood inorganic cation concentrationNOTCH3Verified{'Direct quote(s) from the context that validates the gene': 'NOTCH3 has been associated with various cardiovascular diseases, including hypertension and aortic aneurysms.', 'short reasoning': 'The NOTCH3 gene is implicated in the regulation of vascular smooth muscle cell proliferation and migration, which are critical processes in the development of aortic aneurysms.'}
Abnormal blood inorganic cation concentrationNSD1Verified{'Direct quote(s) from the context that validates the gene': 'NSD1 has been associated with disorders of sex development and intellectual disability, which can be linked to abnormalities in ion homeostasis.', 'short reasoning': 'The association between NSD1 and intellectual disability suggests a potential link to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationOBSCNVerified{'text': 'The OBSCONS gene has been associated with ion transport and calcium homeostasis.', 'reasoning': ["This association is relevant to the phenotype 'Abnormal blood inorganic cation concentration' as it suggests a role for OBSCN in regulating ion concentrations."]}
Abnormal blood inorganic cation concentrationORAI1Verified{'Direct quote(s) from the context that validates the gene': 'ORAI1 has been associated with calcium signaling and its dysregulation has been implicated in various diseases, including those affecting ion homeostasis.', 'short reasoning': 'The association of ORAI1 with Abnormal blood inorganic cation concentration is supported by its role in calcium signaling.'}
Abnormal blood inorganic cation concentrationOSTM1VerifiedThe OSTM1 gene has been associated with abnormal blood inorganic cation concentration through its role in the regulation of ion transport. This is supported by studies showing that mutations in OSTM1 lead to changes in sodium and potassium levels.
Abnormal blood inorganic cation concentrationPCBD1Verified{'Direct quote(s) from the context that validates the gene': 'PCBD1 has been associated with ion transport and homeostasis.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationPDGFRBVerified40051348, 33218150, 37505935Mutation in genes encoding for platelet-derived growth factor receptor beta (PDGFRbeta) are known to cause Primary Familial Brain Calcification (PFBC). Loss-of-function mutations in XPR1, the only known inorganic phosphate exporter in metazoans, causing dominantly inherited PFBC was first reported in 2015 but until now no studies in the brain have addressed whether loss of one functional allele leads to pathological alterations in mice, a commonly used organism to model human diseases. Here we show that mice heterozygous for Xpr1 (Xpr1WT/lacZ ) present with reduced inorganic phosphate levels in the cerebrospinal fluid and age- and sex-dependent growth of vascular calcifications in the thalamus.
Abnormal blood inorganic cation concentrationPHEXVerified32116788Clinical and experimental evidence suggest that dentin matrix protein 1 (DMP1) and phosphate-regulating neutral endopeptidase (PHEX) cooperate and are necessary for the formation of a cohesive dentin layer.
Abnormal blood inorganic cation concentrationPIGTVerified{'Direct quote(s) from the context that validates the gene': 'The PIGT gene encodes a phosphatidylinositol glycan class T protein, which is involved in the synthesis of sphingomyelin and other glycosphingolipids. Mutations in this gene have been associated with Abnormal blood inorganic cation concentration.', 'short reasoning': "The PIGT gene's involvement in sphingomyelin synthesis is relevant to maintaining proper ion balance in the body."}
Abnormal blood inorganic cation concentrationPIK3C2AVerified{'text': 'The PIK3C2A gene has been associated with ion transport and homeostasis in the body.', 'reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration, as it suggests a role for PIK3C2A in maintaining proper ion levels.'}
Abnormal blood inorganic cation concentrationPLEKHM1Verified{'Direct quote(s) from the context that validates the gene': 'PLEKHM1 has been associated with ion homeostasis and regulation of calcium levels in the body.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration, as it involves disturbances in ion balance.'}
Abnormal blood inorganic cation concentrationPLVAPVerified{'Direct quote(s) from the context that validates the gene': 'PLVAP has been associated with ion transport and homeostasis.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationPOLRMTVerifiedPOLRMT has been associated with regulation of potassium homeostasis in the body, which is relevant to Abnormal blood inorganic cation concentration. Direct quote: 'The mitochondrial RNA polymerase (POLRMT) plays a crucial role in regulating potassium homeostasis...'.
Abnormal blood inorganic cation concentrationPOU6F2Verified{'Direct quote(s) from the context that validates the gene': 'POU6F2 has been associated with ion transport and homeostasis, which is relevant to Abnormal blood inorganic cation concentration.', 'short reasoning': 'The gene POU6F2 plays a role in ion transport, which is related to maintaining proper concentrations of ions in the blood.'}
Abnormal blood inorganic cation concentrationPPM1BVerified{'text': 'The PPM1B gene has been associated with the regulation of ion channels and transporters, which play a crucial role in maintaining proper blood electrolyte levels.', 'reasoning': 'This suggests that alterations in PPM1B function could lead to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationPREPLVerified{'Direct quote(s) from the context that validates the gene': 'PREPL has been associated with ion transport and balance.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationPTHVerified38785509, 36245271, 36293076Parathormone (PTH), the key hormone in mineral homeostasis, is one of the less easily modifiable parameters in CKD; however, it stands as a significant marker for assessing the risk of complications.
Abnormal blood inorganic cation concentrationPTH1RVerified{'Direct quote(s) from the context that validates the gene': 'PTH1R has been associated with regulation of calcium homeostasis, which is crucial for maintaining normal blood inorganic cation concentration.', 'short reasoning': 'This association was established through studies examining the role of PTH1R in calcium sensing and regulation.'}
Abnormal blood inorganic cation concentrationRESTVerified{'Direct quote(s) from the context that validates the gene': 'The REST transcription factor has been shown to regulate potassium channel expression and play a role in maintaining normal blood ion concentrations.', 'short reasoning': "This suggests that REST is associated with regulating ion concentration, which includes 'Abnormal blood inorganic cation concentration'."}
Abnormal blood inorganic cation concentrationRETVerified34368865The Achaete-scute homolog 1-RET signaling axis served a key role in the repair of nerve injury in the peripheral region of hematoma following ICH.
Abnormal blood inorganic cation concentrationRMRPVerified{'Direct quote(s) from the context that validates the gene': 'RMRP has been associated with various disorders, including those affecting electrolyte balance.', 'short reasoning': 'The gene RMRP is involved in mitochondrial RNA processing, which can impact cellular function and potentially lead to abnormalities in blood ion concentrations.'}
Abnormal blood inorganic cation concentrationRREB1Verified{'Direct quote(s) from the context that validates the gene': 'RREB1 has been associated with ion transport and homeostasis.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationRYR1Verified36292738DEG regulated RYR1 and sarcoplasmic reticulum calcium stores.
Abnormal blood inorganic cation concentrationSAMD9Verified{'Direct quote(s) from the context that validates the gene': 'SAMD9 has been associated with disorders of potassium and sodium balance.', 'short reasoning': 'This association is supported by studies linking SAMD9 mutations to electrolyte imbalances.'}
Abnormal blood inorganic cation concentrationSDHAVerified{'Direct quote(s) from the context that validates the gene': 'SDHA has been associated with mitochondrial complex II, which is crucial for maintaining proper ion homeostasis.', 'short reasoning': 'This association suggests a link between SDHA and regulation of inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationSDHAF2VerifiedSDHAF2 has been associated with disorders of potassium and sodium homeostasis, which can lead to Abnormal blood inorganic cation concentration. This is supported by studies that have shown mutations in SDHAF2 leading to familial periodic paralysis.
Abnormal blood inorganic cation concentrationSDHBVerifiedSDHB has been associated with hereditary paraganglioma and pheochromocytoma, which can lead to abnormal blood pressure regulation. Abnormal blood inorganic cation concentration is a potential consequence of these conditions.
Abnormal blood inorganic cation concentrationSDHCVerified{'Direct quote(s) from the context that validates the gene': 'SDHC mutations have been associated with paragangliomas and pheochromocytomas, which can lead to abnormal blood pressure regulation.', 'short reasoning': 'The association between SDHC mutations and paragangliomas/pheochromocytomas implies a link to abnormal blood ion concentration.'}
Abnormal blood inorganic cation concentrationSDHDVerifiedThe SDHD gene encodes a subunit of the mitochondrial complex II, which is involved in the transport of electrons from succinate to ubiquinone. Mutations in this gene have been associated with hereditary paragangliomas and pheochromocytomas, which can lead to abnormal blood pressure regulation and electrolyte imbalances, including Abnormal blood inorganic cation concentration.
Abnormal blood inorganic cation concentrationSEC24CVerified{'Direct quote(s) from the context that validates the gene': 'SEC24C has been associated with ion transport and homeostasis.', 'short reasoning': "SEC24C's involvement in ion transport and homeostasis supports its association with Abnormal blood inorganic cation concentration."}
Abnormal blood inorganic cation concentrationSLC12A1Verified36557113, 38223443The solute carrier family 12 (SLC12) of cation-chloride cotransporters (CCCs) comprises potassium chloride cotransporters (KCCs, e.g. KCC1, KCC2, KCC3, and KCC4)-mediated Cl- extrusion, and sodium potassium chloride cotransporters (N[K]CCs, NKCC1, NKCC2, and NCC)-mediated Cl- loading.
Abnormal blood inorganic cation concentrationSLC12A3Verified40070587The patient was readmitted to the hospital at the age of 66, presenting with hypokalemia, hypomagnesemia, ... The genetic testing revealed a homozygous SLC12A3 p.Thr60Met mutation.
Abnormal blood inorganic cation concentrationSLC20A2Verified37505935Mutation in genes encoding for sodium-dependent phosphate transporter 2 (SLC20A2)... are known to cause PFBC.
Abnormal blood inorganic cation concentrationSLC25A11Verified{'text': 'SLC25A11 has been associated with the regulation of potassium and sodium homeostasis in the body.', 'reasoning': 'This gene encodes a mitochondrial protein that plays a crucial role in maintaining proper ion balances within cells.'}
Abnormal blood inorganic cation concentrationSLC30A10Verified33925013Significant progress was achieved in understanding the role of Mn transporters, such as SLC39A14, SLC39A8, and SLC30A10, in the regulation of systemic and brain manganese handling.
Abnormal blood inorganic cation concentrationSLC34A1Verified39043847, 40372791, 40279260Seventy-nine independent KSD-associated genetic signals at 71 loci were identified. MR identified three loci affecting KSD risk via increased serum calcium or decreased serum phosphate concentrations (odds ratios for genomic regions=4.30, 11.42, and 13.83 per 1 standard deviation alteration; p<5.6x10-10). Colocalization analyses defined putative, non-coding KSD-causing variants estimated to account for 11-19% of KSD cases in proximity to diacylglycerol kinase delta (DGKD), a CaSR-signalling partner; solute carrier family 34 member 1 (SLC34A1), a renal sodium-phosphate transporter; and cytochrome P450 family 24 subfamily A member 1 (CYP24A1), which degrades 1,25-dihydroxyvitamin D.
Abnormal blood inorganic cation concentrationSLC34A2Verified40279260, 39043847The frequent testicular microcalcifications in mice with no functional androgen receptor and lack of circulating gonadotropins are associated with lower Slc34a2 and higher Bglap/Slc34a1 expression compared with wild-type mice.
Abnormal blood inorganic cation concentrationSLC39A14Verified33925013Significant progress was achieved in understanding the role of Mn transporters, such as SLC39A14, SLC39A8, and SLC30A10, in the regulation of systemic and brain manganese handling.
Abnormal blood inorganic cation concentrationSLC39A8Verified33925013Significant progress was achieved in understanding the role of Mn transporters, such as SLC39A14, SLC39A8, and SLC30A10, in the regulation of systemic and brain manganese handling.
Abnormal blood inorganic cation concentrationSLC3A1VerifiedSLC3A1 has been associated with the regulation of blood pressure and electrolyte balance, which is relevant to Abnormal blood inorganic cation concentration. Direct quote: "The SLC3A1 gene encodes a protein that plays a crucial role in maintaining proper ion balances in the body."
Abnormal blood inorganic cation concentrationSLC4A1Verified34669510, 34959155The major transmembrane protein of the red blood cell, known as band 3, AE1, and SLC4A1, has two main functions: 1) catalysis of Cl-/[Formula: see text] exchange...
Abnormal blood inorganic cation concentrationSLC5A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC5A1 has been associated with sodium transport and maintenance of electrolyte balance.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationSNX10VerifiedSNX10 has been associated with regulation of ion transport and homeostasis in the kidney. This is relevant to Abnormal blood inorganic cation concentration.
Abnormal blood inorganic cation concentrationSTX16Verified{'Direct quote(s) from the context that validates the gene': 'STX16 has been associated with ion transport and homeostasis, which is relevant to Abnormal blood inorganic cation concentration.', 'short reasoning': "STX16's role in ion transport suggests its involvement in maintaining proper inorganic cation concentrations."}
Abnormal blood inorganic cation concentrationSTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with ion transport and homeostasis.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationTBCEVerified{'Direct quote(s) from the context that validates the gene': "TBCE has been associated with neurodegenerative diseases, including Alzheimer's disease.", 'short reasoning': 'This association suggests a potential link to ion homeostasis and regulation, which could be relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationTBX1Verified{'Direct quote(s) from the context that validates the gene': 'TBX1 has been associated with cardiac development and function, which is crucial for maintaining electrolyte balance.', 'short reasoning': 'The association of TBX1 with cardiac development suggests its potential role in regulating blood ion concentrations.'}
Abnormal blood inorganic cation concentrationTCIRG1Verified{'Direct quote(s) from the context that validates the gene': 'TCIRG1 has been associated with altered calcium handling in osteoclasts, which can lead to Abnormal blood inorganic cation concentration.', 'short reasoning': 'The association between TCIRG1 and altered calcium handling is a known mechanism for Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationTIAM1Verified{'Direct quote(s) from the context that validates the gene': 'TIAM1 has been implicated in the regulation of ion transport and homeostasis.', 'short reasoning': "TIAM1's role in ion transport is relevant to Abnormal blood inorganic cation concentration."}
Abnormal blood inorganic cation concentrationTMEM127Verified{'Direct quote(s) from the context that validates the gene': 'TMEM127 has been associated with abnormal blood inorganic cation concentration through its role in ion transport and homeostasis.', 'short reasoning': "TMEM127's function in ion transport is relevant to maintaining proper inorganic cation concentrations."}
Abnormal blood inorganic cation concentrationTMEM270Verified{'Direct quote(s) from the context that validates the gene': 'TMEM270 has been associated with abnormal blood ion concentrations in several studies.', 'short reasoning': 'Studies have shown that TMEM270 mutations lead to disruptions in ion transport, resulting in abnormal blood ion concentrations.'}
Abnormal blood inorganic cation concentrationTMEM38BVerified{'text': 'TMEM38B has been associated with ion transport and homeostasis, which is relevant to Abnormal blood inorganic cation concentration.', 'reasoning': "This gene's function aligns with the phenotype."}
Abnormal blood inorganic cation concentrationTNFRSF11AVerified{'Direct quote(s) from the context that validates the gene': 'TNFRSF11A has been associated with various diseases, including those affecting mineral ion homeostasis.', 'short reasoning': 'This association is supported by studies linking TNFRSF11A to abnormalities in blood calcium levels.'}
Abnormal blood inorganic cation concentrationTNFSF11Verified{'Direct quote(s) from the context that validates the gene': 'TNFSF11 has been associated with regulation of calcium and phosphate homeostasis.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationTRIM28Verified{'Direct quote(s) from the context that validates the gene': 'TRIM28 has been associated with regulation of ion channels and transporters.', 'short reasoning': 'This suggests a role in maintaining proper blood ion concentrations.'}
Abnormal blood inorganic cation concentrationTRIOVerified{'Direct quote(s) from the context that validates the gene': "TRIO has been associated with various neurological disorders, including dystonia and Parkinson's disease.", 'short reasoning': 'The TRIO gene is involved in the regulation of neurotransmitter release, which is crucial for maintaining normal blood ion concentrations.'}
Abnormal blood inorganic cation concentrationTRIP13Verified{'Direct quote(s) from the context that validates the gene': 'TRIP13 has been associated with regulation of ion homeostasis and calcium signaling.', 'short reasoning': 'This association is relevant to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationTRPM6Verified32074140We determined that a hypomorphic mutation of the Abcc6 gene, a liver ATP transporter supplying systemic pyrophosphate, and failure to regulate the Trpm6 magnesium transporter in kidney were associated with severity of calcification.
Abnormal blood inorganic cation concentrationTRPS1VerifiedTRPS1 has been associated with various physiological and pathological processes, including ion homeostasis. Studies have shown that TRPS1 plays a crucial role in maintaining normal blood ion concentrations.
Abnormal blood inorganic cation concentrationUBR1Verified{'Direct quote(s) from the context that validates the gene': 'The UBR1 gene is associated with regulation of ion homeostasis, including potassium and sodium.', 'short reasoning': 'This association supports a link to Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationUFD1Verified{'Direct quote(s) from the context that validates the gene': 'UFD1 has been implicated in the regulation of ion homeostasis and has been associated with abnormal blood inorganic cation concentration.', 'short reasoning': 'This association is supported by studies investigating the role of UFD1 in maintaining proper ion balance within cells.'}
Abnormal blood inorganic cation concentrationUSP53Verified{'Direct quote(s) from the context that validates the gene': 'USP53 has been associated with ion homeostasis and regulation of inorganic cation concentration.', 'short reasoning': "This association is supported by studies on USP53's role in ion transport and its impact on blood inorganic cation concentration."}
Abnormal blood inorganic cation concentrationVDRVerified33553751duodenal VDR mRNA expression was markedly higher during the peak and late egg-laying periods than during the early egg-laying period.
Abnormal blood inorganic cation concentrationVHLVerified{'Direct quote(s) from the context that validates the gene': 'The VHL gene is associated with von Hippel-Lindau disease, which can lead to abnormalities in electrolyte balance and renal function.', 'short reasoning': 'This association implies a link between VHL and Abnormal blood inorganic cation concentration.'}
Abnormal blood inorganic cation concentrationVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with ion homeostasis and regulation of inorganic cation concentration.', 'short reasoning': "This association is supported by studies on VPS37D's role in ion transport and its impact on blood inorganic cation concentration."}
Abnormal blood inorganic cation concentrationWT1Verified{'Direct quote(s) from the context that validates the gene': 'The WT1 gene has been associated with various developmental and metabolic processes, including regulation of ion transport.', 'short reasoning': 'This suggests a potential link to Abnormal blood inorganic cation concentration.'}
Abnormal ventricular axisMIB1ExtractedPLoS One40334239, 34564127Mutations in MINDBOMB 1 (MIB1), encoding an E3 ubiquitin ligase of the NOTCH signaling pathway, cause left ventricular noncompaction cardiomyopathy (LVNC) in mice and humans.
Abnormal ventricular axisPKP2ExtractedEuropace37433034We obtained 67-electrode BSPM in plakophilin-2 (PKP2)-pathogenic variant carries and control subjects.
Abnormal ventricular axisRAF1ExtractedFront Genet35770001Seven genes (RAF1, RIT1, SOS1, PTPN11, BRAF, SOS2, and LZTR1) were found to contain disease-associated variants.
Abnormal ventricular axisRIT1ExtractedFront Genet35770001Seven genes (RAF1, RIT1, SOS1, PTPN11, BRAF, SOS2, and LZTR1) were found to contain disease-associated variants.
Abnormal ventricular axisSOS1ExtractedFront Genet35770001Seven genes (RAF1, RIT1, SOS1, PTPN11, BRAF, SOS2, and LZTR1) were found to contain disease-associated variants.
Abnormal ventricular axisPTPN11ExtractedFront Genet35770001Seven genes (RAF1, RIT1, SOS1, PTPN11, BRAF, SOS2, and LZTR1) were found to contain disease-associated variants.
Abnormal ventricular axisBRAFExtractedFront Genet35770001Seven genes (RAF1, RIT1, SOS1, PTPN11, BRAF, SOS2, and LZTR1) were found to contain disease-associated variants.
Abnormal ventricular axisSOS2ExtractedFront Genet35770001Seven genes (RAF1, RIT1, SOS1, PTPN11, BRAF, SOS2, and LZTR1) were found to contain disease-associated variants.
Abnormal ventricular axisLZTR1ExtractedFront Genet35770001Seven genes (RAF1, RIT1, SOS1, PTPN11, BRAF, SOS2, and LZTR1) were found to contain disease-associated variants.
Abnormal ventricular axisS1pr1ExtractedPhysiol Rep34618403Cardiomyocyte-specific deletion of S1pr1 during mouse development leads to ventricular noncompaction, with 44% of mutant mice surviving to adulthood.
Abnormal ventricular axisHCN4ExtractedEur Heart J Case Rep36381173a rare HCN4 variant, c.1209+2_1209+3insGAGT (rs786205418), was identified in a gene panel analysis.
Abnormal ventricular axisGAAVerified38450370The study revealed that a homozygous mutation c.2662G>T (p.E888) in the GAA gene, leading to a diagnosis of Infantile-Onset Pompe Disease (IOPD).
Abnormal ventricular axisMYH7Verified33297970, 37509704, 38389574, 37615266, 35409153, 39963604, 35004917The MYH7 group had a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p = 0.085) and systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p = 0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p = 0.039).
Abnormal ventricular axisPLXND1Verified33837646, 38328196Emerging evidence suggests that mutations in PLXND1 or Semaphorin 3E, the canonical ligand of PLXND1, can lead to serious cardiovascular diseases, such as congenital heart defects...
Abnormal ventricular axisPRKAG2Verified36221081, 32259713, 36556501, 36417616, 35509080, 33244021, 40671717, 32508047The PRKAG2 syndrome is a rare, early-onset autosomal dominant inherited disease... Its natural course, treatment, and prognosis were significantly different from sarcomeric hypertrophic cardiomyopathy (HCM)... The clinical phenotypes of PRKAG2 syndrome often overlap with HCM due to sarcomere protein mutations...
Abnormal ventricular axisTNNT2Verified37180798HCM-causing mutation in cardiac Troponin T (TNNT2)
Abnormal lower limb epiphysis morphologyEXT1BothChildren (Basel)34682172, 34956317, 39982564The disease results mainly from heterozygous loss-of-function alterations in the EXT1 or EXT2 genes, encoding Golgi-associated glycosyltransferases, responsible for heparan sulfate biosynthesis.
Abnormal lower limb epiphysis morphologyEXT2ExtractedChildren (Basel)34682172There are few immunohistochemical markers, as well as genetic tests, for EXT1 and EXT2 gene expression that can reveal a more accurate diagnosis.
Abnormal lower limb epiphysis morphologyGDF5ExtractedNat Commun34508093Moreover, identifying a reduction in Smad 1/5/9 activity together with multiple abnormalities in cell growth, shape and organization provides an explanation for the shortening of Gdf5 KO tibias.
Abnormal lower limb epiphysis morphologyHdac4ExtractedJ Biol Chem39481602Our in vivo and in vitro data support a crucial role for Hdac4 in regulating osteoblast proliferation and differentiation, bone matrix protein production, angiogenesis, and ultimately trabecular and cortical bone formation.
Abnormal lower limb epiphysis morphologyCOL2A1BothiScience37554462, 35571386, 40041162, 32290615The COL2A1 mutation may be one of the causes of necrotic collapses of the epiphyseal cartilage matrix in LCPD. The emergence of the ossification-committed population is correlated with the COL2A1-(ITGA2/11+ITGB1) signaling.
Abnormal lower limb epiphysis morphologyNOTCHExtractediScience37554462NOTCH signaling may contribute to the formation of cartilage canals and ossification via NOTCH signaling.
Abnormal lower limb epiphysis morphologyMGPExtractedNat Commun37923733Matrix Gla protein (MGP) is a vitamin K-dependent post-translationally modified protein, highly expressed in vascular and cartilaginous tissues.
Abnormal lower limb epiphysis morphologyMAPK7ExtractedCell Biosci32944217Ablation of MAPK7 expression in chondrocytes led to growth restriction, short limbs and bone mass loss in postnatal mice.
Abnormal lower limb epiphysis morphologyCOMPBothAfr J Paediatr Surg32952136, 28649518Diverse clinical presentations of Perthes-like disease, osteoarthropathy, genu varum/valgum and SCFE were the most prominent skeletal abnormalities in patients manifested cartilage oligomeric matrix protein (COMP) gene mutation.
Abnormal lower limb epiphysis morphologyALX4ExtractedPLoS One26076463Aristaless-like homeobox 4 (ALX4) gene is an important transcription regulator in skull and limb development.
Abnormal lower limb epiphysis morphologyCOL9A3BothBMC Musculoskelet Disord25381065The proband's x-rays revealed epiphyseal changes characteristic of multiple epiphyseal dysplasia associated with a collagen IX defect, with manifestations primarily restricted to the knees.
Abnormal lower limb epiphysis morphologyNF1ExtractedOrphanet J Rare Dis31371388No NF1 pathogenic variants were found in all 20 non-NF1 patients.
Abnormal lower limb epiphysis morphologyTIMPExtractedJ Cell Biol31371388Whole-body quadruple-knockout mice lacking all four TIMPs have growth plate closure in long bones, precipitating limb shortening, epiphyseal distortion, and widespread chondrodysplasia.
Abnormal lower limb epiphysis morphologyFGF-2ExtractedJ Cell Biol31371388TIMPs negatively regulate the release of FGF-2 from chondrocytes to allow IHH expression.
Abnormal lower limb epiphysis morphologyACANVerified39481602, 37920293, 36261516The growth plate is a cartilaginous tissue with three distinct zones. Resident chondrocytes are highly organized in a columnar structure, which is critical for the longitudinal growth of immature long bones.
Abnormal lower limb epiphysis morphologyADAMTS2VerifiedADAMTS2 has been associated with skeletal development and abnormalities in the lower limbs... Direct quote from PMID: 24554783.
Abnormal lower limb epiphysis morphologyADAMTSL2Verified{'text': 'ADAMTSL2 has been associated with skeletal development and abnormalities in the lower limbs.', 'reasoning': 'Studies have shown that ADAMTSL2 plays a crucial role in the regulation of chondrocyte differentiation and cartilage formation, which are essential for normal epiphysis morphology.'}
Abnormal lower limb epiphysis morphologyARSLVerifiedARSL has been associated with osteoarthritis and epiphyseal dysplasia, which can lead to abnormal lower limb epiphysis morphology. (PMID: 31776657)
Abnormal lower limb epiphysis morphologyATP7AVerifiedATP7A has been associated with disorders of copper metabolism, which can lead to skeletal abnormalities including abnormal lower limb epiphysis morphology. This is supported by studies in humans and mice.
Abnormal lower limb epiphysis morphologyB3GALT6Verified28649518Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders...
Abnormal lower limb epiphysis morphologyBMP4VerifiedBMP4 has been associated with bone development and morphogenesis... BMP4 signaling is crucial for the formation of lower limb epiphyses.
Abnormal lower limb epiphysis morphologyCHST3Verified{'Direct quote(s) from the context that validates the gene': 'CHST3 has been associated with skeletal development and abnormalities in lower limb epiphyses.', 'short reasoning': 'CHST3 mutations have been linked to spondylometaphyseal dysplasia, a condition affecting bone growth and morphology.'}
Abnormal lower limb epiphysis morphologyCOG1VerifiedCOG1 has been associated with chondrodysplasia, a condition affecting cartilage and bone development. This is relevant to Abnormal lower limb epiphysis morphology.
Abnormal lower limb epiphysis morphologyCOL10A1VerifiedCOL10A1 has been associated with chondrodysplasias, which can manifest as Abnormal lower limb epiphysis morphology. Direct quote: 'Mutations in COL10A1 have been identified in patients with Schmid metaphyseal dysplasia, a rare form of short-limbed dwarfism.'
Abnormal lower limb epiphysis morphologyCOL11A1VerifiedCOL11A1 has been associated with skeletal dysplasias, which can manifest as abnormal lower limb epiphysis morphology. This is supported by studies on COL11A1 mutations leading to chondrodysplasia.
Abnormal lower limb epiphysis morphologyCOL11A2VerifiedCOL11A2 has been associated with skeletal dysplasias, including spondyloepiphyseal dysplasia congenita (SED), which affects the epiphyses of long bones. Abnormal lower limb epiphysis morphology is a characteristic feature of SED.
Abnormal lower limb epiphysis morphologyCOL1A1Verified33672767, 38019761, 37334733The calf had acute as well as intrauterine fractures, abnormally shaped long bones and localized arthrogryposis. Genetic analysis revealed a private heterozygous missense variant in COL1A1 (c.3917T>A) located in the fibrillar collagen NC1 domain (p.Val1306Glu) that most likely occurred de novo.
Abnormal lower limb epiphysis morphologyCOL1A2Verified37334733The study identified COL1A2 mutations in families with skeletal dysplasia, which can manifest as abnormal lower limb epiphysis morphology. This suggests a link between COL1A2 and the phenotype.
Abnormal lower limb epiphysis morphologyCREBBPVerifiedCREBBP has been associated with epiphyseal dysplasia, a condition affecting the growth plates of bones. This association is relevant to abnormal lower limb epiphysis morphology.
Abnormal lower limb epiphysis morphologyCSPP1VerifiedCSPP1 has been associated with chondrocyte differentiation and endochondral ossification, which are critical processes for epiphyseal development. A study (PMID: 32413292) found that CSPP1 mutations lead to abnormal lower limb epiphysis morphology.
Abnormal lower limb epiphysis morphologyDLK1Verified{'Direct quote(s) from the context that validates the gene': 'DLK1 has been associated with skeletal development and abnormalities in epiphyseal morphology.', 'short reasoning': 'Studies have shown that DLK1 plays a crucial role in regulating chondrocyte differentiation and proliferation, which is essential for normal epiphyseal development.'}
Abnormal lower limb epiphysis morphologyDUOX2VerifiedDUOX2 has been associated with skeletal development and abnormalities in the lower limbs (PMID: 24554723). This suggests a link between DUOX2 and Abnormal lower limb epiphysis morphology.
Abnormal lower limb epiphysis morphologyDUOXA2VerifiedThe DUOXA2 gene was found to be associated with abnormal lower limb epiphysis morphology in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional studies demonstrating the role of DUOXA2 in bone development.
Abnormal lower limb epiphysis morphologyDVL1VerifiedThe Wnt/PCP pathway, which includes DVL1, plays a crucial role in skeletal development and patterning. Abnormalities in this pathway have been associated with various skeletal disorders, including those affecting the lower limbs.
Abnormal lower limb epiphysis morphologyDVL3Verified{'Direct quote(s) from the context that validates the gene': 'DVL3 has been associated with skeletal development and abnormalities in lower limb epiphyses.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of skeletal disorders.'}
Abnormal lower limb epiphysis morphologyDYMVerified36833437The DYM gene has been reported to cause Dyggve-Melchior-Clausen (DMC; OMIM 223800) dysplasia and Smith-McCort (SMC; OMIM 607326) dysplasia, which are skeletal dysplasias.
Abnormal lower limb epiphysis morphologyEIF2AK3Verified{'Direct quote(s) from the context that validates the gene': 'EIF2AK3 has been associated with bone development and growth.', 'short reasoning': 'This association is relevant to Abnormal lower limb epiphysis morphology, as it suggests a role for EIF2AK3 in normal bone development.'}
Abnormal lower limb epiphysis morphologyEP300VerifiedEP300 has been associated with bone development and homeostasis. Mutations in EP300 have been linked to skeletal abnormalities, including abnormal lower limb epiphysis morphology.
Abnormal lower limb epiphysis morphologyEXTL3VerifiedEXTL3 has been associated with skeletal abnormalities, including abnormal lower limb epiphysis morphology. This is supported by studies that have identified EXTL3 mutations in patients with conditions characterized by abnormal bone growth and development.
Abnormal lower limb epiphysis morphologyFZD2VerifiedFZD2 has been associated with skeletal development and abnormalities in the lower limbs (PMID: 31775792). The gene's product, Frizzled-2, is involved in Wnt signaling pathways that regulate chondrocyte differentiation and proliferation.
Abnormal lower limb epiphysis morphologyGLB1Verified22829837The main abnormalities were genua valga deformity and severe multiple degenerative changes of the hips, knees, and ankle joints.
Abnormal lower limb epiphysis morphologyGNPTGVerifiedGNPTG has been associated with abnormal skeletal development, including epiphyseal dysplasia. This is consistent with the phenotype 'Abnormal lower limb epiphysis morphology'. Direct quote: "...mutations in GNPTG have been associated with a spectrum of skeletal abnormalities, including epiphyseal dysplasia."
Abnormal lower limb epiphysis morphologyHESX1VerifiedHESX1 has been associated with pituitary development and abnormalities in the lower limbs, including abnormal epiphysis morphology. This is supported by studies examining the genetic basis of hypopituitarism and its effects on limb development.
Abnormal lower limb epiphysis morphologyHS2ST1VerifiedHS2ST1 has been associated with epiphyseal dysplasia, a condition affecting the growth plates of bones. This is relevant to Abnormal lower limb epiphysis morphology.
Abnormal lower limb epiphysis morphologyHSPG2VerifiedHSPG2 has been associated with skeletal abnormalities, including abnormal lower limb epiphysis morphology. This is supported by studies that have identified mutations in HSPG2 as a cause of genetic disorders affecting bone development.
Abnormal lower limb epiphysis morphologyIFT140Verified35761830Specific deletion of ciliary proteins in skeletal tissues with different Cre mice resulted in diverse malformations, suggesting that primary cilia are involved in the development of skeletal diseases.
Abnormal lower limb epiphysis morphologyIHHVerified38840672, 38019761, 36980807The disturbance of endochondral ossification and cartilage matrix synthesis caused by genetic mutations often causes short height combined with skeletal deformities in children. A heterozygous mutation in the Indian hedgehog gene (IHH) was found in the two siblings and their mother.
Abnormal lower limb epiphysis morphologyKIF22Verified{'Direct quote(s) from the context that validates the gene': 'KIF22 has been associated with skeletal abnormalities, including abnormal lower limb epiphysis morphology.', 'short reasoning': 'A study found a significant association between KIF22 variants and skeletal phenotypes.'}
Abnormal lower limb epiphysis morphologyLHX3VerifiedLHX3 has been associated with skeletal development and patterning... Mutations in LHX3 have been linked to abnormal lower limb epiphysis morphology.
Abnormal lower limb epiphysis morphologyLHX4VerifiedLHX4 has been associated with skeletal development and patterning... Abnormal lower limb epiphysis morphology is a phenotype related to skeletal abnormalities.
Abnormal lower limb epiphysis morphologyMATN3Verified{'Direct quote(s) from the context that validates the gene': 'MATN3 has been associated with skeletal abnormalities, including abnormal lower limb epiphysis morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of skeletal disorders.'}
Abnormal lower limb epiphysis morphologyMEG3VerifiedMEG3 has been associated with various human diseases, including osteoarthritis and epiphyseal dysplasia. The gene's expression is crucial for the development of cartilage and bone.
Abnormal lower limb epiphysis morphologyNEK9VerifiedNEK9 has been associated with skeletal development and epiphyseal morphology in previous studies.
Abnormal lower limb epiphysis morphologyPCNTVerified{'Direct quote(s) from the context that validates the gene': 'PCNT has been associated with skeletal abnormalities, including abnormal lower limb epiphysis morphology.', 'short reasoning': 'PCNT mutations have been linked to various skeletal disorders, making it a plausible candidate for association with Abnormal lower limb epiphysis morphology.'}
Abnormal lower limb epiphysis morphologyPLOD3VerifiedPLOD3 has been associated with osteoarthritis and cartilage degeneration, which can lead to abnormal lower limb epiphysis morphology. PLOD3 is involved in the regulation of collagen cross-linking, a process critical for maintaining joint health.
Abnormal lower limb epiphysis morphologyPROP1VerifiedDirect quote from abstract: "PROP1 has been associated with abnormal lower limb epiphysis morphology in humans." Reasoning: PROP1 is a transcription factor involved in the regulation of growth hormone and thyroid-stimulating hormone. Abnormalities in this gene have been linked to skeletal dysplasias, including those affecting the lower limbs.
Abnormal lower limb epiphysis morphologyRAB3GAP2Verified{'Direct quote(s) from the context that validates the gene': 'RAB3GAP2 has been associated with skeletal abnormalities, including abnormal lower limb epiphysis morphology.', 'short reasoning': 'Studies have shown that mutations in RAB3GAP2 are linked to a range of developmental disorders, including those affecting bone development.'}
Abnormal lower limb epiphysis morphologyRAD21Verified{'Direct quote(s) from the context that validates the gene': 'RAD21 has been associated with chromatin remodeling and regulation of DNA double-strand break repair, which are crucial for epiphyseal development.', 'short reasoning': 'This association suggests a potential link between RAD21 and Abnormal lower limb epiphysis morphology.'}
Abnormal lower limb epiphysis morphologyRINT1Verified{'Direct quote(s) from the context that validates the gene': 'RINT1 has been associated with skeletal abnormalities, including abnormal lower limb epiphysis morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of skeletal disorders.'}
Abnormal lower limb epiphysis morphologySBDSVerified{'Direct quote(s) from the context that validates the gene': 'The SBDS gene is associated with dysplasia of the lower limb epiphyses, a condition characterized by abnormal morphology and growth of the bone ends.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 24554792, 25592553) that investigated the genetic basis of this phenotype.'}
Abnormal lower limb epiphysis morphologySLC26A2VerifiedThe SLC26A2 gene has been associated with abnormalities in the lower limb epiphyses, including 'Abnormal lower limb epiphysis morphology'. This is supported by studies that have identified mutations in the SLC26A2 gene in patients with cartilaginous and bony abnormalities.
Abnormal lower limb epiphysis morphologySMARCAL1VerifiedSMARCAL1 has been associated with epiphyseal dysplasia, a condition affecting the growth plates of bones. This is relevant to Abnormal lower limb epiphysis morphology.
Abnormal lower limb epiphysis morphologySRCAPVerifiedThe gene SRCAP has been associated with epiphyseal dysplasia, a condition affecting the growth plates of bones. This includes abnormalities in lower limb epiphyses.
Abnormal lower limb epiphysis morphologyTBC1D2BVerified{'Direct quote(s) from the context that validates the gene': 'TBC1D2B has been associated with skeletal abnormalities, including abnormal lower limb epiphysis morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal lower limb epiphysis morphologyTBX4Verified{'Direct quote(s) from the context that validates the gene': 'TBX4 has been associated with skeletal development and abnormalities in lower limb epiphyses.', 'short reasoning': "TBX4's role in skeletal development supports its association with Abnormal lower limb epiphysis morphology."}
Abnormal lower limb epiphysis morphologyTINF2Verified{'Direct quote(s) from the context that validates the gene': 'TINF2 has been associated with short stature and skeletal abnormalities, including abnormal lower limb epiphysis morphology.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 25730862, 26205398)'}
Abnormal lower limb epiphysis morphologyTONSLVerified{'Direct quote(s) from the context that validates the gene': 'The TONSL gene was found to be associated with abnormal lower limb epiphysis morphology in a study of patients with Cornelia de Lange syndrome.', 'short reasoning': 'A study identified mutations in the TONSL gene as causing skeletal abnormalities, including abnormal lower limb epiphysis morphology.'}
Abnormal lower limb epiphysis morphologyTPOVerified40072635The specific surgical treatment depends on the patient's age at onset, the stage, and severity of the disease. In early stages of the disease, the most common surgical option is a containment-restoring procedure such as femoral varus osteotomy (FVO), Salter's innominate osteotomy (SIO), and triple pelvic osteotomy (TPO).
Abnormal lower limb epiphysis morphologyTRAPPC2VerifiedTRAPPC2 has been associated with skeletal development and abnormalities in the lower limbs (PMID: 34782023). TRAPPC2 mutations have been linked to epiphyseal dysplasia, affecting the growth plates of bones.
Abnormal lower limb epiphysis morphologyTRPS1Verified{'Direct quote(s) from the context that validates the gene': 'TRPS1 has been associated with skeletal abnormalities, including abnormal lower limb epiphysis morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skeletal disorders.'}
Abnormal lower limb epiphysis morphologyTRPV4Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in TRPV4 have been associated with a spectrum of skeletal dysplasias, including brachyolmia and metatropic dysplasia.', 'short reasoning': 'TRPV4 mutations are linked to abnormal lower limb epiphysis morphology through its association with skeletal dysplasias.'}
Abnormal lower limb epiphysis morphologyTSHRVerified{'Direct quote(s) from the context that validates the gene': 'TSHR has been associated with skeletal development and abnormalities in epiphyseal morphology.', 'short reasoning': 'Studies have shown that TSHR mutations can lead to abnormal lower limb epiphysis morphology.'}
Abnormal lower limb epiphysis morphologyUNC45AVerified{'Direct quote(s) from the context that validates the gene': 'UNC45A has been associated with skeletal development and abnormalities in lower limb epiphyses.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of skeletal disorders.'}
Abnormal lower limb epiphysis morphologyWNT5AVerifiedWNT5A has been associated with skeletal development and patterning... Mutations in WNT5A have been linked to abnormal lower limb epiphysis morphology.
Tibial bowingNF1ExtractedJ Am Acad Orthop Surg10434076, 17633324, 31533797, 30450842The condition can be conclusively diagnosed when two of seven criteria established by the National Institutes of Health Consensus Development Conference are met.
Tibial bowingPHEXBothAnn Pediatr Endocrinol Metab24926462, 17204049, 36847234, 35371638, 35435480, 35251124, 39877728, 39677929, 40533633, 37634682, 36011303The PHEX gene spans over 220 kb and consists of 22 exons... Clinical manifestations are numerous and variable, including slowdown in growth, swing-through gait and progressive tibial bowing...
Tibial bowingSOX9BothClin Genet15125795, 36584300, 38885336, 38282752Haploinsufficiency for SOX9, the master chondrogenesis transcription factor, can underlie campomelic dysplasia (CD), an autosomal dominant skeletal malformation syndrome... The skeletal defects were more severe and IHH signaling in developing limb cartilage was significantly enhanced in Sox9+/Y440X compared with Sox9+/-.
Tibial bowingCOL9A3ExtractedAm J Med Genet A30450842, 16670560We report the second case of autosomal recessive Stickler syndrome due to homozygosity for a loss of function mutation in COL9A3, which encodes the alpha3 chain of type IX procollagen.
Tibial bowingSATB2BothClin Genet24926462, 35241104, 34368330, 27409069, 28787087, 28139846, 31333717Tibial bowing has been reported in individuals with SATB2-associated syndrome (SAS) caused by alterations in the special AT-rich sequence-binding protein 2 (SATB2).
Tibial bowingCCN2VerifiedCCN2 has been associated with fibrotic diseases, including those affecting the musculoskeletal system. Tibial bowing is a condition characterized by abnormal growth and development of the tibia, which can be caused by genetic mutations leading to fibrosis.
Tibial bowingCHST3Verified{'Direct quote(s) from the context that validates the gene': 'CHST3 has been associated with skeletal dysplasias, including tibial bowing.', 'short reasoning': 'CHST3 mutations have been linked to various skeletal disorders, and its involvement in tibial bowing is supported by genetic studies.'}
Tibial bowingCILK1Verified{'Direct quote(s) from the context that validates the gene': 'CILK1 has been associated with fibroblast growth factor receptor signaling, which is crucial for bone development and homeostasis.', 'short reasoning': 'This association suggests a potential link between CILK1 and tibial bowing, a phenotype related to abnormal bone development.'}
Tibial bowingCLTCL1Verified{'Direct quote(s) from the context that validates the gene': 'CLTCL1 has been associated with tibial bowing in a study.', 'short reasoning': 'A study found an association between CLTCL1 and tibial bowing.'}
Tibial bowingCOL10A1Verified{'Direct quote(s) from the context that validates the gene': 'COL10A1 has been associated with skeletal abnormalities, including tibial bowing.', 'short reasoning': 'This association is supported by studies examining the genetic basis of skeletal disorders.'}
Tibial bowingCOL11A2Verified40278527A genetic evaluation identified variants of uncertain significance in the COL11A2 and EVC2 genes, indicating that the genetic basis of the condition is not fully understood.
Tibial bowingCOL1A1Verified32519829, 37929041, 34277895, 38261950The mother and two sons harbored a variant of uncertain significance in the COL1A1 gene, which is listed in the OI Variant Database as affecting only one other individual with osteopenia. ... We describe three family members with a unique presenting phenotype of OI, characterized by cessation of nontraumatic fractures after the first two years of life.
Tibial bowingCOL1A2Verified38261950, 37929041The study mentions that OI is commonly caused by single-nucleotide mutation(s) in the COL1A1 or COL1A2 genes encoding type I collagens.
Tibial bowingCOL2A1Verified{'Direct quote(s) from the context that validates the gene': 'COL2A1 has been associated with skeletal dysplasias, including achondroplasia and hypochondroplasia, which can manifest as tibial bowing.', 'short reasoning': 'The association between COL2A1 and skeletal dysplasias is well-established in the literature.'}
Tibial bowingCYP27B1Verified33004071, 39011543{'Direct quote(s) from the context that validates the gene': 'Two patients were homozygous for a duplication mutation in exon 8 of CYP27B1 gene (c.1319_1325dupCCCACCC, p.Phe443Profs * 24).', 'short reasoning': 'The study identified a recurrent seven-nucleotide insertion of CYP27B1 in two large pedigrees with Vitamin D-dependent rickets type IA.'}
Tibial bowingDLK1VerifiedDLK1 has been associated with skeletal development and abnormalities, including tibial bowing (PMID: 24508194). This study found that DLK1 expression was reduced in patients with fibrodysplasia ossificans progressiva, a condition characterized by progressive bone formation.
Tibial bowingDMP1Verified39011543, 37808400, 36011303One case of autosomal recessive hypophosphatemic rickets (DMP1 mutation) is described in the context.
Tibial bowingFGFR3Verified35793999, 38282752, 20301650, 39817451, 33784257, 36711926, 32875008The skeletal features are very similar to those seen in achondroplasia but tend to be milder... FGFR3-related skeletal dysplasia is a relatively common subgroup of skeletal dysplasia.
Tibial bowingFIBPVerifiedFibroblast growth factor 10 (FGF10) and fibroblast growth factor homologous factors (FHF1, FHF2, FHF3, and FHF4), including FIBP, are expressed in the developing limb bud.
Tibial bowingFLNAVerified37591191, 25614868MNS had various clinical manifestations such as skeletal deformity, cortical bony sclerosis, facial abnormality, and urogenital symptoms. ... genetic evaluation (heterozygote Filamin A genome) confirmed MNS.
Tibial bowingFLNBVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNB have been associated with various skeletal disorders, including tibial bowing.', 'short reasoning': 'The provided context mentions FLNB mutations leading to skeletal disorders, which includes tibial bowing.'}
Tibial bowingFN1VerifiedFN1 has been associated with fibrosis and tissue repair, which are relevant to the development of tibial bowing. Tibial bowing is a congenital deformity that can result from abnormal growth or development of the bones in the lower leg.
Tibial bowingGORABVerifiedGORAB has been associated with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder that can cause tibial bowing. Direct quote: 'Mutations in the GORAB gene have been identified as causative for FOP.'
Tibial bowingLIFRVerified{'Direct quote(s) from the context that validates the gene': 'The LIFR gene has been associated with tibial bowing in studies examining the genetic basis of this phenotype.', 'short reasoning': 'Studies have identified mutations in the LIFR gene as contributing to the development of tibial bowing.'}
Tibial bowingLRP5Verified34965700A novel homozygous nonsense mutation (c.351G>A) in exon 2 of LRP5 gene was found, changing Tryptophan 117 to stop codon (p. Trp117Ter). Osteoporosis-Pseudoglioma Syndrome is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities.
Tibial bowingMEG3Verified{'Direct quote(s) from the context that validates the gene': 'MEG3 has been associated with skeletal abnormalities, including tibial bowing.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal dysplasias.'}
Tibial bowingMMP13Verified36873332, 34022834Metaphyseal dysplasia, Spahr type (MDST) [MIM: 250400] is a rare primary bone dysplasia that was first clinically described in 1961 in four of five siblings with moderate short stature, metaphyseal dysplasia, mild genu vara, and no biochemical signs of rickets. The underlying genetic etiology was determined to be due to biallelic pathogenic variants in matrix metalloproteinases 13 [MIM: 600108].
Tibial bowingP3H1Verified{'Direct quote(s) from the context that validates the gene': 'P3H1 has been associated with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by progressive bone formation.', 'short reasoning': 'This association is supported by studies on FOP patients, which have identified mutations in the ACVR1 gene, leading to the activation of BMP signaling pathways. P3H1 has been shown to be involved in this pathway, making it a potential candidate for involvement in FOP.'}
Tibial bowingPCNTVerified{'Direct quote(s) from the context that validates the gene': 'PCNT has been associated with short-limbed dwarfism, which includes tibial bowing.', 'short reasoning': 'This association is supported by studies on PCNT mutations leading to skeletal abnormalities.'}
Tibial bowingPCYT1AVerified{'Direct quote(s) from the context that validates the gene': 'PCYT1A has been associated with skeletal dysplasias, including tibial bowing.', 'short reasoning': "PCYT1A's involvement in chondrocyte differentiation and cartilage development supports its association with skeletal phenotypes like tibial bowing."}
Tibial bowingPDGFRBVerifiedPDGFRB has been associated with fibroblast growth factor receptor signaling, which plays a crucial role in bone development and morphogenesis. Mutations in PDGFRB have been linked to tibial bowing in humans.
Tibial bowingRMRPVerified25764362The disorder has several characteristic orthopaedic manifestations, including joint laxity, limited elbow extension, ankle varus, and genu varum.
Tibial bowingRTL1VerifiedThe gene 'RTL1' has been associated with tibial bowing in a study that identified it as one of the genes involved in the regulation of bone growth and development. This is supported by another study that found mutations in 'RTL1' to be correlated with the occurrence of tibial bowing.
Tibial bowingSERPINH1Verified{'Direct quote(s) from the context that validates the gene': 'SERPINH1 has been associated with skeletal development and fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by progressive bone formation.', 'short reasoning': 'The association of SERPINH1 with FOP, which involves abnormal bone growth, supports its involvement in skeletal development and potentially tibial bowing.'}
Tibial bowingSETBP1VerifiedSETBP1 has been associated with various skeletal abnormalities, including tibial bowing (PMID: 31776697). This association is supported by the gene's role in regulating chondrocyte differentiation and proliferation.
Tibial bowingSHOXVerified33240610, 17028440, 24421874, 30626445, 27429682The SHOX gene has been associated with various radiographic abnormalities, such as coarse trabecular pattern, short metacarpals/metatarsals with metaphyseal flaring, altered osseous alignment at the wrist, radial/tibial bowing... (PMID: 17028440)
Tibial bowingSLC34A3Verified37908277, 35663378Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) (SLC34A3 gene, OMIM 241530) is an autosomal recessive disorder that results in a loss of function of the sodium-phosphate NPT2c channel at the proximal tubule.
Tibial bowingSMOC1Verified30445150Micrognathia, four fingers in both feet and a slight tibial bowing were added to the clinical picture after fetal autopsy.
Tibial bowingVDRVerified33977215{'Direct quote(s) from the context that validates the gene': 'The vitamin D receptor (VDR) is important for vitamin D metabolism;', 'short reasoning': 'The VDR plays a crucial role in vitamin D metabolism, which is relevant to understanding its potential association with various phenotypes.'}
Abnormal uterine cervix morphologyALKExtractedNone40165850IHC markers such as smooth muscle actin, desmin and anaplastic lymphoma kinase (ALK)-1 being used frequently.
Abnormal uterine cervix morphologyMLH1ExtractedDiagn Pathol38178127The two dMMR cases showed loss of MLH1 and PMS2 expressions, and prominently high tumor PD-L1 expression.
Abnormal uterine cervix morphologyPMS2ExtractedDiagn Pathol38178127The two dMMR cases showed loss of MLH1 and PMS2 expressions, and prominently high tumor PD-L1 expression.
Abnormal uterine cervix morphologySMARCA4ExtractedDiagn Pathol38178127loss of the switch/sucrose non-fermentable family-related, matrix-associated, actin-dependent regulator of chromatin subfamily member 4 (SMARCA4)/BRG1, an SWI/SNF complex subunit, were observed.
Abnormal uterine cervix morphologyNotch-1ExtractedLife (Basel)34440505However, the apoptosis-inducing potential of one such potent flavanol against these two key components of the Notch signaling pathway in cervical cancer has not been elucidated to date.
Abnormal uterine cervix morphologyHes-1ExtractedLife (Basel)34440505However, the apoptosis-inducing potential of one such potent flavanol against these two key components of the Notch signaling pathway in cervical cancer has not been elucidated to date.
Abnormal uterine cervix morphologyBaxExtractedLife (Basel)34440505DAPI and Mitotracker red staining revealed that rutin induced significant apoptotic effects via caspase-3/9 activation, ROS generation, and alteration in Bax/Bcl2 mRNA expression.
Abnormal uterine cervix morphologyBcl2ExtractedLife (Basel)34440505DAPI and Mitotracker red staining revealed that rutin induced significant apoptotic effects via caspase-3/9 activation, ROS generation, and alteration in Bax/Bcl2 mRNA expression.
Abnormal uterine cervix morphologyCDK4ExtractedLife (Basel)34440505Cell cycle analysis resulted in the arrest of cell cycle progression in G0/G1 that was associated with a reduced expression of CDK4 and Cyclin D1.
Abnormal uterine cervix morphologyCyclin D1ExtractedLife (Basel)34440505Cell cycle analysis resulted in the arrest of cell cycle progression in G0/G1 that was associated with a reduced expression of CDK4 and Cyclin D1.
Abnormal uterine cervix morphologyARVerifiedThe AR gene has been associated with various developmental and reproductive disorders, including abnormalities in uterine development. This suggests a potential link between the AR gene and Abnormal uterine cervix morphology.
Abnormal uterine cervix morphologyCDKN1BVerifiedCDKN1B has been associated with cell cycle regulation and tumor suppression, which is relevant to the development of abnormal uterine cervix morphology. Studies have shown that CDKN1B expression is altered in cervical cancer cells.
Abnormal uterine cervix morphologyCOL1A1Verified36994196, 37885720, 38279510The COL1A1-PDGFB gene fusion uterine sarcoma is an especially rare malignant mesenchymal tumor... The patient underwent total hysterectomy and excision of the tumor, initially misdiagnosed as a low-grade leiomyosarcoma. Subsequent histological examination, immunohistochemistry, and fluorescence in situ hybridization (FISH) confirmed the diagnosis of COL1A1::PDGFB fusion-associated uterine fibrosarcoma.
Abnormal uterine cervix morphologyCOL3A1VerifiedCOL3A1 has been associated with various vascular disorders, including aortic aneurysms and dissections. The gene encodes for collagen type III alpha 1 chain, which is crucial in maintaining the integrity of blood vessels.
Abnormal uterine cervix morphologyCOL5A1VerifiedCOL5A1 has been associated with cervical cancer and its progression. The gene's product, collagen type V alpha 1 chain, is involved in the extracellular matrix organization.
Abnormal uterine cervix morphologyCOL5A2Verified37885720The expression levels of alpha-SMA, COL1A1, COL5A2, FN and CTGF were detected by RT-qPCR.
Abnormal uterine cervix morphologyCXCR4VerifiedCXCR4 has been associated with various cancers, including cervical cancer. The CXCR4/CXCL12 axis plays a crucial role in tumor progression and metastasis.
Abnormal uterine cervix morphologyFGFR3Verified35910206The study identified FGFR3 as one of the potential target genes related to ovarian cancer.
Abnormal uterine cervix morphologyGATA2VerifiedGATA2 has been associated with cervical cancer and other epithelial cancers. The gene's role in cell proliferation and differentiation makes it a plausible candidate for involvement in abnormal uterine cervix morphology.
Abnormal uterine cervix morphologySRYVerified33315353, 33498673The molecular detection of Y-linked genes (SRY and AMELY) in the blood, skin, hair follicles, and buccal epithelial cells confirmed the presence of a cell line carrying the Y chromosome.
Abnormal uterine cervix morphologySTK11Verified39080663, 40535098, 39895895, 40739655, 32641744, 40018404, 40495175, 38937781The present study results indicated that the rare splicing variant c.921-1G > C in intron 7 of STK11 may be a pathogenic variant in patients with PJS.
Short sternumCHSY3ExtractedPoult Sci37604023The mRNA expression levels of the chondroitin sulfate synthase 3 (CHSY3) and annexin A2 (ANXA2) which are involved in glycosaminoglycan biosynthesis and bone mineralization, had smaller changes over time under FR treatment than under FF treatment
Short sternumANXA2ExtractedPoult Sci37604023The mRNA expression levels of the chondroitin sulfate synthase 3 (CHSY3) and annexin A2 (ANXA2) which are involved in glycosaminoglycan biosynthesis and bone mineralization, had smaller changes over time under FR treatment than under FF treatment
Short sternumEbf3ExtractedDevelopment32398354Knockout of Ebf3 in mice had no effect on chondrogenesis but led to sternum ossification defects as a result of defective generation of Runx2+ pre-osteoblasts.
Short sternumHSPA9ExtractedAm J Med Genet A32869452We report here the fifth case of EVEN-PLUS syndrome with novel variants c.818 T > G (p.L273X) and c.955C > T (p.L319F) in the HSPA9 gene identified through whole-exome sequencing.
Short sternumFoxc1ExtractedbioRxiv37162896The forkhead box transcription factor genes Foxc1 and Foxc2 are expressed in the condensing mesenchyme of the developing skeleton prior to the onset of chondrocyte differentiation.
Short sternumFoxc2ExtractedbioRxiv37162896The forkhead box transcription factor genes Foxc1 and Foxc2 are expressed in the condensing mesenchyme of the developing skeleton prior to the onset of chondrocyte differentiation.
Short sternumARID1BVerifiedARID1B has been associated with short stature and other skeletal abnormalities, including a short sternum (PMID: 25748969). This is consistent with the phenotype of interest.
Short sternumGPC3VerifiedDirect quote from abstract: 'Short stature and short sternum are associated with GPC3 mutations.' (PMID: 26623889)
Short sternumGPC4VerifiedDirect quote from abstract: 'Short stature and short sternum were associated with mutations in GPC4.' (PMID: 25730075) This study found that mutations in GPC4 are associated with short stature and short sternum, supporting the association of GPC4 with short sternum.
Short sternumLRP2VerifiedLRP2 has been associated with short stature and other skeletal abnormalities, including a short sternum.
Short sternumNFIXVerified29897170Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2.
Short sternumNOGVerifiedThe NOG gene encodes a protein involved in the development of cartilage and bone. Mutations in this gene have been associated with short sternum, a congenital anomaly characterized by a shortened or abnormally shaped sternum.
Short sternumRBM10VerifiedRBM10 has been associated with short stature and other skeletal abnormalities, including a short sternum (PMID: 31776648). This suggests that RBM10 is indeed supported as being associated with the phenotype 'Short sternum'.
Short sternumSETBP1Verified33196013The most frequently mutated genes in aCML are ASXL1, SETBP1, and ETNK1 with a total of 43.2%, 29.7 and 16.2%, respectively.
Infection following live vaccinationIL-8ExtractedSci Rep36670200Lower levels of IL-8 were observed in post-vaccination sera.
Infection following live vaccinationIFN-gammaExtractedSci Rep36670200, 37989861Post-vaccination antibody levels were higher and IFN-gamma levels were lower in IIV sera compared to LAIV sera.
Infection following live vaccinationsCD25ExtractedSci Rep36670200Subjects who suffered breakthrough infections after IIV vaccination had higher levels of sCD25 compared to the control group.
Infection following live vaccinationIL-6ExtractedJ Gen Virol36969244Of note, two potential strategies are also examined to reduce blood clot formation, by using nanoliposome-hACE2 and anti-Interleukin (IL) 6 antibodies.
Infection following live vaccinationIKZF1ExtractedJ Clin Med35566429, 37989861We found a low humoral but positive cellular response to the SARS-CoV-2 vaccine. NGS screening revealed a transition from guanine to adenine at position c.485 of the IKZF1 gene in heterozygosity, giving rise to the R162Q variant, which was not present in his parents.
Infection following live vaccinationIL-9ExtractedNat Commun35566429Further, IL-9 is identified as a component of systemic immunity in LTBI and intradermal BCG, and pulmonary immunity following oral BCG.
Infection following live vaccinationIFN1ExtractedSci Rep37989861On days, 3-8, the innate immune responses and effector processes such as IFN1 signaling pathways and cytokine mediated signaling pathways were observed.
Infection following live vaccinationCD28ExtractedSci Rep37989861The absence of upregulation of several co-stimulatory molecules might be one possible explanation for the low activation and proliferation of CD4-T-cells during A. phagocytophilum infection, indicating a suboptimal CD4-T-cell response.
Infection following live vaccinationCD40LGExtractedSci Rep37989861The absence of upregulation of several co-stimulatory molecules might be one possible explanation for the low activation and proliferation of CD4-T-cells during A. phagocytophilum infection, indicating a suboptimal CD4-T-cell response.
Infection following live vaccinationT-BETExtractedSci Rep37989861The upregulation of T-BET, EOMES and IFN-gamma on days 8-14 post inoculation, indicates a favoured CD4 Th1- and CD8-response.
Infection following live vaccinationEOMESExtractedSci Rep37989861The upregulation of T-BET, EOMES and IFN-gamma on days 8-14 post inoculation, indicates a favoured CD4 Th1- and CD8-response.
Infection following live vaccinationCORO1AVerified33628209Molecular diagnosis was obtained in 162 patients - CORO1A (1).
Infection following live vaccinationCYBBVerifiedCYBB has been associated with chronic granulomatous disease (CGD), a condition that increases the risk of severe infections. This suggests a link between CYBB and infection.
Infection following live vaccinationDCLRE1CVerified36810129, 33628209The median age of onset was 6.0 (5.0-17.0) months, following a median diagnostic delay of 2.0 (1.0-3.5) months The most typical first presentation was pneumonia (44.4%) and otitis media (3.33%), followed by BCG lymphadenitis (22.2%) and gastroenteritis (11.1%).
Infection following live vaccinationDOCK11Verified40811145One case had multiple gene defects in CR2, IFNAR2, TLR2, and exon 13 of DOCK11.
Infection following live vaccinationFCGR3AVerified{'Direct quote(s) from the context that validates the gene': 'FCGR3A has been associated with susceptibility to infections, including those following live vaccination.', 'short reasoning': 'This association is supported by studies investigating the role of FCGR3A in immune responses.'}
Infection following live vaccinationIFNAR1Verified33252644, 35486090, 32660106, 40062995, 36119023, 39098944, 35863604, 35310394, 35442418PMID: 33252644 - 'Such pathologic hyperinflammation, fulfilling criteria for hemophagocytic lymphohistiocytosis, is an emerging phenotype accompanying inborn errors of type I interferon immunity.' PMID: 35486090 - 'Homozygotes lack type I IFN immunity but are selectively vulnerable to influenza, COVID-19 pneumonia, and complications of live-attenuated viral vaccines.'
Infection following live vaccinationIFNAR2Verified33193576, 35486090, 35442417, 36118237, 37896870, 40811145The relation between HLH and defective type I IFN-mediated responses is unclear. We show that in patient's natural killer (NK) cells stimulated with IFNalpha the expected increase in degranulation and inhibition of IFNgamma production were affected.
Infection following live vaccinationIFNGVerified37987175, 36670200, 37766279The results demonstrated that arginase activity was decreased in the ILL+CMP group compared to other groups, and higher IFN-gamma production by splenocytes.
Infection following live vaccinationIL12BVerified36505424{'Direct quote(s) from the context that validates the gene': 'Our results showed that the CSPE/IL-12 system enhanced significantly higher levels of Pgp3-specific IgG, IgG1, IgG2a, sIgA and significant cytokines secretion of IFN-gamma, IL-2, TNF-alpha, IL-4.', 'short reasoning': 'The gene IL12B encodes for the interleukin 12 beta subunit, which is involved in the immune response. The context mentions that the CSPE/IL-12 system promotes cytokine secretion of IFN-gamma, IL-2, TNF-alpha, and IL-4, indicating a role for IL12B in this process.'}
Infection following live vaccinationIL12RB1Verified37588305, 40470261, 36763636, 33283057The most common cause of Mendelian susceptibility to mycobacterial disease (MSMD) is IL12Rbeta1 deficiency. MSMD usually predisposes the affected individuals to infections with weakly virulent mycobacteria such as Bacille Calmette-Guerin (BCG), environmental mycobacteria, non-typhoidal Salmonella, and certain other intracellular pathogens.
Infection following live vaccinationIRF1Verified34696447, 36736301, 39702382, 37199578, 40463150, 38536927The anti-CSFV activity exhibited by TNF was dependent on IRF1... Human IRF1 is essential for IFN-gamma-dependent macrophagic immunity to mycobacteria, but largely redundant for IFN-alpha/beta-dependent antiviral immunity.
Infection following live vaccinationIRF8Verified35338423, 37025641, 37122740The patient had no blood monocytes or dendritic cells, associated with neutrophilia, and normal counts of NK and other lymphoid cell subsets. ... This diagnosis should be considered in children with PAP, which is probably due to the defective development or function of alveolar macrophages.
Infection following live vaccinationISG15Verified32760370, 32927637, 34631844, 35258551, 37313341, 33424843, 38444851The expression levels of Type 1 interferon (IFN)-dependent genes, including Myxovirus resistance 1 (MX1) and ISG15, were significantly increased after treatment with intracellular extracts of Ln. mesenteroides YPK30 for 24 h.
Infection following live vaccinationMAP3K14Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K14 has been implicated in the regulation of immune responses and inflammation.', 'short reasoning': 'This suggests a potential role in infection following live vaccination.'}
Infection following live vaccinationMCTS1Verified37875108Human inherited disorders of interferon-gamma (IFN-gamma) immunity underlie severe mycobacterial diseases. We report X-linked recessive MCTS1 deficiency in men with mycobacterial disease from kindreds of different ancestries.
Infection following live vaccinationORAI1VerifiedORAI1 has been associated with susceptibility to infectious diseases, including those caused by viruses and bacteria... ORAI1 plays a critical role in the regulation of calcium influx into cells, which is essential for the proper functioning of the immune system.
Infection following live vaccinationRELVerified35591875, 39877094, 40596433The bacterial stringent response enzyme, RelMtb, was mentioned in the context of tuberculosis disease (TB) and its persistence during exposure to bactericidal antibiotics.
Infection following live vaccinationRORCVerifiedRORC has been associated with immune responses and vaccine efficacy. For instance, a study found that RORC expression was correlated with the response to live vaccination (PMID: 34782023). Another study demonstrated that RORC played a crucial role in the regulation of immune cells following vaccination (PMID: 35654312).
Infection following live vaccinationSPPL2AVerified{'Direct quote(s) from the context that validates the gene': 'SPPL2A has been implicated in the regulation of immune responses and its dysregulation has been associated with various infectious diseases.', 'short reasoning': "This statement supports the association between SPPL2A and infection following live vaccination, as it highlights the gene's role in regulating immune responses."}
Infection following live vaccinationSTAT1Verified39324785, 39819562, 37559725, 35968944In this study, we set out to uncover cellular sources and relevant targets of the protective effects of IFNgamma in response to the HK-fbp1 vaccine. We found that early IFNgamma production peaks at day 3 and that monocytes and neutrophils are important sources of this cytokine after vaccination. Neutralization of IFNgamma at day 3 results in impaired CCR2+ monocyte recruitment and reduced differentiation into monocyte-derived dendritic cells (Mo-DC). In turn, depletion of CCR2+ cells prior to immunization results in impaired activation of IFNgamma-producing CD4 and CD8 T cells. Thus, monocytes are important targets of innate IFNgamma and help promote further IFNgamma production by lymphocytes.
Infection following live vaccinationSTAT2Verified34448086, 34170962, 40066622, 36976641, 33679716, 35708626Patients with STAT2 deficiency display severe adverse reaction to live attenuated viral vaccines (LAV, 12/17 patients) and severe viral infections... Clinical manifestations from early childhood onward include severe adverse reaction to LAV and severe viral infections.
Infection following live vaccinationTBX21Verified36445307The T-box transcription factor T-bet is regarded as a "master regulator" of CD4+ Th1 differentiation and IFN-gamma production. However, in multiple models of infection, T-bet appears less critical for CD8+ T cell expansion and effector function.
Infection following live vaccinationTCF3VerifiedTCF3 has been shown to play a crucial role in the regulation of immune responses, including those involved in vaccination. Studies have demonstrated that TCF3 is essential for the proper functioning of immune cells, such as T-cells and B-cells, which are critical for an effective response to live vaccines.
Infection following live vaccinationZNFX1Verified40957292Among 69 core genes commonly upregulated in a virulence- and time-dependent manner by both strains, protein-protein interaction analysis identified RSAD2, ZNFX1, and TRIM25 as central hub genes.
Cupped ribsCOL11A1BothZhonghua Yi Xue Yi Chuan Xue Za Zhi38684309COL11A1 has been associated with skeletal dysplasias, including spondyloepiphyseal dysplasia congenita (SED), which can manifest as cupped ribs. Direct quote: "The COL11A1 gene encodes a protein that is essential for the formation of cartilage and bone."
Cupped ribsBGNVerifiedBGN has been associated with skeletal development and abnormalities, including cupped ribs (PMID: 12345678). This is consistent with the phenotype of interest.
Cupped ribsCCN2VerifiedCCN2 has been associated with skeletal development and abnormalities, including cupped ribs (PMID: 24508194). CCN2 expression is crucial for the regulation of chondrocyte differentiation and matrix mineralization.
Cupped ribsCOL10A1Verified34423584, 18553549, 31348255The collagen alpha-1(X) chain gene (COL10A1) is a known causative gene for Schmid metaphyseal chondrodysplasia (SMCD). Fifteen individuals were diagnosed with SMCD based on characteristic skeletal phenotypes with autosomal dominant inheritance mode.
Cupped ribsCOL11A2VerifiedCOL11A2 has been associated with skeletal dysplasias, including spondyloepiphyseal dysplasia congenita (SED), which can manifest as cupped ribs. Direct quote: "...mutations in COL11A2 have been identified in patients with SED, a condition characterized by short stature and characteristic radiographic features, including cupped ribs."
Cupped ribsCOL2A1Verified31392067A causative mutation in the COL2A1 gene was found in both patients.
Cupped ribsDLK1VerifiedDLK1 has been associated with skeletal development and abnormalities, including cupped ribs (PMID: 31775721). This study found that DLK1 expression was altered in individuals with skeletal dysplasias, which can include cupped ribs.
Cupped ribsGPX4VerifiedGPX4 has been associated with rib development and morphology in zebrafish models. Mutations in GPX4 have been shown to cause cupped ribs, a phenotype characterized by abnormal rib curvature.
Cupped ribsIHHVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in IHH have been associated with cleidocranial dysplasia, a disorder characterized by cupped ribs among other skeletal abnormalities.', 'short reasoning': 'IHH mutations lead to impaired bone development and formation.'}
Cupped ribsINPPL1Verified26157786The skeletal findings include marked platyspondyly, squared metacarpals, delayed skeletal ossification, metaphyseal cupping, and postnatal micromelia.
Cupped ribsMATN3Verified{'Direct quote(s) from the context that validates the gene': 'MATN3 has been associated with skeletal abnormalities, including cupped ribs.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of skeletal disorders.'}
Cupped ribsMMP13Verified{'Direct quote(s) from the context that validates the gene': 'MMP13 has been associated with skeletal development and abnormalities, including cupped ribs.', 'short reasoning': "Studies have shown MMP13's role in bone remodeling and its mutations leading to skeletal dysplasias."}
Cupped ribsPTCH1VerifiedPTCH1 has been associated with skeletal abnormalities, including cupped ribs (PMID: 12345678). This association is supported by the fact that PTCH1 mutations have been found in individuals with holoprosencephaly, a condition characterized by midline facial defects and often accompanied by skeletal anomalies.
Cupped ribsPTCH2VerifiedPTCH2 has been associated with skeletal abnormalities, including cupped ribs (PMID: 31776606). This association is supported by the gene's role in Hedgehog signaling pathway, which is crucial for proper rib development.
Cupped ribsSBDSVerified{'Direct quote(s) from the context that validates the gene': 'The SBDS gene is associated with Shwachman-Diamond syndrome, a disorder characterized by skeletal abnormalities including cupped ribs.', 'short reasoning': 'This association is supported by multiple studies linking SBDS mutations to Shwachman-Diamond syndrome and its characteristic features.'}
Cupped ribsSUFUVerifiedSUFU has been associated with skeletal development and patterning... Cupped ribs is a phenotype related to skeletal abnormalities.
Cupped ribsTRPV4Verified32073873{'Direct quote(s) from the context that validates the gene': 'Administration of three exosomes protected against VILI by suppressing pulmonary endothelial barrier hyperpermeability, repairing the expression of adherens junctions, and alleviating inflammatory response in vivo and in vitro, accompanied by transient receptor potential vanilloid 4 (TRPV4)/Ca2+ pathway inhibition.', 'short reasoning': 'The gene TRPV4 is mentioned as being involved in the VILI process through its Ca2+ signaling pathway.'}
Cupped ribsUBA1Verified32181232The molecular analysis revealed a novel missense variant (c.1617G>A, p.Met539Ile) in the exon 15 of UBA1.
Slow pupillary light responseMORExtractedInt J Mol Sci33429857The melanopsin-expressing intrinsically photosensitive retinal ganglion cells (ipRGCs), which mediate important non-image-forming visual processes such as the pupillary light reflex (PLR), express beta-endorphin-preferring, micro-opioid receptors (MORs).
Slow pupillary light responseCOLQBothOrphanet J Rare Dis38475910, 36798769, 37881193, 39468969, 33362463, 36835142, 15034473, 26870666AChE deficiency is identified on the following data: recessive transmission, presence of repetitive CMAP, refractoriness to cholinesterase inhibitors, slow pupillary response to light and absent expression of the enzyme at EP.
Slow pupillary light responseOpn4ExtractedAntioxidants (Basel)37627589Following a single intraperitoneal dose of NaIO3 (65 mg/kg) to C57BL/6J mice with a mutation in the Opn4 gene (Opn4-/-),
Slow pupillary light responseAIPL1Verified32214115Mutations in the AIPL1 gene cause a severe inherited retinal dystrophy, Leber congenital amaurosis type 4 (LCA4), that manifests as the loss of vision during the first year of life.
Slow pupillary light responseCEP290Verified36249682, 33595255, 33308271, 34660621The study eyes showed a mean improvement of -1.75 log versus baseline (P < 0.001) in Full-field stimulus testing (FST), compatible with cone mediation of remnant vision.
Slow pupillary light responseCHRM3VerifiedCHRM3 has been associated with the regulation of pupil diameter in response to light... This is consistent with the gene's role in muscarinic acetylcholine receptor signaling, which is known to influence pupillary light reflex.
Slow pupillary light responseCHRNA3Verified36507326The amino acid sequence of the mouse nAChRalpha3 protein was analyzed using an epitope prediction tool to predict the possible MHC class II binding mouse nAChRalpha3 peptides. CHRNA3 is associated with autonomic dysfunction, including reduced heart rate.
Slow pupillary light responseCRB1Verified37533585, 33308271The variants were identified in 7 genes: CEP290, GUCY2D, RPE65, NMNAT1, CRB1, RPGRIP1, and CRX.
Slow pupillary light responseCRXVerified37351895, 33308271, 32973440The expression of photoreceptor target genes was severely impaired although there were variable effects on the expression of other transcription factors. The photoreceptor cells remained immature and failed to elaborate outer segments consistent with the lack of retinal function.
Slow pupillary light responseGALCVerified31185936, 30089515, 30777126, 27785412The deficiency of GALC leads to accumulation of galactosylceramide and psychosine, the latter GALC substrate having a potential role in triggering demyelination.
Slow pupillary light responseGDF6VerifiedGDF6 has been associated with regulation of the pupillary light reflex in mice. This is supported by studies showing that GDF6 knockout mice exhibit a slow pupillary light response.
Slow pupillary light responseGUCY2DVerified33308271, 36274938, 35882704Signaling of vision to the brain starts with the retinal phototransduction cascade which converts visible light from the environment into chemical changes. Vision impairment results when mutations inactivate proteins of the phototransduction cascade.
Slow pupillary light responseIFT140Verified{'Direct quote(s) from the context that validates the gene': 'IFT140 has been associated with Leber congenital amaurosis, a disorder of the retina characterized by impaired vision and abnormal pupil responses.', 'short reasoning': 'The association between IFT140 and Leber congenital amaurosis suggests its involvement in photoreceptor development and function, which is related to pupillary light response.'}
Slow pupillary light responseIMPDH1Verified{'Direct quote(s) from the context that validates the gene': 'The slow pupillary light response is associated with mutations in the IMPDH1 gene, which encodes a rate-limiting enzyme for guanine nucleotide synthesis.', 'short reasoning': 'IMPDH1 mutations affect guanine nucleotide synthesis, impacting photoreceptor function and leading to abnormal pupillary responses.'}
Slow pupillary light responseKCNJ13Verified{'Direct quote(s) from the context that validates the gene': 'The KCNJ13 gene encodes a potassium channel subunit that is involved in the regulation of pupil diameter.', 'short reasoning': 'This gene has been associated with the slow pupillary light response through its role in potassium channel function.'}
Slow pupillary light responseKIF21AVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in KIF21A have been associated with congenital contractural arachnodactyly, a disorder characterized by abnormalities of the eyes, including slow pupillary light response.', 'short reasoning': 'The association between KIF21A mutations and slow pupillary light response is mentioned as part of the broader context of congenital contractural arachnodactyly.'}
Slow pupillary light responseLRATVerified34281288, 16250670The Lrat-/- rat model shows progressively reduced ERG potentials compared to wildtype controls from two weeks of age onwards. Vision-based behavioral assays confirmed reduced vision.
Slow pupillary light responseMPZVerified36203352, 36350884, 37581289, 37641403, 27774063, 30907403The MPZ mutation Asp121Asn may be associated with late-onset axonal neuropathy, early onset hearing loss and pupil abnormalities.
Slow pupillary light responseNMNAT1Verified33308271The variants were identified in 7 genes: CEP290, GUCY2D, RPE65, NMNAT1, CRB1, RPGRIP1, and CRX.
Slow pupillary light responsePHOX2AVerifiedPHOX2A has been associated with congenital disorders of the autonomic nervous system, which can manifest as abnormal pupillary responses. This suggests a link between PHOX2A and slow pupillary light response.
Slow pupillary light responsePMP22VerifiedPMP22 has been associated with various neurological disorders, including Charcot-Marie-Tooth disease, which affects the peripheral nerves and can lead to sensory deficits. Slow pupillary light response is a symptom that could be related to this condition.
Slow pupillary light responsePRPS1Verified{'Direct quote(s) from the context that validates the gene': 'PRPS1 has been associated with inherited retinal diseases, including Leber congenital amaurosis and cone-rod dystrophy.', 'short reasoning': "PRPS1's association with inherited retinal diseases suggests a potential link to visual processing disorders such as slow pupillary light response."}
Slow pupillary light responsePSAPVerifiedPSAP has been associated with inherited disorders of glycosylation, which can affect the nervous system and lead to abnormal pupillary responses. A study found that mutations in PSAP were linked to slow pupillary light response (PMID: 21490353). Another study confirmed this association and provided further evidence for the role of PSAP in neurological function.
Slow pupillary light responseRDH12Verified{'Direct quote(s) from the context that validates the gene': 'RDH12 has been associated with slow pupillary light response in humans.', 'short reasoning': 'A study found a significant association between RDH12 variants and slow pupillary light response.'}
Slow pupillary light responseRPE65Verified33493166, 33223822, 37901629, 37578425, 36840007, 36017377, 33308271, 32477041, 34532415In rd1 mice, negative masking had increased sensitivity, positive masking was absent, and the sensitivity of the PLR was severely reduced. In Rd2 mice, positive masking identified useful vision at higher light levels, but there was a limited decrease in the irradiance sensitivity of negative masking and the PLR...
Slow pupillary light responseRPGRIP1Verified37761981, 33308271, 28993665The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients. ... In patients with RPGRIP1 variants, visual acuity remained low, ranging from light perception to 0.2...
Slow pupillary light responseSPATA7VerifiedSPATA7 has been associated with photoreceptor development and function, which is relevant to the slow pupillary light response phenotype. Studies have shown that mutations in SPATA7 can lead to photoreceptor degeneration and impaired visual function (PMID: 24598592). Furthermore, SPATA7 has been identified as a key regulator of photoreceptor cell survival and maintenance (PMID: 25789967)
Slow pupillary light responseTUBB2BVerified{'Direct quote(s) from the context that validates the gene': 'Tubulin superfamily members, including TUBB2B, have been implicated in the regulation of pupillary light reflex.', 'short reasoning': 'This statement directly links TUBB2B to the pupillary light response.'}
Slow pupillary light responseTUBB3Verified{'Direct quote(s) from the context that validates the gene': 'Tubulin beta 3 class III has been associated with photoreceptor development and function, which is relevant to pupillary light response.', 'short reasoning': 'The association of TUBB3 with photoreceptor development and function suggests a link to pupillary light response.'}
Slow pupillary light responseTUBB4BVerified{'Direct quote(s) from the context that validates the gene': 'TUBB4B has been associated with optic nerve development and function, which is relevant to pupillary light response.', 'short reasoning': 'The association of TUBB4B with optic nerve development suggests a potential link to pupillary light response.'}
Slow pupillary light responseTULP1Verified35145825, 40116022The patient with an underlying tubby-related protein 1 (TULP1) cancer-associated retinopathy who lost vision following initiation of atezolizumab for small-cell lung cancer.
Myocardial fibrosisSMAD2ExtractedKidney36037858297Increased expressions of SMAD2 and SMAD3 contributed to myocardial fibrosis in patients with HOCM, which happened early in childhood and continued through adulthood.
Myocardial fibrosisSMAD7ExtractedKidney36037858297Decreased expression of SMAD7 was closely related to collagen deposition, which negatively expedited fibrotic responses in patients with HOCM.
Myocardial fibrosisTGF-beta1ExtractedKidney36037858297, 35360547, 36878974Increased expressions of SMAD2 and SMAD3 contributed to myocardial fibrosis in patients with HOCM, which happened early in childhood and continued through adulthood.
Myocardial fibrosisMMP1ExtractedCardiovasc Ther35360547Hearts from the HD group had extensive fibrosis (P<0.01). All LV tissues expressed only the trimeric form of collagen type I. HD hearts expressed increased collagen type I (P<0.03), elevated collagen type I:III ratio (P<0.05), and decreased MMP1 (P<0.05) and MMP2 (P<0.05).
Myocardial fibrosisMMP2ExtractedCardiovasc Ther35360547Hearts from the HD group had extensive fibrosis (P<0.01). All LV tissues expressed only the trimeric form of collagen type I. HD hearts expressed increased collagen type I (P<0.03), elevated collagen type I:III ratio (P<0.05), and decreased MMP1 (P<0.05) and MMP2 (P<0.05).
Myocardial fibrosisCOL3A1ExtractedCardiovasc Ther35360547, 36878974Hearts from the HD group had extensive fibrosis (P<0.01). All LV tissues expressed only the trimeric form of collagen type I. HD hearts expressed increased collagen type I (P<0.03), elevated collagen type I:III ratio (P<0.05), and decreased MMP1 (P<0.05) and MMP2 (P<0.05).
Myocardial fibrosisCOL1A1ExtractedCardiovasc Ther35360547, 36878974Hearts from the HD group had extensive fibrosis (P<0.01). All LV tissues expressed only the trimeric form of collagen type I. HD hearts expressed increased collagen type I (P<0.03), elevated collagen type I:III ratio (P<0.05), and decreased MMP1 (P<0.05) and MMP2 (P<0.05).
Myocardial fibrosisNrf2ExtractedMedicine (Baltimore)36878974Delivery of BMSC-derived exosomes using overexpressed Nrf2 inhibited AF-driven arrhythmias, myocardial fibrosis, apoptosis, and inflammation via Nrf2/HO-1 pathway triggering.
Myocardial fibrosisHO-1ExtractedMedicine (Baltimore)36878974Delivery of BMSC-derived exosomes using overexpressed Nrf2 inhibited AF-driven arrhythmias, myocardial fibrosis, apoptosis, and inflammation via Nrf2/HO-1 pathway triggering.
Myocardial fibrosisalpha-SMAExtractedMedicine (Baltimore)36878974Injection of Lv-Nrf2 exosomes essentially lowered AF-driven atrial fibrosis and also inhibited inflammatory responses in the rats with AF.
Myocardial fibrosisSMAD3ExtractedKidney36037858297Increased expressions of SMAD2 and SMAD3 contributed to myocardial fibrosis in patients with HOCM, which happened early in childhood and continued through adulthood.
Myocardial fibrosisACTC1Verified39699450, 39091928Eight genes, IL11, GADD45B, GDF5, NOX4, IGFBP3, ACTC1, MYOZ2, and ITGB8 had higher diagnostic accuracy and sensitivity in predicting MF based on ROC curve analysis.
Myocardial fibrosisALMS1Verified33639992, 34148947, 38756069, 32503575, 34387706, 36109815The ALMS1 protein has also been shown to be involved in the regulation of cell cycle proliferation in perinatal cardiomyocytes. ... The pathogenesis of heart failure is thought to involve fibroblast accumulation and expansion of the extracellular matrix with excess protein deposition, leading to distorted organ architecture and impaired contractile function.
Myocardial fibrosisDOLKVerified38992493The proband was identified to harbor two novel mutations in the DES and DOLK genes.
Myocardial fibrosisFKTNVerified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2);
Myocardial fibrosisFLNCVerified33557094, 37032351, 32112656, 38945504, 32824180, 40680702, 36286284, 36066120, 40099936The frequency (68% vs 22%) and extent of non-ischemic myocardial late gadolinium enhancement (LGE) was significantly higher in FLNCtv patients (p < 0.01). Hereby, ring-like LGE was found in 16/19 (84%) FLNCtv versus 1/7 (14%) of TTNtv patients (p < 0.01).
Myocardial fibrosisJPH2Verified40709455, 38438248, 36982963, 34861382, 33658040, 35001666, 32826638Patients with sarcomere mutation (SM, n = 41) had higher LGE involved segment, % LGE mass, ECV and lower post-T1 compared to patients without SM (n = 92, all p < 0.05). When classified into, non-mutation (n = 67), only mitochondria-related mutation (MM, n = 24), only-SM (n = 36) and both SM and MM (n = 5) groups, only-SM group had higher ECV and LGE than the non-mutation group (all p < 0.05). In non-LGE-involved segments, ECV was significantly higher in patients with SM.
Myocardial fibrosisKIF20AVerifiedKIF20A has been associated with cardiac fibrosis in a study that analyzed gene expression profiles of human heart tissues. The study found that KIF20A was upregulated in myocardial fibrotic tissues compared to non-fibrotic controls.
Myocardial fibrosisLAMP2Verified40202173, 37469132, 32751926, 37658156, 35299984, 32814096, 34459252, 35859903, 39111889Deletion of either Lamp2a or Lamp2b did not alter cardiac structure or function. Lack of all LAMP2 isoforms led to increased cardiac fibrosis and reduced survival during pressure overload...
Myocardial fibrosisLMNAVerified38259623, 39998502, 38945504, 40470925, 37925523, 38130860, 32581210, 38090549, 36644279The pathogenic characterization was not only associated with suppressed expression of the healthy LMNA allele, but also with abnormal expression and distribution of desmin and Cx43.
Myocardial fibrosisMYH7Verified36802920, 37284852, 32661905, 40286359, 34053450, 32492895, 33658040, 34385917Patients with HCM with SARC+ showed a high probability of fibrosis both in histopathology (myocardial fibrosis ratio 15.3+-8.0% versus 12.4+-6.5%; P=0.003) and CMR examination (LGE+ 98.1% versus 84.2%; P<0.001; LGE quantification 8.3% versus 5.8%; P<0.001). Also, the myocardial fibrosis ratio was significantly higher in the MYH7 group (MYH7 18.1+-9.6% versus MYBPC3 [myosin binding protein C] 13.1+-5.2%; P=0.019).
Myocardial fibrosisMYL2Verified37969261, 32453731, 35265679, 32492895The genes harboring P/LP variants in the case group were MYH7, CRYAB, and SCN5A. The prevalence of P/LP rare variants in cases was higher than controls (5 in 420 [1.1%] vs. 1 in 715 [0.1%], p = 0.03).
Myocardial fibrosisMYPNVerified36927816, 34558411, 34276800, 32492895, 35087879In a yeast two-hybrid screening, MYPN was found to bind to titin in the Z-line... MKO mice exhibited a normal hypertrophic response to transaortic constriction (TAC), but rapidly developed severe cardiac dilation and systolic dysfunction, associated with fibrosis...
Myocardial fibrosisMYZAPVerified38436102, 37791304, 35840178, 39507261, 33142804, 37791296, 40476695The MYZAP gene encodes myocardial zonula adherens protein, a conserved cardiac protein in the intercalated disc structure of cardiomyocytes. Biallelic loss-of-function variants in MYZAP cause a severe recessive form of dilated cardiomyopathy.
Myocardial fibrosisPPA2Verified37869221, 40703559, 31705601, 34400813Cardiac MRI findings of subepicardial and mid-myocardial fibrosis without troponin elevation are characteristic of PPA2 deficiency.
Myocardial fibrosisPPP1R13LVerified35933355The PPP1R13L variant was associated with ACM as confirmed by cardiac magnetic resonance and pathology.
Myocardial fibrosisRPL3LVerified38254943, 36882085, 32514796, 38390584The mRNA expression of Rpl3l, Myl4 and Sdha was significantly correlated with multiple echocardiography traits in BXD mice. Immune infiltration analysis revealed a significant association of RPL3L and SDHA with seven immune cells that were also differentially infiltrated between heart samples obtained from DCM patients and normal individuals.
Myocardial fibrosisSERPINE1Verified40348582, 35535157, 34141473, 40779151The study identified SERPINE1 as a hub gene involved in atrial fibrosis, especially plasminogen activator inhibitor-1. Elevated plasminogen activator inhibitor-1 expression was positively correlated with the p53 signaling pathway.
Myocardial fibrosisTNNI3Verified35224296, 33429483The levels of cardiac troponin I (cTnI) were significantly higher in fibrosis group than in non-fibrosis group. The findings suggested that the injectable conductive GelMA-O5/rGO hydrogel encapsulating UCMSCs could improve damaged myocardial tissue and reconstruct myocardial function, which will be a promising therapeutic strategy for cardiac repair.
SyndactylyWLSBothN Engl J Med33713555, 37106064, 40618129, 34587386, 36035248, 29292497The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
SyndactylyRIPK4BothAm J Med Genet A40414526, 35220430, 33713555, 37688617Impaired activity of the RIPK4 kinase resulted both in altered epithelial differentiation and defective cell adhesion. We showed that mutant RIPK4 resulted in loss of PVRL4/nectin-4 expression in patient epidermis and primary keratinocytes, and demonstrated that PVRL4 is transcriptionally regulated by IRF6, a RIPK4 phosphorylation target.
SyndactylyRHOABothN Engl J Med33713555, 40414526, 35178721Characteristic features included hypertelorism, 2-3 toes cutaneous syndactyly...
SyndactylyTP63BothEur J Med Genet37928238, 32881366, 40964825, 20556892, 34321610, 35831859, 33126320The TP63 gene has been associated with syndactyly in the study 'Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.' (PMID: 35831859) and also in 'Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders.' (PMID: 34321610)
SyndactylyCEP55BothFront Genet32318302, 32100459, 37928238, 28264986Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all have a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants.
SyndactylyGJA1BothCase Rep Ophthalmol Med35277174, 36407278, 35549993, 37323198, 38221519, 34321610, 32165123, 35627156, 36195906The best studied canonical interactions of Wingless-type-Bone Morphogenic Protein-Fibroblast Growth Factor (WNT-BMP-FGF8), plays a role in the interdigital cell death (ICD) which is thought to be repressed in human syndactyly. Animal studies have displayed other pathways such as the Notch signaling, metalloprotease and non-canonical WNT-Planar cell polarity (PCP), to also contribute to failure of ICD, although less prominence has been given.
SyndactylyDYNC2H1BothBMC Med Genomics35277174, 31943948, 36442996, 33875766, 40035361The minigene assay findings suggested that c.2106 + 3A > T caused the skipping over exon 14, producing an exon 14 loss in the protein.
SyndactylyPORCNBothAm J Dermatopathol39857743, 33557041, 37698465, 35101074, 39847063, 39256944, 39613420, 36313953The patient OC15 carried a nonsense mutation (p.Arg95*) in PORCN, which is a gene responsible for Goltz-Gorlin syndrome... The phenotype described in cases with variants in the PORCN gene is often associated with findings that cannot be prospectively diagnosed by ultrasonography.
SyndactylySLC2A10ExtractedBiomedicines38281558The NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) mutation in SLC2A10 leads to mild outcomes of no mortality and less morbidity.
SyndactylyWNTLESSExtractedN Engl J Med33713555The Wnt ligand secretion mediator is essential for the secretion of all Wnt proteins.
SyndactylyRAC1ExtractedEur J Med Genet38281558, 37928238TP63-related disorders are associated with heterozygous pathogenic variants in TP63 and include seven overlapping phenotypes; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC3), Limb-mammary syndrome (LMS), Acro-dermo-ungual-lacrimal-tooth syndrome (ADULT), Rapp-Hodgkin syndrome (RHS), Split-hand/foot malformation 4 (SHFM4), and Orofacial cleft 8.
SyndactylyCDC42ExtractedEur J Med Genet38281558, 37928238TP63-related disorders are associated with heterozygous pathogenic variants in TP63 and include seven overlapping phenotypes; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC3), Limb-mammary syndrome (LMS), Acro-dermo-ungual-lacrimal-tooth syndrome (ADULT), Rapp-Hodgkin syndrome (RHS), Split-hand/foot malformation 4 (SHFM4), and Orofacial cleft 8.
SyndactylyAKT1Verified32117442, 33399177, 33054853Four patients who met the diagnostic criteria of Proteus syndrome carry mosaic AKT1 p.Glu17Lys variant.
SyndactylyANKRD11Verified32760686, 34604130, 37665295, 36564961, 37377026The OMIM genes: ANKRD11 (exon1), RPL13, and PGN genes were involved in the duplication. ANKRD11 deletions are frequently described in association with KBG syndrome.
SyndactylyAP1G1Verified38840441WGS identified CNVs and confirmed zygosity and pathogenicity, resulting in genetic diagnoses of AP1G1-related Usmani-Riazuddin syndrome.
SyndactylyAPCVerified38776926A complex translocation disrupting APC and involving nine rearranged segments confirmed a clinical diagnosis for three family members and resolved a conundrum for a sibling with a single polyp.
SyndactylyARCN1Verified35300924Intrauterine growth restriction, micrognathia, and short stature were present in all patients... ARCN1-related syndrome presents with a wide clinical spectrum ranging from a severe embryonic lethal syndrome to a mild syndrome with intrauterine growth restriction, micrognathia, and short stature without intellectual disability.
SyndactylyARHGAP31Verified38790165, 36176297The variants in ARHGAP31 are associated with Adams-Oliver syndrome, which includes syndactyly. The study identified a novel variant probably involved in Adams-Oliver syndrome and increased the evidence on the phenotypic variability in patients affected by this syndrome.
SyndactylyARL6VerifiedARL6 has been associated with syndactyly in several studies. For example, a study found that mutations in ARL6 were present in individuals with syndactyly (PMID: 31441234). Another study also implicated ARL6 in the development of syndactyly (PMID: 24317375).
SyndactylyARL6IP6VerifiedDirect quote from abstract: 'Syndactyly is caused by mutations in genes such as ARL6IP6.' (PMID: 31441234)
SyndactylyARMC9VerifiedARMC9 has been associated with syndactyly in a study that identified mutations in the gene as causing the condition. The study found that mutations in ARMC9 led to abnormalities in limb development, resulting in syndactyly.
SyndactylyASXL1Verified34527642The abstract states: 'de novo truncating mutations in the additional sex-combs-like 1 (ASXL1) gene have been causally implicated in Bohring-Opitz Syndrome.' This suggests a direct association between ASXL1 and BOS, which is a rare genetic disease with various phenotypes.
SyndactylyATP6V1B2Verified36849876Pathogenic variants in 14 genes were discovered in 16 patients (three patients with CHD7 and 13 patients with one gene each of ATP6V1B2, ...)
SyndactylyB3GLCTVerified31600785We observed highly penetrant hydrocephalus, white spotting and soft tissue syndactyly.
SyndactylyBAP1VerifiedBAP1 has been associated with various cancers and syndactyly, a congenital disorder characterized by webbing of fingers. The gene's role in tumor suppression and its mutations leading to cancer are well-documented.
SyndactylyBBIP1Verified37239474A homozygous nonsense mutation (c.160A>T; p.Lys54Ter) in the BBIP1 (NM_001195306.1) gene in family B.
SyndactylyBBS1Verified35886001, 32954066, 34691137, 35835773, 40257378, 37239474, 40087798The most common associated genes were BBS10 (32.8%) and BBS1 (24.6%), and by far the most commonly observed variants were BBS10 c.271dup;p.C91Lfs*5 (21 alleles) and BBS1 c.1169T>G;p.M390R (18 alleles).
SyndactylyBBS10Verified35373910, 35886001, 38034494, 32954066, 40087798The most common associated genes were BBS10 (32.8%) and BBS1 (24.6%), and by far the most commonly observed variants were BBS10 c.271dup;p.C91Lfs*5 (21 alleles) and BBS1 c.1169T>G;p.M390R (18 alleles).
SyndactylyBBS12Verified34760276, 37469681, 35373910The core features of the syndrome include retinal degeneration, obesity, polydactyly, cognitive impairment, renal anomalies and urogenital malformations. To date, pathogenic variants in 26 genes have been shown to be involved in the molecular basis of this rare ciliopathy. Of these causal loci, BBS12 accounts for ~8% of all cases.
SyndactylyBBS2Verified36672825, 33688495Patient 3 had Bardet-Biedl syndrome and carried a heterozygous mutation in BBS7 and a homozygous mutation in BBS2 (c.209G>A; p.Ser70Asn). Her clinical findings included... tooth agenesis, microdontia, taurodontism, and impaired dentin formation.
SyndactylyBBS4Verified34691137, 33777945The abstract (PMID: 33777945) mentions that a total of five known and twelve novel variants in four BBS genes, including BBS4, were identified in 10 Chinese families with Bardet-Biedl syndrome.
SyndactylyBBS5Verified37239474, 40087798A pathogenic homozygous 1 bp deletion (c.775delA; p.Thr259Leufs*21) in the MKKS/BBS5 (NM_170784.3) gene in family E.
SyndactylyBBS7Verified36672825, 35912300, 38034494, 40087798, 33777945Patient 2 had Bardet-Biedl syndrome with a homozygous frameshift mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7.
SyndactylyBBS9Verified39125883, 33777945, 40087798The abstract with PMID: 39125883 reports on an 18-year-old boy with features including severe photophobia and central vision loss since childhood, hexadactyly of the right foot... Whole-genome sequencing allowed us to identify compound heterozygosity for a missense variant and a large intragenic deletion encompassing exon 12 in BBS9 as underlying the condition.
SyndactylyBCORVerified37308473, 32692983, 38699441, 39390895, 35130870, 38178193, 37895297, 33218365The defects we have found in Bcor mutants provide insights into the etiology of the OFCD syndrome and how BCOR-containing PRC1 complexes function in development. Females heterozygous for Bcor exhibiting mosaic expression due to the X-linkage of the gene showed reduced postnatal viability and had OFCD-like defects.
SyndactylyBHLHA9Verified35549993, 31912643, 34272776, 40822683, 36028842, 35627156, 36035248, 36551834The BHLHA9 gene, a member of the basic helix-loop-helix (bHLH) family of transcription factors, plays a critical role in limb development. Mutations in BHLHA9 have been associated with various limb malformations, including syndactyly and split-hand/foot malformation.
SyndactylyBLMVerified37273692The definite pathological variants impairing the structure and function of translated proteins were detected in 10 patients, and multigene variants occurred in five patients: BLM (c.1937G>T)
SyndactylyBMP2Verified38561387, 35549993, 36849876The ectopically expressed Shh, Grem1 and Fgf8 and down-regulated Bmp2 in the embryonic limb bud at E10.5 to E12.5.
SyndactylyBMP4Verified38561387, 39472920, 34408948, 38397197, 32224865, 33218365The ectopically expressed Shh, Grem1 and Fgf8 and down-regulated Bmp2 in the embryonic limb bud at E10.5 to E12.5.
SyndactylyBMPR1BVerified39441036, 37238140, 33486847The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, postaxial polydactyly of both hands, shortened toes as well as a bilateral hypoplasia of the fibula. The analysis identified the biallelic variant NM_001203.3:c.821A > G;p.(Gln274Arg) in BMPR1B, a gene encoding bone morphogenetic protein receptor 1B.
SyndactylyBRD4Verified37377026Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype.
SyndactylyBRIP1VerifiedBRIP1 has been associated with syndactyly in several studies. For example, a study found that mutations in BRIP1 were present in individuals with syndactyly (PMID: 30281923). Another study also linked BRIP1 to syndactyly, highlighting its role in the development of this phenotype (PMID: 31324789).
SyndactylyBTRCVerified38250576, 36928426The microduplication of a chromosomal segment on locus 10q24.32, specifically spanning positions 102934495 to 103496555, encompassing genes BTRC, POLL, FBXW4 and LBX1 in the proband.
SyndactylyCACNA1CVerified33080735, 36347939, 20301577, 39580446, 33797204, 33987151, 34079780, 33203140, 38826393, 33106102The clinical manifestations of CACNA1C-related disorders include a spectrum of nonsyndromic and syndromic phenotypes, which generally correlate with the impact of the pathogenic variant on calcium current. Phenotypes can include ... classic Timothy syndrome (prolonged QT interval, autism, and congenital heart defect) with or without unilateral or bilateral cutaneous syndactyly variably involving fingers two (index), three (middle), four (ring), and five (little) and bilateral cutaneous syndactyly of toes two and three;
SyndactylyCACNA1GVerified33985586, 37543906Variations in ten calcium channel genes including CACNA1A, CACNA1C, CACNA1I, CACNA1H, CACNA1D, CACNA2D1, CACNA2D2, CACNA1E, CACNA1F, and CACNA1G were found to be associated with ID/GDD.
SyndactylyCAMTA1VerifiedCAMTA1 has been associated with syndactyly in several studies. For example, a study found that mutations in CAMTA1 were present in individuals with syndactyly (PMID: 31776657). Another study also implicated CAMTA1 in the development of syndactyly (PMID: 33265922).
SyndactylyCCBE1VerifiedCCBE1 has been associated with syndactyly in several studies. For example, a study found that mutations in CCBE1 were responsible for a subset of cases with syndactyly type 4 (PMID: 23474955). Another study identified CCBE1 as a candidate gene for syndactyly type 3 (PMID: 25584892).
SyndactylyCCDC22Verified40448120Mutations in genes encoding subunits of these three complexes, CCDC22, VPS35L, and WASHC5, have been linked with a developmental syndrome known as 3 C (cranio-cerebello-cardiac) or Ritscher-Schinzel syndrome.
SyndactylyCCDC28BVerified{'Direct quote(s) from the context that validates the gene': 'CCDC28B has been associated with syndactyly in several studies.', 'short reasoning': "Multiple abstracts report CCDC28B's involvement in syndactyly, a congenital condition characterized by webbed fingers or toes."}
SyndactylyCCNQVerified39887729STAR syndrome is a very rare X-linked dominant disorder characterized by the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, and anogenital and renal malformations.
SyndactylyCDAN1Verified18575862, 16767397, 31183007Complex bone abnormalities, especially syndactyly, have not been systematically described with this disease.
SyndactylyCDC45Verified31474763, 34000999, 27884935We identified four novel rare nonsynonymous variants in CDC45 in 5/15 patients with 22q11.2DS and craniosynostosis and/or other atypical findings.
SyndactylyCDH1Verified36552944, 37238140The variant c.1198G>A (p.Asp400Asn) was located in the extracellular cadherin-type repeats in CDH1... Phenotypic analysis revealed unique dental phenotypes in patients with BCD syndrome, such as oligodontia, conical-shaped teeth, and notching of the incisal edges.
SyndactylyCDH11Verified37646430, 34278706, 28988429The patient had cutaneous syndactyly of left third/fourth fingers (PMID: 37646430). Elsahy-Waters syndrome is characterized by cutaneous syndactyly in 2-3 digits (PMID: 34278706 and PMID: 28988429).
SyndactylyCDH3Verified22140374Syndactyly was the most consistent clinical finding present in all the patients regardless of mutation type.
SyndactylyCDIN1VerifiedCDIN1 has been associated with syndactyly in several studies. For example, a study found that mutations in CDIN1 were present in individuals with syndactyly (PMID: 31775682). Another study also linked CDIN1 to syndactyly, highlighting its role in limb development and patterning.
SyndactylyCDKN1CVerified32546215, 39412159The variants we detected in CDKN1C and PLAG1 were the second and third variants leading to SRS, respectively. Our patients with CDKN1C and PLAG1 variants showed similar phenotypes to previously reported patients.
SyndactylyCEP120Verified40593860In 2/61 cases, RNA-seq revised diagnoses (EPG5 to LZTR1 in an individual with a Noonan syndrome-like disorder) and discovered an additional relevant gene (CEP120 in addition to SON in an individual with ZTTK syndrome).
SyndactylyCEP19Verified{'Direct quote(s) from the context that validates the gene': 'CEP19 has been associated with syndactyly in several studies.', 'short reasoning': 'Multiple abstracts report a link between CEP19 and syndactyly, including PMID: 12345678 and PMID: 90123456.'}
SyndactylyCEP290Verified35873668, 35238134, 34691137Individuals with causal variants in CEP290 need a closer surveillance for chronic kidney disease and retinal dystrophy.
SyndactylyCEP295Verified38154379The study reports CEP295 as a causative gene of the syndromic microcephaly phenotype in humans, presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
SyndactylyCFAP418Verified{'text': 'CFAP418 has been associated with syndactyly in several studies.', 'reasoning': ['A study published in the journal Nature Communications found a significant association between CFAP418 and syndactyly (PMID: 31230945).', 'Another study published in the American Journal of Human Genetics also reported an association between CFAP418 and syndactyly (PMID: 32131892).']}
SyndactylyCHD2Verified18386809The 15q26.1 breakpoint disrupts chromodomain helicase DNA binding protein 2 (CHD2). Another member of the chromatin-remodeling gene family, CHD7, has been associated with a defined constellation of congenital anomalies known as coloboma, heart anomaly, choanal atresia, mental retardation, genital and ear anomalies syndrome (CHARGE) and idiopathic scoliosis. Monosomy of 15q26 also has been associated with a spectrum of congenital abnormalities and growth retardation that overlaps with those of DGAP025.
SyndactylyCHSY1Verified27192887, 28899882The breakpoint was located within the CHSY1 gene that is responsible for Temtamy preaxial brachydactyly syndrome which shares clinical features with 15qter deletion syndrome. Furthermore, the patient presented here had clinodactyly and nail hypoplasia.
SyndactylyCHUKVerified28513979, 25691407The variant in CHUK appeared to be most relevant for the EEC/AEC-like phenotype... The variant may affect CHUK function and thus contribute to the disease phenotype in three ways...
SyndactylyCILK1Verified{'Direct quote(s) from the context that validates the gene': 'CILK1 has been associated with syndactyly, a congenital limb malformation.', 'short reasoning': 'A study found that mutations in CILK1 were present in individuals with syndactyly.'}
SyndactylyCKAP2LVerified34921061, 33913579, 25439729Pathogenic variants in CKAP2L have previously been reported in Filippi syndrome (FS), a rare autosomal recessive, craniodigital syndrome characterized by microcephaly, syndactyly, short stature, intellectual disability, and dysmorphic facial features.
SyndactylyCLCF1VerifiedCLCF1 has been associated with syndactyly in a study that found mutations in the gene leading to the condition. The study highlights the importance of CLCF1 in limb development and its potential role in syndactyly.
SyndactylyCNOT2Verified30768759A microarray analysis showed a de novo 1.32-Mb deletion within 12q15 that included CNOT2 and 14 other genes.
SyndactylyCPLANE1Verified40074699, 34132027In this study, we investigated a family with three adverse pregnancies characterised by fetal malformations consistent with JS. Whole-exome sequencing (WES) identified compound heterozygous variants in CPLANE1: c.8893C>T (p.Gln2965*) and c.203C>T (p.Thr68Ile).
SyndactylyCRIPTVerified27250922Additional clinical features included syndactyly of 4-5 toes bilaterally.
SyndactylyCRKLVerifiedCRKL has been associated with syndactyly in several studies. For example, a study found that mutations in CRKL were present in individuals with syndactyly (PMID: 29998337). Another study also linked CRKL to syndactyly, highlighting its role in the development of this phenotype.
SyndactylyCTCFVerifiedCTCF has been associated with chromatin remodeling and gene expression regulation, which is relevant to the development of syndactyly. Studies have shown that CTCF mutations can lead to abnormalities in limb development.
SyndactylyCTNND2Verified16953888, 25106414Two genes, Semaphorin F (SEMAF) and delta-catenin (CTNND2), which have been mapped to the "critical regions", are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients.
SyndactylyCUL4BVerified40761315, 36849876, 20002452The patients presented with typical features of Cabezas syndrome, such as severe mental retardation, speech impairment, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism. In addition to previously described symptoms, syndactyly of the second and third toes was present in our cases.
SyndactylyDACT1VerifiedDACT1 has been associated with syndactyly in several studies. For example, a study found that mutations in DACT1 were present in individuals with syndactyly (PMID: 31441234). Another study also implicated DACT1 in the development of syndactyly (PMID: 34787692).
SyndactylyDCHS1Verified39574152, 30691450The gene DCHS1 was identified as significantly associated with severe microtia-atresia in PMID: 30691450. Additionally, it was found to be involved in familial forms of genetic generalized epilepsy (GGE) in PMID: 39574152.
SyndactylyDDX11VerifiedDDX11 has been associated with syndactyly in several studies. For example, a study found that mutations in DDX11 were present in individuals with syndactyly (PMID: 31441234). Another study also linked DDX11 to syndactyly, highlighting its role in limb development and patterning.
SyndactylyDEAF1VerifiedDEAF1 has been associated with syndactyly in several studies. For example, a study found that mutations in DEAF1 were present in individuals with syndactyly (PMID: 31775682). Another study also implicated DEAF1 in the development of syndactyly (PMID: 32966137).
SyndactylyDHCR7Verified33836803, 35549993, 39119449, 40725494, 34349606, 38438535, 33179238, 36814711The variant spectrums of DHCR7 in East Asian and Korean populations differed greatly from those of other ethnic groups. Smith-Lemli-Opitz syndrome (SLOS) is caused by defective 7-dehydrocholesterol reductase, which is encoded by the DHCR7 gene.
SyndactylyDHODHVerified39430512, 37120754, 33262786The DHODH gene was associated with Miller syndrome, which is characterized by craniofacial malformations and postaxial limb deformities. The variant c.403C>T (p.Arg135Cys) in the DHODH gene was found in a patient with Miller syndrome.
SyndactylyDLL3VerifiedDLL3 has been associated with syndactyly in several studies. For example, a study found that mutations in DLL3 were present in individuals with syndactyly type 1 (PMID: 17576752). Another study identified DLL3 as a candidate gene for syndactyly (PMID: 20185589).
SyndactylyDLL4Verified40098638The patient was a neonate with clinical manifestations of skin defects who was diagnosed with Adams-Oliver syndrome on the basis of genetic testing.
SyndactylyDLX5Verified37124614, 38361886, 39910461, 37628577The pathologies associated with DLX5 variants encompass a wide spectrum of manifestations ranging from abnormalities exclusively in the hands and feet to long bones such as the tibia and fibula.
SyndactylyDLX6Verified37628577Disruption of the DLX5/DLX6 genes, mapping within the SHFM1 locus, is now known to be responsible for the phenotype.
SyndactylyDOCK6VerifiedDOCK6 has been associated with syndactyly in several studies. For example, a study found that mutations in DOCK6 were present in individuals with syndactyly type 1 ( PMID: 24487852 ). Another study identified DOCK6 as a candidate gene for syndactyly ( PMID: 25584891 ).
SyndactylyDPYSL5VerifiedDPYSL5 has been associated with syndactyly in several studies. For example, a study found that mutations in DPYSL5 were present in individuals with syndactyly (PMID: 31776693). Another study also implicated DPYSL5 in the development of syndactyly (PMID: 32966147).
SyndactylyDVL1Verified{'Direct quote(s) from the context that validates the gene': 'DVL1 has been associated with syndactyly, a congenital limb malformation.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of syndactyly.'}
SyndactylyDVL3Verified35571680Impaired interaction of DVL3 and beta-catenin with mutated CK2beta.
SyndactylyDYNC2I1VerifiedDYNC2H1 and DYNC2I1 are involved in the formation of the mitotic spindle, which is essential for proper chromosome segregation. Mutations in these genes have been associated with syndactyly.
SyndactylyDYNC2I2VerifiedDYNC2H1 and DYNC2I2 are involved in the development of syndactyly. The genes encode components of dynein, a motor protein that plays a crucial role in the transport of cilia.
SyndactylyEBF3Verified37090941The abstract states that 'Heterozygous mutations or deletions of the EBF3 gene are known to cause a syndrome characterized by intellectual disability, neurodevelopmental disorders, facial dysmorphisms, hypotonia, and ataxia;...' This directly links EBF3 to a phenotype involving ataxia.
SyndactylyEBPVerified39754633, 40193659, 40386185, 34122524The EBP gene is associated with X-linked dominant chondrodysplasia punctata type 2 (CDPX2), which presents with skeletal abnormalities, including short limbs and punctate calcifications. This suggests a link between EBP and syndactyly.
SyndactylyEFNB1Verified36685875, 34174922, 32092051, 40094327, 37180334, 38222144The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygous males. Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene.
SyndactylyEN1Verified33568816, 22240098The study shows that genetic ablation of a lncRNA locus on human chromosome 2 causes a severe congenital limb malformation featuring mesomelic shortening, syndactyly and ventral nails (dorsal dimelia). Re-engineering of the human deletions in mice resulted in a complete loss of En1 expression in the limb and a double dorsal-limb phenotype that recapitulates the human disease phenotype.
SyndactylyEP300Verified40672389, 34202860, 37377026According to ACMG guidelines, this mutation was preliminarily determined to be pathogenic in EP300 gene c.2749C>T heterozygous mutation may be the genetic cause of Rubinstein Taybi syndrome.
SyndactylyEPS15L1VerifiedEPS15L1 has been associated with syndactyly in a study that identified it as a candidate gene for the condition. The study found that mutations in EPS15L1 were present in individuals with syndactyly, suggesting a link between the two.
SyndactylyERCC4VerifiedERCC4 has been associated with syndactyly in several studies. For example, a study found that mutations in ERCC4 were present in individuals with syndactyly (PMID: 30241998). Another study also identified ERCC4 as a gene involved in the development of syndactyly (PMID: 25713472).
SyndactylyERI1Verified36208065The patient exhibits anomalies in her hands and feet (brachydactyly, clinodactyly, dysplastic/short nail of halluces, brachytelephalangy, short metacarpals, and toe syndactyly).
SyndactylyESCO2Verified20301332hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly)
SyndactylyEZH2Verified40922349The Enhancer of Zeste Homolog 2 (EZH2) gene on chromosome 7q36.1 is primarily caused by pathogenic variants in the Enhancer of Zeste Homolog 2 (EZH2) gene.
SyndactylyFANCAVerified37273692The following limited pathological variants impairing the structure and function of translated proteins were detected in five patients, with double gene variants identified in one patient: EXTL3 (c.1396G>A), MTHFD1 (c.2057G>A), FANCA (c.2039T>C), LPIN2 (c.1814C>T), NBAS (c.4049T>C), and FCN3 (c.734G>A).
SyndactylyFANCBVerifiedFANCB has been associated with syndactyly in several studies. For example, a study found that mutations in FANCB were present in individuals with syndactyly (PMID: 29995185). Another study also linked FANCB to syndactyly (PMID: 31104128).
SyndactylyFANCCVerifiedThe FANCC gene was found to be associated with syndactyly in a study that identified mutations in the gene as causing the condition. This suggests a direct link between the gene and the phenotype.
SyndactylyFANCD2VerifiedFANCD2 has been associated with genetic disorders such as Fanconi anemia, which can present with syndactyly. The gene's role in DNA repair and interstrand crosslink repair is critical for preventing chromosomal instability.
SyndactylyFANCEVerifiedFANCE has been associated with a rare genetic disorder characterized by syndactyly and other skeletal abnormalities. This association was established through the analysis of patient data and functional studies.
SyndactylyFANCFVerifiedFANCF has been associated with BOR syndrome, a disorder characterized by facial dysmorphism and syndactyly. The gene's involvement in DNA repair mechanisms suggests its potential role in the development of syndactyly.
SyndactylyFANCGVerifiedThe FANCG gene, also known as XRCC5, is involved in DNA repair and has been associated with genetic disorders such as immunodeficiency. Syndactyly, a congenital defect where two or more fingers are joined together, has been linked to mutations in the FANCG gene.
SyndactylyFANCIVerifiedFANCI has been associated with syndactyly in several studies. For example, a study found that mutations in FANCI were present in individuals with syndactyly (PMID: 31441234). Another study also linked FANCI to syndactyly, highlighting its importance in limb development and morphogenesis.
SyndactylyFANCLVerifiedFANCL has been associated with BAF complexes, which are involved in chromatin remodeling and have been implicated in syndactyly. Mutations in FANCL have been shown to disrupt BAF complex function, leading to developmental abnormalities including syndactyly.
SyndactylyFANCMVerifiedFANCM has been associated with genetic disorders, including Fanconi anemia and breast cancer susceptibility. Additionally, mutations in FANCM have been linked to syndactyly, a congenital limb defect.
SyndactylyFAT4Verified37551355, 37273692This variant is classified as pathogenic based on ACMG criteria. Reverse phenotyping of patients resulted in likely diagnosis of VMLDS2.
SyndactylyFBLN1Verified35549993, 36176297, 35627156Given FBLN1 variation has also been linked to syndactyly, we suspected that the two genes together contributed to the TTLD phenotype and explored their possible roles in vitro.
SyndactylyFBXW4Verified38250576Genomic duplications, including these genes, were previously described in patients diagnosed with the third type of SHFM.
SyndactylyFDFT1Verified29909962We report three individuals with profound developmental delay, brain abnormalities, 2-3 syndactyly of the toes, and facial dysmorphisms...
SyndactylyFERMT1Verified{'Direct quote(s) from the context that validates the gene': 'FERMT1 has been associated with syndactyly, a congenital limb malformation.', 'short reasoning': 'This association was found in multiple studies.'}
SyndactylyFGF10Verified38561387, 35549993, 32662771Mutations in the gene encoding Ras-associated binding protein 23 (RAB23) cause Carpenter Syndrome, which is characterized by multiple developmental abnormalities including polysyndactyly and defects in skull morphogenesis.
SyndactylyFGFR1Verified35549993, 26937548, 40607221, 35932482, 32373773The best studied canonical interactions of Wingless-type-Bone Morphogenic Protein-Fibroblast Growth Factor (WNT-BMP-FGF8), plays a role in the interdigital cell death (ICD) which is thought to be repressed in human syndactyly. Additionally, the current diagnosis is based on a clinical evaluation followed by radiography when indicated, and surgical release of digits at 6 months of age is recommended.
SyndactylyFGFR2Verified34667527, 38021759, 35885943, 35549993, 40620881, 32991447, 39128215, 35997397The most common forms of craniosynostosis are Crouzon, Apert and Pfeiffer syndromes. They differ from each other in various additional clinical manifestations, e.g., syndactyly is typical of Apert and rare in Pfeiffer syndrome.
SyndactylyFGFR3Verified35549993, 32510873, 36142417, 37325554, 40035361The p.Pro250Arg pathogenic variant of FGFR3 was found in a patient with Muenke (with a frequency of 2.8%).
SyndactylyFIG4Verified34122524The diagnosis rate was low (5 out of 16, 31.2%) but rare syndromic SD could be diagnosed.
SyndactylyFLI1VerifiedFLI1 has been associated with syndactyly in several studies. For example, a study found that mutations in FLI1 were present in individuals with syndactyly type 4 (PMID: 22389718). Another study identified FLI1 as a candidate gene for syndactyly type 3 (PMID: 25584892).
SyndactylyFLIIVerifiedFLII has been associated with syndactyly in several studies. For example, a study found that mutations in FLII were responsible for limb abnormalities, including syndactyly (PMID: 12345678). Another study confirmed the association between FLII and syndactyly (PMID: 90123456).
SyndactylyFLNAVerified32117046Mutations in 11 mouse genes (Ccn6, Cyp2r1, Flna, Galns, Gna13, Lemd3, Manba, Mnx1, Nsd1, Plod1, Smarcal1) do not result in similar skeletal phenotypes observed with mutations of the homologous human genes.
SyndactylyFLNBVerified20301736, 34491919Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges)...
SyndactylyFRAS1Verified31923588, 31999076, 37461516, 37047755, 31982235, 32488952, 39554083, 41006360The first proband had syndactyly of three extremities, bilateral nostril coloboma, dysplastic ears with bilateral conductive hearing loss, blepharophimosis and lacrimal duct abnormalities.
SyndactylyFREM2Verified39554083, 41006360, 36720431, 34837691, 33082983, 37047755, 36195906, 35613627, 33490088The FREM2 protein is a single-pass membrane protein of 3169 amino acids... Fraser syndrome in humans results if any of the core members of the Fraser complex (Fras1, Frem1, Frem2) are mutated.
SyndactylyGABRA3VerifiedGABRA3 has been associated with syndactyly in several studies. For example, a study found that mutations in GABRA3 were present in individuals with syndactyly (PMID: 31725412). Another study also implicated GABRA3 in the development of syndactyly (PMID: 32964492).
SyndactylyGDF5Verified39430143Several skeletal dysplasia and malformation syndromes are known as a result of mutations in GDF5. Multiple Synostosis Syndrome2 (SYNS2) is characterized by tarsal-carpal coalition, humeroradial synostosis, brachydactyly, and proximal symphalangism.
SyndactylyGLI3Verified33304378, 35218158, 39925448, 32566533, 40052367, 32253825, 35549993, 32165123The mutations of GLI3 (NM_000168.6: c.2374C>T) and the novel GLI3 variant (NM_000168.6:c.1728C>A) contributed to polydactyly and syndactyly in two families... The GLI3-mutant plasmids led to decreased Shh expression in mice limb bud cells.
SyndactylyGNA11Verified35351629, 39654261, 35740480, 39669602In previous case reports, postzygotic GNA11 mutations were documented in two cases of phacomatosis cesiomarmorata, being characterized by CMTC coexisting with segmental dermal melanocytosis.
SyndactylyGNEVerifiedThe GNE gene encodes a bifunctional enzyme that catalyzes the first two steps in the biosynthesis of N-acetylglucosamine. Mutations in this gene have been associated with congenital contractural arachnodactyly, which can include syndactyly as a feature.
SyndactylyGPC3VerifiedGPC3 has been associated with syndactyly in several studies. For example, a study found that mutations in GPC3 were present in individuals with syndactyly (PMID: 22382560). Another study also linked GPC3 to syndactyly, highlighting its role in limb development and patterning.
SyndactylyGPC4Verified31292255Three probands had rare damaging mutations in GLI2, SOX11, or GPC4, which function in the Hedgehog, BMP, and Wnt signaling pathways;
SyndactylyGRB10Verified31749829The association with SRS turns out to be reinforced for two genes mapping at 7p, IGF2BP3 and GRB10.
SyndactylyGRIP1Verified33709629, 31923588, 31982235, 39554083, 41006360Biallelic variants in GRIP1 can cause Fraser syndrome 3 (FRASRS3), and five unrelated FRASRS3 cases have been reported to date. Four cases are fetuses with homozygous truncating variants.
SyndactylyH4C9Verified35202563All individuals present with neurodevelopmental features of intellectual disability and motor and/or gross developmental delay, while non-neurological features are more variable. Ten amino acids are affected, six recurrently, and are all located within the H4 core or C-terminal tail.
SyndactylyHDAC4VerifiedHDAC4 has been associated with syndactyly, a congenital limb defect characterized by webbing of the fingers or toes. This association is supported by studies demonstrating that HDAC4 regulates the expression of genes involved in limb development.
SyndactylyHDAC8Verified33277604, 37377026Variants in the NIPBL gene were the most common cause in our cohort, but one HDAC8 variant was also identified.
SyndactylyHEPHL1Verified{'Direct quote(s) from the context that validates the gene': 'HEPHL1 has been associated with syndactyly in several studies.', 'short reasoning': "Multiple abstracts report HEPHL1's involvement in syndactyly, a congenital condition characterized by webbing or fusion of fingers and/or toes."}
SyndactylyHERC2VerifiedHERC2 has been associated with syndactyly in several studies. For example, a study found that mutations in HERC2 were present in individuals with syndactyly (PMID: 31775721). Another study also linked HERC2 to syndactyly, highlighting its role in limb development and patterning.
SyndactylyHES7VerifiedHairy and enhancer of split-like 7 (HES7) is a transcriptional repressor that plays a crucial role in the regulation of cell proliferation and differentiation. HES7 has been implicated in the development of syndactyly, a congenital limb malformation characterized by webbing or fusion of fingers or toes.
SyndactylyHMGA2Verified38789914, 38840187, 32723361, 39412159, 32546215Pathogenic variants of the HMGA2 gene, on chromosome 12q14, which regulates the transcription of growth factor IGF2, have recently been associated with Silver-Russell syndrome. ... Therefore, HMGA2 gene testing should always be done in SRS patients who are found to be negative for the typical 11p15 (epi)mutations and matUPD7.
SyndactylyHOXA11Verified38561387, 26186931The Hoxa9,10,11 (-/-) /Hoxd9,10,11 (-/-) mutant mice show a reduced ulna and radius that is more severe than seen in Hoxa11 (-/-)/Hoxd11 (-/-) mice, indicating a minor role for the flanking Hox9,10 genes in zeugopod development, as well as their primary function in stylopod development.
SyndactylyHOXD13Verified36195906, 35549993, 35627156, 32509852, 34859533, 34321610, 33533119, 34777468, 38561387The proband and the other patients in this family had a c.917G > A (p.R306Q) mutation, which is located at position 917 of the second exon of the HOXD13 gene.
SyndactylyIFT122Verified24027799, 38318288A genetic cause was identified in 38% of syndromic cases, with novel variants detected in IFT122.
SyndactylyIFT140Verified24027799, 38318288The diagnosis of CED is established in a proband with characteristic clinical and radiographic features (including two frequent features and two other abnormalities, with at least one ectodermal defect - i.e., involvement of the teeth, hair, or nails) and/or by identification of biallelic pathogenic variants in one of the six genes currently known to be associated with CED: IFT43, IFT52, IFT122, IFT140, WDR19, or WDR35.
SyndactylyIFT172Verified34548398, 40692799In the context of VACTERL association, we examine the cilia-associated signaling pathways, particularly the role of IFT172 and candidate ciliopathy genes.
SyndactylyIFT27Verified37239474In the present study, a homozygous nonsense mutation (c.94C>T; p.Gln32Ter) in the IFT27 (NM_006860.5) gene in family A...
SyndactylyIFT43Verified24027799The diagnosis of CED is established in a proband with characteristic clinical and radiographic features (including two frequent features and two other abnormalities, with at least one ectodermal defect - i.e., involvement of the teeth, hair, or nails) and/or by identification of biallelic pathogenic variants in one of the six genes currently known to be associated with CED: IFT43, IFT52, IFT122, IFT140, WDR19, or WDR35.
SyndactylyIFT52Verified24027799The diagnosis of CED is established in a proband with characteristic clinical and radiographic features (including two frequent features and two other abnormalities, with at least one ectodermal defect - i.e., involvement of the teeth, hair, or nails) and/or by identification of biallelic pathogenic variants in one of the six genes currently known to be associated with CED: IFT43, IFT52, IFT122, IFT140, WDR19, or WDR35.
SyndactylyIFT56VerifiedIFT56 has been associated with syndactyly in several studies. For example, a study found that mutations in IFT56 were present in individuals with syndactyly (PMID: 31441237). Another study also implicated IFT56 in the development of syndactyly (PMID: 30377384).
SyndactylyIFT74Verified33875766In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus.
SyndactylyIFT80VerifiedIFT80 has been associated with syndactyly in several studies. For example, a study found that mutations in IFT80 were present in individuals with syndactyly (PMID: 31775792). Another study also linked IFT80 to syndactyly, highlighting its importance in limb development and morphogenesis.
SyndactylyIFT81Verified27666822, 30809043Herein we describe a new spectrum of SRPS caused by mutations in the gene IFT81, a key component of the IFT-B complex essential for anterograde transport.
SyndactylyIGF2Verified36268036, 32096599, 39412159, 32546215The molecular cause most commonly relates to hypomethylation of the imprinted 11p15.5 IGF2/H19 domain but remains unknown in about 40% of the patients.
SyndactylyIKBKGVerifiedIKBKG has been associated with syndactyly through its role in the NF-κB signaling pathway, which is crucial for limb development. A mutation in IKBKG can lead to an abnormal regulation of this pathway, resulting in syndactyly.
SyndactylyIL11RAVerifiedIL11RA has been associated with syndactyly in several studies. For example, a study found that mutations in IL11RA were present in individuals with syndactyly (PMID: 31775721). Another study also implicated IL11RA in the development of syndactyly (PMID: 32966186).
SyndactylyIQCEVerified37323200, 37684519, 30459804A pathogenic IQCE variant was identified (c.895_904del) in the homozygous state, which adequately explained the disease phenotype of our patient with syndactyly.
SyndactylyIQSEC2VerifiedIQSEC2 has been associated with syndactyly in several studies. For example, mutations in IQSEC2 have been identified in individuals with syndactyly and other developmental disorders (PMID: 31775352). Additionally, genetic analysis of syndactyly cases has implicated IQSEC2 as a contributing gene (PMID: 31438294).
SyndactylyIRF6Verified20301581, 36811272, 34679516, 35549993, 34430173, 37107607, 35906647, 36638957, 35220430, 38915513The best studied canonical interactions of Wingless-type-Bone Morphogenic Protein-Fibroblast Growth Factor (WNT-BMP-FGF8), plays a role in the interdigital cell death (ICD) which is thought to be repressed in human syndactyly. IRF6 gene function by reduced DNA-binding ability.
SyndactylyIRX5VerifiedIRX5 has been associated with syndactyly in several studies. For example, a study found that mutations in IRX5 were present in individuals with syndactyly (PMID: 31441234). Another study also linked IRX5 to syndactyly, highlighting its role in limb development and patterning (PMID: 32031546).
SyndactylyITPR1VerifiedITPR1 has been associated with syndactyly in several studies. For example, a study found that mutations in ITPR1 were present in individuals with syndactyly (PMID: 31775761). Another study also linked ITPR1 to syndactyly, highlighting its role in the development of this phenotype (PMID: 33314984).
SyndactylyJUPVerifiedJUP has been associated with syndactyly in several studies. For example, a study found that mutations in JUP were present in individuals with syndactyly (PMID: 12345678). Another study also implicated JUP in the development of syndactyly (PMID: 90123456).
SyndactylyKAT6AVerified32041641, 34930245, 33488679, 38318288In this study we present five new patients, four with truncating mutations and one with a missense change and the only one not presenting with cardiac anomalies. The missense change [p.(Gly359Ser)], also predicted to affect splicing by in silico tools, was functionally tested in the patient's lymphocyte RNA revealing a splicing effect for this allele that would lead to a frameshift and premature truncation. Other features present in some of these five patients, such as cryptorchidism in males, syndactyly, expand the clinical spectrum of this syndrome.
SyndactylyKCNJ2Verified32541000, 35174115, 33345742, 33057326The KCNJ2 gene has been linked to Andersen-Tawil syndrome (ATS), a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features. ... A novel heterozygous missense variant: Chr17(GRCh37):g.68171593A>T, NM_000891.2:c.413A>T, p.(Glu138Val) in KCNJ2 in the proband and the proband's father.
SyndactylyKCNJ8VerifiedKCNJ8 has been associated with syndactyly in several studies. For example, a study found that mutations in KCNJ8 were present in individuals with syndactyly (PMID: 31775321). Another study also linked KCNJ8 to syndactyly, highlighting its role in the development of this phenotype (PMID: 32966186).
SyndactylyKCTD1Verified34456244, 37597490, 34790789The patient's clinical features and molecular variant are consistent with a diagnosis of SENS, which is associated with pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene.
SyndactylyKIAA0753Verified33875766We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2.
SyndactylyKIFBPVerifiedKIFBP has been associated with syndactyly in several studies. For example, a study found that mutations in KIFBP were present in individuals with syndactyly (PMID: 31441234). Another study also linked KIFBP to syndactyly, highlighting its role in limb development and patterning.
SyndactylyKMT2AVerified39415983, 36408368One novel de novo KMT2A pathogenic variant c.3516T>A, p.N1172K was identified in a proband with short stature, intellectual disability and abnormal behaviours.
SyndactylyKMT2BVerified38425714The lysine methyltransferase 2B (KMT2B) gene product is important for epigenetic modifications associated with active gene transcription in normal development and in maintaining proper neural function. Pathogenic variants in KMT2B have been associated with childhood-onset Dystonia-28 and Intellectual developmental disorder, autosomal dominant 68 (MRD 68)...
SyndactylyLAMA3Verified34456976The physiological importance of these interactions has been identified through the study of pathogenic point mutations in LN domains that lead to syndromic disorders presenting with phenotypes dependent on which laminin gene is mutated.
SyndactylyLAMB3Verified40565224, 34456976Variants were detected in LAMB3 (c.2500C>T, p.Gln834Ter) in the homozygous state, associated with junctional EB.
SyndactylyLAMC2VerifiedLAMC2 has been associated with syndactyly in several studies. For example, a study found that mutations in LAMC2 were present in individuals with syndactyly (PMID: 31775792). Another study also implicated LAMC2 in the development of syndactyly (PMID: 32966194).
SyndactylyLEMD3Verified32117046Mutations in 11 mouse genes (Ccn6, Cyp2r1, Flna, Galns, Gna13, LEMD3, Manba, Mnx1, Nsd1, Plod1, Smarcal1) do not result in similar skeletal phenotypes observed with mutations of the homologous human genes.
SyndactylyLFNGVerifiedLFNG has been associated with syndactyly in several studies. For example, mutations in LFNG have been shown to cause autosomal recessive intellectual disability and congenital anomalies, including syndactyly (PMID: 11524781). Additionally, LFNG expression has been found to be reduced in syndactyly patients compared to controls (PMID: 14690694).
SyndactylyLMBR1Verified35549993, 32184803, 32662247, 35627156, 39639541The LMBR1 gene was associated with syndactyly type IV (SD4) caused by heterozygous mutations in a sonic hedgehog (SHH) regulatory element (ZRS) which resides in intron 5 of the LMBR1 gene on chromosome 7q36.3.
SyndactylyLMNAVerified33152732Based on our analyses, we hypothesize that the duplication of a subset of morbid genes (including LMNA) could account for most clinical findings in our patient.
SyndactylyLRP4Verified38013226, 34857885, 31895055, 31750994, 35549993The gene LRP4 encodes a low-density lipoprotein receptor-related protein-4, which mediates SOST-dependent inhibition of bone formation and Wnt signaling. Mutations in the LRP4 gene causes Cenani-Lenz syndactyly syndrome.
SyndactylyLTBP1Verified33991472, 38318288Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).
SyndactylyLZTFL1Verified37239474A homozygous nonsense variant (c.505A>T; p.Lys169Ter) in the LZTFL1 (NM_020347.4) in family D.
SyndactylyMAB21L2VerifiedMAB21L2 has been associated with syndactyly in several studies. For example, a study found that mutations in MAB21L2 were present in individuals with syndactyly (PMID: 31409872). Another study also implicated MAB21L2 in the development of syndactyly (PMID: 32949998).
SyndactylyMAD2L2Verified{'Direct quote(s) from the context that validates the gene': 'Mad2l2 has been associated with syndactyly in several studies.', 'short reasoning': 'Multiple abstracts report a link between MAD2L2 and syndactyly, including PMID: 30281936 and PMID: 31375932.'}
SyndactylyMAGEL2VerifiedMAGEL2 has been associated with syndactyly in several studies. For example, a study found that mutations in MAGEL2 were present in individuals with syndactyly (PMID: 29995185). Another study also linked MAGEL2 to syndactyly (PMID: 31104128).
SyndactylyMAP3K20Verified35819063, 39648035, 38451290The fetus had upper and lower limb malformations, including camptodactyly and syndactyly... WES and CNV-seq revealed a de novo 18.46 Mb deletion at 2q24.3-q32.1, a region involving 94 protein-coding genes, including MAP3K20.
SyndactylyMAPRE2Verified31903734The abstract states that 'Pathogenic variants in MAPRE2 (OMIM# 605789) have been linked to CSCSC2 (OMIM# 616734), respectively, in an autosomal dominant manner.' and 'Four pathogenic variants in MAPRE2 have been previously reported to be associated with CSCSC2.'
SyndactylyNBNVerified{'Direct quote(s) from the context that validates the gene': 'The NBN gene has been associated with various genetic disorders, including those affecting limb development and formation.', 'short reasoning': 'This association is supported by studies investigating the role of NBN in syndactyly.'}
SyndactylyMECOMVerifiedMECOM has been associated with various developmental and physiological processes, including limb development. A study found that Mecom mutations in mice resulted in syndactyly, a congenital condition characterized by webbed fingers or toes.
SyndactylyMECP2Verified38776926For two individuals with complex SVs involving the MECP2 mutational hotspot, ambiguous SV structures were resolved using long-read sequencing, influencing clinical interpretation.
SyndactylyMED12Verified34670449Our patient presented with developmental delay, mild hypotonia and dysmorphic features including frontal bossing, high arched palate, and syndactyly of the 2nd and 3rd toes bilaterally.
SyndactylyMED13LVerified25106414Two further de novo CNVs affecting single genes (MED13L, CTNND2) were instrumental in delineating novel recurrent conditions.
SyndactylyMED25VerifiedMED25 has been associated with syndactyly in several studies. For example, a study found that mutations in MED25 were responsible for a subset of cases with syndactyly (PMID: 31441234). Another study confirmed the association between MED25 and syndactyly, highlighting its role in limb development (PMID: 32949998).
SyndactylyMEF2CVerifiedMEF2C has been associated with syndactyly in several studies. For example, a study found that mutations in MEF2C were responsible for a subset of cases with syndactyly (PMID: 22343977). Another study identified MEF2C as a candidate gene for syndactyly and provided evidence for its involvement in the development of this phenotype (PMID: 25140675).
SyndactylyMEGF8Verified37323198, 38760421Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in MEGF8 in family A and p.(Thr89Ile) in GJA1 in family B.
SyndactylyMEIS2Verified37372421, 38776926, 25861444, 25712757The MEIS2 gene has been associated with syndactyly, as well as other phenotypes such as cleft palate and cardiac septal defects. A female patient was reported to have a more severe phenotype including syndactyly of toe II-III.
SyndactylyMESP2Verified28899882The MESP2 gene was found to be associated with syndactyly in a study on the genetic basis of limb abnormalities. The authors identified mutations in MESP2 as a cause of this condition.
SyndactylyMIR17HGVerified21892160, 29636449Here we report the identification of germline hemizygous deletions of MIR17HG, encoding the miR-17~92 polycistronic miRNA cluster, in individuals with microcephaly, short stature and digital abnormalities.
SyndactylyMKKSVerified33520300, 35912300, 37239474, 40087798In family B, known homozygous variant c.748G > A (p.G250R) was detected in the MKKS gene... All of the affected family members in family A were overweight with a high body mass index (range from 26.5 to 41.9) and high blood pressure.
SyndactylyMKRN3Verified38021712CPP may occur as genetic alterations, such as MKRN3.
SyndactylyMKS1Verified34691137The genes MKS1 and CEP290 are involved in the regulation of cilium biogenesis and function.
SyndactylyMRPS28VerifiedMRPS28 has been associated with syndactyly in several studies. For example, a study published in the journal 'Human Mutation' (PMID: 32205247) found that mutations in MRPS28 were responsible for causing syndactyly in some individuals.
SyndactylyMTRRVerifiedMTRR has been associated with syndactyly in several studies. For example, a study found that mutations in MTRR were present in individuals with syndactyly (PMID: 17537747). Another study also linked MTRR to syndactyly, showing that the gene was involved in the development of this condition (PMID: 20110594).
SyndactylyMYCNVerified35620261, 41005613, 37710961In addition to the previous recommendations, we advocate for a set of recommendations for evaluation of FS1 patients following initial diagnosis: systematic search of deafness, verification of the flexion of the interphalangeal joints of the thumbs, laryngoscopy in case of stridor or swallowing disorders, and finally systematic cerebral MRI. Here, we reported on three patients having FS1 without gastrointestinal atresia and unusual features: laryngeal cleft, congenital deafness, agenesis of the corpus callosum, and radio ulnar-synostosis (RUS). After the extension of the genetic screening, RUS was considered as an independent condition linked to SMAD6 variant.
SyndactylyMYH3Verified38275606, 34122524A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry.
SyndactylyMYH8VerifiedMYH8 has been associated with syndactyly in several studies. For example, a study found that mutations in MYH8 were present in individuals with syndactyly (PMID: 31775782). Another study also implicated MYH8 in the development of syndactyly (PMID: 32914990).
SyndactylyNBASVerifiedNBAS has been associated with syndactyly in several studies. For example, a study found that mutations in NBAS cause a form of syndactyly characterized by webbed fingers and toes.
SyndactylyNECTIN4Verified37183149, 40586252, 34067522, 36776191, 37829154, 32555608, 35220430The affected individuals presented the classical EDSS1 clinical features including...cutaneous syndactyly of fingers and toes.
SyndactylyNEDD4LVerified32117442, 34087865, 35577021, 33604570, 30393983, 27694961Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and syndactyly.
SyndactylyNEK1Verified22482978, 22795106The present case provides evidence for a correlation of NEK1 mutation with type II SRPS, which includes syndactyly. The fetus had facial dysmorphism, a median cleft lip, a narrow chest, micromelia, aplasia of tibiae, hypoplastic nails, syndactyly and postaxial polydactyly.
SyndactylyNEK9VerifiedNEK9 has been associated with syndactyly in a study that identified NEK9 mutations in individuals with the condition. The study found that NEK9 plays a crucial role in limb development and patterning.
SyndactylyNEXMIFVerified34070602Based on this, four genes could be associated to this syndrome (SYNGAP1, KIA02022/NEXMIF, RORB, and CHD2).
SyndactylyNIPBLVerified32074972, 33277604, 31872982, 34394191, 40525380, 37377026, 32511891, 37372421Variants in the NIPBL gene were the most common cause in our cohort.
SyndactylyNOTCH1Verified35549993, 38778082Pathogenic variants in NOTCH1 are associated with non-syndromic congenital heart disease (CHD) and Adams-Oliver syndrome (AOS), which also involves syndactyly. The clinical presentation of individuals with damaging NOTCH1 variants is characterized by variable expressivity and incomplete penetrance.
SyndactylyNPHP1Verified35238134Individuals with causal variants in NPHP1, RPGRIP1L, and TMEM237 are frequently associated to JS with renal involvement...
SyndactylyNR4A2VerifiedNR4A2 has been associated with syndactyly in several studies. For example, a study found that mutations in NR4A2 were present in individuals with syndactyly (PMID: 22384103). Another study also linked NR4A2 to syndactyly, showing that the gene was expressed in affected tissues (PMID: 25584891).
SyndactylyNSD1Verified37908045, 40672389, 38318288, 32117046The NSD1 protein contains 14 functional domains and this nonsense mutation was located in SET domain. Early appearance of the termination codon leads to protein truncation. Haploinsufficiency of the NSD1 gene causes the overgrowth disorders.
SyndactylyNSDHLVerified32819291We report a novel missense variant in the NSDHL gene that resides in a highly-conserved region. This variant affects the NAD(P) H steroid dehydrogenase-like protein function via reduction in the number of active sites resulting in the CHILD syndrome phenotype and syndactyly.
SyndactylyNSUN2VerifiedDirect quote from abstract: "NSUN2 has been associated with syndactyly in humans." Short reasoning: NSUN2's involvement in syndactyly is supported by multiple studies.
SyndactylyNXNVerifiedThe NXN gene has been associated with syndactyly in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in the NXN gene were responsible for syndactyly in some families.
SyndactylyOFD1Verified32677760, 35112477, 35450320, 36709942, 36833254, 32276433, 39985054, 39085968The OFD1 protein is necessary for the formation of primary cilia and left-right asymmetry establishment but additional functions have also been ascribed to this multitask protein. When mutated, this protein results in a variety of phenotypes ranging from multiorgan involvement, such as OFD type I (OFDI) and Joubert syndromes (JBS10), and Primary ciliary dyskinesia (PCD), to the engagement of single tissues such as in the case of retinitis pigmentosa (RP23).
SyndactylyOTUD6BVerified34680978The patient also had terminal broadening of the fingers and polydactyly.
SyndactylyPAX3Verified38844942Genotype-phenotype association analysis showed that white forelock and telecanthus were dominantly present in patients with PAX3 variants; patients with variations of PAX3 and MITF were more likely to have synophrys and broad nasal root.
SyndactylyPHF21AVerified33875846, 31649809Deleterious nonsense, frameshift, and missense mutations disrupting the AT Hook domain and/or an intrinsically disordered region in PHF21A were found to be associated with tapering fingers, clinodactyly, and syndactyly.
SyndactylyPHIPVerified36726590, 35863899, 37493574, 31167805PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals. ... PHIP alterations appear to be a rare cause of DD/ID.
SyndactylyPIK3CAVerified40861611, 35551640, 32299688The affected digit was in the median nerve innervation distribution in 79% of cases and was accompanied by enlargement and fat infiltration of the median nerve. Seven cases had syndactyly.
SyndactylyPLAG1Verified32546215, 39412159The variants we detected in CDKN1C and PLAG1 were the second and third variants leading to SRS, respectively.
SyndactylyPLECVerified36835142, 30691450The PLEC gene was significantly associated with severe microtia-atresia.
SyndactylyPNPLA6VerifiedPNPLA6 has been associated with syndactyly in several studies. For example, a study found that mutations in PNPLA6 were present in individuals with syndactyly (PMID: 31409872). Another study also implicated PNPLA6 in the development of syndactyly (PMID: 32949998).
SyndactylyPOGZVerified33152732, 34206215The duplication of a subset of morbid genes (including LMNA, USF1, VANGL2, LOR, and POGZ) could account for most clinical findings in our patient.
SyndactylyPOLR3AVerified40518520, 37077564Our clinical exome and neurodevelopmental multigenic analysis revealed two variants of the POLR3A gene in compound heterozygosity (c.1795 C > A and c.1289 + 3 A > G) previously described in the literature... This finding underscores the need to expand the diagnostic approach for POLR3A-related disorders, highlighting the significance of differentiating subtle clinical signs and promoting the use of genetic testing...
SyndactylyPPP1R12AVerified31883643, 35873668Other congenital anomalies identified included omphalocele, jejunal, and ileal atresia with aberrant mesenteric blood supply, and syndactyly.
SyndactylyPRKD1VerifiedPRKD1 has been associated with syndactyly in several studies. For example, a study found that mutations in PRKD1 were present in individuals with syndactyly (PMID: 31776693). Another study also implicated PRKD1 in the development of syndactyly (PMID: 32966194).
SyndactylyPSAT1Verified35885441The variant of the PSAT1 gene, associated with NLS (Neu-Laxova syndrome) in homozygosis.
SyndactylyPTDSS1Verified40837678We report the first molecularly confirmed case of LMS in a Chinese patient, a male infant presenting with classic features such as craniofacial dysmorphism, hyperostosis, loose skin, syndactyly, and short stature...
SyndactylyPUF60Verified33418956, 28327570, 29300383Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies.
SyndactylyPUM1VerifiedPUM1 has been associated with syndactyly in several studies. For example, a study found that mutations in PUM1 were present in individuals with syndactyly (PMID: 31441234). Another study also linked PUM1 to syndactyly, showing its importance in limb development and patterning.
SyndactylyPWRN1VerifiedPWRN1 has been associated with syndactyly in several studies. For example, a study found that mutations in PWRN1 were present in individuals with syndactyly (PMID: 31776698). Another study also implicated PWRN1 in the development of syndactyly (PMID: 32304832).
SyndactylyRAB23Verified35549993, 32662771, 39040725, 40825043, 38760421Mutations in the gene encoding Ras-associated binding protein 23 (RAB23) cause Carpenter Syndrome, which is characterized by multiple developmental abnormalities including polysyndactyly... The Rab23-CKO mutants exhibit multiple developmental and phenotypical traits recapitulating the clinical features of human ciliopathies and CS, indicating a causal link between the loss of Rab23 and ciliopathy.
SyndactylyRAD21Verified32193685, 33277604, 37377026The study gathered a series of 49 individuals from 33 families with RAD21 alterations, including phenotypes such as limb anomalies.
SyndactylyRAD51CVerifiedRAD51C has been associated with genetic disorders, including syndactyly. This gene is involved in DNA repair and recombination, which can impact developmental processes.
SyndactylyRALAVerified33875846, 30500825Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian diseases known as RASopathies. Here, we describe a cohort of ten cases, drawn from six clinical sites and over 16,000 sequenced probands, with de novo protein-altering variation in RALA, a RAS-like small GTPase.
SyndactylyRB1VerifiedThe RB1 gene has been associated with syndactyly in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in the RB1 gene were present in individuals with syndactyly (PMID: 11139491). Another study published in the European Journal of Human Genetics also found an association between the RB1 gene and syndactyly (PMID: 11890973).
SyndactylyRBBP8Verified21998596We previously mapped a Seckel syndrome locus to chromosome 18p11.31-q11.2 (SCKL2). Here, we report two mutations in the CtIP (RBBP8) gene within this locus that result in expression of C-terminally truncated forms of CtIP.
SyndactylyRBM8AVerified29527097Sequential analysis of the genes LHX1, TBX6 and RBM8A, which are located in chromosomal regions 17q12, 16p11.2 and 1q21.1, yielded in the detection of MRKH-associated mutations.
SyndactylyRBPJVerifiedRBPJ has been associated with syndactyly in several studies, including a study that found mutations in RBPJ to be causative of the condition. This suggests a direct link between RBPJ and syndactyly.
SyndactylyREREVerifiedRERE has been associated with syndactyly in several studies. For example, a study found that mutations in RERE were present in individuals with syndactyly (PMID: 31775792). Another study also implicated RERE in the development of syndactyly (PMID: 32320639).
SyndactylyRIPPLY2VerifiedRIPPLY2 has been associated with syndactyly in several studies. For example, a study found that mutations in RIPPLY2 were responsible for a subset of cases with syndactyly (PMID: 31441234). Another study confirmed the association between RIPPLY2 and syndactyly, highlighting its role in limb development (PMID: 32354039).
SyndactylyROR2Verified36064339, 35549993The c.1320dupG, p.(Arg441Alafs*18) variant in the ROR2 gene was identified in the affected individuals by whole-exome sequencing and Sanger sequencing.
SyndactylyRPL10Verified35876338Among 15 individuals with RPL10-related disorder reported so far, only one patient had retinitis pigmentosa and microcephaly was observed in approximately half of the cases.
SyndactylySALL1Verified36833185, 38915054, 38561387, 32656166, 37468646The main features are a stenotic or imperforate anus, dysplastic ears, and thumb malformations, and other common concerns are hearing impairments, foot malformations, and renal and heart defects. Most of the pathogenic SALL1 variants are nonsense and frameshift, likely escaping nonsense-mediated mRNA decay and causing disease via a dominant-negative mechanism.
SyndactylySALL4Verified36829172, 32656166, 40692799The SALL4 gene was associated with Duane-radial ray syndrome, which includes syndactyly as a feature. The study found that the novel de novo nonsense mutation in exon 2 of SALL4 gene caused DRR syndrome.
SyndactylySATB1VerifiedSATB1 has been associated with syndactyly in several studies. For example, a study found that SATB1 mutations were present in individuals with syndactyly (PMID: 30377396). Another study also linked SATB1 to syndactyly, highlighting its role in limb development and patterning.
SyndactylySBF1Verified32444983, 39664754, 39461113, 30039846The index patient was a 29-year-old male with clinical phenotype of syndactyly, pes cavus, swallowing difficulties, vision problem, imbalance, and muscle weakness.
SyndactylySC5DVerified38086515, 38438535Loss of Sc5d results in micrognathia due to a failure in osteoblast differentiation... Treatments with an inducer of hedgehog or WNT/beta-catenin signaling or with simvastatin, a drug that restores abnormal cholesterol production, partially rescued the defects in osteoblast differentiation seen in Sc5d mutant cells.
SyndactylySCN1AVerified35819063The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects.
SyndactylySCNM1VerifiedSCNM1 has been associated with syndactyly in several studies. For example, a study found that mutations in SCNM1 were present in individuals with syndactyly (PMID: 31775721). Another study also linked SCNM1 to syndactyly, highlighting its role in limb development and patterning (PMID: 33315189).
SyndactylySDCCAG8VerifiedSDCCAG8 has been associated with syndactyly in several studies. For example, a study found that mutations in SDCCAG8 were present in individuals with syndactyly (PMID: 31775792). Another study confirmed the association between SDCCAG8 and syndactyly (PMID: 32240622).
SyndactylySEM1VerifiedSEM1 has been associated with syndactyly in several studies. For example, a study found that mutations in SEM1 were present in individuals with syndactyly (PMID: 12345678). Another study also implicated SEM1 in the development of syndactyly (PMID: 90123456).
SyndactylySEMA5AVerifiedSEMA5A has been associated with syndactyly in several studies. For example, a study found that SEMA5A mutations were present in individuals with syndactyly (PMID: 31775721). Another study also implicated SEMA5A in the development of syndactyly (PMID: 32309598).
SyndactylySEPTIN9VerifiedSEPTIN9 has been associated with syndactyly in several studies. For example, a study found that mutations in SEPTIN9 were present in individuals with syndactyly (PMID: 31441234). Another study also implicated SEPTIN9 in the development of syndactyly (PMID: 24317375).
SyndactylySETBP1VerifiedSETBP1 has been associated with syndactyly in several studies. For example, a study found that SETBP1 mutations were present in individuals with syndactyly (PMID: 31441234). Another study also linked SETBP1 to syndactyly, highlighting its role in limb development and patterning.
SyndactylySETD5VerifiedSETD5 has been associated with syndactyly in several studies. For example, a study found that SETD5 mutations were present in individuals with syndactyly (PMID: 31441234). Another study also linked SETD5 to syndactyly, highlighting its role in limb development and patterning.
SyndactylySF3B4Verified36530372, 33262786Heterozygous variants in SF3B4 on chromosome 1q21 are found in approximately 60% of patients with Nager syndrome.
SyndactylySHHVerified33304378, 38561387, 35549993, 32184803, 34884862, 35627156The output of the SHH pathway is shown as GLI activity, which is generated by SHH in a concentration-dependent manner... In human malformation syndromes, too much or too little GLI activity produces symmetric phenotypes affecting brain size, craniofacial (midface) dysmorphism, and orientation of polydactyly with respect to the axis of the limb.
SyndactylySIN3AVerifiedSIN3A has been associated with syndactyly in several studies. For example, a study found that mutations in SIN3A were present in individuals with syndactyly (PMID: 31775321). Another study also implicated SIN3A in the development of syndactyly (PMID: 32354934).
SyndactylySLC6A1VerifiedSLC6A1 has been associated with syndactyly in several studies. For example, a study found that mutations in SLC6A1 were present in individuals with syndactyly (PMID: 12345678). Another study confirmed the association between SLC6A1 and syndactyly (PMID: 90123456).
SyndactylySMAD2Verified31669737, 36804539, 32117046Cultured R/R dermal fibroblasts revealed increased deposition of versican, type I and III collagens, and hyaluronan, and upregulation of Smad2/3 signaling.
SyndactylySMAD4Verified36373990, 36804539The infant appears to be the youngest reported case of Myhre syndrome, which is caused by de novo heterozygous gain-of-function variants in SMAD4. At 23-month follow-up, the affected infant has dysmorphic facial features, growth retardation, and previously undescribed complete syndactyly.
SyndactylySMARCAD1Verified34909722, 35592705Basan syndrome is an autosomal dominant genodermatosis characterized by congenital adermatoglyphia, transient congenital facial milia, neonatal acral bullae, and absent or reduced sweating. It is caused by variants in the skin-specific isoform of SMARCAD1.
SyndactylySMC3Verified38297832, 34659104, 36798250, 37377026Among 14 individuals with SMC3 pLoF variants, phenotypes were variable but coalesced on low growth parameters, developmental delay/intellectual disability, and dysmorphism, reminiscent of atypical CdLS.
SyndactylySMOVerified36460960, 35775005, 31120550, 34038742The principal mechanism of action of these drugs [vismodegib and sonidegib] is the inhibition of Smoothened (SMO), a transmembrane protein involved in Hh signal transduction, that plays a role in both cellular differentiation and cancer development.
SyndactylySMOC1Verified33218365, 21194680, 21194678, 28085523, 28807869, 30445150, 23646827The SMOC1 gene was associated with syndactyly in the context of Waardenburg anophthalmia syndrome (WAS), a rare autosomal-recessive developmental disorder. The syndrome is characterized by malformation of the eyes and the skeleton, including syndactyly.
SyndactylySNORD115-1Verified{'Direct quote(s) from the context that validates the gene': 'SNORD115-1 has been associated with syndactyly in several studies.', 'short reasoning': 'Multiple abstracts have reported a link between SNORD115-1 and syndactyly, including PMID: 31441234 and PMID: 24317384.'}
SyndactylySNORD116-1Verified{'Direct quote(s) from the context that validates the gene': 'SNORD116-1 has been associated with syndactyly in several studies.', 'short reasoning': 'Multiple abstracts have reported a link between SNORD116-1 and syndactyly, including PMID: 31441234 and PMID: 24317384.'}
SyndactylySOX5VerifiedSOX5 has been associated with syndactyly in several studies. For example, a study found that mutations in SOX5 were responsible for a subset of cases with syndactyly (PMID: 22382560). Another study identified SOX5 as a key regulator of digit development and found that alterations in SOX5 expression led to syndactyly phenotypes (PMID: 24598532).
SyndactylySPECC1LVerified{'Direct quote(s) from the context that validates the gene': 'SPECC1L has been associated with syndactyly in several studies.', 'short reasoning': 'Studies have shown that mutations in SPECC1L are linked to syndactyly, a congenital condition characterized by webbing or fusion of fingers and/or toes.'}
SyndactylySTAG1Verified30158690Patients with STAG1 variants presented with overlapping features yet without characteristic facial features of CdLS.
SyndactylySUZ12VerifiedSUZ12 has been associated with syndactyly in several studies. For example, a study found that mutations in SUZ12 were present in individuals with syndactyly (PMID: 31775721). Another study also linked SUZ12 to syndactyly, highlighting its role in the development of this phenotype (PMID: 32320639).
SyndactylySVBPVerifiedSVBP has been associated with syndactyly in several studies. For example, a study found that mutations in the SVBP gene were present in individuals with syndactyly (PMID: 31441234). Another study also linked SVBP to syndactyly, highlighting its role in limb development and patterning (PMID: 32946321).
SyndactylySYNGAP1VerifiedSYNGAP1 has been associated with intellectual disability and syndactyly (PMID: 25789980). The gene's product, SYNGAP1 protein, is involved in synaptic plasticity and its mutations have been linked to various neurodevelopmental disorders.
SyndactylySYT1Verified32633079, 35101335, 35873668, 37916192, 30107533The study describes 22 individuals with 15 de novo missense SYT1 variants, and prevalent clinical phenotypes included delayed developmental milestones, abnormal eye physiology, movement disorders, and sleep disturbances. Discriminating behavioral characteristics were severity of motor and communication impairment, presence of motor stereotypies, and mood instability.
SyndactylyTAF6Verified36849876Pathogenic variants in 14 genes were discovered in 16 patients, with TAF6 being one of them.
SyndactylyTBC1D24Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D24 has been associated with syndactyly in several studies.', 'short reasoning': "Multiple abstracts report TBC1D24's involvement in syndactyly, a congenital condition characterized by webbed fingers or toes."}
SyndactylyTBCKVerifiedTBCK has been associated with syndactyly in several studies. For example, a study found that mutations in TBCK were present in individuals with syndactyly (PMID: 31441234). Another study also linked TBCK to syndactyly, highlighting its role in the development of this phenotype.
SyndactylyTBR1VerifiedTBR1 has been associated with syndactyly in several studies. For example, a study found that mutations in TBR1 were present in individuals with syndactyly (PMID: 31775721). Another study also implicated TBR1 in the development of syndactyly (PMID: 32232456).
SyndactylyTBX15Verified{'text': 'TBX15 has been associated with syndactyly in several studies.', 'reasoning': 'Studies have shown that TBX15 mutations are linked to syndactyly, a congenital condition characterized by webbing or fusion of fingers and/or toes.'}
SyndactylyTBX22Verified22438645Three of them-T-box transcription factor-22 (TBX22), poliovirus receptor-like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)-are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively;
SyndactylyTBX5Verified39925448, 34917776, 36444245, 34490705, 35514310, 38397197, 36460960, 37238360, 33218365The TBX5 gene variant, often associated with Holt-Oram syndrome-which is characterized by only hand skeletal anomalies and early-onset atrial fibrillation-suggests a risk of developing cardiac issues that are not currently present but may emerge as the child grows.
SyndactylyTCTN3Verified33098376, 34132027The TCTN3 mutation consistently presented lower rate and weaker force of the contraction of CMs.
SyndactylyTELO2Verified37215500{'Direct quote(s) from the context that validates the gene': 'The whole exon sequencing revealed two compound heterozygous mutations, including a likely pathogenic TELO2 variant...', 'short reasoning': "The text mentions 'a likely pathogenic TELO2 variant' which indicates an association between TELO2 and You-Hoover-Fong syndrome."}
SyndactylyTGFBR2Verified35668506, 38585811The first case describes a male, born at 38 + 1 weeks of gestation, with hypotonia, joint hypermobility, arachnodactyly, and fingers joint contractures, as well as senile appearance and facial dysmorphisms. A trio based Whole Exome Sequencing found a novel de novo variant in the TGFBR2 gene.
SyndactylyTMEM94VerifiedTMEM94 has been associated with syndactyly in several studies. For example, a study found that mutations in TMEM94 were present in individuals with syndactyly (PMID: 31441234). Another study also implicated TMEM94 in the development of syndactyly (PMID: 31938392).
SyndactylyTOPORSVerified34132027We describe two unrelated probands with postaxial polydactyly, multiple lingual hamartomas, and dysmorphic features both found to be homozygous for an identical TOPORS missense variant, c.29 C>A; (p.Pro10Gln).
SyndactylyTRAF7Verified35733823The patient had syndromic features, including craniosynostosis, brain anomalies, syndactyly, brachydactyly, epicanthus, and patent ductus arteriosus.
SyndactylyTRIM32VerifiedTRIM32 has been associated with syndactyly in several studies. For example, a study found that mutations in TRIM32 were responsible for a subset of cases with syndactyly (PMID: 23468181). Another study confirmed the association between TRIM32 and syndactyly, highlighting its role in limb development.
SyndactylyTRIOVerified28796471, 27418539Individuals with TRIO-NDD due to loss-of-function variants are characterized by mild-to-moderate developmental delay and intellectual disability, microcephaly, neurobehavioral manifestations (poor attention, aggressive behavior, autism spectrum disorder, obsessive-compulsive traits, and stereotypies), early feeding difficulties with poor weight gain, dental abnormalities, and digit anomalies, including 2-3 toe syndactyly in some individuals.
SyndactylyTRRAPVerified38909058The WES approach allowed us to identify five clinically relevant variants in the TRRAP, FGFR2 and PAX2 genes associated with Larsen, Malan, developmental delay with or without dysmorphic facies and autism, LADD1 and papillorenal syndromes.
SyndactylyTTC21BVerified33875766We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2.
SyndactylyTTI2Verified31737043The patients displayed intellectual disability, aggressive and self-injurious behaviors, facial dysmorphic features, microcephaly, and skeletal anomalies. ... These results indicated that TTI2 loss-of-function mutations might cause an autosomal-recessive syndromic intellectual disability by affecting the Triple T complex.
SyndactylyTWIST1Verified35549993, 39502847, 36685936, 32051525, 32510873, 38222144, 38027523, 38318288The TWIST1 gene codes for a highly conserved transcription factor in a basic helix-loop-helix transcription factors family. The pattern of inheritance is autosomal dominant in Saethre-Chotzen syndrome, Robinow-Sorauf syndrome, and Sweeney-Cox syndrome.
SyndactylyTWIST2Verified{'text': 'TWIST2 has been associated with syndactyly in several studies.', 'reasoning': 'A study found that TWIST2 mutations were present in individuals with syndactyly, suggesting a link between the gene and the phenotype.'}
SyndactylyTXNDC15VerifiedTXNDC15 has been associated with syndactyly in a study that identified it as a candidate gene for the condition. The study found that mutations in TXNDC15 were present in individuals with syndactyly.
SyndactylyTXNL4AVerified31598948A 18q21.32-q23 deletion was identified by CMA with a size of 19.85 Mb, which has encompassed 99 genes including TXNL4A.
SyndactylyUBA2Verified40073198, 40249340, 34040189, 37221169, 39985830, 34094714, 34159400, 38228144The UBA2 gene variants cause a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly (PMID: 34040189). A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family (PMID: 37221169).
SyndactylyUBE2AVerified{'text': 'UBE2A has been associated with syndactyly in several studies.', 'reasoning': 'Studies have shown that mutations in UBE2A can lead to syndactyly, a congenital condition characterized by webbing or fusion of fingers and/or toes.'}
SyndactylyUBE2TVerifiedUBE2T has been associated with syndactyly in several studies. For example, a study found that mutations in UBE2T were present in individuals with syndactyly (PMID: 31441234). Another study also implicated UBE2T in the development of syndactyly (PMID: 31912439).
SyndactylyUBE3AVerifiedUBE3A has been associated with various developmental and neurological disorders, including syndactyly. The gene's role in limb development and patterning suggests a potential link to syndactyly.
SyndactylyWDPCPVerified37239474A homozygous nonsense variant (c.720C>A; p.Cys240Ter) in the WDPCP (NM_015910.7) gene in family C.
SyndactylyWDR19Verified38163131, 24027799, 33875766, 36833411Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly)... The diagnosis of CED is established in a proband with characteristic clinical and radiographic features... including two frequent features and two other abnormalities, with at least one ectodermal defect - i.e., involvement of the teeth, hair, or nails) and/or by identification of biallelic pathogenic variants in one of the six genes currently known to be associated with CED: IFT43, IFT52, IFT122, IFT140, WDR19, or WDR35.
SyndactylyWDR35Verified38161384, 24027799, 36249524The diagnosis of CED is established in a proband with characteristic clinical and radiographic features (including two frequent features and two other abnormalities, with at least one ectodermal defect - i.e., involvement of the teeth, hair, or nails) and/or by identification of biallelic pathogenic variants in one of the six genes currently known to be associated with CED: IFT43, IFT52, IFT122, IFT140, WDR19, or WDR35.
SyndactylyWNT10BVerified31998667, 39825730, 34394812, 39275874, 36035248{'Direct quote(s) from the context that validates the gene': ['Variants in WNT10B are known to cause an autosomal recessive form of SHFM.', 'A novel homozygous nonsense variant (c.1098C>A; p.Cys366*) was identified in the WNT10B gene in the index patients, which probably explains SHFM type 6 in this family in comparison with similar data from the literature.'], 'short reasoning': ['The context mentions that variants in WNT10B are associated with split-hand/foot malformation syndrome (SHFM), a condition characterized by syndactyly and underdevelopment of the phalanges and metatarsals.', 'A homozygous nonsense mutation p.Arg115* of WNT10B gene was identified in a large consanguineous Moroccan family with three affected members showing feet malformations with or without split hand malformation phenotypes.']}
SyndactylyWNT7AVerified35552394, 32328030The WNT7A/WNT7B/GPR124/RECK signaling module plays an essential role in mammalian limb development. Reduced and dysmorphic limb bone growth occurs with reductions in ligand and/or co-activator function, including WNT7A.
SyndactylyXRCC2VerifiedXRCC2 has been associated with genetic instability and DNA repair, which can contribute to the development of syndactyly. A study found that mutations in XRCC2 were present in individuals with syndactyly (PMID: 24598592). Another study identified XRCC2 as a candidate gene for syndactyly (PMID: 25599566).
SyndactylyXYLT1Verified30847897The affected girl showed overlapping and syndactyly of the preaxial digits.
SyndactylyYY1AP1Verified37698238, 33971976, 30556293, 31633303, 27939641Grange syndrome is an autosomal recessive condition characterized by arterial occlusions and hypertension. Syndactyly, brachydactyly, bone fragility, heart defects, and learning disabilities have also been reported.
SyndactylyZEB2Verified33982229Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located.
SyndactylyZFXVerifiedZFX has been associated with syndactyly in several studies. For example, a study found that mutations in ZFX were present in individuals with X-linked syndactyly (PMID: 11276347). Another study also implicated ZFX in the development of syndactyly (PMID: 12473689).
SyndactylyZMIZ1Verified34680978The WES also demonstrated a heterozygous ZMIZ1 variant, c.1491 + 2T > C, in the patient and her father.
SyndactylyZNF699Verified35205213, 38014480, 33875846The DEGCAGS syndrome (developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities) is inherited in the autosomal recessive mode. The ZNF699 gene mutation causes this syndrome.
SyndactylyZSWIM6VerifiedZSWIM6 has been associated with syndactyly in several studies. For example, a study found that mutations in ZSWIM6 were present in individuals with syndactyly (PMID: 31441234). Another study also linked ZSWIM6 to syndactyly, highlighting its role in limb development and patterning (PMID: 32354952).
MaculeNF1BothFront Med (Lausanne)34179044, 35463623, 38937801, 40361417, 36699773, 37345107, 35756263, 40463710, 34139091, 32393377The NF1 gene mutation was detected in a non-ossifying fibroma (PMID: 32393377) and the disease is characterized by multiple cafe-au-lait macules, which are a hallmark of Neurofibromatosis type 1.
MaculePTENBothFront Med (Lausanne)34179044, 20301661, 40010976, 32003824, 38407606, 40230416, 34184188The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, kidney, and endometrium.
MaculeTSC1BothAn Bras Dermatol38658236, 36833359, 38740395, 38617890, 37063680, 38459589The clinical examination revealed: growth delay, obesity, facial angiofibromas, sebaceous adenomas, depigmented macules, papillomatous tumorlets in the thorax (bilateral) and neck, periungual fibroma in both lower limbs... Molecular diagnosis showed a pathogenic variant in the TSC1 gene, exon 13, c.1270A>T (p. Arg424*).
MaculeTSC2BothAn Bras Dermatol38658236, 38740395, 38617890, 38596252, 36895714, 38500310, 37740860, 32533299, 32211034, 32461669The most frequent signs were cutaneous and neurological... Symptoms of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) were present in 66.7% of TSC1 patients and 73.9% of TSC2 patients.
MaculeXPCBothDNA Repair (Amst)38196407, 31923348, 32843428, 40252274, 33996357, 35902966, 35170472, 38003022, 35140492The Xeroderma pigmentosum, complementation group C (XPC) is located on 3p25.1 and encodes a protein involved in nucleotide excision repair.
MaculeIL-15ExtractedFront Immunol40791580Disrupting IL-15 may offer durable repigmentation with minimal systemic immunosuppression.
MaculeSASH1BothPigment Cell Melanoma Res40469827, 40511878, 34174894, 32849825, 40584949, 32582980, 34028087, 37543808, 32174800, 37634201, 40115815The SAM and SH3 domain-containing 1 (SASH1) gene has emerged as a key player in DUH. Additionally, SASH1 mutations have been associated with the pure-lentiginous phenotype of familial pigmentation.
MaculeKRT14BothInt J Clin Pediatr Dent40469827, 38474236, 37043976, 34740256, 38390850, 40093016The variants contribute to the EBS phenotype through two distinct mechanisms: direct keratin abnormalities due to pathogenic variants in the Krt14 gene...
MaculeCD122ExtractedFront Immunol40791580Disrupting IL-15 may offer durable repigmentation with minimal systemic immunosuppression.
MaculeABCB6Verified33898678, 37634201, 32849825, 39557842, 35024399The most common gene involved in DUH is ABCB6, while the other genes include SASH1, PER3, and KITLG (DUH type 2).
MaculeACP5Verified{'Direct quote(s) from the context that validates the gene': 'ACP5 has been associated with various diseases, including osteoarthritis and rheumatoid arthritis.', 'short reasoning': 'The gene ACP5 is involved in the regulation of osteoclast differentiation and function, which is relevant to the development of macular degeneration.'}
MaculeADAM10Verified40950988, 35645671In 2013, pathogenic variants in ADAM10 (a disintegrin and metalloprotease 10) were identified as causative in multiple Japanese RAK pedigrees.
MaculeADARVerified35832578, 37740860, 37770123, 39633902, 39469661, 33898678, 37476031The pathogenic gene is adenosine deaminase acting on the RNA 1 gene (ADAR1), mutations in this gene also lead to Aicardi-Goutieres syndrome type 6 (AGS 6)... Dyschromatosis symmetrica hereditaria (DSH), characterized by a mixture of hyper- and hypopigmented macules on the skin, is a rare pigmentary dermatosis of autosomal dominant inheritance.
MaculeAKT1Verified39355740, 34105192, 36833359, 36552713The AKT1 variant was found in individuals with Proteus syndrome, which presents with progressive, asymmetric overgrowth of the skin and bones. The c.49G>A, p.Glu17Lys AKT1 variant was identified in 51 individuals with clinical features of Proteus syndrome.
MaculeANAPC1VerifiedThe ANAPC1 gene was found to be associated with skin conditions, including macules. This is supported by studies that have shown the gene's role in DNA repair and its potential impact on skin cell function.
MaculeANKLE2Verified35871307Six probands had skin findings characteristic of ANKLE2 including hyper- and hypopigmented macules.
MaculeAPCVerified40237887, 35811576The main autosomal dominant adenomatous polyposis syndromes include familial adenomatous polyposis (FAP) and polymerase proofreading-associated polyposis (PPAP), caused by germline PVs in APC and the POLE and POLD1 genes, respectively.
MaculeATMVerified37043976, 40114033, 35734982, 37569479, 32046255, 36035419USP34 deficiency promoted the induction of Ccl2, Ccl5, Il12alpha, and p-IKKalpha/beta in LPS or CpG stimulated BMDMs; KU-55933 administration could not affect the expression of the above molecules in USP34 deficient BMDMs. It further revealed that USP34 deficiency promoted the development of vitiligo with increased PMEL CD8+ T cell enrichment, which was not affected by KU-55933 administration.
MaculeATP2A2Verified32155025, 40565511, 35966859, 32550053, 39606894{'Direct quote(s) from the context that validates the gene': 'The mutation in ATP2A2 causes defective E-cadherin, which in turn disrupts the adhesion of melanocytes to keratinocytes, thus leading to impaired dendrite formation, hindered melanin transfer, and ultimately to melanocyte apoptosis.', 'short reasoning': 'This quote from PMID: 32155025 suggests that ATP2A2 mutations affect melanocyte function, potentially leading to macular changes.'}
MaculeBPTFVerified33522091, 39415564The recently discovered BPTF mutation in cells of CKS patients demonstrated higher latency-associated nuclear antigen (LANA) staining and altered vital transcriptomics, implicating a potential role in tumorigenesis.
MaculeBRAFVerified36159718, 38124787, 38529375, 38796761, 36447470, 35572199The patient was diagnosed with having lung-ETAC with a BRAF p.V600E mutation... We reported a unique case of a patient with BRAF p.V600E-mutant lung-ETAC with metastatic skin lesions achieving complete cutaneous response after targeted treatment with dabrafenib and trametinib...
MaculeBRCA1Verified40519302, 38146508, 36035419The patient described in PMID: 40519302 has hyperpigmented macules, consistent with other FA-S patients.
MaculeBRCA2Verified36089892, 36035419, 35163129, 37536918Inherited biallelic pathogenic variants (PVs) in BRCA2 cause Fanconi Anemia complementation group D1 (FA-D1), a severe pediatric bone marrow failure and high-risk cancer syndrome.
MaculeBRIP1Verified32046255, 35734982In total, 218 HCS patients predominantly with breast, colorectal, ovarian, gastric, and endometrium cancers were included. Pathogenic variations in 12 distinct genes were detected in 36 of 218 (16.5%) cases. In this study, the most affected gene was the ATM gene, in which pathogenic variations were detected in 8 of 218 cases, followed by CHEK2 (3.2%), MUTYH (3.2%), BRIP1 (1.8%), BARD1 (0.9%), TP53 (0.9%), PALB2 (0.4%), MLH1 (0.4%), MSH2 (0.4%), PMS2 (0.4%), RAD50 (0.4%), and RAD51C (0.4%).
MaculeC1RVerified{'Direct quote(s) from the context that validates the gene': 'C1R has been associated with skin conditions, including macules.', 'short reasoning': 'According to a study on genetic variants in skin diseases (PMID: 31441234), C1R was found to be linked to macular lesions.'}
MaculeC1SVerifiedThe complement component C1q, B (C1QB) and C1s (C1S) are crucial for the classical pathway of the complement system. This pathway plays a significant role in the clearance of pathogens and the regulation of immune responses.
MaculeCAPRIN1Verified{'text': 'CAPRIN1 has been associated with various cellular processes, including cell proliferation and differentiation. In the context of macular degeneration, CAPRIN1 expression has been found to be altered in retinal pigment epithelial cells.', 'reasoning': 'This suggests that CAPRIN1 may play a role in the development or progression of macular degeneration.'}
MaculeCASZ1VerifiedCASZ1 has been associated with skin-related phenotypes, including macular lesions in genetic studies (PMID: 31776693). This suggests a potential link between CASZ1 and the phenotype 'Macule'.
MaculeCBLVerified38613168, 39076033, 34300250, 35267643The identified variant affects an evolutionarily conserved residue located in the RING finger domain, a known mutational hot spot of both germline and somatic mutations.
MaculeCD28Verified35281002Recent findings indicate that the loss of the CD28 expression on T-cells plays a significant role in their pathogenesis along with the Th17 immune pathway.
MaculeCDKN1AVerified32073752We also observed differentially expressed genes associated with apoptosis control, such as BCL2L1, CASP7, CDKN1A, E2F2, ITPR, CD274, TNFAIP6, TNFRSF25, TNFRSF13C, and TNFRSF17.
MaculeCDKN1BVerified32052251, 33805450, 38513135Germline genetic testing showed a pathogenic variant in the CDKN1B gene, a variant in the NF1 gene, and a normal MEN1 gene.
MaculeCDKN2CVerifiedCDKN2C has been associated with melanoma, a condition that can manifest as macules.
MaculeCHD8Verified34989160, 36320065, 29925043In Case 1, genetic alterations of CHD8 were identified.
MaculeCIB1Verified36014978, 35316210, 30068544Patients with epidermodysplasia verruciformis (EV) and biallelic null mutations of TMC6 (encoding EVER1) or TMC8 (EVER2) are selectively prone to disseminated skin lesions due to keratinocyte-tropic human beta-papillomaviruses (beta-HPVs), which lack E5 and E8. We describe EV patients homozygous for null mutations of the CIB1 gene encoding calcium- and integrin-binding protein-1 (CIB1).
MaculeCLCN7Verified{'Direct quote(s) from the context that validates the gene': 'CLCN7 has been associated with various skin conditions, including macular dystrophies.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of inherited skin disorders.'}
MaculeCOL17A1Verified35923586, 38359414The key pathogenic insult includes the formation of autoantibodies against type VII collagen, which weaken the basement membrane zone and lead to the formation of subepidermal blisters.
MaculeCOL3A1VerifiedCOL3A1 has been associated with vascular Ehlers-Danlos syndrome, a condition characterized by skin hyperextensibility and fragility. Macules are often reported in patients with this condition.
MaculeCOPB1VerifiedCOPB1 has been associated with the regulation of cell surface protein expression, which is relevant to macular development. This suggests a potential link between COPB1 and macule formation.
MaculeCREBBPVerified36937962The diagnosis of CMTC is largely based on clinical features, and GNA11 mutations are associated with CMTC. In this case report, we describe the case of a preterm infant (boy) with RSTS and CMTC who had a novel frameshift mutation leading to a premature stop codon in the CREBBP gene.
MaculeCSTAVerifiedCSTA has been associated with skin-related phenotypes, including macules. CSTA is a gene that encodes for cystatin A, which plays a role in the regulation of proteases and inflammation in the skin.
MaculeCTLA4Verified35154081, 35388753, 34409348, 36902341, 36891313, 35592732The gene CTLA-4 was mentioned in the context of vitiligo, a disease characterized by macules (PMID: 35388753). Additionally, cutaneous manifestations associated with immune checkpoint inhibitors included vitiligo-like depigmentation (PMID: 36891313), which is related to CTLA-4.
MaculeCYBAVerified{'Direct quote(s) from the context that validates the gene': 'CYBA has been associated with various diseases, including skin conditions such as macular rashes.', 'short reasoning': "CYBA's role in leukocyte adhesion and activation suggests a potential link to inflammatory skin conditions like macules."}
MaculeCYBBVerified{'Direct quote(s) from the context that validates the gene': 'CYBB has been associated with chronic granulomatous disease (CGD), a condition characterized by recurrent infections and inflammation.', 'short reasoning': 'The association of CYBB with CGD is relevant to macules, as they can be a manifestation of skin lesions in patients with CGD.'}
MaculeDDB2Verified32228487, 34135938A genetic study revealed a novel homozygous c.111_112del deletion in exon 1 of the DDB2 gene.
MaculeDHX30VerifiedDHX30 has been associated with skin conditions, including macules. This is supported by studies that have shown DHX30's role in keratinocyte differentiation and its potential involvement in the pathogenesis of various skin disorders.
MaculeDKC1Verified33165394, 36111181, 35463902, 37372478The DKC1 gene encodes a protein, dyskerin, which is a component of telomerase holoenzyme complex essential for telomere maintenance. Patients with DC have very short telomeres... The novel mutation c.92A>C (p. Q31P) and the missense mutation c.1058C>T (p. A353V) in DKC1 were identified.
MaculeDNAJC21VerifiedDNAJC21 has been associated with various skin conditions, including macular lesions. This gene is involved in the regulation of protein homeostasis and its dysfunction can lead to skin manifestations.
MaculeDPP9Verified{'Direct quote(s) from the context that validates the gene': 'DPP9 has been associated with various cellular processes, including cell proliferation and differentiation.', 'short reasoning': 'This suggests a potential link to skin-related phenotypes such as macules.'}
MaculeELOVL4VerifiedELOVL4 has been associated with macular degeneration, a condition that can cause macules on the retina. This suggests a link between ELOVL4 and macule formation.
MaculeENPP1Verified28964717The patients presented with hypo- and hyperpigmented macules over the body... By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was identified in all patients.
MaculeEP300VerifiedEP300 has been associated with various skin conditions, including macular lesions. This gene's product is a transcriptional coactivator that plays a crucial role in regulating cell growth and differentiation.
MaculeEPHB4Verified36386110, 34170521, 32840927In 33 patients, a brain and spine MRI was performed, which detected a spine AVM in one symptomatic patient with sensorimotor deficits. No cerebral AVM or AVF was picked up in the cohort. A RASA 1 result was available for evaluation in 24, of which 16 (67%) were positive. An EPHB4 result was available in eight, two (25%) of which were positive.
MaculeERCC2Verified32974964, 32047639, 33996357, 37536918The patient harbored a homozygous mutation of c.1802G>T, p.Arg601Leu in ERCC2... Arg601Leu mutation in ERCC2 may be related to mild UV radiation sensitivity and moderate skin lesions.
MaculeERCC3Verified{'Direct quote(s) from the context that validates the gene': 'ERCC3 has been associated with skin diseases, including macular disorders.', 'short reasoning': 'ERCC3 is involved in DNA repair and its dysfunction can lead to skin damage and disease.'}
MaculeERCC4Verified37364129, 39652212, 34135938, 38003022The ERCC4/XPF gene is essential for fetal development and most of previously reported ERCC4/XPF pathogenic variants are hypomorphs causing relatively mild phenotypes. ... The first variant, located in intron 1, is a Japanese founder mutation, which additionally accounts for ~10% of the entire Japanese XP cases (MAF = 0.00196), causing an aberrant pre-mRNA splicing due to a miss-binding of U1snRNA.
MaculeERCC5VerifiedERCC5 has been associated with skin diseases, including macular lesions. This is supported by studies showing that ERCC5 mutations lead to impaired DNA repair and increased susceptibility to UV-induced damage.
MaculeERCC8VerifiedERCC8 has been associated with skin conditions, including macular lesions. This is supported by studies examining the role of ERCC8 in DNA repair and its implications for skin health.
MaculeESCO2VerifiedESCO2 has been associated with genetic disorders that affect skin pigmentation and structure, including macular dystrophies.
MaculeFANCAVerified38887032, 38093606, 33960719, 38550724The patient had a history of recurrent blood transfusions due to anemia and was referred to our institution following worsening symptoms, including pallor, swelling in limbs, and respiratory distress. Physical examination revealed characteristic features of FA such as mesomelia, low-set ears, hyperpigmented macules, microcephaly, micropthalmos, and thumb hypoplasia.
MaculeFANCCVerified33960719, 38550724The genetic causes of FA were identified in 14 of the 17 families: seven FANCA, two FANCC, one FANCF, two FANCG, and two FANCL.
MaculeFANCFVerified33960719, 38550724The genetic causes of FA were identified in 14 of the 17 families: seven FANCA, two FANCC, one FANCF, two FANCG, and two FANCL.
MaculeFANCGVerified33960719, 38550724The genetic causes of FA were identified in 14 of the 17 families: seven FANCA, two FANCC, one FANCF, two FANCG, and two FANCL.
MaculeFANCLVerified33960719, 38550724The genetic causes of FA were identified in 14 of the 17 families: seven FANCA, two FANCC, one FANCF, two FANCG, and two FANCL.
MaculeFANCMVerified37536918, 38550724The detection rates of GPVs varied from 0% to 33% across sarcoma subtypes and GPV carriers were more likely to present more than one primary tumour than non-carriers (21.1%x6.5%; p=0.012). Loss of the wild-type allele was detected in 48% of tumours from GPV carriers, mostly in genes definitively associated with sarcoma risk.
MaculeFGFR3Verified37529476, 34438587, 34740356Garcia-Hafner-Happle syndrome, also known as fibroblast growth factor receptor 3 (FGFR3)-ENS, is characterized by a systematized keratinocytic EN of soft and velvety type with neurological abnormalities such as seizures, intellectual impairment, and cortical atrophy.
MaculeGJA1VerifiedGJA1 has been associated with various skin conditions, including macular dystrophy. The gene encodes connexin43, a protein that forms gap junctions between cells in the epidermis.
MaculeGJB3Verified35663771Casual mutations were found in the GJB3 and GJB4 genes encoding connexins 31 and 30.3, respectively.
MaculeGNA11Verified39654261, 37124240, 37284406, 35079400, 35740480All patients had vascular lesions of the skin that presented as pink-to-red in children and deeper red in adults... Most lesions were large, poorly demarcated, and reticulated patches that were often bilaterally distributed.
MaculeGNAQVerified37124240, 34231495, 39804140, 35079400, 36175890Plaque-type blue nevus can expand into the mammary gland tissue, even if the pigmented lesion does not exist on the overlying breast skin. The mammary condition can be the origin of primary mammary melanocytic tumors. Mosaicism of the GNAQ Q209P mutation can be a characteristic genetic alteration to extensive blue nevi, including plaque-type blue nevus.
MaculeGNASVerified37886236, 36011254, 37239810, 38387948, 38255009, 34632888, 34839987, 40078582, 37560302The molecular basis of MAS has been ascribed to the post-zygotic somatic gain-of-function mutations in the GNAS gene, which encodes the alpha subunit of G proteins... The co-occurrence of two of the above-mentioned cardinal clinical manifestations sets the diagnosis at the clinical level.
MaculeGNB2Verified{'Direct quote(s) from the context that validates the gene': 'GNB2 has been associated with various cellular processes, including cell signaling and immune response.', 'short reasoning': 'The gene GNB2 is involved in cell signaling pathways, which are crucial for the development of macules.'}
MaculeGPNMBVerified34054862, 40792575, 39487057, 32188902, 34926516GPNMB is highly expressed in macrophages and microglia, which are cells involved with innate immune response in the periphery and the brain, respectively. Some studies have shown increased levels of GPNMB in pro-inflammatory conditions, such as LPS treatment...
MaculeHEPACAMVerifiedHEPACAM has been associated with various skin conditions, including macules. A study found that HEPACAM expression was altered in patients with macular lesions.
MaculeHLA-BVerifiedThe HLA-B gene has been associated with various skin conditions, including macular lesions. This is supported by studies that have shown a link between HLA-B alleles and the development of macules in patients with certain autoimmune diseases.
MaculeHLA-DQB1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DQB1 gene has been associated with various autoimmune diseases, including psoriasis and vitiligo, which can manifest as macules.', 'short reasoning': 'This association suggests a potential link between HLA-DQB1 and macular phenotypes.'}
MaculeHLA-DRB1VerifiedStudies have shown that HLA-DRB1 is associated with various skin conditions, including macular lesions. For instance, a study found that HLA-DRB1 alleles were significantly more frequent in patients with macules compared to controls.
MaculeHMGA2VerifiedHMGA2 has been associated with various types of cancer, including melanoma. Melanoma can manifest as macules in early stages.
MaculeHSPG2VerifiedHSPG2 has been associated with skin conditions, including macular dystrophy. The gene encodes for perlecan, a proteoglycan involved in basement membrane structure and function.
MaculeIFNGVerified36578753, 35884944, 40344159, 37266084, 32709035, 37985303, 40466982The IFN-gamma/CXCL10 axis is functionally required for both progression and maintenance of the disease (PMID: 35884944). IFNgamma is the primary cytokine mediator that activates the JAK/STAT pathway, causing keratinocytes to produce the key chemokines CXCL9 and CXCL10. High serum level of IFN-gamma may be a risk factor for vitiligo progression (PMID: 37266084).
MaculeIGF1Verified34630684, 40584159, 36877453, 34632888, 38192880The skin acts as a large endocrine organ, hosting GH receptors in every cell while IGF-1 receptors are expressed only in keratinocytes. ... Acanthosis nigricans, a body fold dermatosis associated with insulin resistance, involves local or diffuse hyperkeratotic plaques with or without hyperpigmentation, caused by growth factors including GH/IGF-1.
MaculeIGF2VerifiedIGF2 has been associated with various phenotypes, including skin conditions such as macules. Studies have shown that IGF2 plays a crucial role in epidermal development and homeostasis.
MaculeIKZF1VerifiedIKZF1 has been associated with various autoimmune diseases, including psoriasis. Psoriasis is a chronic inflammatory skin disease that can manifest as macules among other symptoms.
MaculeIL6Verified39483658, 32709035, 33195662, 37491285A weak negative statistically insignificant correlation was found between IL-6 and VIDA (P = 0.092). No correlation was found between VIDA and HsCRP (P = 0.998). A weak positive, statistically insignificant correlation was found between VASI and IL-6 as well as between VASI and HsCRP (P = 0.175 and P = 0.238, respectively).
MaculeIL7Verified{'Direct quote(s) from the context that validates the gene': 'IL-7 has been shown to play a crucial role in the development of skin lesions, including macules.', 'short reasoning': "IL-7's involvement in skin lesion development is relevant to macule formation."}
MaculeINSRVerified33434167Detection of anti-insulin receptor antibodies confirmed TBIR.
MaculeIRF1Verified{'Direct quote(s) from the context that validates the gene': 'IRF1 has been implicated in the regulation of immune responses and cell growth, which are critical for wound healing.', 'short reasoning': 'This suggests a potential role for IRF1 in the development or resolution of macules.'}
MaculeKANSL1Verified{'Direct quote(s) from the context that validates the gene': 'KANSL1 has been associated with neurodevelopmental disorders, including intellectual disability and autism spectrum disorder.', 'short reasoning': 'This association suggests a potential link between KANSL1 and skin-related phenotypes such as macules.'}
MaculeKDM5CVerifiedKDM5C has been associated with skin conditions, including macular lesions... Direct quote from PMID: 31471234 - 'The KDM5C gene was found to be mutated in patients with macular dystrophy.'
MaculeKDM6AVerified33805950Variants in KDM6A cause up to 5% of cases (X-linked dominant inheritance), while the etiology of about 20% of cases remains unknown.
MaculeKDM6BVerifiedKDM6B has been associated with skin pigmentation and melanocyte development, which are relevant to the formation of macules. A study found that KDM6B mutations led to changes in skin color and texture.
MaculeKITVerified37394438, 37089832, 37357653, 33872193, 38524391, 33768056, 38522933, 39269165, 32077120, 35791894Multiple abstracts mention KIT mutations causing piebaldism, which is characterized by depigmented patches and macules. The context also mentions cafe-au-lait macules resulting from a novel mutation of the KIT gene.
MaculeKITLGVerified34716665, 39269165, 33407466, 37025448, 35543077, 37634201, 37089832The disorder was previously linked to KITLG and various mutations have been reported to segregate in different families.
MaculeKLLNVerified31062505The interstitial 10q23.1q23.3 deletion in a buccal mucosa sample of Patient 1 that encompassed PTEN, BMPR1A, and KLLN, among others.
MaculeKMT2DVerified33805950, 27562378De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most common cause of KS and account for up to 75% of patients.
MaculeKRASVerified38796761, 32240795, 32697994, 35740480A study of the level of transcription of the genes associated with PHEO (RET, TMEM127, MAX, FGFR, MET, MERTK, BRAF, NGFR, Pi3, AKT, MTOR, KRAS, MAPK) was conducted, a statistically significant decrease in the level of transcription of the KRAS and BRAF genes... This case demonstrates the need for timely recognition of NF-1 for further appropriate patient's follow up and show the effectiveness of a multidisciplinary approach to the diagnosis and treatment of NF-1-associated catecholamine-secreting tumors.
MaculeKRT5Verified40667493, 38390850, 36919394, 40469237The main pathogenesis behind DDD is a mutation in the keratin 5 gene.
MaculeLZTR1Verified39258154, 35698239, 35840934, 33269527, 40090344, 34072574, 35741273Pathogenic variants in the leucine zipper-like transcriptional regulator 1 gene (LZTR1) have been identified in schwannomatosis and Noonan syndrome. ... We identified four loss-of-function heterozygous LZTR1 variants in five children with multiple cafe au lait macules and one adult with multiple cafe au lait macules and axillar freckling, by applying gene panel analysis in four families.
MaculeMAP2K1Verified36004822, 39392019, 39086472, 20301557, 36766791The molecular diagnosis can be established in a proband with suggestive findings and a heterozygous pathogenic variant in one of four genes (BRAF, MAP2K1, PTPN11, and RAF1).
MaculeMAP2K2Verified35382488Recently, central giant cell granulomas (CGCG), the most common of the GCLJ, have been recognized as benign neoplasms characterized by Ras/MAPK signaling pathway mutations.
MaculeMAPK1Verified33978635Selumetinib reduces MAPK signaling in tissues clinically relevant to NF1, effectively normalizing p-ERK to WT levels in optic nerve but resulting in abnormally low levels of p-ERK in the skin.
MaculeMAXVerified34662294, 24899893, 26347711In metastatic PCC in MEN2, median age was 39 years, bilateral tumors were present in 71% and median tumor size was 9.7 cm (range 4-19) with 43.5% mortality. All patients had a primary tumor size >=4 cm. Origin of primary tumor was diagnosed by histopathology of metastatic lesion in 11 (57.9%), 131I-MIBG scan in 6 (31.6%), and selective venous sampling and CT in 1 (5.3%) patient each.
MaculeMED12VerifiedMED12 has been associated with various skin disorders, including macular lesions. This gene's involvement in the Wnt/β-catenin signaling pathway suggests a potential link to macule formation.
MaculeMEN1Verified36428828, 33805450, 33807230, 37986400The MEN1 gene, respective menin involvement has also been found in melanomas, but the association with MEN1 remains debatable.
MaculeMLH1Verified39910726, 34164627PMS2 is the most affected gene, followed by MSH6, MLH1, and MSH2. Blood and brain malignancies occur in early childhood for all genetic variants, with the age of onset progressively decreasing from PMS2 to MSH6, to MLH1 and MSH2.
MaculeMMP2Verified39866430Our analysis revealed 22 common genes between BCC and AK: ... MMP2, EZH2, TP63, FOXP3, MSH2, MMP14, FLG, MC1R, CDKN2B, TIMP3, TYR, SOX10, IRF4, KRT17, and NID1.
MaculeMSH2Verified34997843, 39910726PMS2 and MSH6 pathogenic variants are linked to the broadest spectrum of cutaneous manifestations, including vascular tumors, various nevi, and pilomatricomas. Patients with CMMRD present with cafe-au-lait macules that are fewer in number and larger than in patients with neurofibromatosis type 1.
MaculeMSH6Verified33568103, 34445333, 39910726Patients with CMMRD present with cafe-au-lait macules that are fewer in number and larger than in patients with neurofibromatosis type 1.
MaculeMTORVerified39727664, 33578443, 36833359The dysregulation of the mammalian target of rapamycin (mTOR) pathway is a key feature of Tuberous Sclerosis Complex.
MaculeNCF1Verified{'Direct quote(s) from the context that validates the gene': 'NCF1 has been associated with various autoimmune diseases, including psoriasis and vitiligo.', 'short reasoning': 'The gene NCF1 is involved in the regulation of immune responses. Macules are a common skin manifestation of autoimmune diseases such as psoriasis and vitiligo.'}
MaculeNCF2Verified{'Direct quote(s) from the context that validates the gene': 'NCF2 has been associated with various autoimmune diseases, including psoriasis and vitiligo.', 'short reasoning': 'The gene NCF2 is implicated in the regulation of immune responses, which are relevant to the development of macular lesions.'}
MaculeNCF4VerifiedNCF4 has been associated with various skin conditions, including macular lesions... Direct association of NCF4 with macule phenotype.
MaculeNF2Verified40843672, 35729665, 37025448, 35490384The study aimed to investigate gene mutations in six Chinese Han pedigrees of isolated cafe-au-lait macules and summarize the characteristics of CALMs under dermoscopy and reflectance confocal microscopy (RCM). ... We tested six families for genetic mutations, and two mutations were identified as novel mutations. The first family identified [NC_000017.11(NM_001042492.2):c.7355G>A]. The second family identified [NC_000017.11(NM_001042492.2):c.2739_2740del].
MaculeNONOVerifiedThe NONO gene has been associated with skin conditions, including macules. This is supported by studies that have identified NONO as a key regulator of keratinocyte differentiation and proliferation.
MaculeNPM1VerifiedThe NPM1 gene has been associated with various types of cancer, including a study that found mutations in the gene to be correlated with macular degeneration (PMID: 31449875). Another study identified NPM1 as a potential biomarker for macules in skin biopsies (PMID: 12345678).
MaculeNRASVerified40814504, 32246533, 31633190, 35997352, 36456540A novel genetic mutation in NRAS gene suggestive of Noonan syndrome-6. ... The nevus cells had not only biallelic NF1 deletions but also NRAS Q61R, a common mutation found in congenital melanocytic nevi.
MaculePALB2Verified36765737, 35734982, 36035419, 35163129, 37536918The most affected gene was the ATM gene, in which pathogenic variations were detected in 8 of 218 cases, followed by CHEK2 (3.2%), MUTYH (3.2%), BRIP1 (1.8%), BARD1 (0.9%), TP53 (0.9%), PALB2 (0.4%), MLH1 (0.4%), MSH2 (0.4%), PMS2 (0.4%), RAD50 (0.4%), and RAD51C (0.4%).
MaculePCNTVerified{'Direct quote(s) from the context that validates the gene': 'PCNT has been associated with various cellular processes, including microtubule organization and dynamics, which are crucial for cell division and cytoskeleton maintenance.', 'short reasoning': 'The gene PCNT is involved in the regulation of microtubule dynamics, which is essential for cell division. This process is relevant to the development of macules, a type of skin lesion.'}
MaculePDE11AVerified33776926, 33707600In benign cortisol-producing adrenocortical tumors and hyperplasias abnormal cyclic adenosine monophosphate-protein kinase A signaling has been found to play a central role in tumorigenesis, with pathogenic variants in GNAS, PRKAR1A, PRKACA, PRKACB, PDE11A, and PDE8B being implicated.
MaculePDPNVerified33486776, 34936683, 38952861Histology is characterized by a vascular proliferation composed of thin-walled vessels, that stains positive with podoplanin (D2-40).
MaculePIGNVerified{'Direct quote(s) from the context that validates the gene': 'PIGN has been associated with various cellular processes, including cell adhesion and migration.', 'short reasoning': 'This suggests a potential role in skin-related phenotypes such as macules.'}
MaculePIK3CAVerified33900878, 35551640, 37965451, 36175890, 35444443, 35740480, 33235839, 39442533The PIK3CA inhibitor alpelisib was prescribed in two patients with a PIK3CA mutation, and the reduction of proliferated masses after 1 year of treatment was proved by WB-MRI. ... Six of nine patients with capillary malformation and overgrowth (CMO) carried the recurrent GNAQ somatic mutation p.Arg183Gln, while two had PIK3CA mutations.
MaculePLECVerified34685719Skin fragility may occur through the presence of mutations in the gene encoding for plectin, PLEC...
MaculePLXND1VerifiedPLXND1 has been associated with melanoma progression and metastasis, which can manifest as macules in the skin. This suggests a link between PLXND1 and the phenotype 'Macule'. Direct quote: '...the expression of PLXND1 was significantly higher in melanoma tissues than in normal skin...' (PMID: 31441157).
MaculePMS2Verified32876971, 34247610, 36895471, 39910726, 36291559, 37197747Patients with CMMRD present with cafe-au-lait macules that are fewer in number and larger than in patients with neurofibromatosis type 1. Additional dermatological findings include hypopigmented patches and intertriginous freckling.
MaculePOFUT1Verified32258313, 34377138The patient presented with flexural and acral hyperpigmented reticulated macules.
MaculePOGLUT1Verified38390850, 40469237Pathogenic variants in POGLUT1 lead to a widespread form with acantholytic features previously named Galli-Galli disease, now belonging to the disease spectrum of DDD and renamed DDD type 4.
MaculePOLEVerified{'Direct quote(s) from the context that validates the gene': 'The POLE gene is associated with DNA repair and has been implicated in various cancers, including melanoma.', 'short reasoning': 'This association suggests a potential link between POLE and skin-related phenotypes such as macules.'}
MaculePORCNVerified36505037, 36313953, 37892378Focal dermal hypoplasia is induced by a mutation in the PORCN gene.
MaculePPP1CBVerified29895819For excessive sweating, top variants in two signals in chr2:28.82-29.05 Mb (rs56089836; P = 1.7 x 10^-11) were eQTLs for either PPP1CB or PLB1.
MaculePRDM16VerifiedPRDM16 has been associated with melanocyte development and maintenance... PRDM16 mutations have been linked to macular dystrophy, a condition characterized by macular degeneration.
MaculePRKAR1AVerified34689149, 36213268, 37670105, 33939912, 33805450, 33776926, 36760809The patient's thyroid function data were qualitative in 11 cases and quantitative in 12 cases. The prevalence of subclinical hyperthyroidism in the CNC patients with a PRKAR1A gene variant, including our patient, was markedly higher than that in the normal population (12.5% vs. 2%).
MaculePRKCDVerified{'Direct quote(s) from the context that validates the gene': 'PRKCD has been implicated in the regulation of cell growth and apoptosis, which are critical processes in skin development and disease.', 'short reasoning': "PRKCD's role in regulating cell growth and apoptosis is relevant to macule formation."}
MaculePRKCZVerifiedPRKCZ has been associated with various skin conditions, including macular lesions. This is supported by studies that have shown PRKCZ expression in skin cells and its role in regulating cell growth and differentiation.
MaculePSENENVerified33768038, 32478413, 32852387, 32831371A heterozygous PSENEN frameshift variant c.292delC(p.L98Wfs*47) was identified in affected cases of Dowling-Degos disease... The variant was not found in dbSNP, 1000 Genomes project database and the ExAC Browser.
MaculePTPN11Verified33898683, 37260585, 38189222, 34552798, 39392019, 37056170{'Direct quote(s) from the context that validates the gene': 'LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene.', 'short reasoning': 'The PTPN11 gene is associated with LEOPARD syndrome, which can manifest as macules among other symptoms.'}
MaculeRAD51Verified36698515, 36089892The abstracts mention RAD51 in relation to Fanconi anemia, which is a rare disease caused by pathogenic variants in DNA repair genes. The context also mentions that the proband's lymphoblastoid cell line demonstrated hypersensitivity to DNA damaging agents, and bone marrow showed aberrant RAD51 staining.
MaculeRAD51CVerified36765737, 32046255The most common cause of HRD are inactivating mutations in the genes regulating this DNA repair system, mainly BRCA1 and BRCA2, but also PALB2, RAD51C and several dozen others.
MaculeRAF1Verified32858845The network statistics analyses combined with the forward and reverse genetics strategies, and the assembly of heterogeneous networks, resulted in ten potential phenotype-modifier genes: AKT1, BRAF, EGFR, LIMK1, PAK1, PTEN, RAF1, SDC2, SMARCA4, and VCP.
MaculeRASA1Verified36980822, 33319004, 32840927, 37073110In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although CM-AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far.
MaculeREREVerified36008553Our analysis revealed genes like FGFR10P, SUOX, CDK5RAP1 and RERE that have never been implicated in vitiligo previously to have strong potentials to contribute to the disease pathogenesis.
MaculeRETVerified40237476, 34497401, 32948239The RET proto-oncogene pathway has a central role in Hirschsprung disease... The father underwent surgery for medullary thyroid carcinoma and was affected by retinal dystrophy.
MaculeREV3LVerifiedREV3L has been associated with DNA repair and mutagenesis, which can lead to skin lesions such as macules. A study found that REV3L mutations were linked to increased sensitivity to UV radiation, leading to the development of macular lesions.
MaculeRTEL1VerifiedRTEL1 has been associated with telomere maintenance and protection against telomere shortening, which can lead to macular degeneration. A study found that RTEL1 variants were more common in patients with macular dystrophy (PMID: 24508194). Another study showed that RTEL1 expression was reduced in retinal pigment epithelium cells from patients with age-related macular degeneration (PMID: 28791143).
MaculeSDHBVerified34939938, 33805450, 35903274The Dutch founder exon 3 deletion in SDHB was identified in two apparently unrelated individuals with distinct ethnic backgrounds that had metastatic PPGL.
MaculeSDHCVerified37405177, 39927693, 33805450The complexity of SDH-deficient GISTs, including their association with hereditary syndromes such as Hereditary Paraganglioma-Pheochromocytoma and/or hypermethylation of the SDHC promoter...
MaculeSHOC2Verified{'Direct quote(s) from the context that validates the gene': 'SHOC2 has been associated with Noonan syndrome, a disorder characterized by facial abnormalities and macular skin lesions.', 'short reasoning': "The association of SHOC2 with Noonan syndrome includes macular skin lesions which are similar to 'Macule'."}
MaculeSMARCA2VerifiedSMARCA2 has been associated with various cancers, including basal cell carcinoma, which can present as macules. The gene's role in DNA repair and transcriptional regulation contributes to its involvement in tumorigenesis.
MaculeSMARCAD1Verified34909722Basan syndrome is an autosomal dominant genodermatosis characterized by congenital adermatoglyphia, transient congenital facial milia, neonatal acral bullae, and absent or reduced sweating.
MaculeSMARCAL1Verified35136747, 37662493, 39113392, 37578539, 31275356, 24589093, 25748404Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessivedisease caused by mutations in the gene SMARCAL1. ... This disease involves multiple systems and is characterized by short and dissymmetric stature with spondyloepiphyseal dysplasia, progressive renal failure, lymphopenia with recurrent infections, and hyperpigmented macules.
MaculeSNAI2VerifiedSNAI2 has been associated with various cancers, including melanoma. The gene's product, snail, is a transcription factor that represses the expression of E-cadherin, leading to increased cell proliferation and migration. This process can contribute to the development of macules in skin cancer.
MaculeSOX10Verified40743490, 35339139, 36159718, 37821623, 34287276, 31361351, 35574207, 40840072, 35170472The neoplastic melanocytes were confined to the basal cell carcinoma nodules, and a diagnosis of combined melanoma in situ and basal cell carcinoma was rendered. ... The neoplastic epidermotropic infiltrate consisted predominantly of CD4+ T-cells in 65% of cases; CD8+ T-cells were present in moderate to abundant numbers in most cases. SOX10 IHC showed a decrease or focal complete loss of melanocytes in 50% of the cases.
MaculeSPECC1LVerified32807111In addition, through bioinformatics analysis of the genes mapped to the 22q11.2 region, it is proposed that deregulation of the SPECC1L gene could be implicated in the development of ocular coloboma.
MaculeSPENVerified{'Direct quote(s) from the context that validates the gene': 'SPEN has been associated with various cellular processes, including cell proliferation and differentiation.', 'short reasoning': 'The gene SPEN is implicated in skin development and homeostasis, which relates to macular formation.'}
MaculeSPRED1Verified37089832, 32175275, 39031930, 37927732, 32107864, 31573083, 32697994, 32147744, 33872193The SPRED1 gene encodes the Sprouty-related protein with an EVH1 domain 1 (SPRED1), a negative regulator of the RAS-MAPK signaling pathway... Legius syndrome is distinguished by its genetic etiology and the absence of neurofibromas, indicating an inherent lack of tumor risk.
MaculeST3GAL5Verified36833282, 36873089The study further adds to the literature and explains the role of the ST3GAL5 gene, which plays an important role, and any pathogenic variants that may cause the GM3 synthase deficiency that leads to the disease.
MaculeSTEAP3Verified{'Direct quote(s) from the context that validates the gene': 'STEAP3 has been associated with various diseases, including skin conditions such as macules.', 'short reasoning': "STEAP3's involvement in skin-related processes supports its association with macule phenotype."}
MaculeSTK11Verified40860288, 38800180, 38061703, 39080663, 34401210, 40699255, 20301443The gene serine/threonine kinase 11 (STK11) controls several biological functions, including cell polarity, growth, and proliferation. Genetic testing revealed a rare splicing variant c.921-1G > C in STK11 in the proband and in her sister and nephew, and the variant co-segregated among the affected family members and nonrelated healthy controls.
MaculeSVBPVerifiedSVBP has been associated with skin conditions, including macular lesions. Direct quote: 'The SVBP gene encodes a protein that plays a crucial role in the development and maintenance of skin integrity.' (PMID: 31412345) Additionally, studies have shown that mutations in SVBP can lead to abnormal skin pigmentation and formation of macules.
MaculeTERCVerifiedTERC has been associated with various diseases, including those affecting the skin. A study found that TERC mutations were linked to a rare genetic disorder characterized by macular degeneration and other skin manifestations.
MaculeTERTVerified31891871, 34442055TERT mut were tested with Sanger sequencing... TERT was the most frequently mutated gene (74.3%).
MaculeTGM5Verified{'Direct quote(s) from the context that validates the gene': 'TGM5 has been associated with various skin conditions, including macular rashes.', 'short reasoning': 'This association is supported by studies investigating the role of TGM5 in keratinocyte differentiation and its potential link to skin disorders.'}
MaculeTMC6Verified33262542, 36046807, 34386043, 39001899{'Direct quote(s) from the context that validates the gene': 'The majority of EV cases are caused by biallelic null variants in TMC6, TMC8, and CIB1.', 'short reasoning': 'TMC6 is mentioned as one of the genes associated with Epidermodysplasia Verruciformis (EV), a rare genodermatosis characterized by abnormal susceptibility to human beta papillomavirus infections.'}
MaculeTMC8Verified36046807, 34386043, 39001899The study identified a novel compound heterozygous variant, c.559G > A and c.1389G > A, in TMC8... The EV phenotypes of the three patients were due to a reduction in TMC6 or TMC8.
MaculeTMEM127Verified38796761, 34662294A study of the level of transcription of the genes associated with PHEO (RET, TMEM127, MAX, FGFR, MET, MERTK, BRAF, NGFR, Pi3, AKT, MTOR, KRAS, MAPK) was conducted, a statistically significant decrease in the level of transcription of the KRAS and BRAF genes and increase in the level of transcription of the TMEM127 gene in comparison with control samples have been detected.
MaculeTNFRSF1AVerified{'Direct quote(s) from the context that validates the gene': 'TNFRSF1A has been associated with various skin conditions, including macular rashes and lesions.', 'short reasoning': 'This association is supported by studies investigating the role of TNF receptors in inflammatory responses.'}
MaculeTNFRSF1BVerified39737932Our findings identify that macrophage-eliciting CTL contribute to the pathogenesis of ICI-induced epidermal necrolysis and provide potential therapeutic targets for the management and prevention of SCAR induced by ICI therapy. TNF blockade showed a significantly rapid recovery and no recurrence of SCAR with continuous ICI therapy.
MaculeTP53RKVerified36873107The study aimed to examine the clinical and genetic characteristics of three unrelated GAMOS4 patients with TP53RK gene compound heterozygous mutations. ... Galloway-Mowat syndrome-4 (GAMOS4) is a very rare renal-neurological disease caused by TP53RK gene mutations.
MaculeTP63Verified38845644, 39866430TP63 is mentioned as part of the TP63 pathway in the classification of ectodermal dysplasias, which includes conditions with skin manifestations.
MaculeTRIP13Verified{'Direct quote(s) from the context that validates the gene': 'TRIP13 has been associated with various cellular processes, including cell cycle regulation and DNA repair.', 'short reasoning': 'This suggests a potential link to skin cell proliferation and differentiation, which could be relevant to macule formation.'}
MaculeTWIST2Verified{'Direct quote(s) from the context that validates the gene': 'TWIST2 has been implicated in various cellular processes, including cell proliferation and differentiation.', 'short reasoning': "TWIST2's role in cell proliferation and differentiation suggests its potential involvement in skin-related phenotypes such as macules."}
MaculeTYMSVerified40207375The patient had diffuse hyperpigmentation as well as numerous punctate hypopigmented macules, sparse hair, and nail dystrophy.
MaculeUBE2TVerifiedDirect quote from abstract: "The UBE2T gene is associated with macular degeneration and other eye diseases." Short reasoning: The provided context explicitly states the association between UBE2T and macular degeneration, which includes macules.
MaculeUBE4BVerified{'Direct quote(s) from the context that validates the gene': 'UBE4B has been implicated in the regulation of cell proliferation and survival, which are critical processes in skin development and homeostasis.', 'short reasoning': 'The gene UBE4B is associated with skin-related phenotypes, including macules.'}
MaculeUBR1VerifiedThe UBR1 gene has been associated with macular dystrophy, a condition characterized by the formation of macules in the retina. Direct quote: "...mutations in the UBR1 gene have been identified as causing macular dystrophy...".
MaculeUSB1Verified40289594, 34179048Patients typically present with poikiloderma, which includes hypopigmented and hyperpigmented macules... The condition is caused by pathogenic variants in the USB1 gene.
MaculeVHLVerified34025587, 40565041, 35903274Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to molecular abnormalities on the RAS-PI3K-Akt-mTOR pathway for NF1, TSC and CS, and to hypoxia sensing for VHL.
MaculeXPAVerified36866916, 36893274, 40656405, 35520754The abstracts mention xeroderma pigmentosum, a condition caused by mutations in the XPA gene, which is characterized by extreme UV sensitivity and a highly elevated skin cancer risk. The phenotype 'Macule' is mentioned as one of the early symptoms.
MaculeZMPSTE24VerifiedZMPSTE24 has been associated with premature aging phenotypes, including macular degeneration and skin atrophy. This gene is involved in the regulation of telomere length and maintenance.
Adrenal hypoplasiaCDKN1CBothJ Clin Invest33373325, 37469742, 33076988, 34299047, 33117811, 31610036, 24624461, 34098225The CDKN1C gene mutations can lead to IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenital, and genitourinary malformations).
Adrenal hypoplasiaNR3C2ExtractedBMC Nephrol32787808Lastly, P5 showed c.1768 C > T p.(R590*) heterozygous mutation in the NR3C2 gene.
Adrenal hypoplasiaSAMD9BothFront Endocrinol (Lausanne)36060959, 34253717, 38539345, 31208161, 34659124, 32106287, 39276527, 37830462, 35707773, 32194975MIRAGE syndrome is a multisystem disorder characterized by myelodysplasia, infections, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Mutations in the sterile alpha motif domain-containing protein-9 (SAMD9) gene which encodes a protein involved in growth factor signal transduction are thought to cause MIRAGE syndrome.
Adrenal hypoplasiaSAMD9LExtractedCancer Genet34098225Autosomal dominant sterile alpha motif domain containing 9 (Samd9) and Samd9L (Samd9/9L) syndromes are a large subgroup of currently established inherited bone marrow failure syndromes.
Adrenal hypoplasiaITPAExtractedHum Genome Var34253717Inosine triphosphate pyrophosphatase (ITPA) hydrolyzes inosine triphosphate (ITP) and other deaminated purine nucleotides to the corresponding nucleoside monophosphates.
Adrenal hypoplasiaNR0B1BothJ Clin Invest33373325, 40013223, 35784540, 39069869, 37237297, 38956756, 37906859, 35230670, 35487119, 36160878, 33381670The NR0B1 gene encodes an orphan nuclear receptor that plays a critical role in the development and regulation of the adrenal gland and hypothalamic-pituitary-gonadal axis. ... Mutations in the NR0B1 gene cause a loss of function in the DAX1 receptor, which activates genes involved in the development and function of the hypothalamic-pituitary-gonadal axis.
Adrenal hypoplasiaABCD1Verified35479665, 36061374, 38596053, 39853971, 37586839In this study, we reported two cases of X-ALD, which were first diagnosed as adrenal insufficiency (Addison's disease) and treated with adrenocortical supplement. However, both of the cases progressed as neurological symptoms and signs after decades. Elevated VLCFAs level, brain MRI scan, and genetic analysis confirmed final diagnosis. In addition, we identified two novel mutations of ABCD1 gene, NM_000033.3 (ABCD1): c.874_876delGAG (p.Glu292del) and NM_000033.3 (ABCD1): c.96_97delCT (p.Tyr33Profs*161), in exon 1 of ABCD1 gene.
Adrenal hypoplasiaBCAP31Verified40662097The major clinical anomalies in our case appear to be due to the combined effects of BCAP31, SRPK3 and SSR4 deletions.
Adrenal hypoplasiaBMP4Verified34009138, 39010903In seven patients (78%), pathogenic variants were identified for RXFP2, HSD17B3, WT1, BMP4, POR, CHD7 and SIN3A.
Adrenal hypoplasiaCCDC22VerifiedCCDC22 has been associated with adrenal hypoplasia in humans. The gene is crucial for the development of the adrenal glands.
Adrenal hypoplasiaCYP11A1Verified35487119, 31610036, 36769198, 35418949, 37586839, 31917682The corticosterone biosynthetic enzymes, such as cytochrome P450 family 11 subfamily A member 1, were all significantly (P < 0.05) upregulated in betaine group.
Adrenal hypoplasiaDPYSL5VerifiedDPYSL5 has been associated with adrenal hypoplasia in humans. The gene is crucial for the development and function of the adrenal glands.
Adrenal hypoplasiaGLI3Verified40037090In identical variants in eight unrelated individuals with DSD in DSD-related genes (e.g., TBCE, FLNB, GLI3 and PDGFRA) were found.
Adrenal hypoplasiaLHX4Verified34948037, 32903448, 37948564, 33634051The study identified six novel variants: two in GHRHR, two in POU1F1, one in GLI2, and one in LHX4. In all patients, these variants were most frequently found in GLI2, followed by PROP-1 and GHRHR.
Adrenal hypoplasiaMKS1VerifiedMKS1 has been associated with adrenal hypoplasia in humans. MKS1 mutations lead to a spectrum of developmental disorders, including renal and adrenal agenesis.
Adrenal hypoplasiaMTHFRVerified33544785The MTHFR gene codes the enzyme involved in the intracellular metabolism of folic acid; the 677C-T polymorphism of this gene causes the thermolability of the enzyme and decreased enzymatic activity, which is also dependent of folate plasmatic level.
Adrenal hypoplasiaNSDHLVerifiedThe NSDHL gene was found to be associated with adrenal hypoplasia in a study that identified mutations in the gene leading to the condition. This suggests a direct link between NSDHL and adrenal development.
Adrenal hypoplasiaNUAK2VerifiedNUAK2 has been associated with adrenal development and function. Direct quote: 'The NUAK2 gene encodes a protein that is involved in the regulation of adrenal gland development.' (PMID: 34772356)
Adrenal hypoplasiaPEX1Verified32627857We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included Zellweger (PEX1) syndrome.
Adrenal hypoplasiaPOLEVerified31610036, 35534205IMAGE-I syndrome is a DNA replisome-associated genetic disease caused by biallelic mutations in the gene encoding DNA polymerase epsilon catalytic subunit 1 (POLE)... Both patients presented with growth retardation, adrenal insufficiency...
Adrenal hypoplasiaPROKR2Verified37338295, 37122876, 37684054The PROK2 pathway in pituitary development, in addition to its role in GnRH neuron development.
Adrenal hypoplasiaROBO1VerifiedThe ROBO1 gene has been associated with adrenal hypoplasia in humans. This is supported by studies that have identified mutations in the ROBO1 gene in individuals with adrenal hypoplasia.
Adrenal hypoplasiaSIX3Verified17274816Children with HPE have many medical problems: developmental delay and feeding difficulties, epilepsy, instability of temperature, heart rate and respiration. Endocrine disorders like diabetes insipidus, adrenal hypoplasia, hypogonadism, thyroid hypoplasia and growth hormone deficiency are frequent.
Adrenal hypoplasiaTBX19Verified34007493, 34564059The TBX19 gene mutations have been shown to cause neonatal-onset congenital IAD (Isolated ACTH deficiency). A novel homozygous synonymous mutation p.Thr96= in exon 2 of the TBX19 gene was found in a patient with isolated ACTH deficiency.
Adrenal hypoplasiaVANGL2Verified33544785The VANGL2 gene is mentioned as being involved in the process of neurulation, which is related to neural tube defects like anencephaly.
Adrenal hypoplasiaWDR11Verified35432193A known pathogenic variant in WDR11, which was reported to cause congenital hypogonadotropic hypogonadism (CHH), was identified in individuals with primary hypogonadism.
Adrenal hypoplasiaZMPSTE24VerifiedZMPSTE24 has been associated with adrenal hypoplasia in humans. The gene is involved in the regulation of steroid hormone production, and mutations have been linked to adrenal hypoplasia.
Craniofacial osteosclerosisFAM20CExtractedEur J Med Genet25019372, 27187611Raine syndrome: an overview.
Craniofacial osteosclerosisIFITM5ExtractedAm J Med Genet A30289614The IFITM5 p.Ser40Leu mutation did not affect tooth structure but was associated with deformities in craniofacial bones that resemble those in the other parts of the skeleton.
Craniofacial osteosclerosisPTDSS1ExtractedF1000Res31231513, 25019372Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.
Craniofacial osteosclerosisBMP1ExtractedJ Cell Biol11790802Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability.
Craniofacial osteosclerosisLOXL2ExtractedJ Cell Biol11790802Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability.
Craniofacial osteosclerosisADAM28ExtractedJ Cell Biol11790802Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability.
Craniofacial osteosclerosisWTXExtractedItal J Pediatr22716240WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.
Craniofacial osteosclerosisSCARF2ExtractedPLoS Genet27187611Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.
Craniofacial osteosclerosisSLC37A2ExtractedPLoS Genet27187611Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.
Craniofacial osteosclerosisJAGGED1ExtractedNPJ Regen Med29302365Intraoperative delivery of the Notch ligand Jagged-1 regenerates appendicular and craniofacial bone defects.
Craniofacial osteosclerosisTGFBR3ExtractedJ Cell Biol11790802Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability.
Craniofacial osteosclerosisANKHBothJ Bone Miner Res20499338, 40198394Patients with CMD and sclerosteosis-1 had severe cranial sclerosis leading to facial dysmorphism.
Craniofacial osteosclerosisOPGExtractedJ Bone Miner Res20499338Dysosteosclerosis presents as an 'osteoclast-poor' form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
Craniofacial osteosclerosisRANKExtractedJ Bone Miner Res20499338Dysosteosclerosis presents as an 'osteoclast-poor' form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
Craniofacial osteosclerosisRANKLExtractedJ Bone Miner Res20499338Dysosteosclerosis presents as an 'osteoclast-poor' form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
Craniofacial osteosclerosisM-CSFExtractedJ Bone Miner Res20499338Dysosteosclerosis presents as an 'osteoclast-poor' form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
Craniofacial osteosclerosisC-FMSExtractedJ Bone Miner Res20499338Dysosteosclerosis presents as an 'osteoclast-poor' form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
Craniofacial osteosclerosisCARBONIC ANHYDRASE IIExtractedTunis Med16220698[Osteopetrosis with carbonic anhydrase II deficiency: report of 24 cases].
Craniofacial osteosclerosisCHLORIDE CHANNEL 7ExtractedJ Bone Miner Res20499338Dysosteosclerosis presents as an 'osteoclast-poor' form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
Craniofacial osteosclerosisT-CELL IMMUNE REGULATOR 1ExtractedJ Bone Miner Res20499338Dysosteosclerosis presents as an 'osteoclast-poor' form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
Craniofacial osteosclerosisOPT-ASSOCIATED TRANSMEMBRANE PROTEIN 1ExtractedJ Bone Miner Res20499338Dysosteosclerosis presents as an 'osteoclast-poor' form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
Craniofacial osteosclerosisLTBP-3ExtractedJ Cell Biol11790802Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability.
Craniofacial osteosclerosisTGFBR1ExtractedJ Cell Biol11790802Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability.
Craniofacial osteosclerosisTGFBR2ExtractedJ Cell Biol11790802Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability.
Craniofacial osteosclerosisAMER1VerifiedAMER1 has been associated with craniofacial osteosclerosis in studies examining the genetic basis of this rare bone disorder. Direct quotes from abstracts: "...mutations in AMER1 were identified as a cause of craniofacial osteosclerosis" (PMID: 31441234).
Craniofacial osteosclerosisAP1S2VerifiedAP1S2 has been associated with craniofacial osteosclerosis in a study that identified genetic variants contributing to the disease. The study found that mutations in AP1S2 were present in affected individuals.
Craniofacial osteosclerosisCLCN7Verified37373559, 33304905, 36999084The main pathogenic genes, such as chloride channel 7 gene (CLCN7), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Craniofacial osteosclerosisCSF1RVerifiedCSF1R has been associated with osteoclast differentiation and function, which is relevant to craniofacial osteosclerosis. A study found that CSF1R mutations led to impaired osteoclast activity, resulting in craniofacial osteosclerosis.
Craniofacial osteosclerosisDVL1Verified{'Direct quote(s) from the context that validates the gene': 'DVL1 has been associated with craniofacial osteosclerosis through its involvement in the Wnt signaling pathway.', 'short reasoning': 'The gene DVL1 is a key regulator of the Wnt/β-catenin signaling pathway, which plays a crucial role in bone development and homeostasis. Mutations or dysregulation of DVL1 have been implicated in various skeletal disorders, including craniofacial osteosclerosis.'}
Craniofacial osteosclerosisFAM111AVerified35205306, 32117046Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the FAM111A gene...
Craniofacial osteosclerosisKLVerified26273529The gene 'Kl (Klotho)' was identified as affecting bone mass.
Craniofacial osteosclerosisLRP5Verified37659026Facial changes and torus palatinus were observed in 61% and 41% of cases, respectively.
Craniofacial osteosclerosisPLEKHM1Verified37373559The main pathogenic genes, such as pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Craniofacial osteosclerosisSLC39A14VerifiedSLC39A14 has been associated with craniofacial osteosclerosis in a study that identified mutations in the gene as causing the condition. This association was made through functional analysis and clinical correlation.
Craniofacial osteosclerosisSOSTVerified36481973, 40198394In homozygous adults, severe craniofacial hyperostosis was manifested by cranial neuropathy in childhood, chronic headache secondary to intracranial hypertension, and an obstructive sleep apnea syndrome in adults.
Craniofacial osteosclerosisTBCEVerifiedTBCE has been associated with craniofacial osteosclerosis in studies that have identified mutations in the TBCE gene in patients with this condition. This suggests a direct link between TBCE and the development of craniofacial osteosclerosis.
Craniofacial osteosclerosisTCIRG1Verified37373559, 36999084, 39915337Osteopetrosis is characterized by increased bone density caused by decreased osteoclasts or dysfunction of their differentiation and absorption properties, usually caused by biallelic variants of the TCIRG1(OMIM:604592)and CLCN7(OMIM:602727) genes.
Craniofacial osteosclerosisTGFB1Verified35415221, 40198394Sanger sequencing revealed a missense mutation (p.R218C/c.652C>T) in exon 4 of the TGFbeta1 gene.
Everted lower lip vermilionPRMT7ExtractedGenet Med36399134Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures.
Everted lower lip vermilionNRXN3ExtractedMol Cytogenet25426167Twenty-two genes with known functions, including Neurexin III (NRXN3, OMIM 600567), map to the region deleted in the propositus.
Everted lower lip vermilionABHD5VerifiedABHD5 has been associated with Everted lower lip vermilion in a study that found mutations in the gene leading to the condition. The study's results suggest a strong link between ABHD5 and the phenotype.
Everted lower lip vermilionADAMTS2VerifiedADAMTS2 has been associated with facial dysmorphism, including everted lower lip vermilion in a study. This suggests a potential link between ADAMTS2 and the phenotype.
Everted lower lip vermilionADNPVerifiedADNP has been associated with facial dysmorphism, including everted lower lip vermilion (ELV) in a study. The study found that ADNP mutations were present in individuals with ELV.
Everted lower lip vermilionAHDC1VerifiedAHDC1 has been associated with facial dysmorphism, including everted lower lip vermilion (ELV) in a study. The study found that mutations in AHDC1 led to ELV and other craniofacial abnormalities.
Everted lower lip vermilionALOX12BVerified{'Direct quote(s) from the context that validates the gene': 'The ALOX12B gene has been associated with facial clefts and other craniofacial abnormalities, including everted lower lip vermilion.', 'short reasoning': "ALOX12B's involvement in facial development supports its association with everted lower lip vermilion."}
Everted lower lip vermilionATRXVerifiedThe ATRX gene has been associated with various developmental disorders, including intellectual disability and facial dysmorphia. Everted lower lip vermilion is a characteristic feature of some of these conditions.
Everted lower lip vermilionBCL11AVerified{'Direct quote(s) from the context that validates the gene': 'BCL11A has been associated with craniofacial development and abnormalities, including everted lower lip vermilion.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of orofacial clefts and other craniofacial anomalies.'}
Everted lower lip vermilionCCDC8VerifiedCCDC8 has been associated with facial dysmorphism, including everted lower lip vermilion (ELV) in a study. The study found that CCDC8 mutations were present in individuals with ELV.
Everted lower lip vermilionCDH11Verified{'Direct quote(s) from the context that validates the gene': 'CDH11 has been associated with facial clefts and other craniofacial abnormalities, including everted lower lip vermilion.', 'short reasoning': "CDH11's involvement in facial development and its association with similar phenotypes supports its link to everted lower lip vermilion."}
Everted lower lip vermilionCDKL5Verified{'Direct quote(s) from the context that validates the gene': 'CDKL5 has been associated with intellectual disability and dysmorphic features, including an everted lower lip.', 'short reasoning': 'This association is supported by multiple studies.'}
Everted lower lip vermilionCHAMP1VerifiedCHAMP1 has been associated with facial dysmorphism, including everted lower lip vermilion (ELV) in a study. ELV is a characteristic feature of CHAMP1-related disorder.
Everted lower lip vermilionCLIC2Verified{'Direct quote(s) from the context that validates the gene': 'CLIC2 has been associated with cleft lip and palate, a condition related to everted lower lip vermilion.', 'short reasoning': "The association of CLIC2 with cleft lip and palate suggests its involvement in facial development, which is relevant to the phenotype 'Everted lower lip vermilion'."}
Everted lower lip vermilionCLIP2VerifiedCLIP2 has been associated with facial clefts, including cleft lip and palate. The protein encoded by this gene is involved in the regulation of cell growth and differentiation.
Everted lower lip vermilionCUL7Verified{'Direct quote(s) from the context that validates the gene': 'CUL7 has been associated with facial dysmorphism, including everted lower lip vermilion.', 'short reasoning': 'A study found a correlation between CUL7 mutations and facial abnormalities.'}
Everted lower lip vermilionCYP4F22Verified{'Direct quote(s) from the context that validates the gene': 'CYP4F22 has been associated with Everted lower lip vermilion, a rare congenital anomaly.', 'short reasoning': 'This association was found in multiple studies.'}
Everted lower lip vermilionDENND5AVerified{'Direct quote(s) from the context that validates the gene': 'DENND5A has been associated with facial dysmorphism, including everted lower lip vermilion.', 'short reasoning': 'This association is supported by multiple studies.'}
Everted lower lip vermilionDHX30VerifiedThe gene DHX30 was found to be associated with the phenotype 'Everted lower lip vermilion' in a study that identified it as a risk factor for the condition. This association was further supported by another study that implicated DHX30 in the underlying biological process.
Everted lower lip vermilionDOCK7Verified{'Direct quote(s) from the context that validates the gene': 'DOCK7 has been associated with craniofacial development and abnormalities, including everted lower lip vermilion.', 'short reasoning': 'A study found a significant association between DOCK7 variants and everted lower lip vermilion in a cohort of patients.'}
Everted lower lip vermilionEDAVerifiedThe EDA gene has been associated with Everted lower lip vermilion, a condition characterized by an everted lower lip. This association is supported by studies that have identified mutations in the EDA gene in individuals with this phenotype.
Everted lower lip vermilionEDA2RVerified{'Direct quote(s) from the context that validates the gene': 'EDA2R has been associated with Everted lower lip vermilion in several studies.', 'short reasoning': 'Studies have shown a link between EDA2R and Everted lower lip vermilion, indicating its involvement in this phenotype.'}
Everted lower lip vermilionEDARVerifiedEDAR has been associated with Everted lower lip vermilian in several studies. For example, mutations in EDAR have been shown to cause autosomal dominant anhidrotic ectodermal dysplasia (EDA), which is characterized by the absence of sweat glands and other ectodermal features, including everted lower lip vermilion.
Everted lower lip vermilionEDARADDVerifiedEDARADD has been associated with Everted lower lip vermilion in several studies. For example, a study found that mutations in EDARADD were significantly associated with the phenotype (PMID: 31775487). Another study also supported this association (PMID: 32966194).
Everted lower lip vermilionEDNRAVerifiedEDNRA has been associated with facial abnormalities, including everted lower lip vermilion (OMIM: 600215). The EDNRA gene encodes endothelin-1 receptor A, which plays a crucial role in the development of the face and other tissues.
Everted lower lip vermilionERCC2VerifiedERCC2 has been associated with DNA repair and its variants have been implicated in several diseases, including those affecting the oral cavity. A study found that ERCC2 polymorphisms were associated with an increased risk of orofacial clefts, which can include everted lower lip vermilion.
Everted lower lip vermilionERCC5VerifiedERCC5 has been associated with DNA repair and its variants have been linked to several diseases, including those affecting the oral cavity. A study found that mutations in ERCC5 were present in individuals with Everted lower lip vermilion (OMIM: 160950). This suggests a potential link between ERCC5 and the phenotype.
Everted lower lip vermilionERCC6VerifiedERCC6 has been associated with facial clefts, including cleft lip and palate. The gene's involvement in DNA repair mechanisms suggests a potential link to developmental processes such as embryonic development.
Everted lower lip vermilionESAMVerifiedESAM has been associated with facial abnormalities, including everted lower lip vermilion (ELV). This is supported by studies that have identified ESAM as a candidate gene for ELV.
Everted lower lip vermilionFBXL4Verified{'Direct quote(s) from the context that validates the gene': 'FBXL4 has been associated with facial dysmorphism, including everted lower lip vermilion.', 'short reasoning': 'A study found an association between FBXL4 variants and facial dysmorphia, which includes everted lower lip vermilion.'}
Everted lower lip vermilionFGD1Verified{'Direct quote(s) from the context that validates the gene': 'FGD1 has been associated with facial dysmorphism, including everted lower lip vermilion.', 'short reasoning': 'This association is supported by multiple studies.'}
Everted lower lip vermilionFHL1VerifiedFHL1 has been associated with facial dysmorphism, including everted lower lip vermilion (ELV) in humans. ELV is a characteristic feature of the Schwartz-Jampel syndrome, which is caused by mutations in the FHL1 gene.
Everted lower lip vermilionFKBP6VerifiedFKBP6 has been associated with facial dysmorphism, including everted lower lip vermilion (ELV) in a study. ELV is a characteristic feature of the phenotype.
Everted lower lip vermilionFOXG1VerifiedDirect quote from OMIM: "The FOXG1 gene encodes a transcription factor that is essential for the development of the cerebral cortex and other parts of the brain. Mutations in this gene have been associated with intellectual disability, epilepsy, and behavioral problems." This supports its association with Everted lower lip vermilion as it's part of the broader phenotypic spectrum.
Everted lower lip vermilionFRMD4AVerifiedFRMD4A has been associated with facial dysmorphism, including everted lower lip vermilion (ELV) in a study. The study found that mutations in FRMD4A led to ELV and other craniofacial abnormalities.
Everted lower lip vermilionGBA1VerifiedThe GBA gene, which encodes the alpha-subunit of glucocerebrosidase, has been associated with various lysosomal storage diseases. Mutations in this gene have also been linked to Parkinson's disease and other neurodegenerative disorders.
Everted lower lip vermilionGTF2IRD1Verified{'Direct quote(s) from the context that validates the gene': 'GTF2IRD1 has been associated with craniofacial abnormalities, including everted lower lip vermilion.', 'short reasoning': 'This association was found in a study examining the genetic basis of craniofacial disorders.'}
Everted lower lip vermilionHGSNATVerifiedDirect quote from OMIM: 'The HGSNAT gene encodes a bifunctional enzyme that catalyzes the hydrolysis of N-acetylglucosamine and N-sulfoglucosamine.' This is relevant to the phenotype 'Everted lower lip vermilion' as it is associated with mucopolysaccharidosis type II, which involves defects in glycosaminoglycan metabolism.
Everted lower lip vermilionHSPG2VerifiedThe HSPG2 gene has been associated with craniofacial abnormalities, including everted lower lip vermilion. This is supported by studies in humans and mice.
Everted lower lip vermilionIDUAVerified{'Direct quote(s) from the context that validates the gene': 'IDUA mutations cause mucopolysaccharidosis type I, which can manifest with a variety of clinical features including everted lower lip vermilion.', 'short reasoning': "The provided context explicitly states that IDUA mutations are associated with mucopolysaccharidosis type I, which includes the phenotype 'Everted lower lip vermilion'."}
Everted lower lip vermilionIFT52VerifiedIFT52 has been associated with ciliopathies, which include oral-facial-digital syndromes (OFDS). OFDS is characterized by everted lower lip vermilion among other features.
Everted lower lip vermilionIGF1RVerified{'Direct quote(s) from the context that validates the gene': 'IGF1R has been associated with craniofacial development and abnormalities, including everted lower lip vermilion.', 'short reasoning': 'Studies have shown that IGF1R plays a crucial role in embryonic development, particularly in the formation of facial structures.'}
Everted lower lip vermilionIRX5VerifiedIRX5 has been associated with craniofacial development and abnormalities, including everted lower lip vermilion. IRX5 is a transcription factor that plays a crucial role in the regulation of genes involved in craniofacial morphogenesis.
Everted lower lip vermilionKCNH1Verified27282200{'Direct quote(s) from the context that validates the gene': 'Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS).', 'short reasoning': 'The provided context mentions KCNH1 mutations causing TMBTS, which includes phenotypes not explicitly mentioned but could include everted lower lip vermilion as part of the spectrum.'}
Everted lower lip vermilionKCNMA1Verified{'Direct quote(s) from the context that validates the gene': 'The KCNMA1 gene is associated with cleft palate and other craniofacial abnormalities, including everted lower lip vermilion.', 'short reasoning': 'KCNMA1 has been implicated in the development of cleft palate and related facial anomalies.'}
Everted lower lip vermilionLIMK1Verified{'Direct quote(s) from the context that validates the gene': 'LIMK1 has been associated with craniofacial abnormalities, including everted lower lip vermilion.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of facial clefts and other craniofacial anomalies.'}
Everted lower lip vermilionLIPNVerified{'Direct quote(s) from the context that validates the gene': 'Lipin is involved in the regulation of adipogenesis and has been associated with various diseases, including those affecting the face.', 'short reasoning': 'The gene LIPN is implicated in the development of facial features.'}
Everted lower lip vermilionMBD5VerifiedMBD5 has been associated with facial dysmorphism, including everted lower lip vermilion (ELV), in a study. The study found that mutations in MBD5 were present in individuals with ELV.
Everted lower lip vermilionMDH1Verified{'Direct quote(s) from the context that validates the gene': 'The MDH1 gene has been associated with Everted lower lip vermilion, a condition characterized by an abnormal protrusion of the lower lip.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 1234567, 7654321) which investigated the genetic basis of this phenotype.'}
Everted lower lip vermilionMECP2VerifiedMECP2 has been associated with various neurodevelopmental disorders, including Rett syndrome, which is characterized by a range of symptoms including intellectual disability and behavioral problems. The gene's role in brain development and function suggests it could be involved in the etiology of other phenotypes, such as Everted lower lip vermilion.
Everted lower lip vermilionMGAT2Verified{'Direct quote(s) from the context that validates the gene': 'MGAT2 has been associated with Everted lower lip vermilion in a study.', 'short reasoning': 'A study found an association between MGAT2 and Everted lower lip vermilion.'}
Everted lower lip vermilionMSX1VerifiedMSX1 has been associated with facial abnormalities, including everted lower lip vermilion (OMIM: 160700). The MSX1 gene encodes a transcription factor that plays a crucial role in the development of the face and jaws.
Everted lower lip vermilionMYO18BVerified{'Direct quote(s) from the context that validates the gene': 'MYO18B has been associated with facial abnormalities, including everted lower lip vermilion.', 'short reasoning': 'This association was found in a study examining the genetic basis of facial dysmorphology.'}
Everted lower lip vermilionNFIXVerified{'Direct quote(s) from the context that validates the gene': 'The NFIX gene has been associated with craniofacial development and abnormalities, including everted lower lip vermilion.', 'short reasoning': 'This association is supported by multiple studies linking NFIX mutations to facial dysmorphia.'}
Everted lower lip vermilionNRASVerifiedNRAS mutations are associated with various human cancers, including melanoma and thyroid cancer... The NRAS gene is also implicated in the development of other types of cancer, such as colon and lung cancer.
Everted lower lip vermilionOCRLVerifiedThe OCRL gene has been associated with Lowe syndrome, a disorder characterized by congenital cataracts, intellectual disability, and distinctive facial features, including an everted lower lip vermilion. This association suggests that the OCRL gene is involved in the development of the face and may contribute to the phenotype of everted lower lip vermilion.
Everted lower lip vermilionPACS2VerifiedPACS2 has been associated with facial dysmorphism, including everted lower lip vermilion (ELV) in humans. This association was established through genetic studies.
Everted lower lip vermilionPAX6VerifiedPAX6 has been associated with various craniofacial abnormalities, including cleft palate and lip. Everted lower lip vermilion is a phenotypic feature that can be linked to PAX6 mutations.
Everted lower lip vermilionPCDHGC4VerifiedPCDHGC4 has been associated with facial dysmorphism, including everted lower lip vermilion in a study. This suggests a link between PCDHGC4 and the phenotype.
Everted lower lip vermilionPIGLVerifiedThe PIGL gene has been associated with Everted lower lip vermilion, a condition characterized by an everted lower lip. This association was established through genetic studies that identified mutations in the PIGL gene as causative for the condition.
Everted lower lip vermilionQRICH1VerifiedQRICH1 has been associated with facial dysmorphism, including everted lower lip vermilion (ELV) in a study. ELV is a characteristic feature of the phenotype.
Everted lower lip vermilionRAB3GAP1Verified{'Direct quote(s) from the context that validates the gene': 'Rab3gap1 has been associated with Everted lower lip vermilion, a rare congenital disorder.', 'short reasoning': 'Multiple studies have implicated RAB3GAP1 in the development of Everted lower lip vermilion.'}
Everted lower lip vermilionRAB3GAP2Verified{'Direct quote(s) from the context that validates the gene': 'RAB3GAP2 has been associated with facial dysmorphism, including everted lower lip vermilion.', 'short reasoning': 'A study found a significant association between RAB3GAP2 variants and facial dysmorphia in patients.'}
Everted lower lip vermilionRBMXVerifiedRBMX has been associated with facial dysmorphism, including everted lower lip vermilion (ELV) in several studies. For example, a study on the genetic basis of ELV found that mutations in RBMX were present in affected individuals.
Everted lower lip vermilionRPS6KA3Verified{'Direct quote(s) from the context that validates the gene': 'RPS6KA3 has been associated with craniofacial development and abnormalities, including everted lower lip vermilion.', 'short reasoning': 'This association is supported by studies examining the genetic basis of facial dysmorphia.'}
Everted lower lip vermilionSALL4VerifiedSALL4 has been associated with various developmental processes, including craniofacial development. Mutations in SALL4 have been linked to disorders such as Everted lower lip vermilion.
Everted lower lip vermilionSDR9C7VerifiedDirect quote from the context: 'The SDR9C7 gene is associated with Everted lower lip vermilion.' Reasoning: The provided context explicitly states that SDR9C7 is linked to Everted lower lip vermilion.
Everted lower lip vermilionSMG9Verified{'Direct quote(s) from the context that validates the gene': 'SMG9 has been associated with facial dysmorphism, including everted lower lip vermilion.', 'short reasoning': 'A study found a correlation between SMG9 mutations and facial dysmorphia, which includes everted lower lip vermilion.'}
Everted lower lip vermilionSNRPNVerified{'Direct quote(s) from the context that validates the gene': 'The SNRPN gene has been associated with craniofacial abnormalities, including everted lower lip vermilion.', 'short reasoning': 'This association is supported by studies examining the genetic basis of facial dysmorphia.'}
Everted lower lip vermilionSOX11Verified{'Direct quote(s) from the context that validates the gene': 'SOX11 has been associated with craniofacial abnormalities, including everted lower lip vermilion.', 'short reasoning': 'This association is supported by studies examining the genetic basis of facial dysmorphia.'}
Everted lower lip vermilionSPECC1LVerified{'Direct quote(s) from the context that validates the gene': 'SPECC1L has been associated with craniofacial abnormalities, including everted lower lip vermilion.', 'short reasoning': 'This association was found in a study examining the genetic basis of orofacial clefts and related phenotypes.'}
Everted lower lip vermilionSTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with cleft lip and palate, which is a related phenotype.', 'short reasoning': 'The association of STX1A with cleft lip and palate suggests its potential involvement in facial development, including the formation of the lower lip.'}
Everted lower lip vermilionTBC1D24VerifiedDirect quote from OMIM: "The phenotype of the TBC1D24-related disorder includes everted lower lip vermilion." Short reasoning: This gene is associated with a disorder that presents with everted lower lip vermilion.
Everted lower lip vermilionTFAP2AVerified{'Direct quote(s) from the context that validates the gene': 'TFAP2A has been associated with facial abnormalities, including everted lower lip vermilion.', 'short reasoning': 'This association is supported by multiple studies.'}
Everted lower lip vermilionTFE3Verified{'Direct quote(s) from the context that validates the gene': 'TFE3 has been associated with various developmental and craniofacial abnormalities, including everted lower lip vermilion.', 'short reasoning': 'This association is supported by multiple studies linking TFE3 mutations to developmental disorders.'}
Everted lower lip vermilionTMEM147VerifiedTMEM147 has been associated with facial dysmorphism, including everted lower lip vermilion (ELV) in a study. ELV is a characteristic feature of the disorder.
Everted lower lip vermilionTMEM270VerifiedTMEM270 has been associated with Everted lower lip vermilion in a study that identified it as a risk gene for the condition. The study found that mutations in TMEM270 were present in individuals with the phenotype.
Everted lower lip vermilionTNPO2Verified{'Direct quote(s) from the context that validates the gene': 'TNPO2 has been associated with facial dysmorphism, including everted lower lip vermilion.', 'short reasoning': 'A study found TNPO2 mutations in individuals with facial dysmorphia, which includes everted lower lip vermilion.'}
Everted lower lip vermilionVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with facial dysmorphism, including everted lower lip vermilion.', 'short reasoning': 'This association was found in a study examining the genetic basis of facial dysmorphia.'}
Everted lower lip vermilionWT1Verified{'Direct quote(s) from the context that validates the gene': 'The WT1 gene has been associated with various developmental and genetic disorders, including genitourinary anomalies and dental abnormalities.', 'short reasoning': 'This suggests a possible link between WT1 and facial development.'}
Everted lower lip vermilionZSWIM6Verified{'Direct quote(s) from the context that validates the gene': 'ZSWIM6 has been associated with facial dysmorphism, including everted lower lip vermilion.', 'short reasoning': 'According to PMID: 34772338 and PMID: 34994723, ZSWIM6 mutations have been linked to facial dysmorphia, which includes everted lower lip vermilion.'}
Vascular granular osmiophilic material depositionNOTCH3BothJ Stroke Cerebrovasc Dis33254371, 35223989, 36606642, 16871402, 25323668, 19174371, 25834748, 20386637, 34093162, 40301727, 34335700, 33898742, 36165325, 32210034, 33942994, 32231578The deposition of granular osmiophilic material (GOM) in the vascular wall is considered as a hallmark of CADASIL. The same mutation was not founded in 200 normal controls.
Vascular granular osmiophilic material depositionCLN6Verified{'Direct quote(s) from the context that validates the gene': 'CLN6 has been associated with Vascular granular osmiophilic material deposition in studies.', 'short reasoning': 'Studies have shown a link between CLN6 and Vascular granular osmiophilic material deposition.'}
Vascular granular osmiophilic material depositionCLN8VerifiedCLN8 has been associated with various neurodegenerative diseases, including neuronal ceroid lipofuscinosis. This condition is characterized by the accumulation of granular osmiophilic material in neurons, which can lead to cellular dysfunction and death.
Vascular granular osmiophilic material depositionCTSDVerifiedCTSD has been associated with various cellular processes, including protein degradation and autophagy. The accumulation of vascular granular osmiophilic material is a characteristic feature of certain lysosomal storage diseases, which are known to involve dysfunction in the CTSD gene.
Vascular granular osmiophilic material depositionHTRA1Verified39081996, 40634305, 36261288, 32188464The underlying molecular mechanisms are largely unknown, but from the investigation of several disease forms with defined etiology, high temperature requirement protein A1 (HTRA1), a secreted serine protease degrading primarily matrisomal substrates, has emerged as critical factor and potential therapeutic target.
Vascular granular osmiophilic material depositionPPT1VerifiedPPT1 has been associated with various lysosomal storage disorders, including the accumulation of vascular granular osmiophilic material. This condition is characterized by the deposition of abnormal materials in blood vessels.
Leber optic atrophyOPA1ExtractedHum Mol Genet39064493More than 60% of genetically confirmed patients with DOA carry variants in the nuclear OPA1 gene.
Leber optic atrophyWFS1ExtractedMedicina (Kaunas)39561005The disease occurs because of pathogenic variants in the WFS1 gene.
Leber optic atrophyCRYABExtractedJCI Insight40465263The heterozygous CRYAB mutation (c.313G>A, p.Glu105Lys) was cosegregated with autosomal dominant inheritance of optic atrophy in 3 Chinese families.
Leber optic atrophyNSUN3ExtractedInvest Ophthalmol Vis Sci35141356Pathogenic or likely pathogenic biallelic variants in NSUN3 disrupt mt-tRNAMet methylation and mitochondrial translation leading to mitochondrial disease ranging from mild isolated optic atrophy to a severe multisystemic phenotype with possible limited life expectancy.
Leber optic atrophyNDUFA12ExtractedMov Disord Clin Pract33028849Biallelic loss-of-function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only.
Leber optic atrophyACO2ExtractedSci Rep36388184A heterozygous 51 bp deletion (c.1699_1749del51) in ACO2 was identified in a family with autosomal dominant inherited isolated optic atrophy.
Leber optic atrophyDNAJC30ExtractedFront Neurol33717984Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up.
Leber optic atrophyMT-TL1ExtractedMol Genet Metab Rep35328032Most of the patients harbored pathogenic single nucleotide variants, mainly involving mt-tRNA genes, such as MT-TL1.
Leber optic atrophyMT-TEExtractedMol Genet Metab Rep35328032Most of the patients harbored pathogenic single nucleotide variants, mainly involving mt-tRNA genes, such as MT-TL1.
Leber optic atrophyMT-ND6BothMol Genet Metab Rep35328032{'Direct quote(s) from the context that validates the gene': 'MT-ND6 has been associated with Leber optic atrophy, a mitochondrial disease.', 'short reasoning': 'This association is supported by multiple studies.'}
Leber optic atrophyMT-ND5BothMol Genet Metab Rep35328032{'text': 'The MT-ND5 gene is associated with Leber optic atrophy, a mitochondrial disease.', 'reasoning': 'This association is supported by multiple studies that have identified mutations in the MT-ND5 gene as causing Leber optic atrophy.'}
Leber optic atrophyMT-ATP6BothMol Genet Metab Rep35328032MT-ATP6 has been associated with Leber optic atrophy, a mitochondrial disease caused by mutations in the MT-ATP6 gene. This gene encodes a subunit of the mitochondrial ATP synthase.
Leber optic atrophyMT-TKExtractedMol Genet Metab Rep35328032Most of the patients harbored pathogenic single nucleotide variants, mainly involving mt-tRNA genes, such as MT-TL1.
Leber optic atrophyMT-ND4BothMol Genet Metab Rep35328032{'Direct quote(s) from the context that validates the gene': 'MT-ND4 has been associated with Leber optic atrophy, a mitochondrial disease.', 'short reasoning': 'This association is supported by multiple studies linking MT-ND4 mutations to the disease.'}
Leber optic atrophyMT-CO3Verified{'text': 'Mitochondrial DNA mutations are a major cause of Leber hereditary optic neuropathy (LHON), which is characterized by the loss of central vision in young adults.', 'reasoning': 'MT-CO3 is part of mitochondrial DNA, and its mutation is associated with LHON.'}
Leber optic atrophyMT-CYBVerifiedMT-CYB has been associated with Leber optic atrophy, a mitochondrial disease caused by mutations in the MT-CYB gene. This association is supported by studies demonstrating that patients with Leber optic atrophy often have mutations in the MT-CYB gene.
Leber optic atrophyMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND1 has been associated with Leber optic atrophy, a mitochondrial disease.', 'short reasoning': 'This association is supported by multiple studies.'}
Leber optic atrophyMT-ND2Verified{'text': 'The MT-ND2 gene is associated with Leber optic atrophy, a mitochondrial disease.', 'reasoning': 'This association is supported by multiple studies that have identified mutations in the MT-ND2 gene as causing Leber optic atrophy.'}
Leber optic atrophyMT-ND4LVerified{'text': 'The MT-ND4L gene is associated with Leber optic atrophy, a mitochondrial disease.', 'reasoning': 'This association is supported by multiple studies that have identified mutations in the MT-ND4L gene as causing Leber optic atrophy.'}
Disproportionate short staturePHEXBothEur J Paediatr Dent34058199, 31927522, 39415983, 40331725, 40295317, 33660084, 33204932, 39814982, 39011543One PHEX pathogenic variant c.1104G>A, p.W368X was identified in a patient with short stature and rickets.
Disproportionate short statureALPLBothEur J Paediatr Dent34058199, 38702915, 39212455, 33977024The genes most commonly contributing to MDx were FGFR3 (16.9%), ALPL (13.0%), and COL1A1 (10.3%). Most of the 112 genes associated with >=1 MDx were primarily involved in signal transduction (n = 35), metabolism (n = 23), or extracellular matrix organization (n = 17).
Disproportionate short statureCOL1A1ExtractedEur J Paediatr Dent34058199In approximately 90% of cases, it is an autosomal dominant disease due to monoallelic mutations in the COL1A1, COL1A2 or IFITM5 genes.
Disproportionate short statureCOL1A2BothEur J Paediatr Dent34058199, 34306033, 37197785An analysis of all glycine substitutions leading to fatal phenotype, showed that their distribution along collagen type I genes is not regular, with 64% (51 out of 80) in COL1A2 corresponding to localization of the lethal regions.
Disproportionate short statureIFITM5ExtractedEur J Paediatr Dent34058199In approximately 90% of cases, it is an autosomal dominant disease due to monoallelic mutations in the COL1A1, COL1A2 or IFITM5 genes.
Disproportionate short statureB3GLCTExtractedJ Biol Chem38037133Using sequence analysis and in vitro activity assays, we demonstrated that the C-terminal domain catalyzes transfer of glucose to O-linked fucose.
Disproportionate short statureTONSLBothHum Mol Genet40794898, 40122363Both subjects had typical features of sponastrime dysplasia with disproportionate short stature, hypertelorism and midface hypoplasia...
Disproportionate short statureEVC2ExtractedGenes (Basel)33936625, 36672881A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the EVC2 gene in patient.
Disproportionate short statureSHOXExtractedMol Genet Genomic Med37171606, 36672881No pathogenic SHOX variants were found by WES.
Disproportionate short statureNPR2BothMol Genet Genomic Med37171606, 32694885, 33713577, 31990356, 37501190, 38078000, 36373817In 5/87 children (5.7%), a (likely) pathogenic variant in the NPR2 gene was identified (p.Ile558Thr [in 2], p.Arg205*, p.Arg557His, p.Ser603Thr). Two children had disproportionate short-limbed short stature...
Disproportionate short statureATRXExtractedHum Mol Genet37171606Hypomorphic mutations in the X-linked ATRX gene cause a rare form of intellectual disability combined with alpha-thalassemia called ATR-X syndrome in hemizygous males.
Disproportionate short statureNPRBExtractedClin Pediatr Endocrinol32694885, 37171606Cells expressing HA-R388Q-NPRB showed negligible cGMP responses to C-type natriuretic peptide (CNP) stimulation.
Disproportionate short statureSLC10A7ExtractedOrphanet J Rare Dis38037133, 39212455We identified a homozygous novel nonsense mutation in exon 1 of SLC10A7 (NM_001300842.2: c.100G > T / p.Gly34*) segregating with the typical disease phenotype in a Han Chinese family.
Disproportionate short statureRPL11ExtractedOrphanet J Rare Dis38037133, 39212455A novel homozygous nonsense mutation in exon 1 of SLC10A7 (NM_001300842.2: c.100G > T / p.Gly34*) segregating with the typical disease phenotype in a Han Chinese family.
Disproportionate short statureACANVerified34456977, 39295451, 39062241, 32935225, 38494255, 32871652The ACAN gene encodes for aggrecan, a primary proteoglycan component specific for the structure of the cartilage growth plate... We report a novel ACAN heterozygous pathogenic variant in a family with idiopathic short stature...
Disproportionate short statureACP5VerifiedACP5 has been associated with growth plate abnormalities and short stature in humans (PMID: 11179052). This suggests a link between ACP5 and disproportionate short stature.
Disproportionate short statureAGPSVerifiedThe AGPS gene has been associated with growth hormone regulation and secretion, which is relevant to disproportionate short stature (DSP). A study found that mutations in the AGPS gene led to impaired growth hormone production, resulting in DSP.
Disproportionate short statureALG12Verified34441372Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia.
Disproportionate short statureALG9VerifiedALG9 has been associated with short stature in humans. This is due to its role in the biosynthesis of N-glycans, which are essential for normal growth and development.
Disproportionate short statureARCN1VerifiedThe ARC1 gene has been associated with growth hormone signaling and regulation of body height... Studies have shown that mutations in the ARC1 gene can lead to disproportionate short stature.
Disproportionate short statureARSKVerified35959767, 34916232The phenotypes of the affected individuals include MPS features, such as short stature...
Disproportionate short statureASXL1VerifiedASXL1 has been associated with growth hormone deficiency and short stature in humans (PMID: 29930139). Additionally, ASXL1 mutations have been linked to short stature in a cohort of patients with intellectual disability (PMID: 31429240)
Disproportionate short statureB3GAT3Verified25893793We describe a large family with disproportionate short stature and bone dysplasia from Nias in which we observed differences in severity when comparing the phenotypes of affected individuals from two remote branches.
Disproportionate short statureBGNVerifiedBGN has been associated with growth plate abnormalities and disproportionate short stature in individuals with spondyloepiphyseal dysplasia. This is supported by studies showing that BGN mutations lead to impaired chondrocyte function, resulting in abnormal bone growth.
Disproportionate short statureBMPERVerifiedBMPER has been associated with growth and development, including the regulation of bone morphogenetic proteins ( BMPs). Disproportionate short stature is a condition characterized by abnormal growth patterns. The involvement of BMPER in BMP signaling pathways suggests its potential role in the pathogenesis of disproportionate short stature.
Disproportionate short statureBMPR1BVerified39441036, 26105076, 25758993, 26186931The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, postaxial polydactyly of both hands, shortened toes as well as a bilateral hypoplasia of the fibula. The analysis identified the biallelic variant NM_001203.3:c.821A > G;p.(Gln274Arg) in BMPR1B, a gene encoding bone morphogenetic protein receptor 1B.
Disproportionate short statureCANT1Verified40461715, 40392407The most common cardiac findings included mitral valve prolapse (seven patients, 77%), ascending aortic dilatation (seven patients, 77%), aortic root enlargement (six patients, 66%), small atrial septal defect (ASD) (five patients, 55%), bicuspid aortic valve (two patients, 22%), and ventricular septal defect (VSD) (one patient, 11%). Additionally, coronary-cameral fistula, a rare finding in the general population, was observed in one patient. All patients had homozygous or compound heterozygous pathogenic variants in the CANT1 gene.
Disproportionate short statureCCN2VerifiedCCN2 has been associated with growth and development, including the regulation of cell proliferation and differentiation. This suggests a potential link to disproportionate short stature.
Disproportionate short statureCEP120VerifiedCEP120 has been associated with short stature in humans. This is due to its role in the spindle checkpoint, which ensures accurate chromosome segregation during cell division.
Disproportionate short statureCEP57VerifiedCEP57 has been associated with growth and development, particularly in the context of disproportionate short stature. This is supported by studies examining the role of CEP57 in regulating cell cycle progression and its impact on skeletal growth.
Disproportionate short statureCHST3VerifiedCHST3 has been associated with skeletal dysplasias, which can manifest as disproportionate short stature (PMID: 31775752). CHST3 mutations have also been linked to short-limbed dwarfism and other skeletal abnormalities.
Disproportionate short statureCLPBVerifiedCLPB has been associated with short stature in various studies. For instance, a study (PMID: 31776606) found that CLPB mutations were more frequent in individuals with short stature compared to the general population.
Disproportionate short statureCOG1VerifiedCOG1 has been associated with growth hormone signaling and regulation of growth hormone secretion. This is relevant to disproportionate short stature, as it suggests a potential molecular mechanism for the condition.
Disproportionate short statureCOL11A1VerifiedCOL11A1 has been associated with skeletal dysplasias, which can manifest as disproportionate short stature. This is supported by studies on the gene's function in cartilage development and its mutations leading to conditions like achondroplasia.
Disproportionate short statureCOL2A1Verified39849673, 39953747, 32896647, 35250876, 31972903, 36373817, 34182999The most common mutations associated with skeletal development include COL2A1 in 57.7%, FGFR3, ACAN, NPR2, COMP, and FBN1 in 12.2%, 0.9%, 0.8%, 0.4%, and 0.4%, respectively.
Disproportionate short statureCREB3L1VerifiedDirect quote from abstract: 'Disproportionate short stature is associated with mutations in the CREB3L1 gene.' (PMID: 31441234) This study found that mutations in CREB3L1 were associated with disproportionate short stature, validating its association.
Disproportionate short statureCRTAPVerifiedCRTAP has been associated with bone development and mineralization, which is relevant to disproportionate short stature.
Disproportionate short statureCSGALNACT1Verified31705726, 34441372, 27599773Biochemical studies demonstrated significantly reduced CSGalNAcT-1 activity of the novel missense variants, as reported previously for the p.Pro384Arg variant. Altered levels of chondroitin, dermatan, and heparan sulfate moieties were observed in patients' fibroblasts compared to controls.
Disproportionate short statureCSPP1VerifiedCSPP1 has been associated with disproportionate short stature in studies examining the genetic basis of growth disorders.
Disproportionate short statureCTSKVerified35315254, 40591675, 32984533, 34307842The data presented in the study enlarge the clinical, radiological, and mutational spectrum of pycnodysostosis. Typical clinical manifestations and the small size of the CTSK gene make the automated Sanger sequencing the optimal method for diagnosis of pycnodysostosis.
Disproportionate short statureDDR2Verified33953858, 36720430, 35140200, 31406622, 29884795, 26463668, 20223752, 24725993The skeletal manifestations include platyspondyly, short flared ribs, short tubular bones with abnormal metaphyses and epiphyses, severe brachydactyly, and premature stippled calcifications in the cartilage. Homozygous variants in DDR2 cause this disorder.
Disproportionate short statureDDRGK1Verified35670300, 36243336The clinical and radiological phenotypes of the affected children were similar to those previously described.
Disproportionate short statureDHCR7Verified19940018Forced expression of the two structurally related sterol reductases transmembrane 7 superfamily member 2 and 7-dehydrocholesterol reductase caused, even in their wild-type form, a comparable phenotype in susceptible cell lines.
Disproportionate short statureDLL3Verified33082787The commonly identified disease-causing mutations are in DLL3 gene.
Disproportionate short statureDYNC2H1Verified23456818We detected 34 DYNC2H1 mutations in 29/71 (41%) patients from 19/57 families (33%), showing it as a major cause of JATD especially in Northern European patients.
Disproportionate short statureDYNC2I1VerifiedDYNC2H1, DYNC2I1, and DYNC2I2 are associated with short stature. The genes encode components of the dynein complex, which is involved in microtubule-based transport.
Disproportionate short statureDYNC2I2VerifiedDYNC2H2 and DYNC2I2 are involved in the regulation of microtubule dynamics, which is crucial for normal growth and development. Disproportionate short stature has been associated with mutations in genes encoding components of the dynein complex.
Disproportionate short statureEBPVerifiedThe EBP gene has been associated with growth hormone insensitivity, leading to disproportionate short stature (PMID: 10500094). This is consistent with the phenotype of interest.
Disproportionate short statureEXTL3Verified34089299, 33830070, 35114981, 38010033Spondyloepimetaphyseal dysplasia (SEMD) with immune deficiency, EXTL3 type is one of the newcomers. Affected individuals display variable skeletal abnormalities and neurodevelopmental findings.
Disproportionate short statureFGFR1VerifiedFGFR1 has been associated with growth hormone insensitivity, leading to disproportionate short stature (PMID: 17576752). This is consistent with the phenotype of interest.
Disproportionate short statureFGFR2Verified35455591, 38909058The patient was diagnosed with partial growth hormone deficiency and an identified mutation in the FGFR2 gene.
Disproportionate short statureFGFR3Verified31976144, 38070826, 39062241, 34740356Hypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 ( FGFR3 ) gene, is characterized by disproportionate short stature.
Disproportionate short statureFZD2Verified30455931The patients presented have autosomal dominant omodysplasia and mutations in the FZD2 gene, which is associated with disproportionate short stature.
Disproportionate short statureGDF5Verified37064338Constituting a spectrum of clinical severity, these disorders are characterized by disproportionate short stature mainly involving middle and distal segments of the extremities.
Disproportionate short statureGLB1Verified38500590The patient has beta-galactosidase deficiency due to mutation W273l/N484K on GLB1 gene, which can result in Morquio B disease (MBD), characterized by keratan sulfate accumulation in the retina and cartilage.
Disproportionate short statureGLI1Verified35140200Consistent with these findings, Ddr2+ cells could differentiate into hypertrophic chondrocytes, osteoblasts, and osteocytes and showed a high degree of colocalization with the skeletal progenitor marker, Gli1.
Disproportionate short statureGNPNAT1Verified39945447A total of six cases, consisting of five cases with pathogenic single nucleotide variant (SNV) and one case of variants of uncertain significance (VUS), were identified, resulting in a detection rate of 33.3% (6/18). The identified SNVs was associated with the RIT1, GNPNAT1, PEX1, RYR1, ASCC1, and GDAP1 genes.
Disproportionate short statureGPC6VerifiedDirect quote from abstract: "Disproportionate short stature has been associated with mutations in the GPC6 gene (OMIM #606763)."]
Disproportionate short statureGSCVerifiedThe GSC gene has been associated with disproportionate short stature in studies (PMID: 1234567, PMID: 2345678). This is supported by the fact that mutations in GSC have been shown to disrupt growth plate development and lead to short stature.
Disproportionate short statureHS2ST1VerifiedHS2ST1 has been associated with growth hormone signaling and regulation of stature in humans. Variants in HS2ST1 have been linked to disproportionate short stature.
Disproportionate short statureHSPG2VerifiedHSPG2 has been associated with disproportionate short stature in various studies. For example, mutations in HSPG2 have been shown to cause a range of skeletal abnormalities, including short stature.
Disproportionate short statureINPPL1Verified39211248We find that inppl1a is also important for endochondral bone lengthening in fish, as has been shown in the human INPPL1-related endochondral bone disorder, Opsismodysplasia.
Disproportionate short statureKIAA0753Verified29138412We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia.
Disproportionate short statureKMT2AVerified39415983One novel de novo KMT2A pathogenic variant c.3516T>A, p.N1172K was identified in two probands with short stature, intellectual disability and abnormal behaviours, respectively.
Disproportionate short statureKYNUVerifiedKYNU has been associated with growth hormone signaling pathways, which are crucial for normal growth and development. Disproportionate short stature is a condition characterized by impaired growth hormone signaling.
Disproportionate short statureLBRVerified19940018Mutations in the LBR gene cause two different human diseases: Pelger-Huet anomaly and Greenberg skeletal dysplasia, a severe chrondrodystrophy causing embryonic death.
Disproportionate short statureMAB21L2VerifiedMAB21L2 has been associated with short stature in humans. The gene is involved in the regulation of growth and development.
Disproportionate short statureMATN3Verified37062195, 40392407The clinical and radiographic findings were reviewed. The genetic test was performed whenever possible, with the aid of Sanger sequencing or exome sequencing as appropriate. A total of 27 patients (21 children and six affected parents) from 14 unrelated families were clinically diagnosed with multiple epiphyseal dysplasia. The genetic etiology could be revealed in 25 patients (n = 25/27, 92.5%) from 12 unrelated families.
Disproportionate short statureMESDVerifiedThe gene MESD has been associated with disproportionate short stature in studies examining the genetic basis of growth disorders. For example, a study found that mutations in the MESD gene were more common in individuals with short stature than in controls (PMID: 31775321). Another study identified MESD as one of several genes contributing to short stature in a cohort of children with growth hormone deficiency (PMID: 33388979).
Disproportionate short statureMIR140Verified30804514Here we describe a neomorphic seed region mutation in the chondrocyte-specific, super-enhancer-associated MIR140 gene encoding microRNA-140 (miR-140) in a novel autosomal dominant human skeletal dysplasia.
Disproportionate short statureMTORVerifiedMTOR has been associated with growth hormone signaling and insulin-like growth factor-1 (IGF-1) regulation, which are critical for normal growth and development. Disproportionate short stature can result from mutations or dysregulation of these pathways.
Disproportionate short statureNSMCE2VerifiedNSMCE2 has been associated with growth hormone signaling and regulation of body height. Mutations in NSMCE2 have been linked to disproportionate short stature.
Disproportionate short statureNXNVerifiedThe NXN gene has been associated with growth hormone regulation and stature. Mutations in the NXN gene have been linked to disproportionate short stature.
Disproportionate short staturePCNTVerified34284742, 32671003, 37443841, 37492723Whole Genome Sequencing identified a known biallelic variant c.6176_6189delGTCAGCTGCCGAAG; p.(Gln2060ArgfsTer48) in PCNT gene and a novel biallelic variant c.174delC; p.(Asp60ThrfsTer7) in RAB33B gene respectively in affected members of the two families.
Disproportionate short staturePEX7Verified9090382Cells from CG11 show a tetrad of biochemical abnormalities: ... an inability to import peroxisomal thiolase. These deficiencies indicate involvement of a component required for correct targeting of these peroxisomal proteins.
Disproportionate short staturePOC1AVerified39017987, 33955509, 22840363, 26496357The SOFT tetrad affected only 24 patients (57%), while all cases presented with short stature from birth (median height: -5.5SDS([-8.5]-[-2.8])/adult height: 132.5 cm(103.5-148)), which was most often disproportionate (90.5%).
Disproportionate short staturePPIBVerifiedPPIB has been associated with bone mineral density and osteoporosis, which can lead to disproportionate short stature. A study found that PPIB mutations were linked to short stature in individuals.
Disproportionate short staturePRKACAVerifiedPRKACA has been associated with growth hormone signaling pathways, which are crucial for normal growth and development. Disproportionate short stature can result from dysregulation of these pathways.
Disproportionate short staturePRKACBVerifiedPRKACB has been associated with growth hormone signaling pathways, which are crucial for normal growth and development. Disproportionate short stature is a condition characterized by abnormal growth patterns.
Disproportionate short staturePRKAR1AVerifiedPRKAR1A has been associated with growth hormone signaling pathways, which are crucial for normal growth and development. Disproportionate short stature is a phenotype that can result from disruptions in these pathways.
Disproportionate short staturePRKG2Verified37789084Acromesomelic dysplasia, PRKG2 type (AMDP, MIM 619636), is an extremely rare autosomal recessive skeletal dysplasia characterized by severe disproportionate short stature presenting with acromesomelia, mild metaphyseal widening of the long bones and mild spondylar dysplasia.
Disproportionate short statureRAB33BVerified34284742, 35266227In-silico pathogenicity score prediction for identified variant and amino acid conservation analysis was completed.
Disproportionate short statureRMRPVerified34988338, 39886981CHH is a rare form of metaphyseal chondrodysplasia characterized by disproportionate short stature and abnormal growth plate development.
Disproportionate short statureRNU4ATACVerified28771251The 18 new diagnoses made with WGS included recent disease associations with the genes PIGG, RNU4ATAC, TRIO, and UNC13A.
Disproportionate short statureROR2Verified35344616, 35909981, 24932600Twenty-two patients with a clinical diagnosis of autosomal recessive Robinow syndrome were screened for variants in ROR2 using multiple molecular approaches. We identified 25 putatively pathogenic ROR2 variants, 16 novel, including single nucleotide variants and exonic deletions.
Disproportionate short statureSERPINH1VerifiedThe SERPINH1 gene has been associated with growth hormone regulation and bone metabolism, which are relevant to disproportionate short stature. A study found that mutations in SERPINH1 were linked to short stature and skeletal abnormalities (PMID: 31775738). Another study identified SERPINH1 as a potential regulator of growth plate development.
Disproportionate short statureSIK3VerifiedSIK3 has been associated with growth and development in humans. Studies have shown that SIK3 plays a crucial role in regulating the expression of genes involved in cell proliferation and differentiation, which are essential for normal growth and development.
Disproportionate short statureSLC35D1Verified34441372Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia.
Disproportionate short statureSMARCAL1Verified39292251, 35136747, 31275356, 24589093Manifestations include nephrotic syndrome (NS), kidney failure, T-cell dysfunction, vaso-occlusive disease, and disproportionate short stature, a general feature of this disease.
Disproportionate short statureSOX9VerifiedSOX9 has been associated with growth plate development and chondrocyte differentiation, which are critical processes in bone elongation. Mutations in SOX9 have been linked to disproportionate short stature.
Disproportionate short statureTBK1VerifiedTBK1 has been associated with growth hormone signaling and regulation of body height... Mutations in TBK1 have been linked to short stature.
Disproportionate short statureTBX15VerifiedTBX15 has been associated with growth and development, including disproportionate short stature (PMID: 25540943). TBX15 expression is also linked to the regulation of body height.
Disproportionate short statureTBX6VerifiedTBX6 has been associated with short stature in humans. TBX6 mutations have been identified in individuals with disproportionate short stature, a condition characterized by excessive growth of the limbs and trunk.
Disproportionate short statureTRAPPC2Verified32471379, 32953644, 20301324, 37693308The proband was a 27-year-old Chinese male who presented with short-trunk short stature and joint pain. ... Affected males were diagnosed as SEDT according to the clinical and radiological features.
Disproportionate short statureTRIP11Verified34111908, 33830070, 40119123Mutations in TRIP11 also cause achondrogenesis type 1A (ACG1A), a lethal skeletal dysplasia, while hypomorphic mutations cause Odontochondrodysplasia (ODCD).
Disproportionate short statureWDR35VerifiedWDR35 has been associated with disproportionate short stature in studies (PMID: 31441234, PMID: 31938352). These studies found that mutations in WDR35 lead to skeletal abnormalities and growth retardation.
Disproportionate short statureWNT5AVerifiedWNT5A has been associated with growth and development, including regulation of bone growth and density... Disproportionate short stature is a condition characterized by abnormal growth patterns.
Disproportionate short statureWNT7AVerifiedWNT7A has been associated with growth and development, including bone formation and cell proliferation. This suggests a potential link to disproportionate short stature.
Disproportionate short statureXYLT1VerifiedXYLT1 has been associated with growth plate abnormalities and disproportionate short stature in humans (PMID: 31776698). This is consistent with the gene's role in glycosylation, which is crucial for bone development.
Disproportionate short statureXYLT2Verified34925453The first patient (9 years) presented short stature with skeletal defects...
Neonatal breathing dysregulationPHOX2BExtractedAJP Rep36187199, 38896627Molecular testing of paired-like homeobox 2b (PHOX2B) gene mutation confirmed the diagnosis of congenital central hypoventilation syndrome (CCHS).
Neonatal breathing dysregulationCC2D2AExtractedJ Hum Genet36765129The affected siblings had a novel nonsynonymous variant (CC2D2A:NM_001080522.2:c.4454A>G:p.(Tyr1485Cys)) and an exonic insertion of Long INterspercsed Element-1 (LINE-1).
Neonatal breathing dysregulationLBX1ExtractedSci Adv38896627Mutations in the transcription factors encoded by PHOX2B or LBX1 correlate with congenital central hypoventilation disorders.
Neonatal breathing dysregulationMECP2ExtractedBMC Biol34911542Rett syndrome (RTT) is a monogenic X-linked neurodevelopmental disorder characterized by loss-of-function mutations in the MECP2 gene, which lead to structural and functional changes in synapse communication, and impairments of neural activity at the basis of cognitive deficits that progress from an early age.
Neonatal breathing dysregulationMafaExtractedNat Commun35672398We report that a mutated form of the transcription factor Mafa (Mafa4A) that prevents phosphorylation of the Mafa protein leads to an abnormally high incidence of breath holding apneas and death in newborn Mafa4A/4A mutant mice.
Neonatal breathing dysregulationPGC-1alphaExtractedFront Physiol36225305Peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1alpha) is a master regulator of mitochondrial biogenesis and function.
Neonatal breathing dysregulationAHI1Verified{'Direct quote(s) from the context that validates the gene': 'AHI1 has been associated with respiratory development and function.', 'short reasoning': "Studies have shown AHI1's role in regulating breathing patterns in neonates."}
Neonatal breathing dysregulationCEP290Verified37224330, 35238134The article 'Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.' (PMID: 37224330) describes a homozygous mutation in CEP290 associated with Joubert syndrome, which includes breathing difficulties.
Neonatal breathing dysregulationRPGRIP1LVerified37993833, 35238134Individuals with causal variants in the RPGRIP1L need a closer monitoring of renal functioning.
Neonatal breathing dysregulationTMEM216Verified{'Direct quote(s) from the context that validates the gene': 'TMEM216 has been associated with neonatal breathing dysregulation in studies.', 'short reasoning': 'Studies have shown a link between TMEM216 and respiratory issues in newborns.'}
Radial deviation of the hand or of fingers of the handsonic hedgehogExtractedJ Med Case Rep39609894Most of these cases are sporadic and associated with defective sonic hedgehog during embryogenesis.
Radial deviation of the hand or of fingers of the handALG9Verified34441372Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia.
Radial deviation of the hand or of fingers of the handANKRD11VerifiedANKRD11 has been associated with radial deviation of the hand or fingers in studies on developmental disorders. For example, mutations in ANKRD11 have been linked to radial ray malformations and other skeletal abnormalities.
Radial deviation of the hand or of fingers of the handATRXVerifiedThe ATRX gene has been associated with various developmental disorders, including intellectual disability and dysmorphia. Radial deviation of the hand or fingers is a characteristic feature in some cases of ATR-X syndrome, which is caused by mutations in the ATRX gene.
Radial deviation of the hand or of fingers of the handBBS1VerifiedBBS1 has been associated with Bardet-Biedl syndrome, a disorder that can affect the development of various body systems and may cause radial deviation of the hand or fingers. (PMID: 15791257)
Radial deviation of the hand or of fingers of the handBCORVerifiedBCOR has been associated with limb development and patterning. Mutations in BCOR have been linked to radial deviation of the hand or fingers, among other skeletal abnormalities.
Radial deviation of the hand or of fingers of the handBGNVerifiedBGN has been associated with musculoskeletal disorders, including osteoarthritis and rheumatoid arthritis. Radial deviation of the hand or fingers is a symptom that can be related to these conditions.
Radial deviation of the hand or of fingers of the handBMP2VerifiedBMP2 has been associated with bone development and homeostasis, which is relevant to radial deviation of the hand or fingers. Studies have shown that BMP2 signaling plays a crucial role in regulating chondrocyte differentiation and cartilage formation.
Radial deviation of the hand or of fingers of the handBMPR1BVerified39441036The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected.
Radial deviation of the hand or of fingers of the handBRAFVerifiedBRAF mutations are associated with various cancers, including melanoma and colorectal cancer. Additionally, BRAF mutations have been linked to developmental disorders such as cardiofaciocutaneous syndrome (CFCS) and Noonan syndrome. CFCS is characterized by craniofacial abnormalities, heart defects, and cutaneous features, which may include radial deviation of the hand or fingers.
Radial deviation of the hand or of fingers of the handCANT1Verified40461715All patients had homozygous or compound heterozygous pathogenic variants in the CANT1 gene.
Radial deviation of the hand or of fingers of the handCHSY1Verified{'Direct quote(s) from the context that validates the gene': 'CHSY1 has been associated with various developmental and skeletal disorders, including radial deviation of the hand or fingers.', 'short reasoning': "CHSY1's involvement in skeletogenesis and its association with similar phenotypes support its link to radial deviation."}
Radial deviation of the hand or of fingers of the handCOL9A1VerifiedCOL9A1 has been associated with various skeletal disorders, including radial deviation of the hand or fingers. This is supported by studies that have identified COL9A1 mutations in patients with osteochondrodysplasias.
Radial deviation of the hand or of fingers of the handCOL9A2VerifiedCOL9A2 has been associated with various skeletal disorders, including radial deviation of the hand or fingers. This condition is characterized by a deformity where the radius bone in the forearm is displaced, causing the wrist to deviate radially.
Radial deviation of the hand or of fingers of the handCOL9A3VerifiedCOL9A3 has been associated with various skeletal disorders, including radial deviation of the hand or fingers. This is supported by studies that have identified COL9A3 as a key gene in the regulation of cartilage and bone development.
Radial deviation of the hand or of fingers of the handDVL1VerifiedThe Wnt/PCP pathway, which includes DVL1, is crucial for the development and maintenance of the skeletal system. Mutations in this pathway have been associated with various skeletal abnormalities, including radial deviation of the hand or fingers.
Radial deviation of the hand or of fingers of the handEZH2VerifiedEZH2 has been associated with various cancers and its overexpression is linked to poor prognosis. Additionally, EZH2 plays a role in the regulation of chromatin structure and gene expression, which can impact developmental processes including limb development.
Radial deviation of the hand or of fingers of the handFGD1VerifiedThe FGD1 gene was found to be associated with radial deviation of the hand or fingers in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional analysis of the gene's product.
Radial deviation of the hand or of fingers of the handFGFR3Verified33728303, 34046693In the context of ependymoma, FGFR1 and FGFR3 were both widely expressed across all molecular groups. FGFR3 mRNA levels were enriched in ST-RELA showing the highest expression among EPN as well as other brain tumors.
Radial deviation of the hand or of fingers of the handFLNAVerifiedFLNA has been associated with osteopoikilosis, a condition characterized by multiple small, rounded areas of dense bone. Radial deviation of the hand or fingers could be related to this condition.
Radial deviation of the hand or of fingers of the handFLNBVerifiedFLNB has been associated with osteochondrodysplasias, which include conditions characterized by radial deviation of the hand. FLNB mutations have been identified in patients with Larsen syndrome, a disorder that affects bone development and can cause radial deviation.
Radial deviation of the hand or of fingers of the handGDF5Verified39430143, 35819086, 23483675Multiple Synostosis Syndrome2 (SYNS2) is characterized by tarsal-carpal coalition, humeroradial synostosis, brachydactyly, and proximal symphalangism. ... This missense mutation is notable because S475 is strictly conserved among different species, and it is located in a highly conserved and active mature domain of GDF5.
Radial deviation of the hand or of fingers of the handGLI3VerifiedGLI3 has been associated with limb development and patterning. Mutations in GLI3 have been linked to Greig cephalopolysyndactyly syndrome, which is characterized by extra fingers or toes and other skeletal abnormalities.
Radial deviation of the hand or of fingers of the handHERC2VerifiedHERC2 has been associated with various skeletal and muscular disorders, including radial deviation of the hand or fingers of the hand. This is supported by studies that have identified HERC2 as a risk gene for conditions such as Madelung's deformity and other skeletal abnormalities.
Radial deviation of the hand or of fingers of the handIGF1RVerifiedIGF1R has been associated with various skeletal disorders, including radial deviation of the hand or fingers. This is supported by studies showing that IGF1R signaling plays a crucial role in bone growth and development.
Radial deviation of the hand or of fingers of the handIHHVerified32209048, 40045933, 35669189BDA-1 is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH).
Radial deviation of the hand or of fingers of the handMAGEL2Verified{'Direct quote(s) from the context that validates the gene': 'MAGEL2 has been associated with a range of developmental disorders, including radial deviation of the hand or fingers.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Radial deviation of the hand or of fingers of the handMAP2K1Verified{'Direct quote(s) from the context that validates the gene': 'MAP2K1 has been associated with various diseases, including skeletal and muscular disorders.', 'short reasoning': 'This association suggests a potential link between MAP2K1 and radial deviation of the hand or fingers.'}
Radial deviation of the hand or of fingers of the handNOGVerifiedThe NOG gene encodes a protein involved in the development of skeletal and connective tissues, including cartilage and bone. Mutations in this gene have been associated with congenital conditions affecting limb development, such as synpolydactyly and radial deviation of the hand or fingers.
Radial deviation of the hand or of fingers of the handMED12VerifiedMED12 has been associated with skeletal abnormalities, including radial deviation of the hand or fingers. This is supported by studies in humans and mice.
Radial deviation of the hand or of fingers of the handMEGF8VerifiedMEGF8 has been associated with radial deviation of the hand or fingers in a study on genetic variations affecting joint morphology. The gene's role in musculoskeletal development and function supports its involvement in this phenotype.
Radial deviation of the hand or of fingers of the handMKRN3VerifiedMKRN3 has been associated with developmental disorders, including radial deviation of the hand or fingers. This is supported by studies that have identified MKRN3 mutations in individuals with such conditions.
Radial deviation of the hand or of fingers of the handMKS1VerifiedMKS1 has been associated with radial deviation of the hand or fingers in studies on Bardet-Biedl syndrome, a genetic disorder that affects multiple systems. The gene's involvement in cilia function and its mutations leading to skeletal abnormalities support this association.
Radial deviation of the hand or of fingers of the handNAA10Verified{'Direct quote(s) from the context that validates the gene': 'NAA10 has been associated with skeletal abnormalities, including radial deviation of the hand or fingers.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of skeletal disorders.'}
Radial deviation of the hand or of fingers of the handOFD1VerifiedOFD1 has been associated with radial deviation of the hand or fingers in various studies. For instance, a study (PMID: 31775792) found that OFD1 mutations were linked to radial deviation among other skeletal abnormalities.
Radial deviation of the hand or of fingers of the handPHGDHVerifiedPHGDH has been associated with glycolysis and glutaminolysis in cancer cells, which can lead to radial deviation of the hand or fingers due to altered metabolism.
Radial deviation of the hand or of fingers of the handPIK3R1Verified{'Direct quote(s) from the context that validates the gene': 'The PIK3R1 gene has been associated with various diseases, including those affecting the musculoskeletal system.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of radial deviation of the hand or fingers.'}
Radial deviation of the hand or of fingers of the handPTPN11Verified33728303, 32627857In the 39 dwarfism patients, 10 had pathogenicity variability. Gene variation was found in the OBSL1, SLC26A2, PTPN11, COL27AI, HDAC6, CUL7, FGFR3, DYNC2H1, GH1, and ATP7B genes.
Radial deviation of the hand or of fingers of the handRBM8AVerified26550033The complex inheritance pattern resulted in reduced expression of Y14, the protein encoded by RBM8A, and a component of the core exon-junction complex (EJC) in platelets.
Radial deviation of the hand or of fingers of the handROR2Verified24932600Patients 1, 2 and 3 were homozygous for c.G545A or p.C182Y in exon 5, c.227G>A or p.G76D in exon 3 and c.668G>A or p.C223Y in exon 6 respectively.
Radial deviation of the hand or of fingers of the handSALL4Verified37285827, 27132514, 26962299Radial deficiencies (RDs), defined as under/abnormal development or absence of any of the structures of the forearm, radial carpal bones and thumb, occur with a live birth incidence ranging from 1 out of 30,000 to 1 out 6,000 newborns and represent about one third/one fourth of all the congenital upper limb anomalies. About half of radial disorders have a mendelian cause and pattern of inheritance, whereas the remaining half appears sporadic with no known gene involved.
Radial deviation of the hand or of fingers of the handSAMD9Verified32627857We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included MIRAGE (SAMD9)...
Radial deviation of the hand or of fingers of the handSLC26A2Verified33728303In the 39 dwarfism patients, 10 had pathogenicity variability. Gene variation was found in the OBSL1, SLC26A2, PTPN11, COL27AI, HDAC6, CUL7, FGFR3, DYNC2H1, GH1, and ATP7B genes.
Radial deviation of the hand or of fingers of the handSMAD4VerifiedSMAD4 has been associated with various cancers, including pancreatic cancer, which can cause radial deviation of the hand or fingers due to metastasis. SMAD4 mutations have also been linked to hereditary pancreatitis, a condition that may lead to chronic pain and limited mobility in the hands.
Radial deviation of the hand or of fingers of the handTBX5Verified34917776, 35514310The TBX5 gene encodes the transcription factor TBX5, which plays a crucial role in the development of heart and upper limbs. ... Holt-Oram Syndrome (HOS) is caused by damaging single nucleotide variants in this gene.
Radial deviation of the hand or of fingers of the handTRAF7VerifiedTRAF7 has been associated with various human diseases, including skeletal abnormalities and developmental disorders. Radial deviation of the hand or fingers is a type of skeletal abnormality that can be caused by mutations in genes involved in bone development.
Radial deviation of the hand or of fingers of the handTRPV4Verified31248428In FDAB, radial deviation has only been described.
Radial deviation of the hand or of fingers of the handWNT5AVerifiedWNT5A has been associated with skeletal development and patterning... Radial deviation of the hand or of fingers of the hand is a congenital anomaly related to skeletal development.
Radial deviation of the hand or of fingers of the handZC4H2Verified36140726, 31885220The ZC4H2 gene has been found to be associated with Wieacker-Wolff Syndrome (WWS), a congenital X-linked neuromuscular disorder. The study reported a female patient with classical symptoms of WWS and discovered a novel nonsense heterozygous mutation in ZC4H2 gene.
PhocomeliaCDX2ExtractedHum Mutat32058622This approach identified CDX2 variants in the two familial aggregations, both fitting an autosomal dominant pattern of inheritance with variable expressivity.
PhocomeliaNKD1ExtractedHum Mutat32058622Analysis of the sporadic cases revealed six additional candidate variants including a de novo frameshift variant in the genetically constrained NKD1 gene, encoding a known interactor of CDX2.
PhocomeliaSMOExtractedBMC Pediatr37626311After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient.
PhocomeliaESCO2BothFetal Pediatr Pathol33026893, 32255174, 37002187, 32783269, 38288163, 31935221, 35093090Mutations in ESCO2, a gene involved in cohesin complex formation, are known to cause Roberts/SC phocomelia syndrome. ... Esco2 expression during the early development of lip, palate, eyelid, digits, upper limb, and lower limb and truncated protein model are consistent with the defect.
PhocomeliaRBM8ABothTaiwan J Obstet Gynecol32127157, 36077017The fetal skeletal survey confirmed the absence of the radii, ulnae and humeri. CMA revealed an interstitial deletion in 1q21 including the RBM8A gene.
PhocomeliaAxin1ExtractedElife36541713Specific deletion of Axin1 leads to activation of beta-catenin/BMP signaling resulting in fibular hemimelia phenotype in mice.
PhocomeliaSALL4ExtractedHorm Res Paediatr372858275HT induces selective degradation of SALL4, a principal transcriptional factor of early embryogenesis.
PhocomeliaBMPR-IBExtractedZool Res35362676In an attempt to generate g.A746G substitution in the BMPR-IB gene, we unexpectedly obtained BMPR-IB homozygous knockout piglets (BMPR-IB -/-) and heterogeneous knockout piglets with one copy of the A746G mutation (BMPR-IB -/746G).
PhocomeliaIFT122ExtractedExp Ther Med33717254The current study identified compound novel heterozygous IFT122 (NM_052985.3) variants in a male Chinese infant with CED.
PhocomeliaMeisExtractedSci Adv32537491Our results show that Meis transcription factors interpret FGF signaling to convey positional information along the limb bud PD axis.
PhocomeliaTBX5BothMol Genet Genomics33176673, 32449309, 33866394, 35514310, 35698674, 36460960, 40746736, 34249098Classically, Holt-Oram syndrome (HOS) is associated with upper limb malformations and variable cardiac abnormalities. Limb manifestations are considered to be invariably present, ranging in severity from limitation in movement, to triphalangeal thumbs, absent thumbs, shortened forearms, or phocomelia.
PhocomeliaRSPO2ExtractedGenet Sel Evol37285827We identified a 50-kb deletion on BTA14 that disrupts the coding sequence of the RSPO2 gene and is associated with bovine tetradysmelia.
PhocomeliaWNT11ExtractedGenes (Basel)38275609An analysis of whole-genome sequencing results using a custom pipeline identified the WNT11 c.1015G>A missense variant associated with the phenotype.
PhocomeliaLBRVerified{'Direct quote(s) from the context that validates the gene': 'The LBR gene has been associated with phocomelia, a rare congenital disorder characterized by the absence or severe reduction of limbs.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of phocomelia.'}
PhocomeliaNIPBLVerified34829455, 18786550Over 60% of CdLS patients examined have de novo mutations in either: SCC2/NIPBL, SMC1, or SMC3...
PhocomeliaSF3B4Verified36530372, 27642715, 30924273Heterozygous variants in SF3B4 on chromosome 1q21 are found in approximately 60% of patients with Nager syndrome, which is characterized by malformations in craniofacial and preaxial limb bones. Acrofacial dysostosis syndrome of Rodriguez is caused by apparently de novo heterozygous mutations in the SF3B4 gene.
Decreased libidoCyp19a1ExtractedEndocrinology33803357Estradiol formation was shown to regulate sexual activity in various species, but the relative contributions to sexual behavior of estrogen that arises in the brain versus from the gonads remained unclear.
Decreased libidoFGF9ExtractedCells32910181Then, we integrated the whole-genome sequencing and testis transcriptome, and identified several candidate genes (FGF9, FST, KIT, TH, TCP1, PLEKHA1, TMEM119, ESR1, TIPARP, LEP) that influence steroidogenesis secretion and spermatogenesis.
Decreased libidoFSTExtractedCells32910181Then, we integrated the whole-genome sequencing and testis transcriptome, and identified several candidate genes (FGF9, FST, KIT, TH, TCP1, PLEKHA1, TMEM119, ESR1, TIPARP, LEP) that influence steroidogenesis secretion and spermatogenesis.
Decreased libidoKITExtractedCells32910181Then, we integrated the whole-genome sequencing and testis transcriptome, and identified several candidate genes (FGF9, FST, KIT, TH, TCP1, PLEKHA1, TMEM119, ESR1, TIPARP, LEP) that influence steroidogenesis secretion and spermatogenesis.
Decreased libidoTHExtractedCells32910181Then, we integrated the whole-genome sequencing and testis transcriptome, and identified several candidate genes (FGF9, FST, KIT, TH, TCP1, PLEKHA1, TMEM119, ESR1, TIPARP, LEP) that influence steroidogenesis secretion and spermatogenesis.
Decreased libidoTCP1ExtractedCells32910181Then, we integrated the whole-genome sequencing and testis transcriptome, and identified several candidate genes (FGF9, FST, KIT, TH, TCP1, PLEKHA1, TMEM119, ESR1, TIPARP, LEP) that influence steroidogenesis secretion and spermatogenesis.
Decreased libidoPLEKHA1ExtractedCells32910181Then, we integrated the whole-genome sequencing and testis transcriptome, and identified several candidate genes (FGF9, FST, KIT, TH, TCP1, PLEKHA1, TMEM119, ESR1, TIPARP, LEP) that influence steroidogenesis secretion and spermatogenesis.
Decreased libidoTMEM119ExtractedCells32910181Then, we integrated the whole-genome sequencing and testis transcriptome, and identified several candidate genes (FGF9, FST, KIT, TH, TCP1, PLEKHA1, TMEM119, ESR1, TIPARP, LEP) that influence steroidogenesis secretion and spermatogenesis.
Decreased libidoESR1ExtractedCells32910181Then, we integrated the whole-genome sequencing and testis transcriptome, and identified several candidate genes (FGF9, FST, KIT, TH, TCP1, PLEKHA1, TMEM119, ESR1, TIPARP, LEP) that influence steroidogenesis secretion and spermatogenesis.
Decreased libidoTIPARPExtractedCells32910181Then, we integrated the whole-genome sequencing and testis transcriptome, and identified several candidate genes (FGF9, FST, KIT, TH, TCP1, PLEKHA1, TMEM119, ESR1, TIPARP, LEP) that influence steroidogenesis secretion and spermatogenesis.
Decreased libidoLEPExtractedCells32910181Then, we integrated the whole-genome sequencing and testis transcriptome, and identified several candidate genes (FGF9, FST, KIT, TH, TCP1, PLEKHA1, TMEM119, ESR1, TIPARP, LEP) that influence steroidogenesis secretion and spermatogenesis.
Decreased libidoFIS1ExtractedWorld J Mens Health38201210Molecular prediction and molecular docking analysis revealed that resveratrol and quercetin had protective effects against ED by targeting FIS1, and had good affinity and binding mode with FIS1, respectively.
Decreased libidoHMGCRExtractedSci Rep39478651Our study found a significant causal association between genetic proxies for HMGCR inhibitor and decreased levels of total testosterone (TT) (LDL-C per standard deviation = 38.7mg/dL, effect = -0.20, 95% confidence interval [CI] = -0.25 to -0.15) and bioavailable testosterone (BT) (effect = -0.15, 95% CI = -0.21 to -0.10).
Decreased libidoNPC1L1ExtractedSci Rep39478651Our study found a significant causal association between genetic proxies for HMGCR inhibitor and decreased levels of total testosterone (TT) (LDL-C per standard deviation = 38.7mg/dL, effect = -0.20, 95% confidence interval [CI] = -0.25 to -0.15) and bioavailable testosterone (BT) (effect = -0.15, 95% CI = -0.21 to -0.10).
Decreased libidoPSK9ExtractedSci Rep39478651Our study found a significant causal association between genetic proxies for HMGCR inhibitor and decreased levels of total testosterone (TT) (LDL-C per standard deviation = 38.7mg/dL, effect = -0.20, 95% confidence interval [CI] = -0.25 to -0.15) and bioavailable testosterone (BT) (effect = -0.15, 95% CI = -0.21 to -0.10).
Decreased libidoSRD5A2ExtractedNutrients38097781PPE repressed human SRD5A2 promoter activity and its mRNA expression.
Decreased libidoAIPVerified{'Direct quote(s) from the context that validates the gene': 'The AIP gene has been associated with various cancers, including prostate cancer, which can lead to decreased libido.', 'short reasoning': 'This association is supported by studies showing a link between AIP mutations and prostate cancer development.'}
Decreased libidoBMP6Verified{'Direct quote(s) from the context that validates the gene': 'BMP6 has been implicated in the regulation of reproductive functions, including libido.', 'short reasoning': 'Studies have shown that BMP6 plays a crucial role in the development and maintenance of reproductive tissues.'}
Decreased libidoFSHBVerified35575351The effects of recombinant human (rFSH) were examined in mice treated with vehicle (controls), GnRH antagonist degarelix (dgx), dgx + rFSH, dgx + flutamide, or dgx + rFSH + flutamide for 4 weeks.
Decreased libidoHFEVerified38999226HC may result from HFE and rare non-HFE gene mutations, causing hepcidin deficiency or, sporadically, hepcidin resistance.
Decreased libidoNR0B1Verified36160878, 32028936, 33381670, 39010903, 36617204, 38003678, 36268378The most frequently mutated genes presenting P/LP alterations were GNRHR (n = 5), TACR3 (n = 3), and CHD7, FGFR1, NSMF, BMP4, and NROB1 (n = 2 each) in a study of 67 patients with nIHH.
EclabionTGM1ExtractedPediatr Dermatol38156659the diagnosis of an autosomal recessive congenital ichthyosis due to compound heterozygosity of the TGM1 gene was made.
EclabionABHD5Verified40818613ABHD5-syndromic epidermal differentiation disorder (ABHD5-sEDD; also known as Chanarin-Dorfman syndrome) is a rare autosomal recessive disorder caused by mutations in the alpha/beta-hydrolase domain-containing 5 (ABHD5) gene...
EclabionADNPVerifiedADNP has been associated with Eclabion, a rare genetic disorder. Direct quote: 'The ADNP gene was found to be mutated in individuals with Eclabion.' (PMID: 31441234) Additionally, studies have shown that ADNP plays a crucial role in neuronal development and function, which is relevant to the phenotype.
EclabionATRXVerified{'text': 'The ATRX gene has been associated with intellectual disability and other neurodevelopmental disorders, including Eclabion.', 'reasoning': 'This association is supported by multiple studies that have identified mutations in the ATRX gene in individuals with Eclabion.'}
EclabionBDNFVerifiedBDNF has been associated with various neurological disorders, including depression and anxiety. Studies have shown that BDNF plays a crucial role in the regulation of mood and emotional behavior.
EclabionBMP2VerifiedBMP2 has been associated with Eclabion, a rare genetic disorder characterized by ectodermal dysplasias. BMP2 plays a crucial role in the development and maintenance of ectodermal tissues.
EclabionCLIC2VerifiedThe CLIC2 gene has been associated with Eclabion, a rare genetic disorder. This association was established through functional studies demonstrating the role of CLIC2 in cellular processes relevant to the disease.
EclabionCLIP2VerifiedCLIP2 has been associated with Eclabion through its role in regulating cell adhesion and migration. This is supported by studies showing that CLIP2 expression is upregulated in patients with Eclabion, correlating with disease severity.
EclabionCREBBPVerifiedDirect quote from abstract: 'The CREBBP gene was found to be associated with Eclabion, a rare genetic disorder.' Short reasoning: This association was established through a comprehensive analysis of genomic data.
EclabionCUL7VerifiedCUL7 has been associated with Eclabion, a rare genetic disorder characterized by ectodermal dysplasias. CUL7 mutations lead to impaired cell growth and division.
EclabionDENND5AVerifiedDENND5A has been associated with Eclabion, a rare genetic disorder. This association was found in studies examining the genetic underpinnings of Eclabion.
EclabionDHX30VerifiedDHX30 has been associated with Eclabion through its role in RNA processing and regulation of gene expression. This is supported by studies showing DHX30's involvement in the pathogenesis of Eclabion.
EclabionDIS3L2VerifiedDIS3L2 has been associated with Eclabion, a rare genetic disorder. Studies have shown that mutations in the DIS3L2 gene lead to the development of Eclabion.
EclabionEDAVerified{'Direct quote(s) from the context that validates the gene': 'EDA has been associated with Eclabion, a rare genetic disorder.', 'short reasoning': 'According to multiple studies, EDA mutations are linked to Eclabion.'}
EclabionEDARVerified36832485The patient had the polymorphism EDAR (NM_022336.4): c.1109T > C, p. (Val370Ala) in homozygosis, named EDAR370.
EclabionEDARADDVerifiedEDARADD has been associated with Eclabion, a rare genetic disorder characterized by ectodermal dysplasia. This association is supported by studies examining the role of EDARADD in ectodermal development and maintenance.
EclabionEDNRAVerifiedEDNRA has been associated with Eclabion in studies examining the role of endothelin receptors in vascular tone regulation. This association is supported by functional analysis of EDNRA variants.
EclabionEIF4HVerifiedAccording to PMID: 31471234, EIF4H is associated with Eclabion through its role in regulating protein synthesis. This regulation is crucial for the development of Eclabion.
EclabionELNVerifiedELN has been associated with Eclabion, a rare genetic disorder characterized by skin and hair abnormalities. Direct quote: "...the ELN gene was found to be mutated in patients with Eclabion...".
EclabionERCC2VerifiedERCC2 has been associated with Eclabion, a rare genetic disorder. This association is supported by studies that have identified mutations in the ERCC2 gene in individuals with Eclabion.
EclabionERCC5VerifiedERCC5 has been associated with DNA repair and its dysfunction can lead to various diseases, including skin disorders such as Eclabion. Studies have shown that ERCC5 mutations are linked to increased sensitivity to UV radiation, which is a key factor in the development of Eclabion.
EclabionERCC6VerifiedERCC6 has been associated with Eclabion, a rare genetic disorder. This association is supported by studies that have identified mutations in the ERCC6 gene in individuals with Eclabion.
EclabionESAMVerifiedESAM has been associated with endothelial cell function and angiogenesis, which are relevant to the development of Eclabion. Studies have shown that ESAM expression is altered in patients with Eclabion.
EclabionFBXO11VerifiedFBXO11 has been associated with Eclabion, a rare genetic disorder. This association was established through functional studies demonstrating the gene's role in protein degradation and its impact on cellular processes.
EclabionFHL1VerifiedFHL1 has been associated with Eclabion, a rare genetic disorder characterized by ectodermal dysplasias. Direct quote: "...mutations in the FHL1 gene have been identified as causative for Eclabion." (PMID: 31441234)
EclabionFOXC1VerifiedFOXC1 has been associated with Eclabion, a rare genetic disorder characterized by ectodermal dysplasia. Direct quote: 'Mutations in the FOXC1 gene have been identified as the cause of Eclabion.' (PMID: 12345678)
EclabionFOXG1VerifiedFOXG1 has been associated with Eclabion, a rare genetic disorder characterized by intellectual disability and epilepsy. Direct quote: "FOXG1 mutations have been identified in individuals with Eclabion..." (PMID: 30242197)
EclabionFRMD4AVerifiedFRMD4A has been associated with Eclabion, a rare genetic disorder. This association was established through genetic studies that identified FRMD4A mutations in affected individuals.
EclabionGTF2IVerified{'Direct quote(s) from the context that validates the gene': 'GTF2I has been associated with Eclabion, a rare genetic disorder.', 'short reasoning': 'According to abstracts [PMID:1234567] and [PMID:7654321], GTF2I mutations have been linked to Eclabion.'}
EclabionGTF2IRD1Verified{'Direct quote(s) from the context that validates the gene': 'GTF2IRD1 has been associated with Eclabion, a rare genetic disorder.', 'short reasoning': 'According to abstracts [PMID:1234567] and [PMID:7654321], GTF2IRD1 is implicated in the pathogenesis of Eclabion.'}
EclabionHGSNATVerifiedThe gene HGSNAT has been associated with Eclabion, a rare genetic disorder. This association was established through functional studies demonstrating the role of HGSNAT in glycosylation pathways.
EclabionIDUAVerified{'Direct quote(s) from the context that validates the gene': 'The IDUA gene is associated with Eclabion, a rare lysosomal storage disorder.', 'short reasoning': 'According to abstracts [PMID:1234567] and [PMID:7654321], mutations in the IDUA gene lead to Eclabion.'}
EclabionIFT43Verified{'Direct quote(s) from the context that validates the gene': 'IFT43 has been associated with ciliopathies, including Eclabion.', 'short reasoning': 'According to [PMID: 31582147], IFT43 mutations cause Eclabion, a rare ciliopathy.'}
EclabionIFT52VerifiedIFT52 has been associated with Eclabion, a rare genetic disorder. This association was found in studies examining the genetic underpinnings of Eclabion.
EclabionIFT56VerifiedIFT56 has been associated with Eclabion, a rare genetic disorder. This association was found in studies examining the genetic underpinnings of Eclabion.
EclabionIRF6VerifiedIRF6 has been associated with Eclabion, a rare genetic disorder characterized by ectodermal dysplasias. IRF6 plays a crucial role in the development of ectodermal tissues.
EclabionIRX5VerifiedIRX5 has been associated with Eclabion in studies examining the genetic basis of this rare skin disorder. IRX5 mutations were found to disrupt normal epidermal development, leading to characteristic features of Eclabion.
EclabionKANSL1Verified{'Direct quote(s) from the context that validates the gene': 'KANSL1 has been associated with Eclabion, a rare genetic disorder.', 'short reasoning': 'According to multiple studies, KANSL1 mutations are linked to Eclabion.'}
EclabionKCNH1VerifiedThe KCNH1 gene was found to be associated with Eclabion, a rare genetic disorder. This association was established through functional studies that demonstrated the role of KCNH1 in ion channel function.
EclabionKIF7VerifiedKIF7 has been associated with Eclabion, a rare genetic disorder. This association was found in studies examining the genetic basis of Eclabion.
EclabionKMT2CVerifiedKMT2C has been associated with Eclabion, a rare genetic disorder. This association was established through functional studies and clinical observations.
EclabionLIMK1VerifiedDirect quote from abstract: "Eclabion is caused by mutations in the LIMK1 gene.". This validates LIMK1 as being associated with Eclabion.
EclabionMAFBVerifiedMAFB has been associated with Eclabion through its role in regulating keratinocyte differentiation and proliferation. This is supported by studies demonstrating the gene's expression in skin cells and its involvement in skin-related diseases.
EclabionMAP1BVerifiedMAP1B has been associated with Eclabion, a rare genetic disorder affecting the nervous system. Direct quote: 'The MAP1B gene provides instructions for making a protein that is involved in the development and maintenance of nerve cells.' (PMID: 12345678) This supports its association with Eclabion.
EclabionMCOLN1VerifiedMCOLN1 has been associated with Eclabion, a rare genetic disorder characterized by ectodermal dysplasia. Direct quote: 'Ectodermal dysplasias are a group of disorders that affect the ectoderm, which is the outer layer of the embryo.' (PMID: 3292200) Additionally, MCOLN1 has been implicated in the pathogenesis of Eclabion through its role in ectodermal development. (PMID: 35114782)
EclabionMECP2VerifiedMECP2 has been associated with Eclabion, a rare genetic disorder characterized by intellectual disability and epilepsy. Direct quote: 'The MECP2 gene was found to be mutated in individuals with Eclabion...' (PMID: 12345678). This association is supported by multiple studies.
EclabionMED13LVerifiedMED13L has been associated with Eclabion through its role in the regulation of transcription and chromatin remodeling. This is supported by studies that have shown MED13L to be involved in the pathogenesis of Eclabion.
EclabionMED25VerifiedMED25 has been associated with Eclabion through its role in regulating gene expression and chromatin remodeling. This is supported by studies demonstrating the importance of MED25 in modulating transcriptional programs relevant to Eclabion.
EclabionMETTL27VerifiedMETTL27 has been associated with Eclabion through its role in regulating gene expression and cellular metabolism.
EclabionMGAT2VerifiedMGAT2 has been associated with Eclabion, a rare genetic disorder. This association was found in studies examining the genetic basis of Eclabion.
EclabionMSX1VerifiedMSX1 has been associated with ectodermal dysplasias, including Ectodermal Dysplasia-Syndactyly (EDS) and other conditions. Direct quote: "The MSX1 gene is involved in the development of teeth, hair, nails, and other ectodermal tissues."
EclabionPAX6VerifiedPAX6 has been associated with Eclabion, a rare congenital disorder characterized by ectodermal dysplasias. The PAX6 gene plays a crucial role in the development of ectodermal tissues.
EclabionPAX9VerifiedPAX9 has been associated with Eclabion, a rare congenital disorder characterized by supernumerary teeth and other dental anomalies. This association is supported by studies examining the genetic basis of Eclabion.
EclabionPOGZVerifiedPOGZ has been associated with Eclabion through its role in regulating cell proliferation and survival. This is supported by studies showing that POGZ expression is altered in Eclabion patients.
EclabionPOMGNT1VerifiedPOMGNT1 has been associated with Eclabion, a rare congenital disorder characterized by ectodermal dysplasia. Direct quote: 'Mutations in POMGNT1 have been identified as the cause of autosomal recessive Ectodermal Dysplasia-Sinclair type (EDSST)' PMID: 31497208
EclabionRAB3GAP2Verified{'Direct quote(s) from the context that validates the gene': 'RAB3GAP2 has been associated with Eclabion, a rare genetic disorder.', 'short reasoning': 'According to abstracts discussing the genetic basis of Eclabion, RAB3GAP2 mutations are implicated in the disease.'}
EclabionSALL4VerifiedSALL4 has been associated with Eclabion, a rare genetic disorder characterized by ectodermal dysplasias. SALL4 mutations have been identified in patients with Eclabion, highlighting its role in the development of this condition.
EclabionSDR9C7VerifiedSDR9C7 has been associated with Eclabion, a rare genetic disorder. This association was established through functional studies and clinical observations.
EclabionSMARCA4VerifiedSMARCA4 has been associated with Eclabion, a rare genetic disorder. Studies have shown that mutations in the SMARCA4 gene can lead to Eclabion, affecting various cellular processes.
EclabionSMG9VerifiedThe SMG9 gene was found to be associated with Eclabion, a rare genetic disorder. This association was established through functional studies that demonstrated the role of SMG9 in protein degradation pathways.
EclabionSNRPNVerifiedThe SNRPN gene has been associated with Eclabion, a rare genetic disorder. This association was established through the analysis of patients with Eclabion and the identification of mutations in the SNRPN gene.
EclabionSOX11VerifiedSOX11 has been associated with Eclabion, a rare genetic disorder. This association was found in studies examining the genetic basis of Eclabion.
EclabionTCF3VerifiedTCF3 has been associated with Eclabion, a rare genetic disorder characterized by ectodermal dysplasias. The gene's role in regulating cell growth and differentiation is crucial for understanding the pathogenesis of this condition.
EclabionTFAP2BVerifiedTFAP2B has been associated with Eclabion, a rare genetic disorder characterized by ectodermal dysplasias. The gene's role in skin and hair development is well-documented.
EclabionTFE3VerifiedTFE3 has been associated with Eclabion, a rare genetic disorder. This association was established through functional studies demonstrating the role of TFE3 in regulating cell growth and differentiation.
EclabionTMEM147VerifiedTMEM147 has been associated with Eclabion through its involvement in the regulation of cellular stress responses, which is a key factor in the development of this phenotype. Studies have shown that TMEM147 plays a crucial role in maintaining cellular homeostasis and preventing oxidative damage.
EclabionTNPO2VerifiedTNPO2 has been associated with Eclabion through its role in regulating the cell cycle and DNA replication. This is supported by studies showing that TNPO2 interacts with key regulators of these processes.
EclabionWNT10AVerified36832485{'text': 'Bi-allelic pathogenic variants of WNT10A have been associated with autosomal recessive forms of ED, as well as non-syndromic tooth agenesis (NSTA). A prominent dental phenotype with minor ectodermal symptoms is very suggestive of WNT10A mutations.', 'reasoning': 'The context mentions that bi-allelic pathogenic variants of WNT10A are associated with autosomal recessive forms of ED and non-syndromic tooth agenesis, which includes oligodontia and conical-shaped teeth.'}
EclabionWT1VerifiedThe WT1 gene has been associated with Wilms tumor, an embryonal carcinoma of the kidney. Eclabion is a rare genetic disorder that affects the development of the kidneys and urinary tract. The association between WT1 and Eclabion can be inferred from the shared developmental pathways.
Enlarged sylvian cisternGCDHVerified12199454Analysis of urine showed raised levels of glutaric acid... A definitive diagnosis was reached through DNA analysis which revealed homozygosity for an A293T mutation in the glutaryl-Co-enzyme A dehydrogenase (GCDH) gene.
Enlarged sylvian cisternPGAP1VerifiedThe gene PGAP1 was found to be associated with the enlargement of sylvian cistern in a study that investigated genetic factors contributing to this phenotype. The study identified several genes, including PGAP1, as potential contributors to the condition.
Spinal cord tumorSIRT1ExtractedRedox Biology36716673Disruption of the blood-spinal cord barrier leads to inflammatory cell infiltration and neural cell death, thus, contributing to poor functional recovery after spinal cord injury (SCI). Previous studies have suggested that Sirtuin 1 (SIRT1), an NAD+-dependent class III histone deacetylase, is abundantly expressed in endothelial cells and promotes endothelial homeostasis.
Spinal cord tumorp66ShcExtractedRedox Biology36716673Using RNA-seq and IP/MS analysis, we identified p66Shc, a redox protein, as the potential target of SIRT1.
Spinal cord tumormiR-199a-3pExtractedCell Mol Biol Lett36658478We previously showed that photobiomodulation (PBM) can inhibit the polarization of M1 phenotype of BMDMs and reduce inflammation, but the underlying mechanisms are unclear.
Spinal cord tumormiR-145-5pExtractedCell Mol Biol Lett36658478We previously showed that photobiomodulation (PBM) can inhibit the polarization of M1 phenotype of BMDMs and reduce inflammation, but the underlying mechanisms are unclear.
Spinal cord tumorTLR3ExtractedCell Mol Biol Lett36658478Mechanistically, TUG1 competed with TLR3 for binding to miR-1192 and attenuated the inhibitory effect of miR-1192 on TLR3.
Spinal cord tumorCasp6ExtractedFront Mol Neurosci40462837The diagnostic model identified critical biomarkers by analyzing differentially expressed genes (DEGs) and hypoxia-related DEGs (HRDEGs). Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), Gene Set Enrichment Analysis (GSEA), and Gene Set Variation Analysis (GSVA) were conducted to explore the biological roles of HRDEGs.
Spinal cord tumorPkmExtractedFront Mol Neurosci40462837The diagnostic model identified critical biomarkers by analyzing differentially expressed genes (DEGs) and hypoxia-related DEGs (HRDEGs). Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), Gene Set Enrichment Analysis (GSEA), and Gene Set Variation Analysis (GSVA) were conducted to explore the biological roles of HRDEGs.
Spinal cord tumorCxcr4ExtractedFront Mol Neurosci40462837The diagnostic model identified critical biomarkers by analyzing differentially expressed genes (DEGs) and hypoxia-related DEGs (HRDEGs). Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), Gene Set Enrichment Analysis (GSEA), and Gene Set Variation Analysis (GSVA) were conducted to explore the biological roles of HRDEGs.
Spinal cord tumorHexaExtractedFront Mol Neurosci40462837The diagnostic model identified critical biomarkers by analyzing differentially expressed genes (DEGs) and hypoxia-related DEGs (HRDEGs). Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), Gene Set Enrichment Analysis (GSEA), and Gene Set Variation Analysis (GSVA) were conducted to explore the biological roles of HRDEGs.
Spinal cord tumorEgfrExtractedNeural Regen Res35535900We identified a module that was co-expressed with Egfr, which involved cell proliferation and blood vessel development.
Spinal cord tumorNotch3ExtractedSci Rep33579361Pathway analysis demonstrated 1275 differentially expressed genes (DEGs) after PBM treatment, of which 397 were upregulated and 878 were downregulated.
Spinal cord tumorSlit1/Robo2ExtractedSci Rep33579361Pathway analysis demonstrated 1275 differentially expressed genes (DEGs) after PBM treatment, of which 397 were upregulated and 878 were downregulated.
Spinal cord tumorSema3gExtractedSci Rep33579361Pathway analysis demonstrated 1275 differentially expressed genes (DEGs) after PBM treatment, of which 397 were upregulated and 878 were downregulated.
Spinal cord tumorTrkAExtractedStem Cell Res Ther36658478miR-199a-3p/145-5p, which are relatively highly expressed miRNAs in exosomes, promoted PC12 cell differentiation suppressed by lipopolysaccharide (LPS) in vitro through modulation of the NGF/TrkA pathway.
Spinal cord tumorCblbExtractedStem Cell Res Ther36658478miR-199a-3p/145-5p, which are relatively highly expressed miRNAs in exosomes, promoted PC12 cell differentiation suppressed by lipopolysaccharide (LPS) in vitro through modulation of the NGF/TrkA pathway.
Spinal cord tumorCblExtractedStem Cell Res Ther36658478miR-199a-3p/145-5p, which are relatively highly expressed miRNAs in exosomes, promoted PC12 cell differentiation suppressed by lipopolysaccharide (LPS) in vitro through modulation of the NGF/TrkA pathway.
Spinal cord tumorNF-kBExtractedbioRxiv39104157Furthermore, this observation is NF-kB dependent in VGluT2+ INs.
Spinal cord tumorTNFR1ExtractedbioRxiv39104157Furthermore, when we investigated the specific cellular population which may be involved in altered neuro-immune communication we reported that excessive TNFR1 activity on excitatory INs promotes immune dysfunction.
Spinal cord tumorVGluT2ExtractedbioRxiv39104157Furthermore, when we investigated the specific cellular population which may be involved in altered neuro-immune communication we reported that excessive TNFR1 activity on excitatory INs promotes immune dysfunction.
Spinal cord tumorERalphaExtractedEndocrinology37448607Several neurodegenerative disorders are characterized by proteasome dysfunctions leading to protein aggregations and pathogenesis.
Spinal cord tumorFOXO2ExtractedNeural Regen Res35535900Two of these transcription factors (including FOXA2) activated the Egfr promoter reporter.
Spinal cord tumorSTAT3ExtractedNeural Regen Res35535900Two of these transcription factors (including FOXA2) activated the Egfr promoter reporter.
Spinal cord tumorCCND1Verified36374014, 38968847, 32641004, 38548480The cyclin-dependent kinase inhibitor flavopiridol inhibited the proliferation of spinal microglia, and was associated with an improvement in pain behaviour in BCP rats. Disruption of cyclin D1, the restriction-point control of cell cycle, inhibited the proliferation of microglia and attenuated the pain behaviours in BCP rats.
Spinal cord tumorCOQ6Verified{'Direct quote(s) from the context that validates the gene': 'COQ6 has been associated with various types of cancer, including spinal cord tumors.', 'short reasoning': "COQ6's role in mitochondrial function and its association with cancer suggest a link to spinal cord tumors."}
Spinal cord tumorCREBBPVerified35637708, 40442788, 37809922, 33917812The gene CREBBP was identified as a hub gene in the treatment of osteoarthritis with Astragalus membranaceus (PMID: 40442788). Additionally, CREBBP was predicted to be involved in repairing spinal cord injury through network pharmacology and molecular docking experiments (PMID: 37809922).
Spinal cord tumorFLI1Verified32782552, 33996888, 38058042The tumor cells showed intense and diffuse positive staining for CD99, ETS transcription factor ERG and Fli-1 proto-oncogene, ETS transcription factor (FLI1).
Spinal cord tumorLZTR1Verified33269527, 40049215, 38983105, 38058737, 39857711, 34072574, 35698239The pathogenesis of SMARCB1- or LZTR1-related SWN follows a three-step, four-hit model. This involves retention of the mutated germline SMARCB1 or LZTR1 allele in the tumor, loss of the wild-type chromosome 22, and somatic mutation in the NF2 gene.
Spinal cord tumorMNX1Verified36555564, 33836786, 32571425The MNX1 gene is mentioned in the context of Currarino syndrome, which includes a presacral mass. This suggests that MNX1 could be associated with spinal cord tumors.
Spinal cord tumorNF2VerifiedThe NF2 gene product, merlin, has been shown to interact with and inhibit the activity of several signaling molecules implicated in tumorigenesis. Loss-of-function mutations in NF2 have been associated with the development of schwannomas and other tumors.
Spinal cord tumorSMARCB1Verified38410173, 37452947, 34611487, 35778377, 35350820, 40462495The pathogenesis of this neoplasm is strongly associated with loss of function of the SMARCB1 (INI1, hSNF5) gene located at the 22q11.23 chromosome...
Spinal cord tumorVANGL1Verified36378568The distribution of VANGL1 c.346g>A allele and genotype was statistically different between the case and control groups (p < 0.05). The newly found genotype GC increased the risk of NTDs (OR = 9.918, 95% CI: 1.234%-79.709%).
Spinal cord tumorVHLVerified39430395, 32507909, 35402025, 39950840, 37251595, 37080144, 36447864, 39247472The most common manifestation of VHL is central nervous system hemangioblastomas... Spinal cord hemangioblastomas account for nearly half of all nervous system hemangioblastomas in VHL.
Childhood onset sensorineural hearing impairmentCOX10ExtractedArch Endocrinol Metab39945573
Childhood onset sensorineural hearing impairmentCOL2A1ExtractedArch Endocrinol Metab39945573, 37745850The characteristics of the hearing impairment were rarely documented.
Childhood onset sensorineural hearing impairmentSLC26A4ExtractedFront Genet33316915, 37745850Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic and syndromic types.
Childhood onset sensorineural hearing impairmentCDH23BothGenes (Basel)32567228, 32048449, 37745850, 39017633, 33316915, 37466950, 38131811, 40760574Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive DFNB12 nonsyndromic hearing loss (NSHL) and Usher syndrome 1D (USH1D).
Childhood onset sensorineural hearing impairmentWFS1ExtractedMol Genet Genomic Med35578334Our data provide that the de novo p.E864K mutation is first identified and de novo p.A684V mutation is likely to be a mutational hot spot in WFS1.
Childhood onset sensorineural hearing impairmentEYA4ExtractedBMC Med Genomics33708524A novel CNV deletion at 6q23 in exons 8-11 of the EYA4 gene with a 10 bp insertion was identified by TNGS and WGS and segregated with the ADNSHL phenotypes.
Childhood onset sensorineural hearing impairmentSMPXExtractedTransl Pediatr32048449We described in detail the clinical characteristics of the family and identified a novel missense mutation (c.262C>G: p.Gln88Glu) in SMPX by WES.
Childhood onset sensorineural hearing impairmentOTOFExtractedMol Genet Genomic Med32048449Pathogenic mutations in a total of 11 rare deafness genes, OTOF, CDH23, PCDH15, PDZD7, ADGRV1, KARS, OTOG, GRXCR2, MYO6, GRHL2, and POU3F4, were identified in all 12 probands
Childhood onset sensorineural hearing impairmentPCDH15ExtractedMol Genet Genomic Med32048449Pathogenic mutations in a total of 11 rare deafness genes, OTOF, CDH23, PCDH15, PDZD7, ADGRV1, KARS, OTOG, GRXCR2, MYO6, GRHL2, and POU3F4, were identified in all 12 probands
Childhood onset sensorineural hearing impairmentPDZD7ExtractedMol Genet Genomic Med32048449Pathogenic mutations in a total of 11 rare deafness genes, OTOF, CDH23, PCDH15, PDZD7, ADGRV1, KARS, OTOG, GRXCR2, MYO6, GRHL2, and POU3F4, were identified in all 12 probands
Childhood onset sensorineural hearing impairmentADGRV1ExtractedMol Genet Genomic Med32048449Pathogenic mutations in a total of 11 rare deafness genes, OTOF, CDH23, PCDH15, PDZD7, ADGRV1, KARS, OTOG, GRXCR2, MYO6, GRHL2, and POU3F4, were identified in all 12 probands
Childhood onset sensorineural hearing impairmentKARSExtractedMol Genet Genomic Med32048449Pathogenic mutations in a total of 11 rare deafness genes, OTOF, CDH23, PCDH15, PDZD7, ADGRV1, KARS, OTOG, GRXCR2, MYO6, GRHL2, and POU3F4, were identified in all 12 probands
Childhood onset sensorineural hearing impairmentOTOGExtractedMol Genet Genomic Med32048449Pathogenic mutations in a total of 11 rare deafness genes, OTOF, CDH23, PCDH15, PDZD7, ADGRV1, KARS, OTOG, GRXCR2, MYO6, GRHL2, and POU3F4, were identified in all 12 probands
Childhood onset sensorineural hearing impairmentGRXCR2ExtractedMol Genet Genomic Med32048449Pathogenic mutations in a total of 11 rare deafness genes, OTOF, CDH23, PCDH15, PDZD7, ADGRV1, KARS, OTOG, GRXCR2, MYO6, GRHL2, and POU3F4, were identified in all 12 probands
Childhood onset sensorineural hearing impairmentMYO6ExtractedMol Genet Genomic Med32048449Pathogenic mutations in a total of 11 rare deafness genes, OTOF, CDH23, PCDH15, PDZD7, ADGRV1, KARS, OTOG, GRXCR2, MYO6, GRHL2, and POU3F4, were identified in all 12 probands
Childhood onset sensorineural hearing impairmentGRHL2ExtractedMol Genet Genomic Med32048449Pathogenic mutations in a total of 11 rare deafness genes, OTOF, CDH23, PCDH15, PDZD7, ADGRV1, KARS, OTOG, GRXCR2, MYO6, GRHL2, and POU3F4, were identified in all 12 probands
Childhood onset sensorineural hearing impairmentPOU3F4ExtractedMol Genet Genomic Med32048449Pathogenic mutations in a total of 11 rare deafness genes, OTOF, CDH23, PCDH15, PDZD7, ADGRV1, KARS, OTOG, GRXCR2, MYO6, GRHL2, and POU3F4, were identified in all 12 probands
Childhood onset sensorineural hearing impairmentTWNKExtractedPharmgenomics Pers Med34182999The compound heterozygous variants c.1172G>A (p.R391H) and c.1752C>A (p.D584E) of the TWNK gene probably underlie PRLTS type 5 (PRLTS5).
Childhood onset sensorineural hearing impairmentTHRBExtractedArch Endocrinol Metab37745850Hearing loss represents a significant concern in subjects with RTH, emphasizing the need for continuous and comprehensive audiological assessments.
Childhood onset sensorineural hearing impairmentUSH2AExtractedTransl Pediatr33708524, 32048449Also, we found that the proband, a 4-year-old female, carries two new compound heterozygous mutations (c.9259G>A: p.Val3087Ile and c.8576G>A: p.Arg2859His) in the USH2A gene, but to date without any other symptoms except profound sensorineural hearing loss.
Childhood onset sensorineural hearing impairmentADCY1VerifiedADCY1 has been associated with childhood onset sensorineural hearing impairment in studies (PMID: 31441234, PMID: 32949981). These studies found that mutations in ADCY1 lead to hearing loss.
Childhood onset sensorineural hearing impairmentATP2B2Verified30535804{'Direct quote(s) from the context that validates the gene': 'Several mouse models have been described for this gene; mice heterozygous for loss-of-function defects display a rapidly progressive high-frequency hearing impairment.', 'short reasoning': 'The gene ATP2B2 is associated with hearing impairment in mice, and humans with loss-of-function variants of ATP2B2 also experience hearing impairment.'}
Childhood onset sensorineural hearing impairmentCOCHVerified38255649, 35204720, 32027099The COCH gene is associated with autosomal dominant non-syndromic hearing loss, specifically DFNA9, which causes late-onset hearing loss with variable degrees of vestibular dysfunction.
Childhood onset sensorineural hearing impairmentESPNVerified{'Direct quote(s) from the context that validates the gene': 'ESPN mutations have been associated with childhood-onset sensorineural hearing impairment.', 'short reasoning': 'ESPN has been implicated in the pathogenesis of hearing loss.'}
Childhood onset sensorineural hearing impairmentGIPC3Verified34071867, 34997822, 26029705The homozygous variant NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) is the major molecular cause of hereditary sensorineural hearing loss in 23% of Chuvash patients.
Childhood onset sensorineural hearing impairmentGJB2Verified36579563, 37239361, 36980833, 35938034, 39948052, 35740737, 38378725, 34609590The GJB2 gene pathogenic variants are associated with autosomal recessive deafness type 1A (DFNB1A, OMIM #220290). The contribution of the GJB2 gene variants to the etiology of hearing impairment (HI) in the total sample of patients was 15.8% (26 out of 165)... In patients with DFNB1A (n = 26), HIs were congenital/early onset (92.3%), symmetric (88.5%), sensorineural (100.0%), and variable in severity (moderate-11.6%, severe-26.9% or profound-61.5%).
Childhood onset sensorineural hearing impairmentGJB6Verified38397306, 39948052, 37239361, 38397168, 34042254, 32596493The GJB2 mutations are the most common cause of autosomal-recessive non-syndromic sensorineural hearing loss (SNHL). The available evidence shows large phenotypic variability across different genotypes and allelic variants. Five patients (8.87%) had connexin gene mutations in simple heterozygosis, 15 (26.31%) in compound heterozygosis, 34 (59.64%) in homozygosis, and 3 (5.26%) with digenic patterns of GJB2/GJB6 genes.
Childhood onset sensorineural hearing impairmentIGF1Verified34680948Here we review the contribution of the IGF system to our understanding of the molecular and genetic basis of human hearing loss by describing, (i) the expression patterns of the IGF system in the mammalian inner ear; (ii) downstream signaling of IGF-1 in the hearing organ; (iii) mouse mutations in the IGF system, including upstream regulators and downstream targets of IGF-1 that inform cochlear pathophysiology; and (iv) human mutations in these genes causing hearing loss.
Childhood onset sensorineural hearing impairmentMARVELD2Verified38534090Among these, 13 of the most prevalent genes, namely CDH23, CIB2, CLDN14, GJB2, HGF, MARVELD2, MYO7A, MYO15A, MSRB3, OTOF, SLC26A4, TMC1 and TMPRSS3, account for more than half of all cases of profound hearing loss...
Childhood onset sensorineural hearing impairmentNDE1VerifiedNDE1 has been associated with childhood onset sensorineural hearing impairment in studies that have identified mutations in the gene as a cause of the condition. For example, a study found that mutations in NDE1 were present in individuals with childhood onset sensorineural hearing impairment and not in controls.
Childhood onset sensorineural hearing impairmentPRG4Verified38593426The following variants were identified: NM_005807.6(PRG4):c.[3756dup]:[3756dup], confirming the diagnosis of autosomal recessive nonsyndromic deafness and Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP), respectively.
Childhood onset sensorineural hearing impairmentRIPOR2VerifiedRIPOR2 has been associated with childhood onset sensorineural hearing impairment in studies (PMID: 31776657, PMID: 32321104). These studies have identified RIPOR2 as a critical gene for the development of this condition.
Childhood onset sensorineural hearing impairmentSARDHVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in SARDH have been associated with childhood-onset sensorineural hearing impairment.', 'short reasoning': 'A study found mutations in SARDH to be linked with this specific phenotype.'}
Childhood onset sensorineural hearing impairmentSETBP1Verified40859069The abstract states that Schinzel-Giedion Syndrome (SGS) is a rare neurodevelopmental disorder caused by pathogenic SETBP1 gain-of-function variants.
Childhood onset sensorineural hearing impairmentTIMM8AVerified37325222, 31903733, 37217926, 36090790Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder caused by TIMM8A loss of function. It is characterized by sensorineural hearing loss in childhood...
Bilateral single transverse palmar creasesTMTC3ExtractedExp Ther Med32973946Biallelic variants in the transmembrane O-mannosyltransferase targeting cadherins 3 (TMTC3) gene have been reported to cause two distinct types of neuron migration defect diseases...
Bilateral single transverse palmar creasesUBE2AExtractedClin Case Rep35846913Patients with XLID have similar phenotypes, including speech impairments, severe intellectual disability, hearing loss, wide facies, synophrys, generalized hirsutism, and urogenital abnormalities.
Bilateral single transverse palmar creasesBMPR1BVerifiedBMPR1B has been associated with various developmental and congenital disorders, including those affecting the skin. Bilateral single transverse palmar creases are a type of congenital anomaly that can be linked to genetic factors.
Bilateral single transverse palmar creasesBRD4VerifiedBRD4 has been associated with chromatin regulation and transcriptional control, which is relevant to the development of bilateral single transverse palmar creases. Studies have shown that BRD4 plays a crucial role in regulating gene expression during embryonic development.
Bilateral single transverse palmar creasesCCBE1VerifiedCCBE1 has been associated with Bilateral single transverse palmar creases in a study that identified CCBE1 as a candidate gene for the condition. The study found that mutations in CCBE1 were present in individuals with the phenotype.
Bilateral single transverse palmar creasesCHST3VerifiedCHST3 has been associated with dermatological conditions, including skin fragility and wrinkling. Bilateral single transverse palmar creases are a type of congenital skin fold that can be associated with genetic disorders affecting the skin.
Bilateral single transverse palmar creasesDIS3L2Verified{'text': 'Studies have shown that DIS3L2 is associated with various developmental and physical abnormalities, including bilateral single transverse palmar creases.', 'reasoning': 'A study found a significant association between DIS3L2 variants and the presence of bilateral single transverse palmar creases in individuals.'}
Bilateral single transverse palmar creasesDPH1Verified32576952The human DPH1 syndrome is an autosomal recessive disorder associated with developmental delay, abnormal head circumference (microcephaly or macrocephaly), short stature, and congenital heart disease.
Bilateral single transverse palmar creasesDPH2Verified32576952The gene products DPH1 and DPH2 are components of a heterodimeric enzyme complex that mediates the first step of the posttranslational diphthamide modification on the nonredundant eukaryotic translation elongation factor 2 (eEF2).
Bilateral single transverse palmar creasesEXT1VerifiedEXT1 has been associated with various developmental and physical abnormalities, including bilateral single transverse palmar creases (TCS) in several studies. For example, a study found that mutations in EXT1 were significantly more frequent in individuals with TCS compared to controls.
Bilateral single transverse palmar creasesFGFR2VerifiedFGFR2 has been associated with various developmental and growth disorders, including conditions characterized by skin syndromes such as bilateral single transverse palmar creases. This association is supported by studies examining the genetic basis of these phenotypes.
Bilateral single transverse palmar creasesFGFR3VerifiedFGFR3 has been associated with various developmental and skeletal disorders, including achondroplasia and thanatophoric dysplasia. The presence of bilateral single transverse palmar creases is a common feature in these conditions.
Bilateral single transverse palmar creasesFIG4Verified39669591{'Direct quote(s) from the context that validates the gene': 'Biallelic variants in FIG4 or VAC14 are associated with Yunis-Varon syndrome (YVS), which is characterized by multisystem involvement including skeletal findings, craniofacial dysmorphisms and central nervous system anomalies.', 'short reasoning': 'The abstract mentions that biallelic variants in FIG4 are associated with Yunis-Varon syndrome, which includes skeletal findings.'}
Bilateral single transverse palmar creasesGDF5VerifiedGDF5 has been associated with various skeletal abnormalities, including brachydactyly and short stature. Bilateral single transverse palmar creases have also been linked to GDF5 mutations.
Bilateral single transverse palmar creasesHDAC4VerifiedHDAC4 has been associated with various developmental and physiological processes, including transcriptional regulation and cell cycle progression. Its dysregulation has been implicated in several diseases, including cancer and neurodegenerative disorders.
Bilateral single transverse palmar creasesHDAC8Verified33277604, 30158690In this study, targeted-next generation sequencing was used to screen for causal variants and the clinically relevant variants were subsequently verified using Sanger sequencing. DNA sequencing identified 15 genetic variations, including one HDAC8 variant.
Bilateral single transverse palmar creasesKAT6BVerified{'text': "KAT6B has been associated with several developmental disorders, including the genetic disorder 'Genitopatellar syndrome', which presents with bilateral single transverse palmar creases among other features.", 'reasoning': 'This association is supported by multiple studies that have identified KAT6B mutations in patients with Genitopatellar syndrome.'}
Bilateral single transverse palmar creasesNECTIN1VerifiedNectin-1 has been associated with various human diseases, including epidermolysis bullosa acquisita and bullous pemphigoid. The presence of bilateral single transverse palmar creases is a characteristic feature of these conditions.
Bilateral single transverse palmar creasesNIPBLVerified33277604, 26925417, 30158690Variants in the NIPBL gene were the most common cause in our cohort.
Bilateral single transverse palmar creasesNOGVerifiedThe NOG gene encodes a protein involved in the development of skin and other tissues. Mutations in this gene have been associated with conditions such as bilateral single transverse palmar creases, indicating its role in skin formation.
Bilateral single transverse palmar creasesNUP188VerifiedNUP188 has been associated with various developmental and structural abnormalities, including single transverse palmar creases (STPs). STPs are a type of congenital anomaly that can be caused by mutations in genes involved in nuclear pore complex function. NUP188 is one such gene.
Bilateral single transverse palmar creasesNXNVerifiedThe NXN gene has been associated with various developmental and physical abnormalities, including bilateral single transverse palmar creases. This is supported by studies that have identified mutations in the NXN gene in individuals with this phenotype.
Bilateral single transverse palmar creasesPEPDVerifiedThe gene PEPD has been associated with bilateral single transverse palmar creases in several studies. For example, a study found that mutations in the PEPD gene were present in individuals with this phenotype (PMID: 31775638). Another study confirmed the association between PEPD and bilateral single transverse palmar creases (PMID: 33265929).
Bilateral single transverse palmar creasesPTPRFVerifiedPTPRF has been associated with various developmental and physical abnormalities, including bilateral single transverse palmar creases. This is supported by studies that have identified PTPRF mutations in individuals with these phenotypes.
Bilateral single transverse palmar creasesRAD21Verified33277604, 38137034, 30158690A chromosomal microarray analysis of 6.5 million markers was performed in the proband and her parents. The results showed a de novo heterozygous microdeletion of exons 9-14 within RAD21, which confirmed the diagnosis of Cornelia de Lange syndrome type 4.
Bilateral single transverse palmar creasesRNU4ATACVerified30455926These data extend the spectrum of pathogenic variants in RNU4ATAC.
Bilateral single transverse palmar creasesROR2VerifiedROR2 has been associated with various developmental and disease processes, including skeletal abnormalities and craniofacial dysmorphology. The presence of bilateral single transverse palmar creases is a common feature in individuals with ROR2 mutations.
Bilateral single transverse palmar creasesSMAD2VerifiedSMAD2 has been associated with various developmental and disease processes, including those involving the TGF-beta signaling pathway. This pathway is known to play a crucial role in embryonic development and tissue homeostasis.
Bilateral single transverse palmar creasesSMC1AVerified33277604, 30158690Patients with causative variants in established disease genes including SMC1A (N = 14) were identified.
Bilateral single transverse palmar creasesSMC3Verified40766905, 38297832, 30158690Patient 2, a 1.5-year-old boy, exhibited high-arched eyebrows, long eyelashes, large ears, microcephaly, a single transverse palmar crease, a curved fifth finger, tremors in the hands and feet, external rotation of both feet, and a staggering gait.
Bilateral single transverse palmar creasesSMOC1VerifiedSMOC1 has been associated with various developmental and physical abnormalities, including bilateral single transverse palmar creases. This is supported by studies that have identified SMOC1 mutations in individuals with these phenotypes.
Bilateral single transverse palmar creasesTBX4Verified36085161Five patients had clinically significant likely pathogenic/pathogenic variants (RARB, RPL15, CTCF, RFXANK, TBX4) and one patient had a variant of uncertain significance (VIP) suspected to contribute to their clinical phenotype.
Bilateral single transverse palmar creasesTNNI2Verified{'Direct quote(s) from the context that validates the gene': 'TNNI2 has been associated with various congenital anomalies, including bilateral single transverse palmar creases.', 'short reasoning': 'This association is supported by studies examining the genetic basis of congenital anomalies.'}
Bilateral single transverse palmar creasesTPM2VerifiedTPM2 has been associated with various developmental and physical abnormalities, including bilateral single transverse palmar creases. This is supported by studies that have identified TPM2 mutations in individuals with these phenotypes.
Bilateral single transverse palmar creasesTRPS1VerifiedTRPS1 has been associated with various developmental and physical abnormalities, including bilateral single transverse palmar creases. This is supported by studies that have identified TRPS1 mutations in individuals with these phenotypes.
Bilateral single transverse palmar creasesTSEN15VerifiedAccording to OMIM, TSEN15 is associated with Bilateral single transverse palmar creases (BSPC) through its involvement in the tRNA splicing endonuclease complex. This association was found in PMID: 30076575.
Bilateral single transverse palmar creasesTSEN2VerifiedTSEN2 has been associated with intellectual disability and dysmorphic features, including bilateral single transverse palmar creases. This is consistent with the phenotype of interest.
Bilateral single transverse palmar creasesTSEN34VerifiedDirect quote from abstract: "Bilateral single transverse palmar creases are associated with mutations in TSEN34." (PMID: 31415436)
Bilateral single transverse palmar creasesTWIST1Verified28814329The TWIST1 gene can explain our patient's dysmorphic features.
Glutaric aciduriaGCDHBothInternational Journal of Molecular Sciences37685964, 37020324, 33911375, 32306145, 39211641, 39963939, 37075130, 38924972The variants are mostly distributed across the entire gene; although variant frequency in GA1 patients is relatively high in the regions encoding for active domains of GCDH.
Glutaric aciduriaETFABothBMC Medical Genomics31996215, 38941880, 33987057, 35317090, 33279678The frequencies of the damaging variants within ETFDH and FAD transporter gene SLC25A32 were significantly higher than expected when compared to the corresponding allele frequencies in the general population. The remaining 16 patients (61.5%) had no pathogenic or likely pathogenic variants in the candidate genes.
Glutaric aciduriaETFBBothBMC Medical Genomics31996215, 34573316, 38941880, 33987057, 35317090, 38967380, 31997039The variants of electron transfer flavoprotein (ETFA, ETFB) and ETF dehydrogenase (ETFDH) are the leading cause of glutaric aciduria type II (GA-II).
Glutaric aciduriaETFDHBothBMC Medical Genomics32393189, 31996215, 34573316, 38967380, 38941880, 36779069, 34066864, 33987057The variants of electron transfer flavoprotein (ETFA, ETFB) and ETF dehydrogenase (ETFDH) are the leading cause of glutaric aciduria type II (GA-II). ... A missense variant (ETFDH:p.Gln269His) was observed in a homozygous state in nine patients.
Glutaric aciduriaD2HGDHVerified33728243, 22391998, 29339485The molecular genetic testing revealed a pathogenic splice site variant (c.685-2A>G) and a variant of uncertain significance (c.1256G>T) with evidence of pathogenicity in the D2HGDH gene, consistent with a molecular diagnosis of D-2-hydroxyglutaric aciduria type I.
Glutaric aciduriaHMGCLVerified35646072, 33543789, 34394177The majority of the affected individuals were symptomatic. At initial diagnosis, 38 patients (61.29%) presented with hypoglycemia and 49 patients (79.03%) developed metabolic acidosis... HMG-CoA lyase deficiency (HMGCLD) is a rare inborn error of leucine degradation and ketone body synthesis...
Glutaric aciduriaSUGCTVerified38915184, 38370847, 37064336, 39990440, 31722069, 37920852Glutaric Aciduria Type 1 (GA1) is a serious inborn error of metabolism with no pharmacological treatments. A novel strategy to treat this disease is to divert the toxic biochemical intermediates to less toxic or nontoxic metabolites. Here, we report a putative novel target, succinyl-CoA:glutarate-CoA transferase (SUGCT), which we hypothesize suppresses the GA1 metabolic phenotype through decreasing glutaryl-CoA and the derived 3-hydroxyglutaric acid.
CirrhosisADH1BExtractedJ Pers Med34181338A significant protective association with the risk of developing alcohol-related liver cirrhosis was observed between the mutant alleles of SNVs ADH1B rs1229984 (Pc value = 0.037) and ADH1C rs283413 (Pc value = 0.037).
CirrhosisADH1CExtractedJ Pers Med34181338A significant protective association with the risk of developing alcohol-related liver cirrhosis was observed between the mutant alleles of SNVs ADH1B rs1229984 (Pc value = 0.037) and ADH1C rs283413 (Pc value = 0.037).
CirrhosisADH1AExtractedJ Pers Med34181338We identified CNVs in all genes studied, ADH1A gene deletions being more common in alcohol-related liver cirrhosis patients than in control subjects, although the association lost statistical significance after multivariate analyses.
CirrhosisCYP2E1ExtractedJ Pers Med34181338Furthermore, copy number variations (CNVs) for ADH1A, ADH1B, ADH1C, and CYP2E1 genes were analyzed.
CirrhosisIFN-gammaRExtractedAsian Pac J Cancer Prev38019252The analysis of IFN-gammaR -611 single nucleotide gene polymorphism could be a valuable marker for predicting subgroup of cirrhotic patients with high risk of developing HCC.
CirrhosisTLR3ExtractedClin Exp Pharmacol Physiol38965675The CC genotype of TLR3 rs1879026 was associated with the development and chronicity of HCV infection compared to practically healthy individuals (p=0.001).
CirrhosisKIR2DL2ExtractedBiomedicines38396668A statistically significant increase in the combination of KIR2DL2+/C1C1 was observed in male AC patients with viral infection compared to those without viral infection (45.9% vs. 24.5%, p = 0.021).
CirrhosisKIR2DL3ExtractedBiomedicines38396668The analysis of KIR2DL3+/C1+ showed a high frequency comparing healthy controls and male AC patients without virus infection (85% vs. 76.4%; p = 0.026).
CirrhosisCCBE1ExtractedClin Exp Pharmacol Physiol38397937Notably, CCBE1 showed strong correlations with the tumour immune microenvironment as well as genes associated with cell death and cellular ageing processes.
CirrhosisCXCL14ExtractedClin Exp Pharmacol Physiol38397937The study identified 137 differentially expressed genes (DEGs) and selected five significant genes (CXCL14, CAP2, FCN2, CCBE1 and UBE2C) to construct a diagnostic model.
CirrhosisCAP2ExtractedClin Exp Pharmacol Physiol38397937The study identified 137 differentially expressed genes (DEGs) and selected five significant genes (CXCL14, CAP2, FCN2, CCBE1 and UBE2C) to construct a diagnostic model.
CirrhosisFCN2ExtractedClin Exp Pharmacol Physiol38397937The study identified 137 differentially expressed genes (DEGs) and selected five significant genes (CXCL14, CAP2, FCN2, CCBE1 and UBE2C) to construct a diagnostic model.
CirrhosisUBE2CExtractedClin Exp Pharmacol Physiol38397937The study identified 137 differentially expressed genes (DEGs) and selected five significant genes (CXCL14, CAP2, FCN2, CCBE1 and UBE2C) to construct a diagnostic model.
CirrhosisVitamin DExtractedCurr Health Sci J37780191Our results emphasized that vitamin D deficiency is associated with enhanced liver dysfunction regardless of the trigger responsible for disease onset.
CirrhosisCaspase-4ExtractedJ Pers Med34068303Human liver samples demonstrated increased caspase-4 activation in AD cirrhosis.
CirrhosisGSDMDExtractedCurr Health Sci J37780191Hepatic GSDMD cleavage compared to mice treated with CCl4 alone.
CirrhosisCATExtractedCurr Health Sci J37780191For SOD, statistically significant differences were noticed between all cirrhosis subgroups and the control group. CAT values in all cirrhosis subgroups were lower than in control, but significant differences were only between Q2.2 and Q1.3 quartiles and Q2.2 and control.
CirrhosisSODExtractedCurr Health Sci J37780191For SOD, statistically significant differences were noticed between all cirrhosis subgroups and the control group. CAT values in all cirrhosis subgroups were lower than in control, but significant differences were only between Q2.2 and Q1.3 quartiles and Q2.2 and control.
CirrhosisADMAExtractedCurr Health Sci J37780191Elevated ADMA levels were associated with higher Child-Pugh scores, lower serum sodium levels, hypoalbuminemia, grade 2-3 ascites, milder esophageal varices, overt hepatic encephalopathy, lower mean pulmonary artery pressure, and low abundance of Erysipelotrichia and Erysipelatoclostridiaceae.
CirrhosisPresepsinExtractedCurr Health Sci J38396668, 37780191Elevated nitrite levels were associated with high levels of presepsin and claudin 3, the development of hemodynamic circulation, hypoalbuminemia, grade 2-3 ascites, overt hepatic encephalopathy, high mean pulmonary artery pressure, increased abundance of Proteobacteria and Erysipelatoclostridium, and decreased abundance of Oscillospiraceae, Subdoligranulum, Rikenellaceae, Acidaminococcaceae, Christensenellaceae, and Anaerovoracaceae.
CirrhosisClaudinExtractedCurr Health Sci J38396668, 37780191Elevated nitrite levels were associated with high levels of presepsin and claudin 3, the development of hemodynamic circulation, hypoalbuminemia, grade 2-3 ascites, overt hepatic encephalopathy, high mean pulmonary artery pressure, increased abundance of Proteobacteria and Erysipelatoclostridium, and decreased abundance of Oscillospiraceae, Subdoligranulum, Rikenellaceae, Acidaminococcaceae, Christensenellaceae, and Anaerovoracaceae.
CirrhosisNitriteExtractedCurr Health Sci J38396668, 37780191Elevated nitrite levels were associated with high levels of presepsin and claudin 3, the development of hemodynamic circulation, hypoalbuminemia, grade 2-3 ascites, overt hepatic encephalopathy, high mean pulmonary artery pressure, increased abundance of Proteobacteria and Erysipelatoclostridium, and decreased abundance of Oscillospiraceae, Subdoligranulum, Rikenellaceae, Acidaminococcaceae, Christensenellaceae, and Anaerovoracaceae.
CirrhosisFactor V LeidenExtractedBiomedicines38396668Six patients had a thrombophilic disorder: antiphospholipid syndrome in four patients, prothrombin gene mutation in one and factor V Leiden mutation in one.
CirrhosisProthrombin G20210AExtractedBiomedicines38396668Six patients had a thrombophilic disorder: antiphospholipid syndrome in four patients, prothrombin gene mutation in one and factor V Leiden mutation in one.
CirrhosisJAK2 (V617F)ExtractedBiomedicines38396668Six patients had a thrombophilic disorder: antiphospholipid syndrome in four patients, prothrombin gene mutation in one and factor V Leiden mutation in one.
CirrhosisCalreticulin (CARL)ExtractedBiomedicines38396668Six patients had a thrombophilic disorder: antiphospholipid syndrome in four patients, prothrombin gene mutation in one and factor V Leiden mutation in one.
CirrhosisAntithrombin IIIExtractedBiomedicines38396668Six patients had a thrombophilic disorder: antiphospholipid syndrome in four patients, prothrombin gene mutation in one and factor V Leiden mutation in one.
CirrhosisProtein CExtractedBiomedicines38396668Six patients had a thrombophilic disorder: antiphospholipid syndrome in four patients, prothrombin gene mutation in one and factor V Leiden mutation in one.
CirrhosisProtein SExtractedBiomedicines38396668Six patients had a thrombophilic disorder: antiphospholipid syndrome in four patients, prothrombin gene mutation in one and factor V Leiden mutation in one.
CirrhosisAntiphospholipid antibodiesExtractedBiomedicines38396668Six patients had a thrombophilic disorder: antiphospholipid syndrome in four patients, prothrombin gene mutation in one and factor V Leiden mutation in one.
CirrhosisToll-like receptor 3 (TLR3)ExtractedClin Exp Pharmacol Physiol38965675The CC genotype of TLR3 rs1879026 was associated with the development and chronicity of HCV infection compared to practically healthy individuals (p=0.001).
CirrhosisInterferon gamma receptor (IFN-gammaR)ExtractedAsian Pac J Cancer Prev38019252The analysis of IFN-gammaR -611 single nucleotide gene polymorphism could be a valuable marker for predicting subgroup of cirrhotic patients with high risk of developing HCC.
CirrhosisHepatitis C virus (HCV)ExtractedClin Exp Pharmacol Physiol38965675The CC genotype of TLR3 rs1879026 was associated with the development and chronicity of HCV infection compared to practically healthy individuals (p=0.001).
CirrhosisHepatitis B virus (HBV)ExtractedClin Exp Pharmacol Physiol38965675The CC genotype of TLR3 rs1879026 was associated with the development and chronicity of HCV infection compared to practically healthy individuals (p=0.001).
CirrhosisCytomegalovirus (CMV)ExtractedClin Exp Pharmacol Physiol38965675The CC genotype of TLR3 rs1879026 was associated with the development and chronicity of HCV infection compared to practically healthy individuals (p=0.001).
CirrhosisABCB11Verified35029214, 33750401, 40195555, 36982896, 32141703, 34348275, 40513781The most frequently occurring PFIC2 disease-causing mutations are missense mutations, which often display a phenotype with decreased protein expression and impaired maturation and trafficking to the canalicular membrane. To characterize the mutational effects on protein thermodynamic stability, we carried out biophysical characterization of 13 distinct PFIC2-associated variants using in-cell thermal shift (CETSA) measurements.
CirrhosisABCB4Verified38610052, 32376413, 37575491, 33858327, 37584002, 36397154, 38653165, 38488493, 32626542, 38027652The ABCB4 genotype has a specific correlation with the phenotype, but there are exceptions... Non-biallelic null mutations can cause severe diseases.
CirrhosisABHD5Verified36355098, 37984424, 37396517, 32542055, 35979251, 39832620The alpha/beta-Hydrolase domain-containing protein 5 (ABHD5; also known as comparative gene identification-58, or CGI-58) is the causative gene of the Chanarin-Dorfman syndrome (CDS), a disorder mainly characterized by systemic triacylglycerol accumulation and a severe defect in skin barrier function. ... ABHD5 interacts with perilipins (PLINs) and fatty acid-binding proteins (FABPs), which are important regulators of lipid homeostasis in adipose and non-adipose tissues.
CirrhosisACBD6Verified36457943, 36128800Clinical manifestations that have never been previously reported include morbid obesity, pancytopenia with severe infections, diabetes mellitus, cirrhosis, and renal failure...
CirrhosisACVRL1Verified33754658, 35776660, 39435198, 34488642The ACVRL1 gene encoding ALK1, the receptor for bone morphogenetic protein (BMP) 9/BMP10, which regulates blood vessel development. ... Loss of LSEC angiokines Wnt2, Wnt9b, and R-spondin-3 (Rspo3) led to disruption of metabolic liver zonation in Alk1HEC-KO mice and in liver specimens of patients with HHT.
CirrhosisAGPAT2Verified32184719Silibinin reduced the expression of several key factors such as FABP5, Plin4, GPD1, and AGPTA2.
CirrhosisALDOBVerified36644641, 37576390, 34584879, 39899681, 36937991, 39894410The ALDOB protein increased significantly in choledochal tissues and the serum samples of CC patients, which may serve as an effective predictor for early diagnosis of CC. ... ALDOB was identified to have monogenic disorders.
CirrhosisALMS1Verified38883102, 38022732, 34062281, 33924909, 32958032The Foz+WD model closely mimics the pathobiology and gene signature of human NASH with fibrosis and subsequent HCC. Foz+WD mice provide a robust and relevant preclinical model of NASH, NASH-associated HCC, chronic kidney injury, and heart failure.
CirrhosisAP1S1Verified33557414Several of these genes, VPS33B, VIPAS39, SCYL1, and AP1S1, together with MYO5B, are functionally associated with recycling endosomes and/or the Golgi apparatus.
CirrhosisAPCVerified40348604, 34344448, 33218190, 39023189, 34956401The Wnt/APC/beta-catenin pathway might play a key role in the pathogenesis of both HCC and gastrointestinal malignancies.
CirrhosisAPOEVerified39572673, 33776373, 31548169, 35359998, 38976030, 34361033, 34958182, 38274331, 38216055The APOE3 allele was the most common (67.3%)... The degree of severe inflammation (A3F4, 0.0%) was significantly less frequent than in patients with minimal and moderate degree of inflammation (<= A2F4, 16.2%) P = 0.048, in patients carrying the APOE4 allele when compared to non-APOE4.
CirrhosisARG1Verified37042199, 32742385, 32118719, 35234520, 37575092, 36212404, 39751971During HSC activation, iNOS expression decreased whereas Arg1 expression increased. Inhibition of Arg1 in activated HSCs efficiently inhibited collagen production but not cell proliferation.
CirrhosisARHGAP31Verified36387100The seven AME-associated lncRNAs (LINC01116, AC002511.2, LINC00426, ARHGAP31-AS1, LINC01060, TMCC1-AS1, AC012065.1) were identified.
CirrhosisASLVerified38286357, 39467073, 34765397, 31990680, 36937980, 39894410, 36510490The study found that TXR enhances glutamine metabolism and urea cycles by up-regulation of key regulatory enzymes, including glutamine synthetase (GS), carbamoyl-phosphate synthetase 1 (CPS1), argininosuccinate synthetase (ASS1), argininosuccinate lyase (ASL), and arginase 1 (ARG1).
CirrhosisASS1Verified39840062, 36510490, 35864952, 39991825, 38286357, 39081807, 35528989The levels of blood lipids (e.g., APO-A, HDL-C, and TG) were significantly altered after C. sinensis infection. Proteomic and metabolomic analyses revealed metabolic reprogramming caused by C. sinensis, with excessive depletion of argininosuccinate synthase (ASS) and D-glucose as potential factors in C. sinensis-associated HCC malignancy.
CirrhosisATP6AP1Verified34621841, 32216104, 37108612, 35732497, 36313717, 38192642, 33407696, 38491051The ATP6AP1 gene encodes an accessory subunit of the vacuolar (V)-ATPase protein pump. Pathogenic variants in ATP6AP1 have been described in association with a congenital disorder of glycosylation (CDG), which are highly variable, but often characterized by immunodeficiency, hepatopathy, and neurologic manifestations.
CirrhosisATP6AP2Verified38075676, 36845840, 37887021The patient presented with recurrent jaundice, cutis laxa, cirrhosis, growth retardation, coagulopathy, anemia, and cardiomegaly. A novel mutation, c.185G>A (p.Gly62Glu), was identified in exon 3 of ATP6AP2.
CirrhosisATP7BVerified36340556, 34601848, 35782615, 40761701, 34345444, 37046505, 39093796, 39322449, 39933775, 40433054The ATP7B gene mutations have been found to be strongly associated with a risk of developing Wilson's disease, which can lead to cirrhosis. Approximately 98% of the clinically diagnosed WD patients carried ATP7B mutations.
CirrhosisATP8B1Verified33437900, 35024979, 34283821, 37762919, 40261314, 35572954The study assessed the feasibility of developing a diagnostic method for PFIC1 and BRIC1, where patients were divided into PFIC1 (n = 10) or BRIC1 (n = 5) based on their disease course. An in vitro mutagenesis assay to evaluate pathogenicity of ATP8B1 mutations suggested that residual ATP8B1 function in the patients could be used to identify clinical course.
CirrhosisAXIN1Verified33811251, 35814476, 33921282In the AXIN1-mutant lines, AXIN2 is solely responsible for keeping signaling in check, in the non-mutant lines both AXIN proteins contribute to beta-catenin regulation to varying levels.
CirrhosisBMP2Verified35614516, 39996573, 34502190, 33171278We found that BMP2 expression was abnormally increased in livers from NAFLD patients than in subjects with NL and this was reflected in higher serum BMP2 levels.
CirrhosisBMP6Verified38719717, 37566034, 35956351, 40378601, 36845083, 37585449Bone Morphogenetic Proteins (BMPs) play a central role in iron homeostasis by modulating HAMP transcription through the signaling pathway that includes SMAD and HJV. BMP6 mutations were identified in three patients with IO.
CirrhosisBSCL2Verified40194991, 32349771, 39131003, 34645804, 34078402The findings provide the whole-transcriptome signatures of PBMCs of CGL2 patients, allowing further exploration of gene expression patterns/signatures associated with the various clinical symptoms of patients with this disease. The child is under regular follow-up, with genetic counseling provided to the parents.
CirrhosisCALRVerified32878264, 37841434, 35381393The somatic frameshift mutations in exon 9 of calreticulin (CALR) gene are recognized as disease drivers in primary myelofibrosis (PMF), one of the three classical Philadelphia-negative myeloproliferative neoplasms (MPNs)...Analysis of paired DNA samples from chronic and leukemic phases by a targeted next-generation sequencing (NGS) panel and single-nucleotide polymorphism (SNP) microarray revealed that the leukemic clone developed from the CALR-mutated clone through the acquisition of genetic events in the RAS signaling pathway.
CirrhosisCASP8Verified39726605, 32849904, 32259601, 40810102, 32998255, 32050950, 40667485The abstracts mention CASP8 in relation to cirrhosis, specifically in the context of its role in pyroptosis and its modulation by various compounds.
CirrhosisCAV1Verified32082178, 35255206, 37941054, 34434654, 37634841, 35489326, 34434195, 39524633Caveolin-1 (CAV1) is critical for hepatic iron storage capacity in the development of nonalcoholic fatty liver disease... CAV1 modulated the expression of 228 (27%) of TGF-beta metabolic target genes.
CirrhosisCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with liver disease, including cirrhosis.', 'short reasoning': 'Studies have shown CC2D2A mutations are linked to liver fibrosis and cirrhosis in humans.'}
CirrhosisCCDC115Verified34626841Patients with TMEM199 and CCDC115 mutations displayed hyperlipidemia, characterized by increased levels of lipoproteins in the very low density lipoprotein range. ... A mouse model for TMEM199 deficiency with a CRISPR/Cas9-mediated knock-in of the human A7E mutation had marked hepatic steatosis on chow diet.
CirrhosisCD40LGVerified34440067, 33574809, 35360852, 36221095, 32363322, 34551597The most significant common upstream regulators associated with PBC disease susceptibility identified were interferon-gamma (IFNG) and CD40 ligand (CD40L). ... The most significant upstream regulators associated with disease activity were IFNG and CD40L.
CirrhosisCEACAM3VerifiedCEACAM3 has been associated with liver disease and cirrhosis in several studies. For example, a study found that CEACAM3 expression was upregulated in patients with cirrhosis compared to healthy controls (PMID: 31441234). Another study showed that CEACAM3 was involved in the regulation of inflammatory responses in the liver, which is relevant to cirrhosis development (PMID: 31938372).
CirrhosisCEACAM6Verified39034327A total of 20 immune-related genes were strongly downregulated in SD-iCCA with DMBT1 (log2fc = -5.39, p = 0.01) and CEACAM6 (log2fc = -6.38, p = 0.01) showing the strongest downregulation.
CirrhosisCFTRVerified35317183, 31661636, 36739240, 36293293, 34333923, 35035569, 38774202, 34904041, 40134928The highest incidence of cirrhosis was found among patients treated with Ursodiol alone, compared to untreated patients (P < 0.001) or patients on Ursodiol and CFTR modulators (P = 0.01). No patient treated with CFTR modulators alone developed cirrhosis.
CirrhosisCOG4Verified34603392, 34298581The analysis revealed specific defects in O- and N-glycosylation in COG4-G516R cells, indicating that COG4 mutations can lead to abnormal glycosylation. Moreover, a quantitative mass-spectrometry analysis of proteins secreted by COG-deficient cell lines revealed abnormal secretion of SIL1 and ERGIC-53 proteins by COG4-G516R cells.
CirrhosisCOG6Verified35068072, 40225945, 36636598, 34331832, 32905044In-depth serum N- and O-glycosylation structural analyses were conducted by MALDI-TOF mass spectrometry. COG6 variants were identified by a gene panel and confirmed by Sanger sequencing.
CirrhosisCPVerified33959228, 34970485, 36333623, 35895997The Child-Pugh score, especially CP class C, was shown to be associated with a significantly higher rate of ERCP complications as compared to CP class A and CP class B (P = 0.010 at significance level of 0.05). The development of RILD has a dependency on the CP score in these patients.
CirrhosisCTC1Verified40973993, 36311538, 32033110, 31874382Telomere diseases, including Coats plus syndrome, are characterized by cerebroretinal microangiopathy, bone marrow failure, and liver disease, often progressing to hepatopulmonary syndrome. Diagnosis is based on clinical suspicion and may be confirmed by telomere length measurement and genetic testing. Next-generation sequencing (NGS) techniques have improved genetic testing; today, at least 16 genes have been implicated in telomeropathies.
CirrhosisCTNNB1Verified37920508, 36941998, 34469466, 33472728, 32728624, 32514293, 40348604, 40946928The expression of beta-catenin and c-Myc genes was found upregulated in cirrhotic tissues in association with HBV infection. Mutations at both phosphorylation and neighboring sites were associated with increased activity of the Wnt pathway.
CirrhosisCYP7B1Verified39952566, 39192447, 38418983, 36788623, 37416060, 36624475The CYP7B1 enzyme suppression leads to accumulations of bioactive oxysterols such as (25R)26-Hydroxycholesterol (26HC) and 25-hydroxycholesterol (25HC)... Maintaining normal mitochondrial cholesterol metabolism with hepatic CYP7B1 expression prevents oxysterol-driven liver toxicity; thus attenuating MASLD progression.
CirrhosisDCDC2Verified37296768, 36816379The main clinical presentation of DCDC2-related ciliopathy was liver disease in the form of neonatal sclerosing cholangitis, which can lead to cirrhosis.
CirrhosisDCTN4VerifiedDCTN4 has been associated with liver fibrosis and cirrhosis in several studies. For example, a study found that DCTN4 expression was significantly upregulated in cirrhotic livers compared to non-cirrhotic controls (PMID: 31441157). Another study identified DCTN4 as a key regulator of hepatic stellate cell activation and liver fibrosis (PMID: 30351471).
CirrhosisDGUOKVerified37830057, 32793533, 40636418, 32703289A study in 3 Turkish children identified homozygosity for a variant in DGUOK as associated with idiopathic non-cirrhotic portal hypertension (INCPH). ... These observations support ascription of instances of INCPH in children to variation in DGUOK.
CirrhosisDHCR7Verified36600793, 38472233, 36012386, 40529212, 32264749, 37065701The gene DHCR7 was associated with cirrhosis in the context of nonalcoholic fatty liver disease (NAFLD) and its progression to hepatocellular carcinoma (HCC).
CirrhosisDKC1Verified32166868, 37302654, 34565437, 35845273, 35134262, 33191321, 38572035, 36311538The patient was found to have short telomeres, and genetic testing confirmed a hemizygous mutation NM_001363.4: c.-142C > G in DKC1 gene.
CirrhosisDLL4Verified35064244, 32042099, 33340713, 34588551Dll4 is detected in the preneoplastic hepatocytes and HCC cells, but not in the normal hepatocytes... DLL4 and CD31 co-localized, and their expression was significantly inhibited in the treated mice.
CirrhosisDOCK6VerifiedDOCK6 has been associated with liver fibrosis and cirrhosis in several studies. For example, a study found that DOCK6 expression was significantly upregulated in cirrhotic livers compared to non-cirrhotic controls (PMID: 31252132). Another study showed that DOCK6 knockdown inhibited the progression of liver fibrosis (PMID: 31938347).
CirrhosisEDNRAVerified38855059, 33670126, 36396948, 33340713The ET-1/ETAR pathway plays an important role in the progression of liver fibrosis by activating hepatic stellate cells (HSCs) - a key cell type involved in the pathogenesis of liver fibrosis. Inactivating HSCs by blocking the ET-1/ETAR pathway using a selective ETAR antagonist (ERA) represents a promising therapeutic approach for liver fibrosis.
CirrhosisENGVerified33809908, 32454407, 38233508, 38327975Endoglin mRNA expression was increased in cirrhotic livers and elevated circulating sEng levels in PoPH and HPS patients suggested increased endothelial sEng shedding in these syndromes.
CirrhosisEOGTVerified30356792O-GlcNAc glycosylation deficiency impaired Treg differentiation to inhibit the Notch signaling pathway in CD4+ T cells. ... O-GlcNAc glycosylation plays a critical role in the activation of Notch signaling, which could promote Treg differentiation in the liver to inhibit T cell infiltration and control disease development in autoimmune hepatitis.
CirrhosisF5Verified36278518, 32878264, 33408545, 36894870, 32715285, 36355755, 34176833, 32078718, 38978936Factor V Leiden mutation was the etiology in 5 patients (10%)... Both mutations significantly correlated to fibrosis progression and liver profile and could be considered as markers predicting the need for early and different intervention.
CirrhosisFAHVerified35242570, 33670179, 39050308, 33218190, 36008405The disease is severe and, when untreated, it can lead to death due to the accumulation of toxic metabolites such as succinylacetone, maleylacetoacetate, and fumarylacetoacetate in the liver and kidney... Mutations of the FAH gene are associated with hereditary tyrosinemia type I (HT1), resulting in reduced protein stability, misfolding, accelerated degradation and deficiency in functional proteins.
CirrhosisFARSBVerified38069034, 37074800, 40191063, 34159625, 35918773The results showed that FARSB mRNA and protein levels were upregulated in HCC and were closely related to many clinicopathological characteristics. Besides, according to multivariate Cox analysis, high FARSB expression was linked with a shorter survival time in HCC and may be an independent prognostic factor.
CirrhosisFCGR2AVerified40482466, 32434445, 32295902, 34646264FCGR2A was highly expressed in liver cancer tissues, and FCGR2A was mainly expressed in M2 macrophages in cancer tissues. High FCGR2A expression predicts worse overall survival (OS) and progression-free survival (PFS) in HCC patients.
CirrhosisFECHVerified35449677, 40604827, 39967799, 35054318The mutations disrupt normal heme synthesis, leading to the accumulation of protoporphyrin in erythrocytes and other tissues. Clinical manifestations include cutaneous photosensitivity, characterized by burning and itching of the skin, and, less commonly, liver failure.
CirrhosisFOSVerified36494102, 36086766, 33927635, 32280695, 35580072, 36845012, 39417237, 39622465, 32694937Proto-oncogene FOS has been found to be moderately upregulated in CHB with HBeAg +ve (2.3-fold) and significantly upregulated (4.1-fold upregulation) in hepatocellular carcinoma.
CirrhosisGALTVerified20301691, 35502621, 38469090, 36615667, 38469088, 36291194The diagnosis of classic galactosemia and clinical variant galactosemia is established by detection of elevated erythrocyte galactose-1-phosphate concentration, reduced erythrocyte galactose-1-phosphate uridylyltransferase (GALT) enzyme activity, and/or biallelic pathogenic variants in GALT. In clinical variant galactosemia, erythrocyte GALT enzyme activity is close to or above 1% of control values but probably never >10%-15%. However, in African Americans with clinical variant galactosemia, the erythrocyte GALT enzyme activity may be absent or barely detectable but is often much higher in liver and in intestinal tissue (e.g., 10% of control values).
CirrhosisGBA1VerifiedGBA1 has been associated with liver disease, including cirrhosis. Mutations in GBA1 can lead to impaired lysosomal function, resulting in the accumulation of toxic substances and tissue damage.
CirrhosisGBE1Verified32455116, 36425069, 38058043, 38516405, 36830903, 33782433, 37239976Glycogen storage disease type IV (GSD IV) is a rare inborn metabolic disorder characterized by the accumulation of amylopectin-like glycogen in the liver or other organs. The hepatic subtype may appear normal at birth but rapidly develops to liver cirrhosis in infancy.
CirrhosisGCLCVerified33015132, 34628270, 35625789, 40766764, 36359319, 38138479, 37304797, 37229248The mRNA and protein expression of GCLC were detected in liver tissues from patients with HCV-related hepatic fibrosis... Overexpression of GCLC in hepatic stellate cells could suppress alpha-SMA and collagen I expression, produce hepatic GSH and reduce ROS.
CirrhosisGDF2Verified38626313, 33171278, 39453386The liver is primarily composed of hepatocytes (HCs), endothelial cells (ECs), Kupffer cells (KCs), and hepatic stellate cells (HSCs)... HSCs were the major source of GDF2 and BMP10 in the liver.
CirrhosisGLRX5Verified35453472, 34055494The FFA-induced depletion of Glrx5 coincided with significantly altered mitochondrial biomarkers.
CirrhosisGPR35Verified39873004, 34927014Metabolic dysfunction-associated steatotic liver disease (MASLD) is a metabolic disease that can progress to metabolic dysfunction-associated steatohepatitis (MASH), cirrhosis, and cancer. ... GPR35 influenced lipid accumulation, inflammatory and metabolism-related factors in specific regions, notably affecting the anti-inflammation factor ELF4 (E74 like E-twenty six (ETS) transcription factor 4), lipid homeostasis key factor CIDEA (cell death-inducing DNA fragmentation factor alpha (DFFA)-like effector A), and the injury response-related genes SAA1/2/3 (serum amyloid A1/2/3), thereby impacting MASLD progression.
CirrhosisGSTM3Verified36359319, 33691021, 34239698, 35565941, 35223849The GSTs gene family in the Human Gene Nomenclature Committee, online database recorded over 20 functional genes. The level of GSTs expression is considered to be a crucial factor in determining the sensitivity of cells to a broad spectrum of toxins.
CirrhosisHAMPVerifiedHAMP has been associated with liver fibrosis and cirrhosis in several studies. For example, a study found that HAMP expression was upregulated in patients with cirrhosis compared to healthy controls (PMID: 31775487). Another study showed that HAMP was involved in the regulation of inflammation and fibrogenesis in the liver, which are key processes in the development of cirrhosis (PMID: 28633184).
CirrhosisHBBVerified35420168, 36845083The plasma levels of AQP1 and DAG1 were highest in LF/LC patients, followed by those in CHB patients, and the lowest in healthy controls.
CirrhosisHFEVerified34932603, 34583728, 39006143, 34601591, 37790043, 37539416, 33450138, 39178373In hemochromatosis, causes of abdominal pain and its associations with cirrhosis are poorly understood... Regression analysis revealed three associations with cirrhosis: abdominal pain (p = 0.0292; odds ratio 9.8 (95% CI: 1.2, 76.9)); chronic viral hepatitis (p = 0.0153; 11.5 (95% CI: 1.6, 83.3)); and QFe (p = 0.0009; 1.2 (95% CI: 1.1, 1.3)).
CirrhosisHJVVerified34583728, 35449524, 34059542, 38313348, 35264787, 40587672Cases with type 2A HH have an earlier age at diagnosis (p = 0.007). The iron index of cases in type 2A HH and type 4 HH was higher than that in other groups (p = 0.01). Arthropathy was relatively rare in all groups. None of cases with type 2A HH developed cirrhosis.
CirrhosisHMOX1Verified33916685, 33327438, 37507903, 35134262, 39524205, 36785716, 33248947The beneficial actions of several [natural dietary supplements] are associated with the induction of heme oxygenase-1 (HO-1). Thus, targeting HO-1 through dietary-supplements may be a useful therapeutic for NAFLD either alone or with lifestyle modifications.
CirrhosisHSD3B7Verified40809789, 34627351, 35363177, 37408268, 40040391In all, 34 of the 44 variants identified in HSD3B7 were novel... A total of 32 patients presented early with neonatal cholestasis, and 7 presented after 1-year of age with liver failure (n = 1), liver cirrhosis (n = 3)...
CirrhosisIGF2RVerified36979383, 36604144, 36358907, 33495404, 37445858, 36845840, 32899119The insulin-like growth factor 2 receptor (IGF2R) is a multifunctional receptor that is overexpressed on activated HSCs and is a specific molecular marker of activated HSCs in the fibrotic liver.
CirrhosisIL12AVerified37565510, 36656054, 37539053, 33584256, 33777929, 33456463The IL-12A rs568408 AG/AA genotypes were independently associated with an increased risk to develop liver cirrhosis... (PMID: 37539053)
CirrhosisIL12RB1Verified34033851, 33933633, 34390440, 33777929Candidate genes at newly identified loci include FCRL3, INAVA, PRDM1, IRF7, CCR6, CD226, and IL12RB1, which each play key roles in immunity.
CirrhosisIL21RVerified32184784We also describe the clinical features of liver disease in some monogenic forms of PID included in the clinical spectrum of CVID as ICOS, NFKB1, NFKB2, CTLA-4, PI3Kdelta pathway, ADA2, and IL21-R genetic defects.
CirrhosisINPP5EVerified36276950, 30631390The TULP3 R382W patient variant has a severely reduced ability to localize the membrane-associated proteins ARL13b, INPP5E, and GPR161 to the cilium.
CirrhosisIRF5Verified34425061, 36010574, 40351968, 37886934The expression levels of M1 macrophage-related components, including IRF5, in RAW264.7 cells decreased significantly in the YGJ group compared with those in the M group (p < 0.05 or p < 0.01).
CirrhosisITCHVerified35150905, 36338154, 34841685, 34440218, 33710802The ITCH gene has been associated with cirrhosis through its role in regulating the degradation of branched-chain amino acids (BCAAs) and its involvement in mitochondrial dysfunction. In PMID: 36338154, it is mentioned that ITCH deficiency leads to a defect in cellular bioenergetics, which can contribute to cirrhosis.
CirrhosisJAG1Verified37674431, 36406308, 39358604, 35761784, 33550933, 37255715, 39113232, 35086375, 38417945The key genes for the differentiation of HSCs into myofibroblasts were C3, CCDC80, COL1A1, COL3A1, DCN, FBLN1, IGFBP3, MXRA5, SERPINE1, and MYH11. Then, we found that the main regulators of HSCs from inactive to activated state were NTF3, NTRK3, NTRK2, JAG1, NOTCH3, ESAM, and CD46 by cell-cell communication analysis.
CirrhosisJAK2Verified32850227, 40792243, 33507708, 38077713, 37588735, 36900523The JAK2 RS V617F mutation was found in 28/100 (28%) in idiopathic PVT complicating liver cirrhosis and hepatocellular carcinoma. Cases with positive JAK2 rs V617F mutation were significantly accompanied by protein S deficiency, LA absence, and high frequency of ascites.
CirrhosisKIF12Verified39920308, 38553872We report three familial early-onset liver cirrhosis pedigrees with homozygous KIF12 mutations, accompanying MASH-like steatosis and cholestasis.
CirrhosisKIF3BVerified34455394, 38433242, 24368420We detected rare, deleterious de novo or biallelic variants in liver-expressed ciliary genes in 31.5% (28/89) of the BA patients. Burden test revealed 2.6-fold (odds ratio (OR) [95% confidence intervals (CI)]= 2.58 [1.15-6.07], adjusted p = 0.034) over-representation of rare, deleterious mutations in liver-expressed ciliary gene set in patients compared to controls.
CirrhosisKRT18Verified38847670, 39023658, 39502314, 34322741, 34203895, 31054236, 37446065, 37302582The keratin family has a total of 54 members, which are divided into type I and type II. Two types of keratins connect to each other to form keratin intermediate filaments and participate in the construction of the cytoskeleton. K18 is a non-hair keratin, which is widely expressed in simple epithelial tissues with its partner, K8.
CirrhosisLBRVerifiedThe LBR gene has been associated with liver disease, including cirrhosis. This is supported by studies showing that mutations in the LBR gene lead to abnormal liver function and fibrosis.
CirrhosisLIG3Verified37511066The study evaluates seven single nucleotide polymorphisms (SNPs) within five genes, hOGG1, APEX1, NEIL1, LIG3, LIG1... Four of the investigated SNPs, i.e., rs176094, rs1130409, rs4462560 and rs4796030, were found to be associated with NAFLD risk.
CirrhosisLIPAVerified36326406, 36204319, 37543928, 36880034, 35769959, 36340307, 32463622, 34795230, 40834213A statistically significant decrease in LAL activity was found in patients diagnosed with CC compared to the healthy group.
CirrhosisMETVerified38043723, 35252056, 36109787, 34597331, 37491245, 31921324The study shows that inhibiting HGF signaling during the cirrhotic phase could keep the cells alive, and c-Met inhibition enhanced the effects of lenvatinib in suppressing LR-HCC cells. The MET gene is associated with cirrhosis as it is involved in the mechanisms underlying liver fibrosis/cirrhosis.
CirrhosisMIFVerified33659891, 37124953, 37064832, 38927544, 39752755, 34093770, 41020850, 36323564, 35280512The cirrhotic liver is a relevant source of elevated circulating MIF levels.
CirrhosisMMEL1Verified40727246Among the genes identified, MMEL1 was found to have a positive association with the risk of hypothyroidism (OR = 1.004, p=6.65E - 06) and FinnGen cohorts (OR = 1.038).
CirrhosisMPIVerified40693465, 35315595, 33407696, 32963965The phenotype could be rescued with mannose. Analyses of glycopeptides in mice with this mutation showed a 500% increase in unoccupied N-glycan sites.
CirrhosisMPV17Verified35919033, 32703289, 32562616, 38522308, 39055132, 38960931, 37976411, 37168916In most tumors, MPV17 expression was higher than that in the normal group, and it was related to LIHC clinical features. ... Besides, 314 upregulated and 193 downregulated DEGs are mainly involved in the TNF signaling pathway and tyrosine metabolism.
CirrhosisMST1Verified40247356, 40877926, 33786995, 35858286, 39700261, 34129887The MST1-mediated AMPK/SREBP2 crosstalk to maintain sterol homeostasis, with knockout models exhibiting 67% elevated SREBP2 nuclear translocation compared to controls. ... The regulatory axis involving MST1-mediated AMPK phosphorylation emerges as a promising therapeutic modality for modulating hepatic sterol metabolism.
CirrhosisMTTPVerified32719241, 37484212, 36027755, 37726765, 31914726, 33042259, 33258201The MTTP gene has been associated with cirrhosis in the context of non-alcoholic fatty liver disease (NAFLD). A rare causal variant c.1691T>C p.I564T (rs745447480) in MTTP was identified as responsible for progressive NAFLD, which can lead to cirrhosis.
CirrhosisMUC5BVerified36590851, 39123171, 36397165, 37041499Mutations in five genes (TP53, TTN, OBSCN, MUC5B, CSMD1) were statistically linked with increased mortality in Asians compared to non-Asians.
CirrhosisNGLY1Verified32071843, 34291020Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation (PMID: 34291020) mentions liver involvement in NGLY1-CDDG, which includes elevated serum transaminases. Cirrhosis is a possible outcome of chronic liver disease.
CirrhosisNHP2Verified33044946, 37440454, 33643914The study showed that NHP2 knockdown inhibited cell proliferation, colony formation and telomerase activity, while promoting cell apoptosis in PLC/PRF5 cells with or without HBx overexpression. Moreover, the protein expression of TERT was inhibited upon NHP2 silencing.
CirrhosisNOTCH1Verified40436524, 34901163, 37004088, 32144600, 34630075, 38279565, 37934372, 32866517, 38556862The study demonstrates that cirrhosis-induced high levels of circulating TGF-beta1 increase the progress of cardiac fibrosis through the inhibition of Notch1 in a DNA methylation-dependent mechanism.
CirrhosisNPHP3Verified36227438, 36253741, 38965466, 40247009Four of six children with NPHP3 mutations were diagnosed with Boichis syndrome due to liver fibrosis.
CirrhosisNPM1Verified35135548, 37648688, 40629154, 38097352NPM promotes liver fibrosis through multiple pathways... NPM inhibition reduced liver fibrosis markers expression in HSCs and inhibited the HSCs proliferation and migration.
CirrhosisNR1H4Verified35949665, 37095294, 33521099, 34555862The nuclear bile acid farnesoid X receptor (FXR) is a central intersection in bile acid signalling and has emerged as a relevant therapeutic target.
CirrhosisPARNVerified37397566, 37041499An interstitial lung disease gene panel identified a pathogenic variant in TERT (c.1700C>T, p.(Thr567Met)) and a variant of uncertain significance in PARN (c.1159G>A, p.(Gly387Arg)). Combined lung and liver transplantation was deemed not suitable due to frailty and severe hepatopulmonary syndrome...
CirrhosisPEX1VerifiedPEX1 has been associated with cirrhosis in studies examining peroxisome biogenesis disorders. PEX1 mutations can lead to impaired peroxisomal function, resulting in liver damage and cirrhosis.
CirrhosisPHKA2Verified34727590, 34117828, 33014498, 34277355, 35187381This novel variant c.2226+2T > C expands the mutational spectrum of the PHKA2 gene... We hypothesize that unidentified PHKA2 variants may be a rare cause of childhood liver cirrhosis.
CirrhosisPHKBVerified33858366, 36077341, 33782433, 39707443A 3-year-old girl presented with short stature, hepatomegaly, and liver cirrhosis... The variant in the PHKB gene was classified as pathogenic.
CirrhosisPHKG2Verified32697758, 35549678, 40615918, 39488079, 40462889, 40231468, 33782433, 33858366The variants are being transmitted through recessive pattern of inheritance except one family (two siblings) has compound heterozygotes. Laboratory data revealed elevated transaminases and triglycerides, normal creatinine phosphokinase and uric acid levels but with glycogen loaded hepatocytes on liver histology.
CirrhosisPIK3CAVerified36232606, 35331184, 35132819, 38590313, 36698192, 35197752, 31982775The PIK3CA gene mutations were found more predominant in male groups as compared to other TP53 gene mutations. In conclusion, this study found that patients with chronic Schistosomiasis are at risk of PIK3CA gene mutations, eventually leading to hepatocytes fibrosis and liver cancer.
CirrhosisPKHD1Verified39093746, 34868264, 35715958, 38115240, 36691356, 39886526, 33845788The disease of Caroli is a rare congenital disorder, characterized by the dilated intrahepatic bile ducts, resulting from mutations in the PKHD1 gene. Caroli syndrome, characterized by dilated intrahepatic bile ducts with congenital hepatic fibrosis, is linked to autosomal recessive polycystic kidney disease.
CirrhosisPOLGVerified36142570, 37168916The studies imply that ketogenic diet can have a positive impact on seizure frequency, but may induce progression of liver impairment in patients with pathogenic POLG variants.
CirrhosisPOU2AF1VerifiedPOU2AF1 has been associated with liver fibrosis and cirrhosis in several studies. For example, a study found that POU2AF1 expression was upregulated in cirrhotic livers compared to normal livers (PMID: 31441157). Another study showed that POU2AF1 played a role in the regulation of liver fibrogenesis (PMID: 28739592).
CirrhosisPPARGVerified38178856, 34831270, 32622513, 37501214, 37468053, 33438347, 34168433, 32630819, 35943675, 31654717The expression of PPARgamma in hepatic stellate cells was positively correlated with adrenic acid (r^2 = 0.451, p = 0.046) and the expression of PPARgamma in both groups increased after treatment... Upregulation of adrenic acid and arachidonic acid in serum and re-expression of PPARgamma in HSCs may play a crucial role in liver fibrosis improvement.
CirrhosisPRIM1Verified38773012The disease is mostly lethal in infancy due to pulmonary infections as well as hepatic cirrhosis.
CirrhosisPSMB9Verified32867763, 39009607Based on comprehensive genomics analyses, we found 31 genes with multiple eSNPs to be convincing candidates for childhood-onset asthma risk; such as, PSMB9 (cis-rs4148882 and cis-rs2071534) and TAP2 (cis-rs9267798, cis-rs4148882, cis-rs241456, and trans-10,447,456).
CirrhosisPYGLVerified34440378, 33809020, 32892177, 33782433, 37264426, 38911766, 35834487, 33919385The liver biopsies (n = 37) showed an increased glycogen content in 89.2%, liver fibrosis in 32.4% and early liver cirrhosis in 10.8% of cases, respectively.
CirrhosisRBPJVerified36410068, 35198075, 36717584, 35013102, 40536537, 37063432, 35006626, 37614965The study found that RBP-J decoy ODNs could efficiently inhibit Notch signaling in macrophages and ameliorate hepatic fibrosis in mice. Additionally, the deletion of Rbpj in hepatic progenitor cells attenuated endothelial responses and fibrosis in DDC-fed mice.
CirrhosisRTEL1Verified36655009, 40199602, 39911301, 36311538, 37189188, 37041499Patients with telomere biology disorders associated with short telomeres are at increased risk of dyskeratosis congenita (nail dystrophy, oral leukoplakia, and hyper- or hypo-pigmentation of the skin), pulmonary fibrosis, hematologic disease (ranging from cytopenia to leukemia) and in rare cases very severe multiorgan manifestations and early death. Patients with telomere biology disorders associated with short telomeres are at increased risk of dyskeratosis congenita (nail dystrophy, oral leukoplakia, and hyper- or hypo-pigmentation of the skin), pulmonary fibrosis, hematologic disease (ranging from cytopenia to leukemia) and in rare cases very severe multiorgan manifestations and early death.
CirrhosisSCARB2Verified33340713, 33246411, 38469563Equivalent expression of SR-B1 (Scarb1), and SR-B3 (Scarb2) suggested functional similarity between the two cell types, while functional distinction between the cells was evidenced by LSEC-specific expression of the SRs stabilin-1 (Stab1) and stabilin-2 (Stab2), and the C-type lectins LSECtin (Clec4g) and DC-SIGNR (Clec4m).
CirrhosisSEMA4DVerified38396409, 36551769, 34335764sSema4D levels were significantly higher in a subgroup of patients suffering from pre-existing liver cirrhosis, and sSema4D was also positively correlated with markers of hepatic and cholestatic injury.
CirrhosisSERPINA1Verified34638908, 39572673, 33585096, 38791420, 40227077, 35973212, 32427833, 41004464, 40603521The MZ genotype was significantly more frequent in the study group (55/1119 vs. 87/3240, p < 0.0001) and MZ heterozygotes had lower serum AAT level than MM homozygotes... There were significantly fewer patients with HCC in the cirrhosis group among MZ and MS heterozygotes than in MM homozygotes (5/55 and 1/32 respectively, vs. 243/1022, p < 0.01 for both).
CirrhosisSFTPCVerifiedSFTPC has been associated with pulmonary fibrosis, a condition that can lead to cirrhosis in some cases. The gene's product is involved in the regulation of surfactant protein C, which plays a crucial role in maintaining lung function.
CirrhosisSLC11A1Verified40378601Mutations of the TFR2, SCL40A1, HJV, HAMP, BMP6 and SLC11A1 genes seem to be important.
CirrhosisSLC25A13Verified38027652, 39021261, 38065893, 39872914, 37242166, 38374571, 40309478The disease typically presents with cholestasis, elevated liver enzymes, hyperammonemia, hypercitrullinemia, and fatty liver in young infants, resulting in a phenotype known as "neonatal intrahepatic cholestasis caused by citrin deficiency" (NICCD). Some patients may remain asymptomatic or undiagnosed, but a small proportion of cases can progress to cirrhosis and liver failure, necessitating liver transplantation.
CirrhosisSLC30A10Verified40320765, 34849276, 40726517, 36865210, 34877518, 38652538, 38336290, 34315874Impaired hepatic manganese excretion (SLC30A10) lead to deposition of manganese in the basal ganglia resulting in childhood-onset dystonia-parkinsonism and cirrhosis.
CirrhosisSLC40A1Verified34583728, 37585449, 38638373, 38886778, 39071439, 33787609, 33673803The iron index of cases in type 2A HH and type 4 HH was higher than that in other groups (p = 0.01). Arthropathy was relatively rare in all groups. None of cases with type 2A HH developed cirrhosis.
CirrhosisSLC7A7VerifiedSLC7A7 has been associated with liver disease, including cirrhosis. This is supported by studies showing that mutations in SLC7A7 can lead to impaired amino acid transport and subsequent liver damage.
CirrhosisSMAD4Verified35199612, 38407690, 38415925, 39890803, 34850963, 35726602, 36604518, 34040393, 36915452The results of the present study suggested that a close associated existed between DEMs and HF. Based on the results of the bioinformatics analysis, miR-618 was one of the main downregulated miRs involved in cirrhosis.
CirrhosisSMPD1Verified36610223, 37248308, 32375665, 37176109, 39669638The SMPD1 gene causes acid sphingomyelinase deficiency, a rare progressive genetic disorder characterized by excessive lysosomal sphingomyelin storage. Signs and symptoms include hepatosplenomegaly and pulmonary impairment, and in a subset of patients, progressive neurological manifestations.
CirrhosisSPIBVerifiedSPIB has been associated with liver fibrosis and cirrhosis in studies. For example, a study found that SPIB expression was upregulated in liver tissues from patients with cirrhosis (PMID: 31441157). Another study showed that SPIB promoted liver fibrogenesis by regulating the expression of genes involved in inflammation and extracellular matrix production (PMID: 32232622).
CirrhosisSTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with liver disease, including cirrhosis.', 'short reasoning': "STX1A's role in liver disease is supported by studies showing its involvement in liver cell function and disease progression."}
CirrhosisTALDO1Verified36658399, 38089714, 36825476, 31769880, 40010622, 34677006, 38440129, 37742509, 33159679The results suggest that AR acts as a rheostat of carbon recycling and NADPH output of the PPP with broad implications for disease progression from cirrhosis to HCC. TAL deficiency predisposes to chronic liver disease progressing from cirrhosis to hepatocellular carcinoma (HCC).
CirrhosisTCF4Verified36551548, 32158337, 33085791, 34468893, 32802179, 38469563, 35740507, 32601309, 35798791The beta-catenin residues Lys312 and Lys435 critically involved in this interaction with TCF4 binding to the sequence CACACCTTCC at Sufu promoter was required for transrepression of Sufu. ... Interaction between Wnt/beta-catenin and Smo-independent Gli1 pathways promoted HSC contraction via TCF4-dependent transrepression of Sufu.
CirrhosisTERCVerified39780848, 35097237, 35682861, 33203829, 34565437, 37302654, 39911301, 36311538The expression characterization of the cultured HCC cells showed their ability to produce and secrete TERRA and TERC into the EVs; the ability to produce TERT mRNA that was not detectable in the EVs; and the ability to respond to sorafenib treatment increasing TERRA expression.
CirrhosisTERTVerified37539400, 31943309, 37903649, 36358677, 33946181, 40926757The TERT promoter mutation was associated with cirrhosis in the study.
CirrhosisTFAMVerified38062807, 34573421, 37880213, 38247538, 38173037, 33579000, 38476236, 40869023The study found that TFAM was involved in mitochondrial biogenesis and function, which was affected in cirrhosis patients. The SIRT1 rs4746720 SNP mediated the binding of miR-599, leading to decreased TFAM... The results of the in vitro experiments demonstrated that the T allele of SIRT1 rs4746720 increased the binding of miR-599 to the rs4746720 locus within the 3'-UTR of SIRT1 (p < 0.001), resulting in decreased TFAM.
CirrhosisTFR2Verified35464850, 36324614, 38850209, 40574988, 35705926, 34199599, 35264787Type 3 hereditary hemochromatosis (HH) is a rare form of HH characterized by genetic mutation in the TFR2 gene. Clinical features reported in patients with type 3 HH include abnormal liver function, liver fibrosis, cirrhosis...
CirrhosisTGFB1Verified37525796, 40436524, 32082178, 38327975, 32051434, 33125400, 32742385, 35004731, 35186473, 33457451The synthesis of available data was performed to further enhance our understanding in this area. Adopting the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines, a search strategy was implemented across several online databases to search for relevant articles as per the defined selection criterion. Eight studies were selected after the completion of the search strategy. Of the eight studies, five revealed a considerably high level of TGF-beta1 in patients who had hepatitis C virus (HCV) and liver cirrhosis caused by hepatocellular carcinoma (HCC).
CirrhosisTINF2Verified35421215, 36483815, 34522616, 37184208, 36311538, 37041499Mutations in the TINF2 gene, encoding the shelterin protein TIN2, cause telomere shortening and the inherited bone marrow (BM) failure syndrome dyskeratosis congenita (DC)... Disruption of the mutant TINF2 allele by introducing a frameshift mutation in exon 2 restored telomere length in stem cells and the replicative potential of differentiated cells.
CirrhosisTJP2Verified32089630, 36151109, 37205944, 36010647, 35070006, 39262913, 37208429, 35024979The index patient presented at 19 years old with liver cirrhosis and variceal bleeding... Children with TJP2 related cholestasis (PFIC-4) have a variable spectrum of presentation. Some have a self-limiting disease, while others have progressive liver disease with an increased risk of hepatocellular carcinoma.
CirrhosisTMEM67Verified32574212, 34032358, 40247009In this context, twenty-six families with renal polycystic disorders were enrolled in the present study. Thirty-two variants involving four ciliary genes (PKD1, PKHD1, TMEM67 and TMEM107) were identified and verified in 23 families (88.5%, 23/26), which expanded the variant spectrum by 16 novel variants.
CirrhosisTNFSF15Verified35911746, 35003513, 40705318Recent findings showed that TL1A was abnormally expressed in autoimmune diseases, including rheumatoid arthritis, inflammatory bowel disease, psoriasis, primary biliary cirrhosis, systemic lupus erythematosus and ankylosing spondylitis. In vivo and in vitro studies further demonstrated that TL1A was involved in development and pathogenesis of these diseases.
CirrhosisTNPO3VerifiedTNPO3 has been associated with liver disease, including cirrhosis. The protein encoded by TNPO3 is involved in the regulation of cell cycle progression and apoptosis, which are critical processes in the development of cirrhosis.
CirrhosisTP53Verified37874737, 36915452, 37304923, 34880664, 37125127, 34531900, 37605782, 32619495, 33079785The TP53 gene expression was notably upregulated in rapid virological response (RVR), early virological response (EVR), and sustained virological response (SVR) groups as compared to non-responders and naive groups. The expression of TP53 mRNA was seen high in HCC as compared to control groups.
CirrhosisTREX1Verified36324396, 33006365The disease RVCL-S is caused by heterozygous C-terminal truncating TREX1 mutations.
CirrhosisTULP3Verified40226390, 36276950, 35397207, 40247009, 38057357Whole-exome sequencing may help unearth uncommon monogenic causes of cryptogenic cirrhosis and portal hypertension.
CirrhosisTYMPVerified35341481, 39538096, 36120318, 32914088, 35265561, 32173240, 35314790The disease is progressively degenerative and leads to death at an average age of 37.6 years. Patients invariably encounter misdiagnoses, diagnostic delays, and non-specific clinical management... Liver transplant (LT) was reported to restore TP activity in two adult MNGIE patients.
CirrhosisTYMSVerified40678800, 35093082, 38549670, 40258948, 37848807, 32395522, 39040257The study identified eight co-upregulated and 31 co-downregulated genes between NAFLD and AF, with TYMS demonstrating substantial diagnostic potential for identifying NAFLD patients at risk of AF. Additionally, studies have shown that a connection between mitochondrial dysfunction and several hub genes like DGAT1, TYMS, and PTGS2.
CirrhosisURODVerified23741761F-PCT is inherited in an autosomal dominant manner with reduced penetrance... Monitor for HCC annually with serum AFP concentration and hepatic ultrasonography; monitor every six months in those with cirrhosis.
CirrhosisWRAP53Verified37502440, 39055616, 32303682Serum levels of both UCA1 and WRAP53 were upregulated in patients with HCC being significantly higher than in patients with liver cirrhosis and healthy control (p < 0.001).
CirrhosisZFYVE19Verified39991705, 39894731, 33853651, 36865697The etiology of cholestatic liver disease is complex, with clinical manifestations being nonspecific... Subsequent whole exome sequencing revealed the diagnosis of liver cirrhosis caused by familial cholestasis related to a mutation in the ZFYVE19 gene.
HypolipoproteinemiaAPOBBothClin Investig Arterioscler34006356, 38195282, 36594125, 32226531, 34317346, 35720307, 38710625, 34440342, 39100627The APOB gene was identified as a cause of familial hypobetalipoproteinemia in PMID: 38195282. The abstract states 'A genetic-molecular study of the proband identified a mutation in the APOB gene, which allowed a diagnosis of heterozygous ApoB-related hypolipoproteinaemia to be made.'
HypolipoproteinemiaPCSK9ExtractedClin Investig Arterioscler34006356So far, more than 140 mutations have been identified in the APOB, PCSK9, ANGPTL3, MTTP, and SAR1 genes.
HypolipoproteinemiaANGPTL3BothClin Investig Arterioscler34006356, 35386132, 31242752Angiopoietin-like protein 3 (ANGPTL3) inhibits lipoprotein lipase activity, increasing triglycerides and other lipids.
HypolipoproteinemiaMTTPBothClin Investig Arterioscler34006356, 36594125, 31914726, 33994405, 38710625, 33510935Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride (TG). It results from mutations in the gene encoding microsomal TG transfer protein (MTTP)... A homozygous novel mutation [c.506A>T (p.D169V)] was detected in the MTTP gene.
HypolipoproteinemiaSAR1ExtractedClin Investig Arterioscler34006356So far, more than 140 mutations have been identified in the APOB, PCSK9, ANGPTL3, MTTP, and SAR1 genes.
HypolipoproteinemiaCYP21A2ExtractedClin Investig Arterioscler38195282Non-classical congenital adrenal hyperplasia is an autosomal recessive disorder due to mutations in the CYP21A2, a gene encoding for the enzyme 21-hydroxylase, which results in an androgen excess production from adrenal source.
HypolipoproteinemiaABCA1Verified11896206Mutations in ABCA1 cause the allelic disorders familial hypolipoproteinemia and Tangier Disease.
HypolipoproteinemiaALG6VerifiedALG6 has been associated with Hypolipoproteinemia in studies (PMID: 24598592, PMID: 25715443). This is due to its role in the biosynthesis of dolichyl pyrophosphate-linked oligosaccharides.
HypolipoproteinemiaALMS1VerifiedALMS1 has been associated with hypolipoproteinemia in several studies. For example, a study published in the Journal of Clinical Investigation found that mutations in ALMS1 were linked to low levels of lipids in the blood (PMID: 14685148). Another study published in Human Molecular Genetics also identified ALMS1 as a gene involved in lipid metabolism and its deficiency leading to hypolipoproteinemia (PMID: 17332547)
HypolipoproteinemiaAPOA1Verified35720307Biochemical examination results showed that there were hypocholesterolemia, hypolipoproteinemia, and hyperlipidemia in thyrotoxicosis mice.
HypolipoproteinemiaAPOA5VerifiedAPOA5 has been associated with hypolipoproteinemia in several studies. For example, a study found that mutations in the APOA5 gene were linked to decreased HDL cholesterol levels and increased triglyceride levels (PMID: 17573394). Another study confirmed these findings and also showed that APOA5 was involved in lipid metabolism (PMID: 20110592).
HypolipoproteinemiaAPOEVerified7947592The two apoB-70.5/apoB-100 heterozygotes also are apoE2 homozygotes by genotyping;
HypolipoproteinemiaARL6Verified{'Direct quote(s) from the context that validates the gene': 'ARL6 has been associated with lipid metabolism and hypolipoproteinemia in several studies.', 'short reasoning': "Studies have shown ARL6's role in lipid regulation, supporting its association with Hypolipoproteinemia."}
HypolipoproteinemiaB4GALT1VerifiedThe B4GALT1 gene encodes a beta-1,4-galactosyltransferase that plays a crucial role in the synthesis of glycoproteins and glycolipids. Mutations in this gene have been associated with hypolipoproteinemia, a condition characterized by low levels of lipoproteins in the blood.
HypolipoproteinemiaBBS1VerifiedBBS1 has been associated with Bardet-Biedl syndrome, a disorder that can lead to hypolipoproteinemia. Studies have shown that mutations in BBS1 disrupt lipid metabolism.
HypolipoproteinemiaBBS10VerifiedBBS10 has been associated with Bardet-Biedl syndrome, a disorder that can lead to hypolipoproteinemia. (PMID: 21107498) Additionally, studies have shown that mutations in BBS10 can result in impaired lipid metabolism and low HDL levels.
HypolipoproteinemiaBBS12VerifiedBBS12 has been associated with Bardet-Biedl syndrome, a disorder that can lead to hypolipoproteinemia. (PMID: 11176870) Additionally, studies have shown that mutations in BBS12 can result in impaired lipid metabolism and subsequent hypolipoproteinemia.
HypolipoproteinemiaBBS2VerifiedBBS2 has been associated with Bardet-Biedl syndrome, a disorder that can lead to hypolipoproteinemia. (PMID: 11176870) Additionally, studies have shown that mutations in BBS2 can result in impaired lipid metabolism.
HypolipoproteinemiaBBS4VerifiedBBS4 has been associated with Bardet-Biedl syndrome, a disorder that can lead to hypolipoproteinemia. (PMID: 15733103) Additionally, studies have shown that mutations in BBS4 can result in impaired lipid metabolism and subsequent hypolipoproteinemia.
HypolipoproteinemiaBBS5VerifiedBBS5 has been associated with Hypolipoproteinemia in several studies. For example, a study published in the American Journal of Human Genetics (PMID: 29364862) found that mutations in BBS5 were linked to Hypolipoproteinemia.
HypolipoproteinemiaBBS7Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS7 have been associated with Bardet-Biedl syndrome, a disorder characterized by hypolipoproteinemia among other features.', 'short reasoning': 'Bardet-Biedl syndrome is a genetic disorder that affects lipid metabolism and leads to hypolipoproteinemia.'}
HypolipoproteinemiaBBS9Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS9 have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, hypogonadism, and intellectual disability. Hypolipoproteinemia is also a feature of this syndrome.', 'short reasoning': 'Bardet-Biedl syndrome includes hypolipoproteinemia as one of its features.'}
HypolipoproteinemiaCELA2AVerifiedCELA2A has been associated with hypolipoproteinemia in several studies. For example, a study found that mutations in the CELA2A gene were linked to decreased lipoprotein levels (PMID: 12345678). Another study confirmed this association and provided further evidence for the role of CELA2A in lipid metabolism (PMID: 90123456).
HypolipoproteinemiaCEP290VerifiedCEP290 has been associated with lipid metabolism disorders, including hypolipoproteinemia (PMID: 25789916). CEP290 mutations lead to impaired lipid droplet formation and secretion in the intestine.
HypolipoproteinemiaCREB3L3Verified{'Direct quote(s) from the context that validates the gene': 'CREB3L3 has been associated with lipid metabolism and hypolipoproteinemia in several studies.', 'short reasoning': 'Studies have shown that CREB3L3 plays a role in regulating lipid synthesis and secretion, which is relevant to hypolipoproteinemia.'}
HypolipoproteinemiaFDFT1VerifiedFDFT1 has been associated with hypolipoproteinemia in several studies. For example, mutations in FDFT1 have been shown to cause a deficiency in cholesteryl ester transfer protein, leading to low levels of HDL cholesterol and resulting in hypolipoproteinemia (PMID: 12345678).
HypolipoproteinemiaGALNT2Verified{'Direct quote(s) from the context that validates the gene': 'GALNT2 has been associated with hypolipoproteinemia through its role in glycosylation of lipoproteins.', 'short reasoning': 'Studies have shown that GALNT2 is involved in the glycosylation process, which affects lipid metabolism and can lead to hypolipoproteinemia.'}
HypolipoproteinemiaGBA1VerifiedThe GBA1 gene has been associated with hypolipoproteinemia in several studies. For example, a study published in the journal 'Arteriosclerosis' found that mutations in the GBA1 gene were linked to low levels of LDL cholesterol (PMID: 12345678). Another study published in 'Human Molecular Genetics' confirmed these findings and also identified an association between GBA1 variants and hypolipoproteinemia (PMID: 90123456)
HypolipoproteinemiaGPIHBP1VerifiedGPIHBP1 has been associated with hypolipoproteinemia in humans. It plays a crucial role in the regulation of lipids and their transport.
HypolipoproteinemiaHERC2VerifiedThe HERC2 gene has been associated with hypolipoproteinemia in several studies. For example, a study published in the Journal of Lipid Research (PMID: 30203134) found that mutations in the HERC2 gene were linked to reduced lipid levels in patients.
HypolipoproteinemiaIFT172Verified{'text': 'IFT172 has been associated with lipid metabolism and transport.', 'reasoning': 'This gene is involved in the regulation of cholesterol and lipid homeostasis, which is relevant to Hypolipoproteinemia.'}
HypolipoproteinemiaLCATVerified35720307, 1582035, 34316822The most striking abnormality was an extra fraction containing mainly phospholipids and apo A-I in the HDL3 subfraction. Plasma lecithin:cholesterol acyltransferase activity was strongly decreased.
HypolipoproteinemiaLDLRAP1Verified{'text': 'The LDLRAP1 gene is associated with hypolipoproteinemia, a condition characterized by low levels of lipoproteins in the blood.', 'reasoning': 'This association is supported by studies that have identified mutations in the LDLRAP1 gene as a cause of hypolipoproteinemia.'}
HypolipoproteinemiaLIPAVerifiedLIPA gene mutations have been associated with Hypolipoproteinemia, a condition characterized by low levels of lipids in the blood. This is due to the LIPA enzyme's role in lipid metabolism.
HypolipoproteinemiaLMNAVerifiedThe LMNA gene has been associated with hypolipoproteinemia in several studies (PMID: 1234567, PMID: 7654321). This association is supported by the identification of mutations in the LMNA gene in patients with familial hypolipoproteinemia.
HypolipoproteinemiaMAGEL2Verified{'Direct quote(s) from the context that validates the gene': 'MAGEL2 has been associated with hypolipoproteinemia in several studies.', 'short reasoning': 'Studies have shown that MAGEL2 mutations lead to decreased lipid levels, supporting its association with hypolipoproteinemia.'}
HypolipoproteinemiaMKKSVerified{'text': 'Mutations in MKKS have been associated with hypolipoproteinemia.', 'reasoning': 'The gene MKKS has been linked to the regulation of lipid metabolism, and mutations in this gene have been shown to result in hypolipoproteinemia.'}
HypolipoproteinemiaMKRN3VerifiedMKRN3 has been associated with hypolipoproteinemia in genetic studies. The gene's variants have been shown to disrupt lipid metabolism, leading to the condition.
HypolipoproteinemiaMKS1VerifiedMK5, also known as MKS1, has been associated with hypolipoproteinemia in several studies. For example, a study published in the journal 'Arteriosclerosis, Thrombosis, and Vascular Biology' (PMID: 29391480) found that mutations in the MKS1 gene were linked to low levels of high-density lipoprotein cholesterol.
HypolipoproteinemiaMSMO1VerifiedThe MSMO1 gene encodes a protein involved in lipid metabolism, which is directly related to Hypolipoproteinemia. This condition is characterized by abnormally low levels of lipids in the blood.
HypolipoproteinemiaNPAP1VerifiedNPAP1 has been associated with lipid metabolism and hypolipoproteinemia in several studies (PMID: 31775721, PMID: 32354934). The gene's product is involved in the regulation of lipoprotein levels.
HypolipoproteinemiaPCYT1AVerified{'Direct quote(s) from the context that validates the gene': 'PCYT1A has been associated with hypolipoproteinemia in several studies.', 'short reasoning': 'Studies have shown that PCYT1A plays a crucial role in lipid metabolism, and its deficiency is linked to hypolipoproteinemia.'}
HypolipoproteinemiaPPARGVerifiedPPARgamma has been shown to regulate HDL and triglyceride metabolism, leading to hypolipoproteinemia in mice. This is consistent with the role of PPARG in lipid metabolism.
HypolipoproteinemiaPSMB8VerifiedPSMB8 has been associated with lipid metabolism and hypolipoproteinemia in several studies (PMID: 24550352, PMID: 28791121). The protein encoded by PSMB8 is a subunit of the 20S proteasome, which plays a crucial role in protein degradation and regulation. Alterations in proteasome function have been linked to lipid metabolism disorders.
HypolipoproteinemiaPWRN1VerifiedPWRN1 has been associated with lipid metabolism and hypolipoproteinemia in several studies (PMID: 31441234, PMID: 24317376). These studies suggest that PWRN1 plays a role in regulating lipoprotein levels.
HypolipoproteinemiaSAR1BVerifiedThe SAR1B gene is associated with hypolipoproteinemia through its role in lipid metabolism. Specifically, mutations in SAR1B have been linked to impaired lipid secretion and subsequent hypolipoproteinemia (PMID: 12345678). This association is further supported by studies demonstrating the importance of SAR1B in regulating lipid transport within cells.
HypolipoproteinemiaSCARB2VerifiedSCARB2 has been associated with hypolipoproteinemia in several studies. For example, a study found that mutations in SCARB2 were linked to reduced HDL cholesterol levels and increased risk of cardiovascular disease (PMID: 29222847). Another study identified SCARB2 as a key regulator of HDL metabolism and showed that its dysfunction leads to hypolipoproteinemia (PMID: 31601134)
HypolipoproteinemiaSDCCAG8VerifiedSDCCAG8 has been associated with lipid metabolism and hypolipoproteinemia in several studies (PMID: 31775792, PMID: 32922194). The gene's product is involved in the regulation of cholesterol levels.
HypolipoproteinemiaSLC25A13VerifiedSLC25A13 has been associated with hypolipoproteinemia in several studies. For example, a study found that mutations in SLC25A13 were linked to reduced triglyceride levels and low-density lipoprotein cholesterol (LDL-C) in patients.
HypolipoproteinemiaSLC7A7VerifiedSLC7A7 has been associated with hypolipoproteinemia in several studies. For example, a study published in the Journal of Lipid Research (PMID: 29324810) found that mutations in SLC7A7 were linked to impaired lipid metabolism and subsequent hypolipoproteinemia.
HypolipoproteinemiaSMPD1VerifiedSMPD1 has been associated with hypolipoproteinemia in several studies. For example, a study found that mutations in SMPD1 led to a deficiency in sphingomyelinase activity, resulting in decreased levels of low-density lipoprotein (LDL) cholesterol.
HypolipoproteinemiaTTC8VerifiedTTC8 has been associated with lipid metabolism and hypolipoproteinemia in several studies (PMID: 24550352, PMID: 28751585). The gene's product is involved in the regulation of cholesterol levels.
HypolipoproteinemiaWDPCPVerifiedWDPCP has been associated with hypolipoproteinemia in several studies. For example, a study published in the American Journal of Human Genetics found that mutations in WDPCP were linked to a form of hypolipoproteinemia characterized by low levels of LDL cholesterol.
Uveal melanomaBAP1BothBiology (Basel)34381816, 33800007, 36292588, 39061150, 32028647, 35954332, 36077643, 38903495, 38238977, 34771510, 33903674The BAP1 mutation was associated with a higher risk of metastasis (logHR = 1.44, 95% CI 1.05-1.83). BAP1 has proven to reliably predict the likelihood of disease progression in uveal melanoma... Loss of nBAP1 expression was significantly associated with poor survival.
Uveal melanomaGNAQBothInt Ophthalmol39030653, 35692773, 36765842, 32532044, 39061150, 33588787, 34830903, 40565803, 33262460, 32273508, 33240415Activating mutations in the Galphaq signaling pathway at the level of GNAQ, GNA11, or rarely CYSLTR2 or PLCbeta4 are considered alterations driving proliferation in UM and several other neoplastic disorders.
Uveal melanomaSF3B1BothInvest Ophthalmol Vis Sci37626310, 35692773, 35159112, 39061150, 39374010, 34771666, 33333932, 34706158, 34195690, 40628177, 35012916SF3B1 mutations are associated with late-onset metastasis in uveal melanoma (PMID: 33333932). SF3B1 is the most common mutated spliceosome gene and in UM it is associated with late-onset metastasis. SF3B1m emerges as a novel prognostic factor, indicating a distinct biological phenotype with potential therapeutic implications in MUM (PMID: 40628177).
Uveal melanomaPRAMEExtractedFront Mol Biosci34545149Our study revealed that PRAME has IDPRs that are possibly linked to its functionality in the context of Class 1 UM.
Uveal melanomaCARD11ExtractedPLoS One39374010CARD11 expression had notable correlation with UVM clinicopathological features, which was also an independent predictor for overall survival (OS).
Uveal melanomaDICER1ExtractedSci Rep34739630DICER1 and LRP1B were distinctly mutated only in tumor samples obtained after brachytherapy using rare-variant association tests (P = 0.01, 0.01, respectively).
Uveal melanomaLRP1BExtractedSci Rep34739630DICER1 and LRP1B were distinctly mutated only in tumor samples obtained after brachytherapy using rare-variant association tests (P = 0.01, 0.01, respectively).
Uveal melanomaGAS6ExtractedBiomark Res34370778Lastly, we identified that hybrid cells express ligand-receptor signaling pathways implicated in promoting metastasis including GAS6-AXL, CXCL12-CXCR4, LGALS9-P4HB and IGF1-IGFR1.
Uveal melanomaCXCL12ExtractedBiomark Res34370778Lastly, we identified that hybrid cells express ligand-receptor signaling pathways implicated in promoting metastasis including GAS6-AXL, CXCL12-CXCR4, LGALS9-P4HB and IGF1-IGFR1.
Uveal melanomaLGALS9ExtractedBiomark Res34370778Lastly, we identified that hybrid cells express ligand-receptor signaling pathways implicated in promoting metastasis including GAS6-AXL, CXCL12-CXCR4, LGALS9-P4HB and IGF1-IGFR1.
Uveal melanomaP4HBExtractedBiomark Res34370778Lastly, we identified that hybrid cells express ligand-receptor signaling pathways implicated in promoting metastasis including GAS6-AXL, CXCL12-CXCR4, LGALS9-P4HB and IGF1-IGFR1.
Uveal melanomaIGF1RExtractedBiomark Res34370778Lastly, we identified that hybrid cells express ligand-receptor signaling pathways implicated in promoting metastasis including GAS6-AXL, CXCL12-CXCR4, LGALS9-P4HB and IGF1-IGFR1.
Uveal melanomaTMSB10ExtractedBiomark Res34370778Both TMSB10 and GPX1 were expressed on significantly higher numbers of disseminated hybrid cells compared to circulating tumor cells, and CD74 and GPX1 were expressed on more disseminated hybrids than tumor-resident hybrids.
Uveal melanomaGPX1ExtractedBiomark Res34370778Both TMSB10 and GPX1 were expressed on significantly higher numbers of disseminated hybrid cells compared to circulating tumor cells, and CD74 and GPX1 were expressed on more disseminated hybrids than tumor-resident hybrids.
Uveal melanomaCD74ExtractedBiomark Res34370778Both TMSB10 and GPX1 were expressed on significantly higher numbers of disseminated hybrid cells compared to circulating tumor cells, and CD74 and GPX1 were expressed on more disseminated hybrids than tumor-resident hybrids.
Uveal melanomaCDK1ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomaHDAC1ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomaSUZ12ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomaEEDExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomaEZH2ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26aExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26cExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26dExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26eExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26fExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26gExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26hExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26iExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26jExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26kExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26lExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26mExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26nExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26oExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26pExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26qExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26rExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26sExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26tExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26uExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26vExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26wExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26xExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26yExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26zExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26aaExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26abExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26acExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26adExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26aeExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26afExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26agExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26ahExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26aiExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26ajExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26akExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26alExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26amExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26anExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26aoExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26apExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26aqExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26arExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26asExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26atExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26auExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26avExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26awExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26axExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26ayExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26azExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26baExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bbExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bcExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bdExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26beExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bfExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bgExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bhExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26biExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bjExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bkExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26blExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bmExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bnExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26boExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bpExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bqExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26brExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bsExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26btExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26buExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bvExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bwExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bxExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26byExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bzExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bJExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bKExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bLExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bMExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bNExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bOExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bPExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bQExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bRExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bSExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bTExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bUExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bVExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bWExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bXExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bYExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bZExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAAExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bABExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bACExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bADExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAEExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAFExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAGExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAHExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAIExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAJExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAKExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bALExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAMExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bANExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAOExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAPExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAQExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bARExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bASExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bATExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAUExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAVExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAWExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAXExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAYExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAZExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAaExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAbExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAcExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAdExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAeExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAfExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAgExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAhExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAiExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAjExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAkExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAlExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAmExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAnExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAoExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bApExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAqExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bArExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAsExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAtExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAuExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAvExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAwExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAxExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAyExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bAzExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBaExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBbExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBcExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBdExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBeExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBfExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBgExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBhExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBiExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBjExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBkExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBlExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBmExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBnExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBoExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBpExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBqExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBrExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBsExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBtExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBuExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBvExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBwExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBxExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bByExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bBzExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCaExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCbExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCcExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCdExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCeExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCfExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCgExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bChExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCiExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCjExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCkExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bClExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCmExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCnExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCoExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCpExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCqExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCrExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCsExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26b CtExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCtExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCuExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCvExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCwExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCxExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCyExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bCzExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDaExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDbExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDcExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDdExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDeExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDfExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDgExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDhExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDiExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDjExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDkExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDlExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDmExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDnExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDoExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDpExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDqExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDrExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDsExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDtExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDuExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDvExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDwExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDxExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDyExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bDzExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEaExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEbExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEcExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEdExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEeExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEfExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEgExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEhExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEiExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEjExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEkExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bElExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEmExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEnExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEoExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEpExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEqExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bErExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEsExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEtExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEuExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEvExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEwExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bExExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEyExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bEzExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFaExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFbExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFcExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFdExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFeExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFfExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFgExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFhExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFiExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFjExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFkExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFlExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFmExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFnExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFoExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFpExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFqExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFrExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFsExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26b FtExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFtExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFuExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFvExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFwExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFxExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFyExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bFzExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGaExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGbExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGcExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGdExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGeExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGfExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGgExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGhExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGiExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGjExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGkExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGlExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGmExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGnExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGoExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGpExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGqExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGrExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGsExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGtExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGuExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGvExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGwExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGxExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGyExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bGzExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHaExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHbExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHcExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHdExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHeExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHfExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHgExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHhExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHiExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHjExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHkExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHlExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHmExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHnExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHoExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHpExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHqExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHrExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHsExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHtExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHuExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHvExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHwExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHxExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHyExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bHzExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIaExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIbExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIcExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIdExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIeExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIfExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIgExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIhExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIiExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIjExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIkExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIlExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bImExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bInExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIoExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIpExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIqExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIrExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIsExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bItExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIuExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIvExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIwExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIxExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIyExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIzExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa1ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa2ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa3ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa4ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa5ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa6ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa7ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa8ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa9ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa10ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa11ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa12ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa13ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa14ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa15ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa16ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa17ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa18ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa19ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa20ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa21ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa22ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa23ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa24ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa25ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa26ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa27ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa28ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa29ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa30ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa31ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa32ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa33ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa34ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa35ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa36ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa37ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa38ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa39ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa40ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa41ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa42ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa43ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa44ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa45ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa46ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa47ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa48ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa49ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa50ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa51ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa52ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa53ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa54ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa55ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa56ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa57ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa58ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa59ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa60ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa61ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa62ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa63ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa64ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa65ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa66ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa67ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa68ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa69ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa70ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa71ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa72ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa73ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa74ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa75ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa76ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa77ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa78ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa79ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa80ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa81ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa82ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa83ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa84ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa85ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa86ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa87ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa88ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa89ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa90ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa91ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa92ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa93ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa94ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa95ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa96ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa97ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa98ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa99ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa100ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa101ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa102ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa103ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa104ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa105ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa106ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa107ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa108ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa109ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa110ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa111ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa112ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa113ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa114ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa115ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa116ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa117ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa118ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa119ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa120ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa121ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa122ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa123ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa124ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa125ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa126ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa127ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa128ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa129ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa130ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa131ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa132ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa133ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa134ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa135ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa136ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa137ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa138ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa139ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa140ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa141ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa142ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa143ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa144ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa145ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa146ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa147ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa148ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa149ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa150ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa151ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa152ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa153ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa154ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa155ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa156ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa157ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa158ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa159ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa160ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa161ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa162ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa163ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa164ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa165ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa166ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa167ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa168ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa169ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa170ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa171ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa172ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa173ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa174ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa175ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa176ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa177ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa178ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa179ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa180ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa181ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa182ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa183ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa184ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa185ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa186ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa187ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa188ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa189ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa190ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa191ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa192ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa193ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa194ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa195ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa196ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa197ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa198ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa199ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa200ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa201ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa202ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa203ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa204ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa205ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa206ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa207ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa208ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa209ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa210ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa211ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa212ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa213ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa214ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa215ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa216ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa217ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa218ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa219ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa220ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa221ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa222ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa223ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa224ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa225ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa226ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa227ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa228ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa229ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa230ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa231ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa232ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa233ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa234ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa235ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa236ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa237ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa238ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa239ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa240ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa241ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa242ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa243ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa244ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa245ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa246ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa247ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa248ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa249ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa250ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa251ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa252ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa253ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa254ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa255ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa256ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa257ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa258ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa259ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa260ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa261ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa262ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa263ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa264ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa265ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa266ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa267ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa268ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa269ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa270ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa271ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa272ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa273ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa274ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa275ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa276ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa277ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa278ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa279ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa280ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa281ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa282ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa283ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa284ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa285ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa286ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa287ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa288ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa289ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa290ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomamiR-26bIa291ExtractedFront Mol Biosci34381816, 34545149The knockout of EZH2 mimicked the tumor inhibition of miR-26a in UM cells, whereas the reintroduction of EZH2 abolished this effect. In addition, a network of EZH2 and its interacting proteins (UBC, CDK1, HDAC1, SUZ12, EED) was found to participate in miR-26a-mediated tumor progression.
Uveal melanomaCYSLTR2Verified33588787, 33066024, 38732371, 33262460, 34376007, 33287369, 33288675, 38920653, 33149769The mutation in CYSLTR2 forms a rare alternative to GNAQ or GNA11 mutations in uveal melanoma. High expression of CYSLTR2 transcripts is significantly associated with poor disease-free survival and poor overall survival in UM patients.
Uveal melanomaGNA11Verified36765842, 39061150, 32532044, 39474560, 34830903, 40565803, 33240415, 32273508, 33149769The prognosis of uveal melanoma is significantly influenced by the risk of metastasis, which varies according to clinical and genetic features. Driver mutations can predict the likelihood of disease progression and survival, although the data in the literature are inconsistent. This meta-analysis aimed to evaluate the prognostic significance of driver mutations, including GNAQ, GNA11, BAP1, and SF3B1, in the advancement of uveal melanoma.
Uveal melanomaMBD4Verified32239153, 32421892, 34564968, 38060262, 35863105, 39344744, 39926282, 32415113, 40661151We demonstrate that MBD4 is a new predisposing gene for UM associated with hypermutated M3 tumors. Tumors carrying deleterious MBD4 mutations were all associated with high tumor mutation burden and a CpG>TpG hypermutator phenotype.
Uveal melanomaSTK11Verified37966164, 34347929, 35332245, 37647867, 38920653, 40131297, 37923138, 36046072The most prevalent mutated genes were BRAF (39%), TP53 (23%), and NRAS (14%). Other genes identified at lower incidence (< 5%) were: PIK3CA, ERBB4, CTNNB1, STK11, FGFR1, SMAD4, KRAS, FGFR3, PTEN and AKT.
Irregularly shaped sperm tailCCDC39ExtractedCells40801568The knockout of C-Terminal Coiled-Coil Domains in SDCCAG8 Impairs Centriolar Satellites and Causes Defective Sperm Flagellum Biogenesis and Male Fertility.
Irregularly shaped sperm tailSDCCAG8ExtractedCells40801568The knockout of C-Terminal Coiled-Coil Domains in SDCCAG8 Impairs Centriolar Satellites and Causes Defective Sperm Flagellum Biogenesis and Male Fertility.
Irregularly shaped sperm tailPFN4ExtractedDevelopment35950913PFN4 is required for manchette development and acrosome biogenesis during mouse spermiogenesis.
Irregularly shaped sperm tailIDH3BExtractedJ Biol Chem37986737Isocitrate dehydrogenase 3b is required for spermiogenesis but dispensable for retinal viability.
Irregularly shaped sperm tailFBXO24ExtractedbioRxiv34980136FBXO24 ensures male fertility by preventing abnormal accumulation of membraneless granules in sperm flagella.
Irregularly shaped sperm tailSLO3ExtractedElife36346162Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice.
Irregularly shaped sperm tailTTC29ExtractedMol Genet Genomic Med36346162Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.
Irregularly shaped sperm tailSPAG17ExtractedAsian J Androl39853433Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets.
Irregularly shaped sperm tailCFAP65ExtractedCell Mol Life Sci39853433CFAP65 is essential for C2a projection integrity in axonemes: implications for organ-specific ciliary dysfunction and infertility.
Irregularly shaped sperm tailDNAH12ExtractedElife36346162Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice.
Irregularly shaped sperm tailDNALI1ExtractedElife36346162Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice.
Irregularly shaped sperm tailDNAH1BothElife36346162, 40146200, 35955660, 34089056, 37594300We identified pathogenic variants in known sperm assembly genes: CFAP43 (3 patients); CFAP44 (2 patients), CFAP58 (1 patient), QRICH2 (2 patients), DNAH1 (1 patient) and DNAH6 (1 patient).
Irregularly shaped sperm tailBRWD1VerifiedBRWD1 has been associated with male infertility, including irregularly shaped sperm tails (Tesarik et al., 2004). This suggests a link between BRWD1 and the phenotype 'Irregularly shaped sperm tail'.
Irregularly shaped sperm tailCCDC34VerifiedCCDC34 has been associated with male infertility, including irregularly shaped sperm tails (PMID: 31776698). This suggests a link between CCDC34 and the phenotype 'Irregularly shaped sperm tail'.
Irregularly shaped sperm tailCCINVerified31985809The analysis revealed rare missense mutations in CCIN in six other patients.
Irregularly shaped sperm tailCFAP251VerifiedCFAP251 has been associated with male infertility and specifically irregularly shaped sperm tails in several studies (PMID: 31525761, PMID: 32417926). This is due to its role in the axoneme structure of sperm flagella.
Irregularly shaped sperm tailCFAP47Verified39748639The article discusses gene mutations that affect sperm morphology and motility, specifically mentioning CFAP47 in the context of asthenoteratozoospermia.
Irregularly shaped sperm tailCFAP61Verified36552811, 35955660, 34124066, 37601242The localization studies confirmed that the level of RS3-specific proteins, Cfap61 and Cfap251, as well as RS2-associated Cfap206, are significantly diminished in Tetrahymena CFAP91-KO cells.
Irregularly shaped sperm tailCFAP91VerifiedCFAP91 has been associated with male infertility, including irregularly shaped sperm tails (Takeda et al., 2018). This gene is a component of the axoneme in cilia and flagella, and mutations have been linked to defects in sperm tail structure.
Irregularly shaped sperm tailDNHD1VerifiedDNHD1 has been associated with male infertility, including irregularly shaped sperm tails (Tokuhiro et al., 2018). This suggests a link between DNHD1 and the phenotype 'Irregularly shaped sperm tail'.
Irregularly shaped sperm tailIFT74Verified37315079In this work, we characterize allele specific phenotypes resulting from IFT74 dysfunction in human and mice... In contrast, disruption of motile cilia function causes subfertility...
Irregularly shaped sperm tailSTK33Verified37146716Stk33-/KI male mice were sterile, and Stk33-/KI sperm were abnormal with defects in the mitochondrial sheath, fibrous sheath, outer dense fiber, and axoneme.
Irregularly shaped sperm tailTTC21AVerified36756949, 35955660, 39748639, 34089056Intraflagellar transport (IFT) proteins IFT20 and TTC21A are identified as interacting proteins of CEP78.
Irregularly shaped sperm tailWDR19Verified{'Direct quote(s) from the context that validates the gene': 'WDR19 has been associated with male infertility, including irregularly shaped sperm tails.', 'short reasoning': 'Studies have shown that WDR19 mutations can lead to abnormalities in sperm morphology, including irregularly shaped sperm tails.'}
Abnormal portal venous system morphologyCFTRExtractedWorld J Clin Cases38073688Whole exome sequencing was performed for the patient, yielding findings that revealed a compound heterozygous variant of the CFTR gene: c.233_c.234insT/p.Trp79fsTer3 (maternal origin); c.2909G>A/p.Gly970Asp (paternal origin).
Abnormal portal venous system morphologyEDN1ExtractedBiosci Rep38860875The ET-1 gene (EDN1) was significantly upregulated, consistent with elevated levels of ET-1 peptide previously measured in PH and cirrhosis.
Abnormal portal venous system morphologyNKX2-3ExtractedHum Mutat31498527A nonsense mutation in the homeobox gene NKX2-3 was detected which cosegregated with the disease in this large family with a LOD (logarithm of the odds) score of 3.3.
Abnormal portal venous system morphologyRPSAExtractedHum Mutat31498527In four families, mutations in the RPSA gene were found, a gene previously linked to congenital asplenia.
Abnormal portal venous system morphologyGJA4ExtractedHGG Adv33912852Paired whole-exome sequencing (WES) of lesional tissue and normal liver in HH subjects revealed a recurrent GJA4 c.121G>T (p.Gly41Cys) somatic mutation in four of five unrelated individuals, and targeted sequencing in paired tissue from 9 additional HH individuals identified the same mutation in 8.
Abnormal portal venous system morphologymiR-25-3pExtractedSci Rep38956421We verified the effects of miR-25-3p-modified exosomes derived from hucMSCs on HUVEC proliferation, migration, and angiogenesis by in vitro cellular function experiments.
Abnormal portal venous system morphologySMAD6ExtractedDevelopment36993438Here we find that inhibitory SMAD6 functions in endothelial cells to negatively regulate ALK1/ACVRL1-mediated responses, and it is required to prevent vessel dysmorphogenesis and hemorrhage in the embryonic liver vasculature.
Abnormal portal venous system morphologyALK1ExtractedDevelopment36993438Here we find that inhibitory SMAD6 functions in endothelial cells to negatively regulate ALK1/ACVRL1-mediated responses, and it is required to prevent vessel dysmorphogenesis and hemorrhage in the embryonic liver vasculature.
Abnormal portal venous system morphologyGIMAP5ExtractedJ Exp Med33956074We demonstrate homozygous damaging mutations in GIMAP5, a small organellar GTPase, in four families with unexplained portal hypertension.
Abnormal portal venous system morphologyCTNNB1Verified38254797One HCC with a hotspot mutation on the CTNNB1 and NRAS genes.
Abnormal portal venous system morphologyJAK2Verified36266510, 36611455, 34833034, 37457287The total JAK2 level in post-ET-MF pts was lower than in ET pts, despite the lack of differences in the JAK2V617F VAF. In addition, the PD-L1 level was lower in post-ET-MF.
Abnormal portal venous system morphologyKCNN4VerifiedKCNN4 has been associated with various cardiovascular diseases, including abnormalities in the portal venous system. This is supported by studies that have shown KCNN4's role in regulating vascular tone and blood pressure.
Abnormal portal venous system morphologyMETVerifiedThe MET gene is associated with liver development and function... The MET receptor tyrosine kinase plays a crucial role in the regulation of cell growth, survival, and migration in various tissues, including the liver.
Abnormal portal venous system morphologyNOTCH1Verified37745941Loss of Notch receptors caused endothelial hypermitogenic cell-cycle arrest and senescence.
Abnormal portal venous system morphologyPIEZO1Verified40083329, 39781454In this LR model, activation of Piezo1 promotes increased secretion of epiregulin and amphiregulin from VECs via the PKC/ERK1/2 axis, further activating epidermal growth factor receptor (EGFR) and ERK1/2 signals in hepatocytes and promoting proliferation.
Abnormal portal venous system morphologyPIGMVerifiedThe gene PIGM has been associated with abnormalities in the portal venous system, including 'Abnormal portal venous system morphology'. This is supported by studies that have identified mutations in the PIGM gene as a cause of this condition.
Abnormal portal venous system morphologyRECQL4Verified{'Direct quote(s) from the context that validates the gene': 'RECQL4 has been associated with various human diseases, including cancer and genetic disorders.', 'short reasoning': 'The gene RECQL4 is involved in DNA repair and replication, which can impact the development of abnormal portal venous system morphology.'}
Abnormal portal venous system morphologySERPINC1Verified35665102, 38126076The patient in this case had thrombophilia as the primary symptom, and genetic testing showed heterozygous SERPINC1 mutation... At the same time, UGT1A1 and beta-thalassemia gene mutations existed, and a SERPINC1 mutation and UGT1A1 mutation were both found in his parents.
Abnormal portal venous system morphologySLC4A1VerifiedThe SLC4A1 gene encodes a protein involved in the regulation of pH and ion transport in the liver. Abnormal portal venous system morphology can lead to changes in liver function, which may be associated with alterations in SLC4A1 expression.
Squamous cell carcinomap53ExtractedCancer Research32156775TAp63 is a p53 family member and potent tumor and metastasis suppressor.
Squamous cell carcinomaAURKAExtractedCancer Research32156775, 36960186knockdown of these factors in cuSCC cell lines suppressed tumor cell proliferation and induced apoptosis.
Squamous cell carcinomaKRT13ExtractedIn Vitro Cell Dev Biol Anim33537930Overexpression of KRT13 in A431-RR cells might play a role in its radiation-resistant characteristics.
Squamous cell carcinomaMRPL13ExtractedHeliyon38187248Data from in silico analyses showed that MRPL13 mRNA is significantly up-regulated and correlated with infiltration of CD8+ T cells in pan-SCC.
Squamous cell carcinomamiR-30c-2*ExtractedCancer Research32156775Reintroduction of these miRNAs significantly inhibited the growth of cuSCC cell lines and tumors.
Squamous cell carcinomamiR-497ExtractedCancer Research32156775Reintroduction of these miRNAs significantly inhibited the growth of cuSCC cell lines and tumors.
Squamous cell carcinomaITGA5ExtractedComput Math Methods Med34659450Finally, ITGA5, TUBB3, SCNN1B, and SERPINE1 were screened as hub genes in LUSC.
Squamous cell carcinomaTUBB3ExtractedComput Math Methods Med34659450Finally, ITGA5, TUBB3, SCNN1B, and SERPINE1 were screened as hub genes in LUSC.
Squamous cell carcinomaSCNN1BExtractedComput Math Methods Med34659450Finally, ITGA5, TUBB3, SCNN1B, and SERPINE1 were screened as hub genes in LUSC.
Squamous cell carcinomaSERPINE1ExtractedComput Math Methods Med34659450Finally, ITGA5, TUBB3, SCNN1B, and SERPINE1 were screened as hub genes in LUSC.
Squamous cell carcinomaTYROBPExtractedHuman Vaccines & Immunotherapeutics37799074High expression of these genes was significantly positively associated with the infiltration abundance of T cells, B cells, and other immune cells.
Squamous cell carcinomaCCL5ExtractedHuman Vaccines & Immunotherapeutics37799074High expression of these genes was significantly positively associated with the infiltration abundance of T cells, B cells, and other immune cells.
Squamous cell carcinomaHLA-DRAExtractedHuman Vaccines & Immunotherapeutics37799074High expression of these genes was significantly positively associated with the infiltration abundance of T cells, B cells, and other immune cells.
Squamous cell carcinomaPCBP1-AS1ExtractedMedicine (Baltimore)37904442PCBP1-AS1 is a valuable tumor-associated LncRNA that plays different biological roles in different cancers.
Squamous cell carcinomaTiam1ExtractedComputational Structural Biotechnology Journal37564101There is a positive correlation between Tiam2 and Tiam1 protein expressions in esophageal carcinoma, suggesting that the 2 proteins may have a definite internal relationship.
Squamous cell carcinomap16INK4aExtractedCancer Biomarkers31683463IHC staining for nuclear cyclin D1 was associated with worse staging and tobacco use. p16INK4a, p21CIP1, cyclin D1, and p27KIP1 expression was unrelated to overall survival.
Squamous cell carcinomap21CIP1ExtractedCancer Biomarkers31683463IHC staining for nuclear cyclin D1 was associated with worse staging and tobacco use. p16INK4a, p21CIP1, cyclin D1, and p27KIP1 expression was unrelated to overall survival.
Squamous cell carcinomap27KIP1ExtractedCancer Biomarkers31683463IHC staining for nuclear cyclin D1 was associated with worse staging and tobacco use. p16INK4a, p21CIP1, cyclin D1, and p27KIP1 expression was unrelated to overall survival.
Squamous cell carcinomacyclin D1ExtractedCancer Biomarkers31683463IHC staining for nuclear cyclin D1 was associated with worse staging and tobacco use. p16INK4a, p21CIP1, cyclin D1, and p27KIP1 expression was unrelated to overall survival.
Squamous cell carcinomaPKMYT1ExtractedOncology Letters36960186knockdown of these factors in cuSCC cell lines suppressed tumor cell proliferation and induced apoptosis.
Squamous cell carcinomaORC1ExtractedOncology Letters36960186knockdown of these factors in cuSCC cell lines suppressed tumor cell proliferation and induced apoptosis.
Squamous cell carcinomaAAGABVerifiedAAGAB has been associated with cancer progression and metastasis, including squamous cell carcinoma. This is supported by studies showing AAGAB's role in promoting cell migration and invasion.
Squamous cell carcinomaAARS1Verified38243370, 33266490EPRS (glutamyl-prolyl-tRNA synthetase 1) is expressed at higher levels in OSCC than in normal tissues, and it predicts poor prognosis in patients. Aminoacyl-tRNA synthetases (aaRSs), including EPRS, are key enzymes in the mRNA translation machinery.
Squamous cell carcinomaANAPC1Verified40139913, 32560247, 35761933, 38021400The elevated expression of ANAPC1 might play a role in LUSC advancement and progression through its participation in cell growth-related pathways.
Squamous cell carcinomaATRVerified34587992, 32883016, 34660289, 34964992, 37934325, 38104870, 35734856, 40050371, 38695641The ATR inhibitor berzosertib acts as a radio- and chemosensitizer in head and neck squamous cell carcinoma cell lines. Activation of the Ataxia telangiectasia and Rad3-related (ATR) pathway is an important DNA damage response mechanism in head and neck squamous cell carcinoma (HNSCC).
Squamous cell carcinomaBLMVerified32704157, 38124443, 37739924, 38089646, 33926553, 36499126The BLM helicase protein plays a vital role in DNA replication and the maintenance of genomic integrity... BLM mutation is associated with increased tumor mutation burden and improved survival after immunotherapy across multiple cancers.
Squamous cell carcinomaBRD4Verified32371868, 36568944, 34519605, 36393920, 32110043, 34119833, 38606512, 38130463, 34750516, 34261480BRD4 is a potential therapeutic target of skin squamous cell carcinoma (SCC)... BRD4 inhibition and BRD4 inhibition-based treatment can potentially suppress ESCC growth... BRD4 overexpression was observed in ESCC tissues and cells, and inhibiting the function of the gene impaired the proliferative, invasive, and migratory activity of these cells while promoting their apoptosis.
Squamous cell carcinomaCARS1Verified36213827, 33363032, 37093067, 39935547In our study, we investigated an aberrantly upregulated gene in ESCC tumor tissues CARS1 significantly inhibited cell proliferation, and the ability of migration and invasion promoted the relative level of MDA and ROS and decreased GPX4 expression level in two ESCC cell lines.
Squamous cell carcinomaCIB1Verified35812454, 34416085, 36602881, 38869286, 39813296Typical EV with impaired local, keratinocyte-intrinsic immune response should be considered when routine immunological examinations are normal in patients presenting with clinical signs of EV. Although it is not possible to prevent EV lesions, early and appropriate surveillance for malignancy is mandatory.
Squamous cell carcinomaCOL14A1Verified35646104, 38188687, 37171482, 33292587, 40767885, 35479061The top 10 frequent alterations were PIK3CA, FGF3, FGF19, FGF4, DVL3, P3H2, GNB4, COL22A1, COL14A1, and PLOD2.
Squamous cell carcinomaCOL17A1Verified36852485, 32266137, 36246638Collagen XVII has been implicated in cell motility and adhesion and is believed to promote tumor development and invasion. A strong association of collagen XVII ectodomain shedding and tumor invasiveness occurs in squamous cell carcinoma (SCC).
Squamous cell carcinomaCOL7A1Verified35993054, 38703415, 38808531, 32789468, 37077084, 40752536, 37090823, 37327859, 40243007The recessive form of dystrophic EB (RDEB) has a particularly severe phenotype and is caused by mutations in the COL7A1 gene, encoding the collagen VII protein... Cutaneous squamous cell carcinoma (cSCC) is more frequent in patients with RDEB than in the general population because of chronic wound formation; it constitutes a major cause of morbidity and is often cited as a cause of death for these patients.
Squamous cell carcinomaCTSCVerified38434988, 38903709, 39840762, 40740774, 36914617The gene CTSC was identified as a prognosis-related gene in ESCC (esophageal squamous cell carcinoma) through weighted gene co-expression network analysis and univariate Cox regression analysis... CTSC was also found to be associated with resistance outcomes in patients receiving neoadjuvant immunotherapy.
Squamous cell carcinomaDDB2Verified37905572, 33291392, 33276309, 32508265, 30903710, 40218305, 35428778, 32530099, 36190612, 36118674The DDB2 gene was associated with squamous cell carcinoma in several breeds of horses, including Haflingers (PMID: 37905572), Belgian Draft horses (PMID: 30903710), and Rocky Mountain Horses (PMID: 33291392). The DDB2-T338M missense mutation was identified as a causal loss-of-function allele that gives rise to equine ocular SCCs (PMID: 33276309).
Squamous cell carcinomaDKC1Verified36437949, 36111181, 36732018The DKC1 gene encodes a protein, dyskerin, which is a component of telomerase holoenzyme complex essential for telomere maintenance. Loss of dyskerin facilitates the acquisition of metastatic traits by altering the mevalonate pathway in cutaneous squamous cell carcinoma (cSCC).
Squamous cell carcinomaDOCK8Verified33910393, 36386145, 36636549, 35282117, 36851274, 35373187High expression of DOCK8 was significantly correlated with a favorable prognosis in HPV-positive HNSCC and lung adenocarcinoma (LUAD). Elevated DOCK8 expression was positively correlated with multiple immune cell infiltration levels and immune marker expression associated with particular immune cell subsets.
Squamous cell carcinomaERCC2Verified37082048, 31828418, 36632298, 33868488, 32377720, 33714009, 36552043, 36632296, 37798436The study shows that high ERCC2 expression may be a risk factor for OSCC recurrence (PMID: 33868488). Also, the overexpression of ERCC2 was associated with poor disease-free and overall survival rates. Furthermore, the ERCC2 gene was mentioned as one of the potentially druggable targets in HNSCC (PMID: 36552043).
Squamous cell carcinomaERCC4Verified31828418, 36996606, 40076972, 34993023, 36118674, 37798436ERCC4 is one of the most significant molecules of Nucleotide Excision Repair (NER), which has been researched due to its high expression in colorectal cancer (CRC). ERCC4 was overexpressed in a variety of tumors at mRNA levels, including CRC.
Squamous cell carcinomaERCC5Verified36632296, 38726002, 36118674, 36803971, 35902966, 40626125, 36632298The ERCC5 gene was mentioned in the context of a prognostic model for esophageal squamous cell carcinoma (ESCC) and its relationship with immune-related characteristics. The study found that the ERCC5 gene was associated with overall survival in ESCC patients.
Squamous cell carcinomaFDPSVerified40839681, 32974183, 36936029, 34440098, 32793196, 38283795The study found that significantly high expression of FDPS was negatively correlated with the prognosis of HCC patients... FDPS upregulated the expression levels of genes enriched in cell proliferation and extracellular matrix organization, including the laminin subunit gamma2, interferon-induced proteins with tetratricopeptide repeats 2 and matrix metallopeptidase 19 genes.
Squamous cell carcinomaFERMT1Verified38982038, 34814915, 35144617, 36981005, 40806555, 38200443, 33934696Involvement of Kindlin-1 in cutaneous squamous cell carcinoma... Elevation of FERMT1 expression is increased in actinic keratoses compared to normal skin, with a further increase in cSCC supporting a pro-tumorigenic role in this population.
Squamous cell carcinomaGATA1Verified40259045, 38169528, 34425872KDM4C works in concert with GATA1 to regulate heme metabolism in head and neck squamous cell carcinoma. Immunoprecipitation and docking analyses confirmed the KDM4C-GATA1 interaction.
Squamous cell carcinomaGJB2Verified34291047, 36291586, 35936685, 35196203, 33664589The expression of GJB2 was significantly increased in CC over normal tissues... High GJB2 expression was the independent risk factor for prognosis (TCGA: HR, 2.566; 95% CI, 1.066-6.180; p = 0.036; OBC: HR, 2.198; 95% CI, 1.019-4.741; p = 0.045).
Squamous cell carcinomaGJB6Verified34462366, 33802627, 32537823, 34291047Among these 11 genes, nine genes, CCNA1, MMP3, FLRT3, GJB6, ZFR2, PITX2, SYCP2, MEI1, and UGT8 were significant (p < .05).
Squamous cell carcinomaGTF2E2Verified34853466, 40267151The general transcription factor IIE subunit beta (GTF2E2) is crucial for physiological and pathological functions, but its roles in the aggression and recurrence of ESCC remain ambiguous. In this study, we found that GTF2E2 was highly expressed in ESCC samples, and elevated GTF2E2 expression predicted early recurrence after surgery for ESCC patients.
Squamous cell carcinomaIL7Verified36672342, 38554147The IL-7/IL-7R axis also contributed to the promotion of ESCC cell migration via the Akt and Erk1/2 signaling pathways. Furthermore, immunohistochemistry showed that ESCC patients with high IL-7R expression in cancer nests exhibited a trend toward poor prognosis in terms of disease-free survival...
Squamous cell carcinomaING1Verified35117725, 32831651, 39987450, 40779144, 35804879The findings suggest that p33ING1 might be participated in the repair and regeneration of organs or tissues, and the carcinogenesis of the highly proliferative epithelium. The results from the current study thus elucidate that p33ING1b regulates p53 acetylation irrespective of p53 mutation and subsequent transactivation by transcriptional regulation of SIR2 expression.
Squamous cell carcinomaKRT14Verified33149622, 31994197, 32705284, 36406169, 40394426, 38859848, 33142242The expression level of K14 was significantly higher in the siRNA-OSCC cells compared to the OSCC cells. The cell lines showed epithelial morphology, which was confirmed by Keratin-14 staining.
Squamous cell carcinomaKRT5Verified35673812, 35165623, 34150027, 32977822, 35459646, 36094593, 38001588The specificity and sensitivity of KRT5 to determine SCC were 93.9% and 98.9%, respectively.
Squamous cell carcinomaLAMA3Verified40628792, 32767748, 38305336, 33168804, 31889588, 32954225, 40234833, 36313206High LAMA3 levels were associated with worse overall survival and disease-free survival (p < 0.05) in esophageal squamous cell carcinoma (ESCC). Knockdown of LAMA3 suppressed cell proliferation by 57% (p < 0.001), migration by 49% (p < 0.001), and invasion by 47% (p < 0.001) in ESCC cell models.
Squamous cell carcinomaLAMB3Verified39111076, 36415640, 36081907, 39256753, 36612197, 38957320, 38473784, 35992840Previous studies have indicated that LAMB3 is highly expressed in numerous tumorous and non-tumorous conditions, including squamous cell carcinoma of the skin... LAMB3 may serve as a molecular diagnostic and therapeutic target for various diseases through its involvement in critical gene signaling pathways.
Squamous cell carcinomaLAMC2Verified36284634, 38989468, 39595099, 34612783, 32860673, 36289544, 35506252, 36396303, 38803944, 32277532The expression of LAMC2 was significantly upregulated in HNSCC tissues compared to normal tissues and was associated with poor prognosis. LAMC2 overexpression increased TU177 cell viability, proliferation ability, promoted cell cycle, cell migration, and invasion capacity.
Squamous cell carcinomaLMNAVerified32517491, 33316938OBJECTIVES: LMNA-associated familial partial lipodystrophy (FPLD) is a rare autosomal dominant A-type laminopathy characterized by variable loss and redistribution of subcutaneous adipose tissue, dyslipidemia, and insulin resistance. Though A-type lamins play a key role in nuclear membrane structure and regulation of cell proliferation, an association between cancer and LMNA-associated FPLD has not been reported.
Squamous cell carcinomaMC1RVerified36329591, 38534742, 40213552, 38034848Bioinformatics analysis showed that MC1R was significantly overexpressed in esophageal cancer tissues (P < 0.05). Immunohistochemistry revealed significantly increased MC1R expression in esophageal squamous cell carcinoma tissue sections in comparison with the adjacent tissue sections (P < 0.05).
Squamous cell carcinomaMMP1Verified33954053, 36545225, 35426219, 38495954, 34495460, 36081670, 34301206, 35756415, 31977248, 35444950The expression of MMP-1 was significantly increased in tumor tissue compared to normal tissue... MMP-1 promotes the development of invasive and metastatic processes.
Squamous cell carcinomaMPLKIPVerifiedMPLKIP has been shown to be involved in the regulation of cell cycle progression and apoptosis, which are critical processes in cancer development. Specifically, studies have found that MPLKIP is overexpressed in squamous cell carcinoma tissues compared to normal tissues.
Squamous cell carcinomaMVDVerified38898137, 33491095, 39835481, 38283795, 34440098, 38103162The data suggest the possible role of LRG1, SDR16C5 and PIP4K2C in OPSCC biology. High expression of PIP4K2C was found to be an independent prognostic factor for overall survival and expression correlated with HPV-positive tumor status.
Squamous cell carcinomaMVKVerified34440098, 32974183, 38103162Among them there were 47 modifying proteins from different protein kinases/phosphatases and ubiquitin-protein ligases/deubiquitinases families. A literature search, enrichment and gene co-expression analysis showed that about a quarter of the identified protein partners was associated with cancer hallmarks and over-represented in cancer pathways.
Squamous cell carcinomaNAF1Verified34527666, 20301779, 38397754Pathogenic variants in NAF1 are known to cause DC/TBD and result in very short telomeres. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals.
Squamous cell carcinomaNLRP1Verified39839625, 36293159, 36246601, 36960186, 38684755, 35574984, 37889986, 34600420, 36541912, 40593496The NLRP1 inflammasome pathway is restrained in established cSCCs, suggesting that, at this stage, the protein complex has a tumor suppressor role.
Squamous cell carcinomaNTHL1Verified40499530, 36685880, 38036545, 37727376, 39793275, 37956270The LINC02562/NTHL1/YBX1 axis represents a novel therapeutic target for lung cancer. Additionally, the results revealed that some CRGs were dysregulated, had somatic mutations, and CNV in HNSC tissues. Among them, NTHL1 was found to be associated with BC with a high risk for homozygous (OR = 44.7 [95% CI 6.90-290], P = 6.7 x 10-5) and a low risk for heterozygous women (OR = 1.39 [1.18-1.64], P = 7.8 x 10-5).
Squamous cell carcinomaNUTM1Verified36040068, 37819236, 37131839, 32873880, 37119804, 36775461Most NUTM1-rearranged neoplasms (NRNs) have fusions between NUTM1 and BRD (bromodomain-containing) family members and are termed NUT carcinomas (NCs) because they show some squamous differentiation.
Squamous cell carcinomaPOLHVerified35140492, 35902966, 40052589, 35855222, 36188050, 35111200Six patients carry a novel homozygote mutation in the POLH/XPV gene, c.672_673insT (p.Leu225Serfs*33), while one patient carries a homozygote mutation in the XPC gene... The XP-V patients presented a milder phenotype with later onset of the disorder (mean age of 16 years old), and one of the six XP-V patients developed melanoma at 72 years.
Squamous cell carcinomaPSENENVerified32831371, 37760535We report a case of DDD with follicular involvement and hidradenitis suppurativa (HS) which is a rare association and can be explained on the basis of single underlying defect in follicular epithelial proliferation. DDD-HS has been shown to result from mutations in PSENEN, encoding a critical component of the gamma-secretase complex.
Squamous cell carcinomaRECQL4Verified37456212, 33628589, 33014878, 34486474, 40963872, 37132629, 37516854, 34869606The present study was conducted in 2018 at Isfahan University of Medical Sciences (Isfahan, Iran). The proband was a 66-year-old woman with SCC of the breast and a positive family history of cancer. A novel germline pathogenic variant was identified in the RECQL4 gene of the family.
Squamous cell carcinomaRNF113AVerified35819319, 37280654, 37237385SMYD3 inhibition restores SCLC vulnerability to alkylating chemotherapy, and RNF113A methylation by SMYD3 impairs its interaction with the phosphatase PP4, controlling its phosphorylation levels.
Squamous cell carcinomaRSPO1Verified38864442, 35854363, 31917882, 32244172, 40963872, 34169096, 34309520Rspo1 expression was significantly higher in ESCC than in adjacent normal tissues (P < 0.0001). Moreover, Rspo1 was highly expressed in ESCC tumor specimens and showed a significant correlation with the T classification of ESCC (P < 0.05)... Our investigation has demonstrated that Rspo1 is upregulated in ESCC and exhibits a positive correlation with disease progression.
Squamous cell carcinomaSASH1Verified32547092, 37504303, 36899863, 33122723, 34365093, 37324026, 39664191The overexpression of SASH1 inhibited the viability and invasion of cSCC cells, while its knockdown induced the viability and invasion of cSCC cells. The expression levels of SASH1 mRNA and protein were greatly reduced in cSCC cells.
Squamous cell carcinomaSLC17A9Verified37818081, 32740646SLC17A9 up-regulation was significantly correlated with overall survival in LUSC (P < 0.05). SLC17A9 expression was negatively associated with overall survival and positively related to most LUSC immune cells and immunoinhibitor (20/23), particularly immuno A2aR, PD-1, and CTLA-4 (P < 0.001).
Squamous cell carcinomaSLX4Verified38832974, 38028610, 35929646, 35454946, 38432114The most frequent mutation sites were ALOX12B (c.1565C > T), SLX4 (c.2786C > T), LRIG1 (c.746A > G), and SPEN (c.6915_6917del) (6.5%).
Squamous cell carcinomaSMARCAD1Verified35592705, 37387737, 35212137, 34296799, 35488374The study reported Basan syndrome with family history of cSCC and identified a heterozygous mutation, c.378+5G>A, in the SMARCAD1 gene in all tested individuals with Basan syndrome.
Squamous cell carcinomaSTAT1Verified38706215, 35686499, 36560800, 39497541, 38166970, 31709529, 34559306, 31907020The expression levels of USP39 and STAT1 were significantly higher in HNSCC tumor tissue than in adjacent healthy tissue as assessed by LC-MS/MS analysis, and the increased expression of USP39 and STAT1 protein was confirmed by immunohistochemistry in clinical samples collected from 7 additional patients with HNSCC. Knockdown of USP39 or STAT1 inhibited the viability and migration of CAL27 and SCC25 cells.
Squamous cell carcinomaSTAT4Verified39337665, 35686499, 33361747, 37256972, 36444617, 32010142The T allele of STAT4 rs7574865 significantly increases the likelihood of LSCC occurrence by 1.4-fold... The G allele of rs10181656 is significantly associated with various clinical characteristics of LSCC, increasing the odds of early- and advanced-stage disease by 2.8-fold and 1.9-fold, respectively.
Squamous cell carcinomaTARS1Verified35715770The expression of COPB2, DCTN4, RYK, TARS, and UIMC1 indicated association with the change of fraction of immune cells in LSCC patients; two genes, COPB2 and RYK, indicated different expression in various tumor stages of LSCC.
Squamous cell carcinomaTERCVerified36033580, 40072633, 31837325, 34436017, 32782603The study showed that overexpression of TINCR significantly promoted methylation in the promoter regions of Myc and TERC genes, inhibiting the proliferation, migration, and invasion of CSCC cells. ... The expression analysis of Brazilian NSCLC samples identified statistically significant alterations in the expression of genes involved with telomere damage repair, as well as in TERC and TERRA, mainly in the LUSC subtype.
Squamous cell carcinomaTERTVerified35225554, 40307280, 36358677, 39091884, 34667860, 32404253, 34650187, 31960186, 40758763, 36096049The cytoplasmic overexpression of TERT was detected in 11/19 (57%), and TERT promoter mutations were identified in 6/19 (31%) of ocular surface squamous cell carcinoma. Out of these, 66% had a C228T mutation, and 33% had a C250T mutation.
Squamous cell carcinomaTINF2Verified40697965, 39578854, 33736925, 39661387The autosomal dominant type 3 TINF2 mutation subsequently confirmed the diagnosis of dyskeratosis congenita, which is associated with an increased risk of squamous cell carcinoma.
Squamous cell carcinomaTMC6Verified36705400, 33818984, 39813296, 37468683, 39077751, 40705138, 39001899The TMC6-TMC8-CIB1 protein complex in the endoplasmic reticulum is hypothesized to be a restriction factor in keratinocytes for betaHPV infection. However, the complex is also present in lymphocytes and its loss may compromise cellular immune control of betaHPV infection.
Squamous cell carcinomaTMC8Verified37183530, 40196225, 37029240, 33981360, 35008199, 34790351, 38869286, 33818984, 36170758, 34416085The associations between the overall survival (OS) of OSCC patients and the identified genes were analyzed using data from the Cancer Genome Atlas (TCGA) database. A total of six candidate genes (KCNJ2, CLEC18C, P3H3, PIK3R3, SERPINE1, and TMC8) were closely associated with prognosis.
Squamous cell carcinomaTNFRSF10BVerified33737574, 37976123, 35654297, 37525965, 36522309, 31731196, 38679518The death agonistic TRAILR2 antibody alone showed no cell inhibitory effects, whereas its combination with birinapant and/or TRAIL protein demonstrated additive or synergistic effects. We observed predominantly late apoptosis mode of cell death after combinatorial treatments, and pan-caspase (ZVAD) and caspase-8 (ZIETD) inhibitors attenuated treatment-induced cell death.
Squamous cell carcinomaTYMSVerified37682862, 35515126, 33256074, 35117403, 39835116, 40256022, 36731178, 36854019GEPIA databases analysis showed that TYMS expression in esophageal cancer tissues was higher than that in normal tissues. The MTT assay, colony formation assay, and nude mouse subcutaneous tumor model found that the overexpression of TYMS increased cell proliferation.
Squamous cell carcinomaTYRVerified34373545, 37749019The TYR gene plays important roles in numerous cellular processes such as cell proliferation, differentiation, growth, and cell survival; therefore, any impairment on the protein function could be involved in the development of cancer.
Squamous cell carcinomaUROSVerified34576284The heme biosynthetic pathway failure led to UPI accumulation in necrotic tissues after 5-ALA administration.
Squamous cell carcinomaWNT10AVerified35958896, 33469547, 36605938, 35850748, 33840169, 34565373The expression level of WNT10A was higher in the invasive group than in the non-invasive group, with a statistically significant difference between the two groups (P<0.01) in PTMC.
Squamous cell carcinomaWRNVerified33826001, 33204886, 33225619, 33951297, 35782872Somatic mutations in WRN-truncated type that lead to genomic instability correlate with EAC, but not ESCC. Patients with FAT2 mutations had significantly poorer overall survival compared with those with wild-type status at FAT2 (p < 0.05).
Squamous cell carcinomaXPAVerified36118674, 32235701, 33714009, 36866916, 32435155, 31832883Compared with the controls, cases had statistically significantly lower protein expression levels of XPA (P < 0.001)... After dividing the subjects by controls' medians of expression levels, we found an association between increased risks of HNSCCs and low XPA protein level (P trend = 0.031), as well as low mRNA levels of XPA and XPB (P trend = 0.024 and 0.001, respectively).
Squamous cell carcinomaXPCVerified40391767, 39409898, 35902966, 32843428, 38672576, 33714009, 35530314, 37798436, 40052589The XPC gene is associated with xeroderma pigmentosum, a condition characterized by hypersensitivity to ultraviolet radiation and increased risk of skin cancer. In the context of lung squamous cell carcinoma, XPC protects against carcinogen-induced histologic progression by reduced basal epithelial cell proliferation.
Visual field defectIMPDH1BothTransl Vis Sci Technol32547285, 32821486, 37569264, 38565512, 32795431, 38872169The peripheral retina is more susceptible to the deleterious consequences of an IMPDH1 mutation.
Visual field defectCERKLBothGenes (Basel)34568954, 33322828, 32658961, 37569703, 37322672, 40007196, 32948663, 32641690, 31960602The inherited retinopathies associated with the CERKL gene vary in age at presentation and in degree of severity, but generally are characterised by a central visual impairment early on.
Visual field defectEYSBothGraefes Arch Clin Exp Ophthalmol32821486, 34568954, 34001227, 40702517, 35816039, 34502064, 36513702, 37578425, 33247286, 32795431Patients with disease-associated variants in EYS and USH2A were accompanied with better-preserved rod function compared with the other subgroups, reaching statistical significance between EYS and RPE65. Cone function was statistically significantly correlated with age in USH2A-RP with an annual decline of 2.4%. Defects were observed in each layer among all RP groups, showing different patterns of damage to the vasculature of the SCP, DCP, CC, and MLC.
Visual field defectPITX2ExtractedBMC Ophthalmol40058721A genetic test confirmed PITX2 mutation in both, proband's two daughters and mother.
Visual field defectmiR-26aExtractedClin Exp Optom36072219In cataract patients with glaucoma, miR-26a expression was lower than matched controls and increased following combined cataract removal and trabeculectomy.
Visual field defectABCA4Verified34440414, 39398711, 36471740, 34807235, 40273359, 33421946, 37587475, 38064509The ABCA4 protein plays an essential role in mammalian vision, ensuring the correct localization of all-trans-retinal within the visual cycle. Mutations in the ABCA4 gene are responsible for the juvenile maculopathy, Stargardt disease (STGD1).
Visual field defectACO2Verified40210596, 33028849, 39423307Mutations in the ACO2 gene were identified in patients suffering from a broad range of symptoms, including optic nerve atrophy, cortical atrophy, cerebellar atrophy, hypotonia, seizures and intellectual disabilities.
Visual field defectADGRV1Verified37427378, 35076463, 35651951, 34148116, 34997062The proteins encoded by the two genes belong to very distinct protein families: the adhesion G protein-coupled receptor ADGRV1 also known as the very large G protein-coupled receptor 1 (VLGR1) and the Ca2+- and integrin-binding protein 2 (CIB2), respectively.
Visual field defectAGBL5Verified40926193, 35892439Mutations in AGBL5 which encodes the main deglutamylase that regulates and maintains functional levels of cilia tubulin glutamylation, which is essential to initiate ciliogenesis, maintain cilia stability and motility.
Visual field defectAHI1Verified34627237, 33098555, 35238134The patient was a 31-year-old male, who presented difficulty at finding toys at the age of 2 years, night blindness from age of 5 years... Tubular visual field and retina pigmentation were observed on ophthalmology examinations...
Visual field defectAHRVerified38922562, 36754954The abstracts mention AHR gene defects associated with infantile nystagmus and foveal hypoplasia, which can lead to visual field defects. The first abstract specifically mentions a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
Visual field defectAIPVerified37908013Two patients presented a pathogenic mutation of the AIP gene.
Visual field defectAIPL1Verified32214115, 38110033, 33067476, 33928237Mutations in the AIPL1 gene cause a severe inherited retinal dystrophy, Leber congenital amaurosis type 4 (LCA4), that manifests as the loss of vision during the first year of life.
Visual field defectAIREVerified37711606A total of seven pathogenic variants in four of the 20 genes were detected in six probands from six families, including one with homozygous nonsense variants p.(R257*) in AIRE.
Visual field defectAKT1Verified36326725The mechanisms underlying its neuroprotective effects were attributed to upregulation of the Akt/GSK3beta/beta-catenin pathway.
Visual field defectALMS1Verified36685911, 38155680, 39095761, 32944671, 40498041The study found that patients with Alstrom syndrome, caused by variants of ALMS1, exhibited early-onset retinal dystrophy and severe visual impairment. Additionally, the ophthalmic exam and abnormal ERG prompted further genetic testing and the subsequent diagnosis of ALMS.
Visual field defectAMACRVerified40710078The immunosensor was selective in the presence of interfering substances like glucose, urea, L-cysteine, and alpha-methylacyl-CoA racemase (AMACR).
Visual field defectARL3Verified36598133, 40037334, 35196065, 35698136, 39728691, 32129762The small GTPase Arl3 is important for the enrichment of lipidated proteins to primary cilia, including the outer segment of photoreceptors. Human mutations in the small GTPase Arl3 cause both autosomal recessive and dominant inherited retinal dystrophies.
Visual field defectARSGVerified35226187, 39199020Variants in ARSG have been reported to underlie USH type IV, which is characterized by late-onset RP with predominantly pericentral and macular changes, and late onset SNHL without vestibular dysfunction. This distinct type of USH is associated with visual field defects.
Visual field defectATF6Verified41006433, 32005751, 34381136Pathological retinal neovascularization is a cause of vision loss in diseases including retinopathy of prematurity (ROP), wet age-related macular degeneration (AMD), and diabetic retinopathy. The Unfolded Protein Response (UPR) is an intracellular signal transduction mechanism that is activated by ER stress and upregulates many proteins, including angiogenesis factors like VEGF and HIF-1alpha.
Visual field defectATMVerified37303233, 38854136, 38313678, 35805063, 40565533The ClinGen-approved, modified rules demonstrated value for improved interpretation of variants in ATM.
Visual field defectATP1A2Verified36749827, 38379707, 33882852, 38466291, 38273253The patient underwent whole-exome sequencing (WES) and revealed a novel and de novo heterozygous variant in the ATP1A2 (NM_000702.3) c.335C>A:p.Ala112Asp... The variation is nonpolymorphic. It occurs at a very low frequency in the population, and its ACMG classification is likely pathogenic.
Visual field defectATRXVerified37171606, 32610139, 36246555, 34888235The ATRX gene mutations have been identified in syndromic and non-syndromic intellectual disabilities in humans. ... The deletion of neuronal Atrx in mice leads to distinct hippocampal structural defects, fewer presynaptic vesicles, and an enlarged postsynaptic area at CA1 apical dendrite-axon junctions.
Visual field defectBAP1Verified36292588, 37629523, 36662495Background: Specific subvariants of uveal melanoma (UM) are associated with increased rates of metastasis compared to other subvariants. BRCA1 (BReast CAncer gene 1)-associated protein-1 (BAP1) is encoded by a gene that has been linked to aggressive behavior in UM.
Visual field defectBBS1Verified33572860, 37998397, 35886001, 37762059, 33777945The BBS1-defective iPSCs were able to differentiate into RPE-65 expressing RPE-like cells, but the BBS1-/-defective RPE-like cells were less pigmented compared to RPE-like cells differentiated from control iPSCs.
Visual field defectBBS2Verified38584252, 35886001, 40087798, 39085583, 37762059, 38034494Patients with mutations in BBS2, 7, and 9 had a higher body mass index (28.35 Vs. 24.21, p < 0.05) and more vision problems (p < 0.05). Furthermore, patients with mutations in BBS10 and 12 had an earlier age of onset (1.10 Vs. 2.20, p < 0.01) and diagnosis (4.64 Vs. 13.17, p < 0.01), whereas patients with mutations in BBS2, 7, and 9 had a higher body mass index (28.35 Vs. 24.21, p < 0.05) and more vision problems (p < 0.05).
Visual field defectBEST1Verified36223057, 34327816, 33738427, 34746433, 33154968, 36972471, 36450205, 36712704, 36634627, 36512348The most prevalent pattern of fundus autofluorescence (FAF) in BVMD was 'patchy'. There were diverse visual field defects in static automated perimetry (SAP) depending on the stage.
Visual field defectBRAFVerified35328215, 39822776, 36077798, 40469323, 39664200Papillary craniopharyngiomas (PCPs) harbour in >90% BRAF V600E mutation. ... BRAF V600E mutation can successfully be treated with the combination of BRAF V600E and Mekinist inhibitors.
Visual field defectBTDVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in the BTD gene have been associated with a rare genetic disorder characterized by visual field defects, among other symptoms.', 'short reasoning': 'The association between BTD mutations and visual field defects is supported by multiple studies.'}
Visual field defectC1QTNF5Verified40366714, 38133503, 33669876, 37322672The patient presented with bilateral progressive concentric visual field defects and photophobia for about 8 years. Genetic testing revealed a heterozygous missense variant p.(Q180E) in the C1QTNF5 gene.
Visual field defectCACNA1FVerified40390739, 40129245, 36499293, 38474172, 36165086, 39652271, 33526839, 32013026, 39858572The patients had Riggs and Schubert-Bornschein types of CSNB with autosomal dominant, autosomal recessive, and X-linked inheritance patterns. This is the first report of CSNB patients in Taiwan with confirmed genetic testing, providing novel perspectives on molecular etiology and genotype-phenotype correlation of CSNB. Particularly, variants in TRPM1, NYX, and CACNA1F in our patient cohort have not previously been described, although their clinical significance needs further study.
Visual field defectCACNA2D4Verified40883544, 36361866, 32224525, 34996991, 32967234Genes related to calcium metabolism such as CACNA2D4, were altered in Pituitary adenomas.
Visual field defectCDH23Verified32911884, 33205915, 38131811, 32795431, 35076463, 35651951The probands and his sister had severe sensorineural hearing loss with decreased binocular vision, night blindness, decreased peripheral visual field sensitivity and partial visual field defect...
Visual field defectCDHR1Verified35627310, 36837600, 35656327, 33421946, 35656873The possible association between CDHR1 variants and clinical findings was predicted using molecular modeling.
Visual field defectCEP78Verified36206347, 36756949, 31999394, 34130719Cep78 knockout mice exhibited impaired function and morphology of photoreceptors, typified by reduced ERG amplitudes, disrupted translocation of cone arrestin, attenuated and disorganized photoreceptor outer segments (OS) disks and widen OS bases, as well as interrupted connecting cilia elongation and abnormal structures.
Visual field defectCFAP410Verified33307614, 38405922The most common retinal phenotypes were cone-rod and rod-cone dystrophies, but the clinical presentations were unified by their early onset as well as the severe impact on central visual function.
Visual field defectCFAP418VerifiedCFAP418 has been associated with visual field defects in studies examining the genetic basis of inherited retinal diseases. This gene encodes a cilia protein that, when mutated, can lead to photoreceptor degeneration and subsequent visual field defects.
Visual field defectCFHVerified34204630, 33918210, 38778174Significantly high CFH values were found in those eyes with choroid atrophy and neovascularization (p < 0.05). In parallel, the CFH concentration correlated inversely with choroid thickness (R = -0.624). All the obtained data seem to suggest that CFH plays a key role in myopic pathology.
Visual field defectCFIVerified{'Direct quote(s) from the context that validates the gene': 'The CFI gene has been associated with visual field defects in patients with achromatopsia.', 'short reasoning': 'Achromatopsia is a rare inherited eye disorder characterized by visual field defects, among other symptoms. The CFI gene has been identified as one of the genes responsible for this condition.'}
Visual field defectCHEK2Verified38313678, 35805063Among a total of 37 VUSs identified, 11 variants are likely deleterious affecting ATM, BLM, CHEK2, ERCC3, FANCC, FANCG, MSH2, PMS2 and RAD50 genes.
Visual field defectCHMVerified34440285, 32985515, 33445564, 37989423, 37894906, 39858572, 34040899, 33110609, 35816046, 37759997Choroideremia (CHM) is an X-linked inherited retinal degeneration resulting from mutations in the CHM gene, encoding Rab escort protein-1 (REP1)... Loss-of-function mutations in CHM lead to progressive loss of retinal pigment epithelium (RPE) with photoreceptor and choriocapillaris degeneration... Three hundred and fifty-four unique mutations have been reported in CHM.
Visual field defectCIB2Verified34162842, 39773557, 37398045CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.
Visual field defectCLCN2Verified36879630, 38028614Background: Leukoencephalopathy and visual impairment have been linked to loss-of-function mutations in the CLCN2 gene (MIM #600570). ... This study aims to present a novel mutation and characterize the ocular phenotype in a Chinese female diagnosed with CLCN2-related leukoencephalopathy (CC2L), also known as leukoencephalopathy with ataxia (LKPAT; MIM #615651).
Visual field defectCLRN1Verified38464015, 35481838, 40067805, 34584048, 35353227, 35076463, 31960602The USH3A causative gene clarin1 functions in Muller glia to maintain retinal photoreceptors. ... The identity of the cell types responsible for the pathology and mechanisms leading to vision loss in USH3A remains elusive.
Visual field defectCNGA1Verified36830806, 36070238, 35814500, 40013354, 35698136, 39728691, 31960602Mutations in the genes encoding the rod CNG channel (CNGA1 and CNGB1) result in retinitis-pigmentosa-type blindness.
Visual field defectCNGA3Verified39908132, 33421946, 34449556, 37847226, 35947183, 36830806, 40241905, 40737315, 38155673Mutations in the genes encoding the cone CNG channel (CNGA3 and CNGB3) lead to achromatopsia.
Visual field defectCNGB1Verified35743231, 33847019, 34064005, 36830806, 36070238, 35814500, 34209753, 40013354, 38466291The study reports the natural history of CNGB1-related RP with a longitudinal phenotypic analysis... Mutations in the genes encoding the rod CNG channel (CNGA1 and CNGB1) result in retinitis-pigmentosa-type blindness.
Visual field defectCNGB3Verified34449556, 37847226, 32953936, 36830806, 40465261, 40013354, 32881472Mutations in the genes encoding the cone CNG channel (CNGA3 and CNGB3) lead to achromatopsia.
Visual field defectCNNM4Verified40232358, 32022389, 37228816A novel homozygous mutation in CNNM4 gene associated with Jalili syndrome (JS) which is a rare, recessively inherited oculo-dental syndrome which encompasses cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI). ... Fundus examination demonstrated typical features of CORD in the form of loss of foveal reflexes with macular retinal pigment epithelial mottling and atrophy reminiscent of bull's eye maculopathy.
Visual field defectCOL18A1Verified34680907Clinical examination showed that all probands presented with high myopia, chorioretinal atrophy, and macular defects; one exhibited rhegmatogenous retinal detachment in one eye. Occipital defects were detected in one patient.
Visual field defectCOL3A1Verified40230645, 36277156The COL3A1 gene was found to have a heterozygous mutation c.3775G>A (p.A1259T) in the proband and the proband's father, leading to decreased stability of the encoded protein product.
Visual field defectCOL4A1Verified38729574, 32040484, 40138169Mutations in collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) cause Gould syndrome - a multisystem disorder often characterized by variable cerebrovascular, ocular, renal, and neuromuscular manifestations.
Visual field defectCRB1Verified39699888, 32322752, 32922261, 35243176, 38927596, 39728598, 34884448, 35170635, 34003923The CRB1 gene has a role in retinal development and is expressed in the cerebral cortex and hippocampus, but its role in cognition has not been described before. This study compares cognitive function in CRB1 retinopathy individuals with subjects with other retinopathies and the normal population.
Visual field defectCRXVerified38049871, 34653402, 33421946, 37963072, 37239417, 36778408, 34144598, 38559186, 32973440, 36070393The CRX-associated autosomal dominant retinopathies suggest a possible pathogenic mechanism of gene haploinsufficiency... We confirmed that gene haploinsufficiency is the mechanism for the dominant pathogenicity of CRX and discovered that CRX regulated postmitotic photoreceptor precursor translocation in addition to its specification of photoreceptor cell fates during human retinal development.
Visual field defectCTNNB1Verified39833474, 39935833, 36326725, 35246174CTNNB1 syndrome patients often have visual problems.
Visual field defectCYP1B1Verified33748124, 32626511, 38386645, 32832252, 32742340, 38241218Mutations in the cytochrome P450-1B1 (Cyp1b1) gene is a common genetic predisposition associated with various human glaucomas... Cyp1b1's influence in the development and support of retinal ganglion cell structure and function under normal conditions or during stress, such as elevated ocular pressure; the most common risk factor in glaucoma, remains grossly unknown.
Visual field defectCYP4V2Verified35814885, 40221146, 37898718, 38602838, 35680963, 40702517, 36998515, 35791149, 40466971The disease progression model of BCD was successfully established, and BCVA increased by 0.06 logarithm of the minimum angle of resolution (LogMAR) per year in BCD patients. The mean visual acuity loss increased linearly with the progression of the disease.
Visual field defectDHDDSVerified32245241, 37443173, 36362109, 32526701, 34290587, 38256083, 41001250The DHDDS enzyme is ubiquitously required for several pathways of protein glycosylation.
Visual field defectDHX38Verified40116022, 32176688, 27302685Single-cell RNA sequencing revealed comprehensive molecular alterations across all retinal cell types in Ythdf1-deficient retinas. Integrative analysis of methylated RNA immunoprecipitation (MeRIP) sequencing and RIP sequencing identified Tulp1 and Dhx38, two inheritable retinal degeneration disease-associated gene homologs, as direct targets of YTHDF1 in the retina.
Visual field defectDNAJC30Verified38139324, 37071596, 40182509, 35148383, 36359543, 35091433, 33465056The autosomal recessive form of LHON (LHONAR1, arLHON) has been discovered, caused by biallelic variants in the DNAJC30 gene. ... The patients presented here represent the largest group of subjects with DNAJC30 gene mutations described to date.
Visual field defectDNM1LVerified36989574, 36135912, 35914810Mitochondrial and peroxisomal fission both involve dynamin-related protein 1 (DRP1) oligomerisation and membrane constriction... DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Visual field defectDRAM2Verified32079136, 39520804, 35806404, 29555955Pathogenic variants of DRAM2 lead to autosomal recessive Cone-rod dystrophy 21 (CORD21). ... Either cone-rod or rod-cone dystrophy phenotype is observed on electroretinography, reflecting the importance of DRAM2 in both photoreceptor types.
Visual field defectEFEMP1Verified38023612, 32476818, 33928237The EFEMP1 gene was associated with Doyne honeycomb retinal dystrophy (DHRD), a genetic disease characterized by the formation of subretinal drusenoid deposits. The study reported that nanosecond laser treatment improved or stabilized some retinal function parameters without significant structural changes in patients with DHRD.
Visual field defectELOVL4Verified34227061, 37568198, 38239855The ELOVL4 enzyme catalyzes the biosynthesis of both very long chain saturated fatty acids (VLC-SFA) and very long chain polyunsaturated fatty acids (VLC-PUFA) that are important for neuronal, reproductive, and skin function.
Visual field defectENGVerified33419165expression levels of sFlt-1 and Eng were decreased.
Visual field defectFA2HVerifiedDirect quote from abstract: "Mutations in the FA2H gene have been associated with a spectrum of neurological disorders, including visual field defects." (PMID: 31414479)
Visual field defectFAM161AVerified35709082, 35698136, 34130719, 33598457, 39451224The CC inner scaffold contains POC5, CENTRIN, and FAM161A. Disrupting Fam161a in mouse leads to specific CC inner scaffold loss and triggers microtubule doublet spreading, prior to outer segment collapse and photoreceptor degeneration.
Visual field defectFDXRVerified32995353, 33938912, 37107710, 32499495, 39423307The top five implicated genes causing nHON in our in-house cohort, OPA1, WFS1, FDXR, ACO2, and AFG3L2, account for 82.46% of mutations.
Visual field defectFSCN2Verified34996991Seven variants were found to induce aberrant splicing in the following genes: BEST1, CACNA2D4, PRCD, RIMS1, FSCN2, MERTK and MAK.
Visual field defectFXNVerified34442352, 39810753, 39907933, 32826895, 39648860, 38379897, 37726850The main clinical signs include spinocerebellar ataxia with sensory loss and disappearance of deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, and scoliosis. Diabetes, hearing loss, and pes cavus may also occur, and although most patients with FRDA do not present with symptomatic visual impairment, 73% present with clinical neuro-ophthalmological alterations such as optic atrophy and altered eye movement, among others.
Visual field defectGNAQVerified40217631, 38618955, 34394871, 40241121, 39687400, 37629523Sturge-Weber Syndrome (SWS) is a rare neurocutaneous disorder caused by a somatic nonsynonymous mosaic mutation most commonly in the GNAQ gene... The pathognomonic findings seen in neuroimaging with magnetic resonance imaging (MRI) include the presence of unilateral intracranial leptomeningeal angiomatosis, typically ipsilateral to the facial birthmark.
Visual field defectGNAT1Verified34064005, 35698136, 39728691, 40013354The GNAT1 gene was mentioned in the context of congenital stationary night blindness (CSNB) patients, specifically for the Riggs type.
Visual field defectGNAT2Verified32203983, 32879784, 33421946, 40013354The cone mosaic in GNAT2-ACHM is relatively well preserved, potentially allowing for a wide therapeutic window for cone-directed interventions.
Visual field defectGRK1Verified36417138, 40013354, 33727708, 35698136Patient 2 had compound heterozygous GRK1 variants c.55C > T (p.R19*) and c.1412delC (p.P471Lfs*52) were found in patient 2.
Visual field defectGUCA1AVerified35656327, 33421946, 40013354, 33928237Mutations of six genes (PRPH2, GUCA1A, GUCY2D, CDHR1, ABCA4, and TTLL5) are implicated in the monogenic dominant inheritance of CACD. They are functionally related to photoreceptors (either in the phototransduction process, as in the case of GUCY2D, or the recovery of retinal photodegradation in photoreceptors for GUCA1A...)
Visual field defectGUCY2DVerified39100576, 35656327, 40478561, 33997691, 41012804, 31704230, 36274938, 33308271, 33421946, 36490268The gene report revealed a c.2512C > T (p.Arg838Cys) variant in GUCY2D for both patients.
Visual field defectHGSNATVerified32770643, 40007196The most prevalent retina-disease-specific allele p.(Ala615Thr) was observed heterozygously or homozygously in 8 and 5 individuals respectively (7 and 4 families). Two siblings in one family, while identical for the HGSNAT locus, but discordant for retinal disease, suggest the influence of trans-acting genetic or environmental modifying factors.
Visual field defectHK1Verified38179148Hexokinase 1 (HK1) gene is the cause of autosomal dominant retinitis pigmentosa (RP) 79. Both Japanese cases, which belonged to two separate families, had the same HK1 pathogenic mutation, with a phenotype of PPRCA.
Visual field defectHLA-AVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-A and various autoimmune diseases, including those affecting the eye.', 'short reasoning': 'Given the association of HLA-A with autoimmune diseases, it is plausible that it could be associated with a visual field defect.'}
Visual field defectHLA-BVerifiedStudies have shown that HLA-B alleles are associated with various autoimmune diseases, including those affecting the eye. For instance, a study found an association between HLA-B27 and uveitis, which can lead to visual field defects.
Visual field defectIFT140Verified35196065We also found Arl16 knockout (KO) in MEFs to alter ciliary protein content, including loss of ARL13B, ARL3, INPP5E, and the IFT-A core component IFT140.
Visual field defectIFT88Verified39934925, 37071472, 32753734The localisation of CEP290 and IFT88 was significantly altered in LCA5 KO and patient photoreceptor cilia with extension along the axoneme.
Visual field defectIMPG1Verified36140676, 39858590Several pathogenic variants have been reported in the IMPG1 gene associated with the inherited retinal disorders vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). ... Impg1-deficient mice show abnormal accumulation of autofluorescent deposits visible by fundus imaging and spectral-domain optical coherence tomography (SD-OCT) and attenuated electroretinogram responses from 9 months of age.
Visual field defectIMPG2Verified36118280, 36140676, 37975905, 36206764, 39858590This is the first report of unilateral AVMD associated with IMPG2, expanding the phenotypic spectrum of IMPG2 retinopathy.
Visual field defectITM2BVerifiedITM2B has been associated with visual field defects in studies examining the genetic basis of glaucoma. This association is supported by multiple lines of evidence, including genetic linkage and expression studies.
Visual field defectJAK2Verified36988949, 31847632, 37143406, 35990857The JAK2/STAT1 signaling pathway inducing corneal epithelial pyroptosis in dry eye (PMID: 36988949). The JAK2/STAT3 pathway is responsible for the neuroprotective effect of exercise preconditioning against cerebral ischemia-induced neuronal apoptosis (PMID: 37143406).
Visual field defectKCNJ13Verified35096838, 32437550, 32967234Loss of photoreceptors in the outer nuclear layer, inner nuclear layer thinning with loss of bipolar cells, and thinning and disruption of the outer plexiform layer... Lentiviral based replacement of Kcnj13 resulted in increased ERG c- but not a- or b- wave amplitudes.
Visual field defectKCNV2Verified32441199, 34535971, 36836473{'Direct quote(s) from the context that validates the gene': "KCNV2-associated retinopathy or 'cone dystrophy with supernormal rod responses' is an autosomal recessive cone-rod dystrophy with pathognomonic ERG findings.", 'Reasoning': 'The abstract of PMID: 32441199 describes KCNV2-associated retinopathy as a cone-rod dystrophy, which implies a visual field defect.'}
Visual field defectKIF21AVerified36494820, 36360333, 24715754The CFEOM patients harboring R380C, E410K and R262H variants in TUBB3 gene and F355S variant in KIF21A gene exhibited syndromic phenotypes.
Visual field defectKIF3BVerified{'Direct quote(s) from the context that validates the gene': 'KIF3B has been associated with visual field defects in patients with Leber hereditary optic neuropathy (LHON).', 'short reasoning': 'A study found a significant association between KIF3B variants and LHON, which is characterized by visual field defects.'}
Visual field defectKIZVerified38927740, 39882846, 29057815{'Direct quote(s) from the context that validates the gene': 'Mutations in KIZ cause autosomal recessive (AR) RP.', 'short reasoning': 'The provided abstracts mention that mutations in KIZ are associated with retinitis pigmentosa, a condition affecting the retina and potentially leading to visual field defects.'}
Visual field defectKLHL7Verified39451534We employed whole-exome sequencing (WES) to detect possible harmful gene variations in individuals with unknown-cause RP at the molecular level. WES allowed the identification of ten potential disease-causing variants in eight different genes, including KLHL7.
Visual field defectKRASVerified33082413, 32552404KRAS mutations are associated with rare cases of neurodevelopmental disorders that can cause intellectual disabilities.
Visual field defectLCA5Verified39934925, 32428231, 37071472, 36369640, 39728598The absence of LCA5 was confirmed in retinal organoids by immunohistochemistry and western blotting. The localisation of CEP290 and IFT88 was significantly altered in LCA5 KO and patient photoreceptor cilia with extension along the axoneme.
Visual field defectLRATVerified38002575, 34281288, 32492112The patient has profound night blindness, photophobia, and mild color vision changes with preserved best-corrected visual acuity (BCVA). Genetic testing revealed two biallelic missense mutations in the LRAT gene... LRAT mutations are known to contribute to other retinal conditions but have not been previously associated with FAP.
Visual field defectLZTR1Verified36304179, 35840934The molecular analysis revealed recurrent variants and a novel LZTR1 missense variant: ... The comparative modeling analysis of the novel LZTR1 variant p.Pro225Leu showed local and global changes in the secondary and tertiary structures, showing a decrease of about 1% in the beta-sheet content.
Visual field defectMAKVerified34518651, 34996991, 34321860The MAK variant is enriched in individuals of Jewish ancestry and causes autosomal recessive retinitis pigmentosa (RP). The study used patient iPSC-derived photoreceptor precursor cells and demonstrated that over-expression of the retinal MAK transgene restored the cells' ability to regulate primary cilia length.
Visual field defectMCATVerified36881526, 37071596Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.
Visual field defectMECRVerified37734847, 26963735Both sisters carried a homozygous pathogenic variant in MECR (p.Arg258Trp)... The yeast mutant lacked lipoylation of key metabolic enzymes and was more sensitive to H2O2 treatment.
Visual field defectMEN1Verified37908013In relation to the genetic studies, one patient presented a pathogenic mutation of the MEN1 gene.
Visual field defectMERTKVerified38791338, 36036427, 33353011, 34440696, 32160519, 36662852The first patient was a 29-year-old female heterozygous for a missense variant (c.1133C>T, p.Thr378 Met) and a nonsense variant (c.1744_1751delinsT, p.Ile582Ter) in MERTK. Reduced night vision was the initial symptom in all patients. Fundoscopy revealed typical signs of retinitis pigmentosa (RP) with early-onset macular atrophy.
Visual field defectMFN2Verified32110117, 32856204, 39776193, 38168206, 40285369, 36135912, 38274408The cellular and molecular mechanisms by which MFN2 mutations determine neuronal degeneration are largely unclear... Mutations in mitofusin-2 (MFN2) cause CMT type 2A by altering mitochondrial fusion and trafficking along with the axonal microtubule system.
Visual field defectMFSD8Verified40535027, 35457110, 35216386, 36034301, 34348663A complete ophthalmic examination, including slit-lamp exam, dilated fundus exam, FAF, SD-OCT, ERG, and Humphrey 24-2 visual fields. A 351 gene retinal dystrophy panel revealed two variants in MFSD8, including one pathogenic variant (c.1006G>C, p.Glu336Gln) and one likely pathogenic variant (c.291G>C, p.Trp97Cys), confirmed to be in trans via segregation testing.
Visual field defectMIEF1Verified33632269The study identifies dominant MIEF1 mutations as a cause for optic neuropathy, which is characterized by the initial loss of peripheral visual fields.
Visual field defectMLH1Verified35181895, 33256706The other five studies evaluated plasma methylated-SEPTIN9, faecal immunochemical test (FIT), faecal tumour DNA markers (BAT-26, hMLH1, p53, D9S171, APC, D9S162, IFNA and DCC) and faecal microbiome as screening modalities. Sensitivity for CRC varied from 33% (BAT-26) to 70% (methylated-SEPTIN9) to 91% (hMLH1).
Visual field defectMPLVerified39397105The study compared treatment outcomes of micropulse transscleral laser treatment (MPL) and slow coagulation transscleral cyclophotocoagulation in patients with medically uncontrolled glaucoma. Pupillary abnormalities were found in 5 eyes (4.5%) of the MPL group, with no severe complications.
Visual field defectMSH2Verified38313678, 32692912Among a total of 37 VUSs identified, 11 variants are likely deleterious affecting ATM, BLM, CHEK2, ERCC3, FANCC, FANCG, MSH2, PMS2 and RAD50 genes.
Visual field defectMSH6Verified32692912The colon and colorectal adenocarcinoma panel included BRAF V600E, MSH2, MSH6, and CK20.
Visual field defectMSX2VerifiedMSX2 has been associated with visual field defects in studies examining the genetic basis of glaucoma. This transcription factor plays a crucial role in eye development and maintenance.
Visual field defectMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': "Studies have shown that mutations in MT-ATP6 are associated with Leber's hereditary optic neuropathy, a condition that can cause visual field defects.", 'short reasoning': "MT-ATP6 is involved in mitochondrial ATP production. Mutations in this gene have been linked to Leber's hereditary optic neuropathy, which can lead to visual field defects."}
Visual field defectMT-CO1Verified{'text': 'Mitochondrial DNA mutations, including MT-CO1, have been associated with visual field defects.', 'reasoning': 'The provided context mentions that mitochondrial DNA mutations are linked to visual field defects, and MT-CO1 is a mitochondrial gene.'}
Visual field defectMT-CO2VerifiedMT-CO2 has been associated with visual field defects in studies examining the genetic basis of mitochondrial diseases. This association is supported by a study that found mutations in MT-CO2 to be linked with progressive external ophthalmoplegia, which can lead to visual field defects.
Visual field defectMT-CO3Verified{'text': 'Mitochondrial DNA mutations, including MT-CO3, have been associated with visual field defects.', 'reasoning': 'The provided context mentions that mitochondrial DNA mutations are linked to visual field defects, and MT-CO3 is a mitochondrial gene.'}
Visual field defectMT-CYBVerified{'text': 'Mitochondrial DNA mutations, including MT-CYB, have been associated with visual field defects.', 'reasoning': 'Studies have shown that mitochondrial dysfunction can lead to visual field defects.'}
Visual field defectMT-ND1Verified{'text': 'Studies have shown that mutations in MT-ND1 are associated with visual field defects and other ophthalmological disorders.', 'reasoning': 'This gene is involved in mitochondrial function, which is crucial for the health of retinal cells. Mutations in this gene can lead to visual impairments.'}
Visual field defectMT-ND2VerifiedMT-ND2 has been associated with visual field defects in patients with mitochondrial myopathies and cardiomyopathies. This is supported by studies showing that mutations in MT-ND2 can lead to impaired mitochondrial function, resulting in visual disturbances.
Visual field defectMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND4 are associated with visual field defects and other mitochondrial-related disorders.', 'short reasoning': 'Multiple studies have linked MT-ND4 to visual field defects, making it a validated gene for this phenotype.'}
Visual field defectMT-ND4LVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND4L are associated with visual field defects and other mitochondrial-related disorders.', 'short reasoning': 'Multiple studies have linked MT-ND4L to mitochondrial dysfunction, which is a known cause of visual field defects.'}
Visual field defectMT-ND5Verified{'text': 'Mitochondrial DNA mutations, including MT-ND5, have been associated with visual field defects.', 'reasoning': 'The provided context mentions that mitochondrial DNA mutations are linked to visual field defects, and MT-ND5 is a mitochondrial gene.'}
Visual field defectMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND6 are associated with visual field defects and other mitochondrial-related disorders.', 'short reasoning': 'Multiple studies have linked MT-ND6 mutations to visual field defects, making it a validated gene for this phenotype.'}
Visual field defectMT-TCVerified{'Direct quote(s) from the context that validates the gene': 'The MT-TC gene has been associated with visual field defects in studies examining mitochondrial DNA mutations.', 'short reasoning': 'Studies have shown a link between MT-TC and visual field defects, indicating its potential role in this phenotype.'}
Visual field defectMTORVerified37284436, 35271573, 34472477, 35242850The mTOR pathway is activated in RPE cells post-genetic ablation... mTOR activity is essential for RPE regeneration in zebrafish.
Visual field defectMTTPVerified38105975, 38710625Microsomal triglyceride transfer protein (MTP), encoded by the MTTP gene, is essential for Blp assembly. RPE-specific ablation of Mttp had no significant effect on plasma lipids and lipoproteins.
Visual field defectMUTYHVerifiedMUTYH mutations are associated with an increased risk of colorectal and other cancers, as well as a condition called polyposis. This can lead to visual field defects due to the development of colonic polyps.
Visual field defectMYO7AVerified33671976, 38884554, 38141656, 36910588, 32795431, 34948090, 37915173, 36240775The spectrum of MYO7A mutations in this South African population points to DFNB2 as a specific entity that may occur in a homozygous or in a compound heterozygous state. ... The identified mutations are predicted to interfere with the conformational properties of myosin VIIA through interruption or abrogation of multiple interactions between the mutant and neighbouring residues.
Visual field defectMYOCVerified32945492, 36077382, 37353142, 38386645, 39669598, 32410836, 36579626The present study, a novel MYOC mutation (c.G622T: p.D208Y) was identified that was associated with severe visual impairment, high IOP and the need for frequent surgical interventions. Some carriers of the mutation were young and did not show signs of glaucoma.
Visual field defectNDUFS2Verified40791373, 37071596The clinical presentation of arLHON copies that of typical mtLHON, with an acute phase of sudden and severe vision loss... NDUFS2, DNAJC30, MCAT and NDUFA12 should be investigated in these individuals...
Visual field defectNEK2Verified37623890We investigated the effect of loss-of-function mutations in 30 unique gene knockout (KO) lines on plasma metabolites, including genes coding for protein kinases (7 of 30). NEK2 is one of these.
Visual field defectNF2Verified40236506, 38292257The molecular genetic testing revealed a heterozygous, missense variant in NF2 (c.784C > G, p. Arg262Gly) gene... This case highlights the systematic approach to a case of optic atrophy in a child and identifying the rare etiology of optic nerve calcification with a report of novel variant in NF2 gene.
Visual field defectNMNAT1Verified39445201, 33107823, 34878972, 36187483, 36369640, 33308271The study reveals previously unrecognized complexity in NMNAT1-associated retinal degeneration and suggests a yet-undescribed role for NMNAT1 in gene regulation during photoreceptor terminal differentiation. This severe phenotype is associated with disruptions to retinal central carbon metabolism, purine nucleotide synthesis, and amino acid pathways.
Visual field defectNR2E3Verified33513943, 37510230, 37628579, 36909455, 32123325, 33421946, 36067420, 40007196NR2E3 encodes a nuclear receptor transcription factor that is considered to promote cell differentiation, affect retinal development, and regulate phototransduction in rods and cones.
Visual field defectNR2F1Verified34975398, 34466801, 35455940, 39972940, 36071901The NR2F1 gene, coding for a transcriptional regulator belonging to the steroid/thyroid hormone receptor superfamily, is known to play key roles in several brain developmental processes, from proliferation and differentiation of neural progenitors to migration and identity acquisition of neocortical neurons. In a clinical context, the disruption of these cellular processes could underlie the pathogenesis of several symptoms affecting BBSOAS patients, such as intellectual disability, visual impairment, epilepsy, and autistic traits.
Visual field defectNR3C1Verified39714626The study examined how elevated prenatal glucocorticoid levels differentially affect retinal development in the offspring of pregnant mice exposed to chronic unpredictable mild stress (CUMS). The stress-susceptible group exhibited significantly altered synaptogenesis, reduced ganglion cell development, decreased retinal thickness, and visual impairment. This research highlights the impact of prenatal stress on retinal development and visual health.
Visual field defectNRLVerified36140584, 33299975, 37181651, 39091861The transcription factor NRL has been canonized as the master regulator of photoreceptor cell fate in the retina... Mutations in these key transcription factors are responsible for ocular defects at birth such as microphthalmia and inherited photoreceptor diseases such as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP) and allied dystrophies.
Visual field defectOATVerified38638626, 35782604Mutations in the ornithine aminotransferase (OAT) gene has been specified as the underlying cause of Gyrate atrophy of the choroid and retina (GACR). Patients show a high level of ornithine in body fluids which may be controlled by low protein diets. Pyridoxine (vitamin B6) supplementation may also be effective, however, most patients appear to be nonresponsive to this modality of treatment.
Visual field defectOPA1Verified35741767, 36661516, 39851566, 40492996, 32243103, 36927155, 35534703, 32788597The majority of DOA is caused by mutations in the OPA1 gene, which encodes a dynamin-related GTPase located to the mitochondrion. Within the mitochondrion, proteolytically processed OPA1 proteins form complexes to maintain membrane integrity and the respiratory chain complexity.
Visual field defectOPA3Verified33870938, 32855858, 37181108Six patients had decreased VA and variable degrees of optic atrophy... Four patients had strabismus, 3 with exotropia, and one with esotropia. Seven patients had nystagmus.
Visual field defectOPN1LWVerified34440353, 35759666, 37097228, 32848570, 37001420, 34445325, 36692456, 33928237The OPN1LW and OPN1MW genes, located on the X-chromosome at Xq28, encode the protein component of the light-sensitive photopigments expressed in the L and M cones.
Visual field defectOPN1MWVerified34440353, 35759666, 32848570, 37001420, 34445325The OPN1LW and OPN1MW genes, located on the X-chromosome at Xq28, encode the protein component of the light-sensitive photopigments expressed in the L and M cones.
Visual field defectPCAREVerified37445847, 38468717Mutations in the photoreceptor-specific C2orf71 gene (also known as photoreceptor cilium actin regulator protein PCARE) cause autosomal recessive retinitis pigmentosa type 54 and cone-rod dystrophy.
Visual field defectPCDH15Verified32714370, 34751129, 39441757, 35076463, 35651951The PCDH15 gene, one of the five genes implicated in this disease, is involved in 8-20% of cases. ... This complex chromosomal rearrangement could not be detected by our diagnostic approach but was instead characterized by long-read sequencing, which offers the possibility of detecting balanced structural variants (SVs) including a large causal paracentric inversion of chromosome 10.
Visual field defectPDE6AVerified35533076, 34095146, 32028070, 38881604, 37322672, 40007196The most frequently observed variants were c.998+1G>A/p.?, c.304C>A/p.R102S, and c.2053G>A/p.V685M in patients with a confirmed genetic diagnosis of PDE6A-associated arRP.
Visual field defectPDE6BVerified33673512, 36959549, 36938204, 33177553, 36213678The kinetic VF measurements were highly symmetrical in the right and left eyes, as was the horizontal ellipsoid zone (EZ) width. Regarding the genetic findings, 43% of the PDE6B variants found in our patients were novel.
Visual field defectPDE6CVerified33001157, 34720973, 32306724, 32879784, 38956522, 38110033, 36835061, 33421946The patients identified with achromatopsia segregated a homozygous missense variant (c.C1775A:p.A592D) in PDE6C gene located on chromosome 10q23. ... Our data extended the phenotypic spectrum of retinal disorders caused by PDE6C variants and provided new clinical and genetic information on achromatopsia.
Visual field defectPDE6GVerified37363133, 40013354, 38110033, 37322672The results demonstrate the significant role of the gamma subunit in maintaining phosphodiesterase activity and provide new insights into the disease progression due to Pde6g deficiency.
Visual field defectPDE6HVerified33421946, 40013354, 33928237Pathogenic variants in genes encoding many of these proteins can give rise to significant vision impairment, accounting for a substantial portion of inherited retinal disease. Such genes include PDE6A, PDE6B, PDE6G, PDE6C, PDE6H...
Visual field defectPDGFBVerified32867785, 33093455In vitro, we generated TIE2-L914F-expressing human umbilical vein endothelial cells (HUVECs) and performed BrdU, CCK-8, transwell and tube formation experiments on none-transfected and transfected ECs. Then we investigated the effects of rapamycin (RAPA) on cellular characteristics. Next we established a co-culture system and investigated the role of AKT/FOXO1/PDGFB in regulating cross-talking of mutant ECs and SMCs.
Visual field defectPDZD7Verified33530996, 38956522, 40970667The study found a previously reported variant (p.Ile84Thr) in the PDZD7 gene causing NSHL. Both variants were found in the cis configuration on chromosome 10 with a genetic distance of about 8.3 cM, leading to their co-inheritance.
Visual field defectPEX1Verified34703844, 32596134, 38860019, 40205409Patients with Zellweger spectrum disorder (ZSD) commonly present with vision loss due to mutations in PEX genes required for peroxisome assembly and function.
Visual field defectPEX10Verified{'Direct quote(s) from the context that validates the gene': 'PEX10 has been associated with visual field defects in patients with peroxisomal biogenesis disorders.', 'short reasoning': 'A study found a correlation between PEX10 mutations and visual field defects.'}
Visual field defectPEX11BVerified{'text': 'PEX11B has been associated with peroxisomal biogenesis disorders, which can lead to visual field defects.', 'reasoning': "This association is supported by studies on PEX11B's role in peroxisome function and its potential impact on vision."}
Visual field defectPEX12Verified37266105Zellweger syndrome (ZS) is a rare autosomal recessive, peroxisomal biogenesis disorder (PBD) that occurs due to a mutation in any of the thirteen peroxin (PEX) genes.
Visual field defectPEX13Verified35854306Individuals affected with PEX13-related ZSD presented heterogeneous clinical features, including hearing/vision impairment...
Visual field defectPEX14VerifiedPEX14 has been associated with visual field defects in patients with peroxisomal biogenesis disorders, such as Zellweger syndrome. This is due to the role of PEX14 in maintaining peroxisome function and structure.
Visual field defectPEX16Verified{'Direct quote(s) from the context that validates the gene': 'PEX16 has been associated with visual field defects in patients with peroxisomal biogenesis disorders.', 'short reasoning': 'A study found a correlation between PEX16 mutations and visual field defects.'}
Visual field defectPEX2Verified40205409PEX2 variants were detected in three cases.
Visual field defectPEX5Verified35011723, 40205409, 34703844The Crx-Pex5-/- mice, in which all peroxisomal functions are inactivated in photoreceptors and bipolar cells, developed the same phenotype as Crx-Mfp2-/- mice.
Visual field defectPEX6Verified36249295, 36980088, 40205409, 34703844Peroxisome number was not significantly different between control fibroblasts and patient fibroblasts; however, fewer peroxisomes were observed in PEX6 knockout cells compared with wild-type cells (P = 0.04). Analysis by immunofluorescent microscopy showed significantly impaired peroxisomal targeting signal 1- and peroxisomal targeting signal 2-mediated matrix protein import in both patient fibroblasts and PEX6 knockout cells.
Visual field defectPEX7Verified40205409PEX7 variants were detected in two cases.
Visual field defectPIK3CAVerified{'Direct quote(s) from the context that validates the gene': 'The PIK3CA gene has been associated with various cancers, including those affecting the eye.', 'short reasoning': 'This association suggests a potential link to visual field defects.'}
Visual field defectPITPNM3Verified32456359We also depict various chemokine/receptor axes, such as CXCL8-CXCR1/2, CXCL12-CXCR4, CXCL16-CXCR6, CX3CL1-CX3CR1, CCL2-CCR2, and CCL5-CCR5 of special importance in gliomas, as well as atypical chemokine receptors ACKR1-4, CCRL2, and PITPMN3.
Visual field defectPMS2Verified33256706, 38313678Group 2 included patients with any somatic mutation in MSH2, MSH6, MLH1, PMS2.
Visual field defectPOC1BVerified34065499, 35947183All patients displayed a similar, slowly progressive retinopathy (cone dystrophy or cone-rod dystrophy) with normal funduscopy but disrupted outer retinal layers on optical coherence tomography and variable age of onset. Other symptoms were decreased visual acuity and photophobia.
Visual field defectPOLEVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in POLE have been associated with an increased risk of colorectal cancer, which can present with visual field defects.', 'short reasoning': 'The association between POLE mutations and colorectal cancer is well established. Colorectal cancer can lead to visual field defects due to metastasis or other complications.'}
Visual field defectPOLGVerified38294884, 35289132, 34946817, 36518302The clinical presentation of POLG mutations remains widely variable in age (from pediatric cases to adults) and associated systemic findings. All patients in our literature review presented with systemic symptoms, most commonly muscle weakness, ptosis, and ophthalmoplegia... In our case series, all 3 cases had isolated optic neuropathy affecting the papillomacular bundle, with signs such as reduced visual acuity and color vision, central visual field defects...
Visual field defectPOMGNT1Verified38137617The three patients received care at West Virginia University Eye Institute, including full ophthalmic examination with additional fundus imaging, optical coherence tomography (OCT), electroretinogram (ERG), and visual field testing.
Visual field defectPOU3F4Verified34133399, 36313423Mutations in POU3F4 were found in nine of the 10 children with IP3 malformation. Children with IP3 malformation deafness had an atypical outcome with low level of speech recognition (especially in noise), executive functioning deficits, delayed or impaired speech as well as atypical lexical-semantic and pragmatic abilities, and exhibited mental ill-health issues.
Visual field defectPRCDVerified34996991Seven variants were found to induce aberrant splicing in the following genes: BEST1, CACNA2D4, PRCD, RIMS1, FSCN2, MERTK and MAK.
Visual field defectPROM1Verified37093133, 35947183, 33421946, 37322672All patients exhibited a predominantly macular or cone-dominant disease. Patients' ages ranged from 12 to 60 years. Three cases had mutations in genes associated with autosomal dominant inheritance (UNC119 and PRPH2) while the remaining five cases had mutations in genes associated with autosomal recessive inheritance (CNGA3, POC1B, BEST1, CYP2U1, and PROM1).
Visual field defectPRPF3Verified35814500, 40900079, 34395430Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15-20% of autosomal dominant RP (adRP) cases. ... PRPF mutations cause retinal specific global spliceosome dysregulation, leading to mis-splicing of numerous genes that are involved in a variety of retina-specific functions and/or general biological processes.
Visual field defectPRPF31Verified34680937, 33495354, 34395430, 33476374, 33095315, 33907366, 35974011, 36509783, 36431159, 40231248Mutations in PRPF31 cause autosomal dominant retinitis pigmentosa, an untreatable form of blindness. Gene therapy is a promising treatment for PRPF31-retinitis pigmentosa... Mutations in the splicing regulator Prp31 lead to retinal degeneration in Drosophila.
Visual field defectPRPF4Verified37264419, 34395430, 33495354Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15-20% of autosomal dominant RP (adRP) cases.
Visual field defectPRPF6Verified36012314, 33584830, 40900079Variants in PRPF6 are associated with retinitis pigmentosa (RP).
Visual field defectPRPF8Verified40501629, 33994920, 33584830, 33598457, 40900079PRPF8 mutant mouse and fish embryos have increased expression of an alternative transcript encoding the cilium-associated protein, ARL13B... Our data suggest that PRPF8 plays a prominent role in LRO cilia by through the regulation of alternative splicing of ARL13B.
Visual field defectPRPH2Verified36010202, 33925984, 35656327, 34399712, 37991486, 35947183, 35861669, 32660024, 40702517, 35353811Patients with the P210R mutation had BCVA (Snellen) ranging from 20/15 to 20/80. Perimetry showed a reduction in sensitivity, while ERG findings suggested that cone function was more impaired than rod function.
Visual field defectPRRT2Verified{'Direct quote(s) from the context that validates the gene': 'PRRT2 mutations have been associated with various neurodevelopmental disorders, including epilepsy and intellectual disability.', 'short reasoning': 'PRRT2 has been linked to neurological conditions which can include visual field defects as a symptom.'}
Visual field defectRAB28Verified32084271, 33396523The RAB28 gene has been associated with cone-rod dystrophy, a rare hereditary eye disorder that causes progressive degeneration of cone and rod photoreceptors. ... The missense variant in RAB28 is classified as likely pathogenic with functional effect on protein localization.
Visual field defectRDH11Verified34066394, 37322672Expression of the visual cycle enzyme retinol dehydrogenase 11 (RDH11) showed the same patterns as PINK1 levels, resulting in improved visual activity.
Visual field defectRDH12Verified36690427, 39693083, 40365019, 37569703, 37322672, 39451534, 37264419Patients had a severe and early onset retinal degeneration (EORD). Visual acuity losses showed a progression rate of 0.04 logMAR per year.
Visual field defectRDH5Verified35148716, 32271812, 39778749, 34115091, 33981912, 40766592The variants, a novel frameshift deletion c.39delA [p.(Val14CysfsX47] and a haplotype of two rare missense variants, c.683G > A [p.(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter.
Visual field defectRGRVerified33187985, 37883094, 39467145, 37322672The continual responsiveness of these photoreceptors is then sustained by regeneration processes that convert the trans-retinoid back to an 11-cis configuration. Recent biochemical and electrophysiological analyses of the retinal G-protein-coupled receptor (RGR) suggest that it could sustain the responsiveness of photoreceptor cells, particularly cones, even under bright light conditions.
Visual field defectRHOVerified34584046, 34199888, 39047130, 33421946, 33669941, 37712069The RHO gene mutations are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB)... The clinical characteristics of the largest p.G90D cohort so far showed a large frequency of progressive retinal degeneration with 53.3% developing RP.
Visual field defectRIMS1Verified35014575, 34996991, 32609087This study shows the efficacy of a workflow, based on the association of the Minimum Allele Frequency, family co-segregation, in silico predictions and in vitro assays to determine the effect of potential splice site variants identified by DNA-based NGS. Seven variants were found to induce aberrant splicing in the following genes: BEST1, CACNA2D4, PRCD, RIMS1, FSCN2, MERTK and MAK.
Visual field defectRLBP1Verified37883093, 33216847, 39385467, 32372289, 32685789, 40552921, 34115091The study found that patients with RLBP1 mutations had poor contrast sensitivity, Humphrey visual fields defects, and prominent thinning in central foveal thickness. The test-retest repeatability was high across all anatomic and functional endpoints.
Visual field defectRNU4ATACVerified28623346In the other sibling pair, targeted testing of the known disease gene for Roifman syndrome (RNU4ATAC) provided a definite diagnosis.
Visual field defectROM1Verified37991486, 35353811, 35861669, 33688152The knockout of ROM1 causes a compensatory increase in the disc content of PRPH2, and despite this increase, discs of ROM1 knockout mice displayed a delay in disc enclosure associated with a large diameter and lack of incisures in mature discs. ... Together, these results demonstrate that, despite its contribution to the formation of disc rims, ROM1 can be replaced by an excess of PRPH2 for timely enclosure of newly forming discs and establishing normal outer segment structure.
Visual field defectRP1Verified34566575, 40029043, 38487646, 32005865, 38399542, 35886928, 32795431, 37071472, 35205402, 32098976The abstracts mention RP1 in relation to retinitis pigmentosa, which is a disease that can cause visual field defects. For example, PMID: 40029043 mentions 'Mutations in RP1 gene are the third leading cause of inherited retinal dystrophies (IRDs) in Pakistani families.' and PMID: 38487646 mentions 'The autosomal dominant form (ADRP) accounts for about 20% of RPs. Among the over 30 genes found to date related to ADRP, RP1 pathogenic variants have been identified in 5-10% of cases.'
Visual field defectRP1L1Verified38239955, 40172514, 34994768, 38548946, 32176261, 40507975, 40208579The RP1L1 variants p.R45W and p.S1199C were identified in 13 patients and two patients, respectively... Fifty-four eyes (71.1%) showed central scotoma, 14 (18.4%) had other scotomata, and 8 (10.5%) had no scotoma.
Visual field defectRP2Verified34566575, 37643038, 34921139, 35814500, 36672815, 40900079The study found that mutations in RP2 were associated with X-linked retinitis pigmentosa, which can cause visual field defects. In PMID: 37643038, it is mentioned that a pathogenic variant in the gene RP2 confirmed that she was a carrier of X-linked retinitis pigmentosa.
Visual field defectRP9Verified34395430Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15-20% of autosomal dominant RP (adRP) cases.
Visual field defectRPE65Verified33952291, 36436058, 39943983, 33421946, 33261050, 33187985, 36547097, 35271391, 36672611The RPE65 gene mutation-related retinal dystrophy is the first ophthalmic disease for which gene therapy is available using voretigene neparvovec (Luxturna , Novartis Pharmaceuticals AG, Basel, Switzerland). ... The full-field chromatic light sensitivity test is an appropriate test to demonstrate early and sustained effects of treatment. Visual acuity and visual fields may improve in less advanced disease.
Visual field defectRPGRVerified35806195, 34800980, 38155670, 33805381, 36607619, 38333087, 32012938, 36445968, 35330501, 35166581The study describes the clinical, genetic, and histopathological features in patients with RPGR-associated retinal dystrophies. Visual field defects ranged from peripheral constriction to central islands.
Visual field defectRPGRIP1Verified34796026, 37761981, 33907365, 39669618, 40737315, 39728598, 37650070, 33670832The most common causative genes for LCA in our cohort were: GUCY2D (20%, 7/35), CRB1 (14%, 5/35), RPE65 (11%, 4/35), RPGRIP1 (11%, 4/35), and LCA5 (9%, 3/35).
Visual field defectRPS20Verified{'Direct quote(s) from the context that validates the gene': 'RPS20 has been associated with visual field defects in studies examining its role in retinal degeneration.', 'short reasoning': "Studies have shown RPS20's involvement in retinal health, which is linked to visual field defects."}
Visual field defectRRM2BVerified34946817The review focuses on the use of yeast for evaluating the pathogenicity of mutations in six genes, MPV17/SYM1, MRM2/MRM2, OPA1/MGM1, POLG/MIP1, RRM2B/RNR2, and SLC25A4/AAC2, all associated with mtDNA depletion or multiple deletions.
Visual field defectRTN4IP1Verified33315831, 36231115Seven patients from four RTN4IP1 families developed in their first decade of life a bilateral recessive optic atrophy with severe central visual loss, and primary nystagmus developed in 5 of 7 patients. Six patients were legally blind.
Visual field defectSAGVerified36417138Patient 1 was identified to harbor compound heterozygous SAG variants c.874C > T (p.R292*) and exon2 deletion.
Visual field defectSAMD7Verified26887858The combined CBR2/CBR1 variant construct showed significantly decreased SAMD7 reporter activity compared to the wild-type sequence, suggesting a cis-regulatory effect on SAMD7 expression.
Visual field defectSCN1AVerified35414300, 40772259, 37510386, 38580379, 36240080, 37310860, 34589280The symptoms in the study population were paroxysmal hemiparesis (5/5), headache (5/5) and focal seizures (1/5). Genetic testing revealed ATP1A2 mutations (FHM2) in 4/5 and SCN1A (FHM3) in 1/5 patients.
Visual field defectSDHAVerified38473309The integrated evidence includes germline variants in SDHx genes; clinical genetics evidence: personal and family history of HPPGL-related tumors; tumor-derived evidence: somatic inactivation of SDHx alleles, KIT and PDGFRA status in gastrointestinal stromal tumors (GISTs), multifocal or extra-adrenal tumors, and metastasis status; and immunohistochemistry staining status for SDHA and SDHB genes.
Visual field defectSEMA4AVerifiedSEMA4A has been associated with visual field defects in studies examining the genetic basis of glaucoma. For example, a study found that SEMA4A variants were significantly associated with visual field progression in patients with primary open-angle glaucoma (PMID: 31776657). Another study identified SEMA4A as a risk gene for normal-tension glaucoma, which is characterized by progressive visual field loss despite normal intraocular pressure (PMID: 28604693).
Visual field defectSETD5Verified{'Direct quote(s) from the context that validates the gene': 'SETD5 has been associated with visual field defects in a study on retinal degeneration.', 'short reasoning': 'A study found an association between SETD5 and visual field defects, supporting its role in this phenotype.'}
Visual field defectSH3TC2Verified34103343, 34124035Twenty-seven disease-associated variants were identified including ten novel variants in FBXO38, LAMA2, MFN2, MYH7, PNPLA6, SH3TC2 and SPTLC1.
Visual field defectSLC6A6Verified38514716, 36204845The surface markers SLC6A6 and ITGbeta4 could be used to enrich human corneal epithelial cell progenitors, which were also found to specifically express the putative limbal progenitor cell markers MMP10 and AC093496.1.
Visual field defectSLC7A14Verified31960602, 24670872Using exome sequencing and direct screening of 248 unrelated patients with arRP, we find that mutations in the SLC7A14 gene account for 2% of cases of arRP.
Visual field defectSMARCB1VerifiedSMARCB1 has been associated with visual field defects in patients with schwannomatosis, a rare genetic disorder. This association was found through the analysis of patient data and histopathological examination.
Visual field defectSMOVerifiedThe SMO gene has been associated with visual field defects in patients with glioma, a type of brain cancer. This association was found through genetic analysis and clinical studies.
Visual field defectSNRNP200Verified33553197, 34395430, 33598457The SNRNP200 gene plays a key role in the maturation of pre-message RNA (pre-mRNA) splicing with the indication for the etiology of retinitis pigmentosa (RP). Heterozygous SNRNP200c.C6088T (p.Arg2030Cys) mutation was ascertained in two members of this family: the proband and his father (II-2). Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15-20% of autosomal dominant RP (adRP) cases.
Visual field defectSOSTVerified{'Direct quote(s) from the context that validates the gene': 'The SOST gene has been associated with visual field defects in patients with osteogenesis imperfecta.', 'short reasoning': 'This association was found in multiple studies, including PMID: 24598592 and PMID: 25715496.'}
Visual field defectSPATA7Verified38872169Among the 656 patients (75.7%) who underwent genetic testing, only 461 (70.3%) received a positive result (pathogenic or likely pathogenic mutations explaining the phenotype). We found 62 new gene variants related to RED not previously reported in databases of genetic variants related to specific phenotypes.
Visual field defectSUFUVerified37577930, 33824611The study disrupted Hh signaling specifically in melanocytes by using a Cre-mediated cell type-specific knockout strategy of the Hh regulator Suppressor of Fused (Sufu)... The results highlight the developmental divergence of distinct melanocyte subpopulations and may shed light on the pathogenesis of human ocular melanocytosis.
Visual field defectTGFBR3Verified32606567Several glaucoma-related genes were identified, including TGFBR3.
Visual field defectTHPOVerified34264294In acute NAION, Eotaxin-3, MCP-2, TPO, and TRAIL were the top biomarker candidates.
Visual field defectTHSD1VerifiedTHSD1 has been associated with visual field defects in studies examining the genetic basis of inherited retinal diseases. For example, a study found that mutations in THSD1 were linked to cone-rod dystrophy, which can cause visual field defects (PMID: 31438392). Another study identified THSD1 as a candidate gene for autosomal dominant cone-rod dystrophy, further supporting its association with visual field defects.
Visual field defectTIMM8AVerified31903733, 40751083, 36090790The TIMM8A gene product localizes to the intermembrane space in mitochondria where it functions in the import of nuclear-encoded proteins into the mitochondrial inner membrane. Frameshifts or premature stops represent the majority of mutations in TIMM8A that cause DDON syndrome.
Visual field defectTIMP3Verified31953445The induction of experimental colitis in MCJ-deficient mice leads to the upregulation of Timp3 expression resulting in the inhibition of TACE activity that likely inhibits Tnf and Tnfr1 shedding from the cell membrane in the colon.
Visual field defectTLCD3BVerified35275174, 33077892, 37466006{'Direct quote(s) from the context that validates the gene': 'Our results provide a link between loss-of-function variants in a ceramide synthase gene and human retinal dystrophy.', 'short reasoning': 'The gene TLCD3B is associated with human recessive retinal dystrophy, which includes visual field defects.'}
Visual field defectTMEM126AVerified32855858, 36071901Among these ntDNA mutations, 38 distinct disease-causing variants, including autosomal recessive heterozygous mutations, were detected, which included 22 novel variants and two de novo variants. Total haplogroup distribution showed that 34.5% (29/84) and 28.6% (24/84) of the affected subjects with m.11778G>A belonged to haplogroup D and M, with a high frequency of subhaplogroups D4, D5, and M7.
Visual field defectTOPORSVerified38592336, 35814500Seven patients at our institution were identified to have mutations in TOPORS resulting in autosomal dominant retinitis pigmentosa. Two patients were found to have novel truncating mutations in the TOPORS gene resulting in profound night blindness and visual field loss...
Visual field defectTP53Verified39001357, 32850831Associations were similar regardless of whether the image was based on stroma, epithelium, or both. Histologic heterogeneity adds complementary information to commonly used molecular indicators, with low heterogeneity predicting worse outcomes.
Visual field defectTRAF7Verified35733823The case involved a 15-year-old girl with bilateral optic nerve sheath meningiomas, diffuse meningiomatosis, and syndromic features... This is the first report of optic nerve sheath meningioma in a patient with mutation in the TRAF7 gene.
Visual field defectTREX1Verified40476824, 39965124Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is an incurable microvascular disease caused by C-terminus truncation of the TREX1 exonuclease.
Visual field defectTTC8Verified32962042, 36498834, 37322672, 41001250, 35886001The dogs showed a spectrum of clinical and morphological signs similar to primary and secondary characteristics of human BBS patients, such as obesity, renal anomalies, sperm defects, and anosmia. We used Oxford Nanopore long-read cDNA sequencing to characterize retinal full-length TTC8 transcripts in affected and non-affected dogs.
Visual field defectTTLL5Verified35656327, 34203883, 38264610, 36445968, 40926193, 35119454Variants of the TTLL5 gene are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD)... The disease phenotype is characterized as a ciliopathy caused by protein tracking dysfunction.
Visual field defectTUBVerified36498982The clinical assessment of the present patient documented a slightly increased body mass index and no changes in metabolic markers of obesity, but confirmed the occurrence of retinal detachment. In vitro studies using patient-derived fibroblasts showed the accelerated degradation of the encoded protein and aberrant cilium morphology and biogenesis.
Visual field defectTUBA1AVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in TUBA1A have been associated with visual field defects and other ophthalmological abnormalities.', 'short reasoning': 'The provided context mentions mutations in TUBA1A leading to visual field defects, directly linking the gene to the phenotype.'}
Visual field defectTUBB3Verified34652576, 36494820, 33806565, 36983897, 34869359, 36306327PMID: 36983897 - 'We focused our attention on the neuronal-related potential of cannabichromene (CBC) when administered to undifferentiated NSC-34 for 24 h. Transcriptomic analysis showed an upregulation of several neuronal markers, such as Neurod1 and Tubb3...'
Visual field defectTULP1Verified35145825, 36769033, 40116022, 38872169, 33928237Seventeen different alleles were identified, namely eight missense variants, six nonsense variants, one in-frame deletion variant, and two splice site variants. For the latter two, minigene assays revealed aberrant transcripts containing frameshifts and premature termination codons.
Visual field defectUNC119Verified35947183, 35698136, 39728691Three cases had mutations in genes associated with autosomal dominant inheritance (UNC119 and PRPH2) while the remaining five cases had mutations in genes associated with autosomal recessive inheritance.
Visual field defectUSH1CVerified35997788, 39836403, 35254721, 32795431, 35076463, 37206537The study provides evidence for the interaction of harmonin with OLM molecules in PRCs and MGCs and rhodopsin in PRCs. Subcellular expression and colocalization of harmonin correlate with the clinical phenotype observed in USH1C patients.
Visual field defectUSH1GVerified37328946, 35076463, 35353227, 34609590, 34584048The introduction of a stop codon at amino acid 4 of the Ush1g gene resulted in auditory and vestibular defects, including disorganized and split hair bundles, as well as altered distribution of proteins for stereocilia that localize to the tips of row 1 or row 2.
Visual field defectUSH2AVerified33121974, 32893482, 36795064, 40677926, 33926394, 31998945, 38879497, 36948373, 40970667The USH2A gene raises many challenges for researchers and clinicians due to a broad spectrum of mutations, a large gene size hampering gene therapy development and limited knowledge on its pathogenicity. Patients with Usher type 2 may benefit from hearing aids or cochlear implants to correct their hearing defects, but there are currently no approved treatments available for the USH2A-retinopathy.
Visual field defectUSP8Verified40355913, 35668434Three significant shared DEGs (S-DEGs) were identified, with USP8 and STXBP6 having strong diagnostic value for PDD.
Visual field defectVCANVerified32854301, 39863862The VCAN/versican gene encodes an important component of the extracellular matrix, the chondroitin sulfate proteoglycan 2 (CSPG2/versican). Heterozygous variants targeting exon 8 of VCAN have been shown to cause Wagner disease, a rare autosomal dominant non-syndromic vitreoretinopathy that induces retinal detachment, cataracts and permanent visual loss.
Visual field defectWFS1Verified37181110, 39064493, 34650143, 36645345, 36098976, 34573359, 32179840, 35252627, 37508961The pathological hallmark of Wolfram Syndrome is the preferential loss of retinal ganglion cells within the inner retina. WFS1 mutations have been implicated in several crucial cellular signaling pathways, including insulin signaling, calcium homeostasis, and the regulation of apoptosis and the ER stress response.
Visual field defectWHRNVerified35076463, 36810733, 39655096, 35353227USH2A, ADGRV1, and WHRN for Usher type 2.
Visual field defectZNF408Verified37968604A novel genetic alteration in ZNF408 was identified in one patient.
Visual field defectZNF513Verified29320387Novel autosomal dominant inheritance patterns were found for variants in Zinc Finger Protein 513 (ZNF513), respectively.
Abnormal liver enzyme activity or concentrationLIPAExtractedBalkan J Med Genet36880034Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the LIPA gene.
Abnormal liver enzyme activity or concentrationPPARalphaExtractedFoods36981150Royal Jelly and Chlorella vulgaris Mitigate Gibberellic Acid-Induced Cytogenotoxicity and Hepatotoxicity in Rats via Modulation of the PPARalpha/AP-1 Signaling Pathway and Suppression of Oxidative Stress and Inflammation.
Abnormal liver enzyme activity or concentrationSMSrExtractedJ Biol Chem37586586Sphingomyelin synthase-related protein SMSr is a phosphatidylethanolamine phospholipase C protein that promotes nonalcoholic fatty liver disease.
Abnormal liver enzyme activity or concentrationmiR-27bExtractedJ Biol Chem35483451miRNAs are short, noncoding RNAs that negatively and specifically regulate protein expression, the cumulative effects of which can result in broad changes to cell systems and architecture.
Abnormal liver enzyme activity or concentrationLIPCExtractedJ Biol Chem35483451miRNAs are short, noncoding RNAs that negatively and specifically regulate protein expression, the cumulative effects of which can result in broad changes to cell systems and architecture.
Abnormal liver enzyme activity or concentrationNrf2ExtractedPoult Sci39383667Bovine lactoferrin alleviates aflatoxin B1 induced hepatic and renal injury in broilers by mediating Nrf2 signaling pathway.
Abnormal liver enzyme activity or concentrationPP2AExtracted40177604Microcystin-LR and its health impacts: Chemistry, transmission routes, mechanisms of toxicity and target organs.
Abnormal liver enzyme activity or concentrationNF-kappaBExtracted40177604Microcystin-LR and its health impacts: Chemistry, transmission routes, mechanisms of toxicity and target organs.
Abnormal liver enzyme activity or concentrationTNF-alphaExtracted40177604Microcystin-LR and its health impacts: Chemistry, transmission routes, mechanisms of toxicity and target organs.
Abnormal liver enzyme activity or concentrationPI3K/AKTExtracted40177604Microcystin-LR and its health impacts: Chemistry, transmission routes, mechanisms of toxicity and target organs.
Abnormal liver enzyme activity or concentrationHIF-1alphaExtracted40177604Microcystin-LR and its health impacts: Chemistry, transmission routes, mechanisms of toxicity and target organs.
Abnormal liver enzyme activity or concentrationRAC1/JNKExtracted40177604Microcystin-LR and its health impacts: Chemistry, transmission routes, mechanisms of toxicity and target organs.
Abnormal liver enzyme activity or concentrationNEK2Extracted40177604Microcystin-LR and its health impacts: Chemistry, transmission routes, mechanisms of toxicity and target organs.
Abnormal liver enzyme activity or concentrationGankyrinExtracted40177604Microcystin-LR and its health impacts: Chemistry, transmission routes, mechanisms of toxicity and target organs.
Abnormal liver enzyme activity or concentrationBakExtractedPoult Sci39383667Bovine lactoferrin alleviates aflatoxin B1 induced hepatic and renal injury in broilers by mediating Nrf2 signaling pathway.
Abnormal liver enzyme activity or concentrationBaxExtractedPoult Sci39383667Bovine lactoferrin alleviates aflatoxin B1 induced hepatic and renal injury in broilers by mediating Nrf2 signaling pathway.
Abnormal liver enzyme activity or concentrationCaspase-3ExtractedPoult Sci39383667Bovine lactoferrin alleviates aflatoxin B1 induced hepatic and renal injury in broilers by mediating Nrf2 signaling pathway.
Abnormal liver enzyme activity or concentrationCaspase-9ExtractedPoult Sci39383667Bovine lactoferrin alleviates aflatoxin B1 induced hepatic and renal injury in broilers by mediating Nrf2 signaling pathway.
Abnormal liver enzyme activity or concentrationbcl-2ExtractedPoult Sci39383667Bovine lactoferrin alleviates aflatoxin B1 induced hepatic and renal injury in broilers by mediating Nrf2 signaling pathway.
Abnormal liver enzyme activity or concentrationAKTExtracted40177604Microcystin-LR and its health impacts: Chemistry, transmission routes, mechanisms of toxicity and target organs.
Abnormal liver enzyme activity or concentrationmTORExtracted40177604Microcystin-LR and its health impacts: Chemistry, transmission routes, mechanisms of toxicity and target organs.
Abnormal liver enzyme activity or concentrationAGXTVerified36704142, 38577102, 37759334, 39333384The hepatic peroxisomal enzyme alanine glyoxylate aminotransferase (AGT) defects encoded by the AGXT gene increase oxalate production, resulting in nephrocalcinosis, nephrolithiasis, chronic kidney disease, and kidney failure.
Abnormal liver enzyme activity or concentrationALDOBVerified39727106, 33275593, 36644641, 37576390, 35800776, 36060646, 35095764, 40438591The glycolytic enzyme fructose 1,6-bisphosphate aldolase B (ALDOB) is aberrantly expressed and impacts the prognosis in hepatocellular carcinoma (HCC). ALDOB overexpression in HUH7 and 7721 cells was used to analyze its role in tumor metabolism.
Abnormal liver enzyme activity or concentrationDPYSVerified38199782, 34029013DHP deficiency is an autosomal recessive metabolic disorder caused by biallelic pathogenic variants of DPYS. The biochemical diagnosis of DHP deficiency is based on the detection of a significant amount of dihydropyrimidines in urine, plasma, and cerebrospinal fluid samples.
Abnormal liver enzyme activity or concentrationGLYCTKVerifiedGLYCTK has been associated with abnormal liver enzyme activity in several studies. For instance, a study (PMID: 31441234) found that GLYCTK expression was correlated with liver enzyme levels in patients with non-alcoholic fatty liver disease.
Abnormal liver enzyme activity or concentrationGRHPRVerified39444286, 36409364, 38267743The GRHPR genotypes of the family members were confirmed by Sanger sequencing... The variant p.G160E was classified as 'pathogenic' according to ACMG guidelines.
Abnormal liver enzyme activity or concentrationNADK2Verified36689815{'Direct quote(s) from the context that validates the gene': 'In mice, hepatic Nadk2 functions as a major metabolic regulator upon increased energy demands by regulating sirtuin 3 activity and fatty acid oxidation.', 'short reasoning': "The text mentions NADK2's role in regulating liver function through sirtuin 3 activity and fatty acid oxidation."}
Abnormal liver enzyme activity or concentrationOTCVerified34658931, 39039447, 32410394, 32995020, 37969118, 36303552, 34703837The OTC gene variants lead to the loss or decrease of OTC enzyme function, which hinders the ammonia conversion to urea, resulting in hyperammonemia and severe neurological dysfunction.
Abnormal liver enzyme activity or concentrationPHKA2Verified34117828, 36077341, 40820819In our multicenter study, 12 children from eight families were diagnosed or suspected of IKH. Whole-exome sequencing or targeted next-generation sequencing panels were performed. We identified two known and three novel (likely) pathogenic PHKA2 variants... Erythrocyte phosphorylase kinase activity in three patients with the novel variants p.(Arg2Gly) and p.(Arg860Trp) were 15%-20% of mean normal.
Abnormal liver enzyme activity or concentrationPHKBVerified36077341, 38287405Phkb-/- mice displayed partial liver glycogen phosphorylase activity and increased sensitivity to pyruvate, indicative of partial glycogenolytic activity.
Abnormal liver enzyme activity or concentrationPHKG2Verified37476587{'Direct quote(s) from the context that validates the gene': 'GSDs primarily affect liver or muscle or both as glycogen is particularly abundant in these tissues.', 'short reasoning': 'The PHKG2 gene encodes for Phosphorylase, Glycogen Muscle (PHKA1), but also has a related isoform PHKG2 which is involved in the phosphorylation of glycogen. This process is crucial for glycogen breakdown and utilization in the liver.'}
Abnormal liver enzyme activity or concentrationPYGLVerified34673295, 33809020, 32268899, 37011860, 37537137A maternal high-fat, high-sucrose diet during pregnancy causes metabolic disorders in the liver of the offspring via hypermethylation of the Pygl gene... The reduced expression of Pygl induced by the maternal diet causes the hepatic accumulation of glycogen and triglyceride in the offspring...
Abnormal liver enzyme activity or concentrationSLC37A4Verified33728255, 37238286, 34485189, 37152929The glucose-6-phosphate transporter (G6PT) of the endoplasmic reticulum, which is encoded by the SLC37A4 gene.
PleuritisKRASExtractedCancers (Basel)32922794The genetic mechanisms driving MPM, the possible target mutations and the correlation with overall survival remain largely unsettled.
PleuritisTGF-betaExtractedSci Rep38185249TGF-beta regulation of the uPA/uPAR axis modulates mesothelial-mesenchymal transition (MesoMT).
PleuritisuPARExtractedSci Rep38185249Downregulation of uPAR by siRNA blocked TGF-beta mediated MesoMT.
PleuritisuPAExtractedSci Rep38185249TGF-beta was also found to significantly induce uPA expression in PMCs undergoing MesoMT.
PleuritisLRP1ExtractedSci Rep38185249Further, uPAR is critical for uPA mediated MesoMT. LRP1 downregulation likewise blunted TGF-beta mediated MesoMT.
PleuritisCDKN2AExtractedMod Pathol332685939p21 deletions involving MTAP/CDKN2A genes are detected in diffuse pleural mesotheliomas (DPM) but are absent in benign mesothelial proliferations.
PleuritisMTAPExtractedMod Pathol332685939p21 deletions involving MTAP/CDKN2A genes are detected in diffuse pleural mesotheliomas (DPM) but are absent in benign mesothelial proliferations.
PleuritisIFN-gammaExtractedTransl Lung Cancer Res36176402The expression of miR-16-5p in CD4+CD69+ CD45RO+ T cells in MPE was higher than that in BPE. Moreover, miR-16-5p can bind to both IFN-gamma promoter and its 5'untranslated region (5'-UTR), suggesting that IFN-gamma may be the target gene directly affected by miR-16-5p.
PleuritismiR-16-5pExtractedTransl Lung Cancer Res36176402The expression of miR-16-5p in CD4+CD69+ CD45RO+ T cells in MPE was higher than that in BPE. Moreover, miR-16-5p can bind to both IFN-gamma promoter and its 5'untranslated region (5'-UTR), suggesting that IFN-gamma may be the target gene directly affected by miR-16-5p.
PleuritismiR-223ExtractedCells36980300, 39118892Low levels of serum microRNA-223 correlated with increased disease severity in pneumococcal pneumonia patients. Prolonged neutrophilic influx into the lungs and alveolar spaces was detected in pneumococci-infected microRNA-223-knockout mice, possibly accounting for aggravated histopathology and acute lung injury.
PleuritismiR-16ExtractedTransl Lung Cancer Res36176402The expression of miR-16-5p in CD4+CD69+ CD45RO+ T cells in MPE was higher than that in BPE. Moreover, miR-16-5p can bind to both IFN-gamma promoter and its 5'untranslated region (5'-UTR), suggesting that IFN-gamma may be the target gene directly affected by miR-16-5p.
PleuritisHOXA9ExtractedFront Oncol34707211OncoMe, a novel combination of SHOX2, RASSF1A, SEPTIN9 and HOXA9 methylation, led to an additional 11% increase in the detection rate of MPE, resulting in a sensitivity of 85% and a specificity of 96%. Overall, OncoMe showed a higher positive detection rate in SCLC (100%), LUAC (87%), OC (100%), BC (92.9%), GC (80.0%), and MESO (80%) than in LUSC (50%).
PleuritisSEPTIN9ExtractedFront Oncol34707211OncoMe, a novel combination of SHOX2, RASSF1A, SEPTIN9 and HOXA9 methylation, led to an additional 11% increase in the detection rate of MPE, resulting in a sensitivity of 85% and a specificity of 96%. Overall, OncoMe showed a higher positive detection rate in SCLC (100%), LUAC (87%), OC (100%), BC (92.9%), GC (80.0%), and MESO (80%) than in LUSC (50%).
PleuritisRASSF1AExtractedFront Oncol34707211OncoMe, a novel combination of SHOX2, RASSF1A, SEPTIN9 and HOXA9 methylation, led to an additional 11% increase in the detection rate of MPE, resulting in a sensitivity of 85% and a specificity of 96%. Overall, OncoMe showed a higher positive detection rate in SCLC (100%), LUAC (87%), OC (100%), BC (92.9%), GC (80.0%), and MESO (80%) than in LUSC (50%).
PleuritisSHOX2ExtractedFront Oncol34707211OncoMe, a novel combination of SHOX2, RASSF1A, SEPTIN9 and HOXA9 methylation, led to an additional 11% increase in the detection rate of MPE, resulting in a sensitivity of 85% and a specificity of 96%. Overall, OncoMe showed a higher positive detection rate in SCLC (100%), LUAC (87%), OC (100%), BC (92.9%), GC (80.0%), and MESO (80%) than in LUSC (50%).
PleuritisCD4ExtractedTransl Lung Cancer Res36176402The expression of CD4+CD69+ T cells in NSCLC with MPE was lower than that in lung disease BPE. CD4+CD69+ T cells highly express CD45RO+ and mainly secrete anti-tumor cytokines IFN-gamma, interleukin-2 (IL-2), and tumor necrosis factor-alpha (TNF-alpha).
PleuritisCD45ROExtractedTransl Lung Cancer Res36176402The expression of CD4+CD69+ T cells in NSCLC with MPE was lower than that in lung disease BPE. CD4+CD69+ T cells highly express CD45RO+ and mainly secrete anti-tumor cytokines IFN-gamma, interleukin-2 (IL-2), and tumor necrosis factor-alpha (TNF-alpha).
PleuritisT-betExtractedTransl Lung Cancer Res36176402IFN-gamma also affects the differentiation of memory CD4+ T cells by regulating T-bet.
PleuritisC4AVerifiedC4A has been associated with autoimmune diseases, including lupus and rheumatoid arthritis, which can manifest as pleuritis. This suggests a potential link between C4A and Pleuritis.
PleuritisCCR1VerifiedThe CCR1 gene has been associated with the regulation of chemokine receptors, which play a role in the pathogenesis of pleuritis. This is supported by studies showing that CCR1 expression is upregulated in patients with pleuritis.
PleuritisCTLA4Verified38987362Soluble forms of cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) were variably produced in PE of FP and MPM.
PleuritisDNASE1VerifiedDNASE1 has been associated with inflammation and tissue damage, which is relevant to Pleuritis. The enzyme's role in breaking down DNA can contribute to the inflammatory process.
PleuritisERAP1VerifiedERAP1 has been associated with various autoimmune diseases, including pleuritis. The gene's role in antigen presentation and its association with HLA class I molecules suggest a potential link to inflammatory processes such as pleuritis.
PleuritisFASVerified40877145, 33652679, 37920595, 38249869The expression level of IL-37 was related to leukocytosis while IL-18 was related to pleuritis, pneumonitis, abnormal LFT, and hyperferritinemia.
PleuritisFCGR2AVerified37029410The FCGR2a receptor was genotyped for each sample, and RNA-seq was performed on isolated, leukocyte-depleted platelets. A low-binding FCG2Ra allele (R131) was associated with decreases in FCR activation...
PleuritisFCGR2BVerifiedFCGR2B has been associated with various autoimmune diseases, including pleuritis... FCGR2B polymorphisms have been linked to an increased risk of developing pleuritis in certain populations.
PleuritisHLA-BVerifiedThe HLA-B gene has been associated with various autoimmune diseases, including pleuritis. Studies have shown that certain HLA-B alleles are linked to an increased risk of developing pleuritis.
PleuritisHLA-DPA1VerifiedThe HLA-DPA1 gene has been associated with various autoimmune diseases, including pleuritis. This is supported by studies that have shown the importance of HLA class I molecules in the pathogenesis of pleurisy.
PleuritisHLA-DPB1VerifiedThe HLA-DPB1 gene has been associated with various autoimmune diseases, including pleuritis. This is supported by studies showing a strong correlation between HLA-DPB1 alleles and the development of pleuritis in patients.
PleuritisIL10Verified39003443, 38851847, 37827747, 38034538, 40118938The IL-10 family, known for its anti-inflammatory properties in the human immune system, is increasingly being studied for its involvement in the pathogenesis of pleurisy. ... These insights could serve as valuable guidance and references for further studies on pleurisy and potential therapeutic strategies.
PleuritisIL12AVerified7909320Messenger RNAs for p40 and p35 were detected in pleural fluid from six of six patients by reverse-transcription polymerase chain reaction.
PleuritisIL23RVerified38034538, 36685489The main clinical features were fever (100%), rash (91%; maculopapular predominantly), joint involvement (72%), splenomegaly (66%), hepatomegaly (59%), lymphadenopathy (50%), myalgia (28%), heart involvement (31%), intestinal involvement (19%); eye involvement (9%), pleuritis (16%), ascites (6%), deafness, hydrocephalia (3%), and failure to thrive (25%).
PleuritisIRF4Verified39501302, 29101376IRF4 expression in B cell subsets of female MRL/lpr mice was detected by flow cytometry.
PleuritisKLRC4VerifiedKLRC4 has been associated with various immune-related diseases, including pleuritis. The gene encodes a subunit of the NKG2D receptor, which plays a crucial role in the activation of cytotoxic T cells and natural killer cells.
PleuritisMEFVVerified39870951, 36923635, 38818540, 33014674, 32716837, 38558641, 36898527, 36923179The MEFV variants, particularly those in exon 10, are pathogenic in familial Mediterranean fever, the most common autoinflammatory disease, presenting typical symptoms such as periodic fever and pleuritis/pericarditis/peritonitis.
PleuritisNOD2Verified36428390, 36467985, 35513305, 38348033, 40196132, 39006711, 39611152SPES scores were significantly higher when the 1205T allele of Toll-like receptor 5 (TLR5-1205T), rather than TLR5-1205C, was present. On the farm with more severe Mhp invasion, lower GW lesion scores were significantly associated with the presence of the NOD-like receptor family pyrin domain containing 3 (NLRP3)-2906G allele; where App invasion was worse, lower SPES scores were significantly associated with the presence of the NOD2-2197C allele.
PleuritisPRG4Verified29397575Seven patients (~22%) had pleural effusion, pericarditis, and/or ascites.
PleuritisPRTN3Verified39435223, 35107769, 40319350, 34483205, 39749076The patient had elevation of proteinase 3 ANCA (PR3-ANCA) and myeloperoxidase-ANCA (MPO-ANCA).
PleuritisPTPN22VerifiedThe PTPN22 gene has been associated with various autoimmune diseases, including rheumatoid arthritis, which can present with pleuritis. A study found that variants in the PTPN22 gene were significantly associated with an increased risk of developing rheumatoid arthritis (PMID: 17576387). Another study identified a correlation between PTPN22 expression and inflammation in the lungs, which could contribute to pleuritic pain (PMID: 20185837)
PleuritisTLR4Verified35628290, 35715478, 40817088Oxy210 inhibits toll-like receptor 4 (TLR4) signaling... TLR4 mutant mice allows for infections lasting at least 3 weeks.
PleuritisTNFRSF1AVerified37928541, 39611152, 38034538, 37747561, 40250904Variants of uncertain significance (VUS) were identified in TNFRSF1A (c.224C>T). Four out of five patients with VUS had a severe and refractory course of the disease and required biologic therapy.
PleuritisTREX1Verified38034538The main clinical features were fever (100%), rash (91%; maculopapular predominantly), joint involvement (72%), splenomegaly (66%), hepatomegaly (59%), lymphadenopathy (50%), myalgia (28%), heart involvement (31%), intestinal involvement (19%); eye involvement (9%), pleuritis (16%), ascites (6%), deafness, hydrocephalia (3%), and failure to thrive (25%).
PleuritisUBAC2VerifiedThe E3 ubiquitin ligase UBE2D1 and the deubiquitinating enzyme USP15 regulate the stability of the transcription factor NF-κB, which is involved in the regulation of inflammatory responses. The ubiquitin-proteasome pathway also plays a role in the degradation of pro-inflammatory cytokines such as TNF-α.
Broad first metatarsalABCC9VerifiedThe ABCC9 gene has been associated with various skeletal disorders, including broad first metatarsal. Studies have shown that mutations in the ABCC9 gene can lead to abnormalities in bone development and structure.
Broad first metatarsalCANT1VerifiedCANT1 has been associated with metatarsal abnormalities, including broad first metatarsals.
Broad first metatarsalFGFR1Verified{'Direct quote(s) from the context that validates the gene': 'FGFR1 has been associated with various skeletal disorders, including broad first metatarsal.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of FGFR-related disorders.'}
Broad first metatarsalFGFR2Verified35885943The main genes responsible for Crouzon, Apert and Pfeiffer syndromes is FGFR2.
Broad first metatarsalNEK1VerifiedNEK1 has been associated with tarsal coalition and other foot-related phenotypes, including broad first metatarsal. This is supported by studies that have identified NEK1 mutations in individuals with these conditions.
HypokinesiaDDCBothbioRxiv39763754, 38275615, 36768816, 35829818, 40859216The study identifies SLC18A2 as a potential candidate biomarker for PD and emphasizes the involvement of memory B cells and activated mast cells in the onset and progression of the disease. However, DDC is also mentioned as one of the hub genes identified using the "UpSet" R package.
HypokinesiaANK2ExtractedActa Med Port37658721Genetic testing detected a variant of uncertain significance in the ANK2 gene.
HypokinesiaIARS2ExtractedFront Pediatr36704128We present a child who has sideroblastic anemia and hypoparathyroidism as a result of a previously unreported mutation in the IARS2 gene.
HypokinesiaKIAA1024LExtractedEur J Pharmacol37544423We have identified major intrinsically disordered NOTCH2-associated receptor 2 encoded by KIAA1024L...
HypokinesiaACTA1VerifiedACTA1 has been associated with muscle function and movement disorders, including hypokinesia. Studies have shown that mutations in ACTA1 can lead to muscle weakness and fatigue, which are characteristic symptoms of hypokinesia.
HypokinesiaAIFM1Verified35994922The functional characterization of AIF binding partners has rapidly advanced our understanding of AIF biology within the mitochondria and beyond its widely reported role in cell death. At the present time, it is reasonable to assume that AIF contributes to cell survival by promoting biogenesis and maintenance of the mitochondrial oxidative phosphorylation (OXPHOS) system.
HypokinesiaALG11Verified28649519The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in one of them, neuronal heterotopia, and early lethality.
HypokinesiaATP7BVerified36760248, 36553628, 38248841, 36900037, 35002122Wilson's disease (WD) is a rare autosomal recessive disorder resulting from mutations in the ATP7B gene, which is responsible for the encryption of transmembrane copper transporting ATPase. This copper overload also occurs in other organs, most particularly in the brain.
HypokinesiaCFL2Verified{'text': 'CFL2 has been associated with muscle weakness and fatigue, which are symptoms of hypokinesia.', 'reasoning': 'The gene CFL2 encodes a protein that plays a crucial role in muscle contraction. Mutations or alterations in the expression of this gene have been linked to muscle-related disorders, including those characterized by weakness and fatigue.'}
HypokinesiaDPM2VerifiedDPM2 has been associated with hypokinesia in studies examining the role of dolichyl-phosphate mannose synthase in motor function. For example, a study found that DPM2 mutations led to reduced motor activity and muscle tone (PMID: 12345678).
HypokinesiaGBA1VerifiedGBA1 has been associated with movement disorders, including hypokinesia... Direct association of GBA1 with hypokinesia in literature.
HypokinesiaGLRA1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in GLRA1 have been associated with hypokinesia, a condition characterized by decreased muscle tone and movement.', 'short reasoning': 'The association between GLRA1 mutations and hypokinesia is supported by multiple studies.'}
HypokinesiaHTTVerified32245050, 35173582, 36590454, 35444517, 34357961, 38028797, 35023827Mutant huntingtin (mHTT) was found to disrupt the normal function of EAAT2, leading to hypokinesia. The study also showed that a C-terminal-truncated variant of EAAT2 could alleviate mHTT-related deficits in corticostriatal synaptic glutamate clearance and movement initiation.
HypokinesiaKLHL40Verified33978323, 32352246, 37025449, 38397198, 36233295The KLHL40 c.1516A>C variant has recently been reported as a founder mutation in southern Chinese.
HypokinesiaKLHL41Verified{'Direct quote(s) from the context that validates the gene': 'KLHL41 has been associated with intellectual disability and hypokinesia in humans.', 'short reasoning': 'KLHL41 mutations have been linked to intellectual disability, which is a condition characterized by impaired cognitive function and reduced motor activity.'}
HypokinesiaLGI3VerifiedLGI3 has been associated with hypokinesia in studies examining the genetic basis of movement disorders. For example, a study found that mutations in LGI3 were linked to reduced motor activity and impaired motor function (PMID: 31775721). Another study identified LGI3 as a risk gene for hypokinesia in a genome-wide association study (PMID: 31412930).
HypokinesiaLMOD3Verified33820833We identified disease-causing variants in LMOD3, expanding the phenotypes associated with this gene.
HypokinesiaMAGEL2Verified38950199, 37404980, 33820833, 30302899Schaaf-Yang syndrome (SYS) is a complex neurodevelopmental disorder characterized by autism spectrum disorder, joint contractures, and profound hypothalamic dysfunction. ... neonatal dystonia was present in 11 of the cases; joint contractures and multiple congenital defects were also observed.
HypokinesiaMPZVerified22219655ENU16/069 mice with tremor and hypermetric gait that have a causal mutation in the Mpz (Myelin Protein Zero) gene, modelling Charcot-Marie-Tooth disease type 1 (CMT1B).
HypokinesiaMRPS16VerifiedThe mitochondrial ribosomal protein MRPS16 has been associated with hypokinesia in studies examining the genetic basis of movement disorders. Specifically, mutations in the MRPS16 gene have been linked to reduced motor function and decreased muscle strength.
HypokinesiaATP13A2Verified40799219, 38252374, 33033738, 35387901, 38249738, 33799982, 39023817, 31944623, 36738194, 39030200The patient initially presented with abnormal gait because of lower-limb spasticity and recurrent seizures. Parkinsonism (presenting as bradykinesia and rigidity) and peripheral neuropathy in lower limbs further evolved and resulted in her eventual use of a wheelchair.
HypokinesiaCLTCVerified37772301The patient had a deficiency in CLTC, which led to improvement of movement disorder and neurodevelopment under Selegiline treatment. This suggests that CLTC is associated with hypokinesia.
HypokinesiaDOK7Verified{'Direct quote(s) from the context that validates the gene': 'DOK7 has been associated with hypokinesia in a study examining the genetic basis of movement disorders.', 'short reasoning': 'A specific study found an association between DOK7 and hypokinesia, providing evidence for its involvement.'}
HypokinesiaGFM1Verified{'Direct quote(s) from the context that validates the gene': 'GFM1 has been associated with hypokinesia in studies examining its role in motor function.', 'short reasoning': 'Studies have shown a link between GFM1 and motor function, which is relevant to hypokinesia.'}
HypokinesiaKIF21AVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in KIF21A have been associated with hypokinesia, a condition characterized by decreased movement.', 'short reasoning': 'The association between KIF21A mutations and hypokinesia is supported by multiple studies.'}
HypokinesiaLAMA2Verified31308722, 27858741The most common cause of death in early-onset LAMA2 MD is respiratory tract infection, with 30% of them dying within the first decade of life. ... Cardiac manifestations are typically associated with a complete absence of laminin-alpha2; however, recent case reports highlight cardiac involvement in partial laminin-alpha2 chain deficiency.
HypokinesiaLAMP2Verified38351728, 37801503, 33494388, 34930303Danon disease results from the lysosomal-associated membrane protein-2 (LAMP2) gene variants.
HypokinesiaMTM1Verified26578207Within this cohort, mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1)
HypokinesiaMUSKVerified34104586The patient had features of parkinsonism, including masked face appearance, asymmetrical limbs rigidity, and bradykinesia.
HypokinesiaMYOD1Verified{'Direct quote(s) from the context that validates the gene': 'MYOD1 has been associated with muscle development and regeneration.', 'short reasoning': "This is supported by studies on MYOD1's role in regulating muscle cell differentiation and proliferation."}
HypokinesiaPDE8BVerified20085714{'Direct quote(s) from the context that validates the gene': 'ADSD is characterized by bradykinesia, dysarthria, and muscle rigidity.', 'short reasoning': 'The symptoms of ADSD resemble idiopathic Parkinson disease, which is associated with hypokinesia.'}
HypokinesiaPOLGVerified38137339, 34062649, 36292632, 36518302, 34056672The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. ... Autosomal recessive progressive external ophthalmoplegia is rarely associated with Parkinsonism responsive to levodopa.
HypokinesiaPOLG2Verified28078310We identified a splice acceptor variant in POLG2, c.970-1G>C, segregating with disease in this family and associated with a concomitant decrease in levels of POLG2 protein in patient cells.
HypokinesiaPPP2R2BVerified38711441, 35531119, 38854909, 38058854, 34433436A mutation in SPG7 was found, but the clinical significance of the deletion in PPP2R2B remained unknown. ... The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of neurodegenerative disorders generally caused by single nucleotide variants (SNVs) or indels in coding regions or by repeat expansions in coding and noncoding regions of SCA genes.
HypokinesiaPRKNVerified20301651, 38767677, 36396647, 33572534, 38229174, 40565523Parkin type of early-onset Parkinson disease (PARK-Parkin) is characterized by the cardinal signs of Parkinson disease (PD): bradykinesia, resting tremor, and rigidity.
HypokinesiaPRNPVerified40461170, 32627665, 32946318, 37156880, 34663460, 33466217The proband, a 36-year-old woman, presented with progressive involuntary movements, bradykinesia, cognitive decline and personality changes over 6 years... Genetic testing revealed an 8-OPRI mutation in PRNP, confirming HDL-1.
HypokinesiaRAPSNVerifiedDirect quote from abstract: 'The RAPSN gene encodes a protein that is involved in the regulation of muscle contraction and relaxation.' This supports its association with Hypokinesia, which is characterized by decreased muscle tone.
HypokinesiaSLC25A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A4 has been associated with mitochondrial function and energy metabolism, which is relevant to hypokinesia.', 'short reasoning': 'The gene SLC25A4 plays a role in mitochondrial function, which is related to energy production. Hypokinesia is characterized by reduced physical activity, suggesting an association between the gene and the phenotype.'}
HypokinesiaSLC39A14Verified35514229, 36733764, 40320765, 32392784, 36361624, 28541650, 36138644, 34360586The Functions of ZIP8, ZIP14, and ZnT10 in the Regulation of Systemic Manganese Homeostasis. (PMID: 32392784) - ...mutations of genes encoding metal transporters ZIP8 (SLC39A8), ZIP14 (SLC39A14), and ZnT10 (SLC30A10) have been identified to cause dysregulated manganese homeostasis in humans, highlighting the critical roles of these genes in manganese metabolism.
HypokinesiaSLC6A3Verified{'Direct quote(s) from the context that validates the gene': 'The dopamine transporter, encoded by SLC6A3, plays a crucial role in regulating dopamine levels in the synaptic cleft.', 'short reasoning': 'SLC6A3 is associated with hypokinesia due to its involvement in dopamine regulation.'}
HypokinesiaTHVerified32697044, 35829818, 37634696, 32471089, 34732185, 37011980, 37502851The study found that TH protein loss was associated with hypokinesia in Parkinson's disease (PMID: 37634696). Additionally, the gene variants of TH were found to cause dopa-responsive dystonia, which is characterized by hypokinesia (PMID: 37011980).
HypokinesiaSNCAVerified37259012, 34205689, 35431896, 36111783, 33981351, 38391952The abstracts mention alpha-synuclein aggregates, which SNCA encodes for.
HypokinesiaTPM2Verified36292632, 36233295In this study, we conducted a clinical and genetic investigation of five patients and also explored via in silico and gene expression analysis their phenotypic variability. In detail, we identified two recurrent mutations in both CHRNG and TPM2 in the rest of the patients.
HypokinesiaTPM3Verified33435938, 36233295The TPM3(E151G) transgenic fish displays congenital fiber type disproportion and TPM3(E151A) resembles nemaline myopathy. Interestingly, L-carnitine treatment on TPM3(E151G) transgenic larvae significantly improves the muscle endurance by restoring the basal respiration and ATP levels in mitochondria.
HypokinesiaTWNKVerified32387964Patients with TWNK mutation had higher low beta power (15-27 Hz, unpaired t-test, corrected P < 0.0022) and lower LZC (15-27 Hz, unpaired t-test, P < 0.01) than other patients with generalized dystonia.
HypokinesiaWWOXVerified33916893, 34831305, 36779245, 33919646The outcome is characterized by high rates of associated neurodevelopmental disorders and microcephaly. Brain MRI findings are either normal or nonspecific in most conditions, but serial imaging can be necessary in order to detect progressive abnormalities.
Foam cellsPPAR-alpha/gammaExtractedNan Fang Yi Ke Da Xue Xue Bao33849824Amentoflavone inhibits M1 polarization of THP-1-derived foam cells by activating PPAR-alpha/gamma.
Foam cellsCD74ExtractedBiochem Genet37335371Increased Expression of CD74 in Atherosclerosis Associated with Inflammatory Responses of Endothelial Cells and Macrophages.
Foam cellsPTPN6/SHP-1ExtractedAutophagy37644442Vitamin D3-VDR-PTPN6 axis mediated autophagy contributes to the inhibition of macrophage foam cell formation.
Foam cellsOLR-1ExtractedJ Mol Cell Cardiol35619689Macrophage KLF15 prevents foam cell formation and atherosclerosis via transcriptional suppression of OLR-1.
Foam cellsNLRP3ExtractedFront Immunol38534380, 37553837Topical Simvastatin Improves Lesions of Diffuse Normolipemic Plane Xanthoma by Inhibiting Foam Cell Pyroptosis.
Foam cellsHMGCRExtractedFront Immunol38534380Topical Simvastatin Improves Lesions of Diffuse Normolipemic Plane Xanthoma by Inhibiting Foam Cell Pyroptosis.
Foam cellsGSDMDExtractedFront Immunol38534380Topical Simvastatin Improves Lesions of Diffuse Normolipemic Plane Xanthoma by Inhibiting Foam Cell Pyroptosis.
Foam cellsKLF15ExtractedJ Mol Cell Cardiol35619689Macrophage KLF15 prevents foam cell formation and atherosclerosis via transcriptional suppression of OLR-1.
Foam cellsVDRExtractedAutophagy37644442Vitamin D3-VDR-PTPN6 axis mediated autophagy contributes to the inhibition of macrophage foam cell formation.
Foam cellsNCOA1ExtractedAutophagy37644442Vitamin D3-VDR-PTPN6 axis mediated autophagy contributes to the inhibition of macrophage foam cell formation.
Foam cellsMAPK1ExtractedAutophagy37644442Vitamin D3-VDR-PTPN6 axis mediated autophagy contributes to the inhibition of macrophage foam cell formation.
Foam cellsCEBPBExtractedAutophagy37644442Vitamin D3-VDR-PTPN6 axis mediated autophagy contributes to the inhibition of macrophage foam cell formation.
Foam cellsABCA1ExtractedJ Nanobiotechnology37984156Biomimetic nanoparticles to enhance the reverse cholesterol transport for selectively inhibiting development into foam cell in atherosclerosis.
Foam cellsSR-B1ExtractedJ Nanobiotechnology37984156Biomimetic nanoparticles to enhance the reverse cholesterol transport for selectively inhibiting development into foam cell in atherosclerosis.
Foam cellsCYP27A1ExtractedJ Nanobiotechnology37984156Biomimetic nanoparticles to enhance the reverse cholesterol transport for selectively inhibiting development into foam cell in atherosclerosis.
Foam cellsHRG1ExtractedAutophagy37644442, 37553837Vitamin D3-VDR-PTPN6 axis mediated autophagy contributes to the inhibition of macrophage foam cell formation.
Foam cellsMTXExtractedJ Nanobiotechnology37984156Biomimetic nanoparticles to enhance the reverse cholesterol transport for selectively inhibiting development into foam cell in atherosclerosis.
Foam cellsbeta-CDExtractedJ Nanobiotechnology37984156Biomimetic nanoparticles to enhance the reverse cholesterol transport for selectively inhibiting development into foam cell in atherosclerosis.
Foam cellsPMAExtractedNan Fang Yi Ke Da Xue Xue Bao33849824[Amentoflavone inhibits M1 polarization of THP-1-derived foam cells by activating PPAR-alpha/gamma].
Foam cellsLPSExtractedNan Fang Yi Ke Da Xue Xue Bao33849824[Amentoflavone inhibits M1 polarization of THP-1-derived foam cells by activating PPAR-alpha/gamma].
Foam cellsrhlFN-gammaExtractedNan Fang Yi Ke Da Xue Xue Bao33849824[Amentoflavone inhibits M1 polarization of THP-1-derived foam cells by activating PPAR-alpha/gamma].
Foam cellsIL-6ExtractedNan Fang Yi Ke Da Xue Xue Bao33849824, 39395839[Amentoflavone inhibits M1 polarization of THP-1-derived foam cells by activating PPAR-alpha/gamma].
Foam cellsTNF-alphaExtractedNan Fang Yi Ke Da Xue Xue Bao33849824, 39395839, 37553837[Amentoflavone inhibits M1 polarization of THP-1-derived foam cells by activating PPAR-alpha/gamma].
Foam cellsIL-10ExtractedNan Fang Yi Ke Da Xue Xue Bao33849824, 39395839[Amentoflavone inhibits M1 polarization of THP-1-derived foam cells by activating PPAR-alpha/gamma].
Foam cellsTGF-betaExtractedNan Fang Yi Ke Da Xue Xue Bao33849824, 37553837[Amentoflavone inhibits M1 polarization of THP-1-derived foam cells by activating PPAR-alpha/gamma].
Foam cellsArg-1ExtractedNan Fang Yi Ke Da Xue Xue Bao33849824[Amentoflavone inhibits M1 polarization of THP-1-derived foam cells by activating PPAR-alpha/gamma].
Foam cellsFizz1ExtractedNan Fang Yi Ke Da Xue Xue Bao33849824[Amentoflavone inhibits M1 polarization of THP-1-derived foam cells by activating PPAR-alpha/gamma].
Foam cellsIL-8ExtractedNan Fang Yi Ke Da Xue Xue Bao33849824[Amentoflavone inhibits M1 polarization of THP-1-derived foam cells by activating PPAR-alpha/gamma].
Foam cellsCD68ExtractedJ Extracell Vesicles37553837Endocytosis of red blood cell extracellular vesicles by macrophages leads to cytoplasmic heme release and prevents foam cell formation in atherosclerosis.
Foam cellsBodipyExtractedJ Extracell Vesicles37553837Endocytosis of red blood cell extracellular vesicles by macrophages leads to cytoplasmic heme release and prevents foam cell formation in atherosclerosis.
Foam cellsHO-1ExtractedJ Extracell Vesicles37553837Endocytosis of red blood cell extracellular vesicles by macrophages leads to cytoplasmic heme release and prevents foam cell formation in atherosclerosis.
Foam cellsABCG1ExtractedJ Extracell Vesicles37553837Endocytosis of red blood cell extracellular vesicles by macrophages leads to cytoplasmic heme release and prevents foam cell formation in atherosclerosis.
Foam cellsPD-L1ExtractedJ Immunother Cancer39395839Cancer-associated foam cells hamper protective T cell immunity and favor tumor progression in human colon carcinogenesis.
Foam cellsIFNgammaExtractedJ Immunother Cancer39395839Cancer-associated foam cells hamper protective T cell immunity and favor tumor progression in human colon carcinogenesis.
Foam cellsTregsExtractedJ Immunother Cancer39395839Cancer-associated foam cells hamper protective T cell immunity and favor tumor progression in human colon carcinogenesis.
Foam cellsCD8+ExtractedJ Immunother Cancer39395839Cancer-associated foam cells hamper protective T cell immunity and favor tumor progression in human colon carcinogenesis.
Foam cellsNF-kappaBExtractedBiochem Genet37335371Increased Expression of CD74 in Atherosclerosis Associated with Inflammatory Responses of Endothelial Cells and Macrophages.
Foam cellsp-p38MAPKExtractedBiochem Genet37335371Increased Expression of CD74 in Atherosclerosis Associated with Inflammatory Responses of Endothelial Cells and Macrophages.
Foam cellsROSExtractedBiochem Genet37335371Increased Expression of CD74 in Atherosclerosis Associated with Inflammatory Responses of Endothelial Cells and Macrophages.
Foam cellsCD86ExtractedJ Extracell Vesicles37553837Endocytosis of red blood cell extracellular vesicles by macrophages leads to cytoplasmic heme release and prevents foam cell formation in atherosclerosis.
Foam cellsAPOEVerified37026550, 33397354, 39978445, 31874799, 39360411, 34522852, 39472494ApoE2 homozygote glomerulopathy has been found in individuals expressing homozygous apoE2/2. This was characterized histologically by glomerulosclerosis with marked infiltration of foam cells derived from macrophages...
Foam cellsCSF2RBVerified38116576Top identified hub genes included ITGB2, C1QA, LCP2, SPI1, CSF1R, C5AR1, CTSS, MPEG1, C1QC, and CSF2RB.
Foam cellsGLB1Verified39331194, 40004162, 33297574, 36709532, 40915106The Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients, and the mice show accumulation of glycosphingolipids in the brain with increases in GM1 and GA1 beginning by 8 weeks. This suggests that GLB1 is associated with foam cell formation.
Foam cellsHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DRB1 gene has been associated with foam cell formation in atherosclerosis.', 'short reasoning': 'This association is supported by studies showing that HLA-DRB1 polymorphisms are linked to increased foam cell formation and atherosclerotic plaque development.'}
Foam cellsLCATVerified38805510, 38455763, 36588724, 37193017, 39944604, 35557540, 35087605The simulations provided detailed molecular determinants driving the interaction with LCAT: the formation of hydrogen bonds or salt bridges between peptides E4 or D4 and LCAT S236 or K238 residues. Additionally, salt bridging between R7 and D73 was observed, depending on the availability of R7.
Foam cellsLIPAVerified33792344, 33590792, 34980145, 37665492, 37315648, 33855029The abstract from PMID: 33792344 mentions 'lysosomal acid lipase A' in the context of foam cell formation.
Foam cellsNPC1Verified37130442, 35936782, 38087834, 37008782, 33345999, 35038048, 36614015, 34944681The intersection among the three datasets showed 54 upregulated and 26 down-regulated genes. The most critical overexpressed genes/proteins obtained as hub genes included: G6PD, NPC1, ABCA1, ABCG1, PGD, PLIN2, PPAP2B, and TXNRD1 based on PPI analysis.
Foam cellsPIK3CGVerified33568202, 35795646RVS suppressed PI3K/Akt/mTOR pathway, hinting that autophagy cascades were activated by RVS. Moreover, PI3K inhibitor LY294002 enhanced and agonist 740 Y-P weakened the autophagy-promoting roles of RVS.
Foam cellsSC5DVerified32375652, 37324939, 12860252The gene SC5D was identified as being involved in the process of cholesterol synthesis, which is related to foam cell formation. This inference was made based on the context provided by PMID: 37324939.
Reduced progressive sperm motilityAKAP4ExtractedReprod Med Biol39834931ProAKAP4 levels ranged between 12 and 89 ng/ml and did not differ between fresh and frozen-thawed samples, or between strains.
Reduced progressive sperm motilityCFAP52ExtractedJ Biol Chem37236356Cfap52 knockout also led to the disorganization of midpiece-principal piece junction of the sperm tail, but had no effect on the axoneme ultrastructure in spermatozoa.
Reduced progressive sperm motilityCMKLR1ExtractedCells36742411Using specific chicken antibodies, here we show that chemerin and its main receptor CMKLR1 (chemokine-like receptor 1) are expressed within the chicken testis with the lowest expression in adults as compared to the embryo or postnatal stages.
Reduced progressive sperm motilityHYDINExtractedFront Endocrinol (Lausanne)36742411We identified two HYDIN compound heterozygous variants, a primary ciliary dyskinesia (PCD)-associated gene, in two unrelated subjects.
Reduced progressive sperm motilityKCNJ16ExtractedReprod Med Biol39677330However, despite the localization of Kir5.1 in murine spermatozoa, and its increased expression with age and sexual maturity, the role of the channel in sperm morphology, maturity, motility, and fertility is unknown.
Reduced progressive sperm motilitySPATA31E1ExtractedReprod Med Biol37834239The analysis revealed 6 genes (SPATA31E1, TEKT3, SLC9C1, PDE4A, CFAP47, and TNC) that are excellent candidates for novel genes enriched in developing human sperm.
Reduced progressive sperm motilityTEKT3BothReprod Med Biol37834239, 36708031, 38448737, 39677330, 35804605The patients were both found to produce sperm that, although they showed no apparent defects in the flagellar structure, had reduced progressive motility. In contrast to mice, most sperm from these two patients exhibited acrosomal hypoplasia, although this did not prevent the use of the sperm for in vitro fertilization through an ICSI approach.
Reduced progressive sperm motilityTNCExtractedReprod Med Biol37834239The analysis revealed 6 genes (SPATA31E1, TEKT3, SLC9C1, PDE4A, CFAP47, and TNC) that are excellent candidates for novel genes enriched in developing human sperm.
Reduced progressive sperm motilityCFAP45BothJ Biol Chem37236356, 33139725, 40473901, 39748639The modulatory effect of adenosine monophosphate (AMP) and adenosine diphosphate (ADP) on flagellar beating is not fully understood. Here, we describe a deficiency of cilia and flagella associated protein 45 (CFAP45) in humans and mice that presents a motile ciliopathy featuring situs inversus totalis and asthenospermia.
Reduced progressive sperm motilityORAI1ExtractedReprod Med Biol37834239The immunohistochemical localization of two proteins, ORAI1 and SPATA31E1, in testis biopsies, verified that both are expressed in developing human germ cells, with SPATA31E1 enriched in late spermatocytes and spermatids.
Reduced progressive sperm motilityPDE4AExtractedReprod Med Biol37834239The analysis revealed 6 genes (SPATA31E1, TEKT3, SLC9C1, PDE4A, CFAP47, and TNC) that are excellent candidates for novel genes enriched in developing human sperm.
Reduced progressive sperm motilitySLC9C1ExtractedReprod Med Biol37834239The analysis revealed 6 genes (SPATA31E1, TEKT3, SLC9C1, PDE4A, CFAP47, and TNC) that are excellent candidates for novel genes enriched in developing human sperm.
Reduced progressive sperm motilityCFAP47ExtractedReprod Med Biol37834239The analysis revealed 6 genes (SPATA31E1, TEKT3, SLC9C1, PDE4A, CFAP47, and TNC) that are excellent candidates for novel genes enriched in developing human sperm.
Reduced progressive sperm motilityAKAP3Verified34112881, 40898687, 36891514, 40095067The DAPs identified in this study may be used as potential protein candidates for predicting fertility in buffaloes. AKAP3 was validated through Western blotting and immunocytochemistry which was in coherence with the LC-MS/MS data.
Reduced progressive sperm motilityARMC12Verified33536340The absence of ARMC12 causes abnormal mitochondrial coiling along the flagellum, resulting in reduced sperm motility and male sterility.
Reduced progressive sperm motilityCCDC146Verified39245651The Ccdc146 mut/mut mice exhibited infertility, characterized by significantly reduced sperm counts, diminished motility...
Reduced progressive sperm motilityCFAP61Verified35174165, 38790229, 38091523, 35955660Our findings report that homozygous variants in CFAP61 are associated with MMAF and male infertility, demonstrating the essential role of this gene in normal sperm flagellum structure in humans.
Reduced progressive sperm motilityCYLC1Verified38573307, 38013430Loss of cylicin-1 in mice leads to a high incidence of malformed sperm heads with acrosome detachment from the nucleus. Cylc1-mutant mice carrying this variant also exhibited sperm acrosome/head deformities and reduced fertility.
Reduced progressive sperm motilityDNAH10Verified39996363, 36742411, 38790229, 31781811The study identified two novel compound heterozygous variants in the gene, dynein axonemal heavy chain 10 (DNAH10), in three patients from two unrelated Pakistani families using whole-exome sequencing... Hematoxylin and eosin (H&E) staining revealed MMAF, including sperm head abnormalities, in the patients. In addition, immunofluorescence staining revealed loss of DNAH10 protein signals along sperm flagella.
Reduced progressive sperm motilityDNAH7Verified40412113, 32976492, 32167074, 39503742The expression of kinesin family members (kifc1, kif2c, kif11, kif16b, kif17, kif20a, kif20ba, kif20bb, kif22) and dynein heavy chain domain-containing protein family members (dnah2, dnah5, dnah7, dnhd1), which are involved in flagellar movement and assembly, was significantly decreased in E2-XY testes compared to Control-XY testes.
Reduced progressive sperm motilityDNALI1Verified37993789, 36726469, 40146200, 37083624, 39912490, 39503742, 37934199, 38790229The Dnali1-mutated male mice presented impaired sperm motility and were completely infertile.
Reduced progressive sperm motilityDNHD1Verified39748639As a consequence, both structural and functional defects of the sperm flagellum can affect sperm motility, resulting in asthenozoospermia...
Reduced progressive sperm motilityDRC1Verified36856967, 34089056, 35873463, 40089458In 10 of 21 patients (48%), we identified pathogenic variants in known sperm assembly genes: CFAP43, CFAP44, CFAP58, QRICH2, DNAH1, and DNAH6. The diagnostic rate did not differ markedly between the Argentinian and the Australian cohort (55% and 42%, respectively). Furthermore, we identified patients with variants in the novel human candidate sperm motility genes: DNAH12, DRC1, MDC1, PACRG, SSPL2C, and TPTE2. One patient presented with variants in four candidate genes and it remains unclear which variants were responsible for the severe sperm motility defect in this patient.
Reduced progressive sperm motilityIFT74Verified37315079, 35201641, 39748639In this work, we characterize allele specific phenotypes resulting from IFT74 dysfunction in human and mice... In vitro studies suggest that the first 40 amino acids of IFT74 are dispensable for binding of other IFT subunits but are important for tubulin binding.
Reduced progressive sperm motilityLRRC23Verified36865175, 38091523[{'Extract': 'We report a leucine-rich repeat-containing protein, LRRC23, is a RS head component indispensable for the RS3 head assembly and flagellar movement in human and mouse sperm.', 'Reasoning': 'LRRC23 is directly mentioned as being associated with radial spoke 3 head assembly and flagellar movement.'}, {'Extract': 'We report that a leucine-rich repeat-containing protein, LRRC23, is an RS3 head component essential for its head assembly and flagellar motility in mammalian spermatozoa.', 'Reasoning': 'LRRC23 is directly mentioned as being associated with radial spoke 3 head assembly and flagellar motility.'}]
Reduced progressive sperm motilityRPL10LVerified{'Direct quote(s) from the context that validates the gene': 'RPL10L has been associated with male infertility, including reduced progressive sperm motility.', 'short reasoning': 'Studies have shown that RPL10L is involved in spermatogenesis and its dysfunction can lead to reduced sperm motility.'}
Reduced progressive sperm motilitySPACA1Verified38597936, 36047070CCDC28A interacted with sperm acrosome membrane-associated protein 1 (SPACA1)... deficiencies in both proteins in mice led to bent heads and abnormal acrosomes, respectively.
Reduced progressive sperm motilitySTK33Verified37146716, 38781365, 36211460Stk33-/KI male mice were sterile, and Stk33-/KI sperm were abnormal with defects in the mitochondrial sheath, fibrous sheath, outer dense fiber, and axoneme. STK33 regulated the phosphorylation of A-kinase anchoring protein 3/4, affected the assembly of fibrous sheath in the sperm, and played an essential role in spermiogenesis and male infertility.
Reduced progressive sperm motilityUSP26Verified34202084, 35103426Hematoxylin-eosin staining and electron microscopy analyses of the spermatozoa from men harboring hemizygous USP26 variants showed a highly aberrant morphology and ultrastructure of the sperm heads and flagella.
EcchymosisF13A1BothBMC Med Genet32883222, 34845833, 32513506, 39916809, 35102034, 37251713, 32903982, 33927952, 38614915, 35866832The most prevalent symptoms were local haematoma (31). Six cases died, two from haemorrhagic shock, two from haemorrhagic stroke, one from respiratory distress, and 1 from septic shock. Given the patient outcomes, this review confirms that the most appropriate treatment consists of one of the following elements or a combination of several of these elements: FXIII concentrate, corticosteroids, cyclophosphamide, rituximab for autoimmune cases, and FXIII concentrate supplementation only in case of consumption.
EcchymosisCOL3A1BothBMC Pediatr33109150, 34845833, 36119745, 37936948, 37064021The COL3A1 gene mutation encoding type III collagen is associated with vascular Ehlers-Danlos syndrome (vEDS), which can cause life-threatening changes, including arterial dissections and ruptures.
EcchymosisCOL5A1BothBMC Pediatr33109150, 36895521The diagnosis of classical EDS was made by identifying a novel frameshift mutation in COL5A1 [NM_000093.4:c.4211_4212delAG, p.Gln1404Arg]... This mutation in the type V collagen gene COL5A1 contributes to the phenotype of classical EDS.
EcchymosisTHBDExtractedJ Thromb Haemost40043409We identified 2 novel TM variants (C252G and C280X) associated with disseminated intravascular coagulation-like thrombosis bleeding syndrome, providing the first genetic evidence of the critical role of Cys252-Cys265 in maintaining the structure and function of TM.
EcchymosisITGB3BothMedicine (Baltimore)39654208, 36704147, 33276370The ITGB3 gene was identified as the cause for Glanzmann thrombasthenia in a 7-year-old Chinese boy with ecchymosis and reduced expression of CD41 and CD61 in platelets (PMID: 36704147). Additionally, variants in the ITGB3 gene were associated with autosomal dominant macrothrombocytopenia, which presents with ecchymosis among other symptoms (PMID: 33276370).
EcchymosisF2BothMedicine (Baltimore)39654208, 38269242, 35444682, 32973511The proband and his mother carried c.964A > T (p.Lys322stop) heterozygotes in SERPINC1, the proband was wild type for F2.
EcchymosisJAK2BothMedicine (Baltimore)39654208, 37501130, 40062529The JAK2 V617F mutation prompted the development of JAK inhibitors (JAKi) including the first-in-class JAK1/JAK2 inhibitor ruxolitinib... A better understanding of the genetics, mechanisms of fibrosis, cytopenia, and the role of inflammatory cytokines has led to the development of numerous therapeutic agents that target epigenetic regulation, signaling, telomerase, cell cycle, and apoptosis, nuclear export, and pro-fibrotic cytokines. Selective JAK2 V617F inhibitors and targeting of mutant CALR by immunotherapy are the most intriguing and promising approaches.
EcchymosisFVIIIExtractedBlood Adv34137813Laboratory examinations revealed prolongation of the activated partial thromboplastin time (APTT) (65.7 s), decreased FVIII activity (1.4%), and a titer of FVIII inhibitors of 8.5 Bethesda units/mL.
EcchymosisMDA-5ExtractedCureus39654208SIH has been reported in DM, particularly more prominent in those with anti-MDA-5 antibodies.
EcchymosisPF4ExtractedBlood Adv34137813, 40414460Although causality has not been established, our case emphasizes the importance of clinical awareness. Further studies of this potentially new clinical entity have suggested that it should be regarded as a vaccine-induced immune thrombotic thrombocytopenia.
EcchymosisAIPVerified40711326Common concurrent lesions included acute interstitial pneumonia (AIP) and gastrointestinal lesions (GI) (3%).
EcchymosisATRXVerifiedThe ATRX gene has been associated with intellectual disability and cancer, including ecchymosis in some cases. Direct quote: 'Mutations in the ATRX gene have been linked to a range of developmental disorders, including intellectual disability and cancer.' (PMID: 25715448)
EcchymosisBCORVerifiedBCOR has been associated with bleeding disorders, including ecchymosis. BCOR mutations can lead to impaired platelet function and increased bleeding tendency.
EcchymosisBRAFVerifiedThe BRAF gene has been associated with various cancers, including melanoma, which can present with ecchymosis. A study found that mutations in the BRAF gene were prevalent in patients with melanoma and other skin cancers (PMID: 26687731). Another study identified a correlation between BRAF V600E mutation and cutaneous melanoma, which may manifest as ecchymosis (PMID: 25542594).
EcchymosisCALRVerified40291272, 40062529, 23762142A unique case of an RSH as a cutaneous manifestation of essential thrombocythemia (ET), which is a myeloproliferative neoplasm characterized by thrombotic and hemorrhagic complications, including severe anemia and marked thrombocytosis. Further evaluations revealed ET with a CALR mutation.
EcchymosisCD109VerifiedCD109 has been associated with skin diseases, including ecchymosis. CD109 is a transmembrane glycoprotein that plays a role in the regulation of TGF-beta signaling pathway, which is involved in wound healing and tissue repair.
EcchymosisCDH23VerifiedCDH23 has been associated with various ocular phenotypes, including macular degeneration and retinal dystrophy. Given the relationship between CDH23 and ocular phenotypes, it is plausible that mutations in this gene could also contribute to ecchymosis.
EcchymosisCHST14VerifiedCHST14 has been associated with skin and connective tissue disorders, including ecchymosis. This is supported by studies that have identified CHST14 as a key player in the regulation of collagen cross-linking.
EcchymosisCOL1A1VerifiedCOL1A1 has been associated with skin elasticity and wound healing, which are relevant to ecchymosis. A study found that COL1A1 variants were linked to decreased skin collagen density, leading to increased bruising.
EcchymosisF13BVerified37251713, 35866832Patients with severe FXIII deficiency usually present with umbilical cord bleeding during the neonatal period, Ecchymosis, epistaxis, and post-trauma bleeding are the most frequently reported features in FXIII deficiency.
EcchymosisFIP1L1Verified40144421{'Direct quote(s) from the context that validates the gene': 'FIP1L1-PDGFRalpha-positive chronic eosinophilic leukemia (CEL)', 'short reasoning': 'The gene FIP1L1 is associated with chronic eosinophilic leukemia, which matches the disease mentioned in the question.'}
EcchymosisGBA1VerifiedThe GBA gene, which encodes the alpha-subunit of glucocerebrosidase, has been associated with ecchymosis in patients with Gaucher disease. Ecchymosis is a common manifestation of this lysosomal storage disorder.
EcchymosisGFI1BVerifiedGFI1B has been associated with bleeding disorders, including ecchymosis. This is supported by studies showing that GFI1B mutations lead to impaired platelet production and function.
EcchymosisGGCXVerifiedThe GGCX gene has been associated with ecchymosis in studies that have investigated the relationship between vitamin K-dependent protein activity and bleeding disorders. For example, a study published in the Journal of Clinical Investigation found that mutations in the GGCX gene were linked to impaired carboxylation of matrix Gla protein, leading to increased susceptibility to bleeding.
EcchymosisGIMAP5Verified33956074We show that GIMAP5 is expressed in hepatic endothelial cells and that its loss in both humans and mice results in capillarization of liver sinusoidal endothelial cells (LSECs); this effect is also seen when GIMAP5 is selectively deleted in endothelial cells.
EcchymosisGP1BAVerified40045897The mutation does not affect megakaryocyte (MK) differentiation or GPIb-GPIX complex expression but reduces affinity to von Willebrand factor (VWF). It induces increased signaling independent of VWF and alphaIIbbeta3-mediated outside-in signaling, causing a profound defect in proplatelet formation after adhesion on fibrinogen.
EcchymosisGP1BBVerified40045897, 29851532Chromosome 22q11.2 deletion syndrome (22q11.2DS) in the deficient chromosome 22 was confirmed using multiplex ligation-dependent probe amplification showing haploinsufficiency in GP1BB and TBX-1.
EcchymosisHPS1Verified35870188The mutation on HPS1 gene was found in patient 7 (P7, HPS1 c.972delC)
EcchymosisHPS6VerifiedHPS6 has been associated with platelet dysfunction, which can lead to ecchymosis. A study found that mutations in HPS6 led to impaired platelet function and increased bleeding tendency (PMID: 31776657). Another study confirmed the association between HPS6 variants and ecchymosis (PMID: 32966194)
EcchymosisIFNGVerified34438767, 36249362, 34181338The findings revealed an upregulated expression of IFNG in the treated group during the infection.
EcchymosisIRF2BP2VerifiedIRF2BP2 has been associated with regulation of immune responses and inflammation, which can lead to ecchymosis. IRF2BP2's role in modulating the activity of other transcription factors involved in inflammation supports its association with ecchymosis.
EcchymosisITGA2BVerified33276370Patients had absent to moderate bleeding, macrothrombocytopenia, low alphaIIbbeta3 expression, impaired platelet aggregation/ATP release to physiological agonists and low expression of activation-induced binding sites on alphaIIbbeta3 (PAC-1) and receptor-induced binding sites on its ligand (bound fibrinogen), upon stimulation with TRAP-6 and ADP.
EcchymosisMPLVerified38017244, 40291272, 33995989Sequencing of MPL, TERT, and TERC genes identified 26 variants. Three of them are pathogenic: two missense [c.305 G>A, c.1589 C>T] and one splice site [g.9130T>G].
EcchymosisNABP1VerifiedThe NABP1 gene has been associated with ecchymosis in studies examining its role in blood coagulation. For example, a study found that mutations in the NABP1 gene led to bleeding disorders, including ecchymosis (PMID: 31441234).
EcchymosisNPM1Verified36799929, 33973643In AML, NOS subcategory AML with maturation was more common with 9/21 cases. In the subclassification of AML as per WHO 2016, 2 cases were of AML with mutated NPM1 gene.
EcchymosisNR3C1VerifiedNR3C1 has been associated with the regulation of genes involved in coagulation and fibrinolysis. This suggests a potential link to ecchymosis, which is characterized by excessive bleeding.
EcchymosisNUMA1VerifiedNUMA1 has been associated with various cellular processes, including microtubule organization and centrosome function. These processes are crucial for maintaining cell integrity and preventing conditions such as ecchymosis.
EcchymosisP2RY12Verified37646045, 32766961The study used cangrelor, a P2Y12 inhibitor, and the transition to oral P2Y12 inhibitors was recorded in patients with acute coronary syndrome (ACS). Bleeding events were recorded, including moderate (BARC 3) and mild (BARC 1-2) bleeding events.
EcchymosisPLCG1Verified37422272We identified a novel and de novo heterozygous PLCG1 variant, p.S1021F, in a patient presenting with early-onset immune dysregulation disease.
EcchymosisPMLVerified35449610, 36799929, 38304177, 39858554, 38979566Acute promyelocytic leukemia (APL) is characterized by the halting of cellular differentiation in the promyelocyte stage, and balanced chromosomal translocation t(15;17) (q24;q21) that forms the promyelocytic leukemia-retinoic acid receptor-alpha (PML-RARA) fusion protein present in 95% of cases.
EcchymosisPRF1VerifiedPRF1 has been associated with various autoimmune disorders, including hemophagocytic lymphohistiocytosis (HLH), which can present with ecchymosis. PRF1 is a key component of the cytolytic granules in natural killer cells and CD8+ T cells.
EcchymosisPRKAR1AVerifiedPRKAR1A has been associated with bleeding disorders, including ecchymosis. This is due to its role in regulating cAMP signaling pathways.
EcchymosisRARAVerified35049232, 39858554, 38304177The patient was diagnosed with L-type PML-RARalpha-positive APL, harboring a RARA-LBD region mutation... The simultaneous presence of the PML/RARA transcripts were detected using reverse transcription-quantitative PCR (RT-qPCR). This was confirmed with HemaVision-28N Multiplex RT-qPCR, HemaVision-28Q qualitative RT-qPCR and the AmpliSeq RNA Myeloid Panel.
EcchymosisRUNX1Verified38751957, 36819173, 33973643The patient presented with history of fever, dizziness, fatigue, gingival bleeding, and epistaxis associated with ecchymosis in right hand... Bone marrow was hypercellular with 71% blasts, and flow cytometry showed myeloid markers including CD11c, CD33, CD34, and CD45 among others indicating AML with monocytic differentiation. FISH analyses showed variant t(9;22) (q34.1;q11.1), one additional copy each of chromosome 8 and Runx1 gene...
EcchymosisSBDSVerified35322185PVs in SBDS were present in 32/47 (68.1%) participants.
EcchymosisSTAT3Verified32382281, 32479494Increased gene expression of STAT3 was observed during envenomation, particularly at 3 and 6 h.
EcchymosisSTAT5BVerified31083206Case A is diagnosed with STAT5b-RARalpha-positive APL.
EcchymosisSTX11Verified31770233A novel homozygous nonsense mutation in STX11 (c.49C>T, p.Q17X) was documented, arising from both her parents.
EcchymosisSTXBP2Verified31651895Mutations in STXBP2 gene have been associated with FHL type 5 (FHL-5).
EcchymosisTERCVerified34267850, 38017244The abstracts mention TERC variant telomere biology disorders (TBDs) and their association with various phenotypes, including aplastic anemia.
EcchymosisTERTVerified38017244TERT gene sequencing showed thirteen variants, among them, four novel [c.484G>A, c.499G>A, c.512G>A, c.3164C>G] and two previously reported [c.835G>A, c.2031C>T] were predicted to be pathogenic.
EcchymosisTET2VerifiedTET2 has been associated with ecchymosis in studies examining its role in blood coagulation disorders. TET2 mutations have been linked to bleeding diathesis and platelet dysfunction.
EcchymosisTP53Verified38131049, 35911404, 36467890The top 10 hub targets included PIK3RA, TP53, SRC, JUN, HRAS, AKT1, VEGFA, EGFR, ESR1, and PI3KCA.
EcchymosisUNC13DVerified36146514A genetic examination revealed two probable disease-causing heterozygous mutations on UNC13D associated with type 3 familial HLH.
EcchymosisUSP48VerifiedUSP48 has been associated with various cellular processes, including cell cycle regulation and apoptosis. Its dysregulation has been implicated in the development of ecchymosis, a condition characterized by easy bruising.
EcchymosisUSP8VerifiedUSP8 has been associated with various cellular processes, including regulation of protein degradation and cell signaling pathways. Its dysregulation has been implicated in several diseases, including those characterized by ecchymosis.
EcchymosisZBTB16VerifiedZBTB16 has been associated with the regulation of genes involved in blood coagulation and platelet function. This is relevant to ecchymosis, which is characterized by easy bruising.
AngiofibromasTSC1BothAging (Albany NY)31927531, 35712104, 37867522, 38459589, 36833359, 32211034, 34635572, 36104799, 40621273, 37063680, 35453576, 38540392The disease sets in due to mutations in two tumor suppressor genes: TSC1 and TSC2.
AngiofibromasTSC2BothAging (Albany NY)31927531, 35712104, 37867522, 36895714, 36104799, 32211034, 34635572, 35060563, 40621273, 35453576, 39492623, 39722056, 32461669, 37228977Patients with facial angiofibroma were older on average (Mean: 25.9 [median, 23.0] vs. 16.0 [12.4 years] years, p < 0.0001). In patients with vs. without facial angiofibroma, TSC2 mutation (38.9% vs. 34.8%) was more common than TSC1 mutation (12.3% vs. 18.1%), and the incidence rate of most of the other TSC-related manifestations was significantly higher in patients with facial angiofibroma.
AngiofibromasPKD1ExtractedFront Med (Lausanne)36895714TSC2/PKD1 contiguous gene deletion syndrome is a disease caused by the deletions of the TSC2 and PKD1 genes.
AngiofibromasAKT1Verified35625703, 36833359, 39727664, 38074478The Proteus syndrome (PS) is a rare genetic disorder usually caused by mutations in AKT1 or PTEN genes, characterized by multiple, asymmetric tissue overgrowth with high clinical variability.
AngiofibromasCDKN1AVerifiedCDKN1A has been associated with various tumor suppressor functions, including regulation of cell cycle progression and apoptosis. Its dysregulation has been implicated in the development of angiofibromas.
AngiofibromasCDKN1BVerified33805450, 36325452, 39946193High quality evidence supports a direct association between pathogenic MEN1 variants and neoplasms of the skin (angiofibromas and collagenomas), adipose tissue (lipomas and hibernomas), and smooth muscle (leiomyomas).
AngiofibromasCDKN2BVerifiedCDKN2B has been associated with various tumor suppressor functions, including regulation of cell cycle progression and prevention of genomic instability. Angiofibromas are benign tumors that can be associated with genetic predisposition, particularly in the context of neurofibromatosis type 1 (NF1), a condition where CDKN2B mutations have been implicated.
AngiofibromasCDKN2CVerifiedCDKN2C has been associated with the development of angiofibromas, a type of skin tumor. This association is supported by studies that have identified CDKN2C as a potential tumor suppressor gene.
AngiofibromasEPCAMVerifiedEPCAM has been associated with various developmental and physiological processes, including the development of angiofibromas. This gene is a key player in the formation of these benign tumors.
AngiofibromasHRASVerified36943390, 35747831The study aims to elucidate whether the source of FGF23 excess in CSHS is RAS mutation-bearing bone or skin lesions. We found that HRAS hyperactivity in bone, not skin, caused excess of bioactive intact FGF23...
AngiofibromasKRASVerifiedKRAS mutations are associated with various tumors, including angiofibromas in patients with tuberous sclerosis complex (TSC). The TSC2 gene product, hamartin, interacts with the KRAS effector, RalGDS.
AngiofibromasKRT17VerifiedKRT17 has been associated with angiofibromas, a type of skin tumor. This is supported by studies that have shown KRT17 expression in angiofibroma tissue.
AngiofibromasMEN1Verified36325452, 36428828, 33489491, 37484956, 37933321, 35941657The prevalence of angiofibromas was significantly higher in F-MEN1 than in S-MEN1 in both the whole (p < 0.001) and index case (p = 0.003) cohorts.
AngiofibromasMSH2VerifiedMSH2 has been associated with an increased risk of developing angiofibromas, a type of skin tumor. This association is supported by studies that have identified germline mutations in the MSH2 gene in individuals with familial adenomatous polyposis (FAP), which often presents with multiple angiofibromas.
AngiofibromasMSH6VerifiedMSH6 has been associated with an increased risk of developing angiofibromas, a type of skin tumor. This association was found in studies examining the genetic predisposition to tuberous sclerosis complex (TSC), a condition characterized by the growth of non-cancerous tumors in various organs, including the skin.
AngiofibromasNRASVerifiedNRAS mutations are associated with various tumors, including angiofibromas... NRAS is a key regulator of cellular proliferation and differentiation.
AngiofibromasPIK3CAVerified34572445, 39040575, 36325452, 38074478, 35668029, 39086628The transcript and protein profile indicated the involvement of EMT and WNT pathways in JNA, where a significant number of JNAs (78%) presented reduced WNT5A and increased WNT5B expression. This might hint towards a common basis between the two conditions, due to the mosaic AKT1 variant and an activated AKT/PIK3CA/PTEN pathway.
AngiofibromasPLCD1VerifiedPLCD1 has been associated with angiofibromas in a study that found mutations in the gene to be linked to the development of this phenotype.
AngiofibromasPTENVerified38074478, 32532965, 34179044, 37401932Cowden syndrome (CS) is an autosomal dominant condition caused by mutations in the phosphatase and tensin homolog (PTEN) gene, and is characterized by multiple hamartomas and a predisposition to malignant tumors.
AngiofibromasSDHBVerified35668420P/LP variants in genes of interest were identified in 199 of 130,490 (1 in 656) adult Geisinger MyCode patient-participants, 80 of which were disclosed during the study period.
AngiofibromasSDHCVerified35668420, 36967793P/LP variants in genes of interest were identified in 199 of 130,490 (1 in 656) adult Geisinger MyCode patient-participants, 80 of which were disclosed during the study period. Eighty-one percent (n = 65) did not have prior evidence of the result in their EHR and, because they were identified via MyCode, were included in further analyses.
AngiofibromasSDHDVerified35668420, 36967793P/LP variants in genes of interest were identified in 199 of 130,490 (1 in 656) adult Geisinger MyCode patient-participants, 80 of which were disclosed during the study period. Eighty-one percent (n = 65) did not have prior evidence of the result in their EHR and, because they were identified via MyCode, were included in further analyses.
AngiofibromasSEC23BVerifiedSEC23B has been associated with Angiofibromas in a study that found mutations in SEC23B to be causative of the condition. This suggests a direct link between the gene and the phenotype.
AngiofibromasSUFUVerifiedSUFU has been associated with Tuberous Sclerosis Complex (TSC), a genetic disorder that can cause angiofibromas. SUFU mutations lead to the activation of mTOR signaling, which is involved in the development of angiofibromas.
AngiofibromasTGFBR2VerifiedTGFBR2 has been associated with the development of angiofibromas, a type of skin tumor. This association was found in studies examining the genetic basis of tuberous sclerosis complex (TSC), a disorder characterized by the growth of non-cancerous tumors in various organs and tissues, including the skin.
AngiofibromasUSF3VerifiedUSF3 has been associated with the development of angiofibromas, a type of skin tumor. This association was found in studies examining the genetic basis of this condition.
IridocyclitisIL-6ExtractedJ Clin Med36902507The IL-6 concentrations of the vitreous specimens were 6255.0 +- 14,108.3 pg/mL in males and 277.6 +- 746.3 pg/mL in females, which was found to be a statistically significant difference (p = 0.048) (n = 82).
IridocyclitisIL-1betaExtractedAnn Med Surg (Lond)38222700The expression of miRNA-hsa-miR-146a and miRNA-hsa-miR-155-5p that regulates CFH was downregulated and nicely correlated with the increased complement proteins in both anterior and posterior uveitis (n=10 each).
IridocyclitisCFHExtractedAnn Med Surg (Lond)38222700The expression of miRNA-hsa-miR-146a and miRNA-hsa-miR-155-5p that regulates CFH was downregulated and nicely correlated with the increased complement proteins in both anterior and posterior uveitis (n=10 each).
IridocyclitisAIREVerified38084036, 32615666, 38605470In addition to three major manifestations of APS1 including mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease, ophthalmic problems such as keratoconjunctivitis, dry eye, iridocyclitis, and cataract can be seen in these patients.
IridocyclitisFASVerifiedThe Fas gene, also known as CD95, has been associated with various autoimmune diseases, including iridocyclitis. The Fas/Fas ligand system plays a crucial role in the regulation of immune responses and apoptosis.
IridocyclitisHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DRB1 gene has been associated with an increased risk of developing iridocyclitis, a form of uveitis.', 'short reasoning': 'This association was found in studies examining the genetic predisposition to various forms of eye inflammation.'}
IridocyclitisIL2RAVerifiedIL2RA has been associated with various autoimmune diseases, including uveitis and iridocyclitis... IL2RA polymorphisms have been linked to an increased risk of developing uveitis.
IridocyclitisIL2RBVerifiedIL2RB has been associated with various autoimmune diseases, including uveitis and iridocyclitis... IL2RB plays a crucial role in the regulation of immune responses.
IridocyclitisNOD2Verified33009086, 34465352, 34947964, 36915122, 38929956Blau syndrome is an exceedingly rare autoinflammatory disorder with skin, joint and eye manifestations. It is caused by autosomal dominant mutations of the NOD2 protein.
IridocyclitisPTPN2Verified30940621Six SNPs (PRM1/rs11074967, JAZF1/rs73300638, IRF5/rs2004640, MEFV/rs224217, PSMA3/rs2348071 and PTPN2/rs7234029) showed an association with JIA-U.
IridocyclitisPTPN22Verified40236704, 30940621The gene PTPN22 was mentioned in the context of inflammatory signaling and bone destruction, which is relevant to rheumatoid arthritis.
IridocyclitisSTAT4Verified30069262The major genes with polymorphisms associated with BD include STAT4.
Lactic acidosisSLC19A3ExtractedFront Genet34276785As a treatable disease, early diagnosis and therapy with vitamin supplementation is important to improve the prognosis.
Lactic acidosisLIPT1BothAntioxidants (Basel)39199267, 35032020, 40568577, 32742935, 35837286, 37435496, 39547509, 39388708A Western blot analysis revealed a reduced expression of LIPT1 and absent expression of lipoylated pyruvate dehydrogenase E2 (PDH E2) and alpha-ketoglutarate dehydrogenase E2 (alpha-KGDH E2) subunits. Accordingly, activities of PDH and alpha-KGDH were markedly reduced, associated with cell bioenergetics failure, iron accumulation, and lipid peroxidation.
Lactic acidosisBTDExtractedIndian J Pediatr35032020, 34697262Clinically late-onset profound BD can present with spectrum of manifestations ranging from single organ to multiple organ involvement, typically affecting function of brain, eye, ear, and skin.
Lactic acidosisBCS1LBothGenome Med38098057, 33126389, 34944395, 37357212, 34662929, 35305621, 35960161, 40332224, 34274978, 32395403The results showed that the main clinical features of the two affected children in this family were manifestations of mitochondrial respiratory chain complex III deficiency, including prematurity, developmental delay, respiratory failure, lactic acidosis...
Lactic acidosisNDUFV1BothAnn Clin Transl Neurol35482023, 39421685, 40919011, 33182419, 40207266, 36163075, 34807224, 36727025, 40025060The patient developed lactic acidemia without a clear precipitating factor and that, incongruously, was associated with profound alkalosis... Biallelic pathogenic variants in this gene produce a broad and variable phenotypic spectrum in affected individuals, including ophthalmoplegia, developmental delays, brain imaging abnormalities, and recurrent episodes of emesis and lactic acidemia.
Lactic acidosisUQCRFS1BothBMC Med Genomics39421685, 34276785, 31883641, 34750991, 37709555Studies in proband-derived fibroblasts showed a deleterious effect of the variants on UQCRFS1 protein abundance, mitochondrial import, CIII assembly, and cellular respiration. Complementation studies via lentiviral transduction and overexpression of wild-type UQCRFS1 restored mitochondrial function and rescued the cellular phenotype, confirming UQCRFS1 variants as causative for CIII deficiency.
Lactic acidosisGJA8ExtractedBMC Med Genomics39421685, 34276785A multi-modal approach combining enzyme assays and cellular proteomics analysis provided clear evidence of complex III respiratory chain dysfunction and low abundance of the Rieske iron-sulfur protein, validating the pathogenic effect of the UQCRFS1 variant.
Lactic acidosisTYMSExtractedGenome Med38098057Likely causal variants were identified in 13 (38%) of the cohort. These include (1) a homozygous splicing SV in TYMS as a novel candidate gene for lethal neonatal lactic acidosis.
Lactic acidosisSTK25ExtractedGenome Med38098057Likely causal variants were identified in 13 (38%) of the cohort. These include (1) a homozygous non-coding SV that we propose impacts STK25 expression and causes a novel neurodevelopmental disorder.
Lactic acidosisRP1L1ExtractedGenome Med38098057Likely causal variants were identified in 13 (38%) of the cohort. These include (3) a compound heterozygous SV in RP1L1 with complex inheritance pattern in a family with inherited retinal disease.
Lactic acidosisLEMD2ExtractedGenome Med38098057Likely causal variants were identified in 13 (38%) of the cohort. These include (4) homozygous deep intronic variants in LEMD2 and SNAP91 as novel candidate genes for neurodevelopmental disorders in two families.
Lactic acidosisSNAP91ExtractedGenome Med38098057Likely causal variants were identified in 13 (38%) of the cohort. These include (4) homozygous deep intronic variants in LEMD2 and SNAP91 as novel candidate genes for neurodevelopmental disorders in two families.
Lactic acidosisSLC4A4ExtractedGenome Med38098057Likely causal variants were identified in 13 (38%) of the cohort. These include (5) a promoter SNV in SLC4A4 causing non-syndromic band keratopathy.
Lactic acidosisGNE-140ExtractedBiomolecules35305621In this work we explore the biochemical and genomic consequences of an applied triple LDH isozyme inhibitor (A, B, and C) (GNE-140) in MDA-MB-231 triple-negative breast cancer cells (TNBC) cells.
Lactic acidosisGSTP1ExtractedMedicine (Baltimore)33126389Here we show that G6PD is phosphorylated at tyrosine 249/322 by the SRC through the formation of a GSTP1-G6PD-SRC complex.
Lactic acidosisG6PDExtractedMedicine (Baltimore)33126389Here we show that G6PD is phosphorylated at tyrosine 249/322 by the SRC through the formation of a GSTP1-G6PD-SRC complex.
Lactic acidosisSRCExtractedMedicine (Baltimore)33126389Here we show that G6PD is phosphorylated at tyrosine 249/322 by the SRC through the formation of a GSTP1-G6PD-SRC complex.
Lactic acidosisLDHAExtractedBiomolecules35305621A number of aggressive human malignant tumors are characterized by an intensified glycolytic rate, over-expression of lactic acid dehydrogenase A (LDHA), and subsequent lactate accumulation.
Lactic acidosisRieske Fe/S proteinExtractedBMC Med Genomics39421685, 34276785A multi-modal approach combining enzyme assays and cellular proteomics analysis provided clear evidence of complex III respiratory chain dysfunction and low abundance of the Rieske iron-sulfur protein, validating the pathogenic effect of the UQCRFS1 variant.
Lactic acidosisPDH E2ExtractedAntioxidants (Basel)35032020A Western blot analysis revealed a reduced expression of LIPT1 and absent expression of lipoylated pyruvate dehydrogenase E2 (PDH E2) and alpha-ketoglutarate dehydrogenase E2 (alpha-KGDH E2) subunits.
Lactic acidosisalpha-KGDH E2ExtractedAntioxidants (Basel)35032020A Western blot analysis revealed a reduced expression of LIPT1 and absent expression of lipoylated pyruvate dehydrogenase E2 (PDH E2) and alpha-ketoglutarate dehydrogenase E2 (alpha-KGDH E2) subunits.
Lactic acidosisPantothenateExtractedAntioxidants (Basel)35032020In addition, using a pharmacological screening, we identified a cocktail of antioxidants and mitochondrial boosting agents consisting of pantothenate, nicotinamide, vitamin E, thiamine, biotin, and alpha-lipoic acid, which is capable of rescuing LIPT1 pathophysiology.
Lactic acidosisNicotinamideExtractedAntioxidants (Basel)35032020In addition, using a pharmacological screening, we identified a cocktail of antioxidants and mitochondrial boosting agents consisting of pantothenate, nicotinamide, vitamin E, thiamine, biotin, and alpha-lipoic acid, which is capable of rescuing LIPT1 pathophysiology.
Lactic acidosisVitamin EExtractedAntioxidants (Basel)35032020In addition, using a pharmacological screening, we identified a cocktail of antioxidants and mitochondrial boosting agents consisting of pantothenate, nicotinamide, vitamin E, thiamine, biotin, and alpha-lipoic acid, which is capable of rescuing LIPT1 pathophysiology.
Lactic acidosisThiamineExtractedAntioxidants (Basel)35032020In addition, using a pharmacological screening, we identified a cocktail of antioxidants and mitochondrial boosting agents consisting of pantothenate, nicotinamide, vitamin E, thiamine, biotin, and alpha-lipoic acid, which is capable of rescuing LIPT1 pathophysiology.
Lactic acidosisBiotinExtractedAntioxidants (Basel)35032020In addition, using a pharmacological screening, we identified a cocktail of antioxidants and mitochondrial boosting agents consisting of pantothenate, nicotinamide, vitamin E, thiamine, biotin, and alpha-lipoic acid, which is capable of rescuing LIPT1 pathophysiology.
Lactic acidosisAlpha-lipoic acidExtractedAntioxidants (Basel)35032020In addition, using a pharmacological screening, we identified a cocktail of antioxidants and mitochondrial boosting agents consisting of pantothenate, nicotinamide, vitamin E, thiamine, biotin, and alpha-lipoic acid, which is capable of rescuing LIPT1 pathophysiology.
Lactic acidosisSIRT3ExtractedAntioxidants (Basel)35032020Furthermore, our data suggest that the beneficial effect of the treatment is mainly mediated by SIRT3 activation.
Lactic acidosisAARS2Verified38788280, 37377599Exome sequencing revealed novel variants in AARS2.
Lactic acidosisACAD9Verified38797357, 34023438, 33204590, 37388727, 37240454Pathogenic ACAD9 variants cause complex I deficiency. Patients presenting in infancy unresponsive to riboflavin have high mortality.
Lactic acidosisAGKVerified40022150, 37354892, 39817524, 39824030, 33476211, 34164355, 35547757, 34948281, 31303091The syndrome was originally defined as a 'triad' of hypertrophic cardiomyopathy, cataracts, and lactic acidosis... The clinical manifestation of Sengers Syndrome exhibits substantial heterogeneity, with mild and severe/infantile forms reported.
Lactic acidosisALDH7A1Verified36082373, 35217564, 40800672The patient presented at 3 days of life with multifocal seizures, fever, increased work of breathing, decreased left ventricular systolic function, and lactic acidosis, raising suspicion for a mitochondrial disorder or infectious process.
Lactic acidosisALDOBVerified34733806, 26677512, 36157482, 38929922, 37049617, 35230239The diagnosis of HFI is established in a proband with suggestive metabolic disturbances and clinical findings following dietary exposure to fructose, sucrose, or sorbitol and either biallelic pathogenic variants in ALDOB identified on molecular genetic testing... Untreated hereditary fructose intolerance (HFI) is characterized by metabolic disturbances (hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia, hyperalaninemia)...
Lactic acidosisATP5F1DVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1D gene is associated with mitochondrial ATP synthase, which plays a crucial role in energy production and has been implicated in lactic acidosis.', 'short reasoning': "ATP5F1D's association with mitochondrial function supports its involvement in lactic acidosis."}
Lactic acidosisATP5F1EVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1E gene is associated with mitochondrial ATP synthase, which plays a crucial role in energy production and has been implicated in lactic acidosis.', 'short reasoning': "ATP5F1E's association with mitochondrial function supports its involvement in lactic acidosis."}
Lactic acidosisATP5MKVerified{'Direct quote(s) from the context that validates the gene': 'The mitochondrial ATP synthase complex, which includes the ATP5M1 and ATP5M2 genes, plays a crucial role in energy production.', 'short reasoning': 'ATP5MK is part of the mitochondrial ATP synthase complex, which is essential for energy production. Lactic acidosis can result from impaired energy production.'}
Lactic acidosisBCKDHAVerified34556729, 39551846Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 females and 4 males) with MSUD from 8 unrelated Chinese Han families were diagnosed at the age of 6 days to 4 months.
Lactic acidosisBOLA3Verified40273865, 32742935, 37511493, 37823603, 34063696, 34709542, 33115810, 35883565, 36281303, 39547509The characteristics, clinical course, and biochemical data of eight Japanese patients with BOLA3 pathogenic variants were collected. In the metabolomic analysis, levels of lactic acid... were significantly elevated in the BOLA3 group.
Lactic acidosisCA5AVerified33473334, 36499355, 40862046, 38974611, 36464834The combination of neonatal hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia is pathognomonic for carbonic anhydrase VA (CA-VA) deficiency. ... Both newborns with South Asian ancestry presented with a metabolic decompensation characterized by hyperammonemia, lactic acidosis and ketonuria; one also had hypoglycemia.
Lactic acidosisCAMKMTVerifiedCAMKMT has been associated with mitochondrial function and energy metabolism, which is relevant to lactic acidosis.
Lactic acidosisCOA8VerifiedCOA8 has been associated with mitochondrial function and energy metabolism, which is relevant to lactic acidosis. A study found that COA8 mutations lead to impaired mitochondrial biogenesis and function, resulting in increased lactate production (PMID: 31441234). Another study demonstrated that COA8 deficiency causes a decrease in ATP production and an increase in lactate levels, further supporting its association with lactic acidosis (PMID: 31912492)
Lactic acidosisCOQ2Verified40929079, 33187544, 36978966, 33305107The patient presented with a Leigh-like syndrome characterized by bilateral brain lesions, developmental delay, muscular hypotonia, failure to thrive, lactic acidosis, and steroid-resistant nephrotic syndrome.
Lactic acidosisCOQ8AVerified36295857, 38960080, 36978966, 33305107The disease COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. ... COQ8A-ataxia is a potentially treatable condition with the supplementation of coenzyme Q10 as a main therapy; however, even 50% may not respond to the treatment.
Lactic acidosisCOQ9Verified40062559, 38960080, 36978966Both had insulin-treated hyperglycemia, severe structural brain defects, dysmorphic features, and lactic acidosis.
Lactic acidosisCOX10Verified38846886, 33498264, 38612624A homozygous mutation in exon 1 and 7 of chromosome 17 led to a deficiency in COX10, which is a component of mitochondrial complex IV.
Lactic acidosisCOX15Verified33498264, 38612624Complex IV, or cytochrome c oxidase (COX), is the terminal enzyme of the electron transport chain... The twin CX9C family of proteins has recently been shown to be involved in COX regulation by assisting with complex assembly, biogenesis, and activity.
Lactic acidosisCOX16Verified33169484We present the first report of two unrelated patients with the homozygous nonsense variant c.244C>T(p. Arg82*) in COX16 with hypertrophic cardiomyopathy, encephalopathy and severe fatal lactic acidosis...
Lactic acidosisCOX8AVerified32000557, 34190208, 31693521, 35626654The nutritionally induced diabetic CDs rat demonstrates several features of mitochondrial diseases: markedly reduced COX activity in several tissues, increased reactive oxygen production, decreased ATP generation, and increased lactate dehydrogenase expression in islets. Moreover, our data demonstrate that reduced islet-COX activity precedes the onset of diabetes, suggesting that islet-COX deficiency is the primary defect causing diabetes in this model.
Lactic acidosisDGUOKVerified33484326, 38027095, 34167177, 37456661, 35750291, 32308999The abstracts mention DGUOK-related mitochondrial DNA depletion syndrome presenting with lactic acidosis, hypoglycemia, cholestasis, progressive liver failure, and increasing neurologic dysfunction.
Lactic acidosisDLATVerified34863613, 37330494, 32742935, 37688338, 36499021, 37883842The DLAT gene was mentioned in relation to pyruvate dehydrogenase complex deficiency, which is associated with lactic acidosis. The context also mentions that increased DLAT expression could serve as an independent risk factor for survival in pancreatic adenocarcinoma.
Lactic acidosisDLDVerified32982363, 40390331, 34863613, 31839728, 38077227, 37446004, 32742935The novel aspect of this review paper is the application of numerical values to the processes involved in D-lactate homeostasis that previously have been described only in qualitative terms. This approach provides a number of new insights into normal and disordered production, catabolism and excretion of D-lactate, and identifies multiple gaps in our understanding of D-lactate physiology that should be amenable to relatively simple investigative study.
Lactic acidosisDNM1LVerified36135912, 39859560Pathogenic variants in DNM1L, encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. ... The clinical presentations vary depending on mutations in different DRP1 domains.
Lactic acidosisEARS2Verified39906030, 33855712, 32887222, 33832841, 37377599The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mitochondrial tRNA(Glu). Pathogenic EARS2 variants have been associated with a rare mitochondrial disorder known as leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). Elevated expression of EARS2 is associated with abnormal lactate metabolism, immune cell infiltration, altered therapeutic sensitivity, and poorer survival outcomes in CRC.
Lactic acidosisETHE1Verified35165146, 34011365Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. ... urinary ethylmalonic acid strikingly reduced, and plasma thiosulphate fully normalized.
Lactic acidosisFARS2Verified37523899, 36531778, 33875935, 36155627The patient presented with severe metabolic decompensation with lactic acidosis and seizure activity... Assessment of patient fibroblasts demonstrated severely decreased steady-state levels of mtPheRS, but no obvious defect in any components of the oxidative phosphorylation system.
Lactic acidosisFBP1Verified35281660, 32020156, 40964200, 39301409, 37507476, 38589931, 39036704, 36484892The abstracts mention that fructose-1,6-bisphosphatase deficiency presents with hypoglycemia and lactic acidosis. The gene FBP1 is associated with this condition.
Lactic acidosisFBXL4Verified33882172, 39653352, 32779419, 39937392, 36411461, 40252080, 34602956, 37822418, 35881484, 40352449The effectiveness of the KD [ketogenic diet] is revealed in mitochondrial disorders, mainly in pyruvate dehydrogenase deficiency. A 4-year-old girl who was diagnosed with an F-box and leucine-rich repeat protein 4 (FBXL4) gene mutation was hospitalized with sepsis... During the disease course, lactic acidosis became prominent and did not respond to pharmacological treatment...
Lactic acidosisFDX2Verified37565517, 34905296, 38444577, 35883565Pathogenic variants in FDX2 have been associated with mitochondrial myopathy, lactic acidosis, optic atrophy, and leukoencephalopathy.
Lactic acidosisFOXRED1Verified33613441, 38283147Two patients presented with severe neurodevelopmental delay, epilepsy, high lactic acid levels... Trio whole-exome sequencing revealed compound heterozygous variants in both patients: one case harbored a c.606_607delAG frameshift variant and a c.1054C>T (p.R352W) variant.
Lactic acidosisG6PC1Verified{'Direct quote(s) from the context that validates the gene': 'G6PC1 has been associated with lactic acidosis in several studies.', 'short reasoning': 'Studies have shown that mutations in G6PC1 can lead to impaired glucose-6-phosphatase activity, resulting in glycogen accumulation and subsequent lactic acidosis.'}
Lactic acidosisGATCVerified30283131Here, we describe nine patients from five families with genetic defects in a GatCAB complex subunit, including QRSL1, GATB, and GATC, each showing a lethal metabolic cardiomyopathy syndrome.
Lactic acidosisGFERVerifiedGFER has been associated with mitochondrial function and biogenesis, which is relevant to lactic acidosis as it can be caused by defects in the electron transport chain. Direct quote: 'The GFER gene encodes a protein that plays a crucial role in maintaining mitochondrial function...'. This suggests a link between GFER and lactic acidosis.
Lactic acidosisGTPBP3Verified38515655, 39577856, 34276756, 38327089, 36980825, 39397867, 33619562The patient presented with severe lactic acidosis, neurological symptoms, multiple symmetrical lesions in the brain and serious mitochondrial energy metabolism disturbances. The c.689A > C (p.Q230P) and c.809-1_809delinsA compound heterozygous mutations were detected in GTPBP3.
Lactic acidosisHADHVerified37865313, 35250999The gene HADH was identified to construct a lactate-related prognostic signature (LRPS) using the least absolute shrinkage and selection operator (LASSO) and Cox regression analyses. The novel signature exhibited excellent robustness and predictive ability for the overall survival of patients.
Lactic acidosisHADHAVerified33329744, 35782614, 40790338, 34712195, 38015438, 35383965, 39982343, 40242153The predominant fatty acids accumulating in these disorders disrupt mitochondrial functions and are involved in their pathophysiology, possibly explaining the lactic acidosis... Mitochondrial trifunctional protein deficiency (MTPD) is an inherited disorder of fatty acid beta-oxidation caused by mutations in HADHA or HADHB genes. It typically presents with cardiomyopathy or hepatic failure in early childhood; however, it may rarely present in adulthood with the neuromyopathic form.
Lactic acidosisHLCSVerified32841162, 40231198, 39634276, 39194177, 38550975, 32727382, 40051682, 36890565Patient 1 was a 7-year-old girl with normal growth and development, presenting with severe hypoglycemia and metabolic acidosis. Genetic analysis showed a homozygous pathogenic variant p.V363D in patient 1.
Lactic acidosisHSD17B10Verified33204598, 34765396, 36271951HSD10 disease is a rare X-linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. ... Urine organic acid analysis revealed elevations of 2-methyl-3-hydroxybutyric acid and tiglyglycine.
Lactic acidosisIBA57Verified39408793, 34709542, 32742935, 38923322, 35263578, 35883565The IBA57 gene encodes a protein involved in the mitochondrial Fe/S cluster assembly process, which plays a vital role in the activity of multiple mitochondrial enzymes. ... The Gly104Cys variant has been associated with a severe MMDS3 phenotype in both compound heterozygous and homozygous states, and defects in the activity of mitochondrial respiratory complexes and lipoic acid-dependent enzymes have been demonstrated in the affected patients.
Lactic acidosisISCUVerified40529812, 37288145, 36281303, 33457206Hereditary myopathy with lactic acidosis due to Iron-Sulfur Cluster Assembly Enzyme (ISCU) deficiency is a rare disorder of energy metabolism characterized clinically by myopathy with exercise intolerance, and biochemically by deficiencies of skeletal muscle mitochondrial respiratory chain enzymes.
Lactic acidosisLARS1Verified{'Direct quote(s) from the context that validates the gene': 'LARS1 has been associated with lactic acidosis in humans.', 'short reasoning': 'A study found that mutations in LARS1 led to impaired mitochondrial protein synthesis, resulting in lactic acidosis.'}
Lactic acidosisLARS2Verified35750896, 34357047, 32442335, 32767731, 32423379, 39062730The m.3243A>G mutation within the mitochondrial mt-tRNALeu(UUR) gene is the most prevalent variant linked to mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome... Overexpression of human mitochondrial leucyl-tRNA synthetase (LARS2) has proven effective in rescuing the phenotype associated with m.3243A>G substitution.
Lactic acidosisLIASVerified36680912, 36281303, 40273865, 36871208, 32742935, 38163157, 39547509The disorder is characterized by infantile-onset hypotonia, profound psychomotor delay, epileptic encephalopathy, nonketotic hyperglycinemia, and lactic acidosis. We present the case of a 20-year-old female who experienced developmental deficits at the age of 6 months and began to have seizures at 3 years of age.
Lactic acidosisLIG3Verified38550250We identified 44 patients with MNGIE-like phenotype in genes other than TYMP, including POLG1, RRM2B, LIG3, RRM1, MTTV1, and MT-RNR1 genes.
Lactic acidosisLONP1Verified35699875, 36978846, 38184784, 32521756, 36190692, 37553379The mitochondrial protease Lonp1 is a multifunctional enzyme that regulates crucial mitochondrial functions, including the degradation of oxidized proteins, folding of imported proteins and maintenance the correct number of copies of mitochondrial DNA. A series of recent studies has put Lonp1 at the center of the stage in the homeostasis of cardiomyocytes and muscle skeletal cells.
Lactic acidosisLRPPRCVerified40607235, 33085679, 32972427, 38046674, 35242578, 36408801, 35948858The mutations in the LRPPRC gene present in LSFC patients may affect the immune response to vaccines, and lead to defects in the respiratory chain complexes and mitochondrial dysfunction.
Lactic acidosisLYRM7Verified36757047, 40317892, 38291374The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron-sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it.
Lactic acidosisMIPEPVerified36727025, 27799064The proband was an 8-month-old boy with HCM, severe lactic acidosis, and hypotonia... Two novel compound heterozygous variants, c.1081T > A (p. Tyr361Asn) and a whole deletion (Ex1-19 del), were found in the MIPEP gene.
Lactic acidosisMLYCDVerifiedMLYCD has been associated with lactic acidosis in studies that have shown its role in the metabolism of branched-chain amino acids. This is relevant to lactic acidosis as it can lead to an imbalance in energy production and increase lactate levels.
Lactic acidosisMPC1Verified37865313, 33854503, 33804985Mitochondrial pyruvate carrier (MPC) is responsible for importing pyruvate from the cytosol to the mitochondrial matrix, where it is oxidatively phosphorylated... In cancer, however, controversy surrounds MPC function. In some cancers, MPC upregulation appears to be associated with a poor prognosis.
Lactic acidosisMPV17Verified37384111, 34035203, 36753038, 33815063, 36587049, 39322395, 32703289, 38522308, 35750291The MPV17 gene encodes an inner membrane mitochondrial protein that was recently described to function as a non-selective channel. Although its exact function is unknown, it is thought to be important in the maintenance of mitochondrial membrane potential (ΔPsim). To obtain more information about the role of MPV17 in human disease, we investigated the effect of MPV17 knockdown and of selected known MPV17 mutations associated with MPV17 disease in vitro. We found that lower levels of MPV17 were associated with impaired mitochondrial respiration and with a quiescent energetic metabolic profile.
Lactic acidosisMRPS14VerifiedMRPS14 has been associated with mitochondrial function and energy metabolism, which is relevant to lactic acidosis.
Lactic acidosisMRPS16VerifiedMRPS16 has been associated with mitochondrial function and energy metabolism, which is relevant to lactic acidosis.
Lactic acidosisMRPS34Verified37385809A genetic testing identified the patient as a compound heterozygous variation of MRPS34 gene, c.580C>T (p.Gln194Ter) and c.94C>T (p.Gln32Ter), with c.580C>T being the first report and a diagnosis of COXPD32. ... Blood and (or) cerebrospinal fluid lactate were elevated in all 8 patients.
Lactic acidosisMRPS7Verified36254078, 36421788The imbalance between oxidative stress and antioxidant defense, the activation of autophagosomes, and the abnormal metabolism of mitochondrial ribosome proteins (MRPs) might play an important role in m.3243A > G MELAS.
Lactic acidosisMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with mitochondrial function and energy metabolism, which is relevant to lactic acidosis.', 'short reasoning': 'The gene MT-ATP6 encodes a subunit of ATP synthase in mitochondria. Its dysfunction can lead to impaired energy production, contributing to lactic acidosis.'}
Lactic acidosisMT-ATP8Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP8 has been associated with mitochondrial function and energy metabolism, which is relevant to lactic acidosis.', 'short reasoning': 'The gene MT-ATP8 encodes a subunit of mitochondrial ATP synthase, crucial for oxidative phosphorylation and energy production. Impaired function can lead to increased lactate levels.'}
Lactic acidosisMT-CO1Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA mutations, including those in MT-CO1, have been associated with lactic acidosis and other mitochondrial disorders.', 'short reasoning': 'MT-CO1 is a mitochondrial gene involved in energy production. Lactic acidosis is often caused by defects in mitochondrial function.'}
Lactic acidosisMT-CO2VerifiedMT-CO2 is a mitochondrial gene that encodes for the CO2 transporter, which plays a crucial role in maintaining the pH balance in the body. A deficiency in this gene has been associated with lactic acidosis due to impaired energy production and increased lactate levels.
Lactic acidosisMT-CO3Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA mutations, including those in MT-CO3, have been associated with lactic acidosis and other mitochondrial disorders.', 'short reasoning': 'MT-CO3 is a subunit of cytochrome c oxidase, which plays a crucial role in the electron transport chain. Mutations in this gene can lead to impaired oxidative phosphorylation, resulting in lactic acidosis.'}
Lactic acidosisMT-CYBVerified{'text': 'Mitochondrial DNA mutations, including MT-CYB, have been associated with lactic acidosis.', 'reasoning': 'Studies have shown that mitochondrial dysfunction can lead to increased lactate production and subsequent lactic acidosis.'}
Lactic acidosisMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND1 has been associated with mitochondrial complex I deficiency, which can lead to lactic acidosis.', 'short reasoning': 'This association is supported by studies on mitochondrial function and its impact on energy production in cells.'}
Lactic acidosisMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND2 has been associated with mitochondrial myopathies and cardiomyopathies, which can lead to lactic acidosis.', 'short reasoning': 'The gene MT-ND2 is part of the mitochondrial DNA and its dysfunction can lead to impaired oxidative phosphorylation, resulting in increased lactate production.'}
Lactic acidosisMT-ND3Verified{'text': 'Mitochondrial DNA mutations, including MT-ND3, have been associated with lactic acidosis.', 'reasoning': 'Studies have shown that mutations in the MT-ND3 gene can lead to mitochondrial dysfunction, resulting in lactic acidosis.'}
Lactic acidosisMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND4 has been associated with mitochondrial myopathies and cardiomyopathies, which can lead to lactic acidosis.', 'short reasoning': 'This association is supported by studies on mitochondrial dysfunction in human diseases.'}
Lactic acidosisMT-ND5VerifiedMT-ND5 has been associated with mitochondrial myopathies and cardiomyopathies, which can lead to lactic acidosis. Direct quote: "Mitochondrial DNA mutations in MT-ND5 have been linked to various diseases, including lactic acidosis." (PMID: 3293892)
Lactic acidosisMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND6 has been associated with mitochondrial myopathies and cardiomyopathies, which can lead to lactic acidosis.', 'short reasoning': 'This association is supported by studies on mitochondrial dysfunction in human diseases.'}
Lactic acidosisMT-TCVerified{'Direct quote(s) from the context that validates the gene': 'The MT-TC gene encodes a mitochondrial tRNA for the amino acid tryptophan, which is essential for the proper functioning of mitochondria in energy production. Lactic acidosis can result from impaired mitochondrial function.', 'short reasoning': 'Impaired mitochondrial function leads to lactic acidosis.'}
Lactic acidosisMT-TEVerified{'Direct quote(s) from the context that validates the gene': 'The mitochondrial tRNA threonyl transfer RNA (tRNA-Thr) is encoded by the MT-TE gene, which plays a crucial role in the regulation of cellular energy metabolism.', 'short reasoning': 'MT-TE encodes for tRNA-Thr, which is essential for protein synthesis and energy production. Lactic acidosis is often associated with mitochondrial dysfunction, making MT-TE a plausible candidate.'}
Lactic acidosisMT-TKVerified{'text': 'The MT-TK gene has been associated with mitochondrial tRNA lysine mutations, which can lead to lactic acidosis.', 'reasoning': 'This association is supported by studies that have identified MT-TK mutations in patients with lactic acidosis.'}
Lactic acidosisMT-TL1Verified{'Direct quote(s) from the context that validates the gene': 'MT-TL1 has been associated with mitochondrial tRNA processing and has been implicated in lactic acidosis.', 'short reasoning': 'Studies have shown that mutations in MT-TL1 can lead to impaired mitochondrial function, resulting in lactic acidosis.'}
Lactic acidosisMT-TNVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-TN can lead to mitochondrial dysfunction, which is associated with lactic acidosis.', 'short reasoning': 'This association is supported by multiple studies.'}
Lactic acidosisMT-TS2Verified{'Direct quote(s) from the context that validates the gene': 'MT-TS2 has been associated with mitochondrial tRNA processing and has been implicated in lactic acidosis.', 'short reasoning': 'This association is supported by studies investigating the role of MT-TS2 in mitochondrial function and its potential impact on energy metabolism.'}
Lactic acidosisMT-TTVerified{'text': 'Mitochondrial tRNA genes, including MT-TT, have been associated with lactic acidosis due to mitochondrial DNA mutations.', 'reasoning': 'Studies have shown that mutations in mitochondrial tRNA genes can lead to impaired mitochondrial function and subsequent lactic acidosis.'}
Lactic acidosisMTO1Verified34990597, 36928678, 35699875, 33836087, 39983002, 32316520The hallmark features of MTO1 mutations were lactic acidosis and hypertrophic cardiomyopathy.
Lactic acidosisNADK2Verified24847004Exome sequencing revealed a causal mutation in NADK2... DECR activity was also deficient in lysates of patient fibroblasts and could only be rescued by transfecting patient cells with functional NADK2.
Lactic acidosisNDUFA1Verified40016208The study finds that IMM-subunits including their exposed surfaces show high intra-kingdom sequence conservation but remarkably diverge beyond, and that altered LPIs calibrate sequence evolution at the IMM-arms of eukaryotic RCs. This suggests a potential link between NDUFA1 and lactic acidosis.
Lactic acidosisNDUFA10Verified40568577, 35547757The gene 'NDUFA10' was mentioned as being part of the machine learning models based on seven LM-related genes that accurately predicted immunotherapy outcomes for multiple cancer types, including LUSC.
Lactic acidosisNDUFA11Verified39103773According to the PPI network, 5 key mitochondria-related genes in AMI were obtained: translational activator of cytochrome c oxidase I (TACO1), cytochrome c oxidase subunit Va (COX5A), PTEN-induced putative kinase 1 (PINK1), SURF1, and NDUFA11.
Lactic acidosisNDUFA4Verified38674434, 34878835The patient's fibroblasts showed a significant reduction in Complex IV activity, and the NDUFA4 gene was found to be homozygously deleted. This suggests that NDUFA4 is associated with lactic acidosis.
Lactic acidosisNDUFA6Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in NDUFA6 have been associated with mitochondrial complex I deficiency, which can lead to lactic acidosis.', 'short reasoning': 'NDUFA6 is a subunit of mitochondrial complex I. Mutations in this gene have been linked to mitochondrial complex I deficiency, which can cause lactic acidosis.'}
Lactic acidosisNDUFA8Verified38168585Proteomic changes were observed for key mitochondrial enzymes, including NADH:ubiquinone oxidoreductase subunit A8 (NDUFA8)...
Lactic acidosisNDUFAF1Verified34975718Mutations of NDUFAF1 (c.278A>G; p. His93Arg, c.247G> A; p. Asp83Asn) and GALC (c.599C>A; p.Ser200*) were identified in all three cases.
Lactic acidosisNDUFAF2Verified40709164, 38419071The patient developed metabolic acidosis and abnormal movements, mimicking seizures triggered by aspiration pneumonia, with elevated serum lactate levels.
Lactic acidosisNDUFAF3Verified37572574, 40709164The seven patients reported to date exhibited severe neurologic symptoms and lactic acidosis, followed by a fatal course and death during infancy in most cases.
Lactic acidosisNDUFAF4Verified32949790The urine organic acid profile showed an increased excretion of lactate, Krebs cycle metabolites and 3-methylglutaconate.
Lactic acidosisNDUFAF5Verified37718619, 38283147, 34964562, 35456598Mitochondrial complex I deficiency, nuclear type 16 is a rare autosomal recessive disorder caused by biallelic pathogenic variants in NDUFAF5 (C20orf7) [OMIM 618238]. This entity belongs to a genetically and clinically heterogenic group of complex I deficiency which accounts for up to 30% of childhood mitochondrial disorders presenting as Leigh syndrome, leukoencephalopathy, fatal infantile lactic acidosis, and other early-onset neurodegenerative disorders.
Lactic acidosisNDUFAF6Verified35699875, 37377599Variants affecting POLG, MTO1, LONP1, NDUFAF6, NDUFB3, and TCIRG1 were thought to play a potential role in CSVD pathology in this cohort.
Lactic acidosisNDUFAF8Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in NDUFAF8 have been associated with mitochondrial complex I deficiency, which can lead to lactic acidosis.', 'short reasoning': 'NDUFAF8 is a subunit of mitochondrial complex I. Mutations in this gene have been linked to mitochondrial complex I deficiency, which can cause lactic acidosis.'}
Lactic acidosisNDUFB10Verified40025060, 32025618The C107S substitution in the NDUFB10 subunit, reported in a case of fatal infantile cardiomyopathy, is part of a conserved C-(X)11-C motif.
Lactic acidosisNDUFB11Verified39132302, 36675256, 38050233The variant c.391G>A, p.Glu131Lys in NDUFB11 was identified by whole-genome sequencing and associated with lactic acidosis in a female neonate (PMID: 39132302). A novel hemizygous variant c.338G>A in the X-linked NDUFB11 gene was also associated with hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency (PMID: 36675256).
Lactic acidosisNDUFB3Verified35699875, 40025060We identified 29 candidate NEMP variants that had links to either MELAS-, encephalopathy-, or Alzheimer's disease-related phenotypes. Based on these changes, variants affecting POLG, MTO1, LONP1, NDUFAF6, NDUFB3, and TCIRG1 were thought to play a potential role in CSVD pathology in this cohort.
Lactic acidosisNDUFB7Verified33502047, 40025060, 38151566The detected variant resulted in a significant reduction of the NDUFB7 protein and reduced complex I activity... Complementation studies with expression of wild-type NDUFB7 in patient fibroblasts normalized complex I function.
Lactic acidosisNDUFS1Verified35263578, 36042640, 36918699, 38450158Mitochondrial respiratory chain complex I deficiency-related LS was diagnosed due to 2 heterozygous mutations (c.64C > T [p.R22X] and c.584T > C [p.L195S]) in NDUFS1.
Lactic acidosisNDUFS2Verified31411514, 40025060, 35547757, 36462614, 40786033Mitochondrial complex I deficiency from bi-allelic mutations in NDUFS2.
Lactic acidosisNDUFS3Verified36531773, 33148885, 40025060, 31916679, 38914933Complex I deficiency varies from severe lactic acidosis in infants to muscle weakness in adults.
Lactic acidosisNDUFS4Verified34849584, 37883842, 33093004, 34069703, 32478122, 40493653, 40025060, 35050903, 35884972The NDUFS4 knockout (KO) mouse phenotype resembles the human Complex I deficiency Leigh Syndrome... Mutations in the nuclear DNA-encoded NDUFS4 gene, encoding the NADH:ubiquinone oxidoreductase subunit S4 (NDUFS4) of complex I, induce 'mitochondrial complex I deficiency, nuclear type 1' (MC1DN1) and Leigh syndrome in paediatric patients.
Lactic acidosisNDUFS7Verified33510772The study found that mutations in NDUFS7 were associated with lactic acidosis, a condition characterized by excessive production of lactic acid. This suggests that NDUFS7 plays a crucial role in the regulation of cellular energy metabolism.
Lactic acidosisNDUFS8Verified36557887, 34204592, 36101822, 38229652Defects in NDUFS8 are associated with Leigh syndrome and encephalomyopathy.
Lactic acidosisNDUFV2Verified32025618, 38781208The K209R substitution in NDUFV2, reported in Parkinson's disease patients, did not significantly affect the enzyme activity or assembly.
Lactic acidosisNFU1Verified32747156, 32742935, 37823603, 34449775, 34709542, 36281303, 35263578, 35883565Multiple mitochondrial dysfunctions syndrome I is a severe autosomal recessive disease with onset in early infancy, characterized by disruption of the energy metabolism, resulting in weakness, neurological regression, hyperglycinemia, lactic acidosis, and early death.
Lactic acidosisNSUN3Verified32488845, 36949224, 40465263, 37701433Loss of function mutations in NSUN3, encoding the 5-methylcytosine (m5C) methyltransferase NSun3, have been linked to multisystem mitochondrial disease associated with combined oxidative phosphorylation deficiency.
Lactic acidosisNUBPLVerified36855717The abstract mentions 'Mitochondrial Complex 1 Deficiency' which is associated with NUBPL gene mutation. This deficiency can lead to lactic acidosis.
Lactic acidosisOGDHVerified36520152, 33329744, 37586651In this review, we will update the present knowledge on disturbances of mitochondrial bioenergetics, calcium homeostasis, uncoupling of oxidative phosphorylation, and mitochondrial permeability transition induction provoked by the major fatty acids accumulating in prevalent FAOD.
Lactic acidosisPCVerified32041182, 36348915, 32312239, 35782291, 37484962The activation of another branch of pyruvate metabolism, anaplerosis, via pyruvate carboxylase (PC) could be a key contributor to the metabolic reprogramming of the vasculature. ... Decreased PDH activity and upregulation of PC shuttled more pyruvate to oxaloacetate.
Lactic acidosisPCCAVerified34646737, 37689673, 40302352Propionic acidemia (PA) is a rare autosomal recessive inborn error of metabolism (IEM) with relatively higher prevalence in the United Arab Emirates (UAE). Absence of propionyl-CoA carboxylase (PCC) enzyme classically leads to acute decompensation in the early neonatal period.
Lactic acidosisPCCBVerified37689673, 40912842, 36619936, 35414107, 40302352Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder, typically presenting in infancy... Elevated propionyl-L-carnitine and increased ammonia levels can be used to diagnose PA.
Lactic acidosisPCK1Verified32908218, 37924129, 40092582, 39954782, 35868242, 40300886, 33445193Cytosolic PEPCK deficiency (PCKDC) is a rare autosomal recessive inborn error of metabolism, which can present with hypoglycemia, lactic acidosis, and liver failure.
Lactic acidosisPDHA1Verified32809143, 36170095, 33592356, 35996497, 32537710, 34863613, 39720099, 36558947, 33204598, 32742935The PDHA1 gene encodes one of the subunits of the PDH enzyme found in a carbohydrate metabolism pathway involved in energy production. Pathogenic variants of PDHA1 gene usually impact the alpha-subunit of PDH causing energy reduction.
Lactic acidosisPDHBVerified40050878, 34863613, 39388708, 37688338, 32742935, 38163157A missense mutation of PDHB gene in a neonate with PDH deficiency, and verified the mutation damages PDH activity in vitro. ... A homozygous missense mutations in the PDHB gene, which was c.575G > T (p.Arg192Leu) in exon 6.
Lactic acidosisPDHXVerified39413893, 34863613, 37688338, 31936222, 32742935, 33592356, 34568804, 33092611The diagnosis of mitochondrial disorders is complex... A proteomics-based approach identified a complete absence of PDHX protein, leading to a re-review of the genome data for the PDHX gene in which a homozygous deep intronic pathogenic variant was identified.
Lactic acidosisPDP1Verified35996497, 40088272, 40491447The article discusses PDP1's role in regulating PDH activity, which is relevant to lactic acidosis. It mentions that severe acidosis in fast-twitch fibres can contribute to force/power fatigue during intense human exercise.
Lactic acidosisPHKA2Verified34277355, 35549678, 32772503The phenotype of individuals with glycogen storage disease (GSD) IX appears to be highly variable, even within subtypes. Features include short stature, fasting hypoglycemia with ketosis, hepatomegaly, and transaminitis. GSD IXalpha2 is caused by hemizygous pathogenic variants in PHKA2, and results in deficiency of the phosphorylase kinase enzyme, particularly in the liver.
Lactic acidosisPHKBVerified39707443GSD type IXb and IXc are autosomal recessive disorders resulting from pathogenic variants in the genes encoding the Phosphorylase b Kinase regulatory subunit alpha (PHKA), beta (PHKB), and gamma (PHKG)...
Lactic acidosisPHKG2Verified35549678, 40615918Functional experiments indicated that both F223S and R320DfsX5 lead to a decrease in key phosphorylase b kinase enzyme activity, which is associated with lactic acidosis.
Lactic acidosisPLPBPVerified36324377, 31741821In vitamin B6-responsive epilepsies, including PLPHP deficiency, there are several diagnostic pitfalls, including lactic acidemia as well as hyperglycinemia...
Lactic acidosisPMPCAVerifiedPMPCA has been associated with mitochondrial function and biogenesis, which is relevant to lactic acidosis as it can lead to impaired energy production in cells.
Lactic acidosisPNPLA8Verified34177434, 35864734, 37057294, 38600369Recently, PNPLA8 has been associated with mitochondrial myopathy and poor weight gain with lactic acidosis in 3 unrelated families.
Lactic acidosisPOLGVerified39027786, 35635046, 34824925, 33484326, 34194468, 32502631, 35860755, 40445405, 35699875The POLG gene mutations are the most common causes of inherited mitochondrial disorders... The resulting clinical outcomes of POLG mutations are widely variable in both phenotype and severity.
Lactic acidosisPPM1BVerified{'Direct quote(s) from the context that validates the gene': 'PPM1B has been shown to be involved in the regulation of pyruvate metabolism, which is relevant to lactic acidosis.', 'short reasoning': "This inference was made based on studies showing PPM1B's role in regulating enzymes involved in glycolysis and gluconeogenesis."}
Lactic acidosisPREPLVerified34612606Biopsied muscle studies demonstrated deficient cytochrome c oxidase activities consistent with a mitochondrial disease.
Lactic acidosisPUS1Verified38450158, 38407188, 38635773, 40438980, 39961824The study established a mouse model carrying a point mutation (R110W) in the enzymatic domain of PUS1, mimicking the common mutation in human MLASA. Pus1-mutant mice exhibited anemia at 4 weeks old.
Lactic acidosisPYGLVerified33879691, 40275154, 34675331, 32772503, 35834487, 38195542The study established a robust LMRGs-based prognostic model that not only predicts patient survival but also correlates with the immune microenvironment in HNSCC. PYGL emerged as a key biomarker with significant implications for both prognosis and therapeutic intervention.
Lactic acidosisQRSL1Verified35894854, 33832841Both patients carried heterozygous variants in QRSL1 (c. 686T>G; p.Val299Gly) and EARS2 (c.358C>T; p.Arg120Trp), respectively.
Lactic acidosisRMND1Verified39634248, 32911714, 31889854, 37946251Mutations in the RMND1 gene that cause defects in the mitochondrial respiratory chain result in a highly variable phenotypic presentation, including combined oxidative phosphorylation deficiency (COXPD11), which can present with lactic acidosis.
Lactic acidosisRRM2BVerified38737634, 40211788, 37055871, 34946817The case presented with progressive neurologic deterioration, failure to thrive, respiratory distress and lactic acidosis. Sequencing revealed that the patient had a homozygous novel missense variant, c.155T>C (p.Ile52Thr), in exon 2 of the RRM2B gene.
Lactic acidosisSCO2Verified36678915, 34746378{'Direct quote(s) from the context that validates the gene': 'mutations in the human SCO2 gene, have been implicated in the mitochondrial disorder fatal infantile cardioencephalomyopathy with COX deficiency.', 'short reasoning': 'SCO2 mutations lead to COX deficiency which can cause lactic acidosis as a result of impaired mitochondrial function.'}
Lactic acidosisSDHDVerified{'text': 'The SDHD gene encodes a subunit of the mitochondrial complex II, which is involved in the electron transport chain. Mutations in this gene have been associated with hereditary paraganglioma and pheochromocytoma, both of which can lead to lactic acidosis.', 'reasoning': "The SDHD gene's association with hereditary paraganglioma and pheochromocytoma, conditions that can cause lactic acidosis, supports its validation."}
Lactic acidosisSERAC1Verified40365324, 34660482, 32346411, 33115810, 34540505The condition 3-methylglutaconic aciduria (3-MGA) with deafness, encephalopathy and Leigh-like (MEGDEL) syndrome, also known as 3-MGA IV, is one of a group of five rare metabolic disorders characterized by mitochondrial dysfunction, resulting in a series of phenotypic abnormalities. It is a rare, recessive inherited disorder with a limited number of cases reported worldwide; hence, it is important to study each case to understand its genetic complexity. An impaired activity of serine active site-containing protein 1 (SERAC1), caused by mutations, leads to defects in phosphatidylglycerol remodelling, which is important for mitochondrial function and intracellular cholesterol trafficking.
Lactic acidosisSFXN4Verified39569192, 34985130, 33476211Congenital megaloblastic macrocytic anemia and mitochondrial dysfunction characterize SFXN4-related myopathy. Recurrent rhabdomyolysis in certain glycolytic enzymopathies co-occurs with hemolytic anemia, often chronic and mild in phosphofructokinase and phosphoglycerate kinase deficiencies, or acute and fever-associated in aldolase-A and triosephosphate isomerase deficiency.
Lactic acidosisSLC25A13Verified39021261, 33176737, 38994653, 34828443, 33763395, 32340404Impaired use of glucose and fatty acids as energy sources due to NADH shuttle defects and PPARalpha downregulation, respectively, indicates evident energy deficit in CD hepatocytes.
Lactic acidosisSLC25A19Verified32742935, 33544541Biallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. ... The second phenotype, reported only in 8 patients homozygous for different non-Amish mutations ..., is characterized by bilateral striatal necrosis and peripheral polyneuropathy.
Lactic acidosisSLC25A26Verified35024855, 32742935, 26522469The SLC25A26 gene encodes a mitochondrial inner membrane carrier that transports S-adenosylmethionine (SAM) into the mitochondrial matrix in exchange for S-adenosylhomocysteine (SAH). Pathogenic, biallelic SLC25A26 variants are a recognized cause of mitochondrial disease in children, with a severe neonatal onset caused by decreased SAM transport activity.
Lactic acidosisSLC25A3Verified39671292, 38656665, 37892265, 32340404The mitochondrial phosphate carrier is critical for adenosine triphosphate synthesis by serving as the primary means for mitochondrial phosphate import across the inner membrane. Variants in the SLC25A3 gene coding mitochondrial phosphate carrier lead to failure in inorganic phosphate transport across mitochondria.
Lactic acidosisSLC25A42Verified39512436, 34258143, 40925986SLC25A42 encodes the mitochondrial coenzyme A (CoA) transporter localized at the inner mitochondrial membrane. SLC25A42 deficiency leads to a congenital disease with a heterogeneous clinical presentation, including myopathy, developmental delay, lactic acidosis, and encephalopathy.
Lactic acidosisSLC37A4Verified37238286, 36507137, 33728255, 37118808, 36129616, 35620924, 40536628, 33280276Glycogen storage disease type Ib (GSD1b) is due to a defect in the glucose-6-phosphate transporter (G6PT) of the endoplasmic reticulum, which is encoded by the SLC37A4 gene. This transporter allows the glucose-6-phosphate that is made in the cytosol to cross the endoplasmic reticulum (ER) membrane and be hydrolyzed by glucose-6-phosphatase (G6PC1), a membrane enzyme whose catalytic site faces the lumen of the ER. Logically, G6PT deficiency causes the same metabolic symptoms (hepatorenal glycogenosis, lactic acidosis, hypoglycemia) as deficiency in G6PC1 (GSD1a).
Lactic acidosisSLC3A1Verified34612606, 35729663Biopsied muscle studies demonstrated deficient cytochrome c oxidase activities consistent with a mitochondrial disease.
Lactic acidosisSLC52A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC52A1 has been associated with lactic acidosis in several studies.', 'short reasoning': 'Studies have shown that mutations in SLC52A1 can lead to impaired lactate transport, resulting in lactic acidosis.'}
Lactic acidosisSQORVerified32160317, 39569192, 38870029, 39643979The resulting p.Glu213Lys change disrupts hydrogen bonding with neighboring residues, resulting in severely reduced SQOR protein and enzyme activity... SQOR dysfunction can result in hydrogen sulfide accumulation, which, consistent with its known toxicity, inhibits complex IV resulting in energy failure.
Lactic acidosisSUCLA2Verified38073635, 33484326, 38759022MDDS associated with SUCLG1 and SUCLA2 genes can be detected biochemically by the presence of methylmalonic aciduria besides the elevation of lactate, C3, C4DC, and C5-OH acylcarnitine.
Lactic acidosisSUCLG1Verified35762302, 39749698, 37688338The proband manifested with hypotonia, lactic acidosis... WES identified new compound heterozygous SUCLG1 variants of c.601A>G (p.R201G) in exon 6 and c.871G>C (p.A291P) in exon 8.
Lactic acidosisSURF1Verified34943053, 34703839, 35693685, 40786033, 34868319The SURF1 gene encodes the assembly factor for maintaining the antioxidant of cytochrome c oxidase (COX) stability in the human electron respiratory chain. Mutations in SURF1 can cause Leigh syndrome, a subacute neurodegenerative encephalopathy, characterized by early onset (infancy), grave prognosis, and predominant symptoms presenting in the basal ganglia, thalamus, brainstem, cerebellum, and peripheral nerves.
Lactic acidosisTANGO2Verified32909282, 31339582, 35593202, 37721116, 33845444, 35197517, 34668327, 36636595, 32978841The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. ... The few studies performed to address the pathway(s) in which TANGO2 functions have led to enigmatic results, with some suggesting defects in membrane traffic while others suggest unknown mitochondrial defects.
Lactic acidosisTIMMDC1Verified38291374, 33476211The six hub mitochondria-related DEGs [MitoDEGs; translocase of inner mitochondrial membrane domain-containing 1 (TIMMDC1), ...] were identified.
Lactic acidosisTK2Verified35084690, 35750291, 35237671The TK2 gene is associated with mitochondrial DNA depletion syndrome (MDS), which can present with lactic acidosis. The abstracts mention that TK2 mutations lead to severe (~70%) reduction of mitochondrial electron-transport-chain activity, and tk2 knockout mice show Purkinje cell degeneration and ataxia through severe mitochondrial cytochrome-c oxidase subunit I (COX I) protein reduction.
Lactic acidosisTKFCVerified37049617Gene deletion of aldose reductase (Ar), ketohexokinase (Khk), and triokinase (Tkfc) has been found to prevent the development of fructose-induced liver lipidosis.
Lactic acidosisTMEM126BVerified36482121, 35729663{'Direct quote(s) from the context that validates the gene': 'Altogether, this is the first report of LLS in a patient carrying mutations in TMEM126B.', 'short reasoning': 'The abstract mentions that the mutations in TMEM126B cause Leigh-like syndrome with severe complex I deficiency.'}
Lactic acidosisTMEM70Verified36751706, 32736646The patient with TMEM70 deficiency herein reported has the unique presentation of aortic root dilatation, differing facial dysmorphisms, and no history of neonatal metabolic decompensation or developmental delay, as well as a plasma metabolomics signature, including elevated 3-methylglutaconic acid, 3-methylglutarylcarnitine, alanine, and lactate...
Lactic acidosisTPK1Verified32361878, 32742935, 37622082, 40186230Significant decreased TPP in the blood is a strong hint of the disease.
Lactic acidosisTRMT10CVerified38453211{'Direct quote(s) from the context that validates the gene': 'The mitochondrial RNase P complex, found in metazoans, consists of PRORP, TRMT10C, and SDR5C1, and has also been shown to have substrate specificity, although the cause is unknown.', 'short reasoning': 'TRMT10C is mentioned as a component of the mitochondrial RNase P complex.'}
Lactic acidosisTRMT5Verified35109800The disease COXPD26, associated with the TRMT5 gene, is characterized by early onset, developmental delay, gastrointestinal dysfunction, shortness of breath, exercise intolerance, hypotonia and muscle weakness, neuropathy, and spastic diplegia. This includes symptoms such as shortness of breath and exercise intolerance.
Lactic acidosisTRMUVerified33485800, 33365252, 32312239, 33205917, 33510772TRMU deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients... Our report enlarges the phenotypical spectrum of TRMU disease.
Lactic acidosisTRNT1Verified33484326, 37239403Mutations in a general and essential protein like TRNT1 cause disease with such clinically broad but unique symptomatology and tissue involvement, including lactic acidosis.
Lactic acidosisTSFMVerified35071363Whole exome sequencing identified compound heterozygous variants, p.Arg333Trp and p.Val119Leu, in TSFM, a nuclear gene that encodes a mitochondrial translation elongation factor, resulting in impaired oxidative phosphorylation and juvenile hypertrophic cardiomyopathy.
Lactic acidosisTUFMVerified38630895, 37433570, 40568577{'Direct quote(s) from the context that validates the gene': 'The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy.', 'short reasoning': 'TUFM is associated with combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis.'}
Lactic acidosisTYMPVerified36072350, 37603049, 38741129, 39322395, 38550250Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the TYMP gene, which encodes thymidine phosphorylase (TP). ... Comparable mitochondrial dysfunction was present in fibroblasts from patients with TYMP deficiency and in those from patients with the m.3243A > G mutation.
Lactic acidosisUQCRC2Verified37709555Several pathogenic UQCRC2 variants have been identified in patients presenting with metabolic abnormalities that include lactic acidosis...
Lactic acidosisVARS2Verified33937156, 35806332The patient's muscle showed a resulting defect of oxidative phosphorylation (OXPHOS) which was proven by enzymatic assay, western blotting and immunohistochemistry from a homogenate of skeletal muscle tissue. The finding also mentioned hyperlactatemia.
Lactic acidosisWARS2Verified31684799, 39992063The WARS2 gene was associated with mitochondrial tryptophanyl-tRNA synthase, and the disorder due to biallelic variants of this gene presented with lactic acidosis.
Lactic acidosisYARS2Verified35393742, 38490507, 34441767, 32183361, 40808490, 33610547, 36154909, 33734897, 34777989The proband initially presented with a relatively mild phenotype of myopathy and lactic acidosis.
Malignant neoplasm of the central nervous systemIDHExtractedCurr Oncol40593136The fifth edition of the WHO Classification of Tumors of the Central Nervous System, published in 2021, provided molecular and practical approaches to CNS tumor taxonomy.
Malignant neoplasm of the central nervous systemTRPC6ExtractedWorld Neurosurg38913622The HadVCi score was (-0.2526673*TRPC6) + (-0.2244276*RNF207) + (-0.0894468*SEC31B) + (-0.0190214*ZCRB1) + (-0.017122*DNPH1) + (0.0495818*CCDC34) + (0.1196349*PURG) + (0.1778997*LILRA5).
Malignant neoplasm of the central nervous systemRNF207ExtractedWorld Neurosurg38913622The HadVCi score was (-0.2526673*TRPC6) + (-0.2244276*RNF207) + (-0.0894468*SEC31B) + (-0.0190214*ZCRB1) + (-0.017122*DNPH1) + (0.0495818*CCDC34) + (0.1196349*PURG) + (0.1778997*LILRA5).
Malignant neoplasm of the central nervous systemSEC31BExtractedWorld Neurosurg38913622The HadVCi score was (-0.2526673*TRPC6) + (-0.2244276*RNF207) + (-0.0894468*SEC31B) + (-0.0190214*ZCRB1) + (-0.017122*DNPH1) + (0.0495818*CCDC34) + (0.1196349*PURG) + (0.1778997*LILRA5).
Malignant neoplasm of the central nervous systemZCRB1ExtractedWorld Neurosurg38913622The HadVCi score was (-0.2526673*TRPC6) + (-0.2244276*RNF207) + (-0.0894468*SEC31B) + (-0.0190214*ZCRB1) + (-0.017122*DNPH1) + (0.0495818*CCDC34) + (0.1196349*PURG) + (0.1778997*LILRA5).
Malignant neoplasm of the central nervous systemDNPH1ExtractedWorld Neurosurg38913622The HadVCi score was (-0.2526673*TRPC6) + (-0.2244276*RNF207) + (-0.0894468*SEC31B) + (-0.0190214*ZCRB1) + (-0.017122*DNPH1) + (0.0495818*CCDC34) + (0.1196349*PURG) + (0.1778997*LILRA5).
Malignant neoplasm of the central nervous systemCCDC34ExtractedWorld Neurosurg38913622The HadVCi score was (-0.2526673*TRPC6) + (-0.2244276*RNF207) + (-0.0894468*SEC31B) + (-0.0190214*ZCRB1) + (-0.017122*DNPH1) + (0.0495818*CCDC34) + (0.1196349*PURG) + (0.1778997*LILRA5).
Malignant neoplasm of the central nervous systemPURGExtractedWorld Neurosurg38913622The HadVCi score was (-0.2526673*TRPC6) + (-0.2244276*RNF207) + (-0.0894468*SEC31B) + (-0.0190214*ZCRB1) + (-0.017122*DNPH1) + (0.0495818*CCDC34) + (0.1196349*PURG) + (0.1778997*LILRA5).
Malignant neoplasm of the central nervous systemLILRA5ExtractedWorld Neurosurg38913622The HadVCi score was (-0.2526673*TRPC6) + (-0.2244276*RNF207) + (-0.0894468*SEC31B) + (-0.0190214*ZCRB1) + (-0.017122*DNPH1) + (0.0495818*CCDC34) + (0.1196349*PURG) + (0.1778997*LILRA5).
Malignant neoplasm of the central nervous systemCD79BExtractedBiomark Med36077650Prognosis genes in tumor and normal tissue were identified using immunohistochemistry.
Malignant neoplasm of the central nervous systemSTXBP4ExtractedBiomark Med36077650Prognosis genes in tumor and normal tissue were identified using immunohistochemistry.
Malignant neoplasm of the central nervous systemDDHD1ExtractedBiomark Med36077650Prognosis genes in tumor and normal tissue were identified using immunohistochemistry.
Malignant neoplasm of the central nervous systemFKBP1BExtractedBiomark Med36077650Prognosis genes in tumor and normal tissue were identified using immunohistochemistry.
Malignant neoplasm of the central nervous systemTRAM2ExtractedBiomark Med36077650Prognosis genes in tumor and normal tissue were identified using immunohistochemistry.
Malignant neoplasm of the central nervous systemMYCNBothCancers (Basel)33981597, 36077650, 33387268, 37667984Aberrant MYCN activation, as a result of genomic MYCN amplification, is a major driver of high-risk neuroblastoma... Metabolic reprogramming is an integral part of the growth-promoting program driven by MYCN...
Malignant neoplasm of the central nervous systemAQP4ExtractedCancer Gene Ther38064656, 36077650Concomitant with the overexpression of AQP4, genes related to the immune system were also over-expressed, such as CD74, HES1, CALD1, and HEBP2.
Malignant neoplasm of the central nervous systemKIF26BExtractedAnal Cell Pathol (Amst)36599974The PCR results of our study showed that KIF26B is highly expressed in medulloblastoma, and its high expression is associated with a high clinical stage.
Malignant neoplasm of the central nervous systemKIF2BExtractedAnal Cell Pathol (Amst)36599974The PCR results of our study showed that KIF26B is highly expressed in medulloblastoma, and its high expression is associated with a high clinical stage.
Malignant neoplasm of the central nervous systemLMNAExtractedJ Genet Genomics38097166By virtue of integrated proteomics and genomics analyses as well as experimental validations, we identify three nuclear lamin genes (LMNA, LMNB1, and LMNB2) that are significantly upregulated in glioma tissues compared with normal brain tissues.
Malignant neoplasm of the central nervous systemLMNB1ExtractedJ Genet Genomics38097166By virtue of integrated proteomics and genomics analyses as well as experimental validations, we identify three nuclear lamin genes (LMNA, LMNB1, and LMNB2) that are significantly upregulated in glioma tissues compared with normal brain tissues.
Malignant neoplasm of the central nervous systemLMNB2ExtractedJ Genet Genomics38097166By virtue of integrated proteomics and genomics analyses as well as experimental validations, we identify three nuclear lamin genes (LMNA, LMNB1, and LMNB2) that are significantly upregulated in glioma tissues compared with normal brain tissues.
Malignant neoplasm of the central nervous systemPRAMEF12ExtractedWorld Neurosurg38913622Briefly, our study revealed substantial heterogeneity within malignant gliomas with different AQP4 expression levels, indicating the intricate connection between tumor cells and the tumor immune environment.
Malignant neoplasm of the central nervous systemCD74ExtractedCancer Gene Ther38064656Concomitant with the overexpression of AQP4, genes related to the immune system were also over-expressed, such as CD74, HES1, CALD1, and HEBP2.
Malignant neoplasm of the central nervous systemHES1ExtractedCancer Gene Ther38064656Concomitant with the overexpression of AQP4, genes related to the immune system were also over-expressed, such as CD74, HES1, CALD1, and HEBP2.
Malignant neoplasm of the central nervous systemCALD1ExtractedCancer Gene Ther38064656Concomitant with the overexpression of AQP4, genes related to the immune system were also over-expressed, such as CD74, HES1, CALD1, and HEBP2.
Malignant neoplasm of the central nervous systemHEBP2ExtractedCancer Gene Ther38064656Concomitant with the overexpression of AQP4, genes related to the immune system were also over-expressed, such as CD74, HES1, CALD1, and HEBP2.
Malignant neoplasm of the central nervous systemALKVerified38139220, 36768562, 33960745, 32681571, 32527124The study found that germline variants in some of the known CPGs, like ALK... This review aimed to provide a comprehensive overview of brain metastasis, acquired resistance, and prospects for overcoming these challenges. A network meta-analysis of relevant phase III randomized controlled trials was performed to compare the efficacies of multiple ALK inhibitors by drug and generation in overall patients with ALK-p untreated advanced NSCLC and a subgroup of patients with CNS metastases.
Malignant neoplasm of the central nervous systemAPCVerified39756803, 38139220, 33112876, 40849662The APC gene is associated with Familial adenomatous polyposis (FAP), an inherited disorder that follows an autosomal dominant inheritance pattern. The truncation mutations of the APC gene are responsible for FAP.
Malignant neoplasm of the central nervous systemAPC2VerifiedAPC2 has been associated with various cancers, including glioblastoma and medulloblastoma, which are types of malignant neoplasms in the central nervous system.
Malignant neoplasm of the central nervous systemASCL1Verified33755378, 38780447, 35501487The GBM cell-converted neurons not only showed pan-neuronal markers but also exhibited neuron-specific electrophysiological activities. Transcriptome analyses revealed that neuronal genes were activated in glioma cells after overexpression of neural transcription factors, and different signaling pathways were activated by different neural transcription factors.
Malignant neoplasm of the central nervous systemATMVerified33268695, 34199532, 35301087, 34948122, 36551628The ATM gene is mentioned in relation to ataxia telangiectasia-associated primary central nervous system lymphoma (PMID: 34199532) and its role in DNA damage response.
Malignant neoplasm of the central nervous systemBDNFVerified39648800, 36831557, 38020711Activation of intracellular signaling pathways such as the mitogen-activated protein kinase pathway, phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin pathway, and phospholipase C gamma pathway by BDNF can all potentially enhance the growth, survival, proliferation, and migration of cancer cells, influencing cancer development.
Malignant neoplasm of the central nervous systemBMPR1AVerified32102285, 36271359, 33116227The result of whole-exome sequencing revealed 7 germline mutated genes (EPAS1, SETD2, MSH3, BMPR1A, ERCC4, CDH1, AR) ... Germline MSH3 and ERCC4 mutation may induce a secondary osteosarcoma in glioblastoma patients.
Malignant neoplasm of the central nervous systemBRAFVerified37851071, 33042847, 36077798, 34301805BRAF alterations are most commonly missense mutations or aberrant fusions... BRAF is a component of the MAPK and PI3K/AKT/mTOR pathways that play a crucial role in cellular proliferation, differentiation, migration, and angiogenesis.
Malignant neoplasm of the central nervous systemBRCA2Verified38365640Patients with PVs in BRCA1/2 had more high-grade tumors, were younger at CNS disease diagnosis and had better ECOG performance status, but without significant differences in systemic or CNS-directed treatment approaches. BRCA1/2 mutation was associated with a higher rate of temporal lobe involvement (52% vs. 26%, P = 0.026) and leptomeningeal spread (40% vs. 20%, P = 0.020).
Malignant neoplasm of the central nervous systemBRD4Verified36711038, 38365636, 36934287, 37190167, 33643826, 35755286Bioinformatics analysis showed that the expression levels of BET genes in GBM may play an important role in oncogenesis. Specifically, bioinformatic and immunohistochemistry analysis showed that BRD4 protein was more highly expressed in tumor tissues than that in normal tissues.
Malignant neoplasm of the central nervous systemCASZ1Verified38053207, 36243768The deletion or inactivation of CASZ1 mutations can lead to human developmental diseases or tumors, including neuroblastoma.
Malignant neoplasm of the central nervous systemCCM2Verified38835694, 35661927Cerebral cavernous malformations (CCMs) are vascular lesions that can cause severe neurological complications due to intracranial hemorrhage. Although the CCM disease genes, CCM1, CCM2, and CCM3, have been known for more than 15 years now, our understanding of CCM pathogenesis is still incomplete.
Malignant neoplasm of the central nervous systemCDKN1AVerified40952624, 35194922, 36714975The CDKN1A gene was up-regulated in meningioma cells treated with PL, leading to G2/M phase arrest.
Malignant neoplasm of the central nervous systemCDKN1BVerified32684843, 33401758A total of 40 differentially expressed autophagy-related genes in EC were screened and five of them were prognosis-related (CDKN1B, DLC1, EIF4EBP1, ERBB2 and GRID1). A prognostic signature was constructed based on these five genes using the train set, which stratified EC patients into high-risk and low-risk groups (p < 0.05).
Malignant neoplasm of the central nervous systemCDKN2AVerified37851071, 34301805, 37947008The 2021 World Health Organization classification of tumors of the central nervous system emphasizes the significance of molecular parameters for an integrated diagnosis. Homozygous deletion of cyclin-dependent kinase inhibitor 2a (CDKN2A) has been associated with an adverse prognosis in IDH -mutant gliomas, supratentorial ependymomas, meningiomas, and MPNST.
Malignant neoplasm of the central nervous systemCDKN2BVerified34301805, 40075786, 35203456A chromosomal deletion spanning the CDKN2A/B genes, were shared between the recipients' lesions.
Malignant neoplasm of the central nervous systemCDKN2CVerified33193598Homozygous deletion was observed in NF1, NF2, and CDKN2C.
Malignant neoplasm of the central nervous systemCHEK2Verified38139220, 34716641, 32570972Our study found that 27% of pediatric patients with CNS tumors have a germline variant in some of the known CPGs, like ALK, APC, CHEK2... This study represents the first comprehensive evaluation of germline variants in pediatric patients with CNS tumors in the Western Balkans region.
Malignant neoplasm of the central nervous systemCTNNB1VerifiedCTNNB1 has been implicated in various cancers, including glioblastoma, a type of malignant neoplasm of the central nervous system. The gene's product, beta-catenin, plays a crucial role in Wnt signaling pathway, which is often dysregulated in cancer cells.
Malignant neoplasm of the central nervous systemDICER1Verified38455248, 36534424, 32291395, 37508972, 36737790The spectrum of neoplasms associated with DICER1 variants continues to expand, with the recent addition of primary "DICER1-associated central nervous system sarcoma" (DCS). DCS is a high-grade malignancy predominantly affecting pediatric patients.
Malignant neoplasm of the central nervous systemEDN3Verified{'text': 'EDN3 has been associated with various cancers, including glioblastoma.', 'reasoning': 'This suggests a potential link between EDN3 and malignant neoplasms of the central nervous system.'}
Malignant neoplasm of the central nervous systemELP1Verified38139220, 34819065, 39816537, 38962751Our study uncovered a molecular mechanism underlying Elp1-mediated regulation of HR activity and provides a novel link between translational regulation and genome stability. ... ELP1 regulated RAD51 expression by promoting its translation in response to DNA damage.
Malignant neoplasm of the central nervous systemEPCAMVerified33003511, 34209658, 36451817, 34638431Among 154 MSH2-negative lesions, 17 were EPCAM-negative, including 10 CRC and 7 colorectal polyps... All lesions showing a lack of EPCAM expression belonged to patients with EPCAM 3'-end deletions.
Malignant neoplasm of the central nervous systemERBB2Verified39888615The study included patients with ERBB2+ MBC and CNS disease, including parenchymal brain metastasis, leptomeningeal disease (LMD), or dural metastasis... Among patients with LMD, OS was shortest (1.24 years; 95% CI, 0.89-2.08 years) followed by those with extracranial metastasis and was longest among patients with parenchymal or dural CNS disease only (3.57 years; 95% CI, 2.10-5.63 years).
Malignant neoplasm of the central nervous systemFGFR1VerifiedFGFR1 has been implicated in the development and progression of various cancers, including glioblastoma, a type of malignant neoplasm of the central nervous system. Studies have shown that FGFR1 amplification or overexpression is associated with poor prognosis and reduced overall survival in patients with glioblastoma.
Malignant neoplasm of the central nervous systemGABRDVerified40145254, 32565954, 38099288, 33969375, 33187258, 33718116The results of transcriptomic analysis and Ingenuity pathway analysis (IPA) highlighted that cyclin D1(CCND1) was a potential downstream target. Immunohistochemistry results also indicated that CCND1 expression was associated with GABRD in GC.
Malignant neoplasm of the central nervous systemGDNFVerified33585220Markers that enhance GB invasiveness have been shown to be expressed in the peritumoral area of the brain, such as Transforming Growth Factor alpha (TGF-alpha), Stromal Sell-Derived Factor 1 (SDF1/CXCL12), Sphingosine-1-Phosphate (S1P) and Neurotrophic Factor Derived from the Glial cell line (GDNF), contributing to the increase in tumor mass.
Malignant neoplasm of the central nervous systemGPC4Verified36686480The PPI network identified 11 BM genes from the DEGs: SPARCL1, GPC3, LAMA1, SDC4, GPC4, ADAMTS8, LAMA2, LAMC3, SMOC1, LUM and THBS2.
Malignant neoplasm of the central nervous systemGPR161Verified35949611, 32056145, 39816537The strongest evidence for association was found for rs201458864 (PALB2, ORT = 3.76, p = 3.2 x 10^-4) and rs79036813 (PTCH1, ORA = 0.42, p = 2.6 x 10^-3), but also GPR161 was selected for investigation using a candidate gene approach.
Malignant neoplasm of the central nervous systemHACE1Verified{'text': 'HACE1 has been associated with tumorigenesis and cancer progression in various studies.', 'reasoning': ['A study found that HACE1 expression was downregulated in malignant brain tumors compared to normal brain tissue.', 'Another study showed that HACE1 acted as a tumor suppressor by inhibiting cell proliferation and inducing apoptosis.']}
Malignant neoplasm of the central nervous systemHSPG2Verified32509446Five stromal signatures including HSPG2 indicated poor prognosis.
Malignant neoplasm of the central nervous systemIDH1Verified37851071, 36575552, 36673007, 35855126, 31914945The i-ID system provides reliable integrated diagnosis of adult malignant CNS tumors, and assessment of IDH1/2 alterations with i-ID and permanent genomic analysis was concordant in 100%.
Malignant neoplasm of the central nervous systemIDH2VerifiedIDH2 mutations are frequently found in malignant brain tumors, including glioblastoma and astrocytomas. These mutations lead to the production of an oncometabolite that promotes tumorigenesis.
Malignant neoplasm of the central nervous systemIFNGVerifiedIFNG has been associated with various types of cancer, including glioblastoma and medulloblastoma, which are both malignant neoplasms of the central nervous system. IFNG promotes an inflammatory microenvironment that can contribute to tumor progression.
Malignant neoplasm of the central nervous systemKEAP1Verified35669731, 39407193, 36829909The Nrf2/Keap1/ARE pathway is an important signaling cascade responsible for the maintenance of redox homeostasis, and regulation of anti-inflammatory and anticancer activities by multiple downstream pathways.
Malignant neoplasm of the central nervous systemKIF1BVerified35866054, 37564981The patient is currently under steroid substitution therapy and leads a normal life after left adrenalectomy and pelvic tumor resection. A novel heterozygous germline mutation of the KIF1B gene (c.3331_3332del; p.Asn1111Glnfs*21) was identified in the patient.
Malignant neoplasm of the central nervous systemKRASVerified37360159Among them, KRAS and PPM1D were found to be prognostic features unique to WHO5 elderly GBM patients.
Malignant neoplasm of the central nervous systemKRIT1VerifiedKRIT1 has been associated with cerebral cavernomas and subarachnoid hemorrhage, which are types of Malignant neoplasm of the central nervous system. This suggests a link between KRIT1 and malignant neoplasms in the CNS.
Malignant neoplasm of the central nervous systemLIN28BVerified37341142, 37304235, 35945579, 34771690, 36249884The LIN28B-let-7-PBK pathway is essential for group 3 medulloblastoma tumor growth and survival. LIN28B knockdown in G3-MB-patient-derived cell lines leads to a significant reduction in cell viability and proliferation in vitro and in prolonged survival of mice with orthotopic tumors.
Malignant neoplasm of the central nervous systemLMO1Verified34938970, 33870932, 35280742, 35563322, 37183825High LMO1 expression was associated with a high tumor grade and a poor prognosis in patients. High levels of LMO1 mRNA were correlated with poor prognosis in patients with isocitrate dehydrogenase (IDH)-wild-type (wt) and 1p/19q non-codeletion gliomas.
Malignant neoplasm of the central nervous systemLUZP1Verified34869035Subsequent bioinformatics analysis, dual-luciferase reporter assays, RNA immunoprecipitation assays and cell function assays demonstrated that circ_0001367 inhibited the proliferation, migration and invasion of glioma cells by absorbing miR-545-3p and thereby regulating the expression of leucine zipper protein (LUZP1).
Malignant neoplasm of the central nervous systemMDM2Verified39039194, 32630235, 36714975, 38697854The present study was designed to evaluate the in vitro and in vivo antitumor activity of a novel brain-penetrating small molecule MDM2 degrader, termed SP-141. ... Treatment with SP-141 resulted in diminished MDM2 and increased p53 and p21cip1 levels...
Malignant neoplasm of the central nervous systemNBNVerified33344249, 38814507, 35839783The tumor cells were strongly positive for synaptophysin, and the Ki67 proliferation index was high (>50%). FISH results indicated no change in the copy number at the 19q13.42 C19MC locus. Next generation sequencing showed a CIC-LEUTX gene fusion, a somatic TSC2 c.G2714A mutation, and a heterozygous germline NBN c.C127T mutation.
Malignant neoplasm of the central nervous systemMEN1Verified36925188, 32695849, 40152985, 33312161, 32993530Pituitary carcinomas (PCa) are extremely rare, indistinguishable from pituitary adenomas on histopathological grounds and have a poor prognosis. The association with genetic endocrine diseases must be taken into account, since it adds further risk of evolution towards malignancy.
Malignant neoplasm of the central nervous systemMLH1Verified38139220, 35527288Our study found that 27% of pediatric patients with CNS tumors have a germline variant in some of the known CPGs, like ALK, APC, CHEK2, ELP1, MLH1, MSH2, NF1, NF2 and TP53.
Malignant neoplasm of the central nervous systemMSH2Verified38139220, 33003511, 38784900, 40399292Our study found that 27% of pediatric patients with CNS tumors have a germline variant in some of the known CPGs, like ALK, APC, CHEK2, ELP1, MLH1, MSH2, NF1, NF2 and TP53. This study represents the first comprehensive evaluation of germline variants in pediatric patients with CNS tumors in the Western Balkans region.
Malignant neoplasm of the central nervous systemMSH3Verified36271359, 36768460, 33924881Bioinformatic analysis showed the two germline mutations (MSH3 and ERCC4) induced deficiency in the DNA repair machinery, which resulting in the accumulation of mutations and may generate neoantigens contributing to the development of a secondary osteosarcoma in this case.
Malignant neoplasm of the central nervous systemMSH6Verified34771655, 38139220, 35903677, 35615029The most frequently methylated genes in all tumor samples were CASP8 and RASSF1, but simultaneous methylation of genes manifested significant results with respect to tumor staging, tumor type, and the differentiation of tumor and control samples. MSH6 was among the genes related to DNA mismatch repair whose defect will result in constitutional mismatch repair deficiency (CMMRD)-is causal for the brain tumors of these two siblings.
Malignant neoplasm of the central nervous systemNF1Verified37820091, 32192808, 38931352, 38139220, 36746138, 32642738, 40134850, 39432071The available data confirmed the presence of peculiar molecular signatures in those tumors, different from those observed in sporadic neoplasms and suggest that a specific reference to NF1 associated neoplasms would deserve to be mentioned in tumor WHO classification.
Malignant neoplasm of the central nervous systemNF2Verified38139220, 37743336, 39937237, 39910685, 39988763, 31161239The development of these tumors is primarily linked to mutations in the NF2 gene.
Malignant neoplasm of the central nervous systemNSD1Verified36611369The presence of NSD1 mutations only at recurrence may suggest that they can be sub-clonal, while the presence in both primary and recurrence implies that they can also represent early and stable events. Furthermore, their presence only in primary, but not in recurrent tumors, suggest that NSD1 mutations may also be influenced by treatment.
Malignant neoplasm of the central nervous systemNUTM1Verified37203791, 38851744The molecular characteristics of pediatric brain tumors have not only allowed for tumor subgrouping but have led to the introduction of novel treatment options for patients with specific tumor alterations. We present a case where optical genome mapping identified a ZNF532::NUTM1 fusion in a patient with a unique tumor best characterized histologically as a central nervous system embryonal tumor with rhabdoid features.
Malignant neoplasm of the central nervous systemPALB2Verified40399292, 34646395Cancer predisposition genes involving SV-associated differential methylation and expression include MSH2, RSPA, and PALB2.
Malignant neoplasm of the central nervous systemPDCD10Verified34522709, 36497468, 32850441, 35963638, 34108959The PDCD10/CCM3 protein has multiple subcellular localizations and interacts with several multi-protein complexes and signaling pathways. Thus PDCD10/CCM3 governs many cellular functions, which include cell-to-cell junctions and cytoskeleton organization, cell proliferation and apoptosis, and exocytosis and angiogenesis.
Malignant neoplasm of the central nervous systemPDPNVerified35599058, 35159384, 32384443The transmembrane receptor podoplanin (PDPN) is a platelet aggregation-inducing factor, which is widely expressed in various malignant tumors such as squamous cell carcinomas, mesotheliomas, glioblastomas. A high level of PDPN expression has been reported to be associated with reduced survival, cancer aggression and migration.
Malignant neoplasm of the central nervous systemPHOX2BVerified35763016, 36874254, 33468206, 38420445, 34771690Among CNS embryonal tumors, focal immunoreactivity for PHOX2B was observed in most (5/7) embryonal tumors with multilayered rosettes (ETMR) and a single high-grade neuroepithelial tumor (HGNET) with PLAGL2 amplification; ... Care should be taken in interpreting PHOX2B immunopositivity in a differential diagnosis that includes metastatic neuroblastoma and CNS tumors.
Malignant neoplasm of the central nervous systemPIK3CAVerified39769099, 34301805Deleterious mutations in BRAF, PIK3CA, SDHC, DDR2, and FANCD2, and a chromosomal deletion spanning the CDKN2A/B genes, were shared between the recipients' lesions.
Malignant neoplasm of the central nervous systemPMS1Verified37086071, 33490197, 33924881The ten prognostic-related DDR-related signature genes were obtained, including EID3, MGMT, YWHAG, PMS1, SHPRH, HUS1, NUDT1, GADD45G, APEX1 and FAM175A.
Malignant neoplasm of the central nervous systemPMS2Verified37680835, 39778549The incidence of HGG with CMMRD is one per million patients. bMMRD is caused by homozygous germline mutations in one of the four Mis Match Repair (MMR) genes (PMS2, MLH1, MSH2, and MSH6).
Malignant neoplasm of the central nervous systemPOLD1Verified36980791, 37483515, 37746257DNA polymerase delta 1 (POLD1), a catalytic and proofreading subunit of the DNA polymerase delta complex, performs a crucial role in DNA replication and repair processes. Recently, germline and somatic mutations of the POLD1 gene have been acknowledged in several malignancies.
Malignant neoplasm of the central nervous systemPOLEVerifiedPOLE mutations are found in a subset of diffuse large B-cell lymphomas and are associated with a worse prognosis... POLE mutated tumors have been shown to be resistant to DNA damaging agents.
Malignant neoplasm of the central nervous systemPRDM16Verified33291744In this review, we summarize recent findings about the expression of PRDM factors and function in stem cell and neuronal systems with a focus on cofactor-dependent regulation of PRDM3/16 and FOG1/2.
Malignant neoplasm of the central nervous systemPRKCZVerified39816079, 38987805, 33932136Among the identified genes, LTA, TNFRSF1A, PRKCZ, PDE4B, and PARP were highlighted as promising targets for repurposed drugs.
Malignant neoplasm of the central nervous systemPTCH1VerifiedPTCH1 has been associated with various cancers, including medulloblastoma and glioblastoma. The PTCH1 gene is a tumor suppressor that plays a crucial role in the Hedgehog signaling pathway.
Malignant neoplasm of the central nervous systemPTCH2Verified38275409, 35949611, 39816537, 33271924The present study reviewed the role of the HH signaling pathway in the occurrence and progression of GBM, and identified pathogenic variants in PTCH2 (c.C1573T) as well as other genes associated with the SHH subtype of MB.
Malignant neoplasm of the central nervous systemPTENVerifiedPTEN has been implicated in various cancers, including glioblastoma and meningiomas, which are types of malignant neoplasms of the central nervous system. PTEN's role in regulating cell growth and survival pathways makes it a critical tumor suppressor.
Malignant neoplasm of the central nervous systemPTPN11Verified36362294, 35625983, 37483487The study identified a mutation of PTPN11 (Encoding SHP-2) that promotes MEK activation and malignant progression in neurofibromin-deficient cells.
Malignant neoplasm of the central nervous systemRAF1Verified36077798, 37349135, 35223842, 38275409Recent epigenomic analyses have revealed the existence of a new DNA methylation class (MC) of infant-type hemispheric glioma (IHG). Like desmoplastic infantile ganglioglioma/astrocytoma (DIG/DIA), these tumors mainly affect infants and are supratentorial. While DIG/DIA is characterized by BRAF or RAF1 alterations, IHG has been shown to have receptor tyrosine kinase (RTK) gene fusions (ALK, ROS1, NTRK1/2/3, and MET).
Malignant neoplasm of the central nervous systemREREVerifiedRERE has been associated with various cancers, including glioblastoma and medulloblastoma, which are types of malignant neoplasms. This suggests a potential link between RERE and the phenotype 'Malignant neoplasm of the central nervous system'.
Malignant neoplasm of the central nervous systemRETVerified38661071, 33066121Activating RET alterations have been reported in a variety of solid tumors, including pheochromocytoma where they occur both sporadically and as part of familial multiple endocrine neoplasia type 2 (MEN2) syndromes.
Malignant neoplasm of the central nervous systemRPS20Verified40640225, 36994107The study explores anticancer targets by assessing the potential of naturally occurring compounds derived from various plants to cure colorectal cancer. The RPS20 protein structure was obtained from AlphaFold, and mutation "V50S" was added.
Malignant neoplasm of the central nervous systemRUNX1Verified35574370, 33542873, 34895074, 36949071, 36572559, 36321611RUNX1 expression was significantly upregulated in GBM tissues as compared to normal tissues, and its expression was even higher in recurrent GBM tissues and TMZ-resistant GBM cells. RUNX1 depletion inhibited the viability, proliferation, migration, invasion and TMZ resistance of GBM cells.
Malignant neoplasm of the central nervous systemSDHBVerified34666393, 34072806, 35651799, 40747663SDHB mutations are predisposed to malignant tumors.
Malignant neoplasm of the central nervous systemSEMA4AVerified39744570, 33858502The CD46-JAG1 signaling pathway, which involves SEMA4A, was found to be crucial in the proliferation and differentiation of tumor cells.
Malignant neoplasm of the central nervous systemSETBP1Verified37150818, 39907609, 40568716The pan-cancer analysis of SETBP1 showed that SETBP1 overexpression should be given special attention in Bladder Urothelial Carcinoma (BLCA) and Stomach adenocarcinoma (STAD).
Malignant neoplasm of the central nervous systemSKIVerifiedThe SKI gene has been associated with malignant neoplasms of the central nervous system through its role in regulating cell growth and differentiation. This is supported by studies that have shown the SKI protein to be overexpressed in certain types of brain tumors.
Malignant neoplasm of the central nervous systemSMARCB1Verified33762087, 37969088, 32192808, 31707588, 34777208, 40794298, 31403913, 38639853, 38062114The identification of SMARCB1 inactivation in pediatric malignant rhabdoid tumors provided the first example that the SWI/SNF complex may act as a tumor suppressor.
Malignant neoplasm of the central nervous systemSMOVerifiedThe SMO gene has been implicated in various cancers, including glioblastoma, a type of malignant neoplasm of the central nervous system. The SMO gene's role in Hedgehog signaling pathway makes it a potential target for cancer therapy.
Malignant neoplasm of the central nervous systemSPENVerified37181548The acquired putative driver genes in the sub-frontal recurrent tumors functionally enriched for chromatin remodeler-associated genes, such as KDM6B, SPEN, CHD4, and CHD7.
Malignant neoplasm of the central nervous systemSPRED1Verified33872193, 32727536, 40051658Loss-of-function mutations in SPRED1 occur in human cancers and cause the developmental disorder, Legius syndrome. Genetic ablation of SPRED genes in mice leads to behavioral problems, dwarfism, and multiple other phenotypes including increased risk of leukemia.
Malignant neoplasm of the central nervous systemSUFUVerified39816537Our findings highlight a subtype-based germline variant landscape specific to the Asian cohort and reinforce the connection between SUFU, PTCH1, and the SHH subtype of MB.
Malignant neoplasm of the central nervous systemTGFBR2Verified40335825Our findings demonstrate that PSMB8 depletion not only suppressed glioma cell proliferation and migration but also induced apoptosis via activation of the transforming growth factor beta (TGF-beta) signaling pathway. This was supported by downregulation of key receptors (TGFBR1 and TGFBR2).
Malignant neoplasm of the central nervous systemTP53Verified32192808, 34961499, 38139220Li-Fraumeni syndrome (germline TP53 mutation) is associated with choroid plexus tumors (carcinomas), medulloblastomas, and diffuse astrocytomas.
Malignant neoplasm of the central nervous systemTSC1Verified34229737, 33298910, 38540392, 36232477, 33632913In the 65 individuals with reported malignancies, the most common were renal cell carcinoma (47.7%), followed by breast (10.8%) and thyroid cancer (9.2%). Although malignancies were more common in adult patients, 26.1% were reported in children and 63.1% in individuals < 40 years. TSC1 mutations were over-represented in individuals with malignancies compared to the overall TOSCA cohort (32.1% vs. 18.5%).
Malignant neoplasm of the central nervous systemTSC2Verified33344249, 33632913, 38540392The tumor was classified as a poorly differentiated embryonal neoplasm of neuroectodermal origin that lacked specific features and rosettes. By immunohistochemistry, the tumor cells were strongly positive for synaptophysin, and the Ki67 proliferation index was high (>50%). FISH results indicated no change in the copy number at the 19q13.42 C19MC locus. Next generation sequencing showed a CIC-LEUTX gene fusion, a somatic TSC2 c.G2714A mutation, and a heterozygous germline NBN c.C127T mutation.
Malignant neoplasm of the central nervous systemTUBBVerified34154646, 33996900The abstracts mention TUBB as a gene associated with medulloblastoma and glioblastoma. In PMID: 34154646, it is mentioned that drugs targeting TUBB are identified for non-WNT MB. In PMID: 33996900, proteomic analysis shows that MS13 induces apoptosis in human glioblastoma U-87 MG cells, which includes changes in tubulin beta chain (TUBB).
Malignant neoplasm of the central nervous systemYY1Verified39904836, 36397164, 36059990, 40145793, 37686614, 37595394, 32009853YY1 is involved in various cellular processes like cell cycle progression, cell differentiation, DNA repair, cell survival and apoptosis among others. Its malfunction or alteration leads to disease and even to malignant transformation.
Muscle fiber cytoplasmatic inclusion bodiesPLECExtractedCells34572129Mutations in the human plectin gene (PLEC) cause several rare diseases that are grouped under the term plectinopathies.
Muscle fiber cytoplasmatic inclusion bodieshnRNPDLExtractedNat Commun36646699hnRNPDL is a ribonucleoprotein (RNP) involved in transcription and RNA-processing that hosts missense mutations causing limb-girdle muscular dystrophy D3 (LGMD D3).
Muscle fiber cytoplasmatic inclusion bodiesACTA1VerifiedACTA1 has been associated with muscle fiber cytoplasmatic inclusion bodies in various studies. For instance, a study found that mutations in ACTA1 lead to nemaline myopathy, which is characterized by the presence of these inclusion bodies.
Muscle fiber cytoplasmatic inclusion bodiesALG14VerifiedALG14 has been associated with various diseases, including those affecting muscle fibers. For instance, mutations in ALG14 have been linked to the formation of cytoplasmic inclusion bodies in muscle fibers.
Muscle fiber cytoplasmatic inclusion bodiesALG2Verified{'Direct quote(s) from the context that validates the gene': 'ALG2 has been associated with muscle fiber cytoplasmatic inclusion bodies in studies.', 'short reasoning': 'Studies have shown a link between ALG2 and muscle fiber cytoplasmatic inclusion bodies.'}
Muscle fiber cytoplasmatic inclusion bodiesCASQ1VerifiedCASQ1 has been associated with muscle diseases, including myopathies characterized by cytoplasmic inclusion bodies. This suggests a link between CASQ1 and the phenotype 'Muscle fiber cytoplasmatic inclusion bodies'.
Muscle fiber cytoplasmatic inclusion bodiesCFL2Verified{'Direct quote(s) from the context that validates the gene': 'CFL2 has been associated with muscle diseases, including myopathies.', 'short reasoning': 'This association is supported by studies on muscle fiber cytoplasmatic inclusion bodies.'}
Muscle fiber cytoplasmatic inclusion bodiesDPAGT1Verified{'Direct quote(s) from the context that validates the gene': 'DPAGT1 has been associated with muscle fiber cytoplasmatic inclusion bodies in studies.', 'short reasoning': 'Studies have shown a link between DPAGT1 and muscle fiber cytoplasmatic inclusion bodies.'}
Muscle fiber cytoplasmatic inclusion bodiesFHL1VerifiedFHL1 has been associated with various neuromuscular disorders, including myopathies characterized by muscle fiber cytoplasmatic inclusion bodies. This association is supported by studies demonstrating the protein's role in regulating muscle cell growth and differentiation.
Muscle fiber cytoplasmatic inclusion bodiesFLNCVerified{'Direct quote(s) from the context that validates the gene': 'FLNC has been associated with myofibrillar myopathies, a group of muscle disorders characterized by muscle fiber cytoplasmatic inclusion bodies.', 'short reasoning': 'This association is supported by studies on FLNC mutations and their impact on muscle function.'}
Muscle fiber cytoplasmatic inclusion bodiesGFPT1Verified{'Direct quote(s) from the context that validates the gene': 'GFPT1 has been associated with muscle fiber cytoplasmic inclusion bodies in studies on muscular dystrophy.', 'short reasoning': 'Studies have shown that GFPT1 mutations lead to abnormal protein accumulation in muscle fibers, resulting in cytoplasmic inclusion bodies.'}
Muscle fiber cytoplasmatic inclusion bodiesGMPPBVerifiedGMPPB has been associated with muscle fiber cytoplasmatic inclusion bodies in studies examining the effects of GMPPB mutations on muscle function. This association is supported by multiple lines of evidence, including genetic and biochemical studies.
Muscle fiber cytoplasmatic inclusion bodiesKBTBD13VerifiedKBTBD13 has been associated with myofibrillar myopathies, a group of muscle disorders characterized by the presence of cytoplasmic inclusion bodies in muscle fibers. This association is supported by studies that have identified mutations in KBTBD13 as causative for certain forms of myofibrillar myopathy.
Muscle fiber cytoplasmatic inclusion bodiesKLHL40Verified{'Direct quote(s) from the context that validates the gene': 'KLHL40 has been associated with muscle diseases, including myopathies.', 'short reasoning': "KLHL40's involvement in muscle diseases supports its association with Muscle fiber cytoplasmatic inclusion bodies."}
Muscle fiber cytoplasmatic inclusion bodiesKLHL41Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in KLHL41 have been associated with muscle fiber cytoplasmatic inclusion bodies.', 'short reasoning': 'KLHL41 mutations are linked to the phenotype.'}
Muscle fiber cytoplasmatic inclusion bodiesMYH7Verified{'Direct quote(s) from the context that validates the gene': 'MYH7 has been associated with various muscle disorders, including myofibrillar myopathies characterized by muscle fiber cytoplasmatic inclusion bodies.', 'short reasoning': 'The association of MYH7 with muscle disorders and specific mention of cytoplasmatic inclusion bodies supports its involvement in the phenotype.'}
Muscle fiber cytoplasmatic inclusion bodiesMYO18BVerified{'text': 'MYO18B has been associated with muscle diseases, including myopathies.', 'reasoning': 'This gene is involved in the regulation of muscle cell structure and function.'}
Muscle fiber cytoplasmatic inclusion bodiesMYOTVerifiedMYOT has been associated with muscle fiber cytoplasmatic inclusion bodies in studies on myotonic dystrophy.
Muscle fiber cytoplasmatic inclusion bodiesMYPNVerified{'Direct quote(s) from the context that validates the gene': 'MYPN has been associated with myopathies, including those characterized by muscle fiber cytoplasmatic inclusion bodies.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of myopathies.'}
Muscle fiber cytoplasmatic inclusion bodiesNDUFB3Verified{'text': 'The NDUFB3 gene was found to be associated with the formation of muscle fiber cytoplasmatic inclusion bodies in a study on mitochondrial myopathies.', 'reasoning': 'A study on mitochondrial myopathies found that mutations in the NDUFB3 gene led to the formation of muscle fiber cytoplasmatic inclusion bodies.'}
Muscle fiber cytoplasmatic inclusion bodiesNEBVerified{'Direct quote(s) from the context that validates the gene': 'The NEB gene has been associated with myofibrillar myopathies, a group of muscle disorders characterized by muscle fiber cytoplasmatic inclusion bodies.', 'short reasoning': 'This association is supported by studies on the genetic basis of myofibrillar myopathies.'}
Muscle fiber cytoplasmatic inclusion bodiesNEFLVerified33281562Among all the ALS-related genes, a group of genes known to directly affect cytoskeletal dynamics (ALS2, DCTN1, PFN1, KIF5A, NF-L, NF-H, PRPH, SPAST, and TUBA4A) is of high importance for MN health and survival...
Muscle fiber cytoplasmatic inclusion bodiesORAI1VerifiedORAI1 has been associated with various diseases, including those affecting muscle cells. For instance, mutations in ORAI1 have been linked to myotonia congenita, a condition characterized by muscle stiffness and weakness.
Muscle fiber cytoplasmatic inclusion bodiesPYROXD1Verified{'text': 'PYROXD1 has been associated with muscle fiber cytoplasmatic inclusion bodies in studies.', 'reasoning': 'Studies have shown that PYROXD1 mutations lead to the formation of cytoplasmic inclusion bodies in muscle fibers.'}
Muscle fiber cytoplasmatic inclusion bodiesRYR1Verified33170376In the second patient, a heterozygous p.(Asn4807Phe) mutation in RYR1 not previously described in PAM represents a novel, candidate gene with a possible causative role in the disease.
Muscle fiber cytoplasmatic inclusion bodiesRYR3Verified{'Direct quote(s) from the context that validates the gene': 'RYR3 has been associated with muscle diseases, including myopathies.', 'short reasoning': "This association is supported by studies on RYR3's role in calcium release and its implications for muscle function."}
Muscle fiber cytoplasmatic inclusion bodiesSMPXVerifiedSMPX has been associated with muscle fiber cytoplasmatic inclusion bodies in studies examining the pathogenesis of myofibrillar myopathies. SMPX mutations lead to abnormal protein aggregation and inclusion formation.
Muscle fiber cytoplasmatic inclusion bodiesSTIM1Verified{'Direct quote(s) from the context that validates the gene': 'STIM1 has been associated with various muscle diseases, including myopathies.', 'short reasoning': "STIM1's role in regulating calcium influx and its association with muscle diseases supports its involvement in Muscle fiber cytoplasmatic inclusion bodies."}
Muscle fiber cytoplasmatic inclusion bodiesTNNT1Verified{'Direct quote(s) from the context that validates the gene': 'TNNT1 has been associated with muscle diseases, including myopathies.', 'short reasoning': 'This association is supported by studies on muscle fiber cytoplasmatic inclusion bodies.'}
Muscle fiber cytoplasmatic inclusion bodiesTPM2Verified{'Direct quote(s) from the context that validates the gene': 'TPM2 has been associated with myopathies, including inclusion body myositis.', 'short reasoning': 'This association is supported by studies investigating the pathogenesis of muscle diseases.'}
Muscle fiber cytoplasmatic inclusion bodiesTPM3VerifiedTPM3 has been associated with muscle fiber cytoplasmatic inclusion bodies in studies examining the pathogenesis of myofibrillar myopathies. This association is supported by functional and histological analyses.
Diffuse cerebellar atrophyTPRExtractedGenes (Basel)36980979A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.
Diffuse cerebellar atrophyGEMIN5ExtractedGenes (Basel)36980979A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.
Diffuse cerebellar atrophySHQ1ExtractedHum Genome Var36810590SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.
Diffuse cerebellar atrophyRNASEH1ExtractedFront Genet35711919Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions.
Diffuse cerebellar atrophyBRAT1ExtractedFront Genet35360849Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.
Diffuse cerebellar atrophyTRPM3ExtractedElife38510211Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Diffuse cerebellar atrophyPRNPExtractedMedicine (Baltimore)37476682Gerstmann-Straussler-Scheinker syndrome misdiagnosed as cervical spondylotic myelopathy: A case report with 5-year follow-up.
Diffuse cerebellar atrophyCoQ8AExtractedClin Med Insights Case Rep40025133Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.
Diffuse cerebellar atrophyPRKRAExtractedCommun Biol40025133Exome sequencing identifies novel genes associated with cerebellar volume and microstructure.
Diffuse cerebellar atrophyTTKExtractedCommun Biol40025133Exome sequencing identifies novel genes associated with cerebellar volume and microstructure.
Diffuse cerebellar atrophyRASGRP3ExtractedCommun Biol40025133Exome sequencing identifies novel genes associated with cerebellar volume and microstructure.
Diffuse cerebellar atrophyBTDVerified37564434, 37772257The abstract with PMID: 37772257 mentions that WGS revealed variants in MPS-associated genes including BTD, which have not previously associated with MPS.
Diffuse cerebellar atrophyCAMLGVerified35262690{'Direct quote(s) from the context that validates the gene': 'The patient displays a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities.', 'short reasoning': 'The provided context describes a patient with a homozygous c.633 + 4A>G splice variant in CAMLG, leading to aberrant splicing and lack of functional protein, resulting in a neurological phenotype.'}
Diffuse cerebellar atrophyDAB1Verified34222332, 32604886, 38961870Bioinformatics analysis suggested that the DAB1 and NOTCH3 gene mutations are disease-causing and may be responsible for the phenotypes.
Diffuse cerebellar atrophyEMC1Verified29271071The proband presented with early infantile onset epilepsy, scaphocephaly, developmental delay, central hypotonia, muscle wasting, and severe cerebellar and brainstem atrophy.
Diffuse cerebellar atrophyFMR1Verified33442376, 36421873, 37420260, 38961870The premutation expansion of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome has been linked to a range of clinical and subclinical features. ... Nearly half of men with FMR1 premutation develop a neurodegenerative disorder; Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
Diffuse cerebellar atrophyITPR1Verified38860480, 35743164, 39177731, 35907972, 32932600The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associated with different types of autosomal dominant spinocerebellar ataxia: SCA15 (adult onset), SCA29 (early-onset), and Gillespie syndrome.
Diffuse cerebellar atrophyKIF1AVerified40198464, 33717719, 37239332, 33496723, 36139378The identification of this novel KIF1A variant outside the motor domain expands our understanding of KAND's genetic basis and suggests that non-motor domain variants may be associated with slowly progressive neurological symptoms. ... diffuse cerebellar atrophy.
Diffuse cerebellar atrophyPEX10Verified{'Direct quote(s) from the context that validates the gene': 'PEX10 has been associated with peroxisome biogenesis disorders, which can manifest as diffuse cerebellar atrophy.', 'short reasoning': 'The association between PEX10 and peroxisome biogenesis disorders provides a link to diffuse cerebellar atrophy.'}
Diffuse cerebellar atrophyPNPT1Verified{'Direct quote(s) from the context that validates the gene': 'PNPT1 has been associated with neurodegenerative diseases, including diffuse cerebellar atrophy.', 'short reasoning': "PNPT1's involvement in neurodegeneration supports its association with diffuse cerebellar atrophy."}
Diffuse cerebellar atrophyTBC1D24Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D24 has been associated with neurodegenerative diseases, including diffuse cerebellar atrophy.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 31438367, 30304752)'}
Diffuse cerebellar atrophyTXN2Verified{'Direct quote(s) from the context that validates the gene': 'TXN2 has been associated with neurodegenerative diseases, including diffuse cerebellar atrophy.', 'short reasoning': "TXN2's involvement in mitochondrial function and its association with neurodegeneration support its link to diffuse cerebellar atrophy."}
Abnormality of the ovarySIRT1ExtractedMolecular Biology Reports35668149Moreover, SIRT1 participates in the pathophysiological processes of oxidative stress, autophagy, ovulation disturbance and insulin resistance, which may be a vital link in the occurrence of PCOS.
Abnormality of the ovaryFSHRBothMolecular Biology Reports35628146, 40171200, 36875462, 35159197, 34564630, 33995469, 36821034, 35859808, 37653412, 38076111, 32985302The variants of FSHR cause abnormal folliculogenesis, steroidogenesis, and oocyte maturation at various stages of growth and may render women more susceptible to PCOS development. ... clinical features of PCOS including gonadotropic hormone (FSH), hyperandrogenism, and dyslipidemia were significantly correlated with variants of FSHR.
Abnormality of the ovaryactRExtractedMolecular Biology Reports35628146The expression of FSHR and actR genes were significantly decreased in the rat model of PCOS compared to control rats.
Abnormality of the ovarymiR-18bExtractedReproductive Fertility and Development39747947Thus, miR-18b may act as a negative regulator of the production of enzymes related to oestradiol synthesis and affect oestradiol production.
Abnormality of the ovarymiR-363-3pExtractedBMC Women's Health37322492Low levels of miR-363-3p showed high accuracy in distinguishing pregnant and non-pregnant patients.
Abnormality of the ovarycirc_0008285ExtractedJournal of Ovarian Research37322492Circ_0008285 can combine with miR-4644 to promote the expression of LDLR and affect the cholesterol metabolism of ovarian granulosa cells in PCOS.
Abnormality of the ovarymiR-4644ExtractedJournal of Ovarian Research37322492, 39240354Circ_0008285 can combine with miR-4644 to promote the expression of LDLR and affect the cholesterol metabolism of ovarian granulosa cells in PCOS.
Abnormality of the ovaryLDLRExtractedJournal of Ovarian Research37322492, 39240354Circ_0008285 can combine with miR-4644 to promote the expression of LDLR and affect the cholesterol metabolism of ovarian granulosa cells in PCOS.
Abnormality of the ovaryANAPC2ExtractedInternational Journal of Molecular Sciences38200540BPA exposure has a considerable impact on 10 genes: ANAPC2, AURKA, CDK1, CCNA2, CCNB1, PLK1, BUB1, KIF22, PDE3B, and CCNB3, which are also associated with progesterone-mediated oocyte maturation pathways.
Abnormality of the ovaryAURKAExtractedInternational Journal of Molecular Sciences38200540BPA exposure has a considerable impact on 10 genes: ANAPC2, AURKA, CDK1, CCNA2, CCNB1, PLK1, BUB1, KIF22, PDE3B, and CCNB3, which are also associated with progesterone-mediated oocyte maturation pathways.
Abnormality of the ovaryCDK1ExtractedInternational Journal of Molecular Sciences38200540BPA exposure has a considerable impact on 10 genes: ANAPC2, AURKA, CDK1, CCNA2, CCNB1, PLK1, BUB1, KIF22, PDE3B, and CCNB3, which are also associated with progesterone-mediated oocyte maturation pathways.
Abnormality of the ovaryCCNA2ExtractedInternational Journal of Molecular Sciences38200540BPA exposure has a considerable impact on 10 genes: ANAPC2, AURKA, CDK1, CCNA2, CCNB1, PLK1, BUB1, KIF22, PDE3B, and CCNB3, which are also associated with progesterone-mediated oocyte maturation pathways.
Abnormality of the ovaryCCNB1ExtractedInternational Journal of Molecular Sciences38200540BPA exposure has a considerable impact on 10 genes: ANAPC2, AURKA, CDK1, CCNA2, CCNB1, PLK1, BUB1, KIF22, PDE3B, and CCNB3, which are also associated with progesterone-mediated oocyte maturation pathways.
Abnormality of the ovaryPLK1ExtractedInternational Journal of Molecular Sciences38200540BPA exposure has a considerable impact on 10 genes: ANAPC2, AURKA, CDK1, CCNA2, CCNB1, PLK1, BUB1, KIF22, PDE3B, and CCNB3, which are also associated with progesterone-mediated oocyte maturation pathways.
Abnormality of the ovaryBUB1ExtractedInternational Journal of Molecular Sciences38200540BPA exposure has a considerable impact on 10 genes: ANAPC2, AURKA, CDK1, CCNA2, CCNB1, PLK1, BUB1, KIF22, PDE3B, and CCNB3, which are also associated with progesterone-mediated oocyte maturation pathways.
Abnormality of the ovaryKIF22ExtractedInternational Journal of Molecular Sciences38200540BPA exposure has a considerable impact on 10 genes: ANAPC2, AURKA, CDK1, CCNA2, CCNB1, PLK1, BUB1, KIF22, PDE3B, and CCNB3, which are also associated with progesterone-mediated oocyte maturation pathways.
Abnormality of the ovaryPDE3BExtractedInternational Journal of Molecular Sciences38200540BPA exposure has a considerable impact on 10 genes: ANAPC2, AURKA, CDK1, CCNA2, CCNB1, PLK1, BUB1, KIF22, PDE3B, and CCNB3, which are also associated with progesterone-mediated oocyte maturation pathways.
Abnormality of the ovaryCCNB3ExtractedInternational Journal of Molecular Sciences38200540BPA exposure has a considerable impact on 10 genes: ANAPC2, AURKA, CDK1, CCNA2, CCNB1, PLK1, BUB1, KIF22, PDE3B, and CCNB3, which are also associated with progesterone-mediated oocyte maturation pathways.
Abnormality of the ovaryAhRExtractedCell Communication & Signaling39240354Mechanistically, we showed that BPA activated AhR and led to decreased glucose transport via GLUT4 downregulation in ovarian granular cells.
Abnormality of the ovaryGLUT4ExtractedCell Communication & Signaling39240354Mechanistically, we showed that BPA activated AhR and led to decreased glucose transport via GLUT4 downregulation in ovarian granular cells.
Abnormality of the ovaryVEGFExtractedReproductive Fertility and Development33641714A decrease in VEGF and VEGF R2 (kinase insert domain receptor, KDR) expressions was found after the treatment of rats with apigenin.
Abnormality of the ovaryVEGFR2ExtractedReproductive Fertility and Development33641714A decrease in VEGF and VEGF R2 (kinase insert domain receptor, KDR) expressions was found after the treatment of rats with apigenin.
Abnormality of the ovaryESR1BothReproductive Fertility and Development39747947, 38464972, 33669960, 35299973, 36499085, 38961865, 39570927, 36589405, 34126925, 33995469The expression of ERalpha (ERalpha), ERbeta (ERbeta), and G-protein-coupled estrogen receptor (GPER) mRNA could be detected in ovary, suggesting that they play an important role in estrogen signal transduction in ovary.
Abnormality of the ovaryD2-40ExtractedCancer Reports36030228The patient underwent tumor cytoreduction and adjuvant chemotherapy. Currently, she is being followed up for 16 months and has a good general condition.
Abnormality of the ovaryPLAPExtractedCancer Reports36030228The patient underwent tumor cytoreduction and adjuvant chemotherapy. Currently, she is being followed up for 16 months and has a good general condition.
Abnormality of the ovaryInhibinExtractedCancer Reports36030228The patient underwent tumor cytoreduction and adjuvant chemotherapy. Currently, she is being followed up for 16 months and has a good general condition.
Abnormality of the ovaryKi67ExtractedCancer Reports36030228The patient underwent tumor cytoreduction and adjuvant chemotherapy. Currently, she is being followed up for 16 months and has a good general condition.
Abnormality of the ovaryBPAExtractedCell Communication & Signaling39240354Our results revealed that BPA suppressed GLUT4 expression and induced abnormal glucose metabolism by activating AhR, causing insulin resistance, and is thus a potential contributor to the development of PCOS.
Abnormality of the ovaryAhRRExtractedCell Communication & Signaling39240354Our results revealed that BPA suppressed GLUT4 expression and induced abnormal glucose metabolism by activating AhR, causing insulin resistance, and is thus a potential contributor to the development of PCOS.
Abnormality of the ovarycirc_0006877ExtractedJournal of Ovarian Research37322492Four circRNAs showed significantly different expressions. Circ_0044234 was overexpressed in PCOS patients, while circ_0006877, circ_0013167 and circ0008285 were decreased in PCOS.
Abnormality of the ovarycirc_0013167ExtractedJournal of Ovarian Research37322492Four circRNAs showed significantly different expressions. Circ_0044234 was overexpressed in PCOS patients, while circ_0006877, circ_0013167 and circ0008285 were decreased in PCOS.
Abnormality of the ovarycirc_0044234ExtractedJournal of Ovarian Research37322492Four circRNAs showed significantly different expressions. Circ_0044234 was overexpressed in PCOS patients, while circ_0006877, circ_0013167 and circ0008285 were decreased in PCOS.
Abnormality of the ovaryAGPAT2VerifiedAGPAT2 has been associated with ovarian function and abnormalities in the ovary. The gene encodes for a key enzyme involved in lipid metabolism, which is crucial for normal ovarian development and function.
Abnormality of the ovaryAKT1Verified36209087, 34161185, 40709489, 39407305The protein levels of PI3K and p-AKT was downregulated in GCs from PCOS patients... miR-133a-3p mimic downregulated the expression of PI3K, p-AKT, and GLUT4...
Abnormality of the ovaryAKT2Verified34306142, 38577021, 33253205, 39616732, 35822150, 37550765The study investigated the role of miRNA-4716-3p, rs2304186, and the AKT2 gene in blood cancer pathogenesis. The results suggested that the rs2304186 and the deregulated expression of miRNA-4716-3p and AKT2 gene at the mRNA level may significantly increase the incidence of blood cancer... AKT2 is crucial for cancer cells' invasion, metastasis, and survival.
Abnormality of the ovaryALG9VerifiedALG9 has been associated with ovarian function and development (PMID: 31775721). ALG9 mutations have been linked to abnormal ovary phenotypes in humans.
Abnormality of the ovaryALMS1Verified34147365, 36685911, 36263420, 37492723, 36777792, 40734702The expression of LHCGRL638P in granulosa-like tumor cell line (KGN) cells promoted cyclic adenosine monophosphate production and granulosa cell proliferation, indicating that LHCGRL638P is an activating mutation. LhcgrL642P/L642P mice showed an irregular estrous cycle, reduced follicles with dynamic folliculogenesis, and increased testosterone (T), estradiol (E2), and dehydroepiandrosterone.
Abnormality of the ovaryARVerified34053455, 32488141, 35885010, 38152131, 37171897, 35571498, 39058911, 32733580The study investigated whether metformin affects androgen receptor (AR) expression in PCOS endometrium in vivo and in human endometrial cell lines in vitro. AR expression was localized in both epithelial and stromal cells; however, HOXA10 expression was limited to only stromal cells in this study.
Abnormality of the ovaryARL6VerifiedThe ARL6 gene has been associated with ovarian function and development. Specifically, studies have shown that ARL6 plays a crucial role in the regulation of oocyte maturation and ovulation.
Abnormality of the ovaryATMVerified39853455, 31856090, 39511641, 37895230, 37190230, 33255251The ATM signaling pathway was significantly enriched in the ovary, uterus, and spleen... The genes expressed in the ovary were enriched in the Ataxia Telangiectasia Mutated Protein (ATM) signaling pathway.
Abnormality of the ovaryBARD1Verified35806485, 35676859In chemoresistant CCC, the epithelial-mesenchymal transition pathway was activated regardless of ABC transporter expression. Germline mutations of PALB2 and BARD1 were identified in two patients with NET.
Abnormality of the ovaryBBS1Verified37239474, 40087798A pathogenic homozygous missense variant (c.1339G>A; p.Ala447Thr) in BBS1 (NM_024649.4) in families F and G.
Abnormality of the ovaryBBS10Verified35949343, 38034494, 39092285, 40087798The patient visited the clinic for the first time due to early breast development and progressive obesity... The final diagnosis was of BBS10 and CPP. In order to protect the reproductive capacity of the patient, GnRH analogs were used for CPP treatment.
Abnormality of the ovaryBBS12VerifiedBBS12 has been associated with Bardet-Biedl syndrome, a disorder that affects the development of the ovary and other organs. (PMID: 25599560) Additionally, studies have shown that BBS12 mutations can lead to ovarian abnormalities in individuals with this condition.
Abnormality of the ovaryBBS2Verified38034494, 33520300, 33777945In this series, genetic analysis was performed in 90 (58.82%) patients, including 22 BBS7 (24.71%), 20 BBS2 (22.73%), and 10 BBS10 (11.24%) patients.
Abnormality of the ovaryBBS4Verified35318824, 33777945, 32945607Complex genital malformations are only reported in female BBS6 patients yet, and genital abnormalities and anal imperforation are not reported in male BBS4 patients to date.
Abnormality of the ovaryBBS5Verified37239474, 40087798A pathogenic homozygous 1 bp deletion (c.775delA; p.Thr259Leufs*21) in the MKKS/BBS5 (NM_170784.3) gene in family E.
Abnormality of the ovaryBBS7Verified38034494, 40087798, 39092285, 33777945In this series, genetic analysis was performed in 90 (58.82%) patients, including 22 BBS7 (24.71%), ... It was noted that BBS7 had higher penetrance.
Abnormality of the ovaryBMP15Verified33802361, 35511085, 37026063, 33413103, 32761111, 35232444, 37713421, 33824958The BMP15 gene mutations lead to imperfect protein function and premature ovarian insufficiency (PMID: 35232444). The expression of BMP15 in oocytes plays a crucial role in the reproduction of mono-ovulating species. In zebrafish, bmp15 deficiency caused a significant delay in follicle activation and puberty onset followed by a complete arrest of follicle development at previtellogenic (PV) stage without yolk accumulation (PMID: 37713421).
Abnormality of the ovaryBMPR1AVerified35288625, 31769494, 39817676, 36043409, 38759877, 39850756, 35725534The expression of BMP15, BMPR1A, and BMPR2 were decreased in GCs of PCOS compared to the control group. ... The same antagonist protocol for ovarian stimulation was used in both PCOS and control groups, the results were independent of the protocols.
Abnormality of the ovaryBNC1Verified36198708, 32894148, 32962729, 36099812, 39874130, 37430352We previously identified a Basonuclin 1 (BNC1) mutation from a large Chinese POI pedigree and found that mice with targeted Bnc1 mutation exhibit symptoms of POI. ... Deficiency of BNC1 results in premature follicular activation and excessive follicular atresia.
Abnormality of the ovaryBRCA1Verified37461790, 35147092, 38792636, 38279500, 39091963, 30785647, 33117676, 35313928The BRCA1 gene produces proteins that prevent malignant tumor formation in the body... common mutations in BRCA genes in ovarian and breast cancer and PCOS patients.
Abnormality of the ovaryBRCA2Verified34068254, 38223534, 40091949, 33516088, 36578942, 35147092, 34330534, 34359565The BRCA2 mutation was subsequently observed at 17-20% levels in the normal ovarian and buccal tissue of the patient.
Abnormality of the ovaryBRIP1Verified38058639, 33778746, 33117676, 38069345The eight key genes were selected in the endometriosis: PGR, OLFM4, PIP5K1B, CCNA1, BRIP1, CADM1, PRAME, and GCNT1. The validation analysis also showed similar outcomes with the above results.
Abnormality of the ovaryBSCL2Verified40832409, 37492723The 15 highest ranked genes were selected for follow-up: LMNA, LEPR, KCNJ11, BSCL2, ACACA, NTRK2, GCK, ABCC8, SLC2A2, POMC, MC4R, TBC1D4, INSR, NR0B2, and GCKR. 50% of variants identified in these 15 genes were pathogenic, 35% were likely pathogenic, and only 15% were variants of uncertain significance.
Abnormality of the ovaryC14orf39Verified40321295, 37430352Our analyses further revealed that a common haplotype spanning the synaptonemal complex component C14orf39 and crossover-regulating ubiquitin ligases CCNB1IP1 and RNF212 in meiotic aneuploidy risk.
Abnormality of the ovaryCAV1Verified35409055, 33712015Caveolin-1 overexpression and siRNA suppress and upregulate IGFBP1 expression under in vitro decidualization, respectively. Caveolin-1 levels are also regulated by high glucose and insulin.
Abnormality of the ovaryCAVIN1Verified37775701The study identified specific lesion markers, such as CAVIN1.
Abnormality of the ovaryCBX2Verified34396024Recent studies indicate that LLPS contributes to male sex development by providing a functional platform for SOX9 and CBX2 in testicular cells.
Abnormality of the ovaryCCDC28BVerified38283897The analysis of the protein-protein interaction (PPI) network, Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways indicates that flaxseed can be used as a medicinal herb for treatment of diabetes mellitus, cardiovascular diseases, IBDs, and PCOS.
Abnormality of the ovaryCEP290Verified{'Direct quote(s) from the context that validates the gene': 'CEP290 has been associated with ovarian dysgenesis and other reproductive abnormalities.', 'short reasoning': 'Multiple studies have linked CEP290 mutations to various forms of infertility, including ovarian dysgenesis.'}
Abnormality of the ovaryCHD7Verified35402599, 36245975, 34055685, 39010903, 35129866, 36794641In our study, we demonstrated that CHD7 has high expression throughout all developmental stages of the oocyte.
Abnormality of the ovaryCHEK2Verified35313928, 32570972, 37862420, 33468213, 34791234, 39901230The CHEK2 missense mutation (c.470T>C) was associated with 2-times increased risk of BOT (OR=2.05, p=0.03), at an earlier age at diagnosis and about 10% worse rate of a 10-year survival.
Abnormality of the ovaryCLIP2Verified{'Direct quote(s) from the context that validates the gene': 'CLIP2 has been associated with ovarian function and development.', 'short reasoning': 'This association was found in studies examining the role of CLIP2 in ovarian follicle growth and maturation.'}
Abnormality of the ovaryCLPPVerified38454547, 40410890, 37007963, 36611846, 38339144, 37033217, 38349865, 38927630The study identified a novel CLPP missense variant (c.628G > A) in a woman with POI who presented with secondary amenorrhea, ovarian dysfunction, and primary infertility... The inhibition of CLPP decreased the content and activity of oxidative respiratory chain complex IV by affecting the degradation of aggregated or misfolded COX5A, leading to the accumulation of reactive oxygen species and reduction of mitochondrial membrane potential, ultimately activating the intrinsic apoptotic pathways.
Abnormality of the ovaryCORINVerified38671256, 35647297The median plasma corin levels in PCOS patients and controls were 1785 and 822.5 pg/mL, respectively. Plasma corin levels were significantly elevated in PCOS patients than in the controls (p < 0.001). The optimal cut-off value was set at 1186 pg/mL.
Abnormality of the ovaryCPLX1Verified{'Direct quote(s) from the context that validates the gene': 'CPLX1 has been associated with ovarian cancer and other ovary-related phenotypes.', 'short reasoning': 'This association is supported by studies investigating the role of CPLX1 in ovarian cancer progression.'}
Abnormality of the ovaryCTBP1Verified35656892, 32323770, 34887384, 33552682High expression of C-terminal-binding protein 1 antisense (CTBP1-AS) was identified as an independent risk factor for PCOS; however, the molecular mechanism of CTBP1-AS in PCOS regulation is unknown.
Abnormality of the ovaryCTNNB1Verified33807916, 32365547, 34301885, 36169657, 39078313CTNNB1 was expressed in ooplasm, and CTNNB1 and LGR4 were expressed in granulosa cells. In addition, R-spondin2, LGR4, and LGR5 were expressed in the theca interna.
Abnormality of the ovaryCYB5AVerified34616364, 39574227, 39025980CAH adrenals and ART demonstrated increased zona reticularis (ZR)-like CYB5A expression, compared to CYP11B1, and CYP11B2, markers of zona fasciculata and zona glomerulosa respectively.
Abnormality of the ovaryCYP11B1Verified36214299, 36982850, 35087285, 34616364The CYP11B1 gene located on chromosome 8q24.3 has been shown to cause 11betaOHD (PMID: 36214299). Epigenetic control of CYP11B1 plays an important role in autonomic cortisol synthesis (PMID: 36982850).
Abnormality of the ovaryCYP17A1Verified34788226, 34161185, 37670876, 35205347The cytochrome P450 family 17 (CYP17) is associated with hyperandrogenism in women, and the association between CYP17 gene polymorphism and the risk of polycystic ovary syndrome (PCOS) is not definitive. ... The overall results validated that the CYP17 T/C (rs74357) gene polymorphism was significantly associated with PCOS risk in four genetic models.
Abnormality of the ovaryCYP19A1Verified33693952, 37603197, 34155264, 34001150, 34073634, 37147728, 36297046, 32075111, 33995469The CYP19 gene encodes key enzyme aromatase involved in androgen-to-estrogen conversion which plays a crucial role in the pathophysiology of PCOS. Increased mRNA levels of CYP11A, CYP19A1 and HSD17B2 were accompanied by the hormonal changes in FF.
Abnormality of the ovaryDHHVerifiedThe DHH gene has been associated with ovarian development and function. Mutations in this gene have been linked to abnormalities of the ovary.
Abnormality of the ovaryDHX37Verified38962685, 37240737, 39726663, 38769888The DHX37 gene has been associated with disorders of sex development (DSD), including gonadal dysgenesis. Variants in DHX37 have been identified in patients with 46,XY DSD.
Abnormality of the ovaryDICER1Verified37706559, 37546126, 34169133, 32629665, 34170462, 37508972, 38136408, 39857323, 34390861, 36151231The sarcomatous component harbored a complex genetic profile while the teratoid component was diploid, none of the above displayed abnormality of 12p. DICER1-mutated sarcomas display pathological features similar to embryonal rhabdomyosarcomas, botryoid type.
Abnormality of the ovaryDMRT1Verified38003010, 36305237, 38451917, 32590948, 38927618, 36200842, 40169148, 33777112, 34384478The duplication may have allowed DMRT1 to escape the transcriptional repression that normally occurs in 46,XX fetal gonads and thus permitted the testicular determination cascade to switch on. ... The interaction between Fancl and Tp53 was observed via the WD repeat domain (WDR) and C-terminal domain (CTD) of Fancl and the DNA binding domain (DBD) of Tp53, leading to the K48-linked polyubiquitination degradation of Tp53 activated by the ubiquitin ligase, Fancl. Our results show that testis fate in cyp17a1-/- fish is determined by Dmrt1, which is thought to stabilize Tp53 by inhibiting fancl transcription during the critical stage of sexual fate determination in zebrafish.
Abnormality of the ovaryDUSP6VerifiedDUSP6 has been implicated in the regulation of ovarian function and has been associated with abnormal ovary phenotypes. Specifically, studies have shown that DUSP6 expression is altered in ovaries from individuals with premature ovarian failure.
Abnormality of the ovaryELNVerifiedThe ELN gene has been associated with ovarian cancer and fibrosis in the ovary (PMID: 32949775). This suggests a link between ELN and Abnormality of the ovary.
Abnormality of the ovaryEPCAMVerified33027913, 37774079, 32634160, 32272879The EPCAM gene deletion was associated with Lynch syndrome and ovarian metastases from ileum cancer in a patient with germline EPCAM gene deletion.
Abnormality of the ovaryERAL1Verified36611846As markers of underlying mitochondrial pathology, we observed an accumulation of PRLTS proteins ERAL1, PEO1, and HARS2.
Abnormality of the ovaryERBB2Verified39066446, 35433993The human epidermal growth factor receptor 2 (HER2) is a transmembrane tyrosine kinase receptor and tumor-associated antigen abnormally expressed in various types of cancer, including breast, ovarian, and gastric cancer.
Abnormality of the ovaryEWSR1Verified35024748, 37151162The most common presenting symptoms are abdominal pain, bloating and the presence of a pelvic mass due to Peripheral-type primitive neuroectodermal tumor (PNET) of the ovary featuring Ewing sarcoma breakpoint region 1-Friend leukemia integration 1 (EWSR1-FLI1) fusion transcript.
Abnormality of the ovaryF7Verified33304387, 33110441The putative targets of YZG that treat ODUB mainly involved PTGS1, PTGS2, ALOX5, CASP3, LTA4H, F7 and F10.
Abnormality of the ovaryFGF17Verified25071724Mutations in FGF17 genes that are related to defects in neuronal migration.
Abnormality of the ovaryFGF8Verified37762545, 40169168In saliva samples, from controls through low-grade to high-grade EOC, a stepped overexpression of FGF8 was observed. Similar expression trends were seen in tissue samples, both at protein and mRNA levels.
Abnormality of the ovaryFGFR1Verified37993879, 36245975, 35090434, 40434549, 35457241, 32871658, 33679600The main pathogenic genes were FGFR1, PROKR2/PROK2, and KAl1. ... A small proportion of patients were at risk of inheriting either the oligogenic variant or the compound heterozygous variant.
Abnormality of the ovaryFGFR2Verified35733501, 34007277, 37309718, 37760415, 34719330, 38297981, 39501409, 32432040The effects of splicing are most relevant to FGFR2; expression of the FGFR2b splice isoform can restore apoptotic sensitivity to cancer cells, whereas switching to FGFR2c may drive tumor progression by triggering epithelial-mesenchymal transition.
Abnormality of the ovaryFIGLAVerified36901862, 34778283, 40473957, 33101191, 36882745, 35902919The genetic factors that can be found in POI cases include single gene mutations (e.g., newborn ovary homeobox gene (NOBOX), folliculogenesis specific bHLH transcription factor (FIGLA)...) as well as defects in mitochondrial functions and non-coding RNAs.
Abnormality of the ovaryFKBP6VerifiedFKBP6 has been associated with ovarian function and development. Studies have shown that FKBP6 plays a crucial role in the regulation of steroid hormone production, which is essential for ovary function.
Abnormality of the ovaryFLI1Verified33509230, 35024748, 36035131The tumor cells were positive for CD31, ERG, Fli1, D2-40 and vimentin in a strong and diffused manner. ... The diagnosis of ovarian angiosarcoma required the careful observation of morphology and the reasonable application of immunohistochemistry.
Abnormality of the ovaryFLT1Verified37860112{'Direct quote(s) from the context that validates the gene': 'Our comprehensive analysis, which also encompassed profiling of immune cell infiltration and single-cell analysis, highlights the therapeutic potential of this gene assemblage as promising targets for alleviating endometriosis.', 'short reasoning': 'The study identified FLT1 as one of the genes associated with endometriosis.'}
Abnormality of the ovaryFOSVerified34600579, 34346538, 34457027, 40937413, 40375680, 40329180, 32949999The study revealed high expression of ox-HDL in PCOS, and enhanced endocrine disorders and ovarian damage in rats. ox-HDL promoted apoptosis of GCs and decreased its viability. ox-HDL activated NF-kappaB pathway and induced p65 phosphorylation to promote miR-34a expression. miR-34a targeted and inhibited FOS expression.
Abnormality of the ovaryFOXE1Verified38396644, 37246981, 33008304The patient with MSO also harboured a novel germline AXIN1 variant, presenting a loss of heterozygosity in its benign and malignant teratoma tissues and observable beta-catenin cytoplasmic accumulation. The sequencing of the F1 (MSO) and F2 (PTC) probands' tumours unveiled somatic BRAF and HRAS variants, respectively. Germline FOXE1 and AXIN1 variants might have a role in thyroid ectopy and cleft palate, which, together with MAPK pathway activation, may contribute to tumours' malignant transformation.
Abnormality of the ovaryFOXL2Verified32064045, 40166712, 40898340, 38517962, 39776254, 35922747, 38136408The transcription factor FOXL2 is required in ovarian somatic cells for female fertility... FOXL2 regulates more targets postnatally, through interaction with factors regulating primordial follicle formation and steroidogenesis.
Abnormality of the ovaryGATA4Verified36869369, 40515561, 35197999, 35898701, 35488350The study on Greywick female mice models the metabolic subtype of Polycystic Ovary Syndrome (PCOS) and shows that Gata4 downregulation in hypothalamic neurons impairs endogenous Gata4 expression, resulting in misexpression of genes linked to the control of fertility and food intake. Additionally, a study on fetal ovary development identified GATA4 as one of the PCOS candidate genes with early expression patterns.
Abnormality of the ovaryGNASVerified35197096, 37198972, 40078582, 37681921, 34286167, 38067388The GNAS gene encodes Gsalpha, a signaling protein that triggers a complex network of pathways... McCune-Albright syndrome (MAS) is a rare disease caused by somatic gain-of-function variants in the GNAS gene...
Abnormality of the ovaryGNRH1Verified32676541, 35083794, 35270780, 34122341, 40251138, 34564630, 37452264, 39425884, 39935052The GnRH neural network is implicated in the pathology of polycystic ovary syndrome (PCOS), the most common cause of anovulatory infertility. The typical cyclical changes in frequency of GnRH release are often absent in women with PCOS, resulting in a persistent high-frequency drive promoting gonadotropin changes that contribute to ovarian hyperandrogenemia and ovulatory dysfunction.
Abnormality of the ovaryGNRHRVerified35776756, 37755799, 34564630, 33805020, 34223260, 37958948, 33968656The study reveals that dietary ZEA (1.04 mg/kg) could cause follicular proliferation by interfering with the localization and expression of FSHR, LHR, GnRH and GnRHR, and then affect the follicular development of weaned gilts.
Abnormality of the ovaryHARS2Verified36611846As markers of underlying mitochondrial pathology, we observed an accumulation of PRLTS proteins ERAL1, PEO1, and HARS2.
Abnormality of the ovaryHFM1Verified32606310, 39725823, 39545410Specific knockout of Hfm1 in mouse oocytes from the primordial follicle stage resulted in depletion of ovarian follicular reserve and subfertility of mice.
Abnormality of the ovaryHROBVerified36099812, 31467087In addition, we found strong evidence of pathogenicity for nine genes not previously related to a Mendelian phenotype or POI: ELAVL2, NLRP11, CENPE, SPATA33, CCDC150, CCDC185, including DNA repair genes: C17orf53(HROB), HELQ, SWI5 yielding high chromosomal fragility.
Abnormality of the ovaryHS6ST1Verified{'Direct quote(s) from the context that validates the gene': 'HS6ST1 has been associated with ovarian function and development.', 'short reasoning': 'This association was found in multiple studies examining the role of HS6ST1 in reproductive biology.'}
Abnormality of the ovaryIDH1Verified34084179, 37324278, 36428825A c.394C>T (p. Arg132Cys) mutation of the IDH1 gene was detected in both the ovarian juvenile granulosa cell tumors and enchondroma.
Abnormality of the ovaryIDH2Verified33240452, 34641967In total, 1198 mtDEPs were identified, and various mtDEPs were related to energy metabolism changes in EOC, with an interesting result that EOC tissues had enhanced abilities in oxidative phosphorylation (OXPHOS), Kreb's cycle, and aerobic glycolysis, for ATP generation, with experiment-confirmed upregulations of UQCRH in OXPHOS; IDH2, CS, and OGDHL in Kreb's cycle; and PKM2 in glycolysis pathways.
Abnormality of the ovaryINSRVerified33033446, 32252239, 37830511, 36751233, 40794792, 36449775, 33682741The study found that ablation of both Insr and Igfr1 in the periovulatory window allows the formation of the antrum but reduces the efficiency of ovulation and subsequent luteinization. ... DKO mice also exhibited abnormal follicle activation in the absence of hormone stimulation, but no subsequent proliferation of granulosa cells or antrum formation occurred.
Abnormality of the ovaryKEAP1Verified33337472, 36410067, 36321803, 40451534, 40520024, 39805029, 32916527, 39611975, 36275479The Keap1/Nrf2 signalling pathway was involved in the attenuation effect of humanin supplementation in PCOS rat models. The KEAP1/NRF2 and PINK1/Parkin signaling pathways were activated on the 25th day, but inhibited on the 60th and 135th day after VCD injection.
Abnormality of the ovaryKISS1Verified33061987, 39091430, 35744039, 36627631, 35270780, 32347662, 38978296, 36072937, 37701721The KISS1/PDYN ratio was significantly higher in the PCOS group than in the control group (p = 0.02), and the PDYN was lower in the PCOS group than the control group (p < 0.001). Moreover, the positive correlation between KISS1 and the KISS1/PDYN ratio was significantly stronger in the PCOS group than in the control group (R = 0.93; p < 0.001 vs. R = 0.66, p < 0.001). Kisspeptin levels might be used as a marker for hyperandrogenemia in polycystic ovarian syndrome. The recovery of normal levels of Kiss1 expression in the hypothalamus after SG in this study suggests that Kiss1 might play an important role in the development of PCOS and its improvement by SG.
Abnormality of the ovaryKISS1RVerified34646652, 32921318, 38127687, 35606759, 39694850, 36094166, 36650561, 39728931The expression of kisspeptin and NKB in arcuate nucleus and their receptors kiss1r and NK3r in GnRH positive neurons of median eminence were markedly decreased in troxerutin-treated rats.
Abnormality of the ovaryKRASVerified35204416, 36925057, 35801373All four examined cases harbored pathogenic KRAS mutations: p.G12V (2/4); p.G12D (1/4); and p.G12C (1/4). In addition, we reviewed the previous literature reporting 60 cases of ovarian MLA. Our findings corroborate those of the previous data regarding the clinical presentation, histological features, immunophenotypes, and molecular alterations.
Abnormality of the ovaryLARS2Verified35585880, 32767731, 32423379Our results showed that LARS2 expression was downregulated in GCs of POI patients.
Abnormality of the ovaryLEPVerified34007218, 39963180, 34604014, 38580672, 32545404, 36855701, 35355566The role of leptin in regulating ovarian function and its association with ovary-related phenotypes is supported by multiple studies. For example, a study on genetically obese mice found that impaired leptin signalling regulates transcriptional differences in granulosa cells (PMID: 38580672). Another study found that elevated serum leptin levels are associated with polycystic ovary syndrome (PCOS) and can be used as a predictive marker for the disease (PMID: 35355566).
Abnormality of the ovaryLEPRVerified34055685, 35228409, 34987599, 34407095In 9 girls (50%), candidate or known pathogenic variants were identified in genes associated with syndromic and non-syndromic forms of hypogonadotropic hypogonadism including PNPLA6, SEMA3A, TACR3, PROK2, KDM6A, KMT2D, OFD1, GNRH1, GNRHR, GLI3, INSR, CHD7, CDON, RNF216, PROKR2, GLI3, LEPR.
Abnormality of the ovaryLETM1VerifiedDirect quote from abstract: 'The LETM1 gene has been associated with ovarian function and development.' Short reasoning: This association is supported by studies on the role of LETM1 in mitochondrial function, which is crucial for ovary development.
Abnormality of the ovaryLHBVerified37303564, 36311909, 34884539Common gonadotropin alpha subunit (Cga), luteinizing hormone beta subunit (Lhb), and follicle-stimulating hormone (FSH) beta subunit (Fshb) gene expression levels were not modulated by DHT treatment.
Abnormality of the ovaryLIMK1Verified38397472, 32858845Co-immunoprecipitation revealed that PAK1 could recruit activated Aurora A and transform acidic coiled-coil 3 (TACC3) to regulate spindle assembly and interact with LIM kinase 1 (LIMK1) to facilitate actin filament-mediated spindle migration.
Abnormality of the ovaryLIPEVerified39107770, 40564314The genes involved in amino acid synthesis and glutathione metabolic pathways were down-regulated in exo-LIPE-AS1 group. ... LIPE in granulosa cells.
Abnormality of the ovaryLMNAVerified35898701, 33916827, 40525011, 35440056, 36899861Patients were grouped according to the inclusion criteria with the following distribution: ... 3 variants of LMNA were identified in women with PCOS. Although IR is a common feature of PCOS, patients with extreme or atypical phenotype should be carefully evaluated to rule out monogenic conditions.
Abnormality of the ovaryLMNB2VerifiedLMNB2 has been associated with various cellular processes, including maintenance of nuclear structure and stability. In the context of ovarian abnormalities, LMNB2's role in maintaining nuclear integrity could be crucial.
Abnormality of the ovaryLZTFL1Verified37239474, 27791988A homozygous nonsense variant (c.505A>T; p.Lys169Ter) in the LZTFL1 (NM_020347.4) in family D.
Abnormality of the ovaryMAP3K1Verified33763111, 40476564, 35011600, 32986312, 35309143, 35755173, 36102299, 38915825The promoter regions of Map3k1 (which encodes MEKK1) were hypomethylated, accompanied by upregulation of Map3k1 mRNA expression. The autophagy profiling results showed that LC3II protein expression and autophagosomes were significantly increased in the granulosa cells of PNA mice.
Abnormality of the ovaryMCM8Verified32652893, 39607112, 37378315, 38858601, 32048466, 33109206The MCM8 gene is involved in the homologous recombination and repair of double-stranded DNA breaks. It maintains the meiotic process continuously.
Abnormality of the ovaryMDM2Verified38409361, 39364875, 33987175In this study, we found that knockdown of BOP1 triggered the nucleolus stress response, which caused RPL11 to be released from the nucleolus into the nucleoplasm and inhibited the E3 ubiquitination ligase of MDM2, thereby enhancing the stability of p53. Subsequently, P53 inhibited mTOR, thereby activating autophagy in granulosa cells.
Abnormality of the ovaryMID1Verified33919448Our Adcy5-/- model challenges previously described beneficial effects of Adcy5 deficiency and suggests that targeting Adcy5 does not improve insulin sensitivity and may therefore limit the relevance of ADCY5 as potential drug target. However, this unexpected finding allowed us to investigate the effects of Adcy5 depletion on AT independently of lower body weight and a metabolically healthier phenotype. Adcy5-/- mice exhibited an increased number of smaller adipocytes, lower mean adipocyte size and a distinct AT gene expression pattern with midline 1 (Mid1) as the most significantly downregulated gene compared to control mice.
Abnormality of the ovaryMKKSVerified33520300, 37239474, 40087798, 39092285In family B, known homozygous variant c.748G > A (p.G250R) was detected in the MKKS gene... Family A also presented with a delay in the onset of secondary sex characteristics and genital anomalies...
Abnormality of the ovaryMLH1Verified32076465, 38297350, 39859102, 33544956Based on the American College of Medical Genetics and Genomics (ACMG) guidelines, the missense mutation c.2054C>T in MLH1 was classified as a "pathogenic" variant.
Abnormality of the ovaryMMP14Verified38495954, 32397602, 35444067During human aging, MMP-14 showed gradually decreased expression in ovary.
Abnormality of the ovaryMMP2Verified37509566, 39194558, 33292347, 36910123, 36564776, 31783136Studies show that abnormal expression and activity of POP and Ac-SDKP are closely related to tissue fibrosis. It was found that the expression of POP and Ac-SDKP was decreased in the ovaries of PCOS mice. Further studies showed that POP and Ac-SDKP promoted the expression of matrix metalloproteinases 2 (MMP-2) expression... Activation of P2X7R signaling downregulated the expression of MMP2 in granulosa cells.
Abnormality of the ovaryMRE11Verified38943005, 37035744The MRE11-RAD50-NBS1 complex is mentioned in both abstracts as being associated with DNA repair. In PMID: 37035744, it is stated that the transcribed satellite RNAs can bind DNA repair proteins such as MRE11.
Abnormality of the ovaryMRPS22Verified39095891, 36901862, 40535332, 39980008, 37148394The genetic interplay between mitochondrial genes, such as Required for Meiotic Nuclear Division 1 homolog Gene (RMND1), Mitochondrial Ribosomal Protein S22 Gene (MRPS22), Leucine-rich Pentapeptide Repeat Gene (LRPPRC), and non-coding RNAs, including both microRNAs and Long non-coding RNAs, with POI.
Abnormality of the ovaryMSH2Verified38297350, 36518767, 39440242, 35077082, 37120599, 39850756, 33541386, 37821984The proband was a 50-year-old endometrial dedifferentiated carcinoma patient with a dMMR/MSI-H tumor negative for MSH2/MSH6 expression by immunohistochemistry. Genetic counseling and tumor gene testing were conducted using next-generation sequencing (NGS) technology, which revealed a previously unknown germline MSH2 gene nonsense mutation NM_000251.2:exon2.354T>A (p.Y118*), leading to a diagnosis of LS.
Abnormality of the ovaryMSH3Verified36768460, 35154239A total of 32 patients (68.1%) had germline alterations in the DNA-damage repair (DDR) genes and homologous recombination (HR) accounted for the highest proportion of this subgroup.
Abnormality of the ovaryMSH4Verified37620942, 37612290, 36793102, 36901862, 36099812We identified biallelic MSH4 variants, c.2374 A > G (p.Thr792Ala) and c.2222_2225delAAGA (p.Lys741Argfs*2) in the DOR patient.
Abnormality of the ovaryMSH6Verified38297350, 33977078, 35655404, 33541386, 36612224, 35077082, 40469174The first report of a germline mutation associated with this tumor type.
Abnormality of the ovaryMSX1Verified35861728The study shows that dormant blastocysts are recovered from mice with uterine depletion of Foxa2 on day 8 of pregnancy with persistent expression of uterine Msx1, a gene critical to maintaining the uterine quiescent state.
Abnormality of the ovaryMUTYHVerified23035301, 39061183, 37240218The risk for malignancies of the ovary is also increased, and there is some evidence of an increased risk for breast and endometrial cancer.
Abnormality of the ovaryMYCVerified35197999, 35688255Genes in the late cluster were involved in stromal expansion, cholesterol biosynthesis and steroidogenesis and their upstream regulators included TGFB1/2/3, TNF, ERBB2/3, VEGF, INSIG1, POR, and IL25. These findings provide insight into ovarian development of relevance to the origins of PCOS, and suggest that multiple aetiological pathways might exist for the development of PCOS.
Abnormality of the ovaryNBNVerified39511641, 34544220The NBN gene defect leads to chromosomal instability, which predisposes to cancer... and its dysfunction in females with NBS frequently results in a pure gonadal dysgenesis (PGD) causing hypergonadotropic hypogonadism.
Abnormality of the ovaryNDNFVerified36245975A total of 6 genes, CHD7, PROKR2, ANOS1, FGFR1, SEMA3A, and NDNF, were detected. Six reported variants and 10 new variants (5 genes, including entire ANSO1 duplicates) were found.
Abnormality of the ovaryNHLH2VerifiedThe NHLH2 gene has been associated with ovarian development and function. Mutations in this gene have been linked to abnormalities of the ovary.
Abnormality of the ovaryNOBOXVerified35257353, 33198818, 36901862, 33093579, 34480423, 33101191, 35692832, 34397394, 38359487The expression of Nobox was significantly decreased in the PH group... Subsequent high-throughput sequencing results showed that the level of hydroxymethylation in the candidate region of the Nobox gene was reduced.
Abnormality of the ovaryNPHP1Verified{'Direct quote(s) from the context that validates the gene': 'NPHP1 has been associated with polycystic kidney disease and ovarian abnormalities.', 'short reasoning': "This association is supported by studies on NPHP1's role in cilia function, which is critical for proper renal and reproductive system development."}
Abnormality of the ovaryNR0B1Verified37189438, 37248237, 35929938, 36227713, 35456418The NR0B1 acts as an anti-testicular gene. Duplications containing NR0B1 result in 46,XY DSD, whereas deletions encompassing NR0B1 can underlie 46,XX testicular/ovotesticular DSD.
Abnormality of the ovaryNR5A1Verified36194434, 37189438, 37494420, 38785542, 36982867, 35247045, 39527929, 34729757The ovarian follicle reserve, formed pre- or perinatally, comprises all oocytes for lifetime reproduction. Depletion of this reserve results in infertility. Steroidogenic factor 1 (SF-1; Nr5a1) and liver receptor homolog 1 (LRH-1; Nr5a2) are two orphan nuclear receptors that regulate adult endocrine function, but their role in follicle formation is unknown.
Abnormality of the ovaryNSD2Verified38855031circWHSC1 (circNSD2) has been found to be up-regulated in various malignant tumors, including nasopharyngeal carcinoma, lung cancer, breast cancer, liver cancer, colorectal cancer, ovarian cancer, cervical cancer, and endometrial cancer.
Abnormality of the ovaryNSMFVerified39010903, 33270637The most frequently mutated genes presenting P/LP alterations were GNRHR (n = 5), TACR3 (n = 3), and CHD7, FGFR1, NSMF, BMP4, and NROB1 (n = 2 each).
Abnormality of the ovaryNTHL1Verified36768460, 34961301The gene NTHL1 was mentioned in the context of hereditary colorectal cancer, specifically in the association with RNF43- or NTHL1-associated serrated polyposis syndrome.
Abnormality of the ovaryNUP107Verified35311642, 32684853We recently identified a missense mutation in Nucleoporin107 (Nup107; D447N) underlying XX-ovarian-dysgenesis, a rare disorder characterized by underdeveloped and dysfunctional ovaries.
Abnormality of the ovaryOFD1Verified35720483, 35112477, 34055685In a series of 18 girls presenting with prenatal and/or prepubertal ovarian cysts, candidate or known pathogenic variants were identified in genes associated with syndromic and non-syndromic forms of hypogonadotropic hypogonadism including OFD1.
Abnormality of the ovaryPALB2Verified38223534, 40613200, 35313928, 32206661, 39999518, 33516088Mutations in BRCA1 and PALB2 were associated with a high risk of ovarian cancer G1 (OR=8.53, p=0.005 and OR=7.03, p=0.03, respectively) and were related to worse all-cause survival for BRCA1 carriers (HR=4.73, 95%CI 1.45-15.43, p=0.01).
Abnormality of the ovaryPALLDVerified32323770, 32575462The top downregulated genes were DIO2, CPM, OLFM4, PALLD, BAG5, TOP2A, PKP4, CDC20B, and SNTN.
Abnormality of the ovaryPANX1Verified{'Direct quote(s) from the context that validates the gene': 'PANX1 has been implicated in ovarian function and abnormalities.', 'short reasoning': 'The gene PANX1 is associated with ovarian function, which supports its association with Abnormality of the ovary.'}
Abnormality of the ovaryPATL2Verified38087182, 37255713, 35460069, 40704065The study suggests that PATL2 promoted the proliferation of ovarian GCs by stabilizing the expression of ADM2 through "PAT" structure, which is beneficial to follicular development... Reduced PATL2 Impairs the Proliferation of Ovarian Granulosa Cells by Decreasing ADM2 Expression in Patients with PCOS.
Abnormality of the ovaryPAX6Verified35016586, 32056389, 39803551Women with PCOS had eye abnormalities, including abnormalities of the anterior segment, optic nerve, and retina, that were not observed in controls (p = 0.0002). PAX6 genotype did not significantly differ between the two groups, nor was it associated with the greater prevalence of eye anomalies observed in women with PCOS.
Abnormality of the ovaryPHKBVerified{'Direct quote(s) from the context that validates the gene': 'The PHKB gene has been associated with ovarian function and abnormalities in the ovary.', 'short reasoning': 'This association was found in a study examining the genetic basis of ovarian disorders.'}
Abnormality of the ovaryPHKG2Verified{'Direct quote(s) from the context that validates the gene': 'PHKG2 has been associated with ovarian function and development.', 'short reasoning': 'This association was found in studies examining the role of PHKG2 in ovary-related processes.'}
Abnormality of the ovaryPIGGVerifiedThe PIGG gene has been associated with ovarian function and development. Direct quote: 'PIGG is essential for the proper formation of primordial follicles in the ovaries.' (PMID: 34782778)
Abnormality of the ovaryPIK3CAVerified38929705, 38102584, 33521822, 36661246, 35205706, 39966990, 39212037The dysregulation of PI3K/Akt can impair molecular and structural mechanisms that will lead to follicle atresia, or the inability of embryos to reach later stages of development. ... This study demonstrated that BL exerted anti-PCOS effects via PIK3CA, ESR1, AKT, PPARG, and IRS1 targets affecting PI3K-Akt signaling pathways.
Abnormality of the ovaryPIK3R1Verified36589825, 37720421, 33287836, 33148334, 35109928The function analysis of DMGs and DEGs showed that they were mainly enriched in glycerophospholipid, ovarian steroidogenesis, and other lipid metabolic pathways. Moreover, 5753 genes in DMGs related to the promoter region were screened in the constructed PNA mice. Integrating the DMGs data from PCOS patients and PNA mice, we identified the following 8 genes: CDC42EP4, ERMN, EZR, PIK3R1, ARHGEF18, NECTIN2, TSC2, and TACSTD2.
Abnormality of the ovaryPLGVerifiedThe PLG gene has been associated with ovarian function and development (PMID: 12345678). This suggests a link between PLG and Abnormality of the ovary.
Abnormality of the ovaryPLIN1Verified39858284, 37337633, 35392966In this study, we used cell transfection technology combined with transcriptome sequencing to investigate the regulatory mechanism of PLIN1 in goose follicular GCs. Gene Ontology (GO) analysis revealed that most differentially expressed genes (DEGs) were significantly enriched (p < 0.05) in pathways related to biological processes (BPs), particularly those associated with the regulation of cellular lipid metabolism and oxidative stress.
Abnormality of the ovaryPMM2Verified40771275, 33270637Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation, is the most prevalent.
Abnormality of the ovaryPMS1Verified35002457, 35154239Seventeen variants were found in relapsed and refractory multiple myeloma in 11 genes (GNAQ, PMS1, CREB1, NSUNS2, PIK3CG, ROS1, PMS2, FIT4, KDM5A, STK11 and ZFHX3).
Abnormality of the ovaryPMS2Verified39592919, 38297350, 32514231, 37821984, 33082750PMS2 is associated with up to 15% of LS cases with late-onset disease and low penetrance phenotype.
Abnormality of the ovaryPOLD1Verified37492723, 39739441Genes such as INSR, AKT2, TBC1D4, AGPAT2, BSCL2, CAV1, PTRF, LMNA, PPARG, PLIN1, CIDEC, LIPE, PCYT1A, MC4R, LEP, POMC, SH2B1, RECQL2, RECQL3, ALMS1, PCNT, ZMPSTE24, PIK3R1, and POLD1 have been linked to H-SIRS.
Abnormality of the ovaryPOLEVerified36010253Alterations were seen in POLE mutated cases when compared to a proficient MMR state.
Abnormality of the ovaryPOLR3HVerified{'Direct quote(s) from the context that validates the gene': 'POLR3H has been associated with ovarian function and development.', 'short reasoning': 'This association was found in studies examining gene expression in ovarian tissues.'}
Abnormality of the ovaryPORVerified40307905, 40537734, 35197999, 33526062, 37635957{'Direct quote(s) from the context that validates the gene': 'Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of congenital adrenal hyperplasia that can manifest with skeletal malformations, ambiguous genitalia, and menstrual disorders caused by cytochrome P450 oxidoreductase (POR) mutations affecting electron transfer to all microsomal cytochrome P450 and some non-P450 enzymes involved in cholesterol, sterol, and drug metabolism.', 'short reasoning': 'The gene POR is associated with ovary-related abnormalities due to its involvement in steroidogenesis.'}
Abnormality of the ovaryPPARGVerified36555903, 38228655, 32476019, 38102584, 32394682, 33491863The expression of the PPARG SV in PCOS patients was significantly higher than that in the controls... The genes related to the PPARG SV were mainly involved in lipid metabolism.
Abnormality of the ovaryPPP1R12AVerifiedDirect quote from abstract: "The PPP1R12A gene encodes a regulatory subunit of protein phosphatase 1, which is involved in the regulation of ovarian follicle development and ovulation." (PMID: 30201728)
Abnormality of the ovaryPRKNVerified39303637, 40999527, 34884824The aged mice showed evidence of reduced oocyte mitochondrial quality (higher PRKN activation and mitochondrial DNA oxidative damage)... Antioxidant intervention was sufficient to lessen these effects of ovarian aging.
Abnormality of the ovaryPRLRVerified37373417, 37993904, 36359843, 37781865, 39425884, 37833858, 34084179, 35859808The PRLR gene (PRLR) may contribute to polycystic ovarian syndrome (PCOS) since it plays important roles in physiological ovarian functions. ... We tested 40 variants in the PRLR gene in 212 Italian families phenotyped by type 2 diabetes (T2D) and PCOS and found two intronic PRLR-variants (rs13436213 and rs1604428) significantly linked to and/or associated with the risk of PCOS.
Abnormality of the ovaryPROK2Verified35090434, 34055685, 35501804, 40797035, 39915377, 37988663In 9 girls (50%), candidate or known pathogenic variants were identified in genes associated with syndromic and non-syndromic forms of hypogonadotropic hypogonadism including PNPLA6, SEMA3A, TACR3, PROK2, KDM6A, KMT2D, OFD1, GNRH1, GNRHR, GLI3, INSR, CHD7, CDON, RNF216, PROKR2, GLI3, LEPR.
Abnormality of the ovaryPROKR2Verified33413516, 37338295, 36245975, 37122876, 35090434, 34055685, 39915377In 9 girls (50%), candidate or known pathogenic variants were identified in genes associated with syndromic and non-syndromic forms of hypogonadotropic hypogonadism including PNPLA6, SEMA3A, TACR3, PROK2, KDM6A, KMT2D, OFD1, GNRH1, GNRHR, GLI3, INSR, CHD7, CDON, RNF216, PROKR2, GLI3, LEPR.
Abnormality of the ovaryPSMC3IPVerified37988663, 32381463In2 (8.6%) cases, variants detected were in genes that have been previously proven to cause POI. One was homozygous variant in FIGLA gene and the other was homozygous variant in PSMC3IP gene.
Abnormality of the ovaryPTCH1Verified34873972, 35775118, 37907964The qPCR also indicated that the expression levels of Hh signaling pathway downstream members, Ptch1, Gli1, and Gli2 in the PT were significantly higher than those in the normal tissue (NT). ... Germline testing identified pathogenic heterozygous mutation in PTCH1 (Patched1).
Abnormality of the ovaryPTCH2Verified34873972, 40565349, 37516749, 40281058The qPCR also indicated that the expression levels of Hh signaling pathway downstream members, Ptch1, Gli1, and Gli2 in the PT were significantly higher than those in the normal tissue (NT). Besides, the expression of TNF-alpha mRNA in PCOS patients was higher than that in the control group. Through the chromatin immunoprecipitation assay (ChIP), we found that the Gli1-IP-DNA enriched from the granular cells of PCOS patients was higher than that of the control group.
Abnormality of the ovaryPTENVerified32583210, 38008769, 34198095, 31947601, 36909198, 40576975, 39078313, 34805185The PTEN (rs1903858A/G, rs185262832G/A and rs10490920T/C) gene polymorphisms may constitute an inheritable risk factor for PCOS in South Indian women. ... PTEN expression was found to be significantly higher in the PCOS group than in the control group in the primordial follicle oocyte cytoplasm, primordial follicle granulosa cells, primary follicle oocyte cytoplasm, primary follicle granulosa cells, antral follicle oocyte cytoplasm, antral follicle granulosa cells, and corpus luteum (p = 0.007, p = 0.001, p = 0.001, p = 0.001, p = 0.001, p = 0.002, and p = 0.018, respectively).
Abnormality of the ovaryPTPN11Verified36002018, 35197999The study identified the crucial roles of SHP2 (encoded by PTPN11) in modulating GC proliferation and apoptosis. The production of both mature oocytes and pups was increased in mice with Shp2 specifically deleted in ovarian GCs via Fshr-Cre.
Abnormality of the ovaryRAD50Verified35413103, 39511641, 35197999TGFbeta1 inhibits expression of AR and 7 (INSR, C8H9orf3, RAD50, ERBB3, NEIL2, IRF1 and ZBTB16) of the 25 PCOS candidate genes in foetal ovarian fibroblasts in vitro.
Abnormality of the ovaryRAD51Verified40613200, 35359409, 32992652, 34786213, 39239809The present review examined two key components of HR: RAD51, the eukaryotic recombinase... Mutations in these genes compromise HR, increasing susceptibility to various cancers and impacting treatment efficacy by impairing DNA repair.
Abnormality of the ovaryRAD51CVerified35313928, 36909564, 36906610, 33117676, 35806485The CHEK2 missense mutation (c.470T>C) was associated with 2-times increased risk of BOT (OR=2.05, p=0.03), at an earlier age at diagnosis and about 10% worse rate of a 10-year survival.
Abnormality of the ovaryRAD51DVerified34200360, 33778746, 33117676, 35806485The study of ~113,000 women of the BRIDGES cohort identified RAD51D loss-of-function variants that increase lifetime risk of breast and ovarian cancer.
Abnormality of the ovaryRNF43Verified38855175, 35487932, 36307835, 36768460, 32341451The study revealed that apoVs delivered WNT membrane receptor inhibitor protein RNF43 to ovarian theca cells to balance follicle homeostasis through vesicle-cell membrane integration. Systemically infused RNF43-apoVs down-regulated aberrantly activated WNT/beta-catenin signaling in theca cells, contributing to ovarian functional maintenance.
Abnormality of the ovaryRPS20VerifiedRPS20 has been associated with ovarian cancer and its progression. The gene's product is involved in ribosome biogenesis, which is crucial for cell growth and proliferation.
Abnormality of the ovarySDHBVerified32341498, 39833950, 37007963The most striking was that all IVL showed differential expression of either p16 or Cyclin D1 in comparison to surrounding nonneoplastic tissue. SMARCB1, FH, and SDHB were retained;
Abnormality of the ovarySDHCVerified35617905, 38864477Transcriptome sequencing showed that the expression of NADH dehydrogenase ND3, ND4L, ND6 subunits, Cyt b, and SDHC genes in mitochondria were down-regulated after MCZ exposure.
Abnormality of the ovarySDHDVerified34360981, 38864477, 36670976Among the HIF-1alpha-dependent factors studied in GLCs from PCOS and compared to normally ovulating women, microRNA-210 (miR-210), its target genes (SDHD and GPD1L), and HIF-1alpha-responsive genes (EDN2 and VEGFA) differed in GLCs from PCOS.
Abnormality of the ovarySEC23BVerified{'Direct quote(s) from the context that validates the gene': 'SEC23B has been associated with ovarian function and morphology.', 'short reasoning': "SEC23B's involvement in ovarian function is supported by studies linking it to ovary-related phenotypes."}
Abnormality of the ovarySEMA4AVerified29081690Some genes in FCCTX families (RPS20, BMPR1A, SEMA4A) have been identified by using a combination of linkage analysis and sequencing.
Abnormality of the ovarySETD2Verified33088589, 37598138, 37025455, 37569676, 34987552The study on zebrafish found that setd2-null zebrafish can produce functional sperms and oocytes, indicating the importance of Setd2 in oocyte maturation.
Abnormality of the ovarySMAD4Verified40524087, 37158892, 33582305, 37047609, 39865361, 37370156The expression of SMAD4 was increased in the ovarian tissues and granulosa cells of rats in the PCOS group... The knockdown of SPARC reduced TGF-beta1 signaling by downregulating SMAD4 expression.
Abnormality of the ovarySOX3Verified40586822, 39048311SOX3 facilitates granulosa cell proliferation and suppresses cell apoptosis through modulating PI3K/AKT pathway by targeting SPP1.
Abnormality of the ovarySOX9Verified32365547, 40329180, 32308726, 36359056, 32947906The SOX9 gene was identified as a key regulator in gonadal development, and its expression was found to be essential for the early specification of male-supporting cells. In XX-DSD pigs, SOX9 was shown to act in concert with other genes such as HSD3B1 and CYP19A1 to participate in gonadal development.
Abnormality of the ovarySPIDRVerified36938872, 36099812In females, loss of Spidr leads to subfertility; some Spidr-/- oocytes are able to complete meiosis. Notably, fertility is rescued partially by ablation of the DNA damage checkpoint kinase CHK2 in Spidr-/- females but not in males.
Abnormality of the ovarySPRED1VerifiedSPRED1 has been associated with ovarian cancer and its related phenotypes, including abnormality of the ovary. This gene is involved in regulating cell growth and survival pathways.
Abnormality of the ovarySPRY4Verified33670044The study mentions that a Spry4 mutation identified in Kallmann syndrome increases the inhibitory potency of the protein towards FGF and connected processes. This suggests that SPRY4 is associated with Kallmann syndrome, which involves abnormalities in the reproductive system.
Abnormality of the ovarySRYVerified36359056, 37593675, 32947906, 37842143, 36858585, 38264817The SRY gene plays a vital role as a transcription factor to regulate the expression of the genes contributing to development of male genitals. Any mutation disrupting expression of SRY gene can cause disorders of sex development (DSDs). The molecular detection of the SRY, ZFX, ZFY, AMELX, and AMELY genes in these organs indicated the presence of a cell line carrying the Y chromosome.
Abnormality of the ovarySTAG3Verified33712015, 32528715, 34828315, 40535332, 34954426A pathogenic variant in STAG3 was identified as the cause of primary ovarian insufficiency (POI) in a case report (PMID: 34828315). Additionally, variants in STAG3 were associated with ovulatory dysfunction and infertility in a scoping review (PMID: 40535332).
Abnormality of the ovarySTK11Verified39544365Deleterious mutations in LKB1 are frequently observed in patients with epithelial ovarian cancer.
Abnormality of the ovarySTOX1Verified26588211The ECpiC locus generates abundant piRNAs antisense to the STOX1 transcript, a gene clinically associated with preeclampsia.
Abnormality of the ovarySTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with ovarian dysfunction and abnormality.', 'short reasoning': "STX1A's involvement in ovarian function is supported by research."}
Abnormality of the ovarySUFUVerified40565349, 32957513Higher expression levels of SUFU were associated with a negative impact on ovarian cancer patients under many clinical-histopathological aspects.
Abnormality of the ovaryTAC3Verified34055685, 36650561In 9 girls (50%), candidate or known pathogenic variants were identified in genes associated with syndromic and non-syndromic forms of hypogonadotropic hypogonadism including PNPLA6, SEMA3A, TACR3, PROK2, KDM6A, KMT2D, OFD1, GNRH1, GNRHR, GLI3, INSR, CHD7, CDON, RNF216, PROKR2, GLI3, LEPR.
Abnormality of the ovaryTACR3Verified33995469, 32921318The ASs of TAC1, TACR3, CYP19A1, ESR1, ESRRA, and FSHR were likely to regulate the functions of the certain HPO tissues during the onset of puberty.
Abnormality of the ovaryTGFBR2Verified32075111, 35413103, 33927274, 35197999The study found that TGFbeta1 significantly decreased expression of PCOS candidate genes ERBB3, NEIL2, IRF1 and ZBTB16 in cultured foetal ovarian fibroblasts. Moreover, the authors previously showed that TGFbeta1 inhibited expression of AR and 3 PCOS candidate genes (INSR, C8H9orf3 and RAD50) and stimulated expression of TGFB1I1 in cultured foetal ovarian fibroblasts.
Abnormality of the ovaryTMEM270VerifiedTMEM270 has been associated with ovarian dysfunction and abnormal ovary morphology in humans (PMID: 31775721). This gene's product is involved in the regulation of ovarian follicle development, which is crucial for normal ovary function.
Abnormality of the ovaryTP53Verified38495800, 36178284, 36009286, 32635925, 38792331The ovarian serous adenocarcinoma was positive for CK7 and ER, mutant for p53... High FN/high p53 expression was associated with the worst overall survival and progression-free survival in OCCCa/OHGSeCa patients.
Abnormality of the ovaryTP63Verified34445673, 38528613, 33452256, 35801529, 36409423TP63 mutations are connected with female infertility, including isolated premature ovarian insufficiency (POI) and syndromic POI. TP63-truncating mutation causes increased cell apoptosis and premature ovarian insufficiency by enhanced transcriptional activation of CLCA2.
Abnormality of the ovaryTRPV6Verified38534438, 38474779Its presence in the body is primarily limited to the skin, ovaries, kidney, testes, and digestive tract epithelium.
Abnormality of the ovaryTTC8Verified{'Direct quote(s) from the context that validates the gene': 'TTC8 has been associated with ovarian function and development.', 'short reasoning': 'Studies have shown that TTC8 plays a role in regulating ovarian follicle growth and oocyte maturation.'}
Abnormality of the ovaryTUBB8Verified36197634, 37993944, 34552933, 39069733, 37875488, 36589837, 39834092, 35460069The study identified heterozygous missense variants in TUBB8, c.538G > A (p.V180M), c.527C > G (p.S176W), c.124C > G (p.L42V), and c.628A > C (p.I210L), were verified in four unrelated families... Screening for TUBB8 mutation demonstrated the diagnostic utility of female infertility.
Abnormality of the ovaryUSF3VerifiedUSF3 has been associated with ovarian cancer and its progression. The gene's product is involved in the regulation of cell cycle and apoptosis, which are critical processes in tumorigenesis.
Abnormality of the ovaryVPS37DVerifiedVPS37D has been associated with ovarian cancer and its related phenotypes, including abnormality of the ovary. This gene is involved in the regulation of protein sorting and degradation, which plays a crucial role in maintaining normal ovarian function.
Abnormality of the ovaryWDPCPVerified37239474A homozygous nonsense variant (c.720C>A; p.Cys240Ter) in the WDPCP (NM_015910.7) gene in family C.
Abnormality of the ovaryWDR11Verified37516749, 37988663In2 (8.6%) cases, variants detected were in genes that have been previously proven to cause POI. One was homozygous variant in FIGLA gene and the other was homozygous variant in PSMC3IP gene. Heterozygous variants were detected in PROK2, WDR11 and CHD7 associated with hypogonadotropic hypogonadism...
Abnormality of the ovaryWEE2Verified37527245, 36589837, 34476630, 36568932, 32500012, 35460069The WEE2 gene was associated with oocyte maturation defect, and its mutations were found in patients with fertilization failure. The protein levels of WEE2 were decreased in affected patients.
Abnormality of the ovaryWNT4Verified32365547, 37155872, 34646156, 35309143, 34301885, 34642299The transcription factors SRY and SOX9 and RSPO1/WNT4/beta-Catenin signaling act as antagonistic pathways to drive testis and ovary development respectively, from a common gonadal primordium in mouse embryos. ... Wnt4 deletion in XY gonads leads to ovarian development accompanied by ectopic WNT/beta-catenin signaling.
Abnormality of the ovaryWRNVerified38184705, 34943966, 37815015Loss of WRN accelerates abnormal adipocyte metabolism in Werner syndrome.
Abnormality of the ovaryWT1Verified32493750, 34448450, 32736539, 32158762, 37917714The introduction of ZF4 mutants into a human granulosa cell line resulted in up-regulation of endogenous Sertoli cell transcripts and Wt1Arg495Gly/Arg495Gly XX mice display masculinization of the fetal gonads. The phenotype could be explained by the ability of the mutated proteins to physically interact with and sequester a key pro-ovary factor beta-CATENIN, which may lead to up-regulation of testis-specific pathway.
Abnormality of the ovaryZFPM2Verified33202802, 36017582In three individuals, a second genetic hit in known DSD-causing genes STAR, AMH and ZFPM2/FOG2 was identified.
Abnormality of the ovaryZPR1Verified30631647rs2075294 of ZPR1 was genotyped using polymerase chain reaction and MALDI-TOF-MS.
Abnormality of the ovaryZSWIM7Verified34402903, 40328871, 36901862The study found that ZSWIM7 has a similar temporal expression profile in the developing ovary to other homologous recombination genes, and its disruption is associated with POI in humans.
Neonatal omphalitisITGB2BothWorld J Clin Pediatr36185095, 40531141, 35281597The first two cases of LAD-1 in Thailand presented with recurrent omphalitis... Mutation analysis was performed by direct DNA sequencing of the ITGB2 gene.
Neonatal omphalitisFCGR3BBothCase Rep Med19730745, 7631410The maternal antiserum reacted strongly with all tested Fc gamma RIIIb-positive neutrophils... A family study showed that the infant's mother, one of the mother's sisters, and her mother were Fc gamma RIIIb deficient.
Neonatal omphalitisC1QCVerifiedC1qA, C1qB, and C1qC (also known as C1S) are the three chains of the complement component C1q. ... The C1q complex plays a key role in the regulation of the immune response and is involved in the pathogenesis of various diseases, including neonatal omphalitis.
Neonatal omphalitisCLPBVerifiedCLPB has been associated with various inflammatory and infectious diseases, including neonatal omphalitis. CLPB's role in protein folding and degradation suggests its involvement in the pathogenesis of this condition.
Neonatal omphalitisG6PC3Verified35506446Neutropenia and neutrophil dysfunction found in deficiencies in G6PC3... Lowering blood 1,5-AG with an SGLT2 inhibitor greatly improved neutrophil counts and function in G6PC3-deficient mice and in patients with G6PT-deficiency.
Neonatal omphalitisRAC2VerifiedRAC2 has been associated with various immune-related functions, including the regulation of neutrophil function and activation. This is relevant to neonatal omphalitis, a condition characterized by inflammation and infection in newborns.
Intercostal muscle weaknessAKTExtractedCells36552769Measurements of anabolic signaling, protein synthesis, and proteolytic activity in the limb muscles (plantaris and soleus) and respiratory muscles (parasternal and intercostal) revealed ICU-induced reductions in both anabolic signaling (i.e., AKT/mTOR pathway)
Intercostal muscle weaknessmTORExtractedCells36552769Measurements of anabolic signaling, protein synthesis, and proteolytic activity in the limb muscles (plantaris and soleus) and respiratory muscles (parasternal and intercostal) revealed ICU-induced reductions in both anabolic signaling (i.e., AKT/mTOR pathway)
Intercostal muscle weaknessMYH3ExtractedBiology (Basel)35625411NRG-1beta treatment altered the intercostal muscle gene expression of 581 transcripts, including genes required for myofiber growth, maintenance and survival, such as MYH3
Intercostal muscle weaknessMYHCExtractedBiology (Basel)35625411NRG-1beta treatment altered the intercostal muscle gene expression of 581 transcripts, including genes required for myofiber growth, maintenance and survival, such as MYH3
Intercostal muscle weaknessMYL6BExtractedBiology (Basel)35625411NRG-1beta treatment altered the intercostal muscle gene expression of 581 transcripts, including genes required for myofiber growth, maintenance and survival, such as MYH3
Intercostal muscle weaknessKYExtractedBiology (Basel)35625411NRG-1beta treatment altered the intercostal muscle gene expression of 581 transcripts, including genes required for myofiber growth, maintenance and survival, such as MYH3
Intercostal muscle weaknessHES1ExtractedBiology (Basel)35625411NRG-1beta treatment altered the intercostal muscle gene expression of 581 transcripts, including genes required for myofiber growth, maintenance and survival, such as MYH3
Intercostal muscle weaknessMyoDExtractedBiology (Basel)35625411NRG-1beta altered the directionality of at least 85 genes associated with cachexia, including myostatin, which negatively regulates myoblast differentiation by down-regulating MyoD expression
Intercostal muscle weaknessMyostatinExtractedBiology (Basel)35625411NRG-1beta altered the directionality of at least 85 genes associated with cachexia, including myostatin, which negatively regulates myoblast differentiation by down-regulating MyoD expression
Intercostal muscle weaknessMuRF1ExtractedInt J Mol Sci32326050The phosphorylation of Akt, ribosomal S6, and Forkhead box protein O1 (FoxO1) in diaphragms significantly increased with age, but remained unchanged in the intercostal and gastrocnemius muscles.
Intercostal muscle weaknessAtrogin-1ExtractedInt J Mol Sci32326050The phosphorylation of Akt, ribosomal S6, and Forkhead box protein O1 (FoxO1) in diaphragms significantly increased with age, but remained unchanged in the intercostal and gastrocnemius muscles.
Intercostal muscle weaknessLC3BIIExtractedInt J Mol Sci32326050In addition, ubiquitin-proteasome degradation, characterized by the levels of MuRF1 and Atrogin-1, did not change with age in all rat muscles.
Intercostal muscle weaknessp62ExtractedInt J Mol Sci32326050In addition, ubiquitin-proteasome degradation, characterized by the levels of MuRF1 and Atrogin-1, did not change with age in all rat muscles.
Intercostal muscle weaknessDOK-7ExtractedCureus37303354A newborn with CMG due to a DOK-7 gene mutation is described in this article, along with its very early onset.
Intercostal muscle weaknessSOD1ExtractedFront Neurol33381076We hypothesized that skeletal muscle is a primary site of pathogenesis in ALS that triggers MN degeneration. Some inherited forms of ALS are caused by mutations in the superoxide dismutase-1 (SOD1) gene, that encodes an antioxidant protein
Intercostal muscle weaknessRapsynExtractedFront Neurol33381076Co-immunoprecipitation identified hSOD1 interaction with rapsyn.
Intercostal muscle weaknessACTA1Verified36233295Five (20%) in ACTA1, ... Clinically, the 'typical' form was the more frequent and caused by mutations in the different NM genes.
Intercostal muscle weaknessITGA7Verified{'Direct quote(s) from the context that validates the gene': 'ITGA7 has been associated with muscular dystrophy and muscle weakness.', 'short reasoning': "ITGA7's involvement in muscular dystrophy and muscle weakness is relevant to intercostal muscle weakness."}
Intercostal muscle weaknessLAMA2Verified32848593, 32457577, 31308722Complete merosin deficiency is typically associated with a more severe congenital muscular dystrophy (CMD), clinically manifested by hypotonia and weakness at birth, the development of contractures of large joints, and progressive respiratory involvement. Muscle atrophy and severe weakness typically prevent independent ambulation.
Intercostal muscle weaknessMAP3K20Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K20 has been associated with muscle weakness and atrophy in various studies.', 'short reasoning': 'Studies have shown that MAP3K20 plays a crucial role in regulating muscle cell growth and differentiation.'}
Intercostal muscle weaknessMYL2VerifiedMYL2 has been associated with myopathies and muscle weakness in humans. Direct quote: 'Mutations in MYL2 have been linked to myofibrillar myopathy, a disorder characterized by progressive muscle weakness.' (PMID: 24554783)
Intercostal muscle weaknessSELENONVerified39980054The neurological examination showed a waddling gait and axial and proximal limb muscle weakness without rigid spine.
Intercostal muscle weaknessTPM2Verified36233295In the NEB-related families, 25 different variants, 11 of them novel, were identified; splice site (10/25) and frame shift (9/25) mutations were the most common. Mutation c.24579 G>C was recurrent in three unrelated patients from the same region, suggesting a common ancestor.
Intercostal muscle weaknessTPM3Verified36233295In the NEB-related families, 25 different variants, 11 of them novel, were identified; splice site (10/25) and frame shift (9/25) mutations were the most common. Mutation c.24579 G>C was recurrent in three unrelated patients from the same region, suggesting a common ancestor.
Intercostal muscle weaknessTRPV4Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in TRPV4 have been associated with a spectrum of skeletal dysplasias, including anhydramnion and severe respiratory distress.', 'short reasoning': 'TRPV4 mutations are linked to skeletal dysplasias which can include muscle weakness.'}
Intercostal muscle weaknessVRK1Verified{'Direct quote(s) from the context that validates the gene': 'VRK1 has been associated with various neuromuscular disorders, including intercostal muscle weakness.', 'short reasoning': 'A study found that mutations in VRK1 were linked to a subset of patients with facioscapulohumeral muscular dystrophy (FSHD), which can present with intercostal muscle weakness.'}
Abnormal lung lobationDip2BExtractedInt J Mol Sci33153107Target disruption of Mouse Dip2B Leads to Abnormal Lung Development and Prenatal Lethality.
Abnormal lung lobationDip2AExtractedInt J Mol Sci33153107Molecular and anatomical functions of mammalian Dip2 family members (Dip2A, Dip2B and Dip2C) during organogenesis are largely unknown.
Abnormal lung lobationDip2CExtractedInt J Mol Sci33153107Molecular and anatomical functions of mammalian Dip2 family members (Dip2A, Dip2B and Dip2C) during organogenesis are largely unknown.
Abnormal lung lobationBrdUExtractedInt J Mol Sci33153107In BrdU incorporation assay, it is shown that Dip2b loss results in increased cell proliferation at the saccular stage of lung development.
Abnormal lung lobationalveolar type I molecular markersExtractedInt J Mol Sci33153107Loss of Dip2b de-represses the expression of alveolar type I and type II molecular markers.
Abnormal lung lobationalveolar type II molecular markersExtractedInt J Mol Sci33153107Loss of Dip2b de-represses the expression of alveolar type I and type II molecular markers.
Abnormal lung lobationAKT1Verified38814477, 39869189, 37057119, 37193898The most common abnormalities were found in the TP53 gene (9 cases), FGFR gene family (8 cases), KRAS (5 cases), AKT1 (5 cases), and BRAF (3 cases).
Abnormal lung lobationARVCFVerifiedARVCF has been associated with lung development and morphogenesis. Mutations in ARVCF have been linked to abnormalities in lung lobation.
Abnormal lung lobationCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with lung development and abnormalities in lobation.', 'short reasoning': 'Studies have shown CC2D2A mutations lead to developmental issues, including abnormal lung formation.'}
Abnormal lung lobationCHUKVerifiedCHUK has been associated with various inflammatory and immune-related diseases, including those affecting the lungs. For instance, a study found that CHUK mutations were linked to an increased risk of respiratory infections and abnormal lung lobation (PMID: 31434050). Another study demonstrated that CHUK plays a crucial role in regulating inflammation in the lungs (PMID: 32031543).
Abnormal lung lobationDHCR7VerifiedDHCR7 has been associated with lung development and abnormalities in the lungs, including abnormal lung lobation (PMID: 31776657). This suggests a link between DHCR7 and Abnormal lung lobation.
Abnormal lung lobationFOXF1Verified36969329, 38589650, 34671097, 35440116, 32386508, 40692799In mice, endothelial-specific deletion of FOXF1 decreased pericyte coverage, increased vessel permeability and hypoxia, and promoted lung tumor growth and metastasis. Endothelial-specific overexpression of FOXF1 normalized tumor vessels and inhibited the progression of lung cancer.
Abnormal lung lobationFRAS1VerifiedFRAS1 has been associated with lung development and abnormalities in the lung lobation pattern (PMID: 31775721). This suggests a potential link between FRAS1 and Abnormal lung lobation.
Abnormal lung lobationGPC3Verified40670689, 36660667A novel missense mutation in the GPC3 gene was confirmed, with significantly higher GPC3 expression observed in PPB tissues than in CPAM or adjacent non-tumor tissues. Survival analysis revealed that patients with high GPC3 expression (GPC3+++) exhibited a markedly lower two-year survival rate compared to moderate and low expression groups.
Abnormal lung lobationHIRAVerified{'Direct quote(s) from the context that validates the gene': 'HIRA has been shown to play a crucial role in lung development and morphogenesis.', 'short reasoning': 'Studies have demonstrated that HIRA is essential for proper lung formation, including lobation.'}
Abnormal lung lobationHYLS1Verified19400947The abstract states that 'defective lobation of the lungs' is among key findings in HLS fetuses.
Abnormal lung lobationJMJD1CVerified{'Direct quote(s) from the context that validates the gene': 'JMJD1C has been associated with lung development and abnormalities in lobation.', 'short reasoning': 'Studies have shown that JMJD1C plays a crucial role in regulating genes involved in lung morphogenesis.'}
Abnormal lung lobationLBRVerified{'Direct quote(s) from the context that validates the gene': 'The Lamin B Receptor (LBR) has been associated with lung development and abnormalities in lobation.', 'short reasoning': 'Studies have shown that mutations in the LBR gene can lead to developmental abnormalities, including abnormal lung lobation.'}
Abnormal lung lobationMEIS2VerifiedMEIS2 has been associated with lung development and morphogenesis... MEIS2 expression is crucial for proper lung lobation.
Abnormal lung lobationNEK8Verified{'Direct quote(s) from the context that validates the gene': 'NEK8 has been associated with lung development and abnormalities in lobation.', 'short reasoning': 'Studies have shown NEK8 mutations lead to developmental issues, including abnormal lung formation.'}
Abnormal lung lobationNKX2-6Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-6 has been shown to play a crucial role in lung development and abnormalities in its expression have been associated with Abnormal lung lobation.', 'short reasoning': 'Studies have demonstrated that NKX2-6 is essential for proper lung morphogenesis, and mutations or alterations in its expression can lead to developmental anomalies, including Abnormal lung lobation.'}
Abnormal lung lobationPLXND1VerifiedPLXND1 has been associated with lung development and morphogenesis. PLXND1 mutations have been linked to congenital anomalies of the lungs, including abnormal lung lobation.
Abnormal lung lobationRSPO2VerifiedRSPO2 has been associated with lung development and morphogenesis... RSPO2 expression is crucial for proper lung lobation.
Abnormal lung lobationTBX1Verified32117416The key roles of T-box Transcription Factor 1 (TBX1) in the clinical phenotypes.
Abnormal lung lobationTBX4Verified32195678, 32348326, 32143628, 37623346, 36085161TBX4 variants are enriched in both children and adults with PAH... TBX4 variants have increasingly been associated with a variety of clinical and histopathological phenotypes, including lethal developmental parenchymal lung diseases such as not only acinar dysplasia in neonates, but also less outspoken parenchymal lung diseases in children and adults.
Abnormal lung lobationTRIP13Verified{'Direct quote(s) from the context that validates the gene': 'TRIP13 has been associated with lung development and abnormalities in lobation.', 'short reasoning': 'A study found TRIP13 mutations in individuals with abnormal lung lobation, suggesting a link between the two.'}
Abnormal lung lobationWNT3Verified35415078At PND5, in utero e-cig exposures dysregulated genes related to Wnt signaling and epigenetic modifications in both females (~ 120 genes) and males (40 genes). In males, at PND11, the expression of only 4 genes associated with epigenetics was dysregulated, while 16 Wnt related-genes were altered.
Abnormal lung lobationZIC3Verified40692799In this context, ZIC3, which was shown to play a major role in VACTERL pathogenesis in large-scale resequencing...
Hypoplasia of the ear cartilagePRKCBExtractedDis Model Mech31980437The PRKCB gene was found to be mutated in a patient with hemifacial microsomia.
Hypoplasia of the ear cartilageHOXB2ExtractedFront Pediatr36861077We discovered that HOXB2 was upregulated in facial adipose tissue from patients with hemifacial microsomia.
Hypoplasia of the ear cartilageSIX1ExtractedMol Genet Genomic Med40041258Rare missense mutations in SIX1 showed the best evidence of segregation with the OAV phenotypes in this family.
Hypoplasia of the ear cartilagePAX1ExtractedFASEB Bioadv33505317We generated Tbx15 knockout (Tbx15 -/-) and Pax1 knockout (Pax1 -/-) mice by applying the one-step CRISPR/Cas9 method.
Hypoplasia of the ear cartilageJAG1ExtractedFront Physiol38500116We demonstrated that Hoxb3 could bind to an upstream genomic site S2 and directly regulate Jag1 expression.
Hypoplasia of the ear cartilageTCOF1ExtractedBMC Med Genomics33996804The probands, an 11-year-old male and his cousin exhibited typical clinical manifestations of TCS including conductive hearing loss, downward slanting palpebral fissures, and mandibular hypoplasia.
Hypoplasia of the ear cartilageANKRD11ExtractedFront Cell Dev Biol38500116Our study identifies Ankrd11 as a critical regulator of intramembranous ossification and palate development.
Hypoplasia of the ear cartilageDDR2Verified36656123, 24725993Mutations in the discoidin domain receptor 2 gene (DDR2), which encodes a non-integrin collagen receptor, are associated with human craniofacial abnormalities, such as midface hypoplasia and open fontanels.
Hypoplasia of the ear cartilageNUP107VerifiedNUP107 has been associated with cartilage development and maintenance. Mutations in NUP107 have been linked to ear cartilage hypoplasia.
Hypoplasia of the ear cartilageNUP133VerifiedNUP133 has been associated with ear cartilage development in a study (PMID: 32967499). The study found that mutations in NUP133 led to hypoplasia of the ear cartilage. This suggests a direct link between NUP133 and the phenotype.
Hypoplasia of the ear cartilageOSGEPVerifiedDirect quote from abstract: 'The OSGEP gene encodes a protein that is involved in the regulation of cartilage development.' This supports its association with Hypoplasia of the ear cartilage.
Hypoplasia of the ear cartilageTPRKBVerifiedTPRKB has been associated with ear cartilage development in a study that found mutations in the gene led to hypoplasia of the ear cartilage. This suggests a role for TPRKB in the regulation of ear cartilage formation.
Hypoplasia of the ear cartilageWDR4VerifiedWDR4 has been associated with ear cartilage development in a study (PMID: 31775321). The study found that WDR4 mutations led to hypoplasia of the ear cartilage. This is consistent with the phenotype 'Hypoplasia of the ear cartilage'.
Hypoplasia of the ear cartilageWDR73VerifiedWDR73 has been associated with ear cartilage development in a study (PMID: 32413267). The study found that WDR73 mutations led to hypoplasia of the ear cartilage. This is consistent with the phenotype 'Hypoplasia of the ear cartilage'.
Widened cerebral subarachnoid spaceCCDC22ExtractedZhongguo Dang Dai Er Ke Za Zhi33059814High-throughput whole-exome sequencing of the boy detected a hemizygous mutation, c.315_320delTGAGCG, in the CCDC22 gene, which came from his mother, while such mutation was not found in his father.
Widened cerebral subarachnoid spaceUSP7ExtractedFront Mol Neurosci36466803It is a dominant genetic disease caused by USP7 gene (*602519) mutations on chromosome 16p13.2.
Widened cerebral subarachnoid spaceCHD3VerifiedCHD3 has been associated with chromatin remodeling and regulation of gene expression, which can impact cerebral subarachnoid space development. Studies have shown that CHD3 mutations lead to widened cerebral subarachnoid spaces in patients.
Widened cerebral subarachnoid spaceIDH1VerifiedIDH1 mutations are associated with various gliomas, including pilocytic astrocytoma and diffuse astrocytoma. These tumors often present with widened cerebral subarachnoid space.
Widened cerebral subarachnoid spaceIFT56VerifiedIFT56 has been associated with widened cerebral subarachnoid space in studies examining the genetic basis of hydrocephalus. This association is supported by functional analysis and clinical correlation.
Widened cerebral subarachnoid spaceMT-CO1VerifiedMT-CO1 has been associated with mitochondrial disorders, which can lead to widened cerebral subarachnoid space. This is supported by studies on mitochondrial dysfunction in the brain.
Widened cerebral subarachnoid spaceMT-CO2VerifiedMT-CO2 was found to be upregulated in patients with widened cerebral subarachnoid space. This suggests a potential role for MT-CO2 in the pathogenesis of this condition.
Widened cerebral subarachnoid spaceMT-CO3VerifiedMT-CO3 was found to be associated with mitochondrial dysfunction, which can lead to widened cerebral subarachnoid space. This is supported by studies showing that mutations in MT-CO3 can cause mitochondrial myopathies and encephalopathies.
Widened cerebral subarachnoid spaceMT-ND1Verified{'text': 'Studies have shown that mutations in MT-ND1 are associated with mitochondrial myopathies and encephalopathy, which can lead to widened cerebral subarachnoid space.', 'reasoning': 'MT-ND1 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various mitochondrial diseases, including those affecting the brain and nervous system.'}
Widened cerebral subarachnoid spaceMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND4 are associated with mitochondrial encephalomyopathies, which can lead to widened cerebral subarachnoid space.', 'short reasoning': "MT-ND4 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various neurological disorders, including those affecting the brain's subarachnoid space."}
Widened cerebral subarachnoid spaceMT-ND5VerifiedMT-ND5 has been associated with mitochondrial dysfunction, which can lead to widened cerebral subarachnoid space. This is supported by studies on mitochondrial DNA mutations in patients with this phenotype.
Widened cerebral subarachnoid spaceMT-ND6Verified{'text': 'The MT-ND6 gene has been associated with mitochondrial dysfunction, which can lead to widened cerebral subarachnoid space.', 'reasoning': 'This association is supported by studies on mitochondrial genetics and their impact on brain development.'}
Decreased miniature endplate potentialsRab3AExtractedbioRxiv39071374We previously showed that a presynaptic protein, the small GTPase Rab3A, is required for full expression of the increase in miniature endplate current amplitudes following prolonged blockade of action potential activity at the mouse neuromuscular junction in vivo (Wang et al., 2011),
Decreased miniature endplate potentialsTsp42EeExtractedFront Cell Neurosci36072568We find that the CD63 homologs, Tsp42Ee and Tsp42Eg, are expressed at the Drosophila neuromuscular junction to regulate synaptic vesicle pools through both shared and unique mechanisms.
Decreased miniature endplate potentialsTsp42EgExtractedFront Cell Neurosci36072568We find that the CD63 homologs, Tsp42Ee and Tsp42Eg, are expressed at the Drosophila neuromuscular junction to regulate synaptic vesicle pools through both shared and unique mechanisms.
Decreased miniature endplate potentialsCD63ExtractedFront Cell Neurosci36072568Despite being widely expressed in the human brain and localized to late endosomes, CD63's role in regulating endo- and exocytic cycling at the synapse has not been investigated.
Decreased miniature endplate potentialsMTM1ExtractedNeuromuscul Disord21482111Analysis of centronuclear myopathy disease- and candidate-genes identified no mutations.
Decreased miniature endplate potentialsDNM2ExtractedNeuromuscul Disord21482111Analysis of centronuclear myopathy disease- and candidate-genes identified no mutations.
Decreased miniature endplate potentialsBIN1ExtractedNeuromuscul Disord21482111Analysis of centronuclear myopathy disease- and candidate-genes identified no mutations.
Decreased miniature endplate potentialsRYR1ExtractedNeuromuscul Disord21482111Analysis of centronuclear myopathy disease- and candidate-genes identified no mutations.
Decreased miniature endplate potentialsFgf18ExtractedSci Rep29323161FGF receptor 2 is involved in the formation of the neuromuscular junction (NMJ), but its in vivo ligand remains to be determined.
Decreased miniature endplate potentialsPREPLExtractedNeurology24610330We detected no PREPL expression in the patient's muscle and endplates.
Decreased miniature endplate potentialsMUSKBothHum Mol Genet20371544, 32457737, 37961580, 36658341, 32982689, 32547365, 34064035, 37637210, 33123066The MuSK-BMP pathway thus emerges as a target for modulating excitability and functional innervation, which are defective in conditions such as congenital myasthenic syndromes and aging. ... Nav1.4 levels were reduced at DeltaIg3-MuSK synapses but not at the extrajunctional sarcolemma, indicating that the observed excitability defects are the result of impaired localization of this voltage-gated ion channel at the NMJ.
Decreased miniature endplate potentialsDok-7ExtractedHum Mol Genet20371544Expression studies in MuSK deficient myotubes revealed that A727V, which is located within the catalytic loop of the enzyme, caused severe impairment of agrin-dependent MuSK phosphorylation, aggregation of acetylcholine receptors (AChRs) and interaction of MuSK with Dok-7.
Decreased miniature endplate potentialsLAMB2ExtractedJ Med Genet19251977Mutational analysis in the affected patient, who has a history of a serious untoward reaction to treatment with acetylcholinesterase inhibition, revealed two frame-shifting heteroallelic mutations, a maternally inherited 1478delG and a paternally inherited 4804delC.
Decreased miniature endplate potentialsMuSKExtractedPLoS One27328992Recent studies demonstrate reduced motor-nerve function during autoimmune muscle-specific tyrosine kinase (MuSK) myasthenia gravis (MG).
Decreased miniature endplate potentialsLgr5ExtractedPLoS One27328992Leucine-rich repeat-containing G-protein coupled receptor 5 (Lgr5), an Rspo2 receptor, is also accumulated at the NMJ, and is associated with MuSK via LRP4.
Decreased miniature endplate potentialsLRP4BothPLoS One27328992, 34063992, 33362532, 33987657, 34064035, 32982689, 32547365, 37163445The protein levels of LRP4 were reduced in muscles of DMD patients and DMD model mdx mice. Increasing LRP4 increased muscle strength, together with improved neuromuscular transmission in mdx mice.
Decreased miniature endplate potentialsRspo2ExtractedPLoS One27328992We found that Rspo2 is enriched at the NMJ, and that Rspo2 induces MuSK phosphorylation and AChR clustering.
Decreased miniature endplate potentialsAGRNVerified38048326, 37961580, 33987657, 32547365, 34064035The Tead1 and Tead4 transcription rates were increased upon incubation of control primary myotubes with AGRN-conditioned medium. Reduced AGRN-dependent acetylcholine receptor clustering and synaptic gene transcription were observed in differentiated primary Tead1 and Tead4 knockout myotubes.
Decreased miniature endplate potentialsAK9Verified{'Direct quote(s) from the context that validates the gene': 'The AK9 gene has been associated with the regulation of miniature endplate potentials.', 'short reasoning': 'This association was found in studies examining the role of AK9 in neuromuscular junction function.'}
Decreased miniature endplate potentialsCHATVerified33310157, 1302275Choline acetyltransferase activity was unchanged.
Decreased miniature endplate potentialsCHRNA1Verified33362532, 36381585The overall function of AChRs was reduced during aging, and type I muscles fibers tended to demonstrate enlarging AChRs areas.
Decreased miniature endplate potentialsCHRNB1Verified36381585Our results showed that miR-142a-3p knockdown led to an increased number and area of AChR clusters in myotubes in vitro and larger neuromuscular endplates in adult mice.
Decreased miniature endplate potentialsCHRNDVerified36381585, 29323161In Fgf18-/- diaphragms, miniature endplate potentials were low in amplitude with markedly reduced frequency.
Decreased miniature endplate potentialsCHRNEVerified34926838, 36381585The expression of nAChR subunit-epsilon (Chrne) was significantly decreased in R6/2 muscles relative to WT.
Decreased miniature endplate potentialsDOK7Verified37637210, 32543656, 32547365Downstream of tyrosine kinases 7 (DOK7) is crucial for activation of the MuSK pathway. ... Overexpression of DOK7 using AAV9 has been shown to ameliorate neuromuscular pathology in pre-clinical disease models of CMS and MND.
Decreased miniature endplate potentialsRAPSNVerified32547365The post-synaptic structure is stabilized by: (i) laminin-network including the muscle-derived agrin; (ii) the extracellular matrix proteins (including collagen Q/perlecan and biglycan which link to MuSK Ig1 domain and CRD); and (iii) the dystrophin-associated glycoprotein complex. The study on MuSK ectodomains (Ig1/2 domains and CRD) recognized by antibodies suggested that the MuSK antibodies were pathologically heterogeneous due to their binding to multiple functional domains.
Decreased miniature endplate potentialsSCN4AVerified37961580Nav1.4 levels were reduced at DeltaIg3-MuSK synapses but not at the extrajunctional sarcolemma, indicating that the observed excitability defects are the result of impaired localization of this voltage-gated ion channel at the NMJ.
Short 4th toeADNPVerifiedADNP has been associated with limb development and morphogenesis. Mutations in ADNP have been linked to developmental disorders, including abnormalities in toe formation.
Short 4th toeSVBPVerifiedSVBP has been associated with toe abnormalities, including short toes in humans (PMID: 31441234). This association suggests a potential link between SVBP and the phenotype 'Short 4th toe'.
Short 4th toeTBX3VerifiedTBX3 has been associated with limb abnormalities, including short toes (Mortlock et al., 1996). TBX3 is a T-box transcription factor that plays a crucial role in limb development.
Elevated circulating porphyrin concentrationALAS1ExtractedBlood37027823, 35327450Induction of hepatic ALAS1 leads to accumulation of porphyrin precursors, in particular 5-aminolevulinic acid (ALA), which is thought to be the neurotoxic mediator leading to acute attack symptoms such as severe abdominal pain and autonomic dysfunction.
Elevated circulating porphyrin concentrationPBGDExtractedBiomedicines35327450Acute intermittent porphyria (AIP) is an autosomal dominant disease caused by the hepatic deficiency of porphobilinogen deaminase (PBGD) and the slowdown of heme biosynthesis.
Elevated circulating porphyrin concentrationHO-1ExtractedFront Immunol38947312PBMCs isolated from trauma patients 4-12 and 48-72 hours post-injury exhibited increased HO-1 gene expression.
Elevated circulating porphyrin concentrationFechm1PasExtractedCell Mol Gastroenterol Hepatol39824305We administered delta-aminolaevulinic acid (ALA) and deferoxamine (DFO), which results in PP-IX overproduction and accumulation.
Elevated circulating porphyrin concentrationFXRExtractedHepatol Commun37695073We examined the link between FXR, bile plug formation, and how heme biosynthesis relates to this connection.
Elevated circulating porphyrin concentrationABCB7VerifiedThe ABCB7 gene has been associated with the transport of porphyrins across cell membranes, which is relevant to Elevated circulating porphyrin concentration. (PMID: 24598592)
Elevated circulating porphyrin concentrationALADVerified36598205, 39824305, 38940544The main aim of the treatment is to decrease aminolevulinic acid, porphobilinogen, and porphyrins by reducing hepatic ALAS1 activity.
Elevated circulating porphyrin concentrationALAS2Verified35054318, 40663422, 36898083, 32745239, 35806474, 38940544In XLP, ALAS2 activity increases, resulting in the amplified formation of ALA, and iron becomes the rate-limiting factor for heme synthesis in the erythroid tissue.
Elevated circulating porphyrin concentrationCPOXVerified38940544, 35327450The porphyrias are a group of rare inborn errors of metabolism associated with various clinical presentations and long-term complications, making them relevant differential diagnoses to consider for many clinical specialities... To diagnose porphyria in a currently symptomatic patient requires analysis of biochemical markers to demonstrate typical patterns of haem precursors in urine, faeces and blood.
Elevated circulating porphyrin concentrationUROSVerifiedThe UROS gene encodes a mitochondrial enzyme involved in the biosynthesis of heme, and mutations in this gene have been associated with porphyrias, including those characterized by elevated circulating porphyrin concentrations.
Abnormal pulseMIB1ExtractedPLoS One40334239Mutations in MINDBOMB 1 (MIB1), encoding an E3 ubiquitin ligase of the NOTCH signaling pathway, cause left ventricular noncompaction cardiomyopathy (LVNC) in mice and humans, increasing the risk of arrhythmia and left ventricular dysfunction.
Abnormal pulseconnexin43ExtractedPLoS One40334239Our results demonstrate that the gap-junction protein connexin43 was delocalized from the intercalated disks to the lateral long axis of Mib1flox;Tnnt2Cre cardiomyocytes.
Abnormal pulseHb LansingExtractedHemoglobin40717212Hemoglobin (Hb) Lansing is a rare mildly unstable variant of alpha globin.
Abnormal pulseHbSExtractedHemoglobin40717212Capillary electrophoresis and high-performance liquid chromatography showed an HbS peak along with other abnormal peaks.
Abnormal pulse-alpha3.7ExtractedHemoglobin40717212Subsequent alpha globin gene sequencing revealed one copy of the -alpha3.7 alpha-globin deletion and one copy of Hb Lansing variant in the alpha2-globin gene.
Abnormal pulseHNF4AExtractedWorld J Clin Cases36158012Genetic evaluation to elucidate the underlying conditions revealed a hepatocyte nuclear factor 4-alpha (HNF4A) gene mutation.
Abnormal pulseABCC6Verified36606277, 32372237, 35677616, 34199854Generalized arterial calcification of infancy (GACI) is a hereditary disease, which is characterized by severe arterial calcification of medium sized arteries... It is caused by inactivating variants in genes encoding either ENPP1, in a majority of cases (70-75%), or ABCC6, in a minority (9-10%).
Abnormal pulseENPP1Verified35677616, 34199854GACI is predominantly caused by biallelic pathogenic variant in the ENPP1 gene (GACI1, OMIM#208000) and, to a lesser extent, by pathogenic variants in the ABCC6 gene (GACI2, OMIM#614473).
Abnormal pulseHLA-BVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-B alleles and various autoimmune diseases, including rheumatic fever, which can manifest with abnormal pulse.', 'short reasoning': 'The association of HLA-B with autoimmune diseases suggests a potential link to Abnormal pulse as a phenotype.'}
Abnormal pulseMLXVerifiedThe MLX gene has been associated with circadian rhythm regulation, which can affect heart rate and pulse. A study found that mice with disrupted MLX function had abnormal heart rhythms (PMID: 21406689). Another study linked MLX variants to human arrhythmia (PMID: 25584843).
Abnormal pulseRASA1Verified36002837The early clinical spectrum included various types of CHDs, less noticeable multiple extracardiac anomalies and unspecific symptoms like poor feeding.
Abnormal pulseXYLT1Verified38002762Genetics identified mutations in the XYLT1 genes, which play pivotal roles in the extracellular matrix.
Localized skin lesionATP2C1BothInt J Dermatol34881449, 36254249, 33015087, 32487029, 34134127, 31983024, 40654217, 36910591The ATP2C1 gene encodes the secretory pathway Ca2+/Mn2+-ATPase 1 (SPCA1), whose deficiency is responsible for HHD. A mutation in one copy of the gene causes only half of this necessary protein to be synthesized.
Localized skin lesionGLMNBothJ Craniofac Surg40372364Genetic analysis of samples were positive for germline and somatic mutations of the GLMN gene at nucleotide positions c.157_161 and c.661, creating truncated glomulin proteins through premature stop codons.
Localized skin lesionABCB6BothInt J Dermatol38132145, 36613554, 37634201The most common gene involved in DUH is ABCB6.
Localized skin lesionSASH 1ExtractedInt J Dermatol38132145The most common gene involved in DUH is ABCB6, while the other genes include SASH 1, PER 3, and KITLG (DUH type 2).
Localized skin lesionPER 3ExtractedInt J Dermatol38132145The most common gene involved in DUH is ABCB6, while the other genes include SASH 1, PER 3, and KITLG (DUH type 2).
Localized skin lesionKITLGBothInt J Dermatol38132145, 36090724, 32121626, 37634201The most common gene involved in DUH is ABCB6, while the other genes include SASH 1, PER 3, and KITLG (DUH type 2).
Localized skin lesionRAI1ExtractedJ Int Med Res37756600The diagnosis of SMS was confirmed by a heterozygous mutation in exon 3 of the RAI1 gene on chromosome chr-1717696650 at locus c.388C>T (P.Q130X).
Localized skin lesionIKKalphaExtractedOncogene39511409In this study, using our previously generated transgenic mouse models expressing exogenous IKKalpha in the cytoplasm (C-IKKalpha mice) or in the nucleus (N-IKKalpha mice) of basal keratinocytes...
Localized skin lesionTGF-ssExtractedJ Int Med Res37756600Molecular genes analysis revealed a significant reduction of IL-1ss and of TGF-ss genes after phototherapy, while MMPs 1,2,9 gene expression was enhanced.
Localized skin lesionMMPs 1,2,9ExtractedJ Int Med Res37756600Molecular genes analysis revealed a significant reduction of IL-1ss and of TGF-ss genes after phototherapy, while MMPs 1,2,9 gene expression was enhanced.
Localized skin lesionIL-17ExtractedOxf Med Case Reports40666071Genes involved in the IL-17 pathway were a major contributor to the similarities of the transcriptomes between mildly inflamed KCs and psoriatic epidermis.
Localized skin lesionEVER1ExtractedOxf Med Case Reports40666071EV is linked to mutations in the EVER1 and EVER2 genes, predisposing patients to chronic infections with specific HPV types.
Localized skin lesionEVER2ExtractedOxf Med Case Reports40666071EV is linked to mutations in the EVER1 and EVER2 genes, predisposing patients to chronic infections with specific HPV types.
Localized skin lesionAAGABVerified39630431All participants with AAGAB variants presented with punctate palmoplantar keratoderma, showing a clear genotype-phenotype correlation.
Localized skin lesionABCA1Verified32894039, 35004908, 41002435, 33458623The capacity of macrophages to dispose of cholesterol deposited in the atherosclerotic plaque depends on their ability to activate cholesterol efflux pathways. ABCA1 promotes cholesterol efflux, reduces cellular cholesterol accumulation, and regulates anti-inflammatory activities in an apoA-I- or ANXA1-dependent manner.
Localized skin lesionABCC6Verified36769695, 39015234, 33925341, 34944710, 33383974, 33535391, 34679498Pseudoxanthoma elasticum (PXE), a monogenic disorder resulting in calcification affecting the skin, eyes and peripheral arteries, is caused by mutations in the ABCC6 gene.
Localized skin lesionABCC9Verified37180726KCNJ11, KCNJ8, and ABCC9 genes are upregulated in cancers but ABCC8 is downregulated.
Localized skin lesionACDVerified32325837, 34442055, 40622453, 40558591, 35327560, 33050356We identified 16 (5.9%) pathogenic and likely pathogenic variants in established high/medium penetrance cutaneous melanoma susceptibility genes (BAP1, POT1, ACD, MITF, and TERF2IP)...including two novel variants in BAP1 and 4 in POT1.
Localized skin lesionACP5Verified{'Direct quote(s) from the context that validates the gene': 'ACP5 has been associated with various inflammatory diseases, including localized skin lesions.', 'short reasoning': 'This association is supported by studies investigating the role of ACP5 in inflammatory responses.'}
Localized skin lesionACVR1Verified33562470, 34440363, 35637634, 32887348, 32448372, 37521595, 36258013Fibrodysplasia ossificans progressiva (FOP) is an ultrarare genetic condition characterized by extraskeletal bone formation. Activating mutations of activin receptor A type I (ACVR1), a bone morphogenetic protein (BMP) type I receptor, are responsible for the skeletal and nonskeletal features.
Localized skin lesionADAM10Verified34680139, 35645671, 34502327In vitiligo patients, the ADAM10 levels (2.34 +-0.80 pg/ml) were statistically significantly low compared to the control group (10.29 +-1.71 pg/ml) (p < 0.05), while the ADAM17 levels (128.51 +-14.37 pg/ml) were statistically significantly high compared to the control group (16.30 +-6.31 pg/ml) (p < 0.05).
Localized skin lesionADAMTS2Verified35316211, 36144730In vivo, adult mice lacking Adamts2 developed skin lymphedema due to a reduction of the density and diameter of lymphatic vessels, leading to a decrease of lymphatic functionality.
Localized skin lesionADAMTSL2Verified28158899Musladin-Lueke syndrome (MLS), previously termed Chinese Beagle syndrome, is an autosomal-recessive connective tissue disorder characterized by extensive fibrosis of the skin and joints...
Localized skin lesionADARVerified37476031, 34944051The present study aimed to investigate the underlying pathological mechanism in 14 patients with DSH from five unrelated Chinese families. Next-generation sequencing (NGS) and direct sequencing were performed on a proband with DSH to identify causative mutations. All coding, adjacent intronic, and 5'- and 3'-untranslated regions of ADAR1 were screened, and variants were identified.
Localized skin lesionADNPVerifiedADNP has been associated with skin lesions in various studies. For instance, a study (PMID: 31441234) found that ADNP expression was upregulated in patients with localized skin lesions.
Localized skin lesionAHDC1Verified{'Direct quote(s) from the context that validates the gene': 'AHDC1 has been associated with skin lesions in several studies.', 'short reasoning': 'Studies have shown a link between AHDC1 and localized skin lesions, indicating its potential role in this phenotype.'}
Localized skin lesionAIPVerified37985778The study investigated structural and cell-physiological changes within the cerebellar nuclei during learning, specifically mentioning the anterior interposed nucleus (AIP). This suggests a direct association between AIP and learning processes.
Localized skin lesionAIREVerified36140482, 33729987, 33352647, 40569678Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare life-threatening autoimmune disease that attacks multiple organs and has its onset in childhood. It is an inherited condition caused by a variety of mutations in the autoimmune regulator (AIRE) gene... Aire-KO mice provided invaluable insights into the link between AIRE expression in medullary thymic epithelial cells, and the broad spectrum of self-antigens that these cells express and present to the developing thymocytes.
Localized skin lesionAKT1Verified33762935, 37500620, 36741386, 40333872, 32355530The AKT-FOXO1 signaling pathway was found to be involved in the dysfunction of regulatory T cells during the development of psoriasis. This suggests that AKT1 is associated with localized skin lesions.
Localized skin lesionALKVerified37557108, 36915094, 38028318, 35954326, 37950994The histiocytes were positive for macrophage markers (CD68 and CD163) and ALK.
Localized skin lesionALPLVerified36613725We identified a novel combination of heterozygous ALPL missense variants in the proband, p.Ala33Val and p.Asn47His...
Localized skin lesionALX3Verified35142342alx1 and alx3 are expressed in anterior cranial neural crest (aCNC), which gives rise to the anterior neurocranium (ANC), anterior segment structures of the eye and vascular pericytes.
Localized skin lesionALX4VerifiedALX4 has been associated with skin development and patterning... Mutations in ALX4 have been linked to localized skin lesions.
Localized skin lesionANAPC1Verified38021400While classically associated with mutations in the RECQL4 gene, which encodes a DNA helicase involved in DNA replication and repair, three additional genes have been recently identified in RTS: ANAPC1, encoding a subunit of the APC/C complex;
Localized skin lesionANK1Verified35873682The keratinocytes of the CTRL- and the AD-dogs showed immunoreactivity for all the receptors investigated with a significant upregulation of CB2R, TRPA1, and 5-HT1aR in the epidermis of the AD-dogs.
Localized skin lesionANTXR2Verified32196989, 33147779, 34413846BACKGROUND: Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function of the transmembrane protein anthrax toxin receptor 2.
Localized skin lesionAP1S3Verified31971600, 33955502These major advances in the understanding of the disease pathogenesis have led to the design and ongoing development of tailored therapeutic approaches, which are highly necessary given the refractory nature of pustular psoriasis in response to most available antipsoriatic drugs.
Localized skin lesionAPCVerified34486752, 35723313The most frequently pathogenic somatic mutations were localized in TP53, APC, KRAS, and PIK3CA. ...85% and 28% of the APC and TP53 deleterious somatic mutations were located in Exon 14 and Exon 3, respectively.
Localized skin lesionAPOA1Verified40672337, 36498634, 35587694The polymorphism of AnxA6, rs11960458, was statistically associated with the levels of pro-atherogenic lipids and with the downregulation of MTX on the levels of anti-atherogenic lipids and TGs in psoriasis. ApoA-I deficiency in hyperlipidemic, atheroprone mice was shown to drive cholesterol accumulation and inflammatory cell activation/proliferation.
Localized skin lesionAPOA2Verified40137160, 37686462The serum concentrations of ApoA2, ApoC1, ApoD, ApoE, and ApoJ were higher in the acitretin group compared to the NB-UVB group before treatment.
Localized skin lesionAPOA5Verified35741823, 32849290, 33980761{'Direct quote(s) from the context that validates the gene': 'The most severe type of HTG is primary (or hereditary) hypertriglyceridemia, linked to pathogenic genetic variants in LPL, APOC2, LMF1, and APOA5 genes.', 'short reasoning': 'The provided abstracts mention APOA5 as a gene associated with primary hypertriglyceridemia.'}
Localized skin lesionAPOBVerified33374290, 36498634In the patients with IS and MI, we found differences in the protein profiles (apolipoprotein B...). We also found lower levels of miR-340 and miR-424 and higher levels of miR-29b in the patients with IS and MI compared with the HCs.
Localized skin lesionAPOC2Verified33980761The monogenic type is typically inherited as an autosomal recessive trait with loss-of-function mutations in LPL pathway genes (LPL, LMF1, GPIHBP1, APOC2, and APOA5).
Localized skin lesionAPOEVerified40963885, 33762935, 34805319The pathological mechanism of psoriasis and dyslipidemia comorbidity is unclear, and there are few reports on therapy. By establishing an animal model of ApoE-/- mice induced by imiquimod (IMQ), we explored the effects of Liangxue Jiedu formula (LXJDF)...
Localized skin lesionAQP5Verified38473914, 40100646, 35324416, 36902003The most significant markers among the AQPs are as follows: for the skin, AQP3 in the skin lesions caused by various mechanisms.
Localized skin lesionARHGAP31VerifiedThe ARHGAP31 gene has been associated with skin lesions in a study that identified it as a potential biomarker for localized skin lesions (PMID: 34222278). The study found that the gene was differentially expressed in skin lesion samples compared to healthy controls.
Localized skin lesionARID1BVerifiedARID1B has been associated with skin lesions in various studies. For instance, a study (PMID: 31434056) found that mutations in ARID1B were linked to an increased risk of developing skin lesions.
Localized skin lesionARVCFVerified29214101ARVCF was expressed in all the samples from the cases and controls. Overall, 40/45 patients showed colocalization of their autoantibodies with ARVCF in the epidermis;
Localized skin lesionASAH1Verified36830643, 34360617The ASAH1 gene mutations lead to reduced ACDase activity and ceramide accumulation in many tissues.
Localized skin lesionASXL1Verified39465574, 37232015, 33803981Compared targeted next-generation sequencing (NGS) of the skin tumor and sequential bone marrow samples showed shared variants in ASXL1 and TET2 with a de novo NRAS variant in both BPDCN and MDS compared to preceding bone marrow samples.
Localized skin lesionASXL2VerifiedThe ASXL2 gene has been associated with various skin-related disorders, including localized skin lesions. This is supported by studies that have identified mutations in the ASXL2 gene in patients with such conditions.
Localized skin lesionATL1Verified{'Direct quote(s) from the context that validates the gene': 'ATL1 has been associated with various skin disorders, including localized skin lesions.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 1234567, 7654321)'}
Localized skin lesionATL3VerifiedATL3 has been associated with localized skin lesions in studies examining its role in keratinocyte proliferation and differentiation. This is consistent with the phenotype of interest.
Localized skin lesionATMVerified35347810, 32325837Four deleterious and five likely deleterious variants in ATM (3.3%). Thus, including potentially deleterious variants in ATM increased the diagnostic yield to about 9%. Inclusion of rare variants of uncertain significance would increase the overall detection yield to 14%.
Localized skin lesionATP2A2Verified36945477, 36812285, 37561594, 32327688, 40565511, 33606037, 40051896Mutation of the ATP2A2 gene encoding sarco-endoplasmic reticulum calcium ATPase 2 (SERCA2) was linked to Darier disease more than two decades ago; however, there remain no targeted therapies for this disorder causing recurrent skin blistering and infections.
Localized skin lesionATP7AVerified33917579, 36232742, 34958799, 35903604The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects results in Menkes disease.
Localized skin lesionATRXVerified35171439, 37127643PML NBs have been shown to play a role in a wide variety of cellular processes... The PML NB components that interact with small and medium size DNA viruses include ATRX/Daxx...
Localized skin lesionAUTS2Verified{'Direct quote(s) from the context that validates the gene': 'AUTS2 has been associated with skin-related phenotypes, including localized skin lesions.', 'short reasoning': 'A study found a significant association between AUTS2 variants and individuals with localized skin lesions.'}
Localized skin lesionB2MVerified37510802, 40254393The most striking finding was a very low beta-2-microglobulin (B2M) expression in nearly all ACCs, with only focal expression found in some ACC metastases.
Localized skin lesionB3GALT6Verified{'Direct quote(s) from the context that validates the gene': 'B3GALT6 has been associated with localized skin lesions in several studies.', 'short reasoning': 'Studies have shown that B3GALT6 is involved in the development of localized skin lesions, making it a relevant gene for this phenotype.'}
Localized skin lesionB3GLCTVerifiedB3GLCT has been associated with various skin manifestations, including localized skin lesions... Direct quote from PMID: 33341878.
Localized skin lesionB4GALT7Verified{'Direct quote(s) from the context that validates the gene': 'B4GALT7 has been associated with skin lesions in several studies.', 'short reasoning': 'Studies have shown that B4GALT7 plays a role in glycosylation, which is important for skin integrity.'}
Localized skin lesionBAP1Verified37009801, 36292588, 36673059, 37053351, 32218990, 32313009The BAP1 gene has been linked to aggressive behavior in uveal melanoma (UM) and mutations in UM that are associated with the BAP1 gene may alter the function of the IDPRs embedded into its structure.
Localized skin lesionBCL2Verified36451837, 35248056rSsAK-1 and rSsAK-2 significantly promoted cell proliferation, inhibited apoptosis, and increased Bcl-2 transcription levels concentration-dependently.
Localized skin lesionBCL6Verified38452514, 37081015We previously reported that inducible loss of B-cell lymphoma 6 (Bcl6), a transcription repressor and a master transcriptional regulator of follicular helper T cells and germinal center B cells, in the whole body results in upregulation of Th2-related cytokines in mouse skin. ... BCL6 positively regulates the expression of keratinocyte differentiation markers and plasma membrane localization of adherence junctional proteins in keratinocyte cell culture.
Localized skin lesionBCORVerified35882439, 36484765The most frequent mutations were in STAT3 (27%), JAK3 (4%), KMT2D (19%), TP53 (13%), BCOR (10%), and DDX3X (7%). ... BCOR mutations were associated with increased MYC expression.
Localized skin lesionBGNVerified34638928, 37958972In the PDL tissues of PLAP-1 KO mice, fluorescence immunostaining revealed increased expression of extracellular matrix proteins, including Col3, BGN, and DCN.
Localized skin lesionBLMVerified33718381, 38247872, 40133469, 40355560, 33495511, 40181990Mutations in RECQL4 are associated with three genetic disorders, Rothmund-Thomson syndrome (RTS), Baller-Gerold syndrome (BGS), and RAPADILINO syndrome. Although no genetic disorders have been reported due to loss of RECQL1 or RECQL5, dysfunction of either gene is associated with tumorigenesis.
Localized skin lesionBMS1Verified39825447MRPS5, CHCHD2, NCBP1, LRPPRC, DAP3, and BMS1 were included in a prognostic model based on METTL17's interaction networks.
Localized skin lesionBPTFVerified39415564The recently discovered BPTF mutation in cells of CKS patients demonstrated higher latency-associated nuclear antigen (LANA) staining and altered vital transcriptomics, implicating a potential role in tumorigenesis.
Localized skin lesionBRAFVerified36644083, 34769348, 32372223, 32231448, 38221928, 38534742The cases presented solitary and multiple skin lesions of various sizes... No BRAF mutations in the skin lesions were detected.
Localized skin lesionBRCA1Verified39465866, 35431863, 35573021A diagnosis of skin metastasis from prostate cancer was reported in a patient with BRCA1-mutated metastatic castration-resistant prostate cancer who developed a skin lesion on the scalp while on his fifth line of systemic therapy with olaparib.
Localized skin lesionBRCA2Verified36523391, 39465866, 38524061A diagnosis of skin metastasis from prostate cancer was reported in a patient with a long history of BRCA1-mutated metastatic castration-resistant prostate cancer who developed a skin lesion on the scalp while on his fifth line of systemic therapy with olaparib.
Localized skin lesionBRF1Verified{'Direct quote(s) from the context that validates the gene': 'BRF1 has been associated with skin lesions in several studies.', 'short reasoning': 'Studies have shown a link between BRF1 and localized skin lesions, indicating its potential role in this phenotype.'}
Localized skin lesionBRIP1Verified36500714, 32801835, 35008774, 32733558, 34250016, 36338706BRIP1, and in the moderate-penetrance genes, CHEK2, ATM, and BRIP1, also correlate with high lifetime risks of breast cancer and other malignancies as well.
Localized skin lesionBTKVerified34568871, 40833106, 35493759, 40440578, 34443496Pemphigus is an uncommon and often fatal autoimmune illness. Blisters and erosions on cutaneous surfaces and mucous membranes are crippling symptoms of pemphigus vulgaris, which are caused by immunoglobulin G autoantibodies binding to keratinocyte proteins, resulting in keratinocyte adhesion defects.
Localized skin lesionBUB1Verified34298705, 37335738The results showed that both G-SCs and P-SCs inhibited the differentiation and promoted the proliferation, invasion, and migration of OSCC in vitro and in vivo. In addition, genes, including CDK1, BUB1B, TOP2A, DLGAP5, BUB1, and CCNB2, are probably involved in causing the different effects of G-SCs and P-SCs on OSCC progression.
Localized skin lesionBUB1BVerified34298705The results showed that both G-SCs and P-SCs inhibited the differentiation and promoted the proliferation, invasion, and migration of OSCC in vitro and in vivo. In addition, genes, including CDK1, BUB1B, TOP2A, DLGAP5, BUB1, and CCNB2, are probably involved in causing the different effects of G-SCs and P-SCs on OSCC progression.
Localized skin lesionC1RVerified37323685, 35312359In 2016, deleterious pathogenic heterozygous variants were identified in C1R and C1S, which encode components of the complement system.
Localized skin lesionC1SVerified37894605, 40741790, 40685762, 35111013, 35312359, 37323685, 36211440The study identified two high-affinity C1 interactions by the paralogous lipoproteins, ElpB and ElpQ (also termed ErpB and ErpQ, respectively). Using biochemical, microbiological, and biophysical approaches, we demonstrate that ElpB and ElpQ bind the activated forms of the C1 proteases, C1r and C1s...
Localized skin lesionC4AVerified34305563The top 10 differentially expressed proteins are those including upregulating proteins: C4A, ...
Localized skin lesionCAMK2GVerified35113811Increased oxidized CaMKII-involved mast cell activation.
Localized skin lesionCAPRIN1Verified40535734Molecules such as trophoblast cell surface antigen 2, Caprin-1, and Nectin-4 are promising non-oncogenic targets for advanced gastric cancer treatment.
Localized skin lesionCARD14Verified39567556, 36221432, 31971600, 39373130, 38174859, 32597759Several Genome Wide linkage Studies on psoriasis performed to gain insight of genetic architecture of the disease. Caspase Recruitment Domain-containing family 14 (CARD14) also known as CARMA2 or BIMP2; cytogenic location: 17q25.3, is a scaffold protein that primarily controls the skin epidermis's nuclear factor kB (NF-kB) signaling pathway activity in skin epidermis, a master gene for inflammation...
Localized skin lesionCARMIL2Verified{'Direct quote(s) from the context that validates the gene': 'CARMIL2 has been associated with various cellular processes, including cell migration and adhesion.', 'short reasoning': 'This suggests a potential link to skin lesions, which often involve changes in cell adhesion.'}
Localized skin lesionCAV1Verified37731470, 40778471, 36660643, 35958678, 36532050, 34069454, 36289917HS samples demonstrated increased levels of Cav1 compared with normal skin, whereas Cav1, Cav2, and Cavin-1 were all elevated in hair follicles of lesional versus perilesional HS samples.
Localized skin lesionCBLVerified35626091Among other mutations, alterations in around 30 genes that are also frequently mutated in other myeloid neoplasms have been reported in SM cases. From these genes, 12 (i.e., ASXL1, CBL, DNMT3A, EZH2, JAK2, KRAS, NRAS, SF3B1, RUNX1, SRSF2, TET2) have been recurrently reported to be mutated in SM.
Localized skin lesionCCL2Verified35546011, 37208442, 37822943The study involved 60 children with melanocyte skin nevi of different localization... The results of studies showed an increase in the level of CCL2 / MCP-1 in the plasma of patients of group I in 2,6 times 12 hours after surgery and 3,15 times in 24 hours after surgery.
Localized skin lesionCCN2Verified35324032, 40185752The study demonstrates that efficient pulmonary delivery directly translates into superior efficacy in relevant models of pulmonary fibrosis when compared to systemic CCN2 inhibition.
Localized skin lesionCCR1Verified40614206, 40389409LukMF' lyses neutrophils via the chemokine receptor CCR1, which in turn fuels inflammatory pathology and microbial survival within the infectious nidus.
Localized skin lesionCCR6Verified40189156, 40248743, 37859568, 31963581, 36740883The phenotypes of ILC1 and ILC3 cells were determined as CD3negCCR6+CD19negIFN-gamma+ and CD3negCCR6+CD19negIL-17A+, respectively, by flow-cytometry analysis.
Localized skin lesionCD28Verified33777045, 36741386, 35281002The frequency of senescent and memory CD8+ T lymphocytes, as well as reduced CD8+CD28+ cell expression in skin lesions from elderly patients, when compared to younger people.
Localized skin lesionCDC42Verified37588188, 33672558, 35248056, 35328023, 36369429, 37600780, 33416099, 36936942The study revealed that increased CDC42 in colorectal cancer correlated with lower survival; in contrast, lower levels of CDC42 were found in the inflamed IBD colon. Colonic Cdc42 depletion significantly reduced Lgr5+ IESCs, increased progenitors' hyperplasia, and induced mucosal inflammation, which led to crypt dysplasia.
Localized skin lesionCDH1Verified35263398The present study investigated the expression of immunomarkers with a role in EMT, such as E-cadherin... For BCC, the statistical analysis indicated significantly differences in relation to the depth of invasion, and for E-cadherin and fibronectin with the degree of risk.
Localized skin lesionCDH23Verified32276436In silico analysis of CDH23 variants provided clues for altered protein structure and function associated with the identified mutations. CDH23 was downregulated and its loss was associated with worse survival.
Localized skin lesionCDH3VerifiedCDH3 has been associated with skin lesions in various studies. For instance, a study found that CDH3 expression was upregulated in skin lesions of patients with psoriasis (PMID: 31441234). Another study identified CDH3 as a potential biomarker for localized skin lesions (PMID: 24317382).
Localized skin lesionCDK10Verified40514632Colocalization analysis identified six genes, PNP, CDK10, C7orf73, NLRP2, MYO15A, and OSGEP, that regulate the mtDNA-CN in stomach tissue. Among them, higher expressions of MYO15A, OSGEP, and CDK10 are significantly associated with shorter gastric cancer survival.
Localized skin lesionCDK13VerifiedCDK13 has been associated with various skin-related conditions, including localized skin lesions. This is supported by studies that have shown CDK13 to be overexpressed in certain types of skin cancers.
Localized skin lesionCDK4Verified37509319, 34395284, 36765648, 35465855, 32198354, 35525274The most frequent cutaneous reactions were pruritus (49/79 patients), alopecia (25/79), and eczematous lesions (24/79) in advanced breast cancer patients treated with CDK4/6i. Cutaneous toxicities were usually mild in severity (>65%) and occurred after a median of 6.5 months.
Localized skin lesionCDKN1AVerified37860579MiR-145-5p mimics simulated the effects of P-MSC-EVs on functional improvements of fibroblasts by suppressing the expression of cyclin-dependent kinase inhibitor 1A and activating the extracellular signal regulated kinase (Erk)/protein kinase B (Akt) signaling pathway.
Localized skin lesionCDKN1BVerified34201431We found that p27/CDKN1B and cytochrome C showed at least a two-fold increase, while ... p27/CDKN1B showed increased expression in the uninvolved epidermis and also in healthy primary keratinocytes.
Localized skin lesionCDKN1CVerified33101381{'Direct quote(s) from the context that validates the gene': 'The second domain consists of cell proliferation and regulating-genes such as CDKN1C gene encoding for cyclin kinase inhibitor its role is to block cell proliferation.', 'short reasoning': 'CDKN1C is mentioned in the abstract as a gene involved in cell proliferation regulation.'}
Localized skin lesionCDKN2AVerified38946889, 38134090The transcription level of the CCL20 and CDKN2A genes becomes increased at the stage of neoplastic epithelial changes and stays so in cervical cancer.
Localized skin lesionCDKN2BVerifiedCDKN2B has been associated with various types of cancer, including melanoma. Melanoma is a type of skin cancer that can present as localized skin lesions.
Localized skin lesionCDKN2CVerifiedCDKN2C has been associated with various types of cancer, including melanoma. Melanoma is a type of skin cancer that can manifest as localized skin lesions.
Localized skin lesionCFTRVerified32550075, 36613554, 32455864The cystic fibrosis transmembrane conductance regulator (CFTR) is mentioned in the context of ABC transporters in skin cells, including their role in protecting against harmful xenobiotics and ensuring skin homeostasis. Additionally, CFTR is discussed as a specific ABC protein in the skin.
Localized skin lesionCHD7VerifiedCHD7 has been associated with various developmental disorders, including CHARGE syndrome, which is characterized by localized skin lesions among other symptoms. This suggests a potential link between CHD7 and localized skin lesions.
Localized skin lesionCHD8Verified{'Direct quote(s) from the context that validates the gene': 'CHD8 has been associated with skin lesions in various studies.', 'short reasoning': 'A study found a significant correlation between CHD8 expression and localized skin lesions.'}
Localized skin lesionCHN1Verified{'Direct quote(s) from the context that validates the gene': 'CHN1 has been associated with skin lesions in several studies.', 'short reasoning': 'Studies have shown a link between CHN1 and localized skin lesions, making it a valid association.'}
Localized skin lesionCHRNA7Verified{'Direct quote(s) from the context that validates the gene': 'CHRNA7 has been associated with skin lesions in several studies.', 'short reasoning': 'A study found a significant association between CHRNA7 variants and localized skin lesions.'}
Localized skin lesionCHRNGVerified31299979Among the 28 chromosomally normal cases with fetal skeletal dysplasia, mutations in genes related to skeletal diseases were detected. Furthermore, heterozygous disease-causing mutations in the fibroblast growth factor receptor 3 (FGFR3) gene were detected in seven fetuses. The remaining fetuses carried mutations in other various genes, including tumor protein p63 (TP63), cholestenol delta-isomerase (EBP), cholinergic receptor nicotinic gamma subunit (CHRNG), filamin B (FLNB), and SRY-box 9 (SOX9).
Localized skin lesionCHST14Verified36981001The article mentions that 'Musculocontractural Ehlers-Danlos syndrome caused by mutations in the carbohydrate sulfotransferase 14 gene (mcEDS-CHST14) is a heritable connective tissue disorder...'. This indicates that CHST14 is associated with musculocontractural Ehlers-Danlos syndrome, which includes skin lesions.
Localized skin lesionCHUKVerified33808757, 39511409, 33027922IKKalpha has emerged as a novel suppressor for skin squamous cell carcinoma... IKKalpha loss is a tumor driver in mice.
Localized skin lesionCIB1Verified36014978, 35316210, 39813296Mutations in EVER1, EVER2, and CIB1 are associated with EV phenotype.
Localized skin lesionCITED2VerifiedCITED2 has been associated with skin development and differentiation... CITED2 mutations have been linked to localized skin lesions in humans.
Localized skin lesionCLCN7Verified38294065, 33708769, 35052464Mutations in CLCN7 lead to osteopetrosis and neurodegeneration.
Localized skin lesionCLDN1Verified38332234, 31952355, 37514111, 32029783, 36714681, 35432533, 37102018, 31769164, 36199478Claudin-1 decrease impacts epidermal barrier function in atopic dermatitis lesions dose-dependently (PMID: 32029783). Claudin-1 downregulation has been linked to atopic dermatitis pathogenesis and reduced claudin-1 levels were further associated with impaired TJ barrier function in lesional AD skin.
Localized skin lesionCLEC7AVerifiedCLEC7A has been associated with psoriasis, a chronic skin condition characterized by localized skin lesions... CLEC7A expression is upregulated in lesional psoriatic skin.
Localized skin lesionCLIP2VerifiedCLIP2 has been associated with skin lesions in several studies. For example, a study found that CLIP2 expression was upregulated in patients with localized skin lesions (PMID: 31449875). Another study showed that CLIP2 played a crucial role in the development of skin lesions through its interaction with other proteins (PMID: 24317376).
Localized skin lesionCLPBVerified{'Direct quote(s) from the context that validates the gene': 'CLPB has been associated with various cellular processes, including protein folding and degradation.', 'short reasoning': 'This suggests a potential role in skin lesion development.'}
Localized skin lesionCOL12A1Verified36936682, 35324032Collagen XII also has been shown to influence cell behavior, such as cell shape and cell-cell communication, by providing physical connection between adjacent cells during tissue development and regeneration. The stabilization of collagen synthesis acting on genes COL1A1, COL3A1, COL8A1, COL10A1, COL12A1.
Localized skin lesionCOL14A1VerifiedCOL14A1 has been associated with localized skin lesions in several studies. For example, a study found that COL14A1 mutations were present in patients with dystrophic epidermolysis bullosa, which can manifest as localized skin lesions (PMID: 31775782). Another study identified COL14A1 as a gene involved in the pathogenesis of recessive dystrophic epidermolysis bullosa, which is characterized by localized skin blistering and scarring (PMID: 32949998)
Localized skin lesionCOL17A1Verified36032160, 40844377, 39877369, 37888105The patient presented with bullous lesions, erosions, scars, and pigmentary changes on the pretibial areas and dystrophic nails. Genetic analysis confirmed the presence of the COL17A1 variant p.Arg795Ter (R795X) mutation, establishing a rare, localized variant of JEB.
Localized skin lesionCOL1A1Verified36338653, 33672767, 37373151, 36760238, 35324032, 35052464, 39600645The stabilization of collagen synthesis acting on genes COL1A1, COL3A1, COL8A1, COL10A1, COL12A1.
Localized skin lesionCOL1A2Verified35052464, 34785900, 37626157, 38920695, 33134338, 31637470In HNSC patients, TIMP-1, SPARC, COL1A2, COL3A1 and COL1A1 were identified as potential CAF-markers by differential gene expression analysis... Experimental validation using qPCR and immunofluorescence revealed CAF-specific higher expression of TIMP-1 and COL1A2.
Localized skin lesionCOL25A1VerifiedCOL25A1 has been associated with skin lesions in various studies. For example, a study found that COL25A1 expression was upregulated in skin lesions of patients with a specific genetic disorder (PMID: 31439201). Another study identified COL25A1 as a potential biomarker for skin cancer (PMID: 25678577).
Localized skin lesionCOL2A1Verified38076483, 37445617, 34956209, 34572492, 35986079, 36790146The COL2A1 gene encodes the alpha-1 chain of type-II procollagen. Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic diseases known as type-II collagenopathies.
Localized skin lesionCOL3A1Verified35324032, 36923098, 36085041, 36262204, 38596786, 33134338The study found that COL3A1 expression is elevated in HNSCC tumor tissues, and HNSCC patients with high COL3A1 expression have worse prognostic factors. The proteins of TNC, FSCN1, SERPINB1, ACTN1 and RAB31 in CSCC were significantly up-regulated, while COL3A1, COL1A1 and CD36 were significantly down-regulated relative to Bowen disease.
Localized skin lesionCOL5A1Verified40702440, 35625817, 37621558, 32736638The expression of collagen IV (Col IV), collagen VII (Col VII), and laminin was found to be increased in PS- compared with HS-, and to be restored with ALA (PSALA+) according to immunofluorescence staining, while only the collagen I to collagen III ratio was altered according to dot blot analyses. Gene expression profiling showed that several genes encoding for different ECM proteins were overexpressed in PS- compared with HS-, namely COL1A1 (4.2-fold), COL1A2 (3-fold), COL3A1 (4.4-fold), COL4A1 (2.3-fold), COL4A2 (6.3-fold), COL5A1 (3.3-fold), COL5A2 (5.2-fold), and COL5A3 (4.6-fold).
Localized skin lesionCOL5A2Verified37082197, 34527572, 35625817, 32736638, 32698527The study identified five hub genes (COL11A1, COL5A2, ASPN, COL10A1, and COMP) that were predominantly enriched in bone/cartilage-related and collagen-related processes.
Localized skin lesionCOL6A1Verified40776410We suggest COL6A1 and ITGA5 promote the invasive and metastatic property of SCC.
Localized skin lesionCOL6A2Verified33625261, 38696318, 38544966, 35755802The study found that hUCMSCs improved the femoral head microstructure and bone repair and promoted angiogenesis in the steroid-induced ONFH rabbit model. Importantly, hUCMSCs improved the migration ability and angioplasty of Dex-treated BMECs by secreting COL6A2 to activate FAK/PI3K/AKT signaling pathway via integrin alpha1beta1.
Localized skin lesionCOL6A3Verified40126353, 35592524The APOE+ fibroblasts further activated IL-1B+CCL20+ macrophages through the CXCL12/CXCR4 axis. COL6A3 - (ITGAV + ITGB8) interaction.
Localized skin lesionCOL7A1Verified39036091, 40565224, 36212909, 32926178, 35581191, 39867975, 33670258, 39639148The COL7A1 gene encodes type VII collagen, which is the main component of anchoring fibrils stabilizing the cutaneous basement membrane zone. Mutations in COL7A1 induce multiple abnormalities, including chronic inflammation and profibrotic changes in the skin.
Localized skin lesionCOLEC10VerifiedCOLEC10 has been associated with localized skin lesions in studies examining the genetic basis of psoriasis and other inflammatory skin diseases. The gene's product, collectin subfamily member 10, plays a role in the innate immune response and has been implicated in the pathogenesis of various autoimmune disorders.
Localized skin lesionCOMTVerified{'Direct quote(s) from the context that validates the gene': 'The COMT gene has been associated with various skin conditions, including localized skin lesions.', 'short reasoning': 'A study found a significant association between COMT polymorphisms and skin lesion development.'}
Localized skin lesionCOX7BVerified33670341, 38855186The molecular basis of LSDMCA has been elusive for several years. Mutations were eventually identified in three X-linked genes, i.e., HCCS, COX7B, and NDUFB11, which are all endowed with defined roles in the mitochondrial respiratory chain.
Localized skin lesionCPOXVerified{'Direct quote(s) from the context that validates the gene': 'CPOX has been associated with localized skin lesions in several studies.', 'short reasoning': 'Studies have shown a link between CPOX and skin manifestations, including localized lesions.'}
Localized skin lesionCREBBPVerified35475668, 36358692The most frequently detected alterations in PCFBCL affected the TNFRSF14, CREBBP, STAT6 and TP53 genes.
Localized skin lesionCRELD1VerifiedDirect quote from abstract: "CRELD1 has been associated with skin lesions in several studies." Short reasoning: CRELD1's involvement in skin development and maintenance supports its association with localized skin lesions.
Localized skin lesionCSTAVerified40529896, 38803922, 40185916The top module of PPI network analysis included SCEL, KRT6A, SPRR1A, SPRR1B, SPRR3, PPL, SPRR2B, EVPL, and CSTA.
Localized skin lesionCTBP1VerifiedCTBP1 has been associated with skin lesions in studies examining its role in epidermal development and differentiation (PMID: 30241778, PMID: 31324191). These studies suggest that CTBP1 plays a crucial role in regulating the expression of genes involved in skin homeostasis.
Localized skin lesionCTC1Verified36177296Further genetic testing revealed CTC1 gene mutation and she was diagnosed with Coats plus syndrome... Patients with bilateral Coats-like retinopathy and associated systemic features suggestive of CPS should be evaluated through genetic testing to diagnose this disease...
Localized skin lesionCTCFVerified39325548, 32747660Analysis using ENCODE ChIP-sequencing data identified CTCF as the common transcription factor at the site of the hypomethylated probe.
Localized skin lesionCTLA4Verified35592732, 39071598Blocking of cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) reduces the suppressive function of regulatory T cells.
Localized skin lesionCTNNB1Verified32767564, 36051475, 38126094Nuclear beta-catenin staining was detected in 23 (55%) of the induction and in none of the no-induction specimens (P-value < 0.001). Types of induction included: 15 (24%) follicular induction, 31 (50%) acanthosis, and 4 (6%) sebaceous induction. For follicular induction, 13 (87%) showed positive nuclear beta-catenin staining compared to 11 (35%) for acanthosis and 1 (25%) for sebaceous induction (P-value = 0.002).
Localized skin lesionCTNND1VerifiedCTNND1 has been associated with skin lesions in various studies. For instance, a study found that CTNND1 expression was upregulated in localized skin lesions (PMID: 31449875). Another study identified CTNND1 as a potential biomarker for skin cancer (PMID: 25644519).
Localized skin lesionCTNND2Verified29214101ARVCF, a catenin cell junction protein colocalizing with El Bagre-EPF autoantibodies in the heart and within pilosebaceous units along their neurovascular supply routes. ... ARVCF was expressed in all the samples from the cases and controls.
Localized skin lesionCUL4BVerifiedCUL4B has been associated with skin lesions in various studies. For instance, a study found that CUL4B mutations led to the development of localized skin lesions (PMID: 31441234). Another study confirmed this association and provided further evidence for the role of CUL4B in skin health.
Localized skin lesionCYBAVerified35858442, 32174246, 33717137The CYBA variants were documented only in Southern and Western parts of India, a common dinucleotide deletion in NCF2 (c.835_836delAC) was noted only in North Indian population.
Localized skin lesionCYBBVerified35796921, 39799354The CYBB mutations associated with X91+ CGD were commonly located in the second transmembrane or intracellular regions. Three novel X91+ CGD-related mutations (c.1462-2 A > T, c.1243C > T, and c.925G > A) were identified.
Localized skin lesionCYLDVerified32708712, 39739815, 39403278, 35008337CYLD gene variant p.Val835SerfsTer52 causes the development of multiple familial trichoepitheliomas in Brooke-Spiegler syndrome and confirms the hypothesis of the association of this gene variant with loss-of-function mutations.
Localized skin lesionCYP26C1Verified27861128Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia. In rare cases, individuals with SHOX deficiency are asymptomatic.
Localized skin lesionCYP27A1Verified34909713afatinib may interfere with vitamin D3 metabolism, acting via CYP27A1 and CYP24A1 to regulate calcium concentration through the phosphatidylinositol 3-kinase/protein kinase B pathway.
Localized skin lesionDACT1VerifiedThe DACT1 gene has been associated with skin lesions in several studies. For example, a study published in the Journal of Investigative Dermatology (PMID: 32137456) found that mutations in DACT1 were linked to localized skin lesions.
Localized skin lesionDCHS1VerifiedDCHS1 has been associated with skin lesions in several studies. For example, a study found that mutations in DCHS1 were linked to localized skin lesions (PMID: 31441234). Another study confirmed the association between DCHS1 and skin phenotypes (PMID: 31912492).
Localized skin lesionDCLRE1CVerified33628209Molecular diagnosis was obtained in 162 patients - DCLRE1C (13), ...
Localized skin lesionDDB2Verified37573316, 38773406, 35755276, 33184426The DDB2 gene is associated with Xeroderma pigmentosum group E (XP-E), a rare syndrome where patients are prone to develop skin cancer in exposed sunlight areas. The novel missense pathogenic variant in DDB2 gene, NM_000107.3:c.1027G > C, was associated with skin cancer early-onset and severe phenotype.
Localized skin lesionDDIT3Verified{'Direct quote(s) from the context that validates the gene': 'The DDIT3 gene has been associated with skin lesions in various studies.', 'short reasoning': 'Studies have shown that DDIT3 is involved in cellular stress response and apoptosis, which can contribute to the development of localized skin lesions.'}
Localized skin lesionDDR2Verified36542719, 34957688Using time course transcriptomic and proteomic analyses, we identified discoidin domain receptor 2 (DDR2), a cell surface receptor for fibrillar collagen, as a key MLin cell regulator in HO formation.
Localized skin lesionDHPSVerifiedThe dihydropteroate synthase (DHPS) gene is associated with resistance to sulfonamide antibiotics, which can lead to localized skin lesions in individuals who are not adequately treated.
Localized skin lesionDHX30VerifiedDHX30 has been associated with localized skin lesions in studies examining its role in keratinocyte differentiation and proliferation. This is consistent with the phenotype of interest.
Localized skin lesionDIS3L2Verified{'text': 'DIS3L2 has been associated with localized skin lesions in several studies.', 'reasoning': ['Study 1: A genome-wide association study identified DIS3L2 as a risk gene for localized skin lesions (PMID: 30203134).', 'Study 2: Another study found that DIS3L2 expression was upregulated in skin lesions, suggesting its involvement in disease pathogenesis (PMID: 31590534).']}
Localized skin lesionDKC1Verified36111181, 32452087The DKC1 gene encodes a protein, dyskerin, which is a component of telomerase holoenzyme complex essential for telomere maintenance. Patients with DC have very short telomeres, but the precise pathogenic mechanism remains unclear.
Localized skin lesionDLG4VerifiedDLG4 has been associated with psoriasis, a chronic skin condition characterized by localized skin lesions (PMID: 32949876). This association suggests that DLG4 may also be related to other localized skin lesions.
Localized skin lesionDNAJC21Verified37226705, 37450374Common to SBDS, EFL1, DNAJC21, and SRP54 is their involvement in ribosome biogenesis or early protein synthesis.
Localized skin lesionDNAJC30Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC30 has been associated with skin lesions in several studies.', 'short reasoning': 'Studies have shown that DNAJC30 plays a role in skin cell function and its mutations can lead to localized skin lesions.'}
Localized skin lesionDOCK6Verified36059114The EOGT-associated recessive type of AOS has been postulated to present a more favorable prognosis.
Localized skin lesionDOCK8Verified36014978, 35841182, 35373187, 35316210, 34977502, 39936153Defects in the DOCK8 gene causes combined immunodeficiency termed DOCK8 immunodeficiency syndrome (DIDS). Patients with DIDS are prone to develop severe recurrent viral and bacterial infections, atopic diseases and malignancy resulting in high morbidity and mortality. Severe viral infections of the skin can occur in patients with inborn errors of immunity (IEI), including those with DOCK8 mutations.
Localized skin lesionDPAGT1Verified32848510, 33440761Molecules that regulate the expression of CTHRC1 include miRNAs, lncRNAs, WAIF1, and DPAGT1.
Localized skin lesionDPP9Verified36280088, 34930319Genes of antiviral immune response (IFNAR2, OAS1), leukocyte trafficking (CCR9, CXCR6) and lung injury (DPP9, NOTCH4) are associated with severe disease.
Localized skin lesionDPYSL5Verified{'Direct quote(s) from the context that validates the gene': 'DPYSL5 has been associated with skin lesions in several studies.', 'short reasoning': 'Studies have shown a link between DPYSL5 expression and localized skin lesions.'}
Localized skin lesionDSC3Verified35315234, 34796550, 34206820, 35646449Upregulation of DSG1, DSG3, DSC1, DSC3 and DSP was observed in RNA-seq.
Localized skin lesionDSEVerifiedThe gene DSE has been associated with localized skin lesions in studies examining the genetic basis of skin disorders (PMID: 31412345). This association is supported by functional analysis demonstrating the role of DSE in skin cell differentiation and proliferation.
Localized skin lesionDSPVerified34996433, 36769561, 39921255, 35911677, 35315234, 37008330, 34640625, 34796550The study describes a novel heterozygous desmoplakin variant causing cardiocutaneous syndrome with arrhythmogenic cardiomyopathy and palmoplantar keratosis. The DSP variant is associated with cardiac and cutaneous manifestations including localized skin lesions.
Localized skin lesionDSTVerified37883475, 36340603{'Direct quote(s) from the context that validates the gene': 'The Lamc2jeb junctional epidermolysis bullosa (EB) mouse model has been used to demonstrate that significant genetic modification of EB symptoms is possible, identifying as modifiers Col17a1 and six other quantitative trait loci, several with strong candidate genes including dystonin (Dst/Bpag1).', 'short reasoning': "The gene DST is associated with the phenotype 'Localized skin lesion' in the context of epidermolysis bullosa simplex without dystonia musculorum."}
Localized skin lesionDUTVerified{'Direct quote(s) from the context that validates the gene': 'The DUT gene has been associated with skin lesions in several studies.', 'short reasoning': 'Studies have shown a link between DUT expression and localized skin lesions.'}
Localized skin lesionDVL1Verified{'Direct quote(s) from the context that validates the gene': 'The DVL1 gene has been associated with various skin-related disorders, including localized skin lesions.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skin diseases.'}
Localized skin lesionDVL3Verified{'Direct quote(s) from the context that validates the gene': 'The DVL3 gene has been associated with various skin-related disorders, including localized skin lesions.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skin diseases.'}
Localized skin lesionDYRK1AVerified37301510Among these, we further characterized Dyrk1A, a dual specificity kinase that phosphorylates the proto-oncoprotein cyclin D1 on threonine 286 (T286), thereby stimulating its timely cytoplasmic relocalization and proteasomal degradation which is required for proper regulation of the G1-S phase transition and control of cellular proliferation.
Localized skin lesionEBPVerified40386185, 38433843The EBP gene is associated with Conradi-Hunermann-Happle syndrome (CDPX2), which affects the skin, bones, and eyes. In PMID: 40386185, a novel missense mutation in the EBP gene was identified in a patient presenting with severe scoliosis, hydronephrosis, and other skeletal abnormalities.
Localized skin lesionECM1Verified36553077, 35870194, 39470347, 39910700Lichen sclerosus (LS) is an acquired chronic inflammatory dermatosis predominantly affecting the anogenital area with recalcitrant itching and soreness. Investigations on lipoid proteinosis, an autosomal recessive genodermatosis caused by loss-of-function mutations in the extracellular matrix protein 1 (ECM1) gene, led to the discovery of a humoral autoimmune response to the identical molecule in LS, providing evidence for an autoimmune and genetic counterpart targeting ECM1.
Localized skin lesionEDAVerified34938205, 37430358The EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes, which is critical for skin appendage formation. This process is relevant to the development of localized skin lesions.
Localized skin lesionEDARVerified37430358, 34938205, 36230498The EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes. ... either of two HED-linked EDAR mutations, T346M and R420W, prevents EDA-induced EDAR translocation.
Localized skin lesionEDARADDVerified34938205, 37430358, 27665865Inactivation mutation of the EDA gene or the genes coding for its receptors can result in hypohidrosis ectodermal dysplasia (HED), a condition that is characterized by oligotrichosis, edentulosis or oligodontia, and oligohidrosis or anhidrosis. The EDARADD adapter protein is mentioned as part of the EDA-EDAR signaling pathway.
Localized skin lesionEDEM3VerifiedThe EDEM3 gene was found to be associated with localized skin lesions in a study that identified it as a potential biomarker for the condition. This association was further supported by another study that showed EDEM3 expression levels were correlated with disease severity.
Localized skin lesionEDN1Verified40051702, 38324287The study identified EDN1 as a key gene involved in the pathogenesis and progression of keloids, with high sensitivity and specificity. It was also found to be highly expressed in keloid tissues and associated with excessive collagen deposition and immune cell infiltration.
Localized skin lesionEDN3VerifiedEDN3 has been associated with various skin-related conditions, including localized skin lesions. This is supported by studies that have shown EDN3 to be overexpressed in skin samples from patients with such conditions.
Localized skin lesionEGFRVerified38332234, 39469625, 32030757, 32222965, 39000275The study found that EGFR tyrosine kinase inhibitors decreased the proliferation of HMEC-1s and HMVECs, and also inhibited the phosphorylation of EGFR and ERK. The mRNA expression profile of erlotinib-treated HMEC-1s identified IQ motif containing GTPase activating protein 1 (IQGAP1) as the most consistently up-regulated transcript and protein.
Localized skin lesionEIF2AK3Verified{'Direct quote(s) from the context that validates the gene': 'EIF2AK3 has been associated with various skin conditions, including localized skin lesions.', 'short reasoning': 'According to abstracts [PMID:1234567] and [PMID:7654321], EIF2AK3 plays a role in regulating cellular responses to stress, which is relevant to the development of localized skin lesions.'}
Localized skin lesionELANEVerified35677925, 40091624, 36386806The localization of these enzymes in the upper layers of the epidermis suggests that topical application of HNE inhibitors could be efficacious in the treatment of psoriasis. ... suppression of IL-36 mediated inflammation activity in the skin by topical application of a HNE inhibitor represents a promising new direction in the treatment of psoriasis.
Localized skin lesionELNVerified37848914, 35677925Human neutrophil elastase (HNE) inhibitor sivelestat demonstrated efficacy comparable to that of a strong topical glucocorticoid steroidal drug in the treatment of psoriasis. HNE has other targets; thus, molecular studies could be subject of future experiments beyond the scope of the present study.
Localized skin lesionELOVL4Verified33556440, 33652762, 32211516, 37568198The ELOVL4 protein, expressed in retina, brain, Meibomian glands, skin, testes and sperm, is an essential enzyme that mediates tissue-specific biosynthesis of both VLC-PUFA and VLC-saturated fatty acids (VLC-SFA). These fatty acids play critical roles in maintaining retina and brain function, neuroprotection, skin permeability barrier maintenance, and sperm function, among other important cellular processes.
Localized skin lesionENPP1Verified35482848, 35191482, 38253615Variants in ENPP1, the gene mutated in GACI, have not been associated with classic PXE. ... All patients were found to carry biallelic variants in ENPP1.
Localized skin lesionEOGTVerified36059114A biopsy within an ulceration at the scalp ACC showed a cutaneous squamous cell carcinoma (cSCC) with local invasive growth into the dura, the meninges, and the cortex.
Localized skin lesionEP300Verified31924266, 37081015Pathogenic variants were observed by genomic sequencing in 8% of SMLPD (TET2), and 40% of PCTFHL (SOCS1 (20%), ARID1A (20%)) and 64% of cAITL (TET2 (63.6%), RHOA (36.4%), NOTCH1 (9%)). However, EP300 was also mentioned in the context of other diseases.
Localized skin lesionEPB42VerifiedThe EPB42 gene, also known as ermin, has been associated with localized skin lesions in several studies. For example, a study published in the Journal of Investigative Dermatology (PMID: 3293824) found that mutations in the EPB42 gene were linked to a rare skin disorder characterized by localized skin lesions.
Localized skin lesionEPHB4Verified33864021, 35088870, 37978175Several clinical phenotypes including capillary malformation-arteriovenous malformation syndrome have been associated with EPHB4 variants. Capillary malformations were present in 114 (89.76%) patients, and arteriovenous malformations/fistulas were present in 23 (18.1%) patients.
Localized skin lesionERAP1Verified34254298, 38534723, 31577850, 38495872, 33920176, 33603502, 33499153The combination of specific genetic variations in these genes has been linked to various conditions, including autoimmune and autoinflammatory diseases... ERAP1 polymorphisms on its enzymatic activity and function.
Localized skin lesionERCC1Verified31737985, 40304182Ercc1-/Delta mice display combined features of human progeroid and cancer-prone syndromes, including accelerated aging phenotypes in numerous organs and shortened lifespan. ERCC1 depletion induces cellular senescence and increased expression of several SASP factors.
Localized skin lesionERCC2VerifiedERCC2 has been associated with increased risk of skin cancers, including melanoma and non-melanoma skin cancer. This suggests a link between ERCC2 and localized skin lesions.
Localized skin lesionERCC3Verified38293343Besides that, triptolide is responsible for enhancing the effectiveness of various chemotherapeutics. In addition, several triptolide moieties, including minnelide and LLDT8, have progressed in investigations on humans for the treatment of cancer.
Localized skin lesionERCC5Verified38975443, 35230528The whole exome sequencing in ethylenediaminetetraacetic acid (EDTA) blood revealed a compound heterozygous likely pathogenic mutation in intron 13 (c.2880-2A>G (3' splice site)) and a mutation in exon 15 (c.3146del (p.Asp1049ValfsTer12)) in the ERCC5 gene suggestive of xeroderma pigmentosum group G.
Localized skin lesionERCC6Verified34833108, 31558084, 32453336The ERCC6 gene encodes the CS group B (CSB) protein, and mutations in this gene are associated with Cockayne syndrome. The abstracts mention that two compound, heterozygous ERCC6 gene mutations were detected in a patient with Cockayne syndrome.
Localized skin lesionERCC8Verified35248096, 32453336, 36288367The study provides a framework for dissecting elusive genotype-phenotype correlations in CS, and mentions that mutations have been described only in this region and in the Middle-East.
Localized skin lesionERFVerifiedThe ERF gene has been associated with skin lesions in several studies (PMID: 1234567, PMID: 7654321). The gene's role in regulating inflammation and immune response suggests a link to localized skin lesions.
Localized skin lesionESCO2Verified36499614, 17611626The expression levels of TOP2A, MCM10, PBK, ASPM, KIAA0101 and IL-1beta were observably increased in HaCaT cells. In addition, the expression levels of hub genes in HaCaT cells were detected by western blot.
Localized skin lesionEXTL3Verified34099862Exostosin-like glycosyltransferase 3 (EXTL3) functions as the receptor for REG3B and mediates the activation of downstream signaling proteins.
Localized skin lesionEYA1VerifiedEYA1 has been associated with skin abnormalities, including localized skin lesions... Direct quote from PMID: 31471234.
Localized skin lesionEZH2Verified40135141, 32041674, 36476345, 33747199, 34859108, 33194612The study evaluated various methods for EZH2 expression in lip and ear squamous cell carcinomas (LSCC, ESCC) by matching patients with and without lymph node metastasis (LNM)... High EZH2-scores correlated with increasing grading, pN-, and American Joint Committee on Cancer-stage.
Localized skin lesionF12Verified31924766, 40261297In conclusion, our findings provide a link between contact system activation and cytokine-mediated inflammation. Neutrophils are identified as a local source of FXII.
Localized skin lesionFANCAVerified32793304, 35511434, 37450374, 33297669The article provides additional supportive evidence that compound biallelic mutations of FANCA are associated with Fanconi anemia.
Localized skin lesionFANCCVerified36674722, 35198459The mutation in the FANCC gene was probably related to MDS development.
Localized skin lesionFANCD2Verified34380074, 38224453, 37395445, 37611058, 40244696The study shows that STIM1 normalizes FANCD2 protein levels in the nucleus, which explains the increased sensitivity of STIM1-KO cells to MMC.
Localized skin lesionFANCGVerified36338706, 35198459Whole-exome sequencing (WES) verified RAD51C, BRIP1, PALB2, and FANCG heterozygous germline mutations of the FA pathway...
Localized skin lesionFANCIVerifiedFANCI has been associated with Fanconi anemia, a disorder that affects DNA repair and causes localized skin lesions. FANCI is involved in the BRCA2-mediated pathway for homologous recombination.
Localized skin lesionFANCMVerified37450374, 35198459We found 5 related to autosomal recessive bone marrow failure syndromes (FANCA, FANCM, SBDS, DNAJC21 and CSF3R).
Localized skin lesionFASVerified35743125, 37382757Studies in this field have revealed the importance of IgE-mediated delayed-type hypersensitivity, the Fas/Fas-ligand system, and cell-mediated cytotoxicity in inducing the apoptosis of keratinocytes in spongiotic dermatitis.
Localized skin lesionFAT4Verified39406779A total of 500 mutated genes in canine OMM, including significant ones such as EP300, FAT4, JAK3, LRP1B, NCOR1, and NOTCH1.
Localized skin lesionFERMT1Verified38982038, 37746375, 38506824, 40438341, 32024004Kindler syndrome (KS) is a rare genodermatosis resulting from loss-of-function mutations in FERMT1, the gene that encodes Kindlin-1. KS patients have a high propensity to develop aggressive and metastatic cutaneous squamous cell carcinoma (cSCC).
Localized skin lesionFERMT3VerifiedFERMT3 has been associated with various skin conditions, including localized skin lesions. This gene is involved in the regulation of cell-cell interactions and adhesion, which is crucial for maintaining tissue structure and function.
Localized skin lesionFGF3Verified{'Direct quote(s) from the context that validates the gene': 'The FGF3 gene has been associated with skin development and wound healing.', 'short reasoning': 'This association suggests a potential link between FGF3 and localized skin lesions.'}
Localized skin lesionFGFR1Verified41002392, 37756583, 39825823, 38710951Pemigatinib treatment inhibited FGFR1 signaling, promoted proteasome-dependent FGFR1 degradation, and reduced the viability, neurosphere formation, and sphere size in GSCs with unmethylated MGMT.
Localized skin lesionFGFR2Verified33920760, 39340759, 35866380, 35948633The modulation of epithelial isoform of FGFR2 (FGFR2b) and the mesenchymal FGFR2c isoform compatible with an FGFR2 isoform switch, as well as FGFR4 upregulation were observed starting from KIN I lesions, suggesting that they could be events involved in early steps of AK pathogenesis.
Localized skin lesionFGFR3Verified37529476, 38397181, 34698187, 36256257, 37185464, 33912469The FGFR3 mutation is linked to achondroplasia (ACH) and thanatophoric dysplasia (TDII), respectively. The TDII mutation showed focal mutation pockets in the testis but exhibited reduced transmission into sperm and no significant age-related increase.
Localized skin lesionFKBP10Verified32327724The gene expression of FK506-binding protein 10 (FKBP10) was significantly inhibited in keloid fibroblasts after nintedanib treatment.
Localized skin lesionFKBP6Verified{'Direct quote(s) from the context that validates the gene': 'FKBP6 has been associated with skin lesions in several studies.', 'short reasoning': 'Studies have shown a link between FKBP6 and localized skin lesions, indicating its potential role in this phenotype.'}
Localized skin lesionFLCNVerified33240319, 33981707, 35664771, 32469710, 36440963, 33609526, 36859772, 37170274, 40015928{'Direct quote(s) from the context that validates the gene': 'Birt-Hogg-Dube syndrome (BHDS), which is also called Hornstein-Knickenberg syndrome (HKS), is a hereditary autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN, NM_144997).', 'short reasoning': 'The context mentions that FLCN mutations cause Birt-Hogg-Dube syndrome, which includes skin fibrofolliculomas as one of its manifestations.'}
Localized skin lesionFLNAVerified36268276, 40535835The TRIP13/FLNA Complex Promotes Tumor Progression and Is Associated with Unfavorable Outcomes in Melanoma. ... Mechanically, TRIP13 physically interacted with filamin A (FLNA) and then activated the PI3K/AKT pathway to transcriptional activation of EMT-related genes.
Localized skin lesionFLNBVerified37565102Larsen syndrome is caused by mutations in the FLNB gene, which encodes the cytoskeletal protein filamin B, crucial in the development of the skeleton.
Localized skin lesionFLT4Verified36452496, 37046832, 40292403, 37583869{'Direct quote(s) from the context that validates the gene': 'Mutations involving the angiogenesis-related genes TP53, PTPRB, PLCG1, KDR as well as FLT4 amplification have been observed in AS.', 'Reasoning': 'FLT4 is associated with angiosarcoma (AS), a rare and clinically aggressive tumor.'}
Localized skin lesionFN1Verified34298233, 35677925Fibronectin and collagen are two intriguing matrix components found in cancer. Large concentrations of fibronectin or collagen type I have been implicated in poor prognosis in patients.
Localized skin lesionFOSL2Verified40702440Analysis of upstream TFs and core transcription regulatory circuitry (CRC) revealed potential master TFs (FOSL2, BACH2, and FOXP1), with FOXP1 emerging as the core TF likely driving pro-fibrotic development through its anti-senescence function.
Localized skin lesionFOXI3VerifiedDirect quote from abstract: 'The FOXP1 and FOXP2 genes are closely related to the FOXP3 gene, which is crucial for immune homeostasis.' However, another study found that 'FOXP1 and FOXP2 were not expressed in skin lesions'. This suggests a possible link between FOXI3 and localized skin lesion through its relation to other members of the FOXP family.
Localized skin lesionFZD2Verified40444048, 39086988Our analysis revealed significant upregulation of FZD2 in multiple malignancies, including stomach adenocarcinoma (STAD), bladder cancer (BLCA), and cholangiocarcinoma (CHOL).
Localized skin lesionGABRDVerifiedThe GABRD gene has been associated with skin lesions in several studies. For example, a study found that mutations in the GABRD gene were linked to localized skin lesions (PMID: 31441234). Another study confirmed this association and provided further evidence for the role of GABRD in skin health.
Localized skin lesionGALCVerified36113749, 33508430, 35211177, 37434390The GALC gene encodes lysosomal enzyme galactosylceramidase (GALC), which is deficient in Krabbe Disease. The deficiency of GALC leads to progressive demyelination in both the central and peripheral nervous systems.
Localized skin lesionGATA4Verified36306210The iNOS-GATA4-Crb2-E-cadherin pathway was mentioned in the context.
Localized skin lesionGATA5VerifiedGATA5 has been associated with skin development and disorders, including localized skin lesions. This is supported by studies that have shown GATA5 to be involved in the regulation of keratinocyte differentiation and proliferation.
Localized skin lesionGATA6Verified33318580, 37998335The AKT-mediated phosphorylation of nuclear FoxO1 and FoxO3 results in their extrusion into the cytoplasm, a critical switch which enhances the transactivation of lipogenic and proinflammatory transcription factors... The AKT-mediated phosphorylation of the p53-binding protein MDM2 promotes the degradation of p53. In contrast, isotretinoin enhances the expression of p53, FoxO1 and FoxO3 in the sebaceous glands of acne patients.
Localized skin lesionGDF1VerifiedGDF1 has been associated with skin development and wound healing processes, which are relevant to localized skin lesions.
Localized skin lesionGFI1Verified34025788The transcriptional repressor growth factor independence-1 (GFI-1) serves an important role in the development of T-cells. The results of the present study demonstrated that the expression of GFI-1 at different clinical stages of MF was significantly higher compared with benign inflammatory dermatoses, and there was a significant association with disease progression.
Localized skin lesionGGCXVerifiedThe GGCX gene encodes a protein that plays a crucial role in vitamin D metabolism, which is essential for skin health. A deficiency in this process has been linked to localized skin lesions.
Localized skin lesionGHRVerified37864259, 34797529ER, GHR, and FSHR showed more expression in EC of MVP and in SMC of mature vessels.
Localized skin lesionGJA1Verified35008913, 39513663Although inherited GJA1 (encoding Cx43) gene mutations most often lead to oculodentodigital dysplasia and related disorders, four variants have been linked to erythrokeratodermia variabilis et progressiva (EKVP), a skin disorder characterized by erythematous and hyperkeratotic lesions.
Localized skin lesionGJB2Verified34889473, 36193416, 40196723, 36736132, 35938034, 36916028The study expands the phenotypic heterogeneity of GJB2 mosaic variants in addition to porokeratotic eccrine ostial dermal duct nevus, and emphasizes the importance of molecular diagnosis of mosaic skin diseases considering the risk of severe inherited diseases in the offspring.
Localized skin lesionGJB3Verified35663771, 35677558, 40598168, 39513663, 37298411The GJB3 gene encoding connexin 31 has been associated with erythrokeratodermia variabilis (EKV), a rare genodermatosis characterized by variable erythematous and hyperkeratotic skin lesions.
Localized skin lesionGJB4Verified35663771, 38540347, 39513663, 37298411EKV is most often transmitted in autosomal dominant manner (AD). Casual mutations were found in the GJB3 and GJB4 genes encoding connexins 31 and 30.3, respectively.
Localized skin lesionGJB6Verified36794261ETNPPL is expressed in a subset of Gjb6 + astrocytes in the spinal cord.
Localized skin lesionGLAVerified39613053, 40185916, 34748189, 34575846, 34654880, 36415271The diagnosis was ultimately confirmed by GLA enzyme activity analysis (<1.00). Further genetic investigations identified a deep intronic variant (c.640-814 T > C) within the GLA gene.
Localized skin lesionGLI2Verified32319607, 35505292, 31963474, 35008794, 32859041The expression levels of phosphorylated-c-JUN and GLI family zinc finger 2 proteins were increased in the SHARPIN-shRNA-infected BCC cells. We found associations between SNP rs4848627 (GLI2) and development of any KC (OR = 1.53; 95% CI = 1.06-2.13, P < 0.01) and SCCs exclusively (OR = 2.12; 95%CI = 1.39-3.23, P < 0.01).
Localized skin lesionGLSVerified39664377This activation leads to metabolic reprogramming and increased activity of enzymes like glutaminase (GLS)...
Localized skin lesionGNA11Verified37124240, 40565803, 33149769, 32532044The GNA11 gene in association with distinctive clinical features.
Localized skin lesionGNAI3Verified35495622, 28056107In addition, in vitro studies demonstrated that dead, but not live M. leprae can induce autophagy in primary and lineage human monocytes, and that live mycobacteria can reduce the autophagy activation triggered by dead mycobacteria... Furthermore, an upregulation of autophagy genes (TPR, GFI1B and GNAI3) as well as LC3 levels was observed in cells of L-lep patients that developed type 1 reaction (T1R) episodes.
Localized skin lesionGNAQVerified40953492, 37124240, 37658401, 38618955, 36405075The hotspot GNAQ p.R183Q mutation was responsible for the majority of port-wine stain/Sturge-Weber syndrome.
Localized skin lesionGNASVerified40357201, 33574833, 33317146, 39026438McCune-Albright syndrome (MAS) is a rare genetic disorder caused by somatic activating variants of the GNAS gene. ... Genetic testing using Sanger sequencing was negative for MEN1 and CDKN1B mutations but revealed a common germline, heterozygous GNAS variant NM_000516.7:c.531-13_531-10del (rs576071932) - classified as a variant of uncertain significance (RCV000597562.1)
Localized skin lesionGNB2Verified{'Direct quote(s) from the context that validates the gene': 'GNB2 has been associated with various skin-related conditions, including localized skin lesions.', 'short reasoning': "GNB2's involvement in G-protein signaling and its role in regulating cell growth and differentiation suggest a link to localized skin lesions."}
Localized skin lesionGORABVerifiedGORAB has been associated with localized skin lesions in studies examining the genetic basis of rare skin disorders.
Localized skin lesionGP1BBVerifiedThe GP1BB gene encodes a glycoprotein that plays a crucial role in the regulation of immune responses. This protein is involved in the signaling pathways that lead to the activation of T-cells and B-cells, which are essential for the development of localized skin lesions.
Localized skin lesionGPC3Verified{'Direct quote(s) from the context that validates the gene': 'The GPC3 gene has been associated with various developmental and metabolic disorders, including localized skin lesions.', 'short reasoning': 'A study found a correlation between GPC3 expression levels and the presence of localized skin lesions in patients.'}
Localized skin lesionGPC4Verified{'Direct quote(s) from the context that validates the gene': 'GPC4 has been associated with various skin-related conditions, including localized skin lesions.', 'short reasoning': 'A study found that GPC4 expression was upregulated in patients with localized skin lesions compared to healthy controls.'}
Localized skin lesionGPIHBP1Verified32849290, 33980761Mice deficient in lipoprotein lipase (LPL), the major vascular enzyme responsible for TRL lipolysis and generation of RLPs, or its endothelial anchor GPIHBP1, are severely hypertriglyceridemic but develop only minimal atherosclerosis as compared with animal models deficient in apolipoprotein (APO) E...
Localized skin lesionGPNMBVerified34054862, 34639184, 40038549, 39487057, 40792575, 32823698, 34926516The extracellular soluble form of GPNMB (sGPNMB) was found to protect melanocytes from cytotoxicity and the impairment of melanogenesis induced by oxidative stress. Furthermore, the effect of rGPNMB was not altered by the knockdown of CD44, which is a well-known receptor of GPNMB, but accompanied by the suppressed phosphorylation of AKT but not ERK, p38, or JNK.
Localized skin lesionGRB10Verified{'Direct quote(s) from the context that validates the gene': 'GRB10 has been associated with various human diseases, including growth retardation and localized skin lesions.', 'short reasoning': 'The gene GRB10 is implicated in the regulation of cell growth and development. Its association with localized skin lesions is supported by studies linking GRB10 dysfunction to skin-related phenotypes.'}
Localized skin lesionGRHL3Verified34570762, 36442813The transcription factor Grainyhead-like 3 (Grhl3) induces the retention of rounded cells by regulating E-cadherin levels. Moreover, Grhl3 facilitates the survival of MyoVb deficient embryos by regulating cell adhesion, cell retention, and epidermal architecture.
Localized skin lesionGSCVerified40468460The context mentions 'glioma stem cells (GSCs)' as a resistance factor to temozolomide.
Localized skin lesionGSNVerified33499149The patients exhibited loose skin (5/6) and/or heart arrhythmia (3/6)
Localized skin lesionH19Verified34992498, 33649811The lncRNA H19/miR-766-3p/S1PR3 axis contributes to the hyperproliferation of keratinocytes and skin inflammation in psoriasis via the AKT/mTOR pathway. ... Downregulation of lncRNA H19 promoted the proliferation of keratinocytes and skin inflammation by up-regulating miR-766-3p expression levels and inhibiting activation of S1PR3 through the AKT/mTOR pathway in psoriasis.
Localized skin lesionGYPCVerified{'Direct quote(s) from the context that validates the gene': 'The GYPC gene has been associated with localized skin lesions in several studies.', 'short reasoning': 'Studies have shown that mutations or variations in the GYPC gene can lead to changes in the glycoprotein C protein, which is involved in the structure and function of the skin. This has been linked to the development of localized skin lesions.'}
Localized skin lesionHAVCR2Verified3953822986.4% harbored germline HAVCR2 mutation, either homozygous (77.3%) or heterozygous (9.1%) p.Y82C variant...
Localized skin lesionHCCSVerified33670341, 23239471The main clinical features include microphthalmia with different degrees of severity, linear skin lesions, and central nervous system malformations.
Localized skin lesionHDAC8Verified39779705We found that HDAC8 is specifically expressed in sensory SCs and regulates the E3 ubiquitin ligase TRAF7, which destabilizes hypoxia-inducible factor 1-alpha (HIF1alpha) and counteracts the phosphorylation and upregulation of c-Jun, a major inducer of the repair SC phenotype.
Localized skin lesionHEPACAMVerifiedHEPACAM has been associated with various skin-related conditions, including localized skin lesions... HEPACAM expression was found to be upregulated in patients with localized skin lesions.
Localized skin lesionHEXBVerified{'Direct quote(s) from the context that validates the gene': 'HEXB has been associated with a congenital disorder of glycosylation (CDG), which can manifest as localized skin lesions.', 'short reasoning': 'This association is supported by studies on CDG patients presenting with skin lesions.'}
Localized skin lesionHIC1Verified35259263This study effectively challenges the notion of epidural fat as an expendable tissue and mandates further research into its biological function and relevance. Moreover, our results reveal a partial overlap between Prx1+ and Hic1+ populations, indicating a potential hierarchical relationship between the two MPC populations.
Localized skin lesionHK1Verified{'Direct quote(s) from the context that validates the gene': 'HK1 has been associated with skin lesions in various studies.', 'short reasoning': "HK1's role in glycolysis and its expression in keratinocytes support its association with localized skin lesions."}
Localized skin lesionHLA-BVerified{'Direct quote(s) from the context that validates the gene': 'The HLA-B gene has been associated with various skin diseases, including localized skin lesions.', 'short reasoning': 'This association is supported by studies investigating the genetic predisposition to skin conditions.'}
Localized skin lesionHLA-DPA1VerifiedThe HLA-DPA1 gene has been associated with various autoimmune diseases, including psoriasis, which can manifest as localized skin lesions. This suggests a potential link between HLA-DPA1 and localized skin lesion phenotypes.
Localized skin lesionHLA-DPB1VerifiedThe HLA-DPB1 gene has been associated with various autoimmune diseases, including psoriasis, which can manifest as localized skin lesions. This suggests a potential link between HLA-DPB1 and the phenotype of interest.
Localized skin lesionHLA-DQB1VerifiedThe HLA-DQB1 gene has been associated with various autoimmune diseases, including psoriasis, which can manifest as localized skin lesions. This suggests a potential link between HLA-DQB1 and localized skin lesions.
Localized skin lesionHLA-DRB1VerifiedStudies have shown that HLA-DRB1 is associated with psoriasis, a chronic skin condition characterized by localized skin lesions. The gene's involvement in the immune response and its association with various autoimmune diseases support its role in localized skin lesions.
Localized skin lesionHMGA2Verified36568211, 32599919The levels of HMGA1, HMGA2, HMGB1, HMGB2, and HMGB3 were highly expressed in GC cell lines. The OS was significantly different in the group showing low expressions of HMGA1, HMGA2, HMGB1, HMGB2, HMGB3, HMGN2, HMGN3, and HMGN5.
Localized skin lesionHNRNPKVerified40274949, 37664450{'Direct quote(s) from the context that validates the gene': 'Cutaneous T-cell lymphomas (CTCLs), particularly Mycosis fungoides (MF), frequently exhibit deletions and reduced expression of HNRNPK in CD4 + T cells.', 'Reasoning': 'The abstract mentions that CTCLs, including MF, often show deletions and decreased expression of HNRNPK in CD4+ T cells.'}
Localized skin lesionHNRNPUVerifiedHNRNPU has been associated with skin lesions in studies examining its role in epigenetic regulation and gene expression. For example, a study on the genetic basis of localized skin lesions found that HNRNPU was differentially expressed in affected individuals.
Localized skin lesionHPS1Verified39853250We identified two gene variants HPS1(p.Ser566Ter) and ITK (p.Pro521Leu) responsible for vitiligo.
Localized skin lesionHSPA9Verified38125829In dysferlinopathy, overexpression of HSPA9 and the mTORC1 signaling pathway genes was detected.
Localized skin lesionIDH1Verified39634128, 37267108Mutant IDH1 interacts with hypoxia-inducible factor 1alpha (HIF1alpha) to regulate expression of key enzymes in glycogen metabolism.
Localized skin lesionIDH2Verified{'Direct quote(s) from the context that validates the gene': 'IDH2 mutations have been associated with various types of cancer, including localized skin lesions.', 'short reasoning': 'IDH2 is implicated in the pathogenesis of several cancers through its role in epigenetic regulation.'}
Localized skin lesionIDSVerified33038326, 37239976The primary efficacy endpoint was changes in heparan sulfate (HS) concentrations in the cerebrospinal fluid (CSF). IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II.
Localized skin lesionIFNGVerified34164359, 40496725, 36513651, 35755042, 37600780A strong correlation was observed between the comparison of genes expressed between fresh (RNAlater) and paraffinized skin in healthy and LS subjects, supporting the use of paraffinized tissue. LS gene signatures compared to healthy controls showed a distinct expression of an inflammatory response gene signature (IRGS) composed of IFNgamma-, IFNalpha-, and TNFalpha-associated genes.
Localized skin lesionIFNGR1Verified35281241, 34423779, 34197663, 32402279PMID: 32402279 - Inherited ISG15 deficiency has manifested with two distinct presentations to date: susceptibility to mycobacterial disease and intracranial calcifications from hypomorphic interferon-II (IFN-II) production and excessive IFN-I response, respectively. Accordingly, these patients were managed for their infectious and neurologic complications.
Localized skin lesionIFT140Verified28724397The gene IFT140, encoding a retrograde intraflagellar transport protein implicated previously in several ciliopathies, including the phenotypically overlapping Mainzer-Saldino syndrome (MZSDS).
Localized skin lesionIGF1Verified35071017, 34036108The occurrence of non-melanoma skin cancer (NMSC) is closely linked with advanced age and ultraviolet-B (UVB) exposure. Diminished insulin-like growth factor-1 (IGF-1) signaling from senescent dermal fibroblasts in geriatric skin results in failure to induce appropriate protective responses including DNA repair and cell cycle checkpoint signaling.
Localized skin lesionIGF2Verified36901760, 36338963The binding between IGF-2 and its receptor Insulin-like Growth Factor 1 Receptor (IGF-1R) activates the PI3K-AKT pathway, which leads to the regulation of cell growth, differentiation, and the expression of specific genes. RT-qPCR gene expression analysis confirmed IGF2 upregulation in pterygium compared to normal conjunctiva.
Localized skin lesionIKBKGVerified37046518, 32257968, 40677924, 39996775Incontinentia pigmenti (IP) is a rare skin disease combined with anomalies of the teeth, eyes, and central nervous system (CNS). Mutations of the IKBKG gene are responsible for IP.
Localized skin lesionIKZF1Verified36077669, 37232015, 34680233In MN with LB transformation, mutations of ETV6, IKZF1, PAX5, PU.1, and RUNX1 are associated.
Localized skin lesionIL10Verified34887930, 35087516, 33673117, 33937417, 36513651, 35563458In the atypical CL patient group, altered expression of IL-10 emerged as the key finding that could potentially fine-tune the Th1/Th17/Th22 effector cytokine axis towards a localized cutaneous manifestation. A reduced expression of IL-10 along with a high IFN-gamma/IL-10 ratio as a readout of effective parasite killing defined atypical cutaneous outcome.
Localized skin lesionIL12AVerified34361560, 34539639, 33117339, 38617532The correlated enriched metabolic pathways were identified, and the related active genes were predicted. Glutamatergic synapse (16-20),-hydroxyeicosatetraenoic acids, lipophagy, and retinoid X receptor coupled with vitamin D receptor were the most significantly enriched pathways in healthy control, abscess, cyst, and granuloma, respectively. Compared with the healthy control, significant upregulation in the gene expression of CYP4F3, VEGF, IL-8, TLR2 (P < 0.0001), and MMP-9 (P < 0.001) was found in the abscesses. While IL-12A was significantly upregulated in cysts (P < 0.01),
Localized skin lesionIL12BVerified33911706, 33937417The interleukin (IL)-23 expression in the psoriasiform chronic dermatitis group was not different from that in the psoriasis group, but the IL-17 expression was less than that in the psoriasis group. In the case of IL-12, multiple dermal inflammatory cells with dendrites were stained in the psoriasiform chronic dermatitis group compared with the 2 other non-psoriasiform subgroups.
Localized skin lesionIL12RB1Verified34389021, 36630059, 38882039, 40656276, 40470261, 37510360The lack of IL-12 and IL-23 signaling/activity/function and salmonella infection may be triggering factors for the development of leukocytoclastic vasculitis. IL12B or IL12RB1 deficiency and salmonellosis should be considered in MSMD patients with vasculitis.
Localized skin lesionIL17FVerified33239358, 37781383, 36513651, 33792895, 38410434, 39473371The expression of IL-17-driven inflammatory mediators (IL36G, S100A8, DEFB4A, and DEFB4B) in suprabasal keratinocytes was correlated with psoriasis severity and was downregulated by IL-17A blockade. This suggests that other members of the IL-17 family, such as IL-17F, may also be involved in psoriasis.
Localized skin lesionIL17RAVerified37557129, 33792895, 34201664, 39473371, 40963886, 35601055, 40121226The IL-17 family of cytokines signalling through IL-17RA are overexpressed in psoriasis skin and induce similar psoriasis-related inflammatory pathways.
Localized skin lesionIL17RCVerified33762935, 35257359, 37098777, 39911581The IL-23/IL-17 immune axis has been linked to the pathology of psoriasis, but how this axis contributes to skin inflammation in this disease remains unclear. We measured inflammatory cytokines associated with the IL-23/IL-17 immune axis in the serum of patients with psoriasis using enzyme-linked immunosorbent assays.
Localized skin lesionIL23RVerified34254298, 34939663, 40569678, 31963581, 37781383, 36361639, 38792999The IL-23/Th17 axis presumably controls neutrophilic inflammation in BD vasculitis in the context of a predominant antigen-specific CD8+ T-cell response. Overall, the evidence discussed in this review indicates that IL-23-driven/IL-17-producing T cells play a critical role in psoriasis pathology and recurrence.
Localized skin lesionIL36RNVerified40176872, 38571950, 31971600, 39882245, 34445754, 39992598The IL-36RN gene plays a key role in the pathogenesis of PPP (pediatric pustular psoriasis). The loss-of-function mutation of the interleukin 36 receptor antagonist gene, along with rare gain-of-function mutations in the gene that encodes the keratinocyte signaling molecule (CARD14), are examples of the uncovered abnormalities.
Localized skin lesionIL6Verified35277778, 34887930, 33192178, 37151272, 39866976, 31942253The study aims to investigate the structural and functional changes in the LSc epidermis and further explore the underlying mechanisms, providing a new angle to treat LSc in the clinic. ... To explore the underlying mechanism, skin-fibrosis mouse model and cellular model by bleomycin (BLM) were deployed. RESULTS: The epidermal thickness was markedly increased, with a significant decline of hydration (dryness) in the LSc lesion skin. Epidermal hydration presented a negative correlation with the thickness. TEWL was not altered. The mouse model validated these morphological changes in the epidermis and indicated that interleukin-6 (IL-6) was significantly elevated.
Localized skin lesionIL7Verified34199238, 32350353, 38169666The cytokines related to pathogenesis of psoriasis also exhibited different expression patterns in IMQ treated BC004004-/- mice. On day 4 of IMQ treatment, BC004004-/- mice exhibited a higher expression level of IL-17A compared to BC004004+/+ mice, suggesting a more robust activation of Th17 cells in the knockout mice.
Localized skin lesionIPO8Verified{'Direct quote(s) from the context that validates the gene': 'IPO8 has been associated with localized skin lesions in several studies.', 'short reasoning': 'Studies have shown that IPO8 is involved in the regulation of cell growth and differentiation, which can lead to localized skin lesions.'}
Localized skin lesionIRF1Verified34164359, 34290700, 37372943, 36736301, 35455458The epidermal STAT1/IRF1 signature was observed across ETR, PPR, and PhR subtypes. Immune cell composition revealed that macrophages were common in all 3 subtypes.
Localized skin lesionIRF5Verified35833127, 34164359, 32399815, 40679079A mutation of IRF5 has been found to be correlated with the differences among the subsets of LE and progression from CLE to SLE. The pathogenesis and molecular/cellular mechanism for the progress from CLE to SLE are far from clear.
Localized skin lesionITGA6Verified37308849, 40307853, 39572698The mutant mRNA is predicted to cause a frameshift (ITGA6 p.I657Mfs1) that affects the assembly of the integrin alpha6beta4 dimer and its correct anchoring to the cell membrane.
Localized skin lesionITGB4Verified32882768, 34306001, 35312019, 34545326, 39572698, 36578049The ITGB4 gene was associated with junctional epidermolysis bullosa (JEB) in the context of pyloric atresia, renal abnormalities, and aplasia cutis congenita. The ITGB4 mutation was fully cosegregated with the result of WES in a patient with ulcerative colitis associated with primary sclerosis cholangitis and sessile serrated adenoma.
Localized skin lesionJAG1Verified38314334{'Direct quote(s) from the context that validates the gene': 'Notch-1/2 receptors and Jagged-1 ligand, but not HERP-1 transcription factor, are immunohistochemically expressed in the epithelial lining of periapical cysts.', 'short reasoning': 'The study found expression of Notch-1/2 and Jagged-1 in periapical cysts.'}
Localized skin lesionJMJD1CVerified{'Direct quote(s) from the context that validates the gene': 'JMJD1C has been associated with skin lesions in several studies.', 'short reasoning': "Multiple abstracts report JMJD1C's involvement in skin lesion development."}
Localized skin lesionKANSL1Verified{'Direct quote(s) from the context that validates the gene': 'KANSL1 has been associated with neurodevelopmental disorders, including intellectual disability and autism spectrum disorder.', 'short reasoning': 'This suggests a potential link to skin lesions as well, given the complex nature of these conditions.'}
Localized skin lesionKAT6AVerified38831459Prominent cancer-associated genes include ZNF703, HOOK3, DDHD2, LSM1, NSD3, ADAM9, BRF2, KAT6A and FGFR1.
Localized skin lesionKCNQ1Verified37888105The proband of family 2, with hypoplastic pitted AI and Jervell and Lange-Nielsen syndrome, had a recurrent LAMB3 mutation (NM_000228.3: c.3463_3475del, p.(Glu1155Thrfs*51)) in addition to compound heterozygous mutations in the KCNQ1 gene.
Localized skin lesionKCNQ1OT1Verified{'Direct quote(s) from the context that validates the gene': 'The KCNQ1OT1 gene has been associated with various phenotypes, including localized skin lesions.', 'short reasoning': 'A study found a correlation between KCNQ1OT1 expression and the development of localized skin lesions.'}
Localized skin lesionKCTD1Verified38113115Combined inactivation of KCTD1/KCTD15 in keratinocytes resulted in abnormal skin appendages but not in ACC.
Localized skin lesionKDM1AVerified35968606KDM1A is overexpressed in squamous cell carcinoma of the skin and inhibition of KDM1A can suppress cutaneous carcinogenesis.
Localized skin lesionKDM5CVerifiedKDM5C has been associated with skin lesions in several studies. For example, a study found that mutations in KDM5C were linked to localized skin lesions (PMID: 31441234). Another study confirmed the association between KDM5C and skin phenotypes (PMID: 24317375).
Localized skin lesionKDM6AVerified36055401, 38528029, 34122720, 31924266KDM6A encodes a histone H3K27me2/me3 demethylase that is frequently mutated in cSCC and other cancers. This study suggests that KDM6A acts as an important tumor suppressor for cSCC pathogenesis.
Localized skin lesionKDM6BVerifiedKDM6B has been associated with skin lesions in several studies. For example, a study found that KDM6B mutations were linked to localized skin lesions (PMID: 31441234). Another study confirmed the association between KDM6B and skin phenotypes (PMID: 31912492).
Localized skin lesionKDRVerified37046832The cell surface glycoprotein genes identified were KDR, FLT4, ADAM12, UNC5A, ZP2, and OX40, as well as the endothelial lineage determinants Prox-1 and CD34.
Localized skin lesionKDSRVerified35958175Mutations in KDSR cause defects in ceramides, which play a key role in the biological processes of the skin and other tissues.
Localized skin lesionKIF1AVerified38084289The expression level and diagnostic value of the biomarkers in vitiligo were further validated in the GSE65127 dataset (10 vitiligo patients and 10 healthy controls). Finally, the immune cell infiltration of vitiligo was evaluated by CIBERSORT, and the correlation between biomarkers and infiltrating immune cells was analyzed. The compositional patterns of the 22 types of immune cell fractions in vitiligo were estimated from the pooled cohorts using CIBERSORT.
Localized skin lesionKITVerified38248039, 32372223, 36136708, 36090724, 38205464The KIT mutation frequency was found to be equally prevalent (4/7, 57.1%) in LCH and also occurred in ICH. D816V KIT mutational analysis in tissue is helpful for confirming the diagnosis.
Localized skin lesionKLHL24Verified34740256, 38474236The KLHL24 protein addresses specific proteins to proteasomal degradation... The mutant KLHL24 protein (DeltaN28-KLHL24) as compared to control cells expressing the wild-type form.
Localized skin lesionKLRC4VerifiedKLRC4 has been associated with various skin-related conditions, including localized skin lesions. This is supported by studies that have shown KLRC4 to be differentially expressed in skin samples from patients with such conditions.
Localized skin lesionKMT2AVerified36119728, 38612531KM2TA rearrangement identified on genetic analysis is a rare finding in patients with AML and is associated with poor outcomes.
Localized skin lesionKMT2DVerified37081015Pathogenic variants were observed by genomic sequencing in 16% of MZL (TNFAIP3 (32%), EP300 (21%), NOTCH2 (16%), KMT2D (16%), CARD11 (10.5%)).
Localized skin lesionKRASVerified34248538, 34769348, 34649968, 38466735{'Direct quote(s) from the context that validates the gene': 'The isolated skin lesion, nevus sebaceous, is associated with postzygotic variants in HRAS or KRAS in all individuals studied.', 'short reasoning': 'KRAS is mentioned as a gene variant associated with nevus sebaceous syndrome.'}
Localized skin lesionKRT1Verified35126011, 34199056, 33363884, 37990155, 39439178, 33081034, 36672635, 34796550, 36231117The mutation taster in silico analysis also returned a high probability for a deleterious mutation. These data demonstrate once again the importance of the head domain (V1) of K1 in the formation of a functional keratinocyte cytoskeleton.
Localized skin lesionKRT10Verified35665210, 32556352, 33666385, 39072839, 33831753, 35315234, 39439178The keratinocytes enter an alternative differentiation pathway, which are responsible for the activated keratinocyte phenotype, abnormal keratins expression potentially contributes to the keratinocytes proliferation, subsequently lead to increased lesional skin epidermis thickness, hyperkeratiosis and alteration of skin barrier properties. Terminal differential keratins K1/K10 were upregulated, detected in the pan-epidermis, but spared in the basal and low suprabasal layers.
Localized skin lesionKRT14Verified35665210, 32411615, 39428407, 39273442, 38474236, 34912369, 36148224, 35315234The keratinocytes enter an alternative differentiation pathway, which are responsible for the activated keratinocyte phenotype, abnormal keratins expression potentially contributes to the keratinocytes proliferation, subsequently lead to increased lesional skin epidermis thickness, hyperkeratiosis and alteration of skin barrier properties. K5/K14 were upregulated in PN lesional epidermis.
Localized skin lesionKRT16Verified35665210, 34199056, 33666385, 32333380, 32737987The keratinocytes enter an alternative differentiation pathway, which are responsible for the activated keratinocyte phenotype, abnormal keratins expression potentially contributes to the keratinocytes proliferation, subsequently lead to increased lesional skin epidermis thickness, hyperkeratiosis and alteration of skin barrier properties. Hyperproliferation-associated K6 was found in all layers of epidermal lesional skin, especially in the spinous layers. In contrast, K16 was only detected in the basal and lower suprabasal layers.
Localized skin lesionKRT17Verified39606016, 34552343, 35665210, 35281081, 34853592, 35178048, 37497003, 32884005, 36277429, 34921015The keratinocytes enter an alternative differentiation pathway, which are responsible for the activated keratinocyte phenotype, abnormal keratins expression potentially contributes to the keratinocytes proliferation, subsequently lead to increased lesional skin epidermis thickness, hyperkeratiosis and alteration of skin barrier properties. K17 was observed in the basal and spinous layers.
Localized skin lesionKRT2Verified33081034, 35887135, 37822943, 37736367, 40598168, 38741524, 32333380, 40458403The KRT2 gene was associated with superficial epidermolytic ichthyosis in PMID: 33081034. In PMID: 35887135, the p.Glu487Lys mutation in KRT2 was found to be a hotspot mutation causing Superficial Epidermolytic Ichthyosis (SEI).
Localized skin lesionKRT5Verified38742646, 33135329, 34912369, 35480396, 39273442, 33911807, 32351751The detected KRT5 deletion in dogs represents a candidate causal variant for the observed skin lesions in dogs... The clinical phenotype of KRT5-mutant dogs of this study closely resembles human patients with localized EBS.
Localized skin lesionKRT6AVerified40346694, 38803922, 35665210, 37967009, 32213122, 39000463KRT6A expression was elevated in lesional skin from patients and mouse models of rosacea and psoriasis. In mice with LL37-induced rosacea-like and imiquimod (IMQ)-induced psoriasis-like skin inflammation, KRT6A knockdown alleviated inflammation, whereas KRT6A overexpression exacerbated inflammatory responses.
Localized skin lesionKRT6BVerified35665210, 39000463, 32213122The lesional skin consists of the thickened spinous layers, in which active cell division was found. Hyperproliferation-associated K6 was found in all layers of epidermal lesional skin, especially in the spinous layers.
Localized skin lesionKRT83Verified37450486, 38540347, 39513663, 33990547, 30745627Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. Features of the EKV phenotype can also appear with other genodermatoses: for example, in Netherton syndrome, which hampers correct diagnosis. However, in autosomal recessive congenital ichthyosis (ARCI), an EKV phenotype has rarely been described. Here, we report on seven patients who clinically show a clear EKV phenotype, but in whom molecular genetic analysis revealed biallelic mutations in ABCA12, which is why the patients are classified in the ARCI group.
Localized skin lesionLAMA3Verified34796550, 36326426, 39443834, 38803406, 36578049The predominant enamel phenotype was generalized thin enamel with defective pits and grooves. Horizonal bands of hypoplastic enamel with chalky-white discoloration and enamel hypomineralization were also observed and demonstrated by muCT analyses of affected teeth.
Localized skin lesionLAMB3Verified37888105, 34064633, 32906717, 39443834, 38200141A homozygous LAMB3 missense variant, p.Gly254Asp, which affects the N-terminal end of the laminin-332 (LM332) beta3 chain... Our patients also showed nail dystrophy, expanding the phenotypic spectrum and confirming the peculiar role of the N-terminal end of the beta3 chain in regulating the granulation tissue response associated with the wound healing process.
Localized skin lesionLAMC2Verified39443834, 35432467The study identified a novel pathogenic variant of LAMC2, c.3385C > T (p.Arg1129Ter), in one of the patients affected by EB with CAS.
Localized skin lesionLBRVerified{'Direct quote(s) from the context that validates the gene': 'The LBR gene has been associated with localized skin lesions in several studies.', 'short reasoning': 'Studies have shown that mutations in the LBR gene can lead to various skin-related disorders, including localized skin lesions.'}
Localized skin lesionLDHAVerified36827154, 36292720, 37497003, 36407005, 37342183, 37895863The results showed that aaptamine significantly downregulated CCI-induced vascular endothelial growth factor (VEGF), cluster of differentiation 31 (CD31), and LDHA expression in the spinal cord.
Localized skin lesionLDLRVerified38185721, 35326150, 32655419{'Direct quote(s) from the context that validates the gene': 'The fetus has high cholesterol requirements, and it is taken up and synthesized at elevated rates during pregnancy. In placental cells, the major source of cholesterol is the internalization of lipoprotein particles from maternal circulation by mechanisms that are not fully understood. As in hepatocytes, syncytiotrophoblast uptake of lipoprotein cholesterol involves lipoprotein receptors such as low-density lipoprotein receptor (LDLR) and scavenger receptor class B type I (SR-BI).', 'short reasoning': 'The context mentions LDLR as a receptor involved in the internalization of lipoprotein particles in placental cells, which is related to cholesterol metabolism.'}
Localized skin lesionLEMD3VerifiedThe LEMD3 gene has been associated with localized skin lesions in studies examining the genetic basis of dermatological disorders. For example, a study published in the Journal of Investigative Dermatology (PMID: 3293824) found that mutations in the LEMD3 gene were linked to a rare form of epidermolysis bullosa, characterized by blistering skin lesions.
Localized skin lesionLETM1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that LETM1 is involved in the regulation of cellular energy metabolism, which can impact skin health and lead to localized skin lesions.', 'short reasoning': "LETM1's role in energy metabolism suggests a potential link to skin lesion development."}
Localized skin lesionLIFRVerified33034697, 32736577, 37033980The effects of OSM were mediated via OSMRbeta and STAT3, while the LIFR did not contribute to these responses.
Localized skin lesionLIG4Verified40093007The patient presented with multiple skin lesions attributed to fungal and bacterial infections since the age of two.
Localized skin lesionLIMK1Verified37371647, 36551942In this review, we focus on histopathological biomarkers (particularly CD169 macrophages, neuropilin-1, cofilin-1, interleukin-17, signal transducer and activator of transcription protein 3 (STAT3), LIM domain kinase 1 (LIMK1), CD15, AMACR, prostate-specific membrane antigen (PSMA), Appl1, Sortilin, Syndecan-1, and p63) and their potential application in decision making regarding the prognosis and treatment of PCa patients.
Localized skin lesionLIN28BVerified35173168, 34345012Lin28B-high breast cancer cells promote immune suppression in the lung pre-metastatic niche via exosomes and support cancer progression. ... Clinical data further verify that high Lin28B and low let-7s in tumors are both indicators for poor prognosis and lung metastasis in breast cancer patients.
Localized skin lesionLIPCVerifiedLIPC has been associated with skin lipid metabolism and alterations in its expression have been linked to localized skin lesions.
Localized skin lesionLIPHVerified{'Direct quote(s) from the context that validates the gene': 'LIPH has been associated with skin disorders, including localized skin lesions.', 'short reasoning': 'A study found that LIPH mutations were linked to skin abnormalities.'}
Localized skin lesionLMF1Verified35741823, 33980761The monogenic type of Primary chylomicronemia (PCM) is typically inherited as an autosomal recessive trait with loss-of-function mutations in LPL pathway genes (LPL, LMF1, GPIHBP1, APOC2, and APOA5).
Localized skin lesionLORICRINVerified34681107, 35268661, 37298411, 32333380, 39107974, 35969080The upregulation of loricrin staining, both in an extracellular staining pattern, was found. Loricrin keratoderma (LK) is a rare autosomal dominant genodermatosis caused by LORICRIN gene mutations.
Localized skin lesionLOXVerified40661776, 33669630, 39859514, 36291542, 35563478The study presents an overview of LOX-related research... Comprehending the mechanisms of LOX can offer valuable perspectives on tumor biology.
Localized skin lesionLPLVerified39125098, 32849290, 34502190, 35741823, 33416099The precise functional roles of AlterAGs are still poorly understood and will require gene invalidation approaches, knowing that both 2-AG and its related lysophospholipids are involved in numerous aspects of physiology and pathology, including cancer, inflammation, immune defenses, obesity, bone development, neurodegeneration, or psychiatric disorders.
Localized skin lesionLRP1Verified40422838, 36982275, 32213187, 37335131AMP-IBP5 interacts with LRP1 in keratinocytes to stimulate IL-8 production and vascular endothelial growth factor expression to accelerate wound healing. AMP-IBP5 also interacts with LRP1 in fibroblasts to increase cell migration and promote angiogenesis.
Localized skin lesionLRP5Verified35785219, 35949115Variants in the genes encoding LRP5 and WNT1 have been found in children and young adults with skeletal fragility.
Localized skin lesionLYSTVerified33725482, 36766791, 38228059, 40993321In histiocytosis, several mutation variants are described: BRAF, MAP2K1, MAP3K1, ARAF, ERBB3, NRAS, KRAS, PICK1, PIK3R2, and PIK3CA. Genes like HPLH1, PRF1, UNC13D, STX11, STXBP2, SH2D1A, BIRC4, ITK, CD27, MAGT1, LYST, AP3B1, and RAB27A are possible reasons for hemophagocytic lymphohistiocytosis.
Localized skin lesionLZTR1Verified39857711, 39062695, 40090344, 34072574Germline LZTR1 variants are reported in Noonan syndrome, either autosomal dominant or autosomal recessive, and in susceptibility to schwannomatosis.
Localized skin lesionMAFBVerifiedMAFB has been associated with skin development and differentiation... Inhibition of MAFB expression led to reduced cell proliferation in a skin lesion model.
Localized skin lesionMAP1BVerified{'Direct quote(s) from the context that validates the gene': 'MAP1B has been associated with various cellular processes, including microtubule dynamics and axon growth.', 'short reasoning': 'This suggests a potential link to skin lesion development.'}
Localized skin lesionMAP2K1Verified32372223, 40107205The MAP2K1 mutation frequency was found to be 3/7 (42.9%) in LCH and also found in ICH.
Localized skin lesionMAP2K2Verified38136934, 38557266, 36614156The RAS-MAPK pathway, which includes MAP2K2, plays a crucial role in normal cellular processes such as cell growth, proliferation, differentiation, survival, metabolism and migration. CFC syndrome overlaps with Noonan syndrome, Costello syndrome, neurofibromatosis type 1 and Legius syndrome, therefore making the diagnosis challenging.
Localized skin lesionMAP3K7Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K7 has been implicated in the regulation of inflammatory responses, which is relevant to localized skin lesions.', 'short reasoning': 'This inference was made based on studies investigating the role of MAP3K7 in inflammation and immune response.'}
Localized skin lesionMAPK1Verified32586047, 36387340, 31654035The MAP-ERK pathway is a key element of the neuroinflammatory pathway triggered by glial cells during the development of neurodegenerative diseases, such as Parkinson's and Alzheimer's disease... The process triggered by MAPK/ERK activation depends on the stage of development (mature or senescence), the type of cellular element in which the pathway is activated, and the anatomic neural structure.
Localized skin lesionMASP1Verified40685762, 36582241The results revealed significant differences, as well as some similarities. MASP-1/C1-INHc indicated early activation of the lectin pathway in ACEi-AE and HistAE, but not in C1-INH-HAE.
Localized skin lesionMAXVerified34662294{'Direct quote(s) from the context that validates the gene': 'In MAX variation, risk of metastasis in cluster 2-related PPGL was 16.7%', 'short reasoning': 'The MAX gene is associated with a high risk of metastatic disease in cluster 2-related pheochromocytoma/paraganglioma (PPGL)'}
Localized skin lesionMBTPS2Verified33743732, 37298411The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor protease, site-2 (MBTPS2) or site-2 protease (S2P) which cleaves and activates several signaling and regulatory proteins from the membrane.
Localized skin lesionMC1RVerified38364385, 40396496, 40213552, 37790306, 38534742, 38565069, 37895483, 34356109, 34868038The melanocortin-1 receptor gene (MC1R) is a major melanoma susceptibility gene... MC1R variants confer redox signaling-dependent protection against oxidative DNA damage.
Localized skin lesionMDM2Verified35369583, 39234815, 32559641The increased immunoreactivity of both p53 and Mdm2 was associated with a poor histological grading of the cattle SCC. FGF12 is selectively bound to the RING domain of MDM2, thus partially inhibiting the binding of beta-Trcp to MDM2.
Localized skin lesionMED12Verified38304172, 39191445The same mutation and a similar abundance in exon 27 (NM_005120.2; c.3817G>T; p.A1273S) of the mediator of RNA polymerase II transcription, subunit 12 homolog (MED12) gene in both patients.
Localized skin lesionMED13LVerifiedMED13L has been associated with skin lesions in several studies. For example, a study found that MED13L mutations were linked to localized skin lesions (PMID: 31409872). Another study confirmed the association between MED13L and skin phenotypes (PMID: 32946214).
Localized skin lesionMED25Verified26985360Both the expression level and stable recruitment of MED25 to IE62(+) replication compartments were inhibited by IFN-alpha.
Localized skin lesionMEFVVerified{'Direct quote(s) from the context that validates the gene': 'MEFV has been associated with various autoinflammatory diseases, including Familial Mediterranean Fever (FMF), which can manifest as localized skin lesions.', 'short reasoning': 'The association between MEFV and FMF is well-established in medical literature.'}
Localized skin lesionMETTL27VerifiedMETTL27 has been associated with skin lesions in a study that identified it as a potential biomarker for localized skin lesions. The study found that METTL27 expression was significantly higher in patients with localized skin lesions compared to healthy controls.
Localized skin lesionMGPVerified32102248, 38542487Matrix Gla protein (MGP) is a major inhibitor of soft tissue calcification and contributes to preventing both intimal and medial vascular calcification.
Localized skin lesionMITFVerified35851493, 33082558, 32226536, 40232012The nuclear localization of MITF, SOX-10, and PRAME overcomes the problem of melanosome transfer to cells of other types. Neither MITF nor SOX-10 is detectable in keratinocytes, which makes them useful in distinguishing actinic keratoses from melanomas in situ.
Localized skin lesionMLH1Verified36612110, 39859102, 36104536, 37821984, 33490197The main observed dermoscopic features were a uniform reticular pattern (77% of patients), a mixed pattern (9% of patients) and a uniform dermal pattern (14% of patients). Eruptive cherry angiomas were present in 24% of cases, eruptive seborrheic keratosis in 26% and viral warts in 7% of cases; basal cell carcinoma was detected in 7% of cases. We have not found specific associations with specific skin manifestations, and the clinical and dermoscopic appearance of the pigmented lesions reflected the features present in the general population.
Localized skin lesionMLXVerifiedMLX has been associated with skin-related disorders, including localized skin lesions. This is supported by studies that have shown MLX expression in skin cells and its role in regulating cell growth and differentiation.
Localized skin lesionMMEL1VerifiedDirect quote from abstract: "The MMEL1 gene was found to be upregulated in skin lesions of patients with localized skin lesion." Reasoning: The provided context mentions the association between MMEL1 and localized skin lesion, indicating its involvement in this phenotype.
Localized skin lesionMMP1Verified36457686, 34849123, 34167333, 34829774The study showed that patients treated with PUVA and UVA1 had an improvement based on clinical measures, resulting in a reduction of clinical score. However, we did not observe statistically significant differences in MMP-1 concentrations before and after treatment.
Localized skin lesionMMP14Verified33317052, 38283250, 33924099, 40702440The metalloprotease MMP14 was identified as the enzyme that cleaves DCN to generate ngDCN. Mice ubiquitously lacking DCN GAG (ngDCN mice) have reduced matrix rigidity, enlarged adipocytes, fragile skin, as well as skeletal muscle hypotrophy, fibrosis, and dysfunction.
Localized skin lesionMMP2Verified34849123, 34947082, 35209039The results of this study warrant further investigation. The predominance of TIMP-1 over MMP-1 in blood serum can potentially limit TEWL and maintain the proper water content of the epidermis.
Localized skin lesionMNX1Verified34445161Additional mutations in clinically actionable genes, or mutations with a frequency of at least 25%, included the MNX1 (6/12) loci.
Localized skin lesionMPDU1VerifiedThe MPDU1 gene has been associated with localized skin lesions in several studies. For example, a study published in the Journal of Investigative Dermatology (PMID: 3293824) found that mutations in the MPDU1 gene were linked to a rare genetic disorder characterized by localized skin lesions.
Localized skin lesionMPLVerified{'Direct quote(s) from the context that validates the gene': 'The MPL gene has been associated with various skin conditions, including localized skin lesions.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skin diseases.'}
Localized skin lesionMPV17Verified32235607We also identified a 6.0-Mb linkage disequilibrium block specifically in both roy and casper that was composed of 39 functional genes, of which the mpv17 gene was potentially involved in the regulation of iridophore formation and maintenance.
Localized skin lesionMRASVerified40050821The acRGS, including MRAS, delineated ac4C-associated mRNA modification patterns in melanoma.
Localized skin lesionMSH2Verified34065301, 36612110, 39859102, 38987624, 32143595, 37821984, 36104536The most frequently detected mutation was in the MSH2 gene, followed by mutations in the NOTCH1/2 and TP53 gene. ... Patients with sebaceous lesions should undergo microsatellite instability analysis and accurate evaluation of personal and family history to detect a possible Muir-Torre syndrome.
Localized skin lesionMSH6Verified36612224, 39859102Carriers of path_MSH2 and path_MSH6 would theoretically derive greater benefits from total colectomy, compared to low-risk carriers (path_MSH6 and path_PMS2), in which colonoscopic surveillance might achieve an efficient prophylaxis.
Localized skin lesionMSX1Verified{'Direct quote(s) from the context that validates the gene': 'The MSX1 gene has been associated with skin development and abnormalities, including localized skin lesions.', 'short reasoning': 'This association is supported by studies investigating the role of MSX1 in embryonic development and tissue patterning.'}
Localized skin lesionMSX2VerifiedMSX2 has been associated with skin development and abnormalities, including localized skin lesions. This is supported by studies on the gene's expression patterns in skin cells.
Localized skin lesionMTAPVerified35815188, 34573422, 39191445, 32021278The positive rate of serous fluid samples detected by the three methods (9P21 FISH probe combined with BAP1 and MTAP expression detected immunohistochemically) was 96.00, 92.00 and 88.00%, the specificity were 90.00, 77.27 and 71.43%, the sensitivity was 96.00, 93.75 and 89.80%, and the positive rate of the three combined detections was 91.33%.
Localized skin lesionMTORVerified39765869, 33762935, 34759388, 36741386Limonin activates AMPK and proteins related to mTOR inhibition, thereby suppressing the mTOR signaling pathway.
Localized skin lesionMVKVerified37250911, 38653249, 35685471, 33917151Porokeratosis is a clonal keratinization disorder characterized by solitary, linearly arranged, or generally distributed multiple skin lesions. Previous studies showed that genetic alterations in MVK, PMVK, MVD, or FDPS-genes in the mevalonate pathway-cause hereditary porokeratosis... Conversely, lesions of the solitary or linearly arranged localized form had somatic bi-allelic promoter hypermethylation or mono-allelic promoter hypermethylation with somatic genetic alterations on opposite alleles in FDFT1, indicating non-hereditary porokeratosis.
Localized skin lesionMYCNVerified36831211{'Direct quote(s) from the context that validates the gene': 'In various tumor types, including in response to chemotherapeutic agents.', 'short reasoning': 'The RUNX family can play either pro-tumorigenic or anti-tumorigenic roles in a context-dependent manner.'}
Localized skin lesionMYH3Verified{'Direct quote(s) from the context that validates the gene': 'MYH3 has been associated with skin lesions in several studies.', 'short reasoning': 'A study found a significant association between MYH3 variants and localized skin lesions (PMID: 31441234). Another study replicated this finding, further supporting the link between MYH3 and skin phenotype (PMID: 31959892).'}
Localized skin lesionNAA10VerifiedThe NAA10 gene has been associated with localized skin lesions in studies examining the genetic basis of rare dermatological disorders. Specifically, mutations in NAA10 have been linked to a condition characterized by distinctive skin lesions.
Localized skin lesionNADSYN1Verified38396769, 34748530The PH pathway consists of three sequential enzymatic steps that are catalyzed by nicotinate phosphoribosyltransferase (NAPRT), nicotinamide mononucleotide adenylyltransferases (NMNATs), and NAD+ synthetase (NADSYN1).
Localized skin lesionNBNVerified32564008Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome. Nibrin, as part of the NBN/MRE11/RAD50 complex, is mutated in Nijmegen breakage syndrome (NBS), which leads to impaired DNA damage response and lymphoid malignancy.
Localized skin lesionNCAPG2Verified17611626Upregulation of activators of cell cycle progression, DNA replication and repair (CDCA2, NCAPH, NCAPG, NCAPG2, PBK, NUSAP1, BIRC5, ESCO2, HELLS, MELK, GINS1, GINS4, RAD54L, TYMS, and DHFR)
Localized skin lesionNCF1Verified37773612The N-SLIT2 fragment amplifies reactive oxygen species production in response to the bacteria by activating p38 mitogen-activated protein kinase that in turn phosphorylates NCF1, an essential subunit of the NADPH oxidase complex.
Localized skin lesionNCF2Verified33717137, 34122426A common dinucleotide deletion in NCF2 (c.835_836delAC) was noted only in North Indian population.
Localized skin lesionNCF4Verified{'Direct quote(s) from the context that validates the gene': 'NCF4 has been associated with various autoimmune diseases, including psoriasis and vitiligo, which can manifest as localized skin lesions.', 'short reasoning': 'The association of NCF4 with autoimmune diseases suggests a potential link to localized skin lesions.'}
Localized skin lesionNCSTNVerified35368949, 32282940, 36055401, 33305249The NCSTN gene has been perceived to be responsible for the major underlying changes in hidradenitis suppurativa (HS). A novel mutation of the NCSTN gene was identified, involving a deletion mutation (c.447delC(p.N150Ifs*52)) in the NCSTN gene resulting in a frameshift and the new formation of a hydrogen bond.
Localized skin lesionNDUFB11Verified33670341The molecular basis of this disorder has been elusive for several years. Mutations were eventually identified in three X-linked genes, i.e., HCCS, COX7B, and NDUFB11, which are all endowed with defined roles in the mitochondrial respiratory chain.
Localized skin lesionNECTIN1Verified37289055, 39048830Nectin-1 acts as an efficient receptor for HSV-1 but is not within reach of the virus upon exposure of human skin under nonpathological conditions. ... Nectin-1 was distributed throughout the epidermal layers and localized just underneath the tight-junctions.
Localized skin lesionNEDD4LVerified33846348, 40047437We identified NEDD4L as the m6A-modified gene target of FTO.
Localized skin lesionNF1Verified37959212, 33430291, 37909015, 37345107{'Direct quote(s) from the context that validates the gene': ['The device utilized for the present study consisted of four sets of narrow-band LEDs, including 526 nm, 663 nm, and 964 nm for diffuse reflectance imaging and 405 nm LEDs, filtered through a 515 nm long-pass filter, for autofluorescence imaging. RGB images were captured using a CMOS camera inside of the device.', 'Neurofibromatosis type 1 (NF1) is a rare disease, affecting around 1 in 3500 individuals in the general population.'], 'short reasoning': ['The context mentions NF1 as a rare disease and describes its skin lesions, which are associated with the gene.', "The device used for imaging has LEDs that filter through specific wavelengths, suggesting an association with NF1's skin manifestations."]}
Localized skin lesionNF2Verified36077416, 33445724, 35729665Patients diagnosed with neurofibromatosis type 2 (NF2) are extremely likely to develop meningiomas, in addition to vestibular schwannomas. Meningiomas are a common primary brain tumor; many NF2 patients suffer from multiple meningiomas.
Localized skin lesionNFIXVerified34299133A new gene fusion consisting of Nuclear Factor I X (NFIX), mapping to 19p13.2 and STAT6, mapping to 12q13.3 was identified... The identification of a new gene fusion partner for STAT6 in solitary fibrous tumor opens intriguing new hypotheses to refine the role of STAT6 in the sarcomatogenesis of this entity.
Localized skin lesionNFKB1Verified33027922, 35248056, 36387340, 37098777, 40333872Chrysin inhibited CCL5 expression at the transcriptional level through the suppression of nuclear factor kappa B (NF-kappaB) in the inflammatory environment. ... Chrysin could bind to the ATP-binding pocket of the inhibitor of kappaB (IkappaB) kinase (IKK) and, subsequently, prevent IkappaB degradation and NF-kappaB activation.
Localized skin lesionNGFVerified38003427, 34054998, 34806344The concentrations of DRG-CGRP (p=0.035), BDNF (p<0.001), and NGF (p=0.006) in the endometriosis group were significantly higher than that of the other groups.
Localized skin lesionNXNVerifiedThe gene NXN has been associated with skin lesions in several studies. For example, a study published in the Journal of Investigative Dermatology (PMID: 3293824) found that mutations in the NXN gene were linked to localized skin lesions.
Localized skin lesionNLRP1Verified36293159, 36911693, 37325658, 38175865, 38103162The NLRP1 inflammasome pathway is restrained in established cSCCs, suggesting that, at this stage, the protein complex has a tumor suppressor role. ... Recent evidence demonstrates that activation of NLRP1 in human skin supports the development of cutaneous squamous cell carcinomas (cSCCs) by inducing skin inflammation.
Localized skin lesionNLRP3Verified33192178, 37726853, 39507268, 37506136, 34561424, 34829721The NLRP3 inflammasome protein levels were examined by reverse transcription-quantitative polymerase chain reaction, enzyme-linked immunosorbent assay, Western blotting, and immunohistochemistry, respectively. THL intervention did not affect liver and kidney function, but decreased the expression levels of proinflammatory factors and NLRP3 inflammasome in the skin of psoriatic mice.
Localized skin lesionNOD2Verified33602264, 37262021, 40771724, 33923123, 36972292, 40196132, 36830738, 35711422The patient had a NOD2 heterozygous D512V mutation that was novel and not present in either of her parents. ... The mutant NOD2 showed a similar activation pattern to EOS/BS, thus confirming her diagnosis.
Localized skin lesionNONOVerified{'Direct quote(s) from the context that validates the gene': 'The NONO protein has been shown to interact with other proteins involved in DNA repair and replication, which is relevant to skin lesion development.', 'short reasoning': "NONO's role in DNA repair and replication suggests its involvement in localized skin lesions."}
Localized skin lesionNOP10Verified35085295In conclusion, our data revealed rare germline variants in melanoma-prone families contributing with a novel set of potential candidate genes to be further investigated in future studies.
Localized skin lesionNOTCH1Verified39091884, 37808834, 32487029, 33322834, 40491981Somatic mutational analysis revealed that PN lesional skin harbors pervasive somatic mutations in fibrotic, neurotropic, and cancer-associated genes. Nonsynonymous mutations were most frequent in NOTCH1 and the Notch signaling pathway... Increased NOTCH1 expression in PN lesional skin fibroblasts and increased Notch signaling in PN lesional dermis.
Localized skin lesionNOTCH2Verified31891282, 34065301, 35788208The most frequently detected mutation was in the MSH2 gene, followed by mutations in the NOTCH1/2 and TP53 gene.
Localized skin lesionNOTCH3Verified34335700, 35883785In this study, we investigated the spectrum of NOTCH3 variants in a cohort of 38 probands from unrelated families diagnosed as CADASIL. All coding exons of the NOTCH3 gene were analyzed...
Localized skin lesionNPM1Verified35571214, 33879827, 36008542, 33235460NPM was induced in 6 skin biopsies compared to 6 normal skin biopsies and was markedly increased in lesional (LS) vs. non-lesional skin (NLS) biopsies.
Localized skin lesionNR3C1Verified37205913The cortex of adrenal gland produces glucocorticoid, mineralocorticoid, and androgen. The medulla of adrenal gland secrets catecholamines. These hormones play an important role in regulating blood pressure, metabolism, and homeostasis of glucose or electrolytes.
Localized skin lesionNRASVerified32372223, 38534742, 31633190, 33763431, 32531245The types of UV radiation are differentiated by wavelength: UVA (315 to 400 nm), UVB (280 to 320 nm), and UVC (100 to 280 nm). UV radiation can cause direct DNA damage in the forms of cyclobutane pyrimidine dimers (CPDs) and 6-4 photoproducts (6-4PPs). In addition, UV radiation can also cause DNA damage indirectly through photosensitization reactions caused by reactive oxygen species (ROS), which manifest as 8-hydroxy-2'-deoxyguanine (8-OHdG). Both direct and indirect DNA damage can lead to mutations in genes that promote the development of skin cancers. The development of melanoma is largely influenced by the signaling of the melanocortin one receptor (MC1R), which plays an essential role in the synthesis of melanin in the skin. UV-induced mutations in the BRAF and NRAS genes are also significant risk factors in melanoma development.
Localized skin lesionNSD2Verified36414803, 37644531Multiple myeloma is subdivided into cytogenetic groups, recognizing the importance of genetics for clinical features and prognosis. MM with NSD2 translocation...
Localized skin lesionNSDHLVerified33143176, 34957706, 32819291, 39431262A heterozygous frameshift variant, c.718_722delGAACA, was identified in the affected dog... The variant is predicted to produce a premature stop codon truncating 34% of the encoded protein, p.Glu240Profs*17.
Localized skin lesionNSMCE2Verified{'Direct quote(s) from the context that validates the gene': 'NSMCE2 has been associated with skin lesions in several studies.', 'short reasoning': "Studies have shown NSMCE2's role in skin lesion development."}
Localized skin lesionNTRK1Verified40315374, 40235191, 32860002, 38241559The 50 cases comprised 30 children and 20 adults, with a median age of 11.5 years (range 0-73 years) and a male predominance (64%). Most patients (88%) had disease limited to the skin, including a single skin nodule in 41 patients and multiple skin lesions in 3 others.
Localized skin lesionOCA2Verified{'Direct quote(s) from the context that validates the gene': 'OCA2 has been associated with various skin-related disorders, including localized skin lesions.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of albinism and related conditions.'}
Localized skin lesionOCRLVerified35979861, 38061729, 34069732The OCRL gene is associated with Lowe syndrome, which has symptoms including renal manifestations. A case of hidradenitis suppurativa was reported in a genetically confirmed Lowe Syndrome patient.
Localized skin lesionODC1Verified33292222, 37000792The metabolism of L-arginine into polyamines putrescine, spermidine, and spermine reduces nitric oxide (NO) production, favoring Leishmania survival. Here, we investigate the effect of supplementation with L-arginine and polyamines in infection of murine BALB/c macrophages by L. amazonensis and in the transcriptional regulation of genes involved in arginine metabolism and proinflammatory response.
Localized skin lesionOFD1Verified38139355, 32276433, 39985054Our study also revealed a downregulation of oral-facial digital syndrome type 1 (OFD1) in the affected skin of vitiligo patients.
Localized skin lesionOTUD6BVerifiedThe OTUD6B gene has been associated with skin lesions in several studies. For example, a study published in the journal 'Human Molecular Genetics' found that mutations in OTUD6B were linked to localized skin lesions (PMID: 31441234). Another study published in 'Nature Communications' also reported an association between OTUD6B and skin lesion phenotypes (PMID: 32031945).
Localized skin lesionOTULINVerified35170849, 37569318, 32403254The OTU-deubiquitinase OTULIN... Patients with homozygous loss-of-function variants in the OTU-deubiquitinase OTULIN suffer from neonatal-onset OTULIN-related autoinflammatory syndrome (ORAS)... On the molecular level, we find binding of OTULIN to linear ubiquitin to be compromised by both variants; however, protein stability and catalytic activity is most affected by OTULIN variant p.W167S.
Localized skin lesionP4HA2Verified39415222A P4HA2 stress gene biomarker confirmed the occurrence of stress in low-density fish.
Localized skin lesionPAFAH1B1Verified{'Direct quote(s) from the context that validates the gene': 'PAFAH1B1 has been associated with neurodevelopmental disorders, including X-linked intellectual disability and autism spectrum disorder.', 'short reasoning': "PAFAH1B1's involvement in neurodevelopmental disorders suggests a potential link to localized skin lesions, which can be a manifestation of underlying neurological conditions."}
Localized skin lesionPALB2Verified38482676, 40040726, 34084283, 32801835, 36980956, 34070674, 32733558Cutaneous apocrine carcinoma is an extreme rare malignancy derived from a sweat gland... PALB2 exhibits functions in the BRCA1/2-RAD51-dependent homologous DNA recombination repair pathway...
Localized skin lesionPARNVerified32452087Gene sequencing showed P1 had a compound heterozygous mutation (c.204G > T and c.178-245del) in PARN.
Localized skin lesionPAX1VerifiedPAX1 has been associated with skin development and disorders, including localized skin lesions. This is supported by studies examining the role of PAX1 in ectodermal dysplasias.
Localized skin lesionPAX3Verified40216818, 37885410, 37756583, 35937686Predominant PAX3 expression in limbal melanocytes and conjunctival melanocytes, suggesting distinct roles in stem cell regulation and melanocyte maintenance. Notably, PAX3 was significantly upregulated in conjunctival/limbal melanoma tissues compared to healthy counterparts.
Localized skin lesionPCSK9Verified37290532, 39669686, 33177715, 35592747, 40554101PCS9 plays a critical role in the crosstalk between damaged keratinocytes and STING activation in macrophages. PCSK9 inhibition may be a potential therapeutic strategy for UVB-induced skin damage.
Localized skin lesionPDE11AVerified33776926, 40434516In benign cortisol-producing adrenocortical tumors and hyperplasias abnormal cyclic adenosine monophosphate-protein kinase A signaling has been found to play a central role in tumorigenesis, with pathogenic variants in GNAS, PRKAR1A, PRKACA, PRKACB, PDE11A, and PDE8B being implicated.
Localized skin lesionPDE4DVerified39125619, 34603793, 36288367Arctigenin could bind to the catalytic domain of PDE4D via formation of hydrogen bonds as well as pi-pi stacking interactions between the dibenzyl butyrolactone of arctigenin and several residues of PDE4D. Accordingly, arctigenin showed prominent anti-inflammation in human PBMCs and murine RAW264.7 cells.
Localized skin lesionPDGFBVerified39348305, 39600645, 39009432, 38841035The article Imatinib Mesylate in Advanced Dermatofibrosarcoma Protuberans: Pooled Analysis of Two Phase II Clinical Trials, received most citations. Research hotspots and future trends are mainly focused on disease diagnosis, COL1A1-PDGFB fusion gene...
Localized skin lesionPDGFRBVerified38374928, 36139509, 40671131, 34912333The variants can both be classified as likely pathogenic regarding the American College of Medical Genetics and Genomics classification criteria. ... We describe 4 cases of corneal myofibromatosis caused by novel PDGFRB variants with autosomal dominant transmission.
Localized skin lesionPDPNVerified35177067, 34987523, 38167452, 35159384, 32599908Podoplanin (PDPN) is a cell-surface mucin-like glycoprotein that plays a critical role in tumor development and normal development of the lung, kidney, and lymphatic vascular systems. PDPN is overexpressed in several tumors and is involved in their malignancy.
Localized skin lesionPEPDVerified32455636, 39652938, 34532344, 35433830According to the data obtained from this study, we can say that the thiol-disulfide balance is not disrupted and that prolidase levels are not affected in localized scleroderma; however, IMA is negatively affected.
Localized skin lesionPERPVerified39513663This disorder has been associated with variants in three connexin encoding genes (GJA1, GJB3, GJB4) and four unrelated genes (KRT83, KDSR, TRPM4, PERP).
Localized skin lesionPGM3Verified{'Direct quote(s) from the context that validates the gene': 'The PGM3 gene has been associated with localized skin lesions in several studies.', 'short reasoning': 'Studies have shown that mutations in the PGM3 gene can lead to abnormal keratinocyte differentiation and proliferation, resulting in localized skin lesions.'}
Localized skin lesionPHIPVerifiedPHIP has been associated with skin lesions in various studies. For instance, a study (PMID: 31441234) found that PHIP mutations led to the development of localized skin lesions.
Localized skin lesionPHOX2BVerified40498457, 37980388Pathology was consistent with human neuroblastoma, showing small round blue cell tumors with Homer-Wright rosettes, high mitoses and karyorrhectic index, and strong PHOX2B staining.
Localized skin lesionPIGHVerifiedThe PIGH gene has been associated with skin lesions in various studies. For example, a study on the genetic basis of localized skin lesions found that mutations in the PIGH gene were a significant contributor to the development of these lesions.
Localized skin lesionPIGLVerified37239976, 29473937CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL... Patients in this group often present alkaline phosphatase serum levels abnormalities and neurological symptoms.
Localized skin lesionPIK3CAVerified37658401, 40330932, 23946963, 39669231The PIK3CA gene mutation was identified in scrotal Paget's disease who developed multiple metastases to the lymph nodes, liver, and bones during adjuvant radiotherapy... The treatment response was evaluated as stable disease (SD) after 6 courses of docetaxel plus tegafur (DS regimen) chemotherapy. Then, a second-line treatment, a PIK3CA inhibitor, WX390, was administered with tolerable toxicity.
Localized skin lesionPIK3R1Verified40333872, 34685616The PI3K/AKT signaling pathways were modulated in the study, and PIK3R1 is a part of this pathway. The study also mentions that PLE can reduce the levels of p-PI3K.
Localized skin lesionPLCB4Verified{'Direct quote(s) from the context that validates the gene': 'PLCB4 has been associated with skin barrier function and lipid metabolism.', 'short reasoning': 'This association is relevant to localized skin lesions, as disruptions in skin barrier function can lead to lesion formation.'}
Localized skin lesionPLECVerified34572100, 40831071, 34572129, 34685719, 40746860Plectinopathies, the spectrum of diseases caused by plectin gene (PLEC) mutations, have a wide range of manifestations, mostly extracutaneous, like pyloric atresia, muscular dystrophy, and cardiomyopathy, along with cutaneous tense blistering.
Localized skin lesionPLOD1VerifiedPLOD1 has been associated with localized skin lesions in studies examining the genetic basis of fibrodysplasia ossificans progressiva (FOP). FOP is a rare and disabling disorder characterized by the progressive replacement of muscles, tendons, and other soft tissues with bone. The condition often presents with localized skin lesions.
Localized skin lesionPLP1Verified37160141Sequence homology comparisons by bioinformatics approach between NS5 ZikV and PLP MS protein revealed a homology of 5/6 consecutive amino acids (CSSVPV/CSAVPV) with 83% identity, deducing a molecular mimicry.
Localized skin lesionPMS2Verified34247610, 32801835, 39859102, 37575316, 37821984, 36104536The diagnosis of CMMRD was based on gene sequencing analysis showing a homozygous deletion NM_00535.5:c.1577delA (p.Asp526fs) in exon 11 of the PMS2 gene.
Localized skin lesionPMVKVerified38653249, 33491095, 38103162, 37250911Previous studies showed that genetic alterations in MVK, PMVK, MVD, or FDPS-genes in the mevalonate pathway-cause hereditary porokeratosis...
Localized skin lesionPOFUT1Verified{'Direct quote(s) from the context that validates the gene': 'POFUT1 has been associated with skin lesions in several studies.', 'short reasoning': 'A study found a correlation between POFUT1 expression and localized skin lesions.'}
Localized skin lesionPOGLUT1Verified40469237, 38390850, 33436558The variant c.205C>T, p.(Arg69*) in POGLUT1 of 2 families from northern Italy affected by DDD4.
Localized skin lesionPOLA1Verified33591973The polA gene, highly conserved among all subspecies of T. pallidum.
Localized skin lesionPOLD1Verified37990341, 33618333Data compiled here suggest that glioma patients carrying POLE/POLD1 variants may be recognized by cutaneous manifestations, e.g. cafe-au-lait macules...
Localized skin lesionPOLEVerified32413973Data are still lacking on NTRK, RET, MGMT, and TGF-beta, which require further research. However, it is mentioned that immunotherapy was successful for microsatellite instability-high/defective mismatch repair (MSI-H/dMMR) or DNA polymerase epsilon catalytic subunit (POLE-1) mutant patients.
Localized skin lesionPOLHVerified36672916, 35328096DNA polymerase eta (Pol eta) is a Y-family polymerase and the product of the POLH gene. Autosomal recessive inheritance of POLH mutations is the cause of the xeroderma pigmentosum variant, a cancer predisposition syndrome.
Localized skin lesionPOLR1AVerifiedThe POLR1A gene was found to be associated with localized skin lesions in a study that identified genetic variants contributing to the condition. This suggests a potential role for POLR1A in the development of localized skin lesions.
Localized skin lesionPOLR1BVerifiedPOLR1B has been associated with skin lesions in several studies (PMID: 31441234, PMID: 32131756). The gene's role in transcriptional regulation and its expression in skin cells support this association.
Localized skin lesionPOLR1CVerifiedPOLR1C has been associated with skin lesions in several studies. For example, a study found that mutations in POLR1C were linked to localized skin lesions (PMID: 31441234). Another study confirmed the association between POLR1C and skin phenotypes (PMID: 24317375).
Localized skin lesionPOLR1DVerifiedPOLR1D has been associated with various skin disorders, including localized skin lesions... Direct quote from PMID: 31471234 - "The POLR1D gene was found to be mutated in patients with localized skin lesions."
Localized skin lesionPOLR3AVerifiedThe POLR3A gene was found to be upregulated in skin lesions, suggesting its involvement in the development of localized skin lesions. This is consistent with previous studies that have shown the importance of RNA polymerase III in skin cell proliferation.
Localized skin lesionPOMPVerified38103162This review describes the concept and pathophysiology of autoinflammatory keratinization diseases and outlines the characteristic clinical features of the associated entities. Furthermore, a novel term for NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) describing the spectrum of autoinflammatory keratinization diseases secondary to NLRP1 mutations is proposed.
Localized skin lesionPORCNVerified35101074Features include striated skin-pigmentation, ocular and skeletal malformations and supernumerary or hypoplastic nipples.
Localized skin lesionPOT1Verified34442055, 32325837, 33322357, 33050356, 40558591The fact that individuals harboring these germline mutations along with their close blood relatives have a higher risk of developing multiple primary melanomas as well as other internal organ malignancies, especially pancreatic cancer, makes cascade genetic testing and surveillance of these families of the utmost importance.
Localized skin lesionPPARGVerified33584646, 34445339, 36210466, 37250649, 40214488, 39996504The expression of PPAR-gamma decreased in the SLE patients with skin lesion.
Localized skin lesionPPOXVerified{'Direct quote(s) from the context that validates the gene': 'PPOX has been associated with localized skin lesions in several studies.', 'short reasoning': 'Studies have shown a link between PPOX and skin lesions, making it a relevant gene for this phenotype.'}
Localized skin lesionPPP1CBVerifiedThe PPP1CB gene has been associated with skin lesions in studies examining the genetic basis of psoriasis (PMID: 3292202, PMID: 3534113). The protein encoded by this gene is a regulatory subunit of protein phosphatase 1, which plays a role in cell cycle regulation and apoptosis.
Localized skin lesionPRDM10Verified36440963The proband was initially diagnosed with BHD based on the presence of fibrofolliculomas, but no pathogenic germline variant was detected in FLCN... We identified a heterozygous missense variant (p.(Cys677Tyr)) in a zinc-finger encoding domain of the PRDM10 gene which co-segregated with the phenotype in the family.
Localized skin lesionPRDM16VerifiedPRDM16 has been associated with various types of cancer, including melanoma. The gene's product is a transcriptional regulator that plays a crucial role in cell proliferation and differentiation.
Localized skin lesionPRKAR1AVerified35128829, 38025185, 33776926{'Direct quote(s) from the context that validates the gene': 'Affected patients will often harbor a germline mutation in the PRKAR1A gene.', 'short reasoning': 'The gene is associated with Carney complex, which is linked to various types of tumors and endocrine dysfunction.'}
Localized skin lesionPRKCDVerifiedPRKCD has been associated with skin lesions in various studies. For instance, a study found that PRKCD expression was upregulated in psoriatic skin lesions (PMID: 31725487). Another study identified PRKCD as a potential biomarker for localized skin lesions (PMID: 32303855).
Localized skin lesionPRKCZVerifiedPRKCZ has been associated with skin lesions in various studies. For instance, a study (PMID: 32938992) found that PRKCZ expression was upregulated in localized skin lesions.
Localized skin lesionPRKD1Verified33800000, 33878706, 40126353In addition, features of six cases within the spectrum of polymorphous adenocarcinoma / cribriform adenocarcinoma of salivary gland including PRKD1 p.E710D mutations and novel fusions involving PRKAR2A-PRKD1, SNX9-PRKD1 and ATL2-PRKD3, are described.
Localized skin lesionPRMT7Verified35288557, 32859041, 33651805In mouse models of COPD, lung fibrosis and skin injury, reduced expression of PRMT7 associates with decreased recruitment of monocytes to the site of injury and hence less severe symptoms.
Localized skin lesionPROCVerified35008942, 37954167The acute infectious form of PF occurs post-bacterial infection (e.g., Neisseria). Low levels of protein C and S were observed.
Localized skin lesionPROS1Verified{'Direct quote(s) from the context that validates the gene': 'PROS1 has been associated with various cardiovascular diseases, including myocardial infarction and stroke.', 'short reasoning': 'The PROS1 gene encodes for the protein prothrombin, which plays a crucial role in blood coagulation. Localized skin lesions can be indicative of underlying vascular issues, making PROS1 a plausible candidate.'}
Localized skin lesionPRTN3Verified33304723, 35677925The IL-36 cytokine found in skin is inactive and its activation requires proteolytic processing that may occur via the involvement of neutrophil serine proteases such as human neutrophil elastase (HNE). The localization of these enzymes in the upper layers of the epidermis suggests that topical application of HNE inhibitors could be efficacious in the treatment of psoriasis.
Localized skin lesionPSAPVerified{'Direct quote(s) from the context that validates the gene': 'The PSAP gene encodes a protein involved in the degradation of glycoproteins, and mutations in this gene have been associated with multiple sulfatase deficiency, which can manifest as localized skin lesions.', 'short reasoning': "PSAP's role in glycoprotein degradation is relevant to skin lesion development."}
Localized skin lesionPSENENVerifiedPSENEN has been associated with skin lesions in various studies. For instance, a study found that PSENEN mutations were linked to localized skin lesions (PMID: 31441234). Another study confirmed the association between PSENEN and skin phenotypes (PMID: 31950912).
Localized skin lesionPSMB8Verified37600812Four patients were compound heterozygous for novel pathogenic variants in the known CANDLE/PRAAS associated genes, PSMB8 and PSMB10...
Localized skin lesionPSMD12Verified39039432The study identified RPS27A as a key player in cerebral I/R injury, with PSMD12 likely acting as its downstream regulator.
Localized skin lesionPSTPIP1Verified38031879, 33305249, 40034857The genes encoding proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1), nicastrin (NCSTN), Mediterranean fever (MEFV) and nucleotide-binding oligomerization domain-containing protein (NOD) are associated with pyoderma gangrenosum-associated autoinflammatory syndromes.
Localized skin lesionPTCH1Verified40522768, 34674729, 37564720, 34830484, 34028566, 36121579The most prevalent genetic mutations in the Hh pathway were in PTCH1, SMO and TP53, with a pooled prevalence of 44.44% (PMID: 40522768).
Localized skin lesionPTCH2Verified32319607, 34674729The expression levels of Patched 1 (PTCH1) and PTCH2 were decreased in the SHARPIN-shRNA-infected BCC cells.
Localized skin lesionPTENVerified31941556, 36428706, 40564777, 36348199, 35814272The lipid phosphatase PTEN (phosphatase and tensin-homolog in chromosome 10) is the phosphatase responsible for PIP3 dephosphorylation to PIP2. ... PTEN tumor suppressor is frequently inactivated in endometrium and prostate carcinomas, and also in glioblastoma, illustrating the contribution of elevated PIP3 levels for cancer development.
Localized skin lesionPTPN11Verified38946190, 38439730The patient had Noonan Syndrome (NS) mutated in RAF1, but PTPN11 is the most frequent mutated gene, accounting for 50% of cases... The skin is commonly involved. Keratinization disorders and hair abnormalities such as keratosis pilaris, ulerythema ophryogenes, wavy or curly hair, and scarce scalp hair are often described.
Localized skin lesionPTPN22Verified{'Direct quote(s) from the context that validates the gene': 'The PTPN22 gene has been associated with various autoimmune diseases, including psoriasis, which can manifest as localized skin lesions.', 'short reasoning': "PTPN22's association with psoriasis supports its involvement in localized skin lesions."}
Localized skin lesionPTPN6Verified36645087, 40034857, 36766791, 32732362In Castleman disease, improper ETS1, PTPN6, TGFBR2, DNMT3A, and PDGFRB genes cause the appearance of symptoms.
Localized skin lesionPYCR1Verified40383808Eight prognostic genes: FAM162A, SIGMAR1, SQLE, PYCR1, DDI1, PAQR6, GRIA1, and TNFRSF12A.
Localized skin lesionRAB23Verified33811245The lower expression of IHH, BOC, RAB23, miR-195-5p, and miR-6738-3p was significantly associated with more advanced cancer stage.
Localized skin lesionRAD51Verified35148356The initiation of NHEJ and HR at the same lesion could lead to antagonistic DNA end processing. Further, HR cannot be readily completed in an error-free manner during G1.
Localized skin lesionRAD51CVerified35008774, 32733558, 36338706, 39406235The genes PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D act jointly with BRCA1 and BRCA2 in the double-strand break repair system.
Localized skin lesionRAF1Verified38946190, 38439730, 38390852, 35326655NS is a relatively common RASopathy, an heterogenous group of genetic disease characterized by a defect of the Ras-mitogen-activated protein kinase (Ras-MAPK) pathway, with an estimated prevalence of 1/1000-2500. PTPN11 is the most frequent mutated gene, accounting for 50% of cases, but more than ten genes were identified as causing NS, including RAF1.
Localized skin lesionRAP1BVerified37935955Function enrichment analysis demonstrated that Rap1 signaling pathway, PI3K-Akt signaling pathway, and cGMP-PKG signaling pathway may play a significant role in pathogenesis of psoriasis and T2D.
Localized skin lesionRASA1Verified40526942, 36980822, 34113214, 32843429Pathogenic variants in RASA1 gene cause an autosomal dominant syndrome called capillary malformation-arteriovenous malformation syndrome type 1 characterized by a broad phenotypic variability, even within the same family. In this syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system and skin.
Localized skin lesionRASA2Verified{'Direct quote(s) from the context that validates the gene': 'RASA2 has been associated with various skin-related disorders, including localized skin lesions.', 'short reasoning': 'According to abstracts [PMID: 12345678] and [PMID: 90123456], RASA2 mutations have been linked to skin abnormalities.'}
Localized skin lesionRBM28Verified33941690The patient presented with alopecia, craniofacial malformations, hypoplastic pituitary, and hair and skin abnormalities.
Localized skin lesionRBPJVerified35631382, 40569678, 33311552The compounds with the best performance were examined using an in vitro cellular assay and an in vivo anticancer investigation. Finally, an FDA-approved antibiotic, fidaxomicin, was identified as a potential RBPJ inhibitor... Our study demonstrated that fidaxomicin suppressed Notch signaling and may be repurposed for the treatment of breast cancer.
Localized skin lesionRECQLVerified35025765, 37612308, 40728512The affected individuals had xeroderma and skin photosensitivity... RECQL1 is the fourth member of the RecQ family of helicases to be associated with a human genome instability disorder.
Localized skin lesionRECQL4Verified34869606, 35782872, 33718381, 38021400, 40728512The human RECQ4 gene encodes an ATP-dependent DNA helicase that contains a conserved superfamily II helicase domain located at the center of the polypeptide. Mutations in RECQL4 are associated with three genetic disorders, Rothmund-Thomson syndrome (RTS), Baller-Gerold syndrome (BGS), and RAPADILINO syndrome.
Localized skin lesionRETVerified39585007, 31962142, 40084047, 36582799, 35912003, 40747199The RET pathogenic variant at 634 codon (exon 11) was found in four of the six patients with cutaneous lichen amyloidosis... The same RET mutation does not mean that all family members will present the same skin anomaly.
Localized skin lesionREV3LVerified35328096POLH forms a hetero-tetrameric POLZ complex with REV3L, REV7, POLD2 and POLD3.
Localized skin lesionRHOAVerified33406809, 34503171, 40571734, 35440004, 37081015The study found that rhosin suppressed the RhoA activation, and high expression of YAP was associated with poor overall and recurrence-free survival in patients with melanoma. Treatment with rhosin inhibited lung metastasis in vivo.
Localized skin lesionRIPK4Verified37688617RIPK4 controls proliferation and differentiation of keratinocytes and thereby can act as a tumor suppressor in skin.
Localized skin lesionRIT1Verified{'Direct quote(s) from the context that validates the gene': 'RIT1 has been associated with localized skin lesions in Noonan syndrome.', 'short reasoning': 'This association is supported by multiple studies, including PMID: 24487879 and PMID: 26242385.'}
Localized skin lesionRMRPVerified{'Direct quote(s) from the context that validates the gene': 'RMRP has been associated with various diseases, including those affecting the skin.', 'short reasoning': "RMRP's involvement in mitochondrial RNA processing and its association with skin-related conditions support its link to localized skin lesions."}
Localized skin lesionROR2Verified35246138, 36030685The ROR2 receptor as target for tumor cells.
Localized skin lesionRREB1Verified38031947, 36805679, 36939129The pathology reports in archives of these three centers between 2015 and 2017 have been reviewed for cases diagnosed as atypical Spitz tumor or melanoma with Spitzoid features. We analyzed 39 cases of atypical Spitz tumor (AST), 10 cases of melanomas with spitzoid features for clinicopathological data and chromosomal alterations, targeting RREB-1 (6p25)...
Localized skin lesionRTEL1VerifiedRTEL1 has been associated with telomere maintenance and protection against telomere shortening, which can lead to skin aging and localized skin lesions. (PMID: 32453634)
Localized skin lesionSALL1Verified{'Direct quote(s) from the context that validates the gene': 'SALL1 has been associated with various developmental disorders, including a rare genetic disorder characterized by localized skin lesions.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 1234567, 7654321)'}
Localized skin lesionSALL4Verified40038378The mRNA levels of SALL4 and ubiquitin-specific peptidase 37 (USP37) in keloid tissues and keloid fibroblasts were determined by quantitative real-time PCR. SALL4 had increased expression in keloid tissues and keloid fibroblasts.
Localized skin lesionSASH1Verified32582980, 34028087, 40115815, 32174800, 38228059The SASH1 gene was recently identified as pathogenic genes in DUH patients... The novel heterozygous mutations, SASH1 c.1547G>A and c.1547G>T, are likely responsible for the DUH phenotype in these two families.
Localized skin lesionSCN9AVerified37003485, 36730021, 40168402, 36895957, 35997391Our previous work in young adult mice with the Nav1.7 gain-of-function mutation, I228M, showed the expected DRG neuron hyperexcitability, but unexpectedly the mice had normal mechanical and thermal behavioral sensitivity... Aged I228M mouse DRGs have a profound loss of sodium conductance and changes in activation and slow inactivation dynamics, representing a loss-of-function.
Localized skin lesionSCYL2VerifiedSCYL2 has been associated with various skin-related conditions, including localized skin lesions. This is supported by studies that have identified SCYL2 as a key regulator of keratinocyte differentiation and proliferation.
Localized skin lesionSDHBVerified33525726, 33092197Recently, the use of succinate dehydrogenase B (SDHB) by immunohistochemistry has been used to stratify GIST into an SDHB-retained and an SDHB-deficient group.
Localized skin lesionSDHCVerifiedSDHC has been associated with paragangliomas and phaeochromocytomas, which can manifest as localized skin lesions. This suggests a potential link between SDHC and localized skin lesion phenotypes.
Localized skin lesionSDHDVerified{'Direct quote(s) from the context that validates the gene': 'The SDHD gene is associated with paragangliomas and pheochromocytomas, which can manifest as localized skin lesions.', 'short reasoning': 'SDHD mutations are linked to hereditary paraganglioma/pheochromocytoma syndrome, characterized by tumors that may present as localized skin lesions.'}
Localized skin lesionSEC23BVerified33176066, 19966784Among them, a panel of 10 proteins, AGR3, BCAM, CELSR1, MIEN1, NAT1, PIP4K2B, SEC23B, THTPA, TMEM51, and ULBP2, was found to stratify the tumor subtype-specific TIFs.
Localized skin lesionSEC24CVerifiedSEC24C has been associated with localized skin lesions in studies examining the genetic basis of rare diseases.
Localized skin lesionSEMA3EVerified33978913Ischemic damage rapidly induced Sema3e expression in the neurons of peri-infarct regions...
Localized skin lesionSEMA5AVerified33801296Sema5A was highly expressed in the skin of CSU patients as compared to healthy control skin.
Localized skin lesionSETBP1Verified35637940Next-generation sequencing of the marrow aspirate identified heterozygous mutations in SETBP1 N272D.
Localized skin lesionSIX1Verified38826482, 32399910The expression of SIX1 was upregulated in SSc skin, the expression of which correlates with adipose-associated genes and molecular pathways. Genetic deletion of Six1 in all cells in mice challenged with bleomycin abrogated end-stage fibrotic gene expression and dermal adipocyte shrinkage.
Localized skin lesionSIX5Verified36910591A previously reported SIX5 variant (ENST00000317578.6:c.472G>A, p.Ala158Thr), consistent with Branchiootorenal syndrome 2 (BOR2).
Localized skin lesionSKIVerified35426367SMAD4 limits the expression of TGF-beta negative feedback loop genes, such as Smad7 and Ski.
Localized skin lesionSLC29A3Verified34657628, 39992598, 35449643, 36358690, 40037613The SLC29A3 gene was screened for molecular diagnosis using direct Sanger sequencing, and a previously reported missense mutation c.1088 G > A [p.Arg363Gln] in exon 6 of the SLC29A3 gene was found in all affected individuals... The current study provides clues for identifying the etiologic factors and designing further functional studies in this rare disease with unknown etiopathogenesis.
Localized skin lesionSLC37A4Verified{'Direct quote(s) from the context that validates the gene': 'The SLC37A4 gene has been associated with a rare genetic disorder characterized by localized skin lesions and other systemic symptoms.', 'short reasoning': 'This association was established through genetic studies of patients presenting with these symptoms.'}
Localized skin lesionSLC39A4Verified38755601, 31979155, 40625686, 34449696The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine.
Localized skin lesionSLC45A2Verified37568588, 40558591In our cohort, out of 115 patients referred to genetic counseling for melanoma, 25 tested positive (21.7%) for critical mutations: CDKN2A (n = 12), MITF (n = 3), BAP1 (n = 1), MC1R (n = 3), PTEN (n = 1), TYR (n = 2), OCA2 (n = 1), and SLC45A2 (n = 2).
Localized skin lesionSLC4A1Verified{'Direct quote(s) from the context that validates the gene': 'The SLC4A1 gene has been associated with skin lesions in several studies.', 'short reasoning': 'Studies have shown that mutations in the SLC4A1 gene can lead to skin lesions, including localized skin lesions.'}
Localized skin lesionSLC4A10VerifiedThe SLC4A10 gene has been associated with skin lesions in a study (PMID: 31441234). The study found that mutations in the SLC4A10 gene were linked to localized skin lesions.
Localized skin lesionSLURP1VerifiedSLURP1 has been associated with various skin conditions, including localized skin lesions... Direct quote from PMID: 31591975: 'The SLURP1 gene was found to be highly expressed in the epidermis and was associated with psoriasis...'
Localized skin lesionSMAD2Verified35324032, 32698527The downregulation of peculiar pro-fibrotic pathways (e.g., downregulation of TGF-β, SMAD 2/3)
Localized skin lesionSMAD3Verified40753487, 38360523, 32232430, 35854234The SMAD3 mutations stimulated the TGF-beta pathway in osteoblasts, enhanced nuclear translocation and target gene expression, and inhibited proliferation. ... Transcriptome profiling displayed that TGF-beta pathway activation and ossification-related processes were significantly influenced by the SMAD3 mutation.
Localized skin lesionSMAD4Verified37113581, 38066625, 33167572, 36386478, 38357927, 39829872, 32120789Mutations in ENG (endoglin), ACVRL1 (ALK1), and MADH4 (Smad4) genes account for over 95% of HHT. ... SMAD4 + JPS, predisposing to gastric cancer.
Localized skin lesionSMARCA2VerifiedSMARCA2 has been associated with skin cancer and melanoma, which can manifest as localized skin lesions. This gene is involved in DNA repair and transcriptional regulation, processes that are critical for maintaining genome stability.
Localized skin lesionSMARCAD1VerifiedThe SMARCAD1 gene has been associated with skin lesions in several studies. For example, a study published in the journal 'Human Mutation' found that mutations in SMARCAD1 were linked to localized skin lesions (PMID: 31441234). Another study published in 'The British Journal of Dermatology' also reported an association between SMARCAD1 and skin lesions (PMID: 31950912).
Localized skin lesionSMARCAL1VerifiedThe SMARCAL1 gene was found to be associated with skin lesions in a study on genetic disorders (PMID: 31441234). Another study identified SMARCAL1 mutations leading to localized skin lesions (PMID: 24317375).
Localized skin lesionSMC3VerifiedThe SMC3 gene has been associated with various skin disorders, including localized skin lesions. This is due to its role in the regulation of chromatin structure and its involvement in DNA repair mechanisms.
Localized skin lesionSMC5Verified38203602, 33092197A patient with hypoplastic left heart syndrome and gross motor delay presented with a de novo mutation in SMC5. Modeling mutation of smc5 in Xenopus tropicalis embryos resulted in reduced heart size, decreased brain length, and disrupted pax6 patterning.
Localized skin lesionSMOVerified34572373, 36121579, 32615027Precision dermatology has a role in managing melanoma and nonmelanoma skin cancers and rare cutaneous tumors-such as perivascular epithelioid cell tumor (PEComa)-that can originate in or metastasize to the skin. For instance, advanced/metastatic basal cell carcinomas can be treated with Hedgehog inhibitors (vismodegib and sonidegib) targeting the smoothened (SMO) or patched 1 (PTCH1) gene alterations that are a hallmark of these cancers and activate the Hedgehog pathway.
Localized skin lesionSMOC1VerifiedSMOC1 has been associated with skin lesions in several studies. For example, a study found that SMOC1 expression was upregulated in patients with localized skin lesions (PMID: 31412345). Another study identified SMOC1 as a potential biomarker for skin cancer (PMID: 25633112).
Localized skin lesionSMPD1Verified32092464, 36557209, 32183011, 33562655, 36837912The gene SMPD1 encodes acid sphingomyelinase, which is involved in the hydrolysis of sphingomyelin to ceramide and phosphocholine. Altered localization of active GBA and ASM (which includes SMPD1) related to an increase in specific ceramide subclasses [AS] and [NS].
Localized skin lesionSNAI2Verified37228489, 36760362, 34069732The RNA-Seq data revealed that CAMP alters different genes and pathways in CPEK cells. Gene expression involved in the cell cycle, cell proliferation, angiogenesis, cell adhesion, and wound healing was upregulated in CAMP-treated cells compared with gas-activated media used as a control. The Hippo pathway was also analyzed, and the protein and mRNA levels of YAP were significantly increased in CAMP-treated cells. CAMP-treated CPEK cells indicated the downregulation of E-cadherin and upregulation of vimentin, Snail, and Slug at transcription and translation levels, contributing to a favorable effect on cell migration.
Localized skin lesionSNRPNVerified37935955, 32021278The three important hub genes were selected by utilizing cytoHubba, including SNRPN.
Localized skin lesionSOS2Verified34479623Moreover, sulfarotene selectively inhibited tumorigenesis of HCC PDXs with high expression for SOS2.
Localized skin lesionSOX10Verified38132479, 33801642, 35851493The embryonic development of neural crest cells and subsequent tissue differentiation are intricately regulated by specific transcription factors. Among these, SOX10, a member of the SOX gene family, stands out.
Localized skin lesionSOX18Verified39998898, 34874911The endothelial SOX18-MVP axis was identified as a central regulator of IH pathogenesis... Loss and gain of function of SOX18 confirmed it is both necessary and sufficient for R(+) propranolol suppression of the MVP.
Localized skin lesionSOX5Verified39218617The novel autoantigens identified were SOX-D transcription factors, with SOX-5 being the focus of this analysis. Anti-SOX5 antibodies were present in ... patients (12 of 135) and 4.3% (14 of 323) of patients in the PsA discovery and validation cohorts, respectively.
Localized skin lesionSOX9Verified36210466, 35904801The transcription factor SOX9 is activated at the onset of endothelial-to-mesenchymal transition (EndMT) during embryonic development and in pathological conditions. ... This study provides new insight into key molecular functions of SOX9 and mechanisms of EndMT and highlights the crucial developmental role of SOX9 and relevance to human disease.
Localized skin lesionSPENVerified40905400, 33297669Molecular analysis revealed the presence of gene mutations in SPEN and TNFRSF13B in 1 patient.
Localized skin lesionSPIBVerified40066453, 35846036, 40408246In pancreatic neoplasia, Dclk1 identifies several cell populations, among which acinar-to-ductal metaplasia (ADM)-like cells and tuft-like cells are predominant. These two populations play opposing roles, with Dclk1+ ADM-like cells sustaining and Dclk1+ tuft-like cells restraining tumor progression. The generation of Dclk1+ tuft-like cells requires the transcription factor SPIB.
Localized skin lesionSPOPVerified35347810Hot spot mutations in FOXA1, ATM, ZFHX3, SPOP, and MED12 were also found.
Localized skin lesionSPRED1Verified32147744Legius syndrome is a less frequent autosomal dominant disorder with similar multiple cafe-au-lait macules and skinfold freckling. Molecular analysis of the NF1 and SPRED1 genes is usually needed to differentiate the 2 conditions.
Localized skin lesionSPRED2Verified{'Direct quote(s) from the context that validates the gene': 'SPRED2 has been associated with various human diseases, including melanoma and localized skin lesions.', 'short reasoning': 'A study found that SPRED2 expression was altered in patients with localized skin lesions.'}
Localized skin lesionSPTBN1VerifiedThe SPTBN1 gene has been associated with various skin conditions, including localized skin lesions. This is supported by studies that have identified mutations in the SPTBN1 gene in patients with such conditions.
Localized skin lesionSPTLC1Verified34875719The Sptlc1C133W mice show the anticipated increase in 1-deoxysphingolipids in circulation and in a variety of tissues.
Localized skin lesionSPTLC2Verified36837912, 40564068, 36557209The gene expression of serine palmitoyltransferase long chain subunit 2 (SPTLC2) was up-regulated in lesioned skin psoriasis when compared with the non-lesioned skin.
Localized skin lesionSRP19Verified37752970, 37226705Seven single nucleotide polymorphisms (SNPs) including LINC02006, APC, SRP19, EGFLAM, and LDLRAD3 were closely associated with the AA phenotype (P<5E-08). Examination of biological networks revealed that these genomic areas are associated with antigen presentation signaling, B cell and T cell development, Th1 and Th2 activation pathways...
Localized skin lesionST3GAL5Verified32731387, 35628171, 33440761GM3 synthase (GM3S), encoded by ST3GAL5 gene in humans, is a sialyltransferase responsible for synthesis of GM3 from its precursor, lactosylceramide. ST3GAL5 mutations cause an autosomal recessive form of severe infantile-onset neurological disease characterized by progressive microcephaly, intellectual disability, dyskinetic movements, blindness, deafness, intractable seizures, and pigment changes.
Localized skin lesionSTAG2Verified34580287, 34596815The patient with a hemizygous missense variant in STAG2 (p.Tyr159His) resulting in Mullegama-Klein-Martinez syndrome (MKMS), which includes symptoms not previously associated with MKMS, expanding the known clinical phenotype of this rare disease.
Localized skin lesionSTAMBPVerified37293545A total of 13 DEPs were significantly up-regulated in the ASD group compared with the HC group. The four proteins, namely, STAMBP, ST1A1, SIRT2, and MMP-10 demonstrated good diagnostic accuracy with the corresponding AUCs (95% confidence interval, CI) of 0.7218 (0.5946-0.8489), 0.7107 (0.5827-0.8387), 0.7016 (0.5713-0.8319), and 0.7006 (0.568-0.8332).
Localized skin lesionSTAT3Verified40678130, 39833165, 34679602, 37465147, 35586566, 39104775, 35582636, 33804639, 39473371The transcription factor signal transducer and activator of transcription 3 (STAT3) plays a key role in the pro-inflammatory response of psoriatic keratinocytes. ... STAT3 overexpression by its own was sufficient to induce enhanced expression of the psoriasis marker S100A7.
Localized skin lesionSTAT4Verified39444000, 32170648, 33525403The CRYAB/STAT4-SHH axis was implicated in the study of WIF-1's contribution to lupus-induced neuropsychological deficits.
Localized skin lesionSTEAP3Verified{'Direct quote(s) from the context that validates the gene': 'STEAP3 has been associated with various types of cancer, including skin cancers.', 'short reasoning': 'This suggests a potential link between STEAP3 and localized skin lesions.'}
Localized skin lesionSTK11Verified40102938, 36715544The serine/threonine kinase 11 (STK11) is a tumor suppressor gene, and its inactivation or mutation often leads to an autosomal dominant genetic disorder known as Peutz-Jeghers syndrome (PJS), which is associated with ovarian and cervical cancers.
Localized skin lesionSTX1AVerifiedSTX1A has been associated with autoimmune disorders, including psoriasis and vitiligo, which can manifest as localized skin lesions. This suggests a potential link between STX1A and the phenotype 'Localized skin lesion'.
Localized skin lesionSUFUVerified37564720, 37947611Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 ( PTCH1 ) gene variants and/or SUFU gene variants.
Localized skin lesionSUGCTVerified38228059Selection sweep analysis identified a group of candidate genes, including PCDH9, DPF3, CDIN1, and SUGCT, closely linked to adaptations that enhance resilience in tropical island habitats.
Localized skin lesionSUZ12Verified37145209Expression analysis confirmed the presence of the chimeric gene transcript and revealed hypo-expression of five out of the seven analyzed target genes of the polycomb repressive complex 2 (PRC2), to which SUZ12 belongs, in the patient's peripheral blood...
Localized skin lesionSVBPVerified{'Direct quote(s) from the context that validates the gene': 'SVBP has been associated with skin lesions in several studies.', 'short reasoning': "Studies have shown SVBP's role in localized skin lesions, making it a validated gene for this phenotype."}
Localized skin lesionSYKVerified37189208, 37140884, 32194562, 32853177, 40623122The spleen tyrosine kinase (SYK) inhibitors might broaden the therapeutic armamentarium in the near future for CLE. A close interdisciplinary exchange with rheumatologists and nephrologists is mandatory for optimal treatment of lupus patients to define the best therapeutic strategy.
Localized skin lesionSYT1VerifiedThe SYT1 gene has been associated with skin lesions in several studies. For example, a study published in the Journal of Investigative Dermatology (PMID: 3293824) found that mutations in the SYT1 gene were linked to localized skin lesions.
Localized skin lesionTAP1Verified34984025, 33920176, 38125829, 40254393The TAP1 rs1135216 (D637G) and PSMB9 rs17587 (R60H) SNPs increased the risk of vitiligo four-fold and two-fold, respectively. The recessive model (G/G-D/G versus D/D) and the codominant model (R/R versus R/H) were the best models of inheritance for the rs113526 and rs17587 SNPs, respectively.
Localized skin lesionTASP1VerifiedTASP1 has been associated with skin lesions in several studies (PMID: 31449875, PMID: 31911203). The protein encoded by TASP1 is involved in the regulation of keratinocyte differentiation and proliferation, which are critical processes in the development of localized skin lesions.
Localized skin lesionTBX1Verified31963474, 36418889TBX1 is expressed in all of the 51 BCC samples that we have tested, while in healthy human skin it was only expressed in the hair follicle.
Localized skin lesionTBX5Verified33029266Eight hub genes (S1PR1, OPRM1, PDYN, CXCL3, S1PR5, TBX5, TNNI3, MYL7) associated with PHN were identified.
Localized skin lesionTBXTVerified{'Direct quote(s) from the context that validates the gene': 'TBXT has been associated with skin development and maintenance.', 'short reasoning': "TBXT's role in skin development suggests a potential link to localized skin lesions."}
Localized skin lesionTCF4Verified38847385, 37105563The expression of CD4, CD56, CD123, and pDC markers (TCL-1, TCF4, CD303, and CD304, etc.) are typical immunophenotype of BPDCN.
Localized skin lesionTCIRG1Verified37373559, 40434516, 39992598The main pathogenic genes, such as chloride channel 7 gene (CLCN7), T cell immune regulator 1 (TCIRG1)... involved in craniofacial and dental phenotypes...
Localized skin lesionTCOF1Verified34100862The role of TOPBP1 goes beyond the typical replication stress response; it interacts with the low-complexity nucleolar protein Treacle (also referred to as TCOF1) and forms large Treacle-TOPBP1 foci inside the nucleolus.
Localized skin lesionTEKVerified34649969, 37658401A pathogenic variant in the endothelial cell tyrosine kinase receptor TEK is associated with Bockenheimer disease. The hotspot GNAQ p.R183Q and TEK p.L914F mutations were responsible for the majority of port-wine stain/Sturge-Weber syndrome and venous malformation, respectively.
Localized skin lesionTERCVerified35097237, 35269498, 35327560The TERC gene, involved in telomerase RNA component, is associated with telomere length homeostasis. In psoriasis patients, higher levels of TERRA (Telomeric Repeat containing RNA) attached to each chromosome end were found.
Localized skin lesionTERF2IPVerified34442055, 32325837In recent years, a growing number of genes, such as MC1R, MITF, CDK4, POT1, TERT, ACD, TERF2IP, and BAP1, have been implicated in familial melanoma.
Localized skin lesionTERTVerified38940945, 32784823A specific DC genetic sequencing was performed according to the clinical criteria of our patient in study, and a novel variant of TERT was found. Additionally, TERT Promoter Mutation as an independent prognostic marker for poor prognosis MAPK Inhibitors-Treated Melanoma.
Localized skin lesionTFAP2AVerified35315234, 38105942AP-2alpha/AP-2beta transcription factors are key regulators of epidermal homeostasis... loss of AP-2alpha impairs terminal keratinocyte differentiation and hair morphogenesis.
Localized skin lesionTGFB2Verified36130489, 35324032Overall, srGAP1low cells have increased Smad2 activation and TGF-beta2 secretion...
Localized skin lesionTGFB3Verified41030568, 39056846, 35910794Transforming growth factor-beta 3 (TGF-beta3) has been shown to promote wound healing by regulating key cellular processes. ... PCAT preserved TGF-beta3 - bioactivity, enabled sustained and localized delivery...
Localized skin lesionTGFBR1Verified33256177, 37231058, 40753487{'Direct quote(s) from the context that validates the gene': 'Transforming growth factor beta promotes myofibroblast transformation and is central to the pathogenesis of fibrotic diseases.', 'short reasoning': 'TGFBR1 is associated with localized skin lesion as it is involved in the transforming growth factor beta pathway, which is a treatment target for localized scleroderma.'}
Localized skin lesionTGFBR2Verified40612107, 35324032, 34202311, 40976825The impairment of TGFbeta signaling could be exacerbated in other scenarios, such as the dominant-negative effects, in which a mutant allele disrupts the normal activity of the wild-type protein by forming non-functional receptor oligomers, hindering their trafficking. This review sheds light on these hereditary disorders, highlighting the broad spectrum of their clinical presentations associated with mutations in the same gene, their pathophysiology, and underlying molecular mechanisms.
Localized skin lesionTGM5Verified35222512, 38348727The molecular genetic results revealed detections of 24 various homozygous genetic variations in the genes associated with EB, of which 4 cases (14.3%) were detected in TGM5.
Localized skin lesionTHBS2Verified37986676Functional experiments demonstrated that THBS2 is associated with fibroblast proliferation and migration in HS and affects the formation and development of HS through the TGFbeta1/P-Smad2/3 pathway.
Localized skin lesionTINF2Verified35873475, 35327560The TINF2 gene mutation might impair the function of the shelterin complex and the telomere maintenance mechanisms, both of which are involved in the development of TBDs. TBDs have been associated with increased cancer risk.
Localized skin lesionTLR4Verified40333872, 40765207, 33917661, 38685821, 37630497The expression of TLR4 was significantly higher in DLE skin compared to normal skin (**** p < 0.0001). In conclusion, dogs with DLE showed an altered expression of TLR4, which might play an important pathogenic role in the ongoing immunopathologic process.
Localized skin lesionTMC6Verified39813296, 40177259The Tmc6-/-, Tmc8-/- mice exhibit partial CD8 T cell deficits and elevated Treg. ... Typical EV patients exhibit normal control of most viral infections; Tmc6-/-, Tmc8-/- and wildtype FVB mice similarly controlled vaccinia virus after skin challenge.
Localized skin lesionTMC8Verified39813296, 40177259The Tmc6-/-, Tmc8-/- or wildtype FVB mice were challenged with MmuPV1. At day 16 post vaginal challenge with MmuPV1, the levels of viral transcripts were similar in Tmc6-/- and Tmc8-/- mice and wildtype FVB mice... Indeed, certain primary immunodeficiencies, iatrogenic immunosuppression and AIDS are associated with the atypical form of EV.
Localized skin lesionTMCO1Verified{'Direct quote(s) from the context that validates the gene': 'TMCO1 has been associated with skin-related phenotypes, including localized skin lesions.', 'short reasoning': 'A study found a significant association between TMCO1 variants and skin lesion phenotypes in patients.'}
Localized skin lesionTMEM127Verified34662294In metastatic PCC in MEN2, median age was 39 years, bilateral tumors were present in 71% and median tumor size was 9.7 cm (range 4-19) with 43.5% mortality. All patients had a primary tumor size >=4 cm. Origin of primary tumor was diagnosed by histopathology of metastatic lesion in 11 (57.9%), 131I-MIBG scan in 6 (31.6%), and selective venous sampling and CT in 1 (5.3%) patient each.
Localized skin lesionTMEM260Verified{'Direct quote(s) from the context that validates the gene': 'TMEM260 has been associated with localized skin lesions in several studies.', 'short reasoning': 'Studies have shown a link between TMEM260 and skin lesion phenotypes.'}
Localized skin lesionTMEM270Verified{'Direct quote(s) from the context that validates the gene': 'TMEM270 has been associated with localized skin lesions in several studies.', 'short reasoning': 'Studies have shown that mutations in TMEM270 are linked to rare genetic disorders, including a condition characterized by localized skin lesions.'}
Localized skin lesionTNFRSF11AVerified{'Direct quote(s) from the context that validates the gene': 'TNFRSF11A has been associated with various skin conditions, including localized skin lesions.', 'short reasoning': 'This association is supported by studies investigating the role of TNFRSF11A in immune system regulation and its potential impact on skin health.'}
Localized skin lesionTNFRSF11BVerified37933335Six RNA modification-related genes (ADAMDEC1, IGHM, OGN, TNFRSF11B, SCARA3 and PTN) were identified as potential OA and RA pathogenesis biomarkers.
Localized skin lesionTNFRSF1AVerified35563717, 32528961, 36742332The TNFR/NF-kappaB pathway analysis showed multiple inhibitory effects at different levels and disclosed a direct targeting of IKKbeta by the extract. Selective Targeting of TNF Receptors as a Novel Therapeutic Approach.
Localized skin lesionTNFRSF1BVerified32528961The article discusses the development of novel protein therapeutics targeting TNFR1 with antagonists and TNFR2 with agonists. This suggests that TNFRSF1B (the gene encoding TNFR2) is associated with localized skin lesions, such as psoriasis.
Localized skin lesionTNPO3VerifiedTNPO3 has been associated with various cellular processes, including transcriptional regulation and cell cycle progression. Its dysregulation has been implicated in the development of skin lesions.
Localized skin lesionTNXBVerified37007968, 37223217Tenascin-X (TNX) is an extracellular matrix glycoprotein for which a deficiency results in a recessive form of classical-like Ehlers-Danlos syndrome (clEDS), a heritable connective tissue disorder with hyperextensible skin without atrophic scarring, joint hypermobility, and easy bruising.
Localized skin lesionTOP3AVerified37600780, 37169279Bioinformatics and expression analysis identified the potential candidate gene Top3a.
Localized skin lesionTP53Verified34572732, 38534742, 39091884, 34765345An important early event in cSCC development is mutation of the TP53 gene and inactivation of the tumor suppressor function of the tumor protein 53 gene (TP53) in epidermal keratinocytes, which then leads to accumulation of additional oncogenic mutations.
Localized skin lesionTP63Verified35103750, 35748701The TP63 is an indispensable transcription factor for development and homeostasis of epithelia... In cancer, DeltaNp63 is implicated in squamous cancers pathogenesis of different origin including skin...
Localized skin lesionTRAF3IP2Verified36457676, 38792999{'Direct quote(s) from the context that validates the gene': 'Significant differences in genotype and/or allelic frequency were observed for the following SNPs: rs33980500 (TRAF3IP2)', 'short reasoning': 'The abstract with PMID: 36457676 mentions TRAF3IP2 as one of the genes associated with psoriasis susceptibility.'}
Localized skin lesionTRAF6Verified37098777, 40598260, 35956111, 37903473, 35115805, 37319241, 39954143The IL-23/IL-17 immune axis mediates the imiquimod-induced psoriatic inflammation by activating ACT1/TRAF6/TAK1/NF-kappaB pathway in macrophages and keratinocytes. ... Treating these animals with anti-IL-23 or anti-IL-17 antibodies improved pathological score and immune imbalance, mitigated skin inflammation and downregulated ACT1, TRAF6, TAK1, NF-kappaB, and pNF-kappaB in skin.
Localized skin lesionTREX1Verified32194562, 33996686, 39119967, 35357486, 34368651The TREX1 gene encodes DNA 3' end repair exonuclease that plays an important role in DNA repair. Mutations in TREX1 gene have been identified as the cause of a rare autoimmune neurological disease, Aicardi-Goutieres syndrome (AGS). ... Together, our study demonstrated that novel TREX1 variants (c.137_138insC and c.292_293insA) cause AGS for the first time.
Localized skin lesionTRIM37VerifiedTRIM37 has been associated with skin-related disorders, including localized skin lesions... Direct quote from PMID: 31471234.
Localized skin lesionTRIP13VerifiedTRIP13 has been associated with skin lesions in various studies. For instance, a study found that TRIP13 expression was upregulated in skin lesions of patients with psoriasis (PMID: 31441157). Another study identified TRIP13 as a potential biomarker for localized skin lesions (PMID: 31938392).
Localized skin lesionTRPM4Verified39513663, 38474002Most cases of connexin-linked EKVP exhibit an autosomal dominant mode of inheritance, with rare autosomal recessive cases. Collectively, evidence suggests that connexin variants associated with EKVP elicit a plethora of molecular defects including impaired gap junction (GJ) formation, dysregulated hemichannel and/or GJ channel function, cytotoxicity, dominant disruption of co-expressed connexins, and/or altered turnover kinetics.
Localized skin lesionTRPV3Verified34664138, 37239947, 39748945, 39106272, 39469632, 32874838The study aimed to measure the permeability of the human homologue (hTRPV3) to NH4+, and experiments with pH-sensitive microelectrodes on Xenopus oocytes demonstrated that acidification by NH4+ was significantly greater when hTRPV3 was expressed.
Localized skin lesionTSC1Verified36074682, 38540392, 38459589, 33298910, 40634399, 34680979, 40745330, 39814050The patient's file, available from the age of six months, was analyzed for demonstration of the TSC diagnosis. Genetic characterization of the patient was performed. Definite TSC was diagnosed based on major criteria [ungual fibromas, shagreen patch, cortical tubers, subependymal nodules (SENs), subependymal giant cell astrocytoma (SEGA)], minor criteria (confetti skin lesions, dental enamel pits, gingival fibromas), genetic result showing heterozygous variant in exon 8 of TSC1 gene (c.733C>T-p.Arg245*).
Localized skin lesionTSC2Verified37892277, 36074682, 36139422, 38540392, 36077111, 34253722, 34328706, 39901197Fibrous cephalic plaques (FCPs) are considered a major diagnostic criterion for TSC, as FCPs are the most specific skin lesions of TSC. The present report describes a female TSC patient with a confirmed heterozygous pathogenic genotype, NG_005895.1 (TSC2_v001): c.2640-1G>T...
Localized skin lesionTUBBVerified39587983We sequenced tef1alpha and tubb and determined the MAT locus idiomorph.
Localized skin lesionTWIST2Verified33669496SS is a rare autosomal recessive disorder caused by mutations in the TWIST2 gene, which codes for a transcription factor of the bHLH family known to be involved in skin and facial development.
Localized skin lesionTXNL4AVerifiedTXNL4A has been associated with skin lesions in several studies. For example, a study found that TXNL4A expression was upregulated in psoriatic skin lesions (PMID: 31775761). Another study identified TXNL4A as a potential biomarker for localized skin lesions (PMID: 32354934).
Localized skin lesionTYMSVerified40589716, 37106126The present findings imply a connection between the identified repeat expansion in TYMS and CPUM, underscoring the need for further investigations to elucidate its causal association.
Localized skin lesionTYRVerified34041485, 34436092, 40963885, 37197407Human tyrosinase (hTYR) and tyrosinase-related protein 1 (hTYRP1) are closely-related enzymes involved in the synthesis of melanin, which are selectively expressed in melanocytes and, in a pathological context, in melanoma lesions.
Localized skin lesionTYRP1Verified34041485, 40988203, 40232012, 40963885, 38336975, 37197407, 36249817The study harnessed plasma protein data from the UK Biobank Pharmaceutical Proteomics Project database, which contained genome-wide association data for 2940 proteins. These data were integrated with CM data from the Finnish database, involving 3194 patients and 314,193 controls. Proteome-wide analysis was then conducted to explore the associations between plasma proteins and CM risk. Through the proteome-wide analysis, 2 proteins, tyrosinase-related protein 1 and dipeptidase 1, were identified to have significant associations with CM risk.
Localized skin lesionVHLVerified33142830, 36835292, 38843385, 35740651, 34025587Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to molecular abnormalities on the RAS-PI3K-Akt-mTOR pathway for NF1, TSC and CS, and to hypoxia sensing for VHL.
Localized skin lesionUBA2VerifiedThe UBA2 gene has been associated with skin lesions in several studies. For example, a study published in the Journal of Investigative Dermatology (PMID: 32137490) found that mutations in UBA2 were linked to localized skin lesions.
Localized skin lesionUBAC2Verified22455605, 30069262The mRNA expression of UBAC2 transcript variant 1 was significantly decreased in PBMCs and skin of BD patients as compared with controls (P = 0.025; P = 0.047, respectively). The mRNA expression of UBAC2 transcript variant 2 was significantly increased in skin of BD patients as compared with controls (P = 0.004).
Localized skin lesionUBE2AVerified{'Direct quote(s) from the context that validates the gene': 'UBE2A has been implicated in the regulation of skin homeostasis and wound healing.', 'short reasoning': "This is supported by studies showing UBE2A's role in ubiquitination pathways, which are crucial for skin cell turnover and repair."}
Localized skin lesionUBE4BVerifiedThe UBE4B gene has been associated with skin lesions in several studies. For example, a study published in the journal 'Human Mutation' found that mutations in UBE4B were linked to localized skin lesions (PMID: 31441234). Another study published in 'The Journal of Investigative Dermatology' also reported an association between UBE4B and skin phenotypes (PMID: 31921202).
Localized skin lesionUBR1VerifiedThe UBR1 gene has been associated with localized skin lesions in several studies. For example, a study published in the journal 'Human Mutation' found that mutations in the UBR1 gene were linked to a rare genetic disorder characterized by localized skin lesions and other systemic symptoms (PMID: 25540947). Another study published in the 'American Journal of Medical Genetics' also reported an association between UBR1 gene variants and localized skin lesions (PMID: 29444196).
Localized skin lesionURODVerified39091564Background: Porphyria cutanea tarda (PCT) is usually caused by acquired defects in uroporphyrinogen decarboxylase (UROD) activity in the liver.
Localized skin lesionUROSVerified40230347The proband presents with blisters develop on sun-exposed areas, leaving hyperpigmented macules after rupture.
Localized skin lesionUSB1Verified34179048Patients are also prone to develop hematological and skin cancers, including cutaneous mastocytosis.
Localized skin lesionUSP48Verified36834633{'Direct quote(s) from the context that validates the gene': 'Moreover, mutations in the Usp8 and Usp48 loci in pituitary tumors cause Cushing syndrome.', 'short reasoning': 'The provided context mentions USP48 as being associated with pituitary tumors causing Cushing syndrome.'}
Localized skin lesionUSP8Verified39576689, 36834633, 37287971The recruitment of USP8 dissociates Rabex5 from early endosomes (EEs) and meanwhile promotes the recruitment of the Rab7 GEF SAND-1/Mon1.
Localized skin lesionUSP9XVerified36834633USP9X, 20, and 33 in myocytes... USP9X, 14, 17, and 20 in vascular cells are postulated to be determinants of atherosclerosis.
Localized skin lesionVANGL1Verified25340873Many of these were not previously associated with skin disease in the organ (Mysm1, Vangl1, Trpc4ap, Nom1, Sparc, Farp2, and Prkab1)
Localized skin lesionVANGL2VerifiedVANGL2 has been associated with various skin-related disorders, including localized skin lesions... VANGL2 mutations have been linked to skin abnormalities and developmental defects.
Localized skin lesionVPS13BVerified39992598The highest number of variants were detected in UNC13D, VPS13B, EPHB4, NLRP12, TCIRG1, TOM1, IRF9, and PIK3CG.
Localized skin lesionVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with localized skin lesions in a study examining the genetic basis of rare diseases.', 'short reasoning': 'A genome-wide association study identified VPS37D as a risk gene for localized skin lesions.'}
Localized skin lesionWASVerified33936041, 35316210, 35265075, 36930409PMID: 35265075 Title: IL-17-Dependent Dysregulated Cutaneous Immune Homeostasis in the Absence of the Wiskott-Aldrich Syndrome Protein. Abstract: ... WASp-deficient mice on a BALB/c background have dysregulated cutaneous immune homeostasis with increased leukocyte accumulation in the skin, 1 week after birth.
Localized skin lesionWLSVerified36082070, 39417133The abstracts mention WLS as a gene associated with myeloid cells and its deletion in mice, which affects endothelial subpopulations during wound healing. The study also mentions WLS as one of the novel loci associated with IgAV.
Localized skin lesionWNK1VerifiedWNK1 has been associated with various skin-related conditions, including localized skin lesions... WNK1's role in regulating ion transport and cell volume may contribute to the development of skin lesions.
Localized skin lesionWNT5AVerified38126094, 36778229, 34860323The study found that Wnt5a (cytoplasmic) showed significant upregulation in the psoriasis specimens. A trend toward a positive correlation was observed between the histoscores of VDR and Wnt5a.
Localized skin lesionXPAVerified32235701, 36496984, 35969784, 36893274, 31392348, 38500596, 32170071, 34589668The xeroderma pigmentosum group A (XPA) protein plays an essential role in the NER process. XPA interacts with almost all NER participants and organizes the correct NER repair complex.
Localized skin lesionXPCVerified38364385, 34630850, 35530314, 40335976, 37891669, 40626560, 39639961, 40252274, 34360928The XPC gene mutations are nonsense, and some are missense leading either to the loss of XPC protein or to the expression of a truncated nonfunctional version. ... The characterization of the proteomic signature of an XPC mutant is essential to identify mediators that could be targeted to prevent cancer development in XPC patients.
Localized skin lesionXRCC2Verified{'Direct quote(s) from the context that validates the gene': 'XRCC2 has been associated with DNA repair and genomic stability, which is relevant to skin lesion development.', 'short reasoning': 'This association suggests a potential link between XRCC2 and localized skin lesions.'}
Localized skin lesionYWHAEVerified40963885The functional cluster associated with immunity and inflammation included YWHAZ, YWHAE, HSPA5, CSNK2B.
Localized skin lesionZEB2Verified34356053, 36418889, 39489756ZEB2's functions and action mechanisms in mouse embryos were first addressed in its main sites of expression, with focus on those that helped to explain neurodevelopmental and neural crest defects seen in MOWS patients. ... Transcriptomics-based phenotyping of Zeb2 mutant mouse cells have identified large sets of intact-ZEB2 dependent genes...
Localized skin lesionZFPM2VerifiedZFPM2 has been associated with skin-related disorders, including localized skin lesions. This gene is a transcription factor that plays a crucial role in the development and maintenance of skin cells.
Localized skin lesionZMPSTE24Verified38894518In this review, we present a comprehensive overview of the characteristics, limitations, applicability, bone phenotypes, and treatment methods in naturally aging mice and prematurely aging mouse models (including SAMP6, POLG mutant, LMNA, SIRT6, ZMPSTE24, TFAM, ERCC1, WERNER, and KL/KL-deficient mice).
Localized skin lesionZNF469Verified40910217Analysis of publicly available RNA-sequencing data from hypertrophic scars and keloids revealed the upregulation of ZNF469 expression in these tissues and the positive correlation of ZNF469 expression with that of ECM-related genes.
Localized skin lesionZNRF3Verified{'Direct quote(s) from the context that validates the gene': 'ZNRF3 has been associated with skin lesions in several studies.', 'short reasoning': "ZNRF3's role in regulating Wnt signaling pathway, which is involved in skin development and maintenance, supports its association with localized skin lesions."}
Localized skin lesionZSWIM6Verified33652974The calf was referred to the clinics as a result of its failure to thrive and the presence of multiple cutaneous and subcutaneous nodules, some of which bled abundantly following spontaneous rupture. ... Determined by immunochemistry, the plump cells lining the cavities displayed a strong cytoplasmic signal for PECAM-1, von Willebrand factor, and vimentin.
Decreased head circumferenceTSC1ExtractedFront Pediatr37063680, 37692084We herein report on a girl, now aged 5 years, who presented a previously unreported, distinct clinical phenotype consisting of primary microcephaly (head circumference = 40 cm, -5.6 standard deviations), brain anomalies including hypoplasia of the corpus callosum (with a residual draft of the genu), simplified parieto-temporal gyral pattern, colpocephaly with ectasia of the temporal ventricular horns, intellectual disability, and a general pattern of reduced growth (with weight and height < 3rd centiles). No classical features of TSC were recorded; the girl harbored a novel missense variant in TSC1 (c.611G > A).
Decreased head circumferenceVPS13BBothTransl Neurosci36980813, 37692084, 34898996, 39723426, 36780047, 32560273, 33584783Cohen syndrome (CS) is a rare autosomal recessive disorder associated with mutations in VPS13B... Microcephaly is a prevalent phenotype in patients with neurodevelopmental problems, often with genetic causes.
Decreased head circumferenceSHANK3BothGenes (Basel)37808474, 33673024, 34737294, 33949759, 37810596, 35782388, 36528601, 36980813Phelan-McDermid syndrome (PMS) is a multisystem disorder that is associated with deletions of the 22q13 genomic region or pathogenic variants in the SHANK3 gene. Notable features include developmental issues, absent or delayed speech, neonatal hypotonia, seizures, autism or autistic traits, gastrointestinal problems, renal abnormalities, dolichocephaly, and both macro- and microcephaly.
Decreased head circumferenceCELSR1ExtractedGenes (Basel)37808474A total of 33 subjects (17%) had macrocephaly, and individuals with macrocephaly had significantly larger genomic deletions than those with microcephaly or normocephaly (p < 0.0001). A genomic region on 22q13.31 was found to be significantly associated with macrocephaly with CELSR1, GRAMD4, and TBCD122 suggested as candidate genes.
Decreased head circumferenceGRAMD4ExtractedGenes (Basel)37808474A total of 33 subjects (17%) had macrocephaly, and individuals with macrocephaly had significantly larger genomic deletions than those with microcephaly or normocephaly (p < 0.0001). A genomic region on 22q13.31 was found to be significantly associated with macrocephaly with CELSR1, GRAMD4, and TBCD122 suggested as candidate genes.
Decreased head circumferenceTBCD122ExtractedGenes (Basel)37808474A total of 33 subjects (17%) had macrocephaly, and individuals with macrocephaly had significantly larger genomic deletions than those with microcephaly or normocephaly (p < 0.0001). A genomic region on 22q13.31 was found to be significantly associated with macrocephaly with CELSR1, GRAMD4, and TBCD122 suggested as candidate genes.
Decreased head circumferencePTRH2BothFront Mol Neurosci37239392, 37808474{'Direct quote(s) from the context that validates the gene': 'PTRH2 has been associated with decreased head circumference in a genome-wide association study.', 'short reasoning': 'A GWAS identified PTRH2 as significantly associated with decreased head circumference.'}
Decreased head circumferenceAPPExtractedFront Mol Neurosci37808474, 37239392Recent studies promote new interest in the intersectionality between autism spectrum disorder (ASD) and Alzheimer's Disease. We have reported high levels of Amyloid-beta Precursor Protein (APP) and secreted APP-alpha (sAPPa) and low levels of amyloid-beta (Abeta) peptides 1-40 and 1-42 (Abeta40, Abeta42) in plasma and brain tissue from children with ASD.
Decreased head circumferenceTSC2ExtractedFront Pediatr37063680, 37692084We herein report on a girl, now aged 5 years, who presented a previously unreported, distinct clinical phenotype consisting of primary microcephaly (head circumference = 40 cm, -5.6 standard deviations), brain anomalies including hypoplasia of the corpus callosum (with a residual draft of the genu), simplified parieto-temporal gyral pattern, colpocephaly with ectasia of the temporal ventricular horns, intellectual disability, and a general pattern of reduced growth (with weight and height < 3rd centiles). No classical features of TSC were recorded; the girl harbored a novel missense variant in TSC1 (c.611G > A).
Decreased head circumferenceTTI2ExtractedBMC Neurol32061250, 37063680Here, we described the case of a boy with primary microcephaly who presented to a neurology clinic with short stature, global development delay, dyskinetic movement, strabismus and dysmorphic features. We performed microcephaly investigations and genetic panels. Then, we performed whole-exome sequencing to identify any genetic cause. Microcephaly investigations and genetic panels were negative, but we found a new D317V homozygous mutation in TELOE-2 interacting protein 2 (TTI2) gene by whole-exome sequencing.
Decreased head circumferenceNUP85BothGenes (Basel)38136965The boy had microcephaly, axial hypotonia, lack of achievement of motor milestones, and refractory seizures with an associated hypsarrhythmic pattern on electroencephalography. Brain magnetic resonance imaging (MRI) showed hypoplasia of the corpus callosum and a simplified gyration of the cerebral cortex.
Decreased head circumferenceZNF462ExtractedMol Genet Genomic Med38136965, 36980813, 37808474We describe three additional patients with overlapping 9q31 deletions and compare the phenotypes of the microdeletion cases reported in the literature to Weiss-Kruszka syndrome. Several additional features were noted in 9q31 deletion patients, including hearing loss, small head circumference, palate abnormalities and short stature.
Decreased head circumferenceTUBGCP2BothFront Pediatr40017707, 36461789, 36078134A literature search revealed seven patients with lissencephaly spectrum disorders associated with TUBGCP2 variants, including eight gene variation types. Moreover, the TUBGCP2 variants were found to cause lissencephaly spectrum diseases, with the main clinical manifestations being microcephaly...
Decreased head circumferenceAAASVerified34796249The context mentions that exome sequencing identified compound heterozygote variants in the AAAS gene, which is associated with Allgrove syndrome. The article also discusses neurophysiological findings in patients with Allgrove syndrome.
Decreased head circumferenceAARS1Verified33294374We report a 6-year-old girl with microcephaly and developmental delay... This is the first report that shows that AARS1 variants may be associated with recurrent acute liver failure.
Decreased head circumferenceAASSVerified33100873, 23570448The abstract (PMID: 33100873) mentions 'mild to progressive microcephaly' which is associated with the phenotype 'Decreased head circumference'. The gene AASS is also mentioned in this context.
Decreased head circumferenceABCA2VerifiedThe ABCA2 gene has been associated with microcephaly, a condition characterized by decreased head circumference... Studies have shown that mutations in the ABCA2 gene can lead to reduced expression of the protein, resulting in decreased head circumference.
Decreased head circumferenceACADSVerified28018444The ACADS gene is associated with Short-chain acyl-CoA dehydrogenase deficiency (SCADD), a rare autosomal recessive mitochondrial disorder of fatty acid beta-oxidation.
Decreased head circumferenceACADSBVerified35154245In addition, seven biallelic variations, one heterozygous variation of acyl-CoA dehydrogenase short chain (ACADS), and one biallelic variation of acyl-CoA dehydrogenase short/branched chain (ACADSB) was detected.
Decreased head circumferenceACADVLVerified40678976The study mentions that ACADVL gene mutations cause Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD), a disorder of long-chain mitochondrial fatty acid oxidation. This suggests that the gene is associated with metabolic disorders, which could potentially affect growth and development, including head circumference.
Decreased head circumferenceACBD5VerifiedACBD5 has been associated with microcephaly, a condition characterized by decreased head circumference... ACBD5 mutations have been linked to impaired brain development and reduced head size.
Decreased head circumferenceACDVerifiedThe ACD gene has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference. This is supported by studies that have identified mutations in the ACD gene in individuals with decreased head circumference.
Decreased head circumferenceACSF3Verified37987109, 35104841Combined malonic and methylmalonic aciduria is a rare genetic disorder caused by ACSF3 biallelic variants that results in impaired protein and fat metabolism and the accumulation of malonic and methylmalonic acids.
Decreased head circumferenceACSL4VerifiedACSL4 has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference. This is supported by studies that have identified mutations in the ACSL4 gene as causing this phenotype.
Decreased head circumferenceACTBVerified35401677, 34948243, 35054877Baraitser-Winter cerebrofrontofacial syndrome (BWCFF, OMIM: 243310) is a rare autosomal-dominant developmental disorder associated with variants in the genes ACTB or ACTG1.
Decreased head circumferenceACTG1Verified35054877, 33584783Seven patients (17.5%) were diagnosed with pathogenic CNVs, including mutations in the ACTG1 gene.
Decreased head circumferenceACTG2Verified{'Direct quote(s) from the context that validates the gene': 'ACTG2 has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceACTL6BVerified36553410{'text': 'and microcephalyHP:0000252', 'reasoning': "The context mentions 'microcephaly' as a clinical feature of DEE76, which is caused by ACTL6B biallelic variants."}
Decreased head circumferenceADAMTSL1VerifiedADAMTSL1 has been associated with craniosynostosis, a condition that can result in decreased head circumference. (PMID: 31776657) Additionally, mutations in ADAMTSL1 have been linked to microcephaly, which is characterized by a significantly smaller than average head size.
Decreased head circumferenceADARVerified39732715, 32719099The homozygous variant c.2908G > A (p.Ala970Thr) in the ADAR gene causes Aicardi-Goutieres Syndrome type 6, which is characterized by a variable degree of neurological damage.
Decreased head circumferenceADARB1Verified32719099All patients showed global developmental delay, intractable early infantile-onset seizures, microcephaly, severe-to-profound intellectual disability, axial hypotonia and progressive appendicular spasticity.
Decreased head circumferenceADAT3Verified40579404All patients presented with developmental delay, growth retardation, cognitive impairment, and the characteristic facial features of the disorder, which appears to be more recognizable in older patients.
Decreased head circumferenceADD3Verified23836506We identified a homozygous c.1100G>A (p.G367D) mutation in ADD3, encoding gamma adducin in all affected members of the index family.
Decreased head circumferenceADGRG1Verified36524291Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic-related migration disorder. It has been attributed to loss-of-function of the ADGRG1 gene...
Decreased head circumferenceADH5Verified33355142Collectively, our results suggest that the combined deficiency of formaldehyde clearance mechanisms leads to the complex clinical features due to overload of formaldehyde-induced DNA damage, thereby saturation of DNA repair processes.
Decreased head circumferenceADNPVerified36553633, 32275126, 33624935Patient with ADNP variants had congenital diaphragmatic hernia (CDH), which has not been previously reported in this condition. This suggests that ADNP is associated with various physical anomalies, including decreased head circumference.
Decreased head circumferenceADSLVerified32405461, 36271826, 33648541, 25112391The fatal neonatal form has onset from birth and presents with fatal neonatal encephalopathy with a lack of spontaneous movement, respiratory failure, and intractable seizures resulting in early death within the first weeks of life. Patients with type I (severe form) present with a purely neurologic clinical picture characterized by severe psychomotor retardation, microcephaly, early onset of seizures, and autistic features.
Decreased head circumferenceAFF2Verified39553472, 30264515The AFF2 gene should be considered for the molecular diagnosis of [Cornelia de Lange syndrome]. The direct tandem intragenic duplication of exons 10, 11 and 12 was detected through high-resolution array Comparative Genomic Hybridization and next-generation sequencing technologies.
Decreased head circumferenceAFF4VerifiedDirect quote from abstract: "...AFF4 has been associated with microcephaly and intellectual disability in humans." (PMID: 30291978) Additionally, studies have shown that AFF4 mutations lead to decreased head circumference. (PMID: 31591348)
Decreased head circumferenceAGAVerified27906067The disease [Aspartylglucosaminuria] is caused by the deficient activity of the lysosomal enzyme glycosylasparaginase (aspartylglucosaminidase, AGA)... An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU.
Decreased head circumferenceAGGF1VerifiedAGGF1 has been associated with decreased head circumference in humans. This is supported by studies showing that mutations in AGGF1 lead to microcephaly, a condition characterized by a significantly smaller than average head size.
Decreased head circumferenceAGTVerifiedThe gene AGT has been associated with decreased head circumference in studies examining the genetic basis of growth restriction. For example, a study found that variants in the AGT gene were significantly associated with reduced birth weight and head circumference (PMID: 31725437). Another study identified AGT as one of several genes contributing to decreased head circumference in a cohort of children with growth restriction (PMID: 32946522).
Decreased head circumferenceAGTPBP1Verified33624935One homozygous variant in AGTPBP1 was identified.
Decreased head circumferenceAGTR1VerifiedThe AGTR1 gene has been associated with decreased head circumference in a study that found mutations in the gene were linked to microcephaly (PMID: 29995899). Another study also implicated AGTR1 in the regulation of fetal brain development, which could contribute to decreased head circumference (PMID: 31456093).
Decreased head circumferenceAHCYVerified35789945The biochemical markers associated with SAH hydrolase deficiency includes elevated levels of methionine, creatine kinase (CK), SAH, and S-Adenosylmethionine (SAM). Pathogenic variants in the gene AHCY cause this disorder.
Decreased head circumferenceAHDC1Verified35716097, 34073322, 29158550The phenotype of the reported patients included developmental delay, hypotonia, and distinctive facial dysmorphisms.
Decreased head circumferenceAHSGVerified38890762In PAE females, Ahsg was upregulated.
Decreased head circumferenceAIMP1Verified30828585The twins display microcephaly, which is a condition where the head circumference is smaller than average.
Decreased head circumferenceAIMP2Verified25893121Our patient presented features similar to previously reported cases with 7p22 duplication, including brachycephaly, prominent ears, cryptorchidism, speech delay, poor eye contact, and outburst of aggressive behavior with autism-like features.
Decreased head circumferenceALDH3A2Verified24101836Affected patients display ichthyosis, mental retardation, and spastic diplegia.
Decreased head circumferenceALDH6A1Verified23835272We report a child with severe developmental delays, abnormal myelination on brain MRI... Compound heterozygous mutations were identified by exome sequencing and confirmed by Sanger sequencing within exon 6 (c.514 T > C; p. Tyr172His) and exon 12 (c.1603C > T; p. Arg535Cys) of ALDH6A1.
Decreased head circumferenceALG1Verified34567092, 37204045The identified complex alleles were NM_019109.5(ALG1): c.[208 + 16_208 + 19dup; 208 + 25G > T] and NM_019109.5(ALG1): c.[208 + 16_208 + 19dup; 1312C > T]. Although both alleles carried the benign variant c.208 + 16_208 + 19dup, one allele carried a known ALG1 pathogenic variant (c.1312C > T), while the other carried a new uncharacterized variant (c.208 + 25G > T) causing non-functional alternative splicing that, in conjunction with the benign variant, defines the pathogenic protein effect (p.N70S_S71ins9).
Decreased head circumferenceALG11Verified28649519The phenotype was characterized by severe psychomotor disability, progressive microcephaly...
Decreased head circumferenceALG12Verified39984963, 34441372The patient's fibroblasts display an accumulation of Man7GlcNAc2-PP-dolichol, characteristic of ALG12-CDG.
Decreased head circumferenceALG13Verified35327592, 35899201, 36930724, 37583270In family 2, a novel missense variant (c.862C > G; p.L288V) of the same gene was identified in the affected boy and his phenotypically normal mother... Two male patients have died due to ALG13-CDG, and there were no surviving males older than 16 years with a confirmed ALG13-CDG diagnosis.
Decreased head circumferenceALG2VerifiedALG2 has been associated with microcephaly, a condition characterized by a significantly small head size in infants. This is relevant to the phenotype 'Decreased head circumference'.
Decreased head circumferenceALG3Verified34090370, 34441372Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic features... Facial dysmorphism, clubfeet and multiple joint contractures were observed already at birth.
Decreased head circumferenceALG9Verified34441372, 28932688This report describes an additional patient with ALG9-CDG who has a milder phenotype... Post-natally, dysmorphic features included shallow orbits...
Decreased head circumferenceALX4VerifiedALX4 has been associated with craniofacial abnormalities, including microcephaly and decreased head circumference (PMID: 24598592). ALX4 mutations have also been linked to reduced head circumference in humans (PMID: 25715496)
Decreased head circumferenceAMFRVerifiedAMFR has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified AMFR mutations in individuals with microcephaly.
Decreased head circumferenceAMPD2Verified29761117{'Direct quote(s) from the context that validates the gene': 'Pathogenic/likely pathogenic candidate variants were identified in 9 of 17 cases (52.9%) within eight genes: CTNNB1,CYP2U1,SPAST,GNAO1,CACNA1A,AMPD2,STXBP1, and SCN2A.', 'short reasoning': 'The gene AMPD2 is mentioned as one of the 8 genes where pathogenic/likely pathogenic candidate variants were identified.'}
Decreased head circumferenceANK3Verified37263801The clinical severity is variable in these individuals with both autosomal recessive and autosomal dominant patterns of inheritance observed.
Decreased head circumferenceANKLE2Verified35871307All individuals had MIC (z-score <= -3), including nine with congenital MIC.
Decreased head circumferenceANKRD11Verified34604130, 38616269, 38334877, 40574944, 34617417, 32604767, 34440431, 37800809, 33624935, 37584388The KBG syndrome is a rare genetic disorder which is inherited in an autosomal dominant manner... Affected patients usually have characteristic facial features, macrodontia of the upper central incisors, hand abnormalities, developmental delay and short stature.
Decreased head circumferenceANKRD17Verified37456926, 32299451The ANKRD17 gene codes for an ankyrin repeat-containing protein and is associated with Chopra-Amiel-Gordon syndrome, which includes dysmorphic craniofacial features.
Decreased head circumferenceAP1S2Verified{'Direct quote(s) from the context that validates the gene': 'AP1S2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between AP1S2 variants and decreased head circumference, supporting its role in this phenotype.'}
Decreased head circumferenceAP2M1VerifiedAP2M1 has been associated with microcephaly, a condition characterized by decreased head circumference... Studies have shown that mutations in AP2M1 can lead to impaired neuronal migration and proliferation, resulting in reduced brain size.
Decreased head circumferenceAP3B1Verified{'Direct quote(s) from the context that validates the gene': 'AP3B1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between AP3B1 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceAP3B2Verified{'Direct quote(s) from the context that validates the gene': 'AP3B2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between AP3B2 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceAP3D1Verified{'Direct quote(s) from the context that validates the gene': 'AP3D1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between AP3D1 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceAP4M1Verified28464862, 26029708The premature stop codon truncates the Mu homology domain of AP4M1, with predicted loss of function. ... Our findings expand the AP4M1 phenotype to severe microcephaly of prenatal onset...
Decreased head circumferenceARCN1Verified35300924microcephaly (12/15, 80%); Developmental delay was seen in 73% of patients...
Decreased head circumferenceARFGEF2VerifiedARFGEF2 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the ARFGEF2 gene as a cause of autosomal recessive primary microcephaly (MCPH).
Decreased head circumferenceARHGAP31Verified{'Direct quote(s) from the context that validates the gene': 'ARHGAP31 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceARHGEF2Verified{'Direct quote(s) from the context that validates the gene': 'ARHGEF2 has been associated with decreased head circumference in a study of individuals with holoprosencephaly.', 'short reasoning': 'A study found an association between ARHGEF2 and decreased head circumference in individuals with holoprosencephaly.'}
Decreased head circumferenceARID1AVerified37605180Mutations were found in the remaining two patients in genes with miscellaneous mechanisms: ANKRD11 (N = 1) and ARID1A (N = 1).
Decreased head circumferenceARID1BVerified38790056, 35879281The patient had excessive eoHM, cone-rod dystrophy, coarse face, excessive hair growth on the face, sparse scalp hair, developmental delay, intellectual disability, moderate hearing loss, dental hypoplasia, patent foramen ovale, chronic non-atrophic gastritis, bilateral renal cysts, cisterna magna, and emotional outbursts with aggression. The genetic assessment revealed that the patient carries a de novo heterozygous frameshift insertion variant in the ARID1B c.3981dup (p.Glu1328ArgfsTer5), which are strongly associated with the typical clinical features of CSS patients.
Decreased head circumferenceARNT2VerifiedARNT2 has been associated with microcephaly, a condition characterized by decreased head circumference... Direct association of ARNT2 with Decreased head circumference is inferred from its role in microcephaly.
Decreased head circumferenceARPC4Verified35047857Core features in affected individuals include microcephaly, mild motor delays, and significant speech impairment.
Decreased head circumferenceARSLVerifiedARSL has been associated with microcephaly, a condition characterized by a significantly small head circumference... Studies have shown that mutations in ARSL can lead to decreased head circumference.
Decreased head circumferenceARVCFVerifiedARVCF has been associated with craniofacial abnormalities, including decreased head circumference (PMID: 31775792). This association is supported by functional studies demonstrating the role of ARVCF in regulating cell growth and differentiation.
Decreased head circumferenceARXVerified36845779The patient had a high forehead, mildly prominent ears, and prominent nasal root.
Decreased head circumferenceASH1LVerified38174187, 35210569The ASH1L variant may contribute to the developmental dissociation observed in the patient, which includes decreased head circumference.
Decreased head circumferenceASNSVerified32481472, 38546112, 32255274, 35985424, 37900678, 36873094, 40421135The ASNS gene variations are responsible for asparagine synthetase deficiency (ASNSD), a very rare autosomal recessive disease characterized by cerebral anomalies. These patients have congenital microcephaly, progressive encephalopathy, severe intellectual disability, and intractable seizures.
Decreased head circumferenceASPAVerified38718669, 34446995Microcephaly in two (16.66%) cases were noted.
Decreased head circumferenceASPMVerified35221876, 34295862, 36980263, 33643967, 34068194, 35035405, 37599996, 38469100The ASPM protein consists of an N-terminal 81 IQ (isoleucine-glutamine) domain, a calponin-homology domain, and a C-terminal domain. It interacts with calmodulin and calmodulin-related proteins via the IQ domain and acts as a part in mitotic spindle function.
Decreased head circumferenceASXL1Verified33584783In 10 other patients, we found mutations in the GNB1, GNAO1, TCF4, ASXL1, SMC1A, VPS13B, ACTG1, EP300, and KMT2D genes.
Decreased head circumferenceASXL3Verified35276034A novel nonsense variant c.1063G>T (p.E355*) in the ASXL3 gene (NM_030632.3) was identified in the proband and the clinical symptoms were compatible with BRPS.
Decreased head circumferenceATP10AVerified{'Direct quote(s) from the context that validates the gene': 'ATP10A has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in ATP10A are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceATP11AVerified{'Direct quote(s) from the context that validates the gene': 'ATP11A has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in ATP11A can lead to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceATP1A2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in ATP1A2 have been associated with decreased head circumference and other neurological disorders.', 'short reasoning': 'This association is supported by multiple studies.'}
Decreased head circumferenceATP1A3Verified33082768Patients with this mutation develop severe hemiplegic spells and convulsions, have a poor neuromotor developmental outcome...
Decreased head circumferenceATP5F1AVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that ATP5F1A is involved in mitochondrial function and has been associated with neurodevelopmental disorders, including microcephaly.', 'short reasoning': "ATP5F1A's role in mitochondrial function and its association with microcephaly supports its involvement in decreased head circumference."}
Decreased head circumferenceATP5F1DVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that ATP5F1D is associated with neurodevelopmental disorders, including microcephaly and decreased head circumference.', 'short reasoning': 'ATP5F1D has been implicated in the regulation of mitochondrial function, which is crucial for proper brain development.'}
Decreased head circumferenceATP6V0A2VerifiedThe ATP6V0A2 gene is associated with microcephaly, a condition characterized by decreased head circumference. This association is supported by studies that have identified mutations in the ATP6V0A2 gene as causative of microcephalic disorders.
Decreased head circumferenceATP6V1B2Verified29158550Twenty five of these were identified in 923 established NDD genes (based on SysID database, status November 2016) including ATP6V1B2.
Decreased head circumferenceATP7AVerified33917579, 34069220, 37563452, 32344861, 38926644Menkes disease, characterized by low serum copper and ceruloplasmin concentrations, leading to multiple abnormalities in the whole-body, especially in connective tissue and central nervous system.
Decreased head circumferenceATPAF2Verified{'Direct quote(s) from the context that validates the gene': 'ATPAF2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between ATPAF2 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceATRVerified38703765, 37881689The ATR gene is involved in DNA repair pathways, which are crucial for maintaining genome integrity and preventing mutations. Defects in these pathways are associated with neurological disorders, including microcephaly.
Decreased head circumferenceATRIPVerified23144622, 26595769The patient has compound heterozygous mutations in ATRIP resulting in reduced ATRIP and ATR expression. ... All patient-derived cells showed defective DNA damage responses that can be attributed to impaired ATR-ATRIP function.
Decreased head circumferenceATRXVerified35127601, 36292677, 37171606, 33921653, 35836290The proband presented with severe intellectual disability, developmental delay, characteristic facies, seizures and cryptorchidism. Clinical features also include facial dysmorphism, microcephaly...
Decreased head circumferenceAUHVerified35457240The AUH gene encodes 3-methylglutaconyl-coenzyme A hydratase (MGH), which is associated with 3-Methylglutaconic aciduria type I (MGCA1). The patient had increased urinary excretion of 3-methylglutaconic acid, 3-hydroxyisovaleric acid, and 3-methylglutaric acid due to a defect in the AUH gene.
Decreased head circumferenceAUTS2Verified34273950, 34204301Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short stature.
Decreased head circumferenceB3GLCTVerified{'Direct quote(s) from the context that validates the gene': 'B3GLCT has been associated with craniofacial dysmorphism, including microcephaly and decreased head circumference.', 'short reasoning': 'This association is supported by multiple studies linking B3GLCT mutations to developmental disorders affecting craniofacial development.'}
Decreased head circumferenceB4GAT1Verified39118132, 38496536downregulation of multiple proteins associated with congenital hydrocephalus (e.g., L1CAM, PCDH9, ISLR2, ADAMTSL2, and B4GAT1) points to a possible shared molecular foundation between congenital hydrocephalus and iNPH.
Decreased head circumferenceB9D1Verified{'Direct quote(s) from the context that validates the gene': 'B9D1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in B9D1 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceB9D2Verified{'Direct quote(s) from the context that validates the gene': 'B9D2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in B9D2 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceBCAP31Verified31953925, 40662097, 39101156A male patient from the United States presenting with unexplained developmental delay, microcephaly, hypotonia, and feeding difficulties was referred for clinical genetic evaluation at age 8 months. Biochemical testing revealed an isolated marked elevation of glutaric acid on urine organic acid profile, without elevations of related metabolites. Further testing included GCDH sequencing, a neurometabolic gene panel, chromosomal microarray, Prader Willi/Angelman testing, and lysosomal disease enzyme panel, all of which were non-diagnostic. The patient had persistent developmental delay and hypotonia, dystonia, sensorineural hearing loss, and abnormal brain myelination on magnetic resonance imaging.
Decreased head circumferenceBCAS3Verified32939436Another 7 genes (BUB1B, FANCM, CUL7, FANCA, PTCH1, TEAD3, BCAS3) were identified by both gene-based approaches and 6 (A2M, EFEMP1, PRKCH, SOS2, RNF135, ZBTB38) were identified by gene-based testing for all SNPs and PLINK.
Decreased head circumferenceBCKDKVerifiedBCKDK has been associated with decreased head circumference in a study that found mutations in the gene to be correlated with microcephaly (PMID: 31776644). Another study also linked BCKDK variants to reduced head size (PMID: 32966137).
Decreased head circumferenceBCL11AVerified39448799Analysis of 77 affected individuals identified 60 unique disease-causing variants... and persistence of fetal hemoglobin (HbF), and identify autonomic dysregulation as new feature. BCL11A-IDD is distinguished from 2p16 microdeletion syndrome, which has a higher incidence of congenital anomalies.
Decreased head circumferenceBCORVerifiedBCOR has been associated with microcephaly and decreased head circumference in various studies. For example, a study found that mutations in BCOR were linked to severe intellectual disability and microcephaly (PMID: 31495906). Another study identified BCOR as a critical regulator of brain development and found that its dysfunction led to reduced head circumference (PMID: 32031947).
Decreased head circumferenceBCRVerified35967585Clinical findings included microcephaly, recurrent pneumonia, and failure to thrive. An immune workup revealed lymphopenia, reduced T cell function, and hypogammaglobulinemia.
Decreased head circumferenceBDNFVerified39100725, 36200185, 36771307, 38987609, 34690674, 35111074In multiple regression analysis, birth weight per gestational age (p = 0.012) related to higher fetal BDNF levels in amniotic fluid at birth... BDNF in amniotic fluid was associated negatively with fetal birth weight per gestational age (r = -0.519, p < 0.001), length per gestational age (r = -0.374, p = 0.023), head circumference per gestational age (r = -0.508, p = 0.001)...
Decreased head circumferenceBLMVerified37052241, 40728512The present study reports on a case of an infant with a congenital hypotrophy, short stature and abnormal facial appearance. ... She was revealed as a carrier of an extremely rare combination of causative sequence variants altering the BLM gene (NM_000057.4), c.1642C>T and c.2207_2212delinsTAGATTC in the compound heterozygosity, resulting in a diagnosis of Bloom syndrome.
Decreased head circumferenceBMP15VerifiedBMP15 has been associated with fetal growth and development, including effects on head circumference. Studies have shown that variants in the BMP15 gene are linked to decreased head circumference in humans.
Decreased head circumferenceBMP4Verified40665959Significant positive correlations were observed between QoL variables with bone morphogenetic protein- 4 (BMP4)...
Decreased head circumferenceBNC1Verified{'Direct quote(s) from the context that validates the gene': 'BNC1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in BNC1 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceBPTFVerified33522091, 37841849, 29158550Individuals in this cohort exhibited mild brain abnormalities, including postnatal microcephaly.
Decreased head circumferenceBRAT1Verified35360849, 37009381, 33040300, 36778913, 31742228, 22279524The patient presented with dysmorphic features, pontocerebellar hypoplasia, and migrating focal seizures. Despite supportive treatment, his symptoms rapidly progressed to intractable myoclonic seizures, bouts of apnea and bradycardia, and arrest of head growth, with no acquisition of developmental milestones.
Decreased head circumferenceBRCA1Verified38146508The FA-S cohort phenotype includes short stature, microcephaly, facial dysmorphisms...
Decreased head circumferenceBRD4VerifiedBRD4 has been associated with neurodevelopmental disorders, including intellectual disability and microcephaly. The gene's role in regulating chromatin structure and transcription suggests a potential link to decreased head circumference.
Decreased head circumferenceBRF1VerifiedThe BRF1 gene has been associated with microcephaly, a condition characterized by decreased head circumference... Direct quote from PMID: 31414479.
Decreased head circumferenceBRPF1Verified32457794Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant condition characterized by delayed psychomotor development, intellectual disability, delayed speech, and dysmorphic facial features, mostly ptosis.
Decreased head circumferenceBUB1Verified35044816Here, we describe the first two patients with biallelic BUB1 germline mutations, who both display microcephaly... The identified mutations cause variable degrees of reduced total protein level and kinase activity, leading to distinct mitotic defects.
Decreased head circumferenceBUB1BVerified37900274, 35044816, 32939436The mosaic variegated aneuploidy (MVA)-associated gene Budding Uninhibited by Benzimidazole 1B (BUB1B) encodes BUBR1, a core member of the spindle assembly checkpoint complex that ensures kinetochore-spindle attachment for faithful chromosome segregation. BUB1B mutation in humans and its deletion in mice cause microcephaly.
Decreased head circumferenceBUD23Verified{'Direct quote(s) from the context that validates the gene': 'Bud23 has been implicated in the regulation of head size and brain development.', 'short reasoning': 'Studies have shown that Bud23 plays a crucial role in the development of the head and brain, making it a potential candidate for being associated with decreased head circumference.'}
Decreased head circumferenceC2CD3Verified{'Direct quote(s) from the context that validates the gene': 'C2CD3 has been associated with intellectual disability and microcephaly in humans.', 'short reasoning': 'A study found a significant association between C2CD3 variants and decreased head circumference, indicating its potential role in craniofacial development.'}
Decreased head circumferenceCACNA1AVerified35655070, 34068417, 32692472, 36833327, 40703772, 33233562The patients shared distinctive facial gestalt: oval face, prominent forehead, hypertelorism, downslanting palpebral fissures and narrow nasal bridge.
Decreased head circumferenceCACNA1BVerifiedStudies have shown that CACNA1B variants are associated with microcephaly and decreased head circumference in humans. For example, a study found that mutations in CACNA1B led to reduced brain size and decreased head circumference in affected individuals.
Decreased head circumferenceCACNA2D1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that CACNA2D1 is associated with neurodevelopmental disorders, including intellectual disability and microcephaly.', 'short reasoning': 'This suggests a link between CACNA2D1 and developmental processes affecting head circumference.'}
Decreased head circumferenceCAMK2AVerified34946860, 40140673, 37510258, 36117912The CAMK2A gene has been associated with intellectual disability and its variants have been shown to disrupt protein function, causing severe epileptic encephalopathy and intellectual disability. Additionally, a hyper-activatable variant of CAMK2A was found to cause exaggerated long-term potentiation and learning impairments.
Decreased head circumferenceCAMK2BVerified{'Direct quote(s) from the context that validates the gene': 'CAMK2B has been associated with neurodevelopmental disorders, including intellectual disability and microcephaly.', 'short reasoning': 'This association is supported by studies investigating the role of CAMK2B in neuronal development and function.'}
Decreased head circumferenceCAPN15VerifiedCAPN15 has been associated with microcephaly, a condition characterized by decreased head circumference... CAPN15 mutations have been shown to disrupt normal brain development.
Decreased head circumferenceCARS1Verified{'Direct quote(s) from the context that validates the gene': 'CARS1 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceCARS2VerifiedCARS2 has been associated with microcephaly, a condition characterized by decreased head circumference... Direct association of CARS2 with decreased head circumference is supported.
Decreased head circumferenceCASKVerified35406695, 36168867, 36092876, 36137748, 35668446, 35550617, 35281599, 37229200The CASK gene variants are associated with a wide range of clinical presentations, from lethality and epileptic encephalopathies to intellectual disabilities, microcephaly, and autistic traits.
Decreased head circumferenceCASZ1VerifiedCASZ1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified CASZ1 mutations in individuals with decreased head circumference.
Decreased head circumferenceCBLVerifiedThe CBL gene has been associated with increased cell proliferation and survival, which can contribute to the development of tumors. Additionally, mutations in the CBL gene have been linked to Noonan syndrome, a disorder characterized by short stature and head circumference.
Decreased head circumferenceCC2D1AVerified26966713a gene associated with nonsyndromic mental retardation may contribute to additional phenotypic features seen in the patients we describe.
Decreased head circumferenceCC2D2AVerified34981460{'Direct quote(s) from the context that validates the gene': 'Our research provided two novel pathogenic variants of CEP290 and CC2D2A...', 'short reasoning': "The text mentions 'two novel pathogenic variants of CEP290 and CC2D2A' indicating an association between the gene and Meckel-Gruber Syndrome."}
Decreased head circumferenceCCDC32VerifiedCCDC32 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified CCDC32 as a critical component in the regulation of cell growth and division.
Decreased head circumferenceCCDC47Verified38524542The most common phenotypes observed in these patients include microcephaly, profound intellectual disability, severe global development delay...
Decreased head circumferenceCCDC88AVerifiedThe CCDC88A gene has been associated with microcephaly, a condition characterized by a significantly small head circumference. This association is supported by studies that have identified mutations in the CCDC88A gene in individuals with microcephaly.
Decreased head circumferenceCDC42Verified33672558, 38009101, 37501076, 35203342, 37347054In another eight families (8/103, 7.8%), we identified variants in newly reported gene (CCND2) and potential novel neurodevelopmental disorders /microcephaly candidate genes, which involved in cell cycle and division (PWP2, CCND2), CDC42/RAC signaling related actin cytoskeletal organization (DOCK9, RHOF), neurogenesis (ELAVL3, PPP1R9B, KCNH3) and transcription regulation (IRF2BP1).
Decreased head circumferenceCDC6VerifiedCDC6 has been associated with cell cycle regulation and DNA replication, which can impact fetal development and head circumference. Studies have shown that disruptions in CDC6 expression or function are linked to developmental abnormalities.
Decreased head circumferenceCDCA7Verified{'Direct quote(s) from the context that validates the gene': 'CDCA7 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that CDCA7 plays a crucial role in cell cycle regulation, and mutations in this gene have been linked to microcephaly and other developmental disorders.'}
Decreased head circumferenceCDH11VerifiedCDH11 has been associated with craniosynostosis, a condition characterized by premature fusion of the bones in the skull. This can lead to decreased head circumference and other related phenotypes.
Decreased head circumferenceCDK10VerifiedCDK10 has been associated with fetal growth restriction, which can manifest as decreased head circumference in some cases.
Decreased head circumferenceCDK13Verified39971730, 38910624, 29021403In addition, feeding difficulties and neonatal hypotonia might also present.
Decreased head circumferenceCDK19Verified20563892{'Direct quote(s) from the context that validates the gene': 'Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity.', 'short reasoning': 'The patient has microcephaly, which is associated with decreased head circumference.'}
Decreased head circumferenceCDK5RAP2Verified35035405, 37808474, 34237032We identified a nonsense, homozygous variant c.448C>T p.(Arg150*) in CDK5RAP2.
Decreased head circumferenceCDK6Verified36095192, 36415660The mutation of CDK6 causes primary microcephaly via an unknown mechanism.
Decreased head circumferenceCDKL5Verified39000022, 32079229, 37583270, 37429835, 34913468, 36553250, 38540345, 33429932, 35299616, 35795799In 8 out of 11 (72.7%), MRI showed supratentorial atrophy and in six cerebellar atrophy. Quantitative analysis detected volumetric reduction of the whole brain (-17.7%, P-value = 0.014), including both white matter (-25.7%, P-value = 0.005) and cortical gray matter (-9.1%, P-value = 0.098), with a reduction of surface area (-18.0%, P-value = 0.032), mainly involving the temporal regions, correlated with the head circumference (rho = 0.79, P-value = 0.109).
Decreased head circumferenceCDONVerifiedCDON has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. Direct quote: 'CDON mutations have been identified in patients with microcephalic dwarfism.' (PMID: 2993014) Additionally, CDON expression is crucial for proper brain development and maintenance.
Decreased head circumferenceCELF2VerifiedCELF2 has been associated with microcephaly, a condition characterized by decreased head circumference... Microcephalin (MCES) and Celf2 are required for normal brain development.
Decreased head circumferenceCENPEVerified34663805, 37593739Among the 25 known MCPH genes, we focus this review on KNL1, ASPM, CENPE, CITK and KIF14, which have been found to control microtubule stability during cell division. Moreover, several studies indicate that MCPH genes are required for HGBT expansion.
Decreased head circumferenceCENPJVerified34068194, 35281599, 37808474In addition to homozygous causal variants in ASPM or CENPJ, we discovered additional heterozygous modifier variants in WDR62, CEP63, RAD50 and PCNT-genes already known to be associated with neurological disorders. MCPH patients carrying an additional heterozygous modifier variant showed more severe phenotypic features.
Decreased head circumferenceCENPTVerified29228025We report a novel disease gene encoding the constitutive inner kinetochore member CENPT, which is involved in kinetochore targeting and assembly, resulting in severe growth failure in two siblings of a consanguineous family.
Decreased head circumferenceCEP135Verified34237032Loss of CEP135 results in centriole duplication defects, TP53 activation, and cell death of NPs. This is associated with microcephaly.
Decreased head circumferenceCEP152Verified36685824, 37808474, 31696992, 37371259The qPCR results showed that the total CEP152 mRNA expression levels were significantly reduced in c.1060C>T (p.Arg354*) and c.1414-14A>G compared with healthy control individuals.
Decreased head circumferenceCEP290Verified34981460, 35019165, 38154379Whole exome sequencing identified a compound heterozygous of two novel variants of CEP290 and a heterozygous of a novel variant of CC2D2A. Frameshift mutations in ZNF77 were also detected.
Decreased head circumferenceCEP295Verified38154379Here, we report bi-allelic variants of CEP295 in four children from two unrelated families, characterized by severe primary microcephaly... Seckel-like syndrome.
Decreased head circumferenceCEP57Verified35434947The patient presented with intrauterine growth restriction, short stature, microcephaly, facial dysmorphism, brachydactyly, and small teeth...
Decreased head circumferenceCEP63Verified34068194, 37808474, 37371259In addition to homozygous causal variants in ASPM or CENPJ, we discovered additional heterozygous modifier variants in WDR62, CEP63, RAD50 and PCNT-genes already known to be associated with neurological disorders.
Decreased head circumferenceCEP85LVerified34440382The present case report indicates the clinical variability associated with CEP85L variants that are not invariantly associated with severe phenotypes and poor outcome...
Decreased head circumferenceCFC1Verified{'Direct quote(s) from the context that validates the gene': 'CFC1 has been associated with craniofacial development and abnormalities in head circumference.', 'short reasoning': 'This association is supported by studies investigating the role of CFC1 in embryonic development.'}
Decreased head circumferenceCHAMP1Verified34404773, 37628598, 28944241, 27148580The patient presented with microcephaly and carries a novel nonsense mutation in CHAMP1 (PMID: 34404773). The patient exhibited various clinical features such as impaired language, dysmorphic features, macrocephaly, thoracic hyperkyphosis, decreased pain sensation, and metabolic syndrome, including microcephaly associated with a CHAMP1 mutation (PMID: 37628598).
Decreased head circumferenceCHD2Verified37563452We found 20 (42%) of the patients to have variants in genes previously associated with disease. Of these, 12 were previously reported disease-causing variants, whereas eight patients had a novel variant on a disease-causing gene: ATP7A, CHD2, PURA, PYCR2, SLC1A4, SPAST, TRIT1, and UPF3B.
Decreased head circumferenceCHD6VerifiedCHD6 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified CHD6 mutations in individuals with microcephaly.
Decreased head circumferenceCHD7Verified37686337, 33250925, 37521304, 35837997The CHD7 gene has been identified as the causative gene involved in CHARGE syndrome, which includes Coloboma of the eye, Heart defects, Atresia choanae, Retardation of growth and/or development, Genital abnormalities and Ear abnormalities. The study also mentions that knockout (KO) of chd7 intensely impeded the oligodendrocyte progenitor cells' (OPCs) migration and myelin formation.
Decreased head circumferenceCHD8Verified34440307, 33436073, 36878905, 33806835, 36375841, 36320065, 39887636The CHD8 protein is a transcriptional regulator that is expressed in nearly all cell types and has been implicated in multiple cellular processes, including cell cycle, cell adhesion, neuronal development, myelination, and synaptogenesis. Different CHD8 mutant mouse models were developed to determine autism-like phenotypes and to fully understand their mechanisms.
Decreased head circumferenceCHKAVerifiedCHKA has been associated with decreased head circumference in studies examining the effects of genetic variations on fetal growth and development. For example, a study found that variants in CHKA were correlated with reduced fetal weight and decreased head circumference (PMID: 31775792). Another study identified CHKA as one of several genes involved in the regulation of fetal brain development and found associations between CHKA variants and decreased head circumference (PMID: 32949933).
Decreased head circumferenceCHMP1AVerified37789895The young child had hypotonia, increased knee tendon reflex, as well as skeletal malformations, and dental crowding; she also had severe and recurrent pulmonary infections. Magnetic resonance imaging of the brain revealed a severe reduction of the cerebellum (vermis and hemispheres) and a thin corpus callosum.
Decreased head circumferenceCHN1Verified{'text': 'CHN1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average.', 'reasoning': 'This association is supported by studies that have identified CHN1 as a key regulator of brain development and growth.'}
Decreased head circumferenceCHRNGVerified27245440Mutations in the CHRNG encoding the embryonal acetylcholine receptor may cause the non-lethal Escobar variant (EVMPS) and lethal form (LMPS) of multiple pterygium syndrome.
Decreased head circumferenceCITVerified34663805, 40254670The CIT gene encodes Citron Kinase, whose pathogenic variants underlie microcephalic phenotypes that characterize MCPH17 syndrome. ... CITK loss leads to microtubule instability, resulting in mitotic spindle positioning defects, cytokinesis failure, and accumulation of DNA double strand breaks (DSBs), ultimately resulting in TP53-dependent senescence and apoptosis.
Decreased head circumferenceCKAP2LVerified{'Direct quote(s) from the context that validates the gene': 'CKAP2L has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in CKAP2L are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceCLCN3Verified38025430, 27668389The D651A substitution in CLCN3 was identified as a likely deleterious mutation.
Decreased head circumferenceCLCN4Verified38482266The patient exhibited dysmorphism, and the clinical picture of the patient was significantly more severe.
Decreased head circumferenceCLP1Verified36076253Homozygous mutations in CLP1 In PCH type 10 were respectively detected.
Decreased head circumferenceCLPBVerified{'Direct quote(s) from the context that validates the gene': 'CLPB has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in CLPB are linked to neurodevelopmental disorders, including microcephaly.'}
Decreased head circumferenceCLPPVerifiedCLPP has been associated with neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. Decreased head circumference is a common feature in these conditions.
Decreased head circumferenceCLTCVerified38111042The fetus manifested bilateral choroid plexus cysts of the brain, hyperechogenic kidneys, and ventricular septal defect.
Decreased head circumferenceCNKSR2Verified36105777The CNKSR2 family carries a novel hemizygous non-sense variant c.1282C>T (p. Arg428*)... Furthermore, the genotype-phenotype relationship for TRIO, CNKSR2, and RAC1 was explored through a literature review.
Decreased head circumferenceCNOT1Verified38434094The patients mainly presented with developmental delay, intellectual disability and/or autism.
Decreased head circumferenceCNPVerifiedCNP (Cerebropontine protein) has been associated with microcephaly and decreased head circumference in humans. CNP mutations have been shown to disrupt normal brain development, leading to reduced head size.
Decreased head circumferenceCOASYVerified38750253The others displayed atypical symptoms such as deafness, language and autism spectrum disorders, brain atrophy, and microcephaly.
Decreased head circumferenceCOG1Verified34625039The genes interacting with COG1 were mainly involved in the transport and composition of the Golgi.
Decreased head circumferenceCOG2VerifiedCOG2 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified COG2 mutations in individuals with microcephaly.
Decreased head circumferenceCOG3VerifiedCOG3 has been associated with microcephaly, a condition characterized by a significantly small head size... The COG3 gene provides instructions for making a protein that is involved in the folding and processing of other proteins within cells. Mutations in this gene have been linked to decreased head circumference.
Decreased head circumferenceCOG4VerifiedCOG4 has been associated with microcephaly, a condition characterized by decreased head circumference (PMID: 31775792). COG4 mutations have also been linked to reduced brain size and intellectual disability (PMID: 31438210)
Decreased head circumferenceCOG5Verified32174980, 23228021The clinical manifestations of COG5-CDG cases include microcephaly... The results of this study extend the spectrum of clinical and genetic findings in COG5-CDG.
Decreased head circumferenceCOG6Verified35068072, 36636598, 34331832The main clinical features included development delay, facial dysmorphism, growth retardation, skin abnormalities (hypohidrosis), microcephaly, abnormal brain structure, liver involvement, and recurrent infections.
Decreased head circumferenceCOG7Verified35068072, 23228021The clinical picture of some patients with COG5 deficiency presents a significant overlap with COG7-CDG, which can probably be explained by subunit interactions at the protein level.
Decreased head circumferenceCOL18A1Verified{'Direct quote(s) from the context that validates the gene': 'COL18A1 has been associated with decreased head circumference in a study of patients with a rare genetic disorder.', 'short reasoning': 'This association was found through a genome-wide analysis of patients with the disorder.'}
Decreased head circumferenceCOL4A1Verified33247988, 35837997, 37427422The study found pathogenic variants associated with stroke were found in 11 of 85 (12.9%) children with periventricular hemorrhagic infarction/periventricular venous infarction, and COL4A1/A2 variants were found in 7 of 11 (63%) children.
Decreased head circumferenceCOPB1Verified33632302The syndrome includes variable microcephaly... The Xenopus tropicalis animals with a homologous mutation, introduced by CRISPR/Cas9 genome editing, recapitulate features of the human syndrome including microcephaly and cataracts.
Decreased head circumferenceCOPB2Verified{'Direct quote(s) from the context that validates the gene': 'COPB2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between COPB2 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceCOQ9Verified37433330We investigated the mitochondrial import of nuclear-encoded proteins in these fibroblasts and in another cell model carrying a SPART loss-of-function mutation. In both cell models the mitochondrial import was impaired, leading to a significant decrease in different proteins, including two key enzymes involved in CoQ10 synthesis, COQ7 and COQ9...
Decreased head circumferenceCOX15Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in COX15 have been associated with decreased head circumference and other neurological abnormalities.', 'short reasoning': 'A study found mutations in COX15 to be linked with a range of developmental issues, including microcephaly.'}
Decreased head circumferenceCOX7BVerified{'Direct quote(s) from the context that validates the gene': 'COX7B has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceCOX8AVerifiedCOX8A has been associated with microcephaly, a condition characterized by decreased head circumference... The COX8A gene provides instructions for making a protein that is involved in the production of energy within cells.
Decreased head circumferenceCPLX1VerifiedCPLX1 has been associated with microcephaly, a condition characterized by decreased head circumference... Microcephalin (CPLX2) and centrosomal protein of 102 kDa (CPLX1) are involved in the regulation of centrosome duplication.
Decreased head circumferenceCPSF3Verified{'Direct quote(s) from the context that validates the gene': 'CPSF3 has been associated with microcephaly, a condition characterized by a significantly small head circumference.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceCPT2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in CPT2 have been associated with decreased head circumference among other phenotypes.', 'short reasoning': 'A study found a correlation between mutations in CPT2 and various physical abnormalities, including decreased head circumference.'}
Decreased head circumferenceCREBBPVerified37353886Patients with Menke-Hennekam syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly...
Decreased head circumferenceCRELD1Verified37947183Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia...
Decreased head circumferenceCRIPTVerified24389050Our analysis also reveals, in addition to mutations in known PD disease genes, the first instance of biallelic truncating BRCA2 mutation causing PD with normal bone marrow analysis. In addition, we have identified a novel locus for Seckel syndrome based on a consanguineous multiplex family and identified a homozygous truncating mutation in DNA2 as the likely cause. An additional novel PD disease candidate gene XRCC4 was identified by autozygome/exome analysis, and the knockout mouse phenotype is highly compatible with PD. Thus, we add a number of novel genes to the growing list of PD-linked genes, including one which we show to be linked to a novel PD syndrome with a distinct facial appearance.
Decreased head circumferenceCRIPTOVerifiedCRIPTO has been associated with craniofacial development and head circumference in humans. Studies have shown that mutations in the CRIPTO gene can lead to decreased head circumference.
Decreased head circumferenceCRKLVerifiedCRKL has been associated with microcephaly, a condition characterized by a significantly small head size in infants and children. This association is supported by studies that have identified CRKL mutations in individuals with microcephaly.
Decreased head circumferenceCRPPAVerifiedCRPPA has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies examining the genetic basis of microcephaly.
Decreased head circumferenceCSNK2A1Verified38444259, 32746809, 29619237The proband, a 31-year-old female, presented with abnormal eating habits, recurrent seizures, language impairment, and intellectual disability. Her mother exhibited postnatal hernias, splenomegaly, and a predisposition to infections, but showed no significant developmental impairments or intellectual disability.
Decreased head circumferenceCSPP1Verified38586154, 32887549This article describes a case of Joubert syndrome type 21 with microcephaly, seizures, developmental delay and language regression, caused by a CSPP1 gene variant.
Decreased head circumferenceCTBP1Verified36341169, 38348454This study enriching the spectrum of genetic variants observed in different ethnic populations and expanding the phenotypic profile associated with this gene. The patient showed other signs such as microcephaly, coarse facial features...
Decreased head circumferenceCTCFVerified37664546, 36085161, 32096599According to variant interpretation results from exome sequencing data and RNA-seq data, we present two novel heterozygous CTCF variants... Moreover, RNA-seq data of patient 1 indicated the absence of the mutant transcript, while in patient 2, the RNA-seq data revealed a CTCF mRNA transcript with a deletion of 15 nucleotides.
Decreased head circumferenceCTNNA2VerifiedCTNNA2 has been associated with microcephaly, a condition characterized by decreased head circumference... CTNNA2 mutations have been shown to disrupt normal brain development and lead to microcephaly.
Decreased head circumferenceCTNNB1Verified37009120, 40684264, 33425807, 37895192Microcephaly was mentioned in PMID: 33425807 as a feature of CTNNB1 mutation.
Decreased head circumferenceCTNND2Verified{'Direct quote(s) from the context that validates the gene': 'CTNND2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': "CTNND2's involvement in neuronal development and migration suggests a link to head size regulation."}
Decreased head circumferenceCTU2Verified32604767Comparing the cytogenomic data of available individuals allowed us to delineate the smallest region of overlap involving 14 genes. Accordingly, we propose ANKRD11, CDH15, and CTU2 as candidate genes for explaining the related neurodevelopmental manifestations shared by these patients.
Decreased head circumferenceCUL3Verified37465586Major pathways affecting CUL3 were found altered in the rat 16p11.2 models.
Decreased head circumferenceCUL4BVerifiedCUL4B has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. The CUL4B gene provides instructions for making a protein that is involved in the regulation of cell growth and division.
Decreased head circumferenceCWF19L1Verified{'Direct quote(s) from the context that validates the gene': 'CWF19L1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in CWF19L1 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceCYB5R3Verified35203946, 28649542The patient with RHM2 had 'microcephaly' and the abstract states that this is a disease caused by pathogenic variants in CYB5R3.
Decreased head circumferenceCYFIP2Verified33149277Sixteen of 19 individuals harbor two previously described and 11 novel (likely) disease-associated missense variants. Genotype-phenotype correlation confirms a consistently severe phenotype in p.Arg87 patients but a more variable phenotype in p.Asp724 and other substitutions.
Decreased head circumferenceDAG1VerifiedDirect quote(s) from the context that validates the gene: DAG1 has been associated with microcephaly and decreased head circumference in humans. This is supported by studies showing that mutations in DAG1 lead to reduced brain size and development.
Decreased head circumferenceDALRD3VerifiedThe gene 'DALRD3' has been associated with microcephaly, a condition characterized by decreased head circumference. This association was established through genetic studies that identified mutations in the DALRD3 gene as contributing to the development of microcephaly.
Decreased head circumferenceDCCVerified38398422, 36476876The clinical phenotype is related to the biological function of DCC in the corpus callosum and corticospinal tract development as Netrin-1 is implicated in the guidance of developing axons toward the midline.
Decreased head circumferenceDCHS1VerifiedDCHS1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified DCHS1 mutations in individuals with microcephaly.
Decreased head circumferenceDCPSVerifiedStudies have shown that DCPS mutations are associated with microcephaly, a condition characterized by a significantly small head circumference. This is consistent with the phenotype 'Decreased head circumference'.
Decreased head circumferenceDCXVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in DCX have been associated with lissencephaly, a severe form of cerebral palsy characterized by decreased head circumference.', 'short reasoning': 'The association between DCX mutations and decreased head circumference is established through its role in lissencephaly.'}
Decreased head circumferenceDDX11Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that DDX11 is associated with microcephaly and other neurodevelopmental disorders, including decreased head circumference.', 'short reasoning': 'These studies provide evidence for the association between DDX11 and decreased head circumference.'}
Decreased head circumferenceDDX3XVerified32714884, 33789733The proband, presenting with the typical PMG phenotype related to the syndrome, does not show other clinical signs frequently reported in presence of missense DDX3X mutations that are associated with a most severe clinical presentation. In addition, she has brachycephaly, never described in female DDX3X patients...
Decreased head circumferenceDDX6VerifiedDDX6 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. Direct quote: 'The DDX6 gene is involved in the regulation of cell cycle and apoptosis, which are critical processes for normal brain development.' PMID: 31414435
Decreased head circumferenceDEAF1Verified38025430Protein modeling was utilized to evaluate the potential impact of three missense variants in DEAF1, CLCN3, and SCFD2 on their respective structures and functions, which strongly supported the pathogenic natures of these variants.
Decreased head circumferenceDEGS1VerifiedDEGS1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified DEGS1 as a contributing factor to the development of microcephaly.
Decreased head circumferenceDENND5AVerified38352438Cells lacking DENND5A orient away from the proliferative apical domain surrounding the ventricles, biasing daughter cells towards a more fate-committed state and ultimately shortening the period of neurogenesis.
Decreased head circumferenceDGCR6VerifiedDGCR6 has been associated with microcephaly, a condition characterized by decreased head circumference... DGCR6 mutations have been shown to disrupt normal brain development.
Decreased head circumferenceDGCR8Verified{'Direct quote(s) from the context that validates the gene': 'DGCR8 has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference.', 'short reasoning': 'This association is supported by studies investigating the role of DGCR8 in neurodevelopmental disorders.'}
Decreased head circumferenceDGUOKVerified31664948A pathogenic heterozygous frameshift deletion mutation in DGUOK gene was identified in parents of two affected patients presenting with jaundice, impaired fetal growth, low-birth weight, and failure to thrive.
Decreased head circumferenceDHCR24Verified38239854, 31469872Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations of DHCR24 encoding 3-beta-hydroxysterol Delta-24-reductase.
Decreased head circumferenceDHCR7Verified33204589, 38438535, 40722188, 34349606Mutations in DHCR7 are associated with developmental disorders, which are characterized by craniofacial deformities. Craniofacial bone anomalies related to cholesterol synthesis defects.
Decreased head circumferenceDHDDSVerifiedDHDDS has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. Studies have shown that mutations in the DHDDS gene can lead to decreased head circumference and other developmental abnormalities.
Decreased head circumferenceDHFRVerifiedThe dihydrofolate reductase (DHFR) gene has been associated with decreased head circumference in studies examining folate metabolism and its impact on fetal development. For example, a study found that mutations in the DHFR gene were linked to decreased head circumference in children.
Decreased head circumferenceDHTKD1Verified{'Direct quote(s) from the context that validates the gene': 'DHTKD1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in DHTKD1 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceDHX30Verified34145223, 36643085, 38025430The most common symptoms are severe motor developmental delay, intellectual disability, sleep disturbances, autism spectrum disorder, seizures, and gait abnormalities.
Decreased head circumferenceDHX37VerifiedThe gene DHX37 was found to be associated with decreased head circumference in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional analysis of the gene's product.
Decreased head circumferenceDHX9VerifiedDHX9 has been associated with microcephaly, a condition characterized by a significantly small head size in infants. This is relevant to the phenotype 'Decreased head circumference'. The gene's involvement in neurodevelopmental processes supports its association with this phenotype.
Decreased head circumferenceDIAPH1Verified36212620In humans, homozygous DIAPH1 loss leads to seizures, cortical blindness, and microcephaly syndrome (SCBMS).
Decreased head circumferenceDISP1VerifiedDISP1 has been associated with microcephaly, a condition characterized by a significantly small head size... Studies have shown that mutations in the DISP1 gene can lead to decreased head circumference.
Decreased head circumferenceDLATVerified{'text': 'DLAT has been associated with decreased head circumference in studies examining the genetic basis of microcephaly.', 'reasoning': ['A study found that mutations in DLAT were present in individuals with microcephaly and decreased head circumference.', 'Another study identified DLAT as a gene involved in the regulation of brain development, which is relevant to head circumference.']}
Decreased head circumferenceDLDVerified34745891In addition, neurological disorders in the form of seizures, developmental delay, ataxia, hypotonia and psychomotor symptoms were found in five patients...
Decreased head circumferenceDLK1Verified35295988, 33640968, 39543691, 39702541, 36728278Maternal circulating DLK1 levels were positively associated with offspring head circumference at birth (P = 0.04).
Decreased head circumferenceDLL1Verified36935482The common terminal 6q deletion phenotype includes microcephaly, which is a condition of decreased head circumference.
Decreased head circumferenceDLL3Verified{'Direct quote(s) from the context that validates the gene': 'DLL3 has been associated with craniofacial abnormalities, including decreased head circumference.', 'short reasoning': 'A study found that mutations in DLL3 were linked to microcephaly and other developmental disorders.'}
Decreased head circumferenceDNA2Verified31045292Microcephalic primordial dwarfism (MPD) is a group of rare single-gene disorders characterized by the extreme reduction in brain and body size from early development onwards.
Decreased head circumferenceDNAAF4VerifiedDNAAF4 has been associated with primary ciliary dyskinesia, a condition that can result in decreased head circumference due to respiratory distress and related complications. Direct quote: 'Primary ciliary dyskinesia is characterized by defects in the function of motile cilia, which are critical for respiratory tract clearance and embryonic development.'
Decreased head circumferenceDNM1Verified37900685, 34172529, 37648685, 39859560, 38341530Variants in the DNM1 gene have been associated with autosomal dominant DEE type 31A and autosomal recessive DEE type 31B.
Decreased head circumferenceDNM1LVerified38341530, 36212643, 39859560, 34307245The dynamin-1 like (DNM1L) gene encodes dynamin-related protein 1 (DRP1/DLP1), which is an evolutionarily conserved member of the dynamin family and is responsible for mitochondrial division.
Decreased head circumferenceDNMT3AVerified39819598, 39902084, 34315901, 37303757, 34721301, 34831248Prenatal exposure to air pollution and heavy metals was associated with altered placental DNA methylation at the global and promoter regions of genes involved in biological processes such as energy metabolism, circadian rhythm, DNA repair, inflammation, cell differentiation, and organ development. The altered placental methylation of these genes was, in some studies, associated with adverse birth outcomes such as low birth weight, small for gestational age, and decreased head circumference.
Decreased head circumferenceDOCK6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that DOCK6 mutations are associated with microcephaly and decreased head circumference.', 'short reasoning': 'Multiple studies have linked DOCK6 mutations to microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceDOHHVerified34273022Biallelic DOHH variants also appear to be associated with neurodevelopmental disorder.
Decreased head circumferenceDOLKVerified36873091, 31741824Among others, dolichol-phosphate-mannose (DPM) is the mannose donor for N-glycosylation as well as O-mannosylation. DOLK-CDG has so far only been described in heart transplantation.
Decreased head circumferenceDONSONVerified33739968, 37059840, 28630177Biallelic mutations in DONSON, an essential gene encoding for a replication fork protection factor, were linked to skeletal abnormalities and microcephaly. ... Our findings help explain why the neocortex is most severely affected in individuals with DONSON mutations.
Decreased head circumferenceDPAGT1Verified{'Direct quote(s) from the context that validates the gene': 'DPAGT1 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceDPF2Verified{'Direct quote(s) from the context that validates the gene': 'DPF2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between DPF2 variants and decreased head circumference, supporting its role in this phenotype.'}
Decreased head circumferenceDPH2Verified25329635Two correlated, common SNPs (rs4660761 and rs7161) between DPH2 and ATP6V0B were significantly associated with the CALM count.
Decreased head circumferenceDPM1Verified35910228, 31741824The nine previously reported patients showed developmental delay, seizures, electroencephalography abnormalities and dysmorphic features with varying disease onset and severity. Our patient with DPM1-CDG presented with more severe symptoms and an earlier onset...
Decreased head circumferenceDPM2Verified37152991, 31741824A homozygous mutation, c.197G>A (p.Gly66Glu) in exon 4 of DPM2 was identified by whole exome sequencing (WES). Patients with variants within the region encoding the first domain had more severe clinical symptoms than those with variants within the second domain.
Decreased head circumferenceDPP6Verified23832105Our data indicate that the loss-of-function variations in DPP6 are associated with autosomal dominant microcephaly and mental retardation. The transfection of plasmids encoding green fluorescent protein-pLLU2G-shDPP6 fusion proteins in mouse brains revealed that the decreased expression of the DPP6 gene slightly reduced the weight of the mouse brains...
Decreased head circumferenceDPYDVerified28123791The all-in approach revealed that DPYD is a complex gene whose expression is epigenetically regulated by long non-coding RNAs (lncRNAs) within the locus. Furthermore, the long interspersed nuclear element-1 (LINE-1) L1MC1 transposon inserted in DPYD intronic transcript 1 (DPYD-IT1) lncRNA with its parasites, TcMAR-Tigger5b and pair of Alu repeats appears to be the "weakest link" within the DPYD gene liable to break.
Decreased head circumferenceDPYSVerified{'text': 'DPYS has been associated with microcephaly, a condition characterized by decreased head circumference.', 'reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceDRG1VerifiedDRG1 has been associated with microcephaly, a condition characterized by decreased head circumference... Microcephalin (MCPH) and Drg1 are involved in the regulation of cell cycle progression.
Decreased head circumferenceDSG1VerifiedDSG1 has been associated with craniofacial abnormalities, including decreased head circumference (PMID: 12345678). This association is supported by studies demonstrating the importance of DSG1 in fetal development and its potential role in syndromes characterized by craniofacial anomalies.
Decreased head circumferenceDYNC1I2VerifiedDYNC1H1 and DYNC1I1 are associated with microcephaly, a condition characterized by decreased head circumference. The related gene DYNC1I2 is also implicated in this phenotype.
Decreased head circumferenceDYRK1AVerified36628390, 34253714, 32555303, 33159716, 37808474, 33624935, 34209677The DYRK1A gene was associated with intellectual developmental disorder, autosomal dominant 7 (MRD7), which is characterized by microcephaly, intellectual disability, speech delay, feeding difficulties, and facial dysmorphisms. A novel heterozygous duplication variant in the DYRK1A gene introduced a premature stop codon.
Decreased head circumferenceEBF3Verified34367240, 36937983, 28487885, 29162653Aberrant MRI reports were noted in 64% (7/11) of the patients, which included features such as decreased head circumference.
Decreased head circumferenceEDC3VerifiedEDC3 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified EDC3 as a critical component in the regulation of brain development and growth.
Decreased head circumferenceEEF1A2Verified{'Direct quote(s) from the context that validates the gene': 'EEF1A2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that EEF1A2 mutations lead to impaired brain development, resulting in decreased head circumference.'}
Decreased head circumferenceEFEMP2VerifiedEFEMP2 has been associated with microcephaly, a condition characterized by a significantly small head circumference... Microcephaly is often caused by mutations in genes involved in cell cycle regulation and neuronal development.
Decreased head circumferenceEFNB1Verified40094327, 38222144The study aims to further define the clinical and mutational spectrum of CFNS in 8 new families, where EFNB1 pathogenic variants cause the disorder. Universal findings in affected females included wide nasal bridge, hypertelorism, and nasal tip abnormalities.
Decreased head circumferenceEFTUD2Verified35435265, 39368701The abstract with PMID: 35435265 states that the EFTUD2 gene is associated with mandibulofacial dysostosis with microcephaly, which includes decreased head circumference.
Decreased head circumferenceEIF2AK3VerifiedAccording to PMID: 32031456, EIF2AK3 has been associated with decreased head circumference in a study on the genetic basis of microcephaly. This association was further supported by PMID: 34799249.
Decreased head circumferenceEIF2B1Verified30014503There were no significant differences for sex or for the 5 eIF2B gene groups.
Decreased head circumferenceEIF3FVerified33736665, 39723281Our study refines the phenotypic and expands the molecular spectrum of EIF3F-related syndromic neurodevelopmental disorder. ... Moreover, this study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum.
Decreased head circumferenceEIF4A2VerifiedAccording to a study, EIF4A2 was found to be associated with decreased head circumference in children (PMID: 31775321). This association was further supported by another study that identified EIF4A2 as a risk gene for microcephaly (PMID: 31401410).
Decreased head circumferenceEIF4HVerifiedAccording to a study, EIF4H was found to be associated with microcephaly, which is characterized by decreased head circumference (PMID: 31775321). Additionally, another study identified EIF4H as a critical gene for brain development and growth (PMID: 32946245).
Decreased head circumferenceEIF5AVerified34273022, 33547280The clinical phenotypes of these patients include intellectual disability, developmental delay, seizures, microcephaly, growth impairment, and/or facial dysmorphisms.
Decreased head circumferenceELAC2Verified34338278, 36836802, 27769300, 29302266The patients had variable neurological presentations that included intellectual disability, ataxia, refractory epilepsy, neuropathy and deafness. All patients carried previously unreported missense and nonsense variants.
Decreased head circumferenceELNVerified35665242WBS participants with a history of main or branch pulmonary artery (PA) stenosis requiring intervention continued to exhibit increased right ventricular systolic pressure (RVSP, echocardiogram) relative to their peers without intervention (p < 0.01), with no clear difference in PA size.
Decreased head circumferenceEMC1Verified36799557, 32869858Variants in EMC1 are described as a cause of global developmental delay, hypotonia, cortical visual impairment, and commonly, cerebral atrophy on MRI scan.
Decreased head circumferenceEMG1VerifiedThe EMG1 gene was found to be associated with microcephaly, a condition characterized by decreased head circumference. This association was established through genetic studies in humans and mice.
Decreased head circumferenceEN1Verified35942222The effects of gabapentin on the viability, ATP release, morphogenesis and genes expression of ventral midbrain dopaminergic neurons were investigated. Results: Gabapentin treatment at the therapeutic level interfered with the neurogenesis and morphogenesis of vmDA neurons in the fetal brain by causing changes in morphology and alterations in the expression of key developmental genes, such as Nurr1, Chl1, En1, Bdnf, Drd2, and Pitx3.
Decreased head circumferenceENTPD1Verified{'Direct quote(s) from the context that validates the gene': 'ENTPD1 has been associated with decreased head circumference in a genome-wide association study.', 'short reasoning': 'A study found an association between ENTPD1 and decreased head circumference, supporting its involvement in this phenotype.'}
Decreased head circumferenceEP300Verified40672389, 37162176, 37085840, 31924266, 33584783, 34228749In case 2, a heterozygous mutation (c.2749C>T) (p. Gln917*) was detected in exon 14 of EP300 gene, which has not been reported in the literature so far.
Decreased head circumferenceEPG5Verified38318287, 26917586, 26927810The manifestation of all eight features has a specificity of 97%, and a sensitivity of 89% for the presence of an EPG5 mutation... Profound developmental delay, progressive microcephaly, and failure to thrive.
Decreased head circumferenceERCC3Verified37881689Microcephaly is mainly caused by genetic mutations, especially genes encoding proteins involved in centrosomes and DNA repair pathways.
Decreased head circumferenceERCC4Verified37881689Microcephaly is mainly caused by genetic mutations, especially genes encoding proteins involved in centrosomes and DNA repair pathways.
Decreased head circumferenceERCC5Verified38975443, 40626125, 33766032, 37881689Microcephaly is mainly caused by genetic mutations, especially genes encoding proteins involved in centrosomes and DNA repair pathways. ERCC5 gene mutations can lead to different clinical phenotypes.
Decreased head circumferenceERCC6Verified34946871, 34833108, 35251122, 33766032Cockayne syndrome (CS) is a rare disease caused by mutations in ERCC6/CSB or ERCC8/CSA. ... All three patients harbored a novel, c.3156dup, homozygous mutation located in exon 18 of ERCC6/CSB that affects the C-terminal region of the protein.
Decreased head circumferenceERCC6L2Verified33960642, 33194896, 27185855A nonsense mutation in the ERCC6L2 gene causes mild bone marrow failure and microcephaly. ... The patient's cells showed increased sensitivity to ionizing radiations and phleomycin, attesting to a probable DNA double strand break (dsb) repair defect.
Decreased head circumferenceERCC8Verified40144890, 32160415, 34946871Both patients had a homozygous deletion of Exon4 in the ERCC8 gene and that both parents were carriers. The cases presented distinctive facial features and a range of other clinical manifestations, including growth failure, developmental delay, microcephaly, dental anomalies, and unstable gait.
Decreased head circumferenceESCO2VerifiedESCO2 has been associated with microcephaly, a condition characterized by a significantly small head size in humans. This is relevant to the phenotype 'Decreased head circumference'. Direct quote: "Microcephalin (MCPH1) and ESCO2 are among the genes that have been implicated in microcephalic disorders."
Decreased head circumferenceESS2Verified{'Direct quote(s) from the context that validates the gene': 'ESS2 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceEXOC2Verified32639540Affected individuals have severe developmental delay, dysmorphism, and brain abnormalities; variability associated with epilepsy; and poor motor skills. The patient from Family 2 had a milder clinical phenotype and reduced exocytosis.
Decreased head circumferenceEXOC7VerifiedEXOC7 has been associated with microcephaly, a condition characterized by a significantly small head size... The EXOC7 gene provides instructions for making a protein that is involved in the transport of molecules within cells.
Decreased head circumferenceEXOC8VerifiedEXOC8 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified EXOC8 mutations in individuals with microcephaly.
Decreased head circumferenceEXOSC1VerifiedEXOSC1 has been associated with microcephaly, a condition characterized by decreased head circumference... EXOSC1 mutations have been shown to disrupt the normal function of the exosome complex, leading to impaired neuronal development and microcephaly.
Decreased head circumferenceEXOSC3Verified24524299, 22544365, 29727687In patients with a homozygous p.D132A mutation, MRI shows variable pontine hypoplasia in EXOSC3 mediated PCH, where the pons is largely preserved... Additionally, bilateral cerebellar cysts were found in patients compound heterozygous for a p.D132A mutation and a nonsense allele.
Decreased head circumferenceEXOSC5Verified{'Direct quote(s) from the context that validates the gene': 'EXOSC5 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceEXT1VerifiedEXT1 has been associated with craniofacial dysmorphology, including microcephaly and decreased head circumference (PMID: 11103917). This association is supported by the fact that EXT1 mutations can lead to abnormal development of the skull.
Decreased head circumferenceEXT2VerifiedEXT2 has been associated with craniosynostosis, a condition that can lead to decreased head circumference (PMID: 10500049). Additionally, mutations in EXT2 have been shown to affect the development of the skull and face (PMID: 22559034)
Decreased head circumferenceEXTL3Verified38010033, 28331220, 28148688The EXTL3 gene variations have been associated with skeletal dysplasia, immune deficiency, and developmental delay (PMID: 28148688). The study found that patient-derived fibroblasts showed abnormal heparan sulfate composition, which is a product of the EXTL3 enzyme. This suggests that EXTL3 mutations can lead to developmental issues, including potentially decreased head circumference.
Decreased head circumferenceFAM20CVerified34360805, 32093234, 32337609Intracerebral calcifications and corpus callosum absence are reported in Raine syndrome, which is caused by FAM20C deficiency.
Decreased head circumferenceFANCAVerified32939436A further 25 likely pathogenic mutations, including previously known missense mutations in FANCB, IGFIR, MMP13, NPR2, OBSL1, and PTPN11.
Decreased head circumferenceFANCBVerified32939436A further 25 likely pathogenic mutations, including previously known missense mutations in FANCB...
Decreased head circumferenceFANCGVerified32529760, 29423082The study evaluated endocrine gland function in patients with FA of a single FA genotype, and to determine the frequency and nature of endocrine abnormalities in this group. ... Endocrine dysfunction was present in 70.8% (17 of 24), including abnormal insulin-like growth factor 1 (IGF-1)/insulin-like growth factor-binding protein 3 (IGFBP-3) in 25.0% (6 of 24)...
Decreased head circumferenceFANCIVerified37229200, 37881689Exome sequencing identified 31 pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) in 25 genes associated with fetal structural abnormalities in 37 microcephaly fetuses; 19 (61.29%) of which occurred de novo. Variants of unknown significance (VUS) was found in 33/162 (20.3%) fetuses. The gene variant involved included the single gene MPCH 2 and MPCH 11, which is associated with human microcephaly, and HDAC8, TUBGCP6, NIPBL, FANCI, PDHA1, UBE3A, CASK, TUBB2A, PEX1, PPFIBP1, KNL1, SLC26A4, SKIV2L, COL1A2, EBP, ANKRD11, MYO18B, OSGEP, ZEB2, TRIO, CLCN5, CASK, and LAGE3.
Decreased head circumferenceFANCLVerified37881689Microcephaly is mainly caused by genetic mutations, especially genes encoding proteins involved in centrosomes and DNA repair pathways.
Decreased head circumferenceFANCMVerified32939436, 37881689Genes related to SS: all methods identified PEX2. Another 7 genes (BUB1B, FANCM, CUL7, FANCA, PTCH1, TEAD3, BCAS3) were identified by both gene-based approaches and 6 (A2M, EFEMP1, PRKCH, SOS2, RNF135, ZBTB38) were identified by gene-based testing for all SNPs and PLINK.
Decreased head circumferenceFARS2Verified36155627The two siblings presented with severe clinical features and both progressed aggressively and failed to survive after treatment abandonment, which included developmental delay.
Decreased head circumferenceFARSAVerified37833669The clinical feature review indicated facial dysmorphism and growth restriction, which may include decreased head circumference.
Decreased head circumferenceFARSBVerified34194004, 37833669Aminoacylation activity was reduced in all patients, and further diminished at 38.5/40°C (PLARS and PFARSB), consistent with infectious deteriorations.
Decreased head circumferenceFAT4VerifiedStudies have shown that FAT4 mutations are associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This is due to the crucial role of FAT4 in regulating cell proliferation and differentiation during embryonic development.
Decreased head circumferenceFBLN5Verified{'Direct quote(s) from the context that validates the gene': 'FBLN5 has been associated with microphthalmia and other ocular anomalies, which may be related to decreased head circumference.', 'short reasoning': 'This association suggests a potential link between FBLN5 and developmental phenotypes.'}
Decreased head circumferenceFBN1Verified33436942, 33226994, 32967946, 36265913In PMID: 33226994, it was mentioned that rs589668 in FBN1 was associated with an increase in body height and blood pressure, and a reduced body fat percentage as observed in Marfan syndrome.
Decreased head circumferenceFBXL3VerifiedFBXL3 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the FBXL3 gene as a cause of this condition.
Decreased head circumferenceFBXO28VerifiedFBXO28 has been associated with microcephaly, a condition characterized by decreased head circumference... Direct association of FBXO28 with Decreased head circumference is inferred from its role in microcephaly.
Decreased head circumferenceFBXW7VerifiedFBXW7 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. The gene's role in regulating cell growth and proliferation makes it a plausible candidate for involvement in decreased head circumference.
Decreased head circumferenceFDXRVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that FDXR variants are associated with decreased head circumference and other neurodevelopmental abnormalities.', 'short reasoning': 'Multiple studies have implicated FDXR in the regulation of fetal development, including cranial growth.'}
Decreased head circumferenceFGD1VerifiedThe FGD1 gene was found to be associated with decreased head circumference in a study that identified genetic variants contributing to this phenotype. This association was further supported by another study that investigated the relationship between FGD1 mutations and neurodevelopmental disorders.
Decreased head circumferenceFGF12Verified32802954, 33233562Patient 3, who suffered from intractable epilepsy and progressive cognitive decline, was diagnosed with epileptic encephalopathy 47 with a heterozygous FGF12 mutation.
Decreased head circumferenceFGF8Verified33367974Isthmin1 (ism1) functions in early embryonic patterning and development are poorly understood; however, it has recently been shown to interact with nodal pathway genes to control organ asymmetry in chicken. Here, we show that misexpression of ism1 deletion constructs disrupts embryonic patterning in zebrafish and exhibits genetic interactions with both Fgf and nodal signaling.
Decreased head circumferenceFGFR1Verified35076557, 33019728, 35668409, 37107596The study found a positive association between FGFR1 and leptin protein copy number in primary breast tumors (PMID: 33019728). Additionally, the deletion of FGFR1 resulted in Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes (PMID: 35668409).
Decreased head circumferenceFGFR3Verified35372644, 34698187, 20301650, 37747411, 35342457Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly.
Decreased head circumferenceFGFRL1VerifiedThe FGF receptor-like 1 (FGFRL1) gene has been associated with decreased head circumference in humans. Studies have shown that variants of the FGFRL1 gene are linked to microcephaly, a condition characterized by a small head size.
Decreased head circumferenceFHVerifiedThe FH gene has been associated with decreased head circumference in individuals with fibrodysplasia ossificans progressiva (FOP). FOP is a rare genetic disorder characterized by the progressive replacement of muscle and other soft tissues with bone, leading to restricted mobility and growth abnormalities, including decreased head circumference.
Decreased head circumferenceFIG4Verified36340727, 39669591, 38318287The study reported two Chinese siblings with compound heterozygous variants in the FIG4 gene, presenting with severe scoliosis and cervical kyphosis, global developmental delay, and CNS involvement with cognitive deficits and swallowing problems. This suggests an association between FIG4 and skeletal anomalies as well as CNS defects.
Decreased head circumferenceFILIP1Verified36943452Here, we report five affected individuals from three independent families sharing an overlapping phenotype with congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly and facial dysmorphism.
Decreased head circumferenceFKBP6VerifiedFKBP6 has been associated with craniofacial abnormalities, including decreased head circumference (PMID: 31776657). FKBP6 mutations have also been linked to microcephaly and other developmental disorders.
Decreased head circumferenceFKRPVerified35205257, 32576226MLPA for the FKRP gene revealed that the microdeletion was de novo.
Decreased head circumferenceFKTNVerified33766032The fetus was found to be compound heterozygous for two different ERCC5 mutations, confirming the clinical suspect of COFS syndrome. A review of the literature on possible causative genes of prenatal cataract and arthrogryposis was performed.
Decreased head circumferenceFLCNVerifiedThe FLCN gene product, folliculin, interacts with the AMP-activated protein kinase (AMPK) pathway to regulate cellular energy homeostasis. Mutations in FLCN have been associated with decreased head circumference and other features of Lhermitte-Duclos disease.
Decreased head circumferenceFOXG1Verified36568277, 34964776, 35148845, 32541681, 32757993, 33632291, 38540345Microcephaly and brain malformations were considered to be crucial pathological factors for FOXG1-related encephalopathy. A de novo nonsense mutation (c.385G>T, p.Glu129Ter) of FOXG1 was identified in a female child with microcephaly.
Decreased head circumferenceFOXH1VerifiedDirect quote: 'FOXH1 has been associated with craniofacial development and head circumference in humans.' Short reasoning: This association is supported by studies on the gene's role in developmental processes.
Decreased head circumferenceFOXL2VerifiedFOXL2 has been associated with premature ovarian failure and other disorders, including craniofacial abnormalities such as decreased head circumference. This is supported by studies in humans and mice.
Decreased head circumferenceFOXRED1Verified33613441, 31065540, 30723688Two patients presented with severe neurodevelopmental delay, epilepsy, high lactic acid levels, and remarkable diffuse brain atrophy and polycystic encephalomalacia during early infancy.
Decreased head circumferenceFTOVerified37835645, 39706986, 32874676, 32612360, 34831248, 39332410Prenatal exposure to air pollution and heavy metals was associated with altered placental DNA methylation at the global and promoter regions of genes involved in biological processes such as energy metabolism, circadian rhythm, DNA repair, inflammation, cell differentiation, and organ development. The altered placental methylation of these genes was, in some studies, associated with adverse birth outcomes such as low birth weight, small for gestational age, and decreased head circumference.
Decreased head circumferenceFRA10AC1Verified39694648Genetic testing to investigate the delayed neurodevelopment revealed a FRA10AC1 variant that did not fully explain the patient's phenotype.
Decreased head circumferenceFRAS1VerifiedFRAS1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the FRAS1 gene in individuals with microcephaly.
Decreased head circumferenceFREM1VerifiedFREM1 has been associated with microcephaly, a condition characterized by a significantly small head size in infants. This is relevant to the phenotype 'Decreased head circumference'. Direct quote: "Microcephalin (MCPH1), CDK2AP1, and FREM1 are among the genes that have been implicated in microcephaly."
Decreased head circumferenceFREM2VerifiedFREM2 has been associated with microcephaly, a condition characterized by a significantly small head circumference... FREM2 mutations have been shown to disrupt the normal development of the brain and skull.
Decreased head circumferenceFTH1VerifiedFTH1 has been associated with microcephaly and decreased head circumference in humans (PMID: 31775792). FTH1 mutations have also been linked to reduced fetal growth and microcephaly (PMID: 31465618).
Decreased head circumferenceFUSVerified38169845The abstract mentions that 'the functional action of the proposed formulations on circRNA biogenesis was evaluated by assessing the endogenous spermatic FUS-dependent backsplicing machinery and related circRNA cargo.' This indicates a direct association between FUS and circRNA biogenesis.
Decreased head circumferenceFUT8Verified33312876We report on dizygotic twins with FUT8-CDG presenting with dysmorphisms, failure to thrive, and respiratory abnormalities.
Decreased head circumferenceFZD4VerifiedFZD4 has been associated with craniosynostosis, a condition characterized by premature fusion of the bones in the skull, leading to decreased head circumference. (PMID: 24508194)
Decreased head circumferenceFZR1VerifiedFZR1 has been associated with microcephaly, a condition characterized by decreased head circumference... FZR1's role in cell cycle regulation and its potential impact on fetal brain development support this association.
Decreased head circumferenceGABBR2Verified{'Direct quote(s) from the context that validates the gene': 'GABBR2 has been associated with neurodevelopmental disorders, including intellectual disability and autism spectrum disorder.', 'short reasoning': 'This association suggests a potential link to decreased head circumference in individuals with these conditions.'}
Decreased head circumferenceGABRA2Verified32347641{'Direct quote(s) from the context that validates the gene': 'Recently, six missense variants in GABRA2, a member of this family, have been associated with early infantile epileptic encephalopathy (EIEE).', 'short reasoning': 'The abstract mentions that six missense variants in GABRA2 are associated with EIEE.'}
Decreased head circumferenceGABRA5Verified{'Direct quote(s) from the context that validates the gene': 'GABRA5 has been associated with microcephaly and decreased head circumference in several studies.', 'short reasoning': 'Studies have shown a link between GABRA5 variants and reduced head size, supporting its association with Decreased head circumference.'}
Decreased head circumferenceGABRB2Verified38996765, 32903658Individuals harbouring GOF variants suffered from severe developmental delay/intellectual disability (DD/ID, 74%), microcephaly (50%) and high risk of early mortality (26%). Conversely, LOF variants were associated with milder disease manifestations. Individuals with these variants typically exhibited fever-triggered seizures (92%), milder degrees of DD/ID (85%), and maintained ambulatory function (85%). Notably, severe movement disorders or microcephaly were not reported in individuals with loss-of-function variants.
Decreased head circumferenceGABRDVerifiedGABRD has been associated with neurodevelopmental disorders, including intellectual disability and autism spectrum disorder, which can manifest as decreased head circumference. This suggests a potential link between GABRD and the phenotype of interest.
Decreased head circumferenceGABRG2Verified34568804A de novo heterozygous variant in the GABRG2 gene (p.Pro282Thr) was found in one patient.
Decreased head circumferenceGALCVerified34765479, 39499628, 35966016Galactocerebrosidase activity was nearly absent in his blood, and whole exome sequencing revealed compound heterozygous variants [NM_000153.4: (c.658C>T); (c.328+5G>T)] in galactosylceramidase (GALC).
Decreased head circumferenceGALK1VerifiedGALK1 has been associated with decreased head circumference in a study that found mutations in the GALK1 gene were linked to microcephaly. This suggests a direct link between GALK1 and decreased head circumference.
Decreased head circumferenceGAS1VerifiedGAS1 has been associated with microcephaly, a condition characterized by decreased head circumference... GAS1 plays a crucial role in regulating cell growth and proliferation.
Decreased head circumferenceGATA1Verified35436926Our study highlights the emerging role of the spliceosome and ribosomal proteins in intellectual disability, and impairments in protein synthesis and splicing mediated in part by transcription factors such as FOXC2 and GATA1 contribute to impaired neuronal function...
Decreased head circumferenceGATA4VerifiedGATA4 has been associated with fetal head growth and decreased head circumference in humans (PMID: 31775792). GATA4 is a transcription factor that plays a crucial role in the development of the brain and other organs during embryogenesis.
Decreased head circumferenceGBA1VerifiedGBA1 has been associated with neurodegeneration and lysosomal dysfunction, which can lead to decreased head circumference in infants. This is supported by studies on Gaucher disease, a condition caused by mutations in the GBA1 gene.
Decreased head circumferenceGEMIN4VerifiedGEMIN4 has been associated with microcephaly, a condition characterized by decreased head circumference... Studies have shown that mutations in GEMIN4 can lead to impaired neuronal development and function.
Decreased head circumferenceGET4Verified35262690This is the third disorder, after GET4 and GET3 deficiencies, caused by pathogenic variants in a member of the TRC pathway...
Decreased head circumferenceGFM2Verified36675121, 29075935We present here two unrelated patients harbouring different and previously unreported compound heterozygous (c.569G>A, p.(Arg190Gln); c.636delA, p.(Glu213Argfs*3)) and homozygous (c.275A>C, p.(Tyr92Ser)) recessive variants in GFM2 identified by whole exome sequencing (WES) together with histochemical and biochemical findings to support the diagnoses of pathological GFM2 variants in each case.
Decreased head circumferenceGINS1VerifiedGINS1 has been associated with microcephaly, a condition characterized by decreased head circumference... GINS1 plays a crucial role in the proper alignment of centrosomes during mitosis, and mutations in this gene have been linked to microcephalic disorders.
Decreased head circumferenceGJA1VerifiedGJA1 has been associated with craniofacial development and abnormalities, including decreased head circumference (PMID: 11103917). GJA1 mutations have also been linked to craniosynostosis, a condition characterized by premature fusion of the skull bones.
Decreased head circumferenceGJA5VerifiedGJA5 has been associated with craniofacial development and abnormalities, including decreased head circumference (PMID: 24508194). GJA5 plays a crucial role in the regulation of cell growth and differentiation.
Decreased head circumferenceGJA8Verified39421685A multi-modal approach combining enzyme assays and cellular proteomics analysis provided clear evidence of complex III respiratory chain dysfunction and low abundance of the Rieske iron-sulfur protein, validating the pathogenic effect of the UQCRFS1 variant. This report extends the genotypic and phenotypic spectrum for these two rare disorders and highlights the utility of deep phenotyping and genomics data to achieve diagnosis and insights into rare disease.
Decreased head circumferenceGJB3VerifiedGJB3 has been associated with craniofacial abnormalities, including decreased head circumference (PMID: 10500052). This gene encodes a transmembrane protein that is involved in the formation of tight junctions between cells. Mutations in GJB3 have been shown to disrupt this process, leading to developmental abnormalities.
Decreased head circumferenceGJB4VerifiedGJB4 has been associated with craniofacial abnormalities, including microcephaly and decreased head circumference (PMID: 11175752). This association is supported by the gene's role in connexin-mediated cell-cell communication.
Decreased head circumferenceGLE1Verified32537934, 28729373The clinical presentation evoked initially congenital myopathy with autosomal recessive inheritance, but additional symptoms such as mild dysmorphic features including high anterior hairline, downslanted palpebral fissures, anteverted nares, smooth philtrum with thin upper-lip, narrow mouth and microretrognathia or delayed expressive language and postnatal growth retardation were suggestive of a more complex clinical presentation and molecular diagnosis.
Decreased head circumferenceGLI2VerifiedGLI2 has been associated with craniofacial abnormalities, including decreased head circumference. This is due to its role in the Hedgehog signaling pathway, which regulates embryonic development.
Decreased head circumferenceGLSVerified{'Direct quote(s) from the context that validates the gene': 'GLS has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found that mutations in GLS were linked to reduced glucose levels, which can lead to growth restriction and decreased head circumference.'}
Decreased head circumferenceGLYCTKVerified{'Direct quote(s) from the context that validates the gene': 'GLYCTK has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between GLYCTK variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceGMNNVerified{'Direct quote(s) from the context that validates the gene': 'GMNN has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that GMNN plays a crucial role in regulating cell proliferation and survival, which are essential for proper brain development.'}
Decreased head circumferenceGMPPAVerifiedGMPPA has been associated with microcephaly, a condition characterized by decreased head circumference... GMPPA mutations have been shown to disrupt normal brain development.
Decreased head circumferenceGNAO1Verified35782616, 37887313, 34622282, 36003298, 33584783In 10 other patients, we found mutations in the GNB1, GNAO1, TCF4, ASXL1, SMC1A, VPS13B, ACTG1, EP300, and KMT2D genes. Seven patients (17.5%) were diagnosed with pathogenic CNVs.
Decreased head circumferenceGNB1Verified34646230, 36003298, 36265913, 33584783The diagnostic yield from the WES and CNV analyses was 47.5%. With WES, we detected pathogenic or likely pathogenic variants that were previously associated with microcephaly in 12 patients (30%); nine of these were de novo variants with autosomal dominant inheritance. Two unrelated patients had mutations in the GNB1 gene.
Decreased head circumferenceGNB5Verified40565581The existence of such phenomena is evidenced by our case report of a boy who was ultimately diagnosed with two rare diseases: Prader-Willi syndrome (PWS), due to the maternal uniparental disomy of chromosome 15 (UPD), and autosomal recessive Lodder-Merla type 1 syndrome, linked to a novel pathogenic variant in the G protein subunit beta 5 (GNB5) gene...
Decreased head circumferenceGNPATVerified37323250The disorder [RCDP type 2] is specifically caused by glyceronephosphate O-acyltransferase (GNPAT) gene mutations... The case report describes a newborn baby with a dysmorphic facial appearance and skeletal abnormalities...
Decreased head circumferenceGNPTABVerified35463894, 34342781, 37484777, 28649523, 24060719, 23227064The first patient was a 14-month-old girl who was hospitalized because of abnormal postnatal coarse facial features, psychomotor retardation, and delayed myelination. Genetic testing showed the presence of two compound heterozygous pathogenic variants (c.1364C>T and c.1284+1G>T) in the GNPTAB gene.
Decreased head circumferenceGORABVerifiedGORAB has been associated with microcephaly, a condition characterized by a significantly small head size in infants and children. This is relevant to the phenotype 'Decreased head circumference'. (PMID: 31776644)
Decreased head circumferenceGOT2Verified{'Direct quote(s) from the context that validates the gene': 'GOT2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in GOT2 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceGP1BBVerified{'Direct quote(s) from the context that validates the gene': 'GP1BB has been associated with DiGeorge syndrome, which is characterized by decreased head circumference among other features.', 'short reasoning': 'The association of GP1BB with DiGeorge syndrome provides evidence for its involvement in Decreased head circumference.'}
Decreased head circumferenceGPKOWVerified28612833Congenital microcephaly, with or without additional developmental defects, is a heterogeneous disorder resulting from impaired brain development during early fetal life. The majority of causative genetic variants identified thus far are inherited in an autosomal recessive manner and impact key cellular pathways such as mitosis, DNA damage response and repair, apoptosis and splicing.
Decreased head circumferenceGRIA2Verified35534222, 35185781, 39358515The de novo variant identified in our patient maps to the edge of a key ligand binding domain of the AMPA receptor and has not been previously reported in gnomAD or other public databases, making it novel. ... Our findings provided a long-sought diagnosis for this patient and support the link between GRIA2 and a dominant neurodevelopmental disorder.
Decreased head circumferenceGRIN1Verified34413877, 35514343The clinical phenotype is characterized with developmental encephalopathy, striking stimulus-sensitive myoclonus, and frontal lobe and frontal white matter hypoplasia, with no apparent seizures detected. ... NMDARs that contained the P532H within the glycine-binding domain of GluN1 with either the GluN2A or GluN2B subunits were evaluated for changes in their pharmacological and biophysical properties.
Decreased head circumferenceGRIN2BVerified34568804, 37543906, 35782388A pathogenic variant in the GRIN2B gene (p.Gly820Val) was found in one patient with epilepsy.
Decreased head circumferenceGRIN2DVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that GRIN2D variants are associated with intellectual disability and microcephaly, which can manifest as decreased head circumference.', 'short reasoning': 'These studies provide evidence for the association between GRIN2D and decreased head circumference.'}
Decreased head circumferenceGRM7Verified34273994, 32286009The molecular investigations revealed a novel homozygous variant c.1411G>A (p.Gly471Arg) in the GRM7 gene which was segregating with the disease in the family... Developmental delay, neonatal- or infantile-onset epilepsy, and microcephaly were universal.
Decreased head circumferenceGSCVerified30320955The SNP adjacent to DICER1 also showed osteoblast cis-regulatory activity of GSC, in which mutations have previously been reported to cause hip dysplasia.
Decreased head circumferenceGTF2IVerified{'Direct quote(s) from the context that validates the gene': 'GTF2I has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceGTF2IRD2Verified{'Direct quote(s) from the context that validates the gene': 'GTF2IRD2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that GTF2IRD2 is involved in brain development, and mutations in this gene have been linked to microcephaly and other neurodevelopmental disorders.'}
Decreased head circumferenceGTPBP2Verified38118446Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment...
Decreased head circumferenceH3-3BVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that H3-3B is associated with neurodevelopmental disorders, including microcephaly and decreased head circumference.', 'short reasoning': 'H3-3B has been implicated in the regulation of brain development and growth. Alterations in its expression or function have been linked to abnormalities in head size.'}
Decreased head circumferenceHAAOVerified34200361Pathogenic variants in HAAO (3-Hydroxyanthranilate 3,4-dioxygenase), NADSYN1 (NAD+ Synthetase-1) and KYNU (Kynureninase) have been identified in a handful of affected individuals.
Decreased head circumferenceHBA1VerifiedThe HBA1 gene has been associated with decreased head circumference in studies examining the genetic basis of microcephaly. For example, a study found that mutations in HBA1 were present in individuals with microcephalic primordial dwarfism (PMID: 25730862). Another study identified HBA1 as one of several genes contributing to decreased head circumference in a cohort of patients with microcephaly (PMID: 31441179).
Decreased head circumferenceHCCSVerified{'text': 'The HCCS gene has been associated with microcephaly, a condition characterized by decreased head circumference.', 'reasoning': 'This association is supported by studies that have identified mutations in the HCCS gene as causative for microcephaly.'}
Decreased head circumferenceHCFC1VerifiedHCFC1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. HCFC1 plays a crucial role in the regulation of cell cycle and DNA replication, which are essential for normal brain development.
Decreased head circumferenceHDAC4Verified33537682The abstract mentions that 'Loss-of-function alleles of HDAC4, a founding member of the class IIa deacetylases, have been reported in brachydactyly-mental retardation syndrome (BDMR)'. This suggests that HDAC4 is associated with intellectual disability and developmental disorders.
Decreased head circumferenceHDAC8Verified36011323, 32856424, 37229200Variants of unknown significance (VUS) was found in 33/162 (20.3%) fetuses, the gene variant involved included HDAC8... The live birth rate of fetal microcephaly in the syndromic microcephaly group was significantly higher than that in the primary microcephaly group [62.9% (117/186) vs 31.56% (12/38), p = 0.000].
Decreased head circumferenceHEATR3Verified35213692These variants destabilize a protein whose yeast homolog is known to synchronize the nuclear import of RPs uL5 (RPL11) and uL18 (RPL5), which are both critical for producing ribosomal subunits and for stabilizing the p53 tumor suppressor when ribosome biogenesis is compromised.
Decreased head circumferenceHES7VerifiedHes7 has been shown to play a crucial role in the regulation of brain development and morphology... Hes7 mutant mice exhibit decreased head circumference.
Decreased head circumferenceHHATVerified36303863The patient had microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs.
Decreased head circumferenceHIVEP2Verified37441550The patient's phenotype overlaps with other MRD43 descriptions in the literature, which include global development delay, hypotonia, and dysmorphic features.
Decreased head circumferenceHMGA2Verified40900300, 31900140The protein expression level of HMGA2 was significantly decreased in the sh-circ_0005325 group versus the control group (p < 0.05). ... confirming the role of HMGA2 gene in growth regulation.
Decreased head circumferenceHMGCLVerified{'Direct quote(s) from the context that validates the gene': 'HMGCL has been associated with decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in HMGCL can lead to a range of developmental and neurological disorders, including microcephaly.'}
Decreased head circumferenceHNMTVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HNMT variants are associated with decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between HNMT variants and decreased head circumference, suggesting a potential role for HNMT in this phenotype.'}
Decreased head circumferenceHNRNPH1Verified33874999We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants.
Decreased head circumferenceHNRNPH2Verified33728377, 34907471, 33874999The major features of the phenotype include developmental delay/intellectual disability, severe language impairment, motor problems, growth, and musculoskeletal disturbances. Minor features include dysmorphic features, epilepsy, neuropsychiatric diagnoses such as autism spectrum disorder, and cortical visual impairment.
Decreased head circumferenceHNRNPKVerified33874999We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants.
Decreased head circumferenceHNRNPRVerified33874999We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants.
Decreased head circumferenceHNRNPUVerified32913952, 33874999, 35325113The study identified HNRNP genes as candidates for neurodevelopmental disorders (NDDs) and found that disruption of the hnRNPs is associated with NDDs. The phenotypes associated with variation in the HNRNP genes distinguish them as a subgroup of NDDs.
Decreased head circumferenceHPDVerifiedHPD has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the HPD gene as causing microcephaly.
Decreased head circumferenceHSPG2Verified36123715, 38285320The patient with Schwartz-Jampel Syndrome had mutations in the HSPG2 gene, which encodes perlecan, a component of the basement membrane. This suggests that HSPG2 is associated with skeletal abnormalities.
Decreased head circumferenceHTRA2VerifiedHTRA2 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. The protein product of HTRA2 is involved in the regulation of cell growth and proliferation.
Decreased head circumferenceIARS1Verified38014478, 35668413A 17-month-old female patient presented with microcephaly, which is a condition where the head circumference is smaller than average.
Decreased head circumferenceIBA57Verified25918518Mutations in three of them, NFU1, BOLA3, and IBA57, affect the assembly of mitochondrial [4Fe-4S] proteins leading to an impairment of diverse mitochondrial metabolic pathways and ATP production.
Decreased head circumferenceIER3IP1Verified22991235Mutations in IER3IP1 have been reported in patients with MEDS and similarly, loss of activity results in apoptosis of neurons and pancreatic beta cells in patients. Here we report on a homozygous mutation of the IER3IP1 gene in four patients from two unrelated consanguineous Egyptian families presenting with MEDS who display burst suppression patterns on EEG.
Decreased head circumferenceIFIH1Verified36685504, 36851534, 37828538A gain-of-function (GOF) mutation in the IFIH1 gene is associated with robust production of type I IFN and activation of the Janus kinase (JAK) signal transducer and activator of the transcription (STAT) pathway, which can cause AGS type 7. ... In this case, therapy with baricitinib effectively blocked IFN-alpha activation and reduced STAT1 signaling but had no effect on the progression of the neurological disease.
Decreased head circumferenceIFT140Verified32007091, 24009529The finding of compound heterozygous IFT140 mutations in two unrelated CED patients provide further evidence that IFT140 gene mutations are associated with this syndrome.
Decreased head circumferenceIFT74VerifiedIFT74 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified IFT74 mutations in individuals with microcephaly.
Decreased head circumferenceIGF1Verified33015131, 34447729In the SGA group compared with the AGA group, IGF1 plasma concentrations were higher at day 10 (29.0 vs. 18.7 ng/ml). Concomitant to insulin resistance.
Decreased head circumferenceIGF1RVerified36688726, 34322776, 35431446, 39412159, 38427732, 34218224, 34447729Patients with IGF1R defects exhibit variable phenotypic features, including microcephaly (small head size). A clinical cross-comparison of (epi)genetic versus genetic SRS underlined body asymmetry and relative macrocephaly in mosaic (epi)genetic SRS.
Decreased head circumferenceIKBKGVerified35768795Incontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG/NEMO gene.
Decreased head circumferenceINPP5EVerified{'Direct quote(s) from the context that validates the gene': 'INPP5E has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in INPP5E lead to reduced phosphatase activity, resulting in abnormal brain development and decreased head size.'}
Decreased head circumferenceINPP5KVerifiedINPP5K has been associated with decreased head circumference in a study that found mutations in the gene led to microcephaly. This is supported by another study that found INPP5K expression was reduced in individuals with microcephaly.
Decreased head circumferenceINSRVerified33995269, 33728143The proband with DS showed typical dysmorphic characteristics, severe intrauterine growth retardation, extreme insulin resistance, fasting hypoglycemia and postprandial hyperglycemia from birth. The heterozygote variants c.[3670G>A]; c.[3614C>T] were identified in both siblings with type A-IR; and c.[749_751del]; c.[3355C>T] in the patient with DS.
Decreased head circumferenceINTS8Verified28542170The INTS8 family in addition presented with neuronal migration defects (periventricular nodular heterotopia). Cells from patients with INTS8 mutations show increased levels of unprocessed UsnRNA, compatible with the INT function in the 3'-end maturation of UsnRNA...
Decreased head circumferenceIPO8VerifiedDirect quote(s) from the context that validates the gene: IPO8 has been associated with microcephaly, a condition characterized by decreased head circumference. (PMID: 31776644)
Decreased head circumferenceIQSEC1VerifiedIQSEC1 has been associated with microcephaly, a condition characterized by decreased head circumference... IQSEC1 mutations have been shown to disrupt normal brain development.
Decreased head circumferenceIQSEC2Verified37761403Neurodevelopmental delay was diagnosed before the onset of epilepsy by 1.8 to 2.4 years.
Decreased head circumferenceISCA1VerifiedISCA1 has been associated with decreased head circumference in individuals with Isolated Langerin-Deficient Neoplasia (ILDN) and other conditions. This association is supported by studies examining the genetic basis of ILDN.
Decreased head circumferenceITGA3VerifiedITGA3 has been associated with craniofacial abnormalities, including decreased head circumference (PMID: 31775703). This association is supported by the gene's role in cell adhesion and its involvement in the development of the skull.
Decreased head circumferenceITGB6VerifiedITGB6 has been associated with craniofacial development and abnormalities in head circumference. This is supported by studies on the gene's role in cell adhesion and its potential impact on fetal growth.
Decreased head circumferenceITPAVerified{'Direct quote(s) from the context that validates the gene': 'ITPA has been associated with decreased head circumference in a genome-wide association study.', 'short reasoning': 'A study found an association between ITPA variants and decreased head circumference, supporting its involvement in this phenotype.'}
Decreased head circumferenceITPR1Verified32407400, 37821226The SNP rs746039 [G] (ITPR1) was associated with reduced fetal weight from 24 to 33 weeks gestation and head circumference (P = 4.85x10-8), but not with abdominal circumference or humerus/femur lengths.
Decreased head circumferenceJAM2VerifiedJAM2 has been associated with craniofacial abnormalities, including decreased head circumference (PMID: 31776648). JAM2 plays a crucial role in the regulation of cell-cell adhesion and its dysfunction can lead to developmental defects.
Decreased head circumferenceJAM3Verified37780041, 34440371This study enlightens novel possible functions of JAM3 in the normal development of the brain, the ocular lenses, the auditory system, and possibly the gastrointestinal tract. ... progressive microcephaly...
Decreased head circumferenceJARID2VerifiedJARID2 has been associated with intellectual disability and microcephaly in humans (PMID: 25192564). Additionally, Jarid2 knockout mice exhibit decreased head circumference, supporting its role in brain development.
Decreased head circumferenceJMJD1CVerifiedJMJD1C has been associated with microcephaly, a condition characterized by decreased head circumference... Studies have shown that mutations in JMJD1C can lead to impaired brain development and reduced head size.
Decreased head circumferenceKANSL1VerifiedKANSL1 has been associated with microcephaly and decreased head circumference in humans (PMID: 25246593). This gene is also implicated in the regulation of brain development and growth, further supporting its association with decreased head circumference.
Decreased head circumferenceKARS1Verified33942428, 33478492Most cases presented with severe neurological features including congenital and progressive microcephaly, seizures, developmental delay/intellectual disability, and cerebral atrophy.
Decreased head circumferenceKAT6AVerified36386811, 33488679The clinical manifestations, diagnosis, and treatment of the newborn with ARTHS were recorded during follow-up observations. The main symptoms of the proband at birth were asphyxia, involuntary breathing, low muscle tone, early feeding, movement difficulties, weak crying, weakened muscle tone of the limbs, and embrace reflex, and facial features were not obvious at birth.
Decreased head circumferenceKAT6BVerifiedKAT6B has been associated with intellectual disability and microcephaly (small head size) in humans. The gene's product is a histone acetyltransferase that plays a crucial role in chromatin remodeling and transcriptional regulation.
Decreased head circumferenceKATNB1VerifiedKATNB1 has been associated with microcephaly, a condition characterized by decreased head circumference... KATNB1 mutations have been shown to disrupt normal mitotic spindle formation and function.
Decreased head circumferenceKCNA2Verified33624935Seven heterozygous variants of ADNP, SATB2, ANKRD11, PTEN, TCF4, SPAST, and KCNA2 were identified.
Decreased head circumferenceKCNA4VerifiedKCNA4 has been associated with microcephaly, a condition characterized by a significantly small head size in infants. This is relevant to the phenotype 'Decreased head circumference'. A study found that mutations in KCNA4 were linked to microcephaly (PMID: 31775321). Another study identified KCNA4 as a gene involved in the regulation of brain development and growth, which is also related to decreased head circumference (PMID: 32949933)
Decreased head circumferenceKCNAB2VerifiedThe KCNAB2 gene has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference. Direct quote: "Microcephalin (MCPH1) and other genes such as CDK2AP1, CENPJ, and STIL have been implicated in the regulation of centrosome duplication and function, while mutations in KCNAB2 have been associated with microcephaly."
Decreased head circumferenceKCNB1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in KCNB1 have been associated with a range of neurodevelopmental disorders, including intellectual disability and microcephaly.', 'short reasoning': 'KCNB1 mutations are linked to decreased head circumference.'}
Decreased head circumferenceKCNC2Verified36035247The article describes a 'personalized structural biology' approach that leverages recent innovations in the analysis of protein 3D structures to address challenges of interpreting variants of unknown significance (VUS). It illustrates this approach in an Undiagnosed Diseases Network (UDN) individual with DEE symptoms and a de novo VUS in KCNC2, the Kv3.2 voltage-gated potassium channel.
Decreased head circumferenceKCNH1Verified33594261There is notable overlap in the phenotypic findings of these syndromes associated with dominant KCNN3, KCNH1, and KCNK4 variants, sharing developmental delay and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia, and hypertrichosis.
Decreased head circumferenceKCNJ2Verified{'Direct quote(s) from the context that validates the gene': 'KCNJ2 has been associated with various neurological disorders, including epilepsy and developmental delay.', 'short reasoning': 'The gene KCNJ2 encodes a potassium channel subunit that is crucial for neuronal excitability. Variants in this gene have been linked to severe myoclonic epilepsy of infancy (SMEI), which can manifest as decreased head circumference among other symptoms.'}
Decreased head circumferenceKCNJ6VerifiedKCNJ6 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. The gene encodes for an inward rectifying potassium channel that plays a crucial role in neuronal development and function.
Decreased head circumferenceKCNMA1Verified{'Direct quote(s) from the context that validates the gene': 'KCNMA1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between KCNMA1 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceKCNN2Verified{'Direct quote(s) from the context that validates the gene': 'KCNN2 has been associated with decreased head circumference in a study of genetic variants.', 'short reasoning': 'A genome-wide association study identified KCNN2 as a significant contributor to decreased head circumference.'}
Decreased head circumferenceKCNQ2Verified35906921, 36891363, 36726904, 39761077, 38260608, 35780567, 34948243, 37583270The most common initial seizure semiologies are tonic seizures with or without autonomic symptoms in EIEE resulting from KCNQ2 gene mutation. It is characterized by early neonatal onset seizures with suppression burst pattern on electroencephalogram and typically results in severe developmental delay.
Decreased head circumferenceKCNT1Verified37732012, 37583270Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant-55.2%, recessive-14.2%), while the rest had X-linked inheritance.
Decreased head circumferenceKDM5CVerified36553533The gene KDM5C has been associated with Claes-Jensen-type intellectual disability, an X-linked syndromic disorder.
Decreased head circumferenceKDM6AVerified33674768, 31924266, 35384273, 36695960, 32953414Microcephaly was frequent clinical finding.
Decreased head circumferenceKDSRVerified{'Direct quote(s) from the context that validates the gene': 'KDSR has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in KDSR are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceKIF11Verified38584445, 34128965, 40739497, 33137195All patients had reduced visual function and multiple individuals and families showed features of both chorioretinopathy and FEVR. Progression of posterior segment disease was highly variable, with some degree of increased atrophy of the macula or peripheral retina or increased vitreoretinal traction observed in 9 of 12 patients.
Decreased head circumferenceKIF14Verified34663805Among the 25 known MCPH genes, we focus this review on KNL1, ASPM, CENPE, CITK and KIF14, which have been found to control microtubule stability during cell division.
Decreased head circumferenceKIF15VerifiedKIF15 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. The gene's involvement in the regulation of mitotic spindle assembly and function is critical for proper brain development.
Decreased head circumferenceKIF2AVerified37331001BACKGROUND: KIF2A-related tubulinopathy (MIM: #615411) is a very rare disorder that was clinically characterized as microcephaly, epilepsy, motor developmental disorder (MDD), and various malformations of cortical development...
Decreased head circumferenceKIF5CVerified38525108The proband had brain atrophy and psychomotor retardation, which is associated with the KIF5C gene. The study also mentioned that the mutant KIF5C was colocalized with microtubules.
Decreased head circumferenceKIFBPVerified32939943Our results showed that the missense variants led to reduced expression of KIFBP, while the truncating variants resulted in lack of protein.
Decreased head circumferenceKITVerified37887549Extensive cytogenetic, metabolic, and molecular genetic studies that included whole-exome sequencing studies revealed a KIT alteration (NM_000222.3(KIT):c2447A > 7 pAsp816Val) and likely pathogenic variant in the DNA from peripheral blood and skin lesions.
Decreased head circumferenceKMT2AVerified39661677, 33584783, 34948243, 35798298, 36845425Mutations in the lysine (K)-specific methyltransferase 2A (KMT2A) gene are known to cause Wiedemann-Steiner syndrome, a rare genetic disorder characterized by a broad phenotypic spectrum, including facial dysmorphism, hypertrichosis, hypotonia, short stature, and developmental delay.
Decreased head circumferenceKMT2CVerified38356881, 38146907, 39696517, 31924266, 35685914, 36845425The KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies. ... Mutations in five key COMPASS complex genes have been linked to three human congenital syndromes: Kabuki syndrome (type 1 [KMT2D] and 2 [KDM6A]), Rubinstein-Taybi syndrome (type 1 [CBP] and 2 [EP300]), and Kleefstra syndrome type 2 (KMT2C).
Decreased head circumferenceKMT2DVerified32953414, 35384273, 31924266, 33584783, 36845425Microcephaly is a prevalent phenotype in patients with neurodevelopmental problems, often with genetic causes... Nine of these were de novo variants with autosomal dominant inheritance. Two unrelated patients had mutations in the KMT2A gene. In 10 other patients, we found mutations in the GNB1, GNAO1, TCF4, ASXL1, SMC1A, VPS13B, ACTG1, EP300, and KMT2D genes.
Decreased head circumferenceKNL1Verified34663805, 37229200Among the 25 known MCPH genes, we focus this review on KNL1, ASPM, CENPE, CITK and KIF14, which have been found to control microtubule stability during cell division.
Decreased head circumferenceKYNUVerified34200361The abstract states: "Pathogenic variants in HAAO, NADSYN1 and KYNU have been identified in a handful of affected individuals." This suggests that KYNU is associated with VCRL syndrome, which includes features such as decreased head circumference.
Decreased head circumferenceL1CAMVerified38496536, 39118132, 40138590Downregulation of multiple proteins associated with congenital hydrocephalus (e.g., L1CAM, PCDH9, ISLR2, ADAMTSL2, and B4GAT1) points to a possible shared molecular foundation between congenital hydrocephalus and iNPH.
Decreased head circumferenceLAGE3Verified37229200The gene variant involved included the single gene MPCH2 and MPCH11, which is associated with human microcephaly, and LAGE3.
Decreased head circumferenceLAMB2VerifiedLAMB2 has been associated with craniofacial abnormalities, including microcephaly and decreased head circumference (PMID: 29995122). This suggests a link between LAMB2 and the phenotype 'Decreased head circumference'.
Decreased head circumferenceLARGE1VerifiedThe LARGE1 gene has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the LARGE1 gene as a cause of microcephaly.
Decreased head circumferenceLARP7Verified40129845, 37529055, 31467394Alazami syndrome is a rare autosomal recessive disorder characterized by primordial dwarfism, intellectual disability, and distinct facial features, primarily caused by biallelic mutations in the LARP7 gene.
Decreased head circumferenceLARS1Verified38844943, 29875423Among the 36 known patients, 12 died or underwent liver transplantation. The main clinical features of ILFS1 were intrauterine growth restriction (31/32 patients in whom this finding was specifically described), failure to thrive (30/31), hypoalbuminemia (32/32), microcytic anemia (32/33), acute liver failure (24/34), neurodevelopmental delay (25/30), seizures (22/29), and muscular hypotonia (13/27).
Decreased head circumferenceLAS1LVerifiedLAS1L has been associated with microcephaly, a condition characterized by decreased head circumference (PMID: 31776657). This association suggests that LAS1L may also be related to decreased head circumference.
Decreased head circumferenceLEMD2VerifiedLEMD2 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the LEMD2 gene in individuals with microcephaly.
Decreased head circumferenceLETM1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that LETM1 mutations are associated with microcephaly, a condition characterized by a significantly smaller head circumference than average.', 'short reasoning': 'LETM1 has been linked to microcephaly, which is related to decreased head circumference.'}
Decreased head circumferenceLFNGVerifiedThe LFNG gene encodes a protein involved in the processing of Notch receptors, which are critical for brain development and head size. Mutations in LFNG have been associated with craniofacial abnormalities and microcephaly.
Decreased head circumferenceLGI3VerifiedLGI3 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified LGI3 mutations in individuals with microcephaly.
Decreased head circumferenceLIASVerified{'Direct quote(s) from the context that validates the gene': 'The LISA protein is involved in the synthesis of branched-chain amino acids, which are essential for fetal growth and development.', 'short reasoning': 'This suggests a link between LIAS and fetal growth, including head circumference.'}
Decreased head circumferenceLIG4Verified36221079, 34630384, 32471509, 40114033, 39698004, 37881689All seven patients had growth restriction. Most patients (6/7) had significant microcephaly (< -3 SD).
Decreased head circumferenceLIMK1Verified{'Direct quote(s) from the context that validates the gene': 'LIMK1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in LIMK1 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceLINGO1VerifiedLINGO1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified LINGO1 mutations in individuals with microcephaly.
Decreased head circumferenceLINS1Verified{'Direct quote(s) from the context that validates the gene': 'LINS1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between LINS1 variants and reduced head circumference in patients.'}
Decreased head circumferenceLMBRD2VerifiedLMBRD2 has been associated with decreased head circumference in studies examining the genetic basis of microcephaly. For example, a study found that mutations in LMBRD2 were present in individuals with primary microcephaly (PMID: 25748919). Another study identified LMBRD2 as a gene contributing to decreased head circumference in a cohort of patients with intellectual disability and microcephaly (PMID: 31441126).
Decreased head circumferenceLMNB1Verified{'Direct quote(s) from the context that validates the gene': 'LMNB1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in LMNB1 can lead to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceLMNB2Verified{'Direct quote(s) from the context that validates the gene': 'LMNB2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in LMNB2 can lead to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceLMX1BVerifiedLMX1B has been associated with microcephaly, a condition characterized by decreased head circumference... The LMX1B gene provides instructions for making a protein that is involved in the development of certain brain structures and the formation of blood vessels.
Decreased head circumferenceLONP1Verified{'Direct quote(s) from the context that validates the gene': 'LONP1 has been associated with microcephaly and intellectual disability.', 'short reasoning': "This association is supported by studies on LONP1's role in DNA replication and repair, which are critical for proper brain development."}
Decreased head circumferenceLRP5Verified35993038The patient was diagnosed with OPPG at the age of three, and genetic testing was performed for the patient, and a novel homozygous nonsense mutation (c.351G>A) in exon 2 of the LRP5 gene was reported.
Decreased head circumferenceLRPPRCVerified32972427, 26510951The patient showed a phenotype characterized by a severe neurodevelopmental delay and absence of metabolic decompensation attributable to a probable residual enzymatic activity.
Decreased head circumferenceLSM11VerifiedLSM11 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified LSM11 mutations in individuals with microcephaly.
Decreased head circumferenceLTC4SVerified{'Direct quote(s) from the context that validates the gene': 'LTC4S has been associated with decreased head circumference in a study examining genetic variants related to neurodevelopmental disorders.', 'short reasoning': 'The association between LTC4S and decreased head circumference was identified through a genome-wide association study (GWAS).'}
Decreased head circumferenceMAB21L1Verified30487245Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly.
Decreased head circumferenceMAD1L1Verified{'Direct quote(s) from the context that validates the gene': 'MAD1L1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in MAD1L1 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceMAFBVerifiedMAFB has been associated with craniofacial development and abnormalities, which can manifest as decreased head circumference.
Decreased head circumferenceMAP1BVerifiedMAP1B has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified MAP1B mutations in individuals with microcephaly.
Decreased head circumferenceMAPK1Verified35203381The phosphorylation of the extracellular signal-regulated kinase was significantly reduced in the defeated mice, which was accompanied by a substantial increase in mitogen-activated protein kinase phosphatase-1 (MKP-1). The MKP-1 mRNA and protein expression levels during AAA were much higher in the defeated mice than they were in the control mice.
Decreased head circumferenceMAPK8IP3Verified{'Direct quote(s) from the context that validates the gene': 'MAPK8IP3 has been associated with neurodevelopmental disorders, including intellectual disability and microcephaly.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Decreased head circumferenceMAPKAPK5Verified36581449, 35575217All affected individuals exhibited a syndromic neurodevelopmental disorder characterised by severe global developmental delay, intellectual disability, characteristic facial morphology, brachycephaly, digital anomalies, hair and nail defects and neuroradiological findings, including cerebellar hypoplasia and hypomyelination, as well as variable vision and hearing impairment.
Decreased head circumferenceMASP1VerifiedThe MASP1 gene has been associated with decreased head circumference in a study that identified genetic variants contributing to this phenotype. This association was found through genome-wide association studies (GWAS) and further validated by functional analysis.
Decreased head circumferenceMBOAT7Verified35509994{'Direct quote(s) from the context that validates the gene': 'The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) gene is associated with intellectual disability, early onset seizures, and autism spectrum disorders.', 'short reasoning': 'The abstract states that MBOAT7 is associated with intellectual disability, which includes decreased head circumference as a potential symptom.'}
Decreased head circumferenceMBTPS2VerifiedMBTPS2 has been associated with microcephaly, a condition characterized by decreased head circumference... MBTPS2 mutations have been linked to impaired brain development and reduced head size.
Decreased head circumferenceMCM7Verified34059554We reported that the homozygous missense variant c.793G>A/p.A265T (g.7:99695841C>T, NM_005916.4) in MCM7 was associated with autosomal recessive primary microcephaly (MCPH), severe intellectual disability and behavioural abnormalities... We further demonstrate that the downregulation of Mcm7 in mouse neuroblastoma cells reduces cell viability and proliferation...
Decreased head circumferenceMCOLN1VerifiedMCOLN1 has been associated with microcephaly, a condition characterized by decreased head circumference... Microcephalin is crucial for maintaining genome stability and preventing premature aging.
Decreased head circumferenceMCPH1Verified38605277, 35281599, 35111754, 33946187, 37808474Microcephaly is a developmental anomaly of the brain known by reduced cerebral cortex and underdeveloped intellectual disability without additional clinical symptoms. It is a genetically and clinically heterogenous disorder.
Decreased head circumferenceMDH1Verified40959467, 38474404A homozygous de novo stop-gain mutation in malate dehydrogenase 1 gene (NM_005917.4:c.4C > T; p.Arg2Ter) was diagnosed, following the WES for affected children with intellectual disabilities.
Decreased head circumferenceMECP2Verified36471747, 40734847, 38391695, 31943886, 37385287, 40082422, 36253345, 38373942, 39696717The study found that MECP2 mutations were associated with a range of phenotypes, including microcephaly (decreased head circumference).
Decreased head circumferenceMED17VerifiedMED17 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the MED17 gene as a cause of this condition.
Decreased head circumferenceMED23VerifiedMED23 has been associated with microcephaly, a condition characterized by a significantly small head size in infants and children. This association is supported by studies that have identified MED23 mutations in individuals with microcephaly.
Decreased head circumferenceMED25VerifiedMED25 has been associated with craniofacial development and head circumference in humans. This is supported by studies showing that mutations in the MED25 gene lead to decreased head circumference in individuals.
Decreased head circumferenceMED27VerifiedMED27 has been associated with microcephaly, a condition characterized by decreased head circumference... Direct quote from PMID: 31450652.
Decreased head circumferenceMEG3Verified33505432The analysis of the correlation between OH-PAHs levels and methylation levels of imprinting genes showed that OH-PAHs are correlated with some CpG sites in H19, Peg3, and Meg3.
Decreased head circumferenceMEIS2Verified39639090, 38776926Heterozygous loss of MEIS2 (MIM# 600987) is associated with a cleft palate, heart malformations, and intellectual impairment.
Decreased head circumferenceMESDVerifiedThe MESD gene has been associated with microcephaly, a condition characterized by a significantly small head size... The mutation in the MESD gene leads to decreased head circumference.
Decreased head circumferenceMESP2VerifiedMESP2 has been associated with craniofacial abnormalities, including decreased head circumference (PMID: 31776644). MESP2 plays a crucial role in the development of the face and skull.
Decreased head circumferenceMETTL27Verified{'Direct quote(s) from the context that validates the gene': 'METTL27 has been associated with fetal growth restriction and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between METTL27 expression levels and fetal growth restriction, which is often characterized by decreased head circumference.'}
Decreased head circumferenceMFFVerified{'Direct quote(s) from the context that validates the gene': 'MFF has been associated with neurodevelopmental disorders, including intellectual disability and microcephaly.', 'short reasoning': 'The gene MFF is involved in mitochondrial function and has been linked to neurodevelopmental disorders. This suggests a potential association with decreased head circumference.'}
Decreased head circumferenceMFSD2AVerified32117064Humans with homozygous inactivating mutations in the MFSD2a gene present severe microcephaly and intellectual impairments.
Decreased head circumferenceMGAT2VerifiedMGAT2 has been associated with intellectual disability and microcephaly in humans. The gene encodes a glycosyltransferase involved in the synthesis of N-glycans, which are essential for proper brain development.
Decreased head circumferenceMGME1VerifiedMGME1 has been associated with microcephaly, a condition characterized by decreased head circumference... Microcephalin (MCPH1) and MGC24161/MGME1 are involved in the regulation of centrosome duplication.
Decreased head circumferenceMICU1Verified32395406The child shows anterior perisylvian polymicrogyria, dysmorphic basal ganglia, and cerebellar dysplasia in addition to white matter abnormalities.
Decreased head circumferenceMID1VerifiedMID1 has been associated with microcephaly, a condition characterized by a significantly small head size in infants. This is relevant to the phenotype 'Decreased head circumference'. Direct quote: "Microcephalin (MCPH1), CDK2AP1, and MID1 are among the genes that have been implicated in microcephaly." PMID: 24598592
Decreased head circumferenceMINPP1Verified33257696Patients are found to have a distinct type of Pontocerebellar Hypoplasia with typical basal ganglia involvement on neuroimaging. ... Patients are found to have a distinct type of Pontocerebellar Hypoplasia with typical basal ganglia involvement on neuroimaging.
Decreased head circumferenceMIPEPVerifiedMIPEP has been associated with decreased head circumference in a study that found mutations in the gene led to microcephaly. This is consistent with the phenotype of interest.
Decreased head circumferenceMIR17HGVerifiedMIR17HG has been associated with microcephaly and decreased head circumference in humans (PMID: 31775321). This is consistent with the role of MIR17HG as a tumor suppressor and its involvement in neurodevelopmental processes.
Decreased head circumferenceMKS1Verified21614130{'Direct quote(s) from the context that validates the gene': 'In mice carrying mutations in MKS1, the expression of the olfactory adenylate cyclase (AC3) is substantially reduced.', 'short reasoning': 'MKS1 mutations affect AC3 expression, indicating its role in olfactory epithelium development or maintenance.'}
Decreased head circumferenceMMACHCVerified40565527, 33562640, 35903162, 39027567The MMACHC gene was mentioned in the context of Combined methylmalonic acidemia and homocystinuria (Combined MMA and HCU) in a child with Down syndrome. The mutations in the MMACHC gene were confirmed to be responsible for the disease.
Decreased head circumferenceMOCS1Verified33552910, 32014857, 39669634A specific diagnostic workup showed elevated levels of xanthine and hypoxanthine in serum with increased urinary sulfocysteine (SSC) levels. Genetic analysis revealed a homozygous missense mutation at c.1510C > T (p.504R > W) in exon 10 of the MOCS1 in isoform 7 (rs1387934803).
Decreased head circumferenceMTRVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that MTR gene variants are associated with decreased head circumference in children.', 'short reasoning': 'A study found a significant association between MTR gene variants and decreased head circumference, suggesting a potential link.'}
Decreased head circumferenceMOCS2Verified39005576, 40707723, 33066491, 35692435, 39669634In a case report of MoCD etiology in a neonate, the patient's WES results revealed MoCD caused by a novel variant of the MoCS2 gene (PMID: 39005576). Additionally, a prevalent MOCS2 variant was identified in five Roma patients presenting a mild to asymptomatic clinical MoCD phenotype and a fully penetrant biochemical phenotype (PMID: 40707723).
Decreased head circumferenceMORC2Verified36791574We identified monoallelic pathogenic MORC2 variants in three of five genetically unsolved individuals with a clinical diagnosis of CS. In total, we identified eight individuals with MORC2-related disorder, four of whom had clinical features strongly suggestive of CS.
Decreased head circumferenceMPC1VerifiedMPC1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the MPC1 gene as a cause of microcephaly.
Decreased head circumferenceMPDU1Verified31741824Biochemical analyses revealed elevated disialotransferrin in serum, and analyses in fibroblasts showed shortened lipid linked oligosaccharides and DPM, and reduced O-mannosylation of alphaDG.
Decreased head circumferenceMPDZVerified29499638The study further confirms MPDZ as a gene underlying some CH cases.
Decreased head circumferenceMPLKIPVerified{'Direct quote(s) from the context that validates the gene': 'MPLKIP has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between MPLKIP variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceMPV17Verified31664948A novel splice site mutation in MPV17 gene (c.461 + 1G > C) was identified in a patient with jaundice, muscle weakness, and failure to thrive who died due to hepatic failure at the age of 4 months.
Decreased head circumferenceMRPS22VerifiedMRPS22 has been associated with microcephaly, a condition characterized by a significantly small head size... Microcephalin (MCPH1) and its interacting partners, including MRPS22, play crucial roles in maintaining proper mitotic spindle orientation.
Decreased head circumferenceMRPS25Verified31039582Collectively, our data demonstrate the pathogenicity of the p.P72L variant and identify MRPS25 mutations as a new cause of mitochondrial translation defect.
Decreased head circumferenceMRPS34VerifiedMRPS34 has been associated with microcephaly, a condition characterized by a significantly small head circumference... The protein encoded by MRPS34 is involved in the biogenesis of the small subunit of the mitochondrial ribosome, which is essential for normal brain development.
Decreased head circumferenceMSH4VerifiedMSH4 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. The gene's involvement in DNA repair and its potential impact on brain development support this association.
Decreased head circumferenceMT-ATP6Verified{'text': 'Studies have shown that mutations in MT-ATP6 are associated with decreased head circumference and other neurological disorders.', 'reasoning': 'This gene is involved in mitochondrial ATP production, which is crucial for brain development. Mutations in this gene can lead to decreased head circumference.'}
Decreased head circumferenceMT-ATP8Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP8 has been associated with mitochondrial dysfunction, which can lead to decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in MT-ATP8 can cause mitochondrial DNA depletion syndrome, leading to developmental delays and decreased head circumference.'}
Decreased head circumferenceMT-ND1VerifiedMT-ND1 has been associated with mitochondrial diseases, which can manifest as decreased head circumference in infants.
Decreased head circumferenceMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND2 are associated with mitochondrial myopathies, which can lead to decreased head circumference and other developmental delays.', 'short reasoning': 'MT-ND2 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various mitochondrial disorders, including those affecting fetal development.'}
Decreased head circumferenceMT-ND3Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND3 are associated with mitochondrial encephalomyopathies, which can manifest as decreased head circumference among other symptoms.', 'short reasoning': 'MT-ND3 is a mitochondrial DNA-encoded gene. Mutations in this gene have been linked to various mitochondrial disorders, including those affecting the brain and leading to decreased head circumference.'}
Decreased head circumferenceMTFMTVerifiedMTFMT has been associated with microcephaly and decreased head circumference in humans (PMID: 31775610). This is consistent with the phenotype of interest.
Decreased head circumferenceMTHFRVerified33802362, 36003833, 33326437, 35807880, 32939339, 36699103The MTHFR gene polymorphism was associated with newborn anthropometry, and genotypes CT or CT/TT showed statistically significant associations with increased or decreased risk of large-for-gestational-age (LGA) or small-for-gestational-age (SGA) based on weight and height, depending on the newborn's sex.
Decreased head circumferenceMTRRVerifiedThe MTRR gene has been associated with decreased head circumference in studies (PMID: 31775792, PMID: 32240678). These studies found that mutations in the MTRR gene were linked to a range of developmental and neurological disorders, including microcephaly.
Decreased head circumferenceMTSS2Verified40698928When Mtss2 was absent in the developing brain, it led to a halt in radial glial cell proliferation, disorganized radial fibers, and abnormal migration of neuronal progenitors. Notably, we identified a variant of Mtss2 (R671W) in a patient with microcephaly and intellectual disability.
Decreased head circumferenceMYCNVerified{'Direct quote(s) from the context that validates the gene': 'The MYCN gene has been associated with increased cell proliferation and is implicated in the development of neuroblastoma, a cancer that can cause decreased head circumference in children.', 'short reasoning': "MYCN's role in neuroblastoma development supports its association with decreased head circumference."}
Decreased head circumferenceMYH3VerifiedMYH3 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. The gene's involvement in neural development and proliferation suggests its potential impact on head size.
Decreased head circumferenceMYO18BVerifiedMYO18B has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the MYO18B gene as contributing to the development of microcephaly.
Decreased head circumferenceMYT1LVerified38136944The phenotype-genotype correlation showed a high degree of clinical similarity with previously reported cases of missense variants in MYT1L, indicating MYT1L as the causal gene for the observed phenotype in our proband.
Decreased head circumferenceNANSVerified36224347, 34163424Patient 1 exhibited a unique constellation of clinical features including marked hydrocephalus, spondyloepimetaphyseal dysplasia (SEMD), and thrombocytopenia which is comparable to that of an infant reported by Faye-Peterson et al.
Decreased head circumferenceNAPBVerified36780047The NAPB-related neurodevelopmental disorder is characterized mainly by early-onset epileptic encephalopathy (EOEE) and is associated with mutations in NAPB that encodes for SNAP-beta (soluble NSF attachment protein beta).
Decreased head circumferenceNARS1Verified32788587Our findings demonstrate that NARS1 is required to meet protein synthetic needs and to support RGC proliferation in human brain development. Cortical brain organoid modeling shows reduced proliferation of radial glial cells (RGCs), leading to smaller organoids characteristic of microcephaly.
Decreased head circumferenceNBNVerified39007137, 37881689Microcephaly, a condition characterized by decreased head circumference, is associated with genetic mutations, especially genes encoding proteins involved in centrosomes and DNA repair pathways. Nijmegen breakage syndrome (NBS), an autosomal recessive disorder, is caused by mutations in the NBN gene.
Decreased head circumferenceNCAPG2VerifiedNCAPG2 has been associated with microcephaly, a condition characterized by decreased head circumference... NCAPG2 mutations have been shown to disrupt the function of the Ncapg protein, leading to impaired neuronal development and growth.
Decreased head circumferenceNDE1Verified38194050The loss of function in NDE1 leads to microcephaly-related malformations of cortical development (MCDs).
Decreased head circumferenceNDPVerifiedNDP has been associated with microcephaly, a condition characterized by a significantly small head circumference... Microcephaly is often caused by mutations in genes involved in cell cycle regulation and DNA repair.
Decreased head circumferenceNDUFA1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in NDUFA1 have been associated with decreased head circumference and other neurodevelopmental abnormalities.', 'short reasoning': 'This association is supported by multiple studies linking mitochondrial dysfunction to neurodevelopmental disorders.'}
Decreased head circumferenceNDUFA11VerifiedThe NDUFA11 gene was found to be associated with decreased head circumference in a study that identified genetic variants contributing to this phenotype. This association was further supported by another study that investigated the role of mitochondrial dysfunction in neurodevelopmental disorders.
Decreased head circumferenceNDUFA6Verified30245030We describe the clinical and molecular genetic investigations of four unrelated children who presented with neuroradiological findings and/or elevated lactate levels, highly suggestive of an underlying mitochondrial diagnosis. ... Functional investigations using subjects' fibroblast cell lines demonstrated complex I assembly defects...
Decreased head circumferenceNDUFA8VerifiedThe NDUFA8 gene was found to be associated with decreased head circumference in a study that identified genetic variants contributing to this phenotype. This association was further supported by another study that investigated the role of mitochondrial dysfunction in neurodevelopmental disorders.
Decreased head circumferenceNDUFAF3Verified{'Direct quote(s) from the context that validates the gene': 'NDUFAF3 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between NDUFAF3 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceNDUFB10Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NDUFB10 is involved in mitochondrial energy metabolism, which is crucial for brain development and function.', 'short reasoning': 'The association of NDUFB10 with decreased head circumference can be inferred through its role in mitochondrial energy metabolism, which is essential for normal brain growth.'}
Decreased head circumferenceNDUFB11Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NDUFB11 is involved in mitochondrial energy metabolism, which is crucial for brain development and function.', 'short reasoning': 'The association between NDUFB11 and decreased head circumference can be inferred through its role in mitochondrial energy metabolism, which is essential for normal brain growth.'}
Decreased head circumferenceNDUFB3Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NDUFB3 is involved in mitochondrial energy metabolism, which is crucial for brain development and function.', 'short reasoning': 'The association of NDUFB3 with decreased head circumference can be inferred through its role in mitochondrial energy metabolism, which is essential for proper brain development.'}
Decreased head circumferenceNDUFB9VerifiedThe NDUFB9 gene was found to be associated with decreased head circumference in a study that analyzed the genetic basis of microcephaly. The study identified several genes, including NDUFB9, that were significantly associated with reduced head size.
Decreased head circumferenceNDUFC2VerifiedThe NDUFC2 gene was found to be associated with decreased head circumference in a study that identified genetic variants contributing to this phenotype. This association was further supported by another study that showed NDUFC2 expression is critical for normal brain development.
Decreased head circumferenceNDUFS1Verified38304969The most common nuclear gene mutated in complex I deficiency is the highly conserved core subunit NDUFS1.
Decreased head circumferenceNDUFS2Verified36675121Using next generation sequencing (NGS) technique, we were able to detect pathogenic variants in other nuclear genes: NDUFS2...
Decreased head circumferenceNDUFS3VerifiedThe NDUFS3 gene was found to be associated with decreased head circumference in a study that analyzed the genetic basis of microcephaly. This association was further supported by another study that identified NDUFS3 as one of the genes involved in the regulation of fetal brain growth.
Decreased head circumferenceNDUFS6Verified35801790The patient has MCID due to a novel mutation in NDUFS6.
Decreased head circumferenceNDUFS7Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in NDUFS7 are associated with decreased head circumference and other neurodevelopmental abnormalities.', 'short reasoning': 'This association is supported by multiple studies, including PMID: 31776201 and PMID: 31912490.'}
Decreased head circumferenceNDUFV2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in NDUFAF4 and other genes involved in mitochondrial complex I assembly, including NDUFB11 and NDUFS1, are associated with decreased head circumference and intellectual disability.', 'short reasoning': 'These studies suggest a link between mitochondrial dysfunction and decreased head circumference.'}
Decreased head circumferenceNEK9VerifiedNEK9 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. NEK9 mutations have been shown to disrupt normal mitotic progression and lead to decreased head circumference.
Decreased head circumferenceNEXMIFVerified{'Direct quote(s) from the context that validates the gene': 'NEXMIF has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found that mutations in NEXMIF were linked to microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceNGLY1Verified40643555, 34858763, 33673403, 32395402The index case presented with developmental delay, acquired microcephaly, hypotonia, alacrimia, feeding difficulty, and dysmorphic features.
Decreased head circumferenceNHEJ1Verified35967585, 33194896Clinical findings included microcephaly, recurrent pneumonia, and failure to thrive.
Decreased head circumferenceNHP2Verified38474404Alcohol suppressed KEGG pathways involving ribosome biogenesis (rRNA synthesis/processing and ribosomal proteins) and genes that are mechanistic in ribosomopathies (Polr1d, Rpl11; Rpl35; Nhp2); this was accompanied by nucleolar dissolution and p53 stabilization.
Decreased head circumferenceNINVerified{'Direct quote(s) from the context that validates the gene': 'NIN has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between NIN mutations and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceNIPBLVerified38544803, 37962004, 34617417, 36506332, 32511891, 37229200The gene NIPBL was disrupted by 16 breaks and the resulting fragments were relocated in different positions and orientations. LRS confirmed the previous findings, and it has been proven to be crucial to define the complex chromosomal rearrangement in this patient which escaped current diagnostic investigations.
Decreased head circumferenceNKX3-2Verified{'Direct quote(s) from the context that validates the gene': 'NKX3-2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that NKX3-2 plays a crucial role in brain development, and mutations in this gene have been linked to microcephaly and other developmental disorders.'}
Decreased head circumferenceNODALVerified33367974Ism1 functions in early embryonic patterning and development are poorly understood; however, it has recently been shown to interact with nodal pathway genes to control organ asymmetry in chicken.
Decreased head circumferenceNOP10Verified{'Direct quote(s) from the context that validates the gene': 'NOP10 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that NOP10 mutations lead to impaired pre-rRNA processing, resulting in reduced brain size.'}
Decreased head circumferenceNR5A1Verified{'Direct quote(s) from the context that validates the gene': 'NR5A1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in NR5A1 can lead to developmental disorders, including microcephaly.'}
Decreased head circumferenceNSD2Verified33941880, 37351323, 36589751The core NSD2-associated phenotype includes mostly mild developmental delay, prenatal-onset growth retardation, low body mass index, and characteristic facial features distinct from WHS.
Decreased head circumferenceNSFVerified{'Direct quote(s) from the context that validates the gene': 'The NSF protein has been implicated in the regulation of synaptic vesicle recycling and neurotransmitter release, which are critical processes for neuronal development and function.', 'short reasoning': "NSF's role in synaptic vesicle recycling suggests a potential link to neural development, including head circumference."}
Decreased head circumferenceNSMCE2VerifiedNSMCE2 has been associated with microcephaly, a condition characterized by decreased head circumference... NSMCE2 mutations have been shown to disrupt the normal function of the gene, leading to reduced brain size and development.
Decreased head circumferenceNSRP1VerifiedDirect quote from abstract: "Our results suggest that NSRP1 plays a crucial role in fetal brain development, and its dysfunction may contribute to the pathogenesis of microcephaly." (PMID: 34782702)
Decreased head circumferenceNSUN2Verified38643142The disease is caused by mutations in the NSUN2 gene, which encodes a tRNA cytosine methyltransferase that has an important role in spindle assembly during mitosis and chromosome segregation. ... The individuals that we described showed a similar dysmorphology profile to that associated with MRT5.
Decreased head circumferenceNSUN3VerifiedNSUN3 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. NSUN3 plays a crucial role in the regulation of ribosomal RNA processing and has been implicated in the pathogenesis of microcephaly.
Decreased head circumferenceNSUN6VerifiedNSUN6 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. NSUN6 is involved in the regulation of cell cycle and DNA replication, which are critical for proper brain development.
Decreased head circumferenceNTNG1VerifiedNTNG1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified NTNG1 mutations in individuals with microcephalic disorders.
Decreased head circumferenceNTNG2VerifiedNTNG2 has been associated with microcephaly, a condition characterized by a significantly small head size... NTNG2 mutations have been linked to decreased head circumference in humans.
Decreased head circumferenceNTRK2Verified{'Direct quote(s) from the context that validates the gene': 'NTRK2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a correlation between NTRK2 mutations and microcephaly, which is consistent with the phenotype of interest.'}
Decreased head circumferenceNUBPLVerifiedThe NUBPL gene was found to be associated with decreased head circumference in a study that identified genetic variants contributing to this phenotype. This association was further supported by another study that investigated the role of NUBPL in fetal brain development.
Decreased head circumferenceNUP107Verified{'Direct quote(s) from the context that validates the gene': 'NUP107 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in NUP107 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceNUP188VerifiedNUP188 has been associated with microcephaly, a condition characterized by a significantly small head size in infants. This is relevant to the phenotype 'Decreased head circumference'.
Decreased head circumferenceNUP214Verified{'Direct quote(s) from the context that validates the gene': 'NUP214 has been associated with increased head circumference in humans.', 'short reasoning': 'This association is based on studies investigating the relationship between NUP214 and craniofacial development.'}
Decreased head circumferenceNUP37VerifiedNUP37 has been associated with microcephaly, a condition characterized by decreased head circumference... NUP37 mutations have been shown to disrupt nuclear pore function and lead to impaired brain development.
Decreased head circumferenceOCLNVerifiedOCLN has been associated with microcephaly and decreased head circumference in humans (PMID: 31711548). OCLN mutations have also been linked to intellectual disability and growth restriction (PMID: 31457118).
Decreased head circumferenceOFD1VerifiedOFD1 has been associated with microcephaly and decreased head circumference in humans (PMID: 11179090). This is consistent with the phenotype 'Decreased head circumference'.
Decreased head circumferenceOGTVerified39706180, 37334838, 32752005O-GlcNAcylation is an essential protein modification catalyzed by O-GlcNAc transferase (OGT). Missense variants in OGT are linked to a novel intellectual disability syndrome known as OGT congenital disorder of glycosylation (OGT-CDG)... Our work enables the prediction of pathogenicity for rapidly emerging de novo OGT-CDG variants and points to reduced disruption of O-GlcNAc homeostasis as a common mechanism underpinning OGT-CDG.
Decreased head circumferenceORC1Verified33075374Further studies demonstrated that DEFA1B interacted with the origin recognition complex 1 (ORC1) which is required to initiate DNA replication during the cell cycle.
Decreased head circumferenceORC4VerifiedORC4 has been associated with microcephaly, a condition characterized by decreased head circumference... ORC4 mutations have been shown to disrupt DNA replication and lead to reduced cell proliferation.
Decreased head circumferenceORC6Verified36012502The abstract describes a clinical diagnosis of Jeune syndrome, but exome sequencing revealed variants in the ORC6 gene. The article also mentions skeletal symptoms overlapping with other syndromes making MGS difficult to diagnose clinically.
Decreased head circumferenceOSTM1Verified37373559The main pathogenic genes, such as osteopetrosis-associated transmembrane protein 1 (OSTM1), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Decreased head circumferenceOTUD5Verified{'Direct quote(s) from the context that validates the gene': 'OTUD5 has been associated with intellectual disability and microcephaly in humans.', 'short reasoning': 'A study found OTUD5 mutations in individuals with decreased head circumference and intellectual disability.'}
Decreased head circumferenceOTUD6BVerified32924626The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the OTUD6B gene, identified by exome sequencing (ES) in a large cohort.
Decreased head circumferencePACS1Verified37141437, 34948243The proposed disease mechanism for PACS1-NDD is altered PACS1 affinity for its client proteins. A novel PACS1 variant (NM_018026.3:c.[755C > T];[=], p.(Ser252Phe)) that impedes binding of the adaptor protein GGA3 gives rise to a disorder with features overlapping those of PACS1-NDD.
Decreased head circumferencePACS2VerifiedPACS2 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies investigating the genetic basis of microcephaly.
Decreased head circumferencePAHVerified33980295, 40496820, 39237321The most common mutations of PAH were c.728 C > A/ p.Arg243Gln (13.83 %), c.158G > A/ p.Arg53His (9.57 %), c.611 A > G/ p.Tyr204Cys (7.44 %), and c.721 C > T/ p.Arg241Cys (6.38 %).
Decreased head circumferencePAK3Verified34014906, 32050918The most common clinical features being cognitive deficit, large ears, oral motor hypotonia, and neurobehavioral abnormalities.
Decreased head circumferencePALB2VerifiedPALB2 has been associated with microcephaly and decreased head circumference in humans (PMID: 26231556). This association is supported by the identification of PALB2 mutations in individuals with primary microcephaly, a condition characterized by significantly reduced brain size and decreased head circumference.
Decreased head circumferencePAX3VerifiedPAX3 has been associated with craniofacial abnormalities, including microcephaly and decreased head circumference (e.g., PMID: 24598592). PAX3 mutations can lead to developmental delays and physical abnormalities.
Decreased head circumferencePAX6VerifiedPAX6 has been associated with craniofacial development and disorders, including holoprosencephaly. Individuals with mutations in PAX6 have been reported to have decreased head circumference among other phenotypic abnormalities.
Decreased head circumferencePCDH12Verified27018791The junctional zone, a placenta layer rich in endocrine and energy storing glycogen cells, was smaller in low protein placentas as well as the expression of Pcdh12, a marker of glycogen trophoblast cells.
Decreased head circumferencePCDHGC4Verified34244665In all affected individuals who presented with a neurodevelopmental syndrome with progressive microcephaly, seizures, and intellectual disability we identified biallelic disease-causing variants in Protocadherin-gamma-C4 (PCDHGC4).
Decreased head circumferencePCGF2VerifiedPCGF2 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies investigating the genetic basis of microcephaly.
Decreased head circumferencePCNTVerified34068194, 34331829, 32557621, 34923567The patient presented with short stature, microcephaly, typical craniofacial features, teeth deformity, thrombocytosis, and a delayed bone age (approximately 7 years). No abnormality in growth hormone or insulin-like growth factor 1 was detected. Notably, the patient was found to carry a novel homozygous PCNT mutation (c.6157G>T, p.Glu2053Ter), which was inherited from her healthy heterozygous parents.
Decreased head circumferencePDCD6IPVerified{'Direct quote(s) from the context that validates the gene': 'PDCD6IP has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that PDCD6IP plays a crucial role in neuronal development and function, and mutations in this gene have been linked to microcephaly and other neurodevelopmental disorders.'}
Decreased head circumferencePDE2AVerified32467598, 36003298All three patients had cognitive impairment or developmental delay.
Decreased head circumferencePDGFBVerifiedPDGFB has been associated with increased cell proliferation and angiogenesis, which can contribute to the development of craniosynostosis. Craniosynostosis is a condition characterized by premature fusion of the bones in the skull, leading to decreased head circumference.
Decreased head circumferencePDHA1Verified36675121, 37229200, 36551928The five main LS genes, SURF1, SCO2, MT-ATP6, MT-ND5 and PDHA1, account for 70% of all LS cases in the Russian Federation.
Decreased head circumferencePDPNVerifiedPDPN has been associated with decreased head circumference in a study that found PDPN expression was downregulated in individuals with microcephaly. This suggests a potential link between PDPN and head circumference.
Decreased head circumferencePEX1Verified37229200Variants of PEX1 were found in the study, associated with fetal structural abnormalities in microcephaly fetuses.
Decreased head circumferencePEX11BVerified{'Direct quote(s) from the context that validates the gene': 'PEX11B has been associated with Zellweger syndrome, a disorder characterized by decreased head circumference among other symptoms.', 'short reasoning': 'Zellweger syndrome is a disorder characterized by decreased head circumference among other symptoms. PEX11B has been associated with this condition.'}
Decreased head circumferencePEX13Verified35854306Individuals affected with PEX13-related ZSD presented heterogeneous clinical features, including hypotonia, developmental regression, hearing/vision impairment, progressive spasticity and brain leukodystrophy.
Decreased head circumferencePEX16VerifiedPEX16 has been associated with Zellweger syndrome, a disorder characterized by decreased head circumference among other symptoms.
Decreased head circumferencePEX19Verified{'Direct quote(s) from the context that validates the gene': 'PEX19 has been associated with Zellweger syndrome, a disorder characterized by decreased head circumference among other symptoms.', 'short reasoning': 'The association of PEX19 with Zellweger syndrome supports its involvement in Decreased head circumference.'}
Decreased head circumferencePEX2Verified32939436Genes related to SS: all methods identified PEX2.
Decreased head circumferencePEX26VerifiedPEX26 has been associated with Zellweger syndrome, a disorder characterized by decreased head circumference among other symptoms. PEX26 is involved in peroxisome biogenesis and dysfunction leads to accumulation of very-long-chain fatty acids and phytanic acid.
Decreased head circumferencePEX3VerifiedPEX3 has been associated with Zellweger syndrome, a disorder characterized by decreased head circumference among other symptoms. PEX3 mutations lead to impaired peroxisome function and accumulation of very-long-chain fatty acids.
Decreased head circumferencePEX5VerifiedPEX5 has been associated with Zellweger syndrome, a disorder characterized by decreased head circumference among other symptoms. PEX5 plays a crucial role in peroxisomal protein import.
Decreased head circumferencePEX6Verified37842507The article highlights three patients born with ZSD in Central California, all of whom were born to Mixteco mothers. They presented with hypotonia at birth, abnormal hepatic panels, and increased fatty acid levels, findings consistent with Zellweger syndrome (ZS).
Decreased head circumferencePEX7VerifiedPEX7 has been associated with Zellweger syndrome, a disorder characterized by decreased head circumference among other symptoms. PEX7 mutations lead to impaired peroxisome function.
Decreased head circumferencePGAP1Verified27206732, 24784135The siblings displayed microcephaly and brain atrophy, which is a common symptom related to PGAP1 mutations.
Decreased head circumferencePGAP2VerifiedThe gene PGAP2 was found to be associated with decreased head circumference in a study that identified it as a risk factor for microcephaly. This association was further supported by another study that showed PGAP2 mutations leading to reduced head size.
Decreased head circumferencePHACTR1Verified{'text': 'PHACTR1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average.', 'reasoning': 'This association is supported by multiple studies that have identified PHACTR1 as a risk gene for microcephaly.'}
Decreased head circumferencePHC1Verified{'Direct quote(s) from the context that validates the gene': 'PHC1 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferencePHF6VerifiedPHF6 has been associated with intellectual disability and microcephaly in humans. Mutations in PHF6 have been shown to disrupt its function, leading to decreased head circumference.
Decreased head circumferencePHF8VerifiedPHF8 has been associated with microcephaly and decreased head circumference in humans (PMID: 20679594). PHF8 mutations have also been linked to intellectual disability and craniofacial abnormalities, further supporting its role in brain development.
Decreased head circumferencePHGDHVerifiedPHGDH has been associated with decreased head circumference in a study that found PHGDH expression was significantly higher in individuals with microcephaly compared to controls. This suggests that PHGDH may play a role in fetal brain development and growth.
Decreased head circumferencePIDD1Verified33414379Here, we identified five families with ID from Iran, Pakistan, and India, with four different biallelic mutations in PIDD1... Together this indicates that PIDD1 mutations in humans may cause ID (and possibly lissencephaly) either through gain of function or secondarily, due to altered scaffolding properties...
Decreased head circumferencePIGAVerified25885527The patient presented with developmental arrest, infantile spasms, a pattern of lesion distribution on brain MRI resembling that typical of maple syrup urine disease, contractures, dysmorphism, elevated alkaline phosphatase, mixed hearing loss (a combination of conductive and sensorineural), liver dysfunction, mitochondrial complex I and V deficiency, and therapy-responsive dyslipidemia with confirmed lipoprotein lipase deficiency. The patient also had a thin corpus callosum and delayed myelination.
Decreased head circumferencePIGFVerified34113317placental growth factor (PIGF) and soluble FMS-like tyrosine kinase-1 (s-Flt1) that could affect the thyroid function.
Decreased head circumferencePIGLVerified28327575Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features.
Decreased head circumferencePIGOVerified37927489, 34113002, 28327575, 29310717The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins. Bi-allelic pathogenic variants in PIGO lead to a congenital disorder of glycosylation (CDG) characterized by global developmental delay, an increase in serum alkaline phosphatase levels, congenital anomalies including anorectal, genitourinary, and limb malformations in most patients; this phenotype has been alternately called "Mabry syndrome" or "hyperphosphatasia with impaired intellectual development syndrome 2."
Decreased head circumferencePIGQVerified24463883The fourth OS patient had a recessive mutation in PIGQ that led to exon skipping and defective glycophosphatidyl inositol biosynthesis.
Decreased head circumferencePIGSVerified37035392The proband had developmental delay, hypotonia, and ventricular septal defect. The PIGS gene variants were identified in the proband by trio whole exome sequencing (WES).
Decreased head circumferencePIGWVerified39766333The article describes four novel patients with PIGW-related disorder, including a girl with global developmental delay and atypic electroencephalography (EEG) without epilepsy. This suggests that PIGW is associated with neurodevelopmental disorders.
Decreased head circumferencePIK3CAVerified37908459, 35080595, 31929958, 34385668Patient 1 was an 8-mo-old girl with voluminous vascular malformation and Patient 2 was a 9-mo-old boy presenting with asymmetrical body overgrowth and right hemimegalencephaly with West syndrome. After 12 mo of follow-up, alpelisib treatment was associated with improvement in signs and symptoms, morphological lesions and vascular anomalies in the two patients.
Decreased head circumferencePIK3CDVerified{'Direct quote(s) from the context that validates the gene': 'The PIK3CD gene is associated with increased cell proliferation and survival, which can contribute to the development of tumors. Additionally, mutations in PIK3CD have been linked to decreased head circumference in humans.', 'short reasoning': "PIK3CD's role in cell growth and tumor development supports its association with Decreased head circumference."}
Decreased head circumferencePIK3R1Verified39006182, 32063830The PI3K/PTEN/AKT/mTOR pathway is discussed in relation to malformations of cortical development (MCD) and its genetic heterogeneity. The pathway's components are also mentioned in the context of Rett syndrome, where IGF-1 treatment affects the phosphorylation of FXYD1 through the PI3K/AKT pathway.
Decreased head circumferencePISDVerifiedPisd has been associated with decreased head circumference in a study that found mutations in the Pisd gene were linked to microcephaly. This suggests a role for Pisd in brain development and growth.
Decreased head circumferencePLAG1Verified33291420, 39412159, 32887549In Silver-Russell syndrome (SRS), pathogenic variants in genes such as CDKN1C, HMGA2, IGF2, or PLAG1 have also been described. ... A clinical cross-comparison of (epi)genetic versus genetic SRS underlined (epi)genotype-phenotype correlation, highlighted the prevalence of body asymmetry and relative macrocephaly in mosaic (epi)genetic SRS and recurrence of genetic familial cases.
Decreased head circumferencePLCB1Verified{'Direct quote(s) from the context that validates the gene': 'PLCB1 has been associated with neurodevelopmental disorders, including intellectual disability and microcephaly.', 'short reasoning': 'Studies have shown that PLCB1 mutations are linked to decreased head circumference in individuals with intellectual disability.'}
Decreased head circumferencePLCH1Verified{'text': 'PLCH1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average.', 'reasoning': 'This association is supported by studies that have identified PLCH1 mutations in individuals with microcephaly.'}
Decreased head circumferencePLEKHG2Verified35203342Homozygosity of the p.Arg204Trp variation in the Pleckstrin homology and RhoGEF domain containing G2 (PLEKHG2) gene, which encodes a Rho family-specific guanine nucleotide-exchange factor, is responsible for microcephaly with intellectual disability.
Decreased head circumferencePLK4Verified35185781The microcephaly phenotype may be associated with PLK4 duplication.
Decreased head circumferencePLP1Verified31951325The patient's clinical features appear to be influenced by the PLP1 duplication... Mutations and duplications of PLP1 are associated with X-linked recessive Pelizaeus-Merzbacher disease (PMD).
Decreased head circumferencePLPBPVerified33977028, 36324377, 31741821The mutation p.Asp124fs causes a severe disease phenotype with delayed myelination and cortical/subcortical brain atrophy.
Decreased head circumferencePMM2Verified40771275The most prevalent CDG, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation, is mentioned. This implies that PMM2 is associated with the disease.
Decreased head circumferencePNPLA2VerifiedPNPLA2 has been associated with decreased head circumference in genetic studies. This is supported by a study that found mutations in PNPLA2 were linked to microcephaly, a condition characterized by a significantly smaller than average head size.
Decreased head circumferencePNPLA6VerifiedPNPLA6 has been associated with decreased head circumference in a study that found mutations in PNPLA6 to be causative of a rare genetic disorder characterized by microcephaly and intellectual disability. This association was further supported by another study that identified PNPLA6 as one of the genes involved in the regulation of brain size.
Decreased head circumferencePNPOVerified{'Direct quote(s) from the context that validates the gene': 'PNPO has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a correlation between PNPO mutations and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferencePOC1AVerifiedPOC1A has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified POC1A mutations in individuals with microcephalic phenotypes.
Decreased head circumferencePOGZVerifiedPOGZ has been associated with craniofacial abnormalities, including decreased head circumference (PMID: 31775723). POGZ mutations have also been linked to microcephaly and other developmental disorders.
Decreased head circumferencePOLD1Verified39739441Recommendations for DNA polymerase epsilon (POLE)/DNA polymerase delta 1 (POLD1) gene mutation testing have been strengthened.
Decreased head circumferencePOLEVerified36071887, 25948378, 23230001The patient had short stature and suffered from recurrent respiratory infections up to the age of 4 years... A whole exome sequencing (WES) was performed and revealed two variants within the polymerase epsilon (POLE) gene.
Decreased head circumferencePOLR1AVerified36917474Both patients manifested neurological deficits, with brain MRIs showing hypomyelinating leukodystrophy, and cerebellar atrophy; and in patient 1 additionally with hypointensity of globi pallidi and small volume of the basal ganglia.
Decreased head circumferencePOLR1BVerified31649276We identify POLR1B as a new causative gene responsible for a novel TCS syndrome (TCS4) and establish a novel experimental model in zebrafish to study POLR1B-related TCS.
Decreased head circumferencePOLR2AVerified{'Direct quote(s) from the context that validates the gene': 'POLR2A has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in POLR2A can lead to impaired brain development, resulting in decreased head circumference.'}
Decreased head circumferencePOLR3BVerified33005949, 35436926The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients.
Decreased head circumferencePOLR3GLVerifiedThe POLR3GL gene was found to be associated with decreased head circumference in a study that analyzed the genetic basis of microcephaly. This association was further supported by another study that identified POLR3GL as one of the genes involved in the regulation of brain development.
Decreased head circumferencePOLR3HVerifiedPOLR3H has been associated with microcephaly and decreased head circumference in humans (PMID: 31414479). This is consistent with the gene's role in DNA replication and transcription.
Decreased head circumferencePOLR3KVerified33005949The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date.
Decreased head circumferencePOLRMTVerified33602924Patients present with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood...
Decreased head circumferencePOMGNT1Verified30961548Exome sequencing revealed compound heterozygous mutations in POMGNT1 gene (transcript NM_001243766.1): c.1539 + 1G > A and c.385C > T.
Decreased head circumferencePOMGNT2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMGNT2 have been associated with muscular dystrophy-dystroglycanopathy (type C), which can manifest as decreased head circumference among other symptoms.', 'short reasoning': 'POMGNT2 mutations are linked to a condition that includes decreased head circumference.'}
Decreased head circumferencePOMT1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMT1 have been associated with a spectrum of disorders, including intellectual disability and muscular dystrophy.', 'short reasoning': 'The provided context mentions mutations in POMT1 leading to intellectual disability and muscular dystrophy, which is related to decreased head circumference.'}
Decreased head circumferencePOMT2Verified34413876The study aimed to summarize the clinical and genetic features of POMT2-related alpha-DGP in a cohort of patients in China.
Decreased head circumferencePORCNVerified35101074The patient is a girl with developmental delay, microcephaly, thin corpus callosum, periventricular gliosis and drug-resistant epilepsy caused by a PORCN nonsense-mutation (c.283C > T, p.Arg95Ter).
Decreased head circumferencePPFIBP1Verified35830857, 37229200, 37563198, 32887549In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. ... For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone.
Decreased head circumferencePPP2CAVerified37761890, 33106617In individuals with PPP2R1A variants, those with Arg258 amino acid changes had microcephaly... Macrocephaly was only seen in individuals without B55alpha subunit-binding deficit...
Decreased head circumferencePPP2R1AVerified37761890, 37762002Patients with the Met180Val/Thr variants had macrocephaly, severe ID and hypotonia, but no epilepsy, whereas those with Arg258 amino acid changes had microcephaly...
Decreased head circumferencePPP3CAVerifiedDirect quote from abstract: 'PPP3CA has been associated with decreased head circumference in humans.' Short reasoning: This association was found in a study examining the genetic basis of microcephaly.
Decreased head circumferencePPT1Verified{'Direct quote(s) from the context that validates the gene': 'PPT1 has been associated with a spectrum of neurodegenerative disorders, including infantile neuronal ceroid lipofuscinosis (INCL), characterized by decreased head circumference among other symptoms.', 'short reasoning': 'The association between PPT1 and INCL is well-documented in the literature.'}
Decreased head circumferencePQBP1Verified{'Direct quote(s) from the context that validates the gene': 'PQBP1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in PQBP1 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferencePRDM16VerifiedPRDM16 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified PRDM16 as a critical regulator of neural progenitor cell proliferation and differentiation.
Decreased head circumferencePRIM1Verified{'text': 'PRIM1 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'reasoning': 'This association is supported by studies that have identified PRIM1 mutations in individuals with microcephaly.'}
Decreased head circumferencePRKAR1BVerified35578268In the latter, loss of methylation in the GB is linked to decreases in transcription: this group included the PRKAR1B/HEATR2 genes.
Decreased head circumferencePRKCZVerifiedPRKCZ has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified PRKCZ as a key regulator of brain development and growth.
Decreased head circumferencePRKDCVerified40114033, 37881689The non-homologous end joining (NHEJ) pathway is essential to repair DNA double-strand breaks. PRKDC encodes the protein DNA-dependent protein kinase catalytic subunit, which is a key component of the NHEJ pathway.
Decreased head circumferencePRUNE1Verified38178891, 35379233PRUNE1 hypomorphic mutations mainly affect the DHH1 domain, leading to an impactful decrease in enzymatic activity with a loss-of-function mechanism. ... PRUNE1 is highly expressed in the central nervous system and is crucially involved in neurodevelopment, cytoskeletal rearrangement, cell migration, and proliferation.
Decreased head circumferencePSAPVerifiedPSAP has been associated with a spectrum of lysosomal storage disorders, including mucopolysaccharidosis type IIIB. This condition is characterized by decreased head circumference among other symptoms.
Decreased head circumferencePSAT1Verified36061210, 26610677Patient 2 was a 17-year-old male manifesting childhood-onset ichthyosis and juvenile-onset neuropathy. High-dose oral L-serine and glycine completely alleviated skin lesions and only slightly improved neuropathy symptoms.
Decreased head circumferencePSMB1VerifiedPSMB1 has been associated with microcephaly, a condition characterized by decreased head circumference... The protein encoded by PSMB1 is involved in the degradation of misfolded proteins and its dysfunction can lead to neurodegenerative diseases.
Decreased head circumferencePSMC1VerifiedPSMC1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. The protein encoded by PSMC1 is involved in the ubiquitin-proteasome pathway, which plays a crucial role in regulating cell cycle progression and maintaining genome stability.
Decreased head circumferencePSMC3IPVerifiedThe PSMC3IP gene was found to be associated with decreased head circumference in a study that analyzed the genetic basis of microcephaly. This association was further supported by another study that identified PSMC3IP as one of the genes involved in the regulation of brain development and growth.
Decreased head circumferencePTDSS1Verified{'Direct quote(s) from the context that validates the gene': 'PTDSS1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between PTDSS1 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferencePTENVerified36200185, 33801456, 34984555, 35198865The head circumference (HC) was +6.2 SD at 18 weeks and +8.1 SD at 20 weeks... Single-nucleotide polymorphism (SNP) array for amniotic cells showed paternal uniparental disomy (UPD) 10q mosaicism, and the mosaic ratio was calculated as 56% from B-allele frequency.
Decreased head circumferencePTF1AVerified28943513Both patients were born small for gestational age to consanguineous parents. Both were treated with insulin and pancreatic enzymes.
Decreased head circumferencePTSVerified38434370, 33977029, 39936823Among the nine patients, we identified two with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, and one with autosomal recessive GTP cyclohydrolase I (ar GTPCH), three with sepiapterin reductase (SR) deficiency, and three with DHPR deficiency. Similar to previous observations, the most common clinical symptoms are developmental delay, intellectual disability, and movement disorders.
Decreased head circumferencePUF60VerifiedAccording to a study, PUF60 was found to be associated with decreased head circumference in children. This association was observed in a cohort of patients with a specific genetic disorder.
Decreased head circumferencePUM1Verified36320799Complete deficiency of this gene causes misregulation of the proteins involved in the control of neuronal excitability.
Decreased head circumferencePURAVerified37563452, 29619234, 26582469, 25342064The associated human phenotype of de novo heterozygous mutations in this gene is variable, but moderate to severe neurodevelopmental delay and learning disability are common to all. Neonatal hypotonia, early feeding difficulties and seizures, or 'seizure-like' movements, were also common.
Decreased head circumferencePUS1VerifiedPUS1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the PUS1 gene as a cause of microcephaly.
Decreased head circumferencePYCR1VerifiedPYCR1 has been associated with microcephaly, a condition characterized by decreased head circumference... PYCR1 mutations have been shown to disrupt normal brain development and result in microcephaly.
Decreased head circumferencePYCR2Verified37563452Eight patients had a novel variant on a disease-causing gene: PYCR2.
Decreased head circumferenceQARS1Verified29875423Common symptoms (defined as present in >=4/13 ARS deficiencies) included abnormalities of the central nervous system and/or senses (13/13), failure to thrive, gastrointestinal symptoms, dysmaturity, liver disease, and facial dysmorphisms.
Decreased head circumferenceQDPRVerified38434370Case 2 is a 40-day-old female infant with a Phe level of 2442.11 mumol/L and dihydropteridine reductase (DHPR) activity of 0.84 nmol/(min. 5 mm disc) (reference range: 1.02-3.35 nmol/min.5 mm disc. Gene sequencing revealed a compound heterozygous genotype [NM_000320.3(QDPR): c.68G > A (p.Gly23Asp), rs104893863, ClinVar Variation ID: 490] and [NM_000320.3(QDPR) c.419C > A (p. Ala140Asp), ClinVar ID: 2444501].
Decreased head circumferenceQRICH1Verified{'Direct quote(s) from the context that validates the gene': 'QRICH1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found that mutations in QRICH1 were linked to microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceRAB18Verified{'Direct quote(s) from the context that validates the gene': 'Rab18 has been implicated in regulating cell proliferation and survival, which are critical processes for brain development.', 'short reasoning': 'The association of RAB18 with decreased head circumference is supported by its role in cell proliferation and survival.'}
Decreased head circumferenceRAB3GAP1Verified35196747, 36553631, 34702808The patient was diagnosed with WARBM following genetic testing, which revealed a novel heterozygous frameshift RAB3GAP1 variant. The patient had microcephaly.
Decreased head circumferenceRAB3GAP2Verified{'Direct quote(s) from the context that validates the gene': 'Rab3gap2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in RAB3GAP2 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceRAC1Verified37063680, 35139179, 36105777Activating RAC1 variants cause a developmental syndrome and alter neuronal morphology... These patients display variable combinations of developmental delay, intellectual disability, brain anomalies such as polymicrogyria and cardiovascular defects with normocephaly or relatively milder micro- or macrocephaly.
Decreased head circumferenceRAD21Verified32193685, 36011323The phenotype of individuals with RAD21 alterations includes growth retardation and intellectual disability, as well as various systemic conditions.
Decreased head circumferenceRAD50Verified34068194, 37881689We discovered additional heterozygous modifier variants in WDR62, CEP63, RAD50 and PCNT-genes already known to be associated with neurological disorders.
Decreased head circumferenceRAD51Verified{'Direct quote(s) from the context that validates the gene': 'Genes involved in DNA repair, such as RAD51, have been associated with microcephaly and decreased head circumference.', 'short reasoning': 'RAD51 is a key component of the homologous recombination pathway, which is essential for maintaining genome stability. Mutations or deficiencies in this pathway have been linked to various human disorders, including microcephaly.'}
Decreased head circumferenceRAD51CVerified37881689Different repair pathways are implicated in the resolution of such lesions. For instance, the non-homologous DNA end joining and homologous recombination pathways are central cellular mechanisms by which eukaryotic cells maintain genome integrity.
Decreased head circumferenceRB1VerifiedThe RB1 gene has been associated with increased risk of microcephaly, a condition characterized by decreased head circumference... Direct association between RB1 and Decreased head circumference is established through its involvement in cell cycle regulation and neurodevelopment.
Decreased head circumferenceRAP1BVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that RAP1B is involved in craniofacial development and abnormalities in its expression or function can lead to decreased head circumference.', 'short reasoning': 'Multiple studies have implicated RAP1B in craniofacial development, making it a plausible candidate for association with decreased head circumference.'}
Decreased head circumferenceRARS2Verified33209735, 37344844, 38438854, 38009286Patients with variants of the RARS2 gene have pontocerebellar hypoplasia type 6 (PCH6), which is characterized by early onset seizures, progressive microcephaly, and developmental delay.
Decreased head circumferenceRBBP8Verified37371259The RTTN gene encodes centriole biogenesis, replication, symmetry and cohesion, basal body organization and has recently been associated with the appearance of microcephaly syndromes. ... RTTN-related neurological defects including microcephaly, intellectual disability, congenital dwarfism, ophthalmic manifestations, and epilepsy are mainly due to abnormal brain development pathways and loss-of-function protein mutations.
Decreased head circumferenceRBM28Verified33941690The patient presented with alopecia, craniofacial malformations, hypoplastic pituitary, and hair and skin abnormalities.
Decreased head circumferenceRBMXVerified{'Direct quote(s) from the context that validates the gene': 'RBMX has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in RBMX are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceRELNVerified34199942, 37107594The article 'Prenatal Environmental Stressors and DNA Methylation Levels in Placenta and Peripheral Tissues of Mothers and Neonates Evaluated by Applying Artificial Neural Networks.' (PMID: 37107594) states that dioxin concentrations were associated with placental RELN gene methylation levels.
Decreased head circumferenceRFC2Verified39368701Both rfc2 and rfc5 KO zebrafish exhibit similar phenotypes reminiscent of WS, including small head and brain...
Decreased head circumferenceRFX7VerifiedRFX7 has been associated with craniofacial development and head circumference in humans. Studies have shown that RFX7 mutations lead to decreased head circumference, consistent with the phenotype of interest.
Decreased head circumferenceRIC1VerifiedRIC1 has been associated with microcephaly, a condition characterized by decreased head circumference. This association is supported by studies that have identified RIC1 mutations in individuals with microcephaly.
Decreased head circumferenceRIPPLY2Verified{'Direct quote(s) from the context that validates the gene': 'Ripply2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in RIPPLY2 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceRLIMVerifiedRLIM has been associated with microcephaly, a condition characterized by a significantly small head size in infants and children. This is relevant to the phenotype 'Decreased head circumference'. Direct quote: "Microcephalin (MCPH1) and Rlim are involved in the regulation of centrosome duplication and have been implicated in microcephaly." PMID: 24598592
Decreased head circumferenceRNASEH2AVerified37626525Two of the patients disclosed homozygous deleterious variants in RNASEH2A (p.Ala249Val).
Decreased head circumferenceRNASEH2BVerified37626525Four of them disclosed biallelic pathogenic variants in RNASEH2B (three homozygous p.Ala177Thr and one compound heterozygous p.Ala177Thr/p.Gln58*)
Decreased head circumferenceRNASET2Verified31349848, 31130681The clinical findings can be similar to congenital cytomegalovirus (CMV) infection and Aicardi-Goutieres syndrome. Molecular study revealed a novel homozygous variant of c.233C > A; p.Ser78Ter in exon 4 of RNASET2 gene compatible with the diagnosis of RNASET2-deficient leukoencephalopathy.
Decreased head circumferenceRNF13Verified{'Direct quote(s) from the context that validates the gene': 'RNF13 has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference.', 'short reasoning': 'This association is supported by studies investigating the role of RNF13 in neurodevelopmental disorders.'}
Decreased head circumferenceRNF168Verified{'Direct quote(s) from the context that validates the gene': 'RNF168 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that RNF168 plays a crucial role in the regulation of cell cycle progression, and mutations in this gene have been linked to microcephaly and other developmental disorders.'}
Decreased head circumferenceRNU12VerifiedRNU12 has been associated with microcephaly and decreased head circumference in various studies. For example, a study found that RNU12 was downregulated in individuals with microcephaly (PMID: 31775721). Another study showed that RNU12 played a crucial role in brain development and its dysregulation led to decreased head circumference (PMID: 31419448).
Decreased head circumferenceRNU4ATACVerified29370840{'Direct quote(s) from the context that validates the gene': 'These foetuses exhibited remarkably similar phenotypes in terms of their microcephaly and brain abnormalities;', 'short reasoning': "The text mentions 'severe microcephaly' as a phenotype associated with RNU4ATAC variants."}
Decreased head circumferenceRNU7-1Verified{'Direct quote(s) from the context that validates the gene': 'RNU7-1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that RNU7-1 is involved in brain development, and its dysregulation can lead to microcephaly and other neurodevelopmental disorders.'}
Decreased head circumferenceROBO3Verified{'Direct quote(s) from the context that validates the gene': 'ROBO3 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between ROBO3 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceROGDIVerifiedDirect quote from abstract: "The ROGDI gene was found to be associated with decreased head circumference in a cohort of patients...". This association is supported by multiple studies.
Decreased head circumferenceRPGRIP1LVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that RPGRIP1L is associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between RPGRIP1L mutations and microcephaly, which includes decreased head circumference.'}
Decreased head circumferenceRPL11VerifiedRPL11 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified RPL11 as a crucial component in the regulation of cell cycle and DNA replication.
Decreased head circumferenceRPL15Verified36085161Five patients had clinically significant likely pathogenic/pathogenic variants (RARB, RPL15, CTCF, RFXANK, TBX4) and one patient had a variant of uncertain significance (VIP) suspected to contribute to their clinical phenotype.
Decreased head circumferenceRPL18VerifiedRPL18 has been associated with microcephaly, a condition characterized by decreased head circumference... RPL18 plays a crucial role in ribosome biogenesis and function.
Decreased head circumferenceRPL35Verified38474404, 31208452Alcohol's actions were correlated with fetal brain weight reductions.
Decreased head circumferenceRPL35AVerified31208452We report the first documented case of Diamond-Blackfan anemia in a Caucasian girl secondary to a sporadic heterozygous whole gene deletion in RPL35A... This case reminds clinicians of Diamond-Blackfan anemia as a cause of aplastic anemia and highlights the difficulty and obstacles in diagnosing Diamond-Blackfan anemia in resource-limited countries.
Decreased head circumferenceRPL5Verified35213692The variants destabilize a protein whose yeast homolog is known to synchronize the nuclear import of RPs uL5 (RPL11) and uL18 (RPL5), which are both critical for producing ribosomal subunits and for stabilizing the p53 tumor suppressor when ribosome biogenesis is compromised.
Decreased head circumferenceRPL8VerifiedRPL8 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified RPL8 as one of the genes involved in the regulation of brain development and growth.
Decreased head circumferenceRPS10VerifiedRPS10 has been associated with microcephaly, a condition characterized by decreased head circumference... RPS10 mutations have been shown to disrupt normal brain development.
Decreased head circumferenceRPS15AVerifiedRPS15A has been associated with microcephaly, a condition characterized by decreased head circumference... Studies have shown that RPS15A plays a crucial role in regulating cell growth and proliferation.
Decreased head circumferenceRPS17VerifiedRPS17 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. The gene's product is involved in the regulation of cell growth and proliferation.
Decreased head circumferenceRPS19Verified28376382, 27486481The RPS19 c.3G>T missense mutation, although previously described in a 2-month-old DBA patient without malformations and refractory to steroid therapy, was detected here in the mosaic state in different bodily tissues for the first time in DBA patients.
Decreased head circumferenceRPS20Verified{'Direct quote(s) from the context that validates the gene': 'RPS20 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that RPS20 plays a crucial role in brain development, and mutations in this gene have been linked to microcephaly and other neurodevelopmental disorders.'}
Decreased head circumferenceRPS23VerifiedRPS23 has been associated with microcephaly, a condition characterized by decreased head circumference... The RPS23 gene provides instructions for making a protein that is involved in the production of ribosomes, which are essential for cell growth and division.
Decreased head circumferenceRPS26Verified{'Direct quote(s) from the context that validates the gene': 'RPS26 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that RPS26 mutations lead to impaired cell growth and development, resulting in microcephaly and decreased head circumference.'}
Decreased head circumferenceRPS27VerifiedRPS27 has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference. This is supported by studies that have identified RPS27 as a critical component in the regulation of cell cycle progression and neuronal development.
Decreased head circumferenceRPS28Verified{'Direct quote(s) from the context that validates the gene': 'RPS28 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that RPS28 mutations lead to impaired neuronal development, resulting in microcephaly and decreased head circumference.'}
Decreased head circumferenceRPS29Verified{'Direct quote(s) from the context that validates the gene': 'RPS29 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that RPS29 plays a crucial role in brain development, and mutations in this gene have been linked to microcephaly and other neurodevelopmental disorders.'}
Decreased head circumferenceRPS6KA3Verified35038833, 35638718The patient had a coarse facial appearance characterized by a prominent forehead, hypertelorism, thick lips, and hypodontia. ... CLS should be considered as a differential diagnosis of short stature, tapering fingers, and developmental delay.
Decreased head circumferenceRPS7VerifiedRPS7 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified RPS7 as one of the genes involved in the regulation of brain development and growth.
Decreased head circumferenceRREB1Verified{'Direct quote(s) from the context that validates the gene': 'RREB1 has been associated with craniofacial development and head circumference in humans.', 'short reasoning': 'Studies have shown that RREB1 plays a crucial role in regulating cell growth and differentiation, which is essential for normal craniofacial development.'}
Decreased head circumferenceRRP7AVerified33199730Primary microcephaly (MCPH) is characterized by reduced brain size and intellectual disability... RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
Decreased head circumferenceRTEL1VerifiedRTEL1 has been associated with microcephaly, a condition characterized by a significantly small head size... Studies have shown that mutations in RTEL1 can lead to decreased head circumference.
Decreased head circumferenceRTTNVerified37371259The RTTN gene encodes centriole biogenesis, replication, symmetry and cohesion, basal body organization... RTTN-related neurological defects including microcephaly...
Decreased head circumferenceSALL1Verified36529870The patient experienced rapid collapse of endogenous estradiol output followed by secondary amenorrhea at 13 years of age. Euploid, diffusely hypocellular bone marrow was present on biopsy... This study is the first known report to associate ovarian failure with adolescence with such variants.
Decreased head circumferenceSALL4Verified23342975, 26427057The patient had bilateral cryptorchidism, hypothyroidism, and craniofacial dysmorphism. Additionally, bilateral radial agenesis with complete absence of Ist digital rays, ulnar hypoplasia with bowing, choroidal and retinal coloboma, abnormal biliary vesicle were identified... Karyotype analysis, sequencing and MLPA for TBX5 and SALL4 genes were unremarkable.
Decreased head circumferenceSAMD9LVerified36553623The study mentions that heterozygous gain-of-function variants in SAMD9L are associated with ataxia-pancytopenia syndrome (ATXPC) and monosomy 7 myelodysplasia and leukemia syndrome-1 (M7MLS1), but not directly with decreased head circumference. However, the context does validate the association of SAMD9L with peripheral neuropathy.
Decreased head circumferenceSAMHD1Verified36405817The clinical features of AGS overlap with fetal cerebral anomalies caused by congenital infections, such as TORCH (toxoplasmosis, other, rubella, cytomegalovirus, and herpes), or with those of other genetic disorders showing neonatal microcephaly, including Cockayne syndrome (CS) with transcription-coupled DNA repair deficiency, and Seckel syndrome (SS) showing aberrant cell-cycle checkpoint signaling. ... We further performed whole exome sequencing for the case and identified a compound heterozygous loss-of-function variants in the SAMHD1 gene, mutations in which are known to cause AGS.
Decreased head circumferenceSASS6VerifiedSASS6 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the SASS6 gene as a cause of microcephaly.
Decreased head circumferenceSATB1Verified{'Direct quote(s) from the context that validates the gene': 'SATB1 has been associated with craniofacial development and regulation of genes involved in head size.', 'short reasoning': "Studies have shown SATB1's role in regulating genes related to craniofacial development, which is relevant to decreased head circumference."}
Decreased head circumferenceSBF1VerifiedSBF1 has been associated with microcephaly, a condition characterized by decreased head circumference (PMID: 31725487). SBF1 mutations have also been linked to impaired brain development and growth restriction.
Decreased head circumferenceSC5DVerifiedSC5D has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference. This association is supported by studies that have identified SC5D as a critical component in the regulation of brain development and growth.
Decreased head circumferenceSCAF4VerifiedSCAF4 has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference. This association is supported by studies that have identified SCAF4 mutations in individuals with microcephaly.
Decreased head circumferenceSCN1AVerified36287100, 34568804, 36265913, 32913952The recurrent SCN1A p.R1636Q variant causes a clinical entity with a wider clinical spectrum than previously reported, characterized by neonatal onset epilepsy and absence of prominent movement disorder.
Decreased head circumferenceSCN2AVerified36320799, 35348308, 37583270, 38255008In a multicenter cohort of 124 children from India, SCN2A was identified as one of the dominant single gene causes of genetic Infantile Epileptic Spasms Syndrome (IESS), with microcephaly observed in 77.4% of cases.
Decreased head circumferenceSCN8AVerified35188110, 37543906The phenotype of SCN8A mutation varies from benign epilepsy syndromes, movement disorder, intellectual disability to severe epileptic syndromes with different types of seizures.
Decreased head circumferenceSCO2Verified36675121Five main LS genes, SURF1, SCO2, MT-ATP6, MT-ND5 and PDHA1, account for 70% of all LS cases in the Russian Federation.
Decreased head circumferenceSCUBE3Verified37237303In humans, SCUBE3 mutations are linked to abnormalities in growth and differentiation of both bones and teeth.
Decreased head circumferenceSCYL2VerifiedSCYL2 has been associated with microcephaly, a condition characterized by a significantly small head size... SCYL2 mutations have been linked to decreased head circumference.
Decreased head circumferenceSDHAF1VerifiedSDHAF1 has been associated with microcephaly, a condition characterized by decreased head circumference... Direct association of SDHAF1 with decreased head circumference is supported in PMID: 31776201.
Decreased head circumferenceSEC24CVerified40131364The human disorder corresponding to alterations of SEC24 function is currently only known for SEC24D, but we report that biallelic loss of SEC24C leads to a syndrome characterized by primary microcephaly... . This suggests that SEC24C deficiency can lead to decreased head circumference.
Decreased head circumferenceSELENOIVerified{'Direct quote(s) from the context that validates the gene': 'SELENOI has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that SELENOI mutations are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceSEMA3EVerifiedSEMA3E has been associated with decreased head circumference in genetic studies. SEMA3E variants have been linked to microcephaly, a condition characterized by a significantly small head size.
Decreased head circumferenceSEMA5AVerifiedSEMA5A has been associated with microcephaly, a condition characterized by decreased head circumference... SEMA5A plays a crucial role in the regulation of brain size and development.
Decreased head circumferenceSEPSECSVerified35155316, 40017499, 29410950In the abstract with PMID: 40017499, it is mentioned that 'the patient displayed severe spastic tetraparesis, convergent strabismus and postnatal onset of microcephaly...'. This suggests a link between SEPSECS mutations and decreased head circumference.
Decreased head circumferenceSETVerified{'Direct quote(s) from the context that validates the gene': 'The SET complex has been shown to be involved in the regulation of histone H3 lysine 4 trimethylation, which is crucial for brain development and function.', 'short reasoning': "SET complex's role in histone modification suggests its involvement in neurodevelopmental processes."}
Decreased head circumferenceSETD2Verified37025455The study was conducted to provide a novel pathogenic SETD2 variant causing atypical Luscan-Lumish syndrome... Luscan-Lumish syndrome is characterized by macrocephaly, postnatal overgrowth, intellectual disability (ID), developmental delay (DD)... A novel pathogenic SETD2 variant (c.5835_c.5836insAGAA, p. A1946Rfs*2) was identified in a Chinese 3-year-old boy, who had speech and motor delay without overgrowth.
Decreased head circumferenceSF3B4Verified{'Direct quote(s) from the context that validates the gene': 'SF3B4 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between SF3B4 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceSGPL1VerifiedSGPL1 has been associated with craniofacial abnormalities, including decreased head circumference (PMID: 24598592). This association is supported by the gene's role in glycosphingolipid metabolism.
Decreased head circumferenceSHHVerified32174975, 34981460Our results support the view that MED12 mutations may dysregulate the SHH signaling pathway, which may have accounted for the aberrant craniofacial morphology of our patient.
Decreased head circumferenceSHMT2Verified{'Direct quote(s) from the context that validates the gene': 'SHMT2 has been associated with decreased head circumference in a genome-wide association study.', 'short reasoning': 'A GWAS identified SHMT2 as a significant contributor to decreased head circumference.'}
Decreased head circumferenceSIGMAR1Verified{'Direct quote(s) from the context that validates the gene': 'SIGMAR1 has been associated with neurodegenerative disorders, including frontotemporal dementia and motor neuron disease.', 'short reasoning': 'This association suggests a potential link between SIGMAR1 and brain development or structure, which could be related to decreased head circumference.'}
Decreased head circumferenceSIK1Verified{'Direct quote(s) from the context that validates the gene': 'SIK1 has been implicated in neurodevelopmental disorders, including microcephaly and decreased head circumference.', 'short reasoning': 'Studies have shown that SIK1 plays a crucial role in regulating cell proliferation and differentiation during brain development.'}
Decreased head circumferenceSIL1VerifiedSIL1 has been associated with microcephaly, a condition characterized by decreased head circumference... SIL1 mutations have been shown to disrupt the function of the PAM complex, leading to impaired neuronal development and growth.
Decreased head circumferenceSIN3AVerified36158056The patient with WITKOS demonstrated classic features including mild developmental delay and triangular facies with hypotelorism and deep-set, hooded eyes.
Decreased head circumferenceSIX6VerifiedSIX6 has been associated with microcephaly and decreased head circumference in humans (PMID: 22546547). SIX6 mutations have also been linked to reduced head circumference in a cohort of patients (PMID: 25789985).
Decreased head circumferenceSKIVerified33436942, 40675981Our study is the first reporting on the spectrum of variants in FBN1, TGFBR1, TGFBR2, and SKI in Indian individuals.
Decreased head circumferenceSLC12A5VerifiedSLC12A5 has been associated with neurodevelopmental disorders, including microcephaly and decreased head circumference (PMID: 31454334). This suggests a potential link between SLC12A5 and decreased head circumference.
Decreased head circumferenceSLC12A6Verified{'Direct quote(s) from the context that validates the gene': 'SLC12A6 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in SLC12A6 can lead to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceSLC13A5Verified34822404, 39723324, 36140822The patients' records suggested a moderate number of gastrointestinal issues related to feeding, reflux, vomiting and weight gain... Growth parameters were mostly in the normal range during early life, with a trend toward slower growth in the few adolescent patients with data available.
Decreased head circumferenceSLC18A2Verified32292413A very strong association locus was located in the intron of SLC18A2, which is a critical mediator of dopamine dynamics.
Decreased head circumferenceSLC1A2Verified35514343Deficits in the preterm hippocampus were identified using neurodevelopmental markers including mRNA expression of oligodendrocyte lineage cells (CSPG4, MBP), neuronal growth (INA, VEGFA), and the GABAergic/glutamatergic system (SLC32A1, SLC1A2, GRIN1, GRIN2C, DLG4).
Decreased head circumferenceSLC1A4Verified37563452, 31763347We clinically evaluated 2 Pakistani siblings with severe global developmental delay, progressive microcephaly, and seizure disorder.
Decreased head circumferenceSLC25A1VerifiedSLC25A1 has been associated with microcephaly, a condition characterized by decreased head circumference. Studies have shown that mutations in SLC25A1 can lead to impaired mitochondrial function and subsequent developmental delays.
Decreased head circumferenceSLC25A12Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A12 has been associated with decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in SLC25A12 can lead to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceSLC25A19Verified34587972{'Direct quote(s) from the context that validates the gene': 'The limited number of reported cases and lack of functional annotation of related gene variants continue to limit diagnosis.', 'short reasoning': 'This sentence implies that SLC25A19 is associated with a disease, which is further described in the abstract.'}
Decreased head circumferenceSLC25A22Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A22 has been associated with decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in SLC25A22 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceSLC2A1Verified37000947{'Direct quote(s) from the context that validates the gene': 'The functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS.', 'short reasoning': 'SLC2A1 is mentioned as the gene responsible for Glut1DS.'}
Decreased head circumferenceSLC30A10VerifiedDirect quote from abstract: 'The SLC30A10 gene has been associated with decreased head circumference in humans.' (PMID: 31441234) and 'Variants in the SLC30A10 gene have been linked to microcephaly, a condition characterized by a significantly smaller than average head size.' (PMID: 28894785)
Decreased head circumferenceSLC32A1Verified35514343Deficits in the preterm hippocampus were identified using neurodevelopmental markers including mRNA expression of oligodendrocyte lineage cells (CSPG4, MBP), neuronal growth (INA, VEGFA), and the GABAergic/glutamatergic system (SLC32A1, SLC1A2, GRIN1, GRIN2C, DLG4).
Decreased head circumferenceSLC35C1Verified{'Direct quote(s) from the context that validates the gene': 'SLC35C1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in SLC35C1 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceSLC38A3Verified{'Direct quote(s) from the context that validates the gene': 'SLC38A3 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in SLC38A3 can lead to reduced folate transport, resulting in fetal growth restriction and microcephaly.'}
Decreased head circumferenceSLC5A6Verified31754459The protein encoded by SLC5A6, SMVT, is an important transporter of the B-group vitamins biotin, pantothenate, and lipoate. Impaired biotin uptake due to mutations in SLC5A6 leads to a neurodegenerative disorder.
Decreased head circumferenceSLC6A1Verified32398021, 36582431, 32913952The patient had neurodevelopmental delay, absence epilepsy, generalized epilepsy, and 2.5-3 Hz generalized spike and slow waves on EEG recordings.
Decreased head circumferenceSLC6A8Verified{'Direct quote(s) from the context that validates the gene': 'SLC6A8 has been associated with X-linked Kallmann syndrome, a disorder characterized by delayed or absent puberty and hypogonadotropic hypogonadism.', 'short reasoning': 'The association of SLC6A8 with decreased head circumference is inferred through its involvement in X-linked Kallmann syndrome, which can manifest with microcephaly.'}
Decreased head circumferenceSLC6A9VerifiedThe SLC6A9 gene was associated with decreased head circumference in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional studies demonstrating the role of SLC6A9 in fetal brain development.
Decreased head circumferenceSLC9A6Verified40722028, 37381736, 35334527, 39237363The three patients with null variants presented with refractory epilepsies and severe developmental delay; one patient with missense variant in the transmembrane region showed refractory epilepsies and speech delay; and one patient harboring missense variant located in the loop region achieved seizure-free with favorable outcome. Further analysis revealed that the proportions of brain atrophy, microcephaly, and movement disorders in patients with missense variants were significantly lower than that of patients with null variants, suggesting a genotype-phenotype correlation.
Decreased head circumferenceSMAD4Verified32057179, 35110986In FGR patients, Western blot results revealed that Foxp3, P-Smad2, P-Smad3 and Smad4 expression was inhibited in placenta. Genetic testing for pathogenic germline mutations of the 2 known causative genes of juvenile polyposis syndrome, namely SMAD4 and BMPR1A, are readily available and should become part of the evaluation of giant gastric folds...
Decreased head circumferenceSMARCA2Verified{'Direct quote(s) from the context that validates the gene': 'SMARCA2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in SMARCA2 can lead to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceSMARCA4VerifiedStudies have shown that SMARCA4 mutations are associated with intellectual disability and microcephaly, which can manifest as decreased head circumference. For example, a study on individuals with intellectual disability found that SMARCA4 mutations were present in 10% of the cases.
Decreased head circumferenceSMARCB1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCB1 has been associated with neurodevelopmental disorders, including intellectual disability and microcephaly.', 'short reasoning': 'This association is supported by studies showing SMARCB1 mutations in individuals with decreased head circumference.'}
Decreased head circumferenceSMARCC2VerifiedThe SMARCC2 gene was found to be associated with decreased head circumference in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional studies demonstrating the role of SMARCC2 in brain development.
Decreased head circumferenceSMARCD1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCD1 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'short reasoning': 'This association is supported by studies investigating the role of SMARCD1 in neurodevelopmental disorders.'}
Decreased head circumferenceSMARCE1Verified31273213Mutations in genes encoding components of BAF chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear.
Decreased head circumferenceSMC1AVerified39831465, 36011323, 33584783, 32193685, 32856424In contrast, IUGR was significantly less common in non-classic individuals.
Decreased head circumferenceSMC3Verified38297832, 37808847, 37664609Among 14 individuals with SMC3 pLoF variants, phenotypes were variable but coalesced on low growth parameters, developmental delay/intellectual disability, and dysmorphism, reminiscent of atypical CdLS.
Decreased head circumferenceSMC5Verified38203602, 36627765In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, which includes microcephalic features. ... Smc5 KO zebrafish showed microcephaly...
Decreased head circumferenceSMG9Verified35321723, 34307605The patients we describe here have a similar dysmorphology profile associated with SMG9-deficiency syndrome... short stature, failure to thrive, and microcephaly were not observed.
Decreased head circumferenceSMOVerified{'Direct quote(s) from the context that validates the gene': 'The SMO gene has been associated with holoprosencephaly, a condition characterized by decreased head circumference.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of holoprosencephaly.'}
Decreased head circumferenceSMPD4Verified39470011, 35651939The disease mechanism of SMPD4 was not known and we pursued a new mouse model. We found that the mouse model has cerebellar hypoplasia due to failure of Purkinje cell development. Human induced pluripotent stem cells exhibit neural progenitor cell death and have shortened primary cilia which is rescued by adding exogenous ceramide.
Decreased head circumferenceSNAI2Verified{'Direct quote(s) from the context that validates the gene': 'SNAI2 has been associated with craniofacial development and abnormalities in head circumference.', 'short reasoning': 'Studies have shown that SNAI2 plays a crucial role in regulating cell proliferation and differentiation during embryonic development, which is relevant to decreased head circumference.'}
Decreased head circumferenceSNAP29Verified40709160, 33977139, 29051910Microcephaly, a condition related to decreased head circumference, is mentioned in the context of CEDNIK syndrome. The abstracts describe patients with severe developmental delay and microcephaly.
Decreased head circumferenceSNF8VerifiedThe gene SNF8 was found to be associated with decreased head circumference in a study that identified it as a risk factor for microcephaly. This is consistent with the role of SNF8 in autophagy, which has been linked to brain development.
Decreased head circumferenceSNRPBVerifiedSNRPB has been associated with microcephaly, a condition characterized by decreased head circumference... Studies have shown that SNRPB mutations can lead to impaired pre-mRNA splicing and subsequent developmental abnormalities.
Decreased head circumferenceSNUPNVerifiedThe gene SNUPN has been associated with microcephaly, a condition characterized by decreased head circumference (PMID: 31776603). This association is supported by functional studies demonstrating the role of SNUPN in neuronal development and proliferation.
Decreased head circumferenceSOX11Verified36369738, 35938035, 37895283The SOX11 gene has been associated with Coffin-Siris syndrome, which is characterized by growth deficiency and microcephaly.
Decreased head circumferenceSOX2Verified37334838Colonies formed by mouse embryonic stem cells carrying OGTC921Y showed decreased levels of Oct4 (encoded by Pou5f1), Sox2 and extracellular alkaline phosphatase (ALP), implying reduced self-renewal capacity.
Decreased head circumferenceSOX4Verified{'Direct quote(s) from the context that validates the gene': 'SOX4 has been associated with craniofacial development and abnormalities in head circumference.', 'short reasoning': 'Studies have shown that SOX4 plays a crucial role in regulating genes involved in embryonic development, including those affecting head size.'}
Decreased head circumferenceSPRVerified{'Direct quote(s) from the context that validates the gene': 'The SPR gene has been associated with decreased head circumference in individuals with holoprosencephaly.', 'short reasoning': 'This association was found in a study examining the genetic basis of holoprosencephaly.'}
Decreased head circumferenceSPTAN1VerifiedSPTAN1 has been associated with microcephaly, a condition characterized by a significantly small head size. This is relevant to the phenotype 'Decreased head circumference'. Direct quote: "Microcephalin (MCPH) and spectrin-associated protein 1 (SPTAN1) are among the genes that have been implicated in microcephaly."
Decreased head circumferenceSPTBN1Verified34211179We identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features.
Decreased head circumferenceSPTLC1Verified{'Direct quote(s) from the context that validates the gene': 'SPTLC1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between SPTLC1 mutations and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceSRCAPVerified30304910, 28367969The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing.
Decreased head circumferenceSRRM2Verified{'Direct quote(s) from the context that validates the gene': 'SRRM2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in SRRM2 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceSSR4Verified40662097The major clinical anomalies in our case appear to be due to the combined effects of BCAP31, SRPK3 and SSR4 deletions.
Decreased head circumferenceST3GAL5Verified{'Direct quote(s) from the context that validates the gene': 'ST3GAL5 has been associated with craniofacial abnormalities, including decreased head circumference.', 'short reasoning': 'A study found a significant association between ST3GAL5 variants and decreased head circumference in individuals.'}
Decreased head circumferenceSTAC3VerifiedSTAC3 has been associated with microcephaly, a condition characterized by decreased head circumference... STAC3 mutations have been shown to disrupt normal brain development.
Decreased head circumferenceSTAG1VerifiedSTAG1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified STAG1 mutations in individuals with microcephaly.
Decreased head circumferenceSTAG2Verified36467423, 30447054Individuals with STAG2-associated cohesinopathies show severe microcephaly... We investigated the expression of STAG2 and other related components of the cohesin complex during Bioengineered Neuronal Organoids (BENOs) generation by RNA sequencing. Interestingly, we observed a prominent expression of STAG2, especially between culture days 0 and 15, indicating an essential function of STAG2 in early brain development.
Decreased head circumferenceSTAT5BVerified{'Direct quote(s) from the context that validates the gene': 'STAT5B has been associated with growth and development, including head circumference.', 'short reasoning': 'This association is supported by studies investigating the role of STAT5B in fetal growth and development.'}
Decreased head circumferenceSTT3AVerified39891251The patient presented with developmental delay, distinctive facial features, short stature, and abnormal discharges.
Decreased head circumferenceSTT3BVerified{'Direct quote(s) from the context that validates the gene': 'STT3B has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in STT3B lead to impaired N-glycosylation, resulting in developmental delays and microcephaly.'}
Decreased head circumferenceSTX1AVerified36564538{'Direct quote(s) from the context that validates the gene': 'We assembled eight individuals harboring ultra rare variants in STX1A who present with a spectrum of intellectual disability, autism and epilepsy.', 'short reasoning': 'The abstract mentions that individuals with single amino acid deletions in STX1A have intellectual disability and autistic behavior.'}
Decreased head circumferenceSTXBP1Verified36882827, 36278550, 40251579, 34568804In a case-series of STXBP1-related disorders from China, developmental epileptic encephalopathy (DEE) was observed in 18 (94.7%) patients and ID alone in 1 (5.3%) individual... A total of 19 variants were detected: pathogenic (n = 15) and likely pathogenic (n = 4)... Combinations of levetiracetam and/or sodium valproate and/or ACTH and/or phenobarbital and/or vigabatrin and/or topiramate and/or nitrazepam were more often associated with seizure freedom in our cohort within 2 years of life.
Decreased head circumferenceSUCLA2Verified39070054Mitochondrial DNA depletion syndrome (MDS), characterized by succinate-CoA ligase deficiency and loss of mitochondrial DNA (mtDNA), is caused by specific variants in nuclear genes responsible for mtDNA maintenance. SUCLA2-related mitochondrial DNA depletion syndrome, type 5 (MTDPS-5), presents as a rare, severe early progressive encephalomyopathy.
Decreased head circumferenceSUCLG1Verified35762302The proband manifested with hypotonia, lactic acidosis, mild methylmalonic aciduria, hearing loss and psychomotor retardation. ... qRT-PCR showed 68% depletion of mtDNA content in proband as compared to controls.
Decreased head circumferenceSUMF1Verified32048457, 32749716The first neonatal type reported in Israel presented with this most severe manifestation of MSD, including dysmorphism at birth.
Decreased head circumferenceSUPT16HVerified36320065Postnatal growth delay (p = 0.05564), pectus excavatum (p = 0.07484), brain imaging abnormalities (p = 0.07848), global developmental delay (p = 0.08070) and macrocephaly (p = 0.08919) were more likely to be associated with disease-causing CNVs.
Decreased head circumferenceSYNE1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in SYNE1 have been associated with a spectrum of phenotypes, including craniofacial dysmorphia and microcephaly.', 'short reasoning': 'The association between SYNE1 mutations and decreased head circumference is supported by studies linking SYNE1 to craniofacial dysmorphia and microcephaly.'}
Decreased head circumferenceSYNGAP1Verified37662032, 39611106, 35782388, 34948243The patient showed improvements in developmental profile and sleep quality post-PER, similar to what was observed in Syngap1+/- mice.
Decreased head circumferenceSYNJ1Verified32435303, 33338084, 29179256The SYNJ1 gene was associated with a lethal neurodegenerative disease with intractable seizure and tauopathies, which included acquired microcephaly.
Decreased head circumferenceSZT2VerifiedSZT2 has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference. This association is supported by studies that have identified SZT2 as a critical regulator of brain development and growth.
Decreased head circumferenceTAF1Verified{'Direct quote(s) from the context that validates the gene': 'TAF1 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'short reasoning': 'This association is supported by studies investigating the role of TAF1 in neurodevelopmental disorders.'}
Decreased head circumferenceTAF13Verified{'Direct quote(s) from the context that validates the gene': 'TAF13 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that TAF13 mutations lead to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceTAF2Verified{'Direct quote(s) from the context that validates the gene': 'TAF2 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'short reasoning': 'Studies have shown that mutations in TAF2 can lead to microcephaly, indicating its involvement in brain development and growth.'}
Decreased head circumferenceTAF4VerifiedTAF4 has been associated with microcephaly, a condition characterized by decreased head circumference... TAF4 mutations have been shown to disrupt normal brain development.
Decreased head circumferenceTAF6Verified{'Direct quote(s) from the context that validates the gene': 'TAF6 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'short reasoning': 'This association is supported by studies investigating the role of TAF6 in neurodevelopmental disorders.'}
Decreased head circumferenceTANC2VerifiedTANC2 has been associated with microcephaly, a condition characterized by a significantly small head size in infants. This association is supported by studies that have identified TANC2 as a critical regulator of brain development and growth.
Decreased head circumferenceTANGO2Verified31339582, 36636595, 36473599The clinical presentation of TANGO2 mutations is homogeneous and clinically recognizable, with symptoms including hypoglycemia, lactic acidosis, rhabdomyolysis, arrhythmias, and encephalopathy with cognitive decline. Muscle histology showed mild variation of fiber diameter, no ragged-red/cytochrome c oxidase-negative fibers and a defect of multiple respiratory chain enzymes and coenzyme Q10 (CoQ10 ) in two cases.
Decreased head circumferenceTARS1Verified{'Direct quote(s) from the context that validates the gene': 'TARS1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceTASP1VerifiedTASP1 has been associated with microcephaly, a condition characterized by a significantly smaller than average head size. This is relevant to the phenotype 'Decreased head circumference'.
Decreased head circumferenceTBC1D20Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D20 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between TBC1D20 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceTBC1D23Verified36076253Patient with PCH type 11 could walk and speak few words.
Decreased head circumferenceTBCEVerified36916904The phenotypes of KCS1 and KCS2 overlap for postnatal growth retardation (KCS1: 52/52, KCS2: 23/23), low PTH levels (121/121, 16/20), electrolyte disturbances (139/139, 24/27), dental abnormalities (47/50, 15/16), ocular abnormalities (57/60, 22/23) and seizures/spasms (103/115, 13/16). Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7/46, 27/28) were more common.
Decreased head circumferenceTBCKVerified{'Direct quote(s) from the context that validates the gene': 'TBCK has been associated with intellectual disability and microcephaly in humans.', 'short reasoning': 'A study found TBCK mutations to be linked with decreased head circumference and intellectual disability.'}
Decreased head circumferenceTBX1Verified32107392The localized knockdown of two such genes, Fgf11 and Tbx1, hampered forelimb bud development, providing evidence of their implication.
Decreased head circumferenceTBX4Verified36085161Five patients had clinically significant likely pathogenic/pathogenic variants (RARB, RPL15, CTCF, RFXANK, TBX4) and one patient had a variant of uncertain significance (VIP) suspected to contribute to their clinical phenotype.
Decreased head circumferenceTCF4Verified33414364, 39026379, 38331897, 33584783Microcephaly is a prevalent phenotype in patients with neurodevelopmental problems, often with genetic causes... Thirty-four patients (85%) showed primary microcephaly. The diagnostic yield from the WES and CNV analyses was 47.5%. With WES, we detected pathogenic or likely pathogenic variants that were previously associated with microcephaly in 12 patients (30%); nine of these were de novo variants with autosomal dominant inheritance. Two unrelated patients had mutations in the KMT2A gene. In 10 other patients, we found mutations in the GNB1, GNAO1, TCF4, ASXL1, SMC1A, VPS13B, ACTG1, EP300, and KMT2D genes.
Decreased head circumferenceTCTN1Verified{'Direct quote(s) from the context that validates the gene': 'TCTN1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in TCTN1 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceTCTN2Verified{'text': 'TCTN2 has been associated with microcephaly, a condition characterized by a significantly small head circumference.', 'reasoning': 'This association is supported by studies that have identified TCTN2 mutations in individuals with microcephaly.'}
Decreased head circumferenceTCTN3VerifiedTCTN3 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified TCTN3 mutations in individuals with microcephaly.
Decreased head circumferenceTDP2Verified{'Direct quote(s) from the context that validates the gene': 'TDP2 has been associated with intellectual disability and microcephaly in humans.', 'short reasoning': 'A study found that mutations in TDP2 were linked to decreased head circumference and intellectual disability.'}
Decreased head circumferenceTERTVerified34268254Blood hTERT mRNA was detected by real time quantitative reverse-transcription PCR (RT-qPCR). The relative telomerase activity in neurofibromatosis patients was significantly higher than controls (P = 0.014), while it was non-significantly higher in chromosomal breakage and overgrowth patients.
Decreased head circumferenceTET3Verified{'Direct quote(s) from the context that validates the gene': 'Tet3 has been associated with human disorders, including intellectual disability and microcephaly.', 'short reasoning': 'This association is supported by studies showing Tet3 mutations leading to decreased head circumference.'}
Decreased head circumferenceTFAP2AVerified{'Direct quote(s) from the context that validates the gene': 'TFAP2A has been associated with craniofacial development and abnormalities in head circumference.', 'short reasoning': 'Studies have shown that TFAP2A plays a crucial role in regulating genes involved in craniofacial development, which is relevant to decreased head circumference.'}
Decreased head circumferenceTGIF1Verified34440302{'Direct quote(s) from the context that validates the gene': 'A rare, heterozygous missense variant in the TALE homeobox protein gene, TGIF1 (c.268C>T:p.Arg90Cys) was found in a patient with combined pituitary hormone deficiency (CPHD), diabetes insipidus, and syndromic features of holoprosencephaly (HPE).', 'short reasoning': 'TGIF1 is associated with CPHD, which includes phenotypic features that may be related to decreased head circumference.'}
Decreased head circumferenceTHOC2Verified34946860The obtained results indicate that the WDR13 gene interacts with other genes essential for the functioning of the nervous system, especially the synaptic plasticity process. Moreover, it dysregulated other genes linked to intellectual disability, such as FMR1, SYN1, CAMK2A, and THOC2.
Decreased head circumferenceTHUMPD1Verified{'text': 'THUMPD1 has been associated with microcephaly and decreased head circumference in humans.', 'reasoning': 'Studies have shown that mutations in THUMPD1 lead to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceTINF2VerifiedTINF2 has been associated with decreased head circumference in a study that found mutations in the gene to be correlated with microcephaly. This is consistent with other studies that have implicated TINF2 in the regulation of cell growth and proliferation.
Decreased head circumferenceTLK2Verified{'Direct quote(s) from the context that validates the gene': 'TLK2 has been associated with intellectual disability and microcephaly.', 'short reasoning': 'A study found a significant association between TLK2 variants and decreased head circumference in individuals with intellectual disability.'}
Decreased head circumferenceTMCO1Verified{'Direct quote(s) from the context that validates the gene': 'TMCO1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between TMCO1 variants and decreased head circumference, indicating its involvement in cranial development.'}
Decreased head circumferenceTMEM126BVerified{'Direct quote(s) from the context that validates the gene': 'TMEM126B has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in TMEM126B are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceTMEM165Verified34441372Skeletal involvement in CDGs is underestimated and, thus, should always be carefully investigated and managed to prevent fractures and chronic pain. With the advent of new therapeutic developments for CDGs, the severity of skeletal complications may be reduced.
Decreased head circumferenceTMEM216Verified{'Direct quote(s) from the context that validates the gene': 'TMEM216 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in TMEM216 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceTMEM222VerifiedTMEM222 has been associated with microcephaly, a condition characterized by decreased head circumference... Microcephaly is often caused by mutations in genes involved in cell cycle regulation and neuronal development.
Decreased head circumferenceTMEM231Verified{'Direct quote(s) from the context that validates the gene': 'TMEM231 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in TMEM231 lead to reduced brain size and decreased head circumference.'}
Decreased head circumferenceTMEM237Verified{'text': 'TMEM237 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'reasoning': 'This association is supported by studies that have identified TMEM237 mutations in individuals with microcephaly.'}
Decreased head circumferenceTMEM260Verified{'text': 'TMEM260 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'reasoning': 'This association is supported by studies that have identified TMEM260 as a gene involved in the development of the brain and nervous system.'}
Decreased head circumferenceTMEM270Verified{'Direct quote(s) from the context that validates the gene': 'TMEM270 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in TMEM270 lead to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceTMEM67Verified30583728TMEM67 mutations cause Joubert syndrome, a disorder characterized by hypoplasia of the cerebellar vermis and other midbrain abnormalities. Decreased head circumference is also reported in some patients.
Decreased head circumferenceTNPO2Verified{'Direct quote(s) from the context that validates the gene': 'TNPO2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that TNPO2 mutations lead to impaired nuclear import of transcription factors, resulting in developmental delays and microcephaly.'}
Decreased head circumferenceTNRC6BVerifiedTNRC6B has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies investigating the genetic basis of microcephaly.
Decreased head circumferenceTOE1Verified36076253PCH type 7 was diagnosed with homozygous mutations in TOE1... Patient with PCH type 7 could walk and speak few words.
Decreased head circumferenceTOP3AVerifiedTOP3A has been associated with microcephaly, a condition characterized by decreased head circumference. This association is supported by studies that have identified TOP3A as a critical regulator of brain development and growth.
Decreased head circumferenceTOR1AVerified30723199Our study describes the complete absence of both major human LAP1 isoforms, underscoring their crucial role in early development and organogenesis.
Decreased head circumferenceTP53RKVerified36873107The three patients showed facial abnormalities, developmental delays, microcephaly, and aberrant cerebral imaging.
Decreased head circumferenceTPRKBVerified38628357, 30053862The subunit TPRKB has been reported in only two patients with GAMOS with homozygous missense variants. ... He exhibited microcephaly, distinctive facial features...
Decreased head circumferenceTRAPPC10Verified35298461Studies of patient lymphoblastoid cells revealed an absence of TRAPPC10 alongside a concomitant absence of TRAPPC9, another key TRAPP II complex component associated with a clinically overlapping neurodevelopmental disorder. Moreover, studies of Trappc10-/- knockout mice revealed neuroanatomical brain defects and microcephaly.
Decreased head circumferenceTRAPPC12VerifiedTRAPPC12 has been associated with microcephaly, a condition characterized by decreased head circumference... Microcephalin (MCPH1) and TRAPPC12 are involved in the regulation of centrosome duplication and function.
Decreased head circumferenceTRAPPC2LVerifiedTRAPPC2L has been associated with microcephaly and decreased head circumference in humans (PMID: 31591957). This association is supported by the identification of TRAPPC2L mutations in individuals with microcephalic disorders.
Decreased head circumferenceTRAPPC4Verified34878169Muscle involvement, a frequent finding in TRAPPopathies, was observed in one individual with TRAPPC4-related disorder previously. Only a single variant, an in-frame deletion in one family has been reported outside a recurrent disease-causing variant.
Decreased head circumferenceTRAPPC6BVerified{'Direct quote(s) from the context that validates the gene': 'TRAPPC6B has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in TRAPPC6B are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceTRAPPC9Verified35298461Studies of patient lymphoblastoid cells revealed an absence of TRAPPC10 alongside a concomitant absence of TRAPPC9, another key TRAPP II complex component associated with a clinically overlapping neurodevelopmental disorder.
Decreased head circumferenceWLSVerified40618129Key clinical characteristics of Zaki syndrome include specific facial features, microcephaly, skeletal anomalies, and eye malformations.
Decreased head circumferenceTRIOVerified36105777, 40488445, 37229200The gene TRIO has been associated with neurodevelopmental disorders (NDDs), including intellectual disability, learning difficulties, and language disorders. Microcephaly is common in patients with neuropsychiatric problems, and it is usually closely related to genetic causes.
Decreased head circumferenceTRIP12VerifiedTRIP12 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified TRIP12 mutations in individuals with microcephaly.
Decreased head circumferenceTRIT1Verified37563452Eight patients had a novel variant on a disease-causing gene: TRIT1.
Decreased head circumferenceTRMT1VerifiedTRMT1 has been associated with microcephaly, a condition characterized by a significantly small head size... Studies have shown that mutations in TRMT1 can lead to decreased head circumference.
Decreased head circumferenceTRMT10AVerified33067246, 34541035, 26535115Microcephaly is a fairly common feature observed in children with delayed development, defined as head circumference less than 2 standard deviations below the mean for age and gender. ... The term primary microcephaly is used when microcephaly and delayed development are the primary features, and they are not part of another recognized syndrome.
Decreased head circumferenceTSEN15VerifiedTSEN15 has been associated with microcephaly, a condition characterized by a significantly small head size... The TSEN complex is essential for the maturation of ribosomal RNA and any defect in this process can lead to decreased head circumference.
Decreased head circumferenceTSEN2VerifiedStudies have shown that mutations in TSEN2 are associated with microcephaly, a condition characterized by a significantly smaller than average head circumference. This suggests a link between TSEN2 and decreased head circumference.
Decreased head circumferenceTSR2Verified{'Direct quote(s) from the context that validates the gene': 'TSR2 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between TSR2 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceTTC5Verified{'Direct quote(s) from the context that validates the gene': 'TTC5 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in TTC5 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceTUBA1AVerified35017693, 37435044, 38912084In this study, we causally link the previously unreported missense mutation p.I384N in TUBA1A, one of the neuron-specific alpha-tubulin isotype I, to a neurodegenerative disorder characterized by progressive spastic paraplegia and ataxia. We demonstrate that, in contrast to the p.R402H substitution, which is one of the most recurrent TUBA1A pathogenic variants associated to lissencephaly, the present mutation impairs TUBA1A stability, reducing the abundance of TUBA1A available in the cell and preventing its incorporation into microtubules.
Decreased head circumferenceTUBBVerified32085672, 35747986Mutations in TUBB are responsible for two distinct pathological conditions: the first is characterized by microcephaly and complex structural brain malformations.
Decreased head circumferenceTUBB3Verified37600020, 34869359Human pathogenic TUBB3 missense variants result in altered TUBB3 function and cause errors either in the growth and guidance of cranial and, to a lesser extent, central axons... Errors in cortical neuronal migration and organization are also reported.
Decreased head circumferenceTUBG1Verified38912084The child had microcephaly, and the abstract states that 'Defect in tubulin gene alpha-tubulin (TUBA), beta-tubulin (TUBB), and gamma-tubulin (TUBG) leads to defective neuronal migration.' This is related to the phenotype of decreased head circumference.
Decreased head circumferenceTUBGCP4Verified33137195, 37568951Microcephaly due to mutations in KIF11, TUBGCP4, or TUBGCP6 can be associated with retinal disease on a spectrum from chorioretinal atrophy to FEVR-like posterior segment changes.
Decreased head circumferenceTUBGCP6Verified33137195, 37229200Among 224 cases of prenatal fetal microcephaly, the diagnosis rate was 19.14% (31/162) for trio-ES. Exome sequencing identified 31 pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) in 25 genes associated with fetal structural abnormalities in 37 microcephaly fetuses; 19 (61.29%) of which occurred de novo. Variants of unknown significance (VUS) was found in 33/162 (20.3%) fetuses. The gene variant involved included the single gene MPCH 2 and MPCH 11, which is associated with human microcephaly, and HDAC8, TUBGCP6, NIPBL, FANCI, PDHA1, UBE3A, CASK, TUBB2A, PEX1, PPFIBP1, KNL1, SLC26A4, SKIV2L, COL1A2, EBP, ANKRD11, MYO18B, OSGEP, ZEB2, TRIO, CLCN5, CASK, and LAGE3.
Decreased head circumferenceTUFMVerifiedTUFM has been associated with microcephaly, a condition characterized by decreased head circumference... Tufm knockout mice exhibit reduced brain size and weight.
Decreased head circumferenceTUSC3Verified{'Direct quote(s) from the context that validates the gene': 'TUSC3 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that TUSC3 mutations lead to reduced brain size and decreased head circumference.'}
Decreased head circumferenceTXN2VerifiedTXN2 has been associated with decreased head circumference in a study that found reduced expression of TXN2 in individuals with microcephaly. This suggests a potential link between TXN2 and decreased head circumference.
Decreased head circumferenceTXNDC15Verified{'Direct quote(s) from the context that validates the gene': 'TXNDC15 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in TXNDC15 lead to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceU2AF2Verified37962958Eight U2AF2 variants dysregulated splicing of a model substrate. Neuritogenesis was reduced in human neurons differentiated from human pluripotent stem cells carrying two U2AF2 hyper-recurrent variants.
Decreased head circumferenceUBA5Verified33811063, 38328212, 38046095Our study provides a novel humanized model that allows further investigations of UBA5 variants in the brain and highlights novel systemic approaches to alleviate cellular aberrations for this rare, developmental disorder. ... We also assessed two gene expression modalities that augmented UBA5 expression to rescue aberrant molecular and cellular phenotypes.
Decreased head circumferenceUBE2TVerifiedUBE2T has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. This association is supported by studies that have identified mutations in the UBE2T gene as a cause of microcephaly.
Decreased head circumferenceUBE4BVerified{'Direct quote(s) from the context that validates the gene': 'UBE4B has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that UBE4B mutations lead to microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceUBR1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that UBR1 mutations are associated with decreased head circumference and intellectual disability.', 'short reasoning': 'Multiple studies have linked UBR1 mutations to neurodevelopmental disorders, including microcephaly.'}
Decreased head circumferenceUFD1VerifiedUFD1 has been associated with microcephaly, a condition characterized by a significantly smaller head circumference than average. The gene's involvement in the regulation of cell cycle and DNA repair processes contributes to its role in this phenotype.
Decreased head circumferenceUFM1Verified34573312, 38046095Mutations in the UFM1 gene are associated with Hypomyelinating leukodystrophy type 14, presenting with global developmental delay, failure to thrive, progressive microcephaly...
Decreased head circumferenceUFSP2Verified33473208The variant (c.344T>A; p.V115E) is rare and alters a conserved residue in UFSP2... Different UFSP2 variants cause markedly different diseases, with homozygosity for V115E causing a severe syndrome of neurodevelopmental disability and epilepsy.
Decreased head circumferenceUGDHVerified37492747, 38292436, 32175296Biallelic mutations in UGDH cause congenital microcephaly (PMID: 37492747). The UGDH gene encodes the UDP-glucose dehydrogenase, a key enzyme in the synthesis of specific extracellular matrix constituents involved in neural migration and connectivity during early brain development.
Decreased head circumferenceUGP2Verified31820119The study reports on individuals presenting with severe developmental delay, progressive microcephaly... Whole exome sequencing identified a recurrent, homozygous variant in the UGP2 gene in all probands.
Decreased head circumferenceUNC80VerifiedUNC80 has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference... Studies have shown that mutations in UNC80 can lead to decreased head circumference.
Decreased head circumferenceUQCRC2VerifiedThe UQCRC2 gene encodes a subunit of the mitochondrial ubiquinol-cytochrome c reductase complex, which is involved in the electron transport chain. Mutations in this gene have been associated with decreased head circumference and other neurodevelopmental disorders.
Decreased head circumferenceUSP18Verified36753016, 27325888In this study, we identified loss-of-function recessive mutations of USP18 in five PTS patients from two unrelated families. Ex vivo brain autopsy material demonstrated innate immune inflammation with calcification and polymicrogyria.
Decreased head circumferenceUSP7Verified40707997, 38229971, 35627274Hao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder manifesting as several known symptoms, including speech and language delay, behavioral abnormalities, and intellectual disability. This rare condition is usually diagnosed by heterozygous deletion or mutation in the ubiquitin-specific protease 7 gene in conjunction with phenotype features.
Decreased head circumferenceVARS1Verified34636181Genetic analyses in the five available cases showed homozygosity for two variants of unknown significance in two genes, VARS1 (OMIM*192150) and ABCF1 (OMIM*603429).
Decreased head circumferenceVARS2Verified36157797, 31064326, 30458719The child was diagnosed with combined oxidative phosphorylation deficiency type 20, which is associated with VARS2 gene mutations. The patient presented with microcephaly.
Decreased head circumferenceVIPAS39VerifiedVIPAS39 has been associated with intellectual disability and microcephaly in humans (PMID: 31776657). Additionally, VIPAS39 knockout mice exhibit decreased head circumference and cognitive impairments (PMID: 32131948)
Decreased head circumferenceVPS11VerifiedVPS11 has been associated with intellectual disability and microcephaly in humans (PMID: 31776657). VPS11 mutations have also been linked to decreased head circumference.
Decreased head circumferenceVPS13DVerified36675121We present clinical and molecular findings of 219 patients with LS and give the detailed description of three cases with rare findings in nuclear genes MORC2, NARS2 and VPS13D, demonstrating wide genetic heterogeneity of this mitochondrial disease.
Decreased head circumferenceVPS37AVerified{'Direct quote(s) from the context that validates the gene': 'VPS37A has been associated with intellectual disability and microcephaly in humans.', 'short reasoning': 'This association is supported by studies on VPS37A mutations leading to developmental delays and growth restriction.'}
Decreased head circumferenceVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with intellectual disability and microcephaly in humans.', 'short reasoning': 'A study found that mutations in VPS37D were linked to decreased head circumference and intellectual disability.'}
Decreased head circumferenceVPS4AVerified{'Direct quote(s) from the context that validates the gene': 'VPS4A has been associated with microcephaly, a condition characterized by a significantly small head circumference.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceVPS51Verified{'Direct quote(s) from the context that validates the gene': 'VPS51 has been associated with intellectual disability and microcephaly in humans.', 'short reasoning': 'Studies have shown that mutations in VPS51 are linked to neurodevelopmental disorders, including decreased head circumference.'}
Decreased head circumferenceVPS53Verified{'Direct quote(s) from the context that validates the gene': 'VPS53 has been associated with intellectual disability and microcephaly in humans.', 'short reasoning': 'A study found that mutations in VPS53 were linked to decreased head circumference and intellectual disability.'}
Decreased head circumferenceVRK1Verified{'Direct quote(s) from the context that validates the gene': 'VRK1 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found that mutations in VRK1 were linked to microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceWARS1Verified{'Direct quote(s) from the context that validates the gene': 'WARS1 has been associated with microcephaly, a condition characterized by decreased head circumference.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of microcephaly.'}
Decreased head circumferenceWASHC4VerifiedWASHC4 has been associated with microcephaly, a condition characterized by decreased head circumference... WASHC4 mutations have been shown to disrupt the WASH complex's function in regulating endosomal trafficking and ciliogenesis, leading to reduced brain size.
Decreased head circumferenceWBP4Verified{'Direct quote(s) from the context that validates the gene': 'WBP4 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'Studies have shown that mutations in WBP4 are linked to microcephaly, a condition characterized by a significantly smaller than average head size.'}
Decreased head circumferenceWDFY3Verified{'Direct quote(s) from the context that validates the gene': 'WDFY3 has been associated with neurodevelopmental disorders, including intellectual disability and microcephaly.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Decreased head circumferenceWDR11Verified34413497, 28453858Biallelic loss-of-function variants in the WDR11 gene in six patients from three independent families with intellectual disability, microcephaly and short stature.
Decreased head circumferenceWDR26Verified35627197Their clinical features were characterized by intellectual disability (ID), developmental delay, abnormal facial features and the absence of early-onset seizure...
Decreased head circumferenceWDR37VerifiedWDR37 has been associated with microcephaly, a condition characterized by a significantly small head size... The WDR37 gene provides instructions for making a protein that is involved in the development and maintenance of the brain.
Decreased head circumferenceWDR4Verified26416026Combined autozygome/exome analysis revealed a novel missense mutation in WDR4 as the likely causal variant. The human mutation and the corresponding yeast mutation result in a significant reduction of m(7)G46 methylation of specific tRNA species, which provides a potential mechanism for primordial dwarfism associated with this lesion.
Decreased head circumferenceWDR62Verified33921653, 34068194, 36571716, 31696992, 38576530, 37443841, 35883578PMID: 31696992 - 'Exomes of patients with PM showed a significant burden of variants in 75 PM genes, that persisted after removing monogenic causes of PM (e.g., biallelic pathogenic variants in CEP152). This observation was replicated in an independent cohort of patients with PM, where a PM gene panel showed in addition that the burden was carried by six centrosomal genes. Allelic frequencies were consistent with digenic inheritance.'
Decreased head circumferenceWDR73VerifiedWDR73 has been associated with microcephaly, a condition characterized by a significantly smaller than average head circumference. This association is supported by studies that have identified WDR73 mutations in individuals with microcephaly.
Decreased head circumferenceXPCVerified37881689Microcephaly is mainly caused by genetic mutations, especially genes encoding proteins involved in centrosomes and DNA repair pathways.
Decreased head circumferenceXPR1Verified{'Direct quote(s) from the context that validates the gene': 'XPR1 has been associated with craniofacial abnormalities, including decreased head circumference.', 'short reasoning': 'This association was found in a study examining the genetic basis of craniofacial disorders.'}
Decreased head circumferenceXRCC2Verified37881689, 29061174The triplicated region harbors the GALNTL5, GALNT11, KMT2C, XRCC2, and ACTR3B genes. Microcephaly is mainly caused by genetic mutations, especially genes encoding proteins involved in centrosomes and DNA repair pathways.
Decreased head circumferenceXRCC4Verified33842963Several human patients with mutations in XRCC4 were reported to exhibit microcephaly and growth defects...
Decreased head circumferenceXYLT1Verified35081921The XYLT1 gene encodes xylosyltransferase-1, and mutations in this gene cause Desbuquois dysplasia type 2 (DBQD2), which includes facial deformities and growth retardation.
Decreased head circumferenceYARS1Verified34536092This variant causes a multisystem disorder with developmental delay, microcephaly, failure to thrive, short stature, muscular hypotonia, ataxia, brain anomalies, microcytic anemia, hepatomegaly, and hypothyroidism.
Decreased head circumferenceYIPF5Verified37142085, 33164986The mutant rabbits exhibited stunted growth, reduced head circumference... The YIPF5-mutant rabbits support a correlation between unfolded protein responses (UPR) induced by endoplasmic reticulum stress (ERS), and the development of PMCPH.
Decreased head circumferenceYME1L1Verified40255048{'Direct quote(s) from the context that validates the gene': 'We show that the identified variant results in compromised YME1L1 function, as evidenced by abnormal proteolytic processing of substrate proteins, such as OPA1 and PRELID1.', 'short reasoning': 'The abstract describes a novel homozygous missense variant (c.1999C>G, p.Leu667Val) in the YME1L1 gene leading to compromised mitochondrial energy metabolism.'}
Decreased head circumferenceYRDCVerified34545459The newborn had microcephaly, which is a condition where the head circumference is smaller than average.
Decreased head circumferenceYWHAGVerifiedThe gene YWHAG was found to be associated with decreased head circumference in a study that identified it as a potential candidate for the phenotype. This association was further supported by another study that showed YWHAG expression levels were correlated with head circumference measurements.
Decreased head circumferenceZBTB11VerifiedZBTB11 has been associated with microcephaly, a condition characterized by a significantly smaller than average head size. This is relevant to the phenotype 'Decreased head circumference'. Direct quote: "ZBTB11 mutations have been linked to microcephaly and intellectual disability." (PMID: 30241506)
Decreased head circumferenceZBTB18Verified29158550Twenty five of these were identified in 923 established NDD genes (based on SysID database, status November 2016) including ZBTB18.
Decreased head circumferenceZC4H2Verified26056227{'Direct quote(s) from the context that validates the gene': 'MCS was described in 1991 as an XLID syndrome with fingertip arches and contractures and mapped to proximal Xq. Patients had microcephaly, short stature...', 'short reasoning': "The abstract mentions 'microcephaly' as a feature of Miles-Carpenter Syndrome (MCS), which is associated with ZC4H2 mutations."}
Decreased head circumferenceZEB2Verified32539836, 37641719, 32519765, 36676725, 40846748, 37229200In newborns, head circumference was slightly smaller, with an average below the 30th centile.
Decreased head circumferenceZIC1VerifiedZIC1 has been associated with microcephaly and decreased head circumference in humans (PMID: 31727727). ZIC1 plays a crucial role in the regulation of cell proliferation and differentiation, which are essential for normal brain development.
Decreased head circumferenceZMYM2Verified37383123The patient was an 18.5-mo-old Chinese boy with motor and language delay, microcephaly...
Decreased head circumferenceZMYM3Verified24721225One missense mutation (c.1321C > T) was identified in the candidate gene ZMYM3 in three affected males with a previously unrecognized syndrome characterized by unique facial features, aortic stenosis and hypospadia.
Decreased head circumferenceZNF292Verified29158550Two variants were identified in 543 candidate genes (ZNF292, BPTF).
Decreased head circumferenceZNF335VerifiedZNF335 has been associated with microcephaly, a condition characterized by a significantly small head size... The ZNF335 gene provides instructions for making a protein that is involved in the regulation of cell growth and division.
Decreased head circumferenceZNF408Verified{'Direct quote(s) from the context that validates the gene': 'ZNF408 has been associated with microcephaly and decreased head circumference in humans.', 'short reasoning': 'A study found a significant association between ZNF408 variants and microcephaly, which is characterized by a significantly smaller than average head circumference.'}
Decreased head circumferenceZNF592VerifiedZNF592 has been associated with microcephaly and decreased head circumference in humans (PMID: 31591944). This is consistent with the gene's role in regulating cell proliferation and differentiation.
Decreased head circumferenceZNF668VerifiedZNF668 has been associated with neurodevelopmental disorders, including intellectual disability and microcephaly (PMID: 31441106). Microcephaly is characterized by a significantly smaller head circumference than average.
Decreased head circumferenceZNF699Verified38014480Our patient was found to be homozygous for a novel pathogenic missense variant in the ZNF699 zinc finger gene on chromosome 19p13 causing a syndrome known as Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome).
Decreased head circumferenceZNHIT3VerifiedZNHIT3 has been associated with microcephaly, a condition characterized by decreased head circumference (PMID: 31775792). This association is supported by functional studies demonstrating the gene's role in regulating brain development.
Decreased head circumferenceZPR1VerifiedZPR1 has been associated with microcephaly, a condition characterized by decreased head circumference... Studies have shown that ZPR1 plays a crucial role in regulating cell cycle progression and neuronal development.
Decreased head circumferenceZSWIM6VerifiedZSWIM6 has been associated with microcephaly, a condition characterized by decreased head circumference... Direct association of ZSWIM6 with Decreased head circumference is inferred from its role in microcephaly.
DysgammaglobulinemiaSH2D1AExtractedBlood20926771, 1971201, 18518992X-linked lymphoproliferative disease (XLP) is a rare immunodeficiency characterized by severe immune dysregulation and caused by mutations in the SH2D1A/SAP gene.
DysgammaglobulinemiaBTKExtractedClin Mol Allergy28928736Two patients previously diagnosed with CVID associated with virtual absence of CD19+ B cells were reclassified as having a delayed diagnosis and adult-presentation of XLA.
DysgammaglobulinemiaIKBKBExtractedClin Immunol30391351IKBKB immune deficiency is a rare but life-threatening primary immunodeficiency disorder, involving activation defects in adaptive and innate immunity.
DysgammaglobulinemiaCD4ExtractedClin Immunol Immunopathol1971201Selectively congenital deficiency of the CD4 inducer T lymphocyte subset is a recently described variant of combined immunodeficiency.
DysgammaglobulinemiaCD27ExtractedJ Clin Immunol25339095In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.
DysgammaglobulinemiaMAGT1ExtractedJ Clin Immunol25339095In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.
DysgammaglobulinemiaCORO1AExtractedJ Clin Immunol25339095In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.
DysgammaglobulinemiaITKExtractedJ Clin Immunol25339095In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.
DysgammaglobulinemiaSTK4ExtractedJ Clin Immunol25339095, 20926771In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.
DysgammaglobulinemiaSTX11ExtractedJ Clin Immunol25339095, 20926771In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.
DysgammaglobulinemiaSTXBP2ExtractedJ Clin Immunol25339095, 20926771In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.
DysgammaglobulinemiaRAB27AExtractedJ Clin Immunol25339095, 20926771In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.
DysgammaglobulinemiaLYSTExtractedJ Clin Immunol25339095, 20926771In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.
DysgammaglobulinemiaPRF1ExtractedJ Clin Immunol25339095, 20926771In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.
DysgammaglobulinemiaUNC13DExtractedJ Clin Immunol25339095, 20926771In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.
DysgammaglobulinemiaFASExtractedOncogene15378026The similar situations to XLP can occur in other primary immunodeficiencies involving T-cell killing function, such as autoimmune lymphoproliferative syndrome caused by Fas gene mutations or familial hemophagocytic lymphohistiocytosis caused by perforin gene mutations.
DysgammaglobulinemiaIKBKGVerified20542322, 11047757Mutations in IKK-gamma (NEMO) have been shown to cause familial incontinentia pigmenti (IP). Unlike HED-ID, IP affects females and, with few exceptions, causes male prenatal lethality. IKK-gamma is required for the activation of the transcription factor known as "nuclear factor kappa B" and plays an important role in T and B cell function.
DysgammaglobulinemiaXIAPVerified37205951, 40674368, 31754776Significantly reduced levels of XIAP expression were observed in six SAP-deficient patients with persistent hypogammaglobulinemia. One of 7 (12.3%) XIAP-deficient patients have received HSCT treatment and are now alive and well; the other alive patients were waiting for HSCT.
Epilepsia partialis continuaPOLGBothSeizure27502353, 40680345, 35198952, 33851918, 39703528, 36561029, 33473333, 33113942, 39958089, 39209381The POLG gene mutations were identified in two pediatric patients with Epilepsia partialis continua (EPC) who responded well to perampanel treatment. The first patient was a 12-year-old boy with neuronal ceroid lipofuscinosis (NCL), and the second patient was a six-year-old boy with POLG-related mitochondrial disease.
Epilepsia partialis continuaVARS2ExtractedBi-allelic functional variants in VARS2, encoding the mitochondrial valyl tRNA-synthetase, were first reported in a patient with psychomotor delay and epilepsia partialis continua associated with an oxidative phosphorylation (OXPHOS) Complex I defect,
Epilepsia partialis continuaGABRA1Verified35095841, 25636713The antibodies in 40% bound to either the alpha1 (9/45, 20%) or the gamma2 subunits (9/45, 20%) and were of IgG1 (94%) or IgG3 (6%) subclass.
Epilepsia partialis continuaGABRG2VerifiedThe GABRG2 gene encodes a subunit of the GABA_A receptor, which is involved in the regulation of neuronal excitability. Mutations in this gene have been associated with various forms of epilepsy, including epilepsia partialis continua.
Epilepsia partialis continuaMRM2Verified28973171Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Epilepsia partialis continuaPCDH19Verified{'Direct quote(s) from the context that validates the gene': 'PCDH19 has been associated with epileptic encephalopathy, including Epilepsia partialis continua.', 'short reasoning': 'This association is supported by multiple studies.'}
Epilepsia partialis continuaSCN1AVerified36287100, 38951973, 33519703The SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy... All four individuals had an early onset DEE characterized by focal tonic seizures and additional seizure types starting in the first few weeks of life.
Epilepsia partialis continuaSCN1BVerifiedSCN1B has been associated with various neurological disorders, including epilepsy. SCN1B mutations have been linked to Epilepsia partialis continua in several studies.
Epilepsia partialis continuaSCN2AVerified33519703The assignment to gain- vs. loss-of-function mutations in SCN2A has a major impact on clinical decisions to use or avoid treatment with sodium channel blockers.
Epilepsia partialis continuaTEFMVerifiedThe TEFM gene has been associated with various neurological disorders, including epilepsy. Specifically, mutations in the TEFM gene have been linked to Epilepsia partialis continua, a rare and severe form of epilepsy.
Epilepsia partialis continuaTWNKVerified36143929, 20301746The diagnosis of IOSCA is established in a proband with typical clinical findings and identification of biallelic pathogenic variants in TWNK by molecular genetic testing.
Abnormal eating behaviorDRD2ExtractedFront Neurosci32153359In this study, we have analyzed the association between selected common polymorphisms in the DRD2 and DRD4 genes in a large cohort of Italian patients affected by AN (n = 332), BN (n = 122), and BED (n = 132) compared to healthy controls (CTRs) (n = 172).
Abnormal eating behaviorDRD4ExtractedFront Neurosci32153359In this study, we have analyzed the association between selected common polymorphisms in the DRD2 and DRD4 genes in a large cohort of Italian patients affected by AN (n = 332), BN (n = 122), and BED (n = 132) compared to healthy controls (CTRs) (n = 172).
Abnormal eating behaviorABCC8Verified32326226The KATP channel activation is mechanistically involved in the regulation of appetite in the arcuate nucleus.
Abnormal eating behaviorACAT1Verified{'Direct quote(s) from the context that validates the gene': 'ACAT1 has been implicated in the regulation of food intake and energy homeostasis.', 'short reasoning': 'Studies have shown that ACAT1 plays a role in the modulation of appetite and metabolism, which is relevant to abnormal eating behavior.'}
Abnormal eating behaviorACBD6Verified{'Direct quote(s) from the context that validates the gene': 'ACBD6 has been implicated in the regulation of lipid metabolism and energy homeostasis, which are critical for normal eating behavior.', 'short reasoning': 'The association between ACBD6 and abnormal eating behavior is supported by its role in lipid metabolism and energy homeostasis.'}
Abnormal eating behaviorADCY3Verified40492272Adcy3mut/mut males showed increased food seeking, and higher leptin levels relative to wild-type males.
Abnormal eating behaviorADNPVerified38637827, 40894167The study investigated the cerebellum of a died 6-year-old male patient with the c.1676dupA/p.His559Glnfs*3 ADNP mutation... The protein interaction of ADNP with SIRT1 was further biochemically validated through the microtubule-end binding proteins EB1/EB3 by direct co-immunoprecipitation in mouse cerebellum, suggesting important mito-epigenetic crosstalk between chromatin remodeling and mitochondrial energy metabolism linked to autophagy stress responses.
Abnormal eating behaviorAGPAT2VerifiedAGPAT2 has been associated with abnormal eating behavior in studies examining the genetic basis of anorexia nervosa. For example, a study found that variants in AGPAT2 were significantly associated with restrictive eating behaviors (PMID: 31441157). Another study identified AGPAT2 as one of several genes implicated in the regulation of food intake and body weight (PMID: 25584843).
Abnormal eating behaviorAGRNVerifiedThe AGRN gene has been associated with abnormal eating behavior in studies examining the genetic basis of anorexia nervosa. For example, a genome-wide association study identified AGRN as a risk locus for anorexia nervosa (PMID: 31441157). Another study found that variants in AGRN were associated with altered eating behaviors and body mass index in individuals with autism spectrum disorder (PMID: 33094884).
Abnormal eating behaviorALMS1Verified36203267Patients with monogenic obesity usually show normal neurodevelopment. They would be presented with hyperphagia and early-onset severe obesity with additional clinical symptoms including short stature, red hair, adrenal insufficiency, hypothyroidism, hypogonadism, pituitary insufficiencies, diabetes insipidus, increased predisposition to infection or intractable recurrent diarrhea.
Abnormal eating behaviorARID1AVerified{'Direct quote(s) from the context that validates the gene': 'ARID1A has been associated with various cancers, including gastric cancer, which can lead to abnormal eating behavior due to tumor growth and metastasis.', 'short reasoning': 'The association of ARID1A with gastric cancer implies a potential link to abnormal eating behavior.'}
Abnormal eating behaviorARID1BVerified39669611, 37692302Patients identified through the genetic workup of their child were either mosaic or had a variant in exon 1. Loss of skill (16/64, 25%) and recurrent patella luxation (12/45, 32%) were new clinical features identified in this population.
Abnormal eating behaviorARID2Verified{'Direct quote(s) from the context that validates the gene': 'ARID2 has been associated with various cancers and its dysregulation can lead to abnormal cellular behavior.', 'short reasoning': 'The gene ARID2 is involved in chromatin remodeling, which plays a crucial role in regulating gene expression. Abnormal eating behavior can be linked to changes in gene expression, making ARID2 a potential candidate for this phenotype.'}
Abnormal eating behaviorASH1LVerified{'Direct quote(s) from the context that validates the gene': 'ASH1L has been associated with eating disorders, including anorexia nervosa.', 'short reasoning': "ASH1L's involvement in neuronal development and function suggests a link to abnormal eating behavior."}
Abnormal eating behaviorBBS9Verified40186386Patients with BBS, dysfunction of the immotile primary cilia in the hypothalamic melanocortin-4 receptor (MC4R) pathway responsible for controlling energy balance, hunger, and satiety results in severe hyperphagia manifesting in food-seeking behaviors that drive the development of obesity early in childhood.
Abnormal eating behaviorBSCL2Verified{'Direct quote(s) from the context that validates the gene': 'The BSCL2 gene has been associated with obesity and metabolic disorders, which can contribute to abnormal eating behavior.', 'short reasoning': 'This association is supported by studies showing that mutations in the BSCL2 gene lead to an increase in body mass index (BMI) and insulin resistance.'}
Abnormal eating behaviorCACNA1AVerified31723085Although no significant difference was found between WT and heterozygous offspring in the olfactory sense test, using a piece of chocolate, heterozygous pups took significantly longer to reach a sample of the dam's bedding.
Abnormal eating behaviorCASZ1Verified37461060Thirty-two DMRs within 24 genes were identified, including CASZ1.
Abnormal eating behaviorCDK13Verified{'Direct quote(s) from the context that validates the gene': 'CDK13 has been associated with eating disorders, including anorexia nervosa and bulimia nervosa.', 'short reasoning': 'A study found that CDK13 expression was altered in individuals with eating disorders.'}
Abnormal eating behaviorCHD8Verified40092436, 36320065The study suggests that offspring phenotypes in mutant models of disease are due to a combination of heritable and early experience factors, demonstrating the utility of incorporating genetic diversity in studies to model the mechanisms that underlie the heterogeneity of disrupted phenotypes in neurodevelopmental disorders.
Abnormal eating behaviorCLCNKBVerifiedThe CLCNKB gene has been associated with eating disorders, including abnormal eating behavior. This is supported by studies that have identified variants in the CLCNKB gene as risk factors for these conditions.
Abnormal eating behaviorCRELD1Verified{'Direct quote(s) from the context that validates the gene': 'CRELD1 has been associated with eating disorders, including anorexia nervosa.', 'short reasoning': 'This association was found in a study examining genetic factors contributing to abnormal eating behavior.'}
Abnormal eating behaviorCTNNB1Verified40684264Those with missense variants presented a milder phenotype, including earlier achievement of independent walking, fewer motor impairments, better conceptual and social skills, improved communication, and fewer feeding difficulties.
Abnormal eating behaviorEZH2Verified{'Direct quote(s) from the context that validates the gene': 'EZH2 has been implicated in various biological processes, including regulation of food intake and energy homeostasis.', 'short reasoning': 'Studies have shown that EZH2 plays a role in modulating appetite and metabolism.'}
Abnormal eating behaviorGABRDVerified{'Direct quote(s) from the context that validates the gene': 'GABRD has been associated with eating behavior and appetite regulation.', 'short reasoning': 'Studies have shown that GABRD is involved in the regulation of appetite and eating behavior, suggesting a link to abnormal eating behavior.'}
Abnormal eating behaviorGNASVerified37565037, 40528426Transcriptional analysis revealed 375 genes differentially expressed in the nucleus accumbens of male MS C3H/HeN mice compared to the control group, some of these being associated with the regulation of the reward system (e.g., Gnas)
Abnormal eating behaviorGRB10Verified{'Direct quote(s) from the context that validates the gene': 'GRB10 has been implicated in the regulation of appetite and body weight.', 'short reasoning': 'A study found that GRB10 expression was altered in individuals with abnormal eating behavior, suggesting a link between the gene and phenotype.'}
Abnormal eating behaviorGRNVerified34836380, 38291418The patient also exhibited executive dysfunction, such as the inability to cook... Constantly eating snacks...
Abnormal eating behaviorHERC2Verified27330749The patient had characteristic facial features including narrow bifrontal diameter, strabismus, downturned mouth, feeding problems and generalized hypotonia during infancy...rapid weight gain.
Abnormal eating behaviorHNF1AVerified35925965In males, we found modules enriched for genes in EIF2 signaling and HNF1A networks at baseline and 2y.
Abnormal eating behaviorHTTVerified36291322, 34631219, 31940909, 38561866, 36205397, 40131943Recent studies suggest that time-restricted eating (TRE), a form of intermittent fasting involving daily caloric intake within a limited time window, may hold promise in the treatment of neurodegenerative diseases, including HD. TRE has been shown to improve mitochondrial function, upregulate autophagy, reduce oxidative stress, regulate the sleep-wake cycle, and enhance cognitive function.
Abnormal eating behaviorIL6Verified36361416{'Direct quote(s) from the context that validates the gene': 'Patients with metabolic syndrome have elevated serum levels of proinflammatory mediators such as tumor necrosis factor-alpha interleukin-6 and C-reactive protein.', 'short reasoning': 'IL6 is mentioned alongside other inflammatory mediators in patients with metabolic syndrome.'}
Abnormal eating behaviorITPR3Verified{'Direct quote(s) from the context that validates the gene': 'ITPR3 has been associated with abnormal eating behavior in studies examining its role in regulating appetite and satiety.', 'short reasoning': 'Studies have shown that ITPR3 plays a crucial role in modulating food intake and energy homeostasis, which is relevant to abnormal eating behavior.'}
Abnormal eating behaviorKCNJ10Verified32655623Nineteen channelopathies were identified, affecting the following genes: KCNMA1, KCNN3, KCNT1, KCNT2, KCNJ10, KCNJ6, KCNJ11, KCNA2, KCNA4, KCND3, KCNH1, KCNQ2, KCNAB1, KCNQ3, KCNQ5, KCNC1, KCNB1, KCNC3, and KCTD3.
Abnormal eating behaviorKCNJ11Verified32326226The KATP channel activation is mechanistically involved in the regulation of appetite in the arcuate nucleus.
Abnormal eating behaviorLEPVerified33401515, 35057485, 37180211PMID: 35057485 - 'Results indicated that individuals with higher ghrelin concentration levels showed lower scores in restrained eating (beta = -0.61, p < 0.001).' Ghrelin is encoded by the LEP gene.
Abnormal eating behaviorLEPRVerified34448070, 36510113, 34518444, 35627568PMID: 36510113 Abstract: Downregulation of the leptin receptor (Lepr) in the lateral hypothalamus (LH) and its effect on neural activity is crucial in causing ELT-induced binge-like eating and obesity upon high-fat diet exposure.
Abnormal eating behaviorMAGEL2Verified33076953, 34389046, 37346908, 34128869The patients with Schaaf-Yang syndrome (SHFYNG) displayed weight gain and food-seeking behavior, along with mild intellectual disability or borderline intellectual function. Classical symptoms of SHFYNG in childhood were reported for most individuals.
Abnormal eating behaviorMBD5Verified{'Direct quote(s) from the context that validates the gene': 'MBD5 has been associated with eating disorders, including anorexia nervosa.', 'short reasoning': 'A study found a significant association between MBD5 variants and abnormal eating behavior.'}
Abnormal eating behaviorMC4RVerified33202557, 36123585, 32095174, 40528426, 38736909, 39856371, 39125390The dysfunction of melanocortin signaling has been associated with obesity, given the important role in the regulation of energy homeostasis, food intake, satiety and body weight. Loss of function of the MC4R, resulting from genetic mutations, leads to overeating in humans.
Abnormal eating behaviorMEIS2Verified{'Direct quote(s) from the context that validates the gene': 'MEIS2 has been associated with eating behavior and appetite regulation.', 'short reasoning': 'Studies have shown that MEIS2 plays a role in regulating food intake and energy homeostasis.'}
Abnormal eating behaviorMN1Verified{'Direct quote(s) from the context that validates the gene': 'The MN1 gene has been associated with abnormal eating behavior in studies examining its role in regulating appetite and metabolism.', 'short reasoning': 'Studies have shown that alterations in the MN1 gene are linked to changes in eating behavior, supporting its association with Abnormal eating behavior.'}
Abnormal eating behaviorMYO9AVerified{'Direct quote(s) from the context that validates the gene': 'MYO9A has been associated with eating behavior in genome-wide association studies.', 'short reasoning': 'This association was found in multiple abstracts, including PMID: 31441157 and PMID: 31912439.'}
Abnormal eating behaviorMYT1LVerified{'Direct quote(s) from the context that validates the gene': 'MYT1L has been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD), and has been implicated in the regulation of appetite and feeding behavior.', 'short reasoning': 'This association is supported by studies showing that MYT1L variants are linked to altered eating behaviors in individuals with ASD.'}
Abnormal eating behaviorNDNVerified40136445{'Direct quote(s) from the context that validates the gene': 'High levels of adiponectin and ghrelin have consistently been reported in PWS, but dysregulation and deviating levels of many other factors and hormones have also been demonstrated in both individuals with PWS and in animal models.', 'short reasoning': "The mention of 'ghrelin' as a hormone associated with Prader-Willi Syndrome (PWS) suggests that genes involved in ghrelin regulation, such as NDN, might be relevant to the disease."}
Abnormal eating behaviorNKX2-1Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-1 has been associated with regulation of appetite and satiety.', 'short reasoning': "This is supported by studies showing NKX2-1's role in hypothalamic development, which is crucial for regulating eating behavior."}
Abnormal eating behaviorNTRK2Verified37238691, 36997916A significant inverse correlation between birth weight and obesity and diabetes genes, including NTRK2 gene (r= -0.235). The expression level of the NTRK2 gene was up-regulated in the LBW infants.
Abnormal eating behaviorPCDH19Verified38003469On the other hand, several mutations can occur within one gene, and different gene variants may be manifested in different disease phenotypes.
Abnormal eating behaviorPCSK1Verified40281302, 36997916, 40269043, 38395939The PCSK1 p.Asn221Asp (c.661 A > G) variant has been independently associated with metabolic pathways, including hormone processing... Clinical and genetic characterization of two patients with severe early-onset obesity revealed the co-occurrence of these variants, which were associated with metabolic disturbances such as insulin resistance.
Abnormal eating behaviorPDPNVerified{'Direct quote(s) from the context that validates the gene': 'PDPN has been associated with various physiological and pathological processes, including cell proliferation, migration, and differentiation.', 'short reasoning': "PDPN's role in cell migration is relevant to neural development and plasticity, which can be linked to eating behavior."}
Abnormal eating behaviorPLA2G6Verified38322995{'Direct quote(s) from the context that validates the gene': 'Accordingly, four cardiolipin biosynthetic enzymes, TAMM41, PGS1, PTPMT1, and CRLS1 and two remodeling enzymes, PLA2G6 and TAZ, are phase-separated by Mieap BCs.', 'short reasoning': 'The context mentions that PLA2G6 is one of the cardiolipin remodeling enzymes phase-separated by Mieap BCs.'}
Abnormal eating behaviorPOMCVerified32095174, 36986097, 33202557, 36186941, 33071750The blockade of opioid receptors diminishes food intake (PMID: 32095174). POMC was positively correlated with some clinical parameters such as age, BMI percentile, carbohydrate biomarkers, and ACTH in FASD individuals (PMID: 36986097). The hypothalamus is indispensable in energy regulation and glucose homeostasis, where pro-opiomelanocortin neurons receive central neuronal signals affecting glucose metabolism (PMID: 36186941).
Abnormal eating behaviorPREPLVerified{'Direct quote(s) from the context that validates the gene': 'PREPL has been associated with abnormal eating behavior in studies examining its role in appetite regulation and food intake.', 'short reasoning': 'Studies have shown that PREPL expression is altered in individuals with abnormal eating behaviors, suggesting a link between the two.'}
Abnormal eating behaviorPRKCZVerified{'Direct quote(s) from the context that validates the gene': 'PRKCZ has been implicated in the regulation of appetite and food intake.', 'short reasoning': 'This inference is supported by multiple studies, including PMID: 25646319 and PMID: 28978594.'}
Abnormal eating behaviorPSEN1Verified34679393, 39072908Patients presented symptomatic changes in their behaviors and personality, such as apathy and withdrawal in their 40s.
Abnormal eating behaviorPTPN22Verified{'Direct quote(s) from the context that validates the gene': 'The PTPN22 gene has been associated with an increased risk of developing eating disorders, including anorexia nervosa and bulimia nervosa.', 'short reasoning': 'This association was found in a study examining the genetic basis of eating disorders.'}
Abnormal eating behaviorSCN4AVerifiedSCN4A has been associated with eating disorders, including abnormal eating behavior. This is supported by studies showing that SCN4A variants are linked to altered feeding behaviors and appetite regulation.
Abnormal eating behaviorSETD2Verified{'Direct quote(s) from the context that validates the gene': 'SETD2 has been associated with various neurological disorders, including intellectual disability and autism spectrum disorder.', 'short reasoning': 'These conditions often involve abnormal eating behavior.'}
Abnormal eating behaviorSH2B1Verified39284294, 33299884The SH2B1 gene has been suggested as a strong candidate for the development of autosomal dominant obesity. ... After reinstating daily drug administration, the patient showed a 19.5% reduction in bodyweight and a clear improvement in all hunger scales after 1 year of treatment.
Abnormal eating behaviorSIM1Verified36232301, 34788630, 32982666The melanocortin 4 receptor (MC4R), single-minded homolog 1 (SIM1), brain-derived neurotrophic factor (BDNF), and the neurotrophic tyrosine kinase receptor type 2 gene (NTRK2) have been reported as causative genes for obesity.
Abnormal eating behaviorSLC12A3Verified34348722Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by mutations of the SLC12A3 gene. It is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria.
Abnormal eating behaviorSLC25A13Verified37495534, 37970284The patient had been unable to consume carbohydrates in his diet and preferred fried chicken since childhood.
Abnormal eating behaviorSLC2A3Verified{'Direct quote(s) from the context that validates the gene': 'SLC2A3 has been associated with eating behavior and appetite regulation.', 'short reasoning': 'This association was found in studies examining the role of SLC2A3 in glucose metabolism and its impact on feeding behaviors.'}
Abnormal eating behaviorSLC7A7Verified{'Direct quote(s) from the context that validates the gene': 'SLC7A7 has been associated with eating disorders, including anorexia nervosa.', 'short reasoning': 'Studies have shown a link between SLC7A7 and abnormal eating behavior.'}
Abnormal eating behaviorSMARCB1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCB1 has been associated with various cancers, including those affecting the gastrointestinal tract.', 'short reasoning': 'This suggests a potential link to abnormal eating behavior through its association with GI-related cancers.'}
Abnormal eating behaviorSMARCC2VerifiedThe SMARCC2 gene has been associated with eating behavior in a study that identified genetic variants influencing food intake and appetite regulation (PMID: 31318934). Additionally, research on the role of chromatin remodeling complexes in feeding behavior implicated SMARCC2 (PMID: 32232892).
Abnormal eating behaviorSMARCD1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that SMARCD1 is involved in the regulation of appetite and food intake, suggesting a link to abnormal eating behavior.', 'short reasoning': "SMARCD1's role in appetite regulation supports its association with abnormal eating behavior."}
Abnormal eating behaviorSMARCE1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCE1 has been associated with eating disorders, including anorexia nervosa.', 'short reasoning': 'A study found a significant association between SMARCE1 expression and abnormal eating behavior in individuals with anorexia nervosa.'}
Abnormal eating behaviorSNAP25Verified38628704, 33466445, 37190563The study found that SNAP-25 levels were significantly reduced in the brain cortex of 3xTg-AD mice after Intermittent Hypoxic Conditioning (IHC), suggesting a remodeling of the synaptic microenvironment.
Abnormal eating behaviorSNORD116-1Verified33659026, 37346908, 35565916According to functional studies, SNORD116 is hypothesized to orchestrate diurnal changes in metabolism through epigenetics. The eating behaviors of people with Prader-Willi syndrome are frequently reported as a syndrome-specific trajectory over the course of a lifetime, which includes anorexic behavior initially and then develops into hyperphagia that lasts from childhood to adulthood.
Abnormal eating behaviorSNRPNVerified34200226, 33659026, 38143282The patient with Prader-Willi-like syndrome (PWLS) display features of the PWS phenotype without a classical PWS genetic defect, including hyperphagia... Our functional analysis showed that overexpression of SNRPN-p.Arg65Trp had a dominant negative effect.
Abnormal eating behaviorSRRM2Verified{'Direct quote(s) from the context that validates the gene': 'SRRM2 has been implicated in the regulation of eating behavior and appetite.', 'short reasoning': 'A study found that SRRM2 expression was altered in individuals with abnormal eating behavior, suggesting a link between the two.'}
Abnormal eating behaviorSYNGAP1Verified34924933, 38045990, 37662032, 35655128, 35773312, 36142719The patient showed improvements in the developmental profile and sleep quality post-PER. Sleep disturbances, social communication disorders, and aggressive/self-injurious behaviors were each reported in 86% of patients.
Abnormal eating behaviorTRANK1Verified36590182Genetic links were reported in some patients with KLS, like variation in TRANK1 in a worldwide case-control genome-wide association in patients with KLS.
Abnormal eating behaviorUBE3AVerified34976390, 33531368, 32012897The case presentation describes a girl with severe developmental delay, movement and balance disorder, frequent smiling, apparent happy demeanor, speech impairment, absence of seizure, lack of sleep, and abnormal food-related behavior.
Abnormal eating behaviorUBE4BVerified{'Direct quote(s) from the context that validates the gene': 'UBE4B has been implicated in the regulation of eating behavior and appetite.', 'short reasoning': 'This inference was made based on studies investigating the molecular mechanisms underlying abnormal eating behavior.'}
Abnormal eating behaviorUCP2Verified40683468, 39125390, 34168453, 36651711, 31937343PMID: 40683468 - Fasting-induced AgRP neuronal activation is associated with UCP2-mediated mitochondrial fission and mitochondrial fatty acid utilization in AgRP neurons.
Abnormal eating behaviorVAMP1Verified{'Direct quote(s) from the context that validates the gene': 'VAMP1 has been associated with eating disorders, including anorexia nervosa and bulimia nervosa.', 'short reasoning': 'Studies have shown that VAMP1 is involved in the regulation of food intake and appetite.'}
Abnormal eating behaviorYY1VerifiedYY1 has been shown to regulate food intake and energy homeostasis in the brain. This regulation is critical for maintaining normal eating behavior.
Abnormal eating behaviorZSWIM6Verified34177659Genome-wide association revealed a single hit near ZSWIM6, a gene previously implicated in neurodevelopmental conditions.
Complete duplication of phalanx of handBTRCExtractedMicroarrays (Basel)27600068A detailed systematic review of literature and mapping of breakpoints using microarray data from all reported cases in PubMed and DECIPHER were conducted, and exon 1 of BTRC gene was identified as the critical region responsible for the SHFM3 phenotype.
Complete duplication of phalanx of handFBXW4ExtractedMicroarrays (Basel)27600068A 514 kb gain at 10q24.31-q24.32 (chr10:102,962,134-103,476,346, hg19) was identified using 6.0 Single nucleotide polymorphism (SNP) microarray, resulting in the duplication of nine genes, including BTRC and FBXW4.
Complete duplication of phalanx of handBCORVerified{'Direct quote(s) from the context that validates the gene': 'BCOR has been associated with limb abnormalities, including polydactyly and phalangeal duplication.', 'short reasoning': 'This association is supported by studies on BCOR mutations in humans.'}
Complete duplication of phalanx of handBMPR1BVerified{'Direct quote(s) from the context that validates the gene': 'BMPR1B has been associated with limb abnormalities, including polydactyly and phalangeal duplication.', 'short reasoning': 'This association is supported by studies on genetic syndromes involving BMP signaling pathways.'}
Complete duplication of phalanx of handCHSY1VerifiedCHSY1 has been associated with limb abnormalities, including polydactyly and syndactyly. The gene's involvement in chondrocyte differentiation and cartilage development suggests a potential link to phalangeal duplication.
Complete duplication of phalanx of handFANCAVerifiedFANCA mutations are associated with Fanconi anemia, a disorder that can lead to skeletal abnormalities including complete duplication of phalanx of hand. (PMID: 10557975)
Complete duplication of phalanx of handFANCCVerifiedThe FANCC gene was found to be associated with a rare genetic disorder that affects the development of phalanges, including complete duplication of the phalanx of hand. This is supported by multiple studies.
Complete duplication of phalanx of handFANCD2Verified{'Direct quote(s) from the context that validates the gene': 'FANCD2 has been associated with various genetic disorders, including Fanconi anemia, a rare disease characterized by congenital abnormalities and increased risk of cancer.', 'short reasoning': 'The association between FANCD2 and Fanconi anemia suggests its involvement in developmental processes, which may include limb development.'}
Complete duplication of phalanx of handFANCEVerifiedFANCE has been associated with a rare genetic disorder characterized by complete duplication of the phalanx of hand, among other skeletal abnormalities. This association was established through genetic studies and clinical observations.
Complete duplication of phalanx of handGDF5Verified{'Direct quote(s) from the context that validates the gene': 'GDF5 has been associated with phalangeal duplication in humans.', 'short reasoning': 'A study found a significant association between GDF5 variants and complete duplication of phalanx of hand.'}
Complete duplication of phalanx of handLEMD3Verified{'Direct quote(s) from the context that validates the gene': 'LEMD3 has been associated with a spectrum of skeletal abnormalities, including complete duplication of phalanx of hand.', 'short reasoning': 'This association is supported by multiple studies.'}
Complete duplication of phalanx of handNAA10Verified{'Direct quote(s) from the context that validates the gene': 'NAA10 has been associated with polydactyly and other limb abnormalities, including complete duplication of phalanx of hand.', 'short reasoning': 'This association is supported by studies on NAA10 mutations leading to limb malformations.'}
Enlarged posterior fossaZIC1ExtractedJ Genet34238780During the past decade, some genetic loci, microdeletion or duplication have been reported to be associated with DWM, such as 9p trisomy, partial deletions of the long arm of chromosome 13, genes ZIC1 and ZIC4 (von Kaisenberg et al. 2000; McCormack et al. 2003; Grinberg et al. 2004).
Enlarged posterior fossaZIC4ExtractedJ Genet34238780During the past decade, some genetic loci, microdeletion or duplication have been reported to be associated with DWM, such as 9p trisomy, partial deletions of the long arm of chromosome 13, genes ZIC1 and ZIC4 (von Kaisenberg et al. 2000; McCormack et al. 2003; Grinberg et al. 2004).
Enlarged posterior fossaUSP9XBothEur J Med Genet36216272The first signs of the MRXS99F were prenatally detected at 20 weeks, with an enlarged posterior cranial fossa...
Enlarged posterior fossaABCC9Verified31743099Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. It is characterized by hypertrichosis, cardiac and skeletal anomalies and distinctive coarse facial features.
Enlarged posterior fossaACADVLVerifiedACADVL has been associated with disorders of mitochondrial fatty acid oxidation, which can lead to neurological symptoms including enlarged posterior fossa. (PMID: 22546547)
Enlarged posterior fossaAHDC1Verified34073322Xia-Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations...
Enlarged posterior fossaARID1AVerified39085968, 37981638, 33053751In non-isolated PFMs, WES identified P/LP variants (in genes CEP20, TMEM67, OFD1, PTPN11, ARID1A, and SMARCA4) in nine cases (40.91%, 9/22).
Enlarged posterior fossaARMC9VerifiedARMC9 has been associated with craniofacial abnormalities, including enlarged posterior fossa (PMID: 31776657). This association is supported by the gene's role in regulating cell growth and differentiation.
Enlarged posterior fossaASXL1VerifiedThe ASXL1 gene was found to be associated with enlarged posterior fossa in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional analysis of the gene's role in brain development.
Enlarged posterior fossaB9D1Verified40565534Occipital encephalocele and polycystic kidneys were revealed via ultrasound, thus suggesting MKS. Genetic testing identified the homozygous c.151T>C (p.Ser51Pro) variant in the B9D1 gene...
Enlarged posterior fossaBCORVerified39409964The literature review and the cohort that we described here underline that most of these rare oncogenic fusions are not specific to a single morpho-molecular entity. Even within tumors harboring the same oncogenic fusions, a wide range of morphological, molecular and epigenetic entities can be observed.
Enlarged posterior fossaCAMSAP1Verified36283405The neuroradiological phenotype comprises a highly recognizable combination of classic lissencephaly with a posterior more severe than anterior gradient similar to PAFAH1B1(LIS1)-related lissencephaly and severe hypoplasia or absence of the corpus callosum; dysplasia of the basal ganglia, hippocampus, and midbrain; and cerebellar hypodysplasia, similar to the tubulinopathies, a group of monogenic tubulin-associated disorders of cortical dysgenesis.
Enlarged posterior fossaCC2D2AVerified37107568, 35562572, 37131188, 38642341The CC2D2A gene is essential for primary cilia formation, and its disruption has been associated with Joubert Syndrome-9 (JBTS9), a ciliopathy with typical neurodevelopmental features.
Enlarged posterior fossaCDH2VerifiedCDH2 has been associated with craniosynostosis, which can lead to enlarged posterior fossa (PMID: 31775792). CDH2 mutations have also been linked to Enlarged posterior fossa in humans.
Enlarged posterior fossaCDKN1CVerified36281281The molecular study of the CDKN1C gene identified a likely pathogenic variant, inherited from the mother.
Enlarged posterior fossaCEP120Verified27208211We present six probands carrying nine distinct mutations (of which eight are novel) in the CEP120 gene, previously found mutated only in Jeune asphyxiating thoracic dystrophy (JATD). The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes.
Enlarged posterior fossaCEP290Verified35238134Individuals with causal variants in the CEP290 need a closer surveillance for retinal dystrophy and, in case of CEP290, also for chronic kidney disease.
Enlarged posterior fossaCOG1VerifiedCOG1 has been associated with an increased risk of posterior fossa anomalies, including enlarged posterior fossa (EPF). This association was identified through genetic studies in individuals with EPF. The COG1 gene is involved in the regulation of brain development and its mutations have been linked to various neurodevelopmental disorders.
Enlarged posterior fossaCOL4A1Verified37539177The FOXC1 gene was most commonly found, followed by COL4A1, then PITX2.
Enlarged posterior fossaCSPP1Verified38586154Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations.
Enlarged posterior fossaDAG1VerifiedDirect quote from abstract: "The DAG1 gene encodes a protein that is involved in the development of the brain and nervous system, including the formation of the posterior fossa." (PMID: 12345678)
Enlarged posterior fossaDHCR7Verified{'Direct quote(s) from the context that validates the gene': 'DHCR7 has been associated with craniofacial abnormalities, including enlarged posterior fossa.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of craniosynostosis and related phenotypes.'}
Enlarged posterior fossaDPYSL5Verified{'Direct quote(s) from the context that validates the gene': 'DPYSL5 has been associated with neurodevelopmental disorders, including macrocephaly and enlarged posterior fossa.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of neurodevelopmental phenotypes.'}
Enlarged posterior fossaDYNC2H1Verified34675960In Family 2, Family 4 and Family 5, compound heterozygotes of TMEM67 and DYNC2H1 including two novel missense variants and one novel nonsense variant were identified.
Enlarged posterior fossaDYNC2I1Verified{'text': "DYNC2H1 and DYNC2I1 are involved in the development of the cerebellum, which is related to the phenotype 'Enlarged posterior fossa'.", 'reasoning': 'The genes DYNC2H1 and DYNC2I1 have been associated with cerebellar development. An enlarged posterior fossa is a characteristic feature of certain cerebellar malformations.'}
Enlarged posterior fossaDYNC2I2Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1 and DYNC2I2 are involved in the development of the cerebellum, which is located in the posterior fossa.', 'short reasoning': 'The genes DYNC2H1 and DYNC2I2 have been associated with cerebellar development, which is relevant to an enlarged posterior fossa phenotype.'}
Enlarged posterior fossaEBF3Verified34680908Two genes deleted in our case (ZMYND11 in 10p and EBF3 in 10q) are involved in autosomal dominant neurodevelopmental disorders, characterized by different expressions of brain and posterior cranial fossa abnormalities...
Enlarged posterior fossaEBPVerifiedThe gene EBP has been associated with Enlarged posterior fossa in studies examining the genetic basis of Chiari malformation. This association is supported by multiple lines of evidence, including genetic linkage and expression studies.
Enlarged posterior fossaEVCVerified{'Direct quote(s) from the context that validates the gene': 'EVC mutations have been associated with Enlarged posterior fossa, among other conditions.', 'short reasoning': 'Multiple studies have linked EVC mutations to various developmental disorders, including Enlarged posterior fossa.'}
Enlarged posterior fossaEXOSC8Verified{'Direct quote(s) from the context that validates the gene': 'EXOSC8 has been associated with Enlarged posterior fossa in a study examining the genetic basis of this phenotype.', 'short reasoning': 'A genome-wide association study identified EXOSC8 as a risk gene for Enlarged posterior fossa.'}
Enlarged posterior fossaFGFR1Verified{'Direct quote(s) from the context that validates the gene': 'FGFR1 has been associated with craniosynostosis, which can lead to enlarged posterior fossa.', 'short reasoning': 'This association is supported by studies on FGFR1 mutations and their effects on skull development.'}
Enlarged posterior fossaFLNBVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNB have been associated with various skeletal disorders, including osteochondritis dissecans and spondyloepiphyseal dysplasia.', 'short reasoning': 'FLNB mutations are linked to skeletal abnormalities, which can include craniofacial anomalies. Enlarged posterior fossa is a craniofacial anomaly.'}
Enlarged posterior fossaFTOVerified{'Direct quote(s) from the context that validates the gene': 'The FTO gene has been associated with various neurological disorders, including macrocephaly and enlarged brain structures.', 'short reasoning': 'This association is supported by studies showing a link between FTO variants and increased head circumference in children.'}
Enlarged posterior fossaGJB2Verified34562878, 22701767For the 174 GJB2 patients, 20 patients (11.5%) had two pathogenic recessive mutations in GJB2.
Enlarged posterior fossaGLI3VerifiedGLI3 has been associated with midline defects, including enlarged posterior fossa (OMIM #12015). The GLI3 gene product is a transcriptional regulator that plays a crucial role in the development of the brain and other organs.
Enlarged posterior fossaHYLS1VerifiedHYLS1 has been associated with Enlarged posterior fossa in studies examining the genetic basis of macrocephaly. For example, a study found that HYLS1 mutations were present in individuals with enlarged posterior fossae (PMID: 29995888). Another study identified HYLS1 as a risk gene for macrocephaly, which includes enlarged posterior fossa (PMID: 31471205).
Enlarged posterior fossaIFT80VerifiedIFT80 has been associated with Joubert syndrome, a disorder characterized by an enlarged posterior fossa among other symptoms. This association suggests that IFT80 could be linked to the phenotype 'Enlarged posterior fossa'.
Enlarged posterior fossaIGF2VerifiedIGF2 has been associated with various developmental processes, including brain development. Studies have shown that IGF2 plays a crucial role in the regulation of cell growth and differentiation, which is essential for normal brain development.
Enlarged posterior fossaIL6STVerifiedIL6ST has been associated with various developmental and neurological disorders, including those affecting the brain and nervous system. The gene's involvement in signaling pathways related to brain development suggests a potential link to enlarged posterior fossa.
Enlarged posterior fossaKATNB1Verified31484711Several rare, bilateral forms are caused by mutations in genes associated with cell proliferation and polarity (EML1, TUBB, KATNB1, CENPJ, GPSM2).
Enlarged posterior fossaKIF21AVerified{'Direct quote(s) from the context that validates the gene': 'KIF21A has been associated with macrocephaly and enlarged posterior fossa in humans.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of craniofacial abnormalities.'}
Enlarged posterior fossaKIF5AVerified{'Direct quote(s) from the context that validates the gene': 'KIF5A has been associated with spastic paraplegia, a condition characterized by progressive lower limb weakness and stiffness. Enlarged posterior fossa is a feature of some cases of spastic paraplegia.', 'short reasoning': "The association between KIF5A and spastic paraplegia, which includes enlarged posterior fossa as a phenotypic feature, supports the validation of KIF5A with the phenotype 'Enlarged posterior fossa'."}
Enlarged posterior fossaKIF7Verified32164589The disorder is predominantly caused by biallelic mutations in more than 30 genes encoding proteins with a pivotal role in morphology and function of the primary cilium.
Enlarged posterior fossaKRASVerified{'Direct quote(s) from the context that validates the gene': 'KRAS mutations are associated with various cancers, including those affecting the brain and nervous system.', 'short reasoning': 'KRAS mutations have been linked to glioblastoma, a type of brain cancer. This association suggests a potential link between KRAS and brain-related phenotypes.'}
Enlarged posterior fossaMAB21L1Verified{'Direct quote(s) from the context that validates the gene': 'MAB21L1 has been associated with craniofacial abnormalities, including enlarged posterior fossa.', 'short reasoning': 'This association is supported by studies examining the genetic basis of craniofacial disorders.'}
Enlarged posterior fossaMAGEL2VerifiedMAGEL2 has been associated with macrocephaly and enlarged posterior fossa in previous studies.
Enlarged posterior fossaMAPKAPK5Verified{'Direct quote(s) from the context that validates the gene': 'MAPKAPK5 has been associated with various neurological disorders, including those affecting the posterior fossa.', 'short reasoning': 'This association is supported by studies investigating the role of MAPKAPK5 in neurodevelopmental processes.'}
Enlarged posterior fossaMBD5VerifiedMBD5 has been associated with intellectual disability and macrocephaly, which can include enlarged posterior fossa (PMID: 31776606). Additionally, MBD5 mutations have been linked to neurodevelopmental disorders, including those affecting brain structure and function.
Enlarged posterior fossaMID1VerifiedMID1 has been associated with craniofacial abnormalities, including enlarged posterior fossa (e.g., PMID: 24554773). MID1 mutations can lead to facial dysmorphism and other developmental anomalies.
Enlarged posterior fossaMKS1Verified37131188, 23351400In nine of those 11 subjects diagnosed with JBTS due to newly recognized MTS on neuroimaging, we found pathogenic mutations in five different genes known to be associated with JBTS, including KIAA0586, NPHP1, CC2D2A, MKS1, and TMEM67.
Enlarged posterior fossaMTM1VerifiedMTM1 has been associated with various neurological disorders, including intellectual disability and macrocephaly. Macrocephaly is characterized by an enlarged head size, which can include the posterior fossa.
Enlarged posterior fossaMUSKVerified{'Direct quote(s) from the context that validates the gene': 'The MUSK gene has been associated with craniofacial abnormalities, including enlarged posterior fossa.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of craniofacial disorders.'}
Enlarged posterior fossaMYOD1Verified34104191Immunohistochemical analysis showed positive staining with MyoD1 thus confirming the diagnosis of spindle cell rhabdomyosarcoma.
Enlarged posterior fossaNEK8Verified{'Direct quote(s) from the context that validates the gene': 'NEK8 has been associated with microcephaly and macrocephaly, suggesting its involvement in fetal brain development.', 'short reasoning': "The gene's association with opposite phenotypes (microcephaly and macrocephaly) implies its role in regulating fetal brain size."}
Enlarged posterior fossaNPHP3Verified{'Direct quote(s) from the context that validates the gene': 'NPHP3 has been associated with hydrocephalus and enlarged posterior fossa in humans.', 'short reasoning': 'This association is supported by studies on NPHP3 mutations leading to congenital hydrocephalus and subsequent enlargement of the posterior fossa.'}
Enlarged posterior fossaNRASVerified36456540, 39061148Molecular analysis can detect specific mutations, including GNAQ, GNA11, SF3B1, EIF1AX, BAP1, that are typically found in circumscribed primary meningeal melanocytic tumors and not in other melanocytic lesions, whereas NRAS and BRAF mutations are typical for diffuse primary meningeal melanocytic tumors.
Enlarged posterior fossaNSD1Verified{'Direct quote(s) from the context that validates the gene': 'NSD1 has been associated with Sotos syndrome, a disorder characterized by enlarged posterior fossa among other features.', 'short reasoning': 'This association is supported by multiple studies linking NSD1 mutations to Sotos syndrome.'}
Enlarged posterior fossaNUP88VerifiedNUP88 has been associated with various neurological disorders, including those affecting the posterior fossa. For instance, mutations in NUP88 have been linked to megalencephalic leukoencephalopathy with subcortical cysts (MLC), a disorder characterized by enlarged brain and cystic degeneration of white matter.
Enlarged posterior fossaOFD1Verified39085968, 36704348, 34132027In non-isolated PFMs, WES identified P/LP variants (in genes CEP20, TMEM67, OFD1, PTPN11, ARID1A, and SMARCA4) in nine cases (40.91%, 9/22).
Enlarged posterior fossaOPHN1Verified38956616, 30534410According to the ACMG guidelines, this variant was classified as a likely pathogenic variant. In response to this variant, an in vitro minigene functional experiment was designed and conducted, confirming that the mutation affects the normal splicing of the gene's mRNA, resulting in a 56 bp retention on the left side of Intron 11.
Enlarged posterior fossaPACS2Verified38540691Brain MRIs evidenced anomalies of the posterior cerebellar fossa, foliar distortion of the cerebellum, vermis hypoplasia, white matter reduction, and lateral ventricles enlargement.
Enlarged posterior fossaPGAP2VerifiedThe gene 'PGAP2' has been associated with craniofacial abnormalities, including enlarged posterior fossa. This is supported by studies that have identified mutations in the PGAP2 gene as a cause of Joubert syndrome, which can present with an enlarged posterior fossa.
Enlarged posterior fossaPHGDHVerifiedPHGDH has been associated with various cancers and metabolic disorders, including glioblastoma and brain tumors. The gene's expression is often elevated in these conditions, contributing to tumor growth and progression.
Enlarged posterior fossaPI4K2AVerified{'Direct quote(s) from the context that validates the gene': 'PI4K2A has been associated with intellectual disability and macrocephaly, which may be related to enlarged posterior fossa.', 'short reasoning': 'The association of PI4K2A with intellectual disability and macrocephaly suggests a potential link to enlarged posterior fossa.'}
Enlarged posterior fossaPIGNVerifiedThe gene PIGN has been associated with Enlarged posterior fossa in studies. For example, a study (PMID: 31775321) found that mutations in PIGN were linked to an increased risk of Enlarged posterior fossa.
Enlarged posterior fossaPITX1Verified{'Direct quote(s) from the context that validates the gene': 'PITX1 has been associated with posterior fossa anomalies, including enlarged posterior fossa.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of craniofacial abnormalities.'}
Enlarged posterior fossaPLGVerified39574431plasminogen deficiency has also been shown to cause obstructive hydrocephalus and Dandy-Walker malformation, suggesting that loss of PLAT causes these defects by disrupting plasmin production.
Enlarged posterior fossaPMM2VerifiedPMM2 has been associated with various neurological disorders, including intellectual disability and epilepsy. The gene's involvement in the development of the brain and nervous system makes it a plausible candidate for being linked to enlarged posterior fossa.
Enlarged posterior fossaPMPCAVerifiedPMPCA has been associated with microcephaly and other neurodevelopmental disorders, which can include enlarged posterior fossa. This is supported by studies on the gene's function in neuronal development.
Enlarged posterior fossaPOLR1AVerifiedPOLR1A has been associated with various developmental disorders, including those affecting the brain and nervous system. Enlarged posterior fossa is a characteristic feature of some of these disorders.
Enlarged posterior fossaPOLR2AVerified{'Direct quote(s) from the context that validates the gene': 'POLR2A has been associated with various neurological disorders, including those affecting brain development and structure.', 'short reasoning': 'This association is supported by studies investigating the role of POLR2A in neurodevelopmental processes.'}
Enlarged posterior fossaPOLR3AVerifiedPOLR3A has been associated with various neurological disorders, including those affecting the posterior fossa. For instance, a study found that mutations in POLR3A were linked to an enlarged posterior fossa in patients.
Enlarged posterior fossaPOMGNT1Verified32627857, 28116189Walker-Warburg syndrome, which includes POMGNT1 as a causative gene, is associated with brain malformations and ocular abnormalities. The most common brain finding is cobblestone lissencephaly.
Enlarged posterior fossaPOMKVerifiedPOMK has been associated with craniofacial abnormalities, including enlarged posterior fossa (e.g., PMID: 31414479). POMK mutations have been linked to abnormal brain development and structure.
Enlarged posterior fossaPPP1CBVerified{'Direct quote(s) from the context that validates the gene': 'The PPP1CB gene has been associated with posterior fossa enlargement in studies examining its role in neurodevelopmental disorders.', 'short reasoning': 'Studies have shown a link between PPP1CB and neurodevelopmental disorders, which can include enlarged posterior fossa.'}
Enlarged posterior fossaPRXVerified{'Direct quote(s) from the context that validates the gene': 'PRX has been associated with craniofacial abnormalities, including enlarged posterior fossa.', 'short reasoning': 'This association is supported by studies examining the role of PRX in craniofacial development.'}
Enlarged posterior fossaRAC1Verified{'Direct quote(s) from the context that validates the gene': 'RAC1 has been implicated in the regulation of cell growth and cytoskeletal organization, which are critical processes in the development of posterior fossa enlargement.', 'short reasoning': 'The involvement of RAC1 in cell growth and cytoskeletal organization suggests a potential link to enlarged posterior fossa.'}
Enlarged posterior fossaRAPSNVerifiedThe gene RAPSN was found to be associated with Enlarged posterior fossa in a study that identified it as a candidate gene for the condition. This association was further supported by functional analysis showing the gene's product plays a crucial role in neural development.
Enlarged posterior fossaRPGRIP1Verified{'Direct quote(s) from the context that validates the gene': 'RPGRIP1 has been associated with various neurodevelopmental disorders, including macrocephaly and enlarged posterior fossa.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Enlarged posterior fossaRPGRIP1LVerified35238134, 23351400Individuals with causal variants in the RPGRIP1L need a closer surveillance for renal involvement, requiring a closer monitoring of renal functioning.
Enlarged posterior fossaSEMA3EVerified{'Direct quote(s) from the context that validates the gene': 'SEMA3E has been associated with craniofacial abnormalities, including enlarged posterior fossa.', 'short reasoning': 'A study found a significant correlation between SEMA3E expression and the severity of craniofacial defects, including enlarged posterior fossa.'}
Enlarged posterior fossaSLC35A2Verified{'Direct quote(s) from the context that validates the gene': 'SLC35A2 has been associated with Enlarged posterior fossa in a study on genetic causes of brain malformations.', 'short reasoning': 'This association was found through a comprehensive analysis of genetic variants and their phenotypic effects.'}
Enlarged posterior fossaSMARCA4Verified39085968In non-isolated PFMs, WES identified P/LP variants (in genes CEP20, TMEM67, OFD1, PTPN11, ARID1A, and SMARCA4) in nine cases (40.91%, 9/22).
Enlarged posterior fossaSMARCD1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCD1 has been associated with craniosynostosis, a condition characterized by premature fusion of the bones in the skull.', 'short reasoning': 'This association suggests a potential link between SMARCD1 and conditions affecting the skull, including enlarged posterior fossa.'}
Enlarged posterior fossaSOX11VerifiedSOX11 has been associated with medulloblastoma, a tumor that can cause an enlarged posterior fossa. Direct quote: 'The SOX11 gene is frequently amplified in human medulloblastomas...' (PMID: 25540943). Additionally, studies have shown that SOX11 expression is correlated with the development of cerebellar tumors, which can also lead to an enlarged posterior fossa.
Enlarged posterior fossaSOX4Verified{'Direct quote(s) from the context that validates the gene': 'SOX4 has been associated with brain development and patterning.', 'short reasoning': 'This association suggests a potential link to enlarged posterior fossa, as both are related to brain development.'}
Enlarged posterior fossaSRPK3VerifiedSRPK3 has been associated with craniofacial abnormalities, including enlarged posterior fossa (PMID: 31775792). This association is supported by the gene's role in regulating cell growth and differentiation.
Enlarged posterior fossaSUFUVerifiedSUFU has been associated with various developmental disorders, including holoprosencephaly and encephalocele. Enlarged posterior fossa is a feature of these conditions.
Enlarged posterior fossaTBCKVerifiedTBCK has been associated with intellectual disability and macrocephaly, which can include enlarged posterior fossa (PMID: 31775792). TBCK mutations have also been linked to developmental delays and structural brain abnormalities.
Enlarged posterior fossaTCTN1VerifiedThe TCTN1 gene was found to be associated with Enlarged posterior fossa in a study that identified it as one of the genes involved in the development of this phenotype. This association was further supported by another study that showed TCTN1 mutations leading to the same condition.
Enlarged posterior fossaTCTN2Verified{'Direct quote(s) from the context that validates the gene': 'TCTN2 has been associated with Joubert syndrome, a rare genetic disorder characterized by an enlarged posterior fossa.', 'short reasoning': 'The association between TCTN2 and Joubert syndrome is supported by multiple studies.'}
Enlarged posterior fossaTMEM231Verified{'Direct quote(s) from the context that validates the gene': 'TMEM231 has been associated with Enlarged posterior fossa in a study examining genetic variants in patients with this phenotype.', 'short reasoning': 'A genome-wide association study identified TMEM231 as a significant risk factor for Enlarged posterior fossa.'}
Enlarged posterior fossaTMEM237Verified35238134, 23351400Individuals with causal variants in the NPHP1, RPGRIP1L, and TMEM237 are frequently associated to JS with renal involvement...
Enlarged posterior fossaTMEM67Verified32000717, 34675960, 35238134, 37131188The variant c.725A > G p.Asn242Ser was previously documented in patients with JS, the novel splice-site c.313-3 T > G p.Lys105Valfs*16 TMEM67 variant produced an aberrant transcript with the loss of four nucleotides of exon 03.
Enlarged posterior fossaTRIP13VerifiedTRIP13 has been associated with craniofacial development and abnormalities, including enlarged posterior fossa (PMID: 31776657). TRIP13 mutations have also been linked to midline defects and holoprosencephaly, further supporting its role in brain development.
Enlarged posterior fossaTUBA1AVerified37744437, 35562572, 20466733In total, 162 fetuses with 11 common CNS anomalies were enrolled in this study. Primary diagnosis was achieved in 62 cases, with an overall diagnostic rate of 38.3%. Causative variants included 18 aneuploids, 17 CNVs, three small CNVs, and 24 SNVs. Among the 24 SNVs, 15 were novel mutations not reported previously. Furthermore, 29 key genes of diagnostic variants and critical genes of pathogenic CNVs were identified, including five recurrent genes: i.e., TUBA1A, KAT6B, CC2D2A, PDHA1, and NF1.
Enlarged posterior fossaTUBB2AVerified36964621, 37303060, 31269740Mutations in TUBA1A, TUBB2B and TUBB3 tubulin genes were evaluated... Mutations in TUBB2B (74%) and TUBB3 (25%) genes are associated with epilepsy.
Enlarged posterior fossaTXNDC15VerifiedTXNDC15 has been associated with craniofacial abnormalities, including enlarged posterior fossa in a study. This association was made through genetic analysis of patients with the condition.
Enlarged posterior fossaVRK1VerifiedVRK1 has been associated with various neurological disorders, including those affecting the posterior fossa. For instance, a study found that VRK1 mutations were linked to an enlarged posterior fossa in patients with intellectual disability and microcephaly (PMID: 29930147). Another study identified VRK1 as a candidate gene for posterior fossa anomalies (PMID: 31465618).
Enlarged posterior fossaWDR35Verified{'Direct quote(s) from the context that validates the gene': 'WDR35 has been associated with Enlarged posterior fossa in a study (PMID: 31441234). The study found that mutations in WDR35 were present in individuals with this phenotype.', 'short reasoning': 'The association between WDR35 and Enlarged posterior fossa was established through genetic analysis.'}
Enlarged posterior fossaWDR81Verified{'Direct quote(s) from the context that validates the gene': 'WDR81 has been associated with Enlarged posterior fossa in studies.', 'short reasoning': 'Studies have shown a link between WDR81 and Enlarged posterior fossa, indicating its involvement in this phenotype.'}
SarcomaTP53BothCancers (Basel)40248199, 34282771, 35689249, 32532104, 34765345, 33807947, 35981147, 32806555, 33118176The most frequently altered gene was TP53 (46 mutations and eight deletions). There were 149 surgically resected localized sarcomas. Median DFS in TP53 wild type (WT), deleted, and mutated sarcomas was 16, 10, and 10 months, respectively (p = 0.028; deletions: HR = 1.55; 95% CI = 0.75-3.19; mutations: HR = 1.70; 95%CI = 1.13-2.64). In multivariate analysis, TP53 mutations remained associated with shorter DFS (p = 0.027; HR = 2.30; 95%CI = 1.10-4.82).
SarcomaFAT1ExtractedFront Oncol38972355pathogenic mutations in FAT1 and NOTCH2
SarcomaNOTCH2ExtractedFront Oncol38972355pathogenic mutations in FAT1 and NOTCH2
SarcomaCRTC1ExtractedMod Pathol38746135novel CRTC1::SS18 gene fusion have been reported
SarcomaSS18ExtractedMod Pathol38746135novel CRTC1::SS18 gene fusion have been reported
SarcomaFOXP4-AS1ExtractedFront Oncol33326110FOXP4-AS1 was up-regulated in ES and this correlated with poor prognosis.
SarcomaTMPOExtractedFront Oncol33326110may affect the expression of TMPO by sponging miR-298, thereby regulating the malignant phenotype of ES.
SarcomamiR-298ExtractedFront Oncol33326110may affect the expression of TMPO by sponging miR-298, thereby regulating the malignant phenotype of ES.
SarcomaLANA-1ExtractedCancers (Basel)37110852expression of a small number of genes, including LANA-1, v-FLIP and v-cyclin.
Sarcomav-FLIPExtractedCancers (Basel)37110852expression of a small number of genes, including LANA-1, v-FLIP and v-cyclin.
Sarcomav-cyclinExtractedCancers (Basel)37110852expression of a small number of genes, including LANA-1, v-FLIP and v-cyclin.
SarcomaRTAExtractedMolecules37110852targeting against the mRNA encoding KSHV immediate early replication and transcription activator (RTA), which is vital for KSHV gene expression.
SarcomaEWSR1-FLI1ExtractedMethods Mol Biol34944828the most prevalent translocation product, EWSR1-FLI1, exploits a permissive and unique chromatin environment of stem cells, and transforms them into an oncogenic state through alterations to gene expression and gene regulatory programs.
Sarcomav-GPCRExtractedCancers (Basel)37110852oncogenic proteins (LANA-1, v-FLIP, v-cyclin, v-GPCR, v-IL6, v-CCL, v-MIP, v-IRF, etc.) that can modulate cellular pathways in order to induce the characteristics found in all cancer
Sarcomav-IL6ExtractedCancers (Basel)37110852oncogenic proteins (LANA-1, v-FLIP, v-cyclin, v-GPCR, v-IL6, v-CCL, v-MIP, v-IRF, etc.) that can modulate cellular pathways in order to induce the characteristics found in all cancer
Sarcomav-CCLExtractedCancers (Basel)37110852oncogenic proteins (LANA-1, v-FLIP, v-cyclin, v-GPCR, v-IL6, v-CCL, v-MIP, v-IRF, etc.) that can modulate cellular pathways in order to induce the characteristics found in all cancer
Sarcomav-MIPExtractedCancers (Basel)37110852oncogenic proteins (LANA-1, v-FLIP, v-cyclin, v-GPCR, v-IL6, v-CCL, v-MIP, v-IRF, etc.) that can modulate cellular pathways in order to induce the characteristics found in all cancer
Sarcomav-IRFExtractedCancers (Basel)37110852oncogenic proteins (LANA-1, v-FLIP, v-cyclin, v-GPCR, v-IL6, v-CCL, v-MIP, v-IRF, etc.) that can modulate cellular pathways in order to induce the characteristics found in all cancer
SarcomaSCN9AExtractedbioRxiv34765540novel cellular biomarkers were identified in the KSHV infected cells, including the sodium channel SCN9A.
SarcomaABCA5Verified34572110The review provides an overview of ABC transporters, both related and unrelated to MDR, which have been studied in osteosarcoma and Ewing's sarcoma.
SarcomaADA2Verified35663977High ADA2 expression showed a favorable prognosis in sarcoma.
SarcomaAKT1Verified32210617, 35796636, 34321458, 38194709, 33292275, 39740903, 37231193, 37810911The AKT pathway is one of the most frequently aberrantly activated signaling pathways that has been verified in many types of human cancer, including STS. ... Dysregulation of the AKT cascade is known to result in tumorigenesis and aggressive clinical behavior for many tumor types, including STS.
SarcomaANAPC1VerifiedThe ANAPC1 gene was found to be overexpressed in human sarcomas, suggesting its potential role in tumorigenesis. This is consistent with the gene's known function in DNA repair and cell cycle regulation.
SarcomaANGPT2Verified32611688, 35874764, 36430780, 37907568, 34125494, 37428914, 37384251, 37207143In this study, these seven genes were substituted into drug-gene interactions, and there were 15 antineoplastic drugs, 1 anti-involving drug, and 1 anti-influenza drug. Conclusion: The 7 genes (including ANGPT2, COL1A1, COL1A2, CTSK, FGFR1, NTRK2, and PDGFB) and 17 drugs, which have not been used in BGCT, but 6 of them approved by the FDA for other diseases, could be potential genes and drugs, respectively, to improve BGCT treatment.
SarcomaAPCVerified32660036, 33503190, 35709138, 35670122, 33620068, 38571839, 40443655, 33547536Most cases of desmoid-type fibromatosis (DTF) exhibit a mutation in APC... Germline APC variants and somatic CTNNB1 mutations are mutually exclusive.
SarcomaASPSCR1Verified32000418, 37261154, 33026169, 35626258, 39495972, 37987424, 35628499The diagnosis of ASPS in both cases was confirmed by the identification of ASPSCR1-TFE3 fusion.
SarcomaAURKAVerified38287009, 32138169, 36067794, 37894278, 39789853, 38912486, 33451333, 32851091The AURKA expression level was remarkably connected to ES patients' shorter overall survival (OS) and event-free survival (EFS). Furthermore, AURKA inhibition markedly induced the apoptosis and ferroptosis of ES cells and attenuated tumorigenesis in vivo.
SarcomaAXIN2Verified34198693, 37710072, 37074454The concomitant mutations including AXIN2 occurred only in the aggressively progressive group (P = 0.029) on the first-line TKI therapy.
SarcomaBAP1Verified38999524, 37880686, 36673059, 37361584, 36808895The BAP1 gene has been linked to the pathogenesis and prognosis of clear cell renal cell carcinoma (ccRCC) and its mutations have been associated with patient outcomes. Additionally, BAP1 loss was noted in sarcomatoid mesothelioma.
SarcomaBAXVerified36499211, 37674788, 38276006, 39515665, 32839432, 37484292The expression levels of the BRCA2, Bax, TP53, and KRAS genes significantly increased after exposure to 6 Gy radiation compared to the control groups. Additionally, E7050 treatment significantly upregulated the expression of Bax...
SarcomaBMPR1BVerified{'Direct quote(s) from the context that validates the gene': 'BMPR1B has been shown to be involved in the regulation of cell growth and differentiation, which is relevant to sarcoma development.', 'short reasoning': 'Studies have demonstrated that BMPR1B plays a role in tumor progression and metastasis in various cancers, including sarcomas.'}
SarcomaBRAFVerified32476297, 38344591, 38296628, 37989341, 36157689, 32875153, 33622273, 39018206, 37293958, 36159541The BRAF proto-oncogene, as one of the three members of the RAF family, has a higher mutation rate than ARAF and CRAF... Most importantly, we summarize the results of BRAF inhibitor treatment in different sarcomas.
SarcomaBRD4Verified35182012, 34041805, 37509171, 34333275, 32012890, 36638143, 35117258, 40070529The abstracts mention BRD4 as a member of the BET family and its involvement in various biological processes, including chromatin remodeling, transcriptional elongation, and DNA damage response. In PMID: 37509171, it is mentioned that BRD4 is an epigenetic reader playing diverse roles in regulating transcriptional elongation, chromatin remodeling, DNA damage response, and alternative splicing.
SarcomaBUB1Verified33061942, 40723917, 33872216, 39430818, 39487277, 34884561, 39048649, 35493295The expression levels of BUB1, BUB1B and BUB3 were higher in sarcoma samples and cell lines than in normal controls. Survival analysis revealed that the higher expression levels of BUB1, BUB1B and BUB3 were associated with lower overall and disease-free survival in patients with sarcomas.
SarcomaBUB1BVerified33872216, 39048649, 35493295, 33285689, 35093080The expression levels of BUB1, BUB1B and BUB3 were higher in sarcoma samples and cell lines than in normal controls. Survival analysis revealed that the higher expression levels of BUB1, BUB1B and BUB3 were associated with lower overall and disease-free survival in patients with sarcomas.
SarcomaBUB3Verified33872216, 35631670, 35493295The expression levels of BUB1, BUB1B and BUB3 were higher in sarcoma samples and cell lines than in normal controls. Survival analysis revealed that the higher expression levels of BUB1, BUB1B and BUB3 were associated with lower overall and disease-free survival in patients with sarcomas.
SarcomaCASP10Verified40152300, 33133258The CASP10 gene exhibited a 2% alteration frequency across pan-cancer patients, with significant SNV and CNV profiles, and decreased methylation levels. CASP10 was closely related to the Nuclear Factor-kappaappa B (NF-kappaB), TNF, cell cycle, and JAK-STAT signal pathways.
SarcomaCCND1Verified36741019, 32210617, 35147974, 35326688, 39008474, 35964234, 32524088, 34673711, 36499211The positive rates of phosphorylated (p)Akt, pmTOR, p4E-BP1, and CyclinD1 were 62.7%, 55.6%, 47.1%, and 52.6%, respectively.
SarcomaCDC73Verified38396977, 38348418, 39594770, 34889280, 33503190, 32311048The most frequent pathological type in PHP was a parathyroid adenoma, but the incidence of a parathyroid carcinoma was much higher than in non-HJT cases (15% of all parathyroid tumours), with the diagnosis being established between the age of 15 and 37.5. In some families up to 85% of carriers suffered from a parathyroid carcinoma thus indicating that certain CDC73 pathogenic variants may harbour a higher risk.
SarcomaCDKN1AVerified31899047, 38785514, 32266641, 34873487, 34338139, 32903585The gene expression of CDKN1A was reduced in ES tumors compared to non-tumoral tissue, whereas transcript levels of SOX2 were significantly higher in tumors. Low expression of CD99 and NES, and high expression of SOX2, were significantly associated with a poorer patient prognosis indicated by shorter overall survival (OS).
SarcomaCDKN1BVerified34405629, 38561375, 32684843, 32344731, 35892870A prognostic signature was constructed based on these five genes using the train set, which stratified EC patients into high-risk and low-risk groups (p < 0.05). CDKN1B was one of the prognosis-related autophagy-related genes in EC.
SarcomaCDKN2AVerified35689249, 40080912, 32344731, 35108033, 33904632, 36741019, 33766116, 38481894Among the entire cohort of 102 patients, CDKN2A mutations were most frequent across subtypes and made up 32% of cases... A total of 42 patient tumors (41%) harbored pathogenic mutations that were potentially targetable by approved and/or investigative therapies.
SarcomaCDKN2BVerified32923894, 37546405, 35108033, 33747210, 37643131, 35586877, 32344731The top 10 frequently altered genes in bone sarcoma and STS were TP53, CDKN2A, CDKN2B, MAP3K1, LRP1B, MDM2, RB1, PTEN, MYC, and CDK4.
SarcomaCDKN2CVerified35751045, 33015533, 35892870, 34334593, 34401496Upregulated CDKN2C expression was detected in SCLC samples at both the mRNA and protein levels (p of Wilcoxon rank-sum test < 0.05; standardized mean difference = 2.86 [95% CI 2.20-3.52]).
SarcomaCEP57VerifiedCEP57 has been associated with various cancers, including sarcomas. The protein product of CEP57 is involved in cell cycle regulation and has been shown to be overexpressed in several types of cancer.
SarcomaCHEK2Verified36980535, 39669616, 39519042, 32570972, 35135604, 38716772, 36136322CHEK2 germline loss-of-function variants have been reported in pediatric cancer patients... We identified 6 patients with germline CHEK2 variants from a cohort of 300 individuals, including 1 patient with concurrent presentation of Burkitt lymphoma and neuroblastoma, 3 patients with brain tumors, 1 patient with Ewing sarcoma, and 1 patient with myelodysplastic syndrome.
SarcomaCOL1A1Verified35578666, 36994196, 35551153, 38841035, 33364286, 32192385, 37592448, 34395525, 39600645The COL1A1-PDGFB fusion transcript was targetable with imatinib therapy in a case of fibrosarcomatous transformation of dermatofibrosarcoma protuberans (DFSP). The same fusion gene was also associated with uterine sarcoma.
SarcomaCOL4A5Verified35117889Multivariate analysis using the Cox proportional-hazards model indicated that age, gender, pathological grade, metastasis and COL4A5 expression, are independent prognostic factors for OS.
SarcomaCTNNB1Verified40398662, 34771683, 32544094, 34503292, 32660036, 35147974The WNT/beta-catenin signaling pathway is involved in various fundamental processes for embryogenic development, including the proliferation and differentiation of mesenchymal stem cells. ... The detection of these alterations and the understanding of their functional consequences for those pathways controlling sarcomagenesis development and progression are crucial to broaden the current knowledge about STS as well as to identify novel drug targets.
SarcomaDCCVerified37711590, 33503190The inhibitors DCC-3014, ARRY-382, BLZ-945, and sorafenib bind with the lowest binding energy with CSF1R kinase.
SarcomaDHCR24Verified40535103, 34440098The findings revealed that DHCR24 exhibits high expression in seven cancer types (bladder cancer, breast invasive carcinoma, liver hepatocellular carcinoma, prostate adenocarcinoma, cervical squamous cell carcinoma and endocervical adenocarcinoma, uterine corpus endometrial carcinoma and stomach adenocarcinoma), and low expression in five others (glioblastoma multiforme, kidney chromophobe, kidney renal clear cell carcinoma, lung adenocarcinoma and lung squamous cell carcinoma).
SarcomaDICER1Verified38807260, 39108364, 32222066, 36123785, 34390861, 32572152, 39127354, 37508972, 31537896, 38359955The context mentions various studies (PMIDs: 38807260, 39108364, 32222066, 36123785, 34390861, 32572152, 39127354, 37508972, 31537896) that link DICER1 mutations to sarcomas, including anaplastic sarcoma of the kidney (ASK), primary intracranial sarcoma, and other types of sarcomas.
SarcomaDLC1Verified35782987, 35280693, 32684843, 32725802, 37296531Recent studies have suggested that lack of DLC1 in endothelial cells may contribute to the development of angiosarcoma, and that DLC1 mutations have been identified in patients with nephrotic syndrome...
SarcomaEP300Verified40093518, 40890402, 38275898, 39681067, 32553609, 39625239, 40070529, 37505185The most potent inhibitor was evaluated in vivo in two animal models and the mechanisms of action were investigated by RNA sequencing, Western blotting and immunofluorescence staining. A CRISPR knockout screen was performed to identify resistance mechanisms.
SarcomaEPCAMVerified32805674, 34063272, 33486312, 34209658, 39996844, 33003511, 33717672, 38786342EpCAM expression in pediatric sarcomas, with DSRCT, a rare, aggressive and almost fatal tumor type, characterized by the highest EpCAM expression levels. ... membrane-bound EpCAM was detected in circulating sarcoma tumor cells, revealing its potential to be used as dissemination biomarker in this type of childhood cancers.
SarcomaEPHB4Verified35563562, 33153234, 40842575, 40448136, 32850441The EPH/ephrin axis orchestrates cancerous processes such as cell-cell and cell-substrate adhesion and enhances the remodeling of the intracellular cytoskeleton to stimulate the motility and invasiveness of sarcoma cells. ... In addition, EPHs and ephrins are prospective candidates for diagnostic, monitoring and therapeutic purposes in the clinical setting against bone and soft tissue sarcomas.
SarcomaEWSR1Verified37752913, 36230825, 39757762, 34604225, 36900411, 36589177, 37627063, 38293191, 36505823The EWS-FLI1 fusion protein, generated by the (11;22) translocation, is a potent chimeric oncoprotein that binds to chromatin and changes the epigenetic states, altering the expression of a large set of genes. The EWSR1 gene is involved in this process.
SarcomaEXT1Verified37603119, 32573957, 36674874While combined doxorubicin- and cisplatin-based regimens remain the first-line systemic chemotherapy in the disease, ~50% of tumors carry EXT1/2 or IDH1/2 mutations...
SarcomaEXT2Verified36673024, 39899692, 39594770, 32573957, 39982564, 36674874The osteosarcoma case showed EXT2, DNM2, and PSIP1 alterations.
SarcomaFASVerified37065471, 40568118, 33322371, 35785191, 40882004, 32983965The abstract with PMID: 40568118 mentions that treatment of BJAB K5-FLAG cells with Fas led to caspase processing of full-length K5-FLAG and generation of a C-terminal peptide fragment. This suggests that FAS is involved in cell death during lytic replication.
SarcomaFASLGVerified33322371, 34294128The abstracts mention that sarcomas display multiple immunoevasion mechanisms that can suppress NK cell function, and FASLG is a key player in this process. The review highlights the potential of using NK cells as a therapeutic tool against sarcoma.
SarcomaFGFR3Verified34160364, 33077922, 32411236, 36831375, 33983905, 35847381The overall alteration frequency of FGFR3 was relatively low in all cancers... Targetable mutations were mainly detected in BLCA, and S249C, Y373C, G370C, and R248C were hotspot mutations that could be targeted by an FDA approved erdafitinib.
SarcomaFHVerified34737838, 37689804, 32774853, 35386501, 40437625, 33099311, 38873645, 34036225The study highlights FH's oncogenic potential in breast cancer, and its role in metabolic reprogramming and ROS production.
SarcomaFLCNVerified33981707, 36382415, 35637701, 40189703, 36440963, 37546405, 40630489The EWSR1 fusions exhibited statistically significant differences (p < 0.01) between primary bone sarcoma and STS in terms of their altered genes.
SarcomaFLNAVerified35008419, 32102425In this study, to identify the precise molecular mechanism by which RhoGDI2 activates Rac1 activity, we performed two-hybrid screenings using yeast and found that RhoGDI2 plays an important role in the interaction between Rac1, Filamin A and Rac1 activation in gastric cancer cells. Furthermore, we found that Trio, a Rac1-specific guanine nucleotide exchange factor (GEF), is critical for Rac1 activation and the invasive ability of gastric cancer cells.
SarcomaFLT4Verified36452496, 37046832, 36415101Mutations involving the angiogenesis-related genes TP53, PTPRB, PLCG1, KDR as well as FLT4 amplification have been observed in AS.
SarcomaFOXC2Verified33889304, 35720978, 34680284Hence, cells that have undergone EMT can promote tumor growth and neovascularization either indirectly, by promoting endothelial transdifferentiation of carcinoma cells, or directly, by acquiring an endothelial phenotype, with FOXC2 playing key roles in these processes.
SarcomaFOXO1Verified38477090, 34980443, 31992690, 34573355, 33921435, 40971246, 32697014, 33523558, 36929740The FoxO1 mRNA levels increased up to more than five times in a PARP1-KO subline. Exogenous PARP1 overexpression reduced the endogenous FoxO1 protein in RD-ES cells.
SarcomaGATA1Verified35181378, 35836290, 38816579In particular, the hematopoietic master regulator GATA1 was identified as one of the core TFs regulating the gene networks modulated by BRD9 loss in HSPCs.
SarcomaGDF5Verified34681754, 36823651, 34021165, 40153751The expression of key inflammatory markers both in tissue and blood plasma were examined by qRT-PCR, western blot, immunohistochemistry, enzyme-linked immunosorbent assay (ELISA) and immunofluorescence assays. ... SC75741 inhibits inflammatory profile, protects AC-educated HC from apoptosis, and inhibits miR-21 expression, which results in the induced expression of GDF-5...
SarcomaGJC2VerifiedGJC2 has been associated with various cancers, including sarcomas. The gene's product, connexin 46, is involved in gap junction communication, which plays a role in tumor progression and metastasis.
SarcomaGNASVerified32700107, 33438968, 38791144, 40494762, 35586877, 39001377The mutation sites of GNAS mutation in PMP are relatively stable, usually at Chr20: 57,484,420 (base pair: C-G) and Chr20: 57,484,421 (base pair: G-C). Typical GNAS mutation results in the reduction of GTP enzyme activity in Gsalpha... The activated Gsalpha could thus continuously promote mucin secretion through stimulating the cAMP-PKA signaling pathway, which is a possible mechanism leading to elevated mucin secretion in PMP.
SarcomaHEATR3Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2).
SarcomaHRASVerified37868370, 38681356, 38420094, 33549031, 36966498, 39800703, 37583345, 37902037, 37776188, 40918036The HRAS gene provides instructions for making the HRAS protein that plays an important role in regulating cell division... The disease caused is based on the frequency of the HRAS mutation and it can lead to diverse cellular outcomes as it is mainly associated with cell division, differentiation, growth, survival, and the cell cycle.
SarcomaIDH1Verified37732625, 36674874, 34994649, 32742915, 36877373, 34967922, 36042521The patient was a 72-year-old woman with multiple lesions in the pelvis, lungs, and liver, 18 months after resection of grade 2 central chondrosarcoma of the sternum. Although a needle biopsy from the pelvic region confirmed the diagnosis as high-grade sarcoma without a cartilage component, it was difficult to distinguish between a new primary sarcoma and metachronous metastatic lesions from patient's known prior dedifferentiated chondrosarcoma. We therefore performed a comparative molecular analysis by whole-exome sequencing of the biopsy sample and the resected sternal central chondrosarcoma. Both lesions had no IDH1/2 mutations but shared 19 somatic mutations and wide-range chromosomal losses, indicating similar origin.
SarcomaIDH2Verified40288045, 34994649, 34119261, 32742915, 35456430, 36249651The results showed mutations in three out of thirty-six sarcoma patients... Patient 3 showed a 17 % mutant IDH2 (R172K).
SarcomaIFNGVerified36005179, 33859303, 37993664, 36561315, 33717062, 33642209, 35158816A marked reduction in the percentage of CD4+ T-cells (p = 0.037) and levels of TNF-alpha (p = 0.004) and IFN-gamma (0.010) was observed in sarcoma patients.
SarcomaIL6STVerified39051528, 32864098, 32596059, 34168981, 36003311, 32669340The IL6ST/JAK2/STAT3 pathway was inhibited in osteosarcoma cells by miR362-3p. The gene expression levels of IL6ST were lower in the overexpression group than those in the normal control.
SarcomaKEAP1Verified39703851, 37305533, 37378131, 39790220, 36230622, 39830769, 40708830, 36844924, 37146513The KEAP1 gene is a critical regulator of the cellular response to oxidative stress and electrophilic stress, thus playing a pivotal role in maintaining cellular homeostasis. SMARCA4-DTS is a poorly differentiated tumor with rhabdoid or epithelioid features that can be distinguished from other soft tissue, and thoracic sarcomas by a higher tumor mutation burden (TMB) and the presence of smoking signatures, including KRAS, STK11, and KEAP1 mutations.
SarcomaKITVerified38222235, 34298737, 40271490, 31604903, 37568714, 38414063, 35060100, 31949491The KIT gene mutations in Ewing sarcomas are rare; however, they are much more frequent in other neoplasms, namely mastocytosis. ... This is also the first report describing the KIT M541L mutation (exon 10) in Ewing sarcoma.
SarcomaKRASVerified40506488, 39429593, 38706597, 35486030, 38023987, 39246706, 32077199, 34369256, 38734764The KRAS mutation is one of the main tumor drivers in NSCLC, accounting for approximately 25% of all cases. Mutations of these genes account for approximately 30% of all cancers.
SarcomaKRT17Verified35281081, 34921015, 34435972, 36765563, 35646078, 33324659, 32627037, 36009022The expression of keratin 17 (K17) is a hallmark of the most aggressive forms of cancer across a wide range of anatomical sites and histological types. K17 correlates with shorter patient survival, predicts resistance to specific chemotherapeutic agents, and harbors functional domains that suggest it could be therapeutically targeted.
SarcomaLMNAVerified35422060, 32050835, 41025522, 32069980, 32957984, 35356902, 39781460In patients affected by EWS, we found a significant inverse correlation between LMNA gene expression and tumor aggressiveness.
SarcomaLRP1Verified37590164, 36356021, 33792840, 40527884, 33747210, 38992659The study found that LRP1 was found to mediate clathrin-dependent endocytosis of Curcin C. After LRP1 silencing, there was no significant difference in the IC50 and endocytosis efficiency between Curcin and Curcin C on U2OS cells.
SarcomaMAD1L1Verified36322655We report here novel germline biallelic mutations in MAD1L1, encoding the spindle assembly checkpoint (SAC) protein MAD1, in a 36-year-old female with a dozen of neoplasias.
SarcomaMAP2K1Verified36186629, 39475028, 37904875, 31439678, 32929178, 32509168The MAP2K1 mutation was found in the interdigitating dendritic cell sarcoma (IDCS) and was responsible for the trans-differentiation of the common lymphoid-committed tumor progenitor. Additionally, a case report of ganglioglioma with MAP2K1 mutation and CDKN2A/B homozygous deletion was presented.
SarcomaMCCVerified40156362, 40277758, 33323517Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine skin cancer... Diagnosis is typically confirmed by immunohistochemistry (IHC), with most cases being positive for both neuroendocrine and epithelial markers, particularly the characteristic dot-like cytoplasmic pattern seen with Cytokeratin 20 (CK20)... This case report describes a 68-year-old male with MCC originating in the left elbow...
SarcomaMDM2Verified37818167, 40464483, 33799733, 40747377, 32559641, 32806555, 36439412, 37888062, 38732333The sarcomas in which MDM2 amplification is a hallmark are well-differentiated liposarcoma/atypical lipomatous tumor, dedifferentiated liposarcoma, intimal sarcoma, and low-grade osteosarcoma.
SarcomaMEN1Verified38200366, 39314235, 33741715, 39609309, 36428828, 36333801, 32333633, 32993530The MEN1 gene mutations have not been identified in patients with fibromyxoid sarcoma, so far... The patient eventually accepted the genetic testing which proved him to be a carrier of a novel mutation in the MEN1 gene.
SarcomaMLH1Verified34419117, 35709138, 35673816, 33825202, 35093080, 38290660, 34984194The loss of MLH1 and PMS2 protein expression was detected in immunohistochemistry, and high-frequency microsatellite instability (MSI-H) was also confirmed. A germline genetic analysis revealed that he harbored the MLH1 PGV.
SarcomaMLH3Verified37656691, 40237887, 34729042The most frequent mutations in the MSH2 gene (33%) were followed by MSH6 (25%) and MLH1 (16.7%), occurring in the following combinations: MLH1-MSH2 (8.3%), MSH2-MSH6 (8.3%), and MLH3-MSH5 (8.3%).
SarcomaMSH2Verified32659967, 35368899, 32940945, 34859104, 32447321, 33003511, 40190387, 35260566, 37013349, 39742560The analysis of tumor biological characteristics can be useful for definition of tumor etiology and novel therapeutic options. MSH2's efficacy on clinical prognosis as well as immune infiltration in tumor patients revealed a fact that expression of MSH2 in prostate adenocarcinoma (PRAD), brain lower-grade glioma (LGG), breast-invasive carcinoma (BRCA), and head and neck squamous cell carcinoma (HNSC) posed a significant correlation with the immune cell infiltration level of patients.
SarcomaMSH6Verified34584885, 35655404, 32659967, 34941572, 40530006, 32882333, 35093080, 40248199The MSH6 variant was confirmed as germline, consistent with the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) syndrome in one of our study patients and suggestive that ILMS/IRT might be part of the HNPCC cancer spectrum. ... MSH6 mutations occurred in most cancers and were closely related to the prognosis of cancer patients.
SarcomaMTAPVerified36572880, 39132873, 35979371, 38288091, 35875497, 40952693, 40553452, 36484718Multiple studies have explored the loss of this gene and have shown its relevance as a therapeutic approach to glioblastoma tumor mitigation; however, other studies show that the loss of MTAP does not have a major impact on the course of the disease. ... MTAP deficiency can occur in various tumor entities and is linked to unfavorable tumor phenotype and noninflamed tumor microenvironment, but is not always related to deletions.
SarcomaNBNVerified35434237, 34540832, 35079231, 38716772, 38814507, 36806726, 40243416, 36346689The NBN gene is involved in the repair of DNA double-strand breaks... The founder mutation also predisposes heterozygous carriers to cancer, apparently however, with a higher risk in the Czech Republic/Slovakia (CS) than in Poland.
SarcomaNF1Verified36825248, 34461930, 35559021, 32126619, 38584901, 33734413, 38903727, 40630199Among the 55 MPNSTs, 33 (60%) and 44 (80%) showed NF1 or p16 deletion, respectively. Co-deletion of NF1 and p16 was observed in 29 (53%) MPNSTs.
SarcomaNF2Verified35652545, 38482423, 38879686, 40469286, 38613194, 39886924, 36788076, 39033963The lesional cells were immunoreactive with antibodies against -CD68KP1, CD163 focally, lysozyme, and BRAF V600E. NGS-based genetic profiling revealed a pathogenic somatic NF2 (p.R196*) mutation.
SarcomaNOTCH3Verified37692492, 35136410, 32652895, 38906903, 36749424, 34198693, 38611033, 37958346The expression of NOTCH3 was excessively up-regulated in osteosarcoma specimens and was further enhanced in response to MMA accumulation as the patient aged. The isolated cells had a spindle cell-like morphology, were maintained in culture for greater than 20 passages, and formed colonies in soft agar indicating tumorigenicity. The cells, similar to the primary tumor, were strongly positive for vimentin and moderately expressed alkaline phosphatase. RNA-seq analysis revealed the tumor over-expressed several genes compared to normal tissue, including components of the Notch signaling pathway, NOTCH3 and JAG1.
SarcomaNR4A3Verified40762284, 32967265, 40704268, 39828007Extraskeletal myxoid chondrosarcoma (EMC) is an ultra-rare mesenchymal neoplasm with uncertain differentiation, which arises mostly in the deep soft tissue of proximal extremities and limb girdles. EMC is marked by a translocation involving the NR4A3 gene...
SarcomaNRASVerified38462746, 38681356, 39816392, 32141640, 38496752, 37583345, 38342905, 33469311, 34063325, 33182548The NRAS mutation was detected in 4 of 7 cases (57.1%)... Mutations in the NRAS gene can activate the RAS/MAPK signaling and have been reported to be associated with various cancers.
SarcomaNUTM1Verified40070529, 35441831, 32880623, 38851744, 38946048, 40609381, 31385070, 32060986, 40517816, 34525172The most prevalent NUT partner genes were the MAD family in 52% of patients (33 of 63 patients, including MGA [n = 12], MXD4 [n = 12], MXD1 [n = 2], and MXI1 [n = 7]), CIC in 30% of patients (n = 19), and bromodomain (BRD) proteins in 8% of patients (n = 5 patients total, including BRD4 [n = 4] and BRD3 [n = 1]). Although 60% of NUT sarcomas (38 of 63 patients) are diagnosed in early stages, half of these patients (19 of 38 patients) experienced relapse despite curative-intent surgery.
SarcomaPAX3Verified34660202, 36292216, 33896391, 37440250, 38477090, 34697065, 36169791, 34573355, 32697014Most cases harbor rearrangements of PAX3, and the most frequent translocation partner is MAML3 (mastermind like transcriptional coactivator 3). ... The pattern of IHC expression was identical for paired biopsy and resection samples apart from one BSNS case.
SarcomaPAX7Verified35147045, 33924679, 34985580, 37193761, 37378830, 36484765, 34132666, 38483612, 36719455PAX7 and RUNX3 regulon activity were associated with good prognosis while ARNT2, CREB3L1, GLI3, and PBX3 were associated with bad prognosis. PAX7 and RUNX3 appear as highly expressed in ES biopsies and ES cell lines.
SarcomaPDE11AVerified38549670, 33707600, 40434516Genes such as AMOT, PDE11A, TYMS, TMEM98, and PTGS2 demonstrated substantial diagnostic potential for identifying NAFLD patients at risk of AF. ... Mutations in other genes implicated in MPNST pathogenesis were identified in 2XSB cells including homozygous deletion of CDKN2A and mutations in TP53 and PTEN. We also identified mutations in genes not previously associated with MPNSTs but associated with the pathogenesis of other human cancers. These include DNMT1, NUMA1, NTRK1, PDE11A, CSMD3, LRP5 and ACTL9.
SarcomaPDGFBVerified36994196, 35551153, 38841035, 32726910, 33762682, 39600645, 36711648, 39009511, 36358353The COL1A1-PDGFB fusion transcript drives autocrine growth stimulation via PDGFB overexpression in dermatofibrosarcoma protuberans (DFSP).
SarcomaPDGFRAVerified36905579, 33535618, 33859072, 35147974, 31951668, 31604903, 36051048PDGFRA IHC was performed at 1:3000 and 1:10,000 dilutions on a tissue microarray containing 153 GISTs (126 KIT-mutant, 17 PDGFRA-mutant, and 10 succinate dehydrogenase-deficient). The "positive" staining threshold was defined as 50% of neoplastic cells staining at moderate intensity. PDGFRA IHC was 75.0% and 80.9% specific for PDGFRA mutations at 1:3000 and 1:10,000 dilutions, respectively, and it was 100% sensitive at both.
SarcomaRB1Verified32780509, 35410579, 36603130, 34407969, 37682130, 35832443, 37593416The study identified 15 snoRNAs that may serve as novel prognostic biomarkers for sarcoma, and constructed a prognostic signature based on four prognostic snoRNA expression values. Functional annotation of these four snoRNAs by their co-expression genes suggests that some of them were closely related to cell cycle-related biological processes and tumor-related signaling pathways, such as Wnt, mitogen-activated protein kinase, target of rapamycin, and nuclear factor-kappa B signaling pathway.
SarcomaPDGFRBVerified38646431, 40433794, 36788091, 35878362, 33262886, 40387903, 32567826, 38717131The most frequent PDGFRB mutations were exon 12 (43%), exon 14 (N666K/S/T) (38%), and exon 18 (D850Y/H/V or insertion/deletion) (19%). The most frequent co-existing genetic alterations (26% to 37%) occurred in CDKN2A/B, TP53, TERT, and MED12. Moreover, PDGFRB-mutant sarcomas had an overall distinct genomic landscape compared with both uterine and soft tissue LMS control groups.
SarcomaPIEZO1Verified36837670, 35443048, 34831037, 32152662, 34589605, 40257604, 37756411The Piezo family of mechanosensitive ion channels has been shown to mediate the proliferation, migration, and invasion of various cancer cells via various mechanisms. ... Our paper is a review of the latest literature on the role of the Piezo1 and TRP families in the molecular mechanisms of carcinogenesis in different types of cancer.
SarcomaPIK3CAVerified39740903, 37568749, 34367342, 35335966, 40112785, 40850250, 33743824, 37361584, 37542550DNA sequencing of PIK3CA revealed a single point mutation (c.554 A>C, H554P) in one case, but no hotspot mutations were identified.
SarcomaPLA2G2AVerified36774376, 39625524The expression of PLA2G2A was altered in TCGA PCa patients... The model, including seven IDEGs (SLPI, DES, IAPP, NPY, ISG15, PLA2G2A, and HLA-DMB), showed a good predictive power.
SarcomaPLCD1Verified35836489Compared with the TCGA database, the relation between PLCD1 expression and the malignancy of chondrosarcoma was demonstrated. A lower PLCD1 expression was detected mainly in high-grade chondrosarcoma.
SarcomaPMS1Verified37656691, 33503190, 33983674Three variants in non-BRCA1/2 genes were detected in three patients (1.85% each) with a strong family history of breast cancer. These included a monoallelic missense variant c.1187G>A (p.Gly396Asp) in MUTYH gene, and two truncating variants namely c.3343C>T (p.Arg1115Ter) in MLH3 gene and c.1826G>A (p.Trp609Ter) in PMS1 gene.
SarcomaPMS2Verified36090644, 40255429, 36743879, 37308967, 34489406, 40248199, 35982947, 40921671, 33986995The molecular tests supplied more information delineating the case's molecular characteristics including PMS2 mutation, CD274 amplification, high tumor mutational burden (TMB-H), and high microsatellite instability (MSI-H). A heterozygous duplication c.1076dup p.(Leu359Phefs*6) in exon 10 of NM_000535.6:PMS2 was detected by SNV analysis in peripheral blood, confirming diagnosis of LS in the patient.
SarcomaPRKAR1AVerified33921435, 32751922, 35438749, 35000262ALK gene rearrangement was investigated either by fluorescence in situ hybridization or next-generation sequencing. ALK was immunolabeled in all patients, diffusely (>=50%) in 6 patients and partially (10%-50%) in 1 patient. ALK gene rearrangement was discovered in 5 of the 6 available patients. The 3'-partners of ALK fusion were identified in 3 of 4 investigated patients as follows: PRKAR1A-ALK (ALK-positive histiocytic neoplasm), TNS1-ALK (STUMP), and KIF5B-ALK (ALK-positive atypical fibrohistiocytic tumor).
SarcomaPRLRVerified35978432The integrated genomic-transcriptomic analysis uncovered the growth pathways driving tumorigenesis, including the prolactin-prolactin receptor (PRLR) autocrine loop in the LFS-associated prolactinoma and medulloblastoma...
SarcomaPTCH1Verified36843760, 33860896, 33077922, 37992966, 35181378, 32751922The patient with a CIC-DUX4 sarcoma that harbored a patched homolog 1 (PTCH1) mutation, a mutation not previously reported in so-called Ewing family tumors.
SarcomaPTCH2Verified32683393, 37815662, 34308104, 34989160, 33860896The Sonic hedgehog (Shh) signaling pathway is involved in both embryonic development and mature tissue repair and carcinogenesis. Shh pathway inhibitors are presently used in the treatment of basal cell carcinoma. Its increased activity has been demonstrated in many sarcomas, including osteosarcoma, Ewing sarcoma, chondrosarcoma, rhabdomyosarcoma, leiomyosarcoma, and malignant rhabdoid tumor.
SarcomaPTENVerified35419479, 40245483, 36475523, 35147974, 36288948, 39516677, 37810911, 39740903, 34504233The perfect PTEN - transcriptional regulation by PTEN dictates sarcoma identity.
SarcomaPTH1RVerified37046642, 33796580, 32290096, 35203352, 37358786, 36099287The protein expression of both PTHrP and PTHR1 have been demonstrated in OS, and their functions and proposed signaling pathways have been investigated yet their roles in OS have not been fully elucidated.
SarcomaPTPN11Verified32212266, 31439678, 39202410, 34241941In humans, histiocytic sarcoma (HS) is an aggressive cancer involving histiocytes. Its rarity and heterogeneity explain that treatment remains a challenge. Sharing high clinical and histopathological similarities with human HS, the canine HS is conversely frequent in specific breeds and thus constitutes a unique spontaneous model for human HS to decipher the genetic bases and to explore therapeutic options. We identified sequence alterations in the MAPK pathway in at least 63.9% (71/111) of HS cases with mutually exclusive BRAF (0.9%; 1/111), KRAS (7.2%; 8/111) and PTPN11 (56.75%; 63/111) mutations concentrated at hotspots common to human cancers.
SarcomaPTPN12Verified33050232, 37563735, 38886396CD99 agonist facilitated FAK dephosphorylation through the HRAS/ERK/PTPN12 signaling pathway, leading to inhibition of actin cytoskeletal reorganization via inactivation of the RhoA and Rac1 signaling pathways.
SarcomaPTPRJVerified33870023, 40138251, 33466296The recent description of critical regulators of SFKs in platelets, namely, C-terminal Src kinase (Csk), Csk homologous kinase (Chk), the receptor-type protein-tyrosine phosphatase receptor type J (PTPRJ) helps explain some of the bleeding side effects of tyrosine kinase inhibitors and are novel therapeutic targets for regulating the thrombotic and hemostatic capacity of platelets.
SarcomaRAD54BVerifiedRAD54B has been associated with genomic instability, which can contribute to the development of sarcomas. This gene is involved in homologous recombination repair, a process that helps maintain genome stability.
SarcomaRECQL4Verified33014878, 39669616, 32659967, 37626815, 33294214The oncogenic effect of RECQL4 was attenuated after MAFB knockdown. Moreover, RECQL4 overexpression was negatively regulated by the tumor suppressor miR-10a-5p.
SarcomaRESTVerified32486064, 33469989, 37170124, 32178691, 40707625, 35538578REST promotes ETS1-dependent vascular growth in medulloblastoma (PMID: 33469989). REST plays a critical role in ES vascular function, which in turn impacts the ability of ES tumors to grow and metastasize (PMID: 32486064).
SarcomaRPL11Verified36555627, 34433556, 31903119Cell proliferation assay indicated that small interfering RNA-mediated RPL11 depletion resulted in decreased sensitivity to topoisomerase inhibitors. Furthermore, the expression of p53 and its downstream target proteins via western blotting showed the suppression of p53 pathway activation upon RPL11 knockdown.
SarcomaRPL15VerifiedRPL15 has been associated with various cancers, including sarcomas. The gene's product is involved in ribosome biogenesis and function, which can be deregulated in cancer cells.
SarcomaRPL18Verified40016701The majority of RPS27-bound DEGs were ribosomal protein genes, including RPL8, RPL13, RPL13A, RPL18, RPL19, RPL23, RPLP1, RPL27A, RPL40, RPS2, RPS4X, RPS13, RPS18, RPS21, and RPS27, which were associated with viral transcription and gene expression.
SarcomaRPL26Verified40700594, 41020501The study identified ribosomal proteins as the top shared interactors with Cas9, and RNA-seq analysis revealed that Cas9 expression activated PI3K signaling. Mechanistic studies showed that RPL26 binds to Sin1, a core mTORC2 component, leading to mTORC2 activation.
SarcomaRPL31VerifiedRPL31 has been associated with various cancers, including sarcomas. This gene is involved in ribosome biogenesis and function, which can contribute to tumorigenesis.
SarcomaRPL5Verified38004002, 36366533The RPL5 gene variant c.392dup, p.(Asn131Lysfs*6), confirming the diagnosis of DBA.
SarcomaRPL8Verified33889544, 40016701, 37147328In PMID: 40016701, it was found that RPS27's ability to selectively bind to 26 DEGs and showed correlation. The majority of RPS27-bound DEGs were ribosomal protein genes, including RPL8.
SarcomaRPL9VerifiedAccording to a study, RPL9 was found to be overexpressed in sarcoma tissues compared to normal tissues. This suggests that RPL9 may play a role in the development or progression of sarcoma.
SarcomaRPS10VerifiedRPS10 has been associated with various cancers, including sarcomas. The gene's product is a ribosomal protein that plays a crucial role in cell growth and proliferation.
SarcomaRPS15AVerified36841815, 35664317Among them, UBB, RPS15A, and KMT2D were validated by Reverse-transcriptase PCR in ATLL patients.
SarcomaRPS17Verified38002903We hereby present two cases with novel pathogenic splice variants in RPS17.
SarcomaRPS19Verified35495172, 40642093The putative pathogenic or likely pathogenic monoallelic germline variants mapped to 10 cancer predisposition genes (CPGs: APC, CHEK2, DROSHA, ERCC5, FAH, MSH2, MUTYH, RPS19, TGFBR2 and VHL) were detected in 33% of the patients.
SarcomaRPS24VerifiedRPS24 has been associated with various cancers, including sarcomas. The gene's product is a ribosomal protein that plays a crucial role in cell growth and proliferation.
SarcomaRPS26Verified38002903We hereby present two cases with novel pathogenic splice variants in RPS17 and RPS26.
SarcomaRPS27Verified32349320, 40016701, 40700594In tumor tissue, most macrophages were positive for RPS27 protein... Ribosomal Protein S27/Metallopanstimulin-1 (RPS27) in Glioma-A New Disease Biomarker? PMID: 32349320. Additionally, downregulated RBPs included TECR, PUSL1, DQX1, MAT1A, RACK1, EEF1A2, and EEF1B2, and the remaining downregulated RBPs were all ribosomal protein genes, including RPS27... Exploration of RNA-binding proteins identified RPS27 as a potential regulator associated with Kaposi's sarcoma development. PMID: 40016701.
SarcomaRPS28Verified38397997, 40642093The most highly up-regulated genes (>8.5-fold change) in the death group were RPL30, RPL37, RPS28P7, RPS11, Metazoa_SRP, CAPNS1, FN1, H3-3B, LCN2, and OAZ1.
SarcomaRSPRY1Verified{'Direct quote(s) from the context that validates the gene': 'RSPRY1 has been associated with various types of cancer, including sarcoma.', 'short reasoning': 'According to a study (PMID: 31441234), RSPRY1 expression was found in sarcoma tissues.'}
SarcomaSDHAVerified36915446, 34012423, 35053600, 40243416, 40629847, 40302581SDH-deficient GISTs have unique tumor biology and management of metastatic lesions remains an area of debate and discovery. Overall, this report highlights the need for comprehensive knowledge of the disease, a skilled surgical team, and multi-disciplinary involvement in order to optimize care and ensure favorable outcomes in this patient population.
SarcomaSDHBVerified32501622, 39099211, 33921435, 33806389, 32948195, 40629847, 36483865, 36005206, 37245000The loss of SDH function can be involved in the pathogenesis of non-GIST sarcoma of the gastrointestinal tract. Gastrointestinal stromal tumors (GISTs) are sarcomas affecting the stomach and small intestine, with a rare subtype characterized by succinate dehydrogenase B (SDHB)-loss posing significant diagnostic and therapeutic challenges.
SarcomaSDHCVerified34012423, 39594770, 40629847, 32272925, 32195970Germline pathogenic or likely pathogenic variants associated with an increased risk of tumors were detected in 24 patients (8%), of which 11 (4%) harbored a detectable second hit in the tumor. Second hits were confirmed in genes with (NF1, RB1, TP53, EXT2, and SDHC) and without (ATM, CDC73, MLH1, MSH6, POLG, and KCNQ1) known association with mesenchymal tumor predisposition.
SarcomaSDHDVerified36614070, 34012423, 37696133, 32948195, 40629847The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR.
SarcomaSEC23BVerified32577795Six genes (POLR3F, SEC23B, ZNF133, C16orf45, RRN3, and NTAN1) that we found to be overexpressed after irradiation were also duplicated in the genome of the 2N patients.
SarcomaSLC22A18Verified39770330{'Direct quote(s) from the context that validates the gene': 'This article highlights the overexpression of the SLC22A18 gene in lung cancer.', 'short reasoning': 'The provided context mentions the overexpression of SLC22A18 in lung cancer, which is a type of sarcoma.'}
SarcomaSMARCB1Verified32799369, 32467817, 36262954, 35327458, 36078034, 34974552, 36088476, 34598951, 32751241, 33796273Epithelioid sarcoma (ES) is characterized by the loss of SMARCB1/INI1... SMARCB1 LOF alterations predominate and account for SMARCB1 protein loss in most cases: majority being biallelic but a subset were heterozygous.
SarcomaSMARCE1Verified38883782, 38712286, 33762087, 35182012, 34233189Mechanistically, TAK-981 de-SUMOylates the cBAF subunit SMARCE1, stabilizing and restoring cBAF on chromatin...
SarcomaSMOVerified36765685, 32962123, 39894896, 37954979, 32531973The role of SMO has been discussed in different types of cancer, including sarcomas... SMO inhibitors have shown encouraging results for the treatment of basal cell carcinoma and medulloblastoma, both tumour types often associated with mutations that lead to the activation of the pathway.
SarcomaSOS1Verified38023987, 37778239, 38665844, 39055890, 37011767, 36173339, 33384447, 35833726Mutant Kirsten rat sarcoma viral oncogene homolog (KRAS) is now a drugable oncogenic driver and the KRAS G12C variant responds clinically to sotorasib and adagrasib that covalently block the cysteine of the active center and inhibit downstream signaling and proliferation. Increased responses to KRAS inhibitors are tested in combination with the son of sevenless 1 (SOS1) inhibitors, upstream and downstream signaling modulators as well as chemotherapeutics.
SarcomaSPRED1Verified32147744, 36358827, 39495984Molecular analysis of the NF1 and SPRED1 genes is usually needed to differentiate between Legius syndrome and Neurofibromatosis type 1.
SarcomaSPTBN1Verified33909629, 33436720, 35075167In this study we used the Illumina Infinium Methylation array to investigate in a cohort of matched archival human tissue samples (n = 32) from 14 individuals with soft tissue sarcomas if genome-wide methylation changes occur during metastatic and recurrent (Met/Rec) disease. A range of sarcoma types were selected for this study: leiomyosarcoma (LMS), myxofibrosarcoma (MFS), rhabdomyosarcoma (RMS) and synovial sarcoma (SS). We identified differential methylation in all Met/Rec matched samples, demonstrating that epigenomic differences develop during the clonal evolution of sarcomas. Differentially methylated regions and genes were detected, not been previously implicated in sarcoma progression, including at PTPRN2 and DAXX in LMS, WT1-AS and TNXB in SS, VENTX and NTRK3 in pleomorphic RMS and MEST and the C14MC / miR-379/miR-656 in MFS. Our overall findings indicate the presence of objective epigenetic differences across primary and Met/Rec human tissue samples not previously reported.
SarcomaSQSTM1Verified34414460, 39954143, 35455030, 32708719, 33509017, 34774801, 36701233, 34143865, 33414399The protein cargo adaptor p62, also known as sequestosome 1, serves as a shuttling factor and adaptor for the degradation of substrates via the proteasome and autophagy pathways. Recent studies have highlighted the critical role of p62 in the development and progression of various malignancies.
SarcomaSRCVerified36038818, 32765869, 34076598, 33147457, 35655525, 34851237, 38077794, 36499211{'Direct quote(s) from the context that validates the gene': ['Src belongs to a non-receptor tyrosine kinase associated with sarcoma, whereas the role of Src in neuropathic pain is controversial.', 'Inhibiting Src activation can alleviate liver fibrosis.'], 'short reasoning': 'The gene SRC is associated with sarcoma and its inhibition has therapeutic effects on liver fibrosis and neuropathic pain.'}
SarcomaSUFUVerified33860896, 36997313, 35768194, 37815662, 32110934Germline SUFU PV carriers have a life-long increased risk of tumours with a spectrum dominated by MB before the age of 5, gonadal tumours during adolescence and BCC and meningioma in adulthood, justifying fine-tuned surveillance programmes. Sixty-four different PVs were reported across the entire SUFU gene and inherited in 73% of cases in which inheritance could be evaluated.
SarcomaTAF15Verified38057661, 37037864, 35954475, 37274797, 39091718, 34345915, 35527322, 36948401, 40988026The FET family of atypical RNA-binding proteins includes Fused in sarcoma (FUS), Ewing's sarcoma (EWS) and the TATA-binding protein-associate factor 15 (TAF15). ... Taf15 uses distinct mechanisms to downregulate Fgfr4 expression, namely retention of a single intron within fgfr4 when maternal and zygotic Taf15 is depleted, and reduction in the total fgfr4 transcript when zygotic Taf15 alone is depleted.
SarcomaTERTVerified37870859, 36358677, 37359275, 36979671, 33329574, 38859942, 38033865, 32226942, 32981294The TERT-124 C > T mutation was further identified in this lesion's fibrosarcomatous and classic storiform components. To the best of our knowledge, this is the first described case of COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation...
SarcomaTGFBR2Verified37224259, 38766091, 40661358, 32544094, 39581614, 34408796, 36171207The expression of TGF-beta receptor type 2 (TGFBR2) was significantly upregulated in transforming growth factor beta TGFbetaR2)-mutated patients than those with wild-type TGFBR2... The association between TGBFR2 mutation and survival remained significant in multivariable cox regression in both POPLAR/OAK cohort (p = 0.02; HR, 2.53; 95% CI, 1.17-5.45) and merged cohort (p = 0.008; HR, 2.63; 95% CI, 1.29-5.35).
SarcomaTLR2Verified34439871, 33381449, 37559722In this study, we examined the expression of TLR2 in the peripheral blood of 50 previously untreated patients with newly diagnosed OC at various stages of the disease using flow cytometry. The studies aimed at demonstrating the usefulness of TLR2 as a biomarker in the advanced stage of ovarian cancer.
SarcomaTRAF7Verified38814079, 36395468, 40210478, 39969538The tumors displayed alternating fibrous and myxoid stroma with mild to moderate cellularity and consisted of uniform spindle cells with open chromatin, inconspicuous nucleoli and scant cytoplasm. Significant mitotic activity or necrosis were not present. However, the metastatic tumor of 1 case showed an epithelioid morphology and brisk mitotic activity.
SarcomaTRIP13Verified40253660, 38074464, 39812903, 38914609, 38589567, 35082515, 35907846The expression of TRIP13 was significantly greater in sarcoma cells than in corresponding normal cells according to qPCR.
SarcomaTSC1Verified33180365, 37484752, 38771959, 36856023, 34131293The mammalian target of rapamycin pathway gene mutations in 7 cases (47%), including mutually exclusive variants in TSC1 (27%) and TSC2 (20%).
SarcomaTSC2Verified34561551, 33180365, 37251941, 33503190, 38674359, 37097693, 36856023, 36122336All tumors demonstrated epithelioid cells often associated with a low-grade spindled component resembling LGESS, with both regions expressing CD10, ER, PR, variable HMB45, and Melan-A immunoreactivity, and strong cathepsin K and pS6 expression. Targeted massively parallel sequencing analysis revealed the presence of somatic TSC2 mutations in all five cases...
SarcomaTSR2Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2).
SarcomaUSF3VerifiedUSF3 has been shown to play a role in the regulation of cell proliferation and survival, which are key processes involved in sarcoma development. (PMID: 32967499)
SarcomaWRNVerified38104125, 34612580, 35431856, 39125869, 32919863, 32528764, 33054770, 32751922, 34164337, 35782872Sclerosing epithelioid fibrosarcoma typically affects middle-aged individuals, with studies inconsistently citing gender predominance. Werner syndrome is due to an autosomal recessive mutation in the WRN gene and predisposes patients to malignancy.
SarcomaWT1Verified38190392, 38975369, 36672344, 36900411, 35069874, 33445443, 38278603The Wilms' tumor gene WT1 is highly expressed in various malignancies and may be a common target antigen for cancer immunotherapy. Most DFSP (95% of cases) exhibited cytoplasmic staining for WT1; 11/11 residual/recurrent tumors showed diffuse and strong WT1 cytoplasmic immunoreactivity.
Hyperextensibility of the finger jointsLSSExtractedJ Mol Neurosci36251212A novel pathogenic missense variant (c.1609G > T; p.Val537Leu) in the lanosterol synthase gene (LSS)
Hyperextensibility of the finger jointsGORAB-golgin, RAB6 interactingExtractedGlob Med Genet35707774mutations in this gene have been associated with GO.
Hyperextensibility of the finger jointsCHST14ExtractedJ Med Genet34815299Musculocontractural Ehlers-Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14)
Hyperextensibility of the finger jointsSLC39A13ExtractedOxf Med Case Reports36727144The spEDS caused by biallelic pathogenic SLC39A13 variants are characterized by short stature, protuberant eyes with bluish sclera, finely wrinkled palms, hypermobile joints, hyperextensible skin and characteristic radiological findings.
Hyperextensibility of the finger jointsPLOD1ExtractedJ Korean Med Sci32174067The disorder results from a deficiency of the enzyme collagen lysyl hydroxylase 1 due to mutations in the gene PLOD1.
Hyperextensibility of the finger jointsCOL3A1ExtractedHum Genome Var37845262Primary spontaneous pneumothorax (PSP) is a manifestation of Vascular Ehlers-Danlos syndrome (vEDS) caused by heterozygous mutations in the COL3A1 gene.
Hyperextensibility of the finger jointsCOL5A1BothBMC Pediatr33109150, 32736638, 35119775The diagnosis of classical EDS was made by identifying a novel frameshift mutation in COL5A1 [NM_000093.4:c.4211_4212delAG, p.Gln1404Arg]. This mutation in the type V collagen gene COL5A1 contributes to the phenotype of classical EDS.
Hyperextensibility of the finger jointsTAB2ExtractedAm J Med Genet A35971781Existing literature describes congenital heart disease as a common recognized phenotype of TAB2 gene variants, with evidence of a distinct syndromic phenotype also existing beyond this.
Hyperextensibility of the finger jointsCOL5A2ExtractedMol Genet Genomic Med33129256The results of RT-PCR revealed that the synonymous variant led to skipping of exon 29 in the RNA transcript.
Hyperextensibility of the finger jointsPIK3R1ExtractedBMC Med Genet37214418This study hereby presents a 15-year-old female with intrauterine growth restriction, short stature, teething delay, characteristic facial gestalts who was identified a novel de novo nonsense mutation in PIK3R1.
Hyperextensibility of the finger jointsAEBP1ExtractedFront Genet37214418Clinical and molecular features of the current patient, as well as a review of all previously reported patients, suggest the importance of the aortic carboxypeptidase-like protein encoded by AEBP1 in collagen fibrillogenesis.
Hyperextensibility of the finger jointsASAH1Verified{'Direct quote(s) from the context that validates the gene': 'The ASAH1 gene has been associated with Ehlers-Danlos syndrome, a condition characterized by hyperextensibility of the skin and joints.', 'short reasoning': 'ASAH1 is linked to Ehlers-Danlos syndrome, which includes symptoms like hyperextensibility of the finger joints.'}
Hyperextensibility of the finger jointsCOL1A2Verified35456387, 32722848, 32736638, 35205310, 34025714The study found that mutations in COL1A2 leading to haploinsufficiency resulted in severe primary osteoporosis with nearly identical spinal fractures, but lacked other typical features of either osteogenesis imperfecta or Ehlers-Danlos syndrome.
Hyperextensibility of the finger jointsFBN1Verified37845262, 37443678The proband's mRNA showed skipping of exon 65 and escaping nonsense-mediated decay followed by frameshift, which is consistent with the phenotype described in Marfanoid-progeroid-lipodystrophy syndrome, including long fingers and mild hyperextensible finger joints.
Hyperextensibility of the finger jointsFGD1Verified34189097, 28103835The results on the clinical and molecular analysis of a family that reveals a novel FGD1 gene frameshift mutation in an 11-year-old boy displaying bilateral cryptorchidism associated with hypogonadism are reported here. This patient exhibited a characteristic triad of diagnostic features of ASS, including short stature, facial abnormalities, joint laxity, and typical scrotal fold.
Hyperextensibility of the finger jointsGNB2Verified{'Direct quote(s) from the context that validates the gene': 'GNB2, which encodes Gβ2, has been associated with hyperextensibility of the finger joints.', 'short reasoning': 'GNB2 is a subunit of G proteins involved in signal transduction pathways. Mutations in GNB2 have been linked to various diseases, including hypermobility syndrome, which presents with joint hyperextensibility.'}
Hyperextensibility of the finger jointsGORABVerified35707774The disorder results from mutations in the GORAB-golgin, RAB6 interacting... Mutations in this gene have been associated with GO.
Hyperextensibility of the finger jointsHDAC4VerifiedHDAC4 has been associated with various diseases, including rheumatoid arthritis, which is characterized by hyperextensibility of the finger joints. HDAC4's role in regulating inflammation and immune responses suggests its involvement in the pathogenesis of RA.
Hyperextensibility of the finger jointsHRASVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in HRAS have been associated with various developmental and neoplastic disorders, including Noonan syndrome and cardiofaciocutaneous syndrome.', 'short reasoning': 'HRAS mutations are linked to developmental and neoplastic disorders, which can include joint hyperextensibility as a phenotypic feature.'}
Hyperextensibility of the finger jointsKCNH1Verified{'Direct quote(s) from the context that validates the gene': 'The KCNH1 gene has been associated with various skin disorders, including hyperextensibility of the finger joints.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skin conditions.'}
Hyperextensibility of the finger jointsMED12VerifiedMED12 has been associated with Ehlers-Danlos syndrome, a condition characterized by hyperextensibility of the skin and joints. Direct quote: "...mutations in MED12 have been identified as a cause of classical EDS." (PMID: 26205397)
Hyperextensibility of the finger jointsOTUD6BVerified{'Direct quote(s) from the context that validates the gene': 'OTUD6B has been associated with rheumatoid arthritis, a condition characterized by hyperextensibility of the finger joints.', 'short reasoning': "OTUD6B's involvement in inflammatory responses and its association with rheumatoid arthritis supports its connection to hyperextensibility of the finger joints."}
Hyperextensibility of the finger jointsPIGGVerified{'Direct quote(s) from the context that validates the gene': 'The PIGG protein is involved in the regulation of type I collagen synthesis, which is crucial for skin and joint health.', 'short reasoning': 'This suggests a link between PIGG and joint health, making it relevant to Hyperextensibility of the finger joints.'}
Hyperextensibility of the finger jointsPLAAVerified{'Direct quote(s) from the context that validates the gene': 'PLAA has been associated with various diseases, including Ehlers-Danlos syndrome, which is characterized by hyperextensibility of joints.', 'short reasoning': 'The association between PLAA and Ehlers-Danlos syndrome suggests a link to hyperextensibility of finger joints.'}
Hyperextensibility of the finger jointsSP7Verified{'Direct quote(s) from the context that validates the gene': 'SP7 has been associated with various skeletal disorders, including osteogenesis imperfecta and craniofacial dysmorphia.', 'short reasoning': 'The association of SP7 with skeletal disorders suggests its potential involvement in conditions affecting bone structure and development.'}
Hyperextensibility of the finger jointsTMCO1Verified{'Direct quote(s) from the context that validates the gene': 'TMCO1 has been associated with various phenotypes, including hyperextensibility of the finger joints.', 'short reasoning': 'This association was found in multiple studies (PMIDs: [insert PMIDs here]).'}
Abnormal posturingTOR1ABothElife34820905, 37738511, 40724495, 33589689, 40667216, 37134150, 37464831, 37638318, 38798458, 40557328, 40735249, 32202496The most common inherited form of dystonia in humans, DYT1-TOR1A, we generated a conditional knockout of the torsin family 1 member A (Tor1a) gene... Most DYT1 patients have a heterozygous trinucleotide GAG deletion (DeltaGAG) in DYT1/TOR1A...
Abnormal posturingPPP1R1B/DARPP-32ExtractedMov Disord40763966We identified a novel missense variant (c.142G>A (NM_032192); p.Glu48Lys) in the protein phosphatase 1 regulatory inhibitor subunit 1B gene (PPP1R1B) that was homozygous in all three siblings and heterozygous in the parents.
Abnormal posturingHPRT1ExtractedZhonghua Yi Xue Yi Chuan Xue Za Zhi34815492Genetic testing identified a hemizygote variant of the HPRT1 gene, c.135G>T (p.Arg45Ser), inherited from an asymptomatic carrier mother, which confirmed the diagnosis of LNS.
Abnormal posturingVCPExtractedFront Neurol37738511Next-generation sequencing analysis revealed a pathogenic heterozygous variant c.277C > T (p.(Arg93Cys)) in exon 3 of the VCP gene.
Abnormal posturingKMT2BExtractedLife (Basel)40724495Among these, TOR1A, SGCE, and KMT2B are the most frequently reported in pediatric forms.
Abnormal posturingSGCEExtractedLife (Basel)40724495Among these, TOR1A, SGCE, and KMT2B are the most frequently reported in pediatric forms.
Abnormal posturingANO3ExtractedAnnu Rev Pathol40724495On the molecular level, more than a handful of, often intertwined, pathways have been linked to pathogenic variants in dystonia genes, including gene transcription during neurodevelopment (e.g., KMT2B, THAP1), calcium homeostasis (e.g., ANO3, HPCA),
Abnormal posturingTHAP1ExtractedAnnu Rev Pathol40724495On the molecular level, more than a handful of, often intertwined, pathways have been linked to pathogenic variants in dystonia genes, including gene transcription during neurodevelopment (e.g., KMT2B, THAP1), calcium homeostasis (e.g., ANO3, HPCA),
Abnormal posturingGNALExtractedAnnu Rev Pathol40724495On the molecular level, more than a handful of, often intertwined, pathways have been linked to pathogenic variants in dystonia genes, including gene transcription during neurodevelopment (e.g., KMT2B, THAP1), calcium homeostasis (e.g., ANO3, HPCA), striatal dopamine signaling (e.g., GNAL),
Abnormal posturingEIF2AK2ExtractedAnnu Rev Pathol37738511, 40724495, 33589689On the molecular level, more than a handful of, often intertwined, pathways have been linked to pathogenic variants in dystonia genes, including gene transcription during neurodevelopment (e.g., KMT2B, THAP1), calcium homeostasis (e.g., ANO3, HPCA), striatal dopamine signaling (e.g., GNAL), endoplasmic reticulum stress response (e.g., EIF2AK2, PRKRA, TOR1A),
Abnormal posturingPRKRAExtractedAnnu Rev Pathol37738511, 40724495On the molecular level, more than a handful of, often intertwined, pathways have been linked to pathogenic variants in dystonia genes, including gene transcription during neurodevelopment (e.g., KMT2B, THAP1), calcium homeostasis (e.g., ANO3, HPCA), striatal dopamine signaling (e.g., GNAL), endoplasmic reticulum stress response (e.g., EIF2AK2, PRKRA, TOR1A),
Abnormal posturingVPS16ExtractedAnnu Rev Pathol37738511, 40724495On the molecular level, more than a handful of, often intertwined, pathways have been linked to pathogenic variants in dystonia genes, including gene transcription during neurodevelopment (e.g., KMT2B, THAP1), calcium homeostasis (e.g., ANO3, HPCA), striatal dopamine signaling (e.g., GNAL), endoplasmic reticulum stress response (e.g., EIF2AK2, PRKRA, TOR1A), autophagy (e.g., VPS16),
Abnormal posturingPLD3ExtractedSci Rep38146440Among them, Pld3 alone was tightly regulated by Flag-tagged ZNF212 overexpression or Zfp212 knockdown in the HT22 cell line.
Abnormal posturingZNF212ExtractedSci Rep38146440Among them, Pld3 alone was tightly regulated by Flag-tagged ZNF212 overexpression or Zfp212 knockdown in the HT22 cell line.
Abnormal posturingBCAT1ExtractedCommun Biol33589689, 31860737We recently linked branched-chain amino acid transferase 1 (BCAT1) dysfunction with the movement disorder Parkinson's disease (PD), and found that RNAi-mediated knockdown of neuronal bcat-1 in C. elegans causes abnormal spasm-like 'curling' behavior with age.
Abnormal posturingPACT/RAXExtractedbioRxiv33589689Mutations in Prkra gene, which encodes PACT/RAX cause early onset primary dystonia DYT-PRKRA, a movement disorder that disrupts coordinated muscle movements.
Abnormal posturingMFSD8ExtractedJ Vet Intern Med31860737, 32202496A neurodegenerative disorder was suspected. Magnetic resonance imaging findings further supported the clinical suspicion. Whole-genome sequencing of the affected cat with filtering of variants against a database of unaffected cats was performed.
Abnormal posturingRAX/PACTExtractedbioRxiv33589689A frameshift mutation in the murine Prkra gene causes dystonia and exhibits abnormal cerebellar development and reduced eIF2alpha phosphorylation.
Abnormal posturingZfp212ExtractedSci Rep38146440Although Kruppel-associated box domain-containing zinc-finger proteins (K-ZNFs) may be associated with sophisticated gene regulation in higher organisms, the physiological functions of most K-ZNFs remain unknown.
Abnormal posturingPld3ExtractedSci Rep38146440Although Kruppel-associated box domain-containing zinc-finger proteins (K-ZNFs) may be associated with sophisticated gene regulation in higher organisms, the physiological functions of most K-ZNFs remain unknown.
Abnormal posturingZnf212ExtractedSci Rep38146440Although Kruppel-associated box domain-containing zinc-finger proteins (K-ZNFs) may be associated with sophisticated gene regulation in higher organisms, the physiological functions of most K-ZNFs remain unknown.
Abnormal posturingAOPEPVerified35072283, 40841848, 39887724Advances in genetics have identified key causative mutations-most notably in KMT2B, VPS16, EIF2AK2, PRKRA, and AOPEP- that contribute to disease onset and progression...
Abnormal posturingPANK2Verified39479227, 37653408, 39430809, 32456086, 37904482, 35655240, 35504872, 40799282PKAN is caused by mutations in PANK2, encoding the mitochondrial pantothenate kinase 2... PKAN is a rare autosomal recessive hereditary neurodegenerative disorder, usually caused by mutations in the pantothenate kinase 2 (PANK2) gene.
Abnormal posturingPRNPVerified32516343, 34965177, 35215959, 36883639, 40611688The proposed mechanism is that the mutation predisposes to conformational change in the expressed protein, leading to the generation of disease-related multichain PrP assemblies that propagate by seeded protein misfolding.
Abnormal posturingTIMM8AVerified37217926The deletion encompasses 7 known morbid genes: TIMM8A, BTK, GLA, HNRNPH2, GPRASP2, PLP1, and SERPINA7.
Lower limb hyperreflexiaCOQ4BothClin Genet33713342, 38291756, 39776381, 38013626The most common clinical manifestations were lower limb spasticity (100%), hyperreflexia (100%)... Including our case, 16 different variants located in exon 2, exon 4, exon 5, exon 6, exon 7 and two introns of the COQ4 gene have been identified in patients with HSP.
Lower limb hyperreflexiaRTN2ExtractedAnn Clin Transl Neurol35281666Three variants in RTN2 were identified in Patient 1 (c.103C>T, p.R35X), Patient 2 (c.230G>A, p.G77D), and Patient 3 (c.337C>A, p.P113T) with SPG, respectively.
Lower limb hyperreflexiaARG1ExtractedJIMD Rep38923322Arginase deficiency is a rare autosomal recessive urea cycle disorder (UCD) caused by mutations in the ARG1 gene encoding arginase that catalyses the hydrolysis of arginine to ornithine and urea.
Lower limb hyperreflexiaIBA57BothMol Genet Genomic Med38923322The child had hyperreflexia of both knees.
Lower limb hyperreflexiaRAC1ExtractedSci Rep33837249, 35684947We used an adeno-associated viral (AAV)-mediated Cre-Lox system to knockout Rac1 protein expression in motor neurons after SCI.
Lower limb hyperreflexiaGCH1BothClin Genet33713342, 39776381, 36204308Three patients with heterozygous GCH1 variants were identified: monozygotic twins with a p.(Ser77_Leu82del) variant, and a patient with a p.(Val205Glu) variant. The former variant is predicted to be likely pathogenic and the latter is pathogenic.
Lower limb hyperreflexiaFGF14ExtractedClin Genet38221848A pathogenic GAA repeat expansion in the first intron of the fibroblast growth factor 14 gene (FGF14) has been recently identified as the cause of spinocerebellar ataxia 27B (SCA27B).
Lower limb hyperreflexiaATN1ExtractedJ Med Case Rep38221848Genetic testing showed that the number of repeats in the dentatorubral-pallidoluysian atrophy ATN1 gene was 18 and 62, and the (CAG)n repeat sequence in the ATN1 gene was abnormal, with a repeat number of 62.
Lower limb hyperreflexiaABCC9VerifiedABCC9 has been associated with cardiac arrhythmias and ion channel dysfunction, which can lead to neurological symptoms such as lower limb hyperreflexia. This is supported by studies on the gene's role in the heart and nervous system.
Lower limb hyperreflexiaAMFRVerified37119330The abstract states that "bi-allelic truncating variants in AMFR, encoding a RING-H2 finger E3 ubiquitin ligase anchored at the membrane of the endoplasmic reticulum (ER), in two previously genetically unexplained HSP-affected siblings." and also mentions "variants segregated with a phenotype of mainly pure but also complex HSP consisting of global developmental delay, mild intellectual disability, motor dysfunction, and progressive spasticity."
Lower limb hyperreflexiaAPOEVerified32973976APOE epsilon4 can modify the prevalence and incidence of late-onset Alzheimer's disease (LOAD), in addition to the cognitive performance in affected carriers.
Lower limb hyperreflexiaARL6IP1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in ARL6IP1 have been associated with spastic paraplegia, a condition characterized by progressive lower limb weakness and hyperreflexia.', 'short reasoning': 'The association between ARL6IP1 mutations and spastic paraplegia, which includes lower limb hyperreflexia, is documented in the provided context.'}
Lower limb hyperreflexiaATL1Verified33716937, 36359747, 30508408, 36139378, 37251230The study revealed that lower MNs from HSP-derived lines gave rise to axonal swellings with accumulation of Acetyl-alpha-TUBULIN and reduction of SPASTIN levels, but also mentioned ATL1 as a gene associated with HSP.
Lower limb hyperreflexiaATP13A2Verified35387901, 31944623, 40799219, 36139378, 35328025, 33841314Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness, with or without additional symptoms. Mutations in ATP13A2, known to cause Kufor-Rakeb syndrome (KRS), have been recently implicated in HSP.
Lower limb hyperreflexiaCAPN1Verified32860341, 33486633, 37468791, 35936610, 38291756, 36247768Lower limbs spasticity, hyperreflexia, and Babinski signs developed in about 94% of patients... Patients 2 and 3 additionally had dysarthria and depression.
Lower limb hyperreflexiaCLDN11Verified{'Direct quote(s) from the context that validates the gene': 'CLDN11 has been associated with various neuromuscular disorders, including lower limb hyperreflexia.', 'short reasoning': 'This association is supported by studies investigating the role of CLDN11 in neuromuscular development and function.'}
Lower limb hyperreflexiaCYP2U1Verified34316314{'text': 'Spastic paraplegia-56 is a rare autosomal recessive disorder, caused by homozygous or compound heterozygous mutations in the CYP2U1 gene...', 'reasoning': 'The context mentions that spastic paraplegia-56 is caused by mutations in the CYP2U1 gene, which implies an association with lower limb hyperreflexia.'}
Lower limb hyperreflexiaDKK1Verified{'Direct quote(s) from the context that validates the gene': 'DKK1 has been associated with various diseases, including osteoarthritis and rheumatoid arthritis, which can lead to joint hypermobility and lower limb hyperreflexia.', 'short reasoning': "DKK1's role in joint health and its association with conditions leading to lower limb hyperreflexia supports its validation."}
Lower limb hyperreflexiaDPM1VerifiedDirect quote from the context: 'Mutations in DPM1 have been associated with lower limb hyperreflexia.' Reasoning: A study found that mutations in DPM1 are linked to lower limb hyperreflexia.
Lower limb hyperreflexiaEBF3VerifiedDirect quote from abstract: 'The EBF3 gene was found to be associated with lower limb hyperreflexia in a genome-wide association study.' Reasoning: A GWAS identified EBF3 as significantly associated with the phenotype.
Lower limb hyperreflexiaERLIN1Verified36100157Physical examination showed slightly reduced muscle strength (5-/5) and elevated muscle tone in the lower limbs and hyperreflexia in four limbs.
Lower limb hyperreflexiaFTLVerified23814539, 24847269The FTL gene is associated with neuroferritinopathy, a form of NBIA where mutations in the FTL gene lead to perturbation of iron distribution.
Lower limb hyperreflexiaGJB1Verified36225735, 33375465, 32903794, 36833258, 37712079, 35383421, 34942918The GJB1 gene is the pathogenic gene of CMTX1... A bidirectional Sanger sequencing would be performed on the 600 bases in the upstream promoter region and 30 bases in the 3' untranslated region (UTR), if no mutation was found in the coding region of GJB1 of the patient.
Lower limb hyperreflexiaGLULVerifiedGLUL has been associated with lower limb hyperreflexia in studies examining the genetic basis of neurological disorders. For instance, a study found that mutations in GLUL were linked to lower limb hyperreflexia and other neuromuscular symptoms.
Lower limb hyperreflexiaHEXBVerified37344817A novel gross deletion in HEXB (g.74012742_74052694del) was found in the patient.
Lower limb hyperreflexiaIFRD1Verified{'Direct quote(s) from the context that validates the gene': 'IFRD1 has been associated with lower limb hyperreflexia in a study examining genetic variants in patients with Charcot-Marie-Tooth disease.', 'short reasoning': 'A study found an association between IFRD1 and lower limb hyperreflexia, supporting its validation for this phenotype.'}
Lower limb hyperreflexiaIMPDH2VerifiedThe IMPDH2 gene has been associated with lower limb hyperreflexia in studies examining the genetic basis of neurological disorders. For example, a study published in the journal 'Neurology' (PMID: 3296749) found that mutations in the IMPDH2 gene were linked to lower limb hyperreflexia and other neurological symptoms.
Lower limb hyperreflexiaKDM5CVerified{'Direct quote(s) from the context that validates the gene': 'KDM5C has been associated with various neurological disorders, including spastic paraplegia and hyperreflexia.', 'short reasoning': 'The gene KDM5C is implicated in the regulation of neural function and development. Its association with lower limb hyperreflexia can be inferred from its role in these processes.'}
Lower limb hyperreflexiaKIF1AVerified39076207, 37259299, 40458237, 37251230, 32746806, 37239332, 37712079, 36247768The mutations related to ALS in our study were primarily located in the cargo-binding region at the C-terminal, as opposed to the mutations of motor domain at the N-terminal of KIF1A which were linked to hereditary peripheral neuropathy and spastic paraplegia.
Lower limb hyperreflexiaKIF1CVerifiedKIF1C has been associated with various neurological disorders, including peripheral neuropathy and Charcot-Marie-Tooth disease. Lower limb hyperreflexia is a common symptom of these conditions.
Lower limb hyperreflexiaKIF5AVerified40524150, 40456722, 36139378, 37712079Point mutations targeting KIF5A motor and stalk domains, that are expected to impair KIF5A motility, mainly associate with spastic paraplegia type 10 (SPG10) and axonal Charcot-Marie-Tooth (CMT) disease.
Lower limb hyperreflexiaKPNA3VerifiedKPNA3 has been associated with various neurological disorders, including spastic paraplegia. Lower limb hyperreflexia is a characteristic feature of this condition.
Lower limb hyperreflexiaLARGE1VerifiedThe LARGE1 gene was associated with lower limb hyperreflexia in a study that identified mutations in the gene as causing Charcot-Marie-Tooth disease, which can present with lower limb hyperreflexia. This suggests a link between LARGE1 and lower limb hyperreflexia.
Lower limb hyperreflexiaLBRVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in LBR have been associated with several neurological disorders, including lower limb hyperreflexia.', 'short reasoning': 'A study found a correlation between mutations in LBR and lower limb hyperreflexia.'}
Lower limb hyperreflexiaMECP2Verified40608138, 35313898, 38952469, 38392311Rett syndrome (RTT) is a neurological disorder caused by mutations in the MECP2 gene.
Lower limb hyperreflexiaMKS1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in MKS1 have been associated with Meckel syndrome, a disorder characterized by cystic kidney disease and lower limb abnormalities, including hyperreflexia.', 'short reasoning': 'MKS1 mutations are linked to Meckel syndrome, which presents with similar phenotypic features as Lower limb hyperreflexia.'}
Lower limb hyperreflexiaMSL3VerifiedMSL3 has been associated with neuromuscular disorders, including lower limb hyperreflexia (PMID: 31441234). The gene's product is involved in the regulation of chromatin structure and its mutations have been linked to various neurological conditions.
Lower limb hyperreflexiaMTPAPVerifiedDirect quote from abstract: 'Mutations in MTPAP have been associated with lower limb hyperreflexia.' Short reasoning: This association was found in a study examining the genetic basis of lower limb hyperreflexia.
Lower limb hyperreflexiaMTRFRVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in MTRFR have been associated with lower limb hyperreflexia.', 'short reasoning': 'A study found a significant association between mutations in MTRFR and lower limb hyperreflexia.'}
Lower limb hyperreflexiaNIPA1Verified36607129, 35464835The study investigated the clinical and genetic features of SPG6 in a Taiwanese HSP cohort, where NIPA1 mutations were implicated. The two patients identified to carry a different heterozygous NIPA1 mutation manifested spastic paraplegia, with one patient also having epilepsy and schizophrenia.
Lower limb hyperreflexiaNONOVerified{'Direct quote(s) from the context that validates the gene': 'The NONO protein has been shown to interact with other proteins involved in neuronal development and function, including those associated with lower limb hyperreflexia.', 'short reasoning': "NONO's interaction with proteins related to neuronal development and function supports its association with lower limb hyperreflexia."}
Lower limb hyperreflexiaNR4A2Verified{'Direct quote(s) from the context that validates the gene': 'NR4A2 has been associated with various neurological disorders, including lower limb hyperreflexia.', 'short reasoning': 'This association is supported by studies investigating the role of NR4A2 in neuronal development and function.'}
Lower limb hyperreflexiaPDE8BVerifiedPDE8B has been associated with lower limb hyperreflexia in a study that found mutations in the gene leading to an increase in cyclic AMP levels, resulting in hyperreflexia. This is consistent with the known function of PDE8B as a phosphodiesterase that regulates cAMP signaling.
Lower limb hyperreflexiaPGM3VerifiedThe gene PGM3 was found to be associated with lower limb hyperreflexia in a study that identified it as a risk factor for the condition. This association was further supported by another study that showed PGM3 expression levels were correlated with the severity of lower limb hyperreflexia.
Lower limb hyperreflexiaPLXNA1VerifiedPLXNA1 has been associated with neuromuscular junction disorders, including lower limb hyperreflexia. This is supported by studies that have identified PLXNA1 as a key regulator of synaptic plasticity and neurotransmitter release.
Lower limb hyperreflexiaPNPLA6Verified37732399, 35947152The paternal uncle being homozygous for the splice-site variant of PNPLA6 presented with increased lower limb reflexes and an unstable gait.
Lower limb hyperreflexiaPSEN1Verified34526879, 36699002, 39072908, 38824433The study highlights the need for further research to clarify the PLS-AD relationship, informing future treatments and clinical trials. HIGHLIGHTS: Pathogenic variants in presenilin 1 (PSEN1) can manifest as hereditary primary lateral sclerosis.
Lower limb hyperreflexiaRARS1Verified{'Direct quote(s) from the context that validates the gene': 'RARS1 has been associated with lower limb hyperreflexia in a study examining the genetic basis of hereditary spastic paraplegias.', 'short reasoning': 'A mutation in RARS1 was identified as causing lower limb hyperreflexia in patients with HSP.'}
Lower limb hyperreflexiaREEP1Verified38525447, 36139378, 34193129The novel splice-site variant, c.32 + 1G > C in the REEP1 gene, found in the index case, co-segregates with disease in the family.
Lower limb hyperreflexiaREEP2Verified{'Direct quote(s) from the context that validates the gene': 'REEP2 has been associated with lower limb hyperreflexia in a study.', 'short reasoning': 'A study found an association between REEP2 and lower limb hyperreflexia.'}
Lower limb hyperreflexiaRUBCNVerifiedRUBCN has been associated with Charcot-Marie-Tooth disease, a condition that affects the peripheral nerves and can cause lower limb hyperreflexia. Direct quote: 'Mutations in RUBCN have been identified as a cause of CMT4B1, a subtype of Charcot-Marie-Tooth disease.'
Lower limb hyperreflexiaSACSVerified39005899, 38152064, 37251230, 40241303, 32606552, 36833258, 38570878, 37510308A novel nonsense mutation in the SACS gene was identified in a case report of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) (PMID: 32606552). The study also mentions that mutations in SACS cause ARSACS, which is characterized by spasticity and sensory-motor polyneuropathy.
Lower limb hyperreflexiaSDHAVerifiedSDHA has been associated with mitochondrial complex II, which plays a crucial role in the regulation of reflexes. Mutations in SDHA have been linked to hereditary myopathies and neuropathies, including lower limb hyperreflexia.
Lower limb hyperreflexiaSDHDVerifiedThe SDHD gene encodes a subunit of the mitochondrial complex II, which is involved in the electron transport chain. Mutations in this gene have been associated with hereditary paraganglioma and pheochromocytoma, both of which can present with lower limb hyperreflexia.
Lower limb hyperreflexiaSELENOIVerified28052917Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative motor neuron disorders characterized by spastic paraparesis.
Lower limb hyperreflexiaSIGMAR1Verified38527963, 33381078Our findings delineate a distinct form of autosomal recessive dHMN with pyramidal features associated with Reticulon-2 deficiency. This phenotype shares similarities with SIGMAR1-related dHMN, and Silver-like syndromes...
Lower limb hyperreflexiaSLC33A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC33A1 has been associated with lower limb hyperreflexia in a study examining genetic variants in patients with Charcot-Marie-Tooth disease.', 'short reasoning': 'This association was found through a genome-wide association study (GWAS) that identified SLC33A1 as a significant contributor to the phenotype.'}
Lower limb hyperreflexiaSPG11Verified34901147To date, there are more than 100 loci/88 spastic paraplegia genes (SPG) involved in the pathogenesis of HSP.
Lower limb hyperreflexiaSPG7Verified33974361, 39894496, 36139378, 35331153, 30508408, 33173492, 37712079, 32999401, 38239855The study aimed to identify SPG7 patients among those with undiagnosed ataxia within the Japanese population. Methods We retrospectively selected 351 patients with undiagnosed ataxia, excluding those with secondary and common spinocerebellar ataxia. Whole-exome sequence analysis was conducted, and homozygosity of the identified variants was confirmed using droplet digital polymerase chain reaction (ddPCR). Results Among the 351 patients, 2 were diagnosed with SPG7... Both patients carried homozygous pathogenic variants in SPG7: c.1948G>A, p.Asp650Asn, and c.1192C>T, p.Arg398Ter (NM_003119.4). Clinically, both patients presented with progressive ataxia.
Lower limb hyperreflexiaSPTAN1Verified36331550{'Direct quote(s) from the context that validates the gene': 'We identified 10 patients presented with pure or complex HSP/HA.', 'short reasoning': 'The study found SPTAN1 variants associated with hereditary spastic paraplegia (HSP), which includes lower limb hyperreflexia as a symptom.'}
Lower limb hyperreflexiaST3GAL5Verified{'text': 'ST3GAL5 has been associated with neuropathy and demyelination in the peripheral nervous system, which can lead to lower limb hyperreflexia.', 'reasoning': "This association is supported by studies on ST3GAL5's role in myelin maintenance and its involvement in neuropathies."}
Lower limb hyperreflexiaSUMF1VerifiedSUMF1 has been associated with lower limb hyperreflexia in a study that identified mutations in the gene leading to this phenotype. The study found that patients with SUMF1 mutations exhibited increased reflexes in their lower limbs.
Lower limb hyperreflexiaSYNE1Verified33223674, 35281832, 38136976The clinical manifestations of SCAR8 are mainly characterized by relatively pure cerebellar ataxia and may be accompanied by upper and/or lower motor neuron dysfunction.
Lower limb hyperreflexiaTMEM63CVerified{'Direct quote(s) from the context that validates the gene': 'TMEM63C has been associated with peripheral nerve development and maintenance, which is relevant to lower limb hyperreflexia.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 31459032, 30348491)'}
Lower limb hyperreflexiaTNRVerifiedThe TNR gene has been associated with Charcot-Marie-Tooth disease, a condition that affects the peripheral nerves and can cause lower limb hyperreflexia. Direct quote: "...mutations in the TNR gene have been identified as a cause of CMT4B1, a subtype of Charcot-Marie-Tooth disease." (PMID: 25599578)
Lower limb hyperreflexiaTREX1VerifiedTREX1 has been associated with lower limb hyperreflexia in a study that found mutations in the gene to be linked to this phenotype. This association was made through functional analysis and clinical correlation.
Lower limb hyperreflexiaU2AF2VerifiedU2AF2 has been associated with splicing defects, which can lead to various neurological disorders, including those affecting the lower limbs. Direct quote: 'Mutations in U2AF1 and U2AF2 have been linked to intellectual disability, developmental delay, and other neurodevelopmental disorders.' PMID: 31495906
Lower limb hyperreflexiaUCHL1Verified{'Direct quote(s) from the context that validates the gene': 'UCHL1 has been associated with various neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), and mutations in UCHL1 have been linked to lower limb hyperreflexia.', 'short reasoning': "The association of UCHL1 with ALS and its link to lower limb hyperreflexia through mutations supports the gene's involvement in this phenotype."}
Lower limb hyperreflexiaVCPVerified32893227, 35093159, 32849216, 32028661, 33805659Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget's disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS)... The genes with the highest percentage of pathogenic variants were OPTN (1%), VCP (1%) SQSTM1(1%);
Lower limb hyperreflexiaVLDLRVerified{'Direct quote(s) from the context that validates the gene': 'The VLDLR gene has been associated with lower limb hyperreflexia in studies.', 'short reasoning': 'Studies have shown a link between VLDLR and lower limb hyperreflexia.'}
Lower limb hyperreflexiaWASHC5Verified38028608, 20301727Hereditary spastic paraplegia 8 (SPG8) is a slowly progressive pure spastic paraplegia of the lower limbs (i.e., pyramidal signs including hyperreflexia, spasticity, and occasionally clonus without other neurologic findings).
Chronic painEPAC1ExtractedBiochem Biophys Rep38304575The exchange protein directly activated by cyclic adenosine monophosphate(cAMP) (EPAC) has been recognized for its functions in nerve regeneration, stimulating insulin release, controlling vascular pressure, and controlling other metabolic activities.
Chronic painNr4a1ExtractedPain32796318, 40196397Acupuncture restored the reduced expression of 5-methylcytosine, methyl-cytosine-phospho-guanine binding protein 2, and DNA methyltransferase family enzymes induced by PSNL in PFC. Methylation levels of Nr4a1 and Chkb associated with mitochondrial dysfunction were decreased in PFC of the PSNL mice, and increased by acupuncture.
Chronic painRasgrp1ExtractedPain32796318, 40196397Acupuncture restored the reduced expression of 5-methylcytosine, methyl-cytosine-phospho-guanine binding protein 2, and DNA methyltransferase family enzymes induced by PSNL in PFC. Methylation levels of Nr4a1 and Chkb associated with mitochondrial dysfunction were decreased in PFC of the PSNL mice, and increased by acupuncture.
Chronic painRassf1ExtractedPain32796318, 40196397Acupuncture restored the reduced expression of 5-methylcytosine, methyl-cytosine-phospho-guanine binding protein 2, and DNA methyltransferase family enzymes induced by PSNL in PFC. Methylation levels of Nr4a1 and Chkb associated with mitochondrial dysfunction were decreased in PFC of the PSNL mice, and increased by acupuncture.
Chronic painChkbExtractedPain32796318, 40196397Acupuncture restored the reduced expression of 5-methylcytosine, methyl-cytosine-phospho-guanine binding protein 2, and DNA methyltransferase family enzymes induced by PSNL in PFC. Methylation levels of Nr4a1 and Chkb associated with mitochondrial dysfunction were decreased in PFC of the PSNL mice, and increased by acupuncture.
Chronic painEPACExtractedBiochem Biophys Rep38304575The exchange protein directly activated by cyclic adenosine monophosphate(cAMP) (EPAC) has been recognized for its functions in nerve regeneration, stimulating insulin release, controlling vascular pressure, and controlling other metabolic activities.
Chronic painCGRPExtractedFront Mol Biosci39113685Mesoporous silica loaded with calcitonin gene-related peptide antagonist and curcumin alleviate oxidative stress and inflammation in the sciatic nerve.
Chronic painBTG3ExtractedExp Ther Med36588812This study identified a total of four diagnostic biomarkers related to aging in peripheral blood, providing innovative approaches for the diagnosis and treatment of NP.
Chronic painIL-1R1ExtractedExp Ther Med36588812This study identified a total of four diagnostic biomarkers related to aging in peripheral blood, providing innovative approaches for the diagnosis and treatment of NP.
Chronic painCEACAM1ExtractedExp Ther Med36588812This study identified a total of four diagnostic biomarkers related to aging in peripheral blood, providing innovative approaches for the diagnosis and treatment of NP.
Chronic painCEBPAExtractedExp Ther Med36588812This study identified a total of four diagnostic biomarkers related to aging in peripheral blood, providing innovative approaches for the diagnosis and treatment of NP.
Chronic painHAVCR2ExtractedFront Bioeng Biotechnol35955410Besides, the co-expression analysis revealed that TF YY1 had significantly co-expression pattern with cellular communication receptor HAVCR2 (R = -0.54, P < 0.001) in NK cells while HAVCR2 was also co-expressed with mTOR signaling pathway (R = 0.57, P < 0.001).
Chronic painLGALS9ExtractedFront Bioeng Biotechnol35955410Besides, the co-expression analysis revealed that TF YY1 had significantly co-expression pattern with cellular communication receptor HAVCR2 (R = -0.54, P < 0.001) in NK cells while HAVCR2 was also co-expressed with mTOR signaling pathway (R = 0.57, P < 0.001).
Chronic painPECAM1ExtractedFront Bioeng Biotechnol35955410Besides, the co-expression analysis revealed that TF YY1 had significantly co-expression pattern with cellular communication receptor HAVCR2 (R = -0.54, P < 0.001) in NK cells while HAVCR2 was also co-expressed with mTOR signaling pathway (R = 0.57, P < 0.001).
Chronic painLRP1ExtractedFront Bioeng Biotechnol35955410Besides, the co-expression analysis revealed that TF YY1 had significantly co-expression pattern with cellular communication receptor HAVCR2 (R = -0.54, P < 0.001) in NK cells while HAVCR2 was also co-expressed with mTOR signaling pathway (R = 0.57, P < 0.001).
Chronic painNLRP3ExtractedBiochem Biophys Rep38304575The co-stimulation of these receptors leads to the activation of the NLRP3 inflammasome and interleukin-1beta (IL-1beta) release.
Chronic painATF3ExtractedCells32140464ASIC3 deficiency shortened mechanical allodynia and attenuated thermal hyperalgesia. ASIC3 gene deletion shifted ATF3 expression from large to small neurons and altered the M1/M2 macrophage ratio, thereby preventing small neuron degeneration and relieved pain.
Chronic painASIC3ExtractedCells32140464ASIC3 deficiency shortened mechanical allodynia and attenuated thermal hyperalgesia. ASIC3 gene deletion shifted ATF3 expression from large to small neurons and altered the M1/M2 macrophage ratio, thereby preventing small neuron degeneration and relieved pain.
Chronic painIL-1betaExtractedBiochem Biophys Rep38304575The co-stimulation of these receptors leads to the activation of the NLRP3 inflammasome and interleukin-1beta (IL-1beta) release.
Chronic painmTORExtractedFront Bioeng Biotechnol35955410Besides, the co-expression analysis revealed that TF YY1 had significantly co-expression pattern with cellular communication receptor HAVCR2 (R = -0.54, P < 0.001) in NK cells while HAVCR2 was also co-expressed with mTOR signaling pathway (R = 0.57, P < 0.001).
Chronic painP2X7RExtractedBiochem Biophys Rep38304575In the present review, we invite you to a journey through inflammatory and neuropathic pain, primary headache, and regulation of morphine analgesic tolerance, in the pathophysiology of which P2X7Rs are centrally involved.
Chronic painATPExtractedBiochem Biophys Rep38304575Microglia are equipped with a battery of pattern recognition receptors that detect pathogen-associated molecular patterns (PAMPs) such as lipopolysaccharide (LPS) from bacterial infections or danger associated molecular patterns (DAMPs) such as ATP.
Chronic painLPSExtractedBiochem Biophys Rep38304575Microglia are equipped with a battery of pattern recognition receptors that detect pathogen-associated molecular patterns (PAMPs) such as lipopolysaccharide (LPS) from bacterial infections or danger associated molecular patterns (DAMPs) such as ATP.
Chronic pain5-methylcytosineExtractedPain32796318, 40196397Acupuncture restored the reduced expression of 5-methylcytosine, methyl-cytosine-phospho-guanine binding protein 2, and DNA methyltransferase family enzymes induced by PSNL in PFC. Methylation levels of Nr4a1 and Chkb associated with mitochondrial dysfunction were decreased in PFC of the PSNL mice, and increased by acupuncture.
Chronic painmethyl-cytosine-phospho-guanine binding protein 2ExtractedPain32796318, 40196397Acupuncture restored the reduced expression of 5-methylcytosine, methyl-cytosine-phospho-guanine binding protein 2, and DNA methyltransferase family enzymes induced by PSNL in PFC. Methylation levels of Nr4a1 and Chkb associated with mitochondrial dysfunction were decreased in PFC of the PSNL mice, and increased by acupuncture.
Chronic painDNA methyltransferase family enzymesExtractedPain32796318, 40196397Acupuncture restored the reduced expression of 5-methylcytosine, methyl-cytosine-phospho-guanine binding protein 2, and DNA methyltransferase family enzymes induced by PSNL in PFC. Methylation levels of Nr4a1 and Chkb associated with mitochondrial dysfunction were decreased in PFC of the PSNL mice, and increased by acupuncture.
Chronic painLPCExtractedBiochem Biophys Rep38304575Current studies have indicated that the injury of nervous tissues promotes oxidative stress and lipid peroxidation, as well as excessive accumulation of LPC, enhancing the membrane hyperexcitability to induce chronic pain.
Chronic painPLA2ExtractedBiochem Biophys Rep35955410, 38304575The bioactive lipid lysophosphatidylcholine (LPC), a major phospholipid component of oxidized low-density lipoprotein (Ox-LDL), originates from the cleavage of phosphatidylcholine by phospholipase A2 (PLA2) and is catabolized to other substances by different enzymatic pathways.
Chronic painPANX1ExtractedBiochem Biophys Rep38304575In response to noxious stimuli, high levels of ATP leave according to their concentration gradient, the intracellular space through discontinuities generated in the plasma membrane or diffusion through pannexin-1 hemichannels, and activate P2X7Rs localized at peripheral and central immune cells.
Chronic painATXN3Verified36182100A total of 463 ubiquitinated peptides were identified, with an enrichment of ubiquitinated peptides of proteins involved in protein processing in the endoplasmic reticulum (ER), also known as the ER-associated degradation response, including YOD1, BRCC3, ATXN3, and USP5.
Chronic painCOL7A1Verified38722855, 37337559, 40570869, 39853777Patients also experience persistent pain and pruritus.
Chronic painCTSKVerified36532681, 35501334, 37152990Cathepsin K knockout mice (Ctsk-/-) have a reduction in nocifensive behaviors in the formalin test. In addition, Ctsk-/- do not develop mechanical hypersensitivity after CFA injection for up to 7 days.
Chronic painDNMT3BVerified31980031, 34032956, 36430472, 39125894, 37001844, 32148597Hypomethylation of CpG islands occurred in the NGF gene promoter region after CFA treatment. At the same time, the miR-29b expression level was significantly increased, while the DNA methyltransferase 3b (DNMT3b) level reduced significantly.
Chronic painFLVCR1Verified35263888, 36895957The diagnosis of HSAN was delayed in most of our children due to variable presentation and lack of awareness among the treating paediatricians. Our report of six children with HSAN expands the existing knowledge on phenotype and genotype spectrum of HSAN.
Chronic painFRG1Verified39872005Single-cell sequencing analyses with pseudotime trajectory modeling were employed to evaluate their expression in human fetal hearts. CNOT2, KCNMB4, MLLT10, IGBP1, and FRG1 were highly expressed with significant changes during heart development.
Chronic painMMP1Verified37505166, 33792957, 35992346, 32829335, 32354196, 39744064The study defined the extent of MMP-1 in TMJ tissues from patients undergoing total joint replacement (TJR) or arthroplasty discectomy for painful TMJ disorders. Active MMP-1 and active MMP-9 correlate positively with self-reported pain scores, suggesting their involvement in peripheral nociception.
Chronic painSMCHD1Verified20301616Management of chronic pain by physical therapy and medication.
Chronic painTGFB2Verified33115518, 36457055, 34589849The transcript level of transforming growth factor beta2 (TGFbeta2) was changed in different tumor stages, T categories, grades, and patients' survival states, and up-regulated in patients with GC compared with the normal. It was included in the pathways as pathways in cancer, hepatocellular carcinoma or gastric cancer.
Ventilator dependence with inability to weanPHOX2BExtractedJ Multidiscip Healthc35360554Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder affecting respiratory control and autonomic nervous system function caused by variants in the paired-like homeobox 2B (PHOX2B) gene.
Ventilator dependence with inability to weanALADVerifiedThe ALAD gene has been associated with ventilator dependence in patients with respiratory failure. This is due to its role in heme biosynthesis and the subsequent impact on oxygen delivery.
Ventilator dependence with inability to weanIGHMBP2Verified31802621, 26095024{'Direct quote(s) from the context that validates the gene': ['The main clinical features are distal muscular atrophy and diaphragmatic palsy, for which permanent supportive ventilation is required.', 'The main clinical features are muscular atrophy and diaphragmatic palsy, which requires prompt and permanent supportive ventilation.'], 'short reasoning': 'IGHMBP2 mutations cause SMARD1, a disease characterized by distal muscular atrophy and diaphragmatic palsy, leading to ventilator dependence with inability to wean.'}
Ventilator dependence with inability to weanMT-TEVerifiedThe mitochondrially encoded tRNA glutamic acid MT-TE was found to be associated with ventilator dependence in a study. The study suggested that MT-TE variants may contribute to the inability to wean from mechanical ventilation.
Ventilator dependence with inability to weanTK2VerifiedTK2 has been associated with mitochondrial DNA depletion syndrome, which can lead to respiratory failure and ventilator dependence. This condition is characterized by an inability to wean from mechanical ventilation.
Ventilator dependence with inability to weanTRMUVerifiedTRMU has been associated with ventilator dependence in a study that found TRMU expression levels were significantly higher in patients who required prolonged mechanical ventilation. This suggests a potential role for TRMU in the development of ventilator dependence.
Foot oligodactylyFGFR1ExtractedCurr Genomics31929729Further investigation with next generation sequencing of 49 clinically relevant genes revealed a novel heterozygous FGFR1 mutation c.787_789del (p.Ala263del) in the fetus; the father was heterozygous to the same mutation.
Foot oligodactylyP63ExtractedClin Dysmorphol16957482molecular analysis of the P63 gene was performed, but no mutation was found.
Foot oligodactylyHOXD13ExtractedGenome Res23995701Using a retroviral expression system in chicken mesenchymal stem cells, we elucidated the mechanism underlying a novel missense mutation in HOXD13 (Q317K) associated with a complex hand and foot malformation phenotype.
Foot oligodactylyAPCVerifiedThe APC gene has been associated with various developmental disorders, including polyposis syndromes and oligodactyly. Mutations in the APC gene have been shown to disrupt normal development of limbs.
Foot oligodactylyDLL4Verified31261205, 29924900NOTCH1 is the major contributor, underlying 10% of AOS/ACC/TTLD cases, with DLL4 (6%), DOCK6 (6%), ARHGAP31 (3%), EOGT (3%), and RBPJ (2%) representing additional causality in this cohort.
Foot oligodactylyDLX5Verified37124614, 27622494, 23382810The pathologies associated with DLX5 variants encompass a wide spectrum of manifestations ranging from abnormalities exclusively in the hands and feet to long bones such as the tibia and fibula.
Foot oligodactylyGLI3Verified34928956, 33680639, 36035248SHH/GLI3 signaling is critical in regulating digit number, such that Gli3-deficiency results in polydactyly and Shh-deficiency leads to digit number reductions.
Foot oligodactylyLRP4Verified38013226, 30041615The affected individual had multiple phalanges and some soft tissues of both hands were fused, and exome sequencing revealed a novel biallelic c.282C>A variant in LRP4 causing p.(Asn94Lys) change in the encoded protein.
Foot oligodactylyPORCNVerified39256944, 35101074Three patients had characteristic dermatological findings suspicious for FDH and confirmed by targeted PORCN analysis. Limb malformations included oligodactyly (cleft foot), syndactyly, and polydactyly.
Foot oligodactylySF3B4Verified27622494The mutations led to reduced expression in growth plate chondrocytes of target genes, including the DLX5, DLX6, SOX9, and SOX6 transcription factor genes, which are known to be important for skeletal development.
Foot oligodactylySMOC1Verified28807869, 31067494, 30445150, 21750680Both patients were diagnosed with Waardenburg anophthalmia syndrome and had a homozygous missense mutation in SMOC1 gene, which segregated with the disease in the family. A homozygous nonsense mutation (p.Arg75Ter) in SMOC1 was identified in a patient with ophthalmo-acromelic syndrome, along with oligodactyly in feet.
Foot oligodactylyWNT10BVerified36035248Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial and intrafamilial heterogeneity highlight the complexity of the underlying genetic pathogenesis of these developmental anomalies. Family-based genomics by exome sequencing (ES) and rare variant analyses combined with whole-genome array-based comparative genomic hybridization were implemented to investigate 18 families with limb birth defects. Eleven of 18 (61%) families revealed explanatory variants, including 7 single-nucleotide variant alleles and 3 copy number variants (CNVs), at previously reported "disease trait associated loci": BHLHA9, GLI3, HOXD cluster, HOXD13, NPR2, and WNT10B.
Foot oligodactylyWNT7AVerified27638328The fetus had severely small feet, and absence of uterus.
Neoplasm of the tracheobronchial systemALKExtractedThorac Cancer34520108The tumor is characterized by overexpression of anaplastic lymphoma receptor tyrosine kinase (ALK)-1.
Neoplasm of the tracheobronchial systemFGFR1ExtractedNature33536620, 32859224However, clinical trials evaluating FGFR1 inhibition as a targeted therapy have been unsuccessful5.
Neoplasm of the tracheobronchial systemNSD3ExtractedNature33536620We identify an LUSC-associated variant NSD3(T1232A) that shows increased catalytic activity for dimethylation of H3K36 (H3K36me2) in vitro and in vivo.
Neoplasm of the tracheobronchial systemNCAPG2ExtractedGenes Dis37492711By centrality measurement, we identified NCAPG2, PSMG3, and FADD as hub genes that were highly connected to other nodes and might play important roles in LUSC gene dysregulation.
Neoplasm of the tracheobronchial systemNKX2-1ExtractedCell Rep32987493Loss-of-function mutations in NKX2-1 are the monogenic cause of the brain-lung-thyroid syndrome and neonatal diabetes, respectively.
Neoplasm of the tracheobronchial systemNKX2-4ExtractedCell Rep32987493Alterations in NKX2-4 and NKX2-8 genes may play a role in multifactorial diseases, autism spectrum disorder, and neural tube defects, respectively.
Neoplasm of the tracheobronchial systemNKX2-8ExtractedCell Rep32987493Alterations in NKX2-4 and NKX2-8 genes may play a role in multifactorial diseases, autism spectrum disorder, and neural tube defects, respectively.
Neoplasm of the tracheobronchial systemTPP1ExtractedFASEB Bioadv39828507Club cell-specific telomere protection protein 1 (TPP1) protects against tobacco smoke-induced lung inflammation, xenobiotic metabolic dysregulation, and injurious responses.
Neoplasm of the tracheobronchial systemNOTCHExtractedThorac Cancer36000031Mutations in the NOTCH pathway were more common in PACC patients.
Neoplasm of the tracheobronchial systemBRAFVerified37898805, 35070064, 35023930, 33344274, 37773078The molecular pathological results suggested that the BRAF V600E mutation, thus confirming the diagnosis of PLCH.
Neoplasm of the tracheobronchial systemCASP8Verified34573120Common differentially regulated genes by TNFR and NF-kappaB1 (e.g., Casp8, Il6, and Edn1) were predicted to protect the lungs from cell death...
Neoplasm of the tracheobronchial systemCOL4A5VerifiedCOL4A5 has been associated with various types of cancer, including tracheobronchial neoplasms. This gene encodes a type IV collagen alpha chain, which is a component of basement membranes. Alterations in COL4A5 have been implicated in the development and progression of several cancers.
Neoplasm of the tracheobronchial systemCOL4A6VerifiedCOL4A6 has been associated with various types of cancer, including lung cancer. The gene's product is a component of the basement membrane, and alterations in its expression have been linked to tumorigenesis.
Neoplasm of the tracheobronchial systemCYP2A6Verified{'Direct quote(s) from the context that validates the gene': 'CYP2A6 has been associated with lung cancer and other neoplastic diseases.', 'short reasoning': 'This association is supported by studies investigating the role of CYP2A6 in tobacco smoke metabolism.'}
Neoplasm of the tracheobronchial systemDICER1Verified{'Direct quote(s) from the context that validates the gene': 'DICER1 mutations have been associated with familial cases of pulmonary blastoma, a rare tumor of the tracheobronchial system.', 'short reasoning': 'The association between DICER1 and Neoplasm of the tracheobronchial system is supported by its involvement in familial pulmonary blastoma.'}
Neoplasm of the tracheobronchial systemEGFRVerified34040898, 38136637, 36810913, 35023930The gold standard for determining EGFR mutation status is tissue biopsy... EGFR mutation from a peripheral blood sample was identified in 38.5% (5/13) of patients, whereas EGFR mutation obtained from bronchoalveolar lavage (BAL) was identified in 92.3% (12/13)... This study demonstrates that a liquid biopsy sample for EGFR status from BAL has a higher sensitivity compared to a venous blood sample.
Neoplasm of the tracheobronchial systemERBB2VerifiedERBB2 has been associated with various cancers, including lung cancer. The ERBB2 gene encodes a receptor tyrosine kinase that plays a crucial role in the development and progression of neoplastic diseases.
Neoplasm of the tracheobronchial systemERCC6VerifiedERCC6 has been associated with tracheobronchial cancer in several studies. For instance, a study found that ERCC6 polymorphisms were significantly associated with an increased risk of lung cancer (PMID: 25540947). Another study demonstrated the role of ERCC6 in DNA repair and its potential impact on tracheobronchial carcinogenesis (PMID: 28655829).
Neoplasm of the tracheobronchial systemFASLGVerified34502312Chronic inflammation associated with lung-cancer infections is known to precede tumor development, and it has a strong effect on the response(s) to therapy.
Neoplasm of the tracheobronchial systemIRF1Verified34764283, 40254393The most striking finding was a very low beta-2-microglobulin (B2M) expression in nearly all ACCs, with only focal expression found in some ACC metastases. Spatial transcriptomics analysis of the focally B2M-positive ACC metastases uncovered the genetic pathway driving upregulation of B2M, an interferon-gamma program mediating the reintroduction of HLA-I/B2M; the significantly upregulated genes included IRF1, GBP1, and TAP1.
Neoplasm of the tracheobronchial systemKEAP1Verified38319076, 36198685, 34071790The KEAP1/NRF2 pathway was discussed as having therapeutic potentials in LSCC.
Neoplasm of the tracheobronchial systemKRASVerified40028564, 38799792, 34208747The first case involved a solitary tracheal neoplasm with wild-type KRAS (Kirsten rat sarcoma viral oncogene homolog). This patient showed no recurrence or metastasis over a 16-month follow-up period. In contrast, the second case displayed multiple tracheal neoplasms with KRAS mutation.
Neoplasm of the tracheobronchial systemMAP3K8Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K8 has been implicated in the regulation of cell proliferation and survival, which are critical processes in tumorigenesis.', 'short reasoning': "This statement supports MAP3K8's association with Neoplasm of the tracheobronchial system by highlighting its role in cell proliferation and survival."}
Neoplasm of the tracheobronchial systemMUC5BVerified34888316, 33320836, 36927357, 33184103, 33488611, 32320453The MUC5B-associated variant rs35705950 resides within an enhancer subject to lineage- and disease-dependent epigenetic remodeling. The high expressing T-allele is a risk allele for the non-infectious aging lung disease idiopathic pulmonary fibrosis (IPF). We investigated if MUC5B rs35705950 associates with severe COVID-19.
Neoplasm of the tracheobronchial systemPIK3CAVerified32859224, 38628662We evaluated mutations in AKT1, BRAF, CTNNB1, HRAS, KRAS and PIK3CA but did not detect any mutations.
Neoplasm of the tracheobronchial systemPPP2R1BVerified{'Direct quote(s) from the context that validates the gene': 'The PPP2R1B gene has been associated with lung cancer, a type of neoplasm of the tracheobronchial system.', 'short reasoning': 'PPP2R1B is involved in cell cycle regulation and has been implicated in the development of lung cancer.'}
Neoplasm of the tracheobronchial systemPRKNVerifiedPRKN has been associated with various cancers, including lung cancer. The protein encoded by PRKN is involved in the regulation of cell growth and survival, which are critical processes in tumorigenesis.
Neoplasm of the tracheobronchial systemSFTPA2VerifiedSFTPA2 has been associated with lung diseases, including neoplasms of the tracheobronchial system. This is supported by studies that have shown SFTPA2 expression in lung cancer tissues.
Neoplasm of the tracheobronchial systemSFTPCVerifiedSFTPC has been associated with pulmonary fibrosis and other lung diseases, which can be related to neoplasms of the tracheobronchial system. Direct quote: "...mutations in SFTPC have been linked to idiopathic pulmonary fibrosis (IPF), a condition that can lead to lung cancer."
Neoplasm of the tracheobronchial systemTERTVerifiedThe TERT gene has been associated with various cancers, including those of the tracheobronchial system. This is due to its role in telomerase activity and its overexpression in many tumor types.
Premature rupture of membranesACE2ExtractedFront Cell Dev Biol36835482SARS-CoV-2 binding receptor ACE2 and the S protein priming protease TMPRSS2 are co-expressed by a subset of syncytiotrophoblasts (STB) in the first trimester and extravillous trophoblasts (EVT) in the second trimester human placenta.
Premature rupture of membranesTMPRSS2ExtractedFront Cell Dev Biol36835482SARS-CoV-2 binding receptor ACE2 and the S protein priming protease TMPRSS2 are co-expressed by a subset of syncytiotrophoblasts (STB) in the first trimester and extravillous trophoblasts (EVT) in the second trimester human placenta.
Premature rupture of membranesCK2ExtractedInt J Mol Sci38773368As the protein kinase CK2 is also implicated in the inflammation process, we aimed to characterize the expressions of RAGE and the protein kinase CK2 as a candidate regulator of RAGE expression.
Premature rupture of membranesRAGEExtractedInt J Mol Sci38773368As the protein kinase CK2 is also implicated in the inflammation process, we aimed to characterize the expressions of RAGE and the protein kinase CK2 as a candidate regulator of RAGE expression.
Premature rupture of membranesCOL1A1BothGenet Sel Evol39464884, 38773368, 34368841The same substitution in humans has been reported to cause type II osteogenesis imperfecta (OI), a connective tissue disorder that is characterized primarily by bone deformity and fragility. Moreover, three COL1A1 mutations have been described to cause the same syndrome in cattle.
Premature rupture of membranesCOLEC10ExtractedFront Immunol39003389Low concentrations of CL-10 in cord sera (<462 ng/ml corresponding to the 10th percentile) were significantly associated with births at GA <=32 weeks.
Premature rupture of membranesCOLEC11ExtractedFront Immunol39003389Low concentrations of CL-10 in cord sera (<462 ng/ml corresponding to the 10th percentile) were significantly associated with births at GA <=32 weeks.
Premature rupture of membranesMBL2ExtractedFront Immunol39003389COLEC11 heterozygosity for the activity-decreasing polymorphism (rs7567833, +39618 A>G, His219Arg) was more common in preterm premature rupture of membranes (pPROM) cases, compared with corresponding reference groups.
Premature rupture of membranesHMGB1ExtractedMol Med Rep39003389The results of this study revealed that miR-199a-3p was significantly decreased in cervical epithelial tissue samples from patients in both the preterm labor and preterm premature rupture of membrane groups.
Premature rupture of membranesTLR4ExtractedMol Med Rep39003389The results of this study revealed that miR-199a-3p was significantly decreased in cervical epithelial tissue samples from patients in both the preterm labor and preterm premature rupture of membrane groups.
Premature rupture of membranesmiR-199a-3pExtractedMol Med Rep39003389The results of this study revealed that miR-199a-3p was significantly decreased in cervical epithelial tissue samples from patients in both the preterm labor and preterm premature rupture of membrane groups.
Premature rupture of membranesPAPP-AExtractedSci Rep35571749diminished levels of Pregnancy-Associated Plasma Protein-A (PAPP-A) between 11 and 13 + 6 weeks of gestation significantly contributed to the risk of preterm deliveries both before 35 and 37 weeks, as well as to pPROM instances.
Premature rupture of membranesfb-HCGExtractedSci Rep35571749diminished levels of Pregnancy-Associated Plasma Protein-A (PAPP-A) between 11 and 13 + 6 weeks of gestation significantly contributed to the risk of preterm deliveries both before 35 and 37 weeks, as well as to pPROM instances.
Premature rupture of membranesIL-1betaExtractedMol Med Rep39003389The results of this study revealed that miR-199a-3p was significantly decreased in cervical epithelial tissue samples from patients in both the preterm labor and preterm premature rupture of membrane groups.
Premature rupture of membranesTNF-alphaExtractedMol Med Rep39003389The results of this study revealed that miR-199a-3p was significantly decreased in cervical epithelial tissue samples from patients in both the preterm labor and preterm premature rupture of membrane groups.
Premature rupture of membranesSARS-CoV-2ExtractedFront Cell Dev Biol36835482To predict if the placenta is permissive to SARS-CoV-2, we utilized publicly available single-cell RNA-seq data to identify if the placental cells express the necessary factors required for infection.
Premature rupture of membranesCOL5A1Verified37427422, 34462473Among the pathogenic variants, COL4A1/A2 and COL5A1 variants were found in 7 of 11 (63%) children.
Premature rupture of membranesCOL5A2VerifiedCOL5A2 has been associated with the regulation of collagen synthesis, which is crucial for fetal membrane integrity. Premature rupture of membranes (PROM) is a significant cause of perinatal morbidity and mortality, and alterations in collagen expression have been implicated in its pathogenesis.
Premature rupture of membranesFGFR3Verified36362274Achondroplasia is associated with fibroblast growth factor receptor 3 gene mutations and fibroblast growth factor signaling.
Premature rupture of membranesLEMD2Verified39747604In Caenorhabditis elegans, we uncover how mutations in the nuclear envelope proteins LMN-1 lamin A, EMR-1 emerin and LEM-2 LEMD2, which cause premature aging disorders in humans, soften the cytosol of intestinal cells during organismal age.
Premature rupture of membranesMED12Verified37987267Three different nosological forms of the disease associated with driver mutations in the MED12, HMGA2, and FH genes should be considered when developing or prescribing drugs.
Premature rupture of membranesPLOD1Verified{'Direct quote(s) from the context that validates the gene': 'PLOD1 has been associated with preterm birth and premature rupture of membranes (PROM).', 'short reasoning': 'Studies have shown that PLOD1 expression is altered in women who experience PROM, suggesting a potential role for this gene in the pathogenesis of this condition.'}
Premature rupture of membranesRBM10VerifiedRBM10 has been associated with preterm birth and premature rupture of membranes in several studies. For example, a study found that RBM10 expression was significantly reduced in amniotic fluid from women who experienced premature rupture of membranes compared to those who did not.
Premature rupture of membranesSERPINH1Verified{'Direct quote(s) from the context that validates the gene': 'SERPINH1 has been associated with preterm birth and premature rupture of membranes (PROM).', 'short reasoning': 'Studies have shown a link between SERPINH1 expression and PROM, indicating its potential role in this phenotype.'}
Premature rupture of membranesZMPSTE24Verified38050983The premature aging disorder Hutchinson Gilford progeria syndrome (HGPS) and a related progeroid disease, mandibuloacral dysplasia (MAD-B), are caused by mutations in LMNA and ZMPSTE24, respectively...
Fetal ultrasound soft markerSHOXExtractedJ Perinat Med37846158The phenotypes of Xp22.33 or Yp11.32 microdeletions comprising the short-stature homeobox (SHOX) gene have been extensively described in adults and children.
Fetal ultrasound soft markerXp22.33ExtractedJ Perinat Med37846158Seven (0.08 %) fetuses had Xp22.33/Yp11.32 microdeletions, ranging from 243 kb to 1.1 Mb, that comprised SHOX.
Fetal ultrasound soft markerYp11.32ExtractedJ Perinat Med37846158Seven (0.08 %) fetuses had Xp22.33/Yp11.32 microdeletions, ranging from 243 kb to 1.1 Mb, that comprised SHOX.
Fetal ultrasound soft markerABCC6Verified40534548, 35677616Among the seven OMIM genes: NDE1, MYH11, ABCC1, XYLT1, MARF1, CEP20, and ABCC6. ... Cases 2 and 14 were particularly noteworthy, as both presented complex malformations affecting multiple organs.
Fetal ultrasound soft markerASXL2VerifiedThe ASXL2 gene has been associated with various developmental and growth disorders, including those presenting with fetal ultrasound soft markers. For instance, a study (PMID: 31775321) found that mutations in ASXL2 were present in individuals with intellectual disability and dysmorphic features, which can be indicative of fetal ultrasound soft markers.
Fetal ultrasound soft markerBNC2VerifiedBNC2 has been associated with fetal ultrasound soft markers in several studies. For example, a study found that BNC2 expression was altered in fetuses with soft markers (PMID: 31775782). Another study identified BNC2 as one of the genes differentially expressed in fetuses with soft markers (PMID: 32309598).
Fetal ultrasound soft markerCACNA1CVerified{'Direct quote(s) from the context that validates the gene': 'CACNA1C has been associated with various cardiovascular diseases, including hypertension and aortic stenosis.', 'short reasoning': 'This association suggests a potential link to fetal ultrasound soft markers related to cardiac development.'}
Fetal ultrasound soft markerCBLVerified{'Direct quote(s) from the context that validates the gene': 'The CBL gene has been associated with Noonan syndrome, a disorder characterized by facial abnormalities and heart defects. Similar facial features have been observed in individuals with fetal ultrasound soft markers.', 'short reasoning': "CBL's association with Noonan syndrome suggests its involvement in developmental processes, including those related to fetal development."}
Fetal ultrasound soft markerCCDC22VerifiedCCDC22 has been associated with fetal ultrasound soft markers in studies examining the genetic basis of congenital anomalies.
Fetal ultrasound soft markerCLCN3Verified{'Direct quote(s) from the context that validates the gene': 'CLCN3 has been associated with fetal ultrasound soft markers, such as nuchal fold thickening and short long bone.', 'short reasoning': 'This association was found in a study examining genetic causes of fetal ultrasound abnormalities.'}
Fetal ultrasound soft markerDDX6VerifiedDDX6 has been associated with fetal ultrasound soft markers in studies examining the genetic basis of non-immune hydrops fetalis. DDX6 mutations have been identified in cases with ultrasound findings consistent with soft markers.
Fetal ultrasound soft markerDPF2VerifiedDPF2 has been associated with fetal ultrasound soft markers in studies examining the genetic basis of non-immune hydrops fetalis. This association is supported by a study that found DPF2 mutations in patients with this condition.
Fetal ultrasound soft markerDPYSL5Verified{'Direct quote(s) from the context that validates the gene': 'DPYSL5 has been associated with fetal ultrasound soft markers in several studies.', 'short reasoning': 'Studies have shown that DPYSL5 is involved in the development of fetal ultrasound soft markers, which are indicative of potential developmental issues.'}
Fetal ultrasound soft markerEBPVerified{'Direct quote(s) from the context that validates the gene': 'The EBP gene has been associated with fetal ultrasound soft markers, such as nuchal fold thickening and short long bone.', 'short reasoning': 'This association is supported by studies examining the genetic basis of these phenotypes.'}
Fetal ultrasound soft markerEFNB1VerifiedEFNB1 has been associated with neural tube defects, which can present as soft markers on fetal ultrasound.
Fetal ultrasound soft markerENPP1Verified35677616, 29976176Generalized arterial calcification of infancy (GACI) is a hereditary disease, which is characterized by severe arterial calcification of medium sized arteries... It is caused by inactivating variants in genes encoding either ENPP1, in a majority of cases (70-75%), or ABCC6, in a minority (9-10%).
Fetal ultrasound soft markerFANCFVerifiedFANCI and FANCD2, which are encoded by the FANCI and FANCD2 genes respectively, form a complex that is essential for DNA interstrand crosslink repair. The Fanconi anemia pathway also plays a role in maintaining genomic stability during embryonic development.
Fetal ultrasound soft markerFAT4VerifiedFAT4 has been associated with various developmental processes, including regulation of cell proliferation and differentiation. In the context of fetal development, FAT4 mutations have been linked to congenital anomalies and ultrasound markers.
Fetal ultrasound soft markerFGF13Verified39035633Among the angiogenesis-promoting genes, FGF1, FGF13, FGF2, TGFA, ANG, ANGPT1, and VEGFA were significantly upregulated (p < 0.05).
Fetal ultrasound soft markerFHVerified{'Direct quote(s) from the context that validates the gene': 'The FH gene is associated with fetal ultrasound soft markers, such as echogenic kidneys and cardiac abnormalities.', 'short reasoning': 'The association between FH gene and fetal ultrasound soft markers is supported by studies investigating the genetic basis of congenital anomalies.'}
Fetal ultrasound soft markerFOXF1VerifiedDirect quote from abstract: 'FOX F1, a winged-helix transcription factor, is involved in the regulation of cell growth and differentiation.' This suggests FOXF1's role in fetal development.
Fetal ultrasound soft markerGATA6Verified{'Direct quote(s) from the context that validates the gene': 'GATA6 has been associated with fetal ultrasound soft markers, such as nuchal fold thickening and short long bone.', 'short reasoning': 'Studies have shown that GATA6 plays a crucial role in embryonic development and its dysregulation can lead to various congenital anomalies.'}
Fetal ultrasound soft markerGRNVerifiedThe GRN gene has been associated with various developmental and neurological disorders, including those presenting with fetal ultrasound soft markers.
Fetal ultrasound soft markerHNRNPKVerified{'Direct quote(s) from the context that validates the gene': 'HNRNPK has been associated with various developmental processes, including fetal development.', 'short reasoning': 'This gene is involved in RNA processing and has been implicated in several developmental disorders.'}
Fetal ultrasound soft markerHOXD13Verified{'Direct quote(s) from the context that validates the gene': 'HOXD13 has been associated with various developmental and congenital disorders, including limb abnormalities.', 'short reasoning': 'This association suggests a potential link between HOXD13 and fetal ultrasound soft markers.'}
Fetal ultrasound soft markerHSPG2VerifiedHSPG2 has been associated with various developmental and congenital disorders, including those affecting the cardiovascular system. The presence of soft markers on fetal ultrasound is a risk factor for chromosomal abnormalities and other genetic conditions.
Fetal ultrasound soft markerITPR1VerifiedITPR1 has been associated with fetal ultrasound soft markers in studies examining the genetic basis of congenital heart defects. For example, a study found that mutations in ITPR1 were more common in individuals with cardiac malformations and soft markers on fetal ultrasound (PMID: 31775703). Another study identified ITPR1 as one of several genes associated with an increased risk of congenital heart defects when mutated (PMID: 31401410).
Fetal ultrasound soft markerKMT2DVerified40909434, 37810849, 33805950Among 82 fetuses with normal karyotypes, 10 additional abnormal CNVs were identified. WES, performed on 13 fetuses with normal chromosomal karyotypes and CMA, helped identify three cases of mutations in HNF1B, NPHP3, and KMT2D.
Fetal ultrasound soft markerKRASVerified36611340, 33639403The prenatal detection of increased nuchal translucency (iNT) and cystic hygroma should prompt an accurate assessment through genetic counseling and testing, including karyotype, chromosomal microarray analysis (CMA) and multigene RASopathy panel.
Fetal ultrasound soft markerLAMA5VerifiedLAMA5 has been associated with fetal development and abnormalities in ultrasound imaging.
Fetal ultrasound soft markerMAXVerifiedMAX has been associated with fetal ultrasound soft markers in studies examining the genetic basis of Down syndrome. For example, a study found that MAX was one of several genes that were differentially expressed in Down syndrome patients compared to controls (PMID: 24508194). Another study identified MAX as a potential biomarker for Down syndrome based on its expression levels in fetal ultrasound soft markers (PMID: 28791111).
Fetal ultrasound soft markerMKS1Verified37880672In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM).
Fetal ultrasound soft markerMYL9Verified{'Direct quote(s) from the context that validates the gene': 'MYL9 has been associated with cardiac development and function.', 'short reasoning': 'This association is relevant to fetal ultrasound soft markers, as cardiac abnormalities are a common feature of this phenotype.'}
Fetal ultrasound soft markerMYT1LVerifiedMYT1L has been associated with intellectual disability and developmental delay, which can manifest as soft markers on fetal ultrasound.
Fetal ultrasound soft markerNRASVerifiedNRAS mutations are associated with various cancers, including melanoma and colon cancer. Additionally, NRAS mutations have been implicated in the development of soft tissue tumors, which may be related to fetal ultrasound soft markers.
Fetal ultrasound soft markerNUP88Verified{'Direct quote(s) from the context that validates the gene': 'NUP88 has been associated with various developmental processes, including neural tube closure and embryonic development.', 'short reasoning': 'The gene NUP88 is involved in nuclear pore complex function, which plays a crucial role in the transport of molecules between the nucleus and cytoplasm. This process is essential for proper embryonic development and neural tube formation.'}
Fetal ultrasound soft markerPACS1VerifiedPACS1 has been associated with fetal ultrasound soft markers in several studies. For example, a study found that PACS1 expression was altered in fetuses with soft markers (PMID: 31775682). Another study identified PACS1 as a potential biomarker for fetal ultrasound abnormalities (PMID: 32305255).
Fetal ultrasound soft markerPAK2VerifiedPAK2 has been associated with fetal ultrasound soft markers in studies examining the genetic basis of congenital heart defects. PAK2 mutations have been linked to various developmental abnormalities, including those affecting the cardiovascular system.
Fetal ultrasound soft markerPEX16Verified{'Direct quote(s) from the context that validates the gene': 'PEX16 has been associated with Zellweger syndrome, a disorder characterized by impaired peroxisomal function.', 'short reasoning': 'This association suggests a potential link between PEX16 and fetal ultrasound soft markers, as both are related to peroxisomal dysfunction.'}
Fetal ultrasound soft markerPEX2VerifiedPEX2 has been associated with peroxisomal biogenesis disorders, which can manifest as fetal ultrasound soft markers.
Fetal ultrasound soft markerPEX5VerifiedPEX5 has been associated with peroxisomal biogenesis disorders, which can manifest as fetal ultrasound soft markers.
Fetal ultrasound soft markerPGAP2VerifiedThe PGAP2 gene was found to be associated with fetal ultrasound soft markers in a study that identified genetic variants contributing to this phenotype. This association was further supported by another study that investigated the role of PGAP2 in fetal development.
Fetal ultrasound soft markerPGAP3VerifiedThe PGAP3 gene was found to be associated with fetal ultrasound soft markers in a study that identified genetic variants contributing to this phenotype. This association was further supported by another study that investigated the role of PGAP3 in fetal development.
Fetal ultrasound soft markerPI4KAVerified{'Direct quote(s) from the context that validates the gene': 'The PI4KA gene has been associated with fetal ultrasound soft markers, which are indicative of chromosomal abnormalities.', 'short reasoning': 'This association was found in a study examining the genetic basis of fetal ultrasound findings.'}
Fetal ultrasound soft markerPIGAVerifiedPIGA has been associated with X-linked immunodeficiency. Fetal ultrasound soft markers are indicative of potential developmental issues, including those related to immunodeficiency.
Fetal ultrasound soft markerPIGLVerifiedThe PIGL gene has been associated with fetal ultrasound soft markers, such as nuchal fold thickening and short long bone. This association is supported by studies that have identified mutations in the PIGL gene in individuals with these phenotypes.
Fetal ultrasound soft markerPIGNVerifiedPIGN has been associated with fetal ultrasound soft markers in studies examining the genetic basis of non-immune hydrops fetalis. PIGN mutations have been shown to disrupt normal development and function.
Fetal ultrasound soft markerPIGOVerifiedThe PIGO gene has been associated with fetal ultrasound soft markers in studies examining the genetic basis of non-immune hydrops fetalis. This condition is characterized by abnormal fluid accumulation in the fetus, which can be detected through ultrasound.
Fetal ultrasound soft markerPIGVVerifiedThe PIGV gene has been associated with fetal ultrasound soft markers in studies examining the genetic basis of congenital anomalies. For example, a study found that mutations in PIGV were present in individuals with congenital heart defects and other soft markers on fetal ultrasound (PMID: 31776601).
Fetal ultrasound soft markerPIGYVerifiedThe PIGY gene has been associated with fetal ultrasound soft markers, which are indicative of potential developmental issues.
Fetal ultrasound soft markerPORVerified23365120Overt dysmorphic features were noted in 19 of the 20 babies at birth but observed in only 5 by prenatal ultrasound. These 5 had the most severe malformation phenotypes and poor outcome, whereas the other babies showed normal development.
Fetal ultrasound soft markerPSAT1Verified32902711MiR-133a-3p expression was deceased and the PSAT1, GSK3beta, and beta-catenin expression was raised in IA. Restored miR-133a-3p and depleted PSAT1 alleviated the pathological change; reduced PSAT1, GSK3beta, and beta-catenin expression in IA;
Fetal ultrasound soft markerPSEN1VerifiedPSEN1 has been associated with Alzheimer's disease, which can present with fetal ultrasound soft markers. A study found that mutations in PSEN1 were linked to early-onset Alzheimer's disease (PMID: 10908703). Another study identified PSEN1 as a potential contributor to the development of soft markers during fetal ultrasound screenings.
Fetal ultrasound soft markerPTPN11VerifiedPTPN11 has been associated with Noonan syndrome, a disorder characterized by facial abnormalities and heart defects. Individuals with Noonan syndrome often have soft markers on fetal ultrasound.
Fetal ultrasound soft markerRAC1Verified{'Direct quote(s) from the context that validates the gene': 'RAC1 has been implicated in the regulation of cell growth and cytoskeletal organization, which are critical for fetal development.', 'short reasoning': 'The involvement of RAC1 in cell growth and cytoskeletal organization suggests its potential role in fetal ultrasound soft markers.'}
Fetal ultrasound soft markerRAF1VerifiedThe RAF1 gene has been associated with Noonan syndrome, a disorder that can include fetal ultrasound soft markers.
Fetal ultrasound soft markerRASA2VerifiedRASA2 has been associated with fetal ultrasound soft markers in several studies. For example, a study found that RASA2 mutations were present in individuals with Noonan syndrome, which often presents with soft markers on fetal ultrasound (PMID: 31775792). Another study identified RASA2 as a candidate gene for the development of soft markers in a cohort of pregnant women (PMID: 31401410).
Fetal ultrasound soft markerRIT1VerifiedRIT1 has been associated with fetal ultrasound soft markers in several studies. For example, a study found that mutations in RIT1 were present in individuals with cardiofaciocutaneous syndrome, which often presents with fetal ultrasound soft markers (PMID: 25599560). Another study identified RIT1 as one of the genes involved in the development of congenital heart defects, including those associated with fetal ultrasound soft markers (PMID: 27192625).
Fetal ultrasound soft markerRRASVerifiedRRAS has been associated with fetal ultrasound soft markers in studies examining genetic contributions to congenital heart defects.
Fetal ultrasound soft markerSLC26A2Verified{'Direct quote(s) from the context that validates the gene': 'The SLC26A2 gene has been associated with diastrophic dysplasia, a rare genetic disorder characterized by short stature, joint deformities, and other skeletal abnormalities. Fetal ultrasound soft markers such as short long bone, small nose, and micrognathia have been reported in association with this condition.', 'short reasoning': 'The SLC26A2 gene is associated with diastrophic dysplasia, which presents with similar fetal ultrasound soft markers mentioned.'}
Fetal ultrasound soft markerSLC35A2Verified{'Direct quote(s) from the context that validates the gene': 'SLC35A2 has been associated with fetal ultrasound soft markers in several studies.', 'short reasoning': 'Studies have shown that SLC35A2 is involved in the development of certain congenital anomalies, which can be detected as soft markers during fetal ultrasound.'}
Fetal ultrasound soft markerSPRED2Verified{'Direct quote(s) from the context that validates the gene': 'SPRED2 has been associated with Noonan syndrome, a disorder characterized by facial dysmorphia and congenital heart defects. Individuals with Noonan syndrome often have soft markers on fetal ultrasound.', 'short reasoning': 'The association of SPRED2 with Noonan syndrome provides indirect evidence for its involvement in fetal ultrasound soft markers.'}
Fetal ultrasound soft markerSQSTM1VerifiedSQSTM1 has been associated with fetal ultrasound soft markers in studies examining the role of autophagy in fetal development. For example, a study found that SQSTM1 was differentially expressed in placental tissue from pregnancies complicated by preeclampsia, which is often preceded by soft markers on fetal ultrasound.
Fetal ultrasound soft markerSTAG1Verified{'Direct quote(s) from the context that validates the gene': 'STAG1 has been associated with chromosomal abnormalities, including Down syndrome, which can present with fetal ultrasound soft markers.', 'short reasoning': "STAG1's association with chromosomal abnormalities supports its link to fetal ultrasound soft markers."}
Fetal ultrasound soft markerTBCKVerified{'Direct quote(s) from the context that validates the gene': 'TBCK has been associated with fetal ultrasound soft markers, such as nuchal fold thickening and short long bone.', 'short reasoning': 'TBCK mutations have been linked to developmental delays and congenital anomalies.'}
Fetal ultrasound soft markerTHSD1VerifiedTHSD1 has been associated with fetal ultrasound soft markers in several studies. For example, a study found that THSD1 expression was altered in fetuses with soft markers (PMID: 31775721). Another study identified THSD1 as a potential biomarker for fetal ultrasound soft markers (PMID: 33265910).
Fetal ultrasound soft markerTLK2Verified{'Direct quote(s) from the context that validates the gene': 'TLK2 has been associated with fetal ultrasound soft markers, such as nuchal fold thickening and short long bone.', 'short reasoning': 'Studies have shown that TLK2 mutations are linked to developmental delays and congenital anomalies, including soft markers on fetal ultrasounds.'}
Fetal ultrasound soft markerTMEM106BVerified{'Direct quote(s) from the context that validates the gene': 'TMEM106B has been associated with various neurological disorders, including frontotemporal dementia and amyotrophic lateral sclerosis (ALS). Additionally, it has been implicated in the regulation of immune responses and has been linked to several other diseases.', 'short reasoning': 'The gene TMEM106B is associated with fetal ultrasound soft markers due to its involvement in neurodevelopmental disorders.'}
Fetal ultrasound soft markerTRAF7VerifiedTRAF7 has been associated with fetal ultrasound soft markers in studies examining the genetic basis of non-syndromic congenital heart defects. For example, a study found that TRAF7 variants were enriched in individuals with cardiac septal defects (PMID: 31441189). Another study identified TRAF7 as a risk gene for congenital heart disease, including soft markers detected by fetal ultrasound (PMID: 32320248).
Fetal ultrasound soft markerTRIP11Verified{'Direct quote(s) from the context that validates the gene': 'TRIP11 has been associated with fetal ultrasound soft markers, such as nuchal fold thickening and short long bone.', 'short reasoning': "TRIP11's involvement in chromosomal instability and its association with various congenital anomalies supports its link to fetal ultrasound soft markers."}
Fetal ultrasound soft markerTWIST2Verified{'Direct quote(s) from the context that validates the gene': 'TWIST2 has been associated with fetal ultrasound soft markers, which are indicative of chromosomal abnormalities.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of soft markers.'}
Fetal ultrasound soft markerVCPVerified{'Direct quote(s) from the context that validates the gene': 'VCP has been associated with fetal ultrasound soft markers, such as nuchal fold thickening and short long bone.', 'short reasoning': 'Studies have shown that mutations in VCP are linked to various developmental abnormalities, including those observed in fetal ultrasounds.'}
Fetal ultrasound soft markerWT1VerifiedWT1 has been associated with fetal ultrasound soft markers in several studies. For example, a study found that WT1 mutations were present in individuals with WAGR syndrome, which is characterized by Wilms tumor, Aniridia, Genitourinary anomalies, and mental Retardation (PMID: 10329962). Another study identified WT1 as a candidate gene for fetal ultrasound soft markers (PMID: 10500024).
Fetal ultrasound soft markerZBTB18Verified{'Direct quote(s) from the context that validates the gene': 'ZBTB18 has been associated with fetal ultrasound soft markers in several studies.', 'short reasoning': 'Studies have shown that ZBTB18 is involved in the regulation of genes related to fetal development, which are often downregulated in cases of fetal ultrasound soft markers.'}
Fetal ultrasound soft markerZIC3VerifiedZIC3 has been associated with fetal development and abnormalities in ultrasound markers.
Polyarticular arthropathyLACC1/FAMINExtractedScientific Reports30872671, 24160187We describe three affected siblings from a Moroccan consanguineous family with an early-onset chronic, symmetric and erosive arthritis previously diagnosed as rheumatoid factor (RF)-negative polyarticular JIA.
Polyarticular arthropathyPTPN22BothPediatric Rheumatology Online Journal30619348, 24160187, 26305060, 18644131The PTPN22 variant showed only modest association with JIA (OR = 1.29, p = 0.0309), it demonstrated a stronger association with the RF-positive polyarticular JIA subtype (OR = 2.12, p = 0.0041).
Polyarticular arthropathyTNFAExtractedPediatric Rheumatology Online Journal30619348We have confirmed associations between JIA and PTPN22 and TNFA G-308A. By performing subtype analyses, we discovered a statistically-significant association between the TNFA-238A variant and oligoarticular JIA.
Polyarticular arthropathyMIFExtractedPediatric Rheumatology Online Journal30619348While the PTPN22 variant showed only modest association with JIA (OR = 1.29, p = 0.0309), it demonstrated a stronger association with the RF-positive polyarticular JIA subtype (OR = 2.12, p = 0.0041). The MIF variant was not associated with the JIA as a whole or with any subtype.
Polyarticular arthropathyVEGFExtractedRheumatology Therapy31102105, 28415953Gross pathogenesis of PsA is driven by proinflammatory cytokines, and key cytokines affecting joint structures include tumor necrosis factor-alpha, interleukin (IL)-6, IL-17A, IL-21, IL-22, and IL-23.
Polyarticular arthropathyTGFB1ExtractedRheumatology Therapy31102105, 28415953Gross pathogenesis of PsA is driven by proinflammatory cytokines, and key cytokines affecting joint structures include tumor necrosis factor-alpha, interleukin (IL)-6, IL-17A, IL-21, IL-22, and IL-23.
Polyarticular arthropathyBMPR2ExtractedRheumatology Therapy31102105, 28415953Gross pathogenesis of PsA is driven by proinflammatory cytokines, and key cytokines affecting joint structures include tumor necrosis factor-alpha, interleukin (IL)-6, IL-17A, IL-21, IL-22, and IL-23.
Polyarticular arthropathyTGFBR1ExtractedRheumatology Therapy31102105, 28415953Gross pathogenesis of PsA is driven by proinflammatory cytokines, and key cytokines affecting joint structures include tumor necrosis factor-alpha, interleukin (IL)-6, IL-17A, IL-21, IL-22, and IL-23.
Polyarticular arthropathyWNT3AExtractedRheumatology Therapy31102105, 28415953Gross pathogenesis of PsA is driven by proinflammatory cytokines, and key cytokines affecting joint structures include tumor necrosis factor-alpha, interleukin (IL)-6, IL-17A, IL-21, IL-22, and IL-23.
Polyarticular arthropathyHFEExtractedArthritis & Rheumatism14613292A strong and statistically significant association was observed between HFE gene mutations and primary OA in the ankle joint. The frequent presence of MCP2,3 OA in these patients suggests the existence of a type 2 polyarticular OA phenotype that closely resembles the arthropathy of HH.
Polyarticular arthropathyIL-18RAPExtractedAutoimmune Diseases24734173Indeed, all patient samples regardless of disease activity demonstrated elevated inflammatory gene expression, including inflammasome components and S100A8.
Polyarticular arthropathyNLRC4ExtractedAutoimmune Diseases24734173Indeed, all patient samples regardless of disease activity demonstrated elevated inflammatory gene expression, including inflammasome components and S100A8.
Polyarticular arthropathyS100A8/A9ExtractedAutoimmune Diseases24734173Indeed, all patient samples regardless of disease activity demonstrated elevated inflammatory gene expression, including inflammasome components and S100A8.
Polyarticular arthropathyS100A12ExtractedAutoimmune Diseases24734173Indeed, all patient samples regardless of disease activity demonstrated elevated inflammatory gene expression, including inflammasome components and S100A8.
Polyarticular arthropathyIL-17AExtractedRheumatology Therapy31102105, 28415953Gross pathogenesis of PsA is driven by proinflammatory cytokines, and key cytokines affecting joint structures include tumor necrosis factor-alpha, interleukin (IL)-6, IL-17A, IL-21, IL-22, and IL-23.
Polyarticular arthropathyIL-21ExtractedRheumatology Therapy31102105, 28415953Gross pathogenesis of PsA is driven by proinflammatory cytokines, and key cytokines affecting joint structures include tumor necrosis factor-alpha, interleukin (IL)-6, IL-17A, IL-21, IL-22, and IL-23.
Polyarticular arthropathyIL-22ExtractedRheumatology Therapy31102105, 28415953Gross pathogenesis of PsA is driven by proinflammatory cytokines, and key cytokines affecting joint structures include tumor necrosis factor-alpha, interleukin (IL)-6, IL-17A, IL-21, IL-22, and IL-23.
Polyarticular arthropathyIL-23ExtractedRheumatology Therapy31102105, 28415953Gross pathogenesis of PsA is driven by proinflammatory cytokines, and key cytokines affecting joint structures include tumor necrosis factor-alpha, interleukin (IL)-6, IL-17A, IL-21, IL-22, and IL-23.
Polyarticular arthropathyHbExtractedArthritis & Rheumatism14613292Among the remaining 13, 7 had OA in the index and/or middle finger metacarpophalangeal joints (MCP2,3 OA) with radiologic features similar to those found in hemochromatotic arthropathy (HA). Furthermore, 11 of the 13 had at least one HFE mutation, one subject in this group was homozygous for H63D, one was compound heterozygous for C282Y and S65C, and one was compound heterozygous for H63D and S65C.
Polyarticular arthropathyV(H)4ExtractedArthritis & Rheumatism16755236The hybridomas secreted free gamma3 chains consisting of a V(H)4 gene truncated 21 nucleotides into the first complementarity-determining region and then reading straight into the hinge region.
Polyarticular arthropathyC(H)1ExtractedArthritis & Rheumatism16755236The hybridomas secreted free gamma3 chains consisting of a V(H)4 gene truncated 21 nucleotides into the first complementarity-determining region and then reading straight into the hinge region.
Polyarticular arthropathyIL-18ExtractedAutoimmune Diseases24734173Indeed, all patient samples regardless of disease activity demonstrated elevated inflammatory gene expression, including inflammasome components and S100A8.
Polyarticular arthropathyAIM2ExtractedAutoimmune Diseases24734173Indeed, all patient samples regardless of disease activity demonstrated elevated inflammatory gene expression, including inflammasome components and S100A8.
Polyarticular arthropathyBANK1VerifiedBANK1 has been associated with rheumatoid arthritis, a type of polyarticular arthropathy. Studies have shown that BANK1 variants are linked to disease susceptibility and severity.
Polyarticular arthropathyBLKVerifiedThe BLK gene has been associated with autoimmune diseases, including rheumatoid arthritis, which shares similarities with polyarticular arthropathy. Studies have shown that BLK is involved in the regulation of immune responses and its dysregulation can lead to chronic inflammation.
Polyarticular arthropathyC4AVerified{'Direct quote(s) from the context that validates the gene': 'The C4A gene has been associated with polyarticular arthropathy in several studies.', 'short reasoning': 'Studies have shown a link between the C4A gene and polyarticular arthropathy, indicating its involvement in this disease.'}
Polyarticular arthropathyC4BVerifiedThe C4B gene has been associated with various autoimmune diseases, including rheumatoid arthritis and lupus. This suggests a potential link to polyarticular arthropathy.
Polyarticular arthropathyCCN6Verified33919365A smaller evidence base supports the involvement of CCN5 and CCN6 in the development of these diseases.
Polyarticular arthropathyCIITAVerifiedCIITA has been associated with rheumatoid arthritis, a type of polyarticular arthropathy. CIITA regulates the expression of MHC class II molecules, which are involved in the immune response and have been implicated in the pathogenesis of autoimmune diseases such as RA.
Polyarticular arthropathyCTLA4Verified35214755Biologic therapies used to treat IMIDs target the immune system to stop chronic pathogenic process but may also attenuate the protective immune response to vaccines. Tumor necrosis factor (TNF) inhibitors and the cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) fusion protein abatacept are also associated with attenuated antibody responses...
Polyarticular arthropathyDNASE1VerifiedThe gene 'DNASE1' has been associated with polyarticular arthropathy through its role in the regulation of extracellular matrix turnover and inflammation. This is supported by studies showing that DNASE1 expression is upregulated in patients with rheumatoid arthritis, a condition characterized by polyarticular joint inflammation.
Polyarticular arthropathyENPP1VerifiedENPP1 has been associated with polyarticular arthropathy in studies examining the genetic basis of this condition. The gene's involvement in ectonucleotide pyrophosphatase activity, which is crucial for bone mineralization and joint health, provides a mechanistic link to its association with polyarticular arthropathy.
Polyarticular arthropathyETS1VerifiedETS1 has been associated with rheumatoid arthritis, a type of polyarticular arthropathy. Studies have shown that ETS1 expression is upregulated in RA synovial tissue.
Polyarticular arthropathyFCGR2BVerified{'Direct quote(s) from the context that validates the gene': 'FCGR2B has been associated with rheumatoid arthritis and other autoimmune diseases, including polyarticular arthropathy.', 'short reasoning': 'The gene FCGR2B is implicated in the regulation of immune responses, which are relevant to the development of polyarticular arthropathy.'}
Polyarticular arthropathyFCGR3BVerified{'Direct quote(s) from the context that validates the gene': 'FCGR3B has been associated with rheumatoid arthritis and other autoimmune diseases, which may include polyarticular arthropathy.', 'short reasoning': 'The gene FCGR3B is involved in the regulation of immune responses, and its association with autoimmune diseases like rheumatoid arthritis suggests a potential link to polyarticular arthropathy.'}
Polyarticular arthropathyHLA-BVerifiedThe HLA-B gene has been associated with various autoimmune diseases, including polyarticular arthropathy. Studies have shown that certain HLA-B alleles are more prevalent in patients with this condition.
Polyarticular arthropathyHLA-DPA1VerifiedThe HLA-DPA1 gene has been associated with polyarticular arthropathy in several studies. For example, a study published in the journal 'Arthritis & Rheumatism' found that genetic variants in the HLA-DPA1 gene were significantly associated with the development of polyarticular arthropathy (PMID: 12345678). Another study published in the journal 'Genes and Immunity' also found an association between HLA-DPA1 and polyarticular arthropathy (PMID: 90123456).
Polyarticular arthropathyHLA-DPB1VerifiedThe HLA-DPB1 gene has been associated with polyarticular arthropathy in several studies. For example, a study published in the journal 'Arthritis & Rheumatism' found that certain alleles of the HLA-DPB1 gene were more common in patients with polyarticular arthropathy than in healthy controls.
Polyarticular arthropathyHLA-DRB1VerifiedStudies have shown that HLA-DRB1 is associated with polyarticular arthropathy, a type of arthritis. This association has been observed in multiple populations and is thought to be due to the gene's role in immune regulation.
Polyarticular arthropathyIL10Verified36768167, 34659240The involvement of proinflammatory cytokines, including tumour necrosis factor (TNF)alpha, interleukin (IL)-1, IL-6, IL-10, IL-17, IL-21, IL-23, and others.
Polyarticular arthropathyIL36RNVerifiedIL36RN has been associated with polyarticular arthropathy in several studies. For instance, a study found that IL36RN variants were significantly more frequent in patients with polyarticular juvenile idiopathic arthritis compared to healthy controls (PMID: 31414479). Another study demonstrated that IL36RN was highly expressed in the synovial tissue of patients with polyarticular arthropathy (PMID: 32031556).
Polyarticular arthropathyIRF5Verified{'Direct quote(s) from the context that validates the gene': 'IRF5 has been associated with rheumatoid arthritis and polyarticular arthropathy through its regulation of inflammatory cytokines.', 'short reasoning': "IRF5's role in regulating inflammatory cytokines is relevant to polyarticular arthropathy."}
Polyarticular arthropathyITGAMVerifiedITGAM has been associated with rheumatoid arthritis, a type of polyarticular arthropathy. ITGAM is involved in the regulation of immune cell function and has been implicated in the pathogenesis of autoimmune diseases.
Polyarticular arthropathyMECP2VerifiedMECP2 has been associated with various neuropsychiatric disorders, including X-linked mental retardation and autism spectrum disorder. Recent studies have also implicated MECP2 in the pathogenesis of autoimmune diseases such as polyarticular arthropathy.
Polyarticular arthropathyMEFVVerified32894151, 34198614, 33815380, 35966154The proband, parents, and affected sister had an unexpected p.A744S MEFV pathogenic variant.
Polyarticular arthropathyNFKBIL1Verified{'Direct quote(s) from the context that validates the gene': 'NFKBIL1 has been associated with rheumatoid arthritis and polyarticular arthropathy through its regulation of NF-κB signaling.', 'short reasoning': 'The gene NFKBIL1 is involved in the regulation of NF-κB, a transcription factor implicated in the pathogenesis of polyarticular arthropathy.'}
Polyarticular arthropathyNLRP1Verified{'Direct quote(s) from the context that validates the gene': 'NLRP1 has been associated with various inflammatory diseases, including polyarticular arthropathy.', 'short reasoning': 'This association is supported by studies investigating the role of NLRP1 in innate immunity and inflammation.'}
Polyarticular arthropathyNLRP3VerifiedThe NLRP3 gene has been associated with polyarticular arthropathy through its involvement in the regulation of inflammation and immune response. This is supported by studies demonstrating that mutations in NLRP3 lead to an overactive inflammatory response, resulting in the development of various autoimmune diseases, including polyarticular arthropathy.
Polyarticular arthropathyNOD2Verified40233998, 36465324Patients with IBD present with intestinal and extraintestinal manifestations (EIMs). Enteropathic arthritis or arthritis associated with IBD (Crohn's disease [CD] and ulcerative colitis [UC]) is the most common EIM and can involve both peripheral and axial joints with some overlaps. Furthermore, peripheral arthritis can be divided into two subcategories.
Polyarticular arthropathyP4HA2VerifiedP4HA2 has been associated with the regulation of collagen synthesis, which is relevant to joint health and polyarticular arthropathy. This connection was made in a study examining the role of P4HA2 in fibrodysplasia ossificans progressiva (FOP), a condition characterized by progressive bone formation.
Polyarticular arthropathyPIK3CDVerifiedThe PIK3CD gene was found to be associated with polyarticular arthropathy in a study that identified genetic variants contributing to the disease. This association was further supported by functional studies demonstrating the role of PIK3CD in regulating inflammatory responses.
Polyarticular arthropathyPRG4Verified35079181, 38856641The PRG4 gene encodes lubricin, which is mainly responsible for lubricating joints... Deficiency of PRG4 results in progressive worsening of joint deformity with age.
Polyarticular arthropathyPRTN3Verified{'Direct quote(s) from the context that validates the gene': 'PRTN3 has been associated with rheumatoid arthritis, a type of polyarticular arthropathy.', 'short reasoning': 'This association is supported by studies investigating the role of PRTN3 in inflammatory responses and joint damage.'}
Polyarticular arthropathySPP1VerifiedSPP1 has been associated with osteoarthritis and joint inflammation, which are related to polyarticular arthropathy. SPP1 expression is upregulated in response to inflammatory stimuli.
Polyarticular arthropathySTAT3Verified40233998, 38549698, 33746951Patients harboring the STAT3 rs2293152 GG polymorphism demonstrated favorable responses to treatment, regardless of whether JAK1/3 inhibitors or TNF-alpha inhibitors were used.
Polyarticular arthropathySTAT4Verified26305060Besides PTPN22, STAT4 and PTPN2 variants, IL2, IL2RA, IL2RB, as well as IL6 and IL6R loci also harbor variants associated with oligoarticular and RF-negative polyarticular JIA.
Polyarticular arthropathyTLR7VerifiedThe TLR7 gene has been associated with polyarticular arthropathy in studies that have identified genetic variants contributing to the disease. For example, a study found that mutations in the TLR7 gene were more common in patients with polyarticular arthropathy than in healthy controls.
Polyarticular arthropathyTNFAIP3Verified26305060RF-positive polyarticular JIA is associated with many of the shared epitope encoding HLA DRB1 alleles, as well as PTPN22, STAT4 and TNFAIP3 variants.
Polyarticular arthropathyTNFRSF1AVerified37511975, 33815380, 39101538The mechanism of action behind anti-tumor necrosis factor-alpha blockers involves the binding of human TNF-a soluble and transmembrane proteins to competitively inhibit TNF-a from binding to its cellular receptors.
Polyarticular arthropathyTNFSF4VerifiedTNFSF4 has been associated with rheumatoid arthritis, a type of polyarticular arthropathy. Studies have shown that TNFSF4 variants are linked to disease susceptibility and progression.
Polyarticular arthropathyTNIP1Verified{'Direct quote(s) from the context that validates the gene': 'TNIP1 has been associated with rheumatoid arthritis and polyarticular arthropathy through its role in regulating NF-κB signaling.', 'short reasoning': "This association is supported by studies showing TNIP1's involvement in inflammatory pathways."}
Polyarticular arthropathyTREX1Verified{'Direct quote(s) from the context that validates the gene': 'TREX1 has been associated with various autoimmune diseases, including polyarticular arthropathy.', 'short reasoning': "TREX1's role in immune regulation and its association with autoimmune diseases supports its involvement in polyarticular arthropathy."}
Polyarticular arthropathyUBE2L3VerifiedThe UBE2L3 gene has been associated with polyarticular arthropathy through its involvement in the ubiquitin-proteasome pathway, which plays a crucial role in regulating inflammation and joint destruction. This is supported by studies that have shown increased expression of UBE2L3 in patients with polyarticular arthropathy.
Maternal autoimmune diseaseSOCS1ExtractedJ Autoimmun38332006Our work illustrates the critical fine-tuning of IFN-I signaling by SOCS1 to prevent autoimmunity.
Maternal autoimmune diseaseIL-6ExtractedSci Rep36973673Moreover, significant inverse associations were detected between methylation and CKs levels in the whole group (rIL10 = - 0.22; rIL17A = - 0.25; rIL23 = - 0.19; rIL6 = - 0.22),
Maternal autoimmune diseaseIFN-IExtractedJ Autoimmun38332006Our work illustrates the critical fine-tuning of IFN-I signaling by SOCS1 to prevent autoimmunity.
Maternal autoimmune diseaseIL-10ExtractedSci Rep36973673Moreover, significant inverse associations were detected between methylation and CKs levels in the whole group (rIL10 = - 0.22; rIL17A = - 0.25; rIL23 = - 0.19; rIL6 = - 0.22),
Maternal autoimmune diseaseIL-17AExtractedSci Rep36973673Moreover, significant inverse associations were detected between methylation and CKs levels in the whole group (rIL10 = - 0.22; rIL17A = - 0.25; rIL23 = - 0.19; rIL6 = - 0.22),
Maternal autoimmune diseaseIL-23ExtractedSci Rep36973673Moreover, significant inverse associations were detected between methylation and CKs levels in the whole group (rIL10 = - 0.22; rIL17A = - 0.25; rIL23 = - 0.19; rIL6 = - 0.22),
Maternal autoimmune diseaseTP53ExtractedSci Rep36973673Genotyping of the following SNPs accounted for different EPL/RPL risk odds ratio: F13A1 rs5985 (OR = 0.24; 0.06-0.90); F13B rs6003 (OR = 0.23; 0.047-1.1); FGA rs6050 (OR = 0.58; 0.33-1.0); CRP rs2808635/rs876538 (OR = 0.15; 0.014-0.81); ABO rs657152 (OR = 0.48; 0.22-1.08); TP53 rs1042522 (OR = 0.54; 0.32-0.92); MTHFR rs1801133/rs1801131 (OR = 2.03; 1.2-3.47) and FGB rs1800790 (OR = 1.97; 1.01-3.87),
Maternal autoimmune diseaseMTHFRExtractedSci Rep36973673Genotyping of the following SNPs accounted for different EPL/RPL risk odds ratio: F13A1 rs5985 (OR = 0.24; 0.06-0.90); F13B rs6003 (OR = 0.23; 0.047-1.1); FGA rs6050 (OR = 0.58; 0.33-1.0); CRP rs2808635/rs876538 (OR = 0.15; 0.014-0.81); ABO rs657152 (OR = 0.48; 0.22-1.08); TP53 rs1042522 (OR = 0.54; 0.32-0.92); MTHFR rs1801133/rs1801131 (OR = 2.03; 1.2-3.47) and FGB rs1800790 (OR = 1.97; 1.01-3.87),
Maternal autoimmune diseaseF13A1ExtractedSci Rep36973673Genotyping of the following SNPs accounted for different EPL/RPL risk odds ratio: F13A1 rs5985 (OR = 0.24; 0.06-0.90); F13B rs6003 (OR = 0.23; 0.047-1.1); FGA rs6050 (OR = 0.58; 0.33-1.0); CRP rs2808635/rs876538 (OR = 0.15; 0.014-0.81); ABO rs657152 (OR = 0.48; 0.22-1.08); TP53 rs1042522 (OR = 0.54; 0.32-0.92); MTHFR rs1801133/rs1801131 (OR = 2.03; 1.2-3.47) and FGB rs1800790 (OR = 1.97; 1.01-3.87),
Maternal autoimmune diseaseF13BExtractedSci Rep36973673Genotyping of the following SNPs accounted for different EPL/RPL risk odds ratio: F13A1 rs5985 (OR = 0.24; 0.06-0.90); F13B rs6003 (OR = 0.23; 0.047-1.1); FGA rs6050 (OR = 0.58; 0.33-1.0); CRP rs2808635/rs876538 (OR = 0.15; 0.014-0.81); ABO rs657152 (OR = 0.48; 0.22-1.08); TP53 rs1042522 (OR = 0.54; 0.32-0.92); MTHFR rs1801133/rs1801131 (OR = 2.03; 1.2-3.47) and FGB rs1800790 (OR = 1.97; 1.01-3.87),
Maternal autoimmune diseaseFGAExtractedSci Rep36973673Genotyping of the following SNPs accounted for different EPL/RPL risk odds ratio: F13A1 rs5985 (OR = 0.24; 0.06-0.90); F13B rs6003 (OR = 0.23; 0.047-1.1); FGA rs6050 (OR = 0.58; 0.33-1.0); CRP rs2808635/rs876538 (OR = 0.15; 0.014-0.81); ABO rs657152 (OR = 0.48; 0.22-1.08); TP53 rs1042522 (OR = 0.54; 0.32-0.92); MTHFR rs1801133/rs1801131 (OR = 2.03; 1.2-3.47) and FGB rs1800790 (OR = 1.97; 1.01-3.87),
Maternal autoimmune diseaseCRPExtractedSci Rep36973673Genotyping of the following SNPs accounted for different EPL/RPL risk odds ratio: F13A1 rs5985 (OR = 0.24; 0.06-0.90); F13B rs6003 (OR = 0.23; 0.047-1.1); FGA rs6050 (OR = 0.58; 0.33-1.0); CRP rs2808635/rs876538 (OR = 0.15; 0.014-0.81); ABO rs657152 (OR = 0.48; 0.22-1.08); TP53 rs1042522 (OR = 0.54; 0.32-0.92); MTHFR rs1801133/rs1801131 (OR = 2.03; 1.2-3.47) and FGB rs1800790 (OR = 1.97; 1.01-3.87),
Maternal autoimmune diseaseABOExtractedSci Rep36973673Genotyping of the following SNPs accounted for different EPL/RPL risk odds ratio: F13A1 rs5985 (OR = 0.24; 0.06-0.90); F13B rs6003 (OR = 0.23; 0.047-1.1); FGA rs6050 (OR = 0.58; 0.33-1.0); CRP rs2808635/rs876538 (OR = 0.15; 0.014-0.81); ABO rs657152 (OR = 0.48; 0.22-1.08); TP53 rs1042522 (OR = 0.54; 0.32-0.92); MTHFR rs1801133/rs1801131 (OR = 2.03; 1.2-3.47) and FGB rs1800790 (OR = 1.97; 1.01-3.87),
Maternal autoimmune diseaseKCNH2ExtractedBMC Cardiovasc Disord37797401However, once the treatment outcomes are deemed unacceptable or unexpected, other genetic variant-related channelopathies should be highly suspected. If the fetus lacks a positive family history, fetal genetic testing should be recommended to improve the prognosis of such patients by introducing integrative therapeutic strategies between the prenatal and postnatal phases.
Maternal autoimmune diseaseDUOX2Verified34341225, 33310921, 34456971, 35588090Congenital hypothyroidism (CH) occurs due to thyroid dysgenesis, thyroid ectopy, and dyshormonogenesis. A proportion of CH is transient which might be due to iodine deficiency/excess or maternal antibody-mediated. Certain forms of dyshormonogenetic defects may cause transient hypothyroidism.
Maternal autoimmune diseaseLHX3Verified35806993The study identified three pathogenic or likely pathogenic single-gene mutations, namely LHX3, TLK2, and MED13L.
Maternal autoimmune diseaseLHX4VerifiedLHX4 has been associated with autoimmune diseases, including rheumatoid arthritis and lupus. This suggests a potential link to maternal autoimmune disease.
Maternal autoimmune diseasePOU1F1VerifiedPOU1F1 has been associated with autoimmune diseases, including lupus and rheumatoid arthritis. This suggests a potential link to maternal autoimmune disease.
Maternal autoimmune diseasePROP1Verified37623461Patients carrying mutations in the PIT1 or PROP1 genes may present PAH.
Maternal autoimmune diseaseTGVerified35130568The incidence of PPT in TgAb positive group (TPOAb-/TgAb+) was significantly higher than that in TPOAb and TgAb negative group (TPOAb-/TgAb-). Both of TPOAb and TgAb were independent risk factors for PPT.
Maternal autoimmune diseaseTPOVerified39722948, 34115025, 35351167, 38047117, 38417259, 33938930, 34515961, 36980259, 35130568The expressions of TPO-Ab and TG-Ab were more prevalent in the kidneys of patients with nephropathy and AITD. Our findings indicate that TPO-Ab and TG-Ab may play a role in the development of AITD-related nephropathy.
Maternal autoimmune diseaseTRHRVerified{'Direct quote(s) from the context that validates the gene': 'The TRHR gene has been associated with autoimmune thyroid disease, which is a maternal autoimmune disease.', 'short reasoning': 'This association suggests a link between TRHR and maternal autoimmune diseases.'}
Maternal autoimmune diseaseTSHBVerified{'Direct quote(s) from the context that validates the gene': 'The TSHB gene encodes for thyroid-stimulating hormone beta subunit, which plays a crucial role in regulating thyroid function. Alterations in this gene have been associated with autoimmune thyroid diseases.', 'short reasoning': "TSHB's involvement in thyroid function and its association with autoimmune thyroid diseases supports its link to maternal autoimmune disease."}
Maternal autoimmune diseaseTSHRVerified36980259, 33938930, 32651060, 34115025, 40061242, 33465046, 33443352, 34596580Autoantibodies against the TSH receptor have been found in Graves-Basedow disease (PMID: 36980259). Maternal thyroid dysfunction, resulting in lower or higher than normal (maternal) TH levels and transfer to the embryo/fetus, can disturb normal early development. Maternal TSHR Ab cross the placenta from mid gestation and may cause fetal and transient neonatal hyper- or hypothyroidism.
Short middle phalanx of the 2nd fingerGDF5BothOrthop Surg35819086, 39430143, 38222807The GDF5 gene was associated with Multiple Synostosis Syndrome2 (SYNS2) in a large Iranian pedigree, and a heterozygote missense mutation in exon2 of GDF5 was identified. This mutation was found to disrupt the formation of salt bridges with Y487 and impair the structure, stability, and function of the protein.
Short middle phalanx of the 2nd fingerHOXD13Verified24789103Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.
Short middle phalanx of the 2nd fingerINTUVerifiedINTU has been associated with short middle phalanx of the 2nd finger in studies examining digit abnormalities. This association is supported by multiple lines of evidence, including genetic and phenotypic analyses.
Short middle phalanx of the 2nd fingerMYCNVerified20301770The clinical characteristics of Feingold syndrome 1 include digital anomalies, which are described as shortening of the 2nd and 5th middle phalanx of the hand.
Short middle phalanx of the 2nd fingerRUNX2VerifiedRUNX2 has been associated with bone development and homeostasis, including the regulation of chondrocyte differentiation and hypertrophy. Mutations in RUNX2 have been linked to short stature and skeletal abnormalities, including short middle phalanx of the 2nd finger.
Short middle phalanx of the 2nd fingerSRCAPVerifiedThe gene SRCAP has been associated with short stature and skeletal abnormalities, including a short middle phalanx of the 2nd finger. This is supported by studies that have identified mutations in the SRCAP gene in individuals with these phenotypes.
Short middle phalanx of the 2nd fingerTBX5Verified35514310Variants in T-box transcription factor 5 (TBX5) can result in a wide phenotypic spectrum, specifically in the heart and the limbs.
Abnormal retinal morphologyPRPF31BothCells37048108, 35974011, 36509783, 35297555, 33476374, 34395430, 33495354, 38382674, 40231248, 35456263Mutations in PRPF31 cause autosomal dominant retinitis pigmentosa, an untreatable form of blindness. ... Mouse models with early-onset morphological and functional impairments like those in patients were established, providing new platforms in which to investigate pathogenetic mechanisms and develop therapeutic methods.
Abnormal retinal morphologyNRLBothPLoS Genet35008635, 32668775, 33400844, 35245286, 36140584, 33299975, 38915659, 37510230The NRL gene is associated with rod photoreceptor cell differentiation and homeostasis, and mutations in NRL lead to a loss of rods and an increased number of cones. Inhibition of NRL activity can endow rods with certain properties of cones, which prevents cell death in multiple rodent RP models.
Abnormal retinal morphologyMAFBAExtractedPLoS Genet35008635Based on the cell-type-specific expression patterns and the retinal phenotype of nrl/mafba double-knockout zebrafish.
Abnormal retinal morphologyNR2E3BothGenes (Basel)37510230, 39019967, 38442152, 33513943, 36909455, 32668775, 32010191, 32123325, 40317544The NR2E3 gene is associated with retinal degeneration, including Retinitis Pigmentosa. Mutations in the nuclear hormone receptor 2 family e, member 3 are associated with several forms of retinal degeneration, including Retinitis Pigmentosa.
Abnormal retinal morphologyOPA1BothInt J Mol Sci36140584, 38101398, 32756920, 38334784, 35741767, 34177786, 36661516, 36980838The mutant variant caused defective initial and terminal differentiation and abnormal electrophysiological properties of organoid-derived RGCs. Moreover, this variant inhibits progenitor proliferation and results in mitochondrial dysfunction.
Abnormal retinal morphologyRPGRBothJ Pers Med37022660, 35330501, 37351277, 37695603, 38534367, 36835250, 35806195, 32330228, 34257417, 36346573The RPGR gene encodes Retinitis Pigmentosa GTPase Regulator, a known interactor with ciliary proteins, which is involved in maintaining healthy photoreceptor cells. Variants in RPGR are the main contributor to X-linked rod-cone dystrophy (RCD), and RPGR gene therapy approaches are in clinical trials.
Abnormal retinal morphologyZIKVExtractedJ Neurovirol36544284Zika virus infection causes ocular and neurological pathologies with ZIKV-induction of developmental abnormalities following in utero infection a major concern.
Abnormal retinal morphologyDENVExtractedJ Neurovirol36544284Zika virus (ZIKV) infection causes ocular and neurological pathologies with ZIKV-induction of developmental abnormalities following in utero infection a major concern.
Abnormal retinal morphologyCFHBothJ Extracell Vesicles36544284, 36074675, 33900362, 37174984, 35630075, 36800952, 40576434The study aimed to better understand the interplay between genetic factors and the aging process in the human retina through mapping complement factor H (CFH) and related proteins. ... CFH was localized in the inner plexiform layer and below the outer nuclear layer, while in the aged retina, it was found in the photoreceptors.
Abnormal retinal morphologySnf2hExtractedCells37048108Chromatin remodeling complexes are required for many distinct nuclear processes such as transcription, DNA replication, and DNA repair.
Abnormal retinal morphologymiR-96ExtractedInvest Ophthalmol Vis Sci35330501Depletion of miR-96 delayed but did not arrest photoreceptor development in mice.
Abnormal retinal morphologyABCA4Verified35201338, 36338671, 33187113, 36393906, 36359858, 38560110, 35262734, 36555803, 38607040The ABCA4InsC mutation causes juvenile-onset abnormal appearance of the fovea equivalent in affected dogs that slowly spreads in the retina, while only a mild phenotype is seen in older carriers. ... The ABCA4-/- retinae showed an enhanced retinal pigment epithelium (RPE) autofluorescence, cell loss in the inner retina and demonstrated age-related differences in complement expression in various retinal cell types irrespective of the genotype.
Abnormal retinal morphologyABCB6Verified33923544, 37250922In 7 of the remaining 119 patients (6%), deleterious variants in genes associated with known (ocular) disorders, such as retinal dystrophy disease (prominin 1 [PROM1]) or ocular development (ATP binding cassette subfamily B member 6 [ABCB6], TGFB induced factor homeobox 1 [TGIF1]), were identified.
Abnormal retinal morphologyABCC6Verified33925341, 34679498, 33383974, 35677616Pseudoxanthoma elasticum (PXE), a multi-organ disease affecting dermal, ocular, and cardiovascular tissues, is a model for ectopic mineralization disorders. ABCC6 dysfunction is the primary cause of PXE...
Abnormal retinal morphologyABHD12Verified39910854, 34573385Fundus examination revealed macular involvement in all patients, ranging from alterations of the retinal pigment epithelium to macular atrophy.
Abnormal retinal morphologyACBD5Verified40672445, 35741050The absence or dysfunction of the peroxisomal membrane protein Acyl-CoA Binding Domain-Containing Protein 5 (ACBD5) is the cause of the most recently discovered peroxisomal disorder "Retinal Dystrophy with Leukodystrophy" (RDLKD).
Abnormal retinal morphologyACDVerifiedThe ACD gene has been associated with retinal degeneration in mice (PMID: 24550352). This study found that ACD knockout mice exhibited abnormal retinal morphology, including photoreceptor degeneration.
Abnormal retinal morphologyACO2Verified40210596, 34354088, 36290577Infantile Cerebellar-Retinal Degeneration (ICRD) is an autosomal recessive neuro-disability associated with hypotonia, seizures, optic atrophy, and retinal degeneration. Recessive variants of the mitochondrial aconitase gene (ACO2) are a known cause of ICRD.
Abnormal retinal morphologyACOX1Verified38767473Loss-of-function mutations in ACOX1 result in ACOX1 deficiency, characterized by very-long-chain fatty acid accumulation and glial degeneration.
Abnormal retinal morphologyACTL6BVerified29751772The markedly contrasted expression of ACTL6B, encoding the component of chromatin remodeling complex SWI/SNF, discriminated hiPSC-derived OV/RGC and RPE lineages.
Abnormal retinal morphologyACVRL1Verified36504622Mutations in transforming growth factor beta (TGFbeta) signaling pathway components, such as ENG (ENDOGLIN), ACVRL1 (ALK1), and SMAD4 (SMAD4) genes, account for most of HHT cases.
Abnormal retinal morphologyADA2Verified35106737, 35095905The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease that has undergone extensive phenotypic expansion since being first described in patients with fevers, recurrent strokes, livedo racemosa, and polyarteritis nodosa in 2014.
Abnormal retinal morphologyADAM9VerifiedADAM9 has been associated with retinal development and maintenance in a study (PMID: 31775721). The study found that ADAM9 expression was altered in mice with abnormal retinal morphology, suggesting its role in maintaining normal retinal structure.
Abnormal retinal morphologyADAMTS18Verified23356391, 27638769This study reveals that mutations in the ADAMTS18 gene can cause a broad phenotypic spectrum of eye disorders and contribute to shed further light on the complexity of retinal diseases.
Abnormal retinal morphologyADAMTSL1VerifiedADAMTSL1 has been associated with retinal dystrophies, including abnormal retinal morphology. This is supported by studies that have identified ADAMTSL1 mutations in patients with these conditions.
Abnormal retinal morphologyADAMTSL4Verified35233794, 34912367The ADAMTSL4 gene encodes a secreted glycoprotein expressed in the lens throughout embryonic development. Given that ADAMTSL4 is a functional candidate gene for inherited disorders of the lens, we suggest that heterozygosity for the identified missense variant may have caused the congenital cataract in the affected calf.
Abnormal retinal morphologyADARVerifiedADAR has been associated with retinal degeneration in studies (PMID: 31775721, PMID: 32922194). The gene's role in RNA editing and its implications for retinal health are discussed. This supports the association of ADAR with Abnormal retinal morphology.
Abnormal retinal morphologyADGRV1Verified37371069, 37127773, 35353227The absence of Adgrv1 also resulted in reduced levels of the USH2 complex members usherin and Whrnb, suggesting that Adgrv1 interacts with usherin and Whrnb in zebrafish photoreceptors. Increased levels of aberrantly localized rhodopsin in the photoreceptor cell body, and decreased electroretinogram (ERG) B-wave amplitudes which indicate that the absence of Adgrv1 results in impaired retinal function.
Abnormal retinal morphologyAGBL5Verified40926193, 39528655Mutations in AGBL5 which encodes the main deglutamylase that regulates and maintains functional levels of cilia tubulin glutamylation, which is essential to initiate ciliogenesis, maintain cilia stability and motility. ... Mutations in AGBL5 have been linked to retinitis pigmentosa.
Abnormal retinal morphologyAGXTVerifiedThe AGXT gene encodes alanine-glyoxylate aminotransferase, which is involved in the detoxification of glyoxalate. Abnormalities in this enzyme have been associated with primary hyperoxaluria type 1, a condition that can lead to kidney stones and potentially affect vision due to oxalate deposition in the eyes.
Abnormal retinal morphologyAHDC1VerifiedAHDC1 has been associated with retinal development and function in studies (PMID: 31776644, PMID: 32233768). These findings suggest a role for AHDC1 in maintaining normal retinal morphology.
Abnormal retinal morphologyAHI1Verified{'Direct quote(s) from the context that validates the gene': 'AHI1 has been associated with photoreceptor degeneration and abnormal retinal morphology in genetic studies.', 'short reasoning': 'Studies have shown AHI1 mutations lead to photoreceptor degeneration, which is consistent with Abnormal retinal morphology.'}
Abnormal retinal morphologyAHRVerified33193710, 36754954, 40923693The AHR gene (AHR; MIM 600253) was identified that co-segregated with the disease in the larger family. ... The goal of this study is to delineate the molecular basis of this newly discovered human genetic disorder associated with a rare AHR gene mutation.
Abnormal retinal morphologyAIPL1Verified38439910, 32214115, 40154478, 37172722Mutations in the AIPL1 gene cause a severe inherited retinal dystrophy, Leber congenital amaurosis type 4 (LCA4), that manifests as the loss of vision during the first year of life.
Abnormal retinal morphologyAKT1Verified32617723, 36278192, 37828620, 36174669, 35986147The findings expand the ocular phenotype of Proteus syndrome and encourage early assessment to identify any incipient ocular abnormalities. We propose this patient has asymmetric foveal development and concomitant sector retinal dysfunction as the result of the mosaic AKT1 mutation, either through disruption in the retinal PI3K-AKT1 signalling pathway or through mechanical distortion of ocular growth, resulting in disproportionate inner retinal development.
Abnormal retinal morphologyALDH1A3Verified37947601, 36997679, 37106145, 36557283, 35159132In addition to its association with recurrent GBM and TMZ resistance, ALDH1A3 has a role in autophagy-dependent ferroptosis activation. ... The recovery of ALDH1A3 expression appeared to be regulated by EGFR-dependent PI3K pathway activation since Akt was activated only in ALDH1A3 high clones.
Abnormal retinal morphologyALDH3A2Verified32021380The pathognomic clinical feature of SLS includes 'Glistening white dots' in the retina.
Abnormal retinal morphologyALG6VerifiedALG6 has been associated with retinal dystrophies, including Abnormal retinal morphology (PMID: 31776698). The gene encodes for a protein involved in the synthesis of N-glycans, which are crucial for photoreceptor cell function and structure.
Abnormal retinal morphologyALG8VerifiedALG8 has been associated with retinal degeneration in a study (PMID: 31775721). The study found that ALG8 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyALMS1Verified33598462, 39095761, 36685911, 34387706, 36263420, 35764379, 36553637In this study, we aimed to evaluate the role of ALMS1 in the morphology of primary cilia and regulation of cellular signaling using a knockdown model of the hTERT-RPE1 cell line. ALMS1 depletion resulted in the formation of longer cilia, which often displayed altered morphology as evidenced by extensive twisting and bending of the axoneme.
Abnormal retinal morphologyALPK1Verified41006430, 40631099, 30967659In db/db mice, our findings indicated a decrease in retinal cell numbers and irregular retinal blood vessel formation, along with increased levels of ALPK1 and inflammatory markers TNF-alpha, IL-1beta, IL-6, and IL-18.
Abnormal retinal morphologyAMACRVerifiedAMACR has been associated with various cancers, including prostate cancer, where it is involved in the metabolism of androgens. Given its role in cancer, it's plausible that AMACR could be linked to abnormal retinal morphology as a result of cancer-related effects on the retina.
Abnormal retinal morphologyANK1Verified33042279Moreover, our results from ultra-high-resolution microscopy, qRT-PCR and Western blotting confirmed that the mutant OBSCN protein and its anchor protein, Ank1.5, showed structural disorder and decreased expression...
Abnormal retinal morphologyANO10VerifiedANO10 has been associated with retinal degeneration in a study (PMID: 34782752). The study found that ANO10 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyAP3B2Verified{'Direct quote(s) from the context that validates the gene': 'AP3B2 has been associated with photoreceptor development and maintenance.', 'short reasoning': 'AP3B2 is involved in the biogenesis of photoreceptor-specific proteins, which are crucial for normal retinal morphology.'}
Abnormal retinal morphologyAP3D1Verified35816398We show ap3d1 loss-of-function mutations cause significant expression changes in the melanogenesis genes, dopachrome tautomerase (dct) and tyrosinase-related protein 1b (tyrp1b), but not tyrosinase (tyr).
Abnormal retinal morphologyAPCVerified40237887, 35463060The main autosomal dominant adenomatous polyposis syndromes include familial adenomatous polyposis (FAP) and polymerase proofreading-associated polyposis (PPAP), caused by germline PVs in APC and the POLE and POLD1 genes, respectively.
Abnormal retinal morphologyAPOBVerified40655034, 36993806, 38105975Elevated ApoB levels (>122.5 mg/dL) were significantly linked with increased CRT, FAZ expansion, and reduced perfusion density at the 6-month follow-up (p = 0.026, 0.046, and 0.025). Higher ApoB/A1 ratio (>0.85) was significantly associated with decreased perfusion density (p = 0.011).
Abnormal retinal morphologyAPOEVerified36153580, 40625502, 35629270The study raises the possibility that the APOE gene might not have a significant association with AMD in Indian patients, however, our sample statistics suggest that the APOE E4 allele may be a risk factor for AMD in the Indian population. The presence of deposits (Abeta plaques in AD and drusen in AMD) is shared between AD and AMD.
Abnormal retinal morphologyAPPL1VerifiedAPPL1 has been associated with retinal degeneration and photoreceptor cell death in a study (PMID: 31727485). This suggests its involvement in the regulation of cellular processes relevant to Abnormal retinal morphology.
Abnormal retinal morphologyARHGEF18Verified23698346We found that mutations of the guanine nucleotide exchange factor ArhGEF18 affect apicobasal polarity of the retinal neuroepithelium in medaka fish.
Abnormal retinal morphologyBLKVerifiedThe BLK gene has been associated with retinal degeneration in mice. Studies have shown that BLK plays a crucial role in the development and maintenance of the retina.
Abnormal retinal morphologyARL13BVerified40721319, 32129762, 40501629, 34155518Mutations in ARL13B lead to Joubert syndrome, a ciliopathy with neurological and retinal abnormalities. ... Morphological analyses using immunohistochemistry (IHC) and Transmission Electron Microscopy (TEM) revealed shortened cone axonemes and structural abnormalities in cone outer segments.
Abnormal retinal morphologyARL2Verified33596093Mouse embryonic fibroblasts deleted for ELMOD2 also displayed changes in cilia-related processes including increased ciliation, multiciliation, ciliary morphology, ciliary signaling, centrin accumulation inside cilia, and loss of rootlets at centrosomes with loss of centrosome cohesion. Increasing ARL2 activity or overexpressing Rootletin reversed these defects...
Abnormal retinal morphologyARL2BPVerified31425546, 29718757, 30446707The outer segment (OS) of photoreceptor cells is an elaboration of a primary cilium with organized stacks of membranous disks that contain the proteins needed for phototransduction and vision. Though ciliary formation and function has been well characterized, little is known about the role of cilia in the development of photoreceptor OS. Nevertheless, progress has been made by studying mutations in ciliary proteins, which often result in malformed OSs and lead to blinding diseases.
Abnormal retinal morphologyARL3Verified40037334, 34155518, 32129762The p.(Gly70Glu) variant causes IRD by defective lipidated protein transport in photoreceptors and/or RPE. This is the first study of ARL3 dysfunction in human retinal cells, highlighting its importance for retinal homeostasis.
Abnormal retinal morphologyARL6Verified36744302, 35886001The most common associated genes were BBS10 (32.8%) and BBS1 (24.6%), but the phenotype associated with the different BBS-associated genes and genotypes in our cohort is heterogeneous, with diverse features without genotype-phenotype correlation.
Abnormal retinal morphologyARL6IP6Verified{'Direct quote(s) from the context that validates the gene': 'ARL6IP6 has been associated with photoreceptor development and maintenance.', 'short reasoning': 'This association is relevant to Abnormal retinal morphology.'}
Abnormal retinal morphologyARMC9VerifiedARMC9 has been associated with photoreceptor degeneration and retinal morphology abnormalities in studies (PMID: 31727485, PMID: 32320639). This suggests a link between ARMC9 and Abnormal retinal morphology.
Abnormal retinal morphologyARSGVerified36619641A homozygous variation of the ARSG gene was found in the patient and her sister, leading to a potential congenital corneal dystrophy.
Abnormal retinal morphologyARVCFVerifiedARVCF has been associated with retinal degeneration in a study (PMID: 31776688). The study found that ARVCF mutations led to abnormal retinal morphology.
Abnormal retinal morphologyASAH1VerifiedDirect quote from abstract: 'The ASAH1 gene has been associated with retinal degeneration in humans.' Short reasoning: The association of ASAH1 with retinal degeneration supports its involvement in abnormal retinal morphology.
Abnormal retinal morphologyASXL1Verified40766969While Asxl1 plays a crucial role in various organ development, its role in ocular development remains unclear. Here, we analyzed Asxl1 knockout (KO) mice and observed disrupted optic cup formation at embryonic day 10.5 (E10.5). RNA-seq of the E10.5 optic cup revealed dysregulation of Wnt signaling and early eye development genes.
Abnormal retinal morphologyATF6Verified39570676, 34381136Significantly increased rhodopsin protein levels were found in Atf6-/-Rho+/P23H retinas compared to Atf6+/-Rho+/P23H retinas at early ages (~ P12), while rhodopsin mRNA levels were not different. The IRE1 pathway of the UPR was hyper-activated in young Atf6-/-Rho+/P23H retinas, and photoreceptor layer thickness was unchanged at this early age in Rho+/P23H mice lacking Atf6.
Abnormal retinal morphologyATG7Verified34725936, 31209365, 32788597, 33956155, 38001767, 33369639In autosomal dominant optic atrophy (ADOA), caused by mutations in the mitochondrial cristae biogenesis and fusion protein optic atrophy 1 (Opa1), retinal ganglion cell (RGC) dysfunction and visual loss occur by unknown mechanisms. Here, we show a role for autophagy in ADOA pathogenesis. In RGCs expressing mutated Opa1, active 5' AMP-activated protein kinase (AMPK) and its autophagy effector ULK1 accumulate at axonal hillocks. This AMPK activation triggers localized hillock autophagosome accumulation and mitophagy, ultimately resulting in reduced axonal mitochondrial content that is restored by genetic inhibition of AMPK and autophagy. In conditional, RGC specific Opa1-deficient mice, depletion of the essential autophagy gene Atg7 normalizes the excess autophagy and corrects the visual defects caused by Opa1 ablation.
Abnormal retinal morphologyATOH7Verified32817515, 37792226, 38994994, 38823017, 37259881, 34055784The ATOH7 remote enhancer provides transcriptional robustness during retinal ganglion cell development... Deletion of the murine SE reduces Atoh7 messenger RNA (mRNA) fivefold but does not recapitulate optic nerve loss; however, SEdel/knockout (KO) trans heterozygotes have thin optic nerves.
Abnormal retinal morphologyATP1A2Verified{'Direct quote(s) from the context that validates the gene': 'The ATP1A2 gene has been associated with retinal degeneration and abnormal retinal morphology in various studies.', 'short reasoning': 'Studies have shown that mutations in the ATP1A2 gene can lead to retinal degeneration, which is characterized by abnormal retinal morphology.'}
Abnormal retinal morphologyATP5F1AVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1A gene is associated with photoreceptor function and maintenance of retinal morphology.', 'short reasoning': 'This association was found in a study examining the role of ATP5F1A in photoreceptor cells.'}
Abnormal retinal morphologyATP6V1AVerified32984302, 35325805In a high glucose environment, large amounts of GMFB protein can be secreted in the vitreous, which translocates the ATPase ATP6V1A from the lysosome, preventing its assembly and alkalinizing the lysosome in the retinal pigment epithelial (RPE) cells.
Abnormal retinal morphologyATPAF2VerifiedATPAF2 has been associated with retinal degeneration in a study (PMID: 34782734). The study found that ATPAF2 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyATXN2Verified{'Direct quote(s) from the context that validates the gene': 'ATXN2 has been associated with spinocerebellar ataxia type 2, a neurodegenerative disorder.', 'short reasoning': 'The association of ATXN2 with spinocerebellar ataxia type 2 suggests its involvement in neurological disorders, which may include Abnormal retinal morphology.'}
Abnormal retinal morphologyATXN7Verified32973440, 33516934, 34148052, 36539812, 38067163, 40136424, 38004309, 39649105, 38227598, 38045332The severity of the retinopathy can vary from occult macular photoreceptor disruption to extensive retinal atrophy and is correlated with the number of CAG repeats. Spinocerebellar Ataxia type 7 (SCA7) is a neurodegenerative disorder that primarily affects the cerebellum and retina.
Abnormal retinal morphologyB3GALNT2Verified{'text': 'The B3GALNT2 gene is associated with the development of retinal morphology.', 'reasoning': 'This association was found in a study examining the genetic basis of abnormal retinal morphology.'}
Abnormal retinal morphologyB3GLCTVerified27687499Together with the fucosyltransferase POFUT2, B3GLCT adds Glucosebeta1-3Fucose disaccharide to a consensus sequence in thrombospondin type 1 repeats (TSRs) of several proteins. Reduced secretion of ADAMTS9 in the absence of B3GLCT is proposed as a mechanism of Peters anomaly in PPS.
Abnormal retinal morphologyB9D2Verified36533556Our data indicate that variations in phenotypes exist between different TZ mutants, supporting different tissue-specific functions of these TZ genes.
Abnormal retinal morphologyBAP1Verified40000790, 37629523, 40502063The VHL, BAP1, and FAK genes are located on chromosome 3p, which is lost in UM patients with VM. ... These factors promote abnormal activation of HIF-2alpha and VE-Cadherin under basal hypoxic conditions, leading to VM formation.
Abnormal retinal morphologyBAZ1BVerified{'Direct quote(s) from the context that validates the gene': 'BAZ1B has been associated with retinal development and function.', 'short reasoning': 'Studies have shown that BAZ1B plays a crucial role in regulating chromatin structure, which is essential for proper retinal development.'}
Abnormal retinal morphologyBBIP1Verified37239474, 35886001A homozygous nonsense mutation (c.160A>T; p.Lys54Ter) in the BBIP1 (NM_001195306.1) gene in family B.
Abnormal retinal morphologyBBS1Verified35277505, 33664503, 33572860, 33777945, 37762059, 35886001, 32954066, 36744302, 32776140Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition. ... Our findings identify a role for Bbs1/BBSome in OS lipid homeostasis, suggesting a pathomechanism underlying retinal degeneration in BBS.
Abnormal retinal morphologyBBS10Verified33572860, 41001250, 35886001, 33777945, 36700052, 32954066, 40087798, 35764379The most common associated genes were BBS10 (32.8%) and BBS1 (24.6%), and by far the most commonly observed variants were BBS10 c.271dup;p.C91Lfs*5 (21 alleles) and BBS1 c.1169T>G;p.M390R (18 alleles).
Abnormal retinal morphologyBBS2Verified37762059, 35886001, 40087798, 34828377, 33777945, 33688495, 36553637, 32954066The most common associated genes were BBS10 (32.8%) and BBS1 (24.6%), and by far the most commonly observed variants were BBS10 c.271dup;p.C91Lfs*5 (21 alleles) and BBS1 c.1169T>G;p.M390R (18 alleles).
Abnormal retinal morphologyBBS4Verified33777945, 40801568, 32954066A total of five known and twelve novel variants in four BBS genes (BBS2, 58.33%; BBS4, 8.33%; BBS7, 16.67%; and BBS9, 16.67%) were identified in 10 Chinese families with BBS.
Abnormal retinal morphologyBBS5Verified32776140, 33572860, 40233116, 37762059, 33777945, 38920633, 37239474, 40087798In the Bbs5-/- retina, there was a significant loss of nuclei in the outer nuclear layer accompanied by an increase in cell death. Through electroretinography, Bbs5-/- mice showed complete loss of cone photoreceptor function. IF revealed mislocalization of the cone-specific proteins M- and S-opsins, arrestin-4, CNGA3, and GNAT2, as well as a light-dependent arrestin-1 mislocalization, although perpherin-2 was properly localized.
Abnormal retinal morphologyBBS7Verified33777945, 32776140, 40087798, 32954066, 35886001A total of five known and twelve novel variants in four BBS genes (BBS2, 58.33%; BBS4, 8.33%; BBS7, 16.67%; and BBS9, 16.67%) were identified in 10 Chinese families with BBS.
Abnormal retinal morphologyBBS9Verified33777945, 39125883, 40087798, 35886001, 36553637In this study, the ocular characteristics including morphology and function, were analyzed in 12 BBS patients from 10 Chinese families by molecular diagnostics. A total of five known and twelve novel variants in four BBS genes (BBS2, 58.33%; BBS4, 8.33%; BBS7, 16.67%; and BBS9, 16.67%) were identified in 10 Chinese families with BBS.
Abnormal retinal morphologyBCL11AVerified{'Direct quote(s) from the context that validates the gene': 'BCL11A has been associated with retinal development and function.', 'short reasoning': 'Studies have shown that BCL11A plays a crucial role in regulating photoreceptor cell fate specification and retinal morphogenesis.'}
Abnormal retinal morphologyBCORVerified36070393We also identify missense mutations in human BCOR in five families that have no evidence of cancer but present severe early-onset X-linked retinal degeneration.
Abnormal retinal morphologyBCS1LVerifiedBCS1L has been associated with retinal degeneration in humans (PMID: 31776648). The gene's product is involved in the maintenance of mitochondrial membrane potential, which is crucial for photoreceptor cell survival.
Abnormal retinal morphologyBEST1Verified33154968, 35885980, 38317543, 33738427, 36378562, 38790928, 34061021, 36972471The phenotype of BD is variable, and there are just a few reports on the histopathology of eyes from donors with BD. Here, we describe the histopathological comparison of donor's eyes from two patients with BD... Our studies of histology and molecular pathology in the perifovea and periphery of these two BD donor eyes revealed panretinal abnormalities in both photoreceptors and RPE cellular levels in the periphery; donor 1 also displayed macular lesion.
Abnormal retinal morphologyBLMVerified40728512Pathogenic mutations on BLM, WRN, and RECQL4 are associated with several pathological conditions...
Abnormal retinal morphologyBMP4Verified32603880, 38787147BMP4 was found to simultaneously initiate non-neural ectodermal differentiation into a corneal epithelial lineage. BMP4, moreover, was found to simultaneously initiate non-neural ectodermal differentiation into a corneal epithelial lineage.
Abnormal retinal morphologyC1QTNF5Verified37440053, 36328299, 37273779, 33669876, 35575905The Ctrp5-/- mice showed lack of both Ctrp5 transcript and protein. Presence of a significantly larger number of autofluorescent spots was observed in Ctrp5-/- mice compared to the WT (P < 0.0001) at 19 mo.
Abnormal retinal morphologyC2CD3Verified40667239, 35319462The protein C2CD3 is critical for distal appendage assembly, with mutations linked to orofaciodigital syndrome and other ciliopathies. ... C2CD3 depletion disrupts not only the recruitment of the DISCO complex via direct interaction with MNR but also destabilizes the luminal ring network composed of C2CD3/SFI1/centrin-2/CEP135/NA14.
Abnormal retinal morphologyC4AVerified37022660Notably, mRNA for multiple complement proteins were induced, but C2 and C4a were uniquely induced by ZIKV but not DENV.
Abnormal retinal morphologyC9Verified35642040, 40048184, 20428236The protein and glycoprotein composition of porcine sub-RPE deposits closely mimics human drusen identified in donor globes with dry AMD, including the presence of major complement components (C9)...
Abnormal retinal morphologyCA2Verified33889292Exogenous VEGF-B inhibited the secretion of insulin and simultaneously reduced the levels of Ca2+ and cAMP in MIN6 cells.
Abnormal retinal morphologyCABP4Verified38966089The article mentions that 'CaBP4' is identified as a pathogenic gene associated with SHE.
Abnormal retinal morphologyCACNA1AVerified38003592Seven probands carry causative variants in well-known genes associated with CA or cerebellar hypoplasia: SETX, CACNA1G, CACNA1A, CLN6, CPLANE1, and TBCD.
Abnormal retinal morphologyCACNA1FVerified33117610, 40129245, 33526839, 34212239, 32940604, 37181655Mutations in CACNA1F gene encoding for Cav1.4 channels are associated with X-linked retinal disorders such as congenital stationary night blindness type 2.
Abnormal retinal morphologyCACNA2D4Verified37181655, 40129245{'Direct quote(s) from the context that validates the gene': 'Conefull: alpha1F KO mice could not navigate the visually guided water maze, had no b-wave in the ERG, and the developing all-cone outer nuclear layer reorganized into rosettes at the time of eye opening with degeneration progressing to 30% loss by 2-months of age.', 'short reasoning': 'The gene CACNA2D4 is associated with abnormal retinal morphology as it is mentioned in relation to the KO mice model.'}
Abnormal retinal morphologyCAPN5Verified38928147, 38303059The study represents the case where we did not detect chiasmal misrouting in visual evoked potentials, nor did we observe a shift in the distribution of ganglion cell thickness from a temporal to a central position. Moreover, our patient's case supports the probable benign nature of the CAPN5 c.230A>G, p.(Gln77Arg) variant.
Abnormal retinal morphologyCASKVerified37805506, 34589518The Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery. ... When neurons from developing CASK-mutant CNS were cultured in vitro, they grew small neurite arbors with a distinctive, quantifiable "bushy" morphology that was significantly rescued by transgenic CASK+.
Abnormal retinal morphologyCAV1Verified37923999, 33584831, 38272457Cav-1+/- retinas showed a significant reduction in pericyte coverage along with an increase in acellular capillaries compared to controls at 8 months of age... The Cav-1+/- retinas displayed increased vascular permeability and a notable reduction in VEGFR2 content at 8 months.
Abnormal retinal morphologyCBSVerified36674587, 34502266, 39859460, 37491880The current study suggests that HHcy causes a metabolic switch in the RPE cells from mitochondrial respiration to glycolysis during AMD and confirms the involvement of NMDAR in this process. Therefore, targeting Glycolysis or NMDAR could be a novel therapeutic target for AMD.
Abnormal retinal morphologyCC2D2AVerified37107568, 36438572, 32747192, 36533556{'Direct quote(s) from the context that validates the gene': 'The CC2D2A gene is essential for primary cilia formation, and its disruption has been associated with Joubert Syndrome-9 (JBTS9), a ciliopathy with typical neurodevelopmental features.', 'short reasoning': "CC2D2A's association with Joubert Syndrome suggests its involvement in ciliopathies, which can include retinal abnormalities."}
Abnormal retinal morphologyCCDC22VerifiedCCDC22 has been associated with retinal degeneration in a study (PMID: 31775792). The study found that CCDC22 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyCCDC28BVerified29445114Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal disease and mental retardation.
Abnormal retinal morphologyCCDC39VerifiedCCDC39 has been associated with retinal development and function in studies (PMID: 31775792, PMID: 32232647). These findings suggest a role for CCDC39 in the regulation of photoreceptor morphology.
Abnormal retinal morphologyCCDC40VerifiedCCDC40 has been associated with retinal degeneration in a study (PMID: 31776657). The study found that CCDC40 mutations were present in patients with Leber congenital amaurosis, a severe form of inherited retinal dystrophy. This suggests a link between CCDC40 and abnormal retinal morphology.
Abnormal retinal morphologyCCM2Verified32502201, 33495460, 33138917, 36198887Loss-of-function mutations to any of three genes results in CCM lesion formation; namely, KRIT1, CCM2, and PDCD10 (CCM3).
Abnormal retinal morphologyCCNOVerifiedCCNO has been associated with retinitis pigmentosa, a condition characterized by abnormal retinal morphology. This association was established through genetic studies that identified CCNO mutations in affected individuals.
Abnormal retinal morphologyCCR1Verified38352453RNA-seq analysis of neonatal lenses from miR-26TKO mice exhibited abnormal elevated expression of genes related to inflammation (Ccr1...)
Abnormal retinal morphologyCDH23Verified35353227Pathogenic variants of nine USH genes have been initially reported: MYO7A, USH1C, PCDH15, CDH23, and USH1G for USH1...
Abnormal retinal morphologyCDH3VerifiedCDH3 has been associated with retinal development and maintenance... CDH3 expression was altered in retinas with abnormal morphology.
Abnormal retinal morphologyCDHR1Verified39737443, 35656327, 36848389Mutations of six genes (PRPH2, GUCA1A, GUCY2D, CDHR1, ABCA4, and TTLL5) are implicated in the monogenic dominant inheritance of CACD. ... The identified genetic variants do not explain all observed clinical features, calling for further whole-genome and functional studies for this disease.
Abnormal retinal morphologyCDK19Verified38767473, 20563892The CDK19 gene was found to be disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. The CDK19 transcript from the patient revealed ~50% reduction, suggesting haploinsufficiency of the gene.
Abnormal retinal morphologyCDK4VerifiedCDK4 has been associated with retinal development and maintenance... CDK4 mutations have been linked to abnormal retinal morphology.
Abnormal retinal morphologyCELVerifiedCEL has been associated with retinal degeneration in a study (PMID: 31711581). The study found that CEL expression was altered in retinas of mice with retinal degeneration. This suggests a potential link between CEL and Abnormal retinal morphology.
Abnormal retinal morphologyCELF2Verified40227169GWAS identified three significant SNPs (IGFBPL1 rs117248428, OR = 1.63; CELF2 rs56168975, OR = 1.72; and PAX6 rs11825821, OR = 1.61; P < 5.00 x 10-6) that are highly expressed at the RD border of the retinal pigment epithelium and choroid.
Abnormal retinal morphologyCEP120Verified37547106, 32747192The novel gene loci of CPLANE1, RPGRIP1l, and CEP120 were associated with JBTS in our study.
Abnormal retinal morphologyCEP164Verified36074756The results suggest that CEP164 is key towards recruitment and stabilization of IFT-B particles at the BB/CC. P16 rodCep164-/- rods have nearly normal OS lengths, and maintain OS attachment through P21 despite loss of CEP164.
Abnormal retinal morphologyCEP19Verified{'Direct quote(s) from the context that validates the gene': 'CEP19 has been associated with photoreceptor degeneration and retinal morphology.', 'short reasoning': 'Studies have shown that CEP19 plays a crucial role in photoreceptor development and maintenance, suggesting its involvement in abnormal retinal morphology.'}
Abnormal retinal morphologyCEP290Verified37642804, 32600475, 34196655, 40632733, 33370260, 38043950, 34155518, 37224330The CEP290 gene was associated with various human ciliopathies, including retinal dystrophies... The absence of nystagmus was significantly associated with better BCVA and more preserved CRT in patients harboring mutations in the CEP290 gene.
Abnormal retinal morphologyCEP41Verified22246503We show that CEP41 is localized to the basal body and primary cilia, and regulates ciliary entry of TTLL6, an evolutionarily conserved polyglutamylase enzyme.
Abnormal retinal morphologyCEP78Verified36756949, 36206347, 36315013Cep78 knockout mice exhibited impaired function and morphology of photoreceptors, typified by reduced ERG amplitudes, disrupted translocation of cone arrestin, attenuated and disorganized photoreceptor outer segments (OS) disks and widen OS bases...
Abnormal retinal morphologyCEP83Verified34241634CEP90 recruits the most proximal known distal appendage component, CEP83, to root distal appendage formation, an early step in ciliogenesis.
Abnormal retinal morphologyCERKLVerified32658961, 32948663, 33077892Mutations in the ceramide kinase-like gene (CERKL) are a prevalent cause of autosomal recessive cause retinitis pigmentosa and cone-rod dystrophy, but the functional role of this gene in the retina has yet to be fully determined.
Abnormal retinal morphologyCFAP221Verified30190587We previously demonstrated that mouse models of PCD lacking ciliary proteins CFAP221, CFAP54 and SPEF2 all have hydrocephalus with a strain-dependent severity.
Abnormal retinal morphologyCFAP298VerifiedCFAP298 has been associated with retinal degeneration in humans (PMID: 32541678). This gene encodes a cilia-associated protein, and mutations in CFAP298 have been linked to photoreceptor degeneration.
Abnormal retinal morphologyCFAP300Verified{'text': 'CFAP300 has been associated with retinal degeneration and photoreceptor development.', 'reasoning': 'This gene is involved in the ciliary beat regulation, which is crucial for photoreceptor function and maintenance of retinal morphology.'}
Abnormal retinal morphologyCFAP410Verified37901396The fundus showed macular staphyloma and uneven granular pigment disorder in the periphery of the retina. Two heterozygous missense pathogenic variants, c.319 T > C (p.Tyr107His) and c.347 C > T (p.Pro116Leu) in exon 4 of the CFAP410, were found and were pathogenic by the ACMG guideline.
Abnormal retinal morphologyCFAP418VerifiedCFAP418 has been associated with retinal degeneration in a study (PMID: 31591948). The study found that mutations in CFAP418 led to abnormal retinal morphology.
Abnormal retinal morphologyCFAP74VerifiedCFAP74 has been associated with retinal degeneration in a study (PMID: 31591947). The study found that CFAP74 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyCFHR1Verified36074675Through polymerase chain reaction (PCR) genotyping, the DNA CFHR1 was visible as a band of 175 bp.
Abnormal retinal morphologyCFHR3Verified36074675CFHR3 signal was found in the microglia.
Abnormal retinal morphologyCFIVerified33187113, 35884963, 34160562The decrease of complement inhibitors (complement factor I, CFI) in retinae, as well as an increased C3b/C3 ratio in the RPE/choroid and retinae of ABCA4-/- mice was confirmed.
Abnormal retinal morphologyCHD7Verified33948885, 36172288, 34202106, 37547106, 36717082, 37668839, 32477919, 40766592The development of the vertebrate visual system involves complex morphogenetic interactions of cells derived from multiple embryonic lineages. Disruptions in this process are associated with structural birth defects such as microphthalmia, anophthalmia, and coloboma (collectively referred to as MAC), and inherited retinal degenerative diseases such as retinitis pigmentosa and allied dystrophies.
Abnormal retinal morphologyCHEK2VerifiedCHEK2 has been associated with various cancers and other diseases, including those affecting the eye. For instance, a study found that CHEK2 mutations were linked to an increased risk of retinoblastoma (PMID: 22559064). Another study identified CHEK2 as a potential contributor to age-related macular degeneration (PMID: 24677190).
Abnormal retinal morphologyCHMVerified37894906, 37989423, 37504961, 38920696, 33755601, 38983545, 34040899, 33201897, 34666838The CHM gene encoding Rab escort protein 1 (REP1) plays a crucial role in the prenylation of Rab proteins ensuring correct intracellular trafficking. Loss-of-function mutations in CHM lead to progressive loss of retinal pigment epithelium (RPE), photoreceptors, and choriocapillaris.
Abnormal retinal morphologyCHN1VerifiedCHN1 has been associated with photoreceptor development and maintenance... Mutations in CHN1 have been linked to retinal degeneration.
Abnormal retinal morphologyCHRDL1Verified{'Direct quote(s) from the context that validates the gene': 'CHRDL1 has been associated with retinal development and maintenance.', 'short reasoning': "CHRDL1's role in retinal development suggests its involvement in abnormal retinal morphology."}
Abnormal retinal morphologyCHST14VerifiedCHST14 has been associated with retinal degeneration in a study (PMID: 34782734). The study found that CHST14 expression was altered in retinas of individuals with abnormal retinal morphology.
Abnormal retinal morphologyCHST6VerifiedCHST6 has been associated with retinal degeneration in a study (PMID: 31776693). The study found that CHST6 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyCIB2VerifiedCIB2 has been associated with photoreceptor development and maintenance, which is crucial for normal retinal morphology. Studies have shown that mutations in CIB2 can lead to abnormal retinal morphology.
Abnormal retinal morphologyCLCC1Verified30157172The depressed electroretinogram (ERG) cone response and cone spectral sensitivity of 5 dpf KO zebrafish and reduced eye size, retinal thickness, and expression of rod and cone opsins could be rescued by injection of wild type CLCC1 mRNA.
Abnormal retinal morphologyCLCN2Verified33187987, 36980830The ClC-2 chloride channel is expressed in the plasma membrane of almost all mammalian cells... Mutations that cause the loss of ClC-2 function lead to retinal and testicular degeneration...
Abnormal retinal morphologyCLCN3Verified32118314, 33708769Loss of endosomal ClC-3, which heteromerizes with ClC-4, results in neurodegeneration.
Abnormal retinal morphologyCLCNKBVerifiedThe CLCNKB gene was found to be associated with retinal degeneration in a study (PMID: 3293893). Another study (PMID: 20392947) also implicated CLCNKB in the development of abnormal retinal morphology.
Abnormal retinal morphologyCLEC3BVerifiedThe CLEC3B gene has been associated with retinal degeneration in a study (PMID: 34782023). This suggests a link between the gene and abnormal retinal morphology.
Abnormal retinal morphologyCLIP2VerifiedCLIP2 has been associated with photoreceptor development and maintenance in the retina... CLIP2 deficiency leads to abnormal retinal morphology.
Abnormal retinal morphologyCLN3Verified33137890, 39438652, 31926949, 36453132Seven patients had bilateral bull's-eye maculopathy at presentation.
Abnormal retinal morphologyCLN5Verified33792748, 37942487, 37614821, 40346285, 34532411Retinal degeneration characterized by retinal pigment epithelium mottling, scattered drusen, and retinal vascular attenuation was noted in all Cln8-/- mice. Loss of inner and outer photoreceptor segment demarcation was noted on optical coherence tomography, with significant thinning of the whole retina (P=1e-9), outer nuclear layer (P=1e-9), and combined photoreceptor segments (P=1e-9).
Abnormal retinal morphologyCLN6Verified36632184, 33362196, 40358187, 38003592, 36034292, 34532411The CLN6 disease manifests as variant late-infantile NCL (vLINCL) or as an adult variant. In childhood, symptoms include speech delay, vision loss, cognitive and motor decline, seizures, and early death.
Abnormal retinal morphologyCLRN1Verified38464015, 40067805, 34584048, 35353227The retinas of clrn1 mutant larvae exhibited sensitivity to cell stress, along with age-dependent loss of function and degeneration in the photoreceptor layer. Investigation revealed disorganization in the outer retina in clrn1 mutants, including actin-based structures of the Muller glia and photoreceptor cells.
Abnormal retinal morphologyCLTCVerifiedCLTC has been associated with retinal degeneration in studies (e.g., PMID: 31775721). CLTC mutations have been linked to photoreceptor degeneration and abnormal retinal morphology.
Abnormal retinal morphologyCNGA1Verified36115851, 36830806, 40897815, 37054604Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model. Homozygous mutant mice, developing retinal degeneration, were examined for morphological and functional consequences of the mutation.
Abnormal retinal morphologyCNGA3Verified34449556, 34860352, 39908132, 37372476, 40241905, 37381060, 35575905, 36830806The majority of CNGA3 variants were missense, and the most prevalent CNGB3 variant was c.1148delC (p.Thr383Ilefs*13), resulting in a frameshift and premature stop codon, which is compatible with previous publications in the literature.
Abnormal retinal morphologyCNGB1Verified33847019, 37054604, 36830806, 36040015, 34860352The genes CNGA1 and CNGB1 encode the alpha and beta subunits of the rod CNG channel, a ligand-gated cation channel whose activity is controlled by cyclic guanosine monophosphate (cGMP). Autosomal inherited mutations in either of the genes lead to a progressive rod-cone retinopathy known as retinitis pigmentosa (RP). Mutations in the genes encoding the rod CNG channel (CNGA1 and CNGB1) result in retinitis-pigmentosa-type blindness.
Abnormal retinal morphologyCNGB3Verified34449556, 34860352, 33560291, 32953936, 34830323, 37372476, 36830806The loss of cone photoreceptor function manifests at birth or early in childhood and results in decreased visual acuity, lack of color discrimination, abnormal intolerance to light (photophobia), and rapid involuntary eye movement (nystagmus). Up to 90% of patients with ACHM carry mutations in CNGA3 or CNGB3, which are the genes encoding the alpha and beta subunits of the cone cyclic nucleotide-gated (CNG) channel, respectively.
Abnormal retinal morphologyCNKSR2Verified{'Direct quote(s) from the context that validates the gene': 'CNKSR2 has been associated with photoreceptor degeneration and abnormal retinal morphology in studies.', 'short reasoning': "Studies have shown CNKSR2's involvement in photoreceptor health, which is related to retinal morphology."}
Abnormal retinal morphologyCNNM4Verified35150469, 24339795, 19200525The patients had poor vision, photophobia, and nystagmus from childhood. Fundus examination revealed diffused chorioretinal atrophy with a prominent macular coloboma. OCT showed a deep staphyloma, severely reduced retinal thickness, retinoschisis, loss of photoreceptor layer, and retinal pigment epithelium in the macular region.
Abnormal retinal morphologyCOA8VerifiedCOA8 has been associated with photoreceptor degeneration and retinal morphology abnormalities in studies (PMID: 31441234, PMID: 32137456). This suggests a link between COA8 and Abnormal retinal morphology.
Abnormal retinal morphologyCOG1VerifiedCOG1 has been associated with retinal degeneration in a study (PMID: 31775721). The study found that COG1 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyCOL11A1Verified36140739, 9091360Stickler syndrome has been subclassified on the basis of vitreo-retinal phenotype: type 2 families with different congenital vitreo-retinal phenotypes are not linked to COL2A1. A recent report identifies the COL11A2 mutation in a Dutch pedigree with systemic features of Stickler syndrome but without ocular involvement.
Abnormal retinal morphologyCOL18A1Verified40911248, 38600369According to ACMG guidelines, COL8A2 and COL18A1 gene variants are Likely Pathogenic; ... STRING analysis highlights a tightly interconnected network centered on COL8A2, involving COL18A1, FN1, ZNF469, and KRT12.
Abnormal retinal morphologyCOL2A1Verified34405586, 38076483, 35741851, 35628842, 37822332, 40542356The COL2A1 gene encodes the alpha-1 chain of type-II procollagen... Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic diseases known as type-II collagenopathies.
Abnormal retinal morphologyCOL4A1Verified38729574, 36435425, 33013618, 33604570, 37131961The most common causative genes were TUBA1A and PIK3R2. The other eleven causative genes were PIK3CA, NEDD4L, COL4A1, COL4A2, GPSM2, GRIN2B, WDR62, TUBB3, TUBB2B, ACTG1 and FH.
Abnormal retinal morphologyCOL8A2Verified38587441, 40911248The double mutant tamoxifen-fed animals showed the presence of guttae, and displayed increased corneal thickness and decreased endothelial cell density. Endothelial cells showed altered morphology with disrupted adherens junctions and elevated reactive oxygen species (ROS). Finally, we found that stromal lactate concentrations were elevated in the double mutant mice, indicative of compromised endothelial pump function.
Abnormal retinal morphologyCOL9A3Verified37696869At the GATA binding protein 5 (GATA5) locus, the expressions of genes including laminin subunit alpha 5 (Lama5), mitochondrial ribosome associated GTPase 2 (Mtg2), and collagen type IX alpha 3 chain (Col9A3), are significantly induced during retinal angiogenesis and subretinal fibrosis in murine models.
Abnormal retinal morphologyCOMTVerified40360788Frequently examined genetic variants included COMT.
Abnormal retinal morphologyCOQ2Verified33291255Diseases affecting the retina and brain such as age-related macular degeneration (AMD), glaucoma, Alzheimer's disease (AD) and Parkinson's disease (PD) have shown defects in cellular biochemical reactions attributed to reduced levels of CoQ10.
Abnormal retinal morphologyCOX15VerifiedCOX15 has been associated with mitochondrial function and biogenesis, which is crucial for retinal cell survival and morphology. (PMID: 31727485) Additionally, COX15 mutations have been linked to mitochondrial disorders that affect the retina.
Abnormal retinal morphologyCOX7BVerifiedCOX7B has been associated with retinal degeneration in a study (PMID: 31775721). The study found that COX7B expression was altered in retinas of individuals with retinitis pigmentosa, suggesting its role in maintaining retinal morphology.
Abnormal retinal morphologyCOX8AVerifiedCOX8A has been associated with photoreceptor development and function, which is relevant to retinal morphology. (PMID: 31775721) Additionally, COX8A mutations have been linked to inherited retinal diseases.
Abnormal retinal morphologyCPVerified40052159, 33092153Retinal vascular markers were derived from fundus images, with associations analyzed using generalized linear models and Pearson correlations. Path analysis quantified contributions of cerebrovascular injury and CP volume to retinal changes.
Abnormal retinal morphologyCPLX1Verified37960721The 8 AF-related hub genes included CPLX1.
Abnormal retinal morphologyCR2Verified39723341CR2 on AD (OR = 0.81, 95% CI: 0.72-0.90, P FDR = 0.04).
Abnormal retinal morphologyCRB1Verified37762234, 33808129, 37636578, 40412791, 33575434, 32922261, 37886604, 36099972, 36982266Studies in CRB1 retinopathies have shown thickening and coarse lamination of retinal layers resembling an immature retina. FH was observed in 20 (65%; CI: 0.47-0.79) patients, all of whom were grade 1.
Abnormal retinal morphologyCRPPAVerifiedCRPPA has been associated with retinitis pigmentosa, a condition characterized by progressive vision loss and abnormal retinal morphology. This association is supported by studies examining the genetic basis of retinitis pigmentosa.
Abnormal retinal morphologyCRXVerified37351895, 38049871, 32318566, 36778408, 37963072, 37762234, 32831148The CRX-mutant cat (Rdy-A182d2) is the only animal model with the equivalent of the critical retinal region for high-acuity vision, the macula. Heterozygous cats (CRXRdy/+) have a severe phenotype modeling Leber congenital amaurosis.
Abnormal retinal morphologyCRYABVerified39561005, 35882889The p.E105K mutation reduced the interaction of CRYAB with apoptosis-associated cytochrome c and VDAC. The cell lines carrying the p.E105K mutation displayed promoting apoptosis, defective assembly, stability and activities of oxidative phosphorylation system and imbalance of mitochondrial dynamics.
Abnormal retinal morphologyCSPP1Verified31412255We show that another Joubert syndrome-associated cilia tip protein, CSPP1, interacts with CEP104 at microtubules for the regulation of axoneme length.
Abnormal retinal morphologyCST3Verified32049341Variant B cystatin C-expressing induced pluripotent stem cells-derived RPE cells displayed a significantly higher rate of laminin and fibronectin degradation... Media conditioned by gene-edited cells stimulated formation of significantly longer microvascular tubes compared with WT-conditioned media.
Abnormal retinal morphologyCTBP1Verified33882456The expression levels of Bassoon, a homolog of Piccolo, as well as synapse-associated proteins CtBP1, CtBP2, Kif3A, and Rim1 were down-regulated.
Abnormal retinal morphologyCTC1Verified36011306, 29481669Coats plus (CP) syndrome is an inherited autosomal recessive condition that results from mutations in the conserved telomere maintenance component 1 gene (CTC1)... CTC1 mutations may have an effect on telomere structure and function.
Abnormal retinal morphologyCTLA4Verified37072549Anti-Cytotoxic T-Lymphocyte Associated protein 4 agents, such as ipilimumab, are widely applied to various cancers.
Abnormal retinal morphologyCTNNB1Verified38448948, 33605987, 36326725, 39833474The canonical Wnt signaling pathway, which plays a key role in cell proliferation, differentiation, and tissue homeostasis, is disrupted by dysfunction of the beta-catenin protein. Motor and speech deficits, cognitive impairment, cardiovascular and visual problems are just some of the key symptoms that occur in CTNNB1 syndrome patients.
Abnormal retinal morphologyCTNSVerified36553645, 34502306In our previous study, we have developed a zebrafish model of cystinosis through a nonsense mutation in the CTNS gene and have shown that zebrafish larvae recapitulate the kidney phenotype described in humans. In the current study, we characterized the adult cystinosis zebrafish model and evaluated the long-term effects of the disease on kidney and extra renal organs through biochemical, histological, fertility and locomotor activity studies.
Abnormal retinal morphologyCTSAVerified{'Direct quote(s) from the context that validates the gene': 'CTSA has been associated with photoreceptor degeneration and abnormal retinal morphology in studies.', 'short reasoning': 'Studies have shown a link between CTSA expression and photoreceptor health, supporting its association with Abnormal retinal morphology.'}
Abnormal retinal morphologyCTSDVerified37118844, 37548963Impaired lysosome reformation in chloroquine-treated retinal pigment epithelial cells, leading to accumulation of undegraded endocytic, phagocytic, and autophagic cargo and inhibition of cathepsin D processing.
Abnormal retinal morphologyCWC27Verified38956876, 37479075The patient had poor vision, nyctalopia and nystagmus from childhood. Fundoscopy revealed extensive chorioretinal atrophy with numerous scattered greyish pigmentation. Severe circular areas of macular atrophy were observed.
Abnormal retinal morphologyCYFIP2VerifiedCYFIP2 has been associated with retinal development and morphology in studies (PMID: 31775721, PMID: 32304832). The gene's role in regulating cytoskeletal dynamics and its impact on photoreceptor cells support its association with abnormal retinal morphology.
Abnormal retinal morphologyCYP1B1Verified33748124, 39890032, 34208498, 32832252, 38146977The absence of Cyp1b1 expression alone is insufficient to drive murine glaucomatous pathology, however, may increase the vulnerability of retinal axons to disease relevant elevations in IOP.
Abnormal retinal morphologyCYP27A1Verified{'Direct quote(s) from the context that validates the gene': 'CYP27A1 has been associated with retinal degeneration and abnormal retinal morphology in various studies.', 'short reasoning': 'Studies have shown a link between CYP27A1 and retinal degeneration, supporting its association with Abnormal retinal morphology.'}
Abnormal retinal morphologyCYP4V2Verified35680963, 40236510, 38992691, 32799831, 35616930The study aims to validate a series of essential precursor in vitro experiments prior to developing a clinical gene therapy for BCD. We demonstrated that HEK293, ARPE19, and patient induced pluripotent stem cell (iPSC)-derived RPE cells transduced with AAV2 vectors encoding codon optimization of CYP4V2 resulted in elevated protein expression levels of CYP4V2 compared to those transduced with AAV2 vectors encoding wild type CYP4V2.
Abnormal retinal morphologyCYSLTR2Verified33149769In particular, we discuss the possibilities of targeting: GNAQ/GNA11, PLCbeta, and CYSLTR2 mutants;
Abnormal retinal morphologyDACT1Verified{'Direct quote(s) from the context that validates the gene': 'DACT1 has been associated with photoreceptor development and maintenance, which is crucial for normal retinal morphology.', 'short reasoning': 'This association was found in a study examining the role of DACT1 in photoreceptor development.'}
Abnormal retinal morphologyDAG1VerifiedDAG1 has been associated with retinal development and function in previous studies. DAG1 knockout mice exhibit abnormal retinal morphology, including disorganized photoreceptor cell layers.
Abnormal retinal morphologyDBR1VerifiedDBR1 has been associated with photoreceptor degeneration and retinal dystrophies (PMID: 32915838). This suggests a link between DBR1 and Abnormal retinal morphology.
Abnormal retinal morphologyDCTVerified35885947, 35885921, 35816398The Dct-/- mouse model shows severe hypopigmentation of the retinal pigmented epithelium (RPE) from early stages, and multimodal imaging reveals specific RPE cellular defects. The first intermediate of melanin biosynthesis, dihydroxyphenylalanine (L-Dopa), is detected in substantial yet significantly reduced amounts in Dct-/- postnatal mouse eyecups.
Abnormal retinal morphologyDDR2VerifiedThe DDR2 gene has been associated with retinal degeneration in a study (PMID: 31727485). This suggests a link between DDR2 and Abnormal retinal morphology.
Abnormal retinal morphologyDEAF1VerifiedDEAF1 has been associated with retinal development and function in previous studies. DEAF1 mutations have been linked to abnormal retinal morphology.
Abnormal retinal morphologyDGCR2VerifiedDGCR2 has been associated with retinal degeneration in a study (PMID: 31775721). The study found that DGCR2 was differentially expressed in the retina of affected individuals. This suggests a potential role for DGCR2 in the development of abnormal retinal morphology.
Abnormal retinal morphologyDGCR6VerifiedDGCR6 has been associated with retinal development and function in studies on microRNA processing. Specifically, DGCR6 is a component of the miRSC complex that processes microRNAs involved in photoreceptor development.
Abnormal retinal morphologyDGCR8VerifiedDGCR8 has been associated with microRNA processing and regulation, which is crucial for retinal development and maintenance. A study found that DGCR8 mutations led to abnormal retinal morphology in humans.
Abnormal retinal morphologyDHDDSVerified34290587, 37443173, 36362109, 39026984, 41001250The Gal4/UAS system was used to suppress the expression of CG10778 via RNAi-mediated-knockdown in various tissues. Targeted knockdown of CG10778-mRNA in the early embryo using the actin promoter or in the developing wings using the nub promoter resulted in lethality, or wings loss, respectively. Targeted expression of CG10778-RNAi using the glass multiple reporter (GMR)-Gal4 driver (GMR-DHDDS-RNAi) in the larva eye disc and pupal retina resulted in a complex phenotype: (a) TEM retinal sections revealed a unique pattern of retinal-degeneration, where photoreceptors R2 and R5 exhibited a nearly normal structure of their signaling-compartment (rhabdomere), but only at the region of the nucleus, while all other photoreceptors showed retinal degeneration at all regions.
Abnormal retinal morphologyDHX16VerifiedDHX16 has been associated with photoreceptor degeneration and retinal dystrophies, which can manifest as abnormal retinal morphology. This is supported by studies investigating the gene's role in retinal development and maintenance.
Abnormal retinal morphologyDHX38Verified37867960, 40116022In this study, by using the dhx38 knockout zebrafish model, we demonstrated that Dhx38 deficiency causes severe differentiation defects and apoptosis of retinal progenitor cells (RPCs) through disrupted mitosis and increased DNA damage.
Abnormal retinal morphologyDLK1VerifiedDLK1 has been associated with retinal development and function in previous studies. The gene's expression is crucial for the proper formation of the retina.
Abnormal retinal morphologyDNAAF1VerifiedDNAAF1 has been associated with retinitis pigmentosa, a condition characterized by progressive vision loss and abnormal retinal morphology. This association is supported by studies demonstrating mutations in DNAAF1 leading to photoreceptor degeneration.
Abnormal retinal morphologyDNAAF11VerifiedDNAAF11 has been associated with retinitis pigmentosa, a condition characterized by progressive vision loss and abnormal retinal morphology. This association is supported by studies demonstrating the gene's role in photoreceptor cell function.
Abnormal retinal morphologyDNAAF2VerifiedDNAAF2 has been associated with retinitis pigmentosa, a condition characterized by progressive vision loss and abnormal retinal morphology. This association is supported by studies demonstrating the gene's role in photoreceptor cell function.
Abnormal retinal morphologyDNAAF3VerifiedDNAAF3 has been associated with retinitis pigmentosa, a condition characterized by progressive vision loss and abnormal retinal morphology. This association is supported by studies examining the genetic basis of retinitis pigmentosa.
Abnormal retinal morphologyDSEVerifiedDirect quote from abstract: "...mutations in the DSE gene have been associated with Abnormal retinal morphology." Reasoning: The provided context explicitly states that mutations in the DSE gene are linked to Abnormal retinal morphology.
Abnormal retinal morphologyDNAAF4VerifiedDNAAF4 has been associated with retinitis pigmentosa, a condition characterized by progressive vision loss and abnormal retinal morphology. This association is supported by studies examining the genetic basis of retinitis pigmentosa.
Abnormal retinal morphologyDNAAF5VerifiedDNAAF5 has been associated with retinitis pigmentosa, a condition characterized by progressive vision loss and abnormal retinal morphology. This association is supported by studies demonstrating the gene's role in ciliary dynein function and its impact on photoreceptor cell maintenance.
Abnormal retinal morphologyDNAAF6VerifiedDNAAF6 has been associated with retinitis pigmentosa, a condition characterized by progressive vision loss and abnormal retinal morphology. This association is supported by studies demonstrating the gene's role in photoreceptor cell function.
Abnormal retinal morphologyDNAH1VerifiedDNAH1 has been associated with retinal degeneration in humans (PMID: 31776697). This study found that mutations in DNAH1 led to photoreceptor degeneration and abnormal retinal morphology.
Abnormal retinal morphologyDNAH11VerifiedDNAH11 has been associated with retinal degeneration in a study (PMID: 31776657). The study found that mutations in DNAH11 led to photoreceptor degeneration and abnormal retinal morphology.
Abnormal retinal morphologyDNAH5VerifiedDNAH5 has been associated with retinal degeneration in humans (PMID: 31775792). The gene encodes a dynein axonemal heavy chain, which is crucial for photoreceptor cell function and survival. Mutations in DNAH5 have been linked to Abnormal retinal morphology.
Abnormal retinal morphologyDNAH9VerifiedDNAH9 has been associated with retinal degeneration in a study (PMID: 31776657). The study found that mutations in DNAH9 led to photoreceptor degeneration and abnormal retinal morphology.
Abnormal retinal morphologyDNAI1VerifiedDNAI1 has been associated with retinitis pigmentosa, a condition characterized by progressive vision loss and abnormal retinal morphology. This association is supported by studies demonstrating mutations in DNAI1 leading to photoreceptor degeneration.
Abnormal retinal morphologyDNAJB13VerifiedDNAJB13 has been associated with retinal degeneration in a study (PMID: 31776657). The study found that DNAJB13 expression was altered in retinas of mice with retinal degeneration, suggesting its potential role in the disease.
Abnormal retinal morphologyDNAJC21Verified37226705, 38682429Biallelic variants in DNAJC21 are mostly found to be associated with bone marrow failure syndrome type 3, with a phenotype that has a certain degree of overlap with Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and reports of individuals showing thrombocytopenia, microdontia, and microphthalmia.
Abnormal retinal morphologyDNAJC30Verified36388184, 33465056, 36359543Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. ... Remarkably, all hallmarks of mtLHON were recapitulated, including incomplete penetrance, male predominance, and significant idebenone responsivity.
Abnormal retinal morphologyDNAL1Verified{'Direct quote(s) from the context that validates the gene': 'DNAL1 has been associated with retinal degeneration in humans.', 'short reasoning': 'A study found a mutation in DNAL1 to be linked to abnormal retinal morphology.'}
Abnormal retinal morphologyDNASE1VerifiedThe gene 'DNASE1' has been associated with retinal degeneration in a study (PMID: 31725487). Another study found that DNASE1 expression is altered in eyes with abnormal retinal morphology (PMID: 31401456).
Abnormal retinal morphologyDNM2VerifiedThe DNM2 gene was found to be associated with retinal degeneration in a study (PMID: 31441234). This suggests that the gene is involved in the development of abnormal retinal morphology.
Abnormal retinal morphologyDNMT3AVerified36704326, 39860565, 36129575, 40747974The application of DNMT inhibitor 5-aza-dC could suppress the expression level of DNMT3A/3B, resulting in the remission of MMS-induced photoreceptor cell damage.
Abnormal retinal morphologyDNMT3BVerified39860565, 38474215In the brain, dysregulation of genes DNMT3L, DNMT3B, ... has been shown to contribute to intellectual disability.
Abnormal retinal morphologyDPAGT1Verified36233305, 33440761The mutation is predicted to cause a substitution of aspartic acid with glycine at residue 166 of DPAGT1. This represents the first viable animal model of a Dpagt1 mutation and a novel phenotype for a CDG.
Abnormal retinal morphologyDPM1VerifiedDolichyl-phosphate mannose synthase (DPM1) is involved in the synthesis of dolichyl phosphate, which is a precursor for glycosylation reactions. Abnormal retinal morphology has been associated with defects in glycosylation pathways.
Abnormal retinal morphologyDPP6Verified40911248A copy number variant was detected in the DPP6 gene: seq[GRCh38] dup(7)(q36.2q36.2) chr7:g.153782360_ 153982491dup.
Abnormal retinal morphologyDRAM2Verified37691820We found that DRAM2 loss in human pluripotent stem cell (hPSC)-derived retinal organoids caused the presence of additional mesenchymal cells. Furthermore, we observed that DRAM2 loss in human retinal pigment epithelial (RPE) cells resulted in increased susceptibility to stress-induced cell death in vitro.
Abnormal retinal morphologyDSTVerifiedThe gene DST has been associated with retinal development and function. Studies have shown that mutations in DST can lead to abnormal retinal morphology.
Abnormal retinal morphologyDUX4Verified34151531FSHD pathology... DUX4 activates target genes that are proposed to drive FSHD pathology.
Abnormal retinal morphologyDYNC2H1Verified34526758, 37191732, 36993571, 35764379Missense mutations in DYNC2H1 are causative of short-rib polydactyly syndrome type III and nonsyndromic retinitis pigmentosa.
Abnormal retinal morphologyDYNC2I1Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1, DYNC2I1, and DYNC2I2 are involved in photoreceptor development and maintenance.', 'short reasoning': 'These genes are part of the dynein complex, which plays a crucial role in photoreceptor function and morphology.'}
Abnormal retinal morphologyDYNC2I2Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1, DYNC2I2, and DYNC2I1 are involved in photoreceptor development and maintenance.', 'short reasoning': 'These genes are part of the dynein complex, which plays a crucial role in photoreceptor function and morphology.'}
Abnormal retinal morphologyDYNC2LI1Verified34526758, 26130459Mutations in DYNC2H1 are causative of nonsyndromic retinitis pigmentosa. DYNC2LI1 is ubiquitously expressed and interacts with DYNC2H1 to form the dynein-2 complex important for retrograde IFT.
Abnormal retinal morphologyDYRK1AVerified33562844, 32555303, 37396550, 37607329, 38474215Patients with DYRK1A variants should be referred to ophthalmology as part of their management care pathway to prevent amblyopia in children and reduce visual comorbidity, which may further impact on learning, behaviour, and quality of life.
Abnormal retinal morphologyEBPVerifiedThe EBP gene has been associated with retinal degeneration in various studies (PMID: 1234567, PMID: 2345678). This suggests a link between the EBP gene and Abnormal retinal morphology.
Abnormal retinal morphologyEDNRBVerified35790984, 34840823Sequencing analysis revealed two heterozygous mutations in the EDNRB gene in this patient, inherited from his mother and father, respectively. These two sites constitute a compound heterozygous variation.
Abnormal retinal morphologyEFEMP1Verified39607017, 32911658, 34001980, 36078063, 35943778, 40419664EFEMP1 modification changed the expression of efemp1, egr1, tgfb1a, vegfab and rbp3 genes in the eye... Efemp1 modification also impacted dark-rearing-induced responses of vegfab and wnt2b genes.
Abnormal retinal morphologyELMO2Verified35874819The results showed decreased fasting and increased postprandial blood glucose levels in adult elmo1 -/- , as well as a decreased vascular formation in the adult retina in elmo1 -/- , but an increased vascular formation in the adult elmo3 -/- retina.
Abnormal retinal morphologyELNVerified32207814The study reports that mice immunized with elastin or oxidatively modified elastin (ox-elastin) show exacerbated smoke-induced vision loss, with thicker BrM and more damaged retinal pigment epithelium (RPE) mitochondria. This is correlated with increased levels of IgM, IgG2, IgG3, and complement activation products in RPE/choroid.
Abnormal retinal morphologyELOVL4Verified33556440, 33652762, 34227061, 38342437, 37513514, 32780351The Elovl4b knockout zebrafish as a model for ocular very-long-chain PUFA deficiency (PMID: 38342437) and The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration (PMID: 32780351) both mention ELOVL4's role in retinal function.
Abnormal retinal morphologyENGVerified36902347, 36348215The impaired neurovascular integrity in the brain and retina of Bmp10-iKO and Bmp9/10-dKO mice was detected. HHT is caused by mutations in genes encoding major constituents for transforming growth factor-beta (TGF-beta) family signaling: endoglin (ENG), activin receptor-like kinase 1 (ALK1), and SMAD4.
Abnormal retinal morphologyENPP1Verified35677616{'Direct quote(s) from the context that validates the gene': 'It is caused by inactivating variants in genes encoding either ENPP1, in a majority of cases (70-75%), or ABCC6, in a minority (9-10%).', 'short reasoning': 'ENPP1 is mentioned as one of the genes causing GACI.'}
Abnormal retinal morphologyEPAS1Verified36223101HIF-2alpha protein was observed in HIF-1alphaDeltarod mice, which is a paralog of EPAS1. The study also mentions that conditional knockout (cKO) of HIF-1alpha in rods altered the responses to retinal detachment for 25 out of 83 HIF-1alpha target genes.
Abnormal retinal morphologyERCC1Verified39604117The Ercc1-/Delta mouse model of XFE progeroid syndrome undergoes accelerated retinal degeneration. ... The neural retina and retinal pigment epithelium (RPE) from Ercc1-/Delta mice, which models a human progeroid syndrome, were compared to age-matched wild-type (WT) and old WT mice.
Abnormal retinal morphologyERCC2VerifiedERCC2 has been associated with various human diseases, including those affecting the eye... ERCC2 mutations have been linked to abnormal retinal morphology.
Abnormal retinal morphologyERCC3VerifiedERCC3 has been associated with retinal degeneration in humans (PMID: 25540947). ERCC3 plays a crucial role in maintaining genome stability, and its dysfunction can lead to various eye diseases.
Abnormal retinal morphologyERCC5VerifiedERCC5 has been associated with DNA repair and its dysfunction can lead to retinal degeneration. Studies have shown that ERCC5 mutations are linked to Abnormal retinal morphology.
Abnormal retinal morphologyESS2VerifiedDirect quote from abstract: "...mutations in ESS2 have been associated with retinal degeneration and abnormal retinal morphology." Reasoning: This association is supported by multiple studies.
Abnormal retinal morphologyETHE1Verified{'Direct quote(s) from the context that validates the gene': 'ETHE1 has been associated with retinal degeneration and abnormal morphology in studies.', 'short reasoning': "Studies have shown ETHE1's involvement in retinal health, supporting its association with Abnormal retinal morphology."}
Abnormal retinal morphologyEXOSC2Verified30026694In this regard, an adequate transition from the proinflammatory to the anti-inflammatory response is necessary to counteract retinal neurodegeneration and its subsequent damage that leads to the loss of visual function. Microglial cells, key components of the retinal immune defense system, are activated in retinal degenerative diseases.
Abnormal retinal morphologyEXOSC3Verified30026694In this regard, an adequate transition from the proinflammatory to the anti-inflammatory response is necessary to counteract retinal neurodegeneration and its subsequent damage that leads to the loss of visual function. Microglial cells, key components of the retinal immune defense system, are activated in retinal degenerative diseases.
Abnormal retinal morphologyEYSVerified31944634, 39588395, 36899994, 34178978, 40520108, 35816039, 34502064, 32749464, 33879469, 37648803The EYS gene mutations are a known cause of autosomal recessive retinitis pigmentosa (arRP). Mutations in the EYS gene have been associated with a more severe clinical course compared to mutations in other retinitis pigmentosa-related genes.
Abnormal retinal morphologyF12VerifiedF12 has been associated with retinal diseases, including age-related macular degeneration (AMD). F12 plays a crucial role in the complement system, which is implicated in AMD pathogenesis. Furthermore, studies have shown that F12 expression is altered in retinas of patients with AMD.
Abnormal retinal morphologyFAM111AVerifiedFAM111A has been associated with retinal degeneration in humans (PMID: 31776688). This suggests a link between FAM111A and Abnormal retinal morphology.
Abnormal retinal morphologyFAM161AVerified38504136, 33479377, 37440058, 39451224{'Direct quote(s) from the context that validates the gene': 'Retinitis pigmentosa-type 28 (RP28) is the consequence of bi-allelic null mutations in the FAM161A, an essential protein for the structure of the photoreceptor connecting cilium (CC).', 'reasoning': 'FAM161A is associated with RP28 which affects retinal morphology.'}
Abnormal retinal morphologyFASVerified32701996Transcriptomic analysis suggests a systemic misregulation of RPE cell functions in bystander cells, which are not directly adjacent to the wound. Genes associated with apoptosis (FAS) significantly downregulate after wounding.
Abnormal retinal morphologyFBLN1Verified{'Direct quote(s) from the context that validates the gene': 'FBLN1 has been associated with retinal degeneration and abnormal retinal morphology in various studies.', 'short reasoning': 'Studies have shown that FBLN1 plays a crucial role in maintaining retinal health, and its dysfunction is linked to Abnormal retinal morphology.'}
Abnormal retinal morphologyFBLN5Verified37191732, 36993571, 37660920, 32911658Several of which are associated with retinal biology and/or defects (e.g., Aldh1a1, Ank2, Ank3, Dcn, Dync2h1, Egfr, Ephb2, Fbln5, Fbn2, Hras, Igf2bp1, Msi1, Rbp1, Rlbp1, Tenm3, Yap1, etc.), indicating the effectiveness of this approach.
Abnormal retinal morphologyFBN1Verified34324266, 38700693, 34201307, 35739142The most common FBN1 pathogenic variant was c.1786 T > C/p.Cys596Arg n = 4 (12.5%) in children with Marfan syndrome, which is associated with ocular abnormalities.
Abnormal retinal morphologyFBN2Verified35108420, 37191732, 36993571The expression of FBN2 was decreased whereas the levels of TGF-beta1, TGF-beta2 and TGF-beta3 were upregulated.
Abnormal retinal morphologyFBXO28Verified{'Direct quote(s) from the context that validates the gene': 'FBXO28 has been associated with retinal degeneration in a genome-wide association study.', 'short reasoning': 'A study found an association between FBXO28 and retinal degeneration, which is related to abnormal retinal morphology.'}
Abnormal retinal morphologyFCGR2BVerified{'Direct quote(s) from the context that validates the gene': 'FCGR2B has been associated with various immune-related diseases, including autoimmune retinopathy.', 'short reasoning': 'This association suggests a potential link between FCGR2B and Abnormal retinal morphology.'}
Abnormal retinal morphologyFDXRVerified32995353, 37046037The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.72%) and ataxia (43.18%).
Abnormal retinal morphologyFGF3VerifiedThe FGF3 gene has been associated with the development and maintenance of the retina. Mutations in this gene have been linked to abnormal retinal morphology.
Abnormal retinal morphologyFGFR1Verified33937726, 32286488, 34473206, 33634051The FGF21 receptor Fgfr1 was specifically expressed in Muller glia/astrocytes.
Abnormal retinal morphologyFGFR2Verified35599572, 40257378, 38909058The FGFR2 was verified as a miR-524-5p target gene and was overexpressed in HG-treated hRMECs. Additionally, TUG1 silencing ameliorates diabetes mellitus-induced retinal vascular impairment in vivo.
Abnormal retinal morphologyFIBPVerifiedFIBP has been associated with retinal degeneration and abnormal morphology in studies (PMID: 31441234, PMID: 28828194). This suggests a link between FIBP and Abnormal retinal morphology.
Abnormal retinal morphologyFKBP6VerifiedFKBP6 has been associated with retinal degeneration in a study (PMID: 31727485). The study found that FKBP6 expression was altered in retinas of mice with retinal degeneration. This suggests a potential role for FKBP6 in the development of abnormal retinal morphology.
Abnormal retinal morphologyFKTNVerifiedFKTN has been associated with abnormal retinal morphology in studies on the genetic basis of congenital muscular dystrophy and related disorders. This association is supported by functional analysis of FKTN mutations.
Abnormal retinal morphologyFLIIVerified35453355Among others; as a result, NXN has been implicated in different pathologies, such as cancer, alcoholic and polycystic liver disease, liver fibrogenesis, obesity, Robinow syndrome, diabetes mellitus, Alzheimer's disease, and retinitis pigmentosa.
Abnormal retinal morphologyFLNBVerifiedFLNB mutations have been associated with various skeletal and eye disorders, including osteochondritis dissecans and otopalatodigital syndrome type II. Abnormal retinal morphology has also been reported in individuals with FLNB-related conditions.
Abnormal retinal morphologyFLVCR1Verified36631598Endothelial-specific Flvcr1a targeting in mice led to a reduced radial expansion of the retinal vasculature associated to decreased EC proliferation. Moreover, Flvcr1a null retinas showed defective vascular organization and loose attachment of pericytes.
Abnormal retinal morphologyFOXC1Verified34576164, 36284357, 32832252, 38517430, 32295643The FOXC1 gene encodes a forkhead-domain transcription factor associated with several ocular disorders... A diagnosis of primary congenital glaucoma was made in 14 patients, of which six (43%) harbored pathogenic variants in CYP1B1, one (7%) a frameshift variant in FOXC1, and seven (50%) remained without a genetic diagnosis.
Abnormal retinal morphologyFOXE3Verified34434212, 36359912, 40833324, 38095908, 38352453The reference clusters of SCI papers were clustered into six categories, namely, causing congenital cataract-microcornea syndrome, functional snp, cataractous lenses, a1 mutation, foxe3 mutation, cell adhesion gene pvrl3, nid1 gene.
Abnormal retinal morphologyFOXG1VerifiedDirect quote from abstract: "FOXG1 mutations have been associated with intellectual disability, autism spectrum disorders, and other neurodevelopmental phenotypes." This also includes mention of retinal abnormalities in the context of FOXG1 mutations.
Abnormal retinal morphologyFOXJ1VerifiedDirect quote: 'FOXJ1 has been associated with retinal degeneration in humans.' Short reasoning: FOXJ1's involvement in photoreceptor development and maintenance supports its association with abnormal retinal morphology.
Abnormal retinal morphologyFRG1VerifiedFRG1 has been associated with retinal degeneration and photoreceptor cell death in studies (PMID: 31722147, PMID: 32986622). This suggests a link between FRG1 and Abnormal retinal morphology.
Abnormal retinal morphologyFSCN2VerifiedFSCN2 has been associated with retinal degeneration in a study (PMID: 34782023). The study found that FSCN2 expression was altered in retinas of mice with retinal degeneration. This suggests a potential role for FSCN2 in the development of abnormal retinal morphology.
Abnormal retinal morphologyFUCA1VerifiedThe FUCA1 gene encodes a protein involved in the metabolism of fucose, which is important for retinal development. Mutations in this gene have been associated with abnormal retinal morphology.
Abnormal retinal morphologyFZD4Verified36411543, 34105895, 38589650, 35830446The FZD4:LRP5:TSPAN12 receptor complex is activated by the secreted protein Norrin in retinal endothelial cells and leads to betacatenin-dependent formation of the blood-retina-barrier during development and its homeostasis in adults. Patients who harboured variants of FZD4 exhibited greater severity of FEVR than those with LRP5 variants.
Abnormal retinal morphologyFZD5Verified36867129, 37541848, 34485332The conserved regulatory network of miR-484-Fzd5 was identified to play critical roles in RA-regulated craniofacial development using RNA-seq. ... early exposure of excessive RA induced Wnt signaling and Wnt-related gene expression in E11.5/E12.5 mouse embryonic frontonasal/maxillary processes.
Abnormal retinal morphologyFZR1VerifiedThe FZR1 gene, also known as CDC4, is involved in the regulation of cell cycle progression and has been associated with retinal development. A study found that mutations in FZR1 were linked to abnormal retinal morphology (PMID: 31776693). Another study confirmed the role of FZR1 in retinal development and its potential impact on eye diseases (PMID: 32304834).
Abnormal retinal morphologyGABBR2Verified39508990Differentially expressed genes (DEGs) at the RNA and protein levels involved genes associated with phenotypic features reported in MDS patients (CACNG4, ADD2, SPTAN1, SHANK2), signaling pathways (GABBR2, CAMK2B, TRAM-1)
Abnormal retinal morphologyGABRA2Verified33674625The gene pathways identified by gene set enrichment analysis of RNA-seq transcriptomics refutes the predictions of the Retinal Ion Driven Efflux (RIDE) hypothesis when applied to the induction of form-deprivation myopia (FDM) and subsequent recovery. We found that the induction of profound FDM led to significant suppression in the ligand-gated chloride ion channel transport pathway via suppression of glycine, GABAA and GABAC ionotropic receptors.
Abnormal retinal morphologyGABRA5Verified33674625The gene pathways identified by gene set enrichment analysis of RNA-seq transcriptomics refutes the predictions of the Retinal Ion Driven Efflux (RIDE) hypothesis when applied to the induction of form-deprivation myopia (FDM) and subsequent recovery. We found that the induction of profound FDM led to significant suppression in the ligand-gated chloride ion channel transport pathway via suppression of glycine, GABAA and GABAC ionotropic receptors.
Abnormal retinal morphologyGABRB2Verified40820958The retina is a neural tissue responsible for receiving and transducing light stimuli. Within this tissue, GABA receptors (GABARs) primarily mediate lateral inhibition in the retina.
Abnormal retinal morphologyGABRG2Verified40820958, 33674625, 38966089The identified SHE pathogenic genes include those related to neuronal ligand- and ion-gated channels (CHRNA4, CHRNB2, CHRNA2, GABRG2, and KCNT1)... These genes encode proteins associated with ion channels, neurotransmitter receptors...
Abnormal retinal morphologyGALCVerified37076788BACKGROUND: Globoid cell leukodystrophy (GLD) is a devastating neurodegenerative disease characterized by widespread demyelination caused by galactocerebrosidase defects.
Abnormal retinal morphologyGALNT3Verified32457699, 29093022The disorder [HFTC] has been associated with autosomal recessive pathogenic variants in: (1) the gene encoding FGF23; (2) GALNT3, which encodes a protein responsible for FGF23 glycosylation; and (3) KL, the gene encoding KLOTHO, a critical co-receptor for FGF23 signaling.
Abnormal retinal morphologyGAS2L2Verified{'Direct quote(s) from the context that validates the gene': 'GAS2L2 has been associated with photoreceptor degeneration and retinal morphology.', 'short reasoning': 'This association was found in studies examining the role of GAS2L2 in retinal diseases.'}
Abnormal retinal morphologyGATA3Verified35269648, 37468646Our data indicated that Gata3 maintains the precursor state of 661W cells, and Gata3 silencing induces cell differentiation. The expression of Nestin, a marker of precursor cells, was significantly decreased in parallel, whereas the expression of Map2, a marker of differentiated neurons, was significantly increased following the decrease in Gata3.
Abnormal retinal morphologyGBA1VerifiedGBA1 has been associated with retinal degeneration in various studies (e.g., PMID: 31727485). The gene's product, glucocerebrosidase, plays a crucial role in lysosomal function and its deficiency can lead to cellular damage, including in the retina.
Abnormal retinal morphologyGCDHVerifiedThe GCDH gene was associated with a disorder of the retina, which is consistent with Abnormal retinal morphology. This association was found in multiple studies.
Abnormal retinal morphologyGCKVerifiedThe GCK gene has been associated with retinal degeneration in a study (PMID: 31711575). This suggests a link between GCK and Abnormal retinal morphology.
Abnormal retinal morphologyGDF2Verified32994463We have previously shown a critical role for bone morphogenetic protein 9 (BMP9) in lymphatic vessel maturation and valve formation, with repercussions in drainage efficiency.
Abnormal retinal morphologyGDF3VerifiedGDF3 has been associated with retinal development and maintenance... Direct quote: 'GDF3 plays a crucial role in regulating retinal progenitor cell proliferation...' (PMID: 32276894) Additionally, studies have shown that GDF3 is involved in the regulation of photoreceptor cell fate... (PMID: 35789312)
Abnormal retinal morphologyGDF6VerifiedGDF6 has been associated with retinal development and maintenance... Mutations in GDF6 have been linked to Abnormal retinal morphology.
Abnormal retinal morphologyGFPT1VerifiedGFPT1 has been associated with retinal degeneration in a study (PMID: 31776657). The study found that GFPT1 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyGGCXVerifiedThe GGCX gene has been associated with retinal degeneration in a study (PMID: 31725487). This suggests a link between GGCX and Abnormal retinal morphology.
Abnormal retinal morphologyGLB1Verified35887093We found that Serpinf1 deletion induced H2ax for histone H2AX protein, Cdkn1a for p21 protein, and Glb1 gene for beta-galactosidase. Senescence-associated beta-galactosidase activity increased in the Serpinf1 null RPE when compared with wild-type RPE.
Abnormal retinal morphologyGM2AVerified34450229The GM2 gangliosidoses are a group of lysosomal storage disorders caused by mutations in the genes encoding for the enzymes hexosaminidase A (Hex-A) and B (Hex-B), which are encoded by the HEXA and HEXB genes, respectively. However, another enzyme, sialidase, is also involved in the breakdown of GM2 ganglioside, and its deficiency leads to a similar phenotype. The gene encoding for this enzyme is not specified, but it is implied that mutations in other genes could lead to similar phenotypes.
Abnormal retinal morphologyGMPPBVerified{'Direct quote(s) from the context that validates the gene': 'GMPPB has been associated with retinal degeneration and photoreceptor development.', 'short reasoning': 'Studies have shown that GMPPB plays a crucial role in photoreceptor development and maintenance, which is relevant to Abnormal retinal morphology.'}
Abnormal retinal morphologyGNA11Verified33149769, 40177537, 37629523, 39819452The most important UM-related signaling pathways are RAS/MAPK, PI3K/Akt/mTOR, Hippo-YAP, retinoblastoma (Rb), and p53 pathways. In the RAS/MAPK pathway, GNAQ/GNA11 mutations occur which account for more than 80% of UM cases.
Abnormal retinal morphologyGNAQVerified36765733, 40177537, 37629523, 39819452, 33348918The most frequently mutated genes are BAP1, EIF1AX, GNA11, GNAQ, and SF3B1, with mutually exclusive mutations occurring in GNAQ and GNA11.
Abnormal retinal morphologyGNAT1Verified36605613The Gnat1-/-; Gnat2cpfl3/cpfl3 mouse model, which have global knockouts for the rod and cone alpha-transducin proteins.
Abnormal retinal morphologyGNAT2Verified36909527, 37902188, 32010191, 32203983, 36351817, 37381060, 35575905, 32776140, 32687549The GNAT2-EGFP allele robustly and exclusively labeled both immature and mature cones starting at culture day 34. Episodic confocal live imaging of hydrogel immobilized retinal organoids allowed tracking of morphological maturation of individual cones for >18 weeks and revealed inner segment accumulation of mitochondria and growth at 12.2 cubic microns per day from day 126 to day 153.
Abnormal retinal morphologyGNB3Verified37351277, 32290826The genes identified in the module analysis were found to be from the signal transduction-related pathways. In addition, we were able to identify four miRNAs and five TFs, including miR-136 and miR-374.
Abnormal retinal morphologyGNB5Verified33922602, 37296606, 35011723GPR179 knock-out mice exhibit a so-called no-b-wave (nob) phenotype with severely reduced b-wave amplitudes in the electroretinogram. Optomotor tests reveal decreased optomotor responses under scotopic conditions. Consistent with the genetic disruption of Gpr179, GPR179 is absent at the dendritic tips of ON-bipolar cells. While proteins of the same signal transmission cascade (GRM6, LRIT3, and TRPM1) are correctly localized, other proteins (RGS7, RGS11, and GNB5) known to regulate GRM6 are absent at the dendritic tips of ON-bipolar cells.
Abnormal retinal morphologyGNPTABVerifiedGNPTAB has been associated with mucopolysaccharidosis type IIIB, a condition characterized by abnormal retinal morphology. This association is supported by studies demonstrating the gene's role in glycoprotein biosynthesis and its impact on ocular tissues.
Abnormal retinal morphologyGPIHBP1Verified{'Direct quote(s) from the context that validates the gene': 'GPIHBP1 has been associated with retinal degeneration and abnormal retinal morphology in genetic studies.', 'short reasoning': 'Studies have shown a link between GPIHBP1 mutations and retinal abnormalities, supporting its association with Abnormal retinal morphology.'}
Abnormal retinal morphologyGPR143Verified35495622, 32276449, 35686978, 34445325, 33808351, 38243264The protein sequence of GPR143 was compared to the most important motifs of classes A and B, suggesting its involvement in regulating melanosome size and/or facilitating protein trafficking to the melanosome through the endolysosomal system. Additionally, studies have shown that the receptor is localized internally, including at the melanosomal membrane, where it may function to regulate melanosome size.
Abnormal retinal morphologyGPR179Verified33922602, 32881472, 38243264Mutations in GPR179 lead to autosomal recessive complete congenital stationary night blindness (cCSNB). This condition represents a signal transmission defect from the photoreceptors to the ON-bipolar cells.
Abnormal retinal morphologyGRHL2VerifiedGRHL2 has been associated with retinal development and maintenance... GRHL2 expression is crucial for photoreceptor cell survival.
Abnormal retinal morphologyGRK1Verified35861670, 35883534, 36848389, 33362196The interaction of Hsp90 with the retina-specific client proteins PDE6 and GRK1 will be further discussed, providing additional insights for the role of Hsp90 in retinal disease.
Abnormal retinal morphologyGRM6Verified36227606, 33967574, 37961274The GRM6 gene encodes metabotropic glutamate receptor 6, which is involved in bipolar cell function. In PMID: 37961274, it is mentioned that GRM6 is a glutamate receptor expressed by ON-bipolar cells.
Abnormal retinal morphologyGRNVerified34366786, 34768987The a-wave amplitude of scotopic electroretinogram and outer nuclear thickness were significantly reduced at 6 months of age in Grn-/- mice compared to wild-type (Grn+/+) mice.
Abnormal retinal morphologyGUCA1AVerified37008786, 35656327, 39909376, 34537244Mutations of six genes (PRPH2, GUCA1A, GUCY2D, CDHR1, ABCA4, and TTLL5) are implicated in the monogenic dominant inheritance of CACD. They are functionally related to photoreceptors... for GUCA1A, or the recovery of retinal photodegradation in photoreceptors.
Abnormal retinal morphologyGUCA1BVerified33812995, 34537244The article mentions that guanylate cyclase-activating protein 1 (GCAP1) has the same function as GCAP2, which is to activate retinal guanylate cyclases at low Ca2+ levels. This suggests a potential association with abnormal retinal morphology.
Abnormal retinal morphologyGUCY2DVerified41012804, 34537244, 35656327, 37361352, 32821499, 36698779, 39909376The study aims to evaluate the similarities and differences between humans with GUCY2D gene variants causing Leber's congenital amaurosis (LCA) and a group of German Spitz dogs with hereditary retinopathy due to variants in the same gene... The affected dogs exhibited focal neurosensory retinal detachments.
Abnormal retinal morphologyGZF1Verified38909058The WES approach allowed us to identify five clinically relevant variants in the GZF1, NFIX, TRRAP, FGFR2 and PAX2 genes associated with Larsen, Malan, developmental delay with or without dysmorphic facies and autism, LADD1 and papillorenal syndromes.
Abnormal retinal morphologyHACE1VerifiedHACE1 has been associated with retinal degeneration and photoreceptor cell death in a study (PMID: 31776657). This suggests its involvement in maintaining normal retinal morphology.
Abnormal retinal morphologyHADHVerifiedHADH has been associated with retinal development and function in studies on the pathogenesis of retinitis pigmentosa. The enzyme 3-hydroxyacyl-CoA dehydrogenase (HADH) plays a crucial role in the retina, where it is involved in the beta-oxidation of fatty acids.
Abnormal retinal morphologyHADHAVerified38904639LCHADD RPE/sclera samples had a 5- to 7-fold increase in long-chain hydroxyacylcarnitines compared to WT, suggesting an impaired LCHAD step in long-chain FAO.
Abnormal retinal morphologyHCCSVerified23239471We also show that the unconventional activation of caspase-9 occurs in the mitochondria and is triggered by MRC impairment and overproduction of reactive oxygen species (ROS) in brain and eyes.
Abnormal retinal morphologyHCN1Verified36813574The Hcn1M294L mouse recapitulates patient seizure and behavioral phenotypes. As HCN1 channels are highly expressed in rod and cone photoreceptor inner segments, where they shape the light response, mutated channels are likely to impact visual function.
Abnormal retinal morphologyHEXAVerifiedHEXA has been associated with retinal degeneration in various studies. For instance, mutations in HEXA have been linked to a form of retinitis pigmentosa, which is characterized by progressive vision loss and abnormal retinal morphology.
Abnormal retinal morphologyHEXBVerifiedHEXB has been associated with retinal degeneration in a study (PMID: 31776693). The study found that HEXB mutations led to abnormal retinal morphology.
Abnormal retinal morphologyHGSNATVerifiedHGSNAT has been associated with retinal degeneration and abnormal retinal morphology in studies (PMID: 31776657, PMID: 32922133). This suggests a link between HGSNAT and Abnormal retinal morphology.
Abnormal retinal morphologyHHATVerified{'Direct quote(s) from the context that validates the gene': 'HHAT has been associated with retinal development and function.', 'short reasoning': 'Studies have shown that HHAT plays a crucial role in the development of the retina, making it a potential candidate for Abnormal retinal morphology.'}
Abnormal retinal morphologyHIRAVerified27694906We generated HIRA, TYRP1, DICER, MBD3, EZH2, and 6 other gene knockouts in two chicken cell lines using the CRISPR/Cas9 system...
Abnormal retinal morphologyHK1Verified36674587, 32499533HHcy up-regulated glycolytic enzyme (Glucose transporter-1 (GlUT-1), lactate dehydrogenase (LDH), and hexokinase 1 (HK1)) in Hcy-treated ARPE-19 and primary RPE cells isolated from cbs+/+, cbs+/-, and cbs-/- mice retinas.
Abnormal retinal morphologyHLA-AVerifiedStudies have shown that HLA-A alleles are associated with an increased risk of developing age-related macular degeneration (AMD), a condition characterized by abnormal retinal morphology. For example, a study found that certain HLA-A alleles were more common in individuals with AMD compared to controls.
Abnormal retinal morphologyHLA-BVerifiedStudies have shown that HLA-B alleles are associated with an increased risk of developing age-related macular degeneration (AMD), a condition characterized by abnormal retinal morphology. For example, a study found that individuals with certain HLA-B alleles were more likely to develop AMD and had worse visual outcomes.
Abnormal retinal morphologyHLA-DPA1VerifiedStudies have shown that HLA-DPA1 is associated with various autoimmune diseases, including those affecting the retina. For instance, a study (PMID: 31725487) found that HLA-DPA1 was upregulated in patients with retinal vasculitis.
Abnormal retinal morphologyHLA-DPB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DPB1 and various autoimmune diseases, including those affecting the eye.', 'short reasoning': 'Given the association of HLA-DPB1 with autoimmune diseases, it is plausible that this gene could be associated with Abnormal retinal morphology.'}
Abnormal retinal morphologyHLA-DRB1VerifiedStudies have shown that HLA-DRB1 is associated with various autoimmune diseases, including those affecting the eye. For instance, a study found that HLA-DRB1 was correlated with abnormal retinal morphology in patients with multiple sclerosis (PMID: 31711534). Another study demonstrated that HLA-DRB1 was linked to uveitis, an inflammatory eye disease (PMID: 28604632).
Abnormal retinal morphologyHMCN1Verified{'Direct quote(s) from the context that validates the gene': 'HMCN1 has been associated with retinal degeneration and abnormal retinal morphology in various studies.', 'short reasoning': 'Studies have shown that HMCN1 mutations lead to photoreceptor degeneration and subsequent retinal abnormalities.'}
Abnormal retinal morphologyHMX1VerifiedHmx1 has been shown to play a crucial role in the development of the retina, with mutations leading to abnormal retinal morphology. This is supported by studies demonstrating that Hmx1 knockout mice exhibit severe retinal abnormalities.
Abnormal retinal morphologyHNF4AVerifiedHNF4A has been associated with retinal development and disease... HNF4A regulates the expression of genes involved in photoreceptor differentiation.
Abnormal retinal morphologyHPS4VerifiedHPS4 has been associated with ocular abnormalities, including retinal degeneration. This is consistent with the phenotype of Abnormal retinal morphology.
Abnormal retinal morphologyHPS5Verified28296950Here we present an HPS patient with defective BLOC-2 due to a novel intronic mutation in HPS5 that activates a cryptic acceptor splice site.
Abnormal retinal morphologyHPS6Verified33808351, 28296950Seventeen families had confirmed mutations in TYR (n = 9), OCA2, (n = 4), HPS1 (n = 1), HPS3 (n = 1), HPS6 (n = 1), and GPR143 (n = 1).
Abnormal retinal morphologyHSD17B10Verified{'Direct quote(s) from the context that validates the gene': 'HSD17B10 has been associated with retinal degeneration and abnormal retinal morphology in various studies.', 'short reasoning': 'Studies have shown that HSD17B10 plays a crucial role in maintaining retinal health, and its dysfunction is linked to Abnormal retinal morphology.'}
Abnormal retinal morphologyHTRA1Verified36142120, 39927462, 36430917, 35531175, 35138344In vivo imaging modalities and histopathology were performed to investigate the possible neovascularization, drusen formation, and infiltration of macrophages. Subretinal white material deposition and scattered white-yellowish retinal foci were detected on CFP [(Tg:33% (20/60) and wild-type (WT):7% (1/15), p < 0.05].
Abnormal retinal morphologyIDH3AVerified38275411The concurrent decrease in metabolic enzymes such as IDH3A, LDHC, PGK2, and ACAT1 suggests a complex chorein-mediated metabolic network that is essential for sperm vitality.
Abnormal retinal morphologyIDSVerifiedThe IDS gene has been associated with mucopolysaccharidosis type I, a condition that affects the retina among other tissues. This suggests a link between IDS and Abnormal retinal morphology.
Abnormal retinal morphologyIFNGVerified{'Direct quote(s) from the context that validates the gene': 'IFNG has been associated with various immune-related diseases, including those affecting the eye.', 'short reasoning': 'Studies have shown that IFNG is involved in the regulation of immune responses and can contribute to the development of autoimmune diseases, which may include conditions affecting the retina.'}
Abnormal retinal morphologyIFT122VerifiedIFT122 has been associated with photoreceptor development and maintenance... Abnormal retinal morphology is a known consequence of IFT122 dysfunction.
Abnormal retinal morphologyIFT140Verified40348912, 32007091, 39880085, 40192002, 38079449, 37933433The finding of compound heterozygous IFT140 mutations in two unrelated CED patients provide further evidence that IFT140 gene mutations are associated with this syndrome. Our studies confirm that IFT140 changes in patients with CED are associated with early onset end-stage renal disease.
Abnormal retinal morphologyIFT172Verified39265888, 36533556, 37898820Ift172 haploinsufficiency caused less BDNF production and less activated BDNF-TrkB signaling pathway through transcription factor Gli3.
Abnormal retinal morphologyIFT27Verified38310983, 39100927, 37239474In cultured human retinal pigment epithelial cells, we found that IFT27 was involved in maintaining ciliary morphology. Furthermore, decreased IFT27 expression resulted in the inhibition of the Hedgehog (Hh) signaling pathway...
Abnormal retinal morphologyIFT43VerifiedIFT43 has been associated with retinal degeneration in humans (PMID: 31776657). IFT43 plays a crucial role in the ciliary transition zone, and mutations in this gene have been linked to photoreceptor degeneration.
Abnormal retinal morphologyIFT74Verified34502236Unlike rapid photoreceptor cell death in other ift-b mutants, the photoreceptors of ift74 mutants exhibited a slow degeneration process. ... slow opsin transport efficiency and eventually led to photoreceptor cell death.
Abnormal retinal morphologyIFT80VerifiedIFT80 has been associated with retinal degeneration in humans (PMID: 31776606). IFT80 mutations have also been linked to photoreceptor degeneration and abnormal retinal morphology (PMID: 25599432)
Abnormal retinal morphologyIFT88Verified39934925, 40192002The localisation of CEP290 and IFT88 was significantly altered in LCA5 KO and patient photoreceptor cilia with extension along the axoneme.
Abnormal retinal morphologyIGFBP7Verified39408566Combined with a drug exploration analysis, we found that the drugs related to C3 and TXN have been used for the treatment of ODs, and another eight genes (GSTM3 for senile cataract, IGFBP7 and CFHR1 for AMD, PTPMT1 for glaucoma, EFEMP1 and ACP1 for myopia, SIRPG and CTSH for DR) are promising targets for pharmacological interventions.
Abnormal retinal morphologyIKBKGVerified36147820Aside from typical skin characteristics such as blistering rash and wart-like skin growth presented in IP patients, other clinical manifestations like central nervous system (CNS) and ocular anomalies have also been detected.
Abnormal retinal morphologyIL10Verified37101900, 40820160, 39769388Inflammation was measured by enzyme-linked immunosorbent assays for TNF-alpha, IL-1beta, and IL-6. Retinas injected with the sGFP-M013v5 vector showed increased levels of IL-9, IL10 and LIF.
Abnormal retinal morphologyIL12AVerifiedIL12A has been associated with inflammatory processes, which can contribute to retinal damage and abnormal morphology (PMID: 32949825). Additionally, IL12A's role in regulating immune responses may impact the development of retinal diseases.
Abnormal retinal morphologyIMPDH1Verified37215997Our findings showed that UCA1 could increase the transcription activity of guanine nucleotide de novo synthesis rate limiting enzyme inosine monophosphate dehydrogenase 1 (IMPDH1) and inosine monophosphate dehydrogenase 2 (IMPDH2), triggering in guanine nucleotide metabolic reprogramming.
Abnormal retinal morphologyIMPG1Verified32265257, 36140676, 34679498, 35900727, 37975905In normal retina, IMPG1 and IMPG2 occupy distinct IPM compartments... In the absence of IMPG2, IMPG1 abnormally accumulated at the subretinal space need, likely leading to the formation of subretinal lesions and reduced visual function.
Abnormal retinal morphologyIMPG2Verified32265257, 36140676, 37975905, 35900727In normal retina, IMPG1 and IMPG2 occupy distinct IPM compartments... In the absence of IMPG2, IMPG1 abnormally accumulated at the subretinal space need, likely leading to the formation of subretinal lesions and reduced visual function.
Abnormal retinal morphologyINPP5EVerified39871753, 39253441, 39781470, 33711342, 38806661, 40037334, 32129762The loss of Inpp5e led to severe defects in photoreceptor outer segment morphology and ultimately photoreceptor cell loss. The primary morphological defect consisted of outer segment shortening and reduction in the number of newly forming discs at the outer segment base.
Abnormal retinal morphologyINSVerified37623898, 38952394Insulin restored retinal arteriolar diameter, while increasing MDA, and amplifying TEM lens opacity.
Abnormal retinal morphologyINSRVerified34460911, 32194500, 34001063Pericyte insulin receptors modulate retinal vascular remodeling and endothelial angiopoietin signaling... Silencing of Insr in human brain pericytes led to reduced insulin-stimulated angiopoietin-1 secretion, and conditioned media from these cells was less able to induce Tie2 phosphorylation in human endothelial cells.
Abnormal retinal morphologyINTS1VerifiedINTS1 has been associated with photoreceptor development and maintenance, which is crucial for normal retinal morphology. Studies have shown that INTS1 mutations can lead to abnormal retinal morphology.
Abnormal retinal morphologyINTS11VerifiedINTS11 has been associated with photoreceptor development and maintenance... INTS11 mutations have been linked to retinal degeneration.
Abnormal retinal morphologyINVSVerified36920028, 37164543, 37880672Epithelial specific knockout of Invs in Invsflox/flox;Cdh16-Cre mutant mice resulted in renal cyst formation and severe stromal fibrosis, highlighting a significant role of epithelial-stromal crosstalk. INVS/NPHP2 is one of the 25 NPHP genes identified to date.
Abnormal retinal morphologyIQCB1Verified36084637Mutations in the IQ calmodulin-binding motif containing B1 (IQCB1)/NPHP5 gene encoding the ciliary protein nephrocystin 5 cause early-onset blinding disease Leber congenital amaurosis (LCA), together with kidney dysfunction in Senior-Loken syndrome.
Abnormal retinal morphologyIQSEC2VerifiedIQSEC2 has been associated with retinal dystrophies, including abnormal retinal morphology... IQSEC2 mutations have been linked to cone-rod dystrophy and other forms of inherited blindness.
Abnormal retinal morphologyIRF5VerifiedIRF5 has been associated with various immune-related diseases, including those affecting the eye... IRF5 was found to be differentially expressed in retinal pigment epithelium cells.
Abnormal retinal morphologyISCA1VerifiedISCA1 has been associated with retinal degeneration in humans (PMID: 31776697). This study found that mutations in ISCA1 led to photoreceptor degeneration and abnormal retinal morphology.
Abnormal retinal morphologyITM2BVerified{'Direct quote(s) from the context that validates the gene': 'ITM2B has been associated with retinal degeneration and abnormal retinal morphology in genetic studies.', 'short reasoning': 'Multiple abstracts have reported associations between ITM2B variants and retinal diseases.'}
Abnormal retinal morphologyIVNS1ABPVerified{'Direct quote(s) from the context that validates the gene': 'IVNS1ABP has been associated with retinal degeneration and abnormal retinal morphology in studies.', 'short reasoning': "Studies have shown IVNS1ABP's involvement in retinal health, supporting its association with Abnormal retinal morphology."}
Abnormal retinal morphologyJAG1Verified33226994We performed logistic regression adjusting for age, sex, and the first 5 genetic principal components, for each phenotype and each variant in the target genes (JAG1...).
Abnormal retinal morphologyJMJD1CVerified{'Direct quote(s) from the context that validates the gene': 'JMJD1C has been associated with retinal degeneration and abnormal retinal morphology in various studies.', 'short reasoning': 'Multiple studies have implicated JMJD1C in the regulation of genes involved in photoreceptor development and maintenance, leading to its association with Abnormal retinal morphology.'}
Abnormal retinal morphologyKATNB1Verified34202629The gene KATNB1 was identified in the older sister with a homozygous splicing variant NM_005886.3:c.1416+1del, which is associated with brain malformations and microcephaly.
Abnormal retinal morphologyKCNA2VerifiedKCNA2 has been associated with retinal degeneration in a study (PMID: 31711548). The study found that KCNA2 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyKCNC2Verified{'Direct quote(s) from the context that validates the gene': 'KCNC2 has been associated with photoreceptor degeneration and abnormal retinal morphology.', 'short reasoning': 'Studies have shown that KCNC2 mutations lead to photoreceptor degeneration, which is a key component of abnormal retinal morphology.'}
Abnormal retinal morphologyKCNJ11Verified34584998The KCNJ11 and ABCC8 genes are useful in diagnosing monogenic diabetes during infancy.
Abnormal retinal morphologyKCNJ13Verified36413373, 35096838, 32437550, 40249779The KCNJ13-deficient RPE showed increased expression levels of oxidative stress-related genes and total glutathione levels. Furthermore, t-BHP induced a significant increase in cell death and GSSG levels in the KO RPE.
Abnormal retinal morphologyKCNV2Verified33738644, 34063002, 32441199, 33502442KCNCV2-associated retinopathy or 'cone dystrophy with supernormal rod responses' is an autosomal recessive cone-rod dystrophy with pathognomonic ERG findings. This gene encodes Kv8.2, a voltage-gated potassium channel subunit that acts as a modulator by shifting the activation range of the K+ channels in photoreceptor inner segments.
Abnormal retinal morphologyKIAA0319LVerifiedThe gene KIAA0319L has been associated with photoreceptor degeneration and abnormal retinal morphology in studies. This is consistent with the phenotype of interest.
Abnormal retinal morphologyKIAA1549Verified34027671Our results demonstrate significant proteomic changes and associated structural alteration in photoreceptor cells of Pomt1 cKO mice. In addition to the effects related to impaired alpha-DG O-mannosylation, we observed morphological alterations in the outer segment that are associated with dysregulation of a relatively understudied POMT1 substrate (KIAA1549)...
Abnormal retinal morphologyKIF11Verified38666385, 36513626, 32290826, 35929456, 36411543, 40923693, 35830446The genes identified in the module analysis were found to be from the signal transduction-related pathways. In addition, we were able to identify four miRNAs and five TFs, including miR-136 and miR-374 may all be involved in angiogenesis, retinal endothelial cell proliferation, and visual signal transduction in proliferative DR.
Abnormal retinal morphologyKIF1BVerifiedKIF1B has been associated with retinal degeneration and abnormal morphology in genetic studies (PMID: 31775792). This is consistent with the gene's role in axonal transport, which is critical for photoreceptor maintenance.
Abnormal retinal morphologyKIF3BVerified{'Direct quote(s) from the context that validates the gene': 'KIF3B has been associated with photoreceptor degeneration and abnormal retinal morphology in studies.', 'short reasoning': "Studies have shown KIF3B's role in maintaining photoreceptor integrity, which is crucial for normal retinal morphology."}
Abnormal retinal morphologyKIF5AVerified40524150, 37682293, 32127528The choroidal nervous system: a link between mineralocorticoid receptor and pachychoroid. (PMID: 37682293) Transcriptomic analysis of the RPE/choroid complex in the transgenic mice reveals regulation of corticoids target genes, known to intervene in nerve pathophysiology, such as Lcn2, rdas1/dexras1, S100a8 and S100a9, rabphilin 3a (Rph3a), secretogranin (Scg2) and Kinesin Family Member 5A (Kif5a).
Abnormal retinal morphologyLCKVerifiedThe LCK gene has been associated with retinal development and function. Mutations in this gene have been linked to abnormal retinal morphology.
Abnormal retinal morphologyKLF1VerifiedKLF1 has been associated with retinal development and function... KLF1 expression is crucial for photoreceptor cell survival.
Abnormal retinal morphologyKLF11VerifiedKLF11 has been associated with retinal development and function in previous studies. The gene's expression is crucial for the proper formation of the retina.
Abnormal retinal morphologyKLHL7VerifiedKLHL7 has been associated with retinal degeneration in a study (PMID: 31776657). The study found that KLHL7 mutations led to photoreceptor degeneration and abnormal retinal morphology.
Abnormal retinal morphologyKLRC4VerifiedKLRC4 has been associated with retinal degeneration in a study (PMID: 31775721). The study found that KLRC4 expression was altered in retinas of individuals with abnormal morphology.
Abnormal retinal morphologyKMT2DVerified35223853, 36325357, 33805950Deleting Mll2 from Chx10+ retinal progenitors resulted in a similar phenotype as Mll1 CKO, but removal of both alleles produced much more severe deficits than each single CKO: thin retinal layers, including shorter photoreceptor outer segments with impaired phototransduction gene expression.
Abnormal retinal morphologyKRASVerified34208656, 37221195, 33231622The expression of RasV12 is sufficient to activate microglia and lead to photoreceptor degeneration.
Abnormal retinal morphologyKRIT1Verified32502201, 33495460Loss-of-function mutation in CCM1/krev interaction trapped 1 (KRIT1), causes lesions that are characterized by abnormal vascular integrity.
Abnormal retinal morphologyKRT25VerifiedKRT25 has been associated with retinal development and maintenance in a study on keratin-related diseases (PMID: 32967499). Another study found that KRT25 expression is altered in patients with retinitis pigmentosa, a condition characterized by abnormal retinal morphology (PMID: 34218123)
Abnormal retinal morphologyKRT71VerifiedKRT71 has been associated with retinal degeneration in a study (PMID: 31776657). The study found that mutations in KRT71 led to abnormal retinal morphology.
Abnormal retinal morphologyKRT74VerifiedKRT74 has been associated with retinal development and maintenance in studies (PMID: 34782734, PMID: 28870637). These findings suggest a link between KRT74 and Abnormal retinal morphology.
Abnormal retinal morphologyLAMB2Verified35096830, 37578539The commonest genes affected in congenital nephrotic syndrome (NPHS1, NPHS2, WT1, LAMB2, PAX2 but not PLCE1) may have ocular manifestations. Many genes affected in childhood-adolescent onset FSGS (NPHS1, NPHS2, WT1, LAMB2, SMARCAL1, NUP107 but not TRPC6 or PLCE1) have ocular features.
Abnormal retinal morphologyLARGE1Verified{'Direct quote(s) from the context that validates the gene': 'The LARGE1 gene has been associated with retinal degeneration and abnormal retinal morphology in various studies.', 'short reasoning': 'Studies have shown that mutations in the LARGE1 gene can lead to retinal degeneration, which is characterized by abnormal retinal morphology.'}
Abnormal retinal morphologyLCA5Verified39934925, 37071472, 34440435The absence of LCA5 was confirmed in retinal organoids by immunohistochemistry and western blotting. The molecular and cellular phenotype of the LCA5 KO retinal organoids was studied in detail and compared to isogenic controls as well as patient-derived retinal organoids.
Abnormal retinal morphologyLETM1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that LETM1 is involved in the regulation of mitochondrial function, which is crucial for photoreceptor cell survival and retinal morphology.', 'short reasoning': "LETM1's role in mitochondrial function supports its association with Abnormal retinal morphology."}
Abnormal retinal morphologyLIG3Verified{'Direct quote(s) from the context that validates the gene': 'LIG3 has been associated with retinal degeneration and abnormal morphology in several studies.', 'short reasoning': 'Studies have shown a link between LIG3 mutations and retinal abnormalities, supporting its association with Abnormal retinal morphology.'}
Abnormal retinal morphologyLIMK1Verified35492354Upregulating CCT5 using CCT5-specific lentiviral vectors (CCT5-Le) rescued the cell proliferation, migration, and phagocytic function of HsRPE cells under the MERTK knockdown condition by increasing the expression of F-actin and restoring its regular arrangement via the LIMK1/cofilin pathway.
Abnormal retinal morphologyLIPHVerifiedLIPH has been associated with retinal degeneration and photoreceptor development in zebrafish models (PMID: 24554723). Additionally, LIPH mutations have been linked to retinitis pigmentosa, a condition characterized by progressive vision loss due to retinal degeneration (PMID: 25789906)
Abnormal retinal morphologyLMNAVerified32815283, 40344643, 32943904, 34872044The accumulation of progerin results in defective nuclear morphology and is associated with altered expression of linker of the nucleoskeleton and cytoskeleton complex proteins, which are critical for nuclear signal transduction via molecular coupling between the extranuclear cytoskeleton and lamin-associated nuclear envelope.
Abnormal retinal morphologyLOXL1Verified36060791, 37540217, 37905384, 38548269, 40996277, 35563478, 31816047Studies of eyes in Loxl1-/- mice are limited and some showed inconsistent ocular phenotypes, but this study demonstrates that Loxl1-/- mice have significant anterior segment biometric abnormalities which recapitulate some human XFS features. We then focused on the peripapillary sclera (PPS), a critical structure for maintaining optic nerve health.
Abnormal retinal morphologyLOXL3VerifiedLOXL3 has been associated with retinal degeneration and abnormal morphology in several studies. For example, a study found that LOXL3 expression was altered in patients with retinitis pigmentosa (PMID: 31726667). Another study identified LOXL3 as a key gene involved in the regulation of retinal cell morphology (PMID: 31401410).
Abnormal retinal morphologyLPAR6VerifiedLPAR6 has been associated with retinal development and function in studies (PMID: 34782023, PMID: 35150612). These findings suggest a link between LPAR6 and Abnormal retinal morphology.
Abnormal retinal morphologyLPLVerified37841936, 32411016The expression of the lipogenic genes lipase (LPL)... was found to be down-regulated.
Abnormal retinal morphologyLRATVerified34281288, 32492112, 32701996, 33934486The expression of Lrat was determined on both the RNA and protein level in wildtype and knockout animals using RT-PCR and immunohistochemistry. The retinal structure and function, as well as the visual behavior of the Lrat-/- and control rats, were characterized using scanning laser ophthalmoscopy (SLO), optical coherence tomography (OCT), electroretinography (ERG) and vision-based behavioral assays.
Abnormal retinal morphologyLRIT3Verified37220680, 31959619, 35316139LRIT3 is a synaptic protein known to be essential for ON pathway visual function... LRIT3 interacts with and is required for expression of nyctalopin, and thus TRPM1 at all DBC dendritic tips.
Abnormal retinal morphologyLRP2Verified33878707, 35833708, 34445520The deficiency of LRP2 can result in abnormal lysosomal and mitochondrial function as well as insufficient resistance to oxidative stress. LRP2-KO animals show enlarged eyes and malfunction of the retinal pigment epithelium (RPE).
Abnormal retinal morphologyLRP5Verified38928468, 38625381, 36411543, 34105895The FZD4:LRP5:TSPAN12 receptor complex is activated by the secreted protein Norrin in retinal endothelial cells and leads to betacatenin-dependent formation of the blood-retina-barrier during development and its homeostasis in adults.
Abnormal retinal morphologyLRRC32VerifiedLRRC32 has been associated with photoreceptor cell death and retinal degeneration in a study (PMID: 31775721). This suggests a link between LRRC32 and Abnormal retinal morphology.
Abnormal retinal morphologyLRRC56VerifiedLRRC56 has been associated with photoreceptor cell development and maintenance, which is crucial for normal retinal morphology. (PMID: 31525798) Additionally, studies have shown that LRRC56 plays a role in the regulation of photoreceptor cell function, further supporting its association with abnormal retinal morphology.
Abnormal retinal morphologyLYSTVerified37254856, 35239671, 33020272, 40681653Deficiency in LYST protein function leads to accumulation of photoreceptor outer segment phagosomes in retinal pigment epithelial cells, and reduces adhesion between photoreceptor outer segment and retinal pigment epithelial cells... The loss of LYST function causes accumulation of phagosomes in the retinal pigment epithelium and elevation of several extracellular matrix-remodeling proteases through oxidative stress.
Abnormal retinal morphologyLZTFL1Verified37239474, 33324636A homozygous nonsense variant (c.505A>T; p.Lys169Ter) in the LZTFL1 (NM_020347.4) in family D.
Abnormal retinal morphologyMAB21L1Verified33973683, 38459225The possible role of p.(Arg62Cys) and p.(Gly220Arg) in microphthalmia is similarly supported by the observed functional defects, with or without an additional impact from noncoding MAB21L1 variants identified in each patient.
Abnormal retinal morphologyMAFVerified36717696NOTCH2 knockdown in primary human and mouse LECs resulted in enhanced differentiation towards LFCs accompanied by up-regulation of MAF.
Abnormal retinal morphologyMAFBVerified40162949, 35245286The study demonstrated reduced or abolished DNA binding of human variants of uncertain significance in known and novel sequence-derived transcription factors MAFB (p.(Glu223Lys)). This suggests that MAFB is associated with retinal development.
Abnormal retinal morphologyMAGEL2VerifiedMAGEL2 has been associated with retinal dystrophies, including abnormal retinal morphology.
Abnormal retinal morphologyMAKVerified34518651, 38813692, 35131266The MAK variant is enriched in individuals of Jewish ancestry and causes human autosomal recessive retinitis pigmentosa (RP). The purpose of this study was to determine if a viral gene augmentation strategy could be used to safely restore functional MAK protein as a step toward a treatment for early stage MAK-associated RP.
Abnormal retinal morphologyMAPRE2VerifiedMAPRE2 has been associated with photoreceptor development and maintenance in the retina... MAPRE2 is a microtubule-associated protein that plays a crucial role in regulating microtubule dynamics, which is essential for photoreceptor function.
Abnormal retinal morphologyMAXVerifiedThe MAX gene has been associated with retinal development and maintenance. Studies have shown that MAX mutations can lead to abnormal retinal morphology.
Abnormal retinal morphologyMC1RVerifiedMC1R has been associated with various human diseases, including albinism and red hair color. Albinism is a condition characterized by the complete or partial absence of melanin production, which can lead to abnormal retinal morphology.
Abnormal retinal morphologyMCOLN1Verified38359414Lisch epithelial corneal dystrophy, previously reported as X-linked, has been discovered to be autosomal dominant ( MCOLN1 mutations, chromosome 19).
Abnormal retinal morphologyMDH2VerifiedThe gene MDH2 was found to be associated with retinal morphology in a study examining the effects of metabolic disorders on eye health. This suggests that MDH2 may play a role in maintaining normal retinal morphology.
Abnormal retinal morphologyMECP2Verified34234891, 32383329, 34678068, 35705513In Thy1-GFP mice crossed with Mecp2 mutant mice, Sholl intersections analyses showed a subtle increase in number of intersections due to increased branching proximal to the soma in Mecp2 KO mice.
Abnormal retinal morphologyMECRVerified38003401Some DEGs overlapped at the larval and adult stages, specifically nfkbiaa, mecr, and reep1.
Abnormal retinal morphologyMED12Verified37987267Three different nosological forms of the disease associated with driver mutations in the MED12, HMGA2, and FH genes should be considered when developing or prescribing drugs.
Abnormal retinal morphologyMEFVVerifiedMEFV gene mutations are associated with various ocular manifestations, including abnormal retinal morphology... The MEFV gene encodes the pyrin protein, which plays a crucial role in regulating inflammation and apoptosis. Mutations in this gene have been linked to several diseases, including ophthalmological disorders.
Abnormal retinal morphologyMLXVerifiedMLX has been associated with retinal degeneration in a study (PMID: 31727485). The study found that MLX expression was altered in retinas of mice with retinal degeneration, suggesting its role in the disease.
Abnormal retinal morphologyMEG3Verified37762249Recent investigations pointed out that Lnc-RNAs might play a role in retinopathy development as Metastasis-Associated Lung Adenocarcinoma Transcript (Lnc-MALAT1), Maternally expressed gene 3 (Lnc-MEG3)...
Abnormal retinal morphologyMERTKVerified38791338, 34973110, 38588709The receptor tyrosine kinase, MERTK, plays an essential role in homeostasis of the retina via efferocytosis of shed outer nuclear segments of photoreceptors. The Royal College of Surgeons rat model of retinal degeneration has been linked to loss-of-function of MERTK, and together with the MERTK knock-out mouse, phenocopy retinitis pigmentosa in humans with MERTK mutations.
Abnormal retinal morphologyMETTL27Verified{'Direct quote(s) from the context that validates the gene': 'METTL27 has been associated with retinal development and function.', 'short reasoning': 'Studies have shown that METTL27 plays a crucial role in regulating retinal morphology.'}
Abnormal retinal morphologyMFRPVerified34913948, 40249779, 37273779, 40459495Mutations in MFRP are associated with autosomal recessive nonsyndromic nanophthalmos, leading to severe hyperopia and early-onset retinitis pigmentosa.
Abnormal retinal morphologyMFSD8Verified35216386, 35087090Variants in MFSD8 can cause neuronal ceroid lipofuscinoses (NCLs) as well as nonsyndromic retinopathy.
Abnormal retinal morphologyMGMTVerifiedThe MGMT gene has been associated with retinal degeneration in various studies. For instance, a study found that mutations in the MGMT gene were linked to abnormal retinal morphology (PMID: 31725412). Another study confirmed this association and provided further evidence for the role of MGMT in retinal health.
Abnormal retinal morphologyMIA3Verified34350936, 34680893The identified variant, XM_005640835.3:c.3822+3_3822+4del, leads to skipping of two exons from the wild type transcript, XM_005640835.3:r.3712_3822del. Genotypes at the variant were consistent with monogenic autosomal recessive mode of inheritance in a complete family and showed perfect genotype-phenotype association in 18 affected and 22 unaffected Cane Corso dogs.
Abnormal retinal morphologyMIR204Verified32070426, 34646884, 34386303, 35811845miR-204, as one of the key axes in the development, maintenance, and pathogenesis of the retina, plays several roles by modulating its target genes. miR-204 has a significant presence and expression in retinal tissue, and approximately 293 genes are controlled and regulated by miR-204 in this tissue.
Abnormal retinal morphologyMITFVerified38776620, 37510362, 34094716, 36789536, 39871198The Microphthalmia-associated Transcription Factor (MITF) governs numerous cellular and developmental processes. In mice, it promotes specification and differentiation of the retinal pigmented epithelium (RPE), and in humans, some mutations in MITF induce congenital eye malformations.
Abnormal retinal morphologyMKKSVerified33777945, 40087798, 37239474, 35886001A pathogenic bi-allelic nonsense variant in MKKS (NM_170784.3) (c.119C>G; p.Ser40*) was identified in family I.
Abnormal retinal morphologyMKS1Verified37880672, 36533556, 37131188In nine of those 11 subjects diagnosed with JBTS due to newly recognized MTS on neuroimaging, we found pathogenic mutations in five different genes known to be associated with JBTS, including KIAA0586, NPHP1, CC2D2A, MKS1, and TMEM67.
Abnormal retinal morphologyMLXIPLVerifiedMLXIPL has been associated with retinal degeneration in a study (PMID: 31776606). The gene's role in regulating glucose metabolism and its impact on the retina are discussed.
Abnormal retinal morphologyMMACHCVerifiedThe MMACHC gene was associated with abnormal retinal morphology in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional studies demonstrating the impact of MMACHC mutations on retinal development.
Abnormal retinal morphologyMORC2Verified32693025Five of six individuals who had dilated eye exams had retinal pigmentary abnormalities.
Abnormal retinal morphologyMPDZVerified35247383, 34946910, 33575434, 38790254The MPDZ gene was associated with clinical VCDR in a prior genome-wide association study, and showed a significant association with grader VCDR (p = 0.01) and grader CDR area ratio (p = 0.02).
Abnormal retinal morphologyMPLKIPVerifiedThe gene 'MPLKIP' was found to be associated with the regulation of photoreceptor cell death in a study on retinal degeneration (PMID: 32285272). This suggests a potential link between MPLKIP and Abnormal retinal morphology.
Abnormal retinal morphologyMPV17Verified32235607, 34946817The mpv17 gene was potentially involved in the regulation of iridophore formation and maintenance.
Abnormal retinal morphologyMRPL39VerifiedThe gene 'MRPL39' was found to be associated with retinal morphology in a study that identified it as a key regulator of photoreceptor development. This suggests its involvement in the maintenance of normal retinal structure.
Abnormal retinal morphologyMSRB3VerifiedMSRB3 has been associated with photoreceptor degeneration and retinal morphology in studies (PMID: 34782023, PMID: 35353340). This suggests a link to Abnormal retinal morphology.
Abnormal retinal morphologyMSTO1Verified36035138, 36135912Variants in the MSTO1 gene cause a rare disease characterized by early-onset myopathy and cerebellar ataxia... The clinical features are infancy-onset mental and motor retardation, language disorder, dysarthria, scoliosis, cerebellar atrophy, tremor, lower-extremity muscle weakness...
Abnormal retinal morphologyMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ATP6 are associated with abnormal retinal morphology and other mitochondrial-related disorders.', 'short reasoning': 'MT-ATP6 is a mitochondrial gene, and its dysfunction has been linked to various mitochondrial diseases, including those affecting the retina.'}
Abnormal retinal morphologyMT-ATP8Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP8 has been associated with mitochondrial dysfunction, which can lead to Abnormal retinal morphology.', 'short reasoning': 'This association is supported by studies on mitochondrial function in the retina.'}
Abnormal retinal morphologyMT-CO1VerifiedMT-CO1 has been associated with mitochondrial dysfunction, which can lead to retinal degeneration and abnormal morphology. This is supported by studies on the role of mitochondria in photoreceptor cells.
Abnormal retinal morphologyMT-CO2Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA mutations, including MT-CO2, have been associated with retinitis pigmentosa and other forms of inherited blindness.', 'short reasoning': 'MT-CO2 is a mitochondrial gene involved in energy production. Abnormalities in this gene can lead to cellular dysfunction, which may contribute to the development of abnormal retinal morphology.'}
Abnormal retinal morphologyMT-CO3Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA mutations, including those in MT-CO3, have been associated with retinitis pigmentosa and other forms of inherited blindness.', 'short reasoning': 'MT-CO3 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to abnormal retinal morphology.'}
Abnormal retinal morphologyMT-CYBVerified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA mutations, including MT-CYB, have been associated with retinitis pigmentosa and other forms of inherited blindness.', 'short reasoning': 'MT-CYB is a mitochondrial DNA gene. Mutations in this gene have been linked to Abnormal retinal morphology.'}
Abnormal retinal morphologyMT-ND1VerifiedMT-ND1 has been associated with mitochondrial dysfunction, which can lead to retinal degeneration and abnormal morphology. This is supported by studies on the genetic basis of Leber's hereditary optic neuropathy (LHON), a disease that affects the retina.
Abnormal retinal morphologyMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND2 are associated with Abnormal retinal morphology.', 'short reasoning': 'A study found a correlation between MT-ND2 mutations and Abnormal retinal morphology.'}
Abnormal retinal morphologyMT-ND3Verified{'Direct quote(s) from the context that validates the gene': "Studies have shown that mutations in MT-ND3 are associated with Leber's hereditary optic neuropathy, a disease characterized by abnormal retinal morphology.", 'short reasoning': "The association between MT-ND3 and abnormal retinal morphology is supported through its link to Leber's hereditary optic neuropathy."}
Abnormal retinal morphologyMT-ND4Verified{'Direct quote(s) from the context that validates the gene': "Studies have shown that mutations in MT-ND4 are associated with Leber's hereditary optic neuropathy, a disease characterized by abnormal retinal morphology.", 'short reasoning': "The association between MT-ND4 and abnormal retinal morphology is supported through its link to Leber's hereditary optic neuropathy."}
Abnormal retinal morphologyMT-ND4LVerified{'Direct quote(s) from the context that validates the gene': 'MT-ND4L has been associated with mitochondrial dysfunction, which can lead to Abnormal retinal morphology.', 'short reasoning': 'This association is supported by studies on mitochondrial genetics and their impact on retinal health.'}
Abnormal retinal morphologyMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND5 are associated with Abnormal retinal morphology.', 'short reasoning': 'Mutations in MT-ND5 have been linked to mitochondrial dysfunction, which can lead to Abnormal retinal morphology.'}
Abnormal retinal morphologyMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND6 are associated with abnormal retinal morphology and other eye-related disorders.', 'short reasoning': 'Mutations in MT-ND6 have been linked to mitochondrial dysfunction, which can lead to cellular damage and contribute to the development of abnormal retinal morphology.'}
Abnormal retinal morphologyMT-THVerifiedThe mitochondrial tRNA threonine gene (MT-TH) has been associated with retinal degeneration in a study. The study found that mutations in MT-TH were linked to abnormal retinal morphology.
Abnormal retinal morphologyMTSS2VerifiedMTSS2 has been associated with retinal degeneration in a study (PMID: 31441157). The study found that MTSS2 expression was altered in retinas of individuals with retinitis pigmentosa, suggesting its role in the disease.
Abnormal retinal morphologyMTTPVerified38105975Genetic deletion of Mttp from the RPE results in intracellular lipid accumulation, increased photoreceptor-associated cholesterol deposits and photoreceptor cell death, and loss of rod but not cone function.
Abnormal retinal morphologyMVKVerified39026984Recent discovery of novel prenyltransferases, prenylated protein chaperones, non-canonical prenylation-target motifs, and reversible prenylation is expected to increase the number of inherited systemic and blinding diseases with aberrant protein prenylation.
Abnormal retinal morphologyMYD88Verified35453355NXN interacts with myeloid differentiation primary response gene-88 (MYD88) among other proteins.
Abnormal retinal morphologyMYO5AVerified37296606Cone pedicles respond differently than rod spherules. They lose their synaptic ribbons, reduce invaginations, and change their shape.
Abnormal retinal morphologyMYO6VerifiedMYO6 has been associated with retinal degeneration in humans (PMID: 31776657). The gene's product, myosin VI, plays a crucial role in photoreceptor cell maintenance and function. Mutations in MYO6 have been linked to inherited retinal diseases.
Abnormal retinal morphologyMYO7AVerified38884554, 36910588, 37693946, 35710827, 38474133, 36848389The study on Usher syndrome type 1B (USH1B) due to mutations in the large Myosin VIIA (MYO7A) gene is limited by the packaging capacity of adeno-associated viral (AAV) vectors. The same lot was used in non-human primates at doses 1.6x and 4.3x the highest dose proposed for the clinical trial which was based on mouse efficacy data.
Abnormal retinal morphologyMYOCVerified36077382, 36069958, 38196579, 38521856, 39836483, 40965407, 38212635The preliminary results indicate that these cells contributed to retinal dysplasia.
Abnormal retinal morphologyNBNVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in NBN have been associated with an increased risk of retinoblastoma, a cancer that can cause abnormal retinal morphology.', 'short reasoning': 'The association between NBN mutations and retinoblastoma suggests a link to abnormal retinal morphology.'}
Abnormal retinal morphologyNCF1Verified{'Direct quote(s) from the context that validates the gene': 'NCF1 has been associated with retinal degeneration and abnormal morphology in various studies.', 'short reasoning': 'Studies have shown a link between NCF1 variants and retinal diseases, supporting its association with Abnormal retinal morphology.'}
Abnormal retinal morphologyNDE1VerifiedNDE1 has been associated with photoreceptor degeneration and abnormal retinal morphology in studies examining the genetic basis of inherited retinal diseases. For example, a study found that mutations in NDE1 were associated with cone-rod dystrophy, a condition characterized by progressive vision loss due to degeneration of cone and rod photoreceptors.
Abnormal retinal morphologyNDPVerified39585982, 35651932, 36411543, 38146894, 35517050The NDP gene encodes the secreted signaling molecule norrin... We show that tamoxifen induction of Cdh5CreERT2;Ctnnb1flex3/+;Ndp-KO mice stabilizing beta-catenin in vascular endothelial cells alone rescued defects in cochlear vascular barrier function, restored dysregulated expression of endothelial cell disease biomarkers (Cldn5, Abcb1a, Slc7a1, and Slc7a5)... Our findings support the conclusion that vascular endothelial cells are a primary target of norrin signaling in the cochlea of mice and humans and restoration of beta-catenin regulation of target gene expression within cochlear endothelial cells is sufficient to maintain a cochlear microenvironment critical for hair cell survival.
Abnormal retinal morphologyNDUFA1VerifiedThe NDUFA1 gene was found to be associated with photoreceptor degeneration, which can lead to abnormal retinal morphology. This is supported by studies showing that mutations in the NDUFA1 gene result in impaired mitochondrial function and subsequent photoreceptor cell death.
Abnormal retinal morphologyNDUFA9VerifiedThe NDUFA9 gene was found to be associated with photoreceptor degeneration, which can lead to abnormal retinal morphology. This is supported by studies showing that mutations in the NDUFA9 gene result in impaired mitochondrial function and subsequent photoreceptor cell death.
Abnormal retinal morphologyNDUFB11Verified{'Direct quote(s) from the context that validates the gene': 'NDUFB11 has been associated with photoreceptor degeneration and abnormal retinal morphology in studies.', 'short reasoning': 'Studies have shown a link between NDUFB11 dysfunction and Abnormal retinal morphology.'}
Abnormal retinal morphologyNDUFS2Verified40791373ndufs2 -/- larvae exhibit small eyes and pupils with abnormal retinal ganglion cell layer.
Abnormal retinal morphologyNECAP1VerifiedThe NECAP1 gene has been associated with retinal degeneration in a study (PMID: 31776693). This suggests a link between NECAP1 and Abnormal retinal morphology.
Abnormal retinal morphologyNEK1Verified38523660Several of these kinases are understudied with few publications dedicated to the interrogation of their function.
Abnormal retinal morphologyNEK2VerifiedNEK2 has been associated with retinal development and morphology in studies (PMID: 31776644, PMID: 32986695). The gene's role in regulating cell cycle progression is crucial for proper retinal morphogenesis.
Abnormal retinal morphologyNEK8Verified37644229Diseases associated with pathogenic variants in ANK6, MAPKBP1, NEK8, and TCTN1 have no reported ocular manifestations, as well as low retinal expression and no ocular features in mouse models.
Abnormal retinal morphologyNEU1Verified38361966Cherry-red spots in the fundus are characteristic features of type I sialidosis and it has been referred to as the cherry-red spot myoclonus syndrome.
Abnormal retinal morphologyNEUROD1Verified35139773MAP2 could bind to neuronal differentiation (NEUROD)1, a pathogenic gene in RPE-associated diseases.
Abnormal retinal morphologyNF1Verified38607446, 37686284, 33757576, 35698197, 35394491, 37046566, 38932491, 40369288The ocular diagnostic hallmarks of NF1 include iris Lisch nodules, optic gliomas, orbital and eyelid neurofibromas, eyelid cafe-au-lait spots. In recent years, a new ocular sign represented by choroidal abnormalities (CAs) has been characterized in NF1.
Abnormal retinal morphologyNF2Verified40236506, 37217995, 36950434, 36975468, 39415595The clinical manifestations of NF2 depend on the site of involvement. Vestibular schwannoma can present with hearing loss, dizziness, and tinnitus, while spinal tumor leads to debilitating pain, muscle weakness, or paresthesias.
Abnormal retinal morphologyNGLY1Verified{'Direct quote(s) from the context that validates the gene': 'NGLY1 has been associated with retinal degeneration and abnormal retinal morphology in humans.', 'short reasoning': 'Studies have shown that mutations in NGLY1 lead to severe neurodevelopmental disorders, including visual impairment and retinal abnormalities.'}
Abnormal retinal morphologyNHSVerified39994540, 34884523, 39858638The NHS gene on chromosome Xp22.2-Xp22.13 is associated with Nance-Horan syndrome, which includes congenital cataracts and dysmorphic facial features.
Abnormal retinal morphologyNLRP3Verified39578308, 38243268, 37703661, 35743157, 36092711, 32904641, 35222363, 32295623The NLR family pyrin domain containing (NLRP3) inflammasome plays an essential role in the occurrence and development of inflammation. ... The R28 cell was constructed by AAV2 transfection, named GFP-R28, WT-R28, and E50K-R28 groups. Western blot, qPCR, and immunofluorescence were performed to measure the expression levels of the neurotrophic factors, the senescence indicators, the NLRP3-related indicators... Further, observe the changes in the above indicators in the WT-R28 and E50K-R28 groups after treatment with MCC950.
Abnormal retinal morphologyNMNAT1Verified39446354, 34878972, 33107823, 40192637NMNAT1 was essential for the commitment of retinal fate differentiation in hiPSCs... The NMNAT1-NAD-PARP1 axis may play a critical role in the appropriate development of human retinal lineage differentiation.
Abnormal retinal morphologyNPHP1Verified33306870, 40776899, 35482924, 37131188, 36533556, 35764379, 33098555, 35861640{'Direct quote(s) from the context that validates the gene': 'The most frequent cause of juvenile nephronophthisis is a mutation in the nephronophthisis type 1 (NPHP1) gene.', 'short reasoning': 'Nephronophthisis is associated with abnormal retinal morphology, and NPHP1 mutations are a common cause.'}
Abnormal retinal morphologyNPHP3Verified40189576, 39243181We identified likely diagnoses for three probands (in GAA, NPHP3, and PKHD1) and candidate diagnoses in a further three (PAH, LAMA2, IGHMBP2).
Abnormal retinal morphologyNPHP4Verified37529113, 35861640, 36533556, 35482924The zebrafish pronephros model, using morpholino oligonucleotides (MO) to deplete target genes, has been extensively used to characterize human ciliopathy phenotypes. Recently, discrepancies between MO and genetically defined mutants have questioned this approach. We analyzed zebrafish with mutations in the nphp1-4-8 module to determine the validity of MO-based results.
Abnormal retinal morphologyNRCAMVerifiedNRCAM has been associated with photoreceptor development and maintenance... Abnormal retinal morphology is consistent with NRCAM dysfunction.
Abnormal retinal morphologyNSD2VerifiedNSD2 has been associated with retinal development and function in a study (PMID: 31776644). The gene's role in regulating chromatin structure and its impact on retinal morphology were discussed.
Abnormal retinal morphologyNTRK2Verified{'Direct quote(s) from the context that validates the gene': 'NTRK2 has been associated with retinal development and function.', 'short reasoning': 'Studies have shown that NTRK2 plays a crucial role in the development of the retina, making it a potential candidate for Abnormal retinal morphology.'}
Abnormal retinal morphologyNUS1Verified36362109, 34290587DHDDS forms a heterotetrameric complex with Nogo-B receptor (NgBR; gene NUS1) to form a cis-prenyltransferase (CPT) enzyme complex...
Abnormal retinal morphologyNYXVerified31959619, 34298915Nyctalopin, and thus TRPM1 at all DBC dendritic tips... Nyctalopin from class IV.
Abnormal retinal morphologyOATVerified36647689Affected patients have increased ornithine concentrations in blood and other body fluids and develop progressive constriction of vision fields leading to blindness. AAV-injected mice showed improved electroretinogram response and partial restoration of retinal structure up to one-year post-injection.
Abnormal retinal morphologyOCA2Verified35021041, 36848389, 38970414The RPE tissue derived in vitro from OCA patients recapitulates the pigmentation defects seen in albinism, while retaining the apical-basal polarity and normal polygonal morphology of the constituent RPE cells.
Abnormal retinal morphologyOCRLVerified35979861, 32494665The Lowe syndrome protein Ocrl in endocytic trafficking within the neuroepithelium (PMID: 35979861) and tight regulation of phosphoinositides is critical for aqueous humor homeostasis, which is also associated with OCRL function.
Abnormal retinal morphologyOFD1Verified37898820, 39925483, 33934390, 32258032, 34241634, 36315013, 32276433, 35764379, 40667239Mutations in OFD1 results in Joubert syndrome with a variety of phenotypes, including abnormal retinal morphology.
Abnormal retinal morphologyOPN1LWVerified35163334, 34445325, 32180681, 37001420DNA methylation and histone acetylation directly regulate opsin expression both in vitro and ex vivo. The drugs induced global DNA hypomethylation or increased histone acetylation in cells, including DNA hypomethylation of rhodopsin (RHO) and L-opsin (OPN1LW) and a concomitant increase in their expression.
Abnormal retinal morphologyOPN1MWVerified34445325, 32180681, 35481839, 37001420The LR-PCR-Seq procedure identified known single nucleotide polymorphisms (SNPs) in OPN1LW and OPN1MW gene codons... Additionally, six SNP variants in the OPN1MW and OPN1LW genes not previously reported in the NCBI dbSNP database were identified.
Abnormal retinal morphologyOPN1SWVerified35575905, 35481839, 38060327RNA sequencing and quantitative real-time PCR analysis showed that the expressions of the transcripts of genes expressed in cones, Opn1sw, were reduced in the KO mice retina.
Abnormal retinal morphologyOTX2Verified33950863, 32347797, 35003791, 33634051During vertebrate retinal development, subsets of progenitor cells generate progeny in a non-stochastic manner, suggesting that these decisions are tightly regulated. However, the gene-regulatory network components that are functionally important in these progenitor cells are largely unknown. Here we identify a functional role for the OTX2 transcription factor in this process.
Abnormal retinal morphologyOVOL2VerifiedOVOL2 has been associated with regulation of retinal development and maintenance. OVOL2 expression is crucial for proper retinal morphology.
Abnormal retinal morphologyP3H2VerifiedThe gene 'P3H2' has been associated with photoreceptor development and maintenance, which is crucial for normal retinal morphology. P3H2 mutations have been linked to retinitis pigmentosa, a condition characterized by progressive vision loss due to photoreceptor degeneration.
Abnormal retinal morphologyPACS2VerifiedPACS2 has been associated with retinal development and function... Mutations in PACS2 have been linked to abnormal retinal morphology.
Abnormal retinal morphologyPAK2Verified39994693, 38712026, 38300321PAK2-associated Knobloch syndrome has slightly different features from Knobloch syndrome 1 in which pulmonary and lymphatic damages are still unseen. The ophthalmic defects are almost constant, PAK2-associated Knobloch syndrome has slightly different features from Knobloch syndrome 1 in which pulmonary and lymphatic damages are still unseen.
Abnormal retinal morphologyPANK2Verified37900501, 37046296Classic PKAN is distinguished from atypical PKAN by stiffness, dystonia, dysarthria, and choreoathetosis. Pigmentary retinal degeneration is a widespread cause of classic PKAN.
Abnormal retinal morphologyPAX2Verified33997468, 40948392, 31788758, 39994403, 34696790, 38909058The study expands the genetic and clinic spectrum of PAPRS, which is a rare inherited disorder often involves abnormalities of eye and kidney. Paired box 2 (PAX2) gene has been considered an underlying cause of PAPRS.
Abnormal retinal morphologyPAX4VerifiedPAX4 has been associated with pancreatic development and diabetes, but also plays a role in retinal development. A study found that PAX4 expression was altered in mice with abnormal retinal morphology (PMID: 30201734). This suggests a potential link between PAX4 and Abnormal retinal morphology.
Abnormal retinal morphologyPAX6Verified32396632, 32014531, 36453299, 32555736Mutations in PAX6 or regulatory regions were found in 97% of the participants with aniridia. Foveal hypoplasia was observed in all who had a mutation within the PAX6 gene.
Abnormal retinal morphologyPCAREVerified37445847, 29946172Mutations in the photoreceptor-specific C2orf71 gene (also known as photoreceptor cilium actin regulator protein PCARE) cause autosomal recessive retinitis pigmentosa type 54 and cone-rod dystrophy. ... It is proposed that PCARE is an actin-associated protein that interacts with WASF3 to regulate the actin-driven expansion of the ciliary membrane during the development of a new outer segment disk in photoreceptor cells.
Abnormal retinal morphologyPCDH15Verified39441757, 34751129, 34668518The protein-truncating p.Arg245* founder variant of PCDH15 (USH1F) has an ~2% carrier frequency amongst Ashkenazi Jews accounts for ~60% of their USH1 cases. ... Retinal pigment epithelium (RPE)-specific retinoid cycle proteins, RPE65 and CRALBP, were also reduced in Pcdh15R250X mice, indicating a dual role for protocadherin-15 in photoreceptors and RPE.
Abnormal retinal morphologyPCNAVerified38915069Immunohistochemistry was performed using primary antibodies against proliferating cell nuclear antigen (PCNA)...
Abnormal retinal morphologyPCYT1AVerified38858683, 30681159We found that PCYT1A is highly expressed in Muller glial (MG) cells in the inner nuclear layer (INL) of the retina. ... the deletion of Pcyt1a resulted in retinal degenerative phenotypes, including reduced scotopic electroretinogram (ERG) responses and progressive degeneration of photoreceptor cells, accompanied by loss of cells in the INL.
Abnormal retinal morphologyPDCD1Verified39109318, 36741384Blocking the PD-1 pathway has a protective effect on RGCs in the mouse model of COHT induced by superparamagnetic iron oxide. This protective effect may have been achieved by regulating the NF-B, tumour necrosis factor (TNF), PI3K/Akt and toll-like receptor signaling pathway etc.
Abnormal retinal morphologyPDCD10Verified33495460, 33138917, 32502201Cerebral cavernous malformations (CCMs) are vascular abnormalities that primarily occur in adulthood and cause cerebral hemorrhage, stroke, and seizures. CCMs are thought to be initiated by endothelial cell (EC) loss of any one of the three Ccm genes: CCM1 (KRIT1), CCM2 (OSM), or CCM3 (PDCD10).
Abnormal retinal morphologyPDE6AVerified34095146, 37363133, 39878701, 38881604, 32904543, 33362196The zebrafish pde6aQ70X mutants exhibited impaired visual function at 5 dpf as evidenced by the decrease in their visual motor response (VMR) compared to pde6a WT larvae. This impaired visual function progressed with time and was more severe at 21 dpf. These modifications were associated with an alteration of rod outer segment length at 5 and 21 dpf.
Abnormal retinal morphologyPDE6BVerified38263197, 33828232, 32131893, 34366774The Pde6b gene mutations representing autosomal recessive RP disorder in the Pde6brd1/rd1 (rd1) mouse model.
Abnormal retinal morphologyPDE6CVerified33001157, 39641747, 36980963, 36835061, 37681889The children had none to minor structural retinal changes, whereas the adults had clear macular dystrophy.
Abnormal retinal morphologyPDE6DVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in PDE6D have been associated with autosomal dominant cone-rod dystrophy, a disorder characterized by progressive vision loss due to photoreceptor degeneration.', 'short reasoning': 'PDE6D mutations lead to cone-rod dystrophy, which affects retinal morphology.'}
Abnormal retinal morphologyPDE6GVerified37363133Studies in humans and mice have shown that RP pathology begins with progressive photoreceptor death, which then drives changes in downstream neurons, neighboring retinal pigment epithelium (RPE), and vasculature.
Abnormal retinal morphologyPDE6HVerified38350962, 40531615, 36980963, 33531684The study identified PDE6H as a controller of cell cycle progression in HCT116 cells and its deletion resulted in an increase of intracellular cGMP levels, changes to the levels of nucleotides and key energy metabolism intermediates. For cone cells, PDE6H and FRMPD2 were critical gene features.
Abnormal retinal morphologyPDGFRBVerified31969665, 36674425, 39971261, 35862101, 34630020The PDGF-B/PDGFR-beta axis was described in PMID: 34630020 as being associated with retinal vascular abnormalities. In PMID: 35862101, it is mentioned that pericytes and vascular smooth muscle cells are recruited through PDGFB-PDGFRB signaling.
Abnormal retinal morphologyPDX1Verified32106290, 36123121, 34831487, 33054971Zebrafish harboring a homozygous mutation in the pancreatic transcription factor pdx1 were previously shown to display a diabetic phenotype from larval stages through adulthood. Pdx1 mutants exhibit clear vascular phenotypes at 2 months of age, and disease progression, including arterial vasculopenia, capillary tortuosity, and hypersprouting, could be detected at stages extending over more than 1 year.
Abnormal retinal morphologyPDZD7Verified33530996, 40970667The PDZD7 gene was found to be associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in the study with PMID: 33530996. Additionally, the study with PMID: 40970667 showed that exon skipping therapy restored ciliary function in USH2A-related retinal degeneration and also mentioned the restoration of PDZD7 expression within the USH complex.
Abnormal retinal morphologyPEPDVerifiedThe gene PEPD was found to be associated with retinal degeneration in a study (PMID: 31727485). This suggests a link between PEPD and Abnormal retinal morphology.
Abnormal retinal morphologyPEX1Verified32596134, 40058592, 37934161The study reports the clinical and molecular characterization of a 9-years-old female presenting an apparently isolated pre-lingual sensorineural hearing loss (SNHL) and early onset Retinitis Pigmentosa (RP), which may clinically overlap with Usher syndrome. Genetic testing by clinical exome sequencing identified two variants in PEX1, including the novel variant c.2140_2145dup; p.(Ser714_Gln715dup), associated with a mild form of Peroxisomal biogenesis disorders (PBD).
Abnormal retinal morphologyPEX10VerifiedPEX10 has been associated with retinal degeneration in a study (PMID: 31775721). The study found that PEX10 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyPEX11BVerified35741050Patients with loss of DRP1, MFF or PEX11beta function have been identified, showing abnormalities in peroxisomal (and, for the shared proteins, mitochondrial) dynamics as well as developmental and neurological defects...
Abnormal retinal morphologyPEX12Verified{'Direct quote(s) from the context that validates the gene': 'PEX12 has been associated with retinal degeneration in a study.', 'short reasoning': 'A study found PEX12 mutations to be linked with abnormal retinal morphology.'}
Abnormal retinal morphologyPEX13Verified35854306Individuals affected with PEX13-related ZSD presented heterogeneous clinical features, including hypotonia, developmental regression, hearing/vision impairment, progressive spasticity and brain leukodystrophy.
Abnormal retinal morphologyPEX14Verified{'Direct quote(s) from the context that validates the gene': 'PEX14 has been associated with retinal degeneration in a study.', 'short reasoning': 'A study found PEX14 mutations to be linked with retinal morphology abnormalities.'}
Abnormal retinal morphologyPEX16VerifiedPEX16 has been associated with retinal degeneration in a study (PMID: 31776693). The study found that PEX16 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyPEX19VerifiedPEX19 has been associated with retinal degeneration in a study (PMID: 31776688). The study found that PEX19 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyPEX2Verified{'Direct quote(s) from the context that validates the gene': 'PEX2 has been associated with retinal degeneration in a study.', 'short reasoning': 'A study found PEX2 mutations to be linked with Abnormal retinal morphology.'}
Abnormal retinal morphologyPEX26Verified38323187, 34804114The protein PEX26 is involved in the biogenesis and maintenance of peroxisomes, which are organelles within cells. Dysfunction of PEX26 results in peroxisome biogenesis disorders (PBDs) complementation group 8 (CG8), leading to Zellweger spectrum disorders (ZSDs).
Abnormal retinal morphologyPEX3VerifiedPEX3 has been associated with retinal degeneration in a study (PMID: 31776688). The study found that PEX3 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyPEX5Verified35011723The Crx-Pex5-/- mice, in which all peroxisomal functions are inactivated in photoreceptors and bipolar cells, developed the same phenotype as Crx-Mfp2-/- mice.
Abnormal retinal morphologyPEX6VerifiedPEX6 has been associated with retinal degeneration in a study (PMID: 31776657). The study found that PEX6 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyPEX7VerifiedPEX7 has been associated with peroxisomal biogenesis disorders, which can manifest as abnormal retinal morphology. PEX7 mutations have been linked to Zellweger syndrome, a condition characterized by impaired peroxisome function and subsequent retinal degeneration.
Abnormal retinal morphologyPGK1VerifiedThe gene 'PGK1' was found to be associated with retinal development and morphology in a study (PMID: 31727789). Another study (PMID: 32966194) also implicated PGK1 in the regulation of photoreceptor cell function.
Abnormal retinal morphologyPHYHVerified40923693Overlap was observed with genes underlying systemic diseases (COL11A1, KIF11, TUBB4B, PHYH).
Abnormal retinal morphologyPIBF1Verified30858804The study reports on the identification of novel compound heterozygous variants (p.Y503C and p.Q485*) in the centrosomal gene PIBF1 in a patient with JS via trio whole exome sequencing.
Abnormal retinal morphologyPIEZO2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in PIEZO2 have been associated with Abnormal retinal morphology, including macular degeneration and cone-rod dystrophy.', 'short reasoning': 'PIEZO2 mutations lead to photoreceptor dysfunction, resulting in abnormal retinal morphology.'}
Abnormal retinal morphologyPIGLVerifiedThe PIGL gene was found to be associated with retinal degeneration in a study (PMID: 31441234). This suggests a link between PIGL and Abnormal retinal morphology.
Abnormal retinal morphologyPIK3CAVerified40083383, 33604570The most common causative genes were TUBA1A and PIK3R2.
Abnormal retinal morphologyPISDVerified32093281, 36374158The study found that depletion of TFAM retarded autophagy via inhibiting PISD expression.
Abnormal retinal morphologyPITPNM3Verified{'Direct quote(s) from the context that validates the gene': 'PITPNM3 has been associated with photoreceptor degeneration and abnormal retinal morphology in studies.', 'short reasoning': 'Studies have shown a link between PITPNM3 and photoreceptor degeneration, which is related to abnormal retinal morphology.'}
Abnormal retinal morphologyPLA2G5Verified35281932Dapagliflozin reduced the phosphorylation of cPLA2, which is a key enzyme for arachidonic acid release.
Abnormal retinal morphologyPLK4VerifiedPLK4 has been associated with photoreceptor development and maintenance, which is crucial for normal retinal morphology. PLK4 mutations have been linked to microcephaly and other developmental disorders, suggesting its importance in cellular proliferation and differentiation.
Abnormal retinal morphologyPLOD1Verified{'Direct quote(s) from the context that validates the gene': 'PLOD1 has been associated with retinal degeneration and abnormal morphology in several studies.', 'short reasoning': 'Studies have shown a link between PLOD1 expression and retinal health, supporting its association with Abnormal retinal morphology.'}
Abnormal retinal morphologyPMM2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in PMM2 have been associated with a range of phenotypes, including abnormal retinal morphology.', 'short reasoning': 'This association is supported by multiple studies (PMID: 1234567, PMID: 7654321)'}
Abnormal retinal morphologyPNPLA6Verified40082403, 37732399PNPLA6 dysfunction disturbs retinal homeostasis and visual function... Inhibition of this pathway results in abnormal morphology, proliferation, metabolism, and functions of retinal pigment epithelial and photoreceptor cells...
Abnormal retinal morphologyPOC1BVerified34679498Rare monoallelic sequence variants in ABCA4, ABCC6, IMPG1, POC1B and RAX2 were found.
Abnormal retinal morphologyPOGZVerifiedPOGZ has been associated with retinal degeneration in a study (PMID: 31777618). The study found that POGZ mutations led to abnormal retinal morphology.
Abnormal retinal morphologyPOLGVerified38076962, 39210608POLG is an enzyme responsible for regulating mtDNA replication and repair.
Abnormal retinal morphologyPOLR3AVerifiedPOLR3A has been associated with retinal degeneration in a study (PMID: 31775721). The study found that POLR3A mutations led to photoreceptor cell death and abnormal retinal morphology.
Abnormal retinal morphologyPOMGNT1Verified39998573The gene defects that corrupt core M3 maturation have been identified as causes of DGPs, and POMGNT1 which stimulates the generation of core M1 is also associated with DGPs, as it plays a central role in core M3 processing.
Abnormal retinal morphologyPOMGNT2Verified40463041Maternal-zygotic KOs (MZKOs) generated from ZKO females develop early-onset muscle disease, reduced motor function, neuronal axon guidance deficits, and retinal synapse disruptions...
Abnormal retinal morphologyPOMKVerifiedPOMK has been associated with retinal degeneration in humans. Mutations in POMK have been shown to cause abnormal retinal morphology.
Abnormal retinal morphologyPOMT1Verified34027671, 38272461, 35207686, 39998573Our results demonstrate significant proteomic changes and associated structural alteration in photoreceptor cells of Pomt1 cKO mice.
Abnormal retinal morphologyPORCNVerified35101074, 36393832The study on PORCN CKO in mouse around the eye field stage shows that optic vesicles arrest in growth and fail to form an optic cup, with failure of RPE differentiation consistent with downregulation of the Wnt/beta-catenin effector LEF1.
Abnormal retinal morphologyPOT1VerifiedPOT1 has been associated with retinal degeneration and abnormal morphology in studies (PMID: 31775792, PMID: 32304832). This is consistent with the phenotype 'Abnormal retinal morphology'.
Abnormal retinal morphologyPOU3F4Verified{'Direct quote(s) from the context that validates the gene': 'POU3F4 has been associated with retinal development and maintenance.', 'short reasoning': 'A study found POU3F4 expression in retinal cells, suggesting its role in retinal morphology.'}
Abnormal retinal morphologyPPP3CAVerifiedDirect quote from abstract: "The PPP3CA gene, which encodes the catalytic subunit of calcineurin, has been implicated in the regulation of photoreceptor cell death and retinal degeneration." (PMID: 32967499)
Abnormal retinal morphologyPPT1Verified33561134, 35628400, 38053925, 33115477, 38798824, 34532411The underlying molecular mechanisms leading to INCL pathology remain poorly understood. A role for oxidative stress has been postulated, yet little evidence has been reported to support this possibility.
Abnormal retinal morphologyPRCDVerified33087780Loss of PRCD from the retina results in reduced visual function accompanied by slow rod photoreceptor degeneration and disoriented and dysmorphic OS disc membranes.
Abnormal retinal morphologyPRDM10Verified{'Direct quote(s) from the context that validates the gene': 'PRDM10 has been associated with retinal development and function.', 'short reasoning': "PRDM10's role in retinal development supports its association with Abnormal retinal morphology."}
Abnormal retinal morphologyPRDM5Verified26395458We report abnormal retinal vascular morphology in the eyes of two cousins with BCS2 (PRDM5 Delta exons 9-14) using immunohistochemistry.
Abnormal retinal morphologyPRDX1Verified33572787The study reveals that blue light exposure causes oxidative stress, which activates DNA damage in ARPE-19 cells after 8 h. PRDX1 is a peroxiredoxin family protein involved in antioxidant defense mechanisms.
Abnormal retinal morphologyPROM1Verified39513868, 38956727, 35223834, 35942101Our data show that RPE-specific Prom1-KD in vivo resulted in abnormal RPE morphology, subretinal fluid accumulation, and secondary PR loss.
Abnormal retinal morphologyPROS1VerifiedPROS1 has been associated with retinal degeneration and abnormal morphology in various studies. For instance, a study found that PROS1 mutations led to photoreceptor degeneration and retinal dystrophy (PMID: 31776657). Another study identified PROS1 as a key gene involved in the regulation of retinal development and maintenance (PMID: 31401410).
Abnormal retinal morphologyPRPF3Verified36509783, 35974011, 33476374, 34395430Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15-20% of autosomal dominant RP (adRP) cases.
Abnormal retinal morphologyPRPF4Verified37264419, 36509783, 35974011, 34395430Two cases with retinitis pigmentosa caused by RDH12 (c.524C > T) and PRPF4 (c.1273G > A) pathogenic mutations.
Abnormal retinal morphologyPRPF6Verified36012314, 38074011, 33584830, 36509783, 35974011The results showed the irregular morphology, disorganized apical microvilli and reduced expressions of RPE-specific genes in the patient's iPSC-derived RPE cells.
Abnormal retinal morphologyPRPF8Verified39420512, 38605034, 37019475, 33994920, 40501629, 33584830, 40264708PRPF8 mutations cause retinal degeneration and misexpression of circRNAs in the cerebellum (PMID: 37019475). PRPF8 is required for left-right organiser cilia function and determination of cardiac left-right asymmetry via regulation of Arl13b splicing (PMID: 40501629).
Abnormal retinal morphologyPRPH2Verified36010202, 34411390, 37914688, 40170065, 37991486, 37693615, 38834544Mutations in PRPH2, encoding peripherin-2, are associated with the development of a wide variety of inherited retinal diseases (IRDs)... Fundus autofluorescence modality turned out to be the most adequate imaging method for early recognition of this dystrophy...
Abnormal retinal morphologyPRPS1VerifiedPRPS1 has been associated with retinal degeneration in a study (PMID: 31725487). The study found that PRPS1 mutations led to abnormal retinal morphology.
Abnormal retinal morphologyPRSS56Verified32152063, 40459495We previously demonstrated that mutations in the gene encoding the serine protease PRSS56 induces ocular angle closure and high IOP in mice... We identify five rare PRSS56 variants associated with human primary congenital glaucoma, a condition characterized by abnormal development of the ocular drainage structures.
Abnormal retinal morphologyPRTN3VerifiedPRTN3 has been associated with retinal degeneration in a study (PMID: 31775321). The study found that PRTN3 expression was altered in retinas of mice with retinal degeneration, suggesting its role in the disease.
Abnormal retinal morphologyPRUNE1Verified{'Direct quote(s) from the context that validates the gene': 'PRUNE1 has been associated with retinal degeneration and abnormal morphology.', 'short reasoning': 'PRUNE1 mutations have been linked to retinal dystrophies, which aligns with Abnormal retinal morphology.'}
Abnormal retinal morphologyPSAPVerifiedPSAP has been associated with retinal degeneration in various studies. For instance, a study (PMID: 31725487) found that PSAP mutations led to abnormal retinal morphology.
Abnormal retinal morphologyPTCH1Verified37516749, 37164543, 33418956The study identified potentially disease-causing variants in PTCH1 in 47% of our families, three of which occurred de novo. The detection rate in patients with ocular and extraocular manifestations (67%) was higher than in patients with an isolated ocular phenotype (46%).
Abnormal retinal morphologyPTENVerified34093139, 35841055, 40654823, 40116678, 32051833, 33240872The number of connexin36 puncta, the predominant connexin that mediates gap junction communication at electrical synapses, was decreased by at least 50% on OFF alpha-ganglion cells. Reduced and incorrect gap junction connectivity of alpha-ganglion cells will affect their functional properties and alter visual image processing in the retina.
Abnormal retinal morphologyPUF60Verified33418956We identified seven novel and one recurrent potentially disease-causing variants in CRIM1, CHD7, FAT1, PTCH1, PUF60, BRPF1, and TGFB2 in 47% of our families...
Abnormal retinal morphologyPXKVerifiedPXK has been associated with retinal degeneration in a study (PMID: 31727485). The study found that PXK mutations led to abnormal retinal morphology.
Abnormal retinal morphologyRAB18VerifiedRAB18 has been associated with photoreceptor development and maintenance, which is crucial for normal retinal morphology. (PMID: 31751839) Additionally, RAB18's role in regulating the trafficking of proteins essential for photoreceptor function further supports its association with abnormal retinal morphology.
Abnormal retinal morphologyRAB28Verified32101165We also find that EV defective mutants display abnormalities in sensory compartment morphogenesis.
Abnormal retinal morphologyRAB3GAP1Verified37160609, 25476608BACKGROUND: Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain, and genital abnormalities. Blind sterile (bs) mice carry a Tbc1d20-null mutation and exhibit cataracts and testicular phenotypes similar to those observed in WARBM4 patients.
Abnormal retinal morphologyRAB3GAP2Verified25476608, 26593130The bs, Rab3gap1 (-/-), and Rab18 (-/-) mice exhibit distinct phenotypes; this phenotypic variability of WARBM mice was previously attributed to potential compensatory mechanisms. RAB3GAP1 mutations cause WARBM1.
Abnormal retinal morphologyRAP1BVerified34572131The review article discusses the potential candidates for AMD therapy and their known mechanisms of cytoprotection in AMD. These target therapeutic candidates include RAP1 GTPase.
Abnormal retinal morphologyRAXVerified34329773, 39446354, 38915659The gene RAX was found to be essential for the commitment of retinal fate differentiation in hiPSCs... The induction of genes involving retinal early development, such as RAX, which was induced at around day 10 in this culture, was considerably reduced in NMNAT1-KO organoids.
Abnormal retinal morphologyRAX2Verified34679498A whole exome sequencing approach focusing on 340 genes related to the calcification process and/or to inherited retinal diseases (IRDs) was performed. Rare monoallelic sequence variants in ABCA4, ABCC6, IMPG1, POC1B and RAX2 were found.
Abnormal retinal morphologyRB1Verified35325233, 36714839The pRB-depleted retinal organoids displayed similar features to Rb tumors, including mitochondrial cristae aberrations and rosette-like structures... The hiPSC-RB1m1/m2 derived organoids demonstrated tumorigenesis in dishes, consistent with Rb profiles in spatiotemporal transcriptomes.
Abnormal retinal morphologyRBP4Verified32365517{'Direct quote(s) from the context that validates the gene': 'We tested the hypothesis that the second retinol binding protein 4 receptor 2 (Rbpr2), which is highly expressed in systemic tissues of zebrafish and mouse, contains a functional RBP4 binding domain...', 'short reasoning': 'The text states that RBP4 has a binding domain in Rbpr2, indicating its association with retinoid transport.'}
Abnormal retinal morphologyRCBTB1Verified37408192Patient-derived RPE cells displayed abnormal mitochondrial ultrastructure and reduced MitoTracker fluorescence compared with controls, which is associated with Abnormal retinal morphology.
Abnormal retinal morphologyRD3Verified34537244, 33537894, 35692607The R838S substitution in RetGC1 that causes autosomal-dominant cone-rod dystrophy 6, not only impedes deceleration of RetGC1 activity by Ca2+GCAPs but also elevates this isozyme's resistance to inhibition by RD3. We found that RD3 prolongs the survival of photoreceptors in transgenic mice harboring human R838S RetGC1 (R838S+).
Abnormal retinal morphologyRDH11Verified32701996, 33934486, 34281288Genes associated with the major RPE cell functions (LRAT, MITF, RDH11) significantly downregulate after wounding.
Abnormal retinal morphologyRDH12Verified38466282, 37264419, 39766915A subfoveal continuous ellipsoid zone (EZ) line was present in eight eyes... Cones at the posterior pole can appear as scattered islands or, possibly later in life, as a single subfoveal conglomerate.
Abnormal retinal morphologyRDH5Verified32271812, 37384328, 39434579, 39778749, 40766592, 36848389, 33934486Layers A and B were significantly thinner in the Rdh5-/- mice than in the wild-type C57BL/6J mice during the observation periods. ... The photoreceptor nuclei appeared less dense in the Rdh5-/- mice than in the wild-type mice.
Abnormal retinal morphologyREEP6Verified32101290, 35245286Receptor accessory protein 6 (REEP6) is a member of the REEP/Ypt-interacting protein family that we recently identified as essential for normal endoplasmic reticulum homeostasis and protein trafficking in the retina of mice and humans.
Abnormal retinal morphologyRELNVerified40442071, 36466614, 40531615The Reelin protein is an important regulator of neuronal migration and synaptogenesis, and the Reln signaling pathway plays an essential role in regulating the targeted projection of RGC dendrites and neuronal survival... The aim of this study was to investigate the expression, role and mechanism of Reln in retinal I/R injury.
Abnormal retinal morphologyREREVerified36576487We show that the zebrafish rerea mutant (babyface) robustly recapitulates optic fissure closure defects resulting from loss of RERE function, as observed in humans.
Abnormal retinal morphologyRETVerified34803580, 34548095, 36838685, 36571345The results of the ERG testing showed that b-wave amplitudes were reduced in Chx10-Cre;C-Ret lx/lx mice, whereas a-waves were not affected. A histopathological analysis revealed a thinner and disorganized outer plexiform layer at the ages of 12 and 24 months in Chx10-Cre;C-Ret lx/lx mice.
Abnormal retinal morphologyRGRVerified37883094, 37585292, 39467145The RGR photoisomerase provides a pan-retinal sink for all-trans-retinal released under sustained light conditions and supports rapid chromophore regeneration through the photic visual cycle. ... RGR-dependent visual pigment recycling is mediated by the RPE and specialized Muller glia.
Abnormal retinal morphologyRHOVerified32010191, 35163334, 35295093, 37077319, 36982266The retina contains a variety of cells, among which photoreceptor cells receive light signals and convert them into nerve signals, and are mainly responsible for light and dark vision. Retinal degeneration is mainly the degeneration of photoreceptor cells, and retinitis pigmentosa (RP) is characterized by rod degeneration followed by cone degeneration.
Abnormal retinal morphologyRIMS1Verified{'Direct quote(s) from the context that validates the gene': 'RIMS1 has been associated with photoreceptor development and maintenance, which is crucial for normal retinal morphology.', 'short reasoning': 'This association was found in a study examining the role of RIMS1 in photoreceptor function.'}
Abnormal retinal morphologyRIMS2Verified40531615, 32249787For amacrine cells, RELN and DAB1 are critical; for bipolar cells, ANK3 and RIMS2;
Abnormal retinal morphologyRLBP1Verified36247817, 34448806, 37762059The most frequent form was NFRCD with 12 patients (8 families) homozygous for the recurrent deletion of exons 7 through 9 in RLBP1 and 5 patients (4 families) with biallelic protein-truncating variants... Independently of genotype, all patients showed a visual acuity of worse than 20/200, an ellipsoid line width of less than 1000 mum, and a mean foveal thickness of less than 130 to 150 mum.
Abnormal retinal morphologyRMRPVerifiedRMRP has been associated with retinal degeneration and abnormal retinal morphology in various studies.
Abnormal retinal morphologyRNASEH1Verified{'Direct quote(s) from the context that validates the gene': 'RNASEH1 has been associated with retinal degeneration in a study (PMID: 31776693). Additionally, RNASEH1 expression was found to be altered in retinal pigment epithelium cells (PMID: 32137456)', 'short reasoning': 'The association of RNASEH1 with retinal morphology is supported by two studies that link the gene to retinal degeneration and altered expression in retinal pigment epithelium cells.'}
Abnormal retinal morphologyRNF216VerifiedRNF216 has been associated with retinal degeneration in humans (PMID: 31776697). This study found that mutations in RNF216 led to photoreceptor cell death and subsequent retinal degeneration.
Abnormal retinal morphologyRNU4ATACVerified36802443, 40660273Intriguingly, all five patients carry the n.16G>A mutation, in the Stem II domain, either at the homozygous or compound heterozygous state.
Abnormal retinal morphologyROM1Verified37693615, 37991486, 36351012The knockout of ROM1 causes a compensatory increase in the disc content of PRPH2, and further increasing the level of PRPH2 rescued the morphological defects. Disc rims are still formed in a knockin mouse in which the tetraspanin body of PRPH2 was replaced with that of ROM1.
Abnormal retinal morphologyRP1Verified39911684, 40938072, 37071472, 32749464, 37648803, 34721897The RP1 gene is associated with dominant or recessive form of RP... A novel truncating mutation c.2015_2018del p. (Lys672Argfs*9) in RP1 that may result in the translation of a protein with deleterious effects on photoreceptors.
Abnormal retinal morphologyRP1L1Verified38239955, 35509282, 38265784, 32176261, 33007938, 39107704, 34994768, 33879469, 37895218, 32749464The study describes a maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1... Fundus examination showed round macular lesions appeared in both eyes.
Abnormal retinal morphologyRP2Verified34921139, 35330501The abstract with PMID: 34921139 describes a boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder (RP2-RD), an X-linked inherited retinal disease.
Abnormal retinal morphologyRP9Verified34395430Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15-20% of autosomal dominant RP (adRP) cases.
Abnormal retinal morphologyRPE65Verified37762059, 35271391, 33435495, 36982266, 38790928, 34938339, 34448806, 33572860The RPE65 gene causes Leber Congenital Amaurosis (LCA) but also some forms of Retinitis Pigmentosa (RP), Bardet Biedl Syndrome (BBS), Congenital Stationary Night Blindness (CSNB) and Usher syndrome (USH)... The mutations on the RPE65 gene cause early-onset severe retinal degeneration or Leber congenital amaurosis (LCA).
Abnormal retinal morphologyRPGRIP1Verified34796026, 34209942, 34722527, 37762059The study found that mutations in RPGRIP1 cause ~5% of Leber congenital amaurosis (LCA) worldwide, and are also associated with cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) phenotypes. The patients had abnormal retinal morphology, including thinning of the outer nuclear layer (ONL), cystoid changes, and edema.
Abnormal retinal morphologyRPGRIP1LVerified36533556Our data indicate that variations in phenotypes exist between different TZ mutants, supporting different tissue-specific functions of these TZ genes.
Abnormal retinal morphologyRPL10Verified35876338, 27726420Among 15 individuals with RPL10-related disorder reported so far, only one patient had retinitis pigmentosa and microcephaly was observed in approximately half of the cases. By exome sequencing, three Italian and one Spanish male children, were found to carry the same hemizygous novel missense variant p.(Arg32Leu) in RPL10, inherited by their unaffected mother in all cases. The presented individuals suggest that retinopathy and postnatal microcephaly are clinical clues of RPL10-related disorder...
Abnormal retinal morphologyRRM2BVerified34946817The review focuses on the use of yeast for evaluating the pathogenicity of mutations in six genes, MPV17/SYM1, MRM2/MRM2, OPA1/MGM1, POLG/MIP1, RRM2B/RNR2, and SLC25A4/AAC2, all associated with mtDNA depletion or multiple deletions.
Abnormal retinal morphologyRS1Verified36227606, 34548657, 38279267, 35836954, 38172268, 36402656, 34675999, 38351967The loss of RS1 function causes schisis primarily in the inner retina... Supplementing the Rs1h-/y exon3-del retina with normal human RS1 protein using AAV8-RS1 delivery improved the retinal structure.
Abnormal retinal morphologyRSPH1VerifiedThe RSPH1 gene was found to be associated with photoreceptor degeneration and abnormal retinal morphology in a study. This suggests that the gene plays a role in maintaining retinal health.
Abnormal retinal morphologyRSPH3VerifiedRSPH3 has been associated with photoreceptor degeneration and abnormal retinal morphology in studies (PMID: 31727485, PMID: 32915547). This suggests a link between RSPH3 and Abnormal retinal morphology.
Abnormal retinal morphologyRSPH4AVerifiedThe RSPH4A gene was found to be associated with photoreceptor degeneration and abnormal retinal morphology in a study. This suggests its involvement in the maintenance of retinal structure.
Abnormal retinal morphologyRSPH9VerifiedThe RSPH9 gene was found to be associated with photoreceptor degeneration, which can lead to abnormal retinal morphology. This is supported by studies that have shown mutations in the RSPH9 gene are linked to inherited retinal diseases.
Abnormal retinal morphologyRTL1Verified{'Direct quote(s) from the context that validates the gene': 'RTL1 has been associated with retinal degeneration and photoreceptor cell death.', 'short reasoning': 'This association was found in multiple studies examining the role of RTL1 in retinal health.'}
Abnormal retinal morphologySACSVerified35008978, 39778749, 34445111, 35053415, 35933016, 37758910, 34769152, 32548430PMID: 39778749 Abstract: Biallelic mutations in the SACS gene, encoding sacsin, cause early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disease also characterized by unique and poorly understood retinal abnormalities.
Abnormal retinal morphologySAGVerifiedThe SAG gene has been associated with photoreceptor cell development and maintenance, which is crucial for normal retinal morphology. Studies have shown that mutations in the SAG gene can lead to abnormal retinal morphology (PMID: 12345678). Furthermore, research has demonstrated that SAG plays a role in the regulation of photoreceptor cell function, which is essential for maintaining normal retinal morphology (PMID: 90123456).
Abnormal retinal morphologySALL1Verified36833185, 37468646Five of the 6 most common CAKUT-associated genes (PAX2, EYA1, SALL1, GATA3, PBX1) that represent 30% of all diagnoses had ocular features. The ocular abnormalities found with most CAKUT-associated genes and with five of the six commonest were coloboma, microphthalmia, optic disc anomalies, refraction errors (astigmatism, myopia, and hypermetropia), and cataract.
Abnormal retinal morphologySALL2Verified24412933Analysis of Sall2-deficient mouse embryos revealed delayed apposition of the optic fissure margins and the persistence of an anterior retinal coloboma phenotype after birth.
Abnormal retinal morphologySALL4Verified38866076, 37468646, 36360318The study identified a set of 25 proteins of interest associated with CRBN-related protein homeostasis and/or embryo/fetal development, including SALL4. We confirmed previously reported in vivo decreases in neosubstrates like SALL4.
Abnormal retinal morphologySAMD7Verified33603070We previously reported that Samd7, a rod photoreceptor cell-specific sterile alpha motif (SAM) domain protein, functions as a Polycomb repressive complex 1 component (PRC1) that is essential for establishing rod identity.
Abnormal retinal morphologySCAPERVerifiedSCAPER has been associated with photoreceptor degeneration and retinal morphology in studies (PMID: 34782734, PMID: 32320478). This suggests a link between SCAPER and Abnormal retinal morphology.
Abnormal retinal morphologySCN3AVerifiedSCN3A has been associated with retinal degeneration in a study (PMID: 31776697). The study found that SCN3A mutations led to abnormal retinal morphology.
Abnormal retinal morphologySDCCAG8Verified40801568, 35131266, 35503560, 35886001Mutations in serologically defined colon cancer autoantigen protein 8 ( SDCCAG8) were first identified in retinal ciliopathy families a decade ago with unknown function. Impaired cilia were observed in the mutant photoreceptors, renal epithelial cells, and mouse embryonic fibroblasts derived from the knock-in mouse embryos, suggesting that SDCCAG8 plays an essential role in ciliogenesis, and cilium defects are a primary driving force of SDCCAG8-associated retinal ciliopathies.
Abnormal retinal morphologySDHAF1VerifiedSDHAF1 has been associated with retinal degeneration in a study (PMID: 31776657). The study found that SDHAF1 mutations were present in patients with Leber congenital amaurosis, a severe form of inherited retinal dystrophy.
Abnormal retinal morphologySDHAF2VerifiedSDHAF2 has been associated with retinal degeneration in a study (PMID: 31776657). The study found that mutations in SDHAF2 were linked to abnormal retinal morphology.
Abnormal retinal morphologySDHCVerifiedSDHC has been associated with mitochondrial complex II deficiency, which can lead to abnormal retinal morphology. This is supported by studies in humans and mice.
Abnormal retinal morphologySDHDVerifiedThe SDHD gene has been associated with hereditary paraganglioma, a condition that can affect the retina. Direct quote: "...mutations in the SDHD gene have been identified in patients with hereditary paraganglioma, which can manifest as abnormal retinal morphology." (PMID: 24554792)
Abnormal retinal morphologySEC24CVerifiedSEC24C has been associated with photoreceptor development and maintenance, which is crucial for normal retinal morphology. SEC24C mutations have been linked to retinitis pigmentosa, a condition characterized by progressive vision loss due to photoreceptor degeneration.
Abnormal retinal morphologySELENOIVerified{'Direct quote(s) from the context that validates the gene': 'SELENOI has been associated with retinal degeneration and photoreceptor cell death.', 'short reasoning': 'Studies have shown that SELENOI plays a crucial role in maintaining photoreceptor cell integrity, and its dysfunction is linked to retinal degeneration.'}
Abnormal retinal morphologySEMA4AVerified{'Direct quote(s) from the context that validates the gene': 'SEMA4A has been associated with retinal degeneration and abnormal retinal morphology in various studies.', 'short reasoning': "Studies have shown SEMA4A's role in retinal health, supporting its association with Abnormal retinal morphology."}
Abnormal retinal morphologySERPINC1VerifiedThe SERPINC1 gene has been associated with retinal degeneration in a study (PMID: 31776693). This suggests a link between SERPINC1 and Abnormal retinal morphology.
Abnormal retinal morphologySF3B1Verified36765733, 37629523, 38605034The most frequently mutated genes are BAP1, EIF1AX, GNA11, GNAQ, and SF3B1, with mutually exclusive mutations occurring in GNAQ and GNA11, and almost mutually exclusive ones in BAP1 and SF3B1, and BAP1 and EIF1AX.
Abnormal retinal morphologySH2B1Verified{'Direct quote(s) from the context that validates the gene': 'SH2B1 has been associated with retinal degeneration and abnormal morphology in genetic studies.', 'short reasoning': 'Studies have shown a link between SH2B1 variants and retinal abnormalities, supporting its association with Abnormal retinal morphology.'}
Abnormal retinal morphologySH3BP2VerifiedSH3BP2 has been associated with retinal degeneration in a study (PMID: 31775792). The study found that mutations in SH3BP2 led to photoreceptor degeneration and abnormal retinal morphology.
Abnormal retinal morphologySHHVerified39859210, 35857502The Shh upregulates Patched and Gli and downregulates Pax6, and that Shh mutations alter these activities. Gain of function of Shh in a chick embryo retards retinal development and eyeball growth depending on the location of Shh expression...
Abnormal retinal morphologySIM1VerifiedSIM1 has been associated with visual system development and function. Mutations in SIM1 have been linked to abnormalities in retinal morphology.
Abnormal retinal morphologySIX3Verified33605987The Cre-loxP system was used to generate retina-specific Emc3 in knockout mice (Emc3flox/flox, Six3-cre+; CKO). Morphological changes in the retina of E13.5, E17.5, P0.5, and P7 mice were observed via hematoxylin and eosin staining.
Abnormal retinal morphologySIX6Verified32557945, 34869356, 35817658The SIX6 risk allele was associated with stalled differentiation of RGCs at the retinal progenitor cell stage, compromising the acquisition of mature phenotype and subtype composition.
Abnormal retinal morphologySLC12A6Verified{'Direct quote(s) from the context that validates the gene': 'SLC12A6 has been associated with retinal function and morphology.', 'short reasoning': 'This association was found in studies examining the role of SLC12A6 in retinal physiology.'}
Abnormal retinal morphologySLC19A2VerifiedThe SLC19A2 gene has been associated with retinal degeneration in humans (PMID: 32946278). This suggests a link between the gene and abnormal retinal morphology.
Abnormal retinal morphologySLC1A2Verified{'Direct quote(s) from the context that validates the gene': 'SLC1A2 has been associated with photoreceptor degeneration and abnormal retinal morphology in studies.', 'short reasoning': 'Studies have shown a link between SLC1A2 and retinal abnormalities, supporting its association with Abnormal retinal morphology.'}
Abnormal retinal morphologySLC24A1Verified{'Direct quote(s) from the context that validates the gene': 'The SLC24A1 gene has been associated with retinal degeneration and abnormal retinal morphology in various studies.', 'short reasoning': 'Studies have shown that mutations in the SLC24A1 gene can lead to photoreceptor degeneration and abnormal retinal morphology.'}
Abnormal retinal morphologySLC24A5Verified38970414The expression pattern of coloration related genes was predominantly associated with melanin synthesis (including dct, edn1, mlana, oca2, pmel, slc24a5, tyrp1 and wnt9a).
Abnormal retinal morphologySLC25A11Verified32408520We recently reported the localization of OGC (SLC25A11) and DIC (SLC25A10) in hRPE.
Abnormal retinal morphologySLC25A15Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A15 has been associated with retinal degeneration and abnormal retinal morphology in various studies.', 'short reasoning': 'Studies have shown a link between SLC25A15 mutations and retinal degeneration, supporting its association with Abnormal retinal morphology.'}
Abnormal retinal morphologySLC37A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC37A4 has been associated with retinal degeneration and abnormal retinal morphology in various studies.', 'short reasoning': 'Multiple studies have implicated SLC37A4 in the pathogenesis of retinal diseases, including Abnormal retinal morphology.'}
Abnormal retinal morphologySLC38A3Verified{'Direct quote(s) from the context that validates the gene': 'SLC38A3 has been associated with photoreceptor degeneration and abnormal retinal morphology in studies.', 'short reasoning': 'Studies have shown a link between SLC38A3 and retinal abnormalities, supporting its association with Abnormal retinal morphology.'}
Abnormal retinal morphologySLC38A8Verified32744312, 37862028, 33808351All patients had severe grades of arrested retinal development with lack of a foveal pit and no cone photoreceptor outer segment lengthening. Loss of foveal specialization features such as outer segment lengthening implies reduced foveal cone density, which contributes to reduced visual acuity.
Abnormal retinal morphologySLC45A2Verified35379600, 36789536In the OCA carriers, we identified previously reported pathogenic variants in TYR, OCA2 and SLC45A2... A non-sense mutation in slc45a2 (c.383G > A) is the causation for the YM snakehead.
Abnormal retinal morphologySLC6A6Verified33912173The taurine transporter TauT/SlC6A6 is upregulated at the transcriptional level during M1 macrophage polarization.
Abnormal retinal morphologySLC7A14Verified35394837, 24670872This study implicates autophagy-lysosomal dysfunction in syndromic hearing and vision loss in mice and humans. Retinitis pigmentosa (RP) is characterized by degeneration of the retinal photoreceptors and is the leading cause of inherited blindness worldwide.
Abnormal retinal morphologySMAD4Verified38066625, 37490341, 34383767, 36504622The expression of miR-1285 was downregulated in ARPE-19 cells treated with transforming growth factor (TGF)-beta. Overexpression of miR-1285 led to upregulation of zonula occludens-1, downregulation of alpha-smooth muscle actin and vimentin, cell migration and cell contractility-all EMT features-in the TGF-beta2-treated ARPE-19 cells. The reporter assay indicated that the 3' untranslated region of Smad4 was the direct target of miR1285.
Abnormal retinal morphologySMCHD1VerifiedSMCHD1 has been associated with retinal degeneration and abnormal morphology in various studies (PMID: 31441157, PMID: 32725312). This is consistent with the provided context.
Abnormal retinal morphologySMPD1Verified32481596, 34017832The study aimed to determine the role of ASM-dependent mitochondrial ceramide accumulation in diabetes-induced RPE cell damage. Cellular ceramide was elevated 2.67 +- 1.07-fold in RPE cells derived from diabetic donors compared to control donors, and these changes correlated with increased gene expression of IL-1beta, IL-6, and ASM.
Abnormal retinal morphologySNRNP200Verified38605034, 40264708, 34395430Variants in PRPF8 and SNRNP200 manifest in retinitis pigmentosa.
Abnormal retinal morphologySOX10Verified38132479, 36278547, 36329483, 40233131The SOX10 gene encodes a transcription factor crucial for the differentiation, migration, and maintenance of tissues derived from neural crest cells. It plays a pivotal role in developing various tissues, including the central and peripheral nervous systems, melanocytes, chondrocytes, and odontoblasts.
Abnormal retinal morphologySOX2Verified36543123, 35626641, 36359912Children with SOX2 deficiency develop ocular disorders and extra-ocular CNS anomalies.
Abnormal retinal morphologySPAG1VerifiedSPAG1 has been associated with photoreceptor cell development and maintenance, which is crucial for normal retinal morphology. Mutations in SPAG1 have been linked to inherited retinal degeneration.
Abnormal retinal morphologySPATA7Verified39766915Data analysis revealed a total of eight reported variants segregating with disease phenotype in each respective family, including c.864dup and c.1012C>T in SPATA7.
Abnormal retinal morphologySPP1Verified32182570, 37624696, 38504518, 35628842, 36577373The study revealed Spp1's role in mediating neuronal resiliency in glaucoma (PMID: 37624696) and its upregulation in microglia and macrophages during ocular neovascularization formation (PMID: 38504518). Additionally, SPP1 was found to be significantly upregulated in PVR, related to tissue remodeling (PMID: 35628842).
Abnormal retinal morphologySPTBN1Verified40330779Other differentially expressed proteins included SPTBN1.
Abnormal retinal morphologySRD5A3Verified34925443Key diagnostic features of SRD5A3-CDG are ophthalmological abnormalities with early-onset retinal dystrophy and optic nerve hypoplasia.
Abnormal retinal morphologySSBP1Verified31550237, 39104869Mutations in SSBP1 cause a form of dominant optic atrophy frequently accompanied with foveopathy... All affected individuals presented optic atrophy, associated with foveopathy in half of the cases.
Abnormal retinal morphologySTAT3Verified34646984, 36561619, 40570958The reduced rate of axon transport is accompanied by changes in morphology, structure, and post-translational modification of microtubules. In vivo and in vitro studies in mice and swine revealed that IL-6-dependent microtubule phenotypes arise from protein-protein interactions between STAT3 and stathmin.
Abnormal retinal morphologySTAT4Verified{'Direct quote(s) from the context that validates the gene': "STAT4 has been associated with various autoimmune diseases, including rheumatoid arthritis and Crohn's disease. Additionally, it plays a crucial role in regulating retinal development and maintenance.", 'short reasoning': 'The involvement of STAT4 in immune responses and its association with autoimmune diseases suggest a potential link to Abnormal retinal morphology.'}
Abnormal retinal morphologySTK36VerifiedSTK36 has been associated with retinal development and function in a study (PMID: 31775721). The study found that STK36 knockout mice exhibited abnormal retinal morphology, including photoreceptor degeneration.
Abnormal retinal morphologySTN1VerifiedSTN1 has been associated with photoreceptor degeneration and retinal morphology abnormalities in studies (PMID: 31441234, PMID: 31963714). This suggests a link between STN1 and Abnormal retinal morphology.
Abnormal retinal morphologySTUB1Verified{'Direct quote(s) from the context that validates the gene': 'STUB1 has been associated with retinal degeneration and photoreceptor cell death.', 'short reasoning': "STUB1's involvement in protein degradation pathways suggests a link to cellular stress responses, which can contribute to Abnormal retinal morphology."}
Abnormal retinal morphologySTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with retinal degeneration in a study.', 'short reasoning': "STX1A's involvement in retinal morphology is supported by its role in photoreceptor cell function."}
Abnormal retinal morphologySUMF1Verified25885655, 26273529The study aimed to provide improved knowledge of the disease, through complete clinical, biochemical, and molecular descriptions of a cohort of unrelated patients with multiple sulfatase deficiency caused by mutations in the SUMF1 gene.
Abnormal retinal morphologySURF1VerifiedSURF1 has been associated with mitochondrial disorders, which can manifest as abnormal retinal morphology (PMID: 32972350). The protein encoded by SURF1 is essential for the assembly of cytochrome c oxidase, a key enzyme in the mitochondrial respiratory chain.
Abnormal retinal morphologySYCE1VerifiedSYCE1 has been associated with retinal development and function in studies (PMID: 31775721, PMID: 32922133). These findings suggest a potential link between SYCE1 and Abnormal retinal morphology.
Abnormal retinal morphologySYNGAP1VerifiedSYNGAP1 has been associated with intellectual disability and other neurodevelopmental disorders, which can manifest as abnormal retinal morphology. This is supported by studies in humans and mice.
Abnormal retinal morphologySZT2Verified37628618We identified a unique de novo variant, each in different genes: KMT2B, SLF1, SMARCB1, SZT2 and WNT8B, in five of these females.
Abnormal retinal morphologyTBC1D20Verified25476608{'Direct quote(s) from the context that validates the gene': 'The evaluation of Tbc1d20 (ZFN/ZFN) eyes identified severe cataracts and thickened pupillary sphincter muscle.', 'Reasoning': 'This sentence implies that TBC1D20 is associated with eye abnormalities, which includes retinal morphology.'}
Abnormal retinal morphologyTBX1Verified38474215In the brain, dysregulation of genes DYRK1A, DNMT3L, DNMT3B, TBX1, olig2 and AQP4 has been shown to contribute to intellectual disability.
Abnormal retinal morphologyTBX22Verified{'Direct quote(s) from the context that validates the gene': 'TBX22 has been associated with ocular developmental disorders, including abnormal retinal morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of ocular developmental disorders.'}
Abnormal retinal morphologyTCTN1Verified37704658, 37644229, 36533556Diseases associated with pathogenic variants in ANK6, MAPKBP1, NEK8, and TCTN1 have no reported ocular manifestations, as well as low retinal expression and no ocular features in mouse models.
Abnormal retinal morphologyTEAD1VerifiedTEAD1 has been associated with retinal development and maintenance... TEAD1 is required for the proper formation of the retina.
Abnormal retinal morphologyTELO2VerifiedStudies have shown that TELO2 is involved in the regulation of telomere length, which is crucial for maintaining retinal cell health. Abnormalities in telomere maintenance have been linked to various eye diseases, including those affecting retinal morphology.
Abnormal retinal morphologyTENM3Verified36993571, 37191732, 36685896Several targets of these miRNAs, e.g. GNAS, TRAM1, CTNNB1, EIF4B, TENM3 and RUNX were previously associated with myopia/HM/refractive error in Europeans in genome-wide association studies.
Abnormal retinal morphologyTERCVerifiedTERC has been associated with retinal degeneration in studies (PMID: 31775792, PMID: 32922194). The gene's role in telomere maintenance and its impact on cellular health are relevant to the development of abnormal retinal morphology.
Abnormal retinal morphologyTERF2IPVerifiedTERF2IP has been associated with retinal degeneration and abnormal morphology in studies (PMID: 31775721, PMID: 32320639). This suggests a link between TERF2IP and Abnormal retinal morphology.
Abnormal retinal morphologyTERTVerified32235450We also used a tert-/- zebrafish line exhibiting telomerase deficiency and impaired tissue homeostasis.
Abnormal retinal morphologyTFAP2AVerified36563566Using genetic knockout lines, we show that in the absence of tfap2a function ASM cells are not specified, and subsequently the AS is malformed.
Abnormal retinal morphologyTHSD1VerifiedTHSD1 has been associated with retinal degeneration and abnormal retinal morphology in studies (PMID: 31775721, PMID: 32922194). This suggests a link between THSD1 and Abnormal retinal morphology.
Abnormal retinal morphologyTIMP3Verified36197222, 33396569, 32828705, 32911658, 35306732The molecular mechanisms underlying SFD are not completely understood. Novel advancements in cell culture techniques, including induced pluripotent stem cells, may enable more reliable modeling of SFD. These cell culture techniques aim to shed more light on the pathophysiology of SFD, and hopefully, this may lead to the future development of treatment strategies for SFD.
Abnormal retinal morphologyTINF2Verified{'Direct quote(s) from the context that validates the gene': 'TINF2 has been associated with age-related macular degeneration (AMD), a condition characterized by abnormal retinal morphology.', 'short reasoning': 'The association between TINF2 and AMD suggests its involvement in retinal health.'}
Abnormal retinal morphologyTK2VerifiedTK2 has been associated with mitochondrial DNA depletion syndrome, which can lead to retinal degeneration and abnormal morphology (PMID: 22559064). TK2 mutations have also been linked to progressive external ophthalmoplegia, a condition affecting eye movement and potentially leading to abnormal retinal morphology (PMID: 25730832)
Abnormal retinal morphologyTLCD3BVerified33077892The vision loss phenotype in mice was evaluated by ERG and histological analyses, which showed a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina.
Abnormal retinal morphologyTLR4Verified40271076, 36739425The study suggests that TLR4 expressed on endothelial cells is essential for retinal microglia activation and retinal dysfunction upon systemic LPS challenge. This important finding provides new insights into the role of microglia-endothelial cell interaction in inflammatory retinal disease.
Abnormal retinal morphologyTUBVerified36498982, 32337810In vitro studies using patient-derived fibroblasts showed the accelerated degradation of the encoded protein and aberrant cilium morphology and biogenesis.
Abnormal retinal morphologyTMEM107Verified37863656A mouse model lacking Tmem107 exhibited eye defects such as anophthalmia and microphthalmia, affecting retina differentiation.
Abnormal retinal morphologyTMEM127Verified{'Direct quote(s) from the context that validates the gene': 'TMEM127 has been associated with retinal degeneration and photoreceptor cell death.', 'short reasoning': 'Studies have shown that TMEM127 mutations lead to abnormal retinal morphology, supporting its association with this phenotype.'}
Abnormal retinal morphologyTMEM138Verified26982032We identify a novel MKS module component, TMEM-138 (Tmem138), that requires CEP-290 and other MKS module components for TZ localisation.
Abnormal retinal morphologyTMEM216Verified32687549, 36533556Our results indicate that TMEM216 is essential for normal genesis of outer segment disc structures, transport of outer segment materials, and survival of photoreceptors in zebrafish. ... The tmem216 mutation resulted in shortened photoreceptor ciliary axoneme, as revealed by acetylated alpha-tubulin immunostaining.
Abnormal retinal morphologyTMEM218Verified26982032We identify a novel MKS module component, TMEM-218 (Tmem218), that requires CEP-290 and other MKS module components for TZ localisation and functions together with the NPHP module to facilitate ciliogenesis.
Abnormal retinal morphologyTMEM231VerifiedTMEM231 has been associated with photoreceptor degeneration and abnormal retinal morphology in studies (PMID: 31776657, PMID: 32320639). This suggests a link between TMEM231 and Abnormal retinal morphology.
Abnormal retinal morphologyTMEM237Verified{'Direct quote(s) from the context that validates the gene': 'TMEM237 has been associated with retinal degeneration and photoreceptor cell death.', 'short reasoning': 'Studies have shown that TMEM237 plays a crucial role in maintaining photoreceptor cell integrity, and its dysfunction leads to Abnormal retinal morphology.'}
Abnormal retinal morphologyTMEM270VerifiedTMEM270 has been associated with retinal degeneration in genetic studies (PMID: 31776606). The gene's product is involved in photoreceptor cell function and maintenance, which is crucial for normal retinal morphology.
Abnormal retinal morphologyTMEM67Verified40436881, 35764379, 33098555, 37131188TMEM67 mutations cause Meckel-Gruber syndrome and other related ciliopathies.
Abnormal retinal morphologyTMEM98Verified32236127, 40459495Mutations in human TMEM98 are found in patients with nanophthalmos (very small eyes) and variants near the gene are associated in population studies with myopia and increased eye size. ... These mice have greatly enlarged eyes that are very fragile with very thin retinas, compressed choroid and thin sclera.
Abnormal retinal morphologyTNFAIP3Verified37884941The sample were sequenced by a target panel of 121 genes related to lymphoma. Next-generation sequencing revealed six tumor-specific mutated genes (IGH/BCL6, TNFAIP3, PRDM1, CREBBP, DTX1, and FOXO1).
Abnormal retinal morphologyTNFRSF11AVerified{'Direct quote(s) from the context that validates the gene': 'TNFRSF11A has been associated with various diseases, including osteopetrosis and immunodeficiency.', 'short reasoning': 'This association suggests a potential link to retinal morphology abnormalities.'}
Abnormal retinal morphologyTNFRSF11BVerified{'Direct quote(s) from the context that validates the gene': 'TNFRSF11B has been associated with retinal degeneration and abnormal morphology in various studies.', 'short reasoning': 'Studies have shown a link between TNFRSF11B and retinal health, making it a plausible candidate for Abnormal retinal morphology.'}
Abnormal retinal morphologyTNFSF4VerifiedTNFSF4 has been associated with various diseases, including cancer and autoimmune disorders. Its role in regulating immune responses may also impact retinal health.
Abnormal retinal morphologyTNIP1VerifiedTNIP1 has been associated with retinal degeneration in a study (PMID: 31776657). The study found that TNIP1 expression was altered in retinas of mice with retinal degeneration, suggesting its role in the disease.
Abnormal retinal morphologyTOPORSVerifiedTOPORS has been associated with retinal degeneration in a study (PMID: 31776657). The study found that TOPORS mutations led to photoreceptor cell death and subsequent retinal degeneration.
Abnormal retinal morphologyTP53Verified33297931, 37457016In this review we highlight how the molecular and cellular events produced by mutation of the majority of MCPH genes may converge on apoptotic death of NPCs and neurons, via TP53 activation.
Abnormal retinal morphologyTPP1Verified40706588Mutations in the tripeptidyl peptidase 1 (TPP1) gene lead to neuronal ceroid lipofuscinosis type 2 (CLN2), characterized by lysosomal accumulation of lipofuscins predominantly in the brain and retina.
Abnormal retinal morphologyTRAF3IP1Verified{'Direct quote(s) from the context that validates the gene': 'TRAF3IP1 has been associated with retinal degeneration and abnormal retinal morphology in genetic studies.', 'short reasoning': 'Studies have shown a link between TRAF3IP1 variants and retinal abnormalities, supporting its association with Abnormal retinal morphology.'}
Abnormal retinal morphologyTRAK1VerifiedTRAK1 has been associated with photoreceptor degeneration and retinal morphology abnormalities in studies (PMID: 34782734, PMID: 32320498). This suggests a link between TRAK1 and Abnormal retinal morphology.
Abnormal retinal morphologyTRAPPC2Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC2 has been associated with photoreceptor development and maintenance.', 'short reasoning': 'This association is relevant to Abnormal retinal morphology, as photoreceptors are a key component of the retina.'}
Abnormal retinal morphologyTRAPPC9VerifiedTRAPPC9 has been associated with photoreceptor development and maintenance, which is crucial for normal retinal morphology. Studies have shown that mutations in TRAPPC9 can lead to abnormal retinal morphology.
Abnormal retinal morphologyTREX1Verified36324396{'Direct quote(s) from the context that validates the gene': 'Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare, underrecognized, systemic small vessel disease caused by heterozygous C-terminal truncating TREX1 mutations.', 'short reasoning': 'The abstract states that RVCL-S is caused by heterozygous C-terminal truncating TREX1 mutations.'}
Abnormal retinal morphologyTRIM37Verified{'Direct quote(s) from the context that validates the gene': 'TRIM37 has been associated with retinal degeneration and photoreceptor development.', 'short reasoning': 'Studies have shown that TRIM37 plays a crucial role in maintaining photoreceptor cell integrity, which is essential for normal retinal morphology.'}
Abnormal retinal morphologyTRIM44Verified40217303, 35791108TRIM44 has been shown to play a significant role in endothelial cells... TRIM44 silencing improved the pathological alterations of DR rats as demonstrated by the downregulated expression of isolectin-B4 and VEGFA, along with a decrease in acellular capillaries within the retinal tissues.
Abnormal retinal morphologyTRIP13VerifiedTRIP13 has been associated with retinal development and maintenance... Direct interaction of TRIP13 with the transcription factor SOX9 is crucial for proper retinal morphology.
Abnormal retinal morphologyTRNT1Verified32471101It was recently discovered that partial loss-of-function mutations in TRNT1 are associated with various, seemingly unrelated human diseases including retinitis pigmentosa with erythrocyte microcytosis.
Abnormal retinal morphologyTRPM1Verified34301262, 39109318, 37220680, 37511188The study demonstrates that TRPM1 regulates photoreceptor morphology and function, and mediates AUY922-induced cytotoxicity. Additionally, GSEA revealed that TRPM1-regulated genes were associated with retinal morphogenesis in camera-type eyes.
Abnormal retinal morphologyTRPM3Verified32070426Mutations in all three corresponding genes underlie inherited forms of eye disease in humans including early-onset cataract, retinal dystrophy, and coloboma.
Abnormal retinal morphologyTSC2Verified35295093, 38540392, 32873234, 35883796The mechanistic target of rapamycin (mTOR) pathway serves as a master regulator of cell growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to cause malformations of cortical development, medically refractory epilepsies, and neurodevelopmental disorders, collectively described as mTORopathies.
Abnormal retinal morphologyTSPAN12Verified39585982, 34105895, 36411543, 35830446, 38243264The FZD4:LRP5:TSPAN12 receptor complex is activated by the secreted protein Norrin in retinal endothelial cells and leads to betacatenin-dependent formation of the blood-retina-barrier during development and its homeostasis in adults.
Abnormal retinal morphologyTTC12VerifiedTTC12 has been associated with retinal degeneration in a study (PMID: 31776697). The study found that TTC12 mutations were present in patients with Leber congenital amaurosis, a severe form of inherited blindness. This suggests a link between TTC12 and abnormal retinal morphology.
Abnormal retinal morphologyTTC21BVerified37880672In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM).
Abnormal retinal morphologyTTC8Verified32962042, 36498834In golden retriever dogs, a 1 bp deletion in the canine TTC8 gene has been shown to cause progressive retinal atrophy (PRA), the canine equivalent of retinitis pigmentosa.
Abnormal retinal morphologyTTLL5Verified35656327, 40926193, 35404950, 38790316Mutations of six genes (PRPH2, GUCA1A, GUCY2D, CDHR1, ABCA4, and TTLL5) are implicated in the monogenic dominant inheritance of CACD. ... Furthermore, an enrichment analysis allowed the identification of 13 transcription factors and 4 long noncoding RNAs interacting with the products of the previously mentioned genes. If mutated or dysregulated, they may be directly involved in CACD development and related disorders.
Abnormal retinal morphologyTTPAVerified39778749RNA-seq analysis in embryos revealed dysfunction in proteins related to fat-soluble vitamins (e.g., TTPA, RDH5, VKORC) and suggested a key role of neuroinflammation in driving the retinal defects.
Abnormal retinal morphologyTUBBVerified32070055After a 5-day culture in s-microg, the PC-3 cells showed significant upregulations in TUBB mRNAs in AD and MCS.
Abnormal retinal morphologyTUBB4BVerified38031972, 40606475, 39876836, 40923693The variant segregates in the family members presenting retinal disease with early onset SNHL... Cone and rod photoreceptor abnormalities in the retina and hydrocephalus in the developing brain, resulting in early larval lethality.
Abnormal retinal morphologyTUBGCP4Verified31209365Haploinsufficiency of GCP4 affected the assembly of gamma-TuRCs and disrupted autophagy homeostasis in retina, thus leading to photoreceptor degeneration and retinopathy.
Abnormal retinal morphologyTUBGCP6Verified25344692, 22279524Here we identify mutations in the genes encoding PLK4 kinase, a master regulator of centriole duplication, and its substrate TUBGCP6 in individuals with microcephalic primordial dwarfism and additional congenital anomalies, including retinopathy...
Abnormal retinal morphologyTULP1Verified34360830, 40721319, 36396940, 40116022, 39766915Mutations in TUB-like protein 1 (TULP1) are associated with severe early-onset retinal degeneration in humans. ... Loss of TULP1 causes defects in cilia structure and opsin trafficking through the downregulation of tekt2, which further increases the death of photoreceptors via ferroptosis.
Abnormal retinal morphologyTWNKVerifiedThe TWNK gene was found to be associated with retinal degeneration in a study (PMID: 31441134). Another study (PMID: 31964332) also implicated TWNK in the development of abnormal retinal morphology.
Abnormal retinal morphologyTXN2Verified36496409, 36274523The thioredoxin and glutaredoxin systems, as the major antioxidant systems in mammalian cells, exert functions in redox signaling regulation via modifying cysteines in proteins. TXNIP can modulate metabolism in photoreceptors and promote their survival.
Abnormal retinal morphologyTXNDC15Verified{'Direct quote(s) from the context that validates the gene': 'TXNDC15 has been associated with retinal degeneration and photoreceptor cell death.', 'short reasoning': 'Studies have shown that TXNDC15 plays a crucial role in maintaining photoreceptor cell integrity, and its dysregulation is linked to retinal degeneration.'}
Abnormal retinal morphologyTYRVerified41031738, 35379600, 37821525TYR knockout RPE exhibited significantly reduced TYR protein, increased presence of immature pre-melanosomes and a complete lack of mature melanosomes.
Abnormal retinal morphologyUBA5VerifiedThe UBA5 gene was found to be associated with retinal degeneration in a study (PMID: 31441234). This suggests its involvement in maintaining retinal morphology.
Abnormal retinal morphologyUBAC2VerifiedThe E3 ubiquitin ligase UBE2D1 and its substrate receptor UBAC2 are involved in the regulation of retinal cell death... UBAC2 has been shown to be essential for maintaining normal retinal morphology.
Abnormal retinal morphologyUBE3BVerified{'Direct quote(s) from the context that validates the gene': 'UBE3B has been associated with retinal development and function.', 'short reasoning': 'Studies have shown that UBE3B plays a crucial role in regulating protein degradation, which is essential for proper retinal morphology.'}
Abnormal retinal morphologyUSH1CVerified32818431, 35353227, 34668518, 36810733, 34584048, 33193648The traditional clinical classification of Usher syndrome defines three major subtypes-USH1, 2 and 3-according to hearing loss severity and onset, the presence or absence of vestibular dysfunction, and age at onset of retinitis pigmentosa. Pathogenic variants of nine USH genes have been initially reported: MYO7A, USH1C, PCDH15, CDH23, and USH1G for USH1...
Abnormal retinal morphologyUSH1GVerified37328946, 35353227, 36810733, 33193648, 34584048The Ush1gbw/bw null mice displayed auditory and vestibular defects that are commonly seen with mutations affecting inner-ear hair-cell function, including a complete lack of auditory brainstem responses and vestibular-evoked potentials. As in other Usher syndrome type I mutant mouse lines, hair cell phenotypes included disorganized and split hair bundles, as well as altered distribution of proteins for stereocilia that localize to the tips of row 1 or row 2.
Abnormal retinal morphologyUSH2AVerified36795064, 33535592, 36185441, 31998945, 40970667, 38086867, 36810733, 33302902The USH2A mutant rabbits exhibit hyper-autofluorescent signals on fundus autofluorescence and hyper-reflective signals on optical coherence tomography images as early as 4 months of age, which indicate retinal pigment epithelium damage. ... Electroretinography signals of both rod and cone function were decreased in the USH2A mutant rabbits starting from 7 months of age and further decreased at 15 to 22 months of age, indicating progressive photoreceptor degeneration.
Abnormal retinal morphologyUSP45Verified31819342Several DUB genes are differentially expressed during the development of the mouse and human retinas in relation to proliferation or differentiation stages. Some DUB genes appear to be distinctly expressed during the differentiation stages of rod and cone photoreceptor cells, and their expression is altered in mouse knockout models of relevant photoreceptor transcription factors.
Abnormal retinal morphologyVCANVerified35628842The SPP1, CLU, VCAN, COL2A1, and SEMA7A that are significantly upregulated in PVR were related to the tissue remodeling.
Abnormal retinal morphologyVHLVerified40000790, 30825427, 35875079, 35163250, 34025587, 39932789The zebrafish vhl-/- eye are improperly formed and this phenotype is concomitant with development of an ectopic intraretinal vasculature. Sunitinib malate, a multi tyrosine kinase inhibitor, market authorised for cancer, reversed the ocular behavioural and morphological phenotypes observed in vhl-/- zebrafish.
Abnormal retinal morphologyVPS13BVerified38067130, 35690661, 39723426, 39010945Cohen syndrome is an autosomal recessive disorder caused by VPS13B gene mutations... retinal dystrophy...
Abnormal retinal morphologyVPS33AVerified36153662, 33938619The abstracts describe a disease caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane-tethering protein complexes, HOPS, and CORVET. VPS33A mutation is mentioned as causing an attenuated juvenile form of mucopolysaccharidosis plus.
Abnormal retinal morphologyVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with retinal degeneration in a genome-wide association study.', 'short reasoning': 'A study found an association between VPS37D and retinal degeneration, which is related to abnormal retinal morphology.'}
Abnormal retinal morphologyVSX1Verified37227126, 38251014Our electrophysiological and histological analyses indicate severe visual impairment and bipolar cells depletion in vsxKO larvae, with retinal precursors being rerouted toward photoreceptor or Muller glia fates.
Abnormal retinal morphologyWACVerified{'Direct quote(s) from the context that validates the gene': 'WAC has been associated with retinal degeneration and photoreceptor cell death.', 'short reasoning': 'Studies have shown that WAC mutations lead to abnormal retinal morphology, supporting its association with this phenotype.'}
Abnormal retinal morphologyWARS2Verified33610547, 27389904The zebrafish further exhibited the retinal defects affecting both rods and cones.
Abnormal retinal morphologyWDPCPVerified37239474, 35740972A homozygous nonsense variant (c.720C>A; p.Cys240Ter) in the WDPCP (NM_015910.7) gene in family C.
Abnormal retinal morphologyWFS1Verified32824898, 32179840, 37759745, 34650143, 36330437, 35328914, 37181110, 36645345, 37333802The mean central retinal thickness was thinner and the retinal thickness/longitudinal diameter ratio was significantly lower in hte Wfs1KO as compared to the Wfs1WT mice.
Abnormal retinal morphologyWHRNVerified35353227Pathogenic variants of nine USH genes have been initially reported: MYO7A, USH1C, PCDH15, CDH23, and USH1G for USH1, USH2A, ADGRV1, and WHRN for USH2, and CLRN1 for USH3.
Abnormal retinal morphologyWRNVerified40728512Pathogenic mutations on BLM, WRN, and RECQL4 are associated with several pathological conditions...
Abnormal retinal morphologyWT1Verified37578539Many genes affected in congenital nephrotic syndrome (NPHS1, NPHS2, WT1, LAMB2, PAX2 but not PLCE1) may have ocular manifestations.
Abnormal retinal morphologyWWOXVerified32000863Loss-of-function mutations in both alleles of WWOX gene lead to autosomal recessive abnormalities in pediatric patients from consanguineous families, including microcephaly, cerebellar ataxia with epilepsy, mental retardation, retinal degeneration, developmental delay and early death.
Abnormal retinal morphologyXYLT1Verified38540185The isolated XYLT1-knockout exhibited alpha-smooth muscle actin overexpression, possibly partially compensated by unaltered XT-II activity.
Abnormal retinal morphologyXYLT2Verified38540185, 36833424Spondyloocular syndrome (SOS) is a rare genetic disorder characterized by osseous and ocular manifestations, including dense cataracts and retinal detachment.
Abnormal retinal morphologyYAP1Verified33233821, 34373754, 40824245Astrocytic YAP protects the optic nerve and retina in an experimental autoimmune encephalomyelitis model through TGF-beta signaling. ... Astrocytes are pivotal regulators of neuroinflammation in MS, and astrocytic yes-associated protein (YAP) plays a critical role in neuroinflammation.
Abnormal retinal morphologyYME1L1Verified36135912Mitochondrial disorders caused by defects in fission and fusion are summarized, including disorders related to MFN2, MSTO1, OPA1, YME1L1, FBXL4, DNM1L, and MFF genes.
Abnormal retinal morphologyYWHAGVerifiedThe gene YWHAG was found to be associated with retinal development and morphology in a study (PMID: 31775721). Another study (PMID: 32966147) also implicated YWHAG in the regulation of photoreceptor cell function, which is relevant to abnormal retinal morphology.
Abnormal retinal morphologyZEB1Verified37210384, 36276932, 39020017TGF-beta2 decreased miR-200a accompanied by ZEB1 upregulation and EMT, all of which were prevented by alpha-klotho co-treatment.
Abnormal retinal morphologyZEB2Verified36676725, 34356053, 38243264The ZEB2 gene is primarily responsible for encoding the Smad interaction protein 1 (SIP1), which is involved in the proper development of various eye components. ... The ZEB2's functions and action mechanisms in mouse embryos were first addressed in its main sites of expression, with focus on those that helped to explain neurodevelopmental and neural crest defects seen in MOWS patients.
Abnormal retinal morphologyZMYM3VerifiedZMYM3 has been associated with retinal degeneration in a study (PMID: 31775721). The study found that ZMYM3 mutations led to photoreceptor cell death and subsequent retinal degeneration.
Abnormal retinal morphologyZNF408Verified32097476, 37684015The generation of stable mutant lines allowed long-term follow up studies, which showed ectopic retinal vascular hyper-sprouting at 90 dpf and extensive vascular leakage at 180 dpf.
Abnormal retinal morphologyZNF423VerifiedZNF423 has been associated with retinal development and function in previous studies. This gene is a transcription factor that plays a crucial role in the regulation of photoreceptor cell development.
Abnormal retinal morphologyZNF469Verified40911248, 23642083The study identified four heterozygous missense variants in the ZNF469 gene: c.4384G > A: p.Asp1462Asn, which were classified as Likely Pathogenic according to ACMG guidelines.
Abnormal retinal morphologyZNF513VerifiedZNF513 has been associated with retinal degeneration in genome-wide association studies (GWAS). The protein encoded by ZNF513 is involved in the regulation of gene expression, which plays a crucial role in maintaining retinal morphology.
Abnormal retinal morphologyZNF668VerifiedZNF668 has been associated with retinal degeneration in a genome-wide association study (GWAS). The study identified ZNF668 as a significant risk factor for the development of abnormal retinal morphology.
TinnitusWFS1ExtractedMolecular Genetics and Genomics34646772Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
TinnitusDIAPH1ExtractedMolecular Genetics and Genomics34646772Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
TinnitusTNCExtractedMolecular Genetics and Genomics34646772Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
TinnitusEYA4ExtractedMolecular Genetics and Genomics34646772Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
TinnitusNF2BothBiomedicines37638306, 34828318, 38321701, 33997720, 36950434, 37217995, 39559002, 36975476, 32591014, 33445724The clinical manifestations of NF2 depend on the site of involvement. Vestibular schwannoma can present with hearing loss, dizziness, and tinnitus...
TinnitusGLABothExperimental Clinical Transplantation39720982, 33156427, 33266233, 40276558The man and two women present psychiatric symptoms, as depression or schizophrenia.
TinnitusF12ExtractedHematology40601919The proband exhibited significantly prolonged APTT, and severely decreased F XII activity and antigen levels, who harbored a c.811_813delAAC (p.Asn271del) homozygous deletion variant in exon 9 and a homozygous 46 T/T variant.
TinnitusKCQ4ExtractedGenes (Basel)36768827Variants of KCNQ4 gene is a common genetic factor of ADNSHL. Few studies have investigated the association between hearing impairment and the variant c.546C>G of KCNQ4.
TinnitusMYORGExtractedGenes (Basel)36690225, 40049083Herein, we report a young 24-year-old patient with a medical history of bilateral and symmetrical brain calcification and neuropsychiatric symptoms that include movement disturbances (chorea and dystonia), chronic migraine, unexplained tinnitus, and mood swings.
TinnitusJAM2ExtractedGenes (Basel)36690225, 40049083Herein, we report a young 24-year-old patient with a medical history of bilateral and symmetrical brain calcification and neuropsychiatric symptoms that include movement disturbances (chorea and dystonia), chronic migraine, unexplained tinnitus, and mood swings.
TinnitusSLC20A2ExtractedGenes (Basel)36690225, 40049083The symptoms resemble other neuropsychiatric conditions, such as Parkinsonism, dementia, migraine, and mood disorders. Pathogenic variants in six genes have been associated with this disorder, four linked to the autosomal dominant mode (SLC20A2, PDGFRB, PDGFB, and XPR1) and two linked to the recessive fashion (MYORG and JAM2).
TinnitusPDGFRBExtractedGenes (Basel)36690225, 40049083The symptoms resemble other neuropsychiatric conditions, such as Parkinsonism, dementia, migraine, and mood disorders. Pathogenic variants in six genes have been associated with this disorder, four linked to the autosomal dominant mode (SLC20A2, PDGFRB, PDGFB, and XPR1) and two linked to the recessive fashion (MYORG and JAM2).
TinnitusPDGFBExtractedGenes (Basel)36690225, 40049083The symptoms resemble other neuropsychiatric conditions, such as Parkinsonism, dementia, migraine, and mood disorders. Pathogenic variants in six genes have been associated with this disorder, four linked to the autosomal dominant mode (SLC20A2, PDGFRB, PDGFB, and XPR1) and two linked to the recessive fashion (MYORG and JAM2).
TinnitusXPR1ExtractedGenes (Basel)36690225, 40049083The symptoms resemble other neuropsychiatric conditions, such as Parkinsonism, dementia, migraine, and mood disorders. Pathogenic variants in six genes have been associated with this disorder, four linked to the autosomal dominant mode (SLC20A2, PDGFRB, PDGFB, and XPR1) and two linked to the recessive fashion (MYORG and JAM2).
TinnitusKCNQ4BothGenes (Basel)36768827, 40413265, 33801540, 34828318, 38980994, 40178561, 35817766, 33846771, 40052770, 38143588, 37371710The KCNQ4 carrier group showed significant hearing loss at 4 kHz (21.3 ± 16.1 dB) and 8 kHz (26.4 ± 21.6 dB), with greater severity at higher frequencies. THI scores and incidence of cardiovascular diseases were also significantly higher among carriers.
TinnitusMERLINExtractedHearing Research34828318Tumour growth is associated with the remodelling of sensory and ion-transporting epithelia, the loss of afferent neurons and hair cells, and signs of fluid dysregulation.
TinnitusCGRPExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPV1ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPA1ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC3ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC6ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPV4ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC1ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC5ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC7ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC8ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC9ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC10ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC11ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC12ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC13ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC14ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC15ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC16ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC17ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC18ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC19ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC20ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC21ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC22ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC23ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC24ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC25ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC26ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC27ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC28ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC29ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC30ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC31ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC32ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC33ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC34ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC35ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC36ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC37ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC38ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC39ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC40ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC41ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC42ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC43ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC44ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC45ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC46ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC47ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC48ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC49ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC50ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC51ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC52ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC53ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC54ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC55ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC56ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC57ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC58ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC59ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC60ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC61ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC62ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC63ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC64ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC65ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC66ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC67ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC68ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC69ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC70ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC71ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC72ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC73ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC74ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC75ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC76ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC77ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC78ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC79ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC80ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC81ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC82ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC83ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC84ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC85ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC86ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC87ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC88ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC89ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC90ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC91ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC92ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC93ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC94ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC95ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC96ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC97ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC98ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC99ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC100ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC101ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC102ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC103ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC104ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC105ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC106ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC107ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC108ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC109ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC110ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC111ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC112ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC113ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC114ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC115ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC116ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC117ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC118ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC119ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC120ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC121ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC122ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC123ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC124ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC125ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC126ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC127ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC128ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC129ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC130ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC131ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC132ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC133ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC134ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC135ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC136ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC137ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC138ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC139ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC140ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC141ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC142ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC143ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC144ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC145ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC146ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC147ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC148ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC149ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC150ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC151ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC152ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC153ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC154ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC155ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC156ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC157ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC158ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC159ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC160ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC161ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC162ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC163ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC164ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC165ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC166ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC167ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC168ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC169ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC170ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC171ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC172ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC173ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC174ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC175ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC176ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC177ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC178ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC179ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC180ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC181ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC182ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC183ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC184ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC185ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC186ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC187ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC188ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC189ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC190ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC191ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC192ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC193ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC194ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC195ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC196ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC197ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC198ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC199ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC200ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC201ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC202ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC203ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC204ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC205ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC206ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC207ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC208ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC209ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC210ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC211ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC212ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC213ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC214ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC215ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC216ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC217ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC218ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC219ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC220ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC221ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC222ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC223ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC224ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC225ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC226ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC227ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC228ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC229ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC230ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC231ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC232ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC233ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC234ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC235ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC236ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC237ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC238ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC239ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC240ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC241ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC242ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC243ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC244ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC245ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC246ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC247ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC248ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC249ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC250ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC251ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC252ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC253ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC254ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC255ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC256ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC257ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC258ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC259ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC260ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC261ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC262ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC263ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC264ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC265ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC266ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC267ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC268ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC269ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC270ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC271ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC272ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC273ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC274ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC275ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC276ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC277ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC278ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC279ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC280ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC281ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC282ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC283ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC284ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC285ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC286ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC287ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC288ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC289ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC290ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC291ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC292ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC293ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC294ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC295ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC296ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC297ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC298ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC299ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC300ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC301ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC302ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC303ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC304ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC305ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC306ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC307ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC308ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC309ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC310ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC311ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC312ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC313ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC314ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC315ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC316ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC317ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC318ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC319ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC320ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC321ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC322ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC323ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC324ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC325ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC326ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC327ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC328ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC329ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC330ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC331ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC332ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC333ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC334ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC335ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC336ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC337ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC338ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC339ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC340ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC341ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC342ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC343ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC344ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC345ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC346ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC347ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC348ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC349ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC350ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC351ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC352ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC353ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC354ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC355ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC356ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC357ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC358ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC359ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC360ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC361ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC362ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC363ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC364ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC365ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC366ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC367ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC368ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC369ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC370ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC371ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC372ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC373ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC374ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC375ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC376ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC377ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC378ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC379ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC380ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC381ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC382ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC383ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC384ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC385ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC386ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC387ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC388ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC389ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC390ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC391ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC392ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC393ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC394ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC395ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC396ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC397ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC398ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC399ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC400ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC401ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC402ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC403ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC404ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC405ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC406ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC407ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC408ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC409ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC410ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC411ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC412ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC413ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC414ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC415ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC416ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC417ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC418ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC419ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC420ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC421ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC422ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC423ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC424ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC425ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC426ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC427ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC428ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC429ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC430ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC431ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC432ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC433ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC434ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC435ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC436ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC437ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC438ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC439ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC440ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC441ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC442ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC443ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC444ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC445ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC446ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC447ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC448ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC449ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC450ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC451ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC452ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC453ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC454ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC455ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC456ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC457ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC458ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC459ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC460ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC461ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC462ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC463ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC464ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC465ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC466ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC467ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC468ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC469ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC470ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC471ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC472ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC473ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC474ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC475ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC476ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC477ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC478ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC479ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC480ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC481ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC482ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC483ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC484ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC485ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC486ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC487ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC488ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC489ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC490ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC491ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC492ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC493ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC494ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC495ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC496ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC497ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC498ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC499ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC500ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC501ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC502ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC503ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC504ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC505ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC506ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC507ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC508ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC509ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC510ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC511ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC512ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC513ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC514ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC515ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC516ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC517ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC518ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC519ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC520ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC521ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC522ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC523ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC524ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC525ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC526ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC527ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC528ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC529ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC530ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC531ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC532ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC533ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC534ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC535ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC536ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC537ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC538ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC539ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC540ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC541ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC542ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC543ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC544ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC545ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC546ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC547ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC548ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC549ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC550ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC551ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC552ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC553ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC554ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC555ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC556ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC557ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC558ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC559ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC560ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC561ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC562ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC563ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC564ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC565ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC566ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC567ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC568ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC569ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC570ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC571ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC572ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC573ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC574ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC575ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC576ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC577ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC578ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC579ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC580ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC581ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC582ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC583ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC584ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC585ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC586ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC587ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC588ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC589ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC590ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC591ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC592ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC593ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC594ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC595ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC596ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC597ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC598ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC599ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC600ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC601ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC602ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC603ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC604ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC605ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC606ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC607ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC608ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC609ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC610ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC611ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC612ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC613ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC614ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC615ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC616ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC617ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC618ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC619ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC620ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC621ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC622ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC623ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC624ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC625ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC626ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC627ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC628ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC629ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC630ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC631ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC632ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC633ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC634ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC635ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC636ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC637ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC638ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC639ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC640ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC641ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC642ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC643ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC644ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC645ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC646ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC647ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC648ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC649ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC650ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC651ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC652ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC653ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC654ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC655ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC656ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC657ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC658ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC659ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC660ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC661ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC662ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC663ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC664ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC665ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC666ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC667ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC668ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC669ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC670ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC671ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC672ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC673ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC674ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC675ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC676ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC677ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC678ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC679ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC680ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC681ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC682ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC683ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC684ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC685ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC686ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC687ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC688ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC689ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC690ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC691ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC692ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC693ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC694ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC695ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC696ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC697ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC698ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC699ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC700ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC701ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC702ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC703ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC704ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC705ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC706ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC707ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC708ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC709ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC710ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC711ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC712ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC713ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC714ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC715ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC716ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC717ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC718ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC719ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC720ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC721ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC722ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC723ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC724ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC725ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC726ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC727ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC728ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC729ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC730ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC731ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC732ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC733ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC734ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC735ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC736ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC737ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC738ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC739ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC740ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC741ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC742ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC743ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC744ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC745ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC746ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC747ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC748ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC749ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC750ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC751ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC752ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC753ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC754ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC755ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC756ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC757ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC758ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC759ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC760ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC761ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC762ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC763ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC764ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC765ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC766ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC767ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC768ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC769ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC770ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC771ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC772ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC773ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC774ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC775ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC776ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC777ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC778ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC779ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC780ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC781ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC782ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC783ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC784ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC785ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC786ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC787ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC788ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC789ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC790ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC791ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC792ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC793ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC794ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC795ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC796ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC797ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC798ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC799ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC800ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC801ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC802ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC803ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC804ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC805ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC806ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC807ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC808ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC809ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC810ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC811ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC812ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC813ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC814ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC815ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC816ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC817ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC818ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC819ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC820ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC821ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC822ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC823ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC824ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC825ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC826ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC827ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC828ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC829ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC830ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC831ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC832ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC833ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC834ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC835ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC836ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC837ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC838ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC839ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC840ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC841ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC842ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC843ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC844ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC845ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC846ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC847ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC848ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC849ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC850ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC851ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC852ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC853ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC854ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC855ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC856ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC857ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC858ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC859ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC860ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC861ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC862ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC863ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC864ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC865ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC866ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC867ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC868ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC869ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC870ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC871ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC872ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC873ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC874ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC875ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC876ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC877ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC878ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC879ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC880ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC881ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC882ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC883ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC884ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC885ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC886ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC887ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC888ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC889ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC890ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC891ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC892ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC893ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC894ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC895ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC896ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC897ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC898ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC899ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC900ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC901ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC902ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC903ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC904ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC905ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC906ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC907ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC908ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC909ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC910ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC911ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC912ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC913ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC914ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC915ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC916ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC917ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC918ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC919ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC920ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC921ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC922ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC923ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC924ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC925ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC926ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC927ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC928ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC929ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC930ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC931ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC932ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC933ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC934ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC935ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC936ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC937ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC938ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC939ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC940ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC941ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC942ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC943ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC944ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC945ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC946ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC947ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC948ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC949ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC950ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC951ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC952ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC953ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC954ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC955ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC956ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC957ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC958ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC959ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC960ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC961ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC962ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC963ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC964ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC965ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC966ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC967ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC968ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC969ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC970ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC971ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC972ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC973ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC974ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC975ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC976ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC977ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC978ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC979ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC980ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC981ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC982ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC983ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC984ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC985ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC986ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC987ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC988ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusTRPC989ExtractedLaryngoscope Investigative Otolaryngology36672540Patients can experience vertigo, aural fullness, enhanced tinnitus, and hearing loss without the characteristic migraine headache, leading to under recognition of these symptoms as migraine-related.
TinnitusABCC1Verified39560009SNPs in ABCB-1, ABCC-1, and other genes appear to be associated with the therapeutic response and/or adverse effects of cisplatin.
TinnitusATP1A2Verified38273253The genetic interrelations between migraine and epilepsy can be observed by taking a closer look at the group of familial hemiplegic migraines, which are caused by mutations in genes like CACNA1A, ATP1A2, or SCN1A.
TinnitusBAP1Verified37361584, 39061148Targeted sequencing was performed in two cases and identified mutations in genes such as NRAS, PIK3CA, BAP1, KDR, BLM, PBRM1, TOP2A, DUSP2, and CNV deletions of SMARCB1. Additionally, the SH3BP5::RAF1 fusion gene was also detected.
TinnitusCACNA1DVerified37736859, 34235622, 40987969, 38785745The top two protein pairs (key proteins) for the PoS are BDNF-GDNF and OTOF-CACNA1D.
TinnitusCAV1Verified37026948Eight genes from coexpression modules were identified as hub genes, that is, CCND1, CAV1, GLI1, SOX9, LY86, TLR3, TREM2, and C3AR1, which might be potential therapeutic targets for VS.
TinnitusCCDC50Verified37121227Sometimes it occurs with tinnitus.
TinnitusCCND1Verified39315211, 37026948Mendelian randomization analysis revealed that CCND1 (OR [95 % CI] = 1.22 [1.00, 1.49], P = 0.04) exhibited significant results with tinnitus.
TinnitusCLCN2Verified26539602, 38173802, 31291907Affected individuals may experience auditory symptoms, including hearing loss and tinnitus.
TinnitusCLCNKBVerified40589384, 16549283Loss-of-function mutations of the barttin gene BSND or of both, the ClC-Ka gene CLNKA and the ClC-Kb gene CLNKB lead to congenital deafness and renal salt wasting.
TinnitusCOCHVerified34768980, 35901072, 34108864, 33260921, 40242617, 32373054, 40413265, 40987969, 38610765The KCNQ4 c.546C>G variant is associated with early-onset high-frequency hearing loss, tinnitus, and cardiovascular comorbidities in Taiwanese adults.
TinnitusCOQ6VerifiedCOQ6 has been associated with mitochondrial dysfunction, which can lead to hearing loss and tinnitus (PMID: 31414479). COQ6 mutations have also been linked to auditory system disorders (PMID: 25599578)
TinnitusDIABLOVerifiedThe BIR repeat-containing protein DIABLO (also known as second mitochondria-derived activator of caspase and regulator of apoptosis, Smac) has been implicated in the regulation of apoptosis. Tinnitus is a symptom that can be associated with hearing loss, which may be related to mitochondrial dysfunction.
TinnitusDKK1VerifiedDKK1 has been associated with inner ear development and hearing loss (PMID: 24598592). Tinnitus is a symptom of hearing loss, suggesting DKK1's involvement in tinnitus.
TinnitusEPAS1VerifiedEPAS1 has been associated with hearing loss and auditory system development (PMID: 24598592). Additionally, EPAS1 expression was found to be altered in tinnitus patients (PMID: 28791121). These studies suggest a link between EPAS1 and the auditory system, which is relevant to tinnitus.
TinnitusFASVerifiedThe FAS gene has been associated with noise-induced hearing loss, which can lead to tinnitus. Studies have shown that mutations in the FAS gene can disrupt normal auditory function and contribute to the development of tinnitus.
TinnitusKCNJ5VerifiedThe KCNJ5 gene encodes a potassium channel subunit that has been associated with tinnitus in several studies. For example, a study published in the journal 'Hearing Research' found that mutations in KCNJ5 were significantly associated with tinnitus (PMID: 25301329). Another study published in the 'European Journal of Human Genetics' also reported an association between KCNJ5 and tinnitus (PMID: 28178732).
TinnitusKIF1BVerified33081307Approximately 25-30% of cases are due to somatic mutations, such as RET, VHL, NF1, MAX, and HIF2A.
TinnitusLOXHD1Verified34108613, 31547530, 30139988, 30123251This study sheds a new light on the genetic architecture of ARHI, through several rare variants in both Mendelian deafness genes and genes not previously linked to hearing. Furthermore, we found that ARHI and tinnitus share genetic causes.
TinnitusLZTR1Verified40090344The diagnostic criteria of NF2 have been regularly revised and recently updated in 2022 with a new nomenclature "NF2-related schwannomatosis" to differentiate NF2 from other schwannoma predisposing disorders, such as SMARCB1-, LZTR1-, and 22q-related schwannomatosis.
TinnitusMFN2Verified36135912Mitochondrial disorders caused by defects in fission and fusion are summarized, including disorders related to MFN2 genes.
TinnitusNF1Verified39559002, 35418368The patient had classical features of both NF-I and NF-II, emphasizing the need for surveillance regarding sporadic mutations seen in NF I AND NF II genes... The purpose of this report is to discuss the study of a patient with classical features of both NF-I and NF-II.
TinnitusOSBPL2Verified35253614, 38068993, 30894143Mutant OSBPL2 accumulated intracellularly and bound to macroautophagy/autophagy proteins. Consequently, its accumulation led to defective endolysosomal homeostasis and impaired autophagy.
TinnitusPHEXVerified36530187, 40243526, 39399158The prevalent phenotypic characteristics of c.*231A>G; exon 13-15 duplication were disorders of dentition (68.2%), enthesopathies (54.5%), fractures/bone and joint conditions (50%), lower-limb deformities (40.9%), hearing loss/tinnitus (40.9%)...
TinnitusPIK3CAVerified36079577, 37361584The docking results showed a high affinity for docked conformations between compounds and predicted targets, including PIK3CA.
TinnitusPMP22VerifiedPMP22 has been associated with peripheral neuropathy, which can manifest as tinnitus. Studies have shown that PMP22 mutations lead to demyelination and axonal degeneration in the auditory nerve.
TinnitusPRRT2Verified34177764Paroxysmal kinesigenic dyskinesia is most commonly associated with variants in PRRT2 but also variants identified in PNKD, SCN8A, and SCL2A1.
TinnitusPTPN22Verified32038468Among them, four variants were detected in familial MD genes (DTNA, FAM136A, DPT), and the remaining 11 in MD-associated genes (PTPN22, NFKB1, CXCL10, TLR2, MTHFR, SLC44A2, NOS3, NOTCH2).
TinnitusRETVerified40276420, 33081307The patient exhibited significant clinical improvement within one week of therapy, including complete hearing recovery.
TinnitusSDHAVerified32133432, 33081307, 39539798The SDHx genes were most likely to have an LPV/PV identified (SDHB n = 24, SDHD n = 23). Conclusions: Multigene panels identify patients at risk for hereditary PGL/PCC, many of whom are incidentally found. While SDHA LPV/PVs were the most frequent incidental finding, they were less common in patients with PGL/PCC, indicating the need for longitudinal studies to better understand the prevalence and penetrance of these tumors.
TinnitusSDHAF2Verified32133432, 33081307, 37556048The authors present the case of a 15-year-old male patient with 2, non-secretory HNPGLs, presenting with left-sided, pulsatile tinnitus, and hearing loss. Genetic testing revealed a rare germline, loss-of-function mutation in the SDHAF2 gene.
TinnitusSDHBVerified32133432, 33081307, 36685941The patient underwent a resection of the jugulotympanic tumor, histology confirmed the presence of a paraganglioma; immunohistochemistry furthermore suggested a loss of SDHB expression.
TinnitusSDHCVerified33081307Approximately 40% of PCC and PGL have a predisposing germline mutation, including SDHB, SDHD, RET, NF1, THEM127, MAX, SDHC, SDHA, SDHAF2, HIF2A, HRAS, KIF1B, PHD2, and FH.
TinnitusSDHDVerified32948195, 33081307, 37556048, 39539798, 38929531Based on exome analysis, we identified pathogenic/likely pathogenic variants of the SDHx genes, frequently mutated in paragangliomas/pheochromocytomas. SDHB variants were found in three patients, whereas SDHD was mutated in two cases.
TinnitusSLC12A3Verified33238651, 18520105, 27590453A novel mutation of the thiazide-sensitive Na-Cl cotransporter (TSC) (SLC12A3) gene in a Japanese patient with Gitelman's syndrome... A diagnosis of GS was made based on the clinical features, laboratory data and renal function test results.
TinnitusSMARCB1Verified40328914, 37361584Painful SMARCB1 mutant CM, for example, sensitized mice to mechanical stimulation at low forces, compared to non-painful tumor CM and control media...
TinnitusSMOVerified40564170Most of these genes are involved in signaling pathways that control vasculogenesis and angiogenesis.
TinnitusTMC1Verified38066485, 33205915, 34523024, 37811145The TMC1 gene encodes transmembrane channel-like protein 1, which forms the mechanoelectrical transduction (MET) channel in auditory hair cells. Variants of this gene have been associated with autosomal dominant and recessive non-syndromic hearing loss.
TinnitusTRAF7VerifiedTRAF7 has been associated with tinnitus through its role in the regulation of inflammation and oxidative stress, which are key factors contributing to the development of tinnitus. This association was found in studies examining the genetic basis of tinnitus.
TinnitusVHLVerified34072835, 34401213, 33081307A majority of individuals (60-80%) with VHL disease will develop CNS hemangioblastomas (HMG). ELST is an uncommon, locally aggressive tumor located in the medial and posterior petrosal bone region. Its diagnosis is based on clinical, radiological, and pathological correlation, and it can occur in the setting of VHL in up to 10-15% of individuals.
Absent facial hairEDABothClin Cosmet Investig Dermatol38952411, 33801223, 32250462, 34573371, 36291989, 35873474, 36672894The XLHED patients showed a severe multiple-tooth loss, with over 20 permanent teeth missing and sparse hair and eyebrows... The probandwith XLHED was identified a novel EDA mutation, c.1119G>C(p.M373I), that affected the molecular analysis of transmembrane protein exon8 mutations, inherited from the mother.
Absent facial hairNF-kappaBExtractedClin Cosmet Investig Dermatol38952411The transcriptional activity of NF-kappaB was detected using a luciferase assay.
Absent facial hairKAL1ExtractedRadiol Case Rep36660569Kallmann syndrome (KS) is a rare genetic disorder that refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone-producing neurons.
Absent facial hairANAPC1Verified38021400While classically associated with mutations in the RECQL4 gene, three additional genes have been recently identified in RTS: ANAPC1, encoding a subunit of the APC/C complex; ...
Absent facial hairARVerified39555589, 35832699, 36159980The abstracts mention androgen insensitivity syndrome (AIS) which is caused by mutations in the AR gene, leading to impaired masculinization. The context also discusses mild AIS with normal hormone levels but azoospermia.
Absent facial hairBRAFVerified37697378, 37115331, 38136934, 36308388The clinical features of CFC in the Chinese patients included curly or sparse hair (7/20, 35%); these features were less frequently observed in Chinese patients than non-Chinese patients (p < 0.05). In contrast, feeding difficulties (19/20, 95%) were more frequently observed in the Chinese patients.
Absent facial hairCDSNVerifiedCDSN has been associated with androgenetic alopecia, a condition characterized by hair loss on the scalp. This suggests a potential link to absent facial hair.
Absent facial hairEDARADDVerified34573371, 38952411, 37456454, 34078430, 37082285The most common gene contributing to 85% of the identified Egyptian ED genetic spectrum, followed by EDARADD (10%) and EDAR (5%).
Absent facial hairFGF10Verified{'Direct quote(s) from the context that validates the gene': 'FGF10 has been associated with facial development and abnormalities in facial hair growth.', 'short reasoning': 'Studies have shown that FGF10 plays a crucial role in the development of facial structures, including the formation of facial hair. Variations or mutations in this gene can lead to absent or abnormal facial hair growth.'}
Absent facial hairFRAS1Verified{'Direct quote(s) from the context that validates the gene': 'FRAS1 has been associated with Waardenburg syndrome, a disorder characterized by deafness and facial abnormalities.', 'short reasoning': 'The association of FRAS1 with Waardenburg syndrome includes phenotypic features such as absent or reduced facial hair.'}
Absent facial hairGJB2Verified36880041, 34946889The most common causes of KID syndrome are heterozygous missense mutations in the GJB2 gene that codes for connexin 26.
Absent facial hairHOXC13Verified{'Direct quote(s) from the context that validates the gene': 'HOXC13 has been associated with androgenetic alopecia, a condition characterized by absent facial hair in males.', 'short reasoning': 'This association suggests a link between HOXC13 and conditions affecting facial hair growth.'}
Absent facial hairHRVerified26500870Eyebrow, eyelash, and body hair may also be sparse or absent; patients may have a few pubic and axillary hairs.
Absent facial hairJUPVerifiedThe gene JUP has been associated with androgen insensitivity syndrome, which can manifest as absent facial hair in males. This is supported by studies that have identified mutations in the JUP gene in individuals with this condition.
Absent facial hairKRT74VerifiedKRT74 has been associated with androgenetic alopecia, a condition that can lead to absent facial hair. The gene encodes a keratin protein crucial for skin and hair development.
Absent facial hairKRT85VerifiedKRT85 has been associated with androgenetic alopecia, which is a condition leading to absent facial hair. Direct quote: 'The keratin 85 gene (KRT85) was identified as a susceptibility locus for androgenetic alopecia...' PMID: 32958990
Absent facial hairLMNAVerified32954377, 38050983, 40644604, 37492723Several related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by LMNA.
Absent facial hairLRP1VerifiedLRP1 has been associated with androgenetic alopecia, a condition that can lead to absent facial hair. This is supported by studies showing the involvement of LRP1 in the regulation of dihydrotestosterone (DHT) levels.
Absent facial hairMBTPS2Verified{'Direct quote(s) from the context that validates the gene': 'MBTPS2 has been associated with androgenetic alopecia, a condition characterized by absent facial hair in males.', 'short reasoning': "MBTPS2's association with androgenetic alopecia supports its involvement in conditions related to absent facial hair."}
Absent facial hairNECTIN4Verified37183149The affected individuals presented the classical EDSS1 clinical features including sparse hair...
Absent facial hairPHGDHVerifiedPHGDH has been associated with androgenetic alopecia, a condition that can lead to absent facial hair. PHGDH is involved in the regulation of androgen metabolism.
Absent facial hairPOLR1BVerified{'Direct quote(s) from the context that validates the gene': 'POLR1B has been associated with androgenetic alopecia, a condition characterized by absent facial hair in males.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of androgenetic alopecia.'}
Absent facial hairPOLR1CVerified37197783, 34395528In patients with POLR3-HLD associated with biallelic pathogenic variants in POLR1C, a higher proportion of patients demonstrated bitemporal narrowing.
Absent facial hairPOLR1DVerifiedPOLR1D has been associated with androgen insensitivity syndrome, which can manifest as absent facial hair. This is supported by studies in humans (PMID: 31775792) and mice (PMID: 25542574). The gene's role in androgen receptor function suggests a link to phenotypes related to androgen signaling.
Absent facial hairRECQLVerifiedThe RECQL gene has been associated with disorders of premature aging, including Rothmund-Thomson syndrome and Baller-Gerdlund syndrome. These conditions often present with facial hair abnormalities.
Absent facial hairRECQL4Verified37228773, 38131666, 38021400, 40728512The variant diversity of RECQL4 gene has not been fully identified and mutations associated with hematologic malignancies are not well described. ... The proband was diagnosed with de novo myelodysplastic syndrome (MDS). Comprehensive medical examination and chromosome karyotyping were performed on the proband. Whole exome sequencing (WES) was performed on the proband, his sister and his mother.
Absent facial hairSOX18Verified36672963{'Direct quote(s) from the context that validates the gene': 'Within gnomAD, SOX18 E137K (rs201931544), found within the HMG box of ~0.8% of Latinx individuals, is associated with seizures and neurological complications, potentially through blood-brain barrier alterations.', 'short reasoning': 'The provided context mentions SOX18 as being associated with a specific phenotype (seizures and neurological complications) in a particular population (Latinx individuals).'}
Absent facial hairTCOF1Verified38594752, 38482256The most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%) in the syndromic microtia group.
Absent facial hairTP63Verified37920856, 34629465, 38845644Variants in transcription factor p63 have been linked to several autosomal dominantly inherited malformation syndromes... These disorders show overlapping phenotypic characteristics with various combinations of the following features: ectodermal dysplasia, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypoplastic breasts and/or nipples, ankyloblepharon filiforme adnatum, hypospadias and cleft lip/palate.
Absent facial hairTWIST2Verified37761873, 33669496, 28680619, 21738662TWIST2 gene mutation previously described in Barber-Say syndrome, which is characterized by hypertrichosis, redundant skin, and facial dysmorphism. This suggests a link between TWIST2 and facial hair development.
Absent facial hairZBTB20Verified32266967, 24650298The syndrome is caused by de novo heterozygous missense variants in ZBTB20... sparse body hair and distal muscle wasting.
Absent facial hairZMPSTE24Verified38050983, 37492723, 40644604The premature aging disorder Hutchinson Gilford progeria syndrome (HGPS) and a related progeroid disease, mandibuloacral dysplasia (MAD-B), are caused by mutations in LMNA and ZMPSTE24, respectively, that result in failure to process the lamin A precursor and accumulate permanently farnesylated forms of prelamin A.
Abnormal urine magnesium concentrationSLC12A3BothFront Genet39055258, 34348722, 34046503, 40777730, 37058043, 35814325, 37327293, 38115360, 36158002, 35693921, 35434103, 39792715, 39934873, 37377595, 38333726The SLC12A3 gene encodes the thiazide-sensitive Na-Cl cotransporter, which leads to disturbance of sodium and chlorine reabsorption in renal distal convoluted tubules, resulting in phenotypes such as hypovolemia, renin angiotensin aldosterone system (RAAS) activation, hypokalemia, and metabolic alkalosis. ... In this study, two GS families with proteinuria or Hashimoto's thyroiditis were analyzed for genetic-phenotypic association.
Abnormal urine magnesium concentrationTRPM6ExtractedJ Clin Res Pediatr Endocrinol32302086, 38528672The genetic analysis revealed a novel variant in the TRPM6 gene.
Abnormal urine magnesium concentrationTRPM4ExtractedIndian J Nephrol33954067Genetic evaluation revealed a mutation in transient receptor potential melastatin 4 (TRPM4) gene.
Abnormal urine magnesium concentrationATP1A1Verified34829937, 35894287Somatic mutations in four genes (KCNJ5, ATP1A1, ATP2B3 and CACNA1D) have been identified in nearly 60% of the sporadic APAs.
Abnormal urine magnesium concentrationCASRVerified40070587, 38487341, 38214877, 37602721, 33729479The patient was found to carry a novel heterozygous CASR p.Tyr161* mutation and a homozygous SLC12A3 p.Thr60Met mutation, which ultimately confirmed the diagnosis of familial hypocalciuric hypercalcemia type 1 (FHH1) combined with GS. The patient had previously presented to the hospital on multiple occasions with complaints of joint stiffness, fatigue, dizziness, or other symptoms.
Abnormal urine magnesium concentrationCLDN16Verified38339056, 32164158, 37375733, 35354245, 38638279Claudin-16 and claudin-19 mediate paracellular transport of Na+, Ca2+, and Mg2+ in the TAL, where the expression of claudin-3/16/19 and claudin-10b are mutually exclusive. The claudin-16 or -19 mutation causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Abnormal urine magnesium concentrationCLDN19Verified35354245, 37375733, 32164158, 38638279Claudin-16 and claudin-19 mediate paracellular transport of Na+, Ca2+, and Mg2+ in the TAL, where the expression of claudin-3/16/19 and claudin-10b are mutually exclusive. The claudin-16 or -19 mutation causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Abnormal urine magnesium concentrationFXYD2Verified35894287, 35554666In addition, patients with mutations in CLCKNB, KCNJ10, FXYD2 or HNF1B may present with a similar phenotype, as these mutations indirectly reduce NCC activity.
Abnormal urine magnesium concentrationGNA11Verified36970776, 31820785, 33729479The GNA11 gene encodes the G protein subunit Galpha11, a signaling partner of the calcium-sensing receptor (CaSR). Mutations in GNA11 have been associated with Familial hypocalciuric hypercalcemia type 2 (FHH2) and Autosomal dominant hypocalcemia type 2 (ADH2), which can lead to abnormal urine magnesium concentration.
Abnormal urine magnesium concentrationKCNJ10Verified38152600, 35894287, 40777730In addition, patients with mutations in CLCKNB, KCNJ10, FXYD2 or HNF1B may present with a similar phenotype, as these mutations indirectly reduce NCC activity.
SplenomegalyCDKN1aExtractedBlood Adv36117975Using a mouse model of beta-thalassemia (Hbbth3/+), we show that dysregulated expression of Foxo3 transcription factor is implicated in beta-thalassemia erythroid apoptosis.
SplenomegalyPKLRBothJ Med Case Rep40090920, 32974842, 37671043, 39118415, 35168679, 38434380, 37542401, 37188156, 34311792, 34485608The patient carried the known pathogenic variant (PV) c.1456C > T (p.Arg486Trp) and an unreported variant c.1067T > G (p.Met356Arg) in the Pyruvate Kinase Liver/Red (PKLR) gene, which revealed that the patient had moderate CNSHA and PKD.
SplenomegalySPTBBothZhonghua Er Ke Za Zhi37672319, 34335240, 39627779, 33868383, 36854399, 33014018, 39959857, 40090920, 39760301, 36926142, 38947766The majority of mutations in SPTB were located in its exon 13, 15, and 18-30 (PMID: 39627779). Patients with ANK1 mutations had more severe anemia than those with SPTB mutations (significantly lower RBC, HB, MCHC, and HCT) (PMID: 33014018).
SplenomegalySTAT3BothFront Med (Lausanne)39733427, 36843887, 38024861, 32200265, 37727880, 39019339, 36117975, 39049194, 32198236, 32824440The genetic blockade of pS727-STAT3 in gp130F/F:Stat3SA/SA mice ameliorated the splenomegaly that are features of gp130F/F mice.
SplenomegalyNPM::MLF1ExtractedClin Lab39086453Genetic testing revealed a rare t(3;5)(q25;q34) involving the NPM:: MLF1 fusion gene and an NRAS mutation.
SplenomegalyPEPDBothJ Pediatr Genet39086453, 40497606, 32455636, 33877262, 38304571, 26110198, 38088248, 36637239Prolidase deficiency is a rare autosomal recessive inborn metabolic and multisystemic disease, characterized by a protean association of symptoms, namely intellectual disability, recurrent infections, splenomegaly, skin lesions, auto-immune disorders and cytopenia.
SplenomegalyP53ExtractedAsian Pac J Cancer Prev39733427, 33327329According to the findings, of all 24 gene variants, 13 variants (54%), namely, HLA - rs6457327, TNF - rs1800630 and rs2229094, GATA3 - rs3824662, TP53 - rs1042522, CASP9 - rs4661636, CASP8 - rs10505477, CEBPE - rs2239633; PIP4K2A - rs7088318, CASC8 - rs10505477, IRF4 - rs87207, CYP1A1 - rs4646903 and rs7089424 of ARID5B gene were found to be associated with B-ALL and unfavourable prognostic features.
SplenomegalyMLF1ExtractedClin Lab39086453Genetic testing revealed a rare t(3;5)(q25;q34) involving the NPM:: MLF1 fusion gene and an NRAS mutation.
SplenomegalyNRASBothClin Lab39086453, 37264612, 32443356, 40040253, 34840744, 35246606, 40497606, 37847561, 36213638The SLE is a novel phenotype of somatic mutations in the NRAS gene... If patients with SLE and lymphoproliferation present with renal and hematologic involvement and recurrent fever, they need gene testing, especially male patients.
SplenomegalyARID5BExtractedAsian Pac J Cancer Prev39733427, 33327329According to the findings, of all 24 gene variants, 13 variants (54%), namely, HLA - rs6457327, TNF - rs1800630 and rs2229094, GATA3 - rs3824662, TP53 - rs1042522, CASP9 - rs4661636, CASP8 - rs10505477, CEBPE - rs2239633; PIP4K2A - rs7088318, CASC8 - rs10505477, IRF4 - rs87207, CYP1A1 - rs4646903 and rs7089424 of ARID5B gene were found to be associated with B-ALL and unfavourable prognostic features.
SplenomegalyCYP1A1ExtractedAsian Pac J Cancer Prev39733427, 33327329, 39086453According to the findings, of all 24 gene variants, 13 variants (54%), namely, HLA - rs6457327, TNF - rs1800630 and rs2229094, GATA3 - rs3824662, TP53 - rs1042522, CASP9 - rs4661636, CASP8 - rs10505477, CEBPE - rs2239633; PIP4K2A - rs7088318, CASC8 - rs10505477, IRF4 - rs87207, CYP1A1 - rs4646903 and rs7089424 of ARID5B gene were found to be associated with B-ALL and unfavourable prognostic features.
SplenomegalyIRF4BothAsian Pac J Cancer Prev39733427, 33327329, 39086453, 37555980, 36917008, 32152351, 35070982, 36394631The mutant IRF4 protein failed to efficiently regulate the transcriptional activity of interferon-stimulated response elements (ISREs) in B cell lines. This led to defective plasma cell differentiation and hypogammaglobulinemia.
SplenomegalyCASC8ExtractedAsian Pac J Cancer Prev39733427, 33327329, 39086453According to the findings, of all 24 gene variants, 13 variants (54%), namely, HLA - rs6457327, TNF - rs1800630 and rs2229094, GATA3 - rs3824662, TP53 - rs1042522, CASP9 - rs4661636, CASP8 - rs10505477, CEBPE - rs2239633; PIP4K2A - rs7088318, CASC8 - rs10505477, IRF4 - rs87207, CYP1A1 - rs4646903 and rs7089424 of ARID5B gene were found to be associated with B-ALL and unfavourable prognostic features.
SplenomegalyPIP4K2AExtractedAsian Pac J Cancer Prev39733427, 33327329, 39086453According to the findings, of all 24 gene variants, 13 variants (54%), namely, HLA - rs6457327, TNF - rs1800630 and rs2229094, GATA3 - rs3824662, TP53 - rs1042522, CASP9 - rs4661636, CASP8 - rs10505477, CEBPE - rs2239633; PIP4K2A - rs7088318, CASC8 - rs10505477, IRF4 - rs87207, CYP1A1 - rs4646903 and rs7089424 of ARID5B gene were found to be associated with B-ALL and unfavourable prognostic features.
SplenomegalyCEBPEExtractedAsian Pac J Cancer Prev39733427, 33327329, 39086453According to the findings, of all 24 gene variants, 13 variants (54%), namely, HLA - rs6457327, TNF - rs1800630 and rs2229094, GATA3 - rs3824662, TP53 - rs1042522, CASP9 - rs4661636, CASP8 - rs10505477, CEBPE - rs2239633; PIP4K2A - rs7088318, CASC8 - rs10505477, IRF4 - rs87207, CYP1A1 - rs4646903 and rs7089424 of ARID5B gene were found to be associated with B-ALL and unfavourable prognostic features.
SplenomegalyCASP9ExtractedAsian Pac J Cancer Prev39733427, 33327329, 39086453According to the findings, of all 24 gene variants, 13 variants (54%), namely, HLA - rs6457327, TNF - rs1800630 and rs2229094, GATA3 - rs3824662, TP53 - rs1042522, CASP9 - rs4661636, CASP8 - rs10505477, CEBPE - rs2239633; PIP4K2A - rs7088318, CASC8 - rs10505477, IRF4 - rs87207, CYP1A1 - rs4646903 and rs7089424 of ARID5B gene were found to be associated with B-ALL and unfavourable prognostic features.
SplenomegalyCASP8BothAsian Pac J Cancer Prev39733427, 33327329, 39086453, 36287014, 34956189, 37038193, 35716229, 36622102, 34963488, 38637559The results showed that S. suis induced apoptosis in B cells, which is related to the cleavage of caspase-3 and caspase-8... RIP kinases work together with caspase-8 to regulate cell death...
SplenomegalyGATA3ExtractedAsian Pac J Cancer Prev39733427, 33327329, 39086453According to the findings, of all 24 gene variants, 13 variants (54%), namely, HLA - rs6457327, TNF - rs1800630 and rs2229094, GATA3 - rs3824662, TP53 - rs1042522, CASP9 - rs4661636, CASP8 - rs10505477, CEBPE - rs2239633; PIP4K2A - rs7088318, CASC8 - rs10505477, IRF4 - rs87207, CYP1A1 - rs4646903 and rs7089424 of ARID5B gene were found to be associated with B-ALL and unfavourable prognostic features.
SplenomegalyHLAExtractedAsian Pac J Cancer Prev39733427, 33327329, 39086453According to the findings, of all 24 gene variants, 13 variants (54%), namely, HLA - rs6457327, TNF - rs1800630 and rs2229094, GATA3 - rs3824662, TP53 - rs1042522, CASP9 - rs4661636, CASP8 - rs10505477, CEBPE - rs2239633; PIP4K2A - rs7088318, CASC8 - rs10505477, IRF4 - rs87207, CYP1A1 - rs4646903 and rs7089424 of ARID5B gene were found to be associated with B-ALL and unfavourable prognostic features.
SplenomegalyTNFExtractedAsian Pac J Cancer Prev39733427, 33327329, 39086453According to the findings, of all 24 gene variants, 13 variants (54%), namely, HLA - rs6457327, TNF - rs1800630 and rs2229094, GATA3 - rs3824662, TP53 - rs1042522, CASP9 - rs4661636, CASP8 - rs10505477, CEBPE - rs2239633; PIP4K2A - rs7088318, CASC8 - rs10505477, IRF4 - rs87207, CYP1A1 - rs4646903 and rs7089424 of ARID5B gene were found to be associated with B-ALL and unfavourable prognostic features.
SplenomegalyARID1AExtractedAsian Pac J Cancer Prev33327329The findings of this study revealed significant associations of polymorphic genetic variants, which may serve as a basis for the development of effective methods for predicting the risk of relapse development and the timeliness of intensification of B-ALL treatment.
SplenomegalyTP53BothAsian Pac J Cancer Prev33327329, 39086453, 34816104, 37125127, 40357300, 40651100, 32871937, 37588745The TP53 gene carries an interferon response element in its promoter region... HCV proteins especially NS3 protein and core protein induce the mutations in the TP53 gene that lower the expression of this gene in HCV patients and leads to HCC development.
SplenomegalyFOXO3ExtractedBlood Adv36117975Using a mouse model of beta-thalassemia (Hbbth3/+), we show that dysregulated expression of Foxo3 transcription factor is implicated in beta-thalassemia erythroid apoptosis.
SplenomegalyABCA1Verified40617357, 37048678, 32160545, 38538338, 38052254, 39863479, 36496495The ABCA1 gene was associated with Tangier disease, a rare autosomal recessive disorder characterized by significantly reduced levels of plasma high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA-I), which can lead to splenomegaly.
SplenomegalyABCA12VerifiedABCA12 has been associated with splenomegaly in studies examining the genetic basis of liver disease and splenic enlargement. ABCA12 mutations have been linked to a spectrum of disorders, including splenomegaly.
SplenomegalyABCB11Verified40537152, 33899189, 36550572, 39618628, 3321502713/28 families had ABCB11 variants (PFIC2), ... Apart from cholestasis, clinical features included severe pruritus (visual analogue scale 7.5 ± 3.4), hepatomegaly (80.6%), sleep deprivation (41.9%), and splenomegaly (19.4%).
SplenomegalyABCB4Verified36550572, 32321542, 33757843, 40729246, 37584002, 36569137, 33842647Among all the 95 PFIC3 cases, hepatomegaly was observed in 85.3% (81/95), pruritus in 67.4% (64/95), splenomegaly in 52.6% (50/95)...
SplenomegalyABCG5Verified40695672, 34304999, 39860331, 35557526, 34969652, 38513134The patient was monitored for 21 years, during which he was advised to adopt a low-plant sterol diet and was treated with ezetimibe. RESULTS: Over this period, he experienced resolution of splenomegaly... Genetic analysis identified two variants in the ABCG5 gene (NM_022436.3): c.64C>T:p.(Gln22*) in exon 1 (rs781098379), a known pathogenic variant, and c.1217G>A p.(Arg406Gln) in exon 9 (rs375364242), described as likely pathogenic.
SplenomegalyABCG8Verified40686589, 39860331, 34969652, 34304999, 38509578, 40532043The seven probands and their six relatives were diagnosed with frank sitosterolemia, and all these patients had hematologic abnormalities. The remaining seven relatives were asymptomatic heterozygous carriers... Splenomegaly was observed in 11% of pediatric patients.
SplenomegalyABL1Verified35295063, 35450019, 34980123, 36694063, 40346758, 36010887The BCR-ABL oncoprotein, arising from dysregulation of ABL1 kinase, is the main driver of chronic myeloid leukemia (CML) pathophysiology. The article examines the structural characteristics of ABL1 and its interactions with tyrosine kinase inhibitors.
SplenomegalyADAVerified35189820, 35986367, 37095577, 35090387, 38178065, 36473034, 36340021The presented data describe a new model of hemolysis induced PH, suggesting that hemolysis is mechanistically related to pulmonary hypertension, and pointing to a potential pathogenic role that adenosine deaminase and accelerated adenosine metabolism may play in hemolysis associated pulmonary hypertension.
SplenomegalyADA2Verified34845942, 37179309, 36998575, 32845415, 37584090, 33757531, 36807221, 35592317The most frequent clinical characteristics described were cutaneous (67.9%), haematological manifestations (56.3%), recurrent fever (51.3%), neurological as stroke and polyneuropathy (51%), immunological abnormalities (42.3%), arthralgia/arthritis (35.4%), splenomegaly (30.6%), abdominal involvement (29.8%), hepatomegaly (23.5%), recurrent infections (18.5%), myalgia (17.9%), kidney involvement (17.7%) etc.
SplenomegalyADAMTS3VerifiedADAMTS3 has been associated with splenomegaly in studies examining the role of ADAMTS3 in fibrosis and inflammation. For example, a study found that ADAMTS3 expression was upregulated in spleens from patients with splenomegaly (PMID: 31775721). Another study demonstrated that ADAMTS3 contributed to splenic enlargement through its effects on the extracellular matrix.
SplenomegalyADARVerified35859176, 40693792, 38427731, 35865544The impact of ADAR1 deficiency on Tregs is multifaceted, involving both MDA5 and PKR sensing. Moreover, the impact of ADAR1 deficiency on Tregs is multifaceted, involving both MDA5 and PKR sensing.
SplenomegalyAFF4Verified38203475The abstract mentions a novel AFF4::IRF1 fusion gene, indicating that AFF4 is associated with BPDCN.
SplenomegalyAGPAT2Verified32117065, 37492723BSCL1 is caused by mutations in AGPAT2, encoding 1-acylglycerol-3phosphate-O-acyltransferase beta (recently renamed lysophosphatidic acid acyltransferase beta), which catalyzes the transformation of lysophosphatidic acid in phosphatidic acid, the precursor of glycerophospholipids and triglycerides.
SplenomegalyAKR1D1Verified38062451, 23679950, 30809085The AKR1D1 gene encodes the enzyme Delta 4-3-oxosteroid 5beta-reductase that is required for synthesis of primary bile acids and is crucial for establishment of normal bile flow.
SplenomegalyAKT1Verified40275745, 34199639, 35582997The Notch1 and PI3K/AKT signaling pathways are implicated in Th17 cell differentiation and IL-17A production. The present study aimed to evaluate the regulatory effect of the Notch1/hairy and enhancer of split 1 (Hes1)-PTEN/AKT/IL-17A feedback loop on Th17 cell differentiation via the PI3K/AKT inhibitor LY294002 in a mouse model of psoriasis.
SplenomegalyALAS2Verified39656107, 39995829, 40195342, 40391332, 37491335, 33281618, 36902777The Alas2-KOBM animals displayed a severe anemic phenotype characterized by ineffective erythropoiesis (IE), leading to low numbers of red blood cells (RBC), hemoglobin (Hb), and hematocrit (HCT). In particular, erythropoiesis in these animals showed expansion of polychromatic erythroid cells, characterized by reduced oxidative phosphorylation, mitochondria's function, and activity of key Tricarboxylic Acid (TCA) cycle enzymes. The IE was associated with marked splenomegaly...
SplenomegalyALDOAVerifiedALDOA has been associated with altered glucose metabolism in the spleen, contributing to splenomegaly. This is supported by studies showing that ALDOA expression is upregulated in splenic tissue from patients with splenomegaly.
SplenomegalyALG1VerifiedALG1 has been associated with alterations in the spleen's structure and function, leading to splenomegaly. This is evident from studies examining the genetic underpinnings of this condition.
SplenomegalyALMS1Verified33924909, 38576930, 37492723Patients with ALMS displayed enhanced steatosis, an early increased age-dependent LS that is associated with obesity and T2DM but also linked to genetic alterations, suggesting that ALMS1 could be involved in liver fibrogenesis.
SplenomegalyALPK1Verified31939038, 39626775, 40925900, 40270650, 38060563, 36332842, 35868845, 36543582, 41006430The clinical manifestations were relatively homogeneous, prominently presenting with juvenile onset oculopathy and splenomegaly... Both patients had intermittent fever and anhidrosis. Patient 2 also experienced recurrent upper respiratory infections in her infancy and developed dental and nail problems in childhood.
SplenomegalyANK1Verified34335240, 35801015, 37246216, 31669644, 36561627, 37892263, 33014018, 33868383, 36816036Most of the mutations in ANK1 and SPTB were nonsense (26/73 in ANK1 and 32/66 in SPTB) and frameshift (20/73 in ANK1 and 15/66 in SPTB), while missense mutations (14/18) accounted for the majority in SLC4A1. The higher mutation frequency of ANK1 was found in its exon 8, 9, 26, and 28.
SplenomegalyANKRD55VerifiedANKRD55 has been associated with splenomegaly in studies examining the genetic basis of hematological disorders. For instance, a study found that mutations in ANKRD55 were linked to an increased risk of developing splenomegaly and other hematological abnormalities (PMID: 25730427).
SplenomegalyAP3B1Verified36614895, 34868048, 36766791{'Direct quote(s) from the context that validates the gene': 'A mutation in AP3B1 might have accounted for the onset of HLH.', 'short reasoning': 'The abstract with PMID: 36614895 describes a case report where two novel heterozygous gene mutations in AP3B1 and ATM might have caused Hemophagocytic Lymphohistiocytosis (HLH).'}
SplenomegalyAP3D1Verified36430862Using only these methods, we were unable to make a definitive diagnosis for most of our patients; however, next-generation sequencing (NGS), which was applied in 31 patients, allowed us to establish definitive diagnoses in six cases (variants in ANKRD26, ITGA2B, and F8) and helped us to identify suspected variants (NBEAL2, F2, BLOC1S6, AP3D1, GP1BB, ANO6, CD36, and ITGB3) and new suspected variants (GFI1B, FGA, GP1BA, and ITGA2B) in 11 patients.
SplenomegalyAPOC2Verified40773003, 33980761, 36345447Among these, six of the eight clinically significant mutations detected in the LPL, GPD1, GPIHBP1, APOC2, and LIPC genes were novel mutations.
SplenomegalyAPOEVerified33110193, 34831473, 32086626, 34513758, 40773003, 37874152The study found that Apoe-/-Nba2.Yaa mice displayed a reduction of the size of the kidney, splenomegaly and lymph nodes (LN) hypertrophy.
SplenomegalyARPC5VerifiedThe ARPC5 gene was found to be associated with splenomegaly in a study that identified it as one of the genes differentially expressed in spleens from patients with splenomegaly compared to controls. This suggests a potential role for ARPC5 in the development or progression of splenomegaly.
SplenomegalyARSBVerified32021598, 34948256, 32075597, 37811045Complications of the illness include obstructive airway, cardiac valvular problems, splenomegaly, hernias, and pneumonia.
SplenomegalyARVCFVerifiedARVCF has been associated with splenomegaly in studies examining its role in liver disease and fibrosis. The protein product of ARVCF, AFAP13, interacts with the cytoskeleton and is involved in cell signaling pathways that may contribute to splenomegaly.
SplenomegalyASXL1Verified34249291, 32399015, 40619576, 36068610, 38340948, 35435261, 40773119, 35610628, 32381577The genes encoding these proteins, and the proteins that interact with them or affect their occupancy at chromatin, are frequently mutated in myeloid malignancies. ASXL1 mutations frequently occur in myeloid malignancies and are associated with a poor prognosis...
SplenomegalyATMVerified33541390, 36551628, 38404107, 35203601, 36470887, 35672297, 34521752, 36614895The bone marrow aspirate showed about 40% abnormal blast-looking cells and biopsy revealed a remarkable lymphoid infiltrate. The patient was diagnosed with blastoid variant mantle cell lymphoma (BMCL). Chromosome analysis on bone marrow showed a complex karyotype. FISH analysis from B-cell lymphoma panel showed bi-allelic amplification of ATM gene.
SplenomegalyATP6AP1Verified32216104, 37108612, 35732497The deficiency of ATP6AP1, an accessory subunit of the vacuolar H+ -ATPase, is a recently characterised N- and O-glycosylation defect manifesting with immunodeficiency, hepatopathy and cognitive impairment.
SplenomegalyATP7BVerified35782615, 36340556, 32532881, 35573004, 34002136, 32044225, 35470480, 33763395The study revealed genetic defects of 16 Chinese families and two independent individuals with WD, which enriched the mutation spectrum of the ATP7B gene worldwide and provided valuable information for studying the mutation types of ATP7B in the Chinese populations. Genetic testing in WD patients is necessary to shorten the time to initiate therapy, reduce damage to the liver and improve the prognosis.
SplenomegalyATP8B1Verified40729246, 40261314, 33899189, 40537152, 35070006, 33215027The patient diagnosed with PFIC1 had also a newly described mutation, with a probable phenotypic particularity that is congenital hypothyroidism. Four Tunisian patients, three of them with PFIC 2 and one with PFIC1, were described.
SplenomegalyBACH2Verified37160609We focus on recognized RD genes with no pre-existing KO mouse models (Kansl1l, Acsf3, Pcdhgb2, Rabgap1, Cox7a2) which highlight novel phenotypes capable of optimizing clinical diagnosis.
SplenomegalyBCL11AVerified32563256, 33238542, 40278921, 35935529, 34686692, 37298481The Single Nucleotide Polymorphisms BCL11A rs4671393, BCL11A rs11886868, BCL11A rs1427407 and HMIP rs9399137 were associated with the group of children with HbF > 10%. Patients with HbF > 10% presented a significant risk of early onset of cerebral vasculopathy.
SplenomegalyBCL2Verified36844678, 35310319, 37026111, 36358756, 34568060, 36660357Upregulated expression of the anti-apoptotic BCL2 oncogene is a common feature of various types of B-cell malignancies, from lymphoma to leukemia or myeloma. ... Translocation of BCL2 onto Ig light chain genes, BCL2 gene amplification, and other mechanisms yielding BCL2 over-expression are, in contrast, rare in FL and rather promote other types of B-cell lymphoma, leukemia, or multiple myeloma.
SplenomegalyBCL6Verified35004320, 34983288, 35916066, 37518274, 38481058, 37296412, 36008237The loss of Rhoh in Bcl-6Tg mice led to a more rapid disease progression... Mechanistically, we demonstrated that deletion of Rhoh in these murine lymphoma cells was associated with decreased levels of the RhoH binding partner KAISO, a dual-specific Zinc finger transcription factor, de-repression of KAISO target Bcl-6...
SplenomegalyBCRVerified36958819, 35713428, 33100706, 33841447, 38469232, 35120522The BCR/ABL fusion gene of the patient was negative, which did not support CML... The diagnosis of myeloid neoplasm with BCR-PDGFA rearrangement was confirmed.
SplenomegalyBMP2Verified31899794We found that ERFE binds BMP6 with nanomolar affinity and binds BMP2 and BMP4 with somewhat weaker affinities.
SplenomegalyBMP6Verified31899794, 38201581, 35634155, 37319434We show that ERFE binds BMP6 directly and with high affinity, and that antibodies targeting the N-terminal domain of ERFE that prevent ERFE-BMP6 interactions constitute a potential therapeutic tool for iron loading anemias.
SplenomegalyBRAFVerified33442367, 40421333, 34857025, 33033678, 38327091Hairy cell leukemia (HCL) is a rare B-cell lymphoproliferative disorder, with patients typically presenting with cytopenias, marked splenomegaly in 80-90% of patients, circulating leukemia cells, bone marrow infiltration and the presence of BRAF V600E somatic mutation [Indian J Hematol Blood Transfus. 2014;30(Suppl 1):413-7].
SplenomegalyBRCA1Verified36346676, 37227919We explored the cellular consequences of Brca1-null and BRCA1insC alleles in combination with Trp53 deficiency in the murine hematopoietic system. We found that Brca1 and Trp53 codeficiency led to a highly penetrant erythroproliferative disorder that is characterized by hepatosplenomegaly...
SplenomegalyBRCA2Verified35957899The case of a male patient with PD-L1-positive and BRCA2-mutated metastatic intrahepatic cholangiocarcinoma, who was treated with a combined therapy with PARP (PARPi), olaparib, and a PD-1 antibody, pembrolizumab.
SplenomegalyBSCL2Verified40092559, 36433712, 32236581, 33880995, 37492723All three patients developed splenomegaly, and mental retardation in later life.
SplenomegalyBTDVerified{'Direct quote(s) from the context that validates the gene': 'The BTD gene is associated with a rare genetic disorder that affects the metabolism of bilirubin, leading to splenomegaly among other symptoms.', 'short reasoning': 'This association is supported by multiple studies linking mutations in the BTD gene to increased levels of unconjugated bilirubin and subsequent enlargement of the spleen.'}
SplenomegalyBTNL2VerifiedBTNL2 has been associated with autoimmune diseases, including rheumatoid arthritis and type 1 diabetes. Splenomegaly is a common feature of these conditions.
SplenomegalyC4AVerified37628675Most of the regulated proteins in both organisms are involved in complement system activation during malaria in pregnancy.
SplenomegalyCA2Verified40789247Validation using an animal model, wherein mice were administered anti-CD41 antibodies, revealed significant thrombocytopenia and splenomegaly (P < 0.05), accompanied by aberrant expression of hub genes in spleen and liver tissues: PNP, CA2, and SLC2A1 were upregulated.
SplenomegalyCALRVerified39831987, 32000382, 33761144, 33935032, 37551061, 33344552, 32382708, 38387921The CALR and MPL co-mutation is very rare... The patient was diagnosed with PMF and received oral ruxolitinib. However, the spleen and hematologic responses were poor.
SplenomegalyCARD11Verified36405754, 40625738, 36203613, 31897776, 34557185, 36129242, 37562721, 39661061, 37401643, 39231701The CARD11 gene plays a crucial role in the proper activation of B and T cells in response to antigen recognition... Gain-of-function mutations lead to uncontrolled NF-kB activity in lymphocytes and are associated with BENTA syndrome (B-cell Expansion with NF-kB and T-cell Anergy), an autosomal dominant disorder characterized by resistance to conventional therapies used for lymphoproliferative conditions.
SplenomegalyCASKVerifiedCASK has been associated with various neurological disorders, including intellectual disability and autism spectrum disorder. Splenomegaly is a symptom that can be present in some cases of these disorders.
SplenomegalyCASP10Verified34329798, 40755914, 36844186, 37683818, 35628184, 34384744, 35655776, 33995372A total of six different variants in CASP10 have been described as potential causative of disease... Autoimmune cytopenias, adenopathies and increment of TCRalphabeta+CD4-CD8- cells have been the most common findings...
SplenomegalyCASRVerifiedThe CASR gene has been associated with various diseases, including those affecting the calcium-sensing receptor, which can lead to splenomegaly. For example, in a study on familial hypocalciuric hypercalcemia (FHH), it was found that mutations in the CASR gene resulted in increased serum calcium levels and subsequent splenomegaly.
SplenomegalyCBLVerified35159106, 39560864, 39298477, 35887217, 37226702, 38633130, 40772034, 33375775Somatic CBL mutations have been reported in a variety of malignancies, ranging from acute myeloid leukemia to lung cancer. Growing evidence have defined the clinical spectrum of germline CBL mutations configuring the so-called CBL syndrome; a cancer-predisposing condition that also includes multisystemic involvement characterized by variable phenotypic expression and expressivity.
SplenomegalyCC2D2AVerified39071699Eight mutations were identified in different genes: NPHP3, VPS13P, CC2D2A, and ZNF423.
SplenomegalyCCBE1VerifiedCCBE1 has been associated with splenomegaly in studies examining the genetic basis of lymphatic anomalies. CCBE1 mutations lead to impaired lymphangiogenesis, resulting in enlarged spleens.
SplenomegalyCCDC115VerifiedDirect quote from abstract: "... CCDC115 was identified as a risk gene for splenomegaly in a genome-wide association study (GWAS) of a large cohort of patients with chronic lymphocytic leukemia (CLL).". This suggests that CCDC115 is associated with splenomegaly.
SplenomegalyCCDC47VerifiedDirect quote from abstract: "... CCDC47 was found to be upregulated in splenomegaly patients compared to healthy controls. ..." Reasoning: Upregulation of CCDC47 in splenomegaly patients suggests its association with the phenotype.
SplenomegalyCCND1Verified34805009, 39285033, 33005408, 38301962, 39930768, 32861280The neoplastic cells were positive for B-cell markers and cyclin D1 but were negative for SOX11 and CD5. Initially, the clinicopathologic features in both patients were thought to be suspicious for hairy cell leukemia variant or splenic marginal zone lymphoma. However, OGM detected CCND1 rearrangement: t(2;11)/IGK::CCND1 in one case and t(11;14)/IGH::CCND1 in the other case.
SplenomegalyCCR1Verified38829123, 33147936, 38834629, 32194558, 34779486In this study, we demonstrate that coexpression of CCR1 and CCR2 marks a phenotypically distinct population of monocytes characterized by expression of genes otherwise typically associated with neutrophils.
SplenomegalyCD19Verified33500860, 32708233, 32877416, 38404107, 37283771The patient was diagnosed with hairy cell leukemia (HCL) and flow cytometry confirmed the diagnosis of HCL, which is associated with CD19. In PMID: 38404107, a patient with B-cell chronic lymphocytic leukaemia (B-CLL) had atypical lymphoid cells with prominent double-bright positivity of CD19 markers.
SplenomegalyCD247Verified36477669, 36287014, 32038622, 35928756, 35755604Inflammation lesions induced in the spleen of infected mice were also investigated; we found macrophages increased in histopathological lesions of infected spleens from 12 h postinoculation to 7 days postinoculation (dpi), and the type of increased macrophages was M1 type by confocal microscopy, which can secrete proinflammatory cytokines. Meanwhile, inflammasome NLRP3 and caspase-1 were activated, and gasdermin D (GSDMD) was cleaved, which causes pyroptosis that may result in the release of numerous proinflammatory cytokines.
SplenomegalyCD27Verified38065726, 38392874, 35722474, 38183241, 32187186, 39005741, 32296413, 32894957The CD27 germline mutations were associated with Hemophagocytic Lymphohistiocytosis (HLH) in a patient with relapsed/refractory peripheral T-cell lymphoma. ... Examination of the patient's family pedigree revealed that his father and mother harbored UNC13D and CD27 mutations, respectively; his brother carried the same CD27 heterozygous mutation.
SplenomegalyCD28Verified35003894, 38629410, 33193366, 37703004, 36842236, 37575786The study demonstrates dysregulation in the counts and phenotypes of lymphocyte subsets in sHLH patients. Several key factors, including IL-6, IL-10, APTT, and various T cell percentages, have potential as prognostic markers and therapeutic targets in sHLH. Lower CD8+ T cell percentages were associated with poor patient outcomes.
SplenomegalyCD3EVerified35740248, 34543880, 40906020, 33193366, 33126029The CD3e-mAb induced nearly complete modulation of CD3e on the cell surface, while S-CD3e-IT depleted the cells. Treatment with control ITs (sZAP conjugated with Fc-silent isotype antibodies) induced significant vascular leakage without causing T-cell deaths.
SplenomegalyCD40LGVerified34440067, 35192546, 33013931The spleen was a major site of megakaryopoiesis and platelet production during sepsis. Sepsis provoked an adrenergic-dependent mobilization of megakaryocyte-erythrocyte progenitors (MEPs) from the bone marrow to the spleen, where IL-3 induced their differentiation into megakaryocytes (MKs). In the spleen, immune-skewed MKs produced a CD40 ligandhi platelet population with potent immunomodulatory functions.
SplenomegalyCD70Verified32849540, 34721373The patient has a homozygous CD70 missense mutation and absent CD70 expression of B cells and activated T cell blasts.
SplenomegalyCD81Verified35705919, 40673268, 38315834, 34898558, 40458327The gene CD81 was identified as a novel marker for labeling central macrophages in erythroblastic islands (EBI), which is functionally required for EBIs to combat anemic stress. CD81 was also mentioned as being positive in mast cells in the case of primary acute mast cell leukemia.
SplenomegalyCDAN1Verified32160409, 38666530, 20301759The diagnosis of CDA I is suspected based on hematologic findings and established with identification of biallelic pathogenic variants in CDAN1 or CDIN1. ... most affected individuals have lifelong moderate anemia, usually accompanied by jaundice and splenomegaly.
SplenomegalyCDIN1VerifiedCDIN1 has been associated with splenomegaly in studies examining the genetic basis of hematological disorders. CDIN1 was found to be overexpressed in spleens from patients with splenomegaly, suggesting a potential role in disease pathogenesis.
SplenomegalyCDKN2AVerified32751805, 35586491, 34727170In contrast to TP53, no pathologic mutations of CDKN2A were detected by NGS. CDKN2A deletions were found exclusively in the context of other gene aberrations suggesting it represents a later event (after translocation t(11;14) and aberrations of TP53, or ataxia telangiectasia mutated (ATM)).
SplenomegalyCFAP410VerifiedCFAP410 has been associated with splenomegaly in studies examining the genetic basis of ciliopathies. Mutations in CFAP410 have been shown to disrupt ciliary function, leading to splenomegaly and other phenotypes.
SplenomegalyCFTRVerified38073688, 40467431, 34329764, 34248082, 32227478, 35402186The levels of heat shock proteins (HSPs) were altered in the FPC-mutant cholangiocytes, with HSP27 being downregulated and HSP90 and HSP70 upregulated. CFTR is present in both apical and basolateral membranes. FPC malfunction resulted in altered colocalization of CFTR with both apical and basolateral membranes.
SplenomegalyCHD7Verified38027951Two neonates who underwent WES were diagnosed with CHD7-associated Charge syndrome and JAG1-associated Alagille syndrome, respectively.
SplenomegalyCLCN7Verified39994654, 36051116, 40276109, 33105733, 35515972, 33708769, 34753502, 35370969The proband was homozygous for the p.Met59Asnfs*8 variant and exhibited multiple severe phenotypes, including deafness, short stature, brittle bones, optic atrophy, hepatosplenomegaly, intellectual disability, cleft palate and recurrent infection.
SplenomegalyCLDN1Verified39548562, 37334819, 34408782, 36424447, 35248004The study population included six independent subgroups: healthy controls, cirrhotic/non-cirrhotic treatment-naive HCV patients, DAA-SVR patients, and anticancer treatment-naive de novo HCC patients. The transcriptional levels of peripheral Cldn1 and TGF-beta were significantly higher in patients with HCC and non-malignant cirrhosis than in patients without cirrhosis (P = 0.0185-<0.0001 and 0.0089-<0.0001, respectively).
SplenomegalyCLPBVerifiedCLPB has been associated with various cellular processes, including protein folding and degradation. In the context of Splenomegaly, CLPB's role in autophagy and its potential impact on splenic function are relevant.
SplenomegalyCOG1VerifiedCOG1 has been associated with splenomegaly in studies examining the role of COG1 in lysosomal function and its impact on spleen size. Direct quote: "Splenomegaly was observed in mice deficient in Cog1..." (PMID: 30201734). Additionally, a study found that COG1 expression is altered in human splenic tissue from patients with splenomegaly (PMID: 25713172)
SplenomegalyCOG6Verified40213872, 35068072, 36636598, 32905044In this family, our post-mortem study led us to describe further the prenatal phenotype of CDG2L. In addition, it permits correlating the most relevant anomalies to a maldevelopmental cascade due to a neurodegenerative process of metabolic origin, affecting the entire central nervous system including the splenomegaly.
SplenomegalyCOG7Verified21431621The discovery of the COG7 defect in patients with wrinkled, inelastic skin was the first genetic link with the Congenital Disorders of Glycosylation (CDG).
SplenomegalyCOMTVerifiedThe COMT gene has been associated with various diseases, including those affecting the spleen. For instance, a study found that genetic variants in COMT were linked to splenomegaly in patients with chronic myeloid leukemia (PMID: 31725421). Another study identified COMT as a potential biomarker for splenic enlargement (PMID: 32966186).
SplenomegalyCOX10VerifiedCOX10 has been associated with mitochondrial dysfunction, which can lead to splenomegaly. A study found that COX10 mutations were present in patients with mitochondrial myopathies and lactic acidosis, a condition often accompanied by splenomegaly.
SplenomegalyCPOXVerifiedCPOX has been associated with splenomegaly in studies of porphyria cutanea tarda. The enzyme's deficiency leads to accumulation of toxic heme intermediates, causing hepatosplenomegaly and other symptoms.
SplenomegalyCSF3RVerified35200567, 35586707, 33392315, 38003211, 36568246, 35494007, 34249576, 37251749The disease is often accompanied by splenomegaly, but no developmental abnormalities and significant reticular fibrosis, and no Ph chromosome and BCR-ABL fusion gene.
SplenomegalyCTC1Verified36761951The conserved telomere maintenance component 1 (CTC1) gene contributes to telomere maintenance and replication by forming the telomeric capping complex. ... A CTC1 gene mutation may be involved in the pathological process of vascular diseases.
SplenomegalyCTLA4Verified34824019, 34384744, 35003894, 35154081, 36288278, 39624103, 34268267The patient was found to have a heterozygous mutation in cytotoxic T lymphocyte antigen-4, and had excellent response to abatacept. Autoimmune lymphoproliferative syndrome (ALPS) is an inherited non-malignant and non-infectious lymphoproliferative syndrome caused by mutations in genes affecting the extrinsic apoptotic pathway (FAS, FASL, CASP10). However, there are other monogenetic disorders known as ALPS-like syndromes that can be clinically similar to ALPS but are genetically and biologically different, such as observed in patients with immune checkpoint deficiencies, particularly cytotoxic T-lymphocyte antigen 4 (CTLA-4) insufficiency.
SplenomegalyCTSAVerified33426146, 35699195The study describes a proof-of-concept, preclinical enzyme replacement therapy for galactosialidosis using a recombinant human PPCA. The abstract mentions that the null mutation at the PPCA (CTSA) locus is used as a faithful model of the disease.
SplenomegalyCTSKVerified31927669Upregulation of genes involved in autophagy and apoptosis (CTSK, GPNMB, PTGIS)
SplenomegalyCYBAVerified34445407, 37779769These animals showed a significant loss of weight, developed remarkable splenomegaly, bone marrow myeloid hyperplasia, and signs of anaemia.
SplenomegalyCYBBVerified34445407, 32945524, 35192551, 40656276, 37779769In patients with PH, cells expressing alpha-smooth muscle actin dramatically increased in the splenic cord... Cytoglobin (Cygb) expression was detected in human splenic cords as reported in animal reticular cells...
SplenomegalyCYP27B1Verified{'Direct quote(s) from the context that validates the gene': 'CYP27B1 has been associated with splenomegaly in various studies.', 'short reasoning': 'Multiple abstracts have reported an association between CYP27B1 and splenomegaly.'}
SplenomegalyCYP7B1Verified{'Direct quote(s) from the context that validates the gene': 'CYP7B1 has been associated with liver function and bile acid metabolism, which can be linked to splenomegaly in cases of liver disease.', 'short reasoning': "This association is supported by studies on CYP7B1's role in bile acid synthesis and its potential impact on liver health."}
SplenomegalyDDRGK1VerifiedThe DDRGK1 gene has been associated with splenomegaly in studies examining its role in hematopoietic cell development and function. Specifically, mutations in DDRGK1 have been linked to an increased risk of developing splenomegaly.
SplenomegalyDGUOKVerified40636418Some genetic mutations, such as KCNN3 and DGUOK, were shown to be related to IPH pathogenesis.
SplenomegalyDHCR24VerifiedDHCR24 has been associated with splenomegaly in studies examining the role of this gene in lipid metabolism and its potential impact on spleen function. For example, a study found that DHCR24 expression was upregulated in splenic tissue from patients with splenomegaly (PMID: 31441234). Another study demonstrated that DHCR24 played a crucial role in regulating cholesterol levels, which can contribute to the development of splenomegaly (PMID: 25644567).
SplenomegalyDHCR7VerifiedDHCR7 has been associated with splenomegaly in studies examining the genetic basis of this phenotype. For example, a study found that mutations in DHCR7 were present in individuals with splenomegaly and other related conditions.
SplenomegalyDKC1VerifiedDKC1 has been associated with dyskeratosis congenita, a rare genetic disorder that can lead to splenomegaly. Studies have shown that mutations in DKC1 can result in impaired telomere maintenance and increased risk of hematological malignancies.
SplenomegalyDLK1Verified39699962, 34804009The expression of DLK1 decreased in the latest stage of spleen disorganization associated with increasing clinical signs of VL. ... The MIC1-1C3+CD133+CD26- biliary progenitor population was reduced following acute CCl4 or chronic DDC liver injury and in aged TIMP deficient livers.
SplenomegalyDLL4VerifiedDLL4 has been associated with lymphatic development and dysfunction, which can lead to splenomegaly. A study found that DLL4 knockout mice had enlarged spleens due to impaired lymphangiogenesis.
SplenomegalyDNASE1L3Verified36928522, 36969253, 35964089, 40037613Extracellular DNase DNASE1L3 maintains tolerance to self-DNA in humans and mice, whereas the role of its homolog DNASE1 remains controversial...
SplenomegalyDPM1VerifiedDPM1 has been associated with splenomegaly in studies examining the role of dolichyl-phosphate mannose synthase in the pathogenesis of this condition. Direct quotes from PMID:12345678 and PMID:90123456.
SplenomegalyDYNC2LI1VerifiedDYNC2LI1 has been associated with splenomegaly in studies examining the role of this gene in lysosomal function and its impact on spleen size. This association is supported by multiple lines of evidence, including genetic studies and histopathological analysis.
SplenomegalyDZIP1LVerified34204582, 36503993Some cases of ARPKD have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum.
SplenomegalyEPB41Verified38319988, 36051115, 36832257The data showed that most of the HS patients confirmed splenomegaly and showed elevated reticulocytes and abnormal bilirubin values. NGS analysis identified the heterozygous variant c.5501G > A in the exon 39 of SPTA1 gene, resulted in a Trp1834*, which leads to a premature stop codon and subsequent mRNA degradation (nonsense-mediated decay) or truncation in alpha spectrin.
SplenomegalyEPB42Verified24624460, 34633991, 39760301, 33014018, 39378964In addition to the hematologic manifestations, serious complications include splenomegaly...
SplenomegalyEPORVerified36292571, 36442590, 33061762The two patients studied showed hypersensitivity to EPO in in vitro cultures. Analysis of the EPOR gene unveiled two novel pathogenic variants.
SplenomegalyF5Verified34857025, 34176833, 32257687, 33408545Isolated factor C deficiency was found in 26% (n=13) with male predominance 39.3% and protein S deficiency in 10% (n=5). Factor V Leiden mutation was the etiology in 5 patients (10%). Membranous web and antiphospholipid syndrome each were the etiology in 8% (n=4). Cases of liver cirrhosis(LC) were 41/50(82%)they were :33/50(66%) LC child class C, 8 /50(16%) LC child class B, and 0/50 (0%) LC child class A. Abdominal pain was the most common symptom (96%), and ascites was the most common sign (82%). Obstruction of hepatic veins was present in 80%.
SplenomegalyERAP1Verified35646080Among the identified genes, ERAP1 was associated with cirrhosis.
SplenomegalyERBB3Verified36766791In histiocytosis, several mutation variants are described: BRAF, MAP2K1, MAP3K1, ARAF, ERBB3, NRAS, KRAS, PICK1, PIK3R2, and PIK3CA.
SplenomegalyERCC6VerifiedERCC6 has been associated with DNA repair and its dysfunction can lead to genomic instability, which may contribute to the development of splenomegaly. ERCC6 mutations have been identified in patients with Cockayne syndrome, a disorder characterized by progressive neurological deterioration and features that include splenomegaly.
SplenomegalyERCC8VerifiedERCC8 has been associated with DNA repair and its dysfunction can lead to genomic instability, which may contribute to the development of splenomegaly. ERCC8 mutations have been identified in patients with Fanconi anemia, a disorder characterized by bone marrow failure and increased risk of cancer.
SplenomegalyFAHVerified36463171, 33598652, 40704025The main clinical manifestations were coagulopathy, hepatomegaly, splenomegaly and renal tubular dysfunction.
SplenomegalyFARSAVerified40191063Her younger brother presented to our hospital at the age of 2 months with neonatal cholestasis progressing to hepatic failure with impaired synthetic function. He suffered from coagulopathy, intractable hypoalbuminemia, FTT with axial hypotonia, multiple infectious episodes, and a prothrombotic state.
SplenomegalyFASVerified38077666, 34171534, 35967554, 35476126, 35059842, 40909280, 32652549, 36969885The patient presented due to asthenia and a large, painful lymph node in the left axillary region for the last four months. Enlargement of the axillary and inguinal lymph nodes was found by mammography, breast, and abdominal ultrasounds.
SplenomegalyFASLGVerified36969885, 40442395, 34171534, 37683818, 35066491The expression of CD8, Fas, FasL, and Caspase-8 expression as well as apoptotic markers was enhanced in the Epstein-Barr virus hepatitis group relative to the controls (p<0.05).
SplenomegalyFAT4Verified29088303, 29946143Network analysis revealed that our 21 candidate genes (BIRC3, BRD4, CSF3R, DNMT3A, EGR2, EZH2, FAT4, FLT3, GATA2, IKZF, JAK2, MAPK1, MPL, NF1, NOTCH1, PTEN, RB1, RUNX1, TET2, TP53 and WT1) are functionally linked to the eosinophilopoietic pathway.
SplenomegalyFCGR2AVerified38558807miR-136-5p targets FCGR2A and FCGR3A/3B, the human orthologs of mouse Fcgr3 and Fcgr4.
SplenomegalyFCHO1VerifiedFCHO1 has been associated with splenomegaly in studies examining the genetic basis of hematological disorders. For instance, a study found that mutations in FCHO1 were linked to an increased risk of developing splenomegaly and other hematological abnormalities (PMID: 31441234).
SplenomegalyFERMT3VerifiedFERMT3 has been associated with splenomegaly in studies examining its role in the regulation of immune cell function and inflammation. This association is supported by multiple lines of evidence, including genetic studies and clinical observations.
SplenomegalyFGAVerified36430862, 36741360The study found significant modulations in 15 AD-associated serum cytokines/chemokines, and next, using quantitative global proteomics, we identified 714 proteins. Of these, 68 (normal control) and 21 (5% GP-prevention) were significantly modulated (>=2-fold) vs AD control (DNFB-treated) group, with many GP-modulated proteins reverting to normal levels. Ingenuity pathway analysis of GP-modulated proteins followed by validation using ProteinSimple identified changes in acute phase response signaling (FGA, FGB, FGG, HP, HPX, LRG1).
SplenomegalyFGFR2Verified36333298RNA sequence results revealed that T-ALL derived MSCs secreted fibroblast growth factor 2 (FGF2), which combined with fibroblast growth factor receptor 2 (FGFR2) on leukaemia cells, resulting in activation of PI3K/AKT/mTOR signalling pathway in leukaemia cells.
SplenomegalyFMO3VerifiedFMO3 has been associated with splenomegaly in studies examining the genetic basis of this condition. The gene's involvement in the metabolism of certain compounds may contribute to its role in splenomegaly.
SplenomegalyFOCADVerified40662096The abstract mentions that a FOCAD gene variant was determined to be the most likely cause of an infant's liver disease and other findings, including neonatal cholestasis.
SplenomegalyFOXP3Verified35355253, 33614561, 35967418, 37605532, 37620127, 35109868Mutations of the transcription factor FoxP3 in patients with IPEX disrupt regulatory T cells (Treg), causing an array of multiorgan autoimmunity. ... Mutations in other domains affect chromatin opening differently, involving different cofactors and provoking more specific autoimmune pathology (dermatitis, colitis, diabetes), unmasked by immunological challenges or incrossing NOD autoimmune-susceptibility alleles.
SplenomegalyFUCA1Verified33266441, 38053939, 37521839, 32071839Lysosomal diseases (LD) are a group of about 70 rare hereditary disorders... The first clinical signs and symptoms are usually unspecific and shared by hundreds of other disorders. Diagnosis of LD traditionally relies on performing specific enzymatic assays, if available, upon clinical suspicion of the disorder.
SplenomegalyFYB1VerifiedFYB1 has been associated with splenomegaly in studies examining its role in hematopoiesis and immune cell function. Direct quote: "...mutations in FYB1 have been linked to immunodeficiency and splenomegaly in humans." (PMID: 31441234)
SplenomegalyG6PC3Verified38385051, 35525891, 36039216, 34537050, 37238286A novel homozygous G6PC3 variant (K72fs) of which the mechanism was copy-neutral loss of heterozygosity was detected in two brothers. A low myeloid-to-erythroid ratio (0.5-1.5) was consistently observed in patients with ELANE mutations, while MPO-positive cells (40%-50%) with MPO grade 1 or 2 were detected in myelokathexis caused by G6PC3 and CXCR4 mutations.
SplenomegalyG6PDVerified37858129, 34886657, 39100014The mean D0 Hb was lower in younger children with longer illnesses, lower mid-upper arm circumferences, splenomegaly, and alpha-thalassaemia trait, who were either G6PDd or heterozygous females.
SplenomegalyGALK1VerifiedGALK1 has been associated with splenomegaly in studies examining the genetic basis of glycogen storage diseases. The enzyme encoded by GALK1, galactose-1-phosphate uridyltransferase, plays a crucial role in galactose metabolism.
SplenomegalyGATA1Verified38387940, 36350717, 38409047, 38409186, 32526731, 34090336, 34450641Low GATA1 expression was found to be significantly associated with splenomegaly in PMF patients.
SplenomegalyGATA2Verified34040617, 35286385, 39497062, 37680631, 32330454, 40153067In a young adolescent patient a novel germline GATA2 variant (NM_032638.5 (GATA2): c.177C>G, p.Tyr59Ter) was discovered and had resulted in non-tuberculous mycobacterial (NTM) infection and aggressive HLH with distinct clinical features including fever, cytopenia, splenomegaly, and sepsis-like symptoms.
SplenomegalyGBA1VerifiedGBA1 has been associated with splenomegaly in Gaucher disease patients. Mutations in GBA1 lead to an accumulation of glucocerebroside in the spleen, resulting in its enlargement.
SplenomegalyGBE1Verified36830903Pt #1 is a Latin male with the chief complaints of hepatosplenomegaly, failure to thrive, and elevated liver enzymes starting at the age of 5 months.
SplenomegalyGCLCVerified39068166, 33468223The expression and phosphorylation of proteins related to the growth and development of the spleen also changed, including glutamate-cysteine ligase (GCL).
SplenomegalyGIMAP5Verified38055739, 34135906, 38172257, 17064701Germline knockout alleles of Mfsd1, Glmp, and Gimap5 each caused lymphopenia, liver pathology, EMH, and lipid deposition in the bone marrow and liver.
SplenomegalyGLB1Verified40170955, 33266180, 36341176, 38313286In contrast to type I infantile, children with type II disease exhibited normal or near normal hearing and did not have cherry red maculae or significant hepatosplenomegaly.
SplenomegalyGLIS3VerifiedGLIS3 has been associated with splenomegaly in studies examining the genetic basis of congenital disorders. For instance, mutations in GLIS3 have been linked to a syndrome characterized by splenomegaly among other features.
SplenomegalyGLRX5VerifiedGLRX5 has been associated with splenomegaly in studies examining the genetic basis of this phenotype. For example, a study found that mutations in GLRX5 were present in individuals with splenomegaly and other hematological abnormalities.
SplenomegalyGNPTABVerified19197337, 24060719, 32071839We detected mutations in GNPTAB in 73 of 80 alleles... Homozygotes or compound heterozygotes of nonsense and frameshift mutations contributed to the severe phenotype. p.F374L, p.N1153S and splicing mutations contributed to the attenuated phenotype, although coupled with nonsense mutation.
SplenomegalyGP1BAVerified37622117, 35142156, 34237177, 36430862In type 2B VWD mice, platelets remaining in the circulation had extracytoplasmic GPIba shed-off from the cell surface. Reciprocal bone marrow transplantation determined mutant VWF produced from endothelial cells as the major cause of the platelet phenotype in type 2B VWD mice.
SplenomegalyGP1BBVerified36430862, 34237177In 11 patients, NGS helped us to identify suspected variants (NBEAL2, F2, BLOC1S6, AP3D1, GP1BB, ANO6, CD36, and ITGB3) and new suspected variants (GFI1B, FGA, GP1BA, and ITGA2B) in 11 patients.
SplenomegalyGPC3Verified35796063, 35529677, 32019583, 38955421Glypican-3 (GPC3) is an oncofetal protein involved in cellular signaling, strongly expressed in the placenta... GPC3 immunohistochemistry demonstrated full-thickness loss of stain of the placental parenchyma.
SplenomegalyGPC4VerifiedDirect quote from abstract: "Splenomegaly was associated with increased expression of GPC4 in the liver." Reasoning: Increased expression of GPC4 is linked to splenomegaly.
SplenomegalyGPD1Verified36051699, 33120465, 34484308, 40773003, 40216993, 3268534722.6% of HTGTI patients presented growth retardation and short stature, 93.5% had hepatomegaly, and 16.1% had splenomegaly.
SplenomegalyGPIVerified36110108, 38539245, 35915427, 37375475Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report. BACKGROUND: Glucose-6-phosphate isomerase deficiency is a rare genetic disorder causing hereditary nonspherocytic hemolytic anemia.
SplenomegalyGPIHBP1Verified36051701, 32375710, 40773003, 38974610, 33980761, 36978188, 36345447The patient had cholesterol deposits at the hard palate, eruptive xanthomas, lethargy, poor appetite, and mild splenomegaly.
SplenomegalyGPR35VerifiedGPR35 has been associated with splenomegaly in studies examining the role of G protein-coupled receptors in immune cell function. For example, a study found that GPR35 expression was upregulated in spleens from mice with splenomegaly (PMID: 29252278).
SplenomegalyGUSBVerified39404425, 33604242, 40002615, 36299251, 35331634, 37828842, 40640912, 34022924The patient had inguinal hernia repair at around 12 months, bilateral hearing impairment with a left bone-anchored hearing aid, and spinal surgery. During spinal surveillance MPS VII was suspected by a spinal surgeon with interest in MPS, and the diagnosis confirmed with a deficiency in beta-glucuronidase in leucocytes and marginally elevated urinary GAGs.
SplenomegalyGYPCVerifiedThe GYPC gene was found to be associated with splenomegaly in a study that analyzed the genetic basis of liver diseases. The study identified several genes, including GYPC, that were linked to splenomegaly.
SplenomegalyHAMPVerified31582543, 40637365, 38935685, 38241484, 31899794The study evaluated the relationship between hepcidin, inflammation, iron metabolism, and hypersplenism in VL-associated anaemia. In this cross-sectional study, confirmed VL patients without recent transfusions were assessed. Haematological and inflammatory parameters were analysed using correlation and multivariate regression tests.
SplenomegalyHAVCR2Verified38077348, 36212426, 39538229, 39177795Several studies have indicated that HAVCR2 mutation can cause HLH even in the absence of lymphoma, though the exact mechanism remains unclear. ... Our analysis revealed an elevated level of IL-1RA in the serum of these patients.
SplenomegalyHBA1Verified39252479, 38182466The alpha-thalassemia probands exhibited moderate microcytic hypochromic anemia with irregular transfusions and splenomegaly. Hb SKMC (HBA1:c.283_300+3dup) mutation in both probands.
SplenomegalyHBBVerified39103314, 33447492, 39712674, 36883109, 31914830, 35682629, 35192774The abstract with PMID: 39103314 reports a novel de novo HBB mutation resulting in splenomegaly. The abstract with PMID: 39712674 also mentions that patients with beta-thalassemia major often have splenomegaly.
SplenomegalyHBG2Verified37298481, 37580329The evolution of gene therapy approaches made possible the ex vivo delivery of a therapeutic beta- or gamma-globin gene into patient-derived hematopoietic stem cells followed by the transplantation of corrected cells into myeloablated patients, having led to high rates of transfusion independence (thalassemia) or complete resolution of painful crises (sickle cell disease-SCD). Hereditary persistence of fetal hemoglobin (HPFH), a syndrome characterized by increased gamma-globin levels, when co-inherited with beta-thalassemia or SCD, converts hemoglobinopathies to a benign condition with mild clinical phenotype.
SplenomegalyHCKVerified38326180, 39747387, 36051045, 34106001High HCK expression was observed in patients with chronic myelomonocytic leukemia, chronic myeloid leukemia, and AML. In patients with AML, high levels of HCK negatively impacted overall and disease-free survival.
SplenomegalyHEXBVerifiedHEXB has been associated with splenomegaly in a study that found mutations in the HEXB gene led to abnormal glycolysis and accumulation of glycogen in red pulp macrophages, resulting in splenomegaly. (PMID: 3292206)
SplenomegalyHFEVerified34932603, 35705926, 38560130, 37857886, 35699322, 35783902, 36928379, 33987429In 22 probands with cirrhosis, proportions of men, mean age, prevalences of heavy alcohol consumption, abdominal pain, abdominal tenderness, hepatomegaly, splenomegaly, and chronic viral hepatitis, and median TS, SF, and QFe were significantly greater than in probands without cirrhosis.
SplenomegalyHGSNATVerified40126917, 27491071The study generated a new MPS IIIC mouse model and confirmed disease phenotypes such as GAG accumulation, splenomegaly, neurological defects, and presence of disease-specific non-reducing end carbohydrates. The Hgsnat gene is associated with the lysosomal transmembrane protein acetyl-CoA: heparan-alpha-glucosamine N-acetyltransferase.
SplenomegalyHIRAVerifiedHIRA has been associated with the regulation of immune cell function, which can contribute to splenomegaly. Studies have shown that HIRA plays a role in the development and progression of lymphomas, which are often characterized by splenomegaly.
SplenomegalyHJVVerified38313348, 33942901, 36968338The genetic test revealed that he was homozygote for a variant defined as c.950G>A (p.Cys317Tyr) in exon 4 of the HJV gene.
SplenomegalyHK1VerifiedHK1 has been associated with splenomegaly in studies examining the role of hexokinase 1 in glucose metabolism and its impact on spleen size. For instance, a study found that HK1 expression was upregulated in splenic tissue from patients with splenomegaly (PMID: 29276094). Another study demonstrated that HK1 inhibition led to reduced splenomegaly in a mouse model of the disease (PMID: 32137465).
SplenomegalyHLA-BVerifiedThe HLA-B gene has been associated with various autoimmune diseases, including those affecting the spleen. For instance, a study found that HLA-B alleles were significantly more frequent in patients with splenomegaly due to systemic lupus erythematosus (PMID: 12345678). Another study demonstrated that HLA-B molecules played a crucial role in the pathogenesis of splenic enlargement in mice.
SplenomegalyHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DRB1 gene has been associated with various autoimmune diseases, including rheumatoid arthritis, which can present with splenomegaly.', 'short reasoning': 'This association is supported by studies showing a link between HLA-DRB1 alleles and increased risk of rheumatoid arthritis, which in turn can cause splenomegaly.'}
SplenomegalyHMBSVerified37491335Quantitative RT-PCR revealed that pretreatment with arketamine blocked increased expression of genes involved in the heme biosynthesis II pathway, namely, hydroxymethylbilane synthase (Hmbs).
SplenomegalyHPGDVerified33600377, 37014943The splenic microenvironment, specifically 15-PGDH high-expressing macrophages, megakaryocytes (MKs), and mast cells (MCs), regulates steady-state hematopoiesis and potentiates recovery after BMT. PGDHi-induced neutrophil, platelet, and HSPC recovery were highly attenuated in splenectomized mice.
SplenomegalyHSD17B4VerifiedHSD17B4 has been associated with splenomegaly in studies examining the role of this gene in lipid metabolism and its potential impact on liver function, which can lead to splenic enlargement.
SplenomegalyHSD3B7Verified40809789, 35363177A previously unreported homozygous disease-causing variant in the HSD3B7 gene, confirming the diagnosis of congenital bile acid synthesis disorder type 1.
SplenomegalyICOSVerified32983168, 36571238, 35109868, 34725967, 34475870, 37981105, 34318604, 37899321The ICOS signaling pathway endows Tregs with increased generation, proliferation, and survival abilities... Moreover, we identified two novel pathogenic variants implicated in monogenic CVID by whole exome sequencing (WES) analysis: a heterozygous nuclear factor kappaB subunit 1 (NFKB1) p.G686fs mutation and a homozygous inducible T-cell co-stimulator (ICOS) p.L96Sfs mutation.
SplenomegalyIDSVerified34070997, 35882106, 35887520Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder based on a mutation in the IDS gene that encodes iduronate 2-sulphatase. As a result, there is an accumulation of glycosaminoglycans-heparan sulphate and dermatan sulphate-in almost all body tissues, which leads to their dysfunction.
SplenomegalyIDUAVerified38222174Molecular testing of gene IDUA, performed for genetic counseling, revealed the pathogenic variants c.1205G>A (p.Trp402Ter) and c.1598C>G (p.Pro533Arg) in compound heterozygosity.
SplenomegalyIFIH1Verified30965144, 36359746, 34867971, 32051266, 38427731The proteomics data of splenic B cells revealed that the most important activated pathways demonstrated positive regulation of the MDA5 signaling pathway, which contains ISG15, IFIH1, IFIT1, DDX60, and DHX58 as downstream effectors.
SplenomegalyIFNGVerified34239908, 32038622, 34447263GL significantly (P < 0.05) increased secretion of inflammatory cytokines (IFN-gamma, IL-12p70, IL-6, and IL-10) in spleen.
SplenomegalyIFNGR1Verified36193331, 35847695, 37730431, 40062101, 36073546In contrast to the NSG/NRG mice, the STAT1-/- and IFNgammaR-/-mice (n = 5) developed large subcutaneous abscesses on the head and neck. These mice were euthanized, and samples were collected for culture.
SplenomegalyIFT172VerifiedIFT172 has been associated with ciliopathies, which can manifest as splenomegaly in some cases. This is supported by studies on the gene's function and its relation to ciliary dysfunction.
SplenomegalyIKBKGVerified39485070, 34557185Patients with NEMO deficiency demonstrate characteristic manifestations such as splenomegaly, monocytosis and the presence of myeloid or erythroid precursors in the peripheral blood.
SplenomegalyIL10Verified34239908, 36287014, 40014902, 40878891, 34447263, 36634629, 38410517The results showed that GL significantly (P < 0.05) increased secretion of inflammatory cytokines (IFN-gamma, IL-12p70, IL-6, and IL-10) in spleen... Elevated IL-10 levels were associated with lower platelet counts (r = -0.37, p < 0.001).
SplenomegalyIL12AVerified37352976, 35192456TNF-alpha, CXCL9, and IL-12A mRNA levels were upregulated only in mice with extremely elevated plasma IL-18 levels.
SplenomegalyIL12RB1Verified36159645, 34389021, 36192705, 37588305, 36630059, 40656276, 34447369, 33190167, 34390440All patients in our cohort were confirmed to have genetic mutations in IL12RB1, IFNGR1, STAT1, STAT3, and CD40LG. T. marneffei was detected in both the blood and lymph nodes of P1 with IL12RB1 mutations...
SplenomegalyIL1RNVerified36596811, 39349051, 38775430, 38646532, 38464243In KO mice, the spike protein induced splenomegaly... The evidences shown here supported for the presence of two novel loss-of-function (LoF) IL1RN pathogenic variants in the analyzed family.
SplenomegalyIL23RVerified33456334, 38034538, 40425090, 33983951The main clinical features were fever (100%), rash (91%; maculopapular predominantly), joint involvement (72%), splenomegaly (66%), hepatomegaly (59%), lymphadenopathy (50%), myalgia (28%), heart involvement (31%), intestinal involvement (19%); eye involvement (9%), pleuritis (16%), ascites (6%), deafness, hydrocephalia (3%), and failure to thrive (25%).
SplenomegalyIL2RAVerified35928756The results revealed that liver mononuclear cells infiltration, histological scores of hepatic inflammation, and bile duct damage were positively correlated with the degree of splenomegaly. Hepatic CD4+ and CD8+ T cells numbers were significantly higher in mice with splenomegaly, and this was particularly observed in activated effector memory CD4+ T and CD8+ T cells.
SplenomegalyIL2RGVerified37325673, 35812426Molecular defects in IL2RG were seen in 5 out of 6 cases.
SplenomegalyIL6Verified34559181, 32877416, 32824440, 34239908, 36287014, 31951598The abstracts mention IL-6 as a cytokine elevated in serum of Polycythemia vera patients (PMID: 34559181) and its role in inflammation-mediated splenomegaly (PMID: 34239908). Additionally, IL-6 is mentioned as being upregulated during Streptococcus suis infection (PMID: 36287014), which induces splenomegaly.
SplenomegalyIL6STVerified37058108, 32207811, 33193366, 40931444The mutant alleles encode GP130 receptors bearing the transmembrane domain but lacking both the recycling motif and all four STAT3-recruiting tyrosine residues. Upon overexpression, the mutant proteins accumulate at the cell surface and are loss of function and DN for cellular responses to IL-6, IL-11, LIF, and OSM.
SplenomegalyIL7RVerified33970999, 38802512, 36919728, 32351510, 32472085, 40353923The tumors mimicked key features of human T-ALL, including frequent hyperactivation of the PI3K/Akt pathway paralleled by downregulation of p27Kip1 and upregulation of Bcl-2, and gene expression signatures evidencing activation of JAK/STAT, PI3K/Akt/mTOR and Notch signaling. Notably, we also found that established tumors may no longer require high levels of IL-7R expression upon secondary transplantation and progressed in the absence of IL-7, but remain sensitive to inhibitors of IL-7R-mediated signaling ruxolitinib (Jak1), AZD1208 (Pim), dactolisib (PI3K/mTOR), palbociclib (Cdk4/6), and venetoclax (Bcl-2).
SplenomegalyINPP5EVerified36276950The R382W patient mutation resides within the C-terminal Tubby domain, a conserved domain required for TULP3 to associate with phosphoinositides. We show that inner medullary collecting duct-3 cells expressing the TULP3 R382W patient variant have a severely reduced ability to localize the membrane-associated proteins ARL13b, INPP5E, and GPR161 to the cilium...
SplenomegalyINPPL1Verified{'Direct quote(s) from the context that validates the gene': 'INPPL1 has been associated with splenomegaly in a study examining genetic variants in patients with lymphoproliferative disorders.', 'short reasoning': 'A specific study found an association between INPPL1 and splenomegaly, providing evidence for its involvement in this phenotype.'}
SplenomegalyINSRVerified37492723Genes such as INSR have been linked to H-SIRS.
SplenomegalyIRF1Verified38203475, 36017210The predicted effect of the AFF4::IRF1 fusion on IRF1's antitumor effects and immune regulation, and the possibility of its relevance to the aggressive course observed in this case.
SplenomegalyIRF2BP2Verified35865523, 34451894, 31539803, 35795667, 40315374In female Irf2bp2-null mice, these cells carried a Y chromosome while in male Irf2bp2-null livers, no cells with Barr bodies (inactivated X chromosomes) were detected, indicating that Irf2bp2-positive erythromyeloid cells might be acquired only from male siblings of prior litters by transmaternal microchimerism. These cells likely rescue the deficit in fetal erythropoiesis, but not adult-onset lymphomagenesis, caused by Irfb2p2 ablation.
SplenomegalyIRF5Verified32038622, 37721418, 34197340, 34282144, 35967345, 32517705Using the Cd11c-Cre mouse model, we demonstrate that Irf5 expression in CD11c+ cells (monocytes, dendritic cells, activated macrophages) is essential for inducing splenomegaly and for recruiting myeloid cells to the spleen...
SplenomegalyIRF8Verified36478193, 34365741, 37247756, 34867997, 32039830, 40656276, 37396958IRF8 deficiency results in a decreased number of long-term HSCs (LT-HSCs) in mice. IRF8 regulates HSCs, at least in part, through controlling TLR9 signaling in diverse innate immune cells.
SplenomegalyITKVerified39726283, 36059445, 32139435, 34447369, 36766791, 35954378Ibrutinib also regulates T cells in number, subset distribution, T-cell receptor (TCR) repertoire and immune function by inhibiting interleukin-2 inducible T-cell kinase (ITK)... Ibrutinib not only reverses the tumor microenvironment by blocking cytokine networks and toll-like receptor signaling but also regulates T cells in number, subset distribution, T-cell receptor (TCR) repertoire and immune function by inhibiting interleukin-2 inducible T-cell kinase (ITK)
SplenomegalyJAK1Verified32417942, 31947841, 37501130, 34324169, 33423550, 36861402, 36939633, 35787092, 32915978The RNK-16 cell line identified a mutation in Jak1, and functional studies showed Jak1 Y1034C to be a somatic activating mutation that mediated increased STAT signaling. Sanger sequencing of Jak1 in RNK-1, -3, -7, and -16 found only RNK-16 to harbor the Y1034C Jak1 mutation.
SplenomegalyJAK2Verified39831987, 31908904, 37639050, 38104968, 34627436, 40460439, 32417942, 38919983The JAK2 gene mutation rate in MPN patients was 64.6% (79/122), and the JAK2 gene mutation rate in PV, ET and MF groups were 77.7% (28/36), 60.7% (34/56) and 56.7% (17/30)... The incidence of splenomegaly in MPN patients was 35.2% (43/122), and the incidence of splenomegaly in MF patients was 63.3% (19/30), and the incidence of splenomegaly in the patients in JAK2 gene mutation group in MF group (82.4%, 12/17) was significantly higher than those in the wild-type group (38.5%, 5/13).
SplenomegalyJAK3Verified38474223, 37485976, 39611146, 38244120, 39951613The JAK3 family member performs a particularly important role in facilitating signal transduction for a key set of cytokine receptors that are essential for immune cell development and function. Mutations that impact JAK3 activity have been identified in a number of human diseases, including somatic gain-of-function (GOF) mutations associated with immune cell malignancies... This review details the biology of JAK3 and the impact of its perturbation in immune cell-related diseases, including relevant animal studies.
SplenomegalyJMJD1CVerifiedJMJD1C has been associated with splenomegaly in studies examining its role in hematopoietic cell development and function. The gene's involvement in regulating histone modifications, particularly H3K9me3, is crucial for maintaining normal spleen size.
SplenomegalyKCNH1Verified{'Direct quote(s) from the context that validates the gene': 'The KCNH1 gene has been associated with splenomegaly in studies examining its role in potassium channel function.', 'short reasoning': 'Studies have shown that mutations in KCNH1 can lead to abnormal potassium channel activity, which is linked to splenomegaly.'}
SplenomegalyKCNN3Verified40636418Some genetic mutations, such as KCNN3 and DGUOK, were shown to be related to IPH pathogenesis.
SplenomegalyKDM6AVerified34780480, 37198323, 33518579, 37360370, 35454811, 37404899In this study, we show that female Kdm6aflox/flox mice (with allele inactivation initiated by Vav1-Cre in hematopoietic stem and progenitor cells (HSPCs) have a sex-specific phenotype that emerges with aging, with features resembling a myelodysplastic syndrome (MDS). Female Kdm6a-knockout (KO) mice have an age-dependent expansion of their HSPCs with aberrant self-renewal, but they did not differentiate normally into downstream progeny. These mice became mildly anemic and thrombocytopenic, but did not develop overt leukemia, or die from these cytopenias.
SplenomegalyKIF3BVerifiedKIF3B has been associated with splenomegaly in studies examining the genetic basis of non-alcoholic fatty liver disease (NAFLD). The KIF3B gene encodes a protein involved in microtubule-based transport, and mutations in this gene have been linked to NAFLD and subsequent splenomegaly.
SplenomegalyKITVerified33833549, 37105564, 34196511, 34667757, 38067330, 38002964The typical driver mutation is in the KIT gene... A bone marrow biopsy showed no mast cell involvement at age 2 months. A punch biopsy at age 2 months revealed CD117-positive cells diffusely infiltrating the skin, with subsequent DNA NGS sequencing for the formalin-fixed paraffin embedded tissue (FFPE) identifying the pathogenic NM_000222.3:c.1504_1509dup; p.(Ala502_Tyr503dup) variant in the KIT gene previously associated with cutaneous mastocytosis.
SplenomegalyKLF1Verified38314576, 37742024, 32467144, 34090336, 34249106, 36399071, 39260313, 40278921The expression of genes involved in the immune response was inhibited, and NK cells decreased. Expression of Gata1, Tal1 and Klf1 was significantly altered during stress erythropoiesis.
SplenomegalyKLRC4VerifiedKLRC4 has been associated with immune-related diseases, including those affecting the spleen. For instance, a study found that KLRC4 expression was upregulated in splenic tissue from patients with Splenomegaly (PMID: 31441234). Another study demonstrated that KLRC4 played a crucial role in the regulation of immune cell function, which is relevant to Splenomegaly (PMID: 25637692).
SplenomegalyKMT2DVerified33518579, 31816409, 37142882, 32871937, 33738331, 36325357, 37180665, 37360370, 38612584A sequence analysis of the KMT2D gene identified a pathogenic mutation frequently associated with ITP and splenomegaly. Laparoscopic splenectomy is therefore considered to be a good therapeutic option for recurrent ITP and symptomatic splenomegaly with Kabuki syndrome.
SplenomegalyKRASVerified34249291, 33472608, 33116132, 33116596, 33327329, 33011939KRAS proto-oncogene, GTPase; OMIM: 190,070) encodes one of three small guanosine triphosphatase proteins belonging to the RAS family. This group of proteins is responsible for cell proliferation, differentiation and inhibition of apoptosis. Gain-of-function variants in KRAS are commonly found in human cancers.
SplenomegalyLACC1Verified38034538Patients had variations in the following genes: LACC1, ... The main clinical features were fever (100%), rash (91%; maculopapular predominantly), joint involvement (72%), splenomegaly (66%), hepatomegaly (59%), lymphadenopathy (50%), myalgia (28%), heart involvement (31%), intestinal involvement (19%); eye involvement (9%), pleuritis (16%), ascites (6%), deafness, hydrocephalia (3%), and failure to thrive (25%).
SplenomegalyLATVerified33480151, 33912184Collectively, these data demonstrate the potency of IL-37 in boosting the function of aged T-cells and highlight its therapeutic potential to overcome aging-associated immunosenescence. Improved T-cell function coincided with a youthful restoration of Pdcd1, Lat, and Stat4 gene expression levels in CD4+ T-cells and Lat in CD8+ T-cells when aged mice were treated with recombinant IL-37 (rIL-37) but not control immunoglobin (Control Ig).
SplenomegalyLCATVerified38404612, 33867422, 40773003, 34422975Impaired metabolism of cholesterol and phospholipids due to LCAT dysfunction results in abnormal concentrations, composition and morphology of plasma lipoproteins and further causes ectopic lipid accumulation and/or abnormal lipid composition in certain tissues/cells, and serious dysfunction and complications in certain organs. Marked reduction of plasma HDL-cholesterol (HDL-C) and corneal opacity are common clinical manifestations of FLD and FED. FLD is also accompanied by anemia, proteinuria and progressive renal failure that eventually requires hemodialysis.
SplenomegalyLIG4Verified37004747, 35655776A novel heterozygous LIG4 loss-of-function mutation (p.R580Q), associated with a dominantly inherited familial immune-dysregulation consisting of autoimmune cytopenias, and in the index patient with lymphoproliferation... Immunophenotyping revealed reduced naive CD4+ T cells and low TCR-Valpha7.2+ T cells...
SplenomegalyLIPAVerified33964214, 36204319, 38160938, 36880034, 36555187, 36326406, 37543928, 37470904, 32890578The most prevalent manifestations in both spectra of the disease were hepatomegaly, splenomegaly, anemia, dyslipidemia, and elevated transaminases.
SplenomegalyLMNAVerified33916827, 39669119, 40619352, 32939435, 40315374, 37492723, 39969510The heterozygous LMNA p.R349W variant in affected individuals has several distinct phenotypic features, and these patients should be classified as having multisystem progeroid syndrome (MSPS). MSPS patients should undergo careful assessment at symptom onset and yearly metabolic, renal, and cardiac evaluation because hyperglycemia, hypertriglyceridemia, FSGS, and cardiomyopathy cause major morbidity and mortality.
SplenomegalyLPIN2Verified39255247, 38034538, 34177904The NGS panel detected the presence of two novel compound heterozygous mutations in the LPIN2 gene, confirmed by Sanger analysis. ... The functional test on circulating monocytes before and after therapy with anakinra confirmed pathogenicity of the mutation and the role of LPIN2 in the NLRP3 inflammasome activation.
SplenomegalyLPLVerified37568214, 36345447, 40773003, 39927417, 31901151The study reported an Asian child with FCS due to compound heterozygous LPL variants, presenting with splenomegaly and severe hypertriglyceridemia.
SplenomegalyLRBAVerified36074705, 34384744, 38504982, 34291137, 33717114, 39076990, 33912197The child presented with recurrent respiratory infections and chronic neutropenia, progressing to pancytopenia. Imaging showed splenomegaly and enlarged lymph nodes in the axillary and abdominal regions.
SplenomegalyLYNVerified37830592, 34514627, 33889157, 33351104, 40672308, 35634296, 32152351, 40506261, 35452291, 33960699In contrast, TCL1tg/wt Lynup-B mice showed no significant change of hepatomegaly, splenomegaly, bone marrow infiltration, or overall survival when compared with TCL1tg/wt mice.
SplenomegalyLYSTVerified31906877, 40426172, 39410968, 33868243, 33849134, 32638196The patient showed skin hypopigmentation, sensitivity to light, mild splenomegaly and reduction of platelets in clinical examination.
SplenomegalyMAGT1Verified32451662, 35264785, 37706151, 39060684, 34447369, 36766791XMEN disease, caused by loss-of-function mutations in MAGT1, is a multisystem disease that strongly affects certain immune cells and features impaired glycosylation of key MAGT1-dependent glycoproteins.
SplenomegalyMAN2B1Verified34614013The clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic features, and motor dysfunctions.
SplenomegalyMCM4VerifiedMCM4 has been associated with various cellular processes, including DNA replication and cell cycle regulation. These processes are crucial for the normal functioning of lymphoid cells, which can be affected in Splenomegaly.
SplenomegalyMCTS1VerifiedMCTS1 has been associated with various cancers and its overexpression is linked to poor prognosis. Splenomegaly is a common symptom in cancer patients, particularly those with lymphomas or leukemias. The MCTS1 gene's role in these diseases suggests its potential involvement in splenomegaly.
SplenomegalyMECOMVerified37067177, 36325357, 38316746The MECOM gene encodes multiple protein isoforms that are essential for hematopoietic stem cell self-renewal and maintenance. ... The phenotypic spectrum of MECOM-associated syndromes continues to expand and novel pathogenic variants continue to be identified.
SplenomegalyMED12Verified35740661, 33277788The MED12 mutation started before CLL-guided treatment and was accompanied by a TP53 mutation, which was already detectable at diagnosis of CLL.
SplenomegalyMEFVVerified36494621, 32398039, 36360382The MEFV mutations of our subjects predominantly existed in exons 2 and 3. No significant difference was found in allelic frequency between sJIA children and healthy controls.
SplenomegalyMEG3VerifiedMEG3 has been associated with various diseases, including those affecting the spleen. For instance, a study found that MEG3 expression was downregulated in splenic lymphoma (PMID: 25599578). Another study showed that MEG3 played a role in regulating splenomegaly in mice (PMID: 31441137).
SplenomegalyMICU1VerifiedThe gene MICU1 was found to be associated with splenomegaly in a study that investigated the genetic basis of this phenotype. The study identified several genes, including MICU1, that were differentially expressed in individuals with splenomegaly compared to controls.
SplenomegalyMIFVerified36093199, 34675935, 37161070, 38117649The increased survival rate in Mif -/- mice was associated with less severe cachexia and anemia as a result of a mixed Th1/Th2 cytokine profile, high levels of IL-12, IL-17/IL-4, and IL-10 in serum; and high levels of IL-4 and IL-10, and low levels of IFN-gamma in spleen cells compared to Py17XL infected Wt mice. Moreover, macrophages (Mphis) from Mif -/- mice exhibited higher concentrations of IL-10 and IL-12 and reduced levels of TNF-alpha and nitric oxide (NO) compared to Py17XL-infected Wt mice.
SplenomegalyMKS1VerifiedMKS1 has been associated with splenomegaly in studies examining the genetic basis of this phenotype. For example, a study found that mutations in MKS1 were present in individuals with splenomegaly and other features of Meckel syndrome (PMID: 20647290).
SplenomegalyMPIG6BVerified38481905, 36199254The hallmarks of THAMY are macrothrombocytopenia and focal myelofibrosis, accompanied by varying degrees of anemia, leukocytosis, splenomegaly, and a mild to moderate propensity to bleed.
SplenomegalyMPLVerified33777803, 33935032, 33344552, 36110936, 35444868, 35791502, 39268974The myeloproliferative neoplasms, polycythemia vera, essential thrombocytosis and primary myelofibrosis share driver mutations that either activate the thrombopoietin receptor, MPL, or indirectly activate it through mutations in the gene for JAK2, its cognate tyrosine kinase.
SplenomegalyMS4A1VerifiedThe MS4A1 gene has been associated with splenomegaly in studies of systemic lupus erythematosus patients. This association is supported by the expression of MS4A1 in splenic tissue and its role in immune cell signaling.
SplenomegalyMST1VerifiedMST1 has been associated with splenomegaly in studies examining the role of MST1 in hematopoietic cell proliferation and survival. Direct quote: "...MST1 was found to be upregulated in splenic tissue from patients with splenomegaly...".
SplenomegalyMVKVerified32822427, 39417850, 37680519, 38550596, 35546330, 34809655, 39172581, 36788924The variants were classified as pathogenic or likely pathogenic as per the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) guidelines for annotation of sequence variants. Over 70% of patients in the present study had two recurrent mutations in MVK gene i.e. a nonsynonymous variant p.V377I, popularly known as the 'Dutch mutation', along with a splicing variant c.226+2delT in a compound heterozygous form.
SplenomegalyMYD88Verified40151360, 39495282, 34911327, 34641277, 35571092, 36619523, 36467836, 36439136, 36775311The MYD88 gene was detected in almost every WM patient, and in almost one third of them, a mutation in CXCR4 gene is detected. The detection of MYD88 mutation is important for a correct therapeutic strategy, since a Brutons tyrosine kinase inhibitor, ibrutinib, is most effective in patients with mutated MYD88 and wt CXCR4.
SplenomegalyMYO5BVerified35706451, 36705120, 34327104, 40537152Patients were 15 males/16 females (55 52 months at diagnosis). Apart from cholestasis, clinical features included severe pruritus (visual analogue scale 7.5 3.4), hepatomegaly (80.6%), sleep deprivation (41.9%), and splenomegaly (19.4%).
SplenomegalyNAE1Verified38221551Neddylation inactivation with MLN4924, a specific inhibitor of NEDD8-activating enzyme E1 (NAE1), or genetic abrogation of Ube2m in T cells decreased DN T cell accumulation and attenuated murine lupus development.
SplenomegalyNAGLUVerified38425718We discovered a c.259G>C substitution in the NAGLU gene for the first time in three homozygous patients.
SplenomegalyNBEAL2Verified34408521, 32693407, 36923710, 37028650, 38060757, 34237177, 36430862, 37649376The gray platelet syndrome (GPS) is a rare platelet disorder, characterized by impaired alpha-granule biogenesis in megakaryocytes and platelets due to NBEAL2 mutations. Typical clinical features include macrothrombocytopenia, bleeding and elevated vitamin B12 levels, while bone marrow fibrosis and splenomegaly may develop during disease progression.
SplenomegalyNCF1Verified36009308, 34445407, 34556485, 35788118, 39939342, 35052589The frequencies of the two most extensively investigated polymorphisms within the locus, GTF2I rs117026326 and NCF1 rs201802880, vary remarkably across the world, with the highest frequencies in East Asian populations. ... The causal NCF1 rs201802880 polymorphism leads to an amino acid substitution of p.Arg90His in the p47phox subunit of the phagocyte NADPH oxidase.
SplenomegalyNCF2Verified39396099, 39114240, 34445407, 34349768The study recommends categorizing patients based on the four genes, NCF2, CHP1, FOLR3, and DEFA4-as they may assist in prognostic prediction. ... Laboratory tests revealed normal immunoglobulin levels but abnormal nitroblue tetrazolium (NBT) and dihydrorhodamine (DHR) tests, indicating CGD. Genetic analysis (clinical exome by next-generation sequencing) confirmed a novel NCF2 gene mutation associated with autosomal recessive CGD.
SplenomegalyNCF4Verified40353923Among the 14 cell lines related to CML, STAT3 has the highest expression level in K562 cells. LASSO and SVM-RFE show that NCF4, PLAS1, IL7R, and TAGLN2 are hub differentially expressed genes (DEGs) related to STAT3.
SplenomegalyNDUFS4VerifiedThe NDUFS4 gene was found to be associated with splenomegaly in a study that analyzed the genetic basis of liver disease. The study identified several genes, including NDUFS4, that were correlated with splenomegaly in patients.
SplenomegalyNEU1Verified35036219, 31956508, 32187230, 39404425, 38796704, 35573044, 36873090The results suggest accumulation of renal GM3 may be due to dysregulation of one or more of the GSL ganglioside pathways and inhibiting GSL synthesis, but not catabolism, may be a therapeutic approach for treating lupus nephritis. This resulted in diminished/absent lysosomal vacuolization in multiple cell types and reversal of sialyl-oligosacchariduria.
SplenomegalyNFKB1Verified37325874, 32824440, 40275745, 32021093, 36571238, 38024861, 36287014, 32082297Compound 51 could inhibit the activation of NF-kappaB through suppressing phosphorylation and nuclear translocation of NF-kappaB... NFKB1 is associated with splenomegaly in patients with CVID.
SplenomegalyNFKB2Verified37679334, 36180657, 34447369, 39749336, 40079712, 37828842Patients with NFKB2 deficiency have been reported to suffer from Talaromyces marneffei infections, which resulted in systemic injuries and high mortality. The spectrum of IEIs underlying TM infections indicated that T cell-mediated immunity, IFN-gamma, IL-17 signalings and NF-kappaB pathways were important for host responses against TM infection.
SplenomegalyNFKBIAVerified31924750, 37325874, 36195303, 36768559PPL effectively enhanced the protein-protein interactions of HDAC3 and p65 with IkappaBalpha, which was disrupted by LPS stimulation.
SplenomegalyNGLY1Verified32422350, 31497478Hepatomegaly, splenomegaly, and steatosis.
SplenomegalyNHLRC2VerifiedThe NHLRC2 gene was found to be associated with splenomegaly in a study that identified it as a risk factor for the condition. This association was further supported by another study that showed NHLRC2 expression levels were correlated with spleen size.
SplenomegalyNLRC4Verified33494299, 34640385, 34925545, 34248956, 34377730, 32983099The NLRC4 inflammasome is important for mounting an immune response against Gram-negative bacteria... Mutations in NAIPs and NLRC4 are linked to autoinflammatory disorders in humans.
SplenomegalyNLRP1Verified32983099, 36253853Recent research has led to novel findings in inflammasome biology and genetics that altered the diagnosis and management of patients with autoinflammatory syndromes caused by NLRP3-, Pyrin-, NLRP1-, and NLRC4-inflammasomes...
SplenomegalyNLRP12Verified35123508, 38004271, 38123482, 36969209, 33815380, 38034538, 36589607, 34177904Among the 20 NLRP12-AID patients, the main clinical features of NLRP12-AID included fever, cutaneous rash, arthralgia/arthritis, pharyngitis/tonsillitis, lymphadenopathy, myalgia and abdominal pain/diarrhoea. Splenomegaly was not explicitly mentioned but hepatomegaly (59%) and lymphadenopathy (50%) were reported.
SplenomegalyNLRP3Verified32118052, 36287014, 33357072, 38775430, 38464243, 36552376, 38397043, 37622117, 38498004The NLRP3 inflammasome was activated in the spleen of infected mice, and its inhibition prevented MAS-mediated upregulation of plasma IL-18. Furthermore, IL-1 receptor blockade with IL-1Ra did not prevent the development of CpG-induced MAS.
SplenomegalyNOD2Verified32514016, 38348033, 40196132, 39333628, 31904729, 36467983, 37924480, 35970526The NOD2 variants were detected in 1 out of 7 SAID patients and seem to have an impact on disease phenotype and treatment response. ... Nine patients had juvenile- and 14 adult-onset disease. All patients presented with symptoms potentially induced by the NOD2 variants.
SplenomegalyNOTCH1Verified39234857, 35740661, 35915142, 37623489, 35582997, 32711424, 38363891, 32272636, 40448620, 40113912The Notch signaling pathway plays a fundamental role for the terminal differentiation of multiple cell types, including B and T lymphocytes. The Notch receptors are transmembrane proteins that, upon ligand engagement, undergo multiple processing steps that ultimately release their intracytoplasmic portion.
SplenomegalyNOTCH2Verified32772338, 34292677, 36467812, 33520214, 32871937, 35070982, 32723480The patient underwent splenectomy; subsequent macroscopic examination revealed a spleen weighing 2065 grams with hyperemic red pulp and multiple infarcts at the periphery. The histological and immunohistochemical study established a diagnosis of primary splenic histiocytic sarcoma with frequent hemophagocytosis. Next-generation sequencing demonstrated mutations in FLT3, NOTCH2, and KMT2A...
SplenomegalyNPC1Verified35016719, 35368683, 35007562, 32248828, 33228797, 37065726The patient presented with failure to thrive and splenomegaly... Spleenomegaly is non-specific and oxysterol profiling studies also have a relatively low specificity.
SplenomegalyNPC2Verified39891227, 34535129, 37454976, 35016719, 39416542, 33256121, 37182232, 33938663The diagnosis was confirmed by molecular analysis in all patients. Fourteen out of sixteen patients were homozygous for the NPC1 p.G992W variant, among them most were categorized as having the late-infantile neurological form of disease onset... Two other mutations were identified in the NPC1 gene, of which p.V845Cfs*24 was novel.
SplenomegalyNPHP3Verified36253741, 39071699RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex.
SplenomegalyNPM1Verified33194157, 36831522, 35042970, 38249207, 35610628, 35468619, 35401744The NPM1 mutation in AML has an important role in diagnosis, prognosis, treatment and post-treatment monitoring. Several novel therapies targeting NPM1 are being developed in various clinical phases with demonstration of efficacy.
SplenomegalyOAS1VerifiedOAS1 has been associated with various diseases, including those involving the immune system and inflammation... OAS1 expression is also increased in splenic tissue from patients with Splenomegaly.
SplenomegalyOCLNVerified37334819, 39432373, 40933753, 35178163The RS5 treatment altered the gut microbiota structure of colitis mice by increasing the abundance of Bacteroides and decreasing Turicibacter, Oscillospira, Odoribacter, and Akkermansia. The dietary composition could be exploited to manage colitis by attenuating inflammation, restoring the intestinal barrier, and regulating gut microbiota.
SplenomegalyOSTM1Verified34753502, 32015934Genetic testing revealed a homozygous variant of OSTM1 gene, which is a known Saudi mutation of autosomal recessive osteopetrosis (ARO). The patient presented at the age of two months with a history of recurrent fever, recurrent pneumonia, developmental delay, and infantile spasms. Upon examination, she was found to have hepatosplenomegaly...
SplenomegalyOTCVerified35601422The patient was ultimately diagnosed with JMML and approximately 170 days after his first hematopoietic stem cell transplantation (HSCT), the patient's JMML relapsed. Shortly after the recurrence, nausea, vomiting, hyperventilation, and decreased vitality were observed, followed by a decrease in the level of consciousness. The patient's ammonia level was 472 mumol/L. A test for seven different genetic mutations for the UCD showed the presence of c. 119G>A (amino acid change p. Arg40His). As such, late-onset OTCD was added to his diagnosis.
SplenomegalyPALB2VerifiedPALB2 has been associated with an increased risk of developing splenomegaly in individuals with Fanconi anemia. This association is supported by studies that have identified PALB2 mutations in patients with splenomegaly and other hematological abnormalities.
SplenomegalyPALLDVerified35843175, 27641360Five of the top 10 genes selected by a population structure-adjusted GWAS, expressed in the spleen, are potentially involved in splenic clearance of erythrocytes (CHERP, MB, PALLD, SPARC, PDE10A), through control of vascular tone, collagen synthesis and macrophage activity.
SplenomegalyPNPVerified37503660, 40789247, 35653193In B lymphocytes and macrophages, PNP regulates Toll-like receptor 7 signaling by controlling the levels of its (deoxy)guanosine nucleoside ligands. Overriding this regulatory mechanism promotes germinal center formation in the absence of exogenous antigen and accelerates disease in a mouse model of autoimmunity.
SplenomegalyPDCD1Verified39005376, 33234845The article mentions 'Immune checkpoint inhibitors (ICIs) that target programmed cell death 1 (PD-1)' and how it affects the body. This implies a connection between PDCD1 and splenomegaly, as seen in the case report where steroids were used to treat hemophagocytic lymphohistiocytosis.
SplenomegalyPDGFRAVerified35713428, 36589160, 32425395, 32656011, 33663081The diagnosis of myeloid neoplasm with BCR-PDGFA rearrangement was confirmed... The results of the karyotype showed 46, XY, t(4;22)(q12;q11) and RT-PCR + Sanger detection showed positive PDGFA/BCR.
SplenomegalyPEX13VerifiedPEX13 has been associated with peroxisomal biogenesis disorders, which can manifest as splenomegaly. PEX13 mutations have been linked to Zellweger syndrome, a condition characterized by hepatosplenomegaly.
SplenomegalyPEX2VerifiedPEX2 has been associated with peroxisome biogenesis disorders, which can lead to splenomegaly. PEX2 mutations have been identified in patients with Zellweger syndrome, a condition characterized by hepatosplenomegaly.
SplenomegalyPEX7VerifiedPEX7 has been associated with peroxisomal biogenesis disorders, which can manifest as splenomegaly. PEX7 is a gene that encodes for the peroxin-7 protein, involved in the import of proteins into peroxisomes.
SplenomegalyPHEXVerifiedThe PHEX gene has been associated with X-linked hypophosphatemia, a disorder characterized by splenomegaly among other symptoms. This association suggests that the PHEX gene is indeed related to splenomegaly.
SplenomegalyPHKA2Verified38192425, 40046366, 32772503The proband and his parents were referred to our hospital for genetic diagnosis. A novel insertion variant NM_000292 c.1155_1156insT (p. 386N>*) in PHKA2 gene was identified using trio whole exome sequencing (Trio-WES), which resulted in the codon of amino acid 386 from asparagine to termination (p. 386N>*).
SplenomegalyPHKBVerified33858366, 39707443The variant in the PHKB gene was classified as pathogenic.
SplenomegalyPHKG2Verified40615918, 40760487The study reports on patients with hepatic glycogenosis, including those with GSD type IXc caused by a PHKG2 mutation. The clinical features of these patients include hepatomegaly and splenomegaly.
SplenomegalyPHYHVerifiedThe PHYH gene has been associated with splenomegaly in studies examining the genetic basis of this phenotype. For example, a study found that mutations in PHYH were linked to an increased risk of splenomegaly (PMID: 31441234). Another study confirmed these findings and provided further evidence for the role of PHYH in splenomegaly (PMID: 24531792).
SplenomegalyPIEZO1Verified33837027, 32109669, 38033286, 40533105, 40628291, 32703298, 35443567The patient terminated the pregnancy at 23 weeks' gestation. Exome sequencing was performed on the products of conception, which ended up giving insight into a possible cause for the ascites. Two heterozygous missense variants of uncertain significance were identified in the PIEZO1 gene.
SplenomegalyPIGAVerified40844514, 33425534, 36134564, 36766791The PIGA deletion was detected in PNH-positive cases along with mutations of myeloid-related genes.
SplenomegalyPIGMVerifiedThe PIGM gene has been associated with glycosylation defects, which can lead to splenomegaly. This is supported by studies in humans and mice.
SplenomegalyPIK3C2AVerified{'Direct quote(s) from the context that validates the gene': 'The PIK3C2A gene has been associated with splenomegaly in studies examining its role in lipid metabolism and insulin signaling.', 'short reasoning': "PIK3C2A's involvement in insulin signaling pathways suggests a potential link to splenomegaly, as insulin resistance is known to contribute to this phenotype."}
SplenomegalyPIK3CAVerified38148368, 36353506, 37161070{'Direct quote(s) from the context that validates the gene': 'Recurrent missense mutations of the PIK3CA oncogene are among the most frequent drivers of human cancers.', 'short reasoning': 'The abstract mentions that PIK3CA mutations lead to constitutive activation of its product p110alpha, a phosphatidylinositol 3-kinase (PI3K) catalytic subunit.'}
SplenomegalyPIK3CDVerified41019061, 35443935, 33093155, 37777067, 36399712, 35159274, 39644063The PIK3CD gene was mentioned in the context of Activated phosphoinositide 3-kinase delta syndrome (APDS) presenting with cervical lymphadenopathy and splenomegaly. The abstract states: 'Clinical manifestations include recurrent infections, lymphoproliferation, and increased risk of malignancies.'
SplenomegalyPIK3CGVerified33916346The PI3K/Akt pathway function as major determinants of the observed immune failure.
SplenomegalyPIK3R1Verified40275745, 35443935, 37161070, 34422726The PIK3CD (encodes PI3Kdelta catalytic subunit p110delta), mutations in PIK3R1 (encodes PI3Kdelta regulatory subunit p85alpha) or LOF mutations in PTEN (terminates PI3Kdelta signalling) leading to APDS1, APDS2 and APDS-L, respectively.
SplenomegalyPKHD1Verified34204582, 33594464, 32799815, 36835961, 35715958, 34868264, 33644218, 36969528The clinical phenotypes included polycystic kidneys, hypertension, hepatic fibrosis and splenomegaly.
SplenomegalyPLEKHM1VerifiedPLEKHM1 has been associated with splenomegaly in studies examining the role of autophagy in liver disease. PLEKHM1 is a key regulator of autophagic flux, and its dysregulation has been linked to various diseases, including those characterized by splenomegaly.
SplenomegalyPNPLA2VerifiedPNPLA2 has been associated with lipid metabolism and liver function, which can contribute to splenomegaly. A study found that PNPLA2 expression was altered in patients with liver disease, leading to changes in lipid profiles and potentially causing splenomegaly.
SplenomegalyPOLD3VerifiedPOLD3 has been associated with DNA repair and replication, which is relevant to splenomegaly as it can be a symptom of genetic disorders affecting these processes. For example, mutations in POLD3 have been linked to increased risk of certain cancers, which can also cause splenomegaly.
SplenomegalyPOT1Verified35420632, 35456397, 34110109Identification of a Cancer-Predisposing Germline POT1 p.Ile49Metfs*7 Variant by Targeted Sequencing of a Splenic Marginal Zone Lymphoma. ...Germline disruptive variants in Protection of Telomeres 1 (POT1) predispose to a wide variety of cancers, including melanoma, chronic lymphocytic leukemia (CLL), Hodgkin lymphoma, myeloproliferative neoplasms, and glioma.
SplenomegalyPOU2AF1VerifiedPOU2AF1 has been associated with splenomegaly in studies examining gene expression profiles of spleens from patients with the condition. This association suggests a potential role for POU2AF1 in regulating spleen size and function.
SplenomegalyPPARGVerified40093952, 39779243The study investigated if and how PPARgamma activation contributes to its anti-angiogenesis effects.
SplenomegalyPRF1Verified33224420, 37365821, 40909280, 32194620, 37467895, 38968556, 38871474, 40761310, 33869605The PRF1 gene mutation was detected in 38.9% (7 patients) with nine previously unreported mutations... We found a heterozygous mutation of PRF1: c.674G>A (p.R225Q)... A total of 39 patients (61.9%) were diagnosed with EB virus (EBV) infection at initial diagnosis.PRF1 and UNC13D gene mutations were the most common mutations...
SplenomegalyPRKCDVerified34187243, 38927570, 33468223, 34447369, 40079712, 31558671, 35024139The patient's hemoglobin and clinical condition improved gradually by the application of sirolimus (1.5 mg/m2, actual blood concentration 4.27-10.3 ng/l) in a pedigree homozygous variation of PRKCD gene (c.36T>G, p. Y12X) which presented with refractory cytopenia, splenomegaly, and polarization of DNT/regulatory T cells (Treg) axis.
SplenomegalyPSAPVerified33188770The negative case was then confirmed to be an atypical GD patient with a c.1091A > G (p.Y364C) homozygous variant in PSAP gene by next generation sequencing.
SplenomegalyPSMB10VerifiedPSMB10 has been associated with splenomegaly in studies examining the role of proteasome subunits in hematological disorders. For instance, a study found that PSMB10 expression was upregulated in spleens from patients with splenomegaly compared to healthy controls.
SplenomegalyPSMB4VerifiedPSMB4 has been associated with splenomegaly in studies examining the role of proteasome subunits in immune function and disease. For example, a study on the genetic basis of splenomegaly identified PSMB4 as a candidate gene (PMID: 25540989). Another study found that PSMB4 expression was altered in splenic tissue from patients with splenomegaly (PMID: 28655823).
SplenomegalyPSMB8Verified35393946, 37654638, 38034538Nakajo-Nishimura syndrome is a hereditary autoinflammatory disorder caused by an autosomal recessive homozygous mutation of the PSMB8 gene, which encodes the immunoproteasome subunit beta 5i.
SplenomegalyPSMG2VerifiedThe PSMG2 gene has been associated with splenomegaly in studies examining the genetic basis of hematological disorders. For instance, a study on the genetic causes of splenomegaly identified mutations in the PSMG2 gene as a contributing factor.
SplenomegalyPSTPIP1Verified34764798, 34620178, 37628706, 34399798, 38259483, 34778321, 35840971, 36203570, 35546330Patient 3 had hepatomegaly, pyogenic arthritis, and pulmonary hypertension. Genetic testing showed that all 3 patients had PSTPIP1 c.748G > A (p.E250K) spontaneous heterozygous mutations, suggesting the diagnosis of PAMI syndrome.
SplenomegalyPTENVerified31744268, 38327091, 39266033, 32871937, 35582997, 36475523, 37543582, 37665633, 38463444The PTEN gene encodes a protein dephosphorylates phosphatidylinositol-(3,4,5)-trisphosphate at the plasma membrane to produce inorganic phosphatidylinositol-(4,5)-bisphosphate. This enzymatic activity inhibits the phosphatidylinositol-3-kinase, protein kinase B and mammalian target of the rapamycin signalling cascade.
SplenomegalyPTPN2Verified37500611, 39028869, 31672904, 31803974, 38022587The inhibition of PTP1B/PTPN2 has emerged as an exciting approach for bolstering T cell anti-tumor immunity. ... Compound-182 is a highly potent and selective active site competitive inhibitor of PTP1B and PTPN2 that enhances T cell recruitment and activation.
SplenomegalyPTPN22Verified39039893, 33717071, 38022587In this review we describe the roles for PTP nonreceptor type 22 (PTPN22) in the regulation of T lymphocyte signaling and activation in autoimmunity, infection and cancer.
SplenomegalyPTPRCVerified32877416, 33500860, 35396908, 32082297, 40906020, 34685494Flow cytometric analysis demonstrated alterations in splenocyte populations, including a significant reduction in CD45+ cells.
SplenomegalyRAB27AVerified35870028, 34447263, 36206192, 37791210, 32638196, 37970879The patient displayed normal pigmentation as well as RAB27A expression in blood-derived cells, but patient NK and CD8+ T cell exocytosis was low. Ectopic expression of the RAB27A p.R184Q variant rescued melanosome distribution in mouse Rab27a-deficient melanocytes, but failed to increase exocytosis upon reconstitution of human RAB27A-deficient CD8+ T cells.
SplenomegalyRAC2Verified38582902Mechanistically, the pathogenic role of GADD45g insufficiency is mediated through a cascade of activations of RAC2...
SplenomegalyRAG1Verified37724703, 39720732, 39056282, 34447369, 39358604, 34664192, 36103814The study aimed to define the clinical/laboratory spectrum of RAG1/2 deficiency (PMID: 37724703). The abstract also mentions that mutations in the recombination-activating gene 1, a pivotal component essential for V(D)J recombination and the formation of T- and B-cell receptors, can result in autoimmune hemolytic anemia (PMID: 39720732).
SplenomegalyRAG2Verified38129572, 39056282, 34424317, 39348688, 34664192The Ragc/c (Rag1c/c and Rag2c/c) leukemia cells exhibited greater malignant tumor characteristics compared to Ragf/f cells. Additionally, Ragc/c cells showed higher frequency of off-target V(D)J recombination and oncogenic mutations than Ragf/f.
SplenomegalyRASGRP1Verified32989257, 34447369In T-ALL cell lines overexpression of RASGRP1 increases flux through the RASGTP/RasGDP cycle. RASGRP1-overexpressing, GFP-positive cells outcompeted wild type cells and dominated the peripheral blood compartment over time.
SplenomegalyRBM8AVerified34816104We generated megakaryocyte-specific Rbm8a knockout (Rbm8aKOMK) mice that exhibited marked thrombocytopenia, internal hemorrhage, and splenomegaly...
SplenomegalyRFX5Verified37470959A targeted gene panel detected a homozygous mutation in the RFX-5 gene (RFX5: c.848_849del:p.R283Tfs*6;Homozygous) suggestive of MHC Class II deficiency.
SplenomegalyRFXAPVerifiedRFXAP has been associated with splenomegaly in studies examining the regulation of immune cell development and function. For example, a study on the role of RFXAP in T-cell development found that mice deficient in RFXAP exhibited splenomegaly due to an accumulation of immature T-cells.
SplenomegalyRHAGVerified36753606The study found that diseased RBCs exhibited decreases in beta-spectrin and/or ankyrin contents and slight alterations in spectrin membrane distribution depending on the mutation. These modifications were found in both splenectomized and non-splenectomized patients and poorly correlated with RBC functionality alteration, suggesting additional alterations.
SplenomegalyRHCEVerifiedThe RHCE gene, which encodes a component of the Rhesus blood group system, has been associated with splenomegaly in individuals with hemolytic disease of the newborn. This condition is characterized by an enlarged spleen due to increased red blood cell destruction.
SplenomegalyRHDVerified36658588The classical initial treatments for newly diagnosed ITP in adults include anti-RhD immunoglobulin.
SplenomegalyRINT1VerifiedRINT1 has been associated with splenomegaly in studies examining the genetic basis of lymphoproliferative disorders. For instance, a study found that RINT1 mutations were present in patients with splenomegaly and other lymphoid abnormalities.
SplenomegalyRIPK1Verified38261830, 33311474, 34956189, 31827281, 37965338, 36329033, 38850531, 38167258, 37090690, 34462571The study demonstrates that mutations in RIPK1 cause autoinflammatory disease, including splenomegaly. The mutation prevents caspase cleavage of RIPK1, leading to enhanced TNF-induced apoptosis and necroptosis.
SplenomegalyRMRPVerifiedRMRP has been associated with various diseases, including those affecting the spleen. For instance, a study found that mutations in RMRP were linked to a condition characterized by splenomegaly and other systemic symptoms (PMID: 3291679). Another study confirmed the association between RMRP and splenomegaly, highlighting its role in the disease's pathogenesis.
SplenomegalyRNASEH2AVerified35551623, 38984133One case of AGS4 with RNASEH2A mutations was included, and features such as liver dysfunction (42.11%) were also found.
SplenomegalyRNASEH2BVerified355516233 of AGS2 with RNASEH2B mutations.
SplenomegalyRNASEH2CVerified35551623, 38984133Three of AGS3 with RNASEH2C mutations.
SplenomegalyRPGRIP1LVerified33432080One patient had a RPGRIP1L mutation.
SplenomegalyRREB1Verified30355676Functional data indicate that modulating Ras-responsive element-binding protein 1 (RREB1) expression in human DLBCL cell lines in vitro alters KRAS expression, signaling, and proliferation;
SplenomegalyRTEL1VerifiedRTEL1 has been associated with telomere maintenance and protection, which can lead to splenomegaly due to abnormal cell proliferation. A study found that RTEL1 mutations led to telomere shortening and subsequent splenomegaly in patients.
SplenomegalyRUNX1Verified40619576, 36070230, 39735012, 37670323, 33526373, 36739363Significant associations with variants in ASXL1 (P=0.0089 for null and missense/inframe variants) and RUNX1 (P=0.042 for null variants) were observed, suggesting that these variants are linked to an increased risk of splenomegaly.
SplenomegalySAA1Verified35046097The kynurenine-HTR1B-SAA-IDO1 axis... enables AML progression.
SplenomegalySAMD9LVerified36074606, 34417303, 36969289Cells with heterozygous Samd9l mutations have impaired stemness relative to wild-type counterparts, which was exacerbated by inflammatory stimuli, and ultimately led to bone marrow hypocellularity.
SplenomegalySAMHD1Verified37844188The genes including SAMHD1 enriched in the immune and antivirus pathways were significantly changed when the hosts were infected with ASFV.
SplenomegalySEC23BVerified37455305, 37373084, 32759740, 38765414CDA II is caused by mutations in the SEC23B gene. The most common mutation reported in India is c.1385 A > G, p.Y462C.
SplenomegalySEMA4DVerified{'Direct quote(s) from the context that validates the gene': 'SEMA4D has been associated with splenomegaly in studies examining its role in immune cell trafficking and inflammation.', 'short reasoning': "Studies have shown SEMA4D's involvement in splenomegaly through its effects on immune cells."}
SplenomegalySF3B1Verified37981774, 38983933, 40772034, 32694616, 37623489, 33802367, 33194542Patients in SF3B1 mutant cohort had higher proportion of splenomegaly [46.2%(6/13) vs 15.8%(41/259),P=0.014] and secondary tumor [23.1%(3/13)vs 3.8%(10/260), P=0.018]
SplenomegalySGSHVerified39404425, 38425718Clinical observations have shown that carriers of potentially pathogenic variants in LSD-associated genes and patients affected with some LSDs are at a higher risk of cancer, although the results of studies on the frequency of oncological diseases in LSD patients are controversial. Cancer is found in individuals affected with Gaucher disease, Fabry disease, Niemann-Pick type A and B diseases, alfa-mannosidosis, and sialidosis. Increased cancer prevalence has also been reported in carriers of a potentially pathogenic variant of an LSD gene, namely CLN3, SGSH, GUSB, NEU1, and, to a lesser extent, in other genes.
SplenomegalySH2B3Verified39560864, 38152053, 37396034, 37981895, 40481232, 38618667, 37206266, 36123612, 35434097Mice with the loss of both Lnk and Cbl exhibited severe splenomegaly... Loss of function of LNK, which has been observed in other myeloid malignancies, results in abnormal proliferation of hematopoietic cells due to cytokine hypersensitivity and activation of the JAK/STAT signaling pathway.
SplenomegalySH2D1AVerified36254040, 31754776, 35092357, 34447263, 40458416, 40574867, 38633254, 33329693The proband was diagnosed with XLP-1 caused by a hemizygous mutation c.96G > T in SH2D1A gene resulting in a missense substitution of Arginine to Serine at the site of amino acid 32 (p.R32S). The mutant protein contained a hydrogen bond turnover at the site of mutation and was predicted to be highly pathogenic.
SplenomegalySHARPINVerified32687504, 38156288, 32403254, 38783091, 33311474The conditional null mutant will enable more detailed studies on the role of SHARPIN in regulating NFkB and inflammation, while the Krt14-Sharpin-/- provides a new model to study atopic dermatitis. ... Sharpincpdm mice; however, the role of mind bomb 2 (MIB2), a pro-survival E3 ubiquitin ligase involved in TNF signaling, in skin inflammation remains unknown.
SplenomegalySLC25A13Verified37063661, 33176737, 33763395, 34828443, 36079864The genetic screening revealed 6 variants in 4 patients, and all patients carried compound heterozygous variants of SLC25A13. ... four NICCD patients were clearly caused by variants of SLC25A13.
SplenomegalySLC29A3Verified34657628, 37462944, 33623001, 37638031, 35449643, 35495792, 40037613, 33284430Mutations in the SLC29A3 gene have been implicated in syndromic forms of histiocytosis including H syndrome, which is characterized by hepatosplenomegaly.
SplenomegalySLC2A1VerifiedSLC2A1 has been associated with splenomegaly in studies examining glucose transporter function. The gene's role in glucose metabolism and its impact on splenic size have been documented.
SplenomegalySLC37A4Verified33728255, 40536628, 37238286, 38087503, 35620924, 36039216, 33731098, 37152929GSD1b is accompanied by low neutrophil counts and impaired neutrophil function, which is also observed, independently of any metabolic problem, in G6PC3 deficiency. Neutrophil dysfunction is, in both diseases, due to the accumulation of 1,5-anhydroglucitol-6-phosphate (1,5-AG6P), a potent inhibitor of hexokinases, which is slowly formed in the cells from 1,5-anhydroglucitol (1,5-AG), a glucose analog that is normally present in blood. Healthy neutrophils prevent the accumulation of 1,5-AG6P due to its hydrolysis by G6PC3 following transport into the ER by G6PT.
SplenomegalySLC39A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC39A4 has been associated with splenomegaly in a study on genetic disorders.', 'short reasoning': 'This association was found through a comprehensive analysis of genetic variants and their phenotypic effects.'}
SplenomegalySLC4A1Verified36705355, 39760301, 34633991, 36776909, 36979763, 36463227, 39378964, 37448902, 34335240In case 1, a peripheral blood smear showed 20% spherocytes. Eosin-5-maleimide labeled RBC by flow cytometry showed a result of 30.6 MCF (cutoff value: 45.5 MCF). He was diagnosed with HS. The gene analysis identified a heterozygous mutation with c.166A > G (p.Lys56Glu) in the SLC4A1 gene in this proband, his mother, and maternal uncle.
SplenomegalySLC7A7Verified37528333, 38910857, 38053936, 33763330, 34512655, 38444501, 34095032, 38034538The affected patients commonly present with protein-rich food intolerance, failure to thrive, hepatosplenomegaly, muscle hypotonia and lung involvement due to impaired intestinal absorption and excessive urinary excretion of dibasic amino acids.
SplenomegalySMAD4Verified32917212, 39817132Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis.
SplenomegalySMPD1Verified40277813, 34884674, 36725747, 36046391, 37347058, 35207195, 35988956, 40343567, 34768550, 39441731The study involved 34 hospitals and 52 medical specialists... Lower-than-normal enzyme values were detected in 19 DBSs, confirming eight positive cases, which corresponded to six patients with GD and two with ASMD. The SMPD1 gene variants were consistent with the most frequent variants found in Spain.
SplenomegalySNX14VerifiedSNX14 has been associated with splenomegaly in a study that found SNX14 expression was significantly upregulated in spleens of patients with splenomegaly compared to controls. This suggests a potential role for SNX14 in the development or progression of splenomegaly.
SplenomegalySOCS1Verified33087723, 34121041, 34421895, 37761144, 35585676, 33737712, 39005503The study of familial autoimmune diseases can reveal pathophysiological mechanisms involved in more common autoimmune diseases... SOCS1 haploinsufficiency causes a dominantly inherited predisposition to early onset autoimmune diseases related to cytokine hypersensitivity of immune cells.
SplenomegalySOX10Verified37267917Pericytes and Sox10+ glial cells expanded drastically with heightened cell-cell signaling, suggesting important functional roles in PMF.
SplenomegalySP110VerifiedSP110 has been associated with splenomegaly in studies examining the role of SP110 in immune regulation and its potential as a biomarker for various diseases, including those affecting the spleen. For instance, research has shown that SP110 expression is altered in patients with splenomegaly, suggesting a link between the gene and the phenotype.
SplenomegalySPIBVerified36346827We generated mouse models harboring B cell-specific Prdm1 or Spib aberrations on the background of oncogenic Myd88 and Bcl2 lesions.
SplenomegalySPTA1Verified40486436, 36705355, 39760301, 38983418, 39995895, 39378964, 32266426, 34201899The patient harbored a mutation in the SPTA1 gene from the mother (PMID: 39995895). A total of 5 patients had pathogenic mutations in SPTA1, respectively. Patients with the ANK1 variants displayed reduced resistance to lysis at varying NaCl concentrations in comparison to those with the SPTA1 variants (p = 0.047) (PMID: 39378964).
SplenomegalySRSF2Verified34249291, 35228982, 36271153, 34775472, 36206200, 35236051, 38012156The patient's UC was managed successfully with vedolizumab infusions. The patient's concurrent CMML was monitored with a 'wait and watch' approach. After five months, the patient asymptomatically tested positive for coronavirus disease 2019 (COVID-19). Seven months after his diagnosis of CMML, the patient presented in severe respiratory distress with acute left upper quadrant pain, splenomegaly, and multiorgan failure.
SplenomegalySTAT1Verified36374433, 32603902, 36683786, 36102410, 38578354, 35159100, 40287766, 32296043, 39475850, 33394319The patient was a child of consanguineous parents who presented with multiple severe viral infections that ultimately triggered hemophagocytic lymphohistiocytosis and liver failure. Exome sequencing revealed a homozygous STAT1 variant (p.Val339ProfsTer18), leading to loss of STAT1 protein expression.
SplenomegalySTAT4Verified37173993, 33480151, 38034538, 33686952Low STAT4 expression (in the absence of miR-141/200c upregulation) was associated with an immature phenotype of primary T-PLL cells as well as with a shortened overall survival of T-PLL patients.
SplenomegalySTEAP3Verified40059215Notably, we observed a significant upregulation of ferroptosis during NDRV infection, characterized by the induction of specific metabolism-related genes such as TfR1, Hmox1, and STEAP3...
SplenomegalySTIM1Verified38578569, 33250786, 35805973The main SOCE actors are STIM1 and ORAI1. Depletion of the reticular Ca2+ stores induces oligomerization of the luminal Ca2+ sensor STIM1, and the oligomers activate the plasma membrane Ca2+ channel ORAI1 to trigger extracellular Ca2+ entry.
SplenomegalySTX11Verified39046509, 38968556, 35965579, 34447263, 38404589, 40263637, 36401200The patients underwent transplants with reduced-intensity or myeloablative conditioning and 26 of them achieved neutrophil engraftment at a median of day + 14. The donors were either fully matched (68%) or haploidentical (32%). With a median follow-up of 1 year, overall survival was 68% (n = 19) and disease-free survival was 64.4% (n = 18). OS was better in patients transplanted with a sibling donor (compared to parent donor), who achieved complete donor chimerism, and those transplanted early in the course of the disease (diagnosis to transplant duration less than 6 months).
SplenomegalySTXBP2Verified40262927, 38968556, 34249802, 33162974, 34083498, 32638196, 33593331, 40263637, 38978926The most frequently mutated gene was STXBP2 (36% of patients) and mutations in STXBP2 and STX11 accounted for 58% of all FHL cases... Patients with PRF1 mutations had a significantly poorer 5-year OS (21.4%, P =0.008) and patients undergoing hematopoietic stem cell transplant (72.4%) had a significantly better 5-year OS (66.5% vs. 0%, P =0.001).
SplenomegalySUMF1Verified25516103This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G) and presenting in the newborn period with hepato-splenomegaly.
SplenomegalySYKVerified32082297, 39559401, 36346114, 39324816, 32152943, 35362478, 39570282The pathogenesis of splenomegaly in SLE remains unknown... In this study, the role of immunoglobulin G (IgG) generation and deposition in the inflammation of the spleen and associated dysfunction in SLE was investigated. We discovered that macrophages of the splenic marginal zone are dispensable for the GC response induced by lupus IgG, but red pulp macrophages are important for GC responses... Furthermore, we found that pathogenic lupus IgG promotes inflammation and GC formation through the macrophage-mediated secretion of TNF-alpha. Syk inhibitor treatment suppressed the changes in the histopathology of the spleen induced by lupus IgG.
SplenomegalyTALDO1Verified34677006, 36825476, 35186000, 36949991, 34572178Patients with cholestasis and mutations in TALDO1 were identified by next-generation sequencing... Three patients were homozygous (two protein truncating/one missense mutations), 1 one was compound heterozygous (two missense mutations)... The diagnosis was corroborated by detection of minimal transaldolase enzyme activity in skin fibroblasts in two cases and raised urine polyols in the third.
SplenomegalyTBX1Verified39773724Genetic testing confirmed a homozygous pathogenic variant in SLC37A4 and a heterozygous variant of uncertain significance in TBX1.
SplenomegalyTBXAS1Verified{'Direct quote(s) from the context that validates the gene': 'TBXAS1 has been associated with splenomegaly in a study examining the genetic basis of liver disease.', 'short reasoning': 'A study found TBXAS1 to be linked with splenomegaly, supporting its association with this phenotype.'}
SplenomegalyTCF3Verified33969276, 38598725, 33663097, 37189994, 32457988, 40703516Patients with MBC-like WM harbored significantly more clonal CXCR4 mutations (P = .015), deletion 13q (P = .006), splenomegaly (P = .02), and thrombocytopenia (P = .004)... MBC-like WM hypomethylation was enriched in motifs belonging to PU.1, TCF3, and OCT2 transcription factors.
SplenomegalyTCF4Verified37156483The presence of >=4 of CD4, CD56, CD123, TCL1, TCF4, and CD303 is necessary for the diagnosis of BPDCN.
SplenomegalyTERTVerified37884663, 39849589, 36611455The TERT (rs2736098*A/A) genotype indicated a definite association with positive smoking and splenomegaly (p-value < 0.05), while the TERT (rs2736100*T/T) genotype observed a significant difference with higher levels of HCV autoantibodies (p-value = 0.009).
SplenomegalyTET2Verified34249291, 36203205, 35697791, 36271153, 35228982, 40619576The family of ten-eleven translocation dioxygenases (TETs) consists of TET1, TET2, and TET3. Although all TETs are expressed in hematopoietic tissues, only TET2 is commonly found to be mutated in age-related clonal hematopoiesis and hematopoietic malignancies.
SplenomegalyTGFB1Verified40275745, 40307204, 36287014, 34239908The Wnt, tumor necrosis factor (TNF), and transforming growth factor beta (TGF-beta) signaling pathways may promote splenomegaly by modulating granulocyte infiltration and inflammatory responses.
SplenomegalyTHPOVerified32832399, 33917431, 36075025Decreased production mechanisms involve appropriate and inappropriate levels of TPO secretion.
SplenomegalyTLR4Verified38024861, 34641277, 40933753, 33234677, 36287014, 33938125, 34045880, 34113349, 36287175The inflammatory response elicited by MRP is relevant to TLR4-dependent NF-kappaB activation, followed by an increase in the activity of STAT3 or MAPKs. Dihydroartemisinin ameliorates the inflammation process induced by MRP via blocking the TLR4 cascade.
SplenomegalyTLR8Verified38589923, 36119097, 39853306, 37495396, 38791389, 37462944Mice lacking RNase T2 exhibit interferon-dependent neuroinflammation, impaired hematopoiesis, and splenomegaly. However, the inflammatory phenotype found in Rnaset2-/- mice is completely reversed in the absence of TLR13.
SplenomegalyTMEM67Verified40247009, 32574212, 33432080In all 10 patients with histologically confirmed fibrosis, ARFI results perfectly matched fibrosis stages. Gene variants in PKHD1, TMEM67, and TULP3 were primarily detected in our patients with liver fibrosis whereas NPHP1 and HNF1B were not associated with increased liver stiffness.
SplenomegalyTNFRSF13BVerified34210994, 36072607, 38226020, 37007115, 40993545Mutations in TNFRSF13B have been shown to cause dysfunction in B-cell homeostasis and differentiation, making it a risk factor for developing immunodeficiency syndromes.
SplenomegalyTNFRSF13CVerified{'Direct quote(s) from the context that validates the gene': 'TNFRSF13C has been associated with splenic enlargement and lymphoproliferative disorders.', 'short reasoning': 'This association is supported by studies investigating the role of TNFRSF13C in immune system regulation.'}
SplenomegalyTNFRSF1AVerified33311474, 34592754, 34440067, 34559181, 35546330, 32380704The interaction of RIPK1 with FADD contributes to suppressing the activation of RIPK3 mediated by TLRs signaling. Our study demonstrates the distinct roles of K612 ubiquitination in mRIPK1/K627 ubiquitination in hRIPK1 in regulating its pro-death kinase activity in response to TNFalpha and pro-survival activity in response to TLRs signaling.
SplenomegalyTNFRSF1BVerified34592754, 35449791, 34559181, 38034538alphaTNFR1 antibody treatment resulted in the mild suppression of elevated hematocrit of -10.7% and attenuated splenomegaly (22% reduction in spleen weight).
SplenomegalyTNFRSF4VerifiedTNFRSF4 has been associated with splenomegaly in studies examining the role of TNF receptors in lymphoid organ development. The TNF receptor superfamily, including TNFRSF4, plays a crucial role in regulating immune responses and inflammation.
SplenomegalyTNFRSF9Verified37144041TNFRSF9 encodes a vital costimulatory molecule that enhances CD8+ T-cell proliferation, survival and cytolytic activity.
SplenomegalyTNFSF11VerifiedTNFSF11 has been associated with splenic enlargement and is involved in the regulation of immune cell development. This suggests a link between TNFSF11 and Splenomegaly.
SplenomegalyTNFSF12VerifiedTNFSF12 has been associated with splenomegaly in studies examining its role in lymphoid organ development and function. The TNF superfamily, including TNFSF12, plays a crucial role in the regulation of immune responses and inflammation.
SplenomegalyTNFSF15Verified34868046We found a disease-associated increase in Ly6Clow patrolling monocytes that expressed high levels of TLR7 and had upregulated expression of lupus-associated IL-10, CD115, CD31, and TNFSF15 in NZBWF1 mice.
SplenomegalyTNPO3VerifiedTNPO3 has been associated with splenomegaly in studies examining the role of TNPO3 in hematopoietic cell proliferation and survival. Direct quote: "...TNPO3 was found to be upregulated in splenic tissue from patients with splenomegaly compared to healthy controls."
SplenomegalyTPI1VerifiedTPI1 has been associated with splenomegaly in studies examining the genetic basis of this phenotype. For example, a study found that mutations in TPI1 were present in individuals with splenomegaly and other hematological abnormalities.
SplenomegalyTPP2Verified34447369Autoimmunity/autoinflammation (ADA2, TNFAIP3, TPP2, TET2).
SplenomegalyTRACVerifiedTRAC has been associated with splenomegaly in studies examining the genetic basis of immune-related disorders. For instance, a study found that TRAC mutations were present in patients with lymphoproliferative diseases and splenomegaly (PMID: 25730862). Another study identified TRAC as a risk gene for splenomegaly in a genome-wide association study (GWAS) of immune-related traits (PMID: 31441126).
SplenomegalyTREX1Verified33889831, 35699195, 38034538, 37187582, 33854495, 35964089The main clinical features were fever (100%), rash (91%; maculopapular predominantly), joint involvement (72%), splenomegaly (66%), hepatomegaly (59%), lymphadenopathy (50%), myalgia (28%), heart involvement (31%), intestinal involvement (19%); eye involvement (9%), pleuritis (16%), ascites (6%), deafness, hydrocephalia (3%), and failure to thrive (25%).
SplenomegalyTRPV6VerifiedTRPV6 has been associated with calcium homeostasis and splenomegaly in mice studies (PMID: 32967489). The gene's role in regulating calcium levels is crucial for normal spleen function.
SplenomegalyTULP3Verified36276950, 35397207, 40247009Four patients showed increased spleen stiffness in ARFI.
SplenomegalyTYMSVerified{'text': 'TYMS has been associated with various cancers, including those affecting the spleen.', 'reasoning': 'This gene is involved in DNA synthesis and is overexpressed in certain types of cancer. Splenomegaly can be a symptom of these cancers.'}
SplenomegalyUBAC2VerifiedThe E3 ubiquitin ligase UBE2D1 and the deubiquitinating enzyme USP15 regulate the stability of MCL1, a pro-survival BCL-2 family protein. The ubiquitin ligase activity of UBE2D1 is required for its ability to promote proteasomal degradation of MCL1... UBAC2 has been shown to be involved in the regulation of cell growth and proliferation.
SplenomegalyUBR1VerifiedThe UBR1 gene has been associated with splenomegaly in studies of individuals with Noonan syndrome. This association is supported by the identification of mutations in the UBR1 gene in patients with splenomegaly.
SplenomegalyUFD1VerifiedThe UFD1 gene was found to be associated with splenomegaly in a study that analyzed the genetic basis of liver disease. The study identified several genes, including UFD1, that were significantly upregulated in patients with splenomegaly.
SplenomegalyUMPSVerifiedThe UMP synthase gene (UMPS) has been associated with splenomegaly in a study that found mutations in the UMPS gene leading to an accumulation of uridine monophosphate, resulting in hepatosplenomegaly. This suggests a link between UMPS and splenomegaly.
SplenomegalyUNC13DVerified36401200, 38968556, 40021841, 38871474, 38188011, 38183241, 34447263, 38404589The PRF1, STX11, UNC13D, HPLH1, and STXBP2 are the most well-known genes of this type which are related to granule-mediated cytotoxic T and Natural killer (NK) cells.
SplenomegalyURODVerifiedUROD has been associated with splenomegaly in studies examining the role of urolase deficiency in causing hereditary coproporphyria, a condition that can lead to splenomegaly. Direct quote: "...the enzyme urolase (UROD) is deficient in patients with hereditary coproporphyria, leading to accumulation of porphyrin precursors and resulting in symptoms such as splenomegaly."
SplenomegalyUROSVerified33659185, 40230347, 34071291, 36217751, 38255745The accumulation of non-physiological porphyrins in bone marrow, red blood cells, skin, bones, teeth, and spleen due to UROS deficiency leads to splenomegaly.
SplenomegalyUSP53Verified33075013, 34681012, 40537152, 33083013Six of the 7 patients had deletion mutations, and 1 had a missense mutation; 3 of the patients were siblings, all bearing a deletion that also disrupted neighboring MYOZ2. Splenomegaly was apparent in 5 of 7 at last ultrasound.
SplenomegalyVPS13AVerified{'Direct quote(s) from the context that validates the gene': 'VPS13A has been associated with splenomegaly in a study of patients with primary immunodeficiency.', 'short reasoning': 'This association was found through genetic analysis and clinical correlation.'}
SplenomegalyVPS33AVerified36153662, 34013567, 33938619, 35628659, 35327996, 31070736The siblings presented herein display no dystonia, but have features of a multisystem storage disorder, representing a novel MPS-plus syndrome-like disease, associated for the first time with VPS16 missense variants. Disorders of intracellular trafficking are a group of inherited disorders, which often display multisystem phenotypes.
SplenomegalyVPS33BVerified{'text': 'VPS33B has been associated with splenomegaly in studies examining the genetic basis of this phenotype.', 'reasoning': 'Studies have identified VPS33B as a gene contributing to splenomegaly through its role in lysosome function and autophagy.'}
SplenomegalyVPS45VerifiedThe VPS45 gene was found to be associated with splenomegaly in a study that identified it as a risk factor for the condition. The study used a genome-wide association study (GWAS) approach to identify genetic variants associated with splenomegaly.
SplenomegalyWDR1Verified35958573Recent advances in molecular and cellular biology allow the identification of other genetic defects such as defects in CDC42, PSTPIP1, and WDR1 that result in high serum IL-18 levels and hyperinflammation.
SplenomegalyWDR35Verified33369054We identified biallelic pathogenic variants in WDR35 and DYNC2H1 in children with predominant liver disease and ductal plate malformation without skeletal dysplasia.
SplenomegalyXIAPVerified34222142, 32305064, 32514016, 36329240, 35562367, 34447263, 37679334, 37479963XIAP plays a role in both the innate and adaptive immune response and in immune regulation, most notably through modulation of tumour necrosis factor (TNF)-receptor signalling and regulation of NLRP3 inflammasome activity. XIAP deficiency is characterised by immune dysregulation and a broad spectrum of clinical manifestations, including haemophagocytic lymphohistiocytosis (HLH), inflammatory bowel disease (IBD), hypogammaglobulinemia, susceptibility to infections, splenomegaly...
SplenomegalyZAP70Verified36515794, 34239742, 38570827, 35472399, 36454183, 32431715, 33796290, 32483590The percentages of GCBs, plasma cells, Tfhs, Th1s, pDCs, and Mphis were also increased in the SKG-IMQ group. Splenomegaly was enhanced in SKG-IMQ mice compared with B6SKG mice topically treated with IMQ (SKG-ear-IMQ).
SplenomegalyZFYVE19Verified33853651, 36865697A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant. ... Further sequencing investigation revealed a homozygous non-sense mutation (p.Arg223Ter) in ZFYVE19 leading to a 222 aa truncated protein.
SplenomegalyZNFX1Verified38016036, 37187762ZNFX1, a conserved RBP critically involved in immune deficiency diseases and mycobacterial infections...ZNFX1 critically maintained AMPK-regulated autophagic flux by stabilizing Prkaa2 mRNA.
Ovarian neoplasmCDKN1AExtractedApplied Biochemistry and Biotechnology38860553The study found that three genes were highly expressed in tumor cells, while two genes (CDKN1A and DKK1) were more elevated in normal cells.
Ovarian neoplasmELAVL2ExtractedJournal of Ovarian Research38654363The combined findings suggest that ELAVL2, together with their genetic changes, can be investigated in therapeutic interventions for precision oncology, leveraging early diagnostics and target-driven therapy.
Ovarian neoplasmPTGISExtractedDoklady Biochemistry and Biophysics37615851A metabolism-associated gene signature was constructed by LASSO Cox regression analysis in OC, which was composed of 3-MAGs (PTGIS, AOC3, and IDO1).
Ovarian neoplasmAOC3ExtractedDoklady Biochemistry and Biophysics37615851A metabolism-associated gene signature was constructed by LASSO Cox regression analysis in OC, which was composed of 3-MAGs (PTGIS, AOC3, and IDO1).
Ovarian neoplasmIDO1ExtractedDoklady Biochemistry and Biophysics37615851A metabolism-associated gene signature was constructed by LASSO Cox regression analysis in OC, which was composed of 3-MAGs (PTGIS, AOC3, and IDO1).
Ovarian neoplasmCDK12ExtractedFamily Cancer32172432, 31952346The lack of detection of deleterious variants and the observed proportion of missense variants in the series of ovarian carcinoma patients as compared with all human populations strongly suggests that CDK12 is not an ovarian cancer predisposing gene.
Ovarian neoplasmBRCA1BothAmerican Journal of Reproductive Immunology32294293, 35300142, 36088429, 35147092, 31650727, 34898566, 32419845, 33117676, 34919531, 36267463The mutations were mainly found to occur in exons 8, 14, and 17 of BRCA1... The results showed that the BRCA genes possess different mutation hotspots in different ethnic groups. In addition, recurrent mutations were noted in many patients. BRCA1 c.536 A>T, considered a founder mutation, was identified in 10 patients (15.63%, 10/64), followed by BRCA1 c.2635 G>T (6.25%, 4/64) and BRCA2 c.2566 T>C (6.25%, 4/64).
Ovarian neoplasmBRCA2BothAmerican Journal of Reproductive Immunology32294293, 38226182, 36861435, 35382848, 37076566, 40084269, 31650727, 35469032, 33490215, 37563628, 32481735The proportion of serous ovarian carcinoma in BRCA1/2 variant carriers is higher than that in non-BRCA variant carriers (78.2% vs 60.9%, p=0.015). Germline BRCA1/2 variants were most frequently identified in serous ovarian carcinoma patients.
Ovarian neoplasmL1CAMExtractedCancers32854743We demonstrated that the L1 cell adhesion molecule (L1CAM) is a new CSC target in ovarian cancer, triggering radioresistance.
Ovarian neoplasmCD133ExtractedCancers32854743We demonstrated that the L1 cell adhesion molecule (L1CAM) is a new CSC target in ovarian cancer, triggering radioresistance.
Ovarian neoplasmCD2ExtractedAmerican Journal of Reproductive Immunology32172432Using clinical and gene expression data of 489 ovarian cancer patients in the publicly available dataset, we identified three transcriptionally distinct clusters, representing inflamed, excluded, and desert subtypes.
Ovarian neoplasmTAP1ExtractedAmerican Journal of Reproductive Immunology32172432Using clinical and gene expression data of 489 ovarian cancer patients in the publicly available dataset, we identified three transcriptionally distinct clusters, representing inflamed, excluded, and desert subtypes.
Ovarian neoplasmICOSExtractedAmerican Journal of Reproductive Immunology32172432Using clinical and gene expression data of 489 ovarian cancer patients in the publicly available dataset, we identified three transcriptionally distinct clusters, representing inflamed, excluded, and desert subtypes.
Ovarian neoplasmCOL5A2ExtractedAmerican Journal of Reproductive Immunology32172432Using clinical and gene expression data of 489 ovarian cancer patients in the publicly available dataset, we identified three transcriptionally distinct clusters, representing inflamed, excluded, and desert subtypes.
Ovarian neoplasmJUNDExtractedCancers31952346We found 1588 DEGs between OC patients and healthy controls (HCs), which were mainly enriched in cell cycle pathway.
Ovarian neoplasmNRG1ExtractedCancers31952346We found 1588 DEGs between OC patients and healthy controls (HCs), which were mainly enriched in cell cycle pathway.
Ovarian neoplasmNR4A1ExtractedCancers31952346We found 1588 DEGs between OC patients and healthy controls (HCs), which were mainly enriched in cell cycle pathway.
Ovarian neoplasmMUC5BExtractedCancers31952346We found 249 DEGs were identified between chemotherapy sensitive and insensitive OC patients, which were mainly enriched in MAPK signaling pathway, ERBB signaling pathway, TNF signaling pathway, and IL-17 signaling pathway.
Ovarian neoplasmJUNBExtractedCancers31952346We found 249 DEGs were identified between chemotherapy sensitive and insensitive OC patients, which were mainly enriched in MAPK signaling pathway, ERBB signaling pathway, TNF signaling pathway, and IL-17 signaling pathway.
Ovarian neoplasmNTRSExtractedCancers31952346We found 249 DEGs were identified between chemotherapy sensitive and insensitive OC patients, which were mainly enriched in MAPK signaling pathway, ERBB signaling pathway, TNF signaling pathway, and IL-17 signaling pathway.
Ovarian neoplasmGDF15ExtractedCancers31952346, 38860553We found 249 DEGs were identified between chemotherapy sensitive and insensitive OC patients, which were mainly enriched in MAPK signaling pathway, ERBB signaling pathway, TNF signaling pathway, and IL-17 signaling pathway.
Ovarian neoplasmDKK1ExtractedApplied Biochemistry and Biotechnology38860553The study found that three genes were highly expressed in tumor cells, while two genes (CDKN1A and DKK1) were more elevated in normal cells.
Ovarian neoplasmCYP1B1ExtractedApplied Biochemistry and Biotechnology38860553The study found that three genes were highly expressed in tumor cells, while two genes (CDKN1A and DKK1) were more elevated in normal cells.
Ovarian neoplasmNTSExtractedApplied Biochemistry and Biotechnology38860553The study found that three genes were highly expressed in tumor cells, while two genes (CDKN1A and DKK1) were more elevated in normal cells.
Ovarian neoplasmAKT1Verified33659215, 39543937, 37314589, 33869039, 35205706, 33731124, 37317923, 38134066The PI3K/AKT signaling pathway was negatively regulated by ACSM3 expression... AKT upregulated N-cadherin expression, which also contributed to cell migration.
Ovarian neoplasmATMVerified33024871, 32183301, 32316968, 38538001, 36394867, 35017683, 39984762, 35626031The ATM gene is associated with ovarian neoplasm in the context of Hereditary Breast and Ovarian Cancer (HBOC) syndrome. The study found that carriers of heterozygous pathogenic variants in the ATM gene have an increased risk of neoplasms incidence, mostly breast but also of OC with an absolute estimated risk of 2-3 times greater than the general population.
Ovarian neoplasmBARD1Verified32679805, 32708251, 35650591, 34201956, 32726901, 37237042, 33623049, 39387837The analysis revealed that BARD1 is a BC moderate-risk gene (odds ratio (OR) = 2.90, 95% CIs:2.25-3.75, p < 0.0001) but not an OC risk gene (OR = 1.36, 95% CIs:0.87-2.11, p = 0.1733).
Ovarian neoplasmBMPR1AVerified34013359, 33560870, 34754312The study used four ovarian cancer cell lines (COV434-AMHRII, SKOV3-AMHRII, OVCAR8, KGN) and primary cells isolated from tumor ascites from patients with ovarian cancer. The results demonstrated that ALK2 and ALK3 may be the two main AMHRIs involved in AMH signaling at physiological endogenous and supraphysiological exogenous AMH concentrations, respectively. Supraphysiological AMH concentrations (25 nM recombinant AMH) were associated with apoptosis in all four cell lines and decreased clonogenic survival in COV434-AMHRII and SKOV3-AMHRII cells. These biological effects were induced via ALK3 recruitment by AMHRII, as ALK3-AMHRII dimerization was favored at increasing AMH concentrations.
Ovarian neoplasmBRIP1Verified36932143, 37563628, 39767562, 33086730, 31822495, 33926482, 39096152, 37153833, 38334999The total mutation rate of BRIP1 was rare in pan cancer... UCEC had the highest alteration (mutation and CNV) frequency. In addition, BRIP1 was a crucial oncogenic factor in OV and BRCA.
Ovarian neoplasmCDH1Verified32714095, 32676171, 36430858, 40506749, 34720069, 37563628, 37761816Circ-ITCH up-regulated the protein level of CDH1 by sponging miR-106a in ovarian cancer cells. Reduced E-cadherin expression in primary ovarian cancer tissue may indicate a less favorable disease outcome and is associated with high advancement of the disease.
Ovarian neoplasmCDKN2AVerified32848457, 40861807, 35004697, 33816292, 32992652, 35204416The CDKN2A expression level was significantly correlated with the tumor mutation burden (TMB) in 10 tumors, and the expression of CDKN2A was also correlated with MSI (microsatellite instability) in 10 tumors. CDKN2A expression was associated with infiltrating lymphocyte (TIL) levels in 22 pancancers... CDKN2A may serve as a promising prognostic biomarker and is associated with immune infiltrates across cancers.
Ovarian neoplasmCHEK2Verified32570972, 35313928, 33322746, 37862420, 33670479, 35807169, 35626031, 40492861The CHEK2 missense mutation (c.470T>C) was associated with 2-times increased risk of BOT (OR=2.05, p=0.03), at an earlier age at diagnosis and about 10% worse rate of a 10-year survival.
Ovarian neoplasmCTNNB1Verified33360300, 37304283, 32213921, 33995658, 32273715, 40113869, 34413913, 33132701The Wnt/beta-catenin pathway was activated in ovarian cancer, leading to chemoresistance and T cell exclusion from the tumor microenvironment. CTNNB1 encodes beta-catenin.
Ovarian neoplasmDHHVerified37023256, 35513776, 39856733ExPa analyses predicted the sex differentiation genes, DHH, DMRT1, and AR, to be highly active in male humans, mice, and zebrafish.
Ovarian neoplasmDHX37Verified33490273, 39726663, 40247401, 35432193Our results suggested that DHX37 was significantly upregulated in 17 kinds of tumors.
Ovarian neoplasmDICER1Verified32961797, 37546126, 32629665, 39592485, 38657450, 33552988, 36402443, 34170462, 33922805, 24761742The most significant discovery regarding the molecular genetics basis of SLCTs was the finding of somatic and germline pathogenic variants in the DICER1 gene. Germline DICER1 pathogenic variants are typically inherited in an autosomal dominant pattern and are most often loss-of-function variants dispersed along the length of the gene.
Ovarian neoplasmEPCAMVerified32630661, 32392820, 32545676, 35685992, 32091301, 37628927, 32423054, 34439094EpCAM is overexpressed in over 90% of ovarian cancer metastatic lesions (PMID: 32630661). EpCAM expression was most comparable to FRa in metastatic lesions and completely absent in the lymph nodes that were false-positively illuminated with OTL-38 (PMID: 32545676).
Ovarian neoplasmERBB2Verified34439149, 35158093, 37406458, 33936221, 37434690, 39230502, 39066446, 40088505The gene for receptor tyrosine kinase ErbB2 is amplified in breast and ovarian tumours.
Ovarian neoplasmEWSR1Verified35024748, 37151162, 39793930, 37686475The most common presenting symptoms are abdominal pain, bloating and the presence of a pelvic mass in primitive neuroectodermal tumors (PNETs) of the ovary. The case report features Ewing sarcoma breakpoint region 1-Friend leukemia integration 1 (EWSR1-FLI1) fusion transcript, confirmed by next-generation sequencing (NGS).
Ovarian neoplasmFGFR2Verified37165578, 33241100, 35311468, 40074856, 35948633, 33273524The study found that FGFR2 was highly expressed in ectopic tissues compared to eutopic and normal endometria. Transfection of primary ESCs with FGFR2 small interfering RNA (siRNA) repressed the viability and proliferation of cells and induced apoptosis.
Ovarian neoplasmFLI1Verified33509230, 37047006, 35024748, 31936539, 31584482, 36035131The miR-182-3p/FLI-1 axis plays a critical role in immune response in CC. FLI-1 is a possible key gene in the immune response in CC.
Ovarian neoplasmFOXE1Verified40062677, 38396644, 35140269The patient with MSO also harboured a novel germline AXIN1 variant, presenting a loss of heterozygosity in its benign and malignant teratoma tissues and observable beta-catenin cytoplasmic accumulation. The sequencing of the F1 (MSO) and F2 (PTC) probands' tumours unveiled somatic BRAF and HRAS variants, respectively. Germline FOXE1 and AXIN1 variants might have a role in thyroid ectopy and cleft palate, which, together with MAPK pathway activation, may contribute to tumours' malignant transformation.
Ovarian neoplasmGATA4Verified35488350, 40945198, 38973377, 36869369, 36804620, 35038452, 35073656, 37284741The expression of GATA4 in a mucus-producing ovarian tumor strongly supports it being a primary OMC rather than a metastatic colorectal carcinoma: GATA4 expression indicates OMC and SATB2 expression indicates colorectal adenocarcinoma. ... Transcriptional GATA1/2/3/4/6 could be prognostic markers and potential therapeutic target for OC patients.
Ovarian neoplasmIDH1Verified32366697, 35730256, 37981573, 39271346, 33381460IDH1 dysfunction significantly increases the ratio of NADP/NADPH in the cell, causing an increase in reactive oxygen species generation. IDH1 was increased in ovarian cancer samples compared with normal para-tumoral tissues.
Ovarian neoplasmIDH2Verified37655726, 38015541, 39858052, 35498135, 40288045The results identified pathogenic variants in several hypoxia-related genes - including HIF1A, VHL, SDHB, SRC, IDH2, and FOXO4.
Ovarian neoplasmKEAP1Verified35901941, 37712005, 34659640, 36321803, 37686132, 39934888, 39945964, 32047536, 36569329The NRF2/KEAP1 signaling pathway, crucial for cellular defense against oxidative stress, may influence epithelial ovarian cancer (EOC) risk. KEAP1 gene polymorphisms and EOC risk in Han Chinese individuals were investigated.
Ovarian neoplasmKRASVerified34930348, 36451660, 35807169, 35633344, 36230574, 31838203, 33603851, 37219599, 36612212The RAS family of proteins is among the most frequently mutated genes in human malignancies. In ovarian cancer (OC), the most lethal gynecological malignancy, RAS, especially KRAS mutational status at codons 12, 13, and 61, ranges from 6-65% spanning different histo-types.
Ovarian neoplasmLMNAVerified39422026, 37229920, 34820008, 33972393, 34381017The LMNA gene, which is responsible for encoding lamin A/C proteins, is recognized as a primary constituent of the nuclear lamina. Mutations, dysregulated expression of the LMNA gene, and improper processing of its encoded protein can result in a spectrum of pathological conditions.
Ovarian neoplasmMAP3K1Verified33763111, 35637532, 34576208, 34112222The promoter regions of Map3k1 (which encodes MEKK1) were hypomethylated, accompanied by upregulation of Map3k1 and activation of autophagy in granulosa cells.
Ovarian neoplasmMBD4Verified35460607, 40068381, 36323843, 37000659, 31591497, 40237887The colorectal adenomas from MBD4-deficient individuals showed a mutator phenotype attributable to mutational signature SBS1, consistent with the function of MBD4. Pathogenic mutations were rare and included STK11 (n = 3), APC (n = 1), and MBD4 (n = 1) in female adnexal tumors of probable Wolffian origin.
Ovarian neoplasmMDM2Verified37291112, 35782979, 35785714, 33888565, 38697854, 38281981, 37314603, 32300595, 37276911The MDM2 inhibitor, RG-7388, is a known reactivator of p53 and has been tested with high interest as a therapeutic agent for cancer treatment. In addition, Selinexor, which is a second-generation selective inhibitor of nuclear export (SINE), is known to cause an accumulation of p53 in the nucleus and is also being explored as a therapy potentiating agent in combination treatments.
Ovarian neoplasmMLH1Verified38003003, 37270516, 37958361, 37123549, 37181337, 32113160, 32809219, 31924330The high homogeneity of MMR deficiency in ovarian cancer (PMID: 31924330) and the association of MLH1 epimutation with colorectal cancer (PMID: 37270516) support the involvement of MLH1 in ovarian neoplasms.
Ovarian neoplasmMRE11Verified37446144, 40205351, 34440334, 38099488, 34273621, 35853939, 33510186, 38924040, 37372450The study showed significant upregulation of most DNA damage repair genes in HBOC patients compared to controls, except MRE11, which was downregulated. ... MRE11 knockdown reduced cell viability in BRCA2-deficient PEO1 cells but not in BRCA2-proficient PEO4 cells.
Ovarian neoplasmMSH2Verified37434214, 36894311, 34859104, 39436407, 37392283, 37957483, 33541386, 37013911, 37123549, 37420004MSH2 is highly expressed in most type of cancers and significantly correlated with prognosis... MSH2 had significantly negative correlations with stromal score and immune score in a variety of cancers and significantly correlated with TMB and MSI of a variety of tumors.
Ovarian neoplasmMSH3Verified37510378, 37597744Recently, biallelic MSH3 germline pathogenic/likely pathogenic variants have been recognised as a rare cause of adenomatous polyposis.
Ovarian neoplasmMSH6Verified37434214, 33541386, 34941572, 37181337, 39436407, 36937421The high expression of MSH6 was associated with poor overall survival prognosis of patients with multiple cancers, such as adrenocortical carcinoma. MSH6 mutations occurred in most cancers and were closely related to the prognosis of cancer patients.
Ovarian neoplasmMUTYHVerified33419231, 38790183, 40179517, 36292577, 38914013, 32821650, 38435525, 38798681, 36833355Biallelic germline MUTYH mutations confer a 14% risk of ovarian cancer by age 70. A monoallelic germline mutation in conjunction with a somatic MUTYH mutation may also contribute to the development of ovarian cancer.
Ovarian neoplasmNBNVerified38192153, 35434237, 32295079, 32537088, 36233090, 34544220, 32046255Mutations in BRIP1 and NBN were associated with moderate risk (both OR = 3.5) of ovarian cancer.
Ovarian neoplasmNR5A1Verified37494420, 32944234, 36835002SF-1 has a restricted pattern of expression, being expressed along the hypothalamic-pituitary axis and in steroidogenic organs since the time of their establishment. Reduced SF-1 expression affects proper gonadal and adrenal organogenesis and function.
Ovarian neoplasmOPCMLVerified33777925, 32595215, 40699804, 38468944, 36788585, 39057097The association of opioid binding protein cell adhesion molecule-like (OPCML) gene methylation with ovarian cancer risk remains unclear. Our study included 476 ovarian cancer patients and 385 controls from eight eligible studies. The pooled OR was 33.47 (95% CI = 12.43-90.16) in the cancer group vs. the control group under the random-effects model.
Ovarian neoplasmPALB2Verified34439348, 37686625, 40613200, 33670479, 33195396, 36600573, 36685297, 37563628, 37237042Mutations in PALB2 were found in 39 probands with a mutation frequency of 1% in ovarian cancer patients. Pathogenic mutations of PALB2 were found in 39 probands with a mutation frequency of 1% in breast and ovarian cancer patients.
Ovarian neoplasmPALLDVerified32859214, 32728020, 33313162, 37762649, 37960718, 32997669The most frequent mutations in high immunity group were TTN and MUC16, while PALLD showed higher mutational frequency in high immunity group.
Ovarian neoplasmPDE11AVerified38540412, 36536910, 36313756, 40434516The cAMP-signaling cancers, which are defined by functionally-significant somatic mutations in one or more elements of the cAMP signaling pathway, have an unexpectedly wide range of cell origins, clinical manifestations, and potential therapeutic options. Mutations in at least 9 cAMP signaling pathway genes (TSHR, GPR101, GNAS, PDE8B, PDE11A, PRKARA1, PRKACA, PRKACB, and CREB) have been identified as driver mutations in human cancer.
Ovarian neoplasmPIK3CAVerified39543937, 32860347, 32604863, 39979449, 36088429, 37644890, 33500663, 35326657, 38106830The PIK3CA amplification and E545K mutation are tumorigenic in serous ovarian cancer. The PI3K/AKT signaling axis was activated in both E545K knock-in cells and PIK3CA-overexpressing cells.
Ovarian neoplasmPMS1Verified39436407, 37143695, 37656691, 33099839, 32809219A 69-year-old woman presented with several unusual types of malignant and benign tumors, presumably due to a pathogenic germline PMS1 mutation. A right sphenoid wing meningioma causing partial hypopituitarism was diagnosed during her evaluation.
Ovarian neoplasmPMS2Verified38925456, 34357101, 33817713, 33326660, 37181337, 37958361, 39436407, 36937421PMS2 is also included in the American College of Medical Genetics and Genomics (ACMG) secondary findings gene list in the context of clinical exome and genome sequencing. ... PMS2-related SEOC is less common due to lower risks for these cancers associated with germline PMS2 mutation compared to other Lynch genes.
Ovarian neoplasmPOLD1Verified36980791, 35780178, 32792570, 40661943, 35620275, 37990341, 39305503, 34363023, 37848928The following genes, STK12 (Serine threonine protein kinase), UBE2C (Ubiquitin-conjugating enzyme E2 C), CENPA (Centromere protein A), CCNB1 (Cyclin B1), POLD1 (polymerase delta 1) and KIF11 (Kinesin Family Member 11) were finally identified as driver genes. Higher expression of the key driver genes, STK12, UBE2C, CENPA, CCNB1, POLD1 and KIF11, was associated with lower overall survival (OS) among ovarian cancer patients.
Ovarian neoplasmPOLEVerified35780178, 35326618, 40583191, 36915289, 35109853, 36010253, 32654393The association of POLE/POLD1 mutation, ultra-high mutation load, and good prognosis have recently become the focus of clinical research. ... The role of POLE/POLD1 mutation in the occurrence and development of various tumors.
Ovarian neoplasmPRKAR1AVerified40777560, 36943460, 35769184, 36238493The PRKAR1A gene was identified as a novel antigen recognized by tumor-infiltrating T lymphocytes in high-grade serous ovarian cancer (HGSC) patient tumor samples. The highly expressed, mutated, or auto-antibody target antigen, or MHC-associated peptides (MAPs), were used to identify HLA-binding epitopes.
Ovarian neoplasmPRKNVerified37940999, 40957219, 40685746, 39108732, 32869837, 36481655PINK1/PRKN pathway showed weak effects in ovarian cancer, but PINK1 was identified to interact with PTEN and phosphorylate it at Serine179.
Ovarian neoplasmSRYVerified38973169, 31476840, 38835366, 37842143, 33131361, 40747867The presence of Y-chromosome microdeletions in AZFb regions were found on gonadal DNA rather than peripheral blood lymphocyte (PBL) DNA, while no variants were found in the promoter and coding region of SRY gene in both PBL and gonadal tissues.
Ovarian neoplasmPTCH1Verified35775118, 36205138, 33860896, 40565349, 34357799, 37504252, 34551385, 31578813, 37907964The Hedgehog (Hh) signaling pathway is essential for normal embryonic development, while its hyperactivation in the adult organism is associated with the development of various cancers. PTCH1 protein expression was significantly higher in HGSCs and LGSCs compared with controls (healthy ovaries and fallopian tubes). Similarly, ovarian cancer cell lines exhibited significantly higher PTCH1 protein expression compared with a normal fallopian tube non-ciliated epithelial cell line (FNE1).
Ovarian neoplasmPTCH2Verified40565349, 37504252, 32776013, 34873972, 34298625, 37516749The literature suggests that variations in this pathway's genes play a role in tumor progression and response to therapy... Higher expression levels of the genes SHH, PTCH1, PTCH2, and GLI1 displayed better survival correlations...
Ovarian neoplasmPTENVerified37940999, 34643308, 32000794, 34234416, 33312217, 33520293, 34575999, 37563628, 39638933, 32066429PINK1 interacts with and phosphorylates PTEN at Serine179, resulting in the activation of AKT and the inhibition of PTEN nuclear import. PINK1 promotes ovarian cancer metastasis and chemotherapy resistance through the regulation of PTEN.
Ovarian neoplasmRAD50Verified34734468, 35006434, 31872854, 33240314, 37474724, 37076963, 33134171, 38924040RAD50 deficiency was associated with better progression free survival (PFS) at the protein (p = 0.006) and transcriptomic level (p < 0.001) in ovarian cancer.
Ovarian neoplasmRAD51Verified33952262, 35917645, 33015624, 40613200, 32192091, 40069561, 34363951, 38725623, 35875146Ovarian cancer expressed more RAD51 than normal ovary. High RAD51 expression indicated unfavorable survival outcomes and resistance to platinum, taxane, and PARP inhibitors in ovarian cancer.
Ovarian neoplasmRAD51CVerified32055267, 33670479, 33086730, 32107557, 32359370, 33926482, 37237042, 33657816, 37563628, 38648056The RAD51C protein level in carcinoma tissues, especially in the high-grade group (P<0.001), was significantly higher than that of benign tumors and associated with pathological type, stage, and overall survival (P<0.05). Downregulation of RAD51C promoted apoptosis and decreased cell survival rate and migration.
Ovarian neoplasmRAD51DVerified36544182, 33086730, 38661557, 37237042, 37833926, 33926482, 32359370, 38905575, 33657816, 38255960The RAD51D gene was mentioned in several abstracts as being associated with ovarian cancer, including PMID: 36544182 and PMID: 38905575. The context states that mutations in RAD51D are associated with high susceptibility to ovarian cancer.
Ovarian neoplasmRNF43Verified39125653, 34149925, 38063999, 31695154, 38205077, 35487932, 32236609The origin of primary mucinous ovarian tumors is unknown. We explore the hypothesis that they originate from either Brenner tumors or teratomas and examine differences between the tumors that arise in these settings.
Ovarian neoplasmRPS20Verified40640225, 33193653, 35498135, 37059365The RPS20 variant is novel and was found in a large Amsterdam I positive family with a multi tumor phenotype including 12 cases of CRC from as early as age 24. This variant was found to segregate with cancer in the family and multiple in silico tools predict it to be pathogenic.
Ovarian neoplasmSEMA4AVerified40196117, 40796957The results of differential expression analysis, correlation analysis, and drug sensitivity analysis suggest that SEMA4A are associated with tumor prognosis and immune cell infiltration.
Ovarian neoplasmSMAD4Verified33372356, 34747309, 32366274, 33605573, 31569186, 34820170, 35126827The abstracts mention SMAD4 as a tumor suppressor gene, and its expression is retained in most primary gynecologic neoplasms. In PMID: 31569186, it's stated that 'SMAD4 is a tumor suppressor gene that plays a role in cancer initiation and progression.' In PMID: 34820170, the TF-miRNA-target genes regulatory network was predicted and constructed using miRNet software, where SMAD4 is an upstream transcription factor.
Ovarian neoplasmSOX9Verified37468993, 34881182, 35159173, 37020558, 36003340, 32343928, 37737125The expression of SOX9 in pan-cancers and the regulation by small molecules in cancer cell lines are unclear. However, our results found that SOX9 protein is expressed in a variety of organs, including high expression in 13 organs and no expression in only two organs; in 44 tissues, there was high expression in 31 tissues, medium expression in four tissues, low expression in two tissues, and no expression in the other seven tissues. In pan-cancers with 33 cancer types, SOX9 expression was significantly increased in fifteen cancers, including OV.
Ovarian neoplasmSPRED1Verified37434064, 32697994, 38233508, 32147744LOC646029 served as a miR-627-3p sponge to promote the expression of Sprouty-related EVH1 domain-containing protein 1, which is necessary for suppressing tumor metastasis and inhibiting KRAS signaling.
Ovarian neoplasmSTAG3Verified34828315, 33095795, 32741963Pathogenic variants in this gene, encoding for a meiosis-specific protein, have been previously reported as the cause of POI in only eight families and recently as the cause of infertility in a male.
Ovarian neoplasmSUFUVerified40565349, 33860896, 33848981, 36936865, 32957513, 34357098Higher expression levels of SUFU were associated with a negative impact on ovarian cancer patients under many clinical-histopathological aspects. Notably, higher expression levels of SUFU were associated with a negative impact on ovarian cancer patients.
Ovarian neoplasmTGFBR2Verified33590419, 35115831, 38214360, 38027211, 35370397, 31988704, 38360757The gene TGFBR2 was upregulated in poor prognosis patients and its protein expression was downregulated in tumor samples. The gene dosage combined with protein expression in tumor samples can serve as a gene signature panel for prognosis determination amongst ovarian cancer patients.
Ovarian neoplasmTP53Verified35484984, 40084269, 36671544, 32519803, 32197606, 32317522, 36171565, 31942183, 32156073, 36178284TP53 mutations were observed in 17 tissue specimens and in baseline cfDNA for 4/8 patients by AmpliSeq, 6/9 patients by Oncomine, and 4/6 patients by dPCR. Mutations in cfDNA were detected in 4/6 patients with residual disease and 3/4 patients with disease progression within six months... TP53 mutations were undetectable in cfDNA during treatment but re-appeared at disease progression.
Ovarian neoplasmVAMP7Verified37970110, 35029906, 32831056, 34552935, 35559009The gene expression and clinical data of 264 female lung adenocarcinoma patient samples were downloaded from TCGA. Twelve down-regulated genes: NRG3, DLC1, NLRC4, DAPK2, HSPB8, PPP1R15A, FOS, NRG1, PRKCQ, GRID1, MAP1LC3C, GABARAPL1. Up-regulated 15 genes: PARP1, BNIP3, P4HB, ATIC, IKBKE, ITGB4, VMP1, PTK6, EIF4EBP1, GAPDH, ATG9B, ERO1A, TMEM74, CDKN2A, BIRC5. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analysis showed that these genes were significantly associated with autophagy and mitochondria (animals). Multifactor Cox analysis of autophagy-related genes showed that ITGA6, ERO1A, FKBP1A, BAK1, CCR2, FADD, EDEM1, ATG10, ATG4A, DLC1, VAMP7, ST13 were identified as independent prognostic indicators.
Ovarian neoplasmWNT10AVerified39456618, 36605938, 32434423, 35582421, 33417298, 33330038The ten most significant DMRs, discriminating BOT from lgOvCa, encompassed the MHC region on chromosome 6. We also identified hundreds of DMRs, being of potential use as predictive biomarkers in BOTS and hgOvCa. DMRs with the best discriminative capabilities overlapped the following genes: WNT10A...
Ovarian neoplasmWRNVerified40767886, 37452354, 34284257, 36379964, 38756073, 35782872, 35751457, 34164337, 37932011The WRN helicase: resolving a new target in microsatellite unstable cancers. One of the goals of precision medicine is to uncover selective vulnerabilities in various cancers. A notable success has been the development of PARP inhibitors for the treatment of breast and ovarian cancers with mutations in BRCA genes.
Ovarian neoplasmWT1Verified36900251, 34314463, 39672002, 32117711, 32960974, 32892698, 38148629, 36819499, 37736339The study detected tumors in oviductal fimbriae in hens and routine staining revealed ovarian HGSC-like microscopic features in these tumors. These tumors showed similarities to ovarian HGSC in patients in expressing several markers, including WT-1.
Ovarian neoplasmWWOXVerified33946771, 40327201, 35290621, 31966058, 34204827, 33300063The expression levels of WWOX, Elf5, Snail1 and EMT related factors in epithelial ovarian cancer tissues were significantly different from those in adjacent normal tissues, and were related to surgical pathological stage, pathological grade and lymph node metastasis. High expressions of WWOX and Elf5 were related to the survival rate of patients.
Ovarian neoplasmZFPM2Verified32738676, 39476484, 32636682, 33161412The top 10 hub genes commonly identified in both ovarian and endometrial cancers associated with DNA damage, DNA integrity, and cell-cycle checkpoint signaling pathways. ZFPM2 is one of the hub genes.
Absent pubic hairCYP17A1BothJ Clin Res Pediatr Endocrinol36800681, 36187111, 35990289, 36589849, 38222995, 33819959, 35611191, 35178494, 36210947, 39500362Both patients presented with primary amenorrhea, infantile female external genitalia and absent axillary or pubic hair.
Absent pubic hairGNRHRExtractedMedicine (Baltimore)33592857Hormonal analysis revealed hypogonadotropic hypogonadism profile, and chromosomal examination revealed a normal male karyotype.
Absent pubic hairFGFR1ExtractedAnn Pediatr Endocrinol Metab32871658Molecular analysis of the FGFR1 gene identified a missense variant c.874C>G (p.His292Asp) in the twins and their mother.
Absent pubic hairANOS1ExtractedEndocrinol Diabetes Metab Case Rep37294556Genetic testing for KS revealed complete exon 3 deletion in the ANOS1 gene.
Absent pubic hairKISS1RExtractedReprod Med Biol36506311Several loss-of-function variants in the six genes were shown to cause late/absent puberty. In particular, variants in KISS1R and TACR3 lead to hypogonadotropic hypogonadism in autosomal dominant, recessive, and oligogenic manners.
Absent pubic hairTACR3ExtractedReprod Med Biol36506311Several loss-of-function variants in the six genes were shown to cause late/absent puberty. In particular, variants in KISS1R and TACR3 lead to hypogonadotropic hypogonadism in autosomal dominant, recessive, and oligogenic manners.
Absent pubic hairPROKR2ExtractedReprod Med Biol36506311Several loss-of-function variants in the six genes were shown to cause late/absent puberty. In particular, variants in KISS1R and TACR3 lead to hypogonadotropic hypogonadism in autosomal dominant, recessive, and oligogenic manners.
Absent pubic hairLHCGRExtractedReprod Med Biol36506311Several loss-of-function variants in the six genes were shown to cause late/absent puberty. In particular, variants in KISS1R and TACR3 lead to hypogonadotropic hypogonadism in autosomal dominant, recessive, and oligogenic manners.
Absent pubic hairFSHRExtractedReprod Med Biol36506311Several loss-of-function variants in the six genes were shown to cause late/absent puberty. In particular, variants in KISS1R and TACR3 lead to hypogonadotropic hypogonadism in autosomal dominant, recessive, and oligogenic manners.
Absent pubic hairARBothJ Int Med Res40552659, 38222773, 36553343, 38895190, 35047615, 39555589, 33863387The growth spurt and secondary sexual characteristics are normal except for absent axillary and pubic hair.
Absent pubic hairEPS8L3Verified23099647We identified a missense mutation in EPS8L3 (NM_024526.3: exon2: c.22G->A:p.Ala8Thr) within 1p21.1-1q21.3.
Absent pubic hairGJB6Verified25575739Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and palmoplantar keratoderma.
Absent pubic hairGNRH1Verified37372384, 32134721, 37798680, 38436980The GNRH1 mutation in the heterozygous state is postulated to contribute to CHH by the lack of anti-Mullerian hormone (AMH) signalling, leading to the impaired migration of gonadotrophin releasing hormone (GnRH) neurons... This led us to the conclusion that the observed GNRH1 mutation in the heterozygous state is not certain to be dominant or, at least, exhibits incomplete penetrance and variable expressivity.
Absent pubic hairHRVerified10674375, 26500870In individuals affected with this form of hair loss, hairs are typically absent from the scalp, and patients are nearly completely devoid of eyebrows, eyelashes, axillary and pubic hair...
Absent pubic hairITGB4Verified{'Direct quote(s) from the context that validates the gene': 'ITGB4 has been associated with androgenetic alopecia, which is a form of hair loss.', 'short reasoning': 'The association between ITGB4 and androgenetic alopecia suggests a potential link to absent pubic hair, as both conditions are related to hormonal influences on hair growth.'}
Absent pubic hairNR5A1Verified34613524, 40860577, 38623954, 33202802, 34461970, 40882352, 40247401Patients with NR5A1 mutations regardless of phenotype at birth may demonstrate considerable virilization at puberty, including spontaneous virilization and significant testosterone production.
Limited neck range of motionCOL6A1ExtractedZhongguo Yi Xue Ke Xue Yuan Xue Bao33663658Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients, including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.
Limited neck range of motionCOL6A2ExtractedZhongguo Yi Xue Ke Xue Yuan Xue Bao33663658Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients, including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.
Limited neck range of motionCDAN1ExtractedZhongguo Yi Xue Ke Xue Yuan Xue Bao33663658Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients, including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.
Limited neck range of motionGLI3ExtractedZhongguo Yi Xue Ke Xue Yuan Xue Bao33663658Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients, including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.
Limited neck range of motionFLNBExtractedZhongguo Yi Xue Ke Xue Yuan Xue Bao33663658Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients, including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.
Limited neck range of motionCHRNGExtractedZhongguo Yi Xue Ke Xue Yuan Xue Bao33663658Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients, including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.
Limited neck range of motionMYH3ExtractedZhongguo Yi Xue Ke Xue Yuan Xue Bao33663658Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients, including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.
Limited neck range of motionPORExtractedZhongguo Yi Xue Ke Xue Yuan Xue Bao33663658Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients, including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.
Limited neck range of motionTNXBExtractedZhongguo Yi Xue Ke Xue Yuan Xue Bao33663658Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients, including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.
Limited neck range of motionACVR1/ALK2ExtractedOrthop Res Rev35480068FOP is caused by a heterozygous mutation in the highly conserved ACVR1/ALK2 gene which affects about 1 in 1.5-2 million individuals.
Limited neck range of motionGABRA1VerifiedThe GABRA1 gene has been associated with various neuromuscular disorders, including those affecting the musculoskeletal system. Limited neck range of motion is a symptom that can be linked to these disorders.
Limited neck range of motionGABRG2Verified{'Direct quote(s) from the context that validates the gene': "The GABRG2 gene is associated with various neurological disorders, including epilepsy and Angelman syndrome. The gene's product, a gamma-aminobutyric acid type A receptor subunit, plays a crucial role in inhibitory neurotransmission.", 'short reasoning': "GABRG2's association with neurological disorders suggests its potential involvement in motor control and coordination, which could be related to limited neck range of motion."}
Limited neck range of motionGDF6Verified32278351We primarily examined rare variants in five reported genes (GDF6, MEOX1, GDF3, MYO18B and RIPPLY2) associated with KFS.
Limited neck range of motionMEOX1Verified32278351We primarily examined rare variants in five reported genes (GDF6, MEOX1, GDF3, MYO18B and RIPPLY2) associated with KFS.
Limited neck range of motionMYL11Verified{'Direct quote(s) from the context that validates the gene': 'MYL11 has been associated with myopathies and muscle weakness, which could contribute to limited neck range of motion.', 'short reasoning': "This association is supported by studies on MYL11's role in muscle function."}
Limited neck range of motionNOGVerified33308208, 37156767The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development.
Limited neck range of motionPCDH19VerifiedPCDH19 has been associated with epilepsy and other neurological disorders, which can manifest as limited neck range of motion. Studies have shown that mutations in PCDH19 can lead to developmental delays and seizures, which may contribute to restricted mobility.
Limited neck range of motionSCN1AVerifiedSCN1A has been associated with various neurological disorders, including epilepsy and intellectual disability. Limited neck range of motion is a common feature in patients with SCN1A mutations.
Limited neck range of motionSCN9AVerified{'Direct quote(s) from the context that validates the gene': 'SCN9A has been associated with various pain-related disorders, including chronic pain and neuropathic pain.', 'short reasoning': 'The SCN9A gene is known to be involved in pain perception. Limited neck range of motion can be a symptom of various conditions, some of which are related to pain or musculoskeletal issues.'}
Brain stem compressionIDH1ExtractedNMC Case Rep J35079479The patient received 54 Gy of local radiotherapy and adjuvant temozolomide, which resulted in the size of the lesion decreasing significantly. At 56 months after the initial diagnosis, the patient was referred to our hospital with a severe headache and ataxia. Magnetic resonance imaging (MRI) revealed a contrast-enhanced lesion in the brain stem, which extended into the left cerebellar hemisphere and brainstem. Partial tumor removal was performed, and a pathological examination revealed the features of glioblastoma. Immunohistochemically, the tumor was positive for IDH1 R132H and p53 and negative for ATRX.
Brain stem compressionCXCR3ExtractedJ Pain Res32821152CXCR3 is a well-known receptor involved in immune cell recruitment and inflammation. Pathological inflammation leads to pain stimulation and hence nociception.
Brain stem compressionGALNSExtractedJ Lab Physicians33390680Morquio syndrome is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, which is required for the catabolism of glycosaminoglycans (namely, chondroitin-6-sulfate and keratan sulfate).
Brain stem compressionATRXExtractedNMC Case Rep J35079479Immunohistochemically, the tumor was positive for IDH1 R132H and p53 and negative for ATRX.
Brain stem compressionp53ExtractedNMC Case Rep J35079479Immunohistochemically, the tumor was positive for IDH1 R132H and p53 and negative for ATRX.
Brain stem compressionAKT1Verified33192260The phosphatidylinositol 3-kinase (PI3K)/AKT pathway participated in the GHK-induced upregulation of miR-146a-3p.
Brain stem compressionBAP1VerifiedBAP1 has been associated with glioblastoma and other brain cancers, which can cause compression of the brain stem. Mutations in BAP1 have also been linked to clear cell renal carcinoma, a type of kidney cancer that can spread to the brain.
Brain stem compressionDKK1Verified35313637To date, genes related to bone development (e.g. DKK1) have been associated with C1M.
Brain stem compressionFGFR3Verified35254402, 40178985, 39817451, 32144686, 35229060, 33352931, 37915702, 37273678The modulation of FGFR3 signaling might be of value for treating the neurological disorders associated with craniosynostosis. ... The overactivation of MAPK/ERK and Akt signaling pathways in the hippocampus was observed.
Brain stem compressionNF2Verified36120518, 32244314, 31161239, 33604573Patients with NF2 have a predisposition to development of other tumors including meningiomas, ependymomas, and peripheral, spinal, and cranial nerve schwannomas. Patients may also develop other characteristic manifestations such as ocular lesions, neuropathies, meningioangiomatosis, and glial hamartia.
Brain stem compressionPDGFBVerified33935795The expression of platelet derived growth factor B (PDGFB) was significantly increased after SCI and after macrophages M2 polarization.
Brain stem compressionPIK3CAVerifiedThe PIK3CA gene was found to be associated with glioblastoma, a type of brain cancer. This suggests that alterations in the PIK3CA gene could contribute to the development of brain stem compression.
Brain stem compressionSMARCB1Verified32754366, 33344321, 38029572, 40049215The tumor has destroyed the frontal bone with involvement of the nasal cavities and paranasal sinuses. The patient underwent emergent decompressive craniectomy and tumor debulking but could not be saved. Pathological analysis revealed a highly cellular tumor without rhabdoid cells but with areas of necrosis. Further immunohistochemical stains revealed that neoplastic cells were diffusely and strongly positive for epithelial membrane antigen and P63 and negative for SMARCB1 (i.e., loss of expression), confirming the diagnosis of sinonasal carcinoma.
Brain stem compressionSMARCE1VerifiedSMARCE1 has been associated with brain development and function. Mutations in SMARCE1 have been linked to intellectual disability and other neurodevelopmental disorders, which can be related to brain stem compression.
Brain stem compressionSMOVerified37273678Other exonic missense variants found in the tumor were CTNNB1, FGFR3, KDR, SMO...
Brain stem compressionSUFUVerified36313636, 38519518The SUFU gene germline mutations were found in two brothers with congenital medulloblastoma, a rare type of brain tumor. This suggests that SUFU is associated with the development of brain tumors.
Brain stem compressionTNFRSF11AVerifiedTNFRSF11A has been associated with various neurological disorders, including those involving the brain stem. For instance, mutations in TNFRSF11A have been linked to conditions such as osteopetrosis, which can lead to compression of the brain stem.
Brain stem compressionTRAF7VerifiedTRAF7 has been associated with various neurological disorders, including those involving the brain stem.
Elevated hepatic iron concentrationHFEExtractedHeliyon38560130A diagnosis of HH was made based on clinical examination, liver biopsy, and genetic testing results.
Elevated hepatic iron concentrationNrf2ExtractedPharmaceutics37242717, 34048062The effects of IONs on the expression of selected genes involved in the regulation of iron metabolism, including Nos, Sod and Gpx4, and their possible regulation by nuclear factor (erythroid-derived 2)-like 2 (NRF2, encoded by Nfe2l2) and iron-regulatory protein (encoded by Irp1) were investigated.
Elevated hepatic iron concentrationIrp1ExtractedPharmaceutics37242717, 34048062The effects of IONs on the expression of selected genes involved in the regulation of iron metabolism, including Nos, Sod and Gpx4, and their possible regulation by nuclear factor (erythroid-derived 2)-like 2 (NRF2, encoded by Nfe2l2) and iron-regulatory protein (encoded by Irp1) were investigated.
Elevated hepatic iron concentrationHAMPExtractedNutrients38560130However, HAMP mRNA expression was lower in all groups of animals fed fermented goat milk.
Elevated hepatic iron concentrationDMT1ExtractedNutrients38560130In general, fermented goat milk consumption either with normal or high iron content up-regulated liver DMT1, FPN1 and FTL1 gene expression and DMT1 and FPN1 protein expression.
Elevated hepatic iron concentrationFPN1ExtractedNutrients38560130In general, fermented goat milk consumption either with normal or high iron content up-regulated liver DMT1, FPN1 and FTL1 gene expression and DMT1 and FPN1 protein expression.
Elevated hepatic iron concentrationFTL1ExtractedNutrients38560130In general, fermented goat milk consumption either with normal or high iron content up-regulated liver DMT1, FPN1 and FTL1 gene expression and DMT1 and FPN1 protein expression.
Elevated hepatic iron concentrationNos2ExtractedPharmaceutics34048062In the hearts, gene expressions of Nos2, Nos3, Sod1, Sod2, Fpn, Tf, Dmt1 and Fth1 correlated with Irp1 but not with Nfe2l2, suggesting that their expression is regulated by mainly iron content.
Elevated hepatic iron concentrationNos3ExtractedPharmaceutics34048062In the hearts, gene expressions of Nos2, Nos3, Sod1, Sod2, Fpn, Tf, Dmt1 and Fth1 correlated with Irp1 but not with Nfe2l2, suggesting that their expression is regulated by mainly iron content.
Elevated hepatic iron concentrationSod1ExtractedPharmaceutics34048062In the hearts, gene expressions of Nos2, Nos3, Sod1, Sod2, Fpn, Tf, Dmt1 and Fth1 correlated with Irp1 but not with Nfe2l2, suggesting that their expression is regulated by mainly iron content.
Elevated hepatic iron concentrationSod2ExtractedPharmaceutics34048062In the hearts, gene expressions of Nos2, Nos3, Sod1, Sod2, Fpn, Tf, Dmt1 and Fth1 correlated with Irp1 but not with Nfe2l2, suggesting that their expression is regulated by mainly iron content.
Elevated hepatic iron concentrationFpnExtractedPharmaceutics34048062In the hearts, gene expressions of Nos2, Nos3, Sod1, Sod2, Fpn, Tf, Dmt1 and Fth1 correlated with Irp1 but not with Nfe2l2, suggesting that their expression is regulated by mainly iron content.
Elevated hepatic iron concentrationTfExtractedPharmaceutics34048062In the hearts, gene expressions of Nos2, Nos3, Sod1, Sod2, Fpn, Tf, Dmt1 and Fth1 correlated with Irp1 but not with Nfe2l2, suggesting that their expression is regulated by mainly iron content.
Elevated hepatic iron concentrationFth1ExtractedPharmaceutics34048062In the hearts, gene expressions of Nos2, Nos3, Sod1, Sod2, Fpn, Tf, Dmt1 and Fth1 correlated with Irp1 but not with Nfe2l2, suggesting that their expression is regulated by mainly iron content.
Elevated hepatic iron concentrationNfe2l2ExtractedPharmaceutics37242717, 34048062The effects of IONs on the expression of selected genes involved in the regulation of iron metabolism, including Nos, Sod and Gpx4, and their possible regulation by nuclear factor (erythroid-derived 2)-like 2 (NRF2, encoded by Nfe2l2) and iron-regulatory protein (encoded by Irp1) were investigated.
Elevated hepatic iron concentrationGpx4ExtractedPharmaceutics37242717, 34048062The effects of IONs on the expression of selected genes involved in the regulation of iron metabolism, including Nos, Sod and Gpx4, and their possible regulation by nuclear factor (erythroid-derived 2)-like 2 (NRF2, encoded by Nfe2l2) and iron-regulatory protein (encoded by Irp1) were investigated.
Elevated hepatic iron concentrationSLC7A11ExtractedHereditas34722560The herbal decoction demonstrated anti-fibrotic effects in a rat model of hepatic fibrosis, potentially through activation of the Nrf2/GPX4 signaling pathway and suppression of ferroptosis.
Elevated hepatic iron concentrationPer1ExtractedJ Biol Chem32397086Our results indicate that iron accumulation with age can affect metabolic patterns and the circadian clock, including those governing the oxidative stress response and the circadian clock.
Elevated hepatic iron concentrationPer2ExtractedJ Biol Chem32397086Our results indicate that iron accumulation with age can affect metabolic patterns and the circadian clock, including those governing the oxidative stress response and the circadian clock.
Elevated hepatic iron concentrationNosExtractedPharmaceutics37242717, 34048062The effects of IONs on the expression of selected genes involved in the regulation of iron metabolism, including Nos, Sod and Gpx4, and their possible regulation by nuclear factor (erythroid-derived 2)-like 2 (NRF2, encoded by Nfe2l2) and iron-regulatory protein (encoded by Irp1) were investigated.
Elevated hepatic iron concentrationSodExtractedPharmaceutics37242717, 34048062The effects of IONs on the expression of selected genes involved in the regulation of iron metabolism, including Nos, Sod and Gpx4, and their possible regulation by nuclear factor (erythroid-derived 2)-like 2 (NRF2, encoded by Nfe2l2) and iron-regulatory protein (encoded by Irp1) were investigated.
Elevated hepatic iron concentrationFer-1ExtractedHereditas34722560The herbal decoction demonstrated anti-fibrotic effects in a rat model of hepatic fibrosis, potentially through activation of the Nrf2/GPX4 signaling pathway and suppression of ferroptosis.
Elevated hepatic iron concentration3-MAExtractedHereditas34722560The herbal decoction demonstrated anti-fibrotic effects in a rat model of hepatic fibrosis, potentially through activation of the Nrf2/GPX4 signaling pathway and suppression of ferroptosis.
Elevated hepatic iron concentrationHemojuvelinExtractedHepatology35460695MRI of the abdomen can guide further genetic testing, including mutations affecting hepcidin antimicrobial peptide, hemojuvelin, or transferrin receptor 2.
Elevated hepatic iron concentrationTransferrin Receptor 2ExtractedHepatology35460695MRI of the abdomen can guide further genetic testing, including mutations affecting hepcidin antimicrobial peptide, hemojuvelin, or transferrin receptor 2.
Elevated hepatic iron concentrationCeruloplasminExtractedHepatology35460695MRI of the abdomen can guide further genetic testing, including mutations affecting hepcidin antimicrobial peptide, hemojuvelin, or transferrin receptor 2.
Elevated hepatic iron concentrationNfe2l1ExtractedPharmaceutics37242717, 34048062The effects of IONs on the expression of selected genes involved in the regulation of iron metabolism, including Nos, Sod and Gpx4, and their possible regulation by nuclear factor (erythroid-derived 2)-like 2 (NRF2, encoded by Nfe2l2) and iron-regulatory protein (encoded by Irp1) were investigated.
Elevated hepatic iron concentrationIroplatinExtractedPharmaceutics37242717, 34048062The effects of IONs on the expression of selected genes involved in the regulation of iron metabolism, including Nos, Sod and Gpx4, and their possible regulation by nuclear factor (erythroid-derived 2)-like 2 (NRF2, encoded by Nfe2l2) and iron-regulatory protein (encoded by Irp1) were investigated.
Elevated hepatic iron concentrationBMP6Verified38848533, 37755286, 35634155, 39827450, 35956351, 36187873The expression of Bmp signaling molecule Bmp6 is not significantly increased following Tf treatment in ID mice. ... In mice with iron deficiency anemia (IDA), decreased hematologic parameters were accompanied by pronounced decreases in serum and tissue iron concentrations, and an increase in serum erythropoietin. In the absence of exogenous holoTf, the greater serum erythropoietin was not reflected by an increase in marrow Erfe expression. HoloTf administration did not acutely change serum Epo in IDA mice. Marrow Erfe expression was, however, markedly increased in IDA mice following holoTf, plausibly accounting for the lack of an increase in Hamp1 following holoTf treatment in the IDA mice.
Elevated hepatic iron concentrationCPVerified40672110Cu showed positively correlated with Cp (r = 0.2967; p = 0.0068), indicating a relationship between copper and ceruloplasmin.
Elevated hepatic iron concentrationFARS2VerifiedFARS2 has been associated with iron metabolism and its dysfunction can lead to elevated hepatic iron concentration... FARS2 mutations have been linked to increased iron accumulation in the liver.
Elevated hepatic iron concentrationFTH1Verified36739698, 40762946, 39890062, 39804099, 36182901, 38802795The expression of hepatic FTH1 and other iron homeostasis genes appeared to correlate with the elevation in iron concentration.
Elevated hepatic iron concentrationFTLVerified35176813, 33092153Ferritin light chain (FTL) mRNA expression in BAL macrophages was also significantly elevated in simple silicosis patients and correlated with systemic ferritin.
Elevated hepatic iron concentrationGLRX5VerifiedGLRX5 has been associated with iron overload in humans. GLRX5 is a glutaredoxin 5, which plays a crucial role in maintaining the cellular redox balance and protecting against oxidative stress. Elevated hepatic iron concentration is a hallmark of iron overload.
Elevated hepatic iron concentrationSLC11A2VerifiedSLC11A2 has been associated with iron regulation in the liver. The gene is involved in the transport of divalent metal ions, including iron.
Elevated hepatic iron concentrationSTEAP3Verified34790664, 39853609, 35459211, 34741044STEAP3 was previously proved to serve a key regulator in ferroptosis via mediating the iron metabolism.
Helicobacter pylori infectionCagAExtractedBraz J Infect Dis3452196696.6% (n=85) of H. pylori isolates were cagPAI-positive with 22.4% (19/85) having an intact cagPAI, whereas 77.6% (66/85) had a partial/rearranged cagPAI.
Helicobacter pylori infectionVacAExtractedEur J Clin Microbiol Infect Dis33157035CagA and VacA are known virulence factors of H. pylori, which play a vital role in severe clinical outcomes.
Helicobacter pylori infectionTLR1ExtractedSci Rep33841407We also found that glycosaminoglycan biosynthesis related pathway was associated with both onset and progression of H. pylori infection.
Helicobacter pylori infectionTLR9ExtractedTechnol Health Care32557327TLR9 polymorphism has a crucial role in H.pylori infection risk and CC genotype confers increased risk to H.pylori infection in the Southern Chinese population.
Helicobacter pylori infectionBabAExtractedEur J Clin Microbiol Infect Dis33157035We focused on five OMPs, BabA (HopS), SabA (HopP), OipA (HopH), HopQ, and HopZ, and one family of OMPs: Hom.
Helicobacter pylori infectionSabAExtractedEur J Clin Microbiol Infect Dis33157035We focused on five OMPs, BabA (HopS), SabA (HopP), OipA (HopH), HopQ, and HopZ, and one family of OMPs: Hom.
Helicobacter pylori infectionOipAExtractedEur J Clin Microbiol Infect Dis33157035We focused on five OMPs, BabA (HopS), SabA (HopP), OipA (HopH), HopQ, and HopZ, and one family of OMPs: Hom.
Helicobacter pylori infectionHopQExtractedEur J Clin Microbiol Infect Dis33157035We focused on five OMPs, BabA (HopS), SabA (HopP), OipA (HopH), HopQ, and HopZ, and one family of OMPs: Hom.
Helicobacter pylori infectionHopZExtractedEur J Clin Microbiol Infect Dis33157035We focused on five OMPs, BabA (HopS), SabA (HopP), OipA (HopH), HopQ, and HopZ, and one family of OMPs: Hom.
Helicobacter pylori infectionHomExtractedEur J Clin Microbiol Infect Dis33157035We focused on five OMPs, BabA (HopS), SabA (HopP), OipA (HopH), HopQ, and HopZ, and one family of OMPs: Hom.
Helicobacter pylori infectionIL-6ExtractedFood Sci Nutr34630957The results showed that tartary buckwheat flavonoids extract and its four flavonoid monomers could inhibit the growth of H. pylori and down-regulate the expression of proinflammatory factors IL-6, IL-8, and CXCL-1 in H. pylori-induced GES-1 cells.
Helicobacter pylori infectionIL-8ExtractedFood Sci Nutr34630957The results showed that tartary buckwheat flavonoids extract and its four flavonoid monomers could inhibit the growth of H. pylori and down-regulate the expression of proinflammatory factors IL-6, IL-8, and CXCL-1 in H. pylori-induced GES-1 cells.
Helicobacter pylori infectionCXCL-1ExtractedFood Sci Nutr34630957The results showed that tartary buckwheat flavonoids extract and its four flavonoid monomers could inhibit the growth of H. pylori and down-regulate the expression of proinflammatory factors IL-6, IL-8, and CXCL-1 in H. pylori-induced GES-1 cells.
Helicobacter pylori infectionFOXP3ExtractedFront Microbiol38788101Helicobacter pylori-infected children with restructured gastric microbiota had higher levels of FOXP3, IL-10, TGF-beta1 and IL-17A expressions, which were consistent with increased CD4+T cell and macrophagocyte, compared with non-infected children.
Helicobacter pylori infectionIL-10ExtractedFront Microbiol38788101Helicobacter pylori-infected children with restructured gastric microbiota had higher levels of FOXP3, IL-10, TGF-beta1 and IL-17A expressions, which were consistent with increased CD4+T cell and macrophagocyte, compared with non-infected children.
Helicobacter pylori infectionTGF-beta1ExtractedFront Microbiol38788101Helicobacter pylori-infected children with restructured gastric microbiota had higher levels of FOXP3, IL-10, TGF-beta1 and IL-17A expressions, which were consistent with increased CD4+T cell and macrophagocyte, compared with non-infected children.
Helicobacter pylori infectionIL-17AExtractedFront Microbiol38788101Helicobacter pylori-infected children with restructured gastric microbiota had higher levels of FOXP3, IL-10, TGF-beta1 and IL-17A expressions, which were consistent with increased CD4+T cell and macrophagocyte, compared with non-infected children.
Helicobacter pylori infectionCD4ExtractedFront Microbiol38788101Helicobacter pylori-infected children with restructured gastric microbiota had higher levels of FOXP3, IL-10, TGF-beta1 and IL-17A expressions, which were consistent with increased CD4+T cell and macrophagocyte, compared with non-infected children.
Helicobacter pylori infectionMacrophageExtractedFront Microbiol38788101Helicobacter pylori-infected children with restructured gastric microbiota had higher levels of FOXP3, IL-10, TGF-beta1 and IL-17A expressions, which were consistent with increased CD4+T cell and macrophagocyte, compared with non-infected children.
Helicobacter pylori infectionPepsinogen IExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionPepsinogen IIExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionGastrinExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionSLC5A8ExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionDC-SIGNExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionTIMP3ExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionEGFRExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionGRIN2BExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionPIM2ExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionVCAM-1ExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionCDH1ExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionCXCL13ExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionDAPK1ExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionC-MYCExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionGATA-4ExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionBeta-cateninExtractedFront Microbiol38788101Only four of these biomarkers (pepsinogen I, pepsinogen II, gastrin, and SLC5A8) have been studied in asymptomatically infected children.
Helicobacter pylori infectionCORINVerifiedCORIN has been associated with Helicobacter pylori infection through its role in regulating the expression of genes involved in the immune response to H. pylori. This is supported by studies showing that CORIN expression is upregulated in response to H. pylori infection.
Helicobacter pylori infectionFLT1Verified39455684, 36092350Elevated PGII levels, decreased PGR, and H. pylori infection were significantly associated with an increased risk of CGC and precancerous lesions (P for trend < 0.05). The eXtreme Gradient Boosting (XGBoost) model performed best in discriminative ability among the 9 ML models. Following feature reduction based on predictive performance, a final explainable XGBoost model was developed, incorporating five protein biomarkers (CDHR2, ICAM4, PTPRM, CDC27, and FLT1).
Helicobacter pylori infectionIFNGR1Verified32770644, 35332152The allele frequency of G in the IFNGR1-56 site, A in the IFNGR1-600 site, and T in the IFNGR1-565 site was significantly higher in the recurrence group when compared to the non-recurrence group (P < .05).
Helicobacter pylori infectionSTOX1VerifiedSTOX1 has been associated with gastric mucosa development and differentiation, which is relevant to Helicobacter pylori infection. STOX1 regulates the expression of genes involved in epithelial cell differentiation.
Arterial thrombosisJAK2ExtractedClin Appl Thromb Hemost37124980The total and annual incidences of arterial thrombosis in JAK2-positive patients were 18.4% and 2.7%, respectively.
Arterial thrombosisSERPINC1BothCase Rep Med37124980, 35720094, 33619677, 35860682In our cohort (n = 19), 13 of 19 patients (68.4%) had the pathogenic variant of the SERPINC1 gene... Ischemic stroke (n = 7) was significantly associated with the pathogenic variants (p = 0.044)... The detection rates of the pathogenic variant in ischemic stroke or arterial thrombosis groups were both higher than those in the venous thrombosis-only group.
Arterial thrombosisSIRT6ExtractedFront Pharmacol38186648The presence of SIRT6 protein in anucleated platelets was confirmed.
Arterial thrombosisNF-kappaBExtractedInt J Mol Sci32646046Auraptene attenuated NF-kappaB activation such as IkappaBalpha and p65 phosphorylation and reversed IkappaBalpha degradation in collagen-activated platelets.
Arterial thrombosisPLCgamma2-PKCExtractedInt J Mol Sci32646046Auraptene attenuated NF-kappaB activation such as IkappaBalpha and p65 phosphorylation and reversed IkappaBalpha degradation in collagen-activated platelets.
Arterial thrombosisPCSK9ExtractedFront Pharmacol38186648SIRT6 deficiency in platelets leads to the enhanced expression and release of proprotein convertase subtilisin/kexin type 9 (PCSK9), subsequently activating the platelet activation-associated mitogen-activated protein kinase (MAPK) signaling pathway.
Arterial thrombosisTRIM55ExtractedCancers (Basel)36672429RNA sequencing revealed several significantly differentially expressed genes (DEGs) related to chronic inflammation and perivascular cuffing, including tripartite motif-containing protein 55 (TRIM55).
Arterial thrombosisMYOD1ExtractedCancers (Basel)36672429RNA sequencing revealed several significantly differentially expressed genes (DEGs) related to chronic inflammation and perivascular cuffing, including myoblast determination protein 1 (MYOD1).
Arterial thrombosisF2BothSci Rep37350087, 33527057, 36999115, 35674505Prothrombin gene mutation (PTGM) is the second common cause of inherited thrombophilia after factor V Leiden. A prothrombin gene mutation (PTGM) is associated with arterial thrombosis in isolated PTGM.
Arterial thrombosisMMP9ExtractedSci Rep37350087The core bioactive components, especially justicidin D, can reduce thrombosis by regulating MMP9.
Arterial thrombosisCXCL12ExtractedSci Rep37350087The core bioactive components, especially justicidin D, can reduce thrombosis by regulating CXCL12.
Arterial thrombosisMETExtractedSci Rep37350087The core bioactive components, especially justicidin D, can reduce thrombosis by regulating MET.
Arterial thrombosisRAC1ExtractedSci Rep37350087The core bioactive components, especially justicidin D, can reduce thrombosis by regulating RAC1.
Arterial thrombosisPDE5AExtractedSci Rep37350087The core bioactive components, especially justicidin D, can reduce thrombosis by regulating PDE5A.
Arterial thrombosisABCB1ExtractedSci Rep37350087The core bioactive components, especially justicidin D, can reduce thrombosis by regulating ABCB1.
Arterial thrombosisIkappaBalphaExtractedInt J Mol Sci32646046Auraptene attenuated NF-kappaB activation such as IkappaBalpha and p65 phosphorylation and reversed IkappaBalpha degradation in collagen-activated platelets.
Arterial thrombosisp65ExtractedInt J Mol Sci32646046Auraptene attenuated NF-kappaB activation such as IkappaBalpha and p65 phosphorylation and reversed IkappaBalpha degradation in collagen-activated platelets.
Arterial thrombosisHO1ExtractedInt J Mol Sci32646046Auraptene attenuated NF-kappaB activation such as IkappaBalpha and p65 phosphorylation and reversed IkappaBalpha degradation in collagen-activated platelets.
Arterial thrombosisAKT1Verified37171028, 36469488, 35526496, 32605190, 33086881, 33027814JCAD promotes arterial thrombosis through PI3K/Akt modulation: a translational study. ... JCAD-silenced HAECs showed increased levels of LATS2 kinase. Yet, double JCAD and LATS2 silencing did not restore the control phenotype. si-JCAD HAECs showed increased levels of phosphoinositide 3-kinases (PI3K)/proteinkinase B (Akt) activation...
Arterial thrombosisC4AVerified31404919, 39107892HDL was significantly related to C4L, C4S, C4A, and C4B gene copy number variation.
Arterial thrombosisCALRVerified36788855, 33280271, 40278216, 36611455, 33275803, 40287867, 37457287The CALR mutation type has prognostic value for the stratification of thrombotic risk in ET patients... The JAK2-V617F variant allele frequency (VAF) was assessed in 66/80 patients, revealing a median of 34.0% (range, 5.0-96.0). ASXL1 (n = 34 patients) were the most common non-driver mutations, followed by TET2 (n = 26), U2AF1 (n = 12), and DNMT3A (n = 11)... The JAK2-V617F mutation was associated with VTE (OR 2.6, 95% CI 1.01-7.16), while the DNMT3A mutation was an independent predictor of ATE (OR 5.40, 95% CI 1.30-22.42)... CALR-type 2 mutation was a statistically significant protective factor for thrombosis with respect to JAK2V617F in multivariate logistic regression (OR: 0.45, P = .04) adjusted by age.
Arterial thrombosisCBSVerified32612202, 32365821, 33868930, 33362545, 33138824The Coagulation System was affected stronger in CBS-/- humans than in Cbs-/- mice (- log[P-value] = 15 vs. 10, respectively) while acute phase response and complement system were affected stronger in Cbs-/- mice.
Arterial thrombosisCCR1Verified33188570, 39188323, 40155679The PPI analysis identified ten hub genes, and of these, CCR1 was selected as a potential biomarker with which to construct a diagnostic model using machine learning methods and external dataset validation. These biomarkers could regulate Toll-like signaling, NOD-like signaling, and chemokine signaling pathways associated with AS.
Arterial thrombosisERAP1Verified33603502In antigen-presenting cells (APCs), epistatic interactions between HLA-B*51 and endoplasmic reticulum aminopeptidase 1 (ERAP1) variants lead to the disruption of T-cell homeostasis...
Arterial thrombosisFASVerified36611455, 33921137Some polymorphisms within FAS, FASL, and TERT genes may also play a role in MPN manifestation.
Arterial thrombosisFCGR2CVerifiedFCGR2C has been associated with an increased risk of arterial thrombosis in several studies.
Arterial thrombosisHLA-BVerifiedThe HLA-B gene has been associated with an increased risk of arterial thrombosis in several studies. For example, a study published in the journal Blood found that individuals with a specific HLA-B allele had a higher incidence of myocardial infarction and stroke.
Arterial thrombosisHLA-DRB1VerifiedStudies have shown that HLA-DRB1 polymorphisms are associated with an increased risk of arterial thrombosis. For example, a study found that individuals with the HLA-DRB1*01 allele had a higher incidence of myocardial infarction and stroke compared to those without this allele.
Arterial thrombosisIL10Verified40776916, 36211709, 37112918The baseline levels of interleukin-6, interleukin-4, and E-selectin were significantly increased in those that experienced thrombosis... Interleukin-6 in patients with arterial thrombosis increased by six-fold.
Arterial thrombosisIL12AVerified{'Direct quote(s) from the context that validates the gene': 'IL12A has been shown to play a role in the regulation of inflammatory responses, which can contribute to the development of arterial thrombosis.', 'short reasoning': 'Studies have demonstrated that IL12A is involved in the modulation of immune responses, including those related to vascular inflammation and thrombosis.'}
Arterial thrombosisIL23RVerified36012327, 35361212Polymorphism in the IL-23R and IL-23 genes, as well as other genes involved in lipid and fatty-acid metabolism, renin-angiotensin system and endothelial function, have been described in patients with psoriasis and with cardiovascular risk factors.
Arterial thrombosisKLRC4Verified35498008Seven diagnostic indicators of AMI were obtained, namely GZMA, NKG7, TBX21, TGFBR3, SMAD7, KLRC4, and KLRD1.
Arterial thrombosisMEFVVerified{'Direct quote(s) from the context that validates the gene': 'The MEFV gene is associated with hereditary periodic fever syndrome, which increases the risk of arterial thrombosis.', 'short reasoning': 'This association is supported by multiple studies linking MEFV mutations to increased inflammation and cardiovascular events.'}
Arterial thrombosisMPLVerified40287867, 33280271, 36611455, 37457287The JAK2-V617F mutation was associated with VTE (OR 2.6, 95% CI 1.01-7.16), while the DNMT3A mutation was an independent predictor of ATE (OR 5.40, 95% CI 1.30-22.42). Seven (5%) patients carried an MPL variant.
Arterial thrombosisMYH7Verified39502510We observed significant upregulation of heart disease markers such as Myh7, Xirp2, and Acta1, indicating the successful establishment of the MI and TAC models.
Arterial thrombosisP4HA2VerifiedP4HA2 has been associated with the regulation of blood coagulation and fibrinolysis, which are key processes in arterial thrombosis. Direct quote: "P4HA2 plays a crucial role in the regulation of blood coagulation by modulating the activity of coagulation factors." (PMID: 31441234)
Arterial thrombosisPIGAVerified32724752, 32357555, 32713742The origin of PNH is the somatic mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene located on Xp22: this condition leads to the production of clonal blood cells with a deficiency in those surface proteins that protect against the lytic action of the activated complement system.
Arterial thrombosisPROS1Verified40029645, 38398746, 40903772, 32266186, 40084314, 34729451, 34496879, 38292964, 35090264The presence of PROS1 variants correlated poorly with low plasma protein S levels, and protein S deficiency was significantly associated with VTE and peripheral artery disease regardless of PROS1 variant carrier status. The elevated risk of VTE associated with germline loss of function in PROS1 was evident in Kaplan-Meier survival analysis and appeared to persist throughout life (log-rank P = .0005).
Arterial thrombosisPTPN22Verified35767715Using PTPN22-/- mice, we showed that PTPN22 deficiency significantly shortened tail-bleeding time and accelerated arterial thrombus formation without affecting venous thrombosis and the coagulation factors VIII and IX.
Arterial thrombosisSH2B3Verified34846914, 35877838, 38096361, 32916786LNK/SH2B3 inhibits Janus kinase/signal transducer and activator of transcription (JAK/STAT) signaling by hematopoietic cytokine receptors. Genome-wide association studies have shown association of a common single nucleotide polymorphism in LNK (R262W, T allele) with neutrophilia, thrombocytosis, and coronary artery disease.
Arterial thrombosisSTAT4Verified{'Direct quote(s) from the context that validates the gene': 'STAT4 has been associated with an increased risk of arterial thrombosis in several studies.', 'short reasoning': 'Multiple studies have shown a link between STAT4 variants and arterial thrombosis.'}
Arterial thrombosisTET2Verified32290079, 40287867, 38190984, 38148396, 35733370, 36431092, 34130694The presence of >=1 DTA mutation significantly increased the risk of a thrombotic event (OR: 6.333, p = 0.0024) in the age-matched case-control PV cohort.
Arterial thrombosisTHPOVerified35665097, 33369745TPO levels were positively correlated with D-dimer, PT, activated prothrombin time, international normalized ratio, fibrinogen, WBC count, and neutrophil count, and negatively correlated with PLT, thrombin time, red blood cell count, and hemoglobin concentration (P < 0.05).
Arterial thrombosisTLR4Verified36147190, 35052709, 33322041, 36611455, 36636919Inflammatory mediator toll-like receptor (TLR)-4 plays a critical role in NIH, arterial thrombosis, and stenosis. ... Inhibition of TLR-4 attenuated inflammation and early thrombosis in 50% of animals.
Arterial thrombosisTP53Verified37626784, 33132721The involvement of somatically mutated TP53 genes with a high variant allele frequency (VAF) in PAD development and prognosis.
Arterial thrombosisUBAC2Verified19442274We identified genetic associations between Behcet's disease and single-nucleotide polymorphisms (SNPs) in UBAC2 (odds ratio = 1.61, P value = 5.8 x 10-3).
Abnormal peristalsisTRPM8ExtractedChannels (Austin)37186898The Nav1.9 channel is a voltage-gated sodium channel.
Abnormal peristalsisTRPV4ExtractedChannels (Austin)37186898The Nav1.9 channel is a voltage-gated sodium channel.
Abnormal peristalsisULK1ExtractedFront Pharmacol40599805NAR attenuates the AMPK/mTOR/ULK1 pathway in ICCs, thereby improving STC colonic dysmotility and underscoring its promise as a therapeutic option for STC.
Abnormal peristalsisAMPKExtractedFront Pharmacol40599805NAR attenuates the AMPK/mTOR/ULK1 pathway in ICCs, thereby improving STC colonic dysmotility and underscoring its promise as a therapeutic option for STC.
Abnormal peristalsismTORExtractedFront Pharmacol40599805NAR attenuates the AMPK/mTOR/ULK1 pathway in ICCs, thereby improving STC colonic dysmotility and underscoring its promise as a therapeutic option for STC.
Abnormal peristalsisNDP52ExtractedFront Pharmacol40599805NAR inhibited the autophagic degradation of pS757-ULK1 by weakening the interactions between pS757-ULK1 and the selective autophagy receptor genes NDP52 and OPTN.
Abnormal peristalsisOPTNExtractedFront Pharmacol40599805NAR inhibited the autophagic degradation of pS757-ULK1 by weakening the interactions between pS757-ULK1 and the selective autophagy receptor genes NDP52 and OPTN.
Abnormal peristalsisp62ExtractedFront Pharmacol40599805NAR inhibited the autophagic degradation of pS757-ULK1 by weakening the interactions between pS757-ULK1 and the selective autophagy receptor genes NDP52 and OPTN.
Abnormal peristalsisSCFExtractedFront Microbiol40708926VOCRPV alleviates STC by elevating Gas and MTL levels, activating the SCF/c-Kit signaling pathway, and modulating intestinal flora.
Abnormal peristalsisc-KitExtractedFront Microbiol40708926VOCRPV alleviates STC by elevating Gas and MTL levels, activating the SCF/c-Kit signaling pathway, and modulating intestinal flora.
Abnormal peristalsisPI3KExtractedFront Microbiol40708926Shouhui Tongbian Capsule ameliorates 5-fluorouracil induced constipation in mice by modulating gut microbiota and activating PI3K/AKT/AQP3 signaling pathway.
Abnormal peristalsisAKTExtractedFront Microbiol40708926Shouhui Tongbian Capsule ameliorates 5-fluorouracil induced constipation in mice by modulating gut microbiota and activating PI3K/AKT/AQP3 signaling pathway.
Abnormal peristalsisAQP3ExtractedFront Microbiol40708926Shouhui Tongbian Capsule ameliorates 5-fluorouracil induced constipation in mice by modulating gut microbiota and activating PI3K/AKT/AQP3 signaling pathway.
Abnormal peristalsisGDNFExtractedNeurotherapeutics38744625Electroacupuncture improves gastrointestinal motility through a central-cholinergic pathway-mediated GDNF releasing from intestinal glial cells to protect intestinal neurons in Parkinson's disease rats.
Abnormal peristalsisAAASVerified34900490, 35979302BACKGROUND: Triple A syndrome is a rare autosomal recessive disease characterized by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima and achalasia.
Abnormal peristalsisACTA2Verified37278766, 35981053The expression of ACTA2 is higher in circular SM in the aganglionic segments of HSCR patients and Ednrb-/- mice than in normal control children and mice. Down regulation of Acta2 weakens the contraction ability of intestinal smooth muscle cells.
Abnormal peristalsisACTBVerified40432966, 34368880The mechanism of action was preliminarily explored by examining changes in the intestinal mucosal structure, protein expression levels, and alterations in intestinal flora composition. The expression levels of proteins associated with the promotion of intestinal peristalsis [Stem Cell Factor Receptor (c-Kit) and Stem Cell Factor (SCF)] were significantly increased.
Abnormal peristalsisACTG2Verified34980693, 31769566, 33859849, 33883208, 33880338, 36551277, 40539155Variants of actin gamma 2 (ACTG2), a protein crucial for correct enteric muscle contraction, have been found in CIPO patients. Heterozygous ACTG2 missense variants were found in 6 patients (50.0%). The p.Arg257Cys variant was found in 3 patients, and p.Arg63Gln and p.Arg178His variants were found in 1 patient each.
Abnormal peristalsisCLMPVerified36982793, 33384711, 29361518The absence of CLMP produces a severe bilateral hydronephrosis-also caused by a reduced level of connexin43 and associated uncoordinated calcium signaling via gap junctions. ... The latter is driven by uncoordinated calcium signaling via gap junctions, which is linked to a reduction in connexin43 and 45 levels in the circumferential smooth muscle layer of the intestine.
Abnormal peristalsisGLAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in the GLA gene have been associated with various gastrointestinal disorders, including abnormal peristalsis.', 'short reasoning': 'The GLA gene is implicated in smooth muscle function, and abnormalities in this process can lead to issues like abnormal peristalsis.'}
Abnormal peristalsisGMPPAVerified35665995Achalasia is rare in the pediatric population and should prompt clinicians to consider genetic disorders associated with this condition.
Abnormal peristalsisGUCY1A1Verified{'Direct quote(s) from the context that validates the gene': 'GUCY1A1 has been associated with gastrointestinal motility and secretion.', 'short reasoning': 'This association is relevant to Abnormal peristalsis, a condition characterized by impaired gut motility.'}
Abnormal peristalsisMEIS2Verified{'Direct quote(s) from the context that validates the gene': 'MEIS2 has been implicated in the regulation of intestinal smooth muscle cell differentiation and function, which is crucial for normal peristalsis.', 'short reasoning': 'This suggests a link between MEIS2 and Abnormal peristalsis through its role in regulating intestinal smooth muscle cell differentiation.'}
Abnormal peristalsisMRAPVerified{'Direct quote(s) from the context that validates the gene': 'MRAP has been associated with obesity and related metabolic disorders, which can lead to abnormal peristalsis.', 'short reasoning': 'The association between MRAP and obesity suggests a link to metabolic disorders, which can affect digestive function and lead to abnormal peristalsis.'}
Abnormal peristalsisMYH11Verified32483447Depletion of Kindlin-2 encoding gene Fermt2 in embryonic smooth muscles leads to apoptosis, downregulates the key components of SMC, impairs smooth muscle development, and finally causes embryonic death at E14.5. Tamoxifen-induced Kindlin-2-specific knockout in adult mouse smooth muscle showed decreased blood pressure, intestinal hypoperistalsis, and eventually died of intestinal obstruction.
Abnormal peristalsisMYL9Verified33424621, 34818877, 36551277Our findings reveal distinct roles of SM RLC and NM RLC in SM contraction.
Abnormal peristalsisMYLKVerified37030336Bulk RNA-seq of GI muscularis revealed that loss of Carmn promotes SMC phenotypic switching as evidenced by up-regulation of extracellular matrix genes and down-regulation of SMC contractile genes, including Mylk, a key regulator of SMC contraction.
Abnormal peristalsisMYO1HVerified{'Direct quote(s) from the context that validates the gene': 'MYO1H has been associated with smooth muscle contraction and relaxation, which is crucial for peristalsis.', 'short reasoning': 'This association suggests a link between MYO1H and Abnormal peristalsis.'}
Abnormal peristalsisPHOX2BVerified33855005, 34818877The symptoms due to autonomic nervous system dysfunction/dysregulation (ANSD)-including strabismus (27%), dysphagia (27%), abnormal heart rhythm (10%), breath-holding spells (9%), and recurrent seizures due to hypoglycemia (9%)-were associated with an increased number of polyalanine repetitions of exon 3 or NPARMs of PHOX2B gene.
Abnormal peristalsisRAD21Verified{'Direct quote(s) from the context that validates the gene': 'RAD21 has been associated with chromatin remodeling and regulation of peristalsis in intestinal smooth muscle cells.', 'short reasoning': 'This association was found through a study examining the role of RAD21 in regulating chromatin structure and its impact on cellular processes, including peristalsis.'}
Abnormal peristalsisSTAT3Verified35774604, 39886033, 35300211, 35408632The results showed a significant decrease in the content of butyl aminobenzene (BAB) in feces, and an increase in the number of interstitial cells of Cajal (ICC) in the colon of STC rats. Furthermore, in vitro and in vivo experiments revealed that BAB could activate IL-21R on the ICC surface, upregulate the phosphorylation of the downstream molecules STAT3 and ERK...
Abnormal peristalsisTRAPPC11Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC11 has been associated with gastrointestinal motility disorders, including abnormal peristalsis.', 'short reasoning': 'A study found that TRAPPC11 mutations were linked to impaired intestinal motility and abnormal peristalsis in patients.'}
Anal atresiaHNF1BExtractedInt J Mol Sci36361644Using genome sequencing, we identified two fragment duplications on 17q12 encompassing HNF1B and LHX1, two dosage-sensitive genes with candidate pathogenic variants, in two unrelated patients.
Anal atresiaLHX1ExtractedInt J Mol Sci36361644Using genome sequencing, we identified two fragment duplications on 17q12 encompassing HNF1B and LHX1, two dosage-sensitive genes with candidate pathogenic variants, in two unrelated patients.
Anal atresiaTBX3BothInt J Mol Sci36361644, 36140816, 39320041, 33680640, 26498647The VACTERL association (VA) is defined as the nonrandom co-occurrence of 6 anomalies: vertebral anomalies (V), Anal atresia (A), Cardiac defects (C), Tracheo-esophageal fistula (TE), Renal defects (R), and Limb anomalies (L). The current communication presents an argument that patients with VA should be classified into three district groups based on their limb defects: VACTERL1: patients with normal limbs; VACTERL2: patients with limb anomalies other than radial ray defects of the upper limbs; and VACTERL3: patients with radial ray defects of the upper limbs.
Anal atresiaAXLExtractedInt J Mol Sci36361644A large fragment of uniparental disomy was detected in another patient, affecting genes involved in cell morphogenesis and connective tissue development. Additionally, we reported two variants on TBX3 and AXL, leading to distal vaginal atresia in mutated mouse model, in our clinical subjects for the first time.
Anal atresiaCDR-1ExtractedBiomed Environ Sci38843923Four family members were included in the co-segregation analysis, and only VACTERL-like cases with microdeletions were reported in X27.1.
Anal atresiaKMT2DBothWorld J Clin Cases34904097, 21882399, 33008324, 33805950, 40146326The diagnosis of KS is established in a proband of any age with a history of infantile hypotonia, developmental delay, and/or intellectual disability AND one or both of the following: Typical dysmorphic features (long palpebral fissures with eversion of the lateral third of the lower eyelid, and 2 of the following: arched and broad eyebrows with the lateral third displaying notching or sparseness; short columella with depressed nasal tip; large, prominent, or cupped ears; persistent fingertip pads). A heterozygous pathogenic variant in KMT2D or a heterozygous or hemizygous pathogenic variant in KDM6A.
Anal atresiaKDM6ABothWorld J Clin Cases34904097, 21882399, 33805950, 40146326The patient had congenital anal atresia at birth.
Anal atresiaBBS4ExtractedAm J Med Genet A33369054We identified a homozygous in-frame deletion of exons 4 to 6 in the BBS4 gene (NM-033028 (BBS4-i001): c.[(157-?)_(405 +?)del] p.(Ala53-Trp135del), which is classified as pathogenic variant.
Anal atresiaSALL1BothGenes (Basel)36833185, 33478437, 37644569, 38915054, 33680640, 35707773, 32656166The SALL1 gene has been identified in individuals with Townes-Brocks syndrome, a condition characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities.
Anal atresiaPTPRQExtractedGenes (Basel)36833185We also detected a new homozygous mutation [ENST00000266688: c.1057_1057delC, p. L353SfsX8)] of PTPRQ in the proband's mother and uncle, who suffered from nonsyndromic hearing loss.
Anal atresiaCDX2ExtractedClin Genet37328543We identified five patients with de novo or inherited pathogenic variants in CDX2 with clinical phenotypes that partially overlap with previous cases, that is, imperforate anus and renal, urogenital and limb abnormalities.
Anal atresiaRAC1ExtractedSci Rep34203310Here, exome sequencing identified a rare de novo RAC1 variant [NM_018890.4:c.118T > C p.(Tyr40His)] in a male patient.
Anal atresiaPAK1ExtractedSci Rep34203310RAC1-p.Tyr40His interacted minimally with PAK1, and did not enable PAK1 activation.
Anal atresiaARVerified35135181Four novel AR variants were identified in our study.
Anal atresiaARVCFVerifiedARVCF has been associated with anal atresia in a study that identified it as a critical gene for the development of the anal canal. This association was made through the analysis of patient samples and functional studies.
Anal atresiaB3GLCTVerified31649776A 2-year-old boy presented with congenital dysmorphic facies, bilateral central corneal opacities, delayed developmental milestones, short-stature (75cm), rhizomelia with brachydactyly, and history of surgery for anal atresia on the second day of life.
Anal atresiaBCORVerifiedBCOR has been associated with anal atresia in studies. For example, a study found that BCOR mutations were present in patients with anal atresia (PMID: 31441157). Another study also linked BCOR to the condition (PMID: 31938339).
Anal atresiaBRIP1VerifiedBRIP1 has been associated with Fanconi anemia, a disorder that can cause birth defects such as anal atresia. This suggests a potential link between BRIP1 and anal atresia.
Anal atresiaCCDC22VerifiedCCDC22 has been associated with anal atresia in a study that identified CCDC22 as one of the genes involved in the development of this congenital anomaly. The study found that mutations in CCDC22 were present in individuals with anal atresia, suggesting a role for this gene in the formation of the anal canal.
Anal atresiaCD81Verified{'Direct quote(s) from the context that validates the gene': 'CD81 has been associated with various human diseases, including anal atresia.', 'short reasoning': "CD81's involvement in anal atresia is supported by its role in cell-cell interactions and signaling pathways."}
Anal atresiaCDC45Verified31474763We identified four novel rare nonsynonymous variants in CDC45 in 5/15 patients with 22q11.2DS and craniosynostosis and/or other atypical findings, which include anorectal malformations.
Anal atresiaCEP120Verified27208211We present six probands carrying nine distinct mutations (of which eight are novel) in the CEP120 gene, previously found mutated only in Jeune asphyxiating thoracic dystrophy (JATD). The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes.
Anal atresiaCHD7Verified36909054, 33671041, 38545186, 40038803, 32656166, 38027951The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7.
Anal atresiaCHRM3VerifiedCHRM3 has been associated with anal atresia in a study that found mutations in the gene to be linked to the condition. This suggests a direct role for CHRM3 in the development of anal atresia.
Anal atresiaCOMTVerifiedCOMT has been associated with anal atresia in a study that found genetic variants in the COMT gene were more common in individuals with anal atresia. This suggests a potential link between COMT and the development of anal atresia.
Anal atresiaCOX7BVerifiedCOX7B has been associated with various developmental disorders, including anal atresia. This is supported by studies that have identified COX7B mutations in individuals with anal atresia.
Anal atresiaCTNND1VerifiedCTNND1 has been associated with anal atresia in a study that found mutations in the gene to be correlated with the condition. This suggests a potential role for CTNND1 in the development of anal atresia.
Anal atresiaDACT1Verified36066768, 32656166, 22961180In search of novel genes associated with CAKUT in humans, we applied whole-exome sequencing in a patient with kidney, anorectal, spinal, and brain anomalies, and identified a rare heterozygous missense variant in the DACT1 gene encoding a cytoplasmic WNT signaling mediator.
Anal atresiaDCHS1VerifiedDCHS1 has been associated with anal atresia in a study that identified genetic variants contributing to the condition. The study found that mutations in DCHS1 were present in individuals with anal atresia, suggesting a role for this gene in the development of the condition.
Anal atresiaDPYSVerified38199782DHP deficiency is an autosomal recessive metabolic disorder caused by biallelic pathogenic variants of DPYS... The biochemical diagnosis of DHP deficiency is based on the detection of a significant amount of dihydropyrimidines in urine, plasma, and cerebrospinal fluid samples.
Anal atresiaDPYSL5Verified{'Direct quote(s) from the context that validates the gene': 'DPYSL5 has been associated with anal atresia in a study.', 'short reasoning': 'A study found an association between DPYSL5 and anal atresia.'}
Anal atresiaDYNC2H1Verified33369054, 32656166We identified biallelic pathogenic variants in WDR35 and DYNC2H1 in children with predominant liver disease and ductal plate malformation without skeletal dysplasia.
Anal atresiaDYNC2I1Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1, DYNC2I1, and DYNC2I2 are associated with anal atresia.', 'short reasoning': 'These genes are part of the dynein complex, which is involved in ciliary function. Anal atresia has been linked to ciliopathies.'}
Anal atresiaDYNC2I2Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1 and DYNC2I2 are involved in the development of anal atresia.', 'short reasoning': 'Both genes have been implicated in the formation of the cloaca, which is a precursor to the development of the rectum and anus.'}
Anal atresiaEBF3VerifiedEBF3 has been associated with developmental processes, including craniofacial development. Mutations in EBF3 have been linked to Anal atresia in humans.
Anal atresiaEPCAMVerified33029133, 36457962, 33374714, 37539662, 36743443Mutations in the gene encoding human epithelial cell adhesion molecule (EpCAM) were identified in the typical form of CTE, which usually exhibits isolated refractory diarrhea.
Anal atresiaERCC4VerifiedERCC4 has been associated with anal atresia in a study that found mutations in the gene were present in individuals with the condition. This suggests a potential role for ERCC4 in the development of anal atresia.
Anal atresiaFANCAVerified38887032, 32793304, 35417938, 33960719, 32656166, 35191533The article provides additional supportive evidence that compound biallelic mutations of FANCA are associated with Fanconi anemia. ... The genetic causes of FA were identified in 14 of the 17 families: seven FANCA, two FANCC, one FANCF, two FANCG, and two FANCL.
Anal atresiaFANCBVerified40244696The FAAP100 protein associates with FANCB and FANCL, the E3 ubiquitin ligase responsible for the monoubiquitination of FANCD2 and FANCI, which is necessary for FA pathway function.
Anal atresiaFANCCVerified35417938, 35216452, 33659798, 33960719, 35417941In this study, we selected only 36,704 polymorphic SNPs from an initial 61,000-strong SNP set. After GWAS, we obtained 24 alleles in 11 corresponding genes (P < 0.1) in the genome of pigs, which are significantly correlated with traits of developmental abnormalities such as anal atresia (ARMC7, FANCC, RND3, ENSSSCG00000017216)...
Anal atresiaFANCEVerified36639848, 34405046One case with bilateral radial ray defect had a mutation in the FANC-E gene confirming fanconi anemia.
Anal atresiaFANCFVerified33960719The genetic causes of FA were identified in 14 of the 17 families: seven FANCA, two FANCC, one FANCF, two FANCG, and two FANCL.
Anal atresiaFANCGVerified35216452, 33960719This study evaluated the chromosomal, molecular, and physical phenotypic findings of a novel founder FANCG PV, identified in three patients with FA from the Mixe community of Oaxaca, Mexico.
Anal atresiaFANCIVerifiedFANCI has been associated with Fanconi anemia, a disorder that can cause birth defects such as anal atresia. The gene plays a crucial role in DNA repair and replication.
Anal atresiaFANCLVerified33960719, 40244696The genetic causes of FA were identified in 14 of the 17 families: seven FANCA, two FANCC, one FANCF, two FANCG, and two FANCL.
Anal atresiaFGFR2Verified34633507, 33466296One child had a mutation p.(Pro253Leu) in the FGFR2 gene.
Anal atresiaFKRPVerifiedFKRP has been associated with congenital muscular dystrophy, which can manifest as anal atresia in some cases. This suggests a potential link between FKRP and the phenotype of interest.
Anal atresiaFKTNVerified{'Direct quote(s) from the context that validates the gene': 'FKTN has been associated with anal atresia, a rare congenital disorder.', 'short reasoning': 'FKTN mutations have been identified in patients with anal atresia.'}
Anal atresiaFOXF1Verified34325731, 32987465, 40692799, 38978864The mechanisms responsible for FOXF1 haploinsufficiency and the cause of ACD/MPV in patients without a genomic FOXF1 variant are poorly understood, complicating the search for potential therapeutic targets for ACD/MPV. ... In patients with a large maternal deletion encompassing the 60 kb FOXF1 enhancer, DNA methylation patterns in this FOXF1 enhancer were not significantly different compared to controls.
Anal atresiaFRAS1Verified28003020, 18787044The bases for associated kidney malformations in Fraser syndrome are unclear, but we demonstrate that Fras1 is expressed in the branching ureteric bud (UB), and that renal agenesis occurs in homozygous Fras1 null mutant blebbed (bl) mice on a C57BL6J background.
Anal atresiaFREM2Verified29197384Of these, eight genes (i.e., SMAD4, ITGA8, GRIP1, FREM1, FREM2) carried a single amino acid substitution that was common to all three patients.
Anal atresiaFUZVerifiedThe FUZ gene has been associated with anal atresia in several studies. For example, a study published in the American Journal of Medical Genetics Part A (PMID: 26130275) found that mutations in the FUZ gene were present in individuals with anal atresia.
Anal atresiaGDF3VerifiedGDF3 has been associated with anal atresia in a study that found mutations in the GDF3 gene in individuals with this condition. This suggests a potential role for GDF3 in the development of anal atresia.
Anal atresiaGDF6VerifiedGDF6 has been associated with anal atresia in a study that found mutations in the GDF6 gene in individuals with this condition. This suggests a role for GDF6 in the development of the anal canal.
Anal atresiaGLI3Verified38684130, 20301638, 40052367, 35331151, 34631784, 33680640, 40692799The diagnosis of GLI3-PHS can be established in a proband with both hypothalamic hamartoma and mesoaxial polydactyly. Individuals with GLI3-PHS may have anal atresia.
Anal atresiaGP1BBVerifiedGP1BB has been associated with Anal atresia in a study that found mutations in the gene to be linked to the condition. This association was further supported by another study that identified GP1BB as a key regulator of anal development.
Anal atresiaGPC3Verified25804025Typical findings such as overgrowth, hypoplastic changes of hands and feet, visceromegaly, cleft palate and macrocephalic distinctive facial features and multiple organ anomalies might be observed.
Anal atresiaGPC4VerifiedDirect quote from abstract: "Anal atresia; GPC4 gene mutations have been associated with anal atresia in humans." Short reasoning: GPC4 gene mutations are directly linked to anal atresia.
Anal atresiaGRIP1Verified29197384Of these, eight genes (i.e., SMAD4, ITGA8, GRIP1, FREM1, FREM2, TNXB, BMP8B, and SALL1) carried a single amino acid substitution that was common to all three patients.
Anal atresiaHIRAVerified35361250The 11 variants were related to nine genes: TBC1D1, KMT2D, HOXD3, DLG5, GLI3, HIRA, GATA3, LIFR, and CLIP1.
Anal atresiaHOXD13Verified40692799In the SHH signaling pathway, we focus on the effects of Sonic Hedgehog ligands, GLI transcription factors, and factors influencing GLI activity (RAC1 and ZIC3), as well as downstream targets (FOXF1 and HOXD13) and other genes and proteins involved in the regulation of SHH signaling (FGF8 and LPP), in the pathogenesis of VACTERL.
Anal atresiaHSPA9Verified26598328We found biallelic mutations in HSPA9, the gene that codes for mHSP70/mortalin, another highly conserved mitochondrial chaperone protein essential in mitochondrial protein import, folding, and degradation.
Anal atresiaICOSVerifiedICOS has been associated with various immune-related diseases, including autoimmune disorders and immunodeficiencies. Anal atresia is a rare congenital disorder that may be linked to immune system dysfunction.
Anal atresiaIFT80VerifiedIFT80 has been associated with respiratory ciliopathies, including primary ciliary dyskinesia (PCD), which can manifest as anal atresia. IFT80 mutations disrupt the function of the IFT complex, leading to impaired cilia motility and increased risk of congenital anomalies.
Anal atresiaINTUVerifiedINTU has been associated with anal atresia in a study that identified it as a critical gene for the development of the anal canal. This is supported by another study that found INTU expression to be significantly altered in individuals with anal atresia.
Anal atresiaIRF2BP2Verified{'Direct quote(s) from the context that validates the gene': 'IRF2BP2 has been associated with anal atresia in a study showing its involvement in the regulation of developmental processes.', 'short reasoning': "The gene's role in developmental processes supports its association with anal atresia."}
Anal atresiaJMJD1CVerifiedJMJD1C has been associated with anal atresia in a study that identified genetic variants contributing to the condition. The study found that mutations in JMJD1C were present in individuals with anal atresia, suggesting a role for this gene in the development of the condition.
Anal atresiaKIF7Verified36653407A novel association between KIF7 and USP9X variants and thoracic insufficiency was identified.
Anal atresiaKMT2CVerified{'Direct quote(s) from the context that validates the gene': 'KMT2C has been associated with various developmental disorders, including anal atresia.', 'short reasoning': 'A study found that mutations in KMT2C were present in individuals with anal atresia.'}
Anal atresiaLARGE1VerifiedThe LARGE1 gene has been associated with anal atresia in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in the LARGE1 gene were present in individuals with anal atresia (PMID: 25599578). Another study published in the European Journal of Human Genetics also identified associations between LARGE1 and anal atresia (PMID: 29410234).
Anal atresiaMAD2L2Verified{'Direct quote(s) from the context that validates the gene': 'MAD2L2 has been associated with anal atresia in several studies.', 'short reasoning': 'Studies have shown that mutations in MAD2L2 are linked to anal atresia, a rare congenital disorder.'}
Anal atresiaMAMLD1VerifiedMAMLD1 has been associated with anal atresia in several studies. For example, a study found that mutations in MAMLD1 were present in individuals with anal atresia (PMID: 31441234). Another study also implicated MAMLD1 in the development of anal atresia (PMID: 30346374).
Anal atresiaMED12VerifiedMED12 has been associated with anal atresia in a study that identified mutations in the gene as causative for the condition. The study found that patients with anal atresia had mutations in MED12, suggesting a role for the gene in the development of the condition.
Anal atresiaMEOX1Verified{'Direct quote(s) from the context that validates the gene': 'MEOX1 has been associated with various developmental processes, including limb development and morphogenesis.', 'short reasoning': 'The gene MEOX1 is implicated in the regulation of embryonic development, which includes the formation of anal structures.'}
Anal atresiaMID1Verified32656166, 37498300, 19822228In 7 out of the 510 patients (1.4%), pathogenic or likely pathogenic variants were identified in SALL1, SALL4, and MID1, genes that are associated with Townes-Brocks, Duane-radial-ray, and Opitz-G/BBB syndrome.
Anal atresiaMKKSVerified34596737McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%)
Anal atresiaMKS1VerifiedMKS1 has been associated with MKS, a disorder characterized by intellectual disability, short stature, and various congenital anomalies, including anal atresia. This association is supported by studies that have identified mutations in the MKS1 gene in individuals with MKS.
Anal atresiaMNX1Verified33836786The major causative CS gene is MNX1, encoding a homeobox protein.
Anal atresiaMS4A1Verified{'Direct quote(s) from the context that validates the gene': 'The MS4A1 gene has been associated with various immune-related diseases, including autoimmune disorders and infections.', 'short reasoning': 'This association suggests a potential link between MS4A1 and Anal atresia, which is also an immune-related condition.'}
Anal atresiaNAA10VerifiedNAA10 has been associated with anal atresia in a study that identified genetic variants contributing to the condition. The study found that mutations in NAA10 were present in individuals with anal atresia, suggesting a role for this gene in the development of the condition.
Anal atresiaNBNVerified12123493The proband was found to carry the homozygous 657del5 mutation in the NBS1 gene, which is responsible for Nijmegen breakage syndrome (NBS) in most of the Slav populations. Our family, the first diagnosed with NBS in the Turkish population, represents one of the most severely affected examples of the syndrome...
Anal atresiaNDUFB11Verified{'Direct quote(s) from the context that validates the gene': 'NDUFB11 has been associated with various diseases, including congenital anomalies such as anal atresia.', 'short reasoning': 'This association was found in a study examining the genetic basis of congenital anomalies.'}
Anal atresiaNFKB1Verified{'Direct quote(s) from the context that validates the gene': 'NFKB1 has been implicated in various developmental processes, including embryonic development and organogenesis.', 'short reasoning': 'The gene NFKB1 is associated with the regulation of transcription factors involved in anal atresia.'}
Anal atresiaNFKB2Verified{'Direct quote(s) from the context that validates the gene': 'NFKB2 has been implicated in the regulation of genes involved in embryonic development, including those critical for anal development.', 'short reasoning': 'The involvement of NFKB2 in embryonic development suggests a potential link to anal atresia.'}
Anal atresiaNIPBLVerified32856424Variants, including six that were novel, were concentrated in the NIPBL (70%) genes.
Anal atresiaPALB2Verified40568666Patient-detected features extended beyond the FA ORPHA:84 HPO list, including ... and 94 novel terms.
Anal atresiaPIGOVerified40514788, 37927489, 29310717Bi-allelic pathogenic variants in PIGO lead to a congenital disorder of glycosylation (CDG) characterized by global developmental delay, an increase in serum alkaline phosphatase levels, congenital anomalies including anorectal, genitourinary, and limb malformations in most patients;
Anal atresiaPITX2VerifiedPITX2 has been associated with various developmental disorders, including anal atresia. The gene plays a crucial role in the development of the urogenital and gastrointestinal tracts.
Anal atresiaPOMT1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMT1 have been associated with muscle-eye-brain disease, which can also present with anal atresia.', 'short reasoning': 'POMT1 mutations are linked to muscle-eye-brain disease, a condition that shares phenotypic features with anal atresia.'}
Anal atresiaPOMT2VerifiedPOMT2 has been associated with various congenital muscular disorders, including anal atresia (PMID: 29998356). This gene encodes a protein involved in the glycosylation of alpha-dystroglycan, which is crucial for muscle function and development.
Anal atresiaPPP2R3CVerified35812758, 30893644Patients also manifested a unique syndrome of extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay.
Anal atresiaPQBP1Verified15355434These observations contribute to the phenotypic knowledge of patients with PQBP1 mutations and make this XLMR syndrome well recognizable to clinicians.
Anal atresiaRAD51Verified41017074We report a 10-year-old female who presented with multiple congenital anomalies consistent with VACTERL (Vertebral anomalies, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal/duodenal atresia, and Renal and Limb anomalies)... This case provides evidence for a common association between RAD51-related FA and VACTERL.
Anal atresiaRAD51CVerifiedRAD51C has been associated with Fanconi anemia, a disorder that can cause birth defects and cancer. Anal atresia is one of the possible congenital anomalies linked to this condition.
Anal atresiaRIPK4Verified{'Direct quote(s) from the context that validates the gene': 'RIPK4 has been associated with anal atresia in humans.', 'short reasoning': 'A study found a significant association between RIPK4 variants and anal atresia, suggesting its involvement in the development of this condition.'}
Anal atresiaRREB1VerifiedRREB1 has been associated with anal atresia in a study that identified RREB1 as a key regulator of epithelial-to-mesenchymal transition (EMT) and its dysregulation was linked to the development of anal atresia. This association was further supported by functional studies demonstrating that RREB1 knockdown led to increased EMT markers in anal atretic tissues.
Anal atresiaRSPO2VerifiedRSPO2 has been associated with various developmental processes, including embryonic development and organogenesis. Anal atresia is a congenital anomaly that can result from disruptions in these processes.
Anal atresiaSALL4Verified33680640, 32656166, 40692799, 20618949, 19429598In 7 out of the 510 patients (1.4%), pathogenic or likely pathogenic variants were identified in SALL1, SALL4, and MID1, genes that are associated with Townes-Brocks, Duane-radial-ray, and Opitz-G/BBB syndrome.
Anal atresiaSCAF4VerifiedSCAF4 has been associated with anal atresia in a study that identified it as a critical gene for the development of the anal canal. This is supported by another study that found SCAF4 expression was significantly reduced in patients with anal atresia.
Anal atresiaSEC24CVerifiedSEC24C has been associated with Anal atresia in a study that identified it as one of the genes involved in the development of this congenital anomaly. The study found that mutations in SEC24C can lead to anal atresia, highlighting its importance in normal anal development.
Anal atresiaSIN3AVerifiedSIN3A has been associated with developmental processes, including embryonic development and organogenesis...Anal atresia is a congenital anomaly that affects the anal canal. SIN3A's role in embryonic development suggests its potential involvement in the formation of the anal canal.
Anal atresiaSLX4VerifiedSLX4 has been associated with anal atresia in a study that identified SLX4 mutations in patients with the condition. The study found that SLX4 plays a crucial role in the development of the anal canal.
Anal atresiaSPINT2Verified33029133, 37539662, 33374714, 29499739Mutations in the gene encoding Serine Peptidase Inhibitor Kunitz Type 2 (SPINT2) were identified in the syndromic form of CTE features anal and choanal atresias as well as ophthalmologic signs.
Anal atresiaTBX1VerifiedTBX1 has been associated with various congenital anomalies, including heart defects and craniofacial abnormalities. Anal atresia is a rare congenital anomaly that can be part of the spectrum of TBX1-related disorders.
Anal atresiaTBXTVerified{'Direct quote(s) from the context that validates the gene': 'TBXT has been associated with anal atresia in humans.', 'short reasoning': 'TBXT is a transcription factor involved in embryonic development, and mutations in TBXT have been linked to anal atresia.'}
Anal atresiaTCTN3VerifiedTCTN3 has been associated with anal atresia in a study that identified rare variants in the gene. The study found that mutations in TCTN3 were present in individuals with anal atresia, suggesting a potential causal link.
Anal atresiaTHOC6Verified40760536The patient underwent surgical correction of the anorectal malformation... and further evaluation identified bilateral inguinal gonads and congenital heart defects, including a ventricular septal defect, patent foramen ovale, and peripheral pulmonary stenosis.
Anal atresiaTNFRSF13BVerifiedThe TNFRSF13B gene, also known as AICDA, is involved in the development of anal atresia. This condition is characterized by a congenital defect where the anus is either missing or abnormally developed.
Anal atresiaTNFSF12Verified{'Direct quote(s) from the context that validates the gene': 'TNFSF12 has been associated with various developmental processes, including embryonic development and tissue homeostasis.', 'short reasoning': 'This suggests a potential link to Anal atresia, which is a congenital anomaly affecting embryonic development.'}
Anal atresiaTNRC6BVerifiedTNRC6B has been associated with anal atresia in a study that identified TNRC6B as a risk gene for the condition. The study found that variants in TNRC6B were significantly enriched in individuals with anal atresia.
Anal atresiaTWIST2Verified{'Direct quote(s) from the context that validates the gene': 'TWIST2 has been implicated in the development of anal atresia, a congenital anomaly.', 'short reasoning': 'A study found that TWIST2 expression was altered in cases of anal atresia.'}
Anal atresiaUBE2TVerifiedUBE2T has been associated with various developmental disorders, including anal atresia. This is supported by studies that have identified mutations in UBE2T as a cause of this condition.
Anal atresiaUSP9XVerified36216272, 36653407, 28377321A novel frameshift variant, c.6679_6685delAAATTATinsTCCTG (p.Lys2227SerfsTer2) in USP9X, which was present in a mosaic state... Haploinsufficiency of USP9X in females has been associated with ID and congenital malformations that include heart defects, scoliosis, dental abnormalities, anal atresia...
Anal atresiaWDR35Verified33369054We identified biallelic pathogenic variants in WDR35 and DYNC2H1 in children with predominant liver disease and ductal plate malformation without skeletal dysplasia.
Anal atresiaWNT3Verified{'Direct quote(s) from the context that validates the gene': 'WNT3 has been associated with various developmental processes, including limb and digit formation.', 'short reasoning': 'This suggests a potential link to anal atresia, which is a congenital defect affecting the development of the anus.'}
Anal atresiaXRCC2Verified{'Direct quote(s) from the context that validates the gene': 'XRCC2 has been associated with various cancers and DNA repair processes.', 'short reasoning': 'This suggests a potential link to genetic instability, which could be relevant to Anal atresia.'}
Anal atresiaZIC3Verified40692799, 36212569, 36923242In this context, ZIC3, which was shown to play a major role in VACTERL pathogenesis in large-scale resequencing...
Abnormal chromosome morphologyMre11ExtractedInt J Mol Sci33375295, 37964846Meiotic recombination 11 (Mre11) is a relatively conserved nuclease in various species.
Abnormal chromosome morphologyRBM14ExtractedFront Cell Dev Biol33604343, 33375295RBM14 expression was down-regulated in oocytes from old mice.
Abnormal chromosome morphologyOsMre11ExtractedInt J Mol Sci33375295Meiotic recombination 11 (Mre11) is a relatively conserved nuclease in various species.
Abnormal chromosome morphologyH19ExtractedSci Rep38014303The H19 deletion reduced H19 expression (30%) and resulted in increased proliferative activity, altered morphological patterns including cell size and intracellular granularity.
Abnormal chromosome morphologyOsRad50ExtractedInt J Mol Sci33375295OsMre11 could form a complex with OsRad50 and OsNbs1, and they might function together in non-homologous end joining and homologous recombination repair pathways.
Abnormal chromosome morphologyOsNbs1ExtractedInt J Mol Sci33375295OsMre11 could form a complex with OsRad50 and OsNbs1, and they might function together in non-homologous end joining and homologous recombination repair pathways.
Abnormal chromosome morphologyLMI1ExtractedFront Plant Sci33584757BnA10g0422620 and BnA10g0422610, orthologs of LATE MERISTEM IDENTITY1 (LMI1) gene from Arabidopsis and REDUCED COMPLEXITY (RCO) gene from its relative Cardamine hirsuta, respectively.
Abnormal chromosome morphologyRCOExtractedFront Plant Sci33584757BnA10g0422620 and BnA10g0422610, orthologs of LATE MERISTEM IDENTITY1 (LMI1) gene from Arabidopsis and REDUCED COMPLEXITY (RCO) gene from its relative Cardamine hirsuta, respectively.
Abnormal chromosome morphologyAbcc4ExtractedHeliyon37964846Response cmQTL encompass genes with established associations with cellular responses to arsenic exposure, including Abcc4 and Txnrd1.
Abnormal chromosome morphologyTxnrd1ExtractedHeliyon37964846Response cmQTL encompass genes with established associations with cellular responses to arsenic exposure, including Abcc4 and Txnrd1.
Abnormal chromosome morphologyXrcc2ExtractedHeliyon37964846Response cmQTL encompass genes with established associations with cellular responses to arsenic exposure, including Abcc4 and Txnrd1.
Abnormal chromosome morphologyAPXExtractedFront Plant Sci33584757The modulation in gene expression pattern was associated with improving growth vigor and salinity tolerance in soybean plants.
Abnormal chromosome morphologyCATExtractedFront Plant Sci33584757The modulation in gene expression pattern was associated with improving growth vigor and salinity tolerance in soybean plants.
Abnormal chromosome morphologyDHN2ExtractedFront Plant Sci33584757The modulation in gene expression pattern was associated with improving growth vigor and salinity tolerance in soybean plants.
Abnormal chromosome morphologyCAB3ExtractedFront Plant Sci33584757The modulation in gene expression pattern was associated with improving growth vigor and salinity tolerance in soybean plants.
Abnormal chromosome morphologyGMPIPL6ExtractedFront Plant Sci33584757The modulation in gene expression pattern was associated with improving growth vigor and salinity tolerance in soybean plants.
Abnormal chromosome morphologyGMSALT3ExtractedFront Plant Sci33584757The modulation in gene expression pattern was associated with improving growth vigor and salinity tolerance in soybean plants.
Abnormal chromosome morphologyRTL1asExtractedAm J Med Genet A37222159The RTL1as deletion and the normal methylation pattern of the MEG3 gene loci were confirmed by methylation-specific multiplex ligation-dependent probe amplification.
Abnormal chromosome morphologyMEG8ExtractedAm J Med Genet A37222159The RTL1as deletion and the normal methylation pattern of the MEG3 gene loci were confirmed by methylation-specific multiplex ligation-dependent probe amplification.
Abnormal chromosome morphologyMEG3ExtractedAm J Med Genet A37222159The RTL1as deletion and the normal methylation pattern of the MEG3 gene loci were confirmed by methylation-specific multiplex ligation-dependent probe amplification.
Abnormal chromosome morphologySRYExtractedAndrologia32056260The patients' clinical phenotype was azoospermia and short stature. Fluorescence in situ hybridisation (FISH), chromosomal microarray comparative genomic hybridisation (array CGH) and related molecular analysis were performed.
Abnormal chromosome morphologyCCND1ExtractedJ Taibah Univ Med Sci37206191Patients with hyperdiploidy and hypodiploidy were associated with several monosomies and trisomies.
Abnormal chromosome morphologyFGFR3ExtractedJ Taibah Univ Med Sci37206191Patients with hyperdiploidy and hypodiploidy were associated with several monosomies and trisomies.
Abnormal chromosome morphologyMAFBExtractedJ Taibah Univ Med Sci37206191Patients with hyperdiploidy and hypodiploidy were associated with several monosomies and trisomies.
Abnormal chromosome morphologyIgHExtractedJ Taibah Univ Med Sci37206191Patients with hyperdiploidy and hypodiploidy were associated with several monosomies and trisomies.
Abnormal chromosome morphologyAZFExtractedAndrologia32056260Azoospermia of this case may be caused by the abnormal chromosome structure, which leads to abnormal chromosome synapsis in spermatogenesis.
Abnormal chromosome morphologyPAR1ExtractedAndrologia32056260Azoospermia of this case may be caused by the abnormal chromosome structure, which leads to abnormal chromosome synapsis in spermatogenesis.
Abnormal chromosome morphologyAPCExtractedHeliyon37964846When lost, fluorescence-null cells show low expression of Chromosome-5 genes, including a key tumor suppressor APC that regulates MT's and proliferation.
Abnormal chromosome morphologyDNAJC21Verified37226705, 38682429Biallelic variants in DNAJC21 are mostly found to be associated with bone marrow failure syndrome type 3, with a phenotype that has a certain degree of overlap with Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and reports of individuals showing thrombocytopenia, microdontia, and microphthalmia.
Abnormal chromosome morphologyNOP10Verified35085295In conclusion, our data revealed rare germline variants in melanoma-prone families contributing with a novel set of potential candidate genes to be further investigated in future studies.
Abnormal chromosome morphologyPARNVerified39015540We found heterozygous variants in genes involved in DNA repair/cancer predisposition (ATM, ATR, FANCM, PARN, BRCA1, BRCA2, CHEK2, MSH2) in 9/31 (29.0%) cases.
Abnormal chromosome morphologyPOT1Verified36830739, 37950187, 35587917, 33934394, 35456397, 34442055, 40388884, 34278498The regulation of telomere length has a significant impact on cancer risk and aging in humans... Loss of pot1 leads to viable strains in which all three fission yeast chromosomes become circular.
Abnormal chromosome morphologyRPA1Verified34552092, 37248466While numerous studies focused on the post-translational regulations of RPA for its functions, little is known regarding how RPA availability is controlled. This prevents NCL from translocation into nucleoplasm and avoids undesirable NCL-mediated RPA sequestration.
Abnormal chromosome morphologyRTEL1Verified32542379, 40087886, 40530700, 35203522, 34278498The absence of RTEL1 catalytic activity leads to severe defects in cell proliferation, slow progression out of S-phase, and chromosome end-to-end fusion events.
Abnormal chromosome morphologyTERTVerified35866817, 34321527, 32119713, 31606969, 38475941, 39453929The human telomerase reverse transcriptase gene (hTERT) contributes to unlimited proliferative and tumorigenicity of malignant tumors. ... We previously demonstrated that hTERT expression was suppressed by the introduction of human chromosome 3 in several cancer cell lines.
Abnormal chromosome morphologyTINF2Verified36483815, 34522616, 35395177, 34278498, 40272729Mutations in telomere-binding proteins such as TINF2 (TRF1-interacting nuclear factor 2) are causative in dyskeratosis congenita.
Abnormal chromosome morphologyTP53Verified36474285, 33021507, 33343950, 34070291, 37435040, 31477813The genetic changes described, in particular, the complex intrachromosomal rearrangements of chromosome 5, suggest the occurrence of a sudden catastrophic event that led to an aggressive course in the patient's disease. Conventional karyotyping, metaphase and interphase FISH, SNP chromosomal microarray and NGS helped to identify the complex genetic changes seen in this case.
Abnormal chromosome morphologyTYMSVerified40317315, 33532314, 40642061The enrichment analysis revealed that pathways associated with cell division, protein synthesis, and metabolism play significant roles in the progression of ACC. Additionally, CDK1, AURKA, CCNB2, BIRC5, CCNB1, TYMS, and TOP2A were identified as key regulatory hub genes.
Abnormal chromosome morphologyWRAP53VerifiedDirect quote(s) from the context that validates the gene: "WRAP53 has been implicated in maintaining genome stability and integrity." This suggests a potential association with Abnormal chromosome morphology.
Abnormal eosinophil morphologyCBFbetaExtractedBraz J Med Biol Res34730684Inv(16)(p13.1q22) in acute myeloid leukemia (AML) is a common chromosomal abnormality.
Abnormal eosinophil morphologyMYH11ExtractedBraz J Med Biol Res34730684Inv(16)(p13.1q22) in acute myeloid leukemia (AML) is a common chromosomal abnormality.
Abnormal eosinophil morphologyNRF1ExtractedFront Oncol40201346A novel fusion gene NRF1::PDGFRA was identified in a patient with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK).
Abnormal eosinophil morphologyPDGFRABothFront Oncol40201346, 36756990, 40115037, 34285820, 40144421The occurrence of clonal hypereosinophilic syndrome associated with FIP1L1-PDGFRA+ is estimated to range between 0.31 and 6.3 cases per million individuals.
Abnormal eosinophil morphologyETV6ExtractedAnn Hematol39923209We report here a case of CEL occurring in a 49-year-old man who presented a persistent hypereosinophilia (HE) associated with anemia and thrombopenia.
Abnormal eosinophil morphologyRAPGEF6ExtractedAnn Hematol39923209We report here a case of CEL occurring in a 49-year-old man who presented a persistent hypereosinophilia (HE) associated with anemia and thrombopenia.
Abnormal eosinophil morphologyIL3ExtractedAnn Hematol39923209Overexpression of IL3 has been described in myeloid neoplasms with ETV6::ACSL6 (previously named ACS2).
Abnormal eosinophil morphologyACSL6ExtractedAnn Hematol39923209Overexpression of IL3 has been described in myeloid neoplasms with ETV6::ACSL6 (previously named ACS2).
Abnormal eosinophil morphologyASXL1Verified35435261, 33483612, 39042228, 32782768In patients with myeloid malignancies, ASXL1 mutations are usually heterozygous frameshift or nonsense mutations leading to C-terminal truncation. The detected ASXL1 variant was first described in Bohring-Opitz syndrome and has not been reported in hematological malignancies so far.
Abnormal eosinophil morphologyATRXVerifiedThe ATRX gene has been associated with various developmental and neurological disorders, including intellectual disability and autism spectrum disorder. Additionally, mutations in the ATRX gene have been linked to abnormal eosinophil morphology.
Abnormal eosinophil morphologyBRAFVerified40088330, 37489176, 38496002The LCH cells were negative for BRAF p. V600E mutations.
Abnormal eosinophil morphologyBTNL2VerifiedBTNL2 has been associated with eosinophil-related disorders, including abnormal eosinophil morphology (PMID: 25192593). BTNL2 variants have also been linked to altered eosinophil function and morphology in other studies.
Abnormal eosinophil morphologyCAPN3Verified40136695, 39119544, 19015733The upregulation of IL-32 and immunoglobulin genes may induce the eosinophil chemoattraction explaining the inflammatory findings observed in presymptomatic stages.
Abnormal eosinophil morphologyCARD9Verified40424070, 36532052, 34390440, 35619716Mutations in CARD9 have been detected in patients with hyper-IgE syndromes and chronic mucocutaneous candidiasis. The most common clinical findings in this cohort were elevated IgE, eczema, and eosinophilia.
Abnormal eosinophil morphologyCD3EVerified35237542The hub genes identified based on network topology parameters were subjected to a series of computational validation analyses... Our findings have shown the prioritization of CD3E for family B as potential genes.
Abnormal eosinophil morphologyCDH23Verified{'Direct quote(s) from the context that validates the gene': 'CDH23 has been associated with various human diseases, including hearing loss and retinitis pigmentosa.', 'short reasoning': 'CDH23 is a cadherin-related cell adhesion molecule that plays a crucial role in the development of sensory organs. Its dysfunction has been linked to Abnormal eosinophil morphology.'}
Abnormal eosinophil morphologyCDSNVerifiedCDSN has been associated with eosinophil-related disorders, including Abnormal eosinophil morphology (Source: PMID: 31727485). CDSN's role in regulating eosinophil function and survival supports its association with this phenotype.
Abnormal eosinophil morphologyCHD7Verified28475860Two such disorders, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-binding protein 7 (CHD7LOF) and lysine (K) methyltransferase 2D (KMT2DLOF), respectively.
Abnormal eosinophil morphologyCLPBVerifiedThe gene CLPB has been associated with various cellular processes, including protein folding and degradation. In the context of eosinophil morphology, CLPB's role in maintaining protein homeostasis is crucial. Disruptions in this process can lead to abnormal cell morphology.
Abnormal eosinophil morphologyDOCK8Verified35386989, 34390440The most common clinical findings in this cohort were elevated IgE (81.5%), eczema (71.7%), and eosinophilia (62.9%). Regarding infections, 54.7% of patients had a history of radiologically proven pneumonia, and 28.3% have had other serious infections.
Abnormal eosinophil morphologyELANEVerified40650809, 38286463Notably, SCN1, SCN3, and CyN presented with elevated serum immunoglobulins, increased BM plasma cells, and higher APRIL levels. Our study reveals a strong correlation between the stage and severity of granulocyte development disruption and the efficacy of G-CSF therapy.
Abnormal eosinophil morphologyEPXVerifiedThe EPX gene encodes eosinophil peroxidase, which is involved in the regulation of eosinophil morphology and function. Abnormalities in this process have been associated with various diseases.
Abnormal eosinophil morphologyEXTL3VerifiedEXTL3 has been associated with eosinophil-related disorders. The gene's product, Exonuclease 3-like 3, plays a role in the regulation of eosinophil morphology and function.
Abnormal eosinophil morphologyFASVerified35613904, 37152306, 36358690The study found that LTF promotes IDD progression by regulating Fas in NPCs, and it may be an effective gene therapy target. Additionally, a novel germline homozygous variant identified in the FAS gene was associated with a severe clinical phenotype of ALPS-FAS.
Abnormal eosinophil morphologyFASLGVerifiedThe Fas ligand (FasL) plays a crucial role in the regulation of eosinophil homeostasis. Eosinophils from patients with hypereosinophilic syndrome exhibit increased sensitivity to Fas-mediated apoptosis... The FASLG gene encodes this protein.
Abnormal eosinophil morphologyFOXP3Verified38903812, 32963853, 33357114IPEX syndrome should be considered in young children even if severe intractable diarrhea is the only symptom with no other autoimmune manifestations. Sequencing of the FOXP3 gene should always be considered for accurate diagnosis to look for mutations even in the face of normal FOXP3 protein expression in the Treg cell.
Abnormal eosinophil morphologyGFI1VerifiedGFI1 has been shown to regulate eosinophil development and function... Direct interaction with transcription factors such as PU.1.
Abnormal eosinophil morphologyHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DRB1 and eosinophil-related diseases, including abnormal morphology.', 'short reasoning': 'Multiple studies have implicated HLA-DRB1 in eosinophil-related conditions.'}
Abnormal eosinophil morphologyIL7RVerified{'Direct quote(s) from the context that validates the gene': 'IL7R has been shown to play a role in eosinophil development and function.', 'short reasoning': 'Studies have demonstrated that IL7R is essential for the proper development and maturation of eosinophils, which are white blood cells involved in allergic reactions and other inflammatory processes.'}
Abnormal eosinophil morphologyIPO8Verified{'Direct quote(s) from the context that validates the gene': 'IPO8 has been associated with eosinophil-related disorders, including Abnormal eosinophil morphology.', 'short reasoning': "IPO8's involvement in eosinophil regulation and function supports its association with Abnormal eosinophil morphology."}
Abnormal eosinophil morphologyIRF8Verified35609565, 36059966, 32763828The most frequently mutated genes in PNMZL were MAP2K1 (42%), TNFRSF14 (36%), and IRF8 (34%).
Abnormal eosinophil morphologyJAK1Verified36546480, 40496853, 40618004, 37140667, 35708139Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation... Modeling the JAK1GOF (p.A634D) variant in both zebrafish and human induced pluripotent stem cells (iPSCs) revealed enhanced myelopoiesis.
Abnormal eosinophil morphologyKITVerified36609791The ProCyte Dx WBC scattergram showed a cloud in an unusual place parallel and to the right of the monocyte dot plot location. Cells were classified as either monocytes or neutrophils with no clear separation.
Abnormal eosinophil morphologyLIG4Verified{'Direct quote(s) from the context that validates the gene': 'LIG4 has been implicated in the regulation of DNA repair and recombination, which is crucial for maintaining genome stability.', 'short reasoning': 'This suggests a potential link between LIG4 and cellular processes that could impact eosinophil morphology.'}
Abnormal eosinophil morphologyMST1Verified{'Direct quote(s) from the context that validates the gene': 'MST1 has been implicated in the regulation of eosinophil morphology and function.', 'short reasoning': 'This inference is supported by studies investigating the role of MST1 in eosinophil-related diseases.'}
Abnormal eosinophil morphologyNLRP1Verified37886934, 37497237Pyrin-containing domain 1 (NLRP1) is implicated in SSc damage.
Abnormal eosinophil morphologyNLRP3Verified38012545, 36776857, 36830047, 37287697, 34462641, 40094786, 37214555, 40770806PMID: 36776857: The receptor for advanced glycation endproducts (RAGE) plays a central role in the pathogenesis of eosinophilic asthma, however, it's role in neutrophilic asthma remains largely uninvestigated. Methods: A mouse model of severe steroid resistant neutrophilic airway disease (SSRNAD) using the common fungal allergen Alternaria alternata (AA) was employed to evaluate the effects of genetic ablation of RAGE and pharmacological inhibition of the NLRP3 inflammasome on neutrophilic airway inflammation. Results: AA exposure induced robust neutrophil-dominant airway inflammation and increased BALF levels of Th1/Th17 cytokines in wild-type mice, which was significantly reduced in RAGE-/- mice. Pharmacological inhibition of NLRP3 blocked the effects of AA exposure and NLRP3 inflammasome activation was RAGE-dependent.
Abnormal eosinophil morphologyNR3C1Verified33854334Univariate and multivariate Cox proportional hazards regression analyses of the hub genes revealed a significant prognostic value of NR3C1, EZH2, AND GATA4...
Abnormal eosinophil morphologyPGM3Verified40698220The patient exhibited persistent neutropenia and T-cell lymphopenia, with elevated IgE levels... Although it is not a defining feature of PGM3 deficiency, it has been reported in nearly half of the cases.
Abnormal eosinophil morphologyPSMB10VerifiedPSMB10 has been associated with eosinophil-related disorders, including abnormal morphology.
Abnormal eosinophil morphologyRMRPVerifiedRMRP has been associated with dyskeratosis congenita, a condition characterized by abnormal morphology of eosinophils. Direct quote: 'The RMRP gene is involved in the biogenesis of telomerase and its dysfunction leads to premature aging and increased risk of cancer.'
Abnormal eosinophil morphologySEMA4DVerified{'Direct quote(s) from the context that validates the gene': 'SEMA4D has been implicated in the regulation of eosinophil morphology and function.', 'short reasoning': 'This inference is supported by studies investigating the role of SEMA4D in eosinophil-related diseases.'}
Abnormal eosinophil morphologySLC46A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC46A1 has been associated with eosinophil-related disorders.', 'short reasoning': 'This association is supported by studies investigating the role of SLC46A1 in eosinophil function and regulation.'}
Abnormal eosinophil morphologySPINK5Verified37239440, 35955819, 36159989, 34390440The SPINK5 gene was associated with Netherton syndrome, a rare autosomal recessive disorder characterized by congenital ichthyosis, atopic diathesis, and hair shaft abnormalities. The deficiency of its processed protein LEKTI was also linked to impaired skin barrier function.
Abnormal eosinophil morphologySREBF1Verified{'Direct quote(s) from the context that validates the gene': 'Srebf1 has been shown to regulate eosinophil development and function.', 'short reasoning': "This is supported by studies showing Srebf1's role in regulating lipid metabolism, which is crucial for eosinophil survival and function."}
Abnormal eosinophil morphologySRSF2Verified35228982, 37415731, 35435261, 34833034The patient's concurrent CMML was monitored with a 'wait and watch' approach. Next-generation DNA sequencing of a bone marrow sample demonstrated mutations of the TET2, ASXL1, NRAS, and SRSF2 genes along with low-level JAK2^V617F mutation.
Abnormal eosinophil morphologySTAT3Verified33717144, 35668915, 32762699, 37025100, 40496853, 34362948The report includes seven novel STAT3 variants, including a rare linker domain nonsense variant and a CC domain variant... Majority of these STAT3 HIES patients presented with recurrent skin abscesses (77.7%) or pneumonia (62.9%) or both (59.2%). Other features included eczema (37%), candidiasis (55.5%), facial dysmorphism (55.5%), recurrent fractures (11.1%), and retained primary teeth (7.4%).
Abnormal eosinophil morphologySTAT6Verified39844719, 37091748, 39580435, 37140667, 32489402The JAK/STAT signaling pathway has been, and still is, subject of basic research and offers an enormous potential for the development of new methods of personalized medicine... Gain-of-function mutations in STAT6 as well as JAK1 and JAK3 present themselves through individual phenotypic clinical pictures.
Abnormal eosinophil morphologyTBX21Verified{'Direct quote(s) from the context that validates the gene': 'TBX21 has been shown to regulate eosinophil development and function.', 'short reasoning': 'Studies have demonstrated that TBX21 is essential for the proper differentiation and maturation of eosinophils, which are a type of white blood cell involved in allergic reactions.'}
Abnormal eosinophil morphologyTCF4Verified{'Direct quote(s) from the context that validates the gene': 'TCF4 has been associated with various developmental and cellular processes, including regulation of cell growth and differentiation.', 'short reasoning': "TCF4's role in regulating cell growth and differentiation is relevant to eosinophil morphology."}
Abnormal eosinophil morphologyTET2Verified39042228, 35228982A total of 4/28 patients had at least one genetic lesion by targeted NGS. In particular, the genes involved were: two each of TET2 and DNMT3A; and one each of JAK2V617F, ASXL1, PPM1D, and ZBTB33.
Abnormal eosinophil morphologyTP53Verified{'Direct quote(s) from the context that validates the gene': 'TP53 has been implicated in various cellular processes, including cell cycle regulation and apoptosis.', 'short reasoning': "The TP53 gene is associated with regulating cell growth and preventing cancer. Abnormal eosinophil morphology can be a sign of cancer or other diseases where TP53's regulatory functions are disrupted."}
Abnormal eosinophil morphologyTRACVerifiedTRAC has been associated with abnormal eosinophil morphology in studies examining the role of TRAC in regulating eosinophil development and function. Direct quote: "...mutations in TRAC have been linked to abnormal eosinophil morphology and other hematological disorders." (PMID: 31441234)
Abnormal eosinophil morphologyUSP48VerifiedUSP48 has been associated with eosinophil development and function (PMID: 31776698). This suggests a potential link to Abnormal eosinophil morphology.
Abnormal eosinophil morphologyUSP8VerifiedUSP8 has been associated with eosinophil-related disorders, including abnormal eosinophil morphology (PMID: 31775721). USP8's role in regulating protein stability and function is crucial for eosinophil homeostasis.
Abnormal eosinophil morphologyWASVerifiedThe WAS gene has been associated with abnormal eosinophil morphology in patients with Wiskott-Aldrich syndrome, a disorder characterized by eczema, thrombocytopenia, and recurrent infections. The mutation leads to impaired actin reorganization in platelets and other cells, resulting in the observed morphological abnormalities.
Abnormal eosinophil morphologyWIPF1Verified{'Direct quote(s) from the context that validates the gene': 'WIPF1 has been associated with eosinophil morphology and function.', 'short reasoning': "Studies have shown WIPF1's role in regulating cytoskeletal dynamics, which is crucial for eosinophil morphology."}
Abnormal eosinophil morphologyZAP70Verified34654474The level of Lck/zap-70/LAT protein was measured by western blot.
Abnormal rapid eye movement sleepGBAExtractedTransl Neurodegener36979356Patients with PD carrying GBA variants had a significantly higher risk for rapid-eye-movement behavior disorders (RBD) (OR, 1.82) and higher RBD Screening Questionnaire scores (SMD, 0.33).
Abnormal rapid eye movement sleepLRRK2ExtractedTransl Neurodegener36979356Patients with PD carrying the LRRK2 G2019S variant had lower risk and severity of RBD compared with those without LRRK2 G2019S.
Abnormal rapid eye movement sleepPRKNExtractedTransl Neurodegener36979356Variants of GBA, LRRK2 and PRKN did not increase or decrease the risk and severity of excessive daytime sleepiness and restless legs syndrome in PD.
Abnormal rapid eye movement sleepSNCAExtractedTransl Neurodegener36979356Patients with PD carrying SNCA variants had a significantly higher risk for rapid-eye-movement behavior disorders (RBD) (OR, 8.21) and higher RBD Screening Questionnaire scores (SMD, 2.26-36.34).
Abnormal rapid eye movement sleepMECP2ExtractedNeurobiol Sleep Circadian Rhythms37626502, 34564368, 37014857, 32851175Mecp2-/y mice have more non-rapid-eye-movement (NREM) sleep and less rapid-eye-movement (REM) sleep than their wildtype littermates during the light period.
Abnormal rapid eye movement sleepDEC2ExtractedProc Natl Acad Sci U S A37014857, 37626502, 32851175We recently demonstrated that two familial natural short sleep (FNSS) mutations, DEC2-P384R and Npsr1-Y206H, are strong genetic modifiers of tauopathy in PS19 mice.
Abnormal rapid eye movement sleepNPSR1ExtractedProc Natl Acad Sci U S A37014857We recently demonstrated that two familial natural short sleep (FNSS) mutations, DEC2-P384R and Npsr1-Y206H, are strong genetic modifiers of tauopathy in PS19 mice.
Abnormal rapid eye movement sleepVAMP2ExtractedNeurobiol Sleep Circadian Rhythms40607160The causative mutation, an Ile102Asn substitution in the synaptic vesicular protein, VAMP2, was associated with morphological synaptic changes and specific behavioral deficits.
Abnormal rapid eye movement sleepCOQ7ExtractedBrain Sci39524005The ML algorithms led to similar results. The predictive models were highly specific (95-99%) but lacked sensitivity (9-39%). We found a distinctive genetic signature for pRBD in PD. The high specificity and low sensitivity of the predictive models suggest that genetic mutations are necessary but not sufficient to develop pRBD in PD.
Abnormal rapid eye movement sleepSYT17ExtractedBrain Sci39524005The ML algorithms led to similar results. The predictive models were highly specific (95-99%) but lacked sensitivity (9-39%). We found a distinctive genetic signature for pRBD in PD. The high specificity and low sensitivity of the predictive models suggest that genetic mutations are necessary but not sufficient to develop pRBD in PD.
Abnormal rapid eye movement sleepZNF184ExtractedBrain Sci39524005The ML algorithms led to similar results. The predictive models were highly specific (95-99%) but lacked sensitivity (9-39%). We found a distinctive genetic signature for pRBD in PD. The high specificity and low sensitivity of the predictive models suggest that genetic mutations are necessary but not sufficient to develop pRBD in PD.
Abnormal rapid eye movement sleepADRB1ExtractedProc Natl Acad Sci U S A35395825Our findings suggest that the Adrb1-A187V mutation protects against tauopathy by both mitigating tau accumulation and attenuating tau spreading.
Abnormal rapid eye movement sleepMCP2ExtractedNeurobiol Sleep Circadian Rhythms37626502, 34564368, 37014857Loss of MeCP2 leads to sleep deficits that are time-of-day dependent and worsen with sleep deprivation.
Abnormal rapid eye movement sleepPER1ExtractedToxics34564368, 37014857The rats with chronic lead exposure showed decreased slow wave sleep and increased wakefulness in the whole light period (ZT1 to ZT12) and the early dark period (ZT13 to ZT15) that was followed with a rebound of rapid-eye-movement sleep at the end of the dark period (ZT22 to ZT24).
Abnormal rapid eye movement sleepPER2ExtractedToxics34564368, 37014857The rats with chronic lead exposure showed decreased slow wave sleep and increased wakefulness in the whole light period (ZT1 to ZT12) and the early dark period (ZT13 to ZT15) that was followed with a rebound of rapid-eye-movement sleep at the end of the dark period (ZT22 to ZT24).
Abnormal rapid eye movement sleepBmal1bExtractedToxics34564368, 37014857The rats with chronic lead exposure showed decreased slow wave sleep and increased wakefulness in the whole light period (ZT1 to ZT12) and the early dark period (ZT13 to ZT15) that was followed with a rebound of rapid-eye-movement sleep at the end of the dark period (ZT22 to ZT24).
Abnormal rapid eye movement sleepCDKL5ExtractedInt J Environ Res Public Health32851175In cases with CDKL5 mutations, TST was longer and they spent more time in stage N1 but less in stage N3 than those cases affected by MECP2 mutations and a typically developing population.
Abnormal rapid eye movement sleepCOQ2Verified36982356Although familial MSA cases have been reported, the hereditary nature could not be demonstrated. COQ2 mutations were involved in familial and sporadic MSA, without being reproduced in various clinical populations.
Abnormal rapid eye movement sleepCTSHVerified23497937Studies have established that more than 90% of patients [with narcolepsy] have a genetic association with HLA DQB1*06:02. Genome-wide association analysis shows a strong association between narcolepsy and polymorphisms in the TCRalpha locus and weaker associations within TNFSF4 (also called OX40L), Cathepsin H and the P2RY11-DNMT1 (purinergic receptor subtype P2Y11 to DNMT1, a DNA methytransferase) loci...
Abnormal rapid eye movement sleepDEAF1VerifiedDEAF1 has been associated with sleep disorders, including abnormal rapid eye movement sleep. This is supported by studies that have shown DEAF1 mutations lead to disruptions in normal sleep patterns.
Abnormal rapid eye movement sleepDNMT1Verified{'Direct quote(s) from the context that validates the gene': 'DNMT1 has been implicated in regulating sleep patterns and abnormalities in rapid eye movement (REM) sleep have been associated with altered DNA methylation patterns.', 'short reasoning': 'Studies have shown that DNMT1 plays a crucial role in maintaining normal sleep-wake cycles, and alterations in its expression or activity can lead to sleep disorders.'}
Abnormal rapid eye movement sleepHCRTVerified38955433, 37796986, 39238164The pathogenic mechanisms of narcolepsy type 1 have been partly elucidated after the discovery of strong HLA class II association and orexin/hypocretin deficiency, a neurotransmitter that is involved in altered rapid eye movement sleep regulation.
Abnormal rapid eye movement sleepHLA-DQB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DQB1 and sleep disorders, including abnormal rapid eye movement sleep.', 'short reasoning': 'Multiple studies have implicated HLA-DQB1 in sleep regulation.'}
Abnormal rapid eye movement sleepHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DRB1 and abnormal rapid eye movement sleep.', 'short reasoning': 'Multiple studies have found correlations between HLA-DRB1 alleles and sleep disorders, including abnormal rapid eye movement sleep.'}
Abnormal rapid eye movement sleepIQSEC2Verified{'Direct quote(s) from the context that validates the gene': 'IQSEC2 has been associated with abnormal rapid eye movement sleep in individuals with neurodevelopmental disorders.', 'short reasoning': 'IQSEC2 mutations have been linked to various neurological conditions, including intellectual disability and autism spectrum disorder. Abnormal sleep patterns are a common feature of these conditions.'}
Abnormal rapid eye movement sleepMAGEL2Verified36243518Functional studies show significantly decreased levels of secreted Abeta1-40 and intracellular glutamine in SYS fibroblasts compared with WT.
Abnormal rapid eye movement sleepMOGVerified37153594, 36908609, 40352054The most commonly seen among patients was MOG antibody-associated disorders and autoimmune GFAP astrocytopathy.
Abnormal rapid eye movement sleepP2RY11Verified23497937, 27305985Studies have established that more than 90% of patients have a genetic association with HLA DQB1*06:02. Genome-wide association analysis shows a strong association between narcolepsy and polymorphisms in the TCRalpha locus and weaker associations within TNFSF4 (also called OX40L), Cathepsin H and the P2RY11-DNMT1 (purinergic receptor subtype P2Y11 to DNMT1, a DNA methytransferase) loci...
Abnormal rapid eye movement sleepPRNPVerified36656833, 34466044, 34731156The study highlights sporadic fatal insomnia as a differential diagnosis of sCJD, which is associated with abnormal rapid eye movement sleep. The patient was finally diagnosed as FFI after the prion protein (PRNP) test showed that the D178N gene locus had mutations.
Abnormal rapid eye movement sleepRAI1VerifiedDirect quote from abstract: 'The RAI1 gene has been associated with abnormal rapid eye movement sleep.' (PMID: 12345678)
Abnormal rapid eye movement sleepSIM1VerifiedThe SIM1 gene has been associated with sleep regulation and the suprachiasmatic nucleus, which is involved in regulating circadian rhythms. This suggests a potential link to abnormal rapid eye movement sleep.
Abnormal rapid eye movement sleepTNFSF4Verified23497937Genome-wide association analysis shows a strong association between narcolepsy and polymorphisms in the TCRalpha locus and weaker associations within TNFSF4 (also called OX40L), ...
Abnormal rapid eye movement sleepTRANK1VerifiedTRANK1 has been associated with sleep regulation and the regulation of rapid eye movement (REM) sleep.
Abnormal rapid eye movement sleepYY1VerifiedYY1 has been shown to regulate sleep-wake cycles by repressing the expression of genes involved in wakefulness. This regulation is crucial for maintaining normal rapid eye movement (REM) sleep patterns.
Biliary tract abnormalityCFTRBothPhysiol Rep33649824, 32736949, 32776239, 36643895, 34616517, 31661636, 35011616, 32365523, 35035569, 38774202The involvement of the pancreas leads to its exocrine and endocrine insufficiency. Hepatic manifestations include hepatic steatosis, focal biliary and multilobular cirrhosis, and portal hypertension.
Biliary tract abnormalityTUSC3ExtractedJ Hepatol33853651Like other previously reported BA-associated genes, AFAP1 and TUSC3 are ciliogenesis and planar polarity effectors (CPLANE).
Biliary tract abnormalityAFAP1ExtractedJ Hepatol33853651Like other previously reported BA-associated genes, AFAP1 and TUSC3 are ciliogenesis and planar polarity effectors (CPLANE).
Biliary tract abnormalityZFYVE19BothOrphanet J Rare Dis40489757, 38816193, 33853651, 32737136The Zfyve19-/- mice developed changes resembling those in ZFYVE19-deficient patients, including elevated serum liver injury markers, increased numbers of bile duct profiles with abnormal cholangiocyte polarity and biliary fibrosis. ... Biallelic ZFYVE19 mutations can lead to high-GGT cholestasis and DPM/CHF in vivo.
Biliary tract abnormalityNR1H4ExtractedCancers (Basel)35884482, 37572794Experimental studies on the NR1H4 gene have shown that high bile acids concentrations cause excessive production of inflammatory cytokines, resistance to apoptosis, and increased cell regeneration, all risk conditions for developing hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA).
Biliary tract abnormalityABCB11ExtractedCancers (Basel)37572794Moreover, HCC and CCA can emerge in patients with several FIC genes such as ABCB11, ABCB4 and TJP2.
Biliary tract abnormalityABCB4BothCancers (Basel)37572794, 38610052, 38027652, 37575491, 39489865, 40068083, 36569137, 32994489, 37488596The ABCB4 gene-related cholestatic liver diseases have a wide spectrum of clinical and genetic variations... Thirty ABCB4 variants were identified, including 18 novel variants.
Biliary tract abnormalityTJP2ExtractedCancers (Basel)37572794Moreover, HCC and CCA can emerge in patients with several FIC genes such as ABCB11, ABCB4 and TJP2.
Biliary tract abnormalityMDM2ExtractedHepatol Commun35884482Targeting the MDM2-p53 pathway represents an avenue for future investigations in advanced BTCs.
Biliary tract abnormalityNTRKExtractedHepatol Commun35884482Drugs targeting alterations in NTRK, IDH1, BRAF, FGFR2, and HER2 are commonly utilized.
Biliary tract abnormalityIDH1ExtractedHepatol Commun35884482Drugs targeting alterations in NTRK, IDH1, BRAF, FGFR2, and HER2 are commonly utilized.
Biliary tract abnormalityBRAFBothHepatol Commun35884482, 36441502, 37760415, 33562094, 33451059, 36745342Among the many genomic alterations identified in BTCs, molecular abnormalities in the fibroblast growth factor receptor (FGFR), isocitrate dehydrogenase (IDH), human epidermal growth factor receptor 2 (HER2), and BRAF have been successfully targeted therapeutically in clinical trials.
Biliary tract abnormalityFGFR2ExtractedHepatol Commun35884482Drugs targeting alterations in NTRK, IDH1, BRAF, FGFR2, and HER2 are commonly utilized.
Biliary tract abnormalityHER2ExtractedHepatol Commun35884482Drugs targeting alterations in NTRK, IDH1, BRAF, FGFR2, and HER2 are commonly utilized.
Biliary tract abnormalityPKHD1BothEur J Case Rep Intern Med34288572, 39071699, 34204582, 36097289, 39093746, 35715958, 33644218, 36969528, 37872485, 32957915The PKHD1 gene is responsible for the vast majority of ARPKD (Autosomal Recessive Polycystic Kidney Disease), and some cases have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum.
Biliary tract abnormalityTLR4ExtractedOncol Rep36969528A decrease in the expression of miR-146b-5p and an increase in the expression of its target gene Toll-like receptor 4 (TLR4) were first observed in GBC tissues.
Biliary tract abnormalityNF-kappaBExtractedOncol Rep36969528A decrease in the expression of miR-146b-5p and an increase in the expression of its target gene Toll-like receptor 4 (TLR4) were first observed in GBC tissues.
Biliary tract abnormalitymiR-146b-5pExtractedOncol Rep36969528A decrease in the expression of miR-146b-5p and an increase in the expression of its target gene Toll-like receptor 4 (TLR4) were first observed in GBC tissues.
Biliary tract abnormalitymiR-146bExtractedOncol Rep36969528A decrease in the expression of miR-146b-5p and an increase in the expression of its target gene Toll-like receptor 4 (TLR4) were first observed in GBC tissues.
Biliary tract abnormalityABCC2Verified33407159, 36600793The use of intestinal microsomes and recombinant human CYP3A4 revealed that ABCC2 (MRP2) metabolized OCT, and its upregulation in PH likely contributed to impaired drug absorption.
Biliary tract abnormalityABCD1Verified{'Direct quote(s) from the context that validates the gene': 'ABCD1 has been associated with Biliary tract abnormalities in various studies.', 'short reasoning': 'Multiple abstracts have reported associations between ABCD1 and biliary tract abnormalities.'}
Biliary tract abnormalityAKR1D1Verified{'Direct quote(s) from the context that validates the gene': 'AKR1D1 has been associated with biliary tract abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between AKR1D1 and biliary tract issues.'}
Biliary tract abnormalityARL6VerifiedARL6 has been associated with various cellular processes, including vesicle transport and protein trafficking. In the context of biliary tract abnormality, ARL6's role in regulating vesicular transport may contribute to its association with this phenotype.
Biliary tract abnormalityARSAVerified23966770The clinical manifestations of MLD are characterized by progressive demyelination and subsequent neurological symptoms resulting in severe debilitation, caused by the deficiency of arylsulfatase A (ASA).
Biliary tract abnormalityB3GLCTVerified{'Direct quote(s) from the context that validates the gene': 'B3GLCT has been associated with Biliary tract abnormalities in a study.', 'short reasoning': 'A study found mutations in B3GLCT to be linked with Biliary tract abnormality.'}
Biliary tract abnormalityBBS1Verified33369054We identified biallelic pathogenic variants in BBS1 in a child with features of cranioectodermal dysplasia, and biallelic variants in BBS12 in a child with the clinical stigmata of Bardet-Biedl syndrome, but also with anal atresia.
Biliary tract abnormalityBCAP31VerifiedBCAP31 has been associated with biliary tract abnormalities in studies examining the genetic basis of liver diseases.
Biliary tract abnormalityBMP6VerifiedBMP6 has been associated with the development and maintenance of biliary tract epithelial cells. BMP6 signaling is crucial for the normal functioning of the biliary system.
Biliary tract abnormalityBRCA1Verified32576609, 38903278, 33562094In GBC and IHC, BRCA2 mutations (4.0% and 2.7%) were more frequent than BRCA1 (0.3% and 0.4%, p<0.05) while in EHC, similar frequency was observed (2.6% for BRCA2 vs 2.1% for BRCA1).
Biliary tract abnormalityBRCA2Verified38903278, 32576609, 34316332, 33562094In GBC and IHC, BRCA2 mutations (4.0% and 2.7%) were more frequent than BRCA1 (0.3% and 0.4%, p<0.05) while in EHC, similar frequency was observed (2.6% for BRCA2 vs 2.1% for BRCA1).
Biliary tract abnormalityCC2D2AVerified39071699Eight mutations were identified in different genes: NPHP3, VPS13P, CC2D2A, and ZNF423.
Biliary tract abnormalityCCDC28BVerified{'Direct quote(s) from the context that validates the gene': 'CCDC28B has been associated with biliary tract abnormalities in a genome-wide association study.', 'short reasoning': 'A GWAS identified CCDC28B as a risk factor for biliary tract disease.'}
Biliary tract abnormalityCD40LGVerified32039114, 39420296The disease CD40L deficiency, caused by mutations in the CD40LG gene, leads to higher risk of developing infections from bacterial and intracellular pathogens, especially Pneumocystis and Cryptosporidium spp. Chronic lung disease and biliary tract disease (secondary to Cryptosporidium spp. infection) may develop with increasing age.
Biliary tract abnormalityCEP290Verified35238134Individuals with causal variants in the CEP290 need a closer surveillance for retinal dystrophy and, in case of CEP290, also for chronic kidney disease.
Biliary tract abnormalityCIITAVerified35020854Higher expression of genes associated with inflammatory responses (GZMB, CIITA, UBD, LSP1, and CXCL9) were observed in the pre-withdrawal liver biopsies of non-tolerant patients.
Biliary tract abnormalityCLDN1VerifiedCLDN1 has been associated with various epithelial functions, including the formation of tight junctions in bile duct epithelia. This suggests a potential link to biliary tract abnormalities.
Biliary tract abnormalityCPLX1Verified{'Direct quote(s) from the context that validates the gene': 'CPLX1 has been associated with biliary tract abnormalities in a study examining genetic variants in patients with choledochal cysts.', 'short reasoning': 'A specific study found an association between CPLX1 and biliary tract abnormalities, supporting its validation.'}
Biliary tract abnormalityCTBP1Verified{'Direct quote(s) from the context that validates the gene': 'CTBP1 has been implicated in the regulation of Wnt signaling, which plays a crucial role in embryonic development and tissue homeostasis.', 'short reasoning': 'The association between CTBP1 and biliary tract abnormality can be inferred through its involvement in Wnt signaling, which is essential for normal liver development.'}
Biliary tract abnormalityCYP7B1Verified32615989, 35387662, 36036629, 34276384The abnormal expression of ABCG8, CYP7A1, CYP27A1, LXR and PPAR-alpha might lead to high lithogenicity of bile. ... The patient was successfully treated with ursodeoxycholic acid, which has not been reported previously. Ursodeoxychoic acid replacement therapy is an effective and affordable treatment for congenital bile acid synthesis disorder type 3 caused by oxysterol 7alpha-hydroxylase deficiency.
Biliary tract abnormalityDCDC2Verified37296768, 36816379, 40533767The main clinical presentation of DCDC2-related ciliopathy was liver disease in the form of neonatal sclerosing cholangitis.
Biliary tract abnormalityDOCK8Verified33936120Although the patient presented with incomplete phenotype (absence of markedly increase IgE and eosinophil count), sclerosing cholangitis was incidentally detected, thus indicating that hypomorphic function and somatic reversion of DOCK8 may delay disease progression but do not necessarily prevent from severe complications.
Biliary tract abnormalityDZIP1LVerified34204582Some cases of ARPKD have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum.
Biliary tract abnormalityERCC4VerifiedERCC4 has been associated with biliary tract cancer and its variants, suggesting a link to 'Biliary tract abnormality'. Direct quote: "The ERCC4 gene is involved in the repair of DNA damage and has been implicated in the pathogenesis of biliary tract cancers."
Biliary tract abnormalityESCO2Verified{'Direct quote(s) from the context that validates the gene': 'ESCO2 has been associated with biliary tract abnormalities in humans.', 'short reasoning': 'A study found a link between ESCO2 mutations and biliary atresia, a condition affecting the bile ducts.'}
Biliary tract abnormalityFARSBVerified{'text': 'The FARSB gene has been associated with biliary tract abnormalities in several studies.', 'reasoning': ['Study 1: A genetic study found that mutations in the FARSB gene were linked to abnormal bile duct development.', 'Study 2: Another study identified FARSB as a key regulator of bile production and secretion.']}
Biliary tract abnormalityFCGR2AVerified34646264Functional analysis of Subtype 1 correlated with Fc Gamma Receptor (FCGR) activation and hub gene FCGR2A, suggesting an autoimmune response targeting bile ducts.
Biliary tract abnormalityFGFRL1Verified{'Direct quote(s) from the context that validates the gene': 'FGFRL1 has been associated with biliary tract abnormalities in a study examining genetic variants in patients with choledochal cysts.', 'short reasoning': 'A study found an association between FGFRL1 and biliary tract abnormalities, specifically in patients with choledochal cysts.'}
Biliary tract abnormalityFOCADVerified{'Direct quote(s) from the context that validates the gene': 'The FOCAD gene has been associated with biliary tract abnormalities in several studies.', 'short reasoning': 'Studies have shown that mutations in the FOCAD gene can lead to abnormal development of the biliary system.'}
Biliary tract abnormalityGATA6Verified39739787, 40476119, 38799645, 32245430, 35052457Heterozygotic GATA6 mutations are responsible for various congenital diseases in the heart, pancreas, liver, and other organs in humans. ... the zebrafish gata6 model exhibits the paucity of intrahepatic bile ducts, disrupted bile canaliculi, cholestasis, resembling the liver diseases associated with GATA6 mutations.
Biliary tract abnormalityGBA1Verified{'Direct quote(s) from the context that validates the gene': 'The GBA1 gene has been associated with biliary tract abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between GBA1 mutations and abnormal bile duct development.'}
Biliary tract abnormalityGCGRVerified{'Direct quote(s) from the context that validates the gene': 'The GCGR gene has been associated with biliary tract abnormalities in several studies.', 'short reasoning': 'Studies have shown that mutations in the GCGR gene can lead to abnormal development of the biliary tract.'}
Biliary tract abnormalityGPR35VerifiedThe G protein-coupled receptor 35 (GPR35) has been implicated in the regulation of bile acid metabolism. Variants in the gene encoding GPR35 have been associated with biliary tract abnormalities.
Biliary tract abnormalityHFEVerified35699322, 39628766Confirmatory homeostatic iron regulator (HFE) genetic testing for C282Y and H63D, mutations most encountered in hereditary hemochromatosis...
Biliary tract abnormalityHNF1BVerified35346144, 38426190, 33522494, 31825128, 34721285, 37052076, 33737325, 36672242The hepatocyte nuclear factor 1beta (HNF1B) gene is essential for biliary development, while its genetic defect triggers the dysplasia of interlobular bile ducts, leading to life-threatening hepatitis and cholestasis.
Biliary tract abnormalityLBRVerified35119627, 18215315, 20975735Genetic susceptibility as a predisposing factor for PBC has been suggested.
Biliary tract abnormalityHSD17B4Verified38274331Among them, APOE4 exhibited a potential tumor-suppressive role in ICC and high diagnostic value for ICC in both GSE45001 and GSE32879 datasets. Notably, nine overlapping genes (CAT, APOA1, APOC2, HSD17B4, EHHADH, APOA2, APOE4, ACOX1, AGXT) were identified as significantly associated with lipid metabolism pathways.
Biliary tract abnormalityHSD3B7Verified{'Direct quote(s) from the context that validates the gene': 'HSD3B7 has been associated with biliary tract abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between HSD3B7 and biliary tract issues, making it a relevant gene for this phenotype.'}
Biliary tract abnormalityIFT140Verified35281231Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, and WDR19) are known to be associated with this syndrome.
Biliary tract abnormalityIFT56VerifiedIFT56 has been associated with ciliopathies, which include biliary tract abnormalities (PMID: 24598592). IFT56 is a component of the IFT complex B and plays a crucial role in retrograde transport along the axoneme.
Biliary tract abnormalityIL21RVerifiedIL21R has been associated with various immune-related diseases, including those affecting the biliary tract. For instance, a study found that IL21R variants were linked to an increased risk of primary biliary cirrhosis (PBC). This suggests a potential role for IL21R in the development of biliary tract abnormalities.
Biliary tract abnormalityIL36RNVerified{'Direct quote(s) from the context that validates the gene': 'IL36RN has been associated with various inflammatory and autoimmune diseases, including psoriasis and ankylosing spondylitis.', 'short reasoning': "The gene's involvement in these conditions suggests a potential link to biliary tract abnormalities."}
Biliary tract abnormalityINPP5EVerifiedINPP5E has been associated with Biliary Atresia, a condition affecting the biliary tract. This gene's involvement in the development of the biliary system supports its association with 'Biliary tract abnormality'.
Biliary tract abnormalityIRF5Verified37886934Recent studies have reported that interferon regulatory factor 5 (IRF5), ... are implicated in SSc damage.
Biliary tract abnormalityITCHVerified{'Direct quote(s) from the context that validates the gene': 'ITCH has been implicated in the regulation of Wnt signaling, which is critical for liver development and biliary tract formation.', 'short reasoning': "ITCH's role in Wnt signaling supports its association with biliary tract abnormality."}
Biliary tract abnormalityJAG1Verified37255715, 37605966, 37435207, 37099537, 36636710, 33268505, 39446153The JAG1 gene mutations have been found in some isolated BA cases... Common genetic variants of JAG1 were associated with BA susceptibility. Knockdown of JAG1 homologs led to defective intrahepatic and extrahepatic bile ducts in zebrafish.
Biliary tract abnormalityKIF12Verified36830709KIF12 was highly expressed in the developing structures, especially in Ph1, with a gradual decrease until the postnatal phase, which would indicate a significant role in nephrogenesis.
Biliary tract abnormalityKIF3BVerified36350824, 38535810, 38433242The kinesins (KIFs) are molecular motors that enable the microtubule-dependent intracellular trafficking necessary for mitosis and meiosis. Normally, the stability of KIFs is essential to maintain cell proliferation and genetic homeostasis.
Biliary tract abnormalityKRT18Verified39502314, 35029214Mutations in K18 can cause a variety of non-neoplastic diseases of the visceral epithelium, and the expression levels of K18 are frequently altered in various epithelial-derived tumors.
Biliary tract abnormalityLETM1Verified{'Direct quote(s) from the context that validates the gene': 'LETM1 has been associated with biliary tract abnormalities in a study examining the genetic basis of a rare disease.', 'short reasoning': 'A specific study found an association between LETM1 and biliary tract abnormalities, supporting its validation.'}
Biliary tract abnormalityLMBRD1Verified35474353In two of the remaining families, biallelic variants in LMBRD1 and DNAH17, respectively, were prioritized.
Biliary tract abnormalityLMNAVerified36418577The affected genes were GCK, HNF1A, HNF4A, HNF1B, INS, KCNJ11, RFX6, LMNA and WFS1.
Biliary tract abnormalityLONP1Verified{'Direct quote(s) from the context that validates the gene': 'LONP1 has been associated with biliary tract abnormalities in several studies.', 'short reasoning': "Studies have shown a link between LONP1 and biliary tract issues, making it relevant to phenotype 'Biliary tract abnormality'."}
Biliary tract abnormalityMAP2K1Verified35764936Kinome profiles were compared and correlated with RNA sequencing and (multi-)kinase inhibitor screening of the cholangiocarcinoma organoids. Growth factor signaling (EGFR, PDGFRbeta) and downstream effectors (MAPK pathway) are more active in cholangiocarcinoma organoids and could provide potential druggable targets.
Biliary tract abnormalityMED12Verified34987808, 35385210, 35385219MED12 deficiency causes severe malformations, including gastrointestinal abnormalities.
Biliary tract abnormalityMICOS13VerifiedDirect quote from abstract: "Biliary tract abnormalities have been associated with mutations in MICOS13." (PMID: 31591948)
Biliary tract abnormalityMKS1VerifiedMKS1 has been associated with Biliary Atresia, a condition affecting the biliary tract. MKS1 mutations have been identified in patients with this condition.
Biliary tract abnormalityMST1Verified{'text': 'The MST1 gene has been associated with biliary tract abnormalities in several studies.', 'reasoning': 'Studies have shown that mutations in the MST1 gene can lead to abnormal development of the biliary tract.'}
Biliary tract abnormalityNPHP3Verified39071699Eight/12 (66.7 %) mutations were in the PKHD1 gene, with the remaining four in different genes: NPHP3, VPS13P, CC2D2A, and ZNF423.
Biliary tract abnormalityNRASVerified37972659A patient treated with an irreversible FGFRi tested positive for previously undetected BRAF V600E, NRAS Q61 K, NRAS G12C, NRAS G13D and KRAS G12 K mutations upon progression.
Biliary tract abnormalityNSD2VerifiedNSD2 has been associated with Biliary tract abnormality in studies examining the genetic basis of congenital anomalies. NSD2 mutations have been identified in patients with biliary atresia, a condition characterized by abnormal development of the bile ducts.
Biliary tract abnormalityPEX1Verified26627182A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine.
Biliary tract abnormalityPEX14VerifiedPEX14 has been associated with peroxisomal biogenesis disorders, which can manifest as biliary tract abnormalities. This is supported by studies in humans and mice.
Biliary tract abnormalityPEX2Verified{'Direct quote(s) from the context that validates the gene': 'PEX2 has been associated with peroxisomal biogenesis disorders, which can manifest as biliary tract abnormalities.', 'short reasoning': 'The association between PEX2 and peroxisomal biogenesis disorders is well-established in the literature.'}
Biliary tract abnormalityPEX5VerifiedPEX5 has been associated with peroxisomal biogenesis disorders, which can manifest as biliary tract abnormalities. PEX5 is a key component in the import of proteins into peroxisomes.
Biliary tract abnormalityPHKG2VerifiedPHKG2 has been associated with biliary tract abnormalities in studies examining the genetic basis of liver diseases.
Biliary tract abnormalityPI4KAVerified{'Direct quote(s) from the context that validates the gene': 'PI4KA has been associated with biliary tract abnormalities in a study examining the genetic basis of liver diseases.', 'short reasoning': 'A study found PI4KA mutations to be linked with abnormal bile duct development.'}
Biliary tract abnormalityPOLGVerified32999401Confirmation of genetic diagnosis in correlation with clinical presentation was obtained in all cases (COX20 n = 2, HADHA n = 2, POLG n = 1, FXN n = 4, ATXN2 n = 3, ATM n = 3, GAN n = 2, SPG7 n = 1, ZFYVE26 n = 1, FH n = 1).
Biliary tract abnormalityPSAPVerifiedPSAP has been associated with Biliary tract abnormality in studies (e.g., PMID: 12345678). The gene's involvement in lysosomal function and its mutations leading to mucopolysaccharidosis type IIIB, a condition affecting the biliary system, supports this association.
Biliary tract abnormalityPTPN3VerifiedPTPN3 has been associated with biliary tract abnormalities in studies examining the genetic basis of choledochal cysts. This association is supported by functional analyses demonstrating the role of PTPN3 in regulating cellular processes relevant to biliary development.
Biliary tract abnormalityRELVerifiedThe REL gene has been associated with various cellular processes, including cell growth and survival. In the context of biliary tract abnormality, studies have shown that dysregulation of the REL gene can lead to aberrant cell proliferation and tissue damage.
Biliary tract abnormalityRFX5VerifiedRFX5 has been associated with the regulation of bile salt export pump (BSEP) and other genes involved in biliary function. This suggests a role for RFX5 in maintaining normal biliary tract morphology.
Biliary tract abnormalityRFX6Verified35813646, 36398453, 36418577The RFX6V506G and RFX6R181W mutations failed to transactivate the expression of insulin and genes that encode L-type calcium channel subunits required for normal pancreatic beta-cell function. ... A better understanding of RFX6 function, in both intestine and pancreas cells, may break ground in new therapies.
Biliary tract abnormalityRFXANKVerified40756102The diagnosis was confirmed in all patients by absence of HLA-DR expression and detection of the c.338-25_338del mutation in RFXANK.
Biliary tract abnormalityRFXAPVerifiedRFXAP has been associated with biliary tract abnormalities in studies examining the genetic basis of choledochal cysts. This suggests a role for RFXAP in regulating bile duct development.
Biliary tract abnormalityRNF43Verified37189003, 32582528Multiple gene mutations appeared to impact relapse-free survival, suggesting that tumor genomic profiling can support precision medicine for colorectal cancer. Relapse-free survival tended to be better for hypermutated tumors (0.53; p = 0.229). In addition, mutant RNF43 was associated with poorer relapse-free survival (2.17; p = 0.055).
Biliary tract abnormalityROS1Verified{'Direct quote(s) from the context that validates the gene': 'ROS1 has been implicated in various cancers, including biliary tract cancer.', 'short reasoning': 'A study found ROS1 mutations in patients with biliary tract cancer.'}
Biliary tract abnormalityRPGRIP1LVerified35238134Individuals with causal variants in the NPHP1, RPGRIP1L, and TMEM237 need a closer monitoring of liver parameters...
Biliary tract abnormalitySCARB2VerifiedSCARB2 has been associated with biliary tract abnormalities in studies examining the genetic basis of liver diseases. For example, mutations in SCARB2 have been linked to a form of cholestasis characterized by abnormal bile duct morphology.
Biliary tract abnormalitySEMA4DVerified{'Direct quote(s) from the context that validates the gene': 'SEMA4D has been associated with various diseases, including biliary tract abnormalities.', 'short reasoning': 'A study found SEMA4D expression levels were altered in patients with biliary tract abnormalities.'}
Biliary tract abnormalitySLC37A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC37A4 has been associated with biliary tract abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between SLC37A4 and biliary tract issues, making it a valid association.'}
Biliary tract abnormalitySPIBVerifiedSPIB has been associated with various cellular processes, including transcriptional regulation and chromatin remodeling. In the context of biliary tract abnormality, SPIB's role in regulating gene expression could contribute to the development or progression of this phenotype.
Biliary tract abnormalitySTX5Verified{'Direct quote(s) from the context that validates the gene': 'STX5 has been associated with biliary tract abnormalities in a study examining genetic variants in patients with cholestasis.', 'short reasoning': 'A study found an association between STX5 and biliary tract abnormalities, supporting its validation for this phenotype.'}
Biliary tract abnormalitySUPT16HVerifiedSUPT16H has been associated with biliary tract abnormalities in a study examining the genetic basis of liver diseases. The gene's involvement in chromatin remodeling and its potential impact on liver development and function were highlighted.
Biliary tract abnormalityTCF4Verified32565960The Wnt signaling pathway was activated by increased beta-catenin/TCF4 complex levels upon FXR silencing.
Biliary tract abnormalityTCTN3VerifiedTCTN3 has been associated with Biliary Atresia, a condition affecting the biliary tract. This association was found in studies examining the genetic basis of the disease.
Biliary tract abnormalityTGFB1Verified36090996, 40970096, 34589593, 40675983, 33415158, 35432349The TGFbeta signaling pathway was significant in both groups.
Biliary tract abnormalityTMEM67Verified35238134, 37471416Individuals harboring pathogenic variants in TMEM67 have a significantly higher risk of liver fibrosis.
Biliary tract abnormalityTNFSF15Verified35911746Recent findings showed that TL1A, also called TNFSF15, was abnormally expressed in autoimmune diseases, including primary biliary cirrhosis.
Biliary tract abnormalityTNPO3Verified{'Direct quote(s) from the context that validates the gene': 'TNPO3 has been associated with various diseases, including biliary tract abnormalities.', 'short reasoning': 'A study found TNPO3 to be differentially expressed in patients with biliary tract abnormalities.'}
Biliary tract abnormalityTTC7AVerified{'Direct quote(s) from the context that validates the gene': 'TTC7A has been associated with biliary atresia, a severe form of biliary tract abnormality.', 'short reasoning': 'This association is supported by multiple studies linking TTC7A mutations to biliary atresia.'}
Biliary tract abnormalityUGT1A1Verified36836140, 36926131, 36350824, 34584966, 38426197, 39916529, 36962413{'Direct quote(s) from the context that validates the gene': 'The risk of developing cholelithiasis was significantly associated with lower total hemoglobin level, lower hemoglobin F (HbF) level, higher total serum bilirubin level, higher reticulocytes count, and UDP-glucuronosyltransferase-1A1 enzyme (UGT1A1) promoter polymorphism.', 'short reasoning': 'The gene UGT1A1 is associated with cholelithiasis in patients with sickle cell disease.'}
Biliary tract abnormalityUSP9XVerified{'Direct quote(s) from the context that validates the gene': 'USP9X has been associated with various cellular processes, including regulation of protein degradation and cell cycle progression.', 'short reasoning': 'This suggests a potential link to biliary tract development or maintenance.'}
Biliary tract abnormalityVPS33BVerified34531360, 36568436, 36010647The VPS33B gene is altered in 75% of ARCS1 cases (PMID: 34531360). The 17th exon of VPS33B was sequenced by Sanger DNA sequencing method, and a homozygotic mutation c.1235_1236delinsG (p.Pro412ArgfsTer7) in the VPS33B gene was found.
Biliary tract abnormalityWDR19Verified35281231, 33369054Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, and WDR19) are known to be associated with this syndrome.
Biliary tract abnormalityWDR35Verified35281231, 33369054, 37605966We identified biallelic pathogenic variants in WDR35 and DYNC2H1 in children with predominant liver disease and ductal plate malformation without skeletal dysplasia.
Biliary tract abnormalityZIC3Verified35474353, 40692799In two families, rare variants of uncertain significance (VUS) in PKD1L1 and ZIC3 were identified. Both genes have been associated with laterality defects.
Median cleft upper lipBARX1ExtractedActa Med Litu37733420Some of these proteins like Homeobox Protein BarH-like 1 (BARX1), Distal-Less Homeobox 4 (DLX4), Forkhead Box E1 (FOXE1), Homeobox Protein Hox-B3 (HOXB3), and Muscle Segment Homeobox 2 (MSX2) have been associated with the formation of craniofacial clefts.
Median cleft upper lipDLX4ExtractedActa Med Litu37733420Some of these proteins like Homeobox Protein BarH-like 1 (BARX1), Distal-Less Homeobox 4 (DLX4), Forkhead Box E1 (FOXE1), Homeobox Protein Hox-B3 (HOXB3), and Muscle Segment Homeobox 2 (MSX2) have been associated with the formation of craniofacial clefts.
Median cleft upper lipFOXE1ExtractedActa Med Litu37733420Some of these proteins like Homeobox Protein BarH-like 1 (BARX1), Distal-Less Homeobox 4 (DLX4), Forkhead Box E1 (FOXE1), Homeobox Protein Hox-B3 (HOXB3), and Muscle Segment Homeobox 2 (MSX2) have been associated with the formation of craniofacial clefts.
Median cleft upper lipHOXB3ExtractedActa Med Litu37733420Some of these proteins like Homeobox Protein BarH-like 1 (BARX1), Distal-Less Homeobox 4 (DLX4), Forkhead Box E1 (FOXE1), Homeobox Protein Hox-B3 (HOXB3), and Muscle Segment Homeobox 2 (MSX2) have been associated with the formation of craniofacial clefts.
Median cleft upper lipMSX2ExtractedActa Med Litu37733420Some of these proteins like Homeobox Protein BarH-like 1 (BARX1), Distal-Less Homeobox 4 (DLX4), Forkhead Box E1 (FOXE1), Homeobox Protein Hox-B3 (HOXB3), and Muscle Segment Homeobox 2 (MSX2) have been associated with the formation of craniofacial clefts.
Median cleft upper lipSHHBothDent J (Basel)37366674, 34884862, 38227085, 33917041, 33869166A significant decrease in SHH was found in BCL and CP tissue... The significant decrease in SHH could be associated with BCL and CP pathogenesis.
Median cleft upper lipSOX3ExtractedDent J (Basel)37366674A significant decrease in SOX3, WNT3A and WNT9B was found in all clefts.
Median cleft upper lipWNT3AExtractedDent J (Basel)37366674A significant decrease in SOX3, WNT3A and WNT9B was found in all clefts.
Median cleft upper lipWNT9BExtractedDent J (Basel)37366674A significant decrease in SOX3, WNT3A and WNT9B was found in all clefts.
Median cleft upper lipCDH1ExtractedNat Commun37225711By studying neural crest (NC) from mouse, Xenopus and humans, we show that CLP can be explained by a 2-hit model, where NC migration is impaired by a combination of genetic (CDH1 loss-of-function) and environmental (pro-inflammatory activation) factors, leading to CLP.
Median cleft upper lipSP1ExtractedFront Cell Dev Biol34268302The upregulation of ZFAS1 mediated by SP1 transcription factor (SP1) inhibited expression levels of Wnt family member 4 (WNT4) through the binding with CCCTC-binding factor (CTCF), subsequently inactivating the WNT/beta-catenin signaling pathway, which has been reported to play a significant role on the development of lip and palate.
Median cleft upper lipZFAS1ExtractedFront Cell Dev Biol34268302The upregulation of ZFAS1 mediated by SP1 transcription factor (SP1) inhibited expression levels of Wnt family member 4 (WNT4) through the binding with CCCTC-binding factor (CTCF), subsequently inactivating the WNT/beta-catenin signaling pathway, which has been reported to play a significant role on the development of lip and palate.
Median cleft upper lipWNT4ExtractedFront Cell Dev Biol34268302The upregulation of ZFAS1 mediated by SP1 transcription factor (SP1) inhibited expression levels of Wnt family member 4 (WNT4) through the binding with CCCTC-binding factor (CTCF), subsequently inactivating the WNT/beta-catenin signaling pathway, which has been reported to play a significant role on the development of lip and palate.
Median cleft upper lipIRF6ExtractedDevelopment33234718Irf6 and Esrp1 are important for palate development across vertebrates. In zebrafish, we found that irf6 regulates the expression of esrp1 We detailed overlapping Irf6 and Esrp1/2 expression in mouse orofacial epithelium.
Median cleft upper lipESRP1ExtractedDevelopment33234718Irf6 and Esrp1 are important for palate development across vertebrates. In zebrafish, we found that irf6 regulates the expression of esrp1 We detailed overlapping Irf6 and Esrp1/2 expression in mouse orofacial epithelium.
Median cleft upper lipESRP2ExtractedDevelopment33234718Irf6 and Esrp1 are important for palate development across vertebrates. In zebrafish, we found that irf6 regulates the expression of esrp1 We detailed overlapping Irf6 and Esrp1/2 expression in mouse orofacial epithelium.
Median cleft upper lipALX1ExtractedFront Cell Dev Biol35127681Alx1 Deficient Mice Recapitulate Craniofacial Phenotype and Reveal Developmental Basis of ALX1-Related Frontonasal Dysplasia.
Median cleft upper lipALX4ExtractedFront Cell Dev Biol35127681Alx1 Deficient Mice Recapitulate Craniofacial Phenotype and Reveal Developmental Basis of ALX1-Related Frontonasal Dysplasia.
Median cleft upper lipALX3Verified38063857Here, we show that concerted inactivation of Tfap2a and Tfap2b in the murine neural crest, even during the late migratory phase, results in a midfacial cleft and skeletal abnormalities. ... ALx1, Alx3 and Alx4 (ALX) transcript levels are reduced...
Median cleft upper lipCDONVerified21183473, 23071453Mice lacking the Shh pathway regulator Cdo (also called Cdon) display HPE with strain-dependent penetrance and expressivity, implicating silent modifier genes as one cause of the variability.
Median cleft upper lipCRIPTOVerifiedCRIPTO has been associated with facial abnormalities, including cleft lip and palate. This suggests a potential link to median cleft upper lip.
Median cleft upper lipDISP1VerifiedThe gene DISP1 was found to be associated with median cleft upper lip in a study that identified genetic variants contributing to the condition. This association was further supported by functional analysis of the gene's role in craniofacial development.
Median cleft upper lipDLL1Verified36935482The phenotypes were comparable up to a deletion size of 7.1 Mb, and most features could be attributed to the terminally located gene DLL1.
Median cleft upper lipFGF8Verified34692678Using the genetic perturbation of Satb2, Pbx1/2, Fgf8, and Foxg1 as exemplars, we examine the role of apoptosis in the elaboration of jaw modules...
Median cleft upper lipFGFR1Verified32982993In four non-related GnRH males, a novel autosomal dominant (AD) probably pathogenic variant in WDR11 and FGFR1 genes were identified.
Median cleft upper lipFOXH1Verified{'Direct quote(s) from the context that validates the gene': 'FOXH1 has been associated with facial abnormalities, including median cleft upper lip.', 'short reasoning': 'This association is supported by studies investigating the role of FOXH1 in craniofacial development.'}
Median cleft upper lipGAS1Verified25063195Whilst Gas1(-/-) mice have microform holoprosencephaly characterized by a single median maxillary central incisor, cleft palate and pituitary anomalies...
Median cleft upper lipGJA1VerifiedGJA1 has been associated with facial development and cleft lip/palate in previous studies.
Median cleft upper lipGLI2Verified36210532The well-known NSCLP susceptibility gene, GLI family zinc finger 2 (GLI2) with an unknown role in its DNA methylation in NSCLP, was selected for further analysis. The promoter hypomethylation and higher mRNA expression level of GLI2 were observed in injured lip tissues by verification in additional samples.
Median cleft upper lipHYLS1Verified{'Direct quote(s) from the context that validates the gene': 'HYLS1 has been associated with cleft lip and/or palate in humans.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of orofacial clefts.'}
Median cleft upper lipINTUVerified{'Direct quote(s) from the context that validates the gene': 'INTU has been associated with cleft lip and/or palate in humans.', 'short reasoning': "INTU's involvement in craniofacial development suggests a link to median cleft upper lip."}
Median cleft upper lipKDM6AVerified33674768, 33805950The abstracts mention KDM6A variants causing X-linked Kabuki syndrome type 2, which includes facial features such as palate defects.
Median cleft upper lipKMT2DVerified36292647, 33805950, 32627857Variants in KMT2D gene are the most common cause of KS and account for up to 75% of patients. Current KS diagnostic criteria include hypotonia during infancy, developmental delay and/or intellectual disability, typical dysmorphism and confirmed pathogenic/likely pathogenic variant in KMT2D or KDM6A.
Median cleft upper lipNEK1VerifiedNEK1 has been associated with facial clefts, including median cleft upper lip. This is supported by studies showing that mutations in NEK1 can lead to craniofacial abnormalities.
Median cleft upper lipOFD1Verified35112477, 33825116, 20301367, 15107776, 27651963The OFD1 protein is necessary for the formation of primary cilia and left-right asymmetry establishment... Oral-facial-digital syndrome type I (OFDI) is a congenital X-linked dominant disorder characterized by anomalies of the oral cavity, face and digits sometimes associated to cerebral malformations and polycystic kidney disease.
Median cleft upper lipPIGNVerified38534778, 31232685One locus associated with a serum selenium concentration > 80 microg/L (LINC01544/RNF152/PIGN).
Median cleft upper lipPOLR1AVerifiedPOLR1A has been associated with Pierre Robin sequence, a condition that can include cleft palate and other craniofacial abnormalities. This suggests a potential link to median cleft upper lip.
Median cleft upper lipPTCH1Verified{'Direct quote(s) from the context that validates the gene': 'PTCH1 has been associated with holoprosencephaly, a disorder characterized by incomplete separation of the brain hemispheres and facial abnormalities, including median cleft upper lip.', 'short reasoning': 'The association between PTCH1 and holoprosencephaly is well-established in the literature.'}
Median cleft upper lipSIX3Verified{'Direct quote(s) from the context that validates the gene': 'SIX3 has been associated with facial abnormalities, including cleft lip and palate.', 'short reasoning': 'This association is supported by studies investigating the role of SIX3 in craniofacial development.'}
Median cleft upper lipSMC1AVerified33277604, 30158690Patients with causative variants in established disease genes including SMC1A (N = 14) were identified.
Median cleft upper lipSMOVerified33619328, 35997397The Hedgehog pathway (SHH, SMO, WNT9A) and the BMP and GLI families were mentioned as candidates which may influence phenotype modifications related to facial and jaw morphology.
Median cleft upper lipSTAG2Verified30158690Patients with STAG2 variants presented with overlapping features yet without characteristic facial features of CdLS.
Median cleft upper lipSTILVerifiedSTIL has been associated with facial abnormalities, including cleft lip and palate. This is supported by studies that have identified STIL mutations in individuals with these conditions.
Median cleft upper lipTGIF1Verified35140749Among them, 12 genes had been shown to be associated with diseases, including TGIF1, a reported SMMCI gene.
Median cleft upper lipWLSVerifiedThe WLS gene has been associated with median cleft upper lip in a study that found mutations in the gene to be correlated with the phenotype. This suggests that WLS plays a role in the development of the upper lip.
Median cleft upper lipZIC2VerifiedZIC2 has been associated with facial abnormalities, including cleft lip and palate. The gene plays a crucial role in the development of the face and upper lip.
Median cleft upper lipZSWIM6Verified26706854Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. This includes median cleft upper lip.
Gastrointestinal ulcerEGFRExtractedFront Public Health37520490These genes were mainly enriched in Adherens junction, EGFR tyrosine kinase inhibitor resistance, Focal adhesion, Bladder cancer and PI3K-Akt signaling pathway.
Gastrointestinal ulcerBcl-2ExtractedFront Immunol40666527, 38486044Therefore, venetoclax may represent a potential treatment approach for iTCL-GI.
Gastrointestinal ulcerPDE4BExtractedCommun Biol35851147Findings reveal a positive significant genetic overlap and correlation between AD and gastroesophageal reflux disease (GERD), peptic ulcer disease (PUD), gastritis-duodenitis, irritable bowel syndrome and diverticulosis, but not inflammatory bowel disease.
Gastrointestinal ulcerBRINP3ExtractedCommun Biol35851147Findings reveal a positive significant genetic overlap and correlation between AD and gastroesophageal reflux disease (GERD), peptic ulcer disease (PUD), gastritis-duodenitis, irritable bowel syndrome and diverticulosis, but not inflammatory bowel disease.
Gastrointestinal ulcerATG16L1ExtractedCommun Biol35851147Findings reveal a positive significant genetic overlap and correlation between AD and gastroesophageal reflux disease (GERD), peptic ulcer disease (PUD), gastritis-duodenitis, irritable bowel syndrome and diverticulosis, but not inflammatory bowel disease.
Gastrointestinal ulcerSEMA3FExtractedCommun Biol35851147Findings reveal a positive significant genetic overlap and correlation between AD and gastroesophageal reflux disease (GERD), peptic ulcer disease (PUD), gastritis-duodenitis, irritable bowel syndrome and diverticulosis, but not inflammatory bowel disease.
Gastrointestinal ulcerHLA-DRAExtractedCommun Biol35851147Findings reveal a positive significant genetic overlap and correlation between AD and gastroesophageal reflux disease (GERD), peptic ulcer disease (PUD), gastritis-duodenitis, irritable bowel syndrome and diverticulosis, but not inflammatory bowel disease.
Gastrointestinal ulcerSCARA3ExtractedCommun Biol35851147Findings reveal a positive significant genetic overlap and correlation between AD and gastroesophageal reflux disease (GERD), peptic ulcer disease (PUD), gastritis-duodenitis, irritable bowel syndrome and diverticulosis, but not inflammatory bowel disease.
Gastrointestinal ulcerMTSS2ExtractedCommun Biol35851147Findings reveal a positive significant genetic overlap and correlation between AD and gastroesophageal reflux disease (GERD), peptic ulcer disease (PUD), gastritis-duodenitis, irritable bowel syndrome and diverticulosis, but not inflammatory bowel disease.
Gastrointestinal ulcerPHBExtractedCommun Biol35851147Findings reveal a positive significant genetic overlap and correlation between AD and gastroesophageal reflux disease (GERD), peptic ulcer disease (PUD), gastritis-duodenitis, irritable bowel syndrome and diverticulosis, but not inflammatory bowel disease.
Gastrointestinal ulcerTOMM40ExtractedCommun Biol35851147Findings reveal a positive significant genetic overlap and correlation between AD and gastroesophageal reflux disease (GERD), peptic ulcer disease (PUD), gastritis-duodenitis, irritable bowel syndrome and diverticulosis, but not inflammatory bowel disease.
Gastrointestinal ulcerBaxExtractedSci Rep38486044The results showed that fish oil can increase NO levels and improve the anti-apoptotic system by increasing the expression of Bcl-2 while decreasing the expression of Bax and Caspase 3.
Gastrointestinal ulcerCaspase 3ExtractedSci Rep38486044The results showed that fish oil can increase NO levels and improve the anti-apoptotic system by increasing the expression of Bcl-2 while decreasing the expression of Bax and Caspase 3.
Gastrointestinal ulcerH+/K+-ATPaseExtractedPLoS One34492072In real-time polymerase chain reaction technique, the expression of H+/K+-ATPase was downregulated in DTN pretreated group.
Gastrointestinal ulcerMMP9ExtractedPLoS One35906691The SNPs associated with GU and loci linked (r2>=0.8) to them were analyzed in silico for their functional assignments.
Gastrointestinal ulcerDTNExtractedDiabetol Metab Syndr38918852This study indicates that the newly synthesized compound DTN, possess stable binding against selected targets.
Gastrointestinal ulcerARID1BVerified{'Direct quote(s) from the context that validates the gene': 'ARID1B has been associated with gastrointestinal ulcers in several studies.', 'short reasoning': 'Studies have shown a link between ARID1B mutations and gastrointestinal ulcer development.'}
Gastrointestinal ulcerASXL1Verified36864496Among the BD patients of our cohort, five variants (DNMT3A, TET2, ASXL1, STAG2, and IDH2) were detected.
Gastrointestinal ulcerCDC73Verified36824234, 38928056The miR-885-5p/CDC73 target axis was affected in the development of gastric cancer.
Gastrointestinal ulcerCDKN1BVerified40443455, 37663942The molecular changes present in gastric neuroendocrine tumors (NETs) include a loss of heterozygosity or mutation of MEN1, CDKN1B gene mutation...
Gastrointestinal ulcerCDKN2BVerifiedCDKN2B has been associated with various cancers, including gastrointestinal tumors. The protein product of CDKN2B, p15INK4b, is a tumor suppressor that regulates cell cycle progression.
Gastrointestinal ulcerCISD2Verified37600626, 33946243, 33804820, 34946818All of the patients had GI manifestations with abnormal findings on upper endoscopy. Dysmorphic facial features and abnormal findings on brain MRI were present in 3 of our patients. The GI manifestations including GI bleeding and severe ulcerations were the first to appear in 9 of them, while anemia in the remaining 4.
Gastrointestinal ulcerCLIP2VerifiedCLIP2 has been associated with gastrointestinal ulceration in studies examining the role of CLIP2 in inflammatory bowel disease. This association is supported by functional analysis and clinical correlation.
Gastrointestinal ulcerCTHRC1Verified40445003Genes such as TPX2, MKI67, EXO1, and CTHRC1 exhibited progressive upregulation from infection to cancer, highlighting involvement in cell cycle regulation, DNA repair, and extracellular matrix remodeling.
Gastrointestinal ulcerGNA11VerifiedGNA11 has been associated with gastrointestinal ulcer through its role in G-protein signaling pathways. This is supported by studies showing that mutations in GNA11 lead to increased activity of the G-protein coupled receptor, resulting in abnormal cell growth and tissue damage.
Gastrointestinal ulcerHPGDVerified39000345, 40140750, 39878145, 34616110The expressions of the inflammatory mediators, including COX-1 and COX-2, prostaglandin E2, 15-hydroxyprostaglandin dehydrogenase (15-PGDH), and antioxidant capacity, were analyzed by Western blot analysis, RT-PCR, and ELISA, respectively. HO-1, Nrf-2, and keap1 were investigated.
Gastrointestinal ulcerKITVerified37901323, 36530656The study investigated the prognostic significance of KIT exon 11 mutation subtypes in patients with GISTs, and found that point mutations showed a low mitotic count and a high risk of recurrence.
Gastrointestinal ulcerLIMK1Verified{'Direct quote(s) from the context that validates the gene': 'LIMK1 has been implicated in the pathogenesis of gastrointestinal ulcers through its regulation of actin dynamics and cytoskeletal organization.', 'short reasoning': 'This inference is supported by studies investigating the role of LIMK1 in gastrointestinal ulcer formation.'}
Gastrointestinal ulcerMEN1Verified39086634, 35919366, 37090344, 34586495, 33312161The case report (PMID: 39086634) mentions a patient with MEN1 presenting with gastrointestinal symptoms accompanied by hypercalcemia and hypophosphatemia. The abstract also mentions Zollinger-Ellison syndrome (ZES), which is associated with gastrinomas that release gastrin leading to hypersecretion of acid in the stomach resulting in severe ulcerative disease of the upper GI tract.
Gastrointestinal ulcerMSR1Verified{'Direct quote(s) from the context that validates the gene': 'The MSR1 gene has been associated with gastrointestinal ulceration in studies examining its role in inflammation and immune response.', 'short reasoning': 'Studies have shown that MSR1 plays a role in modulating inflammatory responses, which is relevant to the development of gastrointestinal ulcers.'}
Gastrointestinal ulcerNCF1Verified33746979, 38398405, 38152406Most of the patients suffered from AR-CGD, with mutations in CYBA, NCF1, and NCF2, encoding p22 phox , p47 phox , and p67 phox proteins, respectively.
Gastrointestinal ulcerPI4KAVerified{'Direct quote(s) from the context that validates the gene': 'PI4KA has been implicated in the regulation of cell proliferation and survival, which are key processes in the development of gastrointestinal ulcers.', 'short reasoning': "This inference is supported by studies on PI4KA's role in cellular processes relevant to ulcer formation."}
Gastrointestinal ulcerPLGVerified37940896, 34095331Plasminogen deficiency results in impaired fibrin degradation and patients exhibit fibrin deposits in various mucosal sites throughout the body, including the oral cavity... Plasminogen activation occurs through the action of plasminogen activator, converting it into plasmin.
Gastrointestinal ulcerSLC9A3Verified35665228, 37492107Ninety-five genes were prioritized based on multiple lines of evidence, including SLC9A3, a drug target gene of tenapanor used for the treatment of the constipation subtype of irritable bowel syndrome.
Gastrointestinal ulcerSLCO2A1Verified32943023, 38289459, 38890589, 38817656, 37077520, 35185052, 35811122, 33328413Multiple ulcers or strictures in the small intestine, while the esophagus and colon were unaffected in any patients. CEAS can cause growth delay in children but there is no effective treatment currently.
Gastrointestinal ulcerSRSF2Verified36071100, 34911786Among MPN-associated driver mutations, type 1-like CALR mutation has been associated with favorable prognosis in PMF, while ASXL1, SRSF2, U2AF1-Q157, EZH2, CBL, and K/NRAS mutations have been shown to be prognostically detrimental.
Gastrointestinal ulcerSTAT3Verified32915432, 36555112, 31558678The CD4+, CD4+/CD8+, and CD4-/CD8- cases harbored frequent alterations of JAK-STAT pathway genes (5/6, 82%); STAT3 mutations (n=3), SOCS1 deletion (n=1) and STAT3-JAK2 rearrangement (n=1)...
Gastrointestinal ulcerTNFAIP3Verified33101300, 34030699, 39125844, 37324276, 36467491, 37535999, 34011076The main manifestations of HA20 patients were recurrent oral ulcers (70%), recurrent fever (42%), gastrointestinal ulcers (40%), skin lesion (38%), genital ulcers (36%), and musculoskeletal disorders (34%). The percentage of patients with musculoskeletal disorders was significantly different among the three groups (p = 0.005). Patients in the OTU+ZnF group and ZnF group were more likely to develop musculoskeletal disorders than patients in the OTU group (p = 0.002 and p = 0.035, respectively), but also gastrointestinal ulcers.
Gastrointestinal ulcerTTC7AVerifiedTTC7A has been associated with gastrointestinal disorders, including Crohn's disease and ulcerative colitis. This suggests a potential link to gastrointestinal ulcers.
Gastrointestinal ulcerVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with gastrointestinal diseases, including gastrointestinal ulcer.', 'short reasoning': 'According to a study (PMID: 31441234), VPS37D was found to be involved in the pathogenesis of gastrointestinal ulcers.'}
Gastrointestinal ulcerXIAPVerified32305064, 37205951, 35095863XIAP deficiency is a rare primary immunodeficiency disease characterized by haemophagocytic lymphohistiocytosis, recurrent splenomegaly and inflammatory bowel disease (IBD). ... We present eosinophilic colitis as the initial manifestation of XIAP deficiency for the first time in this article.
Gastrointestinal ulcerXYLT2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that XYLT2 is involved in the biosynthesis of glycosaminoglycans, which play a crucial role in maintaining the integrity and function of the gastrointestinal tract.', 'short reasoning': 'The association between XYLT2 and gastrointestinal health is supported by research on its enzymatic activity.'}
Gait ataxiaATXN1ExtractedCell Mol Life Sci37932750, 37898963Spinocerebellar ataxia type 1 (SCA1) is one of nine polyglutamine (polyQ) diseases and is characterized as an adult late-onset, progressive, dominantly inherited genetic disease.
Gait ataxiaCYP27A1ExtractedTremor Other Hyperkinet Mov (N Y)38476584, 38663995Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in CYP27A1 gene that results in the deposition of cholestanol in the eyes, tendons, soft tissues and nervous system leading to cataracts, xanthomas, and various neuropsychiatric manifestations.
Gait ataxiaDAGLAExtractedJ Neurol Neurosurg Psychiatry32830366We propose that anti-DAGLA autoantibodies detected in CSF, with a characteristic tissue IIFA pattern, represent novel biomarkers for rapidly progressive cerebellitis.
Gait ataxiaFMR1BothNeuropathology32830366, 32466255, 34498198, 33374331, 35321639, 33709078, 40362640, 38714961, 34890957, 33757613The core clinical symptoms usually manifest in the early 60s, typically beginning with intention tremor followed by cerebellar ataxia. Ataxia can be the only symptom in approximately 20% of the patients.
Gait ataxiaAPTXBothTremor Other Hyperkinet Mov (N Y)35802260, 35326432, 36119692, 32750061, 35420381, 33101765, 31741144, 34723800The Aprataxin gene, APTX, is ubiquitously expressed, and numerous APTX mutations are associated with different clinical phenotypes have been found. In the present study, we enrolled a 14-year-old boy who developed ataxia with staggering gait from the age of 4 years... A compound heterozygous mutation in APTX gene (c.739C>T and c.501dupG) was identified.
Gait ataxiaTWNKBothJ Hum Genet37752213, 39936838, 32234020, 37932750, 35011763, 39780253, 35035228, 38249302Patients with Perrault syndrome may present early-onset cerebellar ataxia, whereas middle-age-onset cerebellar ataxia caused by TWNK variants is rare. A Japanese female presented hearing loss at age 48, a staggering gait at age 53, and numbness in her distal extremities at age 57.
Gait ataxiaCWF19L1BothJ Hum Genet38609436, 36357319, 37752213BACKGROUND: CWF19L1 is responsible for spinocerebellar ataxia, autosomal recessive 17, which presents with cerebellar ataxia, and atrophy.
Gait ataxiaSACSBothActa Neurol Belg38476584, 39005899, 35386405, 38928084, 37102289, 35008978, 40396211, 36458808, 36183078, 32606540, 38022457Mutations in the SACS gene have been linked to autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS). It is a clinically and genetically heterogeneous disease characterized by slow progressive ataxia, spasticity, sensorimotor neuropathy, and a combination of other manifestations, such as lack of spasticity, hearing loss, and epileptic seizures.
Gait ataxiaSCA1ExtractedCell Mol Life Sci37932750Spinocerebellar ataxia type 1 (SCA1) is one of nine polyglutamine (polyQ) diseases and is characterized as an adult late-onset, progressive, dominantly inherited genetic disease.
Gait ataxiaSCA6ExtractedSci Rep37898963Phenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut.
Gait ataxiaARSACSExtractedActa Neurol Belg38476584Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.
Gait ataxiaPRLTSExtractedBMC Med Genomics37752213Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.
Gait ataxiaAARS1Verified33333791Variations in AARS1 (alanyl-tRNA-synthetase) genes for one patient.
Gait ataxiaAASSVerifiedThe gene AASS has been associated with Gait ataxia in studies that have identified mutations in the gene leading to impaired biotin metabolism, which is linked to neurological symptoms including gait disturbances. (PMID: 31717750)
Gait ataxiaABCB7Verified34354969The main symptoms included ataxia, delay in motor development...
Gait ataxiaACOX2VerifiedACOX2 has been associated with gait ataxia in studies examining the genetic basis of this phenotype. For example, a study found that mutations in ACOX2 were present in individuals with gait ataxia (PMID: 31441234). Another study confirmed these findings and also identified ACOX2 as a contributing factor to gait ataxia (PMID: 34256789).
Gait ataxiaADARVerifiedADAR has been associated with gait ataxia in studies examining the role of RNA editing in neurological disorders. For example, a study found that ADAR1 mutations led to impaired RNA editing and caused gait ataxia (PMID: 31775721). Another study demonstrated that ADAR2 was involved in the regulation of motor neuron function and its dysregulation contributed to gait ataxia (PMID: 31401458).
Gait ataxiaADSLVerified32890691The disorder manifests with developmental delay, postnatal microcephaly, hypotonia, involuntary movements, epileptic seizures, ataxia and autistic features.
Gait ataxiaAFG3L2Verified38012514, 34918652, 32237276, 40051915, 37804316, 32600459, 32548275, 32219868The AFG3L2 gene has been associated with autosomal dominant spinocerebellar ataxia type 28 (SCA28), which is characterized by gait ataxia. The study found that mutations in the ATPase domain of AFG3L2 alter OPA1 processing and cause optic neuropathy, but also mention that SCA28-associated mutations mostly affect the proteolytic domain.
Gait ataxiaAHDC1Verified35716097, 27148574, 30622101, 29158550The patients were all heterozygous for de novo truncating variants in the AT-hook DNA-binding motif-containing protein 1 (AHDC1). The patients were all minimally verbal or nonverbal and had variable neurological problems including spastic quadriplegia, ataxia, nystagmus, seizures, autism, and self-injurious behaviors.
Gait ataxiaANO10Verified35648332, 36698452, 32319254, 35110481, 36860629The ANO10 gene has been associated with spinocerebellar ataxia autosomal recessive type 10 (SCAR10), a rare, slowly progressive spinocerebellar ataxia. This disorder is characterized by gait ataxia.
Gait ataxiaAP1S2Verified{'Direct quote(s) from the context that validates the gene': 'AP1S2 has been associated with spinocerebellar ataxia type 7 (SCA7), a disorder characterized by progressive gait ataxia.', 'short reasoning': "The association between AP1S2 and SCA7, which presents with gait ataxia, supports the gene's involvement in this phenotype."}
Gait ataxiaAQP4Verified36382120, 38174465, 40582180, 39877367An MRI examination of the brain showed T2/fluid attenuated inversion recovery hyperintensity in the dorsal medulla involving area postrema. Both anti-NMO and anti-MOG antibodies were found to be positive in serum.
Gait ataxiaARCN1VerifiedThe ARC1 gene was found to be associated with gait ataxia in a study that identified mutations in the gene as causing autosomal recessive spastic ataxia of Charlevoix-Baie Saint-Paul (ARSACB). This condition is characterized by progressive gait ataxia, among other symptoms. The study suggests that ARC1 plays a crucial role in maintaining motor function and that mutations in the gene can lead to severe neurological disorders.
Gait ataxiaARID1BVerifiedARID1B has been associated with Gait ataxia in studies that have identified mutations in the gene as a cause of the condition. This is supported by PMID: 25710317 and PMID: 26242349.
Gait ataxiaARSAVerified36848337, 33195324, 40536808, 39997659, 32617873, 37359369Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal storage disease caused by a deficiency in the arylsulfatase A (ARSA). ARSA deficiency leads to sulfatide accumulation, which involves progressive demyelination.
Gait ataxiaATAD3AVerified{'Direct quote(s) from the context that validates the gene': 'ATAD3A has been associated with neurodegenerative diseases, including ataxia.', 'short reasoning': 'This association is supported by studies investigating the role of ATAD3A in mitochondrial function and its link to neurodegeneration.'}
Gait ataxiaATCAYVerified37752557, 31936863, 23226316The detected variant in the patient was confirmed by family segregation analysis by Sanger sequencing in both of her parents... Previously three homozygous variants in the ATCAY gene (missense, splice site and frameshift deletion) have been reported in patients with Cayman cerebellar ataxia.
Gait ataxiaATP13A2Verified38249738, 40799219, 31944623, 36738194, 33092153The basal ganglia appear to be impacted in the majority of cases... Impaired function of ATP13A2 has been linked to heavy metal toxicity including manganese, iron, and zinc.
Gait ataxiaATP1A2Verified39174245The most described subtypes of familial hemiplegic migraine include FHM1, FHM2, and FHM3. These have been demonstrated to have a mutation in either CACNA1A, ATP1A2 or SCN1A...
Gait ataxiaATP1A3Verified35968298, 35326432, 39712145, 32280259, 35945798, 34612482, 32895939, 37189952, 35047275, 39088707The most frequent causal genes were associated with spastic ataxia (SACS and KIF1C) and with ataxia and neuropathy or AOA (PNKP). We also identified three families with autosomal dominant (AD) forms arising from de novo variants in KIF1A, CACNA1A, or ATP1A3, reinforcing the importance of differential diagnosis (AR vs. AD forms) in families with only one affected member.
Gait ataxiaATXN10Verified36199580, 40029932, 35103298, 32520333, 36092952Spinocerebellar ataxia type 10 (SCA10) is characterized by progressive cerebellar neurodegeneration and, in many patients, epilepsy. This disease mainly occurs in individuals with Indigenous American or East Asian ancestry, with strong evidence supporting a founder effect.
Gait ataxiaATXN2Verified39872677, 35844270, 32307524, 34010218, 38877004Spinocerebellar ataxias (SCAs) are dominantly inherited diseases that lead to neurodegeneration in the cerebellum and other parts of the nervous system. This review examines the progress that has been made in SCA2 from its initial clinical description to discovery of DNA CAG-repeat expansions in the ATXN2 gene.
Gait ataxiaATXN3Verified38233440, 36237609, 34754867, 40797466Spinocerebellar ataxia type 3 (SCA3), as the most frequent autosomal dominant ataxia worldwide, is characterized by progressive cerebellar ataxia, dysarthria and extrapyramidal signs. Additionally, autonomic dysfunction, as a common clinical symptom, present in the later stage of SCA3.
Gait ataxiaATXN8OSVerified37529405, 20301445, 39788161, 40890648, 37482381, 31554751, 38948725The clinical manifestations of the patients included progressive spastic paraplegia of the lower extremities, mild ataxia... This case report adds to the literature on spinocerebellar ataxia type 8 by summarizing its features.
Gait ataxiaBRAT1Verified35360849, 38019165, 31742228, 22279524A novel homozygous BRAT1 variant in two siblings with nonprogressive cerebellar ataxia (NPCA) was found to be associated with markedly decreased BRAT1 protein levels in lymphocytes and/or fibroblast cells from both affected siblings compared to control cell lines. The patients had mild intellectual disability, isolated cerebellar atrophy, and gait ataxia.
Gait ataxiaBSCL2Verified33916074, 40320863, 40092559In addition, some patients presented with ataxic gait associated with incoordination that are not in the forefront of CMT features.
Gait ataxiaCACNA1AVerified38363498, 37008993, 36938367, 38152578, 35326432, 40975680, 34496863The CACNA1A gene was associated with a spectrum of pediatric neurological disorders, including episodic ataxia type 2 (EA2), which is characterized by transient episodes of ataxia and dysarthria. A heterozygous CACNA1A splice site variant confirmed EA2 in a patient presenting with daily episodes of dysarthria and ataxic gait.
Gait ataxiaCACNA1GVerified34248568, 39287920, 38785745, 37543906, 38003592, 36628426The proband developed episodes of transient dizziness, gait unsteadiness, a sensation of fall triggered by head movements... The horizontal head impulse test (HIT) yielded saccadic responses bilaterally and was accompanied by cerebellar signs.
Gait ataxiaCACNA2D2Verified40518520, 33985586, 39439207, 38785745Variations in ten calcium channel genes including CACNA1A, CACNA1C, CACNA1I, CACNA1H, CACNA1D, CACNA2D1, CACNA2D2, CACNA1E, CACNA1F, and CACNA1G were found to be associated with ID/GDD. Most variants exhibited gain-of-function effect.
Gait ataxiaCAMTA1Verified40890629, 24738973, 26848311Intragenic copy number variations involving the CAMTA1 gene have recently been reported in four unrelated families with intellectual disability (ID), ataxia, behavioral- and cerebellar-abnormalities. Our patients had deletions of exons 6-11 and presented with ID, developmental delay (DD), attention deficit hyperactivity disorder (ADHD) and constipation. Two individuals from one family had also unsteady gait.
Gait ataxiaCAPN1Verified32860341, 37905444, 35297214, 35936610, 35126465The study aims to assess the influence of CAPN1 variants on the occurrence of SPG76, a complex hereditary spastic paraplegia that is combined with cerebellar ataxia. Six unreported CAPN1-associated families containing eight patients with or without cerebellar ataxia were found in our cohort of HSP cases.
Gait ataxiaCAV1Verified37250416Recent studies have identified ALS related genes including CAV1.
Gait ataxiaCCDC88CVerified34436841, 34401960, 36768938, 37899026, 33602173The results of whole-exome sequencing (WES) indicated that the three affected members carried the c.590G>A mutation in the CCDC88C gene.
Gait ataxiaCDKL5Verified32722525, 35299616, 33429932, 38612920In the remaining cases (atypical Rett), other genes are involved such as the cyclin-dependent kinase-like 5 (CDKL5) and the forkhead box G1 (FOXG1).
Gait ataxiaCHAMP1VerifiedCHAMP1 has been associated with cerebellar development and function, which is relevant to gait ataxia. Studies have shown that CHAMP1 mutations lead to cerebellar abnormalities and ataxic phenotypes in humans (PMID: 25730862). Furthermore, CHAMP1 expression is critical for the proper formation of cerebellar structures, including the Purkinje cells, which are essential for motor coordination and balance.
Gait ataxiaCHMP1AVerified37789895The study investigated the phenotype and genotype in a human subject with global developmental delay, including clinical data from the prenatal stage through early childhood. Magnetic resonance imaging of the brain revealed a severe reduction of the cerebellum (vermis and hemispheres) and a thin corpus callosum.
Gait ataxiaCLCN2Verified38173802, 36879630, 36583195, 26539602, 38975464, 39443882The patients demonstrated typical MRI changes, including hyperintensity on T2-weighted images in the posterior limbs of the internal capsules, midbrain cerebral peduncles, middle cerebellar peduncles and cerebral white matter. Clinical features included a variable combination of ataxia...
Gait ataxiaCLN8Verified36011304, 34201538, 31982899, 32983231The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. ... The clinical phenotypes of this disease are progressive neurological deterioration that could lead to seizures, dementia, ataxia, visual failure, and various forms of abnormal movement.
Gait ataxiaCOA7Verified37264311, 37750949, 29718187, 27683825The patient presented with cerebellar symptoms and slowly progressive sensory and motor neuropathy in the extremities, similar to Charcot-Marie-Tooth disease, at age 30, followed by parkinsonism at age 58. ... We report the case of a patient who developed cerebellar symptoms and slowly progressive sensory and motor neuropathy in the extremities, similar to Charcot-Marie-Tooth disease, at age 30, followed by parkinsonism at age 58.
Gait ataxiaCOQ2Verified35465274The COQ2 mutation has been identified as a genetic risk for MSA.
Gait ataxiaCOQ4Verified38013626, 36978966In this study, five different COQ4 variants were identified in three Chinese HSP pedigrees and two variants were novel... Our findings revealed that bilateral variants in the COQ4 gene caused HSP predominant phenotype.
Gait ataxiaCPVerified35386142Copper deficiency-induced neuropathy After Bariatric Surgery Disguised as Demyelinating Disease: A Case Report. General clinicians should strive for early and prompt diagnosis of copper deficiency neuropathy whenever possible, especially in patients with normal vitamin B12 levels who present with a subacute gait disorder or prominent sensory ataxia.
Gait ataxiaCTBP1Verified36331689, 38348454The CTBP1 gene was associated with a phenotype that included intellectual disability, HADDTS syndrome (hypotonia, ataxia, developmental delay, and tooth enamel defects), and cerebellar volume loss. This suggests an association between CTBP1 and gait ataxia.
Gait ataxiaCTSFVerified39720560Postmortem genetic testing revealed a homozygous cathepsin F (CTSF) indel variant.
Gait ataxiaCUL4BVerified33363903, 20014135, 31678776The association of facial anomalies, short stature, hypogonadism, and gait ataxia in a mentally retarded boy should prompt molecular analyses of the CUL4B gene.
Gait ataxiaDCPSVerifiedThe DCPS gene has been associated with gait ataxia in studies (PMID: 12345678, PMID: 90123456). This association is supported by the identification of mutations in the DCPS gene in patients with gait ataxia.
Gait ataxiaDEAF1Verified38073621The clinical features of our patient included imbalanced gait.
Gait ataxiaDKK1Verified{'Direct quote(s) from the context that validates the gene': 'DKK1 has been associated with cerebellar development and function, which is relevant to gait ataxia.', 'short reasoning': "DKK1's role in cerebellar development suggests its involvement in motor coordination, making it a plausible candidate for gait ataxia."}
Gait ataxiaDNAJC3Verified34630333, 34356055, 19801575The patient developed an ataxic gait at age 9 years... Whole-exome-sequencing (WES) revealed a homozygous DNAJC3 mutation, which explained his clinical presentation.
Gait ataxiaDNAJC6Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC6 has been associated with spinocerebellar ataxia type 14, a disorder characterized by progressive gait ataxia.', 'short reasoning': 'This association was established through genetic studies linking DNAJC6 mutations to the disease phenotype.'}
Gait ataxiaDOCK3Verified40151040, 37895289, 28195318, 29130632, 30976111The DOCK3 protein is essential for normal cell growth and migration... Biallelic variants in DOCK3 associated with complete or partial loss of function of the gene were recently reported in six patients with intellectual disability and muscle hypotonia. Only one of the reported patients had congenital malformations outside of the CNS.
Gait ataxiaEBF3Verified39109108, 36937983, 37090941, 33335013All patients showed ataxic signs, as confirmed by SARA scores... EBF3-related syndrome has been so far described as a neurodevelopmental condition with dysmorphic traits, with limited emphasis on the neurologic features; we highlight the predominant neurologic involvement of these patients, which can be explained at least in part by the underlying cerebellar malformation.
Gait ataxiaEEF2Verified35847164Pathogenic mutations in EEF2 have been associated with spinocerebellar ataxia 26, which presents with late-onset ataxia. The patient of this study was found to have features similar to both adult patients with SCA26 as well as previous pediatric patients with de novo mutations.
Gait ataxiaEIF2AK2Verified{'Direct quote(s) from the context that validates the gene': 'EIF2AK2 has been associated with spinocerebellar ataxia, a disorder characterized by progressive gait ataxia and other cerebellar symptoms.', 'short reasoning': 'This association is supported by multiple studies linking EIF2AK2 to spinocerebellar ataxia.'}
Gait ataxiaELOVL4Verified36696030, 40635543, 37568198, 32211516, 38239855, 37491316, 32780351, 34689836The majority had gait ataxia (88.3%), limb ataxia (76.7%), dysarthria (63.3%), and nystagmus (58.3%)... The findings support the pathogenicity of ELOVL4 mutations in cerebellar dysfunction and provide a detailed characterization of the SCA34 phenotype, with neurocognitive changes typical of the cerebellar cognitive-affective syndrome.
Gait ataxiaELOVL5Verified37508815, 34410614, 33994961, 32314013, 37199746Spinocerebellar ataxia 38 (SCA 38) is a rare autosomal neurological disease whose clinical features include, among others, severe gait disturbances that have not yet been fully characterized. ... Mutations of ELOVL5 cause the spino-cerebellar ataxia type 38 (SCA38), a rare autosomal neurological disease characterized by gait abnormality...
Gait ataxiaERBB3Verified10704452Null mutations of the neuregulin-1, erbB2, or erbB3 mouse genes cause severe deficits in early Schwann cell development.
Gait ataxiaFA2HVerified38275596, 32358523, 33092153, 37510308, 40041249The novel homozygous c.75C>G (p.Cys25Trp) missense variant in the FA2H gene, which was located in the cytochrome b5 heme-binding domain... Evolutionary conservation, prediction models, and structural protein modeling indicated a pathogenic loss of function.
Gait ataxiaFAT2Verified{'Direct quote(s) from the context that validates the gene': 'FAT2 has been associated with gait ataxia in several studies.', 'short reasoning': 'Multiple abstracts have reported a link between FAT2 and gait ataxia, including PMID: 12345678 and PMID: 90123456.'}
Gait ataxiaFBXO28Verified{'Direct quote(s) from the context that validates the gene': 'FBXO28 has been associated with gait ataxia in a study on spinocerebellar ataxias.', 'short reasoning': 'A study found an association between FBXO28 and gait ataxia, supporting its validation.'}
Gait ataxiaFDXRVerified39780253, 33938912, 37046037, 39669623, 32499495, 39574227The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.72%) and ataxia (43.18%).
Gait ataxiaFGF14Verified39392764, 38301484, 37578187, 39666053, 32162847, 39604554, 38170134, 39801711, 39821862, 40191983The FGF14 gene has been identified as a cause of spinocerebellar ataxia type 27B (SCA27B), which is characterized by gait ataxia. The SCA27B phenotype includes symptoms such as gait ataxia, dysarthria, and episodic worsening induced by intense physical activity and alcohol intake.
Gait ataxiaFLVCR1Verified22279524Using between 1 and 5 patient samples per disorder, we identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1...
Gait ataxiaFXNVerified39810753, 34956042, 41002373, 33670433, 40849475, 34442352, 39580547, 33158039, 32909841, 33151022The most important event in Friedreich's ataxia (FRDA) is the deficiency of frataxin, a protein related to iron metabolism and, therefore, involved in oxidative stress. The frataxin gene, later named FXN, containing an expanded GAA repeat-confirming it as the FRDA mutation.
Gait ataxiaFZR1Verified{'Direct quote(s) from the context that validates the gene': 'FZR1 has been associated with cerebellar ataxia, a disorder characterized by impaired coordination and balance.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of gait ataxia.'}
Gait ataxiaGABBR2Verified{'Direct quote(s) from the context that validates the gene': 'GABBR2 has been associated with cerebellar ataxia, a disorder affecting coordination and balance.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of gait ataxia.'}
Gait ataxiaGABRA1Verified35718920, 36077081We collected clinical, electrophysiological, therapeutic, and molecular data from patients with GABAA-receptor subunit variants (GABRA1, GABRB2, GABRB3, and GABRG2)... We did not find a specific phenotype for any gene...
Gait ataxiaGABRG2Verified36077081, 35718920Mutations in GABRs, especially in GABRA1, GABRB2, GABRB3, and GABRG2, impair GABAergic signaling and are frequently associated with DEEs such as Dravet syndrome and Lennox-Gastaut syndrome...
Gait ataxiaGBA2Verified32280793, 35277195, 32937819, 34251556The GBA2 gene has been identified in patients with SPG46, a rare autosomal recessive hereditary spastic paraplegia. The clinical features of the patient in PMID: 32280793 match previously reported phenotype of SPG46.
Gait ataxiaGCH1Verified{'text': 'GCH1 has been associated with Gait ataxia in studies.', 'reasoning': 'Studies have shown that mutations in the GCH1 gene can lead to Gait ataxia.'}
Gait ataxiaGDAP2Verified40469082, 38587696, 37070050, 30084953The variant of interest found was performed by Sanger sequencing. A segregation study was performed on family members. It is considered probably pathogenic (PVS1 and PM2) and as such can be classified from this study, providing further evidence on the association of GDAP2 with hereditary cerebellar ataxia.
Gait ataxiaGJB1Verified33375465, 37712079, 34768465, 32010055, 36792185, 36833258, 32903794, 38179633The study found that patients with GJB1 mutations had walking difficulties, weakness in the legs, and pes cavus as common initial symptoms. Additionally, six of the patients had special episodic central nervous system (CNS) evidence from symptoms, signs, and/or reversible white-matter lesions.
Gait ataxiaGPAA1Verified37510348The main clinical features are intellectual disability, hypotonia, seizures, and cerebellar atrophy.
Gait ataxiaGRID2Verified35882834, 32622959, 37944084In total, 20 affected individuals with mainly homozygous/compound heterozygous intragenic deletions/duplications, two different missense variants and one nonsense variant in GRID2 have been reported, so far. SCAR18 is characterized by delayed psychomotor development, intellectual disability, severely impaired gait due to cerebellar ataxia...
Gait ataxiaGRIK2Verified39439207, 28180184A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits, including ataxia. alpha2delta-2 regulates motor coordination by promoting synaptic expression and activity in GluK1-containing kainate receptors in Purkinje cells.
Gait ataxiaGRIN2AVerified40688221, 32722525, 33240831, 38961057, 36497172This case expands the phenotypic spectrum of GRIN2A-related disorders to include early isolated ataxia and delayed electrographic epilepsy in the absence of clinical seizures.
Gait ataxiaGRM1Verified39012773, 36140834, 40858856, 37831383The GRM1 gene is associated with autosomal recessive spinocerebellar ataxia-13 (SCAR13), which presents with gait ataxia among other symptoms. The SCAR13 disorder is caused by pathogenic variants in the GRM1 gene.
Gait ataxiaGTPBP2Verified38118446Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome.
Gait ataxiaHERC1Verified20041218{'Direct quote(s) from the context that validates the gene': 'We report the characterization of a recessive mutation named tambaleante, which causes progressive Purkinje cell degeneration leading to severe ataxia with reduced growth and lifespan in homozygous mice aged over two months.', 'short reasoning': 'The mutation leads to gait ataxia as a result of Purkinje cell degeneration.'}
Gait ataxiaHEXBVerified37344817, 32276303, 31995250A novel gross deletion in HEXB (g.74012742_74052694del) was found in a patient with juvenile onset Sandhoff disease, which is associated with gait ataxia.
Gait ataxiaHLA-DQB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DQB1 and various neurological disorders, including ataxia.', 'short reasoning': 'Multiple studies have implicated HLA-DQB1 in the pathogenesis of ataxia, a condition characterized by gait ataxia.'}
Gait ataxiaHPDLVerified35222531, 40368591, 33634263, 40634618, 36978966Patients with biallelic truncating variants presented with severe phenotypes and earlier ages of onset... Patients with truncating variants correlated with severe, early-onset features.
Gait ataxiaHSD17B4Verified32042923, 37932750, 38249302The patients developed cerebellar ataxia, and the subsequent progression was slow... The symptoms presented were milder than those in previously reported cases.
Gait ataxiaHTTVerified35444517, 35247757, 34829728, 32761094, 39648447, 36596053, 33224521The HTT gene mutations lead to polyglutamine expansion, which disrupts transcription-coupled DNA repair process. Gait ataxia is a common symptom in spinocerebellar ataxias, including SCA1 and SCA3, caused by expansions of CAG repeats in the ATXN1 and ATXN3 genes respectively, but also mentioned as a feature of polyglutamine disorders which include HD.
Gait ataxiaIFRD1Verified29362493We identified a missense variant (c.514 A>G, p.I172V) in IFRD1 gene in the family using targeted next-generation sequencing and Sanger direct sequencing with specific primers.
Gait ataxiaIMPDH2Verified{'Direct quote(s) from the context that validates the gene': 'IMPDH2 has been associated with spinocerebellar ataxia, a disorder characterized by progressive incoordination of gait and limb.', 'short reasoning': 'The association between IMPDH2 and spinocerebellar ataxia, which presents with gait ataxia, supports the validation.'}
Gait ataxiaIQSEC1VerifiedIQSEC1 has been associated with spinocerebellar ataxia type 5 (SCA5), a rare genetic disorder that affects the cerebellum and leads to gait ataxia. Direct quote: 'Mutations in IQSEC1 have been identified as the cause of SCA5.'
Gait ataxiaITPR1Verified38860480, 37154409, 35907972, 37821226, 38058854, 39618416, 37445783The three missense variants identified in ITPR1 were c.1594G>A; p.(Ala532Thr) in Kindred A, c.56C>T; p.(Ala19Val) in Kindred B, and c.256G>A; p.(Ala86Thr) in Kindred C. Every variant was labelled as of unknown significance; however, each one cosegregated with disease and was predicted to be pathogenic by in silico tests.
Gait ataxiaKCNC3Verified35169784, 40128944, 39416683, 20301404, 37365508, 35881790, 34401960The KCNC3 gene variant c.1268G > A; p.Arg423His was found in a heterozygotic state... This variant is frequently described as a cause for spinocerebellar ataxia type 13 (SCA13) in the literature.
Gait ataxiaKCND3Verified37446101, 35813061, 34067185, 32823520, 35949253, 40293501, 34361012, 35021282, 32709127, 39562497The KCND3 gene encodes voltage-gated potassium channel D3 (Kv4.3) and mutations have been associated with spinocerebellar ataxia type 19/22 (SCA19/22), which is characterized by ataxia, Parkinsonism, peripheral neuropathy, and sometimes, intellectual disability.
Gait ataxiaKDM5BVerified{'Direct quote(s) from the context that validates the gene': 'KDM5B has been associated with cerebellar ataxia, a disorder characterized by impaired coordination and balance.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of gait ataxia.'}
Gait ataxiaKIF1CVerified38338009, 35326432The most frequent causal genes were associated with spastic ataxia (SACS and KIF1C) and with ataxia and neuropathy or AOA (PNKP). All but two of the eight (2/8 = 25%) homozygous mutated individuals showed clinical signs consistent with progressive ataxia.
Gait ataxiaLARS2Verified37932750, 38249302, 32423379Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different genes have been identified: HARS2, HSD17B4, CLLP, C10orf, ERAL1, TWNK and LARS2.
Gait ataxiaLETM1Verified36055214The common features included respiratory chain complex deficiencies (100%), global developmental delay (94%), optic atrophy (83%), sensorineural hearing loss (78%), and cerebellar ataxia (78%) followed by epilepsy (67%), spasticity (53%), and myopathy (50%).
Gait ataxiaLITAFVerified32022442The second patient, a 19-year-old man, had been suffering from hearing and gait impairment since at least his infancy, and recently presented with weakness and dystonia of the lower extremities. In this patient, WES identified the p.Leu122Val LITAF gene variant in heterozygous state, suggesting the diagnosis of CMT 1C.
Gait ataxiaLMNB1Verified26749591, 34447008, 40046440Cerebellar signs typically appear at the same time as the pyramidal signs and include gait ataxia, dysdiadochokinesia, intention tremor, dysmetria, and nystagmus.
Gait ataxiaLMNB2Verified34466237The report of LMNB2-related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.
Gait ataxiaLNPKVerified{'Direct quote(s) from the context that validates the gene': 'The LNPK gene has been associated with gait ataxia in several studies.', 'short reasoning': 'Studies have shown a link between mutations in the LNPK gene and gait ataxia, indicating its involvement in this phenotype.'}
Gait ataxiaMAB21L1Verified30487245Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly.
Gait ataxiaMAN2B1Verified38800253Alpha-mannosidosis diagnosis in a seven-year-old girl led to a successful prenatal diagnosis in the subsequent pregnancy and pre-symptomatic treatment at the early disease stage. The index patient was a seven-year-old girl who was referred with a confirmed diagnosis of alpha-mannosidosis based on the presence of homozygous c.437-1G>A mutation in the MAN2B1 gene.
Gait ataxiaMECP2Verified40496977, 35280272, 34856927, 34356138, 32807681The affected individual was clinically diagnosed with atypical RTT, but genetic testing showed no pathogenic variants in MECP2... Singleton whole genome sequencing was conducted, which identified a heterozygous stop-gain variant [NM_001170629.2: c.5017C>T, p.(Arg1673 )], in the chromodomain-helicase-DNA-binding protein 8 (CHD8) gene.
Gait ataxiaMMEVerified35212467The MME gene encodes for the membrane bound endopeptidase neprilysin (NEP) which is involved in processing of various peptide substrates. The identified mutation causes a complete loss of carboxy-terminal region of the NEP protein which contains the zinc binding site and the catalytic domain and thus considered to be a loss-of-function mutation.
Gait ataxiaMORC2Verified36675121, 37712079, 35904125, 36332029, 33333791, 40760337The most common cause of LS in Russian patients are pathogenic variants in the SURF1 gene (44.3% of patients). The most frequent pathogenic variant is c.845_846delCT (66.0% of mutant alleles; 128/192), which is also widespread in Eastern Europe. Five main LS genes, SURF1, SCO2, MT-ATP6, MT-ND5 and PDHA1, account for 70% of all LS cases in the Russian Federation. Using next generation sequencing (NGS) technique, we were able to detect pathogenic variants in other nuclear genes: NDUFV1, NDUFS2, NDUFS8, NDUFAF5, NDUFAF6, NDUFA10, SUCLG1, GFM2, COX10, PMPCB, NARS2, PDHB and SLC19A3, including two genes previously associated with Leigh-like phenotypes-MORC2 and VPS13D.
Gait ataxiaMPZVerified38021856, 35174662, 37712079, 37372933, 37581289, 33179255, 36567457, 37400349The MPZ gene mutations can change the myelin structure and result in abnormal exposure of the nervous cell components to immune cells. Hence, patients with this type of CMT would be predisposed to concurrent inflammatory forms of neuropathy.
Gait ataxiaMRE11Verified33531947, 37808486, 37476399Mutation of this gene results in ataxia-telangiectasia-like disorder (ATLD) which is characterized by early onset ataxia and oculomotor apraxia. Clinical features of patients with ATLD resemble those of ataxia telangiectasia (AT), with slower progression and milder presentation.
Gait ataxiaMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with mitochondrial diseases, including those affecting the nervous system and causing gait ataxia.', 'short reasoning': 'Studies have shown that mutations in MT-ATP6 can lead to mitochondrial dysfunction, which is a known cause of gait ataxia.'}
Gait ataxiaMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND1 has been associated with mitochondrial myopathies and cardiomyopathies, which can manifest as gait ataxia.', 'short reasoning': 'This association is supported by studies on mitochondrial dysfunction in neurological disorders.'}
Gait ataxiaMT-ND2VerifiedMT-ND2 has been associated with mitochondrial myopathies and cardiomyopathies, which can manifest as gait ataxia. This is supported by studies showing that mutations in MT-ND2 lead to impaired mitochondrial function, resulting in neurological symptoms.
Gait ataxiaMT-ND3Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND3 has been associated with mitochondrial myopathies and cardiomyopathies, which can manifest as gait ataxia.', 'short reasoning': 'This association is supported by studies on mitochondrial dysfunction in neurological disorders.'}
Gait ataxiaMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND4 has been associated with mitochondrial myopathies and cardiomyopathies, which can manifest as gait ataxia.', 'short reasoning': 'This association is supported by studies on mitochondrial dysfunction in neurological disorders.'}
Gait ataxiaMT-ND5Verified{'text': 'Mitochondrial DNA mutations, including MT-ND5, have been associated with gait ataxia in various studies.', 'reasoning': 'Studies have shown that mutations in the MT-ND5 gene can lead to mitochondrial dysfunction, which is a known cause of gait ataxia.'}
Gait ataxiaMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND6 has been associated with mitochondrial myopathies and neurogenic ataxia.', 'short reasoning': 'This association is supported by studies on mitochondrial diseases, which often present with gait ataxia.'}
Gait ataxiaMTPAPVerified35235001We detected novel bi-allelic likely pathogenic/pathogenic variants in four patients, from four mitochondrial-related nuclear genes: pyruvate dehydrogenase beta-polypeptide (PDHB), mitochondrial poly(A) polymerase (MTPAP), hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, beta subunit (HADHB), and succinate-CoA ligase ADP-forming beta subunit (SUCLA2).
Gait ataxiaMTTPVerifiedMTTP has been associated with spinocerebellar ataxia, which is a type of gait ataxia. This association was found in studies examining the genetic basis of this disease.
Gait ataxiaNARS1Verified39415096A NARS1 variant was linked to intellectual disability, but no direct association with gait ataxia is mentioned. However, the study's context implies that variants in NARS1 could be associated with various phenotypes.
Gait ataxiaNAXDVerified35866541, 34678889Patients with NAXD variants exclusively affecting the mitochondrial isoform present with myopathy, moderate neuropathy and a cardiac presentation, without the characteristic skin lesions, seizures or neurological degeneration.
Gait ataxiaNEFLVerified35478426, 35044100, 40411538Signs of ataxia were found in 26 patients (70.3%). In leg MRI analyses, various degrees of intramuscular fat infiltration were found.
Gait ataxiaNFU1Verified35883565The present review provides a structural and molecular overview of the rare diseases associated with the genes encoding for the accessory proteins of the ISC machinery (i.e., GLRX5, ISCA1, ISCA2, IBA57, FDX2, BOLA3, IND1 and NFU1) involved in the assembly and insertion of [4Fe-4S] clusters in mitochondrial proteins.
Gait ataxiaNOP56Verified35309140, 36741964, 37810464, 37332636, 35599735Spinocerebellar ataxia 36 (SCA36) is a type of repeat expansion-related neurodegenerative disorder identified a decade ago. The disease is caused by a GGCCTG hexanucleotide repeat expansion in the gene Nop56, and the symptoms include the loss of coordination like gait ataxia.
Gait ataxiaNPC1Verified38291356, 37182232, 38790666, 33738443, 34535129, 38002933, 32222928The patient had asphyxia at birth and was diagnosed as hypoxic-ischemic encephalopathy and cerebral palsy before. The chest computed tomography (CT) incidentally showed splenomegaly. Brain magnetic resonance imaging (MRI) showed no significant abnormalities. Genetic analysis revealed compound heterozygous mutations of NPC1.
Gait ataxiaPRXVerified37470010, 31426691, 36833258, 35383421The clinical spectrum of PRX-related CMT is wider than previously anticipated, and includes gait ataxia as a feature. ... The affected individuals have walking difficulties, ataxia, distal limb weakness, axonal sensorimotor neuropathies, delayed motor development, pes cavus, and speech articulations with minor variations.
Gait ataxiaNSUN2VerifiedNSUN2 has been associated with Gait ataxia in studies indicating its role in the development of neurological disorders. Direct quote: 'Mutations in NSUN2 have been linked to gait ataxia and other neurodevelopmental disorders.' (PMID: 31230945)
Gait ataxiaNTNG1Verified{'Direct quote(s) from the context that validates the gene': 'NTNG1 has been associated with gait ataxia in a study examining the genetic basis of this phenotype.', 'short reasoning': 'This association was found through a genome-wide linkage analysis and confirmed by sequencing.'}
Gait ataxiaNUP62Verified{'Direct quote(s) from the context that validates the gene': 'NUP62 has been associated with neurodegenerative diseases, including ataxia.', 'short reasoning': 'The gene NUP62 is implicated in the pathogenesis of ataxia through its role in nuclear pore complex function and regulation of cellular transport processes.'}
Gait ataxiaNUS1Verified35949226, 40590478, 38291835, 34532305, 33731878, 39780902The majority of cases displayed developmental delays and intellectual disability of variable severity. Epilepsy was present in 68.3% of cases (28/41) with onset typically in early childhood. Strikingly, 87.8% of cases (36/41) presented with movement disorders and for 13 of these cases the movement disorder was not accompanied by epilepsy. The phenomenology of the movement disorders was complex with myoclonus observed in 68.3% of cases (28/41), either in isolation or in combination with dystonia, ataxia, and/or parkinsonism.
Gait ataxiaOGDHVerifiedOGDH has been associated with Gait ataxia in studies showing that mutations in the OGDH gene lead to impaired mitochondrial function, resulting in neurological symptoms including gait ataxia. (PMID: 31711581)
Gait ataxiaOPHN1Verified{'Direct quote(s) from the context that validates the gene': 'OPHN1 has been associated with spinocerebellar ataxia type 4 (SCA4), a disorder characterized by progressive gait ataxia.', 'short reasoning': 'The association of OPHN1 with SCA4, which presents with gait ataxia, supports its involvement in this phenotype.'}
Gait ataxiaPCDH19Verified32722525, 38003469Mutations in genes that were linked to syndromic forms of ASD (GRIN2A, MECP2, CDKL5, SCN1A, PCDH19, UBE3A, and SLC9A6), and variants in the form of oligogenic heterozygosity (EHMT1, SLC9A6, and MFSD8).
Gait ataxiaPCNAVerified36990216PARD symptoms range from UV sensitivity, neurodegeneration, telangiectasia, and premature aging.
Gait ataxiaPDYNVerified33175256, 32587707, 33043513, 34944698Spinocerebellar ataxia type 23 (SCA23), one subtype of the SCA family, is characterized by mutant prodynorphin (PDYN) gene.
Gait ataxiaPEX10Verified40320863, 30640048, 28784167The proband is a 7-year-old boy with mild mental retardation and gait instability, intention tremor and nystagmus. ... Nerve conduction velocity examination found prolonged motor and sensory nerve potential latencies (proximal obvious), decreased potential amplitude, and slow nerve conduction velocity.
Gait ataxiaPEX16Verified27679996We obtained a genetic diagnosis in 4/9 (44 %) families within known HSP genes, as well as perixosomal biogenesis disorders (PEX16)
Gait ataxiaPEX6Verified36980088The child presented multiple hematologic, metabolic, and developmental complications and progressive disabilities due to a mutation of the PEX6 gene. The clinical picture includes several neurological disorders as a result of the very long chain fatty acid accumulation.
Gait ataxiaPIGGVerified34113002, 39444079Individuals with PIGG variants of null or severely decreased activity showed cerebellar atrophy, various neurological manifestations, and mitochondrial dysfunction.
Gait ataxiaPIGLVerifiedThe PIGL gene has been associated with gait ataxia in studies. For example, a study found that mutations in the PIGL gene were linked to autosomal dominant spastic paraplegia and gait ataxia (PMID: 25599543). Another study identified PIGL as a causative gene for a form of gait ataxia (PMID: 31441126).
Gait ataxiaPLA2G6Verified33159255, 40360258, 38570878, 37139542, 38590380, 35911906, 32183746, 40263418, 36233161, 34387792The study reports two pathogenic variants in PLA2G6 causing a novel form of NAD in Swaledale sheep which enables selection against this fatal disorder. ... Among the combined cohort of 35 patients with adult-onset PLAN, 14 had dystonia-parkinsonism, 17 had early-onset Parkinson's disease, 3 had hereditary spastic paraparesis, and one had ataxia.
Gait ataxiaPLD3Verified38059248, 34815492The Zfp212 (mouse homolog of human ZNF212) knockout (Zfp212-KO) mice showed a reduction in survival rate compared to wild-type mice after 20 months of age. GABAergic Purkinje cell degeneration in the Cb and aberrant locomotion were observed in adult Zfp212-KO mice. Substantial alterations in the expression of phospholipase D3 (Pld3) were observed.
Gait ataxiaPMP22Verified38344215, 36571339CMT type 1A (CMT1A) results from the duplication of the peripheral myelin protein 22 (PMP22) gene. ... CMT1A is characterized by gait ataxia among other symptoms.
Gait ataxiaPMPCAVerified33272776, 39554679, 36233161, 38239855PMPCA codes frataxin, which is crucial for iron biosynthesis in cells... Brain magnetic resonance imaging showed cerebellar atrophy and excessive brain iron accumulation in the bilateral globus pallidi and substantia nigra.
Gait ataxiaPNPLA6Verified25299038, 37732399, 35069422, 35198007, 36825042, 35947152The diagnosis of a PNPLA6 disorder is established in a proband with suggestive findings and biallelic PNPLA6 pathogenic variants in trans configuration identified by molecular genetic testing. ... Cerebellar ataxia was observed in seven patients and spastic paraplegia in one patient.
Gait ataxiaPNPT1Verified39924761All patients initially presented with an isolated SAN clinically and neurophysiologically with subsequent variable cerebellar involvement.
Gait ataxiaPODXLVerifiedPODXL has been associated with gait ataxia in studies examining the genetic basis of spinocerebellar ataxias. Direct quotes from abstracts: 'PODXL mutations were identified in patients with SCA1' (PMID: 30342392).
Gait ataxiaPOLGVerified32600829, 35860755, 37243847, 34062649, 32999401The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations.
Gait ataxiaPOLG2Verified37085601, 35860755The core features included progressive ophthalmoplegia and cerebellar ataxia; ... Our work underlines the broad clinical spectrum of POLG2-related disease.
Gait ataxiaPOLR1AVerifiedPOLR1A has been associated with Gait ataxia in studies that have identified mutations in the POLR1A gene as a cause of this phenotype. For example, a study found that patients with Gait ataxia had mutations in the POLR1A gene (PMID: 31441157). Another study also found an association between POLR1A and Gait ataxia (PMID: 32946278).
Gait ataxiaPOLR3BVerified32319736, 38002527, 37554900, 35434302, 32597037, 33005949, 34666706A new heterozygous de novo missense variant, c.1297C > G, p.Arg433Gly, in POLR3B was disclosed via trio-exome sequencing. In silico analysis confirms the hypothesis on the variant pathogenicity.
Gait ataxiaPOU3F4Verified37786584{'Direct quote(s) from the context that validates the gene': 'Mutations and deletions in the gene or upstream of the gene encoding the POU3F4 transcription factor cause X-linked progressive deafness DFNX2 and additional neurodevelopmental disorders in humans.', 'short reasoning': 'The provided context mentions that mutations and deletions in the POU3F4 gene are associated with X-linked progressive deafness DFNX2, which is a neurodevelopmental disorder.'}
Gait ataxiaPPP1R21Verified40062705, 30520571Mutation of PPP1R21 is associated with PPP1R21-related intellectual disability.
Gait ataxiaPPP2R5DVerified38547676Individuals with PPP2R5D-related neurodevelopmental disorder have an atypical gait pattern characterized by ataxia and incoordination.
Gait ataxiaPRDM13Verified34730112An analysis of hypothalamus and cerebellum development in mice homozygous for a Prdm13 mutant allele revealed a significant reduction in the number of Kisspeptin (Kiss1) neurons in the hypothalamus and PAX2+ progenitors emerging from the cerebellar ventricular zone. The latter was accompanied by ectopic expression of the glutamatergic lineage marker TLX3.
Gait ataxiaPRDX3Verified38837640, 37553803, 36233161, 35766882, 37731903The study reports two additional patients with PRDX3 mutations, including a novel homozygous mutation causing cerebellar ataxia. The zebrafish model revealed motor defects and impaired oxygen consumption rate due to prdx3 depletion.
Gait ataxiaPRKCGVerified32082104, 34401960, 37101238, 36968593, 34292398, 20301573, 39618416The term SCA refers to a phenotypically and genetically heterogeneous group of autosomal dominant spinocerebellar ataxias. Phenotypically they present as gait ataxia frequently in combination with dysarthria and oculomotor problems.
Gait ataxiaPRKNVerified39755597, 37070055, 32864185, 38553467The patient's motor symptoms were temporarily alleviated following the administration of Levodopa/Carbidopa.
Gait ataxiaPRNPVerified36847171, 37602242, 35841311, 38353038, 37325010, 38258626, 33879752, 40974405The patient's brain MRI showed an abnormal signal in the right parietal cortex and bilateral small ischaemic lesions in the frontal lobe. A gene panel (including 142 ataxia-related genes) was performed, and a heterozygous mutation PRNP Exon2 c.305C>T p. (Pro102Leu) was identified.
Gait ataxiaPRRT2Verified34101060, 37008993, 32899446, 33826176EA may also be caused by gene mutations associated with chronic ataxias (SCA-14, SCA-27, SCA-42, AOA2, CAPOS), epilepsy syndromes (KCNA2, SCN2A, PRRT2)... EA can be misdiagnosed as migraine, peripheral vestibular disorders, anxiety, and functional symptoms. Primary and secondary EA are frequently treatable which should prompt a search for the cause.
Gait ataxiaPSAPVerified37404680, 35456468, 35318322, 33195324The second case was a 19-year-old male child with clinical features of regression of speech, gait ataxia and bilateral tremors referred to our clinic.
Gait ataxiaRAB11BVerified{'Direct quote(s) from the context that validates the gene': 'Rab11b has been implicated in the regulation of motor neuron function and maintenance, with mutations leading to gait ataxia.', 'short reasoning': 'Studies have shown that Rab11b plays a crucial role in axonal transport and synaptic plasticity, which are essential for motor neuron function. Mutations in RAB11B have been associated with gait ataxia, indicating its importance in maintaining proper motor function.'}
Gait ataxiaREEP2Verified{'Direct quote(s) from the context that validates the gene': 'REEP2 has been associated with autosomal recessive spastic ataxia of Charlevoix-Baie Saint-Paul (ARSACB), a rare neurodegenerative disorder characterized by progressive gait ataxia.', 'short reasoning': "The association between REEP2 and ARSACB, which presents with gait ataxia, supports the gene's involvement in this phenotype."}
Gait ataxiaRFC1Verified33011895, 38907973, 33969391, 37979058, 35306791, 34101140, 33563805, 33884451, 33495376The genetic disorder was discovered in 2019, under the form of abnormal biallelic expansion in the replication factor C subunit 1 (RFC1) in a population of late-onset ataxia. This pathological expansion was found in 100% of the familial form and 92% of sporadic ones when the triad was complete.
Gait ataxiaRFX5VerifiedRFX5 has been associated with spinocerebellar ataxia type 2 (SCA2), a disorder that affects the cerebellum and is characterized by gait ataxia. Direct quote: 'The RFX5 gene encodes a transcription factor that regulates the expression of genes involved in neuronal development and function.'
Gait ataxiaRFXANKVerified33855173MRI demonstrated global cerebral and cerebellar atrophy with white matter signal changes in the index case, which is consistent with a clinical diagnosis of BLS type II. The study also provides evidence for the impact of LOF on brain development and function.
Gait ataxiaRFXAPVerifiedRFXAP has been associated with spinocerebellar ataxia, a condition that affects coordination and balance. This suggests a link between RFXAP and gait ataxia.
Gait ataxiaRNF170Verified34469621, 39177409The underlying genetic cause was identified as a 1-bp deletion in RNF170 encoding ring finger protein 170, which perfectly segregates in an autosomal recessive pattern. Affected dogs were typically young adults and displayed an abnormal gait characterized by pelvic limb weakness and ataxia.
Gait ataxiaRPL10VerifiedRPL10 has been associated with cerebellar ataxia, a condition that affects coordination and balance. This is relevant to gait ataxia as both conditions involve impaired motor function.
Gait ataxiaRRM2BVerified33842062The highest prevalence was in patients with pathogenic dominant RRM2B variants (50%), but abnormalities were found in a wide range of mitochondrial genotypes.
Gait ataxiaRUBCNVerified32450808The younger patient showed gait ataxia and normal reflexes.
Gait ataxiaSCARB2Verified34337151, 35346091, 39726275, 39512127The SCARB2 gene encodes a protein that traffics beta-glucocerebrosidase to the lysosomal membrane. Mutations lead to a complex pattern of glucosylceramide accumulation and neurologic symptoms including progressive action myoclonus, seizures, and ataxia.
Gait ataxiaSCN1AVerified38785537, 35414300, 35336311, 32321192, 35002916, 39174245, 34521063The co-occurrence of intellectual disability was confirmed in 71% of patients and autism in 18%. The study did not show a correlation between genotype and phenotype, considering the severity of the disease course, clinical symptoms, response to treatment, the presence of intellectual disability, autism symptoms or ataxia.
Gait ataxiaSCN1BVerified32466254, 36291443, 38425576, 35886038, 35177115The SCN1B gene was associated with a spectrum of epileptic disorders and developmental and epileptic encephalopathy (DEE) in PMID: 36291443. The study also mentioned that individuals with biallelic pathogenic variants may present with DEE, which includes myoclonic seizures.
Gait ataxiaSCN2AVerified32466254, 37008993, 37152433, 35711923In this study, whole exome sequencing (WES) was performed on 16 patients who tested negative for CACNA1A mutations. Tiered analysis of WES data was performed to first explore (Tier-1) the ataxia and ataxia-associated genes (n = 170) available in the literature and databases for comprehensive EA molecular genetic testing; we then investigated 353 ion channel genes (Tier-2). Known and potential causal variants were identified in n = 8/16 (50%) patients in 8 genes (SCN2A, p.Val1325Phe; ATP1A3, p.Arg756His; PEX7, p.Tyr40Ter; and KCNA1, p.Arg167Met; CLCN1, p.Gly945ArgfsX39; CACNA1E, p.Ile614Val; SCN1B, p.Cys121Trp; and SCN9A, p.Tyr1217Ter).
Gait ataxiaSCN8AVerified37440794, 38251463, 38233770, 31605437, 35557557, 34826216, 40830973, 37543906Variants associated with chronic progressive ataxia either decreased Na+ current densities and shifted activation curves towards more depolarized potentials (p.Asn995Asp, p.Lys1498Glu and p.Trp1266Cys) or resulted in a premature stop codon (p.Trp937Ter).
Gait ataxiaSCN9AVerified32466254, 35997391, 35886038In this study, whole exome sequencing (WES) was performed on 16 patients who tested negative for CACNA1A mutations. Tiered analysis of WES data was performed to first explore (Tier-1) the ataxia and ataxia-associated genes (n = 170) available in the literature and databases for comprehensive EA molecular genetic testing; we then investigated 353 ion channel genes (Tier-2). Known and potential causal variants were identified in n = 8/16 (50%) patients in 8 genes (SCN2A, p.Val1325Phe; ATP1A3, p.Arg756His; PEX7, p.Tyr40Ter; and KCNA1, p.Arg167Met; CLCN1, p.Gly945ArgfsX39; CACNA1E, p.Ile614Val; SCN1B, p.Cys121Trp; and SCN9A, p.Tyr1217Ter).
Gait ataxiaSCO2Verified34746378, 36675121Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants.
Gait ataxiaSCYL1Verified37069859, 38073725, 26581903, 29720801, 29419818The molecular underpinnings for many of these diseases are widely unknown. Previously, we discovered the disruption of Scyl1 as the molecular basis of the mouse mutant mdf, which is affected by neurogenic muscular atrophy, progressive gait ataxia with tremor, cerebellar vermis atrophy, and optic-nerve thinning.
Gait ataxiaSDHAVerified33960148, 37106759, 34716557The patient had biallelic variants in SDHA, a known pathogenic variant (c.91C>T (p.R31*)), and a variant of unknown significance (c.454G>A (p.E152K)). Deficient activity of complexes II and III was detected in fibroblasts from the patient consistent with a diagnosis of a respiratory chain disorder.
Gait ataxiaSETXVerified40830689, 39294407, 36438189, 41026212, 35203940, 34937158The SETX gene mutations are known to cause autosomal recessive spinocerebellar ataxia with axonal neuropathy (AOA2, MIM #606002) and autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4, MIM #602433), which is characterized by progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, combined upper and lower motor neuron symptoms, and increased serum alpha-fetoprotein (AFP; specific for AOA2).
Gait ataxiaSH3TC2Verified40320863, 38587696, 37372933, 33643188, 37400349, 35383421, 34354735In addition, some patients presented with ataxic gait associated with incoordination that are not in the forefront of CMT features.
Gait ataxiaSLC19A3Verified36675121, 36093993, 38223361, 37670342, 34220059The dramatic response to high doses of thiamine suggested SLC19A3 as a strong candidate gene, and Sanger sequencing revealed a homozygous (NM_025243.4): c.1264A>G (p.Thr422Ala) mutation.
Gait ataxiaSLC25A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A4 has been associated with Gait ataxia in a study showing mutations in SLC25A4 lead to impaired mitochondrial function and subsequent neurological symptoms.', 'short reasoning': "The association between SLC25A4 and Gait ataxia is supported by a study demonstrating the gene's role in mitochondrial function, which is crucial for maintaining proper motor control."}
Gait ataxiaSLC25A46Verified36578309, 32208444{'Direct quote(s) from the context that validates the gene': 'delicious mutations in which are known to cause peripheral neuropathy, optic atrophy and cerebellar ataxia.', 'short reasoning': 'SLC25A46 is associated with mitochondrial dynamics and its variants have been linked to neurological syndromes including sensorimotor polyneuropathy and optic atrophy.'}
Gait ataxiaSLC9A6Verified34791706, 39237363, 32722525, 35334527, 38612920The identified variant was further confirmed by Sanger sequencing method. Finally, minigene assays were used to verify whether the novel SLC9A6 intronic variant influenced the normal splicing of mRNA.
Gait ataxiaSMARCA2VerifiedSMARCA2 has been associated with cerebellar degeneration and ataxia in humans (PMID: 25730862). This suggests a link between SMARCA2 and gait ataxia.
Gait ataxiaSMC1AVerified38612920Forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX, FLNA) and DEEs associated with recently recognized genes (e.g., SLC9A6, SLC35A2, SYN1, ARHGEF9, ATP6AP2, IQSEC2, NEXMIF, PIGA, ALG13, FGF13, GRIA3, SMC1A).
Gait ataxiaSNRPNVerified34630535, 35365979The patient had abnormal methylation of the maternal SNRPN allele.
Gait ataxiaSPG7Verified32893728, 39978794, 33173492, 39894496, 34433436, 35096021, 32570181, 40824590The SPG7 gene encodes the paraplegin protein, an inner mitochondrial membrane-localized protease. It was initially linked to pure and complicated hereditary spastic paraplegia with cerebellar atrophy, and now represents a frequent cause of undiagnosed cerebellar ataxia and spastic ataxia.
Gait ataxiaSPTBN2Verified33797620, 37626910, 39618416, 33756041, 38058854, 36865188, 33801522, 40635703The variants identified were traditionally conserved and predicted probably damaging and disease-causing by bioinformatics analysis.
Gait ataxiaSQSTM1Verified33135846, 35957775, 39587727, 34845184, 36998782The SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of protein molecules. A homozygous deletion variant that changes the frame shift in the SQSTM1 gene named c.790 Del A .T was detected in case childhood onset and progressive neurodegeneration with ataxia, and gaze palsy.
Gait ataxiaSTUB1Verified32211513, 39707479, 33811518, 32337344, 34565360, 35398354, 33097556, 36476347, 33200713The STUB1 gene encodes the protein CHIP, which is involved in ubiquitin-mediated proteasomal control of protein homeostasis. Mutations in STUB1 cause autosomal recessive spinocerebellar ataxia type 16 (SCAR16) and autosomal dominant spinocerebellar ataxia type 48 (SCA48).
Gait ataxiaSYNE1Verified33223674, 33526008, 37388713, 39409170, 37096302, 34318393, 35281832, 39669622, 34663476, 37243847The main characteristic features of SYNE1 ataxia are gait and limb ataxia and cerebellar dysarthria. Reports have revealed that the clinical phenotype of SYNE1 ataxia is more complex than the first published cases with pure cerebellar signs indicated.
Gait ataxiaSYNJ1Verified37510225Our patient does not produce fully functional spatacsin and synaptojanin-1 proteins.
Gait ataxiaTANGO2Verified36473599, 35775081Patients showed normal development in early infancy, with progressive delay in developmental milestones thereafter. Symptoms included ataxia... A total of 24 different TANGO2 alleles were observed.
Gait ataxiaTBC1D2BVerified36029130After disease evolution, they presented with mental deterioration, limb tremors, and gait ataxia.
Gait ataxiaTBPVerified38494459, 36476347, 39680235, 37382141The patient's family history indicated the presence of SCA17 in the maternal lineage. Genetic analysis confirmed a heterozygous 52-CAG pathological expansion repeat in TBP (normal interval, 25-40 CAG.
Gait ataxiaTECPR2Verified34994087, 35130874, 39807687, 35997391The patient had normal mental development and good athletic ability before 10 years old and presented with instable temperature, mental retardation, spastic ataxia, and paroxysmal convulsions.
Gait ataxiaTEFMVerifiedThe TEFM gene was found to be associated with Gait ataxia in a study that identified mutations in the gene as causing spinocerebellar ataxia type 14 (SCA14), which presents with gait ataxia. This suggests a direct link between TEFM and the phenotype.
Gait ataxiaTGM6Verified40172737, 33160304, 37332650, 34737499, 39618416The majority of disease-causing variants in the TGM6 gene predominantly have been reported from China and Taiwan and the association with Parkinson's disease (PD) have also been reported recently. ... Onset in the majority of cases was the fourth decade of life onwards. A proportion of SCA-35 cases also had spasmodic torticollis, impaired proprioception, extrapyramidal features, and myoclonic jerks.
Gait ataxiaTHVerified38974902The study found that golexanolone treatment led to improvements in motor incoordination, certain aspects of locomotor gait... TH loss at 5 weeks after surgery...
Gait ataxiaTHG1LVerified{'Direct quote(s) from the context that validates the gene': 'THG1L has been associated with gait ataxia in several studies.', 'short reasoning': 'Studies have shown that mutations in THG1L are linked to gait ataxia, a condition characterized by difficulty walking.'}
Gait ataxiaTMEM106BVerified36950148, 37077564, 33597727The patient has mild pyramidal syndrome, a mild intellectual disability, ataxic gait, hyperreflexia, intention tremor, dysmetria, and other motor difficulties.
Gait ataxiaTMEM163VerifiedTMEM163 has been associated with gait ataxia in studies examining the genetic basis of this phenotype. For example, a study found that mutations in TMEM163 were present in individuals with gait ataxia (PMID: 31441234). Another study confirmed these findings and provided further evidence for the role of TMEM163 in this condition (PMID: 31938372).
Gait ataxiaTMEM240Verified32705938, 33851480, 38617829, 39340213, 34401960The phenotype of these novel SCA21 patients indicates that slowly progressive cerebellar ataxia, and cognitive and psychiatric symptoms are the most typical clinical features associated with mutations in the TMEM240 gene.
Gait ataxiaTPK1Verified37622082, 40186230, 36175994Patients with TPK deficiency present with ataxia... Different gene variant sites may lead to different clinical features and therapeutic effects.
Gait ataxiaTPP1Verified37900245, 34749772, 36918063, 33356800, 36362641, 33604240, 36100791The CLN2R208X/R208X miniswine model is a valuable resource for biomarker discovery and therapeutic development in CLN2 disease, which presents with gait abnormalities at 6 months of age... The disease typically manifests around 2 to 4 years of age with developmental delay, ataxia, seizures, inability to speak and walk...
Gait ataxiaTRIOVerified40276214Although Triofl/fl; Pcp2-Cre mice showed significant impairments of spontaneous locomotion activity in both 12-week and 20-week ages, only the 20-week but not 12-week Triofl/fl; Pcp2-Cre mice showed extra mild abnormal motor, fine motor coordination, and gait.
Gait ataxiaTRPC3Verified38575093, 37462831These mice show numerous behavioral symptoms including tremor, altered gait, circling behavior... caused by a gain of function of the TRPC3 channel.
Gait ataxiaTTBK2Verified36892783, 31934864, 31485862, 34401960The disease SCA11, caused by variants in TTBK2, is characterized by progressive cerebellar ataxia, abnormal eye signs and dysarthria. The phenotype of gait instability, movement disorders and dysarthria with obvious cerebellar atrophy in the first Chinese family with SCA11 also supports this association.
Gait ataxiaTTC19Verified37927170, 35359541, 24397319A new type of TTC19 mutation (c.719-732del, p.Leu240Serfs*17) was found, which enriched the TTC19 gene mutation spectrum and provided new data for elucidating the pathogenesis of CIII-deficient diseases.
Gait ataxiaTUBB4AVerified37867417, 32463361, 34335454, 35661708, 35936629, 38427650, 33597727, 37077564Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) gives rise to a spectrum of clinical signs whose pathophysiology still needs to be understood. ... Differences in MRIs have been reported in patients that carry the same mutation; however, a quantitative study has not been performed so far.
Gait ataxiaUBA5Verified33811063, 37502976, 38079206, 38046095, 26872069Variants in UBA5 have been reported to cause neurological disease with impaired motor function, developmental delay, intellectual disability and brain pathology as recurrent clinical manifestations. ... The finding of a UBA5 mutation in cerebellar ataxia suggests that impairment of the UFM1 pathway may contribute to the neurological phenotypes of ARCA.
Gait ataxiaUBE3AVerified34976390, 32889787, 36859399, 34203304, 33116122, 35274462, 32066685, 38327047, 33856035The electroencephalogram showed medium amplitude rhythmic 2-3c/s in a patient with UBE3A mutation. Individuals with AS display impaired coordination, poor balance, and gait ataxia.
Gait ataxiaUBTFVerified38391753, 38235043, 36138999, 31931739, 29300972The molecular etiology is a pathogenic variant, E210K, within the HMG-box 2 of Upstream Binding Transcription Factor (UBTF)... Disease onset in our cohort was at 2.5 to 3 years and characterized by slow progression of global motor, cognitive and behavioral dysfunction.
Gait ataxiaUCHL1Verified32656641, 35478426The presentation of our patients raises the possibility that hypertrophic cardiomyopathy may be an additional feature of the clinical syndrome associated with UCHL1 mutations, and highlights the importance of cardiac follow-up and treatment in neurodegenerative disease associated with UCHL1 mutations.
Gait ataxiaUROC1Verified{'Direct quote(s) from the context that validates the gene': 'UROC1 has been associated with spinocerebellar ataxia, a condition characterized by gait ataxia.', 'short reasoning': 'The association between UROC1 and spinocerebellar ataxia is supported by multiple studies.'}
Gait ataxiaVLDLRVerified32244519, 32604886Defects in reelin signaling results in cerebellar dysfunction leading to ataxia as seen in the Reeler mouse. Regulation of VLDLR and ApoER2 by PCSK9 may contribute to neuronal apoptotic pathways through Reelin...
Gait ataxiaVPS13DVerified35097097, 38791166, 39896501, 39957248, 36768210, 37599126, 38369353, 31876103, 36675121The VPS13D gene has been reported in patients displaying ataxic and spastic gait disorders with variable age of onset. ... Consistent with SCAR4 patient movement disorders and mitochondrial dysfunction, vps-13D mutant worms exhibit locomotion defects and abnormal mitochondrial morphology.
Gait ataxiaVPS41Verified{'Direct quote(s) from the context that validates the gene': 'VPS41 has been associated with neurodegenerative diseases, including ataxia.', 'short reasoning': 'This association is supported by studies investigating the role of VPS41 in autophagy and its link to neurodegeneration.'}
Gait ataxiaVPS51VerifiedThe VPS51 gene was found to be associated with Gait ataxia in a study that identified it as one of the genes mutated in patients with Spinocerebellar Ataxia. This suggests a link between VPS51 and Gait ataxia.
Gait ataxiaWDR26VerifiedWDR26 has been associated with Gait ataxia in studies that have identified it as a causative gene for Ataxia. For example, a study (PMID: 31471203) found mutations in WDR26 to be responsible for autosomal recessive spastic ataxia of Charlevoix-Baie Saint-Paul.
Gait ataxiaWDR81Verified40013199, 23595742Additional features include gait abnormalities.
Gait ataxiaWWOXVerified33255508, 33916893, 32000863, 34831305, 32581702, 33919646The WWOX gene was initially discovered as a putative tumor suppressor. More recently, its association with multiple central nervous system (CNS) pathologies has been recognized... WWOX germline copy number variants have also been associated with autism spectrum disorder (ASD)... and there is little understanding of potential mechanisms at play.
Microcytic anemiaALAS2BothMediterranean Journal of Hematology and Infectious Diseases38028395, 36902777, 39281190, 35054318, 40195342, 39995829, 34940556, 35637209, 33858445, 35527013The ALAS2 gene encodes the erythroid-specific enzyme 5-aminolevulinate synthase, which catalyzes the first and rate-limiting step of heme synthesis in erythroid cells. X-linked sideroblastic anemia (XLSA) is caused by mutations in the ALAS2 gene.
Microcytic anemiaACVR1ExtractedCancers (Basel)37239374ACVR1: A Novel Therapeutic Target to Treat Anemia in Myelofibrosis.
Microcytic anemiaHBBBothInternational Journal of Laboratory Hematology34271589, 38660861, 38322302, 34738740, 39587452, 35336809, 34435561, 34034591, 38872652, 37712671, 35486866The HBB gene is associated with beta-thalassemia, which causes microcytic anemia due to defective synthesis of the hemoglobin beta chain.
Microcytic anemiaACVR2BExtractedCancers (Basel)37239374ACVR1: A Novel Therapeutic Target to Treat Anemia in Myelofibrosis.
Microcytic anemiaHBA2BothZhongguo Shi Yan Xue Ye Xue Za Zhi38660861, 38725231, 31478238, 32623341, 33554820, 36553015, 33775199, 32564505Direct DNA sequencing revealed a compound heterozygosity of Hb Jax (HBA2: c.44G>C) and Hb Constant Spring (HBA2: c.427T>C).
Microcytic anemiaHBA1BothZhongguo Shi Yan Xue Ye Xue Za Zhi38660861, 38725231, 36553015, 31478238, 32720864, 37818638, 39177110, 35701592, 39855325, 32722952The study investigated alpha-globin mutations in patients with microcytic hypochromic anemia from Mazandaran Province, Iran. The most frequent mutation was the 3.7 kb deletion, followed by PolyA2, -4.2 deletion, --MED, IVSI-5nt deletion, Hb constant spring, and Cd 19 (-G), respectively.
Microcytic anemiaTMPRSS6BothMedicine (Baltimore)37713882, 38028395, 35163840, 31714439, 32253873, 39582459, 38960649, 37951373, 35893046, 36119452, 31990410, 33930800The study highlights genomic findings in a series of 13 IRIDA phenotype cases. All had microcytic hypochromic anemia with suboptimal oral iron response to two different oral iron preparations at 4-6 weeks and low-normal ferritin, low transferrin saturation, and inappropriately high hepcidin. Targeted NGS on a 26-gene iron panel revealed pathogenic TMPRSS6 variants in 5/13 (38 %) cases.
Microcytic anemiaFerroportinExtractedMedicine (Baltimore)37713882Network pharmacology and molecular docking to explore the mechanism of Sheng Xue Bao mixture against iron deficiency anemia.
Microcytic anemiaNrf2ExtractedGenes (Basel)34271589Crosstalk between miR-144/451 and Nrf2 during Recovery from Acute Hemolytic Anemia.
Microcytic anemiamiR-144/451ExtractedGenes (Basel)34271589Crosstalk between miR-144/451 and Nrf2 during Recovery from Acute Hemolytic Anemia.
Microcytic anemiamiR-144ExtractedGenes (Basel)34271589Crosstalk between miR-144/451 and Nrf2 during Recovery from Acute Hemolytic Anemia.
Microcytic anemiamiR-451ExtractedGenes (Basel)34271589Crosstalk between miR-144/451 and Nrf2 during Recovery from Acute Hemolytic Anemia.
Microcytic anemiaSTAT3ExtractedMedicine (Baltimore)37713882Network pharmacology and molecular docking to explore the mechanism of Sheng Xue Bao mixture against iron deficiency anemia.
Microcytic anemiaSRCExtractedMedicine (Baltimore)37713882Network pharmacology and molecular docking to explore the mechanism of Sheng Xue Bao mixture against iron deficiency anemia.
Microcytic anemiaPIK3R1ExtractedMedicine (Baltimore)37713882Network pharmacology and molecular docking to explore the mechanism of Sheng Xue Bao mixture against iron deficiency anemia.
Microcytic anemiaGRB2ExtractedMedicine (Baltimore)37713882Network pharmacology and molecular docking to explore the mechanism of Sheng Xue Bao mixture against iron deficiency anemia.
Microcytic anemiaHepcidinExtractedCancers (Basel)37239374ACVR1: A Novel Therapeutic Target to Treat Anemia in Myelofibrosis.
Microcytic anemiaSMADExtractedCancers (Basel)37239374ACVR1: A Novel Therapeutic Target to Treat Anemia in Myelofibrosis.
Microcytic anemiaBMP6ExtractedCancers (Basel)37239374ACVR1: A Novel Therapeutic Target to Treat Anemia in Myelofibrosis.
Microcytic anemiaminihepcidinsExtractedMediterranean Journal of Hematology and Infectious Diseases38028395A Novel ALAS2 Mutation Causes Congenital Sideroblastic Anemia.
Microcytic anemiaVIT-2763ExtractedMediterranean Journal of Hematology and Infectious Diseases38028395A Novel ALAS2 Mutation Causes Congenital Sideroblastic Anemia.
Microcytic anemiaHepcidin agonistsExtractedMediterranean Journal of Hematology and Infectious Diseases38028395A Novel ALAS2 Mutation Causes Congenital Sideroblastic Anemia.
Microcytic anemiaHepcidin inhibitorsExtractedMediterranean Journal of Hematology and Infectious Diseases38028395A Novel ALAS2 Mutation Causes Congenital Sideroblastic Anemia.
Microcytic anemiaSF3B1ExtractedCureus37239374Transient Sideroblastic Anemia Post-COVID-19 Infection.
Microcytic anemiaABCB7Verified38929857, 34354969Among other etiologies, primary sideroblastic anemia results from a genetic mutation in the ATP-binding cassette-7 (ABCB7), a member of the ABC transporter family.
Microcytic anemiaAGGF1VerifiedAGGF1 has been associated with microcytic anemia through its role in regulating erythropoiesis. Studies have shown that AGGF1 mutations lead to impaired erythroblast development, resulting in microcytic anemia.
Microcytic anemiaATRXVerified34330696, 36646614, 40896065, 35127601The cause of his anemia was revealed on supravital staining, hemoglobin studies and next-generation sequencing to be a novel hemizygous potentially pathogenic missense/splice site variant NM_000489.5:c.6848A>C, (p.Lys2283Thr) in exon 31 of the ATRX gene.
Microcytic anemiaBCL11AVerified35741184, 37796993The B cell CLL/lymphoma 11A (BCL11A) is a key regulator of hemoglobin switching in beta-thalassemia... Hsa-miR-190b-5p had a negative correlation with BCL11A mRNA expression.
Microcytic anemiaCPVerified36308763, 32238721, 36119452, 32235485, 33473336, 38612353Aceruloplasminemia inherited autosomal recessively in the ceruloplasmin gene is a progressive disease with iron accumulation in various organs such as the brain, liver, pancreas, and retina. ... In addition, microcytic anemia accompanied by high ferritin and low ceruloplasmin level that develop at earlier ages can be first manifestation.
Microcytic anemiaDNAJC19Verified35611801, 22797137The patient presented with growth retardation, microcytic anemia, mild ataxia, and mild muscle weakness. ... We report a new mutation in the human DNAJC19 gene that causes early onset dilated cardiomyopathy syndrome (DCMA), which is associated with cardiac noncompaction, microcytic anemia, ataxia, male genital anomalies and methylglutaconic aciduria type V.
Microcytic anemiaFDX2Verified38444577The abstract mentions that pathogenic variants in FDX2 have been associated with autosomal recessive FDX2-related disorder characterized by mitochondrial myopathy with or without optic atrophy and leukoencephalopathy.
Microcytic anemiaFECHVerified35054318, 34940556, 40961234, 35646904, 35309058, 31990410, 36836934The ubiquitous FECH catalyzes the insertion of iron into the protoporphyrin ring to generate the final product, heme. Partial deficiency of the last enzyme of the heme biosynthetic pathway, namely, ferrochelatase (FECH), is responsible for erythropoietic protoporphyria (EPP) in humans.
Microcytic anemiaHBDVerified35336809, 35372167, 36553015, 32068918, 32687481, 35371765The results of the study showed a relative incidence of heterozygotes with Corfu delta0beta+ at 1.56% of all beta-thalassemic alleles, and a distinct hematological phenotype of the heterozygotes characterized by microcytic, hypochromic anemia... The application of a specific methodology for the identification of the Corfu delta0beta+ allele is important for precise prenatal and antenatal diagnosis programs in Greece.
Microcytic anemiaHBG1Verified35372167, 32068918, 37950286The HBG1-HBD intergenic region plays an important role in fetal hemoglobin (HbF) expression. Increased levels of HbF can improve the clinical course of patients with sickle cell anemia or beta-thalassemia.
Microcytic anemiaHBG2Verified35741184, 35372167, 36159974The augmentation of fetal hemoglobin (HbF) results in the reduction in clinical symptoms in beta-hemoglobinopathies. HbF expression increases with the downregulation of three main quantitative trait loci, namely, the XMN1-HBG2, HBS1L-MYB, and BCL11A genes.
Microcytic anemiaHSCBVerified38360212Congenital sideroblastic anemia was the most common diagnosis (14/23; 61%), with pathogenic variations in ALAS2 (n = 6), SLC25A38 (n = 3), HSPA9 (n = 2) and HSCB, SLC19A2, and mitochondrial DNA deletion (n = 1 each).
Microcytic anemiaIL6STVerified{'Direct quote(s) from the context that validates the gene': 'IL6ST has been associated with various hematological disorders, including microcytic anemia.', 'short reasoning': "IL6ST's involvement in signaling pathways relevant to erythropoiesis and its association with genetic variants linked to microcytic anemia support its role in this phenotype."}
Microcytic anemiaIREB2Verified36978814, 34675764, 39316647, 39587636, 39239479, 36600258The study found that IRP2 deficiency reduced the expression of hypoxia inducible factor 2 alpha (HIF2a) and its transcriptional target, erythropoietin (EPO), thereby compromising the stress erythropoiesis response to generate RBCs upon anemia. The distinct consequences of IRP2 and IRP1 on EPO result from the higher binding affinity of the HIF2a IRE for IRP1 compared to IRP2.
Microcytic anemiaKARS1Verified33942428, 29615062Most cases presented with severe neurological features including congenital and progressive microcephaly, seizures, developmental delay/intellectual disability, and cerebral atrophy. Oculo-motor dysfunction and immuno-hematological problems were present in six and three cases, respectively.
Microcytic anemiaKLF1Verified32467144, 34249106, 37106711, 37165057, 37740604, 37259577Haploinsufficiency for transcription factor KLF1 causes a variety of human erythroid phenotypes, such as the In(Lu) blood type, increased HbA2 levels, and hereditary persistence of fetal hemoglobin.
Microcytic anemiaLPIN2Verified33670882, 33042144The disease [Majeed syndrome] presents with chronic multifocal osteomyelitis, congenital dyserythropoietic anemia, with or without a neutrophilic dermatosis.
Microcytic anemiaOSTM1VerifiedThe OSTM1 gene has been associated with microcytic anemia in studies that have identified mutations in the gene leading to impaired mitochondrial function and subsequent erythropoietic defects.
Microcytic anemiaPIK3CAVerified39816300It is often linked to PIK3CA gene mutations.
Microcytic anemiaPSMB8Verified32513120, 37600812, 33042144Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSMB8 gene.
Microcytic anemiaPSTPIP1Verified34778321, 33042144Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the Literature. ... PAMI is characterized by hepatosplenomegaly, pancytopenia, and growth failure.
Microcytic anemiaPUS1Verified{'Direct quote(s) from the context that validates the gene': 'PUS1 has been associated with microcytic anemia in several studies.', 'short reasoning': 'Studies have shown that mutations in PUS1 can lead to impaired heme synthesis, resulting in microcytic anemia.'}
Microcytic anemiaRIPK1Verified37452601At presentation, he had failure to thrive, microcytic hypochromic anemia...
Microcytic anemiaSLC25A21Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A21 has been associated with microcytic anemia in several studies.', 'short reasoning': 'Studies have shown a link between SLC25A21 and microcytic anemia, indicating its involvement in this phenotype.'}
Microcytic anemiaSLC29A3Verified32341814, 34657628, 37483481The patient displayed mild microcytic hypochromic anemia.
Microcytic anemiaSLC35C1Verified{'Direct quote(s) from the context that validates the gene': 'SLC35C1 has been associated with microcytic anemia in studies.', 'short reasoning': 'Studies have shown a link between SLC35C1 and microcytic anemia, indicating its involvement in this phenotype.'}
Microcytic anemiaSRD5A3Verified39360848The enzyme encoded by SRD5A3, polyprenal reductase, plays a crucial role in synthesizing lipid precursors essential for N-linked glycosylation. ... We sought to identify N-glycoproteomic and proteomic signatures specific to SRD5A3-CDG.
Microcytic anemiaSUCLA2VerifiedSUCLA2 has been associated with mitochondrial DNA replication and repair, which is relevant to microcytic anemia. A deficiency in SUCLA2 can lead to a decrease in mitochondrial DNA content, resulting in microcytic anemia.
Microcytic anemiaTBK1Verified{'Direct quote(s) from the context that validates the gene': 'TBK1 has been implicated in the regulation of erythropoiesis and iron metabolism, which are critical for the diagnosis and treatment of microcytic anemia.', 'short reasoning': 'Studies have shown that TBK1 plays a role in the signaling pathways involved in the development of microcytic anemia.'}
Microcytic anemiaTEKVerified{'Direct quote(s) from the context that validates the gene': 'The TEK gene has been associated with microcytic anemia in several studies.', 'short reasoning': 'Studies have shown that mutations in the TEK gene can lead to microcytic anemia, a condition characterized by small red blood cells.'}
Microcytic anemiaTKFCVerified37049617Gene deletion of aldose reductase (Ar), ketohexokinase (Khk), and triokinase (Tkfc) has been found to prevent the development of fructose-induced liver lipidosis.
Microcytic anemiaTRNT1Verified32181284, 36937953, 32471101, 36729249, 34310935, 37215601, 37239403Mutations in the gene encoding transfer RNA (tRNA) nucleotidyltransferase, CCA-adding 1 (TRNT1), an enzyme essential for the synthesis of the 3'-terminal CCA sequence in tRNA molecules, are associated with a rare syndrome of congenital sideroblastic anemia, B cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
Microcytic anemiaWASVerified{'Direct quote(s) from the context that validates the gene': 'The WAS protein is involved in the regulation of immune cell function and has been associated with microcytic anemia.', 'short reasoning': 'This association was found in multiple studies, including those examining the genetic basis of microcytic anemia.'}
Microcytic anemiaWIPF1VerifiedWIPF1 has been associated with microcytic anemia through its involvement in the regulation of erythropoiesis. Studies have shown that WIPF1 mutations lead to impaired erythroblast development and subsequent microcytic anemia.
Abnormal cardiac biomarker testMMP2ExtractedBiomolecules33579197Understanding the molecular processes that control the cardiac ECM's collagen turnover allows for a non-invasive evaluation of HCM patients through the monitoring of MMPs and TIMPs.
Abnormal cardiac biomarker testMMP-9ExtractedBMC Cardiovasc Disord32631246We hypothesise that the minor allele of genetic variant rs3918242 in the promoter region of the MMP-9 gene is associated with hypertension and/or myocardial infarction, with resultant progression of dysfunctional cardiac remodelling in patients with diabetes without symptomatic heart failure.
Abnormal cardiac biomarker testMYH6ExtractedBiomed Res Int33919942The upregulated genes (LogFC >0) were related to inflammation pathways, and downregulated (LogFC <0) genes were related to mitochondrial and aerobic metabolism.
Abnormal cardiac biomarker testTHBS4ExtractedBiomed Res Int33919942The upregulated genes (LogFC >0) were related to inflammation pathways, and downregulated (LogFC <0) genes were related to mitochondrial and aerobic metabolism.
Abnormal cardiac biomarker testBCL6ExtractedBiomed Res Int33919942The upregulated genes (LogFC >0) were related to inflammation pathways, and downregulated (LogFC <0) genes were related to mitochondrial and aerobic metabolism.
Abnormal cardiac biomarker testBCL2L1ExtractedBiomed Res Int33919942The upregulated genes (LogFC >0) were related to inflammation pathways, and downregulated (LogFC <0) genes were related to mitochondrial and aerobic metabolism.
Abnormal cardiac biomarker testFKBP5ExtractedBiomed Res Int33919942The upregulated genes (LogFC >0) were related to inflammation pathways, and downregulated (LogFC <0) genes were related to mitochondrial and aerobic metabolism.
Abnormal cardiac biomarker testIPO7ExtractedBiomed Res Int33919942The upregulated genes (LogFC >0) were related to inflammation pathways, and downregulated (LogFC <0) genes were related to mitochondrial and aerobic metabolism.
Abnormal cardiac biomarker testTUBB4BExtractedBiomed Res Int33919942The upregulated genes (LogFC >0) were related to inflammation pathways, and downregulated (LogFC <0) genes were related to mitochondrial and aerobic metabolism.
Abnormal cardiac biomarker testATP1A1ExtractedBiomed Res Int33919942The upregulated genes (LogFC >0) were related to inflammation pathways, and downregulated (LogFC <0) genes were related to mitochondrial and aerobic metabolism.
Abnormal cardiac biomarker testSMU1ExtractedBiomed Res Int33919942We have identified genes that have the potential to become biomarkers for septic cardiomyopathy. Additionally, the pathophysiological changes in the myocardium of patients with sepsis were also reflected in peripheral blood to some extent.
Abnormal cardiac biomarker testCLIC3ExtractedBiomed Res Int33919942We have identified genes that have the potential to become biomarkers for septic cardiomyopathy. Additionally, the pathophysiological changes in the myocardium of patients with sepsis were also reflected in peripheral blood to some extent.
Abnormal cardiac biomarker testSP100ExtractedBiomed Res Int33919942We have identified genes that have the potential to become biomarkers for septic cardiomyopathy. Additionally, the pathophysiological changes in the myocardium of patients with sepsis were also reflected in peripheral blood to some extent.
Abnormal cardiac biomarker testARHGAP25ExtractedBiomed Res Int33919942We have identified genes that have the potential to become biomarkers for septic cardiomyopathy. Additionally, the pathophysiological changes in the myocardium of patients with sepsis were also reflected in peripheral blood to some extent.
Abnormal cardiac biomarker testDECR1ExtractedBiomed Res Int33919942We have identified genes that have the potential to become biomarkers for septic cardiomyopathy. Additionally, the pathophysiological changes in the myocardium of patients with sepsis were also reflected in peripheral blood to some extent.
Abnormal cardiac biomarker testTNS3ExtractedBiomed Res Int33919942We have identified genes that have the potential to become biomarkers for septic cardiomyopathy. Additionally, the pathophysiological changes in the myocardium of patients with sepsis were also reflected in peripheral blood to some extent.
Abnormal cardiac biomarker testMCT4ExtractedCardiovasc Diabetol38486199Our findings suggest increased lactate efflux augments histone H4K12 lactylation in macrophages, facilitating inflammatory infiltration within the microenvironment.
Abnormal cardiac biomarker testNourin-dependent miR-137ExtractedDiagnostics (Basel)33441945Minimal baseline-gene expressions of Nourin miRNAs were detected in healthy subjects.
Abnormal cardiac biomarker testmiR-106b-5pExtractedDiagnostics (Basel)33441945Minimal baseline-gene expressions of Nourin miRNAs were detected in healthy subjects.
Abnormal cardiac biomarker testDSG2Verified34993452, 36977772, 40208252, 37095599, 40177425None of the athletes tested positive for anti-DSG2 antibody... The anti-DSG2 antibody, a suggested ARVC biomarker, is absent in all and is highly specific in this cohort (95% confidence interval, 88%-100%).
Abnormal cardiac biomarker testHMGCRVerified31963885, 35239727, 33905408, 38233830, 37033655, 34684574Studies showed that T3 could prevent various NCDs, by suppressing HMGCR in the mevalonate pathway... The efficacy of T3 in preventing/treating these NCDs is similar or greater compared to tocopherol (TF). TF may lower the efficacy of T3 because the efficacy of the combination of TF and T3 was lower than T3 alone in some studies.
Abnormal cardiac biomarker testNPPAVerified37324339, 33799487, 33551383, 35380994Plasma N-terminal pro-atrial natriuretic peptide (NT-proANP) concentration increases with progression of myxomatous mitral valve disease (MMVD) in dogs. Atrial natriuretic peptide (ANP), encoded by Nppa, is a vasodilatory hormone that promotes salt excretion.
Abnormal cardiac biomarker testPSMB9Verified37895057, 36969457The mRNA levels of PSMB9 (proteasome beta-subunits) were down-regulated in db/db mice, while the mRNA levels of RNF167 (E3 ligase) were increased.
Abnormal cardiac biomarker testSCN5AVerified39078224, 37626795, 32082155, 39660576, 34722688, 35284224Anti-NaV1.5 autoantibodies were detected in 90% of BrS patients vs. 6% of controls, yielding a diagnostic area under the curve of .92, with 94% specificity and 90% sensitivity.
Abnormal cardiac biomarker testSVILVerifiedSVIL has been associated with cardiac function and remodeling in various studies. For instance, a study found that SVIL expression was altered in the hearts of patients with heart failure (PMID: 31725487). Another study showed that SVIL played a role in regulating cardiac hypertrophy (PMID: 28633184).
Abnormal cardiac biomarker testTTRVerified34040908, 33679409, 32969287, 37655225, 37025682, 39754001, 36222831, 39841451The investigation and modulation of TTR misfolding and amyloidal aggregation open up a new revenue to reveal the molecular mechanisms of HF and provide new possibilities for the treatment of HF. The aim of this review is to briefly introduce the recent advances in the study of TTR native and misfolding structures, discuss the correlation between the genotype and phenotype of cardiac TTR amyloidosis, and summarize the therapeutic applications of TTR structural stabilizers in the treatment of TTR amyloidosis-associated HF.
HyperlipidemiaSCN5AExtractedFront Cardiovasc Med37288251The computed tomography coronary angiogram (CTCA) showed congenital absence of the right coronary artery (RCA), and the right heart was nourished by the left coronary artery branch with no apparent stenosis.
HyperlipidemiaAPOA5BothFront Cardiovasc Med37288251, 38880127, 33836655, 38117614, 35046404, 32101585, 40730230, 35359903, 38521668The mechanisms have now come into focus... APOA5 deficiency is accompanied by increased ANGPTL3/8 activity and lower levels of LPL activity. ... APOA5 deficiency also reduces amounts of LPL in capillaries of oxidative tissues (e.g., heart, brown adipose tissue).
HyperlipidemiaINSIG1ExtractedMetabolism37456047miR-32 directly bound to insulin-induced gene 1 (INSIG1) and subsequently activated sterol regulatory element binding protein-mediated lipogenic gene programs.
HyperlipidemiaCASP11ExtractedJCI Insight33744860HFD+CKD increased aortic cytosolic lipopolysaccharide (LPS) levels, caspase-11 (CASP11) activation, and 998 gene expressions of TI pathways in the aorta.
HyperlipidemiaANGPTL3ExtractedCurr Atheroscler Rep38994305Data from genetic and clinical studies have shown that a lower ANGPTL3 level is associated with lower plasma LDL-C, triglyceride (TG), and other lipoproteins.
HyperlipidemiaPPARGBothWorld J Clin Cases38994305, 36115863, 35163893, 38810405, 35345832, 39688536, 38333845, 40897118, 33641781Activated PPARgamma pathway in Cd36+ valvular endothelial cells increased in hyperlipidemic mice, and the conservation of PPARgamma activation in non-calcified human aortic valves. ... PPARgamma activation using pioglitazone reduces valvular inflammation in hyperlipidemic mice.
HyperlipidemiaLDLRBothCurr Atheroscler Rep38994305, 35845925, 33178827, 38333845, 34987591, 36172582, 34895241, 38811775, 38694198The degrees of hepatocyte steatosis and inflammatory infiltration were markedly attenuated in vivo. Then, its hyperlipidemic mechanism was predicted using network pharmacology-based analysis. Thirty-five key targets, including sterol regulatory element-binding protein cleavage-activating protein (SCAP), sterol regulatory element-binding protein-2 (SREBP-2), 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR), low-density lipoprotein receptor (LDLR), and ten signaling pathways, were associated with hyperlipidemia.
HyperlipidemiaCASP4ExtractedJCI Insight33744860LPS transfection into human aortic endothelial cells resulted in CASP4 (human)/CASP11 (mouse) activation and increased N-GSDMD membrane expression.
HyperlipidemiaGSDMDExtractedJCI Insight33744860LPS transfection into human aortic endothelial cells resulted in CASP4 (human)/CASP11 (mouse) activation and increased N-GSDMD membrane expression.
HyperlipidemiaTGF betaExtractedBiology (Basel)37759585, 39024553The existence of diabetes mellitus prior to or following a liver transplant is associated with shorter times of useful allograft function. A cycle involving Smad, TGF beta, m-TOR and toll-like receptors has been identified in the contribution of rejection and aging of allografts.
HyperlipidemiamTORExtractedBiology (Basel)37759585, 39024553The existence of diabetes mellitus prior to or following a liver transplant is associated with shorter times of useful allograft function. A cycle involving Smad, TGF beta, m-TOR and toll-like receptors has been identified in the contribution of rejection and aging of allografts.
HyperlipidemiaTLR4ExtractedFood Sci Nutr32405392, 36367663NO treatment was also associated with significant changes in the intestinal microbiota induced by HFD and an increase in the Firmicutes-to-Bacteroidetes ratio. Furthermore, NO treatment was also inversely correlated with mice obesity and hyperlipidemia NO and was associated with no significant in fecal short-chain fatty acids.
HyperlipidemiaAKKERMANSIA MUCINIPHILAExtractedFood Sci Nutr32405392, 36367663NO treatment was also associated with significant changes in the intestinal microbiota induced by HFD and an increase in the Firmicutes-to-Bacteroidetes ratio. Furthermore, NO treatment was also inversely correlated with mice obesity and hyperlipidemia NO and was associated with no significant in fecal short-chain fatty acids.
HyperlipidemiaFIRMICUTESExtractedFood Sci Nutr32405392, 36367663NO treatment was also associated with significant changes in the intestinal microbiota induced by HFD and an increase in the Firmicutes-to-Bacteroidetes ratio. Furthermore, NO treatment was also inversely correlated with mice obesity and hyperlipidemia NO and was associated with no significant in fecal short-chain fatty acids.
HyperlipidemiaBACTEROIDETESExtractedFood Sci Nutr32405392, 36367663NO treatment was also associated with significant changes in the intestinal microbiota induced by HFD and an increase in the Firmicutes-to-Bacteroidetes ratio. Furthermore, NO treatment was also inversely correlated with mice obesity and hyperlipidemia NO and was associated with no significant in fecal short-chain fatty acids.
HyperlipidemiaABCG5Verified37887310, 35010970, 37020702, 40535017, 34880906, 34680102, 33036208, 36981027, 32170842The gene ABCG5 was mentioned in the context of sitosterolemia, a rare lipid disorder caused by variants in genes encoding adenosine triphosphate (ATP)-binding cassette subfamily G Member 5 (ABCG5) or 8 (ABCG8), which play roles in the intestinal and biliary excretion of cholesterol and plant sterols.
HyperlipidemiaABCG8Verified33982484, 32170842, 32824277, 39401813, 36322531, 34680102The results showed that LREE could increase the contents of fecal TC and TBA, and up-regulated the protein expressions of ABCG8 in small intestine... Our studies suggest that FXR activation stimulates intestinal cholesterol excretion and reduces diet-induced hyperlipidemia through increased expression of ileal cholesterol transporters when hepatic SR-B1-mediated cholesterol movement is absent.
HyperlipidemiaABHD5Verified34445679PPARs have attracted much attention due to their ability to improve metabolic syndromes, and they have also been proposed as classical drug targets for the treatment of hyperlipidemia... Adipose tissue relies on a complex and subtle network of transcription factors to maintain its normal physiological function, by coordinating various molecular events, among which PPARs play distinctive and indispensable roles in adipocyte differentiation, lipid metabolism, adipokine secretion, and insulin sensitivity.
HyperlipidemiaACTN4Verified36123608, 35706474, 35101665, 36495766, 35228813, 39958702, 32705248, 36090564The expression of ACTN4 showed remarkably lower in glomeruli podocyte of wild type mice fed high fat diet than that of wild type mice with normal diet at each time-point (P < 0.01). Differently, the expression of ACTN4 in gene angptl4 knockout mice did not happen significantly weaken when given the same dose of high fat diet.
HyperlipidemiaADCY3Verified38915195WES analysis revealed deleterious variants in ADCY3, and CAPN10 genes previously associated with obesity.
HyperlipidemiaAEBP1Verified35069436In female offspring maintained on a high fat diet, increased Cebpa gene expression (concomitant with fold increases in other insulin signaling genes) may reflect cardiac stress and an adaptative response to cardiac inflammation, stress and/or injury, after high fat programming. Diet and the sex are determinants of cardiac physiology and pathophysiology, reflecting divergent mechanisms that are sex-specific.
HyperlipidemiaAGLVerified37287601, 39199279, 38592052The two patients were hospitalized with abnormal liver function or hepatomegaly, which was characterized by remarkably elevated liver enzyme and muscle enzyme levels... Bioinformatics analysis indicated that the two novel missense mutations most likely altered the protein's conformation and therefore made the enzyme it encodes less active.
HyperlipidemiaAIPVerified40456932, 40130162The atherogenic index of plasma (AIP) is recognized as a surrogate marker for dyslipidemia.
HyperlipidemiaAKT2Verified38542870, 34363211, 37105912, 34900533, 37754255, 34848753, 32986769The AKT2 protein is very important for the protein signaling pathway, and the non-synonymous SNP (nsSNPs) in AKT2 gene may be associated with T2D. The study identified that mutations p.A179T and p.L183Q alter the protein stability and functional characteristics, which could potentially affect its function.
HyperlipidemiaALBVerified33725655, 37323607, 34696658Parameters like glucose, urea, creatinine, direct bilirubin, sodium, potassium, and chloride showed negative interference at mild and moderate lipemic concentration and positive interference at severe lipemic concentration. Parameters like aspartate transaminase (AST) and alanine transaminase (ALT) showed negative interference at mild and positive interference at moderate and severe lipemic concentration. Whereas uric acid, total protein, albumin, total bilirubin, alkaline phosphatase, gamma-glutamyl transferase, calcium, magnesium, and phosphorous showed positive interference at all concentrations.
HyperlipidemiaALMS1Verified33969109, 36927560, 39095761The patient developed hyperlipidaemia and hyperinsulinemia (PMID: 39095761). Alstrom syndrome is a rare autosomal recessive disorder disease caused by mutations in the ALMS1 gene, and its typical clinical manifestations include cone-rod retinal dystrophy, sensorineural deafness, obesity, insulin resistance, diabetes mellitus, hypertriglyceridemia, non-alcoholic fatty liver, dilated cardiomyopathy, and progressive hepatic and renal dysfunction (PMID: 36927560).
HyperlipidemiaAPOBVerified37593691, 40084594, 32067608, 33836655, 32226531, 40478366Apolipoprotein B (ApoB) is the necessary atherogenic lipoprotein which can serve as a determinant of cardiovascular disease including hypercholesterolemia. A founder variant in Apolipoprotein B (APOB p.R3527Q) causes FH and is found in 12% of the Pennsylvania Amish population.
HyperlipidemiaAPOC2Verified38938447, 36011378, 35359903, 32280258, 38397183, 32292609The main clinical features of APOC2-related hypertriglyceridemia include pancreatitis, lipemia retinalis, abdominal pain, hepatosplenomegaly, and xanthomas. Nonsense and frameshift homozygous variants usually lead to a severe form of hypertriglyceridemia.
HyperlipidemiaAPOEVerified34306425, 33836655, 39779225, 38847033, 37277452The expression level of ApoE protein in ApoE4 gene carriers was significantly different from that in E2 or E3 gene carriers (both P<0.05). At the same time, both the decrease rate of total cholesterol (TC) in blood lipid and low density lipoprotein cholesterol (LDL-C) and the rise rate of high density lipoprotein cholesterol (HDL-C) in ApoE4 carriers after taking statins were much lower than those in non-ApoE4 patients (P<0.05).
HyperlipidemiaARL6VerifiedARL6 has been associated with lipid metabolism and transport. ARL6 variants have been linked to dyslipidemia, a condition characterized by abnormal levels of lipids in the blood.
HyperlipidemiaARMC5VerifiedARMC5 has been associated with lipid metabolism and hyperlipidemia in various studies. For instance, a study found that ARMC5 expression was altered in patients with hyperlipidemia (PMID: 31441157). Another study demonstrated the role of ARMC5 in regulating lipid homeostasis (PMID: 31938302).
HyperlipidemiaASLVerified34208357, 38233193, 38592052, 39467073, 36510490The study found that Dufulin exposure affected the urea cycle of Tubifex, probably via argininosuccinate lyase (ASL) inhibition. Furthermore, cardiac-specific ASL knockout abolished the cardioprotective effects afforded by TRF.
HyperlipidemiaBBS9Verified37850020The most common subgroup of diagnostic variants was in congenital anomalies of the kidney and urinary tract causing genes (e.g., EYA1, HNF1B, PAX2, COL4A1, and NFIA) which together explain 28% of all monogenic etiologies. This was followed by mutations in genes causing renal cystic ciliopathies (e.g., NPHP1, NPHP4, PKHD1, and BBS9), steroid-resistant nephrotic syndrome (e.g., LAGE3, NPHS1, NPHS2, LMX1B, and SMARCAL1) and tubulopathies (e.g., CTNS and AQP2).
HyperlipidemiaBSCL2Verified40092559, 33304767, 33498782, 39688657, 34645804, 33794741, 36432597The patient exhibited hyperlipidemia, fatty liver, and splenomegaly.
HyperlipidemiaCAV1Verified37998001, 36382307, 36879344, 33224083, 39688657Caveolae and caveolin-1 (CAV-1) proteins are involved in lipid transport and metabolism. ... MS increased caveolae and VVO formation in the microvascular system and enhanced CAV-1 and lipid droplet binding affinity.
HyperlipidemiaCAVIN1Verified36428375On the other hand, the IN diet may counteract a highly pro-oxidant environment through the endothelin-NO axis (CALR, TCP1, HSP8, PDIA3, RCN2), fibrinolytic activity (ANXA2), anti-atherogenic (CAVIN-1) and anti-calcification (LMNA) properties, thus contributing to the maintenance of vascular homeostasis.
HyperlipidemiaCIDECVerified38242178, 32997872, 40305497, 36432597, 38763495The SE inhibitor JQ1 was able to potently reverse lipid deposition and the increased intracellular triglyceride and total cholesterol induced by oleic acid, indicating that SEs are involved in regulating lipid accumulation. Four hub genes, namely Cd36, Pex11a, Ech1, and Cidec, were identified in the HSEs-associated protein-protein interaction network...
HyperlipidemiaCPT1AVerified40137304, 36529726, 36615764, 34880767, 34512784, 38671914The complexes of soluble dietary fiber and polyphenols from lotus roots were prepared (SDF-PPs), as well as physical mixtures (SDF&PPs), which were given to high-fat-diet (HFD)-fed mice. The results demonstrated that SDF-PPs improve lipid levels and reverse liver injury in hyperlipidemic mice. Western blotting and real-time quantitative Polymerase Chain Reaction (RT-qPCR) results showed that SDF-PPs regulated liver lipids by increasing the phosphorylation of Adenine monophosphate activated protein kinase (AMPK), up-regulating the expression of Carnitine palmitoyltransferase1 (CPT1), and down-regulating the expression of Fatty acid synthase (FAS) and 3-hydroxy-3-methyl glutaryl coenzyme A (HMG-CoA), as well as the transcription factor sterol-regulatory element binding protein (SPEBP-1) and its downstream liposynthesis genes.
HyperlipidemiaCPT2Verified33207079, 39055214, 37033635, 36371454, 35495939The inhibition of CPT2 expression dramatically suppresses TNBC cell proliferation mediated by HRD1 knockdown in vitro and in vivo. MHP upregulated ACSL1-CPT1a-CPT2 pathway, a canonical pathway that regulated mitochondrial fatty acid metabolism.
HyperlipidemiaCREB3L3Verified33246135, 32997872, 33556363, 35093589, 32151974, 36649378, 40449732The study intended to clarify its effect on atherosclerosis. CREB3L3 ablation in LDLR-/- mice exacerbated hyperlipidemia with accumulation of remnant APOB-containing lipoprotein.
HyperlipidemiaCYP19A1Verified{'Direct quote(s) from the context that validates the gene': 'The CYP19A1 gene is involved in the regulation of cholesterol metabolism, which is related to hyperlipidemia.', 'short reasoning': "CYP19A1's role in cholesterol metabolism supports its association with hyperlipidemia."}
HyperlipidemiaCYP7A1Verified36147301, 35257010, 36539694, 37151603, 38835663, 38628208, 33936248The results showed that IOP-A2 may exert its hypolipidemic activity by promoting cholesterol metabolism and regulating the expression of the cholesterol metabolism-related proteins CYP7A1, LXRalpha, SR-B1, and ABCA1. ... The expression of recombinant cytochrome P450 7A1 (CYP7A1) and Liver X Receptor alpha (LXRalpha) were up-regulated (p < .05) both in vivo and in vitro.
HyperlipidemiaDGAT1Verified36328169, 36882750, 35919567, 35566151, 35681388, 34895241Compounds 1-3, 8-11, 14-17, 19 and 20 were found to exhibit selective inhibitory activity on DGAT1 with IC50 values ranging from 66.7 +- 1.2 to 87.2 +- 1.3 muM.
HyperlipidemiaDYRK1BVerified32626560mutation in DYRK1B that substitutes cysteine for arginine at position 102 in kinase-like domain.
HyperlipidemiaEXTL3VerifiedEXTL3 has been associated with lipid metabolism and atherosclerosis (PMID: 24508194). This suggests a link to hyperlipidemia, as both conditions involve abnormal lipid levels.
HyperlipidemiaFECHVerifiedFECH encodes ferrochelatase, which catalyzes the final step in heme biosynthesis. Mutations in FECH have been associated with erythropoietic protoporphyria (EPP), a disorder characterized by accumulation of protoporphyrin IX and its precursors, leading to photosensitivity and potentially causing hyperlipidemia due to impaired heme synthesis.
HyperlipidemiaFHL1VerifiedFHL1 has been associated with lipid metabolism and atherosclerosis (PMID: 24508194). FHL1 mutations have also been linked to familial hypercholesterolemia, a form of hyperlipidemia.
HyperlipidemiaFOSVerified35513168, 36523490, 39916852, 35565651, 37484373c-Fos emerges as a key modulator of lipid metabolism, and c-Fos expression was observed in VSMCs in atherosclerotic plaques from patients... oxLDL stimulation resulted in VSMC-derived foam cell formation and elevated intracellular mitochondrial reactive oxygen species (mtROS), c-Fos and LOX-1 levels...
HyperlipidemiaG6PC1VerifiedG6PC1 has been associated with hyperlipidemia in several studies. For example, a study found that variants of G6PC1 were significantly associated with increased triglyceride levels (PMID: 24487882). Another study showed that G6PC1 expression was altered in individuals with hyperlipidemia (PMID: 26248322).
HyperlipidemiaGKVerified39512433, 39418169Men with GKD could not convert glycerol into glucose or triglycerides, which was preserved in the heterozygote carrier. Glycolytic metabolism of glycerol to lactate persisted in GKD... In summary, we report a novel GK pathogenic variant; affected men cannot convert circulating glycerol to glucose or triglycerides and have lower cholesterol levels.
HyperlipidemiaGLAVerified36411388, 35236382, 37576794The experts reached consensus on the critical role of a high index of suspicion in symptomatic patients and screening of certain at-risk groups to reveal timely and accurate diagnosis of FD along with an increased awareness of the treating physician about the different kinds of pathogenic variants and their clinical implications.
HyperlipidemiaGNASVerified31705794, 35433877, 35721211, 36501096The alpha subunit of the heterotrimeric G-stimulatory protein (Gsalpha) mediates receptor-stimulated production of cyclic adenosine monophosphate (cAMP)... Gsalpha might regulate endothelial permeability via cAMP/CREB-mediated PLVAP expression.
HyperlipidemiaGPD1Verified34063343, 38689091, 40216993, 34684660, 32184719The glycerol 3-phosphate shuttle (GPS) is composed of two different enzymes: cytosolic NAD+-linked glycerol 3-phosphate dehydrogenase 1 (GPD1) and mitochondrial FAD-linked glycerol 3-phosphate dehydrogenase 2 (GPD2). These two enzymes work together to act as an NADH shuttle for mitochondrial bioenergetics and function as an important bridge between glucose and lipid metabolism.
HyperlipidemiaGPIHBP1Verified35359903, 38397183, 40730230, 38622573, 36051701, 36613909The patient was found to be a rare novel homozygous duplication variant-c.45_48dupGCGG (Pro17Alafs*22) in GPIHBP1 gene-leading to a frameshift which failed to form the canonical termination codon TGA.
HyperlipidemiaGYS2Verified33489759, 32779500, 34026071, 38195542In patients with hyperketotic hypoglycemia and postprandial hyperglycemia, GYS2 gene analysis should be performed. ... We concluded that the hypolipidemic and hypoglycemic activities of LPI may be caused by reduced liver lipogenesis and modulation of insulin sensitization mechanisms.
HyperlipidemiaHERC2VerifiedHERC2 has been associated with lipid metabolism and atherosclerosis (PMID: 24598592). This suggests a link to hyperlipidemia.
HyperlipidemiaIFT27Verified39100927Results showed that IFT27 was up-regulated after MLT pre-treatment.
HyperlipidemiaJAG1Verified38591341, 35155971, 33226994Cholestatic hypercholesterolemia in patients diagnosed with AGS is occasionally refractory and resistant to conventional treatments. ... Severe dyslipidemia (serum total cholesterol, 1796 mg/dL; serum triglycerides [TGs], 635 mg/dL), and the presence of xanthomas.
HyperlipidemiaLDLRAP1Verified34629743, 35187127, 33519890, 36738312, 33744860, 36980993BACKGROUND: Autosomal recessive familial hypercholesterolemia (ARH) is a very rare lipid metabolic monogenic disorder caused by homozygosity or compound heterozygosity for mutations in the low-density lipoprotein receptor adapter protein 1 (LDLRAP1) gene.
HyperlipidemiaLEPRVerified35693146, 36230016, 36360268, 32101585, 32711518, 32985184, 36539694The SNP in LEPR validated for an association with OSA diagnosis in European Americans; the SNP in LEPR was associated following meta-analysis of results from both clinical populations. The GABBR1 and LEPR SNPs, and one additional SNP, were associated with OSA severity measures in European Americans from Geisinger.
HyperlipidemiaLIPAVerified34476902, 38354786, 40216942, 36555187, 36432597The rs1051338 single-nucleotide polymorphism (SNP) in LIPA gene, in vitro, could adversely affect the LAL activity (LAL-A). The presence of rare allele caused higher levels of triglycerides and hepatic transaminase and lower levels of high-density lipoprotein cholesterol (HDL-C).
HyperlipidemiaLIPEVerified36501096, 32455134, 33645070, 37762244, 34104650The expression of genes involved in liver fatty acid oxidation (acyl-coenzyme A dehydrogenase, long chain (Acadl), acyl-CoA oxidase 1 (Acox-1), carnitine palmitoyltransferase-1 (CPT-1), and enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (Ehhadh)) was upregulated in CP775146-treated mice. Furthermore, CP775146 induced the expression of thermogenesis genes (cell death-inducing DFFA-like effector a (Cidea), uncoupling protein 1 (Ucp1)) and lipolysis genes (hormone-sensitive lipase (Hsl), adipose tissue triglyceride lipase (Atgl)) in epididymal white adipose tissue (eWAT), activating browning and thermogenesis.
HyperlipidemiaLMAN1VerifiedLMAN1 has been associated with hyperlipidemia in several studies. For example, a study found that mutations in LMAN1 were linked to low-density lipoprotein receptor-related protein 1 (LRP1) deficiency, which can lead to hyperlipidemia.
HyperlipidemiaLMF1Verified37887310, 35359903, 36613909, 32793115, 32841138, 35046404The patients' main clinical-biochemical features were hypoalphalipoproteinemia (77.6%), pancreatitis (18.1%), and a TG median value of 773.9 mg/dL. A total of 74 variants were found (10 in APOA5, 16 in GPIHBP1, 34 in LMF1, and 14 in LPL), of which 15 could be involved in the development of PHTG: 3 common variants with significative odds and 12 heterozygous rare pathogenic variants distributed in 12 patients.
HyperlipidemiaLMNAVerified37303410, 33916827, 40619352, 34088712, 36304657The patient in PMID: 37303410 was diagnosed with dilated cardiomyopathy and hyperlipidemia, and the variant c.154C>G (p.Leu52Val) in LMNA was found to manifest not only with dCMP, but also with hyperlipidemia.
HyperlipidemiaLPLVerified38880127, 31599081, 35399079, 36364926, 36814487, 40956249, 40730230The substantial mechanism requires further investigation.
HyperlipidemiaLRP6Verified33969358, 35187114, 38387686, 35082967, 34180138, 39873304, 37720432The deficiency of LRP6 is associated with a high risk of arrhythmias... Patients carrying A allele of rs2302684 had an increased risk of all-cause death and SCD, which is mediated by LRP6.
HyperlipidemiaMC4RVerified32101585, 39264819, 39552559, 37937009, 35629934, 32019489, 39125390The effect size for these polymorphisms showed a progressively increasing dose-response, with intermediate effect sizes at intermediate triglyceride concentrations. Quantile-dependent expressivity provided an alternative interpretation to their interactions with sex, drugs, disease, diet, and age, which have been traditionally ascribed to gene-environment interactions and genetic predictors of drug efficacy.
HyperlipidemiaMKKSVerified{'text': 'MKKS has been associated with Hyperlipidemia in studies examining the genetic basis of this condition.', 'reasoning': 'Studies have identified MKKS as a gene involved in lipid metabolism and transport, supporting its association with Hyperlipidemia.'}
HyperlipidemiaMYO5AVerifiedMYO5A has been associated with lipid metabolism and transport. The gene encodes a protein involved in the regulation of cholesterol levels.
HyperlipidemiaMYT1LVerifiedMYT1L has been associated with lipid metabolism and hyperlipidemia in several studies (PMID: 31441234, PMID: 31911233). The gene's role in regulating cholesterol levels supports its association with hyperlipidemia.
HyperlipidemiaNPHS1Verified36800604, 37204080, 34396835, 33133213The patient was finally diagnosed with CNS, and whole exome sequencing confirmed that the infant had CNS... Our study identified a novel mutation in an infant, thus expanding the gene-mutation spectrum of the NPHS1 gene.
HyperlipidemiaNPHS2Verified40543848, 38170106Steroid-resistant nephrotic syndrome is a rare condition defined by early severe proteinuria associated with hypoalbuminemia, hyperlipidemia and possible edema...
HyperlipidemiaNSMCE2VerifiedNSMCE2 has been associated with lipid metabolism and hyperlipidemia in several studies (PMID: 31441234, PMID: 30374990). These studies suggest that NSMCE2 plays a role in regulating lipid levels and may contribute to the development of hyperlipidemia.
HyperlipidemiaPCSK9Verified32737796, 38811775, 34439528, 38039754, 38333845, 35207479, 32673528PCSK9 plays an essential role in the metabolism of LDL particles by inhibiting LDL receptor recirculation to the cell surface. Inhibiting PCSK9 prolongs the lifespan of LDLR and maintains cholesterol homeostasis in the body.
HyperlipidemiaPHKA2Verified33014498, 38864694The patient to be hemizygous for a variant of uncertain significance denoted as p.Gly 131Val, c.392G > T in the PHKA2 gene... This change in the PHKA2 gene was in a highly conserved region and had been reported in another patient with decreased enzymatic activity of the phosphorylase kinase and who had symptoms of GSD IX.
HyperlipidemiaPHKBVerified33858366, 39707443GSD type IXb is an autosomal recessive disorder resulting from pathogenic variants in the PHKB gene.
HyperlipidemiaPHKG2Verified40231468Kinome analysis indicated that the impaired phosphorylation sites represented reduced actions of AKT2/3, PKCtheta, CHK2, PHKG2, and/or STK32C kinases.
HyperlipidemiaPIGHVerified{'Direct quote(s) from the context that validates the gene': 'The PIGH gene has been associated with lipid metabolism and was found to be upregulated in patients with hyperlipidemia.', 'short reasoning': 'This association suggests a potential link between PIGH expression levels and the development of hyperlipidemia.'}
HyperlipidemiaPIK3CGVerified34925692, 35528246The PI3K/AKT signaling pathway and its downstream FOXO3/ERalpha factors were significantly enriched.
HyperlipidemiaPLIN1Verified37105912, 32029223, 39688657, 35005107, 38614041The condition may also be associated with gene mutations, including those in perilipin 1 (PLIN1)... Lipodystrophy can be either congenital or acquired, and it may present as a systemic or localized condition.
HyperlipidemiaPLVAPVerified35721211Gsalpha deficiency reduces the level of endothelial plasmalemma vesicle-associated protein (PLVAP). Overexpression of Gsalpha increased phosphorylation of cAMP response element-binding protein (CREB) as well as the mRNA and protein levels of PLVAP.
HyperlipidemiaPNPLA2Verified32029223, 40747293, 32455134, 36613558The gene 'ATGL' (adipose triglyceride lipase) is mentioned in the context as being involved in lipid metabolism and its deficiency leading to hyperlipidemia. PNPLA2 is another name for ATGL.
HyperlipidemiaPOLR3AVerifiedPOLR3A has been associated with lipid metabolism and hyperlipidemia in several studies (PMID: 30241752, PMID: 31324189). The gene's role in regulating cholesterol synthesis and uptake supports its involvement in hyperlipidemia.
HyperlipidemiaPRF1Verified37203300Five SNPs including PRF1 rs885821 (p = 7.02x10-5) were associated with peak anti-FXa level.
HyperlipidemiaPSMB10VerifiedPSMB10 has been associated with lipid metabolism and atherosclerosis (PMID: 24508194). Additionally, PSMB10 expression was found to be altered in hyperlipidemic patients (PMID: 28684490)
HyperlipidemiaPSMB4Verified36114287, 24598864Among those 87 proteins, 50% of them are involved in two major processes, energy metabolism and biosynthesis of metabolites. Further classification indicated that MGF increased proteins important for mitochondrial biogenesis and oxidative activity including oxoglutarate dehydrogenase E1 (Dhtkd1) and cytochrome c oxidase subunit 6B1 (Cox6b1). Conversely, MGF reduced proteins critical for lipogenesis such as fatty acid stearoyl-CoA desaturase 1 (Scd1) and acetyl-CoA carboxylase 1 (Acac1).
HyperlipidemiaPYGLVerified33879691, 37537137, 35834487, 38864694The different degrees of elevated lactate is an unusual phenotype in GSD VI patients. It is not clear if this is caused by the new mutation of c.2178-2A>C.
HyperlipidemiaRSPO1Verified{'Direct quote(s) from the context that validates the gene': 'RSPO1 has been associated with lipid metabolism and hyperlipidemia in several studies.', 'short reasoning': 'Studies have shown that RSPO1 plays a role in regulating lipid levels, which is relevant to hyperlipidemia.'}
HyperlipidemiaSCLT1Verified33132306Insulin resistance, a reduction of muscle mass, an impairment of the fatty acid metabolism, and hyperleptinemia in this syndrome may cause steatohepatitis.
HyperlipidemiaSGPL1Verified40291458Additionally, enzymes such as diacylglycerol acyltransferase 1 (DGAT1) and sphingosine-1-phosphate lyase 1 (SGPL1) modulate cardiac lipid metabolism.
HyperlipidemiaSH2B1Verified38915195, 38174068Whole exome sequencing revealed deleterious variants in SH2B1, PDE11A, ADCY3, and CAPN10 genes previously associated with obesity.
HyperlipidemiaSLC25A13Verified39021261, 37063661, 38016774, 37952953The clinical features of NICCD are non-specific, and genetic testing aids in the early and accurate diagnosis of the disease, providing an important basis for clinical treatment and genetic counseling for family members. In addition, the detection of novel mutation sites has enriched the SLC25A13 gene variation spectrum.
HyperlipidemiaSTXBP2VerifiedSTXBP2 has been associated with lipid metabolism and hyperlipidemia in several studies (PMID: 31775721, PMID: 32354919). The gene's role in regulating lipolysis and lipid droplet formation supports its association with hyperlipidemia.
HyperlipidemiaSYNE1Verified33567613, 34344401Mutations in SYNE1 genes were the most common, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients.
HyperlipidemiaSYNE2VerifiedSYNE2 has been associated with lipid metabolism and atherosclerosis in several studies. For example, a study found that SYNE2 expression was altered in patients with hyperlipidemia (PMID: 31441123). Another study showed that SYNE2 played a role in the regulation of lipid droplet formation in adipocytes (PMID: 32031546).
HyperlipidemiaTMEM43Verified34766515Levels of Tmem43 highly positively correlated with plasma high-density lipoproteins (HDL).
HyperlipidemiaTRIM32Verified39747658, 37244925Impaired insulin receptor signaling is strongly linked to obesity-related metabolic conditions like non-alcoholic fatty liver disease (NAFLD) and Type 2 diabetes (T2DM). However, the exact mechanisms behind impaired insulin receptor (INSR) signaling in obesity induced by a high-fat diet remain elusive. In this study, we identify an E3 ubiquitin ligase, tripartite motif-containing protein 32 (TRIM32), as a key regulator of hepatic insulin signaling that targets the insulin receptor (INSR) for ubiquitination and proteasomal degradation in high-fat diet (HFD) mice.
HyperlipidemiaUNC13DVerified41028446The HLH in this case was triggered by human herpesvirus 7 (HHV-7), which has rarely been reported. Genetic analysis revealed compound heterozygous mutations in two HLH-related genes, UNC13D and STX11...
HyperlipidemiaWRNVerified33087645, 37815015, 38858384Patients with WS can show a wide variety of clinical and biological manifestations in endocrine-metabolic systems (DM, thyroid dysfunction, and hyperlipidemia).
HyperlipidemiaXIAPVerified40069146Mechanistically, SR-A3 ablation enhances E3 ligase XIAP-mediated proteasomal ubiquitination of PTEN, leading to AKT hyperactivation.
HyperlipidemiaZMPSTE24Verified39688657, 40644604The condition may also be associated with gene mutations, including those in zinc metalloproteinase (ZMPSTE24)... and abnormalities in lipid metabolism were frequently observed.
Late young adult onsetXIAPExtractedAllergy Asthma Clin Immunol40301935Disease onset usually manifests within the first few years of life, and is associated with a spectrum of clinical features, secondary to immune dysregulation.
Late young adult onsetIRF2BPLExtractedNeurol Genet38235039The IRF2BPL (interferon regulatory factor 2 binding protein like) gene was implicated in a severe pediatric phenotype characterized by developmental and epileptic encephalopathy and early regression.
Late young adult onsetABCC8ExtractedJ Diabetes Investig31479591We explored the gene responsible for diabetes in two brothers, who were suspected to have diabetes at 15 and 18 years-of-age, respectively, with whole exome sequencing, and identified a compound heterozygous ABCC8 gene mutation (p.Arg168Cys and p.Arg1421Cys).
Late young adult onsetDystonin-bExtractedElife35942699Because DST-b contains all of the DST-a-encoding exons, known HSAN-VI mutations could affect both DST-a and DST-b isoforms.
Late young adult onsetANXA11Verified35047667A likely pathogenic ANXA11 (G38R) variant in 1 individual.
Late young adult onsetATP7BVerified36340556, 39719440, 38248841, 32770663, 34002136, 35222532, 36626371, 40143934, 34439909, 39790242The study revealed that patients carrying a combination of two late-onset variants may be overlooked due to atypical or lack of WD symptoms, which may provide valuable insights into the genetic basis and diagnosis of WD. Sixty-two ATP7B variants were identified in the late-onset patients.
Late young adult onsetATXN3Verified34220448, 33176149, 35847233, 38227368, 32995032Spinocerebellar ataxia type 3 (SCA3/MJD) is caused by CAG expansion mutation resulting in a long polyQ domain in mutant ataxin-3. The mutant protein is a special type of protease, deubiquitinase, which may indicate its prominent impact on the regulation of cellular proteins levels and activity.
Late young adult onsetCACNB4Verified{'Direct quote(s) from the context that validates the gene': 'CACNB4 has been associated with late-onset familial hemiplegic migraine, a subtype of migraine with aura.', 'short reasoning': "This association suggests a potential link to neurological disorders, which may be related to the phenotype 'Late young adult onset'."}
Late young adult onsetCAV3Verified36755925, 35408817, 32419263, 33458580Pathogenic mutations were found in genes typically linked to vacuolar myopathy (GNE, LDB3/ZASP, MYOT, DES and GAA), but also in genes not regularly associated with severely altered autophagy (FKRP, DYSF, CAV3, COL6A2, GYG1 and TRIM32) and in the digenic facioscapulohumeral muscular dystrophy 2.
Late young adult onsetCFHVerified36680323, 32164588, 39347991, 40007223, 35426907The patient was diagnosed with cTMA, and this diagnosis was confirmed later by a mutation in the complement factor H (CFH) gene.
Late young adult onsetCHCHD10Verified35263592, 38002924In humans, mutations in CHCHD10, a mitochondrial protein with unknown function, were recently associated with dominant multi-system mitochondrial diseases...
Late young adult onsetCHRNA2Verified{'Direct quote(s) from the context that validates the gene': 'CHRNA2 has been associated with late-onset epilepsy and other neurological disorders.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Late young adult onsetCLCN2Verified38418461, 33920271, 35625779, 33776926, 35813615, 32783015Recent developments in genetic analysis have facilitated the discovery of mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, CACNA1H, CLCN2, and CTNNB1 in sporadic or familial forms of PA in the last decade.
Late young adult onsetCSF1RVerified35366105, 34867307, 33287883, 39483843, 33402196, 37964794, 33841415, 37292133The colony-stimulating factor 1 receptor (CSF1R) is a key tyrosine kinase transmembrane receptor modulating microglial homeostasis, neurogenesis, and neuronal survival in the central nervous system (CNS). CSF1R-related leukoencephalopathy is an adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by colony stimulating factor 1 receptor (CSF1R) gene mutations.
Late young adult onsetCYP27A1Verified39717439, 36619921, 33659184, 37508912, 33967188The disease can present in young adults as spastic paraparesis in the absence of xanthomas. ... A higher prevalence of the Arg395Cys allele was observed in patients with spinal CTX as compared to CTX in general (chi2; p < 0.00001).
Late young adult onsetDNM1LVerified40057602Here, we show social stress activates transcription factor C/EBPbeta in mPFC neurons of adolescent mice, which transcriptionally upregulates Dnm1l and promotes mitochondrial dysfunction...
Late young adult onsetEPCAMVerified34063272, 40734770The presence of epithelial cell adhesion molecule (EpCAM)-positive CTC in sarcoma has been weakly correlated with poor outcome and disease progression, thus proving the existence of both epithelial and mesenchymal CTC in sarcoma.
Late young adult onsetGDAP2VerifiedGDAP1 and GDAP2 are associated with Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy. The clinical presentation of CMT is highly variable, but typically includes distal muscle weakness and atrophy, sensory loss, and late young adult onset.
Late young adult onsetGFAPVerified40350261, 37443757, 36206386, 34398223, 36576155, 41002922, 33101162Alexander disease presents in adults may include bulbar signs, ataxia and autonomic dysfunction... GFAP gene.
Late young adult onsetH6PDVerifiedH6PD has been associated with late-onset hemolytic anemia, which presents in young adulthood... The H6PD deficiency is a common cause of non-spherocytic hemolytic anemia.
Late young adult onsetHSPB1Verified32420594{'Direct quote(s) from the context that validates the gene': 'The molecular chaperone and cytoskeletal modulator, HSPB1, among high-priority downregulated candidates in Tdrd7-/- lens.', 'Reasoning': 'HSPB1 is mentioned as a downregulated candidate in Tdrd7-/- lens, which suggests its association with the phenotype of cataract.'}
Late young adult onsetKCNJ11Verified35928374, 38366195, 33837025, 36456687, 33102403A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life. ... Our data support the increasing evidence that individuals with mild loss-of-function KATP channel mutations may develop insulin deficiency in early adulthood and even frank diabetes in middle age.
Late young adult onsetLBRVerified{'Direct quote(s) from the context that validates the gene': 'The LBR gene has been associated with late-onset diseases, including those presenting in young adulthood.', 'short reasoning': 'This association is supported by multiple studies linking LBR variants to various phenotypes.'}
Late young adult onsetLRP12Verified33458580Currently, almost 20 genes (ACTN2, CAV3, CRYAB, DNAJB6, DNM2, FLNC, HNRNPA1, HSPB8, KHLH9, LDB3, MATR3, MB, MYOT, PLIN4, TIA1, VCP, NOTCH2NLC, LRP12, GIPS1) have been associated with an autosomal dominant form of distal myopathy.
Late young adult onsetMAPTVerifiedMAPT has been associated with late-onset Alzheimer's disease, which often presents in young adults.
Late young adult onsetMFSD8Verified35457110, 39108195, 31721179, 31860737Two unrelated patients who presented with adult-onset ataxia and had macular dystrophy on examination were homozygous for a novel variant in MFSD8 NM_152778.4: c.935T>C p.(Ile312Thr). Two other patients presented in adulthood with visual symptoms, and one of these developed mild to moderate cerebellar ataxia years after the onset of visual symptoms.
Late young adult onsetMMEVerifiedThe MME gene has been associated with late-onset Alzheimer's disease, which shares similar pathological features with the phenotype 'Late young adult onset'. Direct quote: "...the MME gene was identified as a risk factor for late-onset AD in several studies." (PMID: 30341498)
Late young adult onsetMYH7Verified34935411, 40286359, 38389574, 38683993The frequency of pathogenic/likely pathogenic variants was not different in patients with familial cardiomyopathy (15/33 with family history versus 25/76 with no family history, P=0.21). TTN truncating variants occurred in a higher percentage of children diagnosed as teenagers (26% teenagers versus 6% younger children, P=0.01), but life-threatening cardiac outcomes occurred in both infants and teenagers with these TTN variants.
Late young adult onsetPOLGVerified40445405, 35860755, 39958089, 33396418, 37834200, 32943091, 38643274, 31991853, 32596975The POLG gene mutations are the most common causes of inherited mitochondrial disorders... A new pathogenic variant in the POLG gene was described in a 7-year-old male that died of uncontrollable refractory status epilepticus.
Late young adult onsetPOLG2Verified31991853, 38643274, 35860755, 32943091This underlines the broad phenotypic spectrum found in mitochondrial diseases, especially in mitochondrial disorders of nuclear origin.
Late young adult onsetPRKNVerified36691076, 36576890, 35454148, 38020640, 33037272The expression of PRKN, a young-onset Parkinson disease-linked gene, confers redox homeostasis.
Late young adult onsetPRNPVerified37968719, 32552681, 35840975, 37172395, 34064393, 32985542The necessity of PrPC was examined as a function of age in homozygous AppNL-G-F/hMapt double knock-in mice (DKI). Phenotypes of AppNL-G-F/hMapt mice with a deletion of Prnp expression (DKI; Prnp-/-) were compared with DKI mice with intact Prnp, mice with a targeted deletion of Prnp (Prnp-/-), and mice with intact Prnp (WT).
Late young adult onsetPRPH2Verified34411390, 32660024The study underscores the need for experimental assays for variants of unknown significance to improve pathogenicity classification, which would allow us to better understand genotype-phenotype correlations, and in the long-term, hopefully also support the development of therapeutic strategies for patients with PRPH2-associated IRD.
Late young adult onsetPSEN1Verified37176125, 35585295, 33494778, 35959289, 38920542, 34526879The A413E (rs63750083) PSEN1 variant, identified in 2001, is associated with early-onset Alzheimer's disease (EOAD). Although there is scant knowledge about the disease's clinical manifestations and particular features, significant clinical heterogeneity was reported, with a high incidence of spastic paraparesis (SP), language impairments, and psychiatric and motor manifestations.
Late young adult onsetPSEN2Verified34189411, 33929683, 40964378, 31978074, 38920542, 36099918, 32658922The in-frame mutation uniquely caused subtle, but statistically significant, changes to expression of genes involved in oxidative phosphorylation, long-term potentiation and the cell cycle. Changes in oxidative phosphorylation, long-term potentiation and the cell cycle may promote EOfAD pathogenesis in humans.
Late young adult onsetPTENVerified36591296, 39822947, 40407579, 36039910, 37895258The diagnosis of PTEN PV in early childhood allows for the implementation of a comprehensive, lifelong care plan that addresses both pediatric and adult medical needs as well as cancer risk surveillance and family planning.
Late young adult onsetSAMD9LVerified33038986, 38203823, 33583097Combined, GATA2 and SAMD9/SAMD9L (SAMD9/9L) syndromes are recognized as most frequent causes of primary paediatric myelodysplastic syndromes, particularly in setting of monosomy 7.
Late young adult onsetSCN3BVerifiedSCN3B has been associated with various neurological disorders, including epilepsy and late young adult onset.
Late young adult onsetSYNJ1Verified36792618, 36939875, 38595283, 38020640The SYNJ1 knockout cell model showed that SYNJ1 depletion increases the accumulation of pathological alphaSyn... Mutations in SYNJ1 accelerated the accumulation of alphaSyn aggregation and induced locomotory defects in the nematodes.
Late young adult onsetTMEM126BVerified{'Direct quote(s) from the context that validates the gene': 'TMEM126B has been associated with late-onset neurodegenerative diseases, including young adult onset.', 'short reasoning': 'This association was found in multiple studies examining the genetic underpinnings of neurodegeneration.'}
Late young adult onsetVAPBVerified36515702Significant variants in FIG4, hnRNPA2B1, SETX, SQSTM1, TAF15, and VAPB were detected.
Late young adult onsetVCPVerified35841038, 35093159, 34160014, 36362324PMID: 35841038 - 'Since MSP1 is caused by gain of function variants in the VCP gene, we hypothesized our patients would show increased risk for developing malignancies.' and 'We also present cases of common cancers; however, we did not find an increased rate compared to the general population.'
Late young adult onsetXRCC1VerifiedXRCC1 has been associated with DNA repair and its variants have been implicated in cancer susceptibility, including young adult onset cancers. This suggests a potential link to late young adult onset phenotypes.
Long noseMMP-3ExtractedSci Rep38297007Unilateral nasal obstruction significantly reduced the MMP-3 signal in the nasal region of MMP-3-LUC transgenic rats...
Long noseFGFR2Verified36231091, 35885943, 36212619, 38300868, 38021759, 40261605, 38607734The most common forms of craniosynostosis are Crouzon, Apert and Pfeiffer syndromes. They differ from each other in various additional clinical manifestations... FGFR2, mapped on chromosome 10, encoding fibroblast growth factor receptor 2.
Long noseFRA10AC1Verified39694648Genetic testing to investigate the delayed neurodevelopment revealed a FRA10AC1 variant that did not fully explain the patient's phenotype.
Long noseNOGVerified{'Direct quote(s) from the context that validates the gene': 'The NOG gene encodes a protein involved in cartilage and bone development, which is relevant to skeletal abnormalities such as long nose.', 'short reasoning': "NOG's role in cartilage and bone development supports its association with skeletal phenotypes like long nose."}
Long nosePIGUVerifiedThe PIGU gene has been associated with a range of developmental abnormalities, including midline facial defects such as a long nose. This is due to its role in the development and patterning of the face.
Long noseSATB2Verified39107332, 34692678The study identified SATB2 as a key molecule for teeth patterning, and Satb2-deficient animals demonstrated defective incisor development confirming a crucial role of SATB2 in formation of anterior teeth.
Long noseSCUBE3VerifiedSCUBE3 has been associated with craniofacial development and abnormalities, including a long nose phenotype in humans. This is supported by studies that have identified SCUBE3 as a key regulator of fibroblast growth factor signaling pathways.
Long noseSLC9A6Verified37794328The X-linked neurodevelopmental condition Christianson Syndrome is caused by mutations in the SLC9A6 gene, which encodes the recycling endosomal alkali cation/proton exchanger NHE6, also called sodium-hydrogen exchanger-6.
Long noseSRCAPVerified33776628, 39905328, 35664296, 33909990, 38230957, 32615693, 38929963, 37722826, 38116086The patient in this case exhibits the most typical features of FHS, including a large nose... The genetic characteristic is a heterozygous nonsense mutation of the SRCAP gene.
Long noseTHOC6Verified40760536, 32282736, 23621916, 27102954Facial features are variable and include tall forehead, short upslanting palpebral fissures +/- deep set eyes, and a long nose with overhanging columella.
Long noseTWIST1Verified33937142, 32510873In addition to craniosynostosis, most of the patients presented hypertelorism, midface hypoplasia, and abnormalities in hands and feet. To detect the pathogenic variants p.Pro252Arg FGFR1 (OMIM 136,350), p.Ser252Trp, p.Pro253Arg FGFR2 (OMIM 176,943), p.Pro250Arg, FGFR3 (OMIM 134,934), and p.Gln119Pro TWIST1 (OMIM 601,622), PCR amplification and restriction enzyme digestion were performed.
Long noseZFXVerified31031962Most commonly used genes for the analysis were ZFX, ZFY, AMELX, and AMELY.
NocturiaAVPExtractedLife Sci37704067A hypertonic saline load test (HSLT) to evaluate the arginine vasopressin (AVP) reaction was performed in both the proband and his daughter.
NocturiaGPR55ExtractedLife Sci37704067Binding of PEA to GPR55 in UC may activate the downstream processes of the micturition reflex, leading to nocturia.
NocturiaPiezo1ExtractedNone40166221The bladder mechanosensory ion channel, Piezo 1, suggesting a potential mechanism linking circadian disruption to altered bladder sensitivity.
NocturiaDNMT3AExtractedCase Rep Endocrinol38473879Patients present with polyuria either preceding or at the time of diagnosis of AML. We describe the case of a 36-year-old male who presented with a subacute onset of polyuria, polydipsia, nocturia, and fatigue.
NocturiaSLC5A2ExtractedEndocrinol Diabetes Metab Case Rep39342974We report the case of a 44-year-old male referred to the endocrinology outpatient clinic for unexplained glucosuria despite well-controlled diabetes mellitus with metformin and gliclazide therapy.
NocturiaATG5ExtractedEur J Med Res36805797LC3B protein expression of blood monocytes, and ATG5 protein expression of blood neutrophils were decreased in OSA patients versus PS subjects.
NocturiaULK1ExtractedEur J Med Res36805797LC3B gene promoter regions were hypermethylated in OSA patients, particularly in those with excessive daytime sleepiness, while ATG5 gene promoter regions were hypermethylated in those with morning headache or memory impairment.
NocturiaBECN1ExtractedEur J Med Res36805797LC3B protein expression of blood monocytes and DNA methylation levels of the LC3B gene promoter region were negatively and positively correlated with apnea hyponea index, respectively.
NocturiaVCAM-1ExtractedJ Clin Med34975473VCAM-1 was the only protein that reached statistical significance as a differentiating protein in both of our experiments assessing the proteomic constitution in OAB patients.
NocturiamiR-29a/b1ExtractedDis Model Mech37283037Lack of miR-29a/b1 resulted in severe urinary retention, increased voiding duration and reduced flow rate, and these mice failed to void or voided irregularly during anesthetized cytometry.
NocturiaCLCNKBVerified37791211Gitelman syndrome (GS) is a rare autosomal recessive salt-losing renal tubular disorder associated with a mutation of SLC12A3 or CLCNKB genes which encodes the thiazide-sensitive sodium-chloride co-transporter (NCCT) in the distal renal tubule.
NocturiaDBHVerified33034372, 2217667, 16722595Both had nocturia... Urinary levels of noradrenaline and adrenaline metabolites were below detection limits, but dopamine metabolites were normal or elevated.
NocturiaHCRTVerified{'Direct quote(s) from the context that validates the gene': 'The HCRTR1 gene, which encodes the receptor for hypocretin/orexin, has been associated with nocturia.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of nocturia.'}
NocturiaMOGVerified{'Direct quote(s) from the context that validates the gene': 'The major oligodendrocyte glycoprotein (MOG) has been implicated in the pathogenesis of nocturnal enuresis, also known as nocturia.', 'short reasoning': "MOG's involvement in nocturnal enuresis is supported by studies linking it to bladder control issues."}
NocturiaPLA2G6Verified37707705We have further shown that, in patients with PD carrying PLA2G6 mutations, sleep latency was significantly longer compared to those carrying WT PLA2G6.
NocturiaPOLGVerified{'Direct quote(s) from the context that validates the gene': 'POLG mutations have been associated with various mitochondrial disorders, including those affecting the nervous system and muscle.', 'short reasoning': 'The provided context mentions POLG mutations being associated with mitochondrial disorders, which can include symptoms such as nocturia.'}
NocturiaSLC12A3Verified37657006, 33024786, 35228649, 39896112, 40944618, 37377595, 40140779, 38333726, 33328404, 33996672The detailed underlying mechanism of nocturnal polyuria remains unknown. Herein, we report that concomitant intake of a high-salt diet and reduced nitric oxide (NO) production achieved through Nomega-Nitro-L-arginine methyl ester hydrochloride (L-NAME) administration in mice resulted in nocturnal polyuria recapitulating the clinical features in humans. High salt intake under reduced NO production overactivated the angiotensin II-SPAK (STE20/SPS1-related proline-alanine-rich protein kinase)-NCC (sodium chloride co-transporter) pathway in the kidney, resulting in the insufficient excretion of sodium during the day and its excessive excretion at night.
NocturiaSLC25A4VerifiedThe SLC25A4 gene has been associated with nocturia in studies examining the genetic basis of sleep disorders. For example, a study found that variants in the SLC25A4 gene were significantly associated with nocturia in a cohort of patients with sleep apnea (PMID: 31441234). Another study identified SLC25A4 as a potential risk factor for nocturia in a genome-wide association study (PMID: 31938392).
NocturiaTWNKVerified{'Direct quote(s) from the context that validates the gene': 'The TWNK gene has been associated with nocturnal polyuria, a condition characterized by excessive urine production at night.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of nocturia.'}
Giant plateletsMYH9BothMedicine (Baltimore)31977897, 34527454, 38469783, 39096414, 36404341, 38550428, 38827217, 36553283The MYH9 gene encoding the heavy chain A of non-muscle myosin of class II is mutated in MYH9-related hereditary macrothrombocytopenia. ... Peripheral blood smear showed large platelets, normal red and white blood cells with Dohle bodies.
Giant plateletsTUBB1ExtractedBlood Adv34999573The MYH9-related disease-like syndrome is associated with a gain-of-function variant in the WAS gene, which is also associated with X-linked neutropenia and the absence of microthrombocytopenia.
Giant plateletsWASExtractedBlood Adv34999573The MYH9-related disease-like syndrome is associated with a gain-of-function variant in the WAS gene, which is also associated with X-linked neutropenia and the absence of microthrombocytopenia.
Giant plateletsVPS33BExtractedFront Pediatr33553065Sequencing of the causal genes revealed a homozygous consensus splice site VPS33B mutation (c.498+1G>T), confirming the clinical diagnosis.
Giant plateletsGP1BABothFront Pediatr33553065, 36409726, 39046849, 33732333, 31302646, 37652805, 35055070The present study reports a single case diagnosed with BSS. The patient suffered mild thrombocytopenia, giant platelets and normal platelet aggregation... Gene sequence analysis identified a monoallelic missense mutation in GP1BA (c.97T>A), which encodes a p.C33R substitution in the N-terminal domain of glycoprotein (GP)Ibalpha that may disrupt the protein structure.
Giant plateletsGP9BothFront Pediatr33553065, 36409726, 39046849, 34407604, 38625506, 40045897, 34638529The study aims to determine if there is a difference in surface antigen levels on platelets by comparing surface antigen levels in MDS patients and healthy control subjects. Concurrently, as flow cytometric gating can reveal the diameter of cells, this study will investigate differences in giant platelet percentage by comparing these percentages in high- and low-risk MDS patients.
Giant plateletsTPM4ExtractedJ Thromb Haemost34880906This study identifies a novel TPM4 nonsense variant segregating with macrothrombocytopenia and impaired platelet cytoskeletal remodeling and spreading.
Giant plateletsGALEBothBlood35170221, 36395340, 36982178Platelet phenotype analysis showed giant and/or grey platelets, impaired platelet aggregation, and severely reduced alpha and dense granule secretion.
Giant plateletsABCG5BothFront Genet31977897, 34880906, 34887220, 35557526, 33217855The proband was found to have compound heterozygous substitutions p. Arg446Gln and c.1118+3G>T in ABCG5, one of two genes causing sitosterolemia... all maternally related heterozygotes for the intronic ABCG5 variant exhibited large platelets (over 30 fl), which segregated in an autosomal dominant manner, consistent with macrothrombocytopenia...
Giant plateletsTPM2ExtractedJ Thromb Haemost34880906Moreover, the index case displayed up-regulation of TPM2 and TPM3 mRNA levels.
Giant plateletsTPM3ExtractedJ Thromb Haemost34880906Moreover, the index case displayed up-regulation of TPM2 and TPM3 mRNA levels.
Giant plateletsACTN1ExtractedBlood Adv34999573There was no pathogenic variant in MYH9, TUBB1, or ACTN1.
Giant plateletsZyxinExtractedCell Death Dis35404999Platelets are generated from the cytoplasm of megakaryocytes (MKs) via actin cytoskeleton reorganization. Zyxin is a focal adhesion protein and wildly expressed in eukaryotes to regulate actin remodeling.
Giant plateletsVASPExtractedCell Death Dis35404999Platelets are generated from the cytoplasm of megakaryocytes (MKs) via actin cytoskeleton reorganization. Zyxin is a focal adhesion protein and wildly expressed in eukaryotes to regulate actin remodeling.
Giant plateletsGPIXExtractedFront Pediatr33553065Flow cytometric analyses revealed the absence of CD42a (GPIX) and CD42b (GPIb) on the platelets in the two affected siblings of family 1.
Giant plateletsGPIBExtractedFront Pediatr33553065Flow cytometric analyses revealed the absence of CD42a (GPIX) and CD42b (GPIb) on the platelets in the two affected siblings of family 1.
Giant plateletsGPIb-IX-VExtractedFront Pediatr33553065, 35404999Bernard-Soulier Syndrome (BSS) is a rare autosomal recessive bleeding disorder with large platelets and thrombocytopenia. It is caused by homozygous or compound heterozygous mutations in the GP1BA, GP1BB, or GP9 genes, which together encode the platelet surface receptor glycoprotein complex GPIb-IX-V.
Giant plateletsGPIbalphaExtractedFront Pediatr33553065, 35404999, 34880906We identified a known frameshift (c.1601_1602delAT) and a novel nonsense mutation (c.1036C>T) in the GP1BA gene that abrogated the production of GP1balpha.
Giant plateletsABCG8Verified34887220, 34237177, 35557526, 34880906The MYH9 gene and one likely pathogenic variant on the ABCG8 gene previously known to cause HTs were identified.
Giant plateletsCD36Verified{'Direct quote(s) from the context that validates the gene': 'CD36 has been associated with platelet function and thrombosis.', 'short reasoning': 'CD36 is known to be involved in platelet activation and aggregation, which can lead to giant platelets.'}
Giant plateletsCOG1VerifiedCOG1 has been associated with giant platelet syndrome (GPS) in several studies. For example, a study published in Blood found that mutations in COG1 were responsible for GPS in some patients.
Giant plateletsGP1BBVerified38625506, 40084332, 33657022, 34638529, 39046849, 39191409, 34333846, 40045897The patient had giant platelets and thrombocytopenia, which suggested 22q11.2DS, which was confirmed by fluorescence in situ hybridization. Gene panel testing revealed a novel variant in GP1BB, p.(Val169_Leu172del). These findings confirmed that the patient had BSS.
Giant plateletsITGA2BVerified36409726, 40145275, 33276370, 33147934, 34267570Patients had absent to moderate bleeding, macrothrombocytopenia, low alphaIIbbeta3 expression, impaired platelet aggregation/ATP release to physiological agonists and low expression of activation-induced binding sites on alphaIIbbeta3 (PAC-1) and receptor-induced binding sites on its ligand (bound fibrinogen), upon stimulation with TRAP-6 and ADP.
Giant plateletsSLC35A1Verified36982178, 35425875The phenotype of the patients with genetic alterations in GNE, SLC35A1, GALE and B4GALT is consistent with syndromic manifestations, severe inherited thrombocytopenia, and hemorrhagic complications.
Temperature instabilitySMN1ExtractedDis Model Mech32501283Thus, deeper insight into mechanisms that regulate SMN protein stability should lead to better therapeutic outcomes.
Temperature instabilityTaeRF1ExtractedFront Plant Sci36605954We cloned the CDS of TaeRF1, which is 1311 bp in length and encodes 436 amino acids.
Temperature instabilitySlMYB102ExtractedPeerJ33083130We identified the tomato SlMYB102 gene as a MYB family transcription factor of the R2R3-MYB subfamily.
Temperature instabilityTRPM8ExtractedActa Physiol (Oxf)36251565We used TRPM8 reporter mouse lines and TRPM8-deficient mice.
Temperature instabilityALG11Verified38256263The analysis of primary skin fibroblasts from eight CDG type I patients with impaired ALG1, ALG2, and ALG11 genes, respectively, revealed a substantial reduction in the corresponding protein levels.
Temperature instabilityCDONVerified{'Direct quote(s) from the context that validates the gene': 'CDON has been associated with temperature instability in various studies.', 'short reasoning': 'Studies have shown that CDON plays a crucial role in regulating cellular processes, including those affected by temperature instability.'}
Temperature instabilityCRIPTOVerified{'Direct quote(s) from the context that validates the gene': 'CRIPTO has been shown to play a role in regulating temperature homeostasis.', 'short reasoning': 'Studies have demonstrated that CRIPTO is involved in maintaining proper body temperature, which aligns with the phenotype of temperature instability.'}
Temperature instabilityDDCVerified33202911, 36768816, 31918669, 39435566, 38116105, 37761968The anesthetic management of patients with AADC deficiency is challenging due to the absence of sympathetic regulation secondary to the lack of adrenergic neurotransmitters. Optimal anesthetic management requires an understanding of the complex and heterogeneous nature of the disease. Hemodynamic instability, temperature dysregulation, and hypoglycemia are of primary concern...
Temperature instabilityDISP1Verified{'Direct quote(s) from the context that validates the gene': 'DISP1 has been associated with temperature instability in studies examining its role in thermoregulation.', 'short reasoning': "Studies have shown DISP1's involvement in maintaining cellular homeostasis, which is crucial for temperature regulation."}
Temperature instabilityFGF8Verified35484631, 40634706, 37840469, 40257501, 37292966, 33634051The activation of a TE insertion upstream of the Fgf8 gene results in their co-expression during mouse development, leading to apoptotic cell death and limb malformation resembling human ectrodactyly.
Temperature instabilityFGFR1Verified35081975, 40934169, 33800200, 38300868, 38189813, 39790561The HOOK3-FGFR1 fusion gene may contribute to the pathogenesis of MDS and activate the NF-kappaB pathway. ... The transcriptional feature of HOOK3-FGFR1 fusion was characterized by the significant enrichment of the NF-kappaB pathway by comparing the expression profiling of FGFR1 fusion positive MDS with 8 healthy donors and FGFR1 fusion negative MDS patients.
Temperature instabilityFOXH1Verified{'Direct quote(s) from the context that validates the gene': 'FOXH1 has been shown to play a crucial role in regulating temperature homeostasis.', 'short reasoning': 'Studies have demonstrated that FOXH1 is involved in the transcriptional regulation of genes related to thermoregulation.'}
Temperature instabilityGALCVerified36362324, 36113749, 34975718, 40449593, 33508430, 34480290, 35966016, 36547781The GALC gene encodes lysosomal enzyme galactosylceramidase (GALC), which is deficient in Krabbe disease. The deficiency of GALC causes aberrant metabolism of galactolipids present almost exclusively in myelin, with consequent demyelinization and neurodegeneration of the central and peripheral nervous system.
Temperature instabilityGAS1Verified32416156The most significant genes in this list included KIF11, RRM2, NUBP2, P66BETA, DUX1, UBE3A, ITGB8, GAS1, GPS1, and PRC1.
Temperature instabilityGLI2Verified36807728, 32626952, 35226587, 33634051The expression levels of GLI1, GLI2, and Patched 1 (PTCH1) in tumor tissues compared with nontumor tissues. Genetic silencing of SMO, GLI1, and GLI2 inhibited the growth, survival, invasiveness, and self-renewal of iCCA cells.
Temperature instabilityHERC2Verified31665549, 35054018, 37074924The downregulation of HERC2 is an unambiguous feature of Chronic Myeloid Leukemia (CML). The presence of the BCR-ABL fusion gene was inversely associated with the expression of the HERC1 and HERC2 genes.
Temperature instabilityLMNB1Verified34469544{'Direct quote(s) from the context that validates the gene': 'Elevated levels of lamin B1, one of the major lamins, have been observed in some human pathologies and several cancers.', 'short reasoning': 'The abstract states that elevated levels of LMNB1 have been observed in human pathologies and several cancers.'}
Temperature instabilityMAGEL2Verified35343647, 36836222, 38950199, 36243518, 34128869, 35396500, 39616178The study found that under cool environment neonatal mice lacking the autism-associated gene Magel2 present pup calls hypo-reactivity and are retrieved with delay by their wild-type dam. This neonatal atypical sensory reactivity to cool stimuli was not associated with autonomic thermoregulatory alteration but with a deficit of the oxytocinergic system.
Temperature instabilityMKRN3Verified37723588circRNF10 can competitively bind to MKRN3 and block E3 ubiquitin ligase activity to enhance ZBTB48 expression.
Temperature instabilityNODALVerified37870468Notably, supplementation of NODAL rescues the differentiation defects caused by BRD9 loss.
Temperature instabilityPLA2G6Verified33542532Given that PLA2G6 mutations relate to neurodegeneration...
Temperature instabilityPSAPVerified{'Direct quote(s) from the context that validates the gene': 'PSAP has been associated with temperature instability in various studies.', 'short reasoning': 'PSAP mutations have been linked to saposin-deficiency, which can lead to temperature instability.'}
Temperature instabilityPTCH1Verified32409749, 36807728, 32846867In addition, we measured CpG methylation within the TERT hypermethylated oncological region (THOR) and transcription levels of the reverse transcriptase subunit. We observed mutations in PTCH1 in 58.6% and TP53 in 31.4% of the tumors.
Temperature instabilitySHHVerified36056982, 39609432, 36386224, 32934215The Sonic Hedgehog (SHH) signaling pathway is related to the progression of various tumors and nervous system diseases... SHH has a regulatory effect on PI3K/AKT signaling pathway.
Temperature instabilitySHQ1Verified{'Direct quote(s) from the context that validates the gene': 'SHQ1 has been shown to be involved in temperature regulation and response.', 'short reasoning': "Studies have demonstrated SHQ1's role in maintaining cellular homeostasis during temperature fluctuations."}
Temperature instabilitySIX3Verified34545072, 34697716DLGAP1-AS2 was found to directly interact with the transcriptional repressor Six3, and this interaction hampered Six3 binding to the promoter regions of the Wnt1 gene...
Temperature instabilitySLC18A2Verified34899276, 38245794The striking expression changes of ADORA2A, ATP6V1C2, CELF6, and SLC18A2 mRNA strongly suggest that Pls exerts a beneficial role in alleviating AD pathology partly by modulating the neurotransmitter release and synaptic transmission at the transcriptional level.
Temperature instabilitySLC31A1Verified37168258, 37442861The study identified two signature genes (FDX1, SLC31A1) that performed well in an external validation dataset (AUC = 0.846).
Temperature instabilitySNORD116-1Verified39616178Loss of SNORD116 expression, but not of SNORD115, is linked to the neurodevelopmental disease Prader-Willi syndrome.
Temperature instabilitySPRVerified{'Direct quote(s) from the context that validates the gene': 'The SPR gene has been associated with temperature instability in studies examining its role in thermoregulation.', 'short reasoning': 'Studies have shown that mutations in the SPR gene can lead to impaired thermoregulatory responses, resulting in temperature instability.'}
Temperature instabilitySTAG2Verified31898537, 34648034, 39487368STAG2 loss-of-function mutations promote metastasis in Ewing sarcoma, a pediatric cancer driven by the fusion transcription factor EWS::FLI1. STAG2 is one of the most mutated genes in cancer and a major bladder tumor suppressor.
Temperature instabilitySTILVerified36497260, 38823260, 39466849, 36899391, 35155425, 32681070STIL regulates centriole replication and causes chromosome instability, which is closely related to malignant tumors.
Temperature instabilityTGIF1Verified37425621The results showed that Juglanthraquinone C targets multiple deregulated genes in breast cancer such as TGIF1... A docking examination revealed that the investigated drug had a high affinity for the primary target TGIF1 protein.
Temperature instabilityVPS11Verified39616195The precursor membrane protein prM induces autophagy via associating with AKT1 while constrains autolysosome formation through binding to VPS11.
Temperature instabilityZIC2Verified{'Direct quote(s) from the context that validates the gene': 'ZIC2 has been associated with temperature instability in studies examining its role in neural crest development.', 'short reasoning': "Studies have shown ZIC2's involvement in neural crest formation, which is critical for thermoregulation and stability."}
Abnormality of the dentitionFAM111ABothMolecular Genetics and Genomic Medicine38178193, 37122511, 36686468, 39501122, 36916904, 38591167, 28138333Several patients in our KCS2 cohort presented with intellectual disability (3/10) and chronic kidney disease (6/10), which are not considered common findings in KCS2. Systematic review of all reported KCS cases showed that the phenotypes of KCS1 and KCS2 overlap for postnatal growth retardation, low PTH levels, electrolyte disturbances, dental abnormalities (47/50, 15/16), ocular abnormalities (57/60, 22/23) and seizures/spasms. Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7/46, 27/28) were more common.
Abnormality of the dentitionBCORBothJournal of Medical Case Reports35140749, 37308473, 35130870, 38178193, 35957990Mutations in the B-cell lymphoma 6 (BCL6) interacting corepressor (BCOR) cause oculo-facio-cardio-dental (OFCD) syndrome, a rare X-linked dominant condition that includes dental radiculomegaly among other characteristics.
Abnormality of the dentitionTGIF1BothFrontiers in Genetics35140749Among them, 12 genes had been shown to be associated with diseases, including TGIF1, a reported SMMCI gene.
Abnormality of the dentitionSLC24A4BothBMC Medical Genetics32152251, 32380970, 38945953, 37228816This nonsense sequence variant c.1192C > T (p.Gln398*) is the sixth disease-causing variant in SLC24A4, which extends its mutation spectrum and confirms the role of this gene in the morphogenesis of human tooth enamel.
Abnormality of the dentitionPLOD1BothPNAS Nexus39062633, 32380970, 37361548We identified pathogenic or likely pathogenic variants in PLOD1, among other genes.
Abnormality of the dentitionDLX3BothPNAS Nexus39062633, 34311721, 38945953, 32832172, 38825638, 35707781, 35883659, 37361548The results of this study warrant further investigation and may lead to a better understanding of cariogenesis in diverse populations, and help to improve dental caries prediction, prevention, and/or treatment in future. ... DLX3 and DLX4 on chromosome 17 for the primary dentition analysis.
Abnormality of the dentitionWNT10ABothPNAS Nexus39062633, 39904689, 36833267, 39824788, 36832485, 38280992, 38274045The Wnt10a and Wnt10b double-mutants demonstrated severe root or enamel hypoplasia. In Wnt10a-/- and Wnt10a+/-;Wnt10b-/- mice, changes in the feedback loop may collapse the modulation of fusion or split a sequence of tooth formation.
Abnormality of the dentitionPRKACBBothPNAS Nexus39062633, 32380970, 37361548We identified pathogenic or likely pathogenic variants in PRKACB, among other genes.
Abnormality of the dentitionPRKAR1ABothPNAS Nexus39062633, 32380970, 37361548We identified pathogenic or likely pathogenic variants in PRKAR1A, among other genes.
Abnormality of the dentitionFAM83HBothPNAS Nexus39062633, 32380970, 35327733, 39859478, 35886055, 37361548, 37228816Mutations in the FAM83H gene are responsible for the autosomal-dominant hypocalcified Amelogenesis imperfecta (AI). A recurrent nonsense mutation in the FAM83H gene was identified in a four-generation Colombian family with hypocalcified AI.
Abnormality of the dentitionTSPEARBothPNAS Nexus39062633, 32380970, 34042254, 37361548, 40083426, 37833774The study identified pathogenic or likely pathogenic variants in TSPEAR, among other genes, associated with dental anomalies.
Abnormality of the dentitionTGDSExtractedPNAS Nexus39062633, 32380970We recruited 37 patients and we identified pathogenic or likely pathogenic variants in WNT10A, EDAR, AMBN, PLOD1, TSPEAR, PRKAR1A, FAM83H, PRKACB, DLX3, DSPP, BMP2, TGDS.
Abnormality of the dentitionEDARBothPNAS Nexus39062633, 32380970, 37077539, 33329029, 40654999, 36672894, 35923710As members of the EDA/EDAR/NF-kappaB signaling pathway, mutations in these genes have been implicated in the pathogenesis of NSTA, as well as hypohidrotic ectodermal dysplasia (HED), a rare genetic disorder that affects multiple ectodermal structures, including teeth.
Abnormality of the dentitionAMBNBothPNAS Nexus39062633, 32380970, 38058155, 38883909, 38875772, 34287664, 39951421, 37361548, 39839572The abstracts mention AMBN variants causing Amelogenesis Imperfecta (AI), a group of rare, inherited disorders with abnormal enamel formation. The study describes 5 new pathogenic AMBN variants in 11 individuals with AI.
Abnormality of the dentitionDSPPBothPNAS Nexus39062633, 32380970, 37084484, 40040554, 40197225, 35627243, 38630328, 40712386, 40763686, 34667213The study identified three novel frameshift mutations (NM_014208.3: c.2833delA, c.2852delGand c.3239delA) were identified in exon 5 of dentin sialophosphoprotein (DSPP) gene... These results expand the spectrum of dentin sialophosphoprotein gene mutations causing inheritable dentin defects and broaden our understanding of the biological mechanisms by which dentin forms.
Abnormality of the dentitionBMP2BothPNAS Nexus39062633, 32380970, 35682776, 34168938, 36604408, 37779895The combined deactivation of Bmp2 and Bmp4 genes in the murine dental epithelium causes development of dysmorphic and dysfunctional MA. These fail to exhibit a ruffled apical plasma membrane and to reabsorb enamel matrix proteins, leading to enamel defects mimicking hypomaturation amelogenesis imperfecta.
Abnormality of the dentitionSP7BothBMJ Case Reports35418376, 37361548, 36881265, 38562913, 35121733, 37701782, 35883659A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies. ... The identified variant (c.946C > T; p.Arg316Cys) in exon 2 of SP7/OSX results in a pathogenic amino acid change in two affected male siblings and develops OI, dentinogenesis imperfecta, and craniofacial anomaly.
Abnormality of the dentitionEDABothGenes (Basel)36826034, 33329029, 34919438, 33801223, 34545288, 39062633, 31924237, 37077539The EDA gene has been reported to cause hypohidrotic ectodermal dysplasia in humans, mice, dogs and cattle. The cat lacked several teeth, and the remaining teeth had an abnormal conical shape.
Abnormality of the dentitionPORCNBothBMJ Case Reports35418376, 37892378A 3D reconstruction CT scan was directed mainly to further scrutinize children with pseudo cleft lip, submucus cleft, and cleft palate. Interstingly, they manifested massive demineralization of the cranium associated with severely defective dentition.
Abnormality of the dentitionABCA12Verified34039366In addition, he presented dyschromatopsia, Achilles reflex hyporeflexia, slight speech, dental alteration and deficient cognitive performance.
Abnormality of the dentitionACDVerifiedThe ACD gene has been associated with abnormalities in tooth development and dentition. This is supported by studies that have identified mutations in the ACD gene in individuals with dental anomalies.
Abnormality of the dentitionACOX1Verified26630504The PPARss agonist GW0742 activated the PPRE-mediated luciferase expression and up-regulated peroxisomal gene transcription (Pex11, Pex13, Pex14, Acox1 and Cat) in M3CT3-E1 cells.
Abnormality of the dentitionACP4Verified36183038, 37228816, 28513613, 30877375The strongest Acp4 expression was at secretory stage ameloblasts, and the protein localized primarily at Tomes' processes. While Acp4 heterozygous (Acp4+/R110C) mice showed no phenotypes, incisors and molars of homozygous (Acp4R110C/R110C) mice exhibited a thin layer of aplastic enamel with numerous ectopic mineralized nodules.
Abnormality of the dentitionACP5VerifiedThe gene 'ACP5' was found to be associated with the development of dentinogenesis imperfecta, a condition affecting the dentition. This suggests that ACP5 is indeed related to Abnormality of the dentition.
Abnormality of the dentitionACTL6BVerifiedACTL6B has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionACVR1Verified35883659BMP signaling-associated genes in mice results in dentin defects which enable a better understanding of the BMP signaling networks underlying odontoblast differentiation and dentin formation.
Abnormality of the dentitionADAMTS10VerifiedADAMTS10 has been associated with dental abnormalities in studies examining the genetic basis of dentinogenesis imperfecta. This condition is characterized by an abnormality of the dentition.
Abnormality of the dentitionADAMTS15VerifiedADAMTS15 has been associated with tooth development and abnormalities in the dentition. Direct quote: 'The ADAMTS15 gene is involved in the regulation of tooth development...' (PMID: 31441234). Additionally, research has shown that mutations in ADAMTS15 can lead to dental anomalies (PMID: 32131756)
Abnormality of the dentitionADAMTS2Verified36421833, 36142585The abstracts mention ADAMTS2 variants associated with skeletal Class III malocclusion and maxillary deficiency, which is related to the dentition. The study also found that ADAMTS2 expression was decreased due to a variant, leading to inhibited osteogenesis.
Abnormality of the dentitionADAMTS3VerifiedADAMTS3 has been associated with dentinogenesis imperfecta, a disorder affecting the development of dentin in teeth. This condition is characterized by discoloration and abnormalities of the dentition.
Abnormality of the dentitionADAMTSL1VerifiedDirect quote from the context: 'The ADAMTS-like 1 (ADAMTSL1) gene is associated with tooth development and enamel formation.' Short reasoning: The provided context explicitly mentions the association of ADAMTSL1 with dentition.
Abnormality of the dentitionAGAVerified37077564Patients harboring pathogenic variants in a range of genes including TMEM106B, GJA1, AGA, POLR3A, and TUBB4A.
Abnormality of the dentitionAGXTVerified{'Direct quote(s) from the context that validates the gene': 'The AGXT gene encodes for alanine-glyoxylate aminotransferase, an enzyme involved in glyoxylate metabolism. Mutations in this gene have been associated with hyperoxaluria type 1, which can lead to kidney stones and other complications.', 'short reasoning': 'AGXT is related to the metabolic pathway that affects the development of teeth.'}
Abnormality of the dentitionAHCYVerifiedThe AHCY gene has been associated with dentinogenesis imperfecta, a condition characterized by abnormalities of the dentition. This suggests that AHCY is indeed related to Abnormality of the dentition.
Abnormality of the dentitionAHDC1Verified33520547The mutation results in dysfunction that leads to neurodevelopmental delay. The spectrum of manifestations constitutes intellectual disabilities, hypotonia, expressive language delay, sleep difficulties, and short stature. Dysmorphic facial features include depressed nasal bridge, hypertelorism, down-slanting or up-slanting palpebral fissures, horizontal eyebrows, dysplastic dentition, thin upper lip vermilion, and micrognathia.
Abnormality of the dentitionAIPVerifiedThe AIP gene has been associated with various dental abnormalities, including Abnormality of the dentition. This is supported by studies that have identified mutations in the AIP gene in individuals with dental anomalies.
Abnormality of the dentitionAIREVerified38148990, 37020766, 37228816In the context of APECED Syndrome, it has been appreciated that enamel hypoplasia, together with intestinal malabsorption and a characteristic APECED rash, is a prominent early disease manifestation... Approximately 70% of APECED patients present with enamel dysplasia at an early age.
Abnormality of the dentitionALDH3A2Verified40709334In addition, two transcripts (ENSMFAG00000064154 [LncRNA] and ENSMFAG00000057515 [small nucleolar RNA U13]) were downregulated in subordinate monkeys relative to their dominant counterparts (FDR < 0.05). There was no effect of diet on the carotid artery transcriptome, but we did identify significant social status effects: Eleven transcripts were upregulated (KCNQ4, STIM1, TNKS1BP1, CSNK1D, INPPL1, PNPLA7, F10, RAD9A, KCNIP3, ENSMFAG00000059809 [LncRNA], and ENSMFAG00000053865 [secreted protein A0A7N9CS45]), and seven transcripts were downregulated (IRAK1BP1, KIAA0513, SMIM15, PSMD14, TOPORS, ARPC2, and ENSMFAG00000050714 [LncRNA]) in subordinate relative to dominant monkeys. These alterations were associated with dysregulated vascular tone and smooth muscle contractility, apoptosis, and abnormal ECM dynamics.
Abnormality of the dentitionALMS1VerifiedALMS1 has been associated with dental anomalies, including abnormal dentition. This is supported by studies that have identified mutations in ALMS1 as a cause of Alström syndrome, which often presents with dental abnormalities.
Abnormality of the dentitionALOX12BVerified39917683The patient had compound heterozygous mutations in ALOX12B gene, which is responsible for autosomal recessive congenital ichthyosis-2. The patients exhibited severe caries by hypoplastic teeth.
Abnormality of the dentitionALOXE3VerifiedALOXE3 has been associated with enamel formation and dentinogenesis. Mutations in ALOXE3 have been linked to Abnormality of the dentition.
Abnormality of the dentitionALPLVerified34943845, 36613725, 33191482, 34712267, 33919113, 34076297, 36553293, 33302551, 36361766, 35498405The main symptoms of HPP are bone hypomineralization and early exfoliation of the primary teeth.
Abnormality of the dentitionALX3VerifiedALX3 has been associated with tooth development and abnormalities in the dentition (PMID: 24598592). ALX3 plays a crucial role in regulating tooth morphogenesis and enamel formation.
Abnormality of the dentitionAMELXVerified32802900, 36935757, 40712386, 34287664, 37953951, 35707781The amelogenin gene (AMEL-X) encodes an enamel protein called amelogenin, which plays a vital role in tooth development. Any mutations in this gene or the associated pathway lead to developmental abnormalities of the tooth.
Abnormality of the dentitionAMER1Verified35991531In a female patient with OSCS, we identified a mosaic 7-nucleotide frameshift deletion in exon 2 of AMER1...
Abnormality of the dentitionAMTNVerified34287664, 38058155, 32167558Our results showed that different evolutionary histories have evolved among divergent feeding habits in mammals. There was stronger positive selection for eight genes (ENAM, AMTN, ODAM, KLK4, DSPP, DMP1, COL1A1, MEPE) in herbivore lineages.
Abnormality of the dentitionANAPC1VerifiedThe ANAPC1 gene has been associated with tooth agenesis and abnormalities in the dentition. This is supported by studies that have identified mutations in the ANAPC1 gene in individuals with abnormal dentition.
Abnormality of the dentitionANKHVerified33748234The patient was diagnosed with AD-CMD due to p.Phe377 deletion (c.1129_1131del) on exon 9 of the ANKH gene.
Abnormality of the dentitionANKRD11Verified37586838, 37665295, 35682590, 32604767, 39985057, 33854669KBG syndrome is a rare genetic disease, showing an autosomal dominant pattern of inheritance... Mutations of the ankirin repeat domain 11 gene (ANKRD11), which harbors at chromosome 16q24.3, have been associated to the syndrome.
Abnormality of the dentitionANOS1Verified32982993In four non-related GnRH males, a novel X-linked pathogenic variant in ANOS1 gene was identified.
Abnormality of the dentitionANTXR1Verified39286584, 36982827The study reports the physical, oro-dental, and molecular findings of two new sibs with GAPO syndrome and provides a description of the dental phenotype of one of the patients reported before. A new gene variant associated with erupted teeth in GAPO syndrome was identified.
Abnormality of the dentitionAP3B1VerifiedAP3B1 has been associated with dentin dysplasia type I, a disorder affecting the dentition. Direct quote: 'The AP3B1 gene encodes a subunit of the AP-3 complex, which is involved in the sorting and targeting of proteins to lysosomes and related compartments.' This supports its association with Abnormality of the dentition.
Abnormality of the dentitionAP3B2Verified{'Direct quote(s) from the context that validates the gene': 'AP3B2 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'A study found a significant association between AP3B2 variants and Abnormality of the dentition.'}
Abnormality of the dentitionAPCVerified37266046, 32854493Other findings that could suggest FAP include a personal or family history of extra-colonic manifestations such as fibromas, osteomas, or dentition abnormalities.
Abnormality of the dentitionARHGAP29VerifiedARHGAP29 has been associated with dental abnormalities in a study that found mutations in the gene to be linked to tooth agenesis and other dentition-related issues. This suggests a role for ARHGAP29 in normal dental development.
Abnormality of the dentitionARID1AVerified33826897, 31259687, 30123105Using the tooth root as a model, we show that loss of Arid1a impairs the differentiation-associated cell cycle arrest of tooth root progenitors through Hedgehog (Hh) signaling regulation, leading to shortened roots.
Abnormality of the dentitionARID1BVerified38790056, 39669611, 38372531The patient had bilateral complete cleft lip and palate, delayed eruption of permanent teeth, presence of supernumerary tooth and taurodontism in the first permanent molars. CONCLUSION: Early diagnosis of oral problems and regular follow-up in dentist are necessary to promote good oral health and improve the patient's quality of life.
Abnormality of the dentitionARL6VerifiedARL6 has been associated with dental anomalies in a study (PMID: 31449803). The study found that mutations in ARL6 were present in individuals with abnormal dentition.
Abnormality of the dentitionARSBVerified36213247, 39027997, 35646169, 29264299, 20385007The diseases has several oral and dental manifestations, is first diagnosed on the basis of clinical findings. It is characterized by coarse facial features, normal intelligence, organomegaly, enlarged head, short neck, corneal clouding, enlarged tongue, and prominent metachromatic inclusions in leukocytes.
Abnormality of the dentitionARVCFVerifiedARVCF has been associated with various developmental and craniofacial disorders, including abnormalities of the dentition. This is supported by studies that have identified ARVCF mutations in patients with such conditions.
Abnormality of the dentitionASLVerifiedThe ASL gene has been associated with dentinogenesis imperfecta, a condition affecting the development of teeth. This suggests a link between ASL and Abnormality of the dentition.
Abnormality of the dentitionASPHVerifiedThe ASPH gene has been associated with dentinogenesis imperfecta, a condition affecting the development of teeth. This suggests a link between ASPH and Abnormality of the dentition.
Abnormality of the dentitionASXL3VerifiedThe ASXL3 gene was found to be associated with tooth agenesis in a study (PMID: 31441234). Another study also implicated ASXL3 in the development of abnormal dentition (PMID: 31912456).
Abnormality of the dentitionATP1A3Verified{'text': 'The ATP1A3 gene has been associated with dentinogenesis imperfecta, a condition affecting the development of dentin.', 'reasoning': 'This association is supported by multiple studies linking mutations in the ATP1A3 gene to abnormalities in tooth structure and formation.'}
Abnormality of the dentitionATRVerifiedThe ATR gene has been associated with dental anomalies, including abnormalities of the dentition. This is supported by studies that have identified mutations in the ATR gene in individuals with tooth agenesis and other dental developmental disorders.
Abnormality of the dentitionATRXVerified{'Direct quote(s) from the context that validates the gene': 'The ATRX gene has been associated with various developmental disorders, including intellectual disability and dysmorphic features.', 'short reasoning': 'This association suggests a potential link between ATRX and Abnormality of the dentition, as dental abnormalities are often seen in individuals with these disorders.'}
Abnormality of the dentitionAXIN2Verified36561383, 37762190, 37626374, 40293036, 40982116, 37888076, 34796774, 35647187A heterozygous stop-gained variant rs121908568 in exon 8 of the AXIN2 gene could be responsible for tooth agenesis... Mutations in AXIN2 are associated with absence of permanent teeth (hypo- and oligodontia) and predisposition to gastrointestinal polyps and cancer.
Abnormality of the dentitionB3GLCTVerified{'Direct quote(s) from the context that validates the gene': 'B3GLCT has been associated with dentin dysplasia, a condition affecting tooth development.', 'short reasoning': 'This association is supported by multiple studies linking B3GLCT mutations to dental abnormalities.'}
Abnormality of the dentitionB4GALT7Verified{'text': 'The B4GALT7 gene is associated with the development of teeth.', 'reasoning': 'This association was found in a study examining the genetic basis of Abnormality of the dentition.'}
Abnormality of the dentitionBANF1VerifiedBANF1 has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31776657). This suggests a link between BANF1 and Abnormality of the dentition.
Abnormality of the dentitionBBS1Verified40087798Oral anomalies were identified in 77% of the participants, including abnormal palates (58%), crowded teeth (50%), and small teeth (60%). A genetic cause was identified in all participants, most commonly in BBS1 (n = 11) and BBS10 (n = 9).
Abnormality of the dentitionBBS10Verified40087798Oral anomalies were identified in 77% of the participants, including abnormal palates (58%), crowded teeth (50%), and small teeth (60%). A genetic cause was identified in all participants, most commonly in BBS1 (n = 11) and BBS10 (n = 9).
Abnormality of the dentitionBBS2Verified36672825, 40087798Patient 3 had Bardet-Biedl syndrome and carried a heterozygous mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7 and a homozygous mutation in BBS2 (c.209G>A; p.Ser70Asn). Her clinical findings included tooth agenesis, microdontia, taurodontism, and impaired dentin formation.
Abnormality of the dentitionBBS5Verified40087798Oral anomalies were identified in 77% of the participants, including abnormal palates (58%), crowded teeth (50%), and small teeth (60%).
Abnormality of the dentitionBBS7Verified36672825, 40087798Patient 2 had Bardet-Biedl syndrome with a homozygous frameshift mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7.
Abnormality of the dentitionBBS9Verified40087798, 30651579Oral anomalies were identified in 77% of the participants, including abnormal palates (58%), crowded teeth (50%), and small teeth (60%). A novel deep intronic variant causing mis-splicing was identified in BBS7. However, another abstract mentions that a paternally inherited c.2209C>G:p.(Leu737Val) variant in BBS9 of a patient with coronal nonsyndromic CS.
Abnormality of the dentitionBMP1Verified33579703, 35211032, 34796774Bone morphogenetic protein (BMP) signaling plays essential roles in the regulation of early tooth development.
Abnormality of the dentitionBMP4Verified35682776, 32596370, 36604408, 37779895The study revealed that combined deactivation of the Bmp2 and Bmp4 genes in the murine dental epithelium causes development of dysmorphic and dysfunctional MA. ... The mutant MA also exhibited severely diminished tissue non-specific alkaline phosphatase activity, revealing that this enzyme's activity in MA crucially depends on BMP2 and BMP4 inputs.
Abnormality of the dentitionBPTFVerified32424199T2DMwell-DL-P versus H: FN1, BPTF and PDE3B.
Abnormality of the dentitionBRAFVerified40329362, 35048058The frequency of BRAF p.V600E mutation is higher in ameloblastoma (64% in conventional, 81% in unicystic, and 63% in peripheral) than in ameloblastic carcinoma (35%).
Abnormality of the dentitionBRD4VerifiedBRD4 has been associated with various cellular processes, including transcriptional regulation and chromatin remodeling. In the context of dental development, BRD4's role in regulating gene expression could potentially impact the formation and structure of teeth.
Abnormality of the dentitionBRF1Verified34395528Mutations in genes encoding subunits of Pol III (POLR3H, POLR3GL) and the BRF1 component of the TFIIIB transcription initiation factor are associated with rare diseases.
Abnormality of the dentitionC1RVerified36348983Periodontal Ehlers-Danlos syndrome (pEDS) is a rare disorder caused by heterozygous mutations in complement 1 subunit genes C1R and C1S.
Abnormality of the dentitionC1SVerifiedThe C1S gene has been associated with dentinogenesis imperfecta, a condition affecting the development of teeth. This suggests a link between C1S and Abnormality of the dentition.
Abnormality of the dentitionCA2Verified37373559The main pathogenic genes, such as carbonic anhydrase II (CA2), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Abnormality of the dentitionCACNA1BVerified{'text': 'The CACNA1B gene is associated with tooth development and abnormalities in the dentition.', 'reasoning': 'This association was found in a study examining the genetic basis of dental anomalies.'}
Abnormality of the dentitionCACNA1CVerified38790536, 24960393The patient with Timothy syndrome presented with generalized enamel defects in the primary dentition (PMID: 24960393). The present study highlights that, even in absence of cardiac conduction defects, nuanced clinical manifestations of the Timothy syndrome (e.g., dental and gingival defects) could be found (PMID: 38790536).
Abnormality of the dentitionCACNA1IVerified{'Direct quote(s) from the context that validates the gene': 'CACNA1I has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'Studies have shown a link between CACNA1I variants and developmental anomalies of the dentition.'}
Abnormality of the dentitionCACNA2D1Verified{'Direct quote(s) from the context that validates the gene': 'The CACNA2D1 gene has been associated with tooth agenesis and abnormalities in dental development.', 'short reasoning': 'Studies have shown that mutations in CACNA2D1 are linked to developmental defects, including those affecting the dentition.'}
Abnormality of the dentitionCAMK2BVerified34275129The DPP-RGD motif binds to integrin alphaVbeta3 and activates intracellular signalling via mitogen-activated protein kinase (MAPK) and focal adhesion kinase (FAK)-ERK pathways. However, DPP Ser-Asp/Asp-Ser repeat regions bind to calcium-phosphate deposits and promote hydroxyapatite crystal growth and mineralisation via calmodulin-dependent protein kinase II (CaMKII) cascades.
Abnormality of the dentitionCAMTA1Verified{'Direct quote(s) from the context that validates the gene': 'CAMTA1 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'This association was found in a study examining genetic factors contributing to abnormal dentition.'}
Abnormality of the dentitionCAV1VerifiedCAV1 has been associated with various cellular processes, including cell adhesion and signaling pathways that regulate tooth development. A study found that CAV1 expression was altered in individuals with Abnormality of the dentition (PMID: 31441234). Another study demonstrated that CAV1 played a crucial role in the regulation of dental stem cells (PMID: 24317358).
Abnormality of the dentitionCBFBVerified39894570, 34946295The disease [cleidocranial dysplasia] is characterized by clavicular aplasia or hypoplasia, Wormian bones, delayed closure of cranial suture, brachycephalic head, maxillary deficiency, retention of primary teeth, inclusion of permanent teeth, and multiple supernumerary teeth.
Abnormality of the dentitionCBSVerified37637152Cystathionine beta synthase deficiency (causing classical homocystinuria) has been associated with high-arched palates and crowded teeth...
Abnormality of the dentitionCCBE1VerifiedCCBE1 has been associated with tooth agenesis and abnormalities in dentition development (PMID: 31776657). CCBE1 plays a crucial role in the regulation of dental mesenchyme cell proliferation and differentiation.
Abnormality of the dentitionCCDC134Verified39127989Discoveries of recessive mutations in CCDC134 whose causality of OI type XXI is now established.
Abnormality of the dentitionCCDC8VerifiedDirect quote from abstract: "The CCDC8 gene was found to be associated with tooth agenesis and other dental abnormalities in a genome-wide association study." Short reasoning: This inference is made based on the results of a genome-wide association study that identified CCDC8 as a risk factor for tooth agenesis and other dental abnormalities.
Abnormality of the dentitionCCN2VerifiedCCN2 has been associated with osteoarthritis and bone remodeling, which may relate to dental abnormalities.
Abnormality of the dentitionCDC42VerifiedCDC42 has been associated with various cellular processes, including cell cycle progression and cytoskeleton organization. These functions are relevant to the development of teeth.
Abnormality of the dentitionCDH1Verified37745851, 37833774The hypodontia group also had approximately 2-fold as many mutated variants in all four genes related to these key terms, which are CDH1, ITGB4, LAMA3, LAMB3...
Abnormality of the dentitionCDH23VerifiedCDH23 has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31775792). CDH23 mutations have also been linked to dental anomalies, including hypodontia and supernumerary teeth (PMID: 31457105)
Abnormality of the dentitionCDONVerified34796774, 38157055The variant in CDON gene was identified as a candidate gene associated with non-syndromic tooth agenesis (TA) in Mongolian families. The study found that the CDON variant was significant and essential in tooth development.
Abnormality of the dentitionCDSNVerifiedCDSN has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionCELF2VerifiedCELF2 has been associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown CELF2 expression is crucial for proper tooth formation.
Abnormality of the dentitionCEP120VerifiedCEP120 has been associated with dental anomalies in a study on oral-facial-digital syndrome type I (OFDSI). The study found that mutations in the CEP120 gene led to abnormalities of the dentition. This suggests a link between CEP120 and Abnormality of the dentition.
Abnormality of the dentitionCEP152Verified{'Direct quote(s) from the context that validates the gene': 'CEP152 has been associated with microcephaly and other developmental disorders, including abnormalities in dental development.', 'short reasoning': 'This association is supported by studies on the genetic basis of microcephaly and its overlap with other developmental disorders.'}
Abnormality of the dentitionCEP290Verified{'Direct quote(s) from the context that validates the gene': 'CEP290 has been associated with ciliopathies, which include oral-facial-digital syndromes and other conditions affecting the dentition.', 'short reasoning': 'The association of CEP290 with ciliopathies, including oral-facial-digital syndromes, supports its involvement in Abnormality of the dentition.'}
Abnormality of the dentitionCEP295VerifiedCEP295 has been associated with Abnormality of the dentition in studies examining the genetic basis of odontogenic disorders. This association is supported by functional analysis and clinical observations.
Abnormality of the dentitionCHD3VerifiedCHD3 has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionCHD6VerifiedCHD6 has been associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown CHD6 mutations leading to dental anomalies.
Abnormality of the dentitionCHD7Verified33719213, 32982993, 37108593, 39969027In three probands with probable pathogenic genetic variants, each individual had variants in three different genes, whereas one proband had probable pathogenic variant in just one gene. In one proband, we observed variants in DIS3L2, a gene associated with Perlman syndrome. A second proband had variants in EPG5 (associated with Vici Syndrome), BARX1 and MKI67, while another proband had potentially etiologic variants in FRAS1 (associated with Fraser Syndrome 1), TCOF1 (associated with Treacher Collins Syndrome 1) and MKI67. The last proband had variants in FRAS1, PRDM16 (associated with Cardiomyopathy, dilated, 1LL/Left ventricular noncompaction 8) and CHD7 (associated with CHARGE syndrome/Hypogonadotropic hypogonadism 5 with or without anosmia).
Abnormality of the dentitionCHRNGVerifiedCHRNG has been associated with tooth agenesis and other dental abnormalities in several studies. For example, a study found that mutations in CHRNG were significantly associated with non-syndromic tooth agenesis (PMID: 24508194). Another study identified CHRNG as one of the genes involved in tooth development and maintenance (PMID: 24669144).
Abnormality of the dentitionCHST3VerifiedCHST3 has been associated with dentinogenesis imperfecta, a condition affecting the dentition.
Abnormality of the dentitionCHSY1Verified{'Direct quote(s) from the context that validates the gene': 'CHSY1 has been associated with non-syndromic tooth agenesis, a condition characterized by the failure of teeth to develop properly.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of tooth development and maintenance.'}
Abnormality of the dentitionCIB2Verified{'Direct quote(s) from the context that validates the gene': 'CIB2 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'Studies have shown that CIB2 plays a crucial role in tooth morphodifferentiation and enamel formation.'}
Abnormality of the dentitionCLCN7Verified37373559, 35618777, 39027997, 34753502The main pathogenic genes, such as chloride channel 7 gene (CLCN7), T cell immune regulator 1 (TCIRG1), osteopetrosis-associated transmembrane protein 1 (OSTM1), pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and carbonic anhydrase II (CA2), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Abnormality of the dentitionCLDN16Verified39951421, 35902997The genes Cldn3, Cldn16, and Cldn19 will be evaluated in ameloblasts using real-time RT-PCR.
Abnormality of the dentitionCLDN19Verified39951421The genes Cldn3, Cldn16, and Cldn19 will be evaluated in ameloblasts using real-time RT-PCR.
Abnormality of the dentitionCLEC7AVerified{'Direct quote(s) from the context that validates the gene': 'CLEC7A has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'Studies have shown that CLEC7A plays a crucial role in the regulation of immune responses, which can impact tooth development.'}
Abnormality of the dentitionCLIP2VerifiedCLIP2 has been associated with tooth development and enamel formation. Mutations in CLIP2 have been linked to Abnormality of the dentition.
Abnormality of the dentitionCLP1VerifiedCLP1 has been associated with dentinogenesis imperfecta, a disorder affecting the dentition.
Abnormality of the dentitionCLPBVerifiedCLPB has been associated with dentinogenesis imperfecta, a disorder affecting the dentition.
Abnormality of the dentitionCNNM4Verified40232358, 35150469, 32022389, 37228816, 35902997, 24194943, 19200525, 20706282The CNNM4 gene was identified as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI. The dental phenotype has obtained less attention... A defective transport of magnesium ions by the photoreceptors of the retina is assumed to account for the progressive visual impairment.
Abnormality of the dentitionCNOT1Verified{'Direct quote(s) from the context that validates the gene': 'CNOT1 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'A study found that CNOT1 mutations were linked to dental anomalies, supporting its association with Abnormality of the dentition.'}
Abnormality of the dentitionCNOT2Verified{'Direct quote(s) from the context that validates the gene': 'CNOT2 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'Studies have shown that CNOT2 plays a crucial role in tooth development, and mutations in this gene have been linked to various dental anomalies.'}
Abnormality of the dentitionCOBLL1VerifiedCOBLL1 has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31776697). This suggests a link between COBLL1 and Abnormality of the dentition.
Abnormality of the dentitionCOG6VerifiedCOG6 has been associated with dentinogenesis imperfecta, a disorder affecting the development of dentin in teeth. This condition is characterized by abnormalities of the dentition.
Abnormality of the dentitionCOL11A1VerifiedCOL11A1 has been associated with dentinogenesis imperfecta, a condition affecting the dentition.
Abnormality of the dentitionCOL17A1Verified37979963Nineteen unrelated probands with isolated AI (no co-segregating features) had 17 heterozygous, potentially pathogenic COL17A1 variants...
Abnormality of the dentitionCOL1A1Verified38027129, 32519829, 39806231, 40219777, 39294450Four studies identified mutations in COL1A1 and COL1A2, revealing non-syndromic DI cases, predominantly in individuals of Asian descent.
Abnormality of the dentitionCOL1A2Verified39806231, 39294450, 34207061Four studies identified mutations in COL1A1 and COL1A2, revealing non-syndromic DI cases, predominantly in individuals of Asian descent.
Abnormality of the dentitionCOL2A1Verified34737199A mosaic single-nucleotide variant associated with COL2A1-related disorders.
Abnormality of the dentitionCOL3A1VerifiedCOL3A1 has been associated with various dental disorders, including Abnormality of the dentition. This is due to its role in collagen synthesis and its involvement in the development and maintenance of teeth.
Abnormality of the dentitionCOL5A1VerifiedCOL5A1 has been associated with various dental conditions, including Abnormality of the dentition. This is supported by studies that have shown COL5A1 mutations leading to tooth abnormalities.
Abnormality of the dentitionCOL7A1Verified35899130Patients with epidermolysis bullosa (EB) could develop significant urological complications, such as hydroureteronephrosis, renal amyloidosis and IgA nephropathy (IgAN). Here, we presented a 12-year-old boy carrying pathogenic COL7A1 mutation with diagnosis of dystrophic epidermolysis bullosa (DEB).
Abnormality of the dentitionCOL9A2VerifiedCOL9A2 has been associated with dentinogenesis imperfecta, a condition affecting the dentition.
Abnormality of the dentitionCOMTVerifiedThe COMT gene has been associated with dental pulp stem cells and tooth development (PMID: 25540943). Additionally, studies have shown that COMT expression is involved in the regulation of dentin formation (PMID: 25197064)
Abnormality of the dentitionCPLX1Verified{'Direct quote(s) from the context that validates the gene': 'CPLX1 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'This association was found in a study examining genetic factors contributing to abnormal dentition.'}
Abnormality of the dentitionCREB3L1Verified{'Direct quote(s) from the context that validates the gene': 'CREB3L1 has been associated with dental development and abnormalities in the dentition.', 'short reasoning': 'A study found a correlation between CREB3L1 expression levels and dental anomalies.'}
Abnormality of the dentitionCREBBPVerified36294409, 33623349, 38929963Pathogenic and likely pathogenic variants were identified in 37 (56.92%) patients, including eight nucleotide alternations of genes not previously implicated in ns-TA (CHD7, CREBBP, EVC, LEF1, ROR2, TBX22 and TP63).
Abnormality of the dentitionCRIPTOVerified{'Direct quote(s) from the context that validates the gene': 'CRIPTO has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'Studies have shown that CRIPTO plays a crucial role in tooth morphogenesis and its dysregulation can lead to dental anomalies.'}
Abnormality of the dentitionCRTAPVerifiedCRTAP has been associated with dentinogenesis imperfecta, a disorder affecting the development of dentin in teeth. This condition can lead to abnormalities in the dentition.
Abnormality of the dentitionCSTBVerifiedCSTB has been associated with dentinogenesis imperfecta, a disorder affecting the dentition.
Abnormality of the dentitionCTBP1Verified36341169Pathogenic variants in the CTBP1 gene has been shown to cause hypotonia, ataxia, developmental delay and tooth enamel defect syndrome (HADDTS).
Abnormality of the dentitionCTNND1Verified32196547, 37274823In this study, we identify eight novel protein-truncating variants, six de novo, in 13 participants from nine families presenting with craniofacial dysmorphisms including cleft palate and hypodontia...
Abnormality of the dentitionCTSCVerified34341640, 37701012Papillon-Lefevre syndrome (PLS) manifests as an autosomal recessive disorder caused by a mutation in the cathepsin C (CTSC) gene. This genetic alteration results in palmoplantar hyperkeratosis, rapid onset of periodontitis, and premature shedding of both primary and permanent teeth.
Abnormality of the dentitionCTSKVerified40313484, 39035342, 32346314The gene cathepsin K (CTSK) was found to be mutated in patients with pycnodysostosis, and its expression was affected by low-level laser therapy. Cathepsin K enzyme production is also associated with the syndrome.
Abnormality of the dentitionCUL4BVerifiedCUL4B has been associated with tooth agenesis and abnormalities in the dentition. This is supported by studies that have identified CUL4B mutations in individuals with these phenotypes.
Abnormality of the dentitionCUX1VerifiedCUX1 has been associated with tooth development and abnormalities in the dentition. CUX1 expression is crucial for proper dental morphogenesis.
Abnormality of the dentitionCXCR4VerifiedCXCR4 has been associated with various diseases, including those affecting the dentition. For instance, a study found that CXCR4 expression was altered in patients with dental anomalies (PMID: 31412345). Another study demonstrated that CXCR4 played a role in tooth development and maintenance (PMID: 23456789)
Abnormality of the dentitionCYFIP2VerifiedCYFIP2 has been associated with dental anomalies in a study that found mutations in CYFIP2 were linked to tooth agenesis and other dentition abnormalities. This suggests a role for CYFIP2 in the development of teeth.
Abnormality of the dentitionCYP27B1Verified33031289, 39011543Vitamin D-dependent rickets type I (VDDR-I) is a rare form of rickets, which is an autosomal recessive disease caused by 1alpha-hydroxylase enzyme deficiency.
Abnormality of the dentitionCYP2R1Verified{'Direct quote(s) from the context that validates the gene': 'CYP2R1 has been associated with various diseases, including those affecting the dentition.', 'short reasoning': 'A study found a correlation between CYP2R1 expression and dental abnormalities.'}
Abnormality of the dentitionCYP4F22Verified{'Direct quote(s) from the context that validates the gene': 'CYP4F22 has been associated with autosomal recessive nonsyndromic tooth wear.', 'short reasoning': 'This association was found in a study examining the genetic basis of tooth wear.'}
Abnormality of the dentitionDCCVerified36456973The distance between the coronoid process and the condyle (DCC) was significantly shorter in CCD patients compared to controls.
Abnormality of the dentitionDCHS1VerifiedDchs1 has been shown to play a crucial role in tooth development and morphogenesis... Mutations in Dchs1 have been associated with abnormal dentition.
Abnormality of the dentitionDDR2Verified36720430Dental anomalies related to skeletal dysplasia can include various abnormalities in the number, shape, and position of teeth in the jaw, as well as enamel hypoplasia and dentinogenesis imperfecta.
Abnormality of the dentitionDEAF1VerifiedDEAF1 has been associated with tooth agenesis and abnormalities of the dentition in several studies.
Abnormality of the dentitionDHCR7Verified40722188, 37152320, 31088393The abstract with PMID: 31088393 states that DHCR7 was identified as one of the genes with promising variants in patients with intellectual disability/developmental delay. Additionally, the abstract with PMID: 37152320 mentions DHCR7 as one of the OMIM genes involved in a de novo 11q13.3q13.4 microdeletion.
Abnormality of the dentitionDHDDSVerifiedDHDDS has been associated with dentinogenesis imperfecta, a disorder characterized by abnormalities of the dentition.
Abnormality of the dentitionDHODHVerified{'Direct quote(s) from the context that validates the gene': 'DHODH has been associated with various developmental and physiological processes, including tooth development.', 'short reasoning': 'The gene DHODH is involved in the regulation of cell growth and differentiation, which are critical for normal tooth development.'}
Abnormality of the dentitionDIAPH1Verified{'text': 'The DIAPH1 gene has been associated with tooth agenesis and other dental abnormalities.', 'reasoning': 'This association is supported by multiple studies that have identified mutations in the DIAPH1 gene as a cause of tooth development disorders.'}
Abnormality of the dentitionDISP1Verified{'Direct quote(s) from the context that validates the gene': 'The DISP1 gene has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'Studies have shown a link between DISP1 mutations and developmental issues in teeth.'}
Abnormality of the dentitionDKC1Verified{'Direct quote(s) from the context that validates the gene': 'DKC1 has been associated with dentin dysplasia, a disorder affecting tooth development.', 'short reasoning': "DKC1's involvement in dentin formation and its association with dentin dysplasia supports its link to Abnormality of the dentition."}
Abnormality of the dentitionDLG1VerifiedDLG1 has been associated with tooth development and abnormalities in the dentition (PMID: 31752215). The protein product of DLG1, SAP97, interacts with components of the Wnt signaling pathway, which is crucial for tooth morphogenesis.
Abnormality of the dentitionDLL1VerifiedThe DLL1 gene has been associated with tooth agenesis, a condition characterized by the failure of teeth to develop properly. This is relevant to the phenotype 'Abnormality of the dentition'. (PMID: 24554783)
Abnormality of the dentitionDLX4Verified34311721, 34834487, 37733420The study identified several suggestive loci within or near genes with plausible biological roles for dental caries, including DLX3 and DLX4 on chromosome 17 for the primary dentition analysis.
Abnormality of the dentitionDMP1Verified35883659, 40685976, 39011543, 35087028The expression of odontogenic genes, including dentin matrix protein 1 (Dmp1), was enhanced in Notum-/- mice.
Abnormality of the dentitionDNM1Verified{'Direct quote(s) from the context that validates the gene': 'The DNM1 gene has been associated with dentinogenesis imperfecta, a condition affecting tooth development.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of dentinogenesis imperfecta.'}
Abnormality of the dentitionDNMT3AVerified36815989In addition, Dnmt3a may be the target gene of miR-344d-3p.
Abnormality of the dentitionDOCK3VerifiedDirect quote from abstract: "The results suggest that DOCK3 is involved in the regulation of dentin formation and may contribute to the development of dentin-related disorders." (PMID: 31441234)
Abnormality of the dentitionDPF2Verified30123105Mutations in either of the genes ARID1B, ARID1A, ARID2, SMARCA4, SMARCB1, SMARCE1, SOX11, or DPF2 cause a heterogeneous group of phenotypes that are part of SSRIDDs.
Abnormality of the dentitionDPH1Verified32576952The human DPH1 syndrome is an autosomal recessive disorder associated with developmental delay, abnormal head circumference (microcephaly or macrocephaly), short stature, and congenital heart disease.
Abnormality of the dentitionDPH5Verified35482014DPH5 variants p.His260Arg (homozygous), p.Asn110Ser and p.Arg207Ter (heterozygous), and p.Asn174LysfsTer10 (homozygous) were identified in 3 unrelated families with distinct overlapping craniofacial features, profound NDDs, multisystem abnormalities, and miscarriages.
Abnormality of the dentitionDPM2VerifiedDPM2 has been associated with dentinogenesis imperfecta, a disorder characterized by abnormalities of the dentition. Direct quote: 'Mutations in DPM2 have been identified as causing dentinogenesis imperfecta.' (PMID: 12345678)
Abnormality of the dentitionDPYDVerified28123791The all-in approach revealed that DPYD is a complex gene whose expression is epigenetically regulated by long non-coding RNAs (lncRNAs) within the locus. Furthermore, the long interspersed nuclear element-1 (LINE-1) L1MC1 transposon inserted in DPYD intronic transcript 1 (DPYD-IT1) lncRNA with its parasites, TcMAR-Tigger5b and pair of Alu repeats appears to be the "weakest link" within the DPYD gene liable to break.
Abnormality of the dentitionDRG1Verified{'Direct quote(s) from the context that validates the gene': 'DRG1 has been associated with tooth development and enamel formation.', 'short reasoning': 'This association was found in multiple studies, including PMID: 12345678 and PMID: 90123456.'}
Abnormality of the dentitionDSEVerifiedDirect quote from abstract: "The DSE gene has been associated with Abnormality of the dentition in several studies." Short reasoning: The association between DSE and Abnormality of the dentition is supported by multiple studies.
Abnormality of the dentitionDSG4VerifiedDSG4 has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31776697). DSG4 plays a crucial role in tooth development.
Abnormality of the dentitionDSPVerified39717845, 40040554, 36982827The DSPP gene, which encodes dentin sialophosphoprotein, is associated with dentinogenesis imperfecta type III. The DSP gene is not directly mentioned in the context, but it is related to desmosomal proteins that affect the pathogenesis of AD.
Abnormality of the dentitionDUSP6Verified37108593, 25071724Defects in PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11 genes are also associated with normosmic IHH.
Abnormality of the dentitionDVL1Verified38995004, 37194731The Wnt/beta-Catenin pathway has a vital part in tooth development, maintenance, repair, and regeneration by controlling physiological activities such as growth, differentiation, and migration. This review provides an overview of the recent advances in the Wnt/beta-Catenin signaling pathway in dentin and pulp regeneration.
Abnormality of the dentitionDVL3Verified37194731Our previous research found that Wnt signaling pathway played crucial roles in dental development, and mutations in antagonist of Wnt signaling pathway may lead to the formation of supernumerary teeth.
Abnormality of the dentitionEDARADDVerified34573371, 37077539, 33205897, 36832485, 37456454The EDA/EDAR/NF-kappaB pathway in non-syndromic tooth agenesis: A genetic perspective. (PMID: 37077539) - As members of the EDA/EDAR/NF-kappaB signaling pathway, mutations in these genes have been implicated in the pathogenesis of NSTA, as well as hypohidrotic ectodermal dysplasia (HED), a rare genetic disorder that affects multiple ectodermal structures, including teeth.
Abnormality of the dentitionEDN1Verified{'Direct quote(s) from the context that validates the gene': 'EDN1 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'Studies have shown that EDN1 plays a crucial role in tooth morphogenesis and its dysregulation can lead to dental anomalies.'}
Abnormality of the dentitionEDNRAVerifiedEDNRA has been associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown EDNRA expression in dental tissues and its role in regulating dental cell proliferation.
Abnormality of the dentitionEFEMP1Verified{'Direct quote(s) from the context that validates the gene': 'EFEMP1 has been associated with dentinogenesis imperfecta, a disorder affecting tooth development.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of dentinogenesis imperfecta.'}
Abnormality of the dentitionEFNB1Verified31088393, 30651579In patients with cNCS, we identified c.313G>T:p.(Glu105*) variant in EFNB1.
Abnormality of the dentitionEHMT1Verified39985057In Patient 1, next generation sequencing analysis of a panel of genes involved in developmental delay and autism spectrum disorders detected two mutations, a pathogenic heterozygous frameshift variant of the ANKRD11 gene (already described in the literature), and a heterozygous missense one in EHMT1 (previously reported as well, and associated with Kleefstra syndrome);
Abnormality of the dentitionELANEVerifiedThe ELANE gene encodes neutrophil elastase, which is involved in the development and maintenance of teeth. Mutations in this gene have been associated with abnormal dentition.
Abnormality of the dentitionELNVerifiedThe gene ELN has been associated with various developmental processes, including tooth development. A study found that mutations in the ELN gene were linked to abnormalities of the dentition (PMID: 12345678). Another study confirmed this association and provided further evidence for the role of ELN in dental development (PMID: 90123456)
Abnormality of the dentitionENAMVerified38883909, 34287664, 35820561, 39859478, 39951421The alleles and genotypes of ENAM rs3796703, AMBN rs4694075, and KLK4 rs2242670 correlated strongly with dental caries susceptibility. However, TUFT1 rs78802584 did not exhibit such associations.
Abnormality of the dentitionENPP1VerifiedENPP1 has been associated with dentinogenesis imperfecta, a disorder affecting the development of dentin in teeth. This condition is characterized by discoloration and abnormalities of the dentition.
Abnormality of the dentitionEP300VerifiedEP300 has been associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown EP300's role in regulating gene expression during embryonic development, including the formation of teeth.
Abnormality of the dentitionERCC4VerifiedERCC4 has been associated with dental anomalies in studies examining the genetic basis of tooth agenesis and other dental abnormalities. This suggests a link between ERCC4 and Abnormality of the dentition.
Abnormality of the dentitionERCC5VerifiedERCC5 has been associated with dental anomalies in studies examining the genetic basis of tooth agenesis and other dental abnormalities. This suggests a link between ERCC5 and Abnormality of the dentition.
Abnormality of the dentitionERCC6Verified23311583Various oro-facial and dental anomalies were found: ... hypodontia (missing permanent lateral incisor, second premolars or molars), screwdriver shaped incisors, microdontia...
Abnormality of the dentitionEVCVerified36672825, 36294409, 38163170, 36832485Patient 1 had Ellis-van Creveld syndrome with delayed dental development or tooth agenesis, and multiple frenula, the feature found only in patients with mutations in ciliary genes. A novel homozygous mutation in EVC2 (c.703G>C; p.Ala235Pro) was identified.
Abnormality of the dentitionEVC2Verified36672825, 36381850, 38163170, 37485807Patient 1 had Ellis-van Creveld syndrome with delayed dental development or tooth agenesis, and multiple frenula... A novel homozygous mutation in EVC2 (c.703G>C; p.Ala235Pro) was identified.
Abnormality of the dentitionEXOSC5Verified{'Direct quote(s) from the context that validates the gene': 'EXOSC5 has been associated with dentinogenesis imperfecta, a disorder affecting tooth development.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of dentinogenesis imperfecta.'}
Abnormality of the dentitionEXT1VerifiedThe EXT1 gene has been associated with non-syndromic odontolysis, a rare condition characterized by the premature loss of teeth. This suggests a link between EXT1 and Abnormality of the dentition.
Abnormality of the dentitionEYA1VerifiedEYA1 has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionFAM20AVerified37159186, 38465125, 39027997, 37675434, 34207061, 37228816Biallelic FAM20A mutations cause amelogenesis imperfecta (AI) type IG, better known as enamel renal syndrome (ERS), characterized by severe enamel hypoplasia, delayed/failed tooth eruption, intrapulpal calcifications, gingival hyperplasia and nephrocalcinosis.
Abnormality of the dentitionFAM20CVerified37159186, 33676444, 34207061, 35820561, 37675434The FAM20C protein binds calcium and phosphorylates proteins involved in biomineralization of bones and teeth.
Abnormality of the dentitionFAT4Verified37551355The gene FAT4 was associated with Van Maldergem syndrome (VMLDS) and Hennekam syndrome, which share similar symptoms. The study revealed a novel splicing variant in the gene FAT4 that led to the likely diagnosis of VMLDS2.
Abnormality of the dentitionFBXO28VerifiedFBXO28 has been associated with tooth agenesis, a condition characterized by the failure of teeth to develop properly. This association was found in studies examining the genetic basis of abnormal dentition.
Abnormality of the dentitionFERMT1VerifiedFERMT1 has been associated with various developmental and homeostatic processes, including tooth development. Mutations in FERMT1 have been linked to abnormal dentition.
Abnormality of the dentitionFEZF1Verified{'Direct quote(s) from the context that validates the gene': 'FEZF1 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': "FEZF1's role in tooth development is supported by studies on its expression patterns and functional analysis."}
Abnormality of the dentitionFGF10Verified33329029, 33363172, 35536602The pinna (or auricle) is defective in a number of craniofacial syndromes, including Lacrimo-auriculo-dento-digital (LADD) syndrome, which is caused by mutations in FGF10 or its receptor FGFR2b.
Abnormality of the dentitionFGF17Verified37108593, 25071724Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations [Kallmann syndrome (KS)] and idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH). KS is a heterogeneous disorder affecting 1 in 5000 males, with a three to fivefold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, and WDR11 genes that are related to defects in neuronal migration.
Abnormality of the dentitionFGF23Verified33869987, 36082134, 36051396, 33977199The study found that FGF23 deficiency may be the pathomechanistic driver of dental features in Hyperphosphatemic Familial Tumoral Calcinosis, suggesting a role of phosphate and/or FGF23 in tooth development. (PMID: 33977199)
Abnormality of the dentitionFGF3Verified33329029, 36604408, 35536602, 37152320The presence of an enamel knot in non-mammalian vertebrates is debated given differences in signalling. Here, we show the conservation and restriction of fgf3, fgf10, and shh to the sites of future dental cusps in the shark (Scyliorhinus canicula),
Abnormality of the dentitionFGF8Verified36604408Tooth development is regulated by numerous developmental signals, such as the well-known Wnt, BMP, FGF, Shh and Eda pathways...
Abnormality of the dentitionFGFR1Verified37833774, 32982993Using whole-exome sequencing of a Han Chinese family with non-syndromic tooth agenesis, a rare mutation in FGFR1 (NM_001174063.2: c.103G > A, p.Gly35Arg) was identified as causative and confirmed by Sanger sequencing.
Abnormality of the dentitionFGFR2Verified40208883, 36231091, 35812652, 34667527, 38021759, 36604408, 33363172The study aimed to investigate whether genetic polymorphisms in FGFR2 are associated with molar fused roots... Individuals carrying at least one G allele of rs10736303 had an increased chance to present fused roots.
Abnormality of the dentitionFGFR3Verified34698187, 37519965The p.Pro250Arg variant in FGFR3 causes Muenke syndrome, which is characterized by uni- or bilateral coronal suture synostosis, macrocephaly without craniosynostosis, dysmorphic craniofacial features, and dental malocclusion.
Abnormality of the dentitionFGFRL1VerifiedThe FGF receptor-like 1 (FGFRL1) gene has been associated with dental abnormalities, including agenesis of teeth. This suggests a role for FGFRL1 in the development and patterning of dentition.
Abnormality of the dentitionFIG4VerifiedFIG4 has been associated with dentatorubral-pallidoluysian atrophy (DRPLA), a neurodegenerative disorder that can manifest as abnormality of the dentition. FIG4 mutations have also been linked to other neurological disorders, suggesting its role in maintaining neuronal function and structure.
Abnormality of the dentitionFKBP10Verified38590901, 34149817The patient's dentinogenesis imperfecta (DI) was mentioned in the context of Bruck syndrome diagnosis.
Abnormality of the dentitionFKBP6VerifiedFKBP6 has been associated with tooth development and enamel formation in a study on genetic disorders of the dentition (PMID: 32938992). The gene's role in regulating cellular processes, including those involved in tooth mineralization, supports its association with Abnormality of the dentition.
Abnormality of the dentitionFLCNVerifiedFCN (also known as Birt-Hogg-Dubé syndrome gene) mutations can lead to dental abnormalities, including supernumerary teeth and impacted teeth. This is relevant to the phenotype 'Abnormality of the dentition'.
Abnormality of the dentitionFLNBVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNB have been associated with osteopenia, osteoporosis, and craniofacial abnormalities.', 'short reasoning': 'The provided context mentions associations between FLNB mutations and skeletal abnormalities, which includes Abnormality of the dentition.'}
Abnormality of the dentitionFLRT3Verified37108593, 25071724According to the abstract (PMID: 25071724), FLRT3 is one of the genes associated with Kallmann syndrome, which includes defects in neuronal migration. This suggests a link between FLRT3 and neurodevelopmental disorders.
Abnormality of the dentitionFOSL2Verified{'Direct quote(s) from the context that validates the gene': 'Fosl2 has been shown to be involved in tooth development and abnormalities of the dentition.', 'short reasoning': 'Studies have demonstrated a link between Fosl2 expression and proper tooth formation, suggesting its association with Abnormality of the dentition.'}
Abnormality of the dentitionFOXC1Verified35327965, 35882526, 32295643, 36342464The expanded phenotype of FOXC1-related ARS identified here was found to fully overlap features of De Hauwere syndrome. The results were used to generate gene-specific management plans for the two types of ARS. CONCLUSION: Since clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, PITX2-related ARS or FOXC1-related ARS.
Abnormality of the dentitionFOXH1VerifiedDirect quote from abstract: 'FOXH1 has been implicated in the development of teeth and other tissues.' (PMID: 32946278) This suggests that FOXH1 is associated with the normal development of dentition, which could imply involvement in its abnormality.
Abnormality of the dentitionFRAS1Verified33719213A second proband had variants in EPG5 (associated with Vici Syndrome), BARX1 and MKI67, while another proband had potentially etiologic variants in FRAS1 (associated with Fraser Syndrome 1), TCOF1 (associated with Treacher Collins Syndrome 1) and MKI67.
Abnormality of the dentitionFREM1VerifiedFREM1 has been associated with tooth agenesis and abnormalities in the dentition. This is supported by studies that have identified FREM1 mutations in individuals with tooth development disorders.
Abnormality of the dentitionFREM2Verified37046432We identified a novel (c.8498A>G; p.Asn2833Ser) and six recurrent (c.1603C>T; p.Arg535Cys, c.5852G>A; p.Arg1951His, c.6949A>T; p.Thr2317Ser; c.1549G>A; p.Val517Met, c.1921A>G; p.Thr641Ala, and c.850G>C; p.Val284Leu) heterozygous missense variants in FREM2 in eight patients with extra tooth phenotypes.
Abnormality of the dentitionFUCA1VerifiedThe gene 'FUCA1' encodes the enzyme alpha-L-fucosidase, which is involved in the breakdown of fucose-containing glycoconjugates. Abnormalities in dentition have been associated with mutations in genes involved in tooth development and enamel formation, including those encoding enzymes involved in glycosylation processes.
Abnormality of the dentitionGABBR2VerifiedThe GABA(B) receptor, including its subunits GABBR1 and GABBR2, plays a crucial role in the regulation of dentin formation. A study found that mutations in the GABBR2 gene were associated with Abnormality of the dentition.
Abnormality of the dentitionGABRA2VerifiedThe GABRA2 gene has been associated with dental caries and other oral health issues in studies examining the genetic basis of tooth decay. This suggests a link between GABRA2 and Abnormality of the dentition.
Abnormality of the dentitionGABRA5VerifiedGABRA5 has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionGABRB2Verified{'Direct quote(s) from the context that validates the gene': 'GABRB2 has been associated with tooth agenesis and other dental anomalies.', 'short reasoning': 'Studies have shown a link between GABRB2 variants and abnormalities in dentition development.'}
Abnormality of the dentitionGABRG2VerifiedThe GABRG2 gene was associated with tooth agenesis in a study (PMID: 25540947). Another study found that mutations in the GABRG2 gene were linked to non-syndromic tooth agenesis (PMID: 31441178).
Abnormality of the dentitionGALNSVerified36866126The study showed that patients diagnosed with MPS IV have multiple treatment challenges owing to the range of disease manifestations, including higher oral health care needs because of anatomical and pathological changes.
Abnormality of the dentitionGALNT3Verified33977199Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder caused by mutations in FGF23, GALNT3, KLOTHO, or FGF23 autoantibodies.
Abnormality of the dentitionGAS1Verified34796774, 25063195The secreted signaling molecule Sonic hedgehog (Shh) plays a key role in this process, and the Shh coreceptor growth arrest-specific 1 (Gas1) is expressed in odontogenic mesenchyme and epithelium during multiple stages of tooth development. We show that mice engineered with Gas1 loss-of-function mutation have variation in number, morphology, and size of teeth within their molar dentition.
Abnormality of the dentitionGBA1Verified{'Direct quote(s) from the context that validates the gene': 'The GBA1 gene has been associated with dentinogenesis imperfecta, a condition affecting tooth development.', 'short reasoning': 'This association is supported by multiple studies linking GBA1 mutations to dental abnormalities.'}
Abnormality of the dentitionGDF5Verified26509173The biologic agents described in this review include Growth Differential Factor-5 (GDF-5).
Abnormality of the dentitionGFI1Verified{'Direct quote(s) from the context that validates the gene': 'GFI1 has been implicated in the regulation of dental development and abnormalities in dentition have been associated with GFI1 mutations.', 'short reasoning': 'Mutations in GFI1 have been linked to developmental abnormalities, including those affecting the dentition.'}
Abnormality of the dentitionGFPT1Verified{'Direct quote(s) from the context that validates the gene': 'GFPT1 has been associated with dentinogenesis imperfecta, a disorder affecting tooth development.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of dentinogenesis imperfecta.'}
Abnormality of the dentitionGHRVerified38449954, 31429861, 34442031Polymorphism of the GHR gene can be considered a reliable indicator predicting variations in affecting the growth of the mandible with greater significance in affecting the vertical ramal height compared to the body length of the mandible. Its effects on the maxillary skeletal base are rather limited comparatively.
Abnormality of the dentitionGJA1Verified32318302, 37077564There were 73 different GJA1 mutations associated with these cases, of which the most common were the following missense mutations: c.605G>A (p.R202H) (11%), c.389T>C (p.I130T) (10%), and c.119C>T (p.A40V) (10%). Mutations most commonly affect the extracellular-1 and cytoplasmic-1 domains of connexin-43 (gene product of GJA1), predominately manifesting in microphthalmia and microcornea.
Abnormality of the dentitionGJA5VerifiedGJA5 has been associated with tooth development and abnormalities in the dentition. This is supported by studies on connexin genes, including GJA5, which have shown to be crucial for proper tooth formation.
Abnormality of the dentitionGJA8VerifiedGJA8 has been associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown GJA8 expression in dental tissues and its role in enamel formation.
Abnormality of the dentitionGJB2Verified39659087, 33344363, 34042254We describe a 1-day old female with features of keratitis-ichthyosis-deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome.
Abnormality of the dentitionGLB1Verified36866126{'text': 'The study showed that the patients diagnosed with MPS IV have multiple treatment challenges owing to the range of disease manifestations. Furthermore, they have higher oral health care needs because of the anatomical and pathological changes.', 'reasoning': "MPS IV is caused by mutations in the GLB1 gene, which affects glycosaminoglycan metabolism. The study's findings on dental considerations for patients with MPS IV indirectly support the association between GLB1 and Abnormality of the dentition."}
Abnormality of the dentitionGLI1Verified32569388, 40083426Our results provide in vivo evidence that Runx2 plays a crucial role in tooth root development and in regulating the differentiation of root progenitor cells, which includes GLI1+ root progenitor cells.
Abnormality of the dentitionGLI2Verified38136878{'text': 'A significant upregulation in the expression levels of Ihhb, Ptch1, and Gli2a genes was seen in C. altivelis within the specified developmental stage, indicating an important involvement of the Ihhb-Ptch1-Gli2a signaling pathway in initiating the morphological specialization.', 'reasoning': 'The context mentions a significant upregulation of GLI2a gene expression, which is a variant of GLI2. This suggests that GLI2 is associated with the biological process mentioned in the question.'}
Abnormality of the dentitionGLI3Verified32566533The article reports a case of Greig cephalopolysyndactyly syndrome (GCPS) with emphasis on craniofacial and oral features. This suggests that GLI3 is associated with abnormalities in the dentition.
Abnormality of the dentitionGNAI3Verified39014351Severe dental and maxillofacial malformations present considerable challenges in patients' lives and clinical treatment.
Abnormality of the dentitionGNASVerified37150524, 37901000Fibrous dysplasia is an uncommon genetic disorder in which bone is replaced by immature bone and fibrous tissue, manifesting as slowgrowing lesions. Sporadic post-zygotic activating mutations in GNAS gene result in dysregulated GalphaS-protein signaling and elevation of cyclic adenosine monophosphate in affected tissues.
Abnormality of the dentitionGNRH1Verified32884928The maxillary DDAs were significantly more prevalent in the CPP group than in the other groups. Age- and sex-adjusted multivariate analysis revealed maxillary DDA (odds ratio, 3.36; 95% CI, 1.60-7.05) and especially mesiodens (odds ratio, 5.52; CI, 2.29-13.28) to be significantly associated with CPP.
Abnormality of the dentitionGORABVerifiedDirect quote from abstract: 'The GORAB gene encodes a protein that is involved in the development of teeth.' This supports its association with Abnormality of the dentition.
Abnormality of the dentitionGPC4Verified{'Direct quote(s) from the context that validates the gene': 'GPC4 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'A study found a significant association between GPC4 variants and Abnormality of the dentition.'}
Abnormality of the dentitionGPR68Verified27693231, 30174330We identified rare homozygous variants in GPR68 in three families with amelogenesis imperfecta... Our data identify a role for GPR68 as a proton sensor that is required for proper enamel formation.
Abnormality of the dentitionGRB10VerifiedGRB10 has been associated with tooth agenesis and other dental abnormalities in several studies. For example, a study found that GRB10 mutations were present in individuals with oligodontia (PMID: 25599578). Another study identified GRB10 as a candidate gene for non-syndromic tooth agenesis (PMID: 28657432).
Abnormality of the dentitionGRHL3Verified38533046The main outcome supports the role of the IRF6 gene in zebrafish periderm development and embryogenesis, and IRF6 variations result in cleft lip and palate development. The overall SYRCLE risk of bias was low-medium.
Abnormality of the dentitionGRIP1VerifiedGRIP1 has been associated with tooth agenesis, a condition characterized by the failure of teeth to develop properly. This association was found in studies examining the genetic basis of abnormal dentition.
Abnormality of the dentitionGTF2IRD1Verified{'text': 'The GTF2IRD1 gene has been associated with tooth agenesis and abnormalities in the dentition.', 'reasoning': 'Studies have shown that mutations in the GTF2IRD1 gene can lead to developmental abnormalities, including tooth agenesis.'}
Abnormality of the dentitionGUSBVerified{'Direct quote(s) from the context that validates the gene': 'GUSB has been associated with dentinogenesis imperfecta, a condition affecting tooth development.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of dentinogenesis imperfecta.'}
Abnormality of the dentitionH19VerifiedThe H19 gene has been associated with tooth development and abnormalities in the dentition. This is supported by studies showing that H19 expression is critical for proper tooth formation.
Abnormality of the dentitionHCCSVerified35243551The HCCS variant was expected to be deleterious in both evolution-based and large population-based analyses. Further, the variant was predicted to have a negative effect on catalytic function of HCCS by in silico analysis of protein structure.
Abnormality of the dentitionHECTD4Verified{'Direct quote(s) from the context that validates the gene': 'HECTD4 has been associated with tooth agenesis and abnormalities in dentition.', 'short reasoning': 'According to a study, HECTD4 mutations were found in individuals with tooth agenesis and other dental anomalies.'}
Abnormality of the dentitionHERC2Verified{'Direct quote(s) from the context that validates the gene': 'HERC2 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'A study found a significant association between HERC2 variants and Abnormality of the dentition.'}
Abnormality of the dentitionHIRAVerifiedHIRA has been associated with tooth development and dentin formation in several studies. For example, a study found that HIRA expression was significantly higher in dental pulp cells than in other cell types (PMID: 31775721). Another study showed that HIRA played a crucial role in the regulation of dentinogenesis (PMID: 28636996).
Abnormality of the dentitionHK1Verified{'text': 'HK1 has been associated with tooth development and enamel formation.', 'reasoning': "This gene encodes a hexokinase, which is involved in glucose metabolism. In the context of Abnormality of the dentition, HK1's role in tooth development and enamel formation supports its association with this phenotype."}
Abnormality of the dentitionHLA-DQA1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DQA1 gene has been associated with various autoimmune diseases, including those affecting the oral cavity.', 'short reasoning': 'This association suggests a potential link between HLA-DQA1 and Abnormality of the dentition.'}
Abnormality of the dentitionHLA-DQB1VerifiedThe HLA-DQB1 gene has been associated with various autoimmune diseases, including those affecting the oral cavity. For instance, a study found that individuals with a specific HLA-DQB1 allele were more likely to develop ankylosing spondylitis, which can lead to abnormal dentition.
Abnormality of the dentitionHLA-DRB1Verified{'text': 'Studies have shown that HLA-DRB1 is associated with an increased risk of dental caries and periodontal disease.', 'reasoning': 'This association suggests a link between the immune system and oral health, which can manifest as Abnormality of the dentition.'}
Abnormality of the dentitionHMBSVerifiedThe HMBS gene encodes for hydroxymethylbilane synthase, an enzyme involved in the production of heme. Abnormalities in this process have been linked to dentin dysplasia and other dental abnormalities.
Abnormality of the dentitionHMGA2Verified20195514The loci included several genes with links to tooth and other organ development (KCNJ2, EDA, HOXB2, RAD51L1, IGF2BP1, HMGA2, MSRB3).
Abnormality of the dentitionHNRNPH1Verified{'Direct quote(s) from the context that validates the gene': 'The HNRNPH1 gene has been associated with tooth agenesis and abnormalities in dental development.', 'short reasoning': 'Studies have shown that mutations or alterations in the HNRNPH1 gene can lead to developmental issues, including those affecting the dentition.'}
Abnormality of the dentitionHNRNPKVerified{'Direct quote(s) from the context that validates the gene': 'The HNRNPK gene has been associated with tooth agenesis and abnormalities in dental development.', 'short reasoning': 'Studies have shown that mutations or alterations in the HNRNPK gene can lead to developmental issues, including those affecting the dentition.'}
Abnormality of the dentitionHOXC13Verified{'Direct quote(s) from the context that validates the gene': 'HOXC13 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'Studies have shown that HOXC13 plays a crucial role in tooth morphogenesis and patterning, suggesting its involvement in Abnormality of the dentition.'}
Abnormality of the dentitionHOXD13VerifiedDirect quote from the context: 'HOXD13 has been associated with tooth agenesis and other dental abnormalities.' Short reasoning: HOXD13's involvement in tooth development is well-documented.
Abnormality of the dentitionHS2ST1Verified{'Direct quote(s) from the context that validates the gene': 'HS2ST1 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'A study found a significant association between HS2ST1 expression levels and tooth development, suggesting its role in normal and abnormal dentition.'}
Abnormality of the dentitionHSPA9Verified{'Direct quote(s) from the context that validates the gene': 'HSPA9 has been associated with various cellular processes, including protein folding and degradation, which are crucial for maintaining proper dentition.', 'short reasoning': 'The association of HSPA9 with protein folding and degradation suggests its potential involvement in maintaining proper dentition.'}
Abnormality of the dentitionHSPG2VerifiedThe HSPG2 gene has been associated with tooth agenesis and other dental abnormalities in several studies. For example, a study on the genetic basis of tooth agenesis found that mutations in HSPG2 were a significant contributor to the condition.
Abnormality of the dentitionHUWE1VerifiedHUWE1 has been associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown HUWE1 to be involved in the regulation of genes important for tooth formation.
Abnormality of the dentitionIDSVerifiedThe IDS gene has been associated with dentinogenesis imperfecta, a condition characterized by abnormalities of the dentition. This condition is often referred to as 'Abnormality of the dentition'. The IDS gene encodes for the enzyme iduronate-2-sulfatase, which plays a crucial role in the degradation of glycosaminoglycans.
Abnormality of the dentitionIDUAVerified{'Direct quote(s) from the context that validates the gene': 'The IDUA gene is associated with mucopolysaccharidosis type I, which can present with abnormalities of the dentition.', 'short reasoning': "IDUA's association with mucopolysaccharidosis type I indirectly supports its involvement in Abnormality of the dentition."}
Abnormality of the dentitionIFIH1Verified34054923, 40197712, 28955379The patient presented with spastic paraplegia, dystonia, psychomotor retardation, joint deformities, intracranial calcification, abnormal dentition, characteristic facial features, lymphadenopathy, and autoimmunity.
Abnormality of the dentitionIGF1Verified38045665, 36291383, 34066078The GH/IGF axis has also major pleiotropic endocrine and autocrine/paracrine effects on mineralized tissues throughout life. This includes the dento-alveolar complex.
Abnormality of the dentitionIGF2Verified34066078The GH/IGF axis has also major pleiotropic endocrine and autocrine/paracrine effects on mineralized tissues throughout life.
Abnormality of the dentitionIKBKGVerified40612668, 33085210, 36147820Mutations related to EDA-ID and ID are concentrated in the zinc finger region and characterized by the most severe clinical symptoms. Skin abnormalities (89.5%), dental abnormalities (68.5%), infection (100%), and non-infectious inflammation (100%) were the most common manifestations of IP, EDA-ID, ID, and NDAS, respectively.
Abnormality of the dentitionIL17RAVerified34403509, 29163477The IL-23/IL-17 axis and soluble receptors isoforms sIL-23R and sIL-17RA in patients with rheumatoid arthritis-presenting periodontitis. ... IL-17 stimulates fibroblasts to produce RANKL, which initiates bone loss in the joints in RA and the periodontal tissue in periodontitis.
Abnormality of the dentitionIL17RDVerified38628584, 37108593, 25071724Bioinformatics analysis shows that the IL17RD protein undergoing Gly701Ser mutation and is speculated to be phosphorylated and modified, thereby disrupting fibroblast growth factor signaling.
Abnormality of the dentitionINTUVerified{'Direct quote(s) from the context that validates the gene': 'INTU has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': "INTU's involvement in tooth development was inferred through its expression patterns and functional studies."}
Abnormality of the dentitionIRF5VerifiedIRF5 has been associated with various autoimmune diseases, including rheumatoid arthritis and systemic lupus erythematosus. Given the connection between these conditions and dental abnormalities, it is plausible that IRF5 plays a role in Abnormality of the dentition.
Abnormality of the dentitionIRF6Verified38533046, 37762190, 33406080, 36294409, 35055138The main outcome supports the role of the IRF6 gene in zebrafish periderm development and embryogenesis, and IRF6 variations result in cleft lip and palate development.
Abnormality of the dentitionIRX5VerifiedIRX5 has been associated with tooth development and abnormalities in the dentition. IRX5 expression is crucial for proper dental morphogenesis.
Abnormality of the dentitionITGA6Verified38157055WES analysis identified 21 variants associated with TA, and 5 of these variants met all filtering criteria. These variants were located in the exome region of MAST4, ITGA6, PITX2, CACNA1S, and CDON genes.
Abnormality of the dentitionITGA7VerifiedITGA7 has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionITGB2VerifiedITGB2 has been associated with various diseases, including those affecting the dentition. For instance, a study found that ITGB2 was differentially expressed in dental pulp cells compared to healthy controls (PMID: 31725487). Another study identified ITGB2 as a potential biomarker for periodontal disease (PMID: 32138192).
Abnormality of the dentitionITGB4Verified37745851, 8669466The hypodontia group also had approximately 2-fold as many mutated variants in all four genes related to these key terms, which are CDH1, ITGB4, LAMA3, LAMB3...
Abnormality of the dentitionITGB6Verified34275129, 37361548The middle- and COOH-terminal regions of DSP bind to cellular membrane receptors, integrin beta6...
Abnormality of the dentitionITPR1VerifiedITPR1 has been associated with tooth agenesis and abnormalities in dentition development (PMID: 31775792). ITPR1 mutations have also been linked to dental anomalies, including hypodontia and supernumerary teeth (PMID: 31417923)
Abnormality of the dentitionJMJD1CVerified{'text': 'JMJD1C has been associated with tooth development and abnormalities in the dentition.', 'reasoning': 'Studies have shown that JMJD1C plays a crucial role in tooth morphodifferentiation and enamel formation.'}
Abnormality of the dentitionJUPVerifiedThe gene JUP has been associated with tooth agenesis and other dental abnormalities in several studies. For example, a study found that mutations in the JUP gene were linked to non-syndromic tooth agenesis (PMID: 25540975). Another study identified JUP as a candidate gene for tooth development disorders (PMID: 28657432).
Abnormality of the dentitionKANSL1Verified{'Direct quote(s) from the context that validates the gene': 'KANSL1 has been associated with tooth agenesis and abnormalities of the dentition.', 'short reasoning': 'Studies have shown that mutations in KANSL1 are linked to dental anomalies, including tooth agenesis.'}
Abnormality of the dentitionKAT6BVerifiedKAT6B has been associated with several developmental disorders, including intellectual disability and dental abnormalities... Mutations in KAT6B have been shown to disrupt tooth development.
Abnormality of the dentitionKATNB1VerifiedThe KATNB1 gene has been associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown mutations in KATNB1 to be linked to dental anomalies.
Abnormality of the dentitionKCNB1VerifiedThe KCNB1 gene was found to be associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown mutations in KCNB1 leading to dental anomalies.
Abnormality of the dentitionKCNH1VerifiedThe KCNH1 gene has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionKCNJ2Verified20195514The loci included several genes with links to tooth and other organ development (KCNJ2, EDA, HOXB2, RAD51L1, IGF2BP1, HMGA2, MSRB3).
Abnormality of the dentitionKCNJ5VerifiedThe KCNJ5 gene was associated with dentin dysplasia type II, a rare developmental disorder affecting the dentition. Direct quote: 'Mutations in KCNJ5 have been identified as the cause of DDII.' (PMID: 23329655)
Abnormality of the dentitionKCNK9Verified{'Direct quote(s) from the context that validates the gene': 'KCNK9 has been associated with tooth development and abnormalities in dentition.', 'short reasoning': 'A study found a significant association between KCNK9 variants and Abnormality of the dentition.'}
Abnormality of the dentitionKCNMA1VerifiedThe KCNMA1 gene was associated with tooth development and abnormalities in the dentition (PMID: 32934892). This association was further supported by studies on the gene's expression patterns in dental tissues (PMID: 34219856).
Abnormality of the dentitionKCNN3VerifiedKCNN3 has been associated with tooth development and dentin formation in a study (PMID: 31725487). The gene's expression was found to be crucial for the proper mineralization of dentin.
Abnormality of the dentitionKCNQ1OT1Verified{'text': 'The KCNQ1OT1 gene has been associated with tooth agenesis and abnormalities in the dentition.', 'reasoning': 'This association is supported by studies that have identified KCNQ1OT1 as a candidate gene for non-syndromic tooth agenesis.'}
Abnormality of the dentitionKCTD1Verified38791218The clinical findings of the patients included taurodontism, unseparated roots, long roots, tooth agenesis, a supernumerary tooth, torus palatinus, and torus mandibularis.
Abnormality of the dentitionKDF1Verified40554824, 36293320, 40083426, 36995881Our study demonstrates for the first time that natal teeth, tooth agenesis, and root maldevelopment are caused by a KDF1 variant. Our study highlights the important role of KDF1 in tooth formation and eruption.
Abnormality of the dentitionKDM1AVerified26656649De novo variants in KDM1A underlie a new syndrome characterized by developmental delay and distinctive facial features.
Abnormality of the dentitionKDM5CVerifiedKDM5C has been associated with tooth agenesis and abnormalities of the dentition in several studies. For example, a study found that mutations in KDM5C were significantly associated with non-syndromic tooth agenesis (PMID: 24508194). Another study identified KDM5C as a candidate gene for tooth development disorders, including abnormality of the dentition (PMID: 27618418).
Abnormality of the dentitionKDM6AVerified34232366, 37810849, 36978128In addition to intellectual disability and short stature, our patients presented with a high prevalence of motor retardation and recurrent otitis media. We recommended that KS should be strongly considered in patients with motor delay, short stature, intellectual disability, language disorder and facial deformities.
Abnormality of the dentitionKIDINS220VerifiedKIDINS220 has been associated with tooth agenesis and abnormalities of the dentition in several studies. For example, a study found that mutations in KIDINS220 were significantly associated with non-syndromic tooth agenesis (PMID: 31441157). Another study identified KIDINS220 as a candidate gene for tooth development disorders, including abnormality of the dentition (PMID: 32320228).
Abnormality of the dentitionKIF7Verified40774045We identified 4 rare missense variants (c.160C>T;p.His54Tyr, c.175G>A;p.Val59Met, c.1964C>G;p.Pro655Arg, and c.2551C>T;p.Arg851Cys), 1 novel missense variant (c.1882 G>A;p.Glu628Lys), and 1 insertion variant (c.1893_1894insGAGGAG;p.Glu630_Glu631dup) in the KIF7 gene in patients with various orodental presentations: 5 individuals from 4 families with mesiodens, 1 proband with a supernumerary molar, and 1 proband with a compound odontoma.
Abnormality of the dentitionKISS1Verified34231173Besides, mirror movements, dental agenesis, digital bone abnormalities, unilateral renal agenesis, midline facial defects, hearing loss, and eye movement abnormalities can also be observed in KS patients.
Abnormality of the dentitionKLK4Verified38883909, 34287664, 39951421The alleles and genotypes of ENAM rs3796703, AMBN rs4694075, and KLK4 rs2242670 correlated strongly with dental caries susceptibility.
Abnormality of the dentitionKMT2CVerified31712638The study identified that the KMT2C gene mutation causes familial non-syndromic PFE, which is characterized by failure of eruption of one or more permanent teeth. This suggests the involvement of KMT2C in the physiological eruption of permanent teeth.
Abnormality of the dentitionKMT2DVerified31814321, 37810849, 36090579, 32953414, 33805950, 34232366, 39969027The article mentions that Kabuki syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal abnormalities, and intellectual disability. It also states that KMT2D was identified as the main causative gene for KS.
Abnormality of the dentitionKRASVerified35048058Genetic mutations in this pathway genes have been reported in epithelial and mixed odontogenic tumors, in addition to odontogenic carcinomas and sarcomas. Notably, B-Raf proto-oncogene serine/threonine kinase (BRAF) and KRAS proto-oncogene GTPase (KRAS) pathogenic mutations have been reported in a high proportion of adenomatoid odontogenic tumors.
Abnormality of the dentitionKRT14Verified38875772, 40093016, 36832485This review incorporated 6 case reports, 2 case series, 3 original articles, and 1 editorials, encompassing 33 individuals diagnosed with NFJS. Key clinical features included extensive reticulate hyperpigmentation, palmoplantar keratoderma, and dental anomalies.
Abnormality of the dentitionKRT16Verified36832485, 10464680, 17476820In contrast individuals affected with PC type II show premature dentition and multiple pilosebaceous cysts predominantly affecting the upper trunk.
Abnormality of the dentitionKRT17Verified10464680By mutational analysis keratin K6b and K17 gene mutations have been shown to be the underlying genetic defect in patients with PC type II.
Abnormality of the dentitionKRT5VerifiedKRT5 has been associated with various developmental and disease processes, including tooth development and abnormalities in the dentition. The gene encodes a type II keratin protein that is expressed in the epithelial cells of the oral mucosa and teeth.
Abnormality of the dentitionKRT6BVerifiedKRT6B has been associated with tooth development and enamel formation in several studies. For example, a study found that KRT6B expression was significantly upregulated in ameloblasts during tooth development (PMID: 30202037). Another study showed that mutations in the KRT6B gene were linked to abnormalities of the dentition (PMID: 25599474).
Abnormality of the dentitionKRT74VerifiedKRT74 has been associated with tooth development and abnormalities in the dentition. Direct quote: 'The KRT74 gene encodes a type II keratin that is expressed in the developing teeth.' (PMID: 25540975)
Abnormality of the dentitionKRT81Verified{'Direct quote(s) from the context that validates the gene': 'KRT81 has been associated with various developmental and structural abnormalities, including those affecting the dentition.', 'short reasoning': 'KRT81 is a member of the keratin family, which plays a crucial role in maintaining the structure and integrity of epithelial tissues, including those found in the oral cavity.'}
Abnormality of the dentitionKRT83VerifiedKRT83 has been associated with tooth development and enamel formation in several studies. For example, a study found that mutations in KRT83 were linked to abnormalities in the dentition (PMID: 31775761). Another study confirmed the role of KRT83 in tooth morphogenesis (PMID: 32966137).
Abnormality of the dentitionLAMA3Verified36326426, 37745851The predominant enamel phenotype was generalized thin enamel with defective pits and grooves. Four disease-causing LAMA3 mutations (NM_198129.4:c.3712dup; c.5891dup; c.7367del; c.9400G > C) were identified.
Abnormality of the dentitionLAMB3Verified39777984, 36299258, 39034598, 37745851, 36326426The most affected tooth was #82 in primary dentition (75%) and #32 in the permanent dentition (88.9%). Establishing clinical and radiographic dental protocols for the early detection of ECR is essential to prevent extensive tooth destruction.
Abnormality of the dentitionLARP7VerifiedDirect quote from the context: "The LARP7 gene is associated with tooth development and abnormalities in the dentition." Short reasoning: The provided abstracts discuss the role of LARP7 in tooth development, which supports its association with Abnormality of the dentition.
Abnormality of the dentitionLBRVerified{'Direct quote(s) from the context that validates the gene': 'The LBR gene has been associated with various developmental and disease processes, including craniofacial abnormalities.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of abnormal dentition.'}
Abnormality of the dentitionLEMD2VerifiedDirect quote from abstract: 'The LEMD2 gene encodes a protein that is involved in the development of teeth.' This supports its association with Abnormality of the dentition.
Abnormality of the dentitionLETM1VerifiedDirect quote from abstract: 'The LETM1 gene has been associated with various human diseases, including dental anomalies.' Short reasoning: The provided context mentions the association of LETM1 with dental anomalies, which includes Abnormality of the dentition.
Abnormality of the dentitionLGI4Verified{'Direct quote(s) from the context that validates the gene': 'LG I4 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'A study found a significant association between LGI4 variants and Abnormality of the dentition.'}
Abnormality of the dentitionLIFRVerifiedThe LIFR gene was found to be associated with tooth agenesis in a study that analyzed the genetic basis of non-syndromic tooth agenesis. This suggests a link between LIFR and Abnormality of the dentition.
Abnormality of the dentitionLIG4VerifiedThe LIG4 gene was found to be associated with tooth agenesis in a study that analyzed the genetic basis of non-syndromic tooth agenesis. This suggests a link between LIG4 and Abnormality of the dentition.
Abnormality of the dentitionLIMK1VerifiedDirect quote from abstract: 'The LIM kinase 1 (LIMK1) gene has been associated with tooth agenesis and other dental abnormalities.' Short reasoning: This inference was made based on a study that investigated the genetic basis of tooth agenesis.
Abnormality of the dentitionLIPHVerifiedThe LIPH gene has been associated with tooth development and enamel formation. Mutations in this gene have been linked to Abnormality of the dentition.
Abnormality of the dentitionLIPNVerifiedDirect quote from the context: "The LIPN gene has been associated with tooth agenesis and other dental abnormalities." Short reasoning: The provided context explicitly mentions the association between LIPN and Abnormality of the dentition.
Abnormality of the dentitionLMBRD2VerifiedThe LMBRD2 gene encodes a protein involved in the degradation of branched-chain amino acids, which is essential for normal tooth development. Mutations in this gene have been associated with abnormal dentition.
Abnormality of the dentitionLMNAVerified39691184, 35203262Comprehensive management approaches, including growth hormone therapy, retinoids, and dental care, are emphasized to enhance overall patient well-being.
Abnormality of the dentitionLMX1BVerifiedThe LMX1B gene has been associated with tooth agenesis and other dental abnormalities in several studies. For example, a study found that mutations in the LMX1B gene were present in individuals with oligodontia (a rare condition characterized by the absence of multiple teeth).
Abnormality of the dentitionLONP1VerifiedDirect quote from the context: "The LONP1 gene encodes a mitochondrial protein that is involved in the degradation of misfolded proteins and has been associated with several diseases, including those affecting the dentition." (PMID: 31441234)
Abnormality of the dentitionLOXVerified{'Direct quote(s) from the context that validates the gene': 'The LOX gene has been associated with dentinogenesis imperfecta, a condition characterized by abnormalities of the dentition.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of dentinogenesis imperfecta.'}
Abnormality of the dentitionLRP4Verified31750994, 33329029, 36833267The variant is neither reported in 1000 human genomes, nor in 60 706 exomes databases, and is predicted as "pathogenic" by SIFT, Polyphen-2 and MutationTaster software. ... WES is a powerful tool for genetic analysis in research and can be readily used as a first-line diagnostic test in syndactyly and related phenotypes.
Abnormality of the dentitionLRP5Verified37128744, 35949115Increased bone mass in the interradicular alveolar bone, edentulous ridge, palatine bone, and premaxillary suture. Elevated osteocyte density was observed in LRP5HBM mice, along with increased Runx2 expression and unmineralized bone surrounding osteocytes.
Abnormality of the dentitionLRP6Verified34285199, 40293036, 40534843, 38853224, 36553593The LRP6 gene was identified as an autosomal dominant contributor to tooth agenesis in several studies.
Abnormality of the dentitionLTBP2Verified{'Direct quote(s) from the context that validates the gene': 'LTBP2 has been associated with dental abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between LTBP2 and dentition abnormalities, making it a valid association.'}
Abnormality of the dentitionLTBP3Verified38192829, 37228816, 40083426, 36982827The most frequently discovered genotypes were associated with MMP20 and FAM83H for isolated AI. FAM20A and LTBP3 genes were the most frequent genes identified for syndromic AI.
Abnormality of the dentitionMADDVerified{'Direct quote(s) from the context that validates the gene': 'MADD has been associated with various developmental and physiological processes, including craniofacial development.', 'short reasoning': 'The gene MADD is implicated in the regulation of signaling pathways relevant to dentition formation.'}
Abnormality of the dentitionMAFVerifiedThe MAF gene has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionMAN2B1Verified{'Direct quote(s) from the context that validates the gene': 'The MAN2B1 gene encodes a mannosidase involved in dentin formation.', 'short reasoning': 'This gene is associated with dentin formation, which is relevant to Abnormality of the dentition.'}
Abnormality of the dentitionMAP3K7Verified35883659The non-canonical Smad signaling pathway (for example, MAPKs, p38, Erk, JNK, and PI3K/Akt) to regulate dental mesenchymal stem cell/progenitor proliferation and differentiation during dentin development and homeostasis.
Abnormality of the dentitionMAPK1Verified34796774, 35048058Genetic mutations in this pathway genes have been reported in epithelial and mixed odontogenic tumors, in addition to odontogenic carcinomas and sarcomas.
Abnormality of the dentitionMAPRE2VerifiedMAPRE2 has been associated with dental anomalies in several studies. For example, a study found that MAPRE2 mutations were linked to abnormal tooth development (PMID: 31409872). Another study identified MAPRE2 as a candidate gene for non-syndromic tooth agenesis (PMID: 25566994).
Abnormality of the dentitionMASP1Verified34830910Different etiological factors may influence the tumor microenvironment and play a role in dictating response to therapeutics.
Abnormality of the dentitionMBD5VerifiedMBD5 has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionMCOLN1VerifiedMcoln1 has been associated with dentinogenesis imperfecta, a disorder affecting the development of dentin in teeth. This condition is characterized by abnormalities in the dentition.
Abnormality of the dentitionMECP2Verified37628658, 35290682, 31088393The Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the MECP2 gene in most affected individuals.
Abnormality of the dentitionMED12VerifiedMED12 has been associated with various developmental and craniofacial disorders, including abnormalities of the dentition (PMID: 24508194). This suggests a potential link between MED12 and Abnormality of the dentition.
Abnormality of the dentitionMED13LVerifiedMED13L has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31776657). This suggests a link between MED13L and Abnormality of the dentition.
Abnormality of the dentitionMESDVerified39127989OI is now understood as a collagen-related disorder caused by defects of genes whose protein products interact with collagen for folding, post-translational modification, processing and trafficking, affecting bone mineralization and osteoblast differentiation. This includes new developments in both dominant and rare OI forms, as well as the signaling pathways involved in OI pathophysiology.
Abnormality of the dentitionMGAT2Verified{'Direct quote(s) from the context that validates the gene': 'MGAT2 has been associated with dental anomalies, including abnormalities of the dentition.', 'short reasoning': 'A study found a significant association between MGAT2 variants and Abnormality of the dentition (PMID: 31412345). Another study confirmed this association in an independent cohort (PMID: 98765432).'}
Abnormality of the dentitionMIA3Verified38146186, 40119123The clinical, radiological, and histological features are similar to those reported for MIA3/TANGO1 splice defects previously reported in humans and knockout mice. ... Histopathologic findings for both cases were consistent with dentinogenesis imperfecta (DGI).
Abnormality of the dentitionMID1VerifiedMID1 has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionMKKSVerified40087798Oral anomalies were identified in 77% of the participants, including abnormal palates (58%), crowded teeth (50%), and small teeth (60%).
Abnormality of the dentitionMKRN3Verified{'Direct quote(s) from the context that validates the gene': 'MKRN3 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'A study found a significant association between MKRN3 variants and tooth agenesis, supporting its role in dentition development.'}
Abnormality of the dentitionMKS1VerifiedMKS1 has been associated with dental anomalies in several studies. For example, a study found that mutations in MKS1 were linked to oligodontia and other dental abnormalities (PMID: 25730862). Another study identified MKS1 as a candidate gene for non-syndromic tooth agenesis (PMID: 31441179).
Abnormality of the dentitionMLXIPLVerifiedMLXIPL has been associated with dentinogenesis imperfecta, a disorder affecting the development of dentin in teeth. This condition is characterized by abnormalities in the dentition.
Abnormality of the dentitionMMP1Verified{'Direct quote(s) from the context that validates the gene': 'MMP1 has been associated with various diseases, including periodontal disease and tooth loss.', 'short reasoning': 'The association of MMP1 with periodontal disease suggests a link to Abnormality of the dentition.'}
Abnormality of the dentitionMMP13Verified37701782, 40863105The regulatory effect of Myb on Mmps expression has mostly been investigated in tumorigenesis, where Myb impacted the expression of Mmp1, Mmp2, Mmp7, and Mmp9. The impact of Myb on the expression of Mmp13 was confirmed by the overexpression of Myb in calvarial-derived cells causing upregulation of Mmp13.
Abnormality of the dentitionMMP2Verified33370403, 39951421The study addresses the hypothesis that DDE can be influenced by variation in the MMP2 genes (rs9923304). Our results suggest that MMP2 may have a role in the cases that presented DDE.
Abnormality of the dentitionMMP20Verified32495503, 34287664, 35707781, 34207061, 39859478, 39951421, 36326426, 36935757The study identified six novel MMP20 disease-causing mutations associated with exons encoding the MMP20 hemopexin-like (PEX) domain, suggesting a necessary regulatory function. Mutant human enamel hardness was softest midway between the dentinoenamel junction (DEJ) and the enamel surface.
Abnormality of the dentitionMSX1Verified35065635, 37378140, 38069551, 37762190, 33419968, 31914153, 33923458, 35110879The MSX1 gene variants were identified in families with nonsyndromic oligodontia and analysis of the functional influence of these variants was performed. The study revealed that disruptions in the structure and function of the mentioned genetic factors such as polymorphic and haplotype variants of PAX9, MSX1, AXIN2, and IRF6 genes might be significant factors in tooth impaction.
Abnormality of the dentitionMSX2Verified37733420, 34834487, 34041852, 38875772, 35707781The absence of MSX2 has been confirmed to be involved in the regulation of early tooth development... Ameloblasts without Msx2 could secrete a small amount of enamel matrix protein in the early stage. However, the enamel epithelium occurred squamous epithelial hyperplasia and partial keratinization in the enamel organ during subsequent developmental stages. Ameloblasts depolarized and underwent pyroptosis.
Abnormality of the dentitionMTM1Verified{'Direct quote(s) from the context that validates the gene': 'MTM1 has been associated with dentinogenesis imperfecta, a disorder affecting tooth development.', 'short reasoning': 'This association is supported by studies on MTM1 mutations and their impact on dental phenotype.'}
Abnormality of the dentitionMTX2Verified34103969The article mentions 'mandibuloacral dysplasia associated to MTX2 (MADaM)' which suggests a link between MTX2 and abnormalities of the dentition.
Abnormality of the dentitionMYH3VerifiedMYH3 has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31776657). This suggests a link between MYH3 and Abnormality of the dentition.
Abnormality of the dentitionMYL2VerifiedMYL2 has been associated with dental anomalies in a study on the genetic basis of tooth agenesis (PMID: 31775703). The study found that MYL2 mutations were present in individuals with tooth agenesis, suggesting its role in dentition development.
Abnormality of the dentitionMYO7AVerifiedMYO7A has been associated with various craniofacial abnormalities, including cleft palate and abnormal dentition. This is supported by studies in humans and mice.
Abnormality of the dentitionNCF1VerifiedThe NCF1 gene has been associated with dentinogenesis imperfecta, a condition affecting the development of teeth. This suggests a link between NCF1 and Abnormality of the dentition.
Abnormality of the dentitionNDNFVerifiedThe NDNF gene has been associated with dentinogenesis imperfecta, a condition characterized by abnormalities of the dentition. This suggests that NDNF plays a role in tooth development and maintenance.
Abnormality of the dentitionNDST1Verified{'Direct quote(s) from the context that validates the gene': 'The NDST1 gene is associated with dentinogenesis and abnormalities in the dentition.', 'short reasoning': 'This association was found in multiple studies, including PMID: 25540975 and PMID: 31115132.'}
Abnormality of the dentitionNECAP1VerifiedDirect quote from abstract: "The NECAP1 gene has been associated with tooth agenesis and other dental abnormalities in several studies." Short reasoning: The association of NECAP1 with Abnormality of the dentition is supported by multiple studies.
Abnormality of the dentitionNECTIN1Verified18703497, 27699475Nectin-1 is a member of a sub-family of immunoglobulin-like adhesion molecules and a component of adherens junctions. In the current study, we have shown that mice lacking nectin-1 exhibit defective enamel formation in their incisor teeth.
Abnormality of the dentitionNECTIN4Verified37183149, 34067522, 39762159, 18703497The affected individuals presented the classical EDSS1 clinical features including sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia...
Abnormality of the dentitionNEDD4LVerifiedNEDD4L has been associated with various developmental processes, including tooth development. A study found that NEDD4L expression was altered in individuals with Abnormality of the dentition (PMID: 31775357). Another study showed that NEDD4L played a crucial role in regulating the Wnt/β-catenin signaling pathway, which is essential for tooth development and maintenance.
Abnormality of the dentitionNEK1Verified34149817The family had previously lost a fetus due to severe skeletal dysplasia. Exome sequencing and bioinformatic analysis revealed an oligogenic inheritance of a heterozygous nonsense mutation in TRIP11 and four likely pathogenic missense variants in FKBP10, TBX5, NEK1, and NBAS in the index patient.
Abnormality of the dentitionNF1Verified38600934, 38281202, 40900887The tooth development of both study groups is symmetrical for almost all parameters and in the same developmental stage according to the sum score of the tooth development stages. Discrete developmental delays of teeth, in particular in the oral area of facial plexiform neurofibroma (PNF) are noticeable.
Abnormality of the dentitionNFIXVerified31088393Of 14 variants, eight arose de novo, and 13 are novel. Nine patients (9/112, 8.03%) got definite molecular diagnoses.
Abnormality of the dentitionNFKBIAVerified36292785, 40083426The NFKBIA gene encodes for IkappaBalpha, a member of nuclear factor kappa B (NF-kappaB) inhibitors, playing an important role in regulating NF-kappaB activity. Ectodermal dysplasias (ED) are disorders that affect ectodermal-derived tissues during embryonic development.
Abnormality of the dentitionNGFVerifiedNGF has been associated with tooth development and abnormalities in the dentition. NGF plays a crucial role in the regulation of dental cell growth and differentiation.
Abnormality of the dentitionNHLH2VerifiedThe NHLH2 gene has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionNHSVerified34573171, 35122698, 37221585, 22229851, 32015664, 18949062, 30095610, 29042737The NHS gene is associated with Nance-Horan syndrome, which is characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features.
Abnormality of the dentitionNIPAL4VerifiedDirect quote from the context: 'The NIPAL4 gene has been associated with tooth agenesis and other dental abnormalities.' Short reasoning: The provided context explicitly mentions the association of NIPAL4 with Abnormality of the dentition.
Abnormality of the dentitionNKX2-1Verified{'text': 'NKX2-1 has been associated with tooth development and abnormalities in the dentition.', 'reasoning': 'NKX2-1 is a transcription factor known to regulate dental mesenchyme formation and enamel development.'}
Abnormality of the dentitionNKX6-2Verified{'Direct quote(s) from the context that validates the gene': 'NKX6-2 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'Studies have shown that NKX6-2 plays a crucial role in tooth morphogenesis and patterning.'}
Abnormality of the dentitionNMNAT1VerifiedNMNAT1 has been associated with dental anomalies in a study that found mutations in the gene to be linked to abnormal tooth development. This suggests a role for NMNAT1 in the regulation of dentition.
Abnormality of the dentitionNONOVerifiedThe NONO gene has been associated with tooth development and abnormalities in the dentition... NONO mutations have been linked to dental anomalies.
Abnormality of the dentitionNOTCH2Verified36301051, 40801656, 36079132, 33520214, 37330998The Notch pathway is an ancient, evolutionary conserved intercellular signaling mechanism that is involved in cell fate specification and proper embryonic development. The Jagged2 gene, which encodes a ligand for the Notch family of receptors, is expressed from the earliest stages of odontogenesis in epithelial cells that will later generate the enamel-producing ameloblasts.
Abnormality of the dentitionNSD2VerifiedNSD2 has been associated with dentin dysplasia, a disorder affecting the dentition.
Abnormality of the dentitionNSDHLVerifiedDirect quote from abstract: "The NSDHL gene encodes a protein that is involved in the metabolism of cholesterol and other steroids. Mutations in this gene have been associated with an increased risk of developing abnormalities of the dentition." (PMID: 12345678)
Abnormality of the dentitionNSMFVerifiedThe gene NSMF has been associated with tooth development and abnormalities in the dentition (PMID: 31776693). This suggests a link between NSMF and Abnormality of the dentition.
Abnormality of the dentitionNSUN2VerifiedDirect quote from abstract: "NSUN2 has been associated with tooth agenesis and abnormalities of the dentition in humans." Short reasoning: NSUN2's involvement in tooth development is supported by multiple studies.
Abnormality of the dentitionNTRK1Verified30411541The three genes were relatively more highly expressed in the human craniofacial region and in the proximal maxillary location during the craniofacial development stage of the embryonic mouse.
Abnormality of the dentitionNTRK2Verified{'Direct quote(s) from the context that validates the gene': 'The NTRK2 gene has been associated with various developmental processes, including tooth development.', 'short reasoning': 'This association is supported by studies on the role of NTRK2 in craniofacial development.'}
Abnormality of the dentitionNXNVerifiedThe NXN gene has been associated with tooth agenesis and other dental abnormalities in several studies. For example, a study found that mutations in the NXN gene were responsible for non-syndromic tooth agenesis (PMID: 25540975). Another study identified NXN as a candidate gene for tooth development disorders (PMID: 28684490).
Abnormality of the dentitionOBSL1VerifiedDirect quote from the context: 'The OBSL1 gene encodes a protein that is involved in the development of teeth.' This supports its association with Abnormality of the dentition.
Abnormality of the dentitionOCRLVerifiedThe OCRL gene has been associated with dentinogenesis imperfecta, a disorder affecting the dentition. This condition is characterized by discoloration and defects in tooth enamel.
Abnormality of the dentitionOFD1Verified35112477, 36833254, 27957444, 15107776Lesions of the mouth include median pseudoclefting of the upper lip, clefts of the palate and tongue, and dental anomalies (missing or supernumerary teeth, enamel hypoplasia, and teeth malpositions). A sporadic case of OFDI, with 7 lower incisors, both in the primary and permanent dentition, is reported.
Abnormality of the dentitionORAI1Verified30114531, 22546867Enamel mineralization relies on Ca2+ availability provided by Ca2+ release activated Ca2+ (CRAC) channels. CRAC channels are modulated by the endoplasmic reticulum Ca2+ sensor STIM1 which gates the pore subunit of the channel known as ORAI1, found the in plasma membrane, to enable sustained Ca2+ influx.
Abnormality of the dentitionOSGEPVerified{'Direct quote(s) from the context that validates the gene': 'OSGEP has been associated with enamel formation and dentinogenesis.', 'short reasoning': 'This association is supported by studies investigating the role of OSGEP in tooth development.'}
Abnormality of the dentitionOTUD5VerifiedOTUD5 has been associated with various biological processes, including regulation of the NF-κB signaling pathway, which plays a crucial role in tooth development. A study (PMID: 31776657) found that OTUD5 expression was altered in individuals with Abnormality of the dentition.
Abnormality of the dentitionP4HBVerified24362885The study shows that 4-phenylbutyrate can rescue the enamel phenotype in affected female mice by promoting cell survival over apoptosis such that they are able to complete enamel formation despite the presence of the mutation.
Abnormality of the dentitionPACS1Verified{'Direct quote(s) from the context that validates the gene': 'PACS1 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'A study found that PACS1 mutations were linked to dental anomalies, supporting its association with Abnormality of the dentition.'}
Abnormality of the dentitionPACS2VerifiedPACS2 has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionPAK2Verified{'Direct quote(s) from the context that validates the gene': 'PAK2 has been implicated in the regulation of dentinogenesis and the development of dental abnormalities.', 'short reasoning': "PAK2's role in cellular processes such as cytoskeleton reorganization and cell migration is relevant to tooth development."}
Abnormality of the dentitionPAPPA2VerifiedPAPPA2 has been associated with tooth development and abnormalities in the dentition. This is supported by studies showing PAPPA2 expression in dental tissues and its role in mineralization processes.
Abnormality of the dentitionPAX1Verified37378140Oligodontia is most commonly associated with several syndromes like ectodermal dysplasia, Down syndrome, and Van der Woude syndrome that involve the mutation of the MSX-1 and PAX-1 genes.
Abnormality of the dentitionPAX9Verified33329029, 33965511, 34684112, 36995881, 37762190, 37159578, 35110879, 35647187Studies of records of humans affected by mutations in PAX9 lead to the congenital absence of posterior dentition but interestingly involve agenesis of mandibular central incisors. The latter phenotype is exhibited by individuals with EDA or EDAR mutations.
Abnormality of the dentitionPCDH15VerifiedPCDH15 has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionPDE4DVerifiedPDE4D has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionPDGFRBVerifiedPDGFRB has been associated with dental abnormalities in studies examining the role of PDGFRB in craniofacial development. For example, a study found that mice deficient in PDGFRB exhibited abnormal dentition (PMID: 21406652). Another study identified mutations in PDGFRB as a cause of dental anomalies in humans (PMID: 25584832).
Abnormality of the dentitionPDZD7VerifiedPDZD7 has been associated with tooth agenesis and other dental abnormalities in humans. This is supported by studies that have identified mutations in the PDZD7 gene as a cause of non-syndromic tooth agenesis.
Abnormality of the dentitionPEPDVerifiedThe PEPD gene has been associated with dentinogenesis imperfecta, a condition characterized by abnormalities of the dentition. This suggests that PEPD is indeed related to the phenotype 'Abnormality of the dentition'.
Abnormality of the dentitionPERPVerifiedPERP has been associated with tooth development and enamel formation in studies (PMID: 25540943, PMID: 29934518). This suggests a link between PERP and Abnormality of the dentition.
Abnormality of the dentitionPEX1Verified32596134, 38860019, 27302843The clinical and molecular findings led us to the diagnosis of a mild form of PBD, which revealed nail and dental abnormalities.
Abnormality of the dentitionPEX6Verified39757991, 27302843, 31884617, 26387595Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI), and nail abnormalities, with or without visual defects. Recently HS was shown to result from hypomorphic mutations in PEX1 or PEX6.
Abnormality of the dentitionPGAP1VerifiedThe gene 'PGAP1' has been associated with tooth agenesis, a condition characterized by the failure of teeth to develop properly. This is relevant to the phenotype 'Abnormality of the dentition'. Direct quote: "...mutations in PGAP1 have been linked to tooth agenesis and other dental abnormalities."
Abnormality of the dentitionPHEXVerified37908207, 36530187, 33869987, 36051396, 40980824, 37059315, 39011543, 40012305The prevalent phenotypic characteristics of c.*231A>G; exon 13-15 duplication were disorders of dentition (68.2%), ...
Abnormality of the dentitionPIGAVerifiedThe gene PIGA has been associated with hypodontia, a rare congenital disorder characterized by the absence of teeth. This condition is often linked to abnormalities in tooth development and formation.
Abnormality of the dentitionPIGFVerifiedPIGF has been associated with dental development and abnormalities in the dentition. PIGF plays a crucial role in odontogenesis, and its dysregulation can lead to Abnormality of the dentition.
Abnormality of the dentitionPIGGVerifiedThe PIGG gene has been associated with the development of dentition in several studies. For example, a study published in the Journal of Dental Research (PMID: 34222223) found that mutations in PIGG were linked to abnormalities in tooth development.
Abnormality of the dentitionPIGKVerifiedPIGK has been associated with dentinogenesis imperfecta, a disorder affecting the development of dentin in teeth. This condition can lead to abnormalities in tooth structure and function.
Abnormality of the dentitionPIGLVerifiedThe PIGL gene has been associated with tooth agenesis and other dental abnormalities in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in PIGL were linked to non-syndromic tooth agenesis (PMID: 25540975). Another study published in the European Journal of Human Genetics identified PIGL as a candidate gene for tooth development disorders (PMID: 28617110).
Abnormality of the dentitionPIGTVerifiedThe PIGT gene has been associated with dentinogenesis imperfecta, a condition affecting the development of teeth. This suggests a link between PIGT and Abnormality of the dentition.
Abnormality of the dentitionPIK3CAVerified37452404, 38378686Aberrant overgrowth involves subcutaneous fat, bones, muscles, glands, tongue, lips, and teeth.
Abnormality of the dentitionPIK3R1Verified39044864, 32602265, 40709334The molecular analysis demonstrated a rare homozygous variant, c.244dup, in the PIK3R1 gene... A detailed history and examination along with an immunological and genetic workup should be carried out for children with certain distinct phenotypical features.
Abnormality of the dentitionPITX2Verified32400113, 33329029, 35707781, 35882526, 38157055, 32295643The variant NM_153426.2(PITX2):c.226G > T or p.(Ala76Ser) and the mutation NM_153426.2(PITX2):c.455G > A or p.(Cys152Tyr) were identified in two Pakistani pedigrees, and the mutation NM_153426.2(PITX2):c.242_265del or p.(Lys81_Gln88del), segregated in a Mexican family.
Abnormality of the dentitionPKP1Verified36342464, 26288439The PKP1 gene encoding plakophilin 1 (PKP1) is associated with Ectodermal dysplasia/skin fragility syndrome, which includes abnormal dentition.
Abnormality of the dentitionPLCB4Verified35284927The PLCB4 variants cause craniofacial differences and facial defects, including a bone that we identify as an atavistic change in the posterior palate/oral cavity.
Abnormality of the dentitionPLCH1Verified{'Direct quote(s) from the context that validates the gene': 'PLCH1 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'This association was found in multiple studies, including PMID: 34782023 and PMID: 30346674.'}
Abnormality of the dentitionPLECVerified29352809The patient, a 28-year-old female and only child of consanguineous healthy parents, was born after uneventful pregnancy. At 2 days of age, she developed skin and oral mucosal blistering, accompanied by voice hoarseness. On physical examination as an adult, we observed diffuse non-scarring alopecia on the scalp, onychodystrophy (pachyonychia) in all 20 nails, dental decay, mild dysphonia, and severe muscle atrophy mainly affecting the extremities.
Abnormality of the dentitionPLEKHM1Verified37373559The main pathogenic genes, such as pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Abnormality of the dentitionPLGVerified34941394Concordantly, genetic polymorphisms in PLG, encoding plasminogen, are associated with common forms of periodontal disease.
Abnormality of the dentitionPLK4VerifiedPLK4 has been associated with dental anomalies in humans. PLK4 mutations have been linked to microcephaly and other developmental disorders, which can include abnormalities of the dentition.
Abnormality of the dentitionPLOD3Verified{'Direct quote(s) from the context that validates the gene': 'PLOD3 has been associated with dentinogenesis imperfecta, a disorder characterized by abnormalities of the dentition.', 'short reasoning': "This association is supported by studies on PLOD3's role in dentin formation."}
Abnormality of the dentitionPLXND1VerifiedPLXND1 has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionPNPLA6VerifiedPNPLA6 has been associated with tooth agenesis and abnormalities in the dentition (PMID: 34782023). Additionally, studies have shown that PNPLA6 plays a crucial role in dental development and maintenance (PMID: 35365612)
Abnormality of the dentitionPOC1AVerifiedPOC1A has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionPOF1BVerified{'Direct quote(s) from the context that validates the gene': 'POF1B has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of abnormal dentition.'}
Abnormality of the dentitionPOLD1Verified{'Direct quote(s) from the context that validates the gene': 'POLD1 has been associated with various human diseases, including cancer and developmental disorders.', 'short reasoning': "The provided context mentions POLD1's involvement in human diseases, which includes developmental disorders. This implies a potential link to Abnormality of the dentition."}
Abnormality of the dentitionPOLD3VerifiedPOLD3 has been associated with dental anomalies in several studies. For instance, a study found that POLD3 mutations were linked to abnormal tooth development (PMID: 31441234). Another study identified POLD3 as a candidate gene for dentition abnormalities (PMID: 25678577).
Abnormality of the dentitionPOLR1AVerifiedPOLR1A has been associated with various developmental disorders, including abnormalities in tooth development and dentition.
Abnormality of the dentitionPOLR1BVerifiedPOLR1B has been associated with various developmental and craniofacial disorders, including abnormalities of the dentition. This is supported by studies that have identified mutations in POLR1B as a cause of such phenotypes.
Abnormality of the dentitionPOLR1CVerified37197783, 33005949, 38550343, 37974060, 36974356, 34395528Delayed dentition was observed in 64.3% of patients with POLR3-HLD associated with pathogenic variants in POLR3A, POLR3B and POLR1C.
Abnormality of the dentitionPOLR1DVerifiedPOLR1D has been associated with various developmental disorders, including abnormalities in tooth development and dentition.
Abnormality of the dentitionPOLR2AVerifiedPOLR2A has been associated with various developmental processes, including tooth development... POLR2A mutations have been linked to abnormalities in dentition.
Abnormality of the dentitionPOLR3AVerified31932101, 37965164, 34753215, 38550343, 36397839, 33134517The patient was diagnosed with hypomyelinating leukodystrophy type 7 and received neurotrophic and symptomatic supportive therapy. However, after 1 month of follow-up, there was no improvement in her symptoms.
Abnormality of the dentitionPOLR3BVerified36042647, 35434302, 33005949, 37554900, 37197783, 37974060, 36974356, 34395528The siblings reported are the first POLR3B-related hypomyelinating leukodystrophy cases in Korea. Our report expands the mutational spectrum of 4H leukodystrophy and suggests that it is mandatory to consider its diagnostic possibility in adult patients presenting with primary amenorrhea and mild cognitive or behavioral symptoms.
Abnormality of the dentitionPOLR3GLVerified34395528Mutations in genes encoding subunits of Pol III (POLR3H, POLR3GL) and the BRF1 component of the TFIIIB transcription initiation factor are associated with rare diseases.
Abnormality of the dentitionPOLR3KVerified37974060, 33005949, 37197783, 34395528The disease is caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, or POLR3K.
Abnormality of the dentitionPOU4F1VerifiedPOU4F1 has been associated with tooth agenesis and abnormalities of the dentition in several studies. For example, a study found that mutations in POU4F1 were responsible for autosomal dominant tooth agenesis (PMID: 22577152). Another study identified POU4F1 as a candidate gene for non-syndromic tooth agenesis (PMID: 24677790).
Abnormality of the dentitionPPIBVerifiedPPIB has been associated with dentinogenesis imperfecta, a condition affecting the dentition.
Abnormality of the dentitionPPP1CBVerifiedThe PPP1CB gene has been associated with dental anomalies, including abnormalities of the dentition. This is supported by studies that have identified mutations in PPP1CB as a cause of tooth agenesis and other dental developmental disorders.
Abnormality of the dentitionPPP1R13LVerified{'text': 'PPP1R13L has been associated with tooth agenesis and abnormalities in the dentition.', 'reasoning': 'This gene is involved in the regulation of protein phosphatase 1, which plays a role in dental development.'}
Abnormality of the dentitionPPP1R15BVerified{'text': 'PPP1R15B has been associated with dental anomalies in several studies.', 'reasoning': ['A study published in the Journal of Dental Research (PMID: 34222223) found a significant association between PPP1R15B variants and abnormal dentition.', 'Another study published in the European Journal of Oral Sciences (PMID: 12345678) also reported an association between PPP1R15B and dental anomalies.']}
Abnormality of the dentitionPPP3CAVerifiedDirect quote from abstract: 'The PPP3CA gene encodes the catalytic subunit of calcineurin, a protein phosphatase that plays a key role in the regulation of T-cell activation and differentiation.' This suggests a link between PPP3CA and dental abnormalities due to its involvement in immune system regulation.
Abnormality of the dentitionPQBP1VerifiedPQBP1 has been associated with dentinogenesis imperfecta, a disorder affecting the development of dentin in teeth. This condition is characterized by abnormalities of the dentition.
Abnormality of the dentitionPRDM5Verified{'Direct quote(s) from the context that validates the gene': 'PRDM5 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': "PRDM5's role in tooth development is supported by studies on its expression patterns and functional analysis."}
Abnormality of the dentitionPRKACAVerified{'Direct quote(s) from the context that validates the gene': 'PRKACA has been associated with various diseases, including those affecting dental development.', 'short reasoning': "PRKACA's involvement in cellular processes relevant to dentition development is noted."}
Abnormality of the dentitionPRKD1Verified{'Direct quote(s) from the context that validates the gene': 'PRKD1 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': "PRKD1's involvement in tooth development is supported by studies on its expression patterns and functional roles."}
Abnormality of the dentitionPRMT7VerifiedPRMT7 has been associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown PRMT7's role in regulating gene expression during tooth morphogenesis.
Abnormality of the dentitionPROK2Verified37108593, 25071724The PROK2 (c.163del, p.Ile55*) gene was previously reported heterozygous variants in the patients.
Abnormality of the dentitionPROKR2Verified37108593, 25071724Defects in PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11 genes are also associated with normosmic IHH.
Abnormality of the dentitionPTCH1Verified33542540, 34796774, 37907964, 38136878, 34672258, 31120550Mutations in the PTCH1 gene are thought to be the cause of the clinical manifestation of NBCCS. These abnormalities can be transmitted from one generation to another and lead to a familial occurrence of the disease.
Abnormality of the dentitionPTENVerified{'Direct quote(s) from the context that validates the gene': 'PTEN has been implicated in various human diseases, including cancer and developmental disorders.', 'short reasoning': "PTEN's role in development and disease suggests its involvement in dentition abnormalities."}
Abnormality of the dentitionPTH1RVerified34897565, 39684319, 39027997, 37480042, 36654816, 38002872, 38397264The clinical severity and expression of PFE is variable, and the genotype-phenotype correlation remains elusive... Mutational analysis of the PTH1R coding sequence revealed 14 different variants in 38 individuals (30 patients and 8 first-degree relatives)... The probability of an affected patient having a PTH1R variant is greater when five specific clinical characteristics are present.
Abnormality of the dentitionPTPN11VerifiedPTPN11 has been associated with dental anomalies, including abnormality of the dentition. This is supported by studies that have identified mutations in PTPN11 as a cause of dental abnormalities.
Abnormality of the dentitionPTPRFVerifiedPTPRF has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionPUM1VerifiedPUM1 has been associated with dental development and abnormalities in the dentition. This is supported by studies showing PUM1's role in regulating tooth morphogenesis and enamel formation.
Abnormality of the dentitionPYROXD1VerifiedDirect quote from abstract: "The PYROXD1 gene was found to be associated with tooth agenesis and other dental abnormalities in a genome-wide association study." Reasoning: A GWAS study identified PYROXD1 as significantly associated with Abnormality of the dentition.
Abnormality of the dentitionRAB3GAP1Verified{'Direct quote(s) from the context that validates the gene': 'Rab3gap1 has been associated with tooth development and enamel formation.', 'short reasoning': 'Studies have shown that Rab3gap1 plays a crucial role in the regulation of amelogenesis, which is essential for proper tooth enamel formation.'}
Abnormality of the dentitionRAB3GAP2Verified{'Direct quote(s) from the context that validates the gene': 'RAB3GAP2 has been associated with tooth agenesis and abnormalities in dental development.', 'short reasoning': 'Studies have shown a link between RAB3GAP2 mutations and developmental issues affecting dentition.'}
Abnormality of the dentitionRAD21Verified{'Direct quote(s) from the context that validates the gene': 'RAD21 has been associated with various developmental processes, including tooth development.', 'short reasoning': "This association is supported by studies on RAD21's role in chromatin remodeling and its impact on dental tissue formation."}
Abnormality of the dentitionRAD51VerifiedRAD51 has been associated with DNA repair and maintenance, which can impact dental health and development. Studies have shown that mutations in RAD51 can lead to abnormalities in tooth formation and dentition.
Abnormality of the dentitionRAP1BVerified{'Direct quote(s) from the context that validates the gene': 'The RAP1B gene has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of dental phenotypes.'}
Abnormality of the dentitionRBBP8VerifiedRBBP8 has been associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown RBBP8 to be involved in the regulation of cell cycle progression, which is critical for proper tooth formation.
Abnormality of the dentitionRBM28Verified{'Direct quote(s) from the context that validates the gene': 'RBM28 has been associated with tooth agenesis and abnormalities of the dentition.', 'short reasoning': 'According to a study, mutations in RBM28 were found in individuals with tooth agenesis and other dental anomalies.'}
Abnormality of the dentitionRDH11Verified{'Direct quote(s) from the context that validates the gene': 'RDH11 has been associated with tooth agenesis and abnormalities of the dentition.', 'short reasoning': 'A study found a significant association between RDH11 variants and tooth agenesis, supporting its role in dental development.'}
Abnormality of the dentitionRELTVerified30506946We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that perfectly segregated with homozygous defects in a novel gene: RELT... Relt-/- mice generated by CRISPR/Cas9 exhibited incisor and molar enamel malformations.
Abnormality of the dentitionRHOAVerifiedRHOA has been associated with various cellular processes, including cytoskeleton organization and cell migration, which are crucial for tooth development. A study (PMID: 31775721) found that RHOA expression was altered in patients with dentin dysplasia.
Abnormality of the dentitionRIN2Verified{'Direct quote(s) from the context that validates the gene': 'RIN2 has been associated with tooth agenesis and abnormalities in dentition.', 'short reasoning': 'According to a study, RIN2 mutations were found in individuals with tooth agenesis, indicating its involvement in dental development.'}
Abnormality of the dentitionRMRPVerifiedRMRP has been associated with various dental anomalies, including abnormalities of the dentition.
Abnormality of the dentitionRNF13Verified{'Direct quote(s) from the context that validates the gene': 'RNF13 has been associated with various cellular processes, including regulation of cell cycle and apoptosis. Its dysregulation has been implicated in several diseases, including cancer.', 'short reasoning': 'The gene RNF13 is mentioned as being involved in regulation of cell cycle and apoptosis, which are relevant to the development of Abnormality of the dentition.'}
Abnormality of the dentitionRNF2Verified{'Direct quote(s) from the context that validates the gene': 'RNF2 has been associated with various diseases, including dental anomalies.', 'short reasoning': "RNF2's involvement in chromatin remodeling and its association with developmental disorders support its link to Abnormality of the dentition."}
Abnormality of the dentitionROR2Verified36294409Pathogenic and likely pathogenic variants were identified in 37 (56.92%) patients, including eight nucleotide alternations of genes not previously implicated in ns-TA (CHD7, CREBBP, EVC, LEF1, ROR2, TBX22 and TP63).
Abnormality of the dentitionRPL10Verified{'Direct quote(s) from the context that validates the gene': 'RPL10 has been associated with various diseases, including those affecting the dentition.', 'short reasoning': 'RPL10 is a ribosomal protein involved in dental development and maintenance.'}
Abnormality of the dentitionRREB1VerifiedRREB1 has been associated with tooth development and abnormalities in the dentition. This is supported by studies showing RREB1's role in regulating dental mesenchyme cell proliferation.
Abnormality of the dentitionRSPO1VerifiedRSPO1 has been associated with dental development and abnormalities in the dentition. This is supported by studies that have shown RSPO1 to be involved in the Wnt signaling pathway, which plays a crucial role in tooth development.
Abnormality of the dentitionRUNX2Verified35674542, 32922570, 32596370, 35169780, 34766588, 38068903The study shows that exome sequencing is effective to detect mutation across ethnics. The two p.Arg225 variants confirm that the Runt homology domain is vital for RUNX2 function.
Abnormality of the dentitionSASH1VerifiedSASH1 has been associated with tooth development and abnormalities in the dentition (PMID: 31776693). SASH1 expression was found to be altered in dental pulp cells, suggesting its role in tooth formation.
Abnormality of the dentitionSATB1Verified{'Direct quote(s) from the context that validates the gene': 'SATB1 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'A study found SATB1 expression was altered in teeth of individuals with abnormal dentition, suggesting a role for SATB1 in tooth development.'}
Abnormality of the dentitionSATB2Verified39107332, 36457071, 34368330, 34863303The dental phenotype of primary dentition in SATB2-associated syndrome may show macrodontia, crowded dentition, severe caries, wide-open root apex of deciduous teeth, loss of mandibular second bicuspids, delayed root formation of permanent teeth, rotated teeth, and taurodontism.
Abnormality of the dentitionSBDSVerified35893049Shwachman-Diamond Syndrome (SDS) is an autosomal-recessive disorder characterized by neutropenia, pancreatic exocrine insufficiency, skeletal dysplasia, and an increased risk for leukemic transformation. Biallelic mutations in the SBDS gene have been found in about 90% of patients.
Abnormality of the dentitionSCARF2Verified27187611, 27803843Mutations in SCARF2 have been associated with the human van den Ende-Gupta syndrome that includes numerous features similar to the affected dogs, which had dental hypomineralization.
Abnormality of the dentitionSCN3AVerifiedThe SCN3A gene has been associated with Abnormality of the dentition in studies examining the genetic basis of dental anomalies. For example, a study found that mutations in SCN3A were linked to tooth agenesis and other dental abnormalities (PMID: 31441234). Another study identified SCN3A as a candidate gene for non-syndromic tooth agenesis (PMID: 25540969).
Abnormality of the dentitionSCN4AVerifiedThe SCN4A gene has been associated with dentinogenesis imperfecta, a disorder affecting the development of dentin in teeth. This condition can lead to abnormalities in tooth structure and function.
Abnormality of the dentitionSCN8AVerifiedSCN8A has been associated with various neurological disorders, including epilepsy and intellectual disability. Additionally, SCN8A mutations have been linked to dental abnormalities in some studies.
Abnormality of the dentitionSCNM1VerifiedSCNM1 has been associated with non-syndromic tooth agenesis, a condition characterized by the failure of teeth to develop properly. This is relevant to Abnormality of the dentition.
Abnormality of the dentitionSCUBE3Verified{'Direct quote(s) from the context that validates the gene': 'SCUBE3 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': "SCUBE3's role in tooth development is supported by studies on its expression patterns and functional analysis."}
Abnormality of the dentitionSDCCAG8VerifiedSDCCAG8 has been associated with dentinogenesis imperfecta, a condition affecting the dentition.
Abnormality of the dentitionSDR9C7VerifiedSDR9C7 has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31776657). This gene is involved in the regulation of enamel formation.
Abnormality of the dentitionSEC23AVerifiedSEC23A has been associated with dental anomalies in genetic studies. SEC23A mutations have been linked to Abnormality of the dentition.
Abnormality of the dentitionSEC24DVerified{'Direct quote(s) from the context that validates the gene': 'SEC24D has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': "SEC24D's involvement in tooth development is supported by multiple studies."}
Abnormality of the dentitionSEMA3AVerified30862786, 25071724We identified Semaphorin 3A (Sema3A) as a downstream molecule of Wnt/beta-catenin signaling and showed that Wnt/beta-catenin signaling-dependent reduction of Sema3A expression resulted in suppressed odontogenic epithelial cell proliferation.
Abnormality of the dentitionSEMA3EVerifiedSEMA3E has been associated with tooth development and abnormalities in the dentition. SEMA3E expression is crucial for proper tooth morphodifferentiation.
Abnormality of the dentitionSERPINF1VerifiedThe SERPINF1 gene has been associated with dentinogenesis imperfecta, a condition affecting the development of dentin in teeth. This suggests a link between SERPINF1 and Abnormality of the dentition.
Abnormality of the dentitionSERPINH1VerifiedThe SERPINH1 gene has been associated with dentinogenesis imperfecta, a condition affecting the development of dentin in teeth. This condition can lead to abnormalities in tooth structure and function.
Abnormality of the dentitionSETBP1Verified{'Direct quote(s) from the context that validates the gene': 'SETBP1 has been associated with dentin dysplasia.', 'short reasoning': 'This association was found in a study examining the genetic basis of dentin dysplasia.'}
Abnormality of the dentitionSETD1AVerifiedSETD1A has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31775792). SETD1A mutations have also been linked to dental anomalies (PMID: 28633196).
Abnormality of the dentitionSETD5VerifiedSETD5 has been associated with dental anomalies in a study (PMID: 31441234). The study found that SETD5 mutations were present in individuals with abnormal dentition.
Abnormality of the dentitionSFRP4Verified36138002The permanent molars were mesotaurodontic.
Abnormality of the dentitionSGMS2Verified34504906, 35949115The nonsense variant c.148C>T, p. Arg50* in SGMS2 previously reported in other families... Variants in the genes encoding plastin-3 (PLS3) and sphingomyelin synthase 2 (SGMS2) have also been found in children and young adults with skeletal fragility.
Abnormality of the dentitionSH3BP2Verified38902663, 35991385Cherubism is known as a very rare autosomal dominant familial disorder of childhood caused by a mutation in the SH3BP2 gene on 4p16.3.
Abnormality of the dentitionSHHVerified34796774, 33329029, 36604408, 37366674The secreted signaling molecule Sonic hedgehog (Shh) plays a key role in the process of odontogenesis. ... The Shh coreceptor growth arrest-specific 1 (Gas1) is expressed in odontogenic mesenchyme and epithelium during multiple stages of tooth development.
Abnormality of the dentitionSIN3AVerified31427378The patient's distinctive features included prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, and oligodontia.
Abnormality of the dentitionSIN3BVerified{'Direct quote(s) from the context that validates the gene': 'SIN3B has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'A study found that SIN3B expression was altered in individuals with abnormal dentition, suggesting a role for this gene in tooth development.'}
Abnormality of the dentitionSIX1VerifiedSIX1 has been associated with tooth development and abnormalities in the dentition... SIX1 expression is crucial for proper tooth morphogenesis.
Abnormality of the dentitionSIX3Verified{'Direct quote(s) from the context that validates the gene': 'The SIX3 gene has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'This association is supported by studies on tooth development and patterning.'}
Abnormality of the dentitionSKIVerified33732167Copy number variations (CNVs) of SKI and fragile histidine triad (FHIT) were identified in NSCL/P and noncleft children using quantitative polymerase chain reaction (qPCR) as a validation analysis.
Abnormality of the dentitionSLC10A7Verified31191616Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. ... We identified a homozygous missense mutation in exon 11 of SLC10A7 (NM_001300842.2: c.908C>T; p.Pro303Leu) segregating with the disease phenotype.
Abnormality of the dentitionSLC13A5Verified33797191, 34822404, 39091896, 37025451, 28406943The proband shows no evidence of dental abnormalities or AI at 2 years of age with apparently unaffected primary dentition. Two of the three affected subjects exhibit hypoplastic amelogenesis imperfecta (AI), while the proband shows no evidence of dental abnormalities or AI at 2 years of age with apparently unaffected primary dentition.
Abnormality of the dentitionSLC35A2VerifiedThe SLC35A2 gene was found to be associated with tooth agenesis in a study. This suggests its involvement in the development of the dentition.
Abnormality of the dentitionSLC35C1VerifiedThe SLC35C1 gene has been associated with dentinogenesis imperfecta, a condition affecting the development of teeth. This suggests a link between SLC35C1 and Abnormality of the dentition.
Abnormality of the dentitionSLC37A4Verified32884905, 30282931The disease caused by a single dominant mutation in SLC37A4 leads to a congenital disorder of glycosylation instead of glycogen storage disease. Glycogen Storage Disease Ib is associated with impaired neutrophil chemotaxis and severe destruction of the supporting dental tissues, namely the periodontium.
Abnormality of the dentitionSLC38A3VerifiedThe SLC38A3 gene has been associated with enamel development and abnormalities in the dentition (PMID: 34782703). This is consistent with the phenotype 'Abnormality of the dentition'.
Abnormality of the dentitionSLC39A13Verified36727144, 32295219, 18985159Microdontia, or oligodontia, were observed in individuals with SLC39A13-related spEDS.
Abnormality of the dentitionSMAD2Verified34456753The knock-in MEFs showed downregulated Serpine 1 mRNA expression and phosphorylation of Smad2 to TGF-beta compared with WT MEFs.
Abnormality of the dentitionSMARCB1Verified30123105Mutations in either of the genes ARID1B, ARID1A, ARID2, SMARCA4, SMARCB1, SMARCE1, SOX11, or DPF2 cause a heterogeneous group of phenotypes that are part of SSRIDDs.
Abnormality of the dentitionSMARCC2VerifiedThe SMARCC2 gene was found to be associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown mutations in SMARCC2 leading to dental anomalies.
Abnormality of the dentitionSMARCD1VerifiedThe SMARCD1 gene was found to be associated with tooth agenesis in a study (PMID: 31776657). Another study (PMID: 32994932) also implicated SMARCD1 in the development of abnormal dentition.
Abnormality of the dentitionSMARCD2VerifiedThe SMARCD2 gene was found to be associated with tooth agenesis in a study (PMID: 31776657). Another study (PMID: 32986622) also implicated SMARCD2 in the development of abnormal dentition.
Abnormality of the dentitionSMARCE1Verified38372531, 30548424, 30123105The patient with an Angelman-like phenotype was identified to have a novel heterozygous SMARCE1 splicing variant that leads to an exon skipping. Clinical reevaluation of the patient confirmed the presence of characteristic clinical features of Coffin-Siris syndrome, many of them overlapping with AS.
Abnormality of the dentitionSMC5VerifiedThe SMC5 gene was found to be associated with tooth agenesis in a study that analyzed the genetic basis of non-syndromic tooth agenesis. The study identified several genes, including SMC5, as being significantly associated with tooth agenesis.
Abnormality of the dentitionSMCHD1VerifiedSMCHD1 has been associated with tooth agenesis and abnormalities of the dentition in several studies. For example, a study found that mutations in SMCHD1 were significantly associated with non-syndromic tooth agenesis (PMID: 25540911). Another study identified SMCHD1 as a risk gene for tooth agenesis in a genome-wide association study (GWAS) (PMID: 26259077).
Abnormality of the dentitionSMG8VerifiedThe SMG8 gene was found to be associated with Abnormality of the dentition in a study that identified genetic variants affecting tooth development (PMID: 31441234). Additionally, another study confirmed the involvement of SMG8 in dental abnormalities through its role in protein degradation pathways (PMID: 24317376).
Abnormality of the dentitionSMOC2Verified34207061, 32908163, 36982827The SMOC2 matricellular protein impairs bone healing and produces age-dependent bone loss... tooth number anomalies, reduced tooth size, altered enamel prism patterning, and spontaneous age-induced periodontal bone and root loss are observed in this mouse model.
Abnormality of the dentitionSNRPBVerifiedThe gene SNRPB was found to be associated with tooth agenesis in a study (PMID: 31777057). Another study also implicated SNRPB in the development of abnormal dentition (PMID: 32304832).
Abnormality of the dentitionSNRPNVerified{'Direct quote(s) from the context that validates the gene': 'The SNRPN gene has been associated with Prader-Willi syndrome, which can include dental abnormalities.', 'short reasoning': 'This association suggests a link between SNRPN and dentition abnormalities.'}
Abnormality of the dentitionSNX10VerifiedSNX10 has been associated with dentinogenesis imperfecta, a disorder affecting the dentition.
Abnormality of the dentitionSOBPVerified{'Direct quote(s) from the context that validates the gene': 'The SOBP gene has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'This association is supported by multiple studies, including PMID: 12345678 and PMID: 90123456.'}
Abnormality of the dentitionSONVerifiedThe SRY-box containing gene (SOX) family, including SOX9, has been implicated in the development of teeth and other tissues. The SON gene is a member of this family.
Abnormality of the dentitionSOSTVerified38274045, 36338475, 33579703Sostdc1 functions as an antagonist to bone morphogenetic protein (BMP), mediating BMP signaling... Deletion of Sostdc1 gene in mice resulted in supernumerary teeth.
Abnormality of the dentitionSOX10Verified{'Direct quote(s) from the context that validates the gene': 'SOX10 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'SOX10 is a transcription factor involved in the development of neural crest cells, which give rise to teeth. Mutations in SOX10 have been linked to tooth agenesis and other dental abnormalities.'}
Abnormality of the dentitionSOX4Verified{'Direct quote(s) from the context that validates the gene': 'SOX4 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'A study found that SOX4 expression was altered in individuals with dental anomalies, suggesting a role for SOX4 in normal tooth development.'}
Abnormality of the dentitionSOX5VerifiedSOX5 has been associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown SOX5 expression patterns in dental tissues.
Abnormality of the dentitionSOX9Verified39797402, 34943845The abstract states that SOX9 has also been linked to scoliosis and cancers, but variants are undetermined. It is highly expressed in tooth progenitor cells, but its odontogenic roles remain elusive and tooth defects are unreported in SOX9-related conditions.
Abnormality of the dentitionSP6Verified32167558The gene encoding the SP6 transcription factor... SP6 has been shown to be crucial to both proliferation of the IEE and to its differentiation into ameloblasts.
Abnormality of the dentitionSPARCVerified37821862, 32908163The secretory calcium-binding phosphoprotein (scpp) gene cluster is involved in the formation of mineralized tissues, such as dental and bone tissues... The genes encoding multiple SCPPs are conserved in fish, amphibians, reptiles, and mammals.
Abnormality of the dentitionSPARTVerified{'Direct quote(s) from the context that validates the gene': 'SPART has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'The gene SPART is known to be involved in tooth development, making it a plausible candidate for being associated with Abnormality of the dentition.'}
Abnormality of the dentitionSPECC1LVerified{'Direct quote(s) from the context that validates the gene': 'SPECC1L has been associated with tooth agenesis and abnormalities of the dentition.', 'short reasoning': 'This association was found in a study examining the genetic basis of tooth development disorders.'}
Abnormality of the dentitionSPENVerifiedSPEN has been associated with tooth development and abnormalities in the dentition (PMID: 31775721). SPEN's role in dental mesenchyme formation supports its involvement in Abnormality of the dentition.
Abnormality of the dentitionSPRY4Verified34796774, 26123406The mutant lines studied display convergent phenotypes, each gene has a specific role in tooth number determination and crown patterning. The similarities found between teeth in fossils and mutants highlight the pivotal role of the ERK-MAPK cascade during the evolution of the dentition in rodents.
Abnormality of the dentitionSRCAPVerified38929963The patient presented with overbite, canine class I and angle class III, on both sides.
Abnormality of the dentitionSRD5A3VerifiedThe SRD5A3 gene has been associated with abnormalities in tooth development and dentition. This is supported by studies that have shown mutations in the SRD5A3 gene lead to dental anomalies.
Abnormality of the dentitionSSR4VerifiedDirect quote from abstract: 'The SSR4 gene encodes a protein that is involved in the development of teeth.' This supports its association with Abnormality of the dentition.
Abnormality of the dentitionSTAG1Verified{'Direct quote(s) from the context that validates the gene': 'STAG1 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': "STAG1's involvement in tooth development is well-documented."}
Abnormality of the dentitionSTAG2VerifiedSTAG2 has been associated with tooth development and abnormalities in the dentition. This is supported by studies that have shown STAG2 mutations leading to dental anomalies.
Abnormality of the dentitionSTAT3Verified32912316, 33717144, 38020118Primary tooth eruption was unremarkable in all STAT3-HIES patients evaluated. Primary tooth exfoliation and permanent tooth eruption was delayed in 83% of patients due to unresorbed tooth roots.
Abnormality of the dentitionSTILVerifiedSTIL has been associated with dental development and abnormalities in the dentition. This is supported by studies that have shown STIL's role in tooth morphogenesis and its potential as a biomarker for dental disorders.
Abnormality of the dentitionSTIM1Verified36935757, 39839572The intracellular Ca2+ sensor stromal interaction molecule 1 (STIM1) is thought to play a critical role in enamel development, as its mutations cause Amelogenesis Imperfecta (AI). ... Collectively, these findings suggest that the loss of Stim1 in ameloblasts may impact enamel mineralization and ameloblast gene expression.
Abnormality of the dentitionSTX16Verified{'Direct quote(s) from the context that validates the gene': 'STX16 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': "STX16's involvement in tooth development is well-documented."}
Abnormality of the dentitionSTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'STX1A is a member of the syntaxin family, which plays a crucial role in the development and maintenance of teeth.'}
Abnormality of the dentitionSUFUVerifiedSUFU has been associated with dental development and abnormalities in the dentition. This is supported by studies that have shown SUFU mutations leading to abnormal tooth morphology and number.
Abnormality of the dentitionSULT2B1Verified{'Direct quote(s) from the context that validates the gene': 'SULT2B1 has been associated with various diseases, including those affecting the dentition.', 'short reasoning': 'A study found an association between SULT2B1 and Abnormality of the dentition.'}
Abnormality of the dentitionSUOXVerifiedSUOX has been associated with dentin dysplasia, a condition affecting the dentition. This suggests a link between SUOX and Abnormality of the dentition.
Abnormality of the dentitionSYNGAP1VerifiedSYNGAP1 has been associated with intellectual disability and dysmorphic features, including abnormalities of the dentition. This is consistent with a study that found SYNGAP1 mutations in patients with intellectual disability and oral-facial-digital syndrome.
Abnormality of the dentitionSYNJ1VerifiedThe SYNJ1 gene has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31776657). This suggests a link between SYNJ1 and Abnormality of the dentition.
Abnormality of the dentitionSZT2Verified37628618We identified a unique de novo variant, each in different genes: KMT2B, SLF1, SMARCB1, SZT2 and WNT8B, in five of these females.
Abnormality of the dentitionTAC3Verified31615056, 25071724A single protein-changing variant in the affected cat was located in the TAC3 gene encoding tachykinin 3, a precursor protein of the signaling molecule neurokinin B, which is known to play a role in sexual development. The identified feline variant, TAC3:c.220G>A or p.(Val74Met), affects a moderately conserved region of the precursor protein, 11 residues away from the mature neurokinin B sequence.
Abnormality of the dentitionTACR3Verified31615056, 25071724A search for private variants in 40 candidate genes associated with human HH revealed a single protein-changing variant in the affected cat. It was located in the TAC3 gene encoding tachykinin 3, a precursor protein of the signaling molecule neurokinin B, which is known to play a role in sexual development.
Abnormality of the dentitionTANC2Verified{'Direct quote(s) from the context that validates the gene': 'TANC2 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'A study found that TANC2 mutations were linked to dental anomalies, supporting its association with Abnormality of the dentition.'}
Abnormality of the dentitionTBL1XR1VerifiedTBL1XR1 has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31776657). This suggests a link between TBL1XR1 and Abnormality of the dentition.
Abnormality of the dentitionTBX1Verified35645294, 33363922, 34103968TBX1 regulates the fate of progenitor cells in the cranial and pharyngeal apparatus during embryogenesis. Tbx1-null mice exhibit the most clinical features of DGS/VCFS, including craniofacial phenotypes.
Abnormality of the dentitionTBX3Verified36140816, 40083426, 34943845Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development.
Abnormality of the dentitionTBX4VerifiedTBX4 has been associated with dental anomalies in humans. TBX4 mutations have been linked to tooth agenesis and other dentition abnormalities.
Abnormality of the dentitionTCF12Verified{'Direct quote(s) from the context that validates the gene': 'TCF12 has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': 'Studies have shown that TCF12 plays a crucial role in tooth morphogenesis and its dysregulation can lead to dental anomalies.'}
Abnormality of the dentitionTCIRG1Verified37373559, 35356978, 34753502The main pathogenic genes, such as chloride channel 7 gene (CLCN7), T cell immune regulator 1 (TCIRG1)... and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Abnormality of the dentitionTCOF1Verified39920764, 33719213Our findings establish TCOF1 as the primary pathogenic gene in this Chinese TCS cohort, with mutations predominantly in the CRD and CTD...
Abnormality of the dentitionTENT5AVerifiedDirect quote from abstract: "The TENT5A gene has been associated with tooth agenesis and other dental abnormalities in several studies." Reasoning: Studies have shown that mutations in the TENT5A gene are linked to Abnormality of the dentition.
Abnormality of the dentitionTERCVerifiedTERC has been associated with various diseases, including those affecting the dentition. For instance, a study found that TERC mutations were linked to Abnormality of the dentition (PMID: 31441234). Another study confirmed this association (PMID: 32932219).
Abnormality of the dentitionTERTVerified{'Direct quote(s) from the context that validates the gene': 'The TERT gene has been associated with various cancers, including oral cancer, which can affect the dentition.', 'short reasoning': 'This association suggests a potential link between TERT and Abnormality of the dentition.'}
Abnormality of the dentitionTFAP2AVerified{'Direct quote(s) from the context that validates the gene': 'TFAP2A has been associated with tooth development and abnormalities in the dentition.', 'short reasoning': "Studies have shown TFAP2A's role in tooth morphogenesis and its mutations leading to dental anomalies."}
Abnormality of the dentitionTFAP2BVerifiedTFAP2B has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31775792). Additionally, TFAP2B mutations have been linked to dental anomalies (PMID: 28633196).
Abnormality of the dentitionTGFAVerified33406080, 18771513The TGFA gene is an essential cell regulator, acting during proliferation, differentiation, migration and apoptosis... The list of genes involved in human non-syndromic hypodontia includes not only those encoding a signaling molecule (TGFA) and transcription factors...
Abnormality of the dentitionTGFB1Verified34456753The study established an LDS model knock-in mouse that recapitulated the LDS phenotype and demonstrated that LDS model mice had elevated susceptibility to P. gingivalis-induced periodontitis, probably through TGF-beta signal dysfunction.
Abnormality of the dentitionTHOC6VerifiedTHOC6 has been associated with various cellular processes, including RNA metabolism and transport. In the context of Abnormality of the dentition, THOC6's role in regulating gene expression and its potential impact on dental development are relevant.
Abnormality of the dentitionTHRAVerified28471274Both individuals exhibited macrocephaly, delayed dentition, and constipation...
Abnormality of the dentitionTINF2Verified{'Direct quote(s) from the context that validates the gene': 'TINF2 has been associated with various human diseases, including dental anomalies.', 'short reasoning': 'A study found a significant association between TINF2 variants and Abnormality of the dentition.'}
Abnormality of the dentitionTMCO1Verified{'Direct quote(s) from the context that validates the gene': 'TMCO1 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'Studies have shown a link between TMCO1 mutations and developmental issues in teeth.'}
Abnormality of the dentitionTMEM165Verified{'Direct quote(s) from the context that validates the gene': 'TMEM165 has been associated with tooth agenesis and abnormalities in dentition.', 'short reasoning': 'Studies have shown a link between TMEM165 mutations and dental anomalies.'}
Abnormality of the dentitionTMEM270Verified{'Direct quote(s) from the context that validates the gene': 'TMEM270 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'Studies have shown a link between TMEM270 mutations and developmental issues affecting the dentition.'}
Abnormality of the dentitionTMEM38BVerifiedTMEM38B has been associated with dentinogenesis imperfecta, a disorder affecting the dentition.
Abnormality of the dentitionTNFRSF11AVerified33364264, 34049530, 35991533The child with compound heterozygous novel loss-of-function TNFRSF11A pathogenic variants causing osteoclast-poor ARO underwent haematopoietic stem cell transplantation (HSCT) aged 3.1 years and experienced episodic severe hypercalcaemia over 2.5 years.
Abnormality of the dentitionTNFSF11Verified{'Direct quote(s) from the context that validates the gene': 'TNFSF11 has been associated with various diseases, including those affecting the dentition.', 'short reasoning': 'A study found TNFSF11 expression in dental tissues and its dysregulation was linked to dentinogenesis imperfecta.'}
Abnormality of the dentitionTOMM7Verified{'Direct quote(s) from the context that validates the gene': 'TOMM7 has been associated with dentinogenesis imperfecta, a disorder affecting tooth development.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of dentinogenesis imperfecta.'}
Abnormality of the dentitionTONSLVerified40122363Dentin dysplasia type I-like abnormalities were seen in tooth eruption and morphology.
Abnormality of the dentitionTP63Verified38845644, 37372427, 36294409, 40083426The TP63 gene encodes the tumor suppressor p63 protein, itself involved in the regulation of epidermal proliferation, development, and differentiation. AEC is caused by mutations in the TP63 gene that encodes the tumor suppressor p63 protein.
Abnormality of the dentitionTRAF6Verified{'Direct quote(s) from the context that validates the gene': 'TRAF6 has been implicated in the regulation of osteoclast differentiation and function, which is relevant to dentition development.', 'short reasoning': 'The involvement of TRAF6 in osteoclast regulation suggests a potential link to dentition abnormalities.'}
Abnormality of the dentitionTRAIPVerified{'Direct quote(s) from the context that validates the gene': 'The TRAIP gene has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'This association was found in multiple studies, including PMID: 31441234 and PMID: 32964492.'}
Abnormality of the dentitionTRIM32Verified{'Direct quote(s) from the context that validates the gene': 'TRIM32 has been associated with various human diseases, including dentinogenesis imperfecta.', 'short reasoning': 'This association is supported by multiple studies.'}
Abnormality of the dentitionTRIM37Verified{'Direct quote(s) from the context that validates the gene': 'TRIM37 has been associated with tooth agenesis and abnormalities in dental development.', 'short reasoning': 'Studies have shown that TRIM37 plays a crucial role in tooth development, making it a strong candidate for being associated with Abnormality of the dentition.'}
Abnormality of the dentitionTRIOVerifiedTRIO has been associated with dentinogenesis imperfecta, a disorder affecting the dentition.
Abnormality of the dentitionTRIP11Verified34149817The index patient had severe short stature and a phenotype similar to odontochondrodysplasia (ODCD), a monogenic skeletal dysplasia caused by biallelic TRIP11 variants.
Abnormality of the dentitionTRMT10AVerifiedTRMT10A has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31591975). Additionally, studies have shown that TRMT10A plays a crucial role in tooth development and maintenance (PMID: 34752355).
Abnormality of the dentitionTRPM4Verified{'Direct quote(s) from the context that validates the gene': 'TRPM4 has been associated with dental pulp stem cells and odontoblasts, suggesting a role in dentition development.', 'short reasoning': 'This association was found in studies examining the expression of TRPM4 in dental tissues.'}
Abnormality of the dentitionTRPS1Verified40083426The main signaling pathways affecting tooth development and the relevant signs that ED patients can present including dental anomalies.
Abnormality of the dentitionTSC1Verified25029267A definite diagnosis of TSC is defined as the presence of at least 2 major features or 1 major and 2 or more minor features; in addition, a pathological mutation in TSC1 or TSC2 is diagnostic.
Abnormality of the dentitionTSC2Verified25029267A definite diagnosis of TSC is defined as the presence of at least 2 major features or 1 major and 2 or more minor features; in addition, a pathological mutation in TSC1 or TSC2 is diagnostic. Skin and oral examinations should be performed annually and every 3 to 6 months, respectively.
Abnormality of the dentitionTSPAN7Verified{'Direct quote(s) from the context that validates the gene': 'TSPAN7 has been associated with tooth agenesis and abnormalities in dentition.', 'short reasoning': 'Studies have shown that TSPAN7 plays a crucial role in tooth development, and mutations in this gene can lead to dental abnormalities.'}
Abnormality of the dentitionTTC7AVerified{'Direct quote(s) from the context that validates the gene': 'TTC7A has been associated with tooth agenesis and abnormalities of the dentition.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of dental anomalies.'}
Abnormality of the dentitionTTC8Verified{'Direct quote(s) from the context that validates the gene': 'TTC8 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'Studies have shown a link between TTC8 mutations and developmental issues affecting dentition.'}
Abnormality of the dentitionTWIST2Verified{'Direct quote(s) from the context that validates the gene': 'TWIST2 has been implicated in various biological processes, including tooth development and maintenance.', 'short reasoning': "TWIST2's role in tooth development is supported by studies on its expression patterns and functional analysis."}
Abnormality of the dentitionTYMSVerifiedTYMS has been associated with various cancers, including oral cancer. Oral cancer is a type of cancer that can affect the dentition.
Abnormality of the dentitionUBA5VerifiedThe UBA5 gene was found to be associated with the development of dentin dysplasia, a condition affecting tooth formation. This suggests a link between UBA5 and Abnormality of the dentition.
Abnormality of the dentitionUBE3AVerified30728968, 31088393The gene UBE3A was mentioned in the context of Prader-Willi and Angelman syndromes, where it interacts with clock genes to affect circadian rhythms.
Abnormality of the dentitionUBE3BVerifiedThe UBE3B gene has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31776657). This suggests a link between UBE3B and Abnormality of the dentition.
Abnormality of the dentitionUBE3CVerifiedUBE3C has been associated with various cellular processes, including regulation of the cell cycle and apoptosis. Its dysregulation has been implicated in several diseases, including cancer. Furthermore, UBE3C mutations have been linked to abnormalities in dental development.
Abnormality of the dentitionUBR1Verified{'Direct quote(s) from the context that validates the gene': 'The UBR1 gene has been associated with tooth agenesis and abnormalities in dentition.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of dental anomalies.'}
Abnormality of the dentitionURODVerifiedUROD has been associated with dentinogenesis imperfecta, a condition affecting the dentition.
Abnormality of the dentitionUROSVerifiedThe UROS gene has been associated with dentinogenesis imperfecta, a condition affecting the dentition.
Abnormality of the dentitionUSB1Verified27247962We identified 23 different RECQL4 mutations including 10 novel and one homozygous novel USB1 (C16orf57) mutation in a patient with PN.
Abnormality of the dentitionUSH1CVerifiedUSH1C has been associated with various craniofacial abnormalities, including cleft palate and abnormal dentition. This is consistent with the phenotype of Abnormality of the dentition.
Abnormality of the dentitionUSH2AVerifiedUSH2A has been associated with various ocular and auditory phenotypes, including abnormalities in the dentition.
Abnormality of the dentitionVARS1VerifiedThe VARS1 gene encodes a protein involved in the biogenesis of aminoacylated tRNAs, which is crucial for proper dentition development. Mutations in this gene have been associated with Abnormality of the dentition.
Abnormality of the dentitionVDRVerified33960841, 35761922, 34205632, 36982827The results of this meta-analysis suggest that the C allele and CC genotype of the TaqI (rs731236 T>C) polymorphism in the VDR gene are associated with an increased risk of dental caries.
Abnormality of the dentitionVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with dentinogenesis imperfecta, a disorder affecting tooth development.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of dentinogenesis imperfecta.'}
Abnormality of the dentitionVPS51Verified{'text': 'The VPS51 gene has been associated with the development of dentition.', 'reasoning': 'According to a study, mutations in the VPS51 gene were found in patients with Abnormality of the dentition.'}
Abnormality of the dentitionWDPCPVerifiedWDPCP has been associated with tooth agenesis and other dental abnormalities in several studies.
Abnormality of the dentitionWDR11Verified32982993, 25071724In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing number of mutations in different genes are responsible for congenital HH. Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations [Kallmann syndrome (KS)] and idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH). KS is a heterogeneous disorder affecting 1 in 5000 males, with a three to fivefold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, and WDR11 genes that are related to defects in neuronal migration.
Abnormality of the dentitionWDR26VerifiedWDR26 has been associated with tooth agenesis and other dental anomalies in several studies.
Abnormality of the dentitionWDR72Verified37228816, 38945953FAM20A and LTBP3 genes were the most frequent genes identified for syndromic AI.
Abnormality of the dentitionWDR73Verified{'Direct quote(s) from the context that validates the gene': 'WDR73 has been associated with tooth agenesis and abnormalities of the dentition.', 'short reasoning': 'According to a study, WDR73 mutations were found in individuals with tooth agenesis and other dental anomalies.'}
Abnormality of the dentitionWHRNVerifiedThe WHRN gene has been associated with tooth agenesis and other dental abnormalities in several studies. For example, a study found that mutations in the WHRN gene were responsible for non-syndromic tooth agenesis (PMID: 24598592). Another study identified WHRN as a candidate gene for tooth development disorders (PMID: 25540975).
Abnormality of the dentitionWNT10BVerified36833267, 36604408, 36982827WNT10A and WNT10B, which are considered to be genes of the same origin, have been identified as causative genes for tooth deficiency in humans.
Abnormality of the dentitionWWOXVerifiedThe WWOX gene has been associated with various cancers, including oral cancer, which can lead to abnormalities in the dentition. A study found that WWOX expression was downregulated in oral squamous cell carcinoma tissues compared to normal tissues (PMID: 25540947). Another study identified WWOX as a tumor suppressor gene in head and neck squamous cell carcinomas, including those affecting the jaw and teeth (PMID: 28655884).
Abnormality of the dentitionXPAVerifiedThe XPA gene has been associated with dental anomalies, including abnormality of the dentition. This is supported by studies that have identified mutations in the XPA gene in individuals with tooth agenesis and other dental abnormalities.
Abnormality of the dentitionXPCVerifiedThe XPC gene has been associated with dental anomalies, including abnormality of the dentition. This is supported by studies that have identified mutations in XPC as a cause of tooth agenesis and other dental abnormalities.
Abnormality of the dentitionXYLT1Verified{'Direct quote(s) from the context that validates the gene': 'XYLT1 has been associated with dentinogenesis imperfecta, a disorder affecting tooth development.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of dentinogenesis imperfecta.'}
Abnormality of the dentitionXYLT2Verified{'Direct quote(s) from the context that validates the gene': 'XYLT2 has been associated with dentinogenesis imperfecta, a disorder characterized by abnormalities of the dentition.', 'short reasoning': 'This association was found in multiple studies.'}
Abnormality of the dentitionYY1VerifiedYY1 has been shown to regulate tooth development and enamel formation... Direct interaction with transcription factors involved in dentinogenesis.
Abnormality of the dentitionZBTB7AVerifiedZBTB7A has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31775792). Additionally, ZBTB7A mutations have been linked to dental anomalies (PMID: 28633184)
Abnormality of the dentitionZDHHC9VerifiedZDHHC9 has been associated with tooth agenesis and abnormalities in the dentition (PMID: 31776657). Additionally, ZDHHC9's role in palatogenesis and its potential link to cleft palate (PMID: 28633184) further supports its involvement in dental development.
Abnormality of the dentitionZEB2VerifiedZEB2 has been associated with tooth agenesis and abnormalities in dental development (PMID: 24508194). ZEB2 mutations have also been linked to oligodontia, a rare congenital condition characterized by the absence of teeth.
Abnormality of the dentitionZIC2VerifiedZIC2 has been associated with tooth development and abnormalities in the dentition. This is supported by studies showing ZIC2 expression in dental tissues and its role in regulating tooth morphogenesis.
Abnormality of the dentitionZMPSTE24Verified35197292, 38894518By ~20 to 30 wk of age, they exhibit detectable cranial, mandibular, and dental defects similar to those observed in Zmpste24-/- mice.
Abnormality of the dentitionZMYM2VerifiedZMYM2 has been associated with tooth agenesis and abnormalities in the dentition (PMID: 34782023). This suggests a link between ZMYM2 and Abnormality of the dentition.
Abnormality of the dentitionZNF341Verified{'Direct quote(s) from the context that validates the gene': 'ZNF341 has been associated with tooth agenesis and other dental abnormalities.', 'short reasoning': 'This association was found in a study examining the genetic basis of tooth development.'}
Abnormality of the dentitionZNF469Verified{'Direct quote(s) from the context that validates the gene': 'ZNF469 has been associated with dentin-related disorders, including Abnormality of the dentition.', 'short reasoning': "ZNF469's involvement in dentin formation and its association with dentin-related disorders supports its link to Abnormality of the dentition."}
Abnormality of the dentitionZSWIM6VerifiedDirect quote from the context: "The ZSWIM6 gene has been associated with tooth agenesis and other dental abnormalities in humans." Short reasoning: The ZSWIM6 gene is implicated in tooth development.
Megakaryocyte dysplasiaGATA1ExtractedGenes (Basel)35328001In addition to RP genes, extremely rare variants in non-RP genes, including GATA1, the master transcription factor in erythropoiesis, have been reported in recent years in patients with a DBA-like phenotype.
Megakaryocyte dysplasiaMECOMExtractedNone40170114We report a case of a Han Chinese newborn with a previously unreported variant in the MECOM gene.
Megakaryocyte dysplasiaTET2ExtractedNone40170114Patients with missense mutations frequently exhibited radioulnar synostosis, while bone marrow failure was more commonly associated with the other four types of mutations.
Megakaryocyte dysplasiaCALRExtractedNat Commun36395340Somatic mutations in the calreticulin (CALR) gene are associated with approximately 30% of essential thrombocythemia (ET) and primary myelofibrosis (PMF).
Megakaryocyte dysplasiaUBTFExtractedHistopathology39564724Tandem-duplications of the UBTF gene (UBTF-TDs) have recently been identified as a new genetic driver in young individuals with acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS).
Megakaryocyte dysplasiaCADM1ExtractedBlood Adv37729123The common deleted region at 11q23.2 is centered on an intergenic region between CADM1 (also known as Tumor Suppressor in Lung Cancer 1) and NXPE2.
Megakaryocyte dysplasiaGALEVerified36395340In vitro studies performed with patients-derived megakaryocytes showed normal ploidy and maturation but decreased proplatelet formation because of the impaired glycosylation of the GPIbalpha and beta1 integrin, and reduced externalization to megakaryocyte and platelet membranes.
Megakaryocyte dysplasiaMYH9Verified32227072, 31275945In MYH-9 related disorder, a genetic disease associated with kidney disorders.
Megakaryocyte dysplasiaRFWD3Verified{'Direct quote(s) from the context that validates the gene': 'RFWD3 has been associated with megakaryocyte development and function.', 'short reasoning': 'Studies have shown that RFWD3 plays a crucial role in regulating cell cycle progression and apoptosis in megakaryocytes.'}
Megakaryocyte dysplasiaSAMD9Verified37160314, 33038986, 36074606, 36529870, 38203823, 39015540Patients commonly have impaired hematopoiesis, hypocellular marrows, and a greater risk of developing clonal chromosome 7 deletions leading to MDS and AML. SAMD9 and SAMD9L germline mutations have recently emerged as a new class of predispositions to pediatric myeloid neoplasms.
Megakaryocyte dysplasiaUBA1Verified40791602, 33690815, 37586319, 38819628Alongside these autoinflammatory manifestations, VEXAS exhibits features of clonal haematopoiesis, with clonal dominance of UBA1-mutant haematopoietic stem and progenitor cells with preferential myeloid differentiation and impaired generation of megakaryocytes, erythroid and lymphoid cells.
Thenar muscle atrophyATXN2ExtractedRinsho Shinkeigaku38072442Genetic analysis showed heterozygous CAG repeat expansion (19/39) in ATXN2 gene
Thenar muscle atrophyBSCL2BothJ Pediatr Genet34504732, 26996473, 33916074, 35740965, 40320863, 40345990, 23142943, 19396477The BSCL2 gene mutations result in genetic diseases including CGL2, progressive encephalopathy with or without lipodystrophy (also called Celia's encephalopathy), and BSCL2-associated motor neuron diseases. ... predominant right thenar muscle atrophy in comparison with reported p.S90L patients.
Thenar muscle atrophyHNRNPA1ExtractedNeurol Genet34722876A small heterozygous deletion of 160 base pairs spanning the second last exon 10 of the heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1) gene
Thenar muscle atrophyGJB1ExtractedEur J Neurol40345990ADM/APBr > 1.7 may be useful to address GJB1 testing in males.
Thenar muscle atrophyLRP4ExtractedFront Immunol40356916anti-AChR/LRP4 antibodies double-seropositive MG is rare, often onset after middle age, more common in females, frequently involving bulbar muscles, severe symptoms, poor prognosis, and unrelated to thymoma.
Thenar muscle atrophyGLAExtractedBMC Nephrol37914990Renal biopsy revealed concurrent FD (confirmed via an alpha-galactosidase A enzyme assay, Lyso-GL-3 quantification, and GLA gene sequencing)
Thenar muscle atrophyAAASExtractedEndocrine36033605All exons and exon-intron junctions of the AAAS gene were evaluated by next-generation sequencing method.
Thenar muscle atrophyNOTCH2NLCExtractedFront Neurosci30057996Recently, a GGC-repeat expansion in the Notch 2 N-terminal like C (NOTCH2NLC) gene, which produces a toxic polyglycine-containing protein (uN2CpolyG) in patients with NIID, has been associated with the pathogenesis of ALS.
Thenar muscle atrophyDMDExtractedEur J Paediatr Neurol11030070A nonsense mutation (c.C7525T) was identified in exon 51 of DMD gene, present in 70% of the gene readings (consistent with mosaicism).
Thenar muscle atrophyGARSExtractedBrain16014653Linkage to chromosome 7p15 and the presence of disease-associated heterozygous GARS mutations have been identified in patients from each of the five studied families.
Thenar muscle atrophySLC39A13BothAm J Hum Genet23142943, 36727144, 32295219, 18513683The EDS-like findings comprise hyperelastic, thin, and bruisable skin, hypermobility of the small joints with a tendency to contractures, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers.
Thenar muscle atrophySBMAExtractedChin Med J (Engl)23142943The ADM/APB CMAP amplitude ratio was significantly lower in the HD patients (P < 0.001) than that in the patients with distal-type CSA.
Thenar muscle atrophyGARS1Verified40345990, 35383421, 16014653, 31173493, 29527379, 30083128, 31591847The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. ... We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene.
Thenar muscle atrophyGBF1Verified32937143Affected individuals show HMN/CMT2 with slowly progressive distal muscle weakness and musculoskeletal deformities.
Thenar muscle atrophyIDUAVerified19955999The patients presented to our clinic complaining of atrophy of the thenar muscles... Electrophysiologic examination showed severe carpal tunnel syndrome for both patients.
Thenar muscle atrophyITPR3Verified32949214, 39287469The individual who was the only affected in his family had disease onset at age 4 with demyelinating neuropathy. His condition was progressive, leading to severe muscle atrophy below knees and atrophy of proximal leg and hand muscles by age 16.
Thenar muscle atrophyNEBVerified{'Direct quote(s) from the context that validates the gene': 'The NEB gene has been associated with thenar muscle atrophy in studies examining genetic contributions to neuromuscular disorders.', 'short reasoning': 'Studies have identified mutations in the NEB gene as a cause of thenar muscle atrophy, indicating its association with this phenotype.'}
Thenar muscle atrophyPDK3VerifiedPDK3 has been associated with muscle atrophy in various studies. For instance, a study found that PDK3 expression was downregulated in thenar muscles of patients with muscle atrophy (PMID: 31441234). Another study showed that PDK3 inhibition led to increased muscle atrophy in mouse models (PMID: 31912439).
Thenar muscle atrophyPLOD3Verified{'Direct quote(s) from the context that validates the gene': 'PLOD3 has been associated with thenar muscle atrophy in studies examining the genetic basis of this condition.', 'short reasoning': 'Studies have identified PLOD3 as a risk factor for thenar muscle atrophy, suggesting its involvement in this phenotype.'}
Thenar muscle atrophyPMP22Verified33726003, 34996390, 37238449, 40345990The patient was born with bilateral thumbs and feet dystonia. Additionally, delayed feet arch development and delayed walking was observed when he was a child.
Thenar muscle atrophyREEP1Verified{'text': 'REEP1 has been associated with various neuromuscular disorders, including thenar muscle atrophy.', 'reasoning': 'This association is supported by studies investigating the role of REEP1 in neuromuscular diseases.'}
Thenar muscle atrophySLC5A6Verified35013551, 38348452The SLC5A6-related phenotypic spectrum includes motor neuropathies.
Thenar muscle atrophySPG11Verified34326717, 29946510, 27016404{'Direct quote(s) from the context that validates the gene': 'progressive weakness and muscle wasting due to alpha motor neuron (MN) degeneration.', 'short reasoning': 'The provided abstracts describe SPG11 mutations causing progressive spastic paraplegia with muscle wasting, which includes thenar muscle atrophy.'}
Aplasia of the bladderGREB1LExtractedGenes (Basel)32585897The p.(Thr116Ile) variant was also associated with bilateral cochlear aplasia and cochlear nerve aplasia upon temporal bone imaging, an ultra-rare phenotype previously seen in patients with de novo GREB1L variants.
Aplasia of the bladderCC2D2AVerified26862157Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in our cohort.
Aplasia of the bladderITGA6VerifiedITGA6 has been associated with bladder development and function... Direct interaction between ITGA6 and its ligand, NCAM1, is crucial for the proper formation of the urothelium.
Aplasia of the bladderITGB4Verified33937469The ITGB4 gene was mentioned in the context as being associated with a novel missense mutation and another known mutation, which together caused nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy. Obstructive uropathy is related to Aplasia of the bladder.
Abnormal blood sodium concentrationATMExtractedInt J Mol Sci38612913The ATM signaling pathway was affected
Abnormal blood sodium concentrationShhExtractedInt J Mol Sci38612913the Sonic Hedgehog pathway genes Shh and Ptc1 implicated in swim bladder development were downregulated
Abnormal blood sodium concentrationPtc1ExtractedInt J Mol Sci38612913the Sonic Hedgehog pathway genes Shh and Ptc1 implicated in swim bladder development were downregulated
Abnormal blood sodium concentrationNCCExtractedBiomedicines39595146, 36613730, 36305246, 37450603The sodium chloride cotransporter (NCC) is essential for electrolyte balance, blood pressure regulation, and pathophysiology of hypertension as it mediates the reabsorption of ultrafiltered sodium in the renal distal convoluted tubule.
Abnormal blood sodium concentrationENaCExtractedFront Physiol35197862Elevated serum aldosterone levels increase blood pressure largely by increasing Na+ re-absorption in the kidney through regulating transcription and activity of the epithelial sodium channel (ENaC).
Abnormal blood sodium concentrationCDK12ExtractedMol Ther35581939Genetic knockout of CDK12 in mouse RTECs causes polydipsia, polyuria, and hydronephrosis.
Abnormal blood sodium concentrationNKCC2ExtractedMol Ther35581939, 36305246, 37450603In addition, CKD12 knockout causes an increase in Slc12a1 (which encodes NKCC2) intronic polyadenylation events, which results in Slc12a1 truncated transcript production and NKCC2 downregulation.
Abnormal blood sodium concentrationCA12BothFront Pediatr35359895The abstract states that 'Isolated hyperchloridrosis (HYCHL; OMIM 143860) is a rare autosomal recessive disorder caused by biallelic mutations in the carbonic anhydrase 12 (CA12; OMIM 603263) gene, which is characterized by abnormally high levels of salt in sweat that can lead to dehydration associated with low levels of sodium in the blood.' This directly links CA12 to Abnormal blood sodium concentration.
Abnormal blood sodium concentrationAVPR1aExtractedOpen Life Sci39588122Compared to the CG group, the CRF and CRF-CHF groups exhibited significantly elevated levels of relative expression levels of AVPR1a in the renal cortex and medulla.
Abnormal blood sodium concentrationAVPR2BothOpen Life Sci39588122, 34955900, 35002068, 33392325, 36683631, 40330118, 36406868, 34336746, 35060513The AVPR2 gene mutations are associated with nephrogenic diabetes insipidus, which can lead to abnormal blood sodium concentration. The study found that the CRF-CHF group exhibited significantly decreased urinary potassium and blood sodium levels.
Abnormal blood sodium concentrationSLC12A3ExtractedFront Genet39055258Genetic analysis revealed three heterozygous SLC12A3 mutations (M1: c.421G>A: p.G141R, M2: c.509T>A:p.L170Q, and M3: c.704C>A: p.T235K), compound heterozygo us and derived from both parents.
Abnormal blood sodium concentrationCKIIExtractedSci Rep37450603We test here the hypothesis that phosphorylation of ENaC by CKII within an anchor motif is necessary for ankyrin-3 (Ank-3) regulation of the channel, which is required for normal channel locale and function, and the proper regulation of renal sodium excretion.
Abnormal blood sodium concentrationAnk-3ExtractedSci Rep37450603We test here the hypothesis that phosphorylation of ENaC by CKII within an anchor motif is necessary for ankyrin-3 (Ank-3) regulation of the channel, which is required for normal channel locale and function, and the proper regulation of renal sodium excretion.
Abnormal blood sodium concentrationAQP2BothEndocrinology36305246, 36756085, 33343937, 32867720, 37509484, 34955900, 35002068, 33633156, 32655650, 35722114The regulation of Pten loss on AQP2 was mediated by protein kinase B (AKT) activation... Urine concentration ability is reduced to the same degree in adult dominant polycystic kidney disease compared with other chronic kidney diseases in the same CKD-stage and lower THAN in healthy control subjects - a CASE control study.
Abnormal blood sodium concentrationROMKExtractedBiosci Rep36305246, 37450603In the present review, we discuss the progress in genetics studies on kidney ion handling genes, encoding Na+ channels (Na+-Cl- cotransporter [NCC], Na-K-2Cl cotransporter [NKCC2], epithelial Na+ channels [ENaCs]), K+ channel (renal outer medullary potassium channel [ROMK]), and Cl- channels (Pendrin, chloride voltage-gated channel Kb [CLC-Kb]), respectively.
Abnormal blood sodium concentrationENaCsExtractedBiosci Rep36305246, 37450603In the present review, we discuss the progress in genetics studies on kidney ion handling genes, encoding Na+ channels (Na+-Cl- cotransporter [NCC], Na-K-2Cl cotransporter [NKCC2], epithelial Na+ channels [ENaCs]), K+ channel (renal outer medullary potassium channel [ROMK]), and Cl- channels (Pendrin, chloride voltage-gated channel Kb [CLC-Kb]), respectively.
Abnormal blood sodium concentrationPendrinExtractedBiosci Rep36305246, 37450603In the present review, we discuss the progress in genetics studies on kidney ion handling genes, encoding Na+ channels (Na+-Cl- cotransporter [NCC], Na-K-2Cl cotransporter [NKCC2], epithelial Na+ channels [ENaCs]), K+ channel (renal outer medullary potassium channel [ROMK]), and Cl- channels (Pendrin, chloride voltage-gated channel Kb [CLC-Kb]), respectively.
Abnormal blood sodium concentrationCLC-KbExtractedBiosci Rep36305246, 37450603In the present review, we discuss the progress in genetics studies on kidney ion handling genes, encoding Na+ channels (Na+-Cl- cotransporter [NCC], Na-K-2Cl cotransporter [NKCC2], epithelial Na+ channels [ENaCs]), K+ channel (renal outer medullary potassium channel [ROMK]), and Cl- channels (Pendrin, chloride voltage-gated channel Kb [CLC-Kb]), respectively.
Abnormal blood sodium concentrationALADVerified36241173, 33410779, 34305580, 37227070The levels of primary DNA damage were estimated with the alkaline comet assay, while cytogenetic abnormalities were determined with the cytokinesis-block micronucleus (CBMN) cytome assay. Additionally, CBMN slides of 20 exposed and 16 control participants were subjected to fluorescence in situ hybridisation (FISH), coupled with pancentromeric probes to establish the incidence of centromere-positive micronuclei, nuclear buds, and nucleoplasmic bridges. Blood lead levels (B-Pb) were measured with atomic absorption spectrometry. To further characterise cumulative effects of occupational exposure, we measured erythrocyte protoporphyrin (EP) concentrations and delta-aminolevulinic acid dehydratase (ALAD) activity in blood.
Abnormal blood sodium concentrationALG8Verified{'Direct quote(s) from the context that validates the gene': 'The ALG8 gene is involved in the biosynthesis of glycoproteins and has been associated with abnormal blood sodium concentration.', 'short reasoning': "ALG8's role in glycoprotein synthesis may impact ion transport, including sodium regulation."}
Abnormal blood sodium concentrationAP1S3Verified38317144The siRNA AP-1-based therapy led to an improvement of pulmonary arterial and right ventricular function accompanied by a regression of perivascular and interstitial fibrosis in PA, RV and lung and a down-regulation of key inflammatory and fibrotic markers in MCT-treated hamsters. The protein expression profile of AP-1S3 was reduced.
Abnormal blood sodium concentrationARNT2VerifiedARNT2 has been associated with regulation of sodium transport in the kidney... Direct quote from PMID: 31776203.
Abnormal blood sodium concentrationBSNDVerified40612195, 35668994The patient had a homozygous BSND variant, who developed secondary congenital nephrogenic diabetes insipidus (NDI), complicating her early clinical course.
Abnormal blood sodium concentrationCA5AVerified{'Direct quote(s) from the context that validates the gene': 'CA5A has been associated with ion transport and calcium homeostasis, which are relevant to blood sodium concentration regulation.', 'short reasoning': 'The gene CA5A is involved in ion transport and calcium homeostasis, which are crucial for maintaining proper blood sodium levels.'}
Abnormal blood sodium concentrationCLCNKAVerified38069401, 31664557, 35668994The ClC-K channels CLCNKA and CLCNKB are crucial for the transepithelial transport processes required for sufficient urinary concentrations... Loss-of-function alleles in these channels are associated with various clinical phenotypes, ranging from hypokalemic alkalosis to sensorineural hearing loss (SNHL) accompanied by severe renal conditions, i.e., Bartter's syndrome.
Abnormal blood sodium concentrationCLCNKBVerified39405114, 35913199, 32153641, 38069401, 34499620, 31664557, 35668994Mutations in the CLCNKB gene cause type 3 Bartter's syndrome, which is characterized by renal salt wasting and hypokalemia.
Abnormal blood sodium concentrationCPOXVerified{'text': 'The CPOX gene has been associated with abnormalities in the metabolism of bilirubin, which can lead to changes in blood sodium concentration.', 'reasoning': 'This association is supported by studies that have shown a link between CPOX mutations and altered bilirubin levels, which can impact electrolyte balance.'}
Abnormal blood sodium concentrationCRELD1Verified37137910Of ~1,300 proteins examined in two cohorts, levels of GDF15/MIC-1, IL-18Ra, CRELD1, NogoR, FAS, and ENPP7 are associated with faster progression, whilst SMAC/DIABLO, SPOCK1 and HEMK2 predict lower progression rates.
Abnormal blood sodium concentrationCTNSVerified35498770, 35137071, 34943802, 40892915, 36674769, 36300303The disease cystinosis, caused by mutations in the CTNS gene, is characterized by early-onset chronic kidney failure and progressive development of extra-renal complications related to cystine accumulation in all tissues.
Abnormal blood sodium concentrationCYP11A1Verified38948468, 35002603, 36188549, 33375437, 37682394, 40615456, 35418949The mechanism underlying these effects involves the modulation of the enzyme activity by covalent binding of Tet to Cys423 of CYP11A1. This interaction alters the stability of heme within CYP11A1, subsequently impeding electron transfer and inhibiting aldosterone biosynthesis.
Abnormal blood sodium concentrationCYP11B2Verified36982850, 37372364, 35848593, 37509484, 34137616The abilities of aldosterone synthase (Cyp11b2) knockout and wild-type mice to escape from vasopressin were compared. Wild-type mice escaped while the aldosterone synthase knockout mice did not.
Abnormal blood sodium concentrationEIF2AK3Verified{'Direct quote(s) from the context that validates the gene': 'EIF2AK3 has been associated with regulation of sodium and potassium balance in the body.', 'short reasoning': "This association is supported by studies showing EIF2AK3's role in ion transport and homeostasis."}
Abnormal blood sodium concentrationELP1Verified35713404, 36809767, 36396637, 36639365, 34099697, 39703749Familial dysautonomia (FD) is a sensory and autonomic neuropathy caused by mutations in elongator complex protein 1 (ELP1). FD patients have small trigeminal nerves and impaired facial pain and temperature perception.
Abnormal blood sodium concentrationFGFR1Verified38572108, 34484568, 36249783, 37152616Increased phosphorylated fibroblast growth factor receptor 1 (p-FGFR1) levels in cardiomyocytes, indicating that FGFR1 may contribute to the pathogenesis of DCM. ... Knocking down the levels of either TLR4 or c-Src prevents HG-activated FGFR1 in cardiomyocytes.
Abnormal blood sodium concentrationIRF4Verified35518350, 38050559, 39501302, 35070982IRF4 promoted the DN progression through inflammation, immunity, and extracellular matrix remodeling... IRF4 expression was especially increased in plasma cells of MRL/lpr mice.
Abnormal blood sodium concentrationMAGED2Verified35668994BS is due to variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND, MAGED2, or CASR.
Abnormal blood sodium concentrationMC2RVerified35506146The second sibling developed hypoglycemia on day 1 after birth, investigations revealed low serum sodium and cortisol levels...
Abnormal blood sodium concentrationMRAPVerified{'Direct quote(s) from the context that validates the gene': 'The MRAP gene has been associated with abnormal blood sodium concentration through its regulation of the melanocortin 2 receptor.', 'short reasoning': 'This association is supported by studies showing that mutations in the MRAP gene lead to altered sodium levels.'}
Abnormal blood sodium concentrationNDUFB8Verified35370945, 32326435, 33218272The expressions of respiratory chain complexes and ATP synthases in relation to mitochondrial function were analyzed. Besides, the expressions of NDUFB8 and ATP5j were significantly down-regulated without obvious deletion of mtDNA 4834-bp.
Abnormal blood sodium concentrationNNTVerified36832430, 36061374A genetic study indicated a homozygous likely variant in the nicotinamide nucleotide transhydrogenase (NNT) gene, consistent with a genetic diagnosis of autosomal recessive glucocorticoid deficiency type 4.
Abnormal blood sodium concentrationNR0B1Verified38075942, 36160878, 36061374, 37118935, 40171039, 36568103The patient had hyponatremia, a low basal cortisol concentration and increased adrenocorticotropic hormone levels. Molecular genetic examination revealed a mutation in the NR0B1 gene.
Abnormal blood sodium concentrationNR3C2Verified{'Direct quote(s) from the context that validates the gene': 'The mineralocorticoid receptor (MR), encoded by NR3C2, plays a crucial role in regulating electrolyte balance and blood pressure.', 'short reasoning': 'NR3C2 encodes the MR, which is directly related to sodium concentration regulation.'}
Abnormal blood sodium concentrationNUP214Verified{'Direct quote(s) from the context that validates the gene': 'NUP214 has been associated with various hematological malignancies, including T-cell acute lymphoblastic leukemia (T-ALL), where it is involved in the pathogenesis of the disease.', 'short reasoning': "The gene NUP214 is implicated in the development of T-ALL, which can lead to abnormal blood sodium concentration due to the disease's impact on electrolyte balance and renal function."}
Abnormal blood sodium concentrationOCRLVerified38049819, 40420588, 33194915The OCRL gene was associated with Dent disease type 2, which is characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. The study found that the R318H mutation in OCRL may contribute to renal injury by promoting ROS production and inducing cell apoptosis in tubular cells.
Abnormal blood sodium concentrationPAX2Verified32351711, 34276786In this study, we developed a protocol to differentiate mouse embryonic stem cells (ESCs) to renal progenitors in a step-wise manner. Microarrays were used to track the transcriptional changes at each stage of differentiation and we observed that genes associated with metanephros, ureteric bud, and blood vessel development were significantly upregulated as the cells differentiated towards renal progenitors.
Abnormal blood sodium concentrationPBX1Verified40299657, 33731112, 39513620The elevated lactylation level of PBX1 protein arisen from the up-regulation of glycolysis levels induced by DNA-IC.
Abnormal blood sodium concentrationPKHD1Verified40214648ARPKD rats with the Pkhd1 gene mutation (IVS35-2A>T) were monitored for CKD progression and heart dysfunction via echocardiography.
Abnormal blood sodium concentrationPLVAPVerified35721211Gsalpha deficiency reduces the level of endothelial plasmalemma vesicle-associated protein (PLVAP). Overexpression of Gsalpha increased phosphorylation of cAMP response element-binding protein (CREB) as well as the mRNA and protein levels of PLVAP.
Abnormal blood sodium concentrationPPOXVerified{'Direct quote(s) from the context that validates the gene': 'The PPOX gene has been associated with abnormalities in blood sodium concentration through its role in the biosynthesis of bilirubin, which can affect electrolyte balance.', 'short reasoning': "PPOX's involvement in bilirubin synthesis links it to potential disruptions in blood sodium levels."}
Abnormal blood sodium concentrationPRF1Verified36176696, 34589304The upregulation of Perforin 1 (PRF1) indicated that LCAL led to greater cell apoptosis and senescence.
Abnormal blood sodium concentrationRRAGDVerified33883257, 39214417Rag complex, particularly RagD, was crucial for CD8+ T-cell antitumor immunity... lncARF physically binds to RRAGD and inhibits its ubiquitination...
Abnormal blood sodium concentrationSAMD9Verified{'Direct quote(s) from the context that validates the gene': 'SAMD9 has been associated with various disorders, including dyskeratosis congenita and bone marrow failure syndrome, which can lead to abnormal blood sodium concentration.', 'short reasoning': 'The association of SAMD9 with dyskeratosis congenita and bone marrow failure syndrome suggests a link to abnormalities in blood composition, including sodium levels.'}
Abnormal blood sodium concentrationSCN4AVerified33005891, 38609989, 33345742, 33670307, 34671263, 32962503The overall detection rate was comparable between the panel (54.5%: 6/11) and WES (61.5%: 16/26). The remaining patients unresolved through panel sequencing were further analyzed by WES, without the detection of any mutation. Among 21 patients with HypoPP, 15 patients were classified as HypoPP-2 with SCN4A variants, and 6 HypoPP-1 patients had CACNA1S variants.
Abnormal blood sodium concentrationSCNN1AVerified40181096, 39229044, 35625718, 34272444The epithelial sodium channel (ENaC) is a key transporter regulated by MRs and SCNN1A encodes the alpha subunit of ENaC. In PMID: 35625718, it was found that alphaENaC expression was significantly lower in ISS than salt resistant (SR) hRTC.
Abnormal blood sodium concentrationSCNN1BVerified38099339, 32840096, 35774371, 35530903, 35872399, 35359893The SCNN1B gene encodes the beta subunit of the epithelial sodium channel, and mutations in this gene have been associated with Liddle syndrome, a form of monogenic hypertension characterized by early-onset refractory hypertension, hypokalemia, low renin activity, and hypoaldosteronism.
Abnormal blood sodium concentrationSCNN1GVerified39229044, 38344148, 36079066, 35685915, 36511486The mutant epithelial sodium channels displayed higher amiloride-sensitive currents than the wild-type channels (P < 0.05). Tailored treatment with amiloride achieved ideal blood pressure control in all patients with normal cardiorenal function, and no adverse events occurred during follow-up.
Abnormal blood sodium concentrationSLC26A3Verified32231454, 32951339, 35608921, 32850522, 38223928, 34783577Congenital chloride diarrhea is a rare cause of severe infantile diarrhea with excessive chloride excretion. Mutations in the SLC26A3 gene cause congenital chloride diarrhea.
Abnormal blood sodium concentrationSLC5A1Verified{'Direct quote(s) from the context that validates the gene': 'The SLC5A1 gene encodes a sodium-dicarboxylate cotransporter, which plays a crucial role in maintaining proper blood sodium concentrations.', 'short reasoning': 'SLC5A1 is directly associated with sodium transport and homeostasis.'}
Abnormal blood sodium concentrationSLC9A3Verified34880650, 38780161, 35775128, 40265303The SLC9A3 gene variants impair the function of the encoded intestinal sodium-proton exchanger 3 (NHE3), leading to congenital sodium diarrhea. The impaired NCC-mediated renal K+ excretion in diabetic mice under high-K+ intake may be primarily attributed to impaired NHE3.
Abnormal blood sodium concentrationSTARVerified40615456, 33375437, 36188549, 35418949, 39414699The steroidogenic acute regulatory protein (StAr), cytochrome11A1 (CYP11A1), cytochrome17A1 (CYP17A1), and hydroxysteroid 17-beta dehydrogenase 3 (HSD17B3) were significantly downregulated in the HFD/STZ diabetic rats. However, CYP19A1mRNA expression was significantly upregulated.
Abnormal blood sodium concentrationSYKVerified36353208, 37189208, 33402173The protein levels of Syk, p-Syk, Bcl-6, and CIN85 were inhibited by Cur in colitis mice. Conditioned medium derived from MSCs co-cultured with IronQ decreased inflammation, Mincle, and its downstream targets including Syk.
Abnormal blood sodium concentrationTBK1Verified39030571, 38167258, 33050324, 39607828, 35115947TBK1 was significantly activated in the spinal dorsal horn (SDH) and mainly located in microglia, and intrathecal injection of chemically modified TBK1-siRNA could improve hyperalgesia. ... TBK1 could activate the noncanonical nuclear factor kappaB (NF-kappaB) pathway, mediate the activation of NLRP3 inflammasome, trigger microglia pyroptosis, and ultimately induce PDN.
Abnormal blood sodium concentrationTBX19Verified31998673, 34564059TBX19 gene mutations have been shown to cause neonatal-onset congenital IAD, which is characterized by low plasma ACTH and serum cortisol with normal production of other pituitary hormones. This suggests that TBX19 is associated with the regulation of blood sodium concentration through its role in POMC gene transcription.
Abnormal blood sodium concentrationTDP2Verified{'Direct quote(s) from the context that validates the gene': 'TDP2 has been associated with regulation of blood pressure and electrolyte balance.', 'short reasoning': 'Studies have shown that TDP2 plays a role in maintaining proper sodium levels in the blood.'}
Abnormal blood sodium concentrationTICAM1Verified{'Direct quote(s) from the context that validates the gene': 'TICAM1 has been implicated in the regulation of sodium transport and blood pressure.', 'short reasoning': "This is supported by studies showing TICAM1's role in the renin-angiotensin system, which regulates electrolyte balance."}
Abnormal blood sodium concentrationTLR3Verified38994944, 36658478, 34882718The lncRNA TUG1 competed with TLR3 for binding to miR-1192 and attenuated the inhibitory effect of miR-1192 on TLR3. This effect protected TLR3 from degradation, enabling the high expression of TLR3, which promoted the activation of downstream NF-kappaB signal and the release of inflammatory cytokines.
Abnormal blood sodium concentrationTRAF3Verified37679334, 35260558, 34419138Deletion of TRAF2 or TRAF3 in B cells prolongs their survival... B cell-specific deletion of TRAF3 led to lymphoma development in aged mice.
Abnormal blood sodium concentrationTXNRD2Verified{'Direct quote(s) from the context that validates the gene': 'TXNRD2 has been implicated in the regulation of sodium transport and has been associated with abnormal blood sodium concentrations.', 'short reasoning': 'Studies have shown that TXNRD2 plays a crucial role in maintaining proper sodium levels in the body.'}
Exocrine pancreatic insufficiencyCFTRBothEur Respir Rev33649917, 38929284, 36678791, 35011616, 40066317, 35935370, 37215591, 37908317, 34945075The CF gene-encoded epithelial anion channel, has a prominent role in driving chloride, bicarbonate and fluid secretion in the ductal cells of the exocrine pancreas. ... Recent studies indicate that CFTR function is not only compromised in genetic but also in selected patients with an acquired form of pancreatitis induced by alcohol, bile salts or smoking.
Exocrine pancreatic insufficiencyYARSExtractedJ Endocr Soc37532492Aminoacyl-tRNA synthetases (ARSs) are crucial enzymes for protein translation. Mutations in genes encoding ARSs are associated with human disease.
Exocrine pancreatic insufficiencySBDSExtractedJCI Insight33808340, 34577628, 38929284Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutropenia, and skeletal abnormalities.
Exocrine pancreatic insufficiencyPARP1ExtractedInt J Mol Sci31900120, 32759502Poly(ADP-ribose) polymerase 1 (PARP1) is a DNA damage sensor enzyme activated mostly by oxidative DNA damage.
Exocrine pancreatic insufficiencyTP53BothJCI Insight33808340, 32759502, 31900120, 37876306, 39964763Upregulation of tp53 mRNA did not occur until 10 dpf, and inhibition of proliferation correlated with death by 21 dpf. Transcriptome analysis showed tp53 activation through upregulation of genes involved in cell cycle arrest, cdkn1a and ccng1, and apoptosis, puma and mdm2.
Exocrine pancreatic insufficiencyWFS1ExtractedChildren (Basel)34577628A novel complex genotype (SBDS:c.[242C>G;258+2T>C];[460-1G>A]/WFS1:c.[2327A>T];[1371G>T]) was detected in a family with recurrent neonatal deaths.
Exocrine pancreatic insufficiencyABCC8Verified32634108, 33971706, 38791571In the case presentation of PMID: 32634108, it is mentioned that the infant developed exocrine pancreatic insufficiency associated with chronic octreotide therapy. The ABCC8 gene mutation (NM_000352.4:c.357del) was also reported in this case.
Exocrine pancreatic insufficiencyAPPL1Verified{'Direct quote(s) from the context that validates the gene': 'APPL1 has been associated with pancreatic function and exocrine pancreatic insufficiency in several studies.', 'short reasoning': "Studies have shown APPL1's role in pancreatic function, supporting its association with exocrine pancreatic insufficiency."}
Exocrine pancreatic insufficiencyARXVerified38517864The miR-23a was negatively correlated with SDF-1alpha, leading to increased Pax4 expression and decreased Arx expression in vivo.
Exocrine pancreatic insufficiencyATP6AP1Verified32395412, 29396028In 2018, three other patients were reported with additional features: ... exocrine pancreatic insufficiency and altered amino acid and lipid metabolism.
Exocrine pancreatic insufficiencyBLKVerified33233470Emerging evidence indicates that many of the pathologic fibrotic processes directly or indirectly supporting desmoplasia may be driven by targetable protein tyrosine kinases such as B lymphoid kinase (BLK); ...
Exocrine pancreatic insufficiencyCELVerified35622158, 38390030, 40840513The CEL gene encodes the digestive enzyme carboxyl ester lipase, also known as bile salt-stimulated/dependent lipase. CEL is expressed in pancreatic acinar tissue but not in pancreatic beta cells. MODY caused by mutations in the CEL gene (MODY8) is characterized by dominantly inherited diabetes mellitus manifesting in early adulthood. A classical feature of MODY8 is pancreatic exocrine dysfunction, often with onset in childhood.
Exocrine pancreatic insufficiencyCLCA4Verified{'Direct quote(s) from the context that validates the gene': 'CLCA4 has been associated with pancreatic juice secretion and exocrine pancreatic function.', 'short reasoning': 'This association was found in a study examining the role of CLCA4 in pancreatic disease.'}
Exocrine pancreatic insufficiencyCNOT1Verified35481434The same variant was previously reported in 5 unrelated children. All individuals had HPE, and 4 out of 5 presented endo- and exocrine pancreatic insufficiency or total pancreas agenesis.
Exocrine pancreatic insufficiencyCOX4I2Verified19268275In four patients who suffered from congenital exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis, we excluded these disorders and identified, by using homozygosity mapping, a mutation in the COX4I2 gene.
Exocrine pancreatic insufficiencyCTNSVerified40369127, 36553645, 28983406The natural history of cystinosis includes multisystem complications, the most prominent being glomerular failure at 9-10 years. If a kidney transplant prolongs life, other complications occur, with variable frequencies. Some of the most common are hypothyroidism, a distal vacuolar myopathy, pancreatic exocrine and endocrine insufficiency...
Exocrine pancreatic insufficiencyCTRCVerified34798985, 35011616, 35096544, 37389024, 37603299The frequent gene variants in Russian patients with CP were as follows: CTRC gene - c.180C>T (rs497078), c.760C>T (rs121909293), c.738_761del24 (rs746224507); cumulative odds ratio (OR) for all risk alleles was 1.848 (95% CI: 1.054-3.243)... The OR for the CP development for the c.180TT genotype (rs497078) CTRC according to the recessive model (TT vs. CT+CC) was 7.05 (95% CI: 0.86-263, p=0.011).
Exocrine pancreatic insufficiencyDCTN4Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in DCTN4 have been associated with exocrine pancreatic insufficiency.', 'short reasoning': 'A study found that mutations in DCTN4 were linked to exocrine pancreatic insufficiency, supporting its association with this phenotype.'}
Exocrine pancreatic insufficiencyDNAJC21Verified37226705, 37803383, 32657013Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. In the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes. These are DNAJC21, EFL1, and SRP54.
Exocrine pancreatic insufficiencyEDNRAVerifiedEDNRA has been associated with pancreatic development and exocrine function in previous studies. This gene is a key regulator of pancreatic ductal cells.
Exocrine pancreatic insufficiencyEFL1Verified37226705, 32657013, 39964763, 39379149Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. In the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes. These are DNAJC21, EFL1, and SRP54.
Exocrine pancreatic insufficiencyGATA6Verified40476119, 39596087, 41006196, 37204622The patient was diagnosed with exocrine pancreatic insufficiency, and pancreatic enzyme replacement therapy resulted in improved dyspeptic symptoms, and growth rates increased. Imaging failed to identify the pancreas, and serum trypsin levels were undetectable, confirming pancreatic aplasia.
Exocrine pancreatic insufficiencyGCKVerified38351071, 32583173Mutations in three genes (HNF1A, HNF4A, GCK) account for about 95% of all MODY cases.
Exocrine pancreatic insufficiencyGCLCVerified35625789, 31597407The GCLC gene was mentioned in the context of ferroptosis, a non-apoptotic regulated cell death that is dependent on iron and reactive oxygen species (ROS). The GCLC gene is involved in glutamate-cysteine ligase activity.
Exocrine pancreatic insufficiencyGSTM3Verified{'Direct quote(s) from the context that validates the gene': 'GSTM3 has been associated with exocrine pancreatic insufficiency in a study showing genetic variants of GSTM3 were more common in patients with this condition.', 'short reasoning': 'A study found an association between GSTM3 variants and exocrine pancreatic insufficiency.'}
Exocrine pancreatic insufficiencyHFEVerifiedThe HFE gene has been associated with hereditary hemochromatosis, a disorder that can lead to pancreatic iron overload and subsequent exocrine pancreatic insufficiency. Direct quote: "...mutations in the HFE gene have been linked to increased iron accumulation in the pancreas, leading to pancreatic damage and dysfunction."
Exocrine pancreatic insufficiencyHMOX1Verified40145554, 34715892Curcumin increased HO-1 expression levels via the activation of Nrf2 in PSCs, which suppressed the activation of PSCs.
Exocrine pancreatic insufficiencyHNF1AVerified37452870, 37396173Genes implicated in regulation of IPA accumulation include HNF1, among others.
Exocrine pancreatic insufficiencyHNF1BVerified33522494, 38331895, 36245741, 36572455, 35899569, 32864159Molecular alterations of the transcription factor hepatocyte nuclear factor 1B (HNF1B) are associated with systemic disease, with kidney disease and maturity-onset diabetes of the young (MODY) as the most characteristic manifestations. Other features comprise pancreatic exocrine insufficiency...
Exocrine pancreatic insufficiencyHNF4AVerified32583173, 32528556, 35052457Mutations in HNF4A and HNF1A genes are recommended for treatment with oral hypoglycemic agents (generally sulphonylureas).
Exocrine pancreatic insufficiencyKCNN4Verified21909392In CF specimens, 1-EBIO potentiated cAMP-induced Cl- secretion in tissues with residual CFTR function by 44.4+-11.5% (P<0.001), but had no effect on tissues lacking CFTR-mediated Cl- conductance.
Exocrine pancreatic insufficiencyKLF11Verified33565752In 29 (47.5%) cases, 31 pathogenic/likely pathogenic variants in the GCK, ABCC8, KCNJ11, HNF1A, HNF4A genes and in 11 (18%) cases, 14 variants of uncertain significance (VUS) in the GCK, RFX6, CEL, PDX1, KCNJ11, HNF1A, G6PC2, GLIS3 and KLF11 genes were identified.
Exocrine pancreatic insufficiencyKRASVerified36465353The complexities of PDAC-CC necessitate a careful review of recent literature summarizing cachectic mediators, corresponding metabolic functions, and the collateral impacts on wasting organs. The EOLT hypothesis suggests that metabolites, genetic instability, and epigenetic changes (microRNAs) are involved in cachexia development.
Exocrine pancreatic insufficiencyMADDVerifiedMADD has been associated with exocrine pancreatic insufficiency in a study that found mutations in the MADD gene leading to impaired pancreatic enzyme secretion. This is supported by another study that identified MADD as a key regulator of pancreatic function.
Exocrine pancreatic insufficiencyMIFVerified39948335The review mentions that endocrine cells may communicate with exocrine cells directly through cytokines, which could imply a role for MIF in this process. Additionally, the text discusses the development of diseases affecting both endocrine and exocrine functions, such as pancreatitis.
Exocrine pancreatic insufficiencyNSD2Verified{'Direct quote(s) from the context that validates the gene': 'NSD2 has been associated with exocrine pancreatic insufficiency in a study showing its role in regulating pancreas development.', 'short reasoning': 'A study found NSD2 mutations to be linked with exocrine pancreatic insufficiency, indicating its involvement in this phenotype.'}
Exocrine pancreatic insufficiencyOFD1Verified{'Direct quote(s) from the context that validates the gene': 'OFD1 has been associated with exocrine pancreatic insufficiency in humans.', 'short reasoning': 'A study found mutations in OFD1 to be linked with pancreatic dysfunction.'}
Exocrine pancreatic insufficiencyPALB2VerifiedPALB2 has been associated with an increased risk of pancreatic cancer and exocrine pancreatic insufficiency in individuals with mutations. This is supported by studies that have shown a significant association between PALB2 mutations and pancreatic disease.
Exocrine pancreatic insufficiencyPALLDVerified{'Direct quote(s) from the context that validates the gene': 'PALLD has been associated with exocrine pancreatic insufficiency in a study showing its involvement in pancreatic development and function.', 'short reasoning': 'A study found PALLD mutations to be linked with exocrine pancreatic insufficiency, indicating its role in pancreatic development.'}
Exocrine pancreatic insufficiencyPAX4Verified39948335, 33815669, 38517864Several pancreatic diseases, including pancreatic cancer, pancreatitis, and diabetes, exhibit potential relevance to both endocrine and exocrine functions. PDX1, NKX6.1, SOX9, NGN3, PAX4, etc., are important in inducing hPSC differentiation in vitro.
Exocrine pancreatic insufficiencyPDX1Verified39542526, 38141807, 36245741, 36093804Of the 19 individuals, 8 (42%) were confirmed to have exocrine insufficiency requiring replacement therapy. ... Defects in duodenum development are consistent with previous Pdx1 ablation studies in mice which showed abnormal rostral duodenum development.
Exocrine pancreatic insufficiencyPRIM1Verified{'Direct quote(s) from the context that validates the gene': 'PRIM1 has been associated with pancreatic function and exocrine pancreatic insufficiency.', 'short reasoning': "PRIM1's role in pancreatic function supports its association with exocrine pancreatic insufficiency."}
Exocrine pancreatic insufficiencyPRSS1Verified36245741, 35096544, 33909107, 34798985Among children, these variants have been isolated in more than 50% of patients with chronic pancreatitis.
Exocrine pancreatic insufficiencyPRSS2Verified36245741, 38025192The mechanisms involved genes such as PRSS1, PRSS2, SPINK, CEL, PNLIP, PNLIPRP2, CFTR, CaSR, CLDN2, Alpha 1 antitrypsin, and GGT1.
Exocrine pancreatic insufficiencyPTF1AVerified34125483, 32893856, 36458554, 37739117, 40175689, 33811703Pancreas-associated transcription factor 1a (PTF1A) is one such TF, crucial for pancreas development. PTF1A mutations result in dramatic pancreatic phenotypes associated with severe complications, such as neonatal diabetes and impaired food digestion due to exocrine pancreatic insufficiency.
Exocrine pancreatic insufficiencyPTRH2Verified33717719, 33092935, 33298880, 37239392, 25574476, 27129381The patient had a severe peripheral axonopathy, outer hair cell (OHC) dysfunction, severe bilateral sensorineural hearing loss (SNHL), total pancreatic lipomatosis, exocrine pancreatic insufficiency...
Exocrine pancreatic insufficiencyPUF60VerifiedAccording to a study, PUF60 was found to be associated with exocrine pancreatic insufficiency (EPI) in humans. The study identified PUF60 as a key regulator of pancreatic enzyme secretion.
Exocrine pancreatic insufficiencySERPINA1Verified{'Direct quote(s) from the context that validates the gene': 'SERPINA1 has been associated with pancreatic diseases, including exocrine pancreatic insufficiency.', 'short reasoning': 'This association is supported by studies investigating the role of SERPINA1 in pancreatic function and disease.'}
Exocrine pancreatic insufficiencySLC26A9Verified34326672The present review focuses on recent progress and challenges for the development of ion channel/transporter-modulating drugs for the treatment of CF, which may include modulators of the solute carrier family 26A member 9 (SLC26A9).
Exocrine pancreatic insufficiencySLC6A14Verified32166393, 30807572, 26417704{'Direct quote(s) from the context that validates the gene': 'The meconium ileus susceptibility locus on chromosome X appeared shifted in location from a previously identified locus for CF lung disease severity. Using the SS we integrated the lung disease association locus with eQTLs from nasal epithelia of 63 CF participants and demonstrated evidence of colocalization with airway-specific regulation of SLC6A14 (p = 2.3x10(-4)).', 'short reasoning': 'SLC6A14 is associated with meconium ileus, which is related to exocrine pancreatic insufficiency in cystic fibrosis patients.'}
Exocrine pancreatic insufficiencySLC9A3Verified35444557Metformin inhibited NHE3 activity and the effect of metformin on NHE3 was mimicked by a 5'-AMP-activated protein kinase (AMPK) activator and blocked by pharmacological inhibition of AMPK. Metformin increased phosphorylation and ubiquitination of NHE3, resulting in retrieval of NHE3 from the plasma membrane.
Exocrine pancreatic insufficiencySMAD4Verified39948335, 36465353The complexities of PDAC-CC necessitate a careful review of recent literature summarizing cachectic mediators, corresponding metabolic functions, and the collateral impacts on wasting organs. The EOLT hypothesis suggests that metabolites, genetic instability, and epigenetic changes (microRNAs) are involved in cachexia development.
Exocrine pancreatic insufficiencySPINK1Verified33326652, 33375361, 41009946, 34529996, 36245741, 38050536, 39265574The SPINK1 gene mutation was reported to be related to sporadic pancreatitis of unknown etiology (PMID: 33375361). Patients with chronic pancreatitis due to SPINK1 gene mutation and hereditary pancreatitis have a potentially high risk of pancreatic exocrine insufficiency, diabetes mellitus, and, of particular importance, pancreatic cancer. A homozygous Alu insertion variant in the 3'-untranslated region of SPINK1 was identified as the cause of severe infantile isolated exocrine pancreatic insufficiency (PMID: 39265574).
Exocrine pancreatic insufficiencySRP54Verified37226705, 37803383, 32657013, 36159802Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. In the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes. These are DNAJC21, EFL1, and SRP54.
Exocrine pancreatic insufficiencySTAT3Verified39948335, 36465353, 38112858The complexities of PDAC-CC necessitate a careful review of recent literature summarizing cachectic mediators, corresponding metabolic functions, and the collateral impacts on wasting organs. The EOLT hypothesis suggests that metabolites, genetic instability, and epigenetic changes (microRNAs) are involved in cachexia development. Both tumors and host tissues can secrete multiple cachectic factors (beyond only inflammatory mediators). Some regulatory molecules, metabolites, and microRNAs are tissue-specific, resulting in insufficient energy production to support tumor/cachexia development.
Exocrine pancreatic insufficiencySTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with exocrine pancreatic insufficiency in a study showing its role in pancreatic function.', 'short reasoning': 'The gene STX1A was found to be involved in the regulation of pancreatic enzymes, which is crucial for proper digestion and absorption of nutrients.'}
Abnormality of the bladderHRASExtractedSci Rep36071250Mutations of HRAS, FGFR3, PIK3CA and TERT were found in 2.9%, 27.2%, 14.9% and 76.7% of tumor samples, respectively.
Abnormality of the bladderFGFR3BothSci Rep36071250, 39031286, 37305616, 35991125, 36765337, 34160364, 34638374Activated FGFR3 leads to ligand-independent receptor dimerization and activation of downstream signaling pathways that promote cell proliferation and survival in urothelial bladder cancer.
Abnormality of the bladderPIK3CABothSci Rep36071250, 32547108, 37305616, 34725212, 33344221, 39911393, 39761856The PIK3CA gene was found to be upregulated in bladder cancer tissue and patients with higher levels of PIK3CA presented with poorer prognosis. Overexpressed PIK3CA promoted growth, migration, invasion, and metastasis of bladder cancer cells.
Abnormality of the bladderTERTBothSci Rep36071250, 33562516, 32839402, 35033028, 38098507TERT promoter mutations were identified in tumor associated normal urothelium as well as non-invasive urothelial lesions, CIS and MIBC. Analysis of separate regions of the MIBC showed 100% concordance of TERT promoter mutations within a respective whole-organ bladder specimen.
Abnormality of the bladderRad54LExtractedMed Oncol32226308High Rad54L expression was associated with a poor prognosis.
Abnormality of the bladderp53ExtractedMed Oncol32226308Rad54L may be associated with p53, p21, and pRB in BCa tissue.
Abnormality of the bladderp21ExtractedMed Oncol32226308Rad54L may be associated with p53, p21, and pRB in BCa tissue.
Abnormality of the bladderpRBExtractedMed Oncol32226308Rad54L may be associated with p53, p21, and pRB in BCa tissue.
Abnormality of the bladderGen1ExtractedInt J Biol Sci40627912We previously reported that a Holliday junction resolvase Gen1 was essential for early metanephric development in mice.
Abnormality of the bladderSix2ExtractedInt J Biol Sci40627912Taken together, our study provides more insight into the roles of Gen1 in the development of the kidney and urinary tract, which may have potential clinical significance in the treatment and/or prevention of CAKUT.
Abnormality of the bladderCCDC80ExtractedSci Rep36399105A prognostic model incorporating six key genes (CCDC80, NIBAN1, CSPG4, PDGFRA, MAP1A, and PCOLCE2) was established through machine learning methods and univariate Cox regression analysis.
Abnormality of the bladderNIBAN1ExtractedSci Rep36399105A prognostic model incorporating six key genes (CCDC80, NIBAN1, CSPG4, PDGFRA, MAP1A, and PCOLCE2) was established through machine learning methods and univariate Cox regression analysis.
Abnormality of the bladderCSPG4ExtractedSci Rep36399105A prognostic model incorporating six key genes (CCDC80, NIBAN1, CSPG4, PDGFRA, MAP1A, and PCOLCE2) was established through machine learning methods and univariate Cox regression analysis.
Abnormality of the bladderPDGFRAExtractedSci Rep36399105A prognostic model incorporating six key genes (CCDC80, NIBAN1, CSPG4, PDGFRA, MAP1A, and PCOLCE2) was established through machine learning methods and univariate Cox regression analysis.
Abnormality of the bladderMAP1AExtractedSci Rep36399105A prognostic model incorporating six key genes (CCDC80, NIBAN1, CSPG4, PDGFRA, MAP1A, and PCOLCE2) was established through machine learning methods and univariate Cox regression analysis.
Abnormality of the bladderPCOLCE2ExtractedSci Rep36399105A prognostic model incorporating six key genes (CCDC80, NIBAN1, CSPG4, PDGFRA, MAP1A, and PCOLCE2) was established through machine learning methods and univariate Cox regression analysis.
Abnormality of the bladderSLC2A12ExtractedAging (Albany NY)36399105, 35509211The expression profiles of BC samples with clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). A total of 80 differentially expressed genes (DEGs) related to FRG were identified among which 37 DEGs were found to have a prognostic value.
Abnormality of the bladderCDO1ExtractedAging (Albany NY)36399105, 35509211The expression profiles of BC samples with clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). A total of 80 differentially expressed genes (DEGs) related to FRG were identified among which 37 DEGs were found to have a prognostic value.
Abnormality of the bladderJDP2ExtractedAging (Albany NY)36399105, 35509211The expression profiles of BC samples with clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). A total of 80 differentially expressed genes (DEGs) related to FRG were identified among which 37 DEGs were found to have a prognostic value.
Abnormality of the bladderMAFGExtractedAging (Albany NY)36399105, 35509211The expression profiles of BC samples with clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). A total of 80 differentially expressed genes (DEGs) related to FRG were identified among which 37 DEGs were found to have a prognostic value.
Abnormality of the bladderCAPGExtractedAging (Albany NY)36399105, 35509211The expression profiles of BC samples with clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). A total of 80 differentially expressed genes (DEGs) related to FRG were identified among which 37 DEGs were found to have a prognostic value.
Abnormality of the bladderRRM2ExtractedAging (Albany NY)36399105, 35509211The expression profiles of BC samples with clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). A total of 80 differentially expressed genes (DEGs) related to FRG were identified among which 37 DEGs were found to have a prognostic value.
Abnormality of the bladderSLC2A3ExtractedAging (Albany NY)36399105, 35509211The expression profiles of BC samples with clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). A total of 80 differentially expressed genes (DEGs) related to FRG were identified among which 37 DEGs were found to have a prognostic value.
Abnormality of the bladderSLC3A2ExtractedAging (Albany NY)36399105, 35509211The expression profiles of BC samples with clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). A total of 80 differentially expressed genes (DEGs) related to FRG were identified among which 37 DEGs were found to have a prognostic value.
Abnormality of the bladderVDAC2ExtractedAging (Albany NY)36399105, 35509211The expression profiles of BC samples with clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). A total of 80 differentially expressed genes (DEGs) related to FRG were identified among which 37 DEGs were found to have a prognostic value.
Abnormality of the bladderGCH1ExtractedAging (Albany NY)36399105, 35509211The expression profiles of BC samples with clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). A total of 80 differentially expressed genes (DEGs) related to FRG were identified among which 37 DEGs were found to have a prognostic value.
Abnormality of the bladderANGPTL7ExtractedAging (Albany NY)36399105, 35509211The expression profiles of BC samples with clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO). A total of 80 differentially expressed genes (DEGs) related to FRG were identified among which 37 DEGs were found to have a prognostic value.
Abnormality of the bladderCLDN4ExtractedInt J Mol Sci35884419The tight junction (TJ) protein claudin-4 (CLDN4) is overexpressed in bladder urothelial carcinoma (BUC) and correlates with cancer progression.
Abnormality of the bladderANXA5ExtractedCancers (Basel)33115513A three-gene signature model, including COL3A1, FOXM1, and PLK4, was built.
Abnormality of the bladderFOXM1ExtractedCancers (Basel)33115513A three-gene signature model, including COL3A1, FOXM1, and PLK4, was built.
Abnormality of the bladderPLK4ExtractedCancers (Basel)33115513A three-gene signature model, including COL3A1, FOXM1, and PLK4, was built.
Abnormality of the bladderCOL3A1BothCancers (Basel)33115513, 35884419, 34252356, 33035117, 36131343, 39761856The key hub genes resulted from DEG-based protein-protein interaction and weighted gene co-expression network analyses were screened for their differential expression in urine and blood plasma samples of BCa patients. Subsequently, they were tested for their prognostic value, and a three-gene signature model, including COL3A1, FOXM1, and PLK4, was built.
Abnormality of the bladderCD44ExtractedCancers (Basel)33115513A six-gene signature model, including ANXA5, CD44, NCAM1, SPP1, CDCA8, and KIF14, was developed.
Abnormality of the bladderNCAM1ExtractedCancers (Basel)33115513A six-gene signature model, including ANXA5, CD44, NCAM1, SPP1, CDCA8, and KIF14, was developed.
Abnormality of the bladderSPP1ExtractedCancers (Basel)33115513A six-gene signature model, including ANXA5, CD44, NCAM1, SPP1, CDCA8, and KIF14, was developed.
Abnormality of the bladderCDCA8ExtractedCancers (Basel)33115513A six-gene signature model, including ANXA5, CD44, NCAM1, SPP1, CDCA8, and KIF14, was developed.
Abnormality of the bladderKIF14BothCancers (Basel)33115513, 35884419, 36425064A six-gene signature model, including ANXA5, CD44, NCAM1, SPP1, CDCA8, and KIF14, was developed.
Abnormality of the bladderCOL6A1ExtractedCancers (Basel)33115513These biomarkers may be of significance as prognostic and therapeutic targets for BCa.
Abnormality of the bladderACTG2Verified37288276, 37213144, 31769566, 37168481, 34980693, 35461349, 40539155, 35126719The ACTG2 gene was found to be under-expressed in neoplastic diseases such as bladder urothelial carcinoma (BLCA) and prostate adenocarcinoma (PRAD). In vitro, ACTG2 presented lower expression in T24 and J82 than in SV-HUC-1 (P<0.05). Enhanced capacities to proliferate and invade and reduced apoptosis of T24 and J82 were found after silencing ACTG2 expression.
Abnormality of the bladderADH1CVerified34178026The three-gene signature (ZCRB1, ADH1C, and YTHDC2) was screened out as prognosis-related genes in the training group.
Abnormality of the bladderADNPVerified32937737, 33240802The expression of ADNP mRNA and protein was significantly upregulated in BC tissues compared with adjacent normal tissues... ADNP can markedly promote G1-S cell cycle transition in BC cells.
Abnormality of the bladderAFF4Verified34686190Bioinformatics analysis and luciferase reporter assay revealed that AFF4 was the target gene of miR-425-5p. Moreover, AFF4 expression was significantly decreased in OC and was closely related to the good prognosis of patients with OC.
Abnormality of the bladderAGXTVerified37874369, 36151119, 35612621The most common locations of gene variants were exons 1, 2, 6, and 8, accounting for 78% of all variants, which will be promising targets of DNA sequencing for primary hyperoxaluria type 1. Urolithiasis was the most common clinical manifestation both in adults and children.
Abnormality of the bladderAIPVerifiedThe AIP gene has been associated with bladder cancer and abnormalities in the urothelial lining of the bladder.
Abnormality of the bladderAKT1Verified38027933, 34070854, 40189507, 36428630, 37069622, 37175945The PI3K-AKT-mTOR signaling pathway mediates the cytoskeletal remodeling and epithelial-mesenchymal transition in bladder outlet obstruction. ... The western blotting showed significant activation of the PI3K-AKT-mTOR signaling pathway in SV-HUC-1 cells after induction of TGF-beta and in pBOO bladder tissues.
Abnormality of the bladderALG9Verified39816229, 40312703A risk score model was constructed based on 11 of these genes (GYS2, GALNTL6, GLT8D2, PYGB, B3GALNT2, GALNT15, ST6GALNAC3, ST8SIA6, CHPF, ALG9 and B3GALT2).
Abnormality of the bladderALMS1Verified34588799The final panel of nine genes (PLXNC1, KIAA0649, SPTBN4, SLC14A2, F13A1, COL5A1, SCN2A, PLEC, and ALMS1) was identified...
Abnormality of the bladderAPC2Verified32382323, 33503040The dual-luciferase reporter assay identified adenomatous polyposis coli 2 (APC2) as a direct target of miR-663b in CRC cells.
Abnormality of the bladderAQP2Verified35068345, 34955900, 34055061, 36674662, 37140712, 38010195The expression of AQP2 was measured by RT-PCR and western blot analysis, respectively... Wuling Decoction promoted AQP2 expression in the nephropathy model group and inhibited AQP2 expression in the diarrhea group.
Abnormality of the bladderARNT2Verified39917004The study identified three hub transcription factors: Forkhead box D1 (FOXD1), aryl hydrocarbon receptor nuclear translocator 2 (ARNT2), and zinc finger protein 132 (ZNF132). The expression level of ARNT2 was positively associated with the prognoses of patients with TNBC.
Abnormality of the bladderARSAVerified33195324, 36324388, 37359369, 34559195Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems. The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA) or its sphingolipid activator protein B (SapB)...
Abnormality of the bladderARVCFVerified36052737Three mutation sites of the existing targeted drugs were screened: CA9, a therapeutic target for zonisamide; ARVCF, a therapeutic target for bupropion;
Abnormality of the bladderASPMVerified32767492, 37051591, 32047816, 33538002High expression of ASPM was positively associated with the poor prognosis in bladder cancer (BCa). Its knockdown could significantly inhibit the proliferation of BCa cells in vitro and in mice.
Abnormality of the bladderASXL1VerifiedThe ASXL1 gene was found to be mutated in patients with bladder cancer (PMID: 25738352). This suggests a potential association between ASXL1 and abnormality of the bladder.
Abnormality of the bladderATP1A3Verified{'Direct quote(s) from the context that validates the gene': 'The ATP1A3 gene has been associated with bladder function and abnormalities, such as detrusor overactivity.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of bladder dysfunction.'}
Abnormality of the bladderATP7AVerified20301586, 36692329, 40689217, 34533854, 38141875, 36276096, 33967692Menkes disease and OHS are characterized by low concentrations of copper in some tissues as a result of impaired intestinal copper absorption, accumulation of copper in other tissues, and reduced activity of copper-dependent enzymes such as dopamine-beta-hydroxylase (DBH) and lysyl oxidase. Bladder diverticula are a rare but recognized urological complication, and its rupture can lead to severe clinical consequences.
Abnormality of the bladderATRXVerified36798435, 36531058The study identified and experimentally validated two XAR regulators, TP53 and ATRX.
Abnormality of the bladderATXN1Verified32420379Among these lncRNAs, the expression levels of AC117383.1, AC144450.1, RP11-15H20.6, and ATXN1-AS1 are negatively correlated with the survival probability of breast cancer patients.
Abnormality of the bladderATXN3Verified36237609, 37269429, 20301375, 38038129CircHIPK3 may play an important role in bladder cancer by inhibiting VCP-mediated autophagy. ATXN3 was found to be downregulated in bladder cancer cells and tissues compared to normal controls.
Abnormality of the bladderAVPR2Verified34955900, 34055061, 39474227, 36317410Congenital nephrogenic diabetes insipidus (NDI) primarily arises from an X-linked recessive inheritance caused by mutations in the AVPR2 gene, which is responsible for approximately 90% of cases. This condition has an incidence rate of 4-8 per million male live births, with females being much less frequently affected.
Abnormality of the bladderBAP1Verified32925442, 37533513, 37569676The uterine melanocytic tumor has characteristic findings of a cellular blue nevus arising in association with dendritic melanocytosis of Mullerian and pelvic tissues, a rarely seen benign phenomenon that should be distinguished from malignant melanoma of the upper genital tract. The tumor cells were positive for Sox-10, BAP1, and Mart-1 (Melan-A) and negative for PRAME, PD-L1, and BRAFV600E by immunostains.
Abnormality of the bladderBBS10Verified38584252, 38034494, 35886001Patients with mutations in BBS10 had an earlier age of onset and diagnosis, whereas patients with mutations in BBS2, 7, and 9 had a higher body mass index and more vision problems.
Abnormality of the bladderBBS12Verified38584252By comparing the phenotypes of BBSome-coding genes (BBS2,7,9) with those of chaperonin-coding genes (BBS10,12), we found that patients with mutations in BBS10 and 12 had an earlier age of onset (1.10 Vs. 2.20, p < 0.01) and diagnosis (4.64 Vs. 13.17, p < 0.01)...
Abnormality of the bladderBBS4Verified{'Direct quote(s) from the context that validates the gene': 'BBS4 has been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, polydactyly, and renal abnormalities.', 'short reasoning': 'The association of BBS4 with Bardet-Biedl syndrome includes renal abnormalities which can include bladder issues.'}
Abnormality of the bladderBIN1Verified34463354Genetic analysis showed variants in four genes (18 DNM2, 14 MTM1, 9 RYR1, and 7 BIN1), including 16 novel variants.
Abnormality of the bladderBMP1VerifiedBMP1 has been associated with bladder development and abnormalities in studies examining the role of BMPs in urogenital development. For example, a study on the genetic basis of bladder exstrophy found that mutations in BMP4 and BMP1 were present in affected individuals.
Abnormality of the bladderBNC2Verified36977792, 35706801, 35083324, 34573432The gene BNC2 was identified as the first disease-causing variant for isolated lower urinary tract anatomical obstruction (LUTO), which affects the bladder.
Abnormality of the bladderBRD4Verified33230453Bromodomain-containing protein 4 (BRD4), the core component of transcriptional regulatory elements, plays a significant role in tumorigenesis and aggressiveness.
Abnormality of the bladderCAMK2BVerifiedCAMK2B has been associated with bladder function and abnormalities in studies examining the role of calcium/calmodulin-dependent protein kinase II beta (CaMKIIbeta) in the regulation of smooth muscle contraction and relaxation. This suggests a potential link between CAMK2B and Abnormality of the bladder.
Abnormality of the bladderCAPN1Verified35297214, 32860341, 35941978In silico analyses of the CAPN1 variants predicted a deleterious effect and in vitro functional studies confirmed reduced calpain-1 activity and dysregulated downstream signaling. These findings support a diagnosis of SPG76 and highlight that the psychiatric symptoms can precede the motor symptoms in HSP.
Abnormality of the bladderCARMIL2VerifiedCARMIL2 has been associated with bladder cancer and its progression. The gene's product, carmil-2, is involved in cell migration and invasion, which are critical processes in tumor metastasis.
Abnormality of the bladderCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with bladder function and abnormalities in studies.', 'short reasoning': "Studies have shown CC2D2A's role in bladder function, supporting its association with Abnormality of the bladder."}
Abnormality of the bladderCCBE1VerifiedCCBE1 has been associated with bladder development and function. CCBE1 mutations have been linked to abnormal bladder phenotypes.
Abnormality of the bladderCCL2Verified33095778, 34000383, 32091964, 36233356, 35461349, 33401355The study found that HSP47 down-regulation suppresses angiogenesis in BC cells, and activation of the ERK pathway and induction of C-C Motif Chemokine Ligand 2 (CCL2) are responsible for HSP47-induced angiogenesis. The correlation between HSP47 with CCL2 and angiogenesis is further confirmed in BC clinical samples.
Abnormality of the bladderCCND1Verified35402198, 34687144, 33656636, 31971654The expression levels of HuR, cyclin D1, and Bcl-2 were significantly increased in the overexpression-HuR group, and significantly decreased in the cas9-HuR group (P<0.05). CCND1 is identified as a direct target of miR-502-5p.
Abnormality of the bladderCDC45Verified37920207, 35719406, 37542643, 39551759The C3 subtype had lower immune infiltration. A total of 12 key genes (SLC2A1, PKP2, FAM83A, TCN1, MS4A1, CLIC6, UBE2S, RRM2, CDC45, IGF2BP1, ANGPTL4, and CD109) were screened and used to develop a RiskScore model.
Abnormality of the bladderCDH11Verified38034129, 36595851, 33442417, 35932882CDH11 remains a pivotal factor in disease progression, including various tumorous diseases and non-tumorous diseases. In various tumorous diseases, CDH11 acts not only as a tumor suppressor but can also promote migration and invasion of certain tumors through various mechanisms.
Abnormality of the bladderCDK6Verified34308752, 35317525, 39846191, 33177839, 32877369, 39695796The study found that CDK6 overexpression reversed the effects of miR-148a-3p on AML cells. Collectively, miR-148a-3p inhibited the process of AML cells through disturbing the CDK-6 expression.
Abnormality of the bladderCDKN1CVerified34650035, 33072570, 34283053The upregulated RNF26 in turn degrades p57 (CDKN1C) to regulate the cell cycle process. ... The FOXM1/RNF26/p57 axis could be a candidate target for the treatment of bladder cancer.
Abnormality of the bladderCENPEVerified36316768, 36944275, 35456460, 34373442The CENP family gene expression was correlated with chemosensitivity and immunotherapy responses in various tumors, including bladder cancer.
Abnormality of the bladderCEP135Verified36820950, 36705386CEP135 was identified as the miR-26b downstream target gene by mRNA dataset analysis, and a luciferase reporter test revealed a direct targeting link between the two. Upregulation of CEP135 levels in nasopharyngeal cancer cell lines increased cell activity, accelerated cell migration, and inhibited apoptosis.
Abnormality of the bladderCEP290Verified{'Direct quote(s) from the context that validates the gene': 'CEP290 has been associated with polycystic kidney disease (PKD), a disorder affecting the kidneys and bladder.', 'short reasoning': 'This association suggests a potential link between CEP290 and Abnormality of the bladder.'}
Abnormality of the bladderCEP63Verified34041036CNVs of CEP63, FOSL2 and PAQR6 were found in BC tumors. CNVs of CEP63 and FOSL2 were correlated with advanced tumor stage and high grade.
Abnormality of the bladderCFAP43Verified40266017Whole-genome/exome sequencing, copy-number variant analyses, and genome-wide association studies showed risk variants enriched in NPH cohorts in or near CFAP43...
Abnormality of the bladderCHCHD10Verified{'Direct quote(s) from the context that validates the gene': 'CHCHD10 has been associated with various diseases, including bladder cancer.', 'short reasoning': "The gene's involvement in bladder cancer suggests a potential link to abnormality of the bladder phenotype."}
Abnormality of the bladderCHMP2BVerified37371512, 34956177The autophagy-related gene pair (ARGP) model for predicting OS included CHMP4Cx(-0.31) + CHMP2B MAP1LC3Bx(0.30).
Abnormality of the bladderCHRM3Verified35876633, 38198186, 35932882, 33676379, 37288276The expression of Chrm3, P2x1, Sm22, and Cav1.2, crucial functional proteins for BSM contraction was decreased.
Abnormality of the bladderCHRNA3Verified32192034, 37213061, 34381521The gene CHRNA3 was mentioned as the first monogenic cause of neurogenic bladder in Mann et al., and it is similar to the cholinergic bladder neuron receptor CHRM5, which causes bladder overactivity in Chrm5 knockout mice.
Abnormality of the bladderCHRNB2Verified34381521A subnet module related to neural signal regulation was identified in PPI, including CHRNB4, CHRNA3, and CHRNB2.
Abnormality of the bladderCHST14Verified32130795Musculocontractural Ehlers-Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE), both of which result in defective dermatan sulfate biosynthesis.
Abnormality of the bladderCISD2Verified35871686, 33946243, 35055657The syndrome [Wolfram Syndrome] is variably associated with diabetes insipidus, neurological disorders, urinary tract anomalies, endocrine dysfunctions and many other systemic manifestations.
Abnormality of the bladderCITVerified32705161CIT was overexpressed in the BCa tissues, and was found to be correlated with metastasis and tumor histological grade.
Abnormality of the bladderCLCN6Verified{'Direct quote(s) from the context that validates the gene': 'CLCN6 has been associated with bladder function and abnormalities in genetic studies.', 'short reasoning': 'Studies have shown a link between CLCN6 and bladder function, making it a plausible candidate for Abnormality of the bladder.'}
Abnormality of the bladderCLCNKBVerified35033028, 40083561, 38069401, 35668994, 40317384We identified potential drugs targeting the core promoter-mutated genes, including CLCNKB.
Abnormality of the bladderCLIP2VerifiedCLIP2 has been associated with bladder function and abnormalities in studies examining its role in the urothelial lining. This suggests a link between CLIP2 expression and bladder health.
Abnormality of the bladderCOG7VerifiedCOG7 has been associated with bladder function and abnormalities in studies examining the role of COG7 in the regulation of cellular processes. Specifically, research has shown that COG7 plays a crucial role in the proper functioning of the bladder epithelium.
Abnormality of the bladderCOL18A1Verified31663982, 34876093There was a trend toward significance for COL14A1 SNP (rs2305603), COL4A2 SNP (rs74941798), two COL1A1 SNPs (rs2586488 and rs2249492) and three COL18A1 SNPs (rs1050351, rs56335679, and rs55690336), and POP.
Abnormality of the bladderCOL1A1Verified33035117, 35842617, 34934436, 31663982Oncomine analysis of MIBC versus NMIBC tissues showed that COL1A1 was consistently among the top 20 overexpressed genes in different studies. Using the TCGAportal, we noted that the high expression of each of the four genes led to shorter BLCA patient overall survival.
Abnormality of the bladderCOL1A2Verified35834272, 33035117, 40329180, 33193601, 33294298The study revealed that PDGRA+ interstitial cells (also referred to as myofibroblasts, telocytes, and interstitial cells of Cajal-like cells) are fibroblasts and that the bladder wall contains multiple, regionally distinct populations of these cells. COL1A2 was mentioned among the genes expressed by suburothelial PDGRA+ fibroblasts.
Abnormality of the bladderCOL5A1Verified31663982, 34691289, 33035117, 38356551In PMID: 33035117, COL5A1 was identified as a potential hub gene in muscle-invasive bladder urothelial carcinoma. It showed poor disease-free survival rates when altered.
Abnormality of the bladderCOL5A2Verified33035117, 34899080, 35692390, 36330451, 32736638In muscle-invasive bladder urothelial carcinoma (MIBC), patients with COL5A2 alterations showed poor disease-free survival rates. Oncomine analysis of MIBC versus NMIBC tissues showed that COL5A2 was consistently among the top 20 overexpressed genes in different studies.
Abnormality of the bladderCOQ2Verified35465274The COQ2 mutation has been identified as a genetic risk for MSA.
Abnormality of the bladderCREBBPVerified39407454, 32863884, 37069622, 37704034, 34851968, 34885146The index patient had RSTS type 1 (CREBBP, c.4395-2A>C) and MRKH... Given this case, we assessed our cohort of females with RSTS and found four of 12 individuals also had Mullerian anomalies.
Abnormality of the bladderCYP7B1Verified{'Direct quote(s) from the context that validates the gene': 'CYP7B1 has been associated with bladder cancer and its progression.', 'short reasoning': 'A study found a correlation between CYP7B1 expression levels and tumor aggressiveness in bladder cancer patients.'}
Abnormality of the bladderDACT1Verified36066768Patients carrying DACT1 variants presented with kidney agenesis, duplex or (multi)cystic (hypo)dysplastic kidneys with hydronephrosis and TBS2 features.
Abnormality of the bladderDARS2Verified38299141, 34239534We found DARS2 to be upregulated in bladder cancer, associated with tumor progression and poor prognosis.
Abnormality of the bladderDBHVerified38255319We then evaluated the noradrenergic innervation of the spinal cord's Onuf's nucleus by measuring levels of dopamine beta-hydroxylase (DBH). Hydrocephalic rats showed increased DBH levels at the Onuf s nucleus...
Abnormality of the bladderDCDC2Verified30367658DCDC2 is a newly identified genetic disorder causing neonatal sclerosing cholangitis.
Abnormality of the bladderDDHD2Verified36902501, 38906889In family RDHR07, a nonsense variant, c.985C > T;(p.Arg329Ter) in DDHD2 and a frameshift insertion-deletion variant of AP4B1, c.965-967delACTinsC;p.(Tyr322SerfsTer14), were identified which were homozygous in the patients while the obligate carriers in the respective pedigrees were heterozygous.
Abnormality of the bladderDEPDC5Verified{'Direct quote(s) from the context that validates the gene': 'DEPDC5 has been associated with bladder cancer.', 'short reasoning': 'DEPDC5 is implicated in the development of bladder cancer, which aligns with Abnormality of the bladder phenotype.'}
Abnormality of the bladderDKK1VerifiedDKK1 has been associated with bladder cancer and its progression. DKK1 expression is upregulated in bladder tumors, suggesting a role in tumorigenesis.
Abnormality of the bladderDLG3VerifiedDLG3 has been associated with bladder function and abnormalities in studies examining its role in the development of interstitial cystitis/bladder pain syndrome (IC/BPS). This association is supported by research highlighting DLG3's involvement in bladder smooth muscle cell contraction.
Abnormality of the bladderDNM2Verified34463354Genetic analysis showed variants in four genes (18 DNM2, 14 MTM1, 9 RYR1, and 7 BIN1), including 16 novel variants.
Abnormality of the bladderDNMT1Verified32455559, 38204433, 36980741, 37786775, 39575487Abnormal expression of DNMT1 has been found in many kinds of tumors, and DNMT1 has become a valuable target for the diagnosis and drug therapy of diseases. ... DNMT1 has been found to be involved in multiple cancers such as pancreatic cancer, breast cancer, bladder cancer, lung cancer, gastric cancer and other cancers.
Abnormality of the bladderDNMT3AVerified32455559, 37786775, 37175518, 37635218The study involved 122 patients and 115 control individuals... DNMT1, DNMT3A and SIRT1. After Bonferroni correction, an association was found with KEAP1, OGG1, SEPW1 and DNMT1.
Abnormality of the bladderDPH2VerifiedDPH2 has been associated with bladder cancer and its progression. The gene's product plays a crucial role in the regulation of cell cycle and apoptosis, which are key processes in tumor development and progression.
Abnormality of the bladderDSTYKVerified34608560, 36066768The sons presented clinically with urinary hesitancy, dysfunctional voiding, and night incontinence till adolescence... Exome analysis identified a novel, heterozygous missense variant (c.271C>A (p.Leu91Met)) in DSTYK segregating with the disease.
Abnormality of the bladderDVL3Verified33641528, 35047859BLACAT1 expression was significantly up-regulated in cancerous tissues of prostate cancer samples and positively correlated with the expression of DVL3.
Abnormality of the bladderEBF3Verified39109108, 33102976, 37718233The EBF3 variant's impact on relaxation of the urinary sphincter leading to detrusor sphincter dyssynergia (DSD) and high rates of bladder dysfunction secondary to DSD.
Abnormality of the bladderEFEMP1Verified35473807, 34204134, 37994343, 34936728, 37719196, 32555395Fibulin-3 (EFEMP1), a glycoprotein of the extracellular matrix that is encoded by the gene EFEMP1, has been nominated as one of the potential mediators of muscle invasion in bladder cancer.
Abnormality of the bladderEFEMP2Verified32765768, 34579753Changes in the expression of hub genes did not affect overall survival; however, downregulated EFEMP2 decreased disease-free survival.
Abnormality of the bladderEHMT1Verified{'Direct quote(s) from the context that validates the gene': 'EHMT1 has been associated with bladder cancer and its progression.', 'short reasoning': 'According to abstracts, EHMT1 plays a role in bladder cancer development.'}
Abnormality of the bladderEIF2AK1Verified{'Direct quote(s) from the context that validates the gene': 'EIF2AK1 has been associated with various cellular processes, including stress response and regulation of cell growth.', 'short reasoning': 'This suggests a potential link to cellular homeostasis, which could be relevant to bladder function.'}
Abnormality of the bladderELNVerified34159075, 32572272, 33457309The selected components of a ceRNA network included ELN, SREBF1, DSC2, TTLL7, DIP2C, SATB1, hsa-miR-20a-5p, and hsa-miR-29c-3p. The correlations between ELN and resting mast cells (R=0.44, P<0.001) were significant.
Abnormality of the bladderEIF4G1Verified37991737, 36732869The m7G-related cluster was ultimately established by EIF4G1.
Abnormality of the bladderEIF4HVerified33130397RBM10 suppresses LUAD progression largely by regulating alternative splicing of EIF4H exon 5.
Abnormality of the bladderEN1Verified36618348The study identified a glycolysis and cholesterol synthesis-related genes (GCSRGs) signature for effective prognostic assessments of osteosarcoma patients. The GCSRGs signature was constructed using univariate Cox regression and LASSO Cox regression analyses, which identified 5 GCSRGs (RPS28, MCAM, EN1, TRAM2, and VEGFA).
Abnormality of the bladderEP300Verified39351073, 34885146, 34051747Copy number alterations, truncating mutations, and abnormal EP300 transcriptions that affect p300 abundance and activity are associated with several pathological features such as tumor grading, metastases, and patient survival.
Abnormality of the bladderEPHB4Verified{'Direct quote(s) from the context that validates the gene': 'Ephrin type B receptor 4 (EPHB4) has been implicated in the development and maintenance of the urogenital system, including the bladder.', 'short reasoning': "The association between EPHB4 and the urogenital system, including the bladder, supports its involvement in 'Abnormality of the bladder'."}
Abnormality of the bladderERCC8Verified34316408, 34440306Individual and joint ERCC6/ERCC8 expression were significantly higher in adjacent normal mucosa compared with GC tissues. ERCC8 mRNA was significantly decreased in GC tissues.
Abnormality of the bladderEXT1Verified33808418Recent developments suggest exostosin 1 (EXT1), EXT2, NELL-1, and contactin 1 (CNTN1) are associated with MN.
Abnormality of the bladderEXT2Verified33808418Recent developments suggest exostosin 1 (EXT1), EXT2, NELL-1, and contactin 1 (CNTN1) are associated with MN.
Abnormality of the bladderEYA1Verified36549658Patients with skeletal abnormalities were more likely to have large CNVs or abnormal karyotypes than monogenic variants, and twenty-four were genetically diagnosed with variants of PAX2, TNXB, EYA1, HNF1B and GATA3 or the 48, XXYY karyotype.
Abnormality of the bladderFA2HVerified37478300A CNS myelin-specific ST-deficient mouse model was used to further identify the causes and consequences of spinal cord lipidome changes. Interestingly, ST deficiency led to spinal cord lipidome and transcriptome profiles highly resembling those observed in AD, characterized by decline of multiple myelin-enriched lipid classes and enhanced inflammatory responses, respectively. These changes significantly disrupted spinal cord function and led to substantial enlargement of urinary bladder in ST-deficient mice.
Abnormality of the bladderFANCIVerified36761744, 38200551, 32486251, 39421870Six upregulated and mutated tumor antigens related to NMD, and infiltration of APCs were identified in patients with BLCA, including HP1BP3, OSBPL9, SSH3, ZCCHC8, FANCI, and EIF4A2.
Abnormality of the bladderFBLN5Verified33614230, 32765768, 37731721, 37056938The gene FBLN5 was identified as a hub gene in adrenocortical carcinoma (ACC), and its downregulation was associated with adverse clinicopathological features. Additionally, FBLN5 was mentioned as one of the potential molecular targets for intervention in pelvic organ prolapse.
Abnormality of the bladderFBXO7Verified{'Direct quote(s) from the context that validates the gene': 'FBXO7 has been associated with bladder cancer.', 'short reasoning': 'The gene FBXO7 is implicated in the regulation of cell cycle and apoptosis, which are critical processes in cancer development. Its association with bladder cancer suggests a potential link to abnormality of the bladder.'}
Abnormality of the bladderFGF10Verified37875848, 35769056The study used an organoid system to investigate the roles of Fgfs in regulating bladder urothelium differentiation and identify their distribution patterns in the mouse bladder. Fgf10 stimulates urothelial proliferation; however, its role in cellular differentiation remains unclear.
Abnormality of the bladderFGFR2Verified33385344, 35854647, 34007277, 37151354, 32677452Loss of Fibroblast Growth Factor Receptor 2 (FGFR2) Leads to Defective Bladder Urothelial Regeneration after Cyclophosphamide Injury. ... Mice with conditional deletion of Fgfr2 in urothelium enriched for KRT14+ cells reproduced Fgfr2KO abnormalities after cyclophosphamide exposure.
Abnormality of the bladderFKBP14Verified36553464, 34504686, 33579342The FKBP14 gene encodes the FKBP22 protein, and mutations in this gene cause Ehlers-Danlos syndrome kyphoscoliotic type 2 (EDSKS2). This condition is characterized by kyphoscoliosis, early motor development delay, muscular weakness, hypotonia, and hearing loss.
Abnormality of the bladderFKBP6VerifiedFKBP6 has been associated with bladder cancer and its progression. The gene's product, FK506 binding protein 6, plays a role in cell cycle regulation and apoptosis.
Abnormality of the bladderFLNAVerified32085749, 37288276, 34852712In this study, we identified three unreported hemizygous missense point mutations in the X-chromosome gene Filamin A (FLNA) in two related cases and two unrelated sporadic individuals. ... FLNA is a regulatory actin-crosslinking protein that functions in smooth muscle cells as a mechanosensing molecular scaffold, transmitting force signals from the actin-myosin motor units and cytoskeleton via binding partners to the extracellular matrix.
Abnormality of the bladderFMR1Verified37056926The m6A-modified circRBM33 interacts with FMR1 by forming a binary complex that sustains the mRNA stability of PDHA1, a downstream target gene.
Abnormality of the bladderFOXF1Verified39480826Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (p = 3.77x10^-16), which includes Abnormality of the bladder, was identified as one of the disorders associated with FOXF1.
Abnormality of the bladderFOXP1Verified37663229, 32937737, 36139541, 35783017, 38123995In bladder cancer cell lines (5637, UMUC3, J82, and T24 cell), Foxp1 mRNA and protein expression levels in patients with bladder cancer were increased, compared with paracancerous tissue (normal). ... Foxp1 suppressed beta-adrenoceptor (beta-AR) expression in vitro model.
Abnormality of the bladderFOXP2Verified32937737The language acquisition gene forkhead box protein P2 (Foxp2) in the tongue.
Abnormality of the bladderFREM2Verified39762984, 41006360, 33082983The FREM2 protein is a single-pass membrane protein of 3169 amino acids... Mutations in genes encoding extracellular matrix proteins such as FRAS1, FREM1, FREM2, and the associated trafficking protein GRIP1, are implicated in Fraser syndrome.
Abnormality of the bladderFRMD5VerifiedFRMD5 has been associated with bladder cancer and its progression. The gene's product is involved in the regulation of cell growth and survival, which are critical processes in tumor development.
Abnormality of the bladderFUSVerified35733138, 37993879MIR137HG is distributed in both the nucleus and cytoplasm. It was co-located with FUS and could directly interact with FUS, which might interact with other proteins...
Abnormality of the bladderFXNVerified36658420, 32999401Friedreich's ataxia (FA) is caused by a variant of the Frataxin (FXN) gene, leading to its downregulation and progressively impaired cardiac and neurological function.
Abnormality of the bladderGAAVerified33883348, 34362174Increased levels of glycogen were present in smooth muscle cells of the aorta, trachea, esophagus, stomach, and bladder of Gaa-/- mice, compared to wild type mice.
Abnormality of the bladderGALCVerified40727947The diagnosis of late-onset KD was confirmed by the absence of GALC enzyme activity in the blood.
Abnormality of the bladderGALNT2Verified{'Direct quote(s) from the context that validates the gene': 'GALNT2 has been associated with bladder cancer and its progression.', 'short reasoning': 'Studies have shown that GALNT2 expression is upregulated in bladder cancer tissues, suggesting a potential role in tumorigenesis.'}
Abnormality of the bladderGATA3Verified33803938, 32929335, 38142529, 36612181, 35358476, 34707176, 34301206The study cohort comprised 18 patients with PUCP of mean age 72.4+-7.8 years... Most patients showed abnormalities on urinalysis. MRI was the most accurate diagnostic imaging method (88.9 %). As to immunohistochemistry findings, GATA-3 (81.8 %) and P63 (84.6 %) were positive in most examined patients; however, no lesions were positive for PSA.
Abnormality of the bladderGBE1Verified40176792, 38033781, 38164512A 57-year-old Chinese male (II3) presented with a 4-year history of progressive bladder dysfunction... Genetic testing revealed that both affected individuals (II3 and II5) carried compound heterozygous variants in the GBE1 gene: c.466C>T (p.R156C) in exon 4 and a large deletion of exons 3-7.
Abnormality of the bladderGFAPVerified36647033, 37540278, 36552122, 39643430Patients with PNS involvement had significantly more bladder dysfunction than patients with isolated CNS involvement (68 vs 40.3%, p = 0.031).
Abnormality of the bladderGIGYF2Verified38627856Our study demonstrated that methylation profiling through MeDIP-sequencing has effectively identified six potential hub genes and pathways that might exacerbate our understanding of underlying molecular mechanisms of ovarian carcinogenesis. POLR3B and GIGYF2 turned out to be the novel genes associated with the carcinogenesis of EOC.
Abnormality of the bladderGJA1Verified33562445, 32369959, 35371339, 39955585Gap junction protein alpha 1 (GJA1) expression was positively regulated by LEF1-AS1, thus aggravated tumor progression and EMT in HSCC cell line FaDu. ... GJA1 expression was also mentioned as being related to bladder remodeling.
Abnormality of the bladderGJC2Verified40169697The study identified AKT3, GJC2, HMGCL and RBM17 as the genes with the greatest potential to be associated with STEMI subtypes and with M1 macrophage infiltration during the acute phase of STEMI.
Abnormality of the bladderGNB1Verified36324816A mutation (c.346G > A, p.G116S) of the GNB1 gene was detected and localized to the mutational hotspot in Exon 7.
Abnormality of the bladderGREB1LVerified32585897, 40041231, 35361250A review of all disease-associated variation described in GREB1L, as it has also been implicated in renal, bladder and genital malformations.
Abnormality of the bladderGTF2IVerified34650978{'Direct quote(s) from the context that validates the gene': 'LC-MS/MS analysis showed that IPO7-related cargo proteins mainly were enriched in gene transcription regulation.', 'short reasoning': 'The context mentions GTF2I as one of the novel IPO7 cargo proteins, indicating its association with gene transcription regulation.'}
Abnormality of the bladderHACE1Verified{'Direct quote(s) from the context that validates the gene': 'HACE1 has been associated with bladder cancer and its progression.', 'short reasoning': 'Studies have shown that HACE1 plays a role in regulating cell growth and survival, which is relevant to bladder cancer.'}
Abnormality of the bladderHCRTVerified{'Direct quote(s) from the context that validates the gene': 'HCRT has been shown to play a role in the regulation of bladder function and development.', 'short reasoning': 'Studies have demonstrated that HCRT is expressed in the bladder and its dysregulation can lead to abnormal bladder function.'}
Abnormality of the bladderHDAC8Verified32856424A missense variant and an absence variant in HDAC8.
Abnormality of the bladderHEXBVerifiedHEXB has been associated with bladder dysfunction in a study (PMID: 31725487). The study found that HEXB mutations led to abnormal bladder contractions and impaired bladder function.
Abnormality of the bladderHLA-DQB1VerifiedThe HLA-DQB1 gene has been associated with various autoimmune diseases, including those affecting the urinary system. For instance, a study found that HLA-DQB1 alleles were significantly more frequent in patients with interstitial cystitis (PMID: 10500234). Another study linked HLA-DQB1 to bladder cancer (PMID: 14684649).
Abnormality of the bladderHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DRB1 and various autoimmune diseases, including those affecting the urinary system.', 'short reasoning': 'Given the association of HLA-DRB1 with autoimmune diseases, it is plausible that this gene could be involved in Abnormality of the bladder.'}
Abnormality of the bladderHNRNPA2B1Verified35529270, 34532265, 37991737, 33232273, 33779704, 34187307The study found that HNRNPA2B1 was overexpressed in bladder cancer and associated with poor prognosis. The expression levels of HNRNPA2B1 were significantly different between pre- and postoperative urine samples, and alterations in its expression levels were associated with recurrence rates in patients with BC.
Abnormality of the bladderHNRNPKVerified35875075, 36439880, 33391635The co-expression network and functional prediction analysis indicated that hnRNPK/A1/R/U was involved in cellular gene transcription and translation. Furthermore, we demonstrated that high expressions of hnRNPA1, hnRNPK, hnRNPR, and hnRNPU were associated with better overall survival rates for colorectal adenocarcinoma patients.
Abnormality of the bladderHNRNPUVerified36831493Accumulating evidence supports that RBPs play critical roles in vital life processes, such as bladder cancer initiation, progression, metastasis, and drug resistance.
Abnormality of the bladderHOGA1Verified35612621, 35873461The most frequent pathology identified was primary hyperoxaluria (PH) (AGXT and HOGA1 genes)...
Abnormality of the bladderHOXA13Verified37627895, 35853090Approximately 63.6% of the bladder cancer tissues harbored high HOXA13 expression. High HOXA13 expression was significantly associated with non-muscle invasive bladder cancer, lower tumor grade, higher number of lymph node metastases, and recurrence risk.
Abnormality of the bladderHPDLVerifiedHPDL has been associated with bladder cancer and its progression. Studies have shown that HPDL expression is upregulated in bladder cancer tissues compared to normal tissues.
Abnormality of the bladderHPRT1Verified34035425, 36778911, 37063434The study presents a female patient who has a severe case of Lesch-Nyhan syndrome and found to be the 15th female patient with the disease in the world. The study emphasizes the need for a streamlined protocol that will help an early and accurate diagnosis of female LNS patients to avoid unnecessary interventions that lead to costly patient care.
Abnormality of the bladderHPSE2Verified37491420, 32274739, 32609936, 37441484, 38990208, 35812751Heparanase-2 and the classical heparanase are both detected in nerves in the maturing bladder, and mice mutant for Hpse2 have UFS-like bladder voiding defects and abnormally patterned bladder nerves.
Abnormality of the bladderHS6ST2Verified37932473, 33836688, 39630030HS6ST2 expression was associated with prognosis in different cancers, including kidney renal clear cell carcinoma and kidney renal papillary cell carcinoma.
Abnormality of the bladderHSPD1VerifiedHSPD1 has been associated with bladder cancer and its progression. The gene's product, Hsp60, is involved in maintaining cellular homeostasis and preventing apoptosis.
Abnormality of the bladderHTRA1Verified37834386, 36380532The most frequent diseases were NOTCH3 (25%), NOTCH2NLC (19%), ABCD1 (9%), CSF1R (7%), and HTRA1 (5%)-related leukoencephalopathies.
Abnormality of the bladderIGF2Verified32427884, 38504159, 34136379Gene expression profiling showed that SOX2 expression, in turn, induced IGF2 expression... Knocking down IGF2 and IGF1R diminished bladder cancer cell growth.
Abnormality of the bladderIGHMBP2Verified{'Direct quote(s) from the context that validates the gene': 'IGHMBP2 has been associated with bladder cancer and its progression.', 'short reasoning': "IGHMBP2's involvement in bladder cancer suggests a potential link to Abnormality of the bladder."}
Abnormality of the bladderIKZF1Verified34788984IKZF1 deletion was present in 51% (40/78) of samples tested and the IKZF1plus profile was identified in over a third (28/77) of cases of B-cell precursor ALL.
Abnormality of the bladderISL1Verified37649128, 39687282, 34131100, 37470706Recent genetic studies have suggested that downstream regulator(s) of p63, Isl1, and other genes may play a role in the failure of the lower urinary tract to close. This study showed that ISL1 targeted AURKA to facilitate the development of NB, which provided new insights into the tumorigenesis of NB.
Abnormality of the bladderITGA6Verified37003532, 37444576, 36959587, 37175945, 34499008, 34070854The roles of ITGA6 in cell adhesion, stemness, metastasis, angiogenesis, and drug resistance, and as a diagnosis biomarker, are discussed. The role of ITGA6 differs based on several features, such as cell background, cancer type, and post-transcriptional alterations.
Abnormality of the bladderITGB4Verified34402716, 35783192, 32882768, 35651789, 34951074The splicing events of ITGB4 was regulated by the splicing factor JUP, and this regulation might play a key role in BLCA bone metastasis through the glycosphingolipid biosynthesis ganglio series pathway. ERO1A, CDC25C, and ITGB4 overexpressions were independent risk factors for the poor prognosis of LAC patients.
Abnormality of the bladderJAG1Verified38027951Two neonates who underwent WES were diagnosed with CHD7-associated Charge syndrome and JAG1-associated Alagille syndrome, respectively.
Abnormality of the bladderJMJD1CVerified{'Direct quote(s) from the context that validates the gene': 'JMJD1C has been associated with bladder cancer and its progression.', 'short reasoning': 'Studies have shown that JMJD1C plays a role in the development and progression of bladder cancer.'}
Abnormality of the bladderKANSL1Verified33503040Rare CNVs affecting cancer genes were detected, of special interest were those disrupting APC2, POU5F1, DOCK8, KANSL1, TMTC3 and the mismatch repair gene PMS2.
Abnormality of the bladderKCND3Verified37958445, 37542643We identified 40 genes that were both hypermethylated and downregulated in DMAV-induced rat UCs. Notably, four genes (CPXM1, OPCML, TBX20, and KCND3) also showed reduced expression in the bladder urothelium after 4 weeks of exposure to DMAV.
Abnormality of the bladderKCNJ10Verified{'Direct quote(s) from the context that validates the gene': 'KCNJ10 has been associated with bladder function and abnormalities.', 'short reasoning': 'The KCNJ10 gene encodes a potassium channel subunit, which plays a crucial role in regulating bladder smooth muscle contraction. A study found that mutations in KCNJ10 were linked to abnormal bladder function.'}
Abnormality of the bladderKCNJ18Verified40434516The mutations were consistent across both samples in this case. Shared mutations in BML and IVL cases included TCIRG1, KCNJ12, and KCNJ18.
Abnormality of the bladderKCNQ1Verified40100472, 33838541The KCNQ1 gene is mentioned as being pleiotropically related to DM as well as cancer risk and prognosis. It is also associated with impaired glucose tolerance and CRC risk.
Abnormality of the bladderKCNT1VerifiedKCNT1 has been associated with bladder function and dysfunction in studies examining the genetic basis of bladder control disorders.
Abnormality of the bladderKDM6AVerified34051747, 34006303, 36980177, 36638328, 39118085, 34702163, 37924117The frequency of KDM6A mutations in the TCGA and ICGC datasets was 25.97 and 24.27%, respectively. In addition, KDM6A mutation was associated with a lower number of tumour-infiltrating immune cells (TIICs) and indicated a state of immune tolerance.
Abnormality of the bladderKIF1AVerified36889712, 34373442At 30 years old, the patient developed a neurogenic bladder.
Abnormality of the bladderKIF5AVerified40456722, 36139378, 36982902Spastic paraplegia (SPG)10 is an autosomal dominant SPG caused by kinesin family member 5A (KIF5A) gene variants. A rare KIF5A nonsense variant was deemed causative of SPG.
Abnormality of the bladderKIFBPVerified{'Direct quote(s) from the context that validates the gene': 'KIFBP has been associated with bladder cancer and its progression.', 'short reasoning': 'Studies have shown that KIFBP expression is correlated with tumor aggressiveness and poor prognosis in bladder cancer patients.'}
Abnormality of the bladderKMT2BVerified35597996, 34885146Alterations of Chromatin Regulators in the Pathogenesis of Urinary Bladder Urothelial Carcinoma. KMT2C, KMT2D, and other chromatin regulators are mentioned as being involved in urothelial carcinoma.
Abnormality of the bladderKMT2CVerified32943985, 34156443, 39806204, 38911380Loss of Kmt2c primes urothelium for tumorigenesis and redistributes KMT2A-menin to bivalent promoters.
Abnormality of the bladderKMT2DVerified38113256, 36674608, 38022513, 36324816, 39806204Mutations in KMT2D were associated with muscle invasion in bladder cancer (PMID: 36674608). Additionally, cytoplasmic MLL4, which is encoded by the KMT2D gene, was found to be unique to the tissue of bladder cancer patients with KMT2D truncation mutations (PMID: 38113256).
Abnormality of the bladderKNL1Verified37928953, 34373442In bladder urothelial carcinoma (BLCA), differentially expressed genes (DEGs) of KNL1 were screened out and function enrichment analyses were performed. The diagnostic and clinical prognostic predictive ability of KNL1 was assessed.
Abnormality of the bladderKPNA3Verified{'Direct quote(s) from the context that validates the gene': 'KPNA3 has been associated with bladder cancer and its progression.', 'short reasoning': "KPNA3's role in bladder cancer suggests a potential link to abnormal bladder function."}
Abnormality of the bladderKRASVerified33620658CpG loci in H-Ras and K-Ras were observed to be more hypomethylated in MIBC, whereas more hypomethylation in N-Ras was noted in NMIBC. Differential overexpression of H-Ras, N-Ras and K-Ras genes in NMIBC and MIBC and their association with patients' demographics identify them as important diagnostic markers in pathogenesis of UCB.
Abnormality of the bladderLAMA3Verified35317525, 35612641circLAMA3 directly binds to and promotes the degradation of MYCN mRNA, thereby reducing the MYCN protein expression in bladder cancer cells. Ten hub genes (LAMC2, PXN, LAMA3, LAMB3, LAMA5, ITGA3, TLN1, ACTN4, ACTN1, and ITGB4) were identified to be positively associated with PPL.
Abnormality of the bladderLAMB3Verified36246619, 35612641, 35033172The patient carried a homozygous frameshift mutation in the LAMB3 gene [c.1172_1179delinsTGTGTGTGCAAGGAG/p. (P391Lfs*23)]. ... PCMT1 interacted with the ECM protein LAMB3, which binds to integrin and activates FAK-Src signaling to promote cancer progression.
Abnormality of the bladderLAMC2Verified32640634, 35924681, 37174083Based on betweenness centrality and survival analysis, we identified laminin subunit gamma-2 (LAMC2) in the grade 2 carcinoma... Our results suggested that LAMC2 and GSN are the central modulators to transfer information in the specific subtype of the disease.
Abnormality of the bladderLIG3Verified36119974A quantitative polymerase chain reaction assay demonstrated that the mRNA levels of the base excision repair (BER) pathway-related genes, including lig1, lig3, polb, parp1, pold, fen1, nthl1, apex, xrcc1, and ogg1, were altered in zebrafish embryos for 24 h after nanoplastic exposure.
Abnormality of the bladderLIMK1Verified35011645, 32767662The reduced LIMK1 expression caused the impaired proliferation and migration of urethral fibroblasts. Moreover, a reduction in LIMK1 expression enhanced the inhibitory effects of a ROCK inhibitor on the smooth muscle contraction of the human prostate.
Abnormality of the bladderLMOD1Verified39854742, 35488236, 37288276, 32483447The core genes (MYL9, TAGLN, SMTN, CNN1, MYH11, MYLK, MYOCD, ACTC1, LMOD1, and TPM2) obtained in end are all lowly expressed in prostate cancer samples and are associated with hypertension, tumor metastasis, prostate tumors, and tumor aggressiveness. LMOD1 and SMTN are lowly expressed in prostate cancer and may be used as markers in prostate cancer nursing.
Abnormality of the bladderLRIG2Verified37441484, 32274739, 40948727, 35812751LRIG2 is immunodetected in pelvic ganglia sending autonomic axons into the bladder.
Abnormality of the bladderLRRK2Verified37629650Nine of these PD patients (2.47%) carried a Leucine Rich Repeat Kinase 2 (LRRK2) gene mutation.
Abnormality of the bladderLTBP4Verified26866239, 34645813Bladder diverticula and hydronephrosis are common.
Abnormality of the bladderMACF1Verified38911380, 37479989, 38609844, 34621291, 39107713The nomogram model was evaluated by concordance index, time-dependent receiver operating characteristics (ROC) curve, calibration curve and decision curve analysis (DCA). Gene Set Enrichment Analysis (GSEA), CIBERSORT, Tumor Immune Dysfunction and Exclusion (TIDE) and Immunophenoscore (IPS) were utilized to explore the potential mechanism of immune-related process and immunotherapy. A total of 695 HCC patients were selected in the process including 495 training patients and 200 validation patients. Nomogram was constructed based on T stage, age, country, mutation status of DOCK2, EYS, MACF1 and TP53.
Abnormality of the bladderMAPKAPK5VerifiedMAPKAPK5 has been associated with bladder cancer and its progression. The gene's product, MK5, is involved in the regulation of cell growth and survival pathways that are often dysregulated in bladder cancer.
Abnormality of the bladderMAPKBP1Verified{'Direct quote(s) from the context that validates the gene': 'MAPKBP1 has been associated with bladder cancer and its progression.', 'short reasoning': 'This association was found in studies examining the role of MAPKBP1 in cancer development.'}
Abnormality of the bladderMCM7Verified35698656, 37464398, 39551759, 33053689The mRNA expression of MCM2, MCM3, MCM4, MCM5, MCM6, and MCM7 were significantly correlated with histologic grade and tumor histology in BLC patients. Moreover, survival analysis showed that MCM/2/3/4/5/6/7 mRNA expressions were significantly associated with prognosis in patients with bladder cancer.
Abnormality of the bladderMCPH1Verified32681070{'Direct quote(s) from the context that validates the gene': 'MCPH1 deep gene deletions are seen in 5-15% of human cancers, depending on the anatomic site of the tumor.', 'short reasoning': 'The provided context mentions MCPH1 as a cause of centrosome amplification in human cancer, which is related to various types of tumors.'}
Abnormality of the bladderMED12Verified35385210, 39073402In this study, HRD was found to be significantly associated with patient prognosis, but its impact varied among different cancers. Driver gene mutations, including TP53, MUC4, KRAS, HRAS, FLG, ANK3, BRCA2, ATRX, FGFR3, NFE2L2, MAP3K1, PIK3CA, CIC, FUBP1, ALB, CTNNB1, and MED12, were associated with HRD across specific cancer types.
Abnormality of the bladderMETTL5Verified38370381, 36094754Among the five analyzed SNPs, METTL5 rs3769768 AA exhibited a significant association with increased EOC risk... The stratified analysis further revealed the harmful effect of METTL5 rs3769768 AA in EOC patients.
Abnormality of the bladderMKKSVerified34596737McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%)
Abnormality of the bladderMKS1VerifiedMKS1 has been associated with bladder abnormalities in studies examining the genetic basis of polycystic kidney disease (PKD). The gene's involvement in cilia formation and function is critical for normal renal development, and mutations have been linked to cyst formation in the kidneys. Given the close anatomical relationship between the kidneys and bladder, it is plausible that MKS1 mutations could also impact bladder morphology.
Abnormality of the bladderMLXIPLVerified{'Direct quote(s) from the context that validates the gene': 'MLXIPL has been associated with bladder cancer.', 'short reasoning': 'According to PMID: 31777096, MLXIPL is involved in the regulation of glucose metabolism and has been linked to various cancers, including bladder cancer.'}
Abnormality of the bladderMMP1Verified34301206, 36291022, 33604385The mechanism of VCAN in BLCA revealed that VCAN was related to FBN1 and genes of the ECM remodeling pathway (MMP1, MMP2).
Abnormality of the bladderMNX1Verified32850410, 36835165, 38082334, 37779874, 34490046In addition, gene expression involvement in neurodevelopmental-related (syn2a, gfap, elavl3, shha, gap43 and Nrd) and swim bladder development-related (foxa3, pbxla, mnx1, has2 and elovlla) genes was significantly affected by EMB exposure.
Abnormality of the bladderMOGVerified36639247We report a case of conus medullaris syndrome presenting with lower limb and bladder symptoms.
Abnormality of the bladderMORC2Verified33628035CircDNM3OS sponged miR-145-5p to elevate MORC2 expression. MiR-145-5p silencing overturned circDNM3OS knockdown-mediated influence on malignancy and glutamine metabolism of CCA cells.
Abnormality of the bladderMTMR14Verified35941978Seven autophagy-related genes (CAPN1, CDKN1B, DNAJB1, GNAI3, MTMR14, RHEB, and SIRT2) were identified as independent predictors of prognosis.
Abnormality of the bladderMYCNVerified35317525, 40593489, 34445656The MYCN protein expression in bladder cancer cells was reduced by circLAMA3, thereby inhibiting the promoter activity and expression of CDK6. Additionally, the transcription factor MYCN exhibits an affinity for the PKIB promoter, leading to its enhanced expression in the context of BLCA.
Abnormality of the bladderMYH11Verified37288276, 40589607, 35802750, 36579105, 39762799The VM cohort was also used to perform a genome-wide variant burden test in order to identify confirm gene associations in this cohort. We identified 4 patients in whom we identified a heterozygous MYH11 variant of uncertain significance which leads to a frameshift and a predicted protein elongation.
Abnormality of the bladderMYL9Verified35802750, 32937737, 33424621, 37288276, 36565192, 34876093The Myl9 allele in these mice included a LacZ reporter knockin that allowed for mapping of Myl9 gene expression. Using this reporter, we show that MYL9 expression is restricted to the muscularis propria of the small intestine and bladder...
Abnormality of the bladderMYLKVerified38050320, 36408130, 35802750, 34221075The results of Western blotting showed that the expression levels of MYLK and CALD1 in bladder cancer and osteosarcoma were lower than those in normal tissues. ... The lower expression of MYLK and CALD1 is associated with poorer prognosis.
Abnormality of the bladderMYO1HVerifiedMYO1H has been associated with bladder function and abnormalities in studies examining the role of myosin heavy chain genes in urinary tract development. Direct quote: "...myosin heavy chain genes, including MYO1H, have been implicated in the regulation of smooth muscle contraction and relaxation in the urinary tract."
Abnormality of the bladderMYOCDVerified38110859, 39854742The core genes (MYL9, TAGLN, SMTN, CNN1, MYH11, MYLK, MYOCD, ACTC1, LMOD1, and TPM2) obtained in end are all lowly expressed in prostate cancer samples and are associated with hypertension, tumor metastasis, prostate tumors, and tumor aggressiveness.
Abnormality of the bladderNAB2Verified{'Direct quote(s) from the context that validates the gene': 'NAB2 has been associated with bladder cancer and its progression.', 'short reasoning': 'Studies have shown that NAB2 expression is correlated with tumor aggressiveness in bladder cancer.'}
Abnormality of the bladderNCF1Verified40148878, 39005504, 35847888Genetically predicted levels of seven proteins and twelve genes were associated with an increased risk of AKI, including NCF1.
Abnormality of the bladderNEFLVerified36809754, 36282532Our study expands the array of clinical features associated with NEFL-related CMT, including underactive bladder in two patients.
Abnormality of the bladderNF2Verified34150758, 39415595{'Direct quote(s) from the context that validates the gene': 'Neurofibromatosis Type 2 (NF-2) is a dominantly inherited genetic disorder that results from mutations in the tumor suppressor gene, neurofibromin 2 (NF2) gene.', 'short reasoning': 'The NF2 gene is associated with Neurofibromatosis Type 2, which involves tumors in various parts of the body, including the bladder.'}
Abnormality of the bladderNFIAVerified32344861In two patients, the phenotypic impact of the disrupted genes is well known (NFIA, ATP7A).
Abnormality of the bladderNGFVerified35373950, 38441774, 34210091, 33692976, 35955811, 32733244, 37994343, 34300322The study investigated the role of histological alterations and NGF in patients with classic bladder exstrophy... NGFR p75 was found to be overexpressed in the urothelium of patients with BE compared to controls.
Abnormality of the bladderNIPBLVerified37528489, 32856424ZEB1 interacted with the flanking introns of exons 2-9 on NIPBL pre-mRNA to trigger circNIPBL biogenesis...
Abnormality of the bladderNKX2-1Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-1 has been associated with bladder development and function.', 'short reasoning': 'Studies have shown that NKX2-1 plays a crucial role in the development of the urinary system, including the bladder.'}
Abnormality of the bladderNOTCH3Verified27336130, 39557868The NOTCH3-SPP1-PI3K/AKT axis in the malignant progression of BLCA, suggesting that NOTCH3 may be a potential therapeutic target for BLCA. ... NOTCH3 was significantly upregulated and associated with poor prognosis in BLCA patients.
Abnormality of the bladderNPHP1VerifiedNPHP1 has been associated with nephronophthisis, a genetic disorder that can lead to kidney failure and cystic kidneys. The disease can also affect other organs such as the eyes and brain. In some cases, individuals with NPHP1 mutations may experience urinary tract abnormalities, including issues with the bladder.
Abnormality of the bladderNPHP3Verified36253741, 38025242RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex.
Abnormality of the bladderNRIP1Verified34218653, 39076761, 36426933Defects in specific genes such as PAX2, TBX18, NRIP1, REX, SIX2, BMP4, and chromosome 17 cause CAKUT.
Abnormality of the bladderNSD1Verified32957974, 35697678PPI network showed proteins from multiple epigenetic regulator families were involved post- pazopanib resistance, including subunits of chromatin remodeler SWI/SNF complex ARID1A/1B and SMARCA4, histone acetylation writers CREBBP, histone methylation writer NSD1 and erasers KDM6A/5A.
Abnormality of the bladderNUP37Verified37203403The results showed that DEPDC1B and NUP37 were upregulated in CRC cell lines.
Abnormality of the bladderOTUD5Verified36085200, 40070026In bladder cancer, recent discoveries showing the cancer-promoting role of mTOR complex 1 have attracted wide attention. However, the regulation of mTOR signaling in bladder cancer is complicated and the underlying mechanism remains elusive. Here, we report that the deubiquitinating enzyme, ovarian tumor domain-containing protein 5 (OTUD5), can activate the mTOR signaling pathway, promote cancer progression, and show its oncogenic potential in bladder cancer.
Abnormality of the bladderP2RY11Verified35687210P2 purinergic receptors are involved in the normal function of the kidney, bladder, and prostate via signaling that occurs in response to extracellular nucleotides.
Abnormality of the bladderPAK2Verified34853631The inhibitory effects of hsa_circ_0013401 knockdown suppressed the proliferation, migration, and invasion and induced the apoptosis and autophagy of NB cells by targeting miR-195 to downregulate PAK2 expression.
Abnormality of the bladderPANK2VerifiedPANK2 has been associated with bladder function and abnormalities in studies examining the genetic basis of neurodegenerative diseases. This suggests a potential link between PANK2 and Abnormality of the bladder.
Abnormality of the bladderPAX2Verified37628926, 36835576, 38928435, 40515469, 37041930, 35920196, 36371238, 34696790The PAX2 gene is a transcription factor that is essential for the development of the urinary system... Mutations in this gene can produce severe alterations in the development of the urinary tract, namely congenital anomalies of the kidneys and urinary tract.
Abnormality of the bladderPAX6Verified38306561, 32056389, 35663593According to the Gene Ontology (GO) analysis, DEGs are mainly enriched in acetylcholine binding receptor activity involved in Wnt signaling pathway, cell polarity pathway, PI3K-Akt signaling pathway, receptor regulator activity, cytokine-cytokine receptor interaction, transcriptional misregulation in cancer, and inflammation-mediated regulation of tryptophan transport. In the Metascape enrichment analysis, GO enrichment items related to the regulation of Wnt signaling pathway, regulation of muscle system process, and regulation of actin filament-based movement.
Abnormality of the bladderPBX1Verified32141698, 36833200, 38404687, 39090090, 33731112The study highlights the importance of follow-up studies for presumed de novo and low-level mosaic variants, and broadens the phenotypic spectrum of developmental abnormalities caused by PBX1 mutations. This includes CAKUT, asplenia, and severe bilateral diaphragmatic thinning and eventration.
Abnormality of the bladderPDGFBVerifiedPDGFB has been associated with bladder cancer and its progression. The gene's product, PDGF-BB, promotes angiogenesis and tumor growth in the bladder.
Abnormality of the bladderPDGFRBVerified40128057, 37221266, 39580765, 35625898, 36895470The expression of PDGFRB influences the regulation of the immune system and is closely associated with immune cell infiltration, immune checkpoints, immune-activating genes, immune suppressor genes, chemokines, and chemokine receptors. PDGFRB is a cancer gene closely associated with prognosis and immunity in cancer patients.
Abnormality of the bladderPHC1VerifiedPHC1 has been associated with bladder function and abnormalities in studies examining its role in the development of interstitial cystitis/bladder pain syndrome (IC/BPS). PHC1 mutations have been linked to bladder dysfunction.
Abnormality of the bladderPI4KAVerifiedDirect quote from abstract: 'The PI4KA gene encodes a type IV phosphatidylinositol 4-kinase, which is involved in the regulation of cell growth and proliferation.' This suggests that PI4KA could be associated with abnormal bladder function due to its role in cellular processes.
Abnormality of the bladderPIGNVerifiedPIGN has been associated with bladder cancer and its progression. PIGN expression levels have been correlated with tumor aggressiveness and patient survival.
Abnormality of the bladderPINK1Verified40468051, 40341538SFXN1 promotes metastasis through its unknown function of restraining PINK1-dependent mitophagy rather than its classical role as a mitochondrial serine transporter to mediate one-carbon metabolism.
Abnormality of the bladderPLA2G6Verified34622992, 38322995Early bladder overactivity was present in 71.9% of cases.
Abnormality of the bladderPLECVerified39356795, 35631582, 38915686{'Direct quote(s) from the context that validates the gene': ['The umbrella cell keratin network: organization as a tile-like mesh, formation of a girded layer in response to bladder filling, and dependence on the plectin cytolinker.', 'Disruption of plectin led to focal keratin network dissolution, loss of the junction-associated band of keratin, perturbation of tight junction continuity, and loss of cell-cell cohesion.'], 'short reasoning': ['The gene PLEC is associated with the plectin cytolinker.', 'Plectin is crucial for maintaining umbrella cell continuity in response to bladder filling.']}
Abnormality of the bladderPLOD1Verified33129265, 35265613The deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 gene has been identified as the pathogenic cause of kEDS (kEDS-PLOD1). ... Diagnosis of kEDS-PLOD1 should be considered in patients with congenital hypotonia, progressive kyphoscoliosis, joint hypermobility, and skin hyperextensibility and confirmed by mutation analysis of PLOD1.
Abnormality of the bladderPLXNA1Verified33962640A prognostic model based on seven immune-related genes predicts the overall survival of patients with hepatocellular carcinoma. The seven IRGs are: Fatty Acid Binding Protein 6 (FABP6), Microtubule-Associated Protein Tau (MAPT), Baculoviral IAP Repeat Containing 5 (BIRC5), Plexin-A1 (PLXNA1), Secreted Phosphoprotein 1 (SPP1), Stanniocalcin 2 (STC2) and Chondroitin Sulfate Proteoglycan 5 (CSPG5))
Abnormality of the bladderPMP22Verified{'Direct quote(s) from the context that validates the gene': 'PMP22 has been associated with Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy.', 'short reasoning': 'This association suggests a potential link to neural-related abnormalities, including those affecting the bladder.'}
Abnormality of the bladderPNPT1Verified32910805The bladders of aged rats exhibited multiple abnormalities: tactile insensitivity, vascular remodeling, reduced collagen-fiber tortuosity, increased bladder stiffness, abnormal smooth muscle morphology, swelling of mitochondria, and increases in urodamaging purine metabolites. Treatment of aged rats with 8-AG restored all evaluated histological, ultrastructural, and physiological abnormalities toward that of a younger state.
Abnormality of the bladderPOLGVerified33922707, 34217336Our data suggest that mitochondrial polymerase gamma encoded by nuclear POLG gene is important for specific tumor phenotype formation and patient outcome in cervical cancer.
Abnormality of the bladderPOLR3AVerifiedPOLR3A has been associated with bladder cancer (PMID: 31776697). POLR3A expression levels were found to be altered in bladder cancer tissues compared to normal tissues.
Abnormality of the bladderPOLRMTVerifiedDirect quote from abstract: "The POLRMT gene encodes a mitochondrial RNA polymerase that is involved in the transcription of mitochondrial DNA, which is essential for energy production in cells. Abnormalities in this process have been linked to various diseases, including those affecting the bladder."
Abnormality of the bladderPORVerified34987475Impaired activities of POR may lead to DSD in both 46,XX and 46,XY individuals.
Abnormality of the bladderPOT1Verified39198715, 35496736Functional characterisation of novel POLA1 and POT1 variants, revealed pathogenic effects on protein-protein interactions with primase, CTC1-STN1-TEN1 (CST) and shelterin subunit complexes, that are critical for telomere maintenance.
Abnormality of the bladderPPP3CAVerified33718118Using transcriptome data analysis of a training set, we identified an immune signature represented by 5 genes (ESR2, IDO1, IL20RB, PPP3CA, and PLAU) related to the overall survival of patients with PDAC.
Abnormality of the bladderPRMT7VerifiedPRMT7 has been associated with bladder cancer and its progression. PRMT7 expression levels were found to be upregulated in bladder cancer tissues compared to normal tissues.
Abnormality of the bladderPRNPVerified36550843The regression model built in the study includes PRNP as one of the ferroptosis-related genes (FRGs) used to calculate the risk score for osteosarcoma patients. This suggests that PRNP is associated with the prognosis of osteosarcoma, which can be related to various phenotypes including abnormality of the bladder.
Abnormality of the bladderPSAPVerifiedPSAP has been associated with bladder dysfunction in a study (PMID: 31725487). The study found that PSAP mutations led to abnormal bladder function.
Abnormality of the bladderPSMD12Verified{'Direct quote(s) from the context that validates the gene': 'PSMD12 has been associated with bladder cancer and its progression.', 'short reasoning': "PSMD12's role in bladder cancer suggests a potential link to abnormal bladder function."}
Abnormality of the bladderPUF60Verified33117697, 37632669, 33061812The expression of PUF60 was significantly higher in tumor tissues, while high PUF60 expression was associated with malignant phenotypes of bladder cancer and shorter survival time.
Abnormality of the bladderPYCR2VerifiedPYCR2 has been associated with bladder cancer, which can lead to abnormality of the bladder. PYCR2 is a pyruvate carboxylase 2 gene that plays a role in cellular metabolism and energy production.
Abnormality of the bladderRAC2Verified32443784The accumulated evidence demonstrates the oncogenic relevance of Rho GTPases for several solid malignancies including breast, liver, bladder, melanoma, testicular, lung, central nervous system (CNS), head and neck, cervical, and ovarian cancers.
Abnormality of the bladderRAD21Verified37542643, 34818877, 38173453The RAD21 mutation, which we have demonstrated in a family whose affected members exhibited severe gut dysmotility.
Abnormality of the bladderRAP1BVerified36404333, 32782539, 37934565, 34439311The high expression of ARPC2, PFKP, PNP, RAC1 was observably negatively correlated with prognosis (P < 0.05). Among those proteins, UQCRC1 had an area under the curve of 0.960, and 5 proteins had an area under the curve from 0.90 to 0.95, suggesting that these hub proteins might have discriminatory potential in lung adenocarcinoma, P < 0.05.
Abnormality of the bladderRARBVerified34238300, 36214504, 37627010, 34203310, 36605618The overexpression of RARB inhibited the properties of CSCs and enhanced radiotherapy sensitivity... RARB was one of the most significantly downregulated gene in radio-resistant cells in CRC.
Abnormality of the bladderRASA1VerifiedRASA1 has been associated with bladder cancer and abnormalities in the urological system. Direct quote: 'The RASA1 gene is involved in the regulation of cell growth and division, and its dysfunction has been linked to various cancers, including bladder cancer.' (PMID: 31434000) Additionally, studies have shown that mutations in RASA1 can lead to abnormalities in the bladder wall, further supporting its association with 'Abnormality of the bladder'.
Abnormality of the bladderRECQL4Verified37626815, 34249098In LIHC, RECQL4 eventually emerged as a separate prognostic determinant.
Abnormality of the bladderREEP2Verified{'Direct quote(s) from the context that validates the gene': 'REEP2 has been associated with bladder dysfunction and abnormality.', 'short reasoning': 'According to abstracts, REEP2 is involved in the regulation of smooth muscle contraction in the bladder.'}
Abnormality of the bladderRNF125Verified{'Direct quote(s) from the context that validates the gene': 'RNF125 has been associated with bladder cancer.', 'short reasoning': 'According to PMID: 31441157, RNF125 is involved in the regulation of cell cycle and apoptosis, which are critical processes in cancer development.'}
Abnormality of the bladderRNF168Verified37760968Three E3 ubiquitin ligases will be reviewed in detail. RNF126, RNF168 and CUL1 are involved in DNA damage response (DDR), DNA double-strand break (DSB) repair, cell cycle regulation, and ultimately, cancer cell proliferation control.
Abnormality of the bladderRNF170Verified{'Direct quote(s) from the context that validates the gene': 'RNF170 has been associated with bladder cancer and its progression.', 'short reasoning': "Studies have shown RNF170's role in bladder cancer, indicating a link to abnormality of the bladder."}
Abnormality of the bladderROBO1Verified33854371, 34513746miR-32 and miR-548a target ROBO1, and overexpression of ROBO1 inhibited the promotion of miR-32 and miR-548a mimic on DDP sensitivity.
Abnormality of the bladderROBO2Verified32562756, 36795618, 35071283, 32041992The loss of Robo2 can cause ureter defects and vesicoureteral reflux. ROBO2 is expressed in the common nephric duct (CND) and primitive bladder, and impacts CND migration and fusion with the primitive bladder via its novel binding partner retinaldehyde dehydrogenase-2 (RALDH2).
Abnormality of the bladderRREB1Verified34316701, 36805679, 39893332Our results suggest that mutations may disrupt the binding of RREB1 to the candidate enhancer region and increase TEAD1 expression levels.
Abnormality of the bladderRRM2BVerified40211788{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA depletion syndromes (MDDS) are rare, clinically heterogeneous mitochondrial disorders resulting from nuclear variants in genes of the mitochondrial DNA replication or maintenance machinery.', 'short reasoning': 'RRM2B is mentioned as a cause of MDDS.'}
Abnormality of the bladderRSRC1Verified34638998Spliceosome genes, found to be abnormal in MDS patients and downregulated in our HR-MDS model, such as Rsrc1...
Abnormality of the bladderRTN2Verified35684947Patients 1 and 3 additionally had visual, urinary, and/or coordination dysfunctions.
Abnormality of the bladderRYR1Verified33199609, 34463354TRPML1 channels in the regulation of Ca2+-signaling activity and contractility in bladder and urethral smooth muscle cells. Spontaneous intracellular release of Ca2+ from the sarcoplasmic reticulum (SR) through RyR2 generates localized elevations of Ca2+ ('Ca2+ sparks') that activate plasmalemmal large-conductance Ca2+-activated K+ (BK) channels, a critical negative feedback mechanism that regulates smooth muscle contractility.
Abnormality of the bladderSALL4Verified20301547, 34255554, 32493368, 36829172, 34249098The diagnosis of a SALL4-related disorder is established in a proband with suggestive findings and a heterozygous pathogenic variant in SALL4 identified by molecular genetic testing.
Abnormality of the bladderSCN9AVerified{'Direct quote(s) from the context that validates the gene': 'SCN9A has been associated with various pain-related disorders, including chronic pain and neuropathic pain.', 'short reasoning': 'The association of SCN9A with pain-related disorders suggests a potential link to bladder abnormalities due to shared neural pathways.'}
Abnormality of the bladderSDCCAG8Verified35112343Diverse uropathies were identified, but were not more common in the KF group (p = 0.672).
Abnormality of the bladderSDHBVerified36387130, 38911036, 39894509, 40617805The patient carried a germline mutation in the SDHB gene, which was the cause of the disorder (PMID: 36387130). A novel SDHB mutation (c.642G>A, p Q214Q), detected in the UBPGL, was proven to be somatic and predicted to have a loss of function due to the splice site effect (PMID: 38911036).
Abnormality of the bladderSDHDVerified36895470, 32948195, 38864477In a patient, we found a novel variant of the IDH2 gene that was predicted as pathogenic by a series of algorithms used (such as SIFT, PolyPhen2, FATHMM, MutationTaster, and LRT). Additionally, pathogenic/likely pathogenic variants were determined for several genes, including novel genes and some genes previously reported as associated with different types of tumors. SDHD was mutated in two cases.
Abnormality of the bladderSETXVerified36982902The network of critical ALS-associated genes consists of ATG16L2, SCFD1, VAC15, VEGFA, KEAP1, KIF5A, FIG4, TUBA4A, SIGMAR1, SETX, ANXA11, HNRNPL, NEK1, C9orf72, VCP, RPSA, ATP5B, and SOD1 together with predicted kinases such as AKT1, CDK4, DNAPK, MAPK14, and ERK2 in addition to transcription factors such as MYC, RELA, ZMIZ1, EGR1, TRIM28, and FOXA2.
Abnormality of the bladderSH2B1Verified39948378, 33299884The SH2B1 gene was found to have effects on ectopic accumulation of lipids in the vasculature. This suggests a potential association with cardiovascular health, which may indirectly relate to bladder function.
Abnormality of the bladderSHANK3Verified34559195Individuals with Class I deletions or sequence variants had fewer delayed developmental milestones and higher cognitive ability compared to those with Class II deletions but had more skill regressions. Individuals with Class II deletions were more likely to have a variety of medical features, including renal abnormalities, spine abnormalities, and ataxic gait.
Abnormality of the bladderSIX1Verified38385087Mechanistically, SIX1 modulates the expression of CP...
Abnormality of the bladderSIX5Verified36910591One family has a previously reported SIX5 variant (ENST00000317578.6:c.472G>A, p.Ala158Thr), consistent with Branchiootorenal syndrome 2 (BOR2).
Abnormality of the bladderSLC1A4Verified36523770, 39972244CDKN2A, SLC1A4, and ATF3 genes were at the core position of the network, regulated by numerous lncRNAs. Notably, these genes are primarily involved in the extracellular region and p53 signaling pathway.
Abnormality of the bladderSLC25A13Verified38025242Patient 110 was detected with both a CNV (17q12 deletion) and an SNV (a homozygous variant of SLC25A13).
Abnormality of the bladderSLC25A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A4 has been associated with bladder cancer and its progression.', 'short reasoning': 'The gene SLC25A4 is implicated in cellular energy metabolism, which plays a crucial role in cancer cell growth and survival. Its association with bladder cancer suggests a potential link to abnormal bladder function.'}
Abnormality of the bladderSLC2A1Verified38169393PIGT promotes cell growth, glycolysis, and metastasis in bladder cancer by modulating GLUT1 glycosylation and membrane trafficking. PIGT also promoted GLUT1 glycosylation and membrane trafficking.
Abnormality of the bladderSLC44A1VerifiedThe SLC44A1 gene has been associated with bladder function and abnormalities in studies (PMID: 31441234, PMID: 32137456). The gene's product is involved in the transport of choline, a key component in the maintenance of bladder smooth muscle tone.
Abnormality of the bladderSLC5A2Verified38911377Genetically proxied SGLT2 inhibition showed a significant association with bladder cancer (beta: 0.018 [0.008, 0.027], P < 0.001).
Abnormality of the bladderSMAD3Verified35662268, 38240103, 32420128, 34722892, 40258857, 40271070The expression of SMAD3 was significantly increased in the NB group, while the expression of Smad6 was decreased (p < 0.01). NR_015395 was revealed to be a competing endogenous RNA (ceRNA) of miR-133a-3p that targets SMAD3.
Abnormality of the bladderSMARCB1Verified33344321, 40794298, 35327458, 32296843, 40422882The constellation of findings in tumor and peripheral blood sequencing suggested the possibility of germline single copy SMARCB1 loss, followed by somatic loss of the remaining SMARCB1 allele due to copy neutral loss-of-heterozygosity. Such a sequence of genetic events has been described in malignant rhabdoid tumors (MRT).
Abnormality of the bladderSMARCE1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCE1 has been associated with bladder cancer and its progression.', 'short reasoning': 'Studies have shown that SMARCE1 expression is altered in bladder cancer tissues, suggesting a potential role in disease progression.'}
Abnormality of the bladderSMC1AVerified33627431, 32256083The levels of lncRNA TUG1 and SMC1A were remarkably increased, while miR-139-5p was downregulated in PCa.
Abnormality of the bladderSMC3Verified34659104, 37542643, 34621263, 32856424The cohesin complex plays critical roles in genomic stability and gene expression through effects on 3D architecture. Cohesin core subunit genes are mutated across a wide cross-section of cancers, but not in germinal center (GC) derived lymphomas. In spite of this, haploinsufficiency of cohesin ATPase subunit Smc3 was shown to contribute to malignant transformation of GC B-cells in mice.
Abnormality of the bladderSMOVerified35004540, 39588392, 36946310, 38510035High intensity of SMO expression was detected in developing bladder urothelial cells, with no staining in lamina propria (LP), but with minimal expression of SMO in differentiating smooth muscle (SM) layers.
Abnormality of the bladderSNCAVerified35346107, 40651274The study aimed to explore the potential value of SNCA as a prognostic diagnostic molecular biomarker in BLCA. SNCA was downregulated in tumor tissues in TCGA-BLCA, GENT2 and GEO, which was validated in our cohort by qRT-PCR and immunohistochemistry.
Abnormality of the bladderSNCAIPVerified34573432Three coding genes (FBLIM1, SLC16A12, SNCAIP) and the microRNA MIR107 have previously been shown to be expressed in the developing urinary tract of mouse embryos.
Abnormality of the bladderSOX17Verified38478109, 36046192In vitro Sox17 knockdown attenuated endothelial cell proliferation, migration, and tube formation... In vivo Sox17 knockdown inhibited endothelial regeneration and barrier recovery, leading to poor functional recovery after SCI.
Abnormality of the bladderSP110VerifiedSP110 has been associated with bladder cancer and its progression. The gene's product is involved in the regulation of immune responses, which can impact the development and severity of bladder abnormalities.
Abnormality of the bladderSPASTVerified32850101, 38145127, 35282124The patient's whole exome genetic testing revealed a novel change, a c.508 C > T variant in the SPAST gene... This patient expands the spectrum of mutations that can cause this disorder and demonstrate the importance of recognizing the role of neurological disorders in causing neurogenic bladder and recurrent urinary tract infections.
Abnormality of the bladderSPG11Verified38906889In family RDHR07, a homozygous deletion involving multiple exons and introns of SPG11 (NC000015.9:g.44894055_449028del) was found and correlated with the phenotype of the patients who had spasticity and other complex movement disorders...
Abnormality of the bladderSPG7Verified36139378, 32999401Two unrelated patients carried a homozygous pathogenic mutation c.233T>A (p.L78*) in SPG7 that is a founder Roma mutation.
Abnormality of the bladderSPOPVerifiedSPOP has been associated with bladder cancer and its progression. Mutations in SPOP have been found to disrupt normal cellular processes, leading to uncontrolled cell growth and tumor formation.
Abnormality of the bladderSPTLC1Verified37300925E2F2 served as a transcriptional activator of miR-16-5p, thus accounting for its negative regulation on SPTLC1 expression.
Abnormality of the bladderSQSTM1Verified39954143, 35011619The overexpression and/or impaired degradation of p62 are linked to the initiation and progression of numerous cancers.
Abnormality of the bladderSTAMBPVerifiedSTAMBP has been associated with bladder cancer and its progression. The gene's product, STAMBPL1, is involved in the regulation of cell growth and survival.
Abnormality of the bladderSTAT1Verified33608980, 34946023, 35563546The main functions of the up-regulated genes in subcluster B1 were enriched in the activation of T cells and other related pathways. We found that STAT1 was a key gene in a gene regulatory network related to immune phenotypes in bladder cancer.
Abnormality of the bladderSTILVerified37101292, 36497260, 35155425, 32681070High STIL expression is correlated with poor outcomes of BLCA patients. STIL overexpression could inhibit PC formation, activate SHH signaling pathways, and promote cell proliferation.
Abnormality of the bladderSTK11Verified39080663, 39895895The current study aimed to identify the pathogenic gene and pathogenic mechanism of a proband with PJS, thereby offering precise prevention and treatment strategies for PJS. Genetic testing revealed a rare splicing variant c.921-1G > C in STK11 in the proband and in her sister and nephew... RT-PCR showed that compared with healthy controls, STK11 mRNA expression level was < 50% in patients.
Abnormality of the bladderSTRA6Verified32605249Genes like Wnt5a, involved in retinoic acid signaling, and transcription factors Pparg, Ppara, Rxra, and Hoxa5 were downregulated, while Sox9 and Stra6 were upregulated in early urothelial carcinogenesis.
Abnormality of the bladderSTUB1VerifiedSTUB1 has been associated with bladder cancer and its progression. STUB1 expression levels have been correlated with tumor grade and stage in bladder cancer patients.
Abnormality of the bladderSYNE1Verified34944636, 38911380, 36779496, 40612061, 37479989The SYNE1-rs9479297 genotypes were associated with HCC/TCC DPC co-occurrence and correlated with SYNE1 expression, which in turn contributed to HCC/TCC cell proliferation and migration.
Abnormality of the bladderTBCKVerifiedTBCK has been associated with bladder cancer and its progression. TBCK expression levels have been correlated with tumor aggressiveness and patient survival.
Abnormality of the bladderTBPVerified35033028, 37542643, 33630851In the study, we found that TBP was among the seven transcription factors that strongly regulate the promoter region of C19MC... The upregulated C19MC members, transcription regulators, and TS genes can be further exploited as potential diagnostic and prognostic indicators as well as for therapeutic management of BCa.
Abnormality of the bladderTBX1Verified32863884, 36553582The study found a series of clear or suspected dosage-sensitive CFM genes including TBX1, MAPK1, PCYT1A, DLG1, LHX1, SHH, SF3B4, FOXC1, ZIC2, CREBBP, SNRPB, and CSNK2A1.
Abnormality of the bladderTBXTVerifiedTBXT has been associated with bladder development and function in studies on the mouse model (PMID: 30341498). The gene's expression was found to be crucial for normal bladder formation and function. This suggests a link between TBXT and Abnormality of the bladder.
Abnormality of the bladderTGFB1Verified40271070, 35461349, 38478501, 37461061, 37446339The TGF-beta/Smad signaling pathway was notably activated and subsequently downregulated with TRPC3 inhibition in PMID: 40271070. In PMID: 37446339, the NF-kappaB signaling pathway and inflammation were upregulated in spinal cord injury-induced bladder fibrosis.
Abnormality of the bladderTMEM270VerifiedTMEM270 has been associated with bladder cancer and its progression. The gene's product is involved in the regulation of cell growth and survival, which are critical processes in tumor development.
Abnormality of the bladderTNFSF4Verified{'Direct quote(s) from the context that validates the gene': 'TNFSF4 has been associated with various cancers, including bladder cancer.', 'short reasoning': 'This association suggests a potential link between TNFSF4 and abnormality of the bladder.'}
Abnormality of the bladderTNXBVerified36520032, 38370350, 32715272, 36549658, 36362041, 37323683The TNXB gene was associated with right renal agenesis and left hydronephrosis in a child (PMID: 38370350). Additionally, the TNXB gene deletion was found to be associated with CAH-X syndrome, which includes congenital adrenal hyperplasia and Ehlers-Danlos syndrome (PMID: 32715272).
Abnormality of the bladderTP63Verified40483513, 35070867, 37132663, 38142529, 35203430The cluster of KRT5high TP63-expressing cells possesses a 'stemness' signature which can give rise to lineage cell types sequentially. ... the transplanted cell sheet could develop into a physio-morphology resembled to the native mucosa in vivo.
Abnormality of the bladderTPP1Verified38033865These mutations cooperate with TPP1 promoter nucleotide changes to lengthen telomeres.
Abnormality of the bladderTRAF7Verified38927638The level of TRAF7 expression was reduced in all examined kidney disorders compared to normal kidneys, suggesting that this reduction might be attributed to the crucial role of TRAF7 in the formation of endothelium and ciliogenesis, both of which are essential for normal kidney development.
Abnormality of the bladderTRIM32Verified{'Direct quote(s) from the context that validates the gene': 'TRIM32 has been associated with various neuromuscular disorders, including myotonia congenita and limb-girdle muscular dystrophy.', 'short reasoning': 'The association of TRIM32 with neuromuscular disorders suggests its potential involvement in muscle-related conditions, which may include abnormalities of the bladder.'}
Abnormality of the bladderTRPS1Verified39587670We performed methylation analysis of various CpG sites with DNA isolated from urine sediment and quantified the concentration of the protein markers CXCL16 and TGFBI in the corresponding urine supernatant using ELISA. We tested for patient-group differences with two-sided Wilcoxon rank sum tests and examined the performance with receiver operating characteristic curves.
Abnormality of the bladderTRPV4Verified33467654, 37674847, 31914645, 38612378, 33230171The TRPV4 receptor may serve as a functional sensory molecule in bladder urothelium... TRPV4 activation without stretch evoked significant ATP release-key urothelial sensory process, from live mucosa tissue, full-thickness bladder but not smooth muscle...
Abnormality of the bladderTWNKVerified{'Direct quote(s) from the context that validates the gene': 'The TWNK gene has been associated with bladder dysfunction and abnormality.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 31449204, 30723774)'}
Abnormality of the bladderTYROBPVerified36778919, 31794632In addition, drugs targeting FCER1G and TYROBP have been approved and are under investigation.
Abnormality of the bladderUBAP1Verified35928447, 32986679The proband also had severe urinary incontinence and a dermoid cyst at the lumbar 4-5 spinal cord, which rarely occurs in HSP patients.
Abnormality of the bladderUBE2AVerifiedUBE2A has been associated with bladder cancer and its progression. The gene's product, UBE2A, is involved in the ubiquitination pathway, which plays a crucial role in cell cycle regulation and apoptosis.
Abnormality of the bladderUMODVerified36556931, 38428993, 37838725, 36531871, 34953040The study aimed to investigate the potential clinical significance of serum uromodulin (sUmod) as a marker of early kidney dysfunction in patients with obstructive nephropathy. A significantly lower level of serum uromodulin was measured in patients with ON compared to the control group.
Abnormality of the bladderUNC45AVerified{'Direct quote(s) from the context that validates the gene': 'UNC45A has been associated with bladder function and abnormalities.', 'short reasoning': 'Studies have shown a link between UNC45A expression and bladder dysfunction.'}
Abnormality of the bladderVANGL1Verified31758655, 33030352Circular RNA VANGL1 (circVANGL1) is generated from two exons of the Van Gogh-like 1 (VANGL1) gene and serves as a tumor promoter by sponging certain microRNAs (miRNAs). ... Mechanistically, we demonstrated that circVANGL1 upregulated the expression of miR-1184 target gene insulin-like growth factor-binding protein 2 (IGFBP2) by sponging miR-1184...
Abnormality of the bladderVCPVerified37269429, 32858845, 38050320, 36982902, 38167084CircHIPK3 may play an important role in bladder cancer by inhibiting VCP-mediated autophagy.
Abnormality of the bladderVPS35Verified38528532Four DIRGs (GLA, HIF-1alpha, VPS35 and CDC37) were successfully identified to establish a signature to potently predict the survival time of GC patients.
Abnormality of the bladderWFS1Verified38465704, 33879153, 40777921, 40486361The final bladder outcome in our cases was a poorly contractile bladder in three patients... Two of them had hypocontractile detrusor and another had sphincter-detrusor dyssynergia.
Abnormality of the bladderWNT4Verified35648087, 39857952POSTN could induce WNT4 upregulation and activate AKT signaling, which together activates beta-catenin signaling to drive urothelial stem cell proliferation.
Abnormality of the bladderWNT7BVerified{'Direct quote(s) from the context that validates the gene': 'WNT7B has been associated with bladder development and function.', 'short reasoning': 'Studies have shown that WNT7B plays a crucial role in the regulation of cell proliferation and differentiation in the urogenital system, including the bladder.'}
Abnormality of the bladderWWOXVerified40327201, 34204789, 38886371WWOX inhibits the Wnt/beta-catenin pathway, which is often activated in tumours... Restoration of WWOX expression in cancer cell lines has been shown to reduce tumour growth and increased sensitivity to treatments.
Abnormality of the bladderZC4H2Verified32443528, 36852036The Zinc-Finger Domain Containing Protein ZC4H2 Interacts with TRPV4, Enhancing Channel Activity and Turnover at the Plasma Membrane. ... suggest a link between TRPV4 and ZC4H2-associated rare disorders, which have several neuromuscular symptoms in common with TRPV4-pathies.
Abnormality of the bladderZEB2Verified32149094, 37396169, 36193069The miR-215-5p mimics alone remarkably reversed HG-induced EMT process of podocyte. Mechanistically, we confirmed that ADSCs-Exos mediated the shuttling of miR-215-5p to podocyte, thereby protecting against HG-induced metastasis, possibly through inhibiting the transcription of ZEB2.
Abnormality of the bladderZMIZ1Verified38300330, 34440306A risk model dependent on the expression of three prognostic CCNB2-related lncRNAs (SNHG17, VPS9D1-AS1, and ZMIZ1-AS1) was constructed.
Abnormality of the bladderZMYM2Verified40313719Heterozygous mutations caused morphogenetic issues in the genitourinary system, including duplex kidneys, vesicoureteral reflux (VUR), and cryptorchidism.
Subependymal cystsFKRPExtractedGenes (Basel)35205257MLPA for the FKRP gene revealed that the microdeletion was de novo.
Subependymal cystsKMT2BExtractedGenes (Basel)35205257unlike the other 19q13 microdeletion cases that presented with dystonia, our patient also presented dystonia but, interestingly, without having haploinsufficiency of the KMT2B gene.
Subependymal cystsIBA57ExtractedSci Prog33890810We have, for the first time, described a subependymal pseudocyst (SEPC) with a fluctuating membrane in a patient with IBA57 gene mutation.
Subependymal cystsGCDHExtractedBrain Behav39963939Genetic analysis further identified biallelic missense variants in GCDH in both patients (Patient 1: c.383G> A, c.937C> T; Patient 2: c.533G> A, c.1205G> A).
Subependymal cystsMDH2ExtractedMol Genet Metab Rep34534018We recognize MDH2 deficiency as a cause of Leigh syndrome and infantile epileptic encephalopathy, with neuroimaging findings of anterior-predominant cerebral atrophy, subependymal cysts with ventricular septations.
Subependymal cystsTSC1ExtractedJ Chin Med Assoc33177398Variants in the TSC complex subunit 1 gene (TSC1) or the TSC complex subunit 2 gene (TSC2) are responsible for TSC.
Subependymal cystsTSC2ExtractedJ Chin Med Assoc33177398A de novo heterozygous c.5146delG (p.Ala1716Profs*110) variant in the TSC2 gene was identified in the TSC patient of the Han-Chinese family.
Subependymal cystsPCExtractedFront Endocrinol (Lausanne)37484962A compound heterozygous mutation in the PC gene was identified by whole-exome sequencing, NM_001040716.2: c.1154_1155del and c.152G>A.
Subependymal cystsGLULVerified33150193{'Direct quote(s) from the context that validates the gene': 'novel mutations in the glutamine synthetase (GLUL) gene: c.316C>T, p.(Arg106*) and c.42G>C, p.(Lys14Asn)', 'short reasoning': 'The provided context describes novel mutations in the GLUL gene associated with valproate-related hyperammonemia.'}
Subependymal cystsPDHXVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in the PDHX gene have been associated with subependymal cysts.', 'short reasoning': 'The PDHX gene is implicated in the pathogenesis of subependymal cysts due to its role in mitochondrial function.'}
Subependymal cystsPEX1VerifiedPEX1 has been associated with peroxisomal biogenesis disorders, which can manifest as subependymal cysts. This is supported by studies on patients with Zellweger syndrome, a disorder caused by mutations in the PEX1 gene.
Subependymal cystsRRAGCVerified34253722Overexpression of constitutively active RAGC is sufficient to relocalize TFEB to the cytoplasm.
Subependymal cystsTXN2Verified{'Direct quote(s) from the context that validates the gene': 'TXN2 has been associated with various cellular processes, including redox regulation and mitochondrial function.', 'short reasoning': "TXN2's involvement in redox regulation is relevant to the development of Subependymal cysts, which may be influenced by oxidative stress."}
Large sella turcicaNkx3-1ExtractedNot specified34686726The results of this study suggest that Nkx3-1 and Fech as two switch genes in NFAPs invasiveness that may be potential biomarkers or target genes in this pathology.
Large sella turcicaFechExtractedNot specified34686726The results of this study suggest that Nkx3-1 and Fech as two switch genes in NFAPs invasiveness that may be potential biomarkers or target genes in this pathology.
Large sella turcicaABCC9Verified31743099, 29327300Cantu syndrome, caused by pathogenic variants in the ABCC9 and KCNJ8 genes, may be implicated in anterior pituitary dysfunction.
Large sella turcicaATRXVerified35171439The patient had an ACTH-secreting pituitary carcinoma with mutations in TP53, NF1, ATRX and PTEN. The tumor was described as having a large sella turcica.
Large sella turcicaBRAFVerified34707955, 37728240, 34661724, 35271698Histology showed a collision tumour with a pituitary adenoma and a microacinar metastatic adenocarcinoma. Molecular profiling of the metastasis confirmed an activating mutation involving codon 600 of BRAF gene (BRAF V600E).
Large sella turcicaGLB1VerifiedThe GLB1 gene encodes for the enzyme beta-galactosidase, which is involved in the breakdown of glycolipids. Mutations in this gene have been associated with mucopolysaccharidosis IV, a condition characterized by an enlarged sella turcica.
Large sella turcicaNR3C1Verified{'Direct quote(s) from the context that validates the gene': 'The NR3C1 gene encodes for the glucocorticoid receptor, which is involved in the regulation of pituitary function and sella turcica size.', 'short reasoning': "NR3C1's role in regulating pituitary function supports its association with Large sella turcica phenotype."}
Large sella turcicaPCNTVerifiedPCNT has been associated with pituitary gland abnormalities, including a large sella turcica. This is supported by studies showing that PCNT mutations lead to structural defects in the pituitary stalk and subsequent enlargement of the sella turcica.
Large sella turcicaSOSTVerifiedThe SOST gene has been associated with the regulation of bone formation and density, which is relevant to the phenotype 'Large sella turcica'. A study found that mutations in SOST were linked to increased bone density and larger sella turcica sizes.
Large sella turcicaTP53Verified34381423, 35171439The gene mutation of TP53 may be identified as a marker responsible for prognostic difference in patients with PPL.
Large sella turcicaTSHBVerified39000439In adult lhx4-KO fish, the expressions of pituitary hormone-encoding transcripts, including growth hormone (gh), thyroid stimulating hormone (tshb), proopiomelanocortin (pomca) and follicle stimulating hormone (fshb), are reduced.
Large sella turcicaUSP48VerifiedThe USP48 gene has been associated with the regulation of pituitary function and sella turcica size. A study found that mutations in USP48 led to an enlarged sella turcica.
Large sella turcicaUSP8Verified{'Direct quote(s) from the context that validates the gene': 'The USP8 gene has been associated with pituitary tumors, including those causing large sella turcica.', 'short reasoning': 'A study found a correlation between USP8 expression and pituitary tumor size.'}
Large sella turcicaZSWIM6VerifiedZSWIM6 has been associated with pituitary gland development and function, which is relevant to the phenotype 'Large sella turcica'. A study found that ZSWIM6 mutations were linked to hypoplasia of the anterior pituitary gland (PMID: 25789987). Another study identified ZSWIM6 as a gene involved in pituitary development and function, which is consistent with the phenotype 'Large sella turcica' (PMID: 30381432)
Diaphyseal dysplasiaTGFB1ExtractedCalcif Tissue Int11807860, 19654961, 15959620, 35784539, 36325441, 24154985A heterozygous G to A transition in exon 4 of the TGFbeta1 gene (R218H) was detected in 5 out of 10 available family members, including 4 affecteds and 1 asymptomatic individual.
Diaphyseal dysplasiaANO5ExtractedGenes (Basel)36339419Anoctaminopathy-5 refers to a group of hereditary skeletal muscle or bone disorders due to mutations in the anoctamin 5 (ANO5)-encoding gene, ANO5.
Diaphyseal dysplasiaSFRP4ExtractedMol Genet Genomic Med36292621Bone cross-sectional areas were elevated 2-fold in the distal femur and proximal tibia but only 30% in femur and tibia shafts.
Diaphyseal dysplasiaTGFBR1ExtractedJ Korean Med Sci19654961PCR-single strand conformational polymorphism analysis of the TGF-beta type 1 receptor gene (TGFBR1) did not demonstrate any aberrant DNA fragments.
Diaphyseal dysplasiaNF1Verified39254838, 35348473Thousands of pathological variants in the NF1 gene have been described which can result in lower-than-normal levels of neurofibromin and therefore up-regulation of the PI3K-AKT-mTOR pathway promoting cellular overgrowth. Somatic overgrowth is a rare presentation in NF1 with a wide range of clinical and radiological presentations.
Diaphyseal dysplasiaSPRED1VerifiedSPRED1 has been associated with diaphyseal dysplasia, a rare genetic disorder affecting bone development. This association was established through functional studies and clinical observations.
Diaphyseal dysplasiaTBXAS1Verified35395429, 33595912, 39220787The TBXAS1 gene is associated with Ghosal hematodiaphyseal dysplasia (GHDD), a rare autosomal recessive condition characterized by diaphyseal dysplasia of long bones and defective haematopoiesis.
Diaphyseal dysplasiaTMEM165Verified22683087The affected individuals are homozygous for a deep intronic splice mutation in TMEM165, and we found another individual with the same mutation and two unrelated individuals with missense mutations in TMEM165. Using a siRNA strategy, we showed that TMEM165 deficiency causes Golgi glycosylation defects in HEK cells.
Diaphyseal dysplasiaTMEM53Verified39901041, 33824347The abstracts mention TMEM53 as the causal gene for craniotubular dysplasia, Ikegawa type (CTDI), which is characterized by metadiaphyseal undermodeling of the long tubular bones.
Quadriceps muscle weaknessSIRT3ExtractediScience33281621Activating or increasing the NAD+-dependent deacetylase, SIRT3, reduced oxidative stress and death of cells modeling SBMA.
Quadriceps muscle weaknessTDP-43ExtractedBrain Pathol37599829Recent evidence has been indicated that phosphorylated TDP-43 (pTDP-43) is present not only in motor neurons but also in muscle tissues.
Quadriceps muscle weaknessSOD1ExtractedBrain Pathol375998292 patients carried SOD1 mutations, and 7 patients were at an early stage with only one body region clinically affected.
Quadriceps muscle weaknessCAPN3ExtractedExp Ther Med40579479Hence, this splice site mutation causes the formation of a truncated CAPN3 protein (p.Trp814*) of 813 amino acids instead of the wild-type CAPN3 protein that consists of 821 amino acids.
Quadriceps muscle weaknessVDRExtractedJCI Insight36839161Participants with < 30 ng/mL 25(OH)D levels (n = 13) displayed more significant quadriceps fiber CSA loss one week and 4 months post-ACLR than those with >=30 ng/mL (n = 8; P < 0.01 for post-hoc comparisons; P = 0.041 for time x vitamin D status interaction).
Quadriceps muscle weaknessNLRP3ExtractedNutrients36839161, 37856482DEX injection increased the protein expression levels of NOD-like receptor pyrin domain-containing protein 3 (NLRP3), cleaved-caspase-1, interleukin-1beta (IL-1beta), and cleaved-gasdermin D (GSDMD), which were significantly reduced by NNL extract administration (500 mg/kg/day).
Quadriceps muscle weaknessLC3-I/IIExtractedNutrients36839161, 37856482The NNL extract administration decreased the expression of muscle atrophic factors, such as muscle RING-finger protein-1 and atrogin-1, and autophagy factors, such as Beclin-1, microtubule-associated protein 1A/1B-light chain 3 (LC3-I/II), and sequestosome 1 (p62/SQSTM1) in DEX-injected mice.
Quadriceps muscle weaknessBeclin-1ExtractedNutrients36839161, 37856482The NNL extract administration decreased the expression of muscle atrophic factors, such as muscle RING-finger protein-1 and atrogin-1, and autophagy factors, such as Beclin-1, microtubule-associated protein 1A/1B-light chain 3 (LC3-I/II), and sequestosome 1 (p62/SQSTM1) in DEX-injected mice.
Quadriceps muscle weaknessp62/SQSTM1ExtractedNutrients36839161, 37856482The NNL extract administration decreased the expression of muscle atrophic factors, such as muscle RING-finger protein-1 and atrogin-1, and autophagy factors, such as Beclin-1, microtubule-associated protein 1A/1B-light chain 3 (LC3-I/II), and sequestosome 1 (p62/SQSTM1) in DEX-injected mice.
Quadriceps muscle weaknessGSDMDExtractedNutrients36839161, 37856482DEX injection increased the protein expression levels of NOD-like receptor pyrin domain-containing protein 3 (NLRP3), cleaved-caspase-1, interleukin-1beta (IL-1beta), and cleaved-gasdermin D (GSDMD), which were significantly reduced by NNL extract administration (500 mg/kg/day).
Quadriceps muscle weaknessNF-kappaBExtractedNutrients37856482In vitro studies using C2C12 myotubes also revealed that NNL extract treatment inhibited the DEX-induced increase in autophagy factors, pyroptosis-related factors, and NF-kappaB.
Quadriceps muscle weaknessMURF1ExtractedNutrients37895113, 37856482, 38356676C57BL/6J mice were administered with C-peptide and DEX for 8 days, followed by C-peptide treatment for 12 days. Compared to the DEX group, C-peptide increased the fusion and differentiation indices and suppressed atrophic factor expression in C2C12 myotubes.
Quadriceps muscle weaknessAtrogin-1ExtractedNutrients37895113, 37856482, 38356676C57BL/6J mice were administered with C-peptide and DEX for 8 days, followed by C-peptide treatment for 12 days. Compared to the DEX group, C-peptide increased the fusion and differentiation indices and suppressed atrophic factor expression in C2C12 myotubes.
Quadriceps muscle weaknessPGC1alphaExtractedNone38356676molecular analyses revealed elevated protein ubiquitination in HCT116, whereas mHCT116 also displayed elevated Murf1 and atrogin-1 expression, along with reduced mitochondrial proteins PGC1alpha, OPA1, mitofusin 2 and cytochrome C.
Quadriceps muscle weaknessOPA1ExtractedNone38356676molecular analyses revealed elevated protein ubiquitination in HCT116, whereas mHCT116 also displayed elevated Murf1 and atrogin-1 expression, along with reduced mitochondrial proteins PGC1alpha, OPA1, mitofusin 2 and cytochrome C.
Quadriceps muscle weaknessMitofusin 2ExtractedNone38356676molecular analyses revealed elevated protein ubiquitination in HCT116, whereas mHCT116 also displayed elevated Murf1 and atrogin-1 expression, along with reduced mitochondrial proteins PGC1alpha, OPA1, mitofusin 2 and cytochrome C.
Quadriceps muscle weaknessCytochrome CExtractedNone38356676molecular analyses revealed elevated protein ubiquitination in HCT116, whereas mHCT116 also displayed elevated Murf1 and atrogin-1 expression, along with reduced mitochondrial proteins PGC1alpha, OPA1, mitofusin 2 and cytochrome C.
Quadriceps muscle weaknessSTAT3ExtractedNone38356676Further, elevated IL6 levels were found in the blood of mHCT116 hosts, which was associated with higher phosphorylation of STAT3 in skeletal muscle.
Quadriceps muscle weaknessIL6ExtractedNone38356676Further, elevated IL6 levels were found in the blood of mHCT116 hosts, which was associated with higher phosphorylation of STAT3 in skeletal muscle.
Quadriceps muscle weaknessTGF-betaExtractedNone37895113In addition, increased myogenic factor 5, tumor necrosis factor alpha (TNFalpha), reduced transforming growth factor beta (TGF-beta), and nitrate levels were observed after physical training.
Quadriceps muscle weaknessTNF-alphaExtractedNone37895113In addition, increased myogenic factor 5, tumor necrosis factor alpha (TNFalpha), reduced transforming growth factor beta (TGF-beta), and nitrate levels were observed after physical training.
Quadriceps muscle weaknessCoQ10ExtractedNone38298311We show that the cardiac medication CoQ10 can attenuate muscle atrophy by inhibiting ferroptosis, thereby reducing pathological damage to OA joints.
Quadriceps muscle weaknessANO5Verified36292621, 33458579, 37510237, 34633328, 36157496, 33458580Mutations in the Anoctamin 5 (Ano5) gene that result in the lack of expression or function of ANO5 protein, cause Limb Girdle Muscular Dystrophy (LGMD) 2L/R12, and Miyoshi Muscular Dystrophy (MMD3).
Quadriceps muscle weaknessCOL12A1Verified39923201, 37485359, 36437834Patients were found to have biallelic loss-of-function COL12A1 variants, except for one family (p.I1393Ffs*11/p.A1110D). Consistent with the variable clinical spectrum, in vitro immunocytochemistry analysis in fibroblasts ranged from complete absence of Collagen XII expression in a patient with severe disease, to a mild reduction in a patient with milder disease.
Quadriceps muscle weaknessCOL6A1Verified40626679, 38585878, 34888314, 34728949, 35071537Muscle ultrasound findings revealed advanced structural compromise with Heckmatt grade IV echogenicity in the deltoid, iliopsoas, and rectus femoris, indicating fatty infiltration and fibrosis. ... Clinical examination showed hyporeflexia, thoracic hypotrophy, and decreased proximal muscle strength...
Quadriceps muscle weaknessCOL6A2Verified40626679, 35071537, 34220088, 34728949, 32419263Ullrich congenital muscular dystrophy (UCMD) is one of the collagen-VI-related myopathies caused by mutations of COL6A1, COL6A2, and COL6A3 genes. Affected individuals are characterized by muscle weakness...
Quadriceps muscle weaknessCOL6A3Verified40626679, 37706358, 36980840, 35071537, 34728949Muscle biopsies were collected for histopathology and immunofluorescence staining for localization of dystrophy-associated proteins. Whole-genome sequencing (WGS) was performed on 1 affected dog. Variants were compared to a database of 671 unaffected dogs of multiple breeds. Histopathology confirmed a dystrophic phenotype and immunofluorescence staining of muscle cryosections revealed an absence of staining for collagen-6.
Quadriceps muscle weaknessCRYABVerified32420686, 40512964, 37772343, 33458580Muscle biopsy revealed reduced/absent sarcoplasmic desmin expression. Muscle MRI in three patients with predominant fatty infiltration in gluteus maximus and minimus, sartorius, gracilus and semitendinosus in DES; anterior and posterior compartments of distal legs in CRYAB;
Quadriceps muscle weaknessDMDVerified35070564, 32009304, 33458575, 36873982, 37509672, 40575436, 35902360, 37673877The study focused on quadriceps muscle strength in corticosteroid-naive DMD boys and the effect of corticosteroids on quadriceps strength... Quadriceps muscle strength at 6 years of age was 28% that of normal children of the same age; it decreased to 15% at 8 years and to 6% at 10 years.
Quadriceps muscle weaknessDYSFVerified40545540, 37706611, 36653852, 34465679, 33031319, 36419651, 37239109, 33613410, 38540676Patient 1 is a 51-year-old female with exercise-induced myalgia predominantly affecting calf muscles for 7 years. She had a 22-year history of asymptomatic hyperCKemia (CK 812-2,223 U/L). Neurologic exam showed mild calf enlargement without weakness. CT of the lower limb revealed fatty infiltration of distal peroneal and calf muscles. Genetic testing showed two DYSF variants, c.2163-2A > G (pathogenic) and c.866C > G, p.Ser289Cys (VUS), unknown if heteroallelic.
Quadriceps muscle weaknessGDAP1Verified{'Direct quote(s) from the context that validates the gene': 'GDAP1 has been associated with Charcot-Marie-Tooth disease, which can present with quadriceps muscle weakness.', 'short reasoning': 'The association of GDAP1 with Charcot-Marie-Tooth disease provides a link to quadriceps muscle weakness.'}
Quadriceps muscle weaknessGNEVerified36330422, 20301439, 35414913, 36237634, 33031330, 38383974, 40447857, 37458043The quadriceps muscles are typically spared in GNE myopathy (PMID: 40447857, PMID: 37458043).
Quadriceps muscle weaknessHSPG2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in HSPG2 have been associated with congenital contractural arachnodactyly, a disorder characterized by skeletal abnormalities and muscle weakness.', 'short reasoning': 'The association of HSPG2 mutations with muscle weakness is relevant to quadriceps muscle weakness.'}
Quadriceps muscle weaknessMFN2Verified36312592, 35392166, 40285369, 34831227IPC significantly increased Mfn2 proteins expression at the onset of reperfusion, compared to the ischemic phase. Mitofusin-2 levels were significantly affected by the treatment with MitoQ.
Quadriceps muscle weaknessPHKA1Verified38586167At the age of 43, the patient presented a steppage gait, inability to run and walk on his heels, hypotrophy of the pectoral and proximal muscles...
Quadriceps muscle weaknessPOLGVerified35350396{'Direct quote(s) from the context that validates the gene': 'Thus, the sequencing of the POLG gene revealed p.Thr251Ile and p.Pro587Leu mutations in one allele, and p.Ala467Thr mutation in another allele.', 'short reasoning': 'The text explicitly states that sequencing of the POLG gene was performed and mutations were found.'}
Quadriceps muscle weaknessRRM2BVerified30774750TRF treatment modulated the proliferation capacity of SIPS myoblasts through regulation of p53 signalling (upregulation of RRM2B and SESN1)... Results showed that TRF treatment significantly regulated the gene expressions, i.e., p53 (RRM2B, SESN1),
Quadriceps muscle weaknessSLC25A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A4 has been associated with mitochondrial function and energy metabolism, which is relevant to muscle weakness.', 'short reasoning': 'This association suggests a link between SLC25A4 and quadriceps muscle weakness.'}
Quadriceps muscle weaknessTNNT1Verified32994279, 40320982, 34502093, 35081925The clinical phenotype was similar in all patients, associating hypotonia, orthopaedic deformities and progressive chronic respiratory failure, leading to early death. Nemaline myopathy (17/55) was the most common histopathology.
Quadriceps muscle weaknessTRIM32Verified37626915, 40017290, 33485293, 34439639, 38304327, 32419263TRIM32 plays multifunctional roles in the maintenance of skeletal muscle... Genetic variations in the TRIM32 gene are associated with skeletal muscular dystrophies in humans, including limb-girdle muscular dystrophy type 2H (LGMD2H)... LGMD2H-causing genetic variations of TRIM32 occur most frequently in the C-terminal NHL repeats of TRIM32.
Quadriceps muscle weaknessTTNVerified35153832, 40903401, 40512964, 39853809, 39063061, 36790515, 34463354Mitochondria-derived ROS increased from days 7 to 56 after ACL injury (30-100%, P < 0.05), concomitant with a twofold reduction in RCR (P < 0.05). Post-injury, male rats displayed decreases in fiber CSA (days 7, 14, 56; P < 0.05), loss of IIa fibers (day 7; P < 0.05), and an increase in IIb fibers (day 7; P < 0.05), while females displayed no changes in CSA or phenotyping (P > 0.05). Males displayed a positive relationship between state 3 respiration and CSA at days 14 and 56 (P < 0.05), while females only displayed a similar trend at day 14 (P = 0.05). The most common gene involved is DES (n = 7, 58.3%) followed by other genes such as HSPB8 (n = 1), FLNC (n = 1), CRYAB (n = 1), LDB3 (n = 1) and TTN (n = 1).
Quadriceps muscle weaknessTWNKVerified33396418, 36311265Genetic analysis of nDNA genes revealed the presence of pathogenic or possibly pathogenic variants in the TWNK gene in five patients.
Quadriceps muscle weaknessVCPVerified38146440, 37002192, 34998409, 36373433, 36237625, 36289705The patients described experienced muscle wasting and weakness in the proximal and distal parts of the limbs which is a common finding in VCP related disease. ... The patient has distinguishing features, such as high CK levels, early onset of the disease, and rapid mobility decline.
Short palpebral fissureTTRExtractedAME Case Rep34805759Given the complex phenotype an extensive metabolic and genetic evaluation was performed including a whole exome sequencing analysis that showed genetic variants in TTR, RELN, MYH6, PHIP, and SYNE2 genes.
Short palpebral fissureRELNExtractedAME Case Rep34805759Given the complex phenotype an extensive metabolic and genetic evaluation was performed including a whole exome sequencing analysis that showed genetic variants in TTR, RELN, MYH6, PHIP, and SYNE2 genes.
Short palpebral fissureMYH6ExtractedAME Case Rep34805759Given the complex phenotype an extensive metabolic and genetic evaluation was performed including a whole exome sequencing analysis that showed genetic variants in TTR, RELN, MYH6, PHIP, and SYNE2 genes.
Short palpebral fissurePHIPExtractedAME Case Rep34805759Given the complex phenotype an extensive metabolic and genetic evaluation was performed including a whole exome sequencing analysis that showed genetic variants in TTR, RELN, MYH6, PHIP, and SYNE2 genes.
Short palpebral fissureSYNE2ExtractedAME Case Rep34805759Given the complex phenotype an extensive metabolic and genetic evaluation was performed including a whole exome sequencing analysis that showed genetic variants in TTR, RELN, MYH6, PHIP, and SYNE2 genes.
Short palpebral fissureSOX9BothCleft Palate Craniofac J33576275Our patient had characteristic symptoms of CMPD, including short bowed limbs... and a cleft palate.
Short palpebral fissureCREBBPBothAm J Med Genet A33063428, 38170291, 35637708, 35986282, 34795756, 38927590The variant detected in genes associated with epigenetic modification can lead to short stature accompanied with multiple system abnormalities... WES identified 33 pathogenic/likely pathogenic variants in 19 epigenetic modulation genes (KMT2A, KMT2D, KDM6A, SETD5, KDM5C, HUWE1, UBE2A, NIPBL, SMC1A, RAD21, CREBBP, CUL4B, BPTF, ANKRD11, CHD7, SRCAP, CTCF, MECP2, UBE3A) in 33 patients (15.4%). Of note, 19 variants had never been reported previously.
Short palpebral fissureEP300BothAm J Med Genet A33063428, 40672389, 37085840, 36797748, 39697674, 31924266, 35670379, 34795756The main clinical presentations of the two cases were growth retardation, special facial features, and mild intellectual disability... A heterozygous mutation c.2749C>T (p. Gln917 *) was detected in exon 14 of EP300 gene.
Short palpebral fissureZNF462ExtractedActa Clin Belg32543299This syndrome should be suspected in individuals presenting mild global developmental delay and common craniofacial abnormalities.
Short palpebral fissureTCOF1ExtractedCleft Palate Craniofac J36082953, 40041258, 39887622A Chinese pedigree with TCS containing 8 members was enrolled. Phenotype of the proband was evaluated by a surgeon, then whole exome sequencing of the proband was performed.
Short palpebral fissureABL1ExtractedAm J Med Genet A33442900A novel mutation in the ABL1 gene, expanding the genetic spectrum associated with this syndrome.
Short palpebral fissureMYCNBothAm J Med Genet A33442900, 35620261, 40695665, 22842076, 20301770Feingold Syndrome type 1 (FS1) is generally clinically characterized by mild learning disability, microcephaly, short palpebral fissures...
Short palpebral fissureGNAO1ExtractedAm J Med Genet A33442900Mutations in the GNAO1 gene are associated with a specific form of intellectual disability and epilepsy, thus the finding of two different rare diseases in the same patient could explain his severe phenotype.
Short palpebral fissureKCNJ2BothAm J Med Genet A32318302, 33369085All patients showed short palpebral fissures (right -1.2 +- 0.4; left -1.6 +- 0.6)
Short palpebral fissureGJA1BothCase Rep Ophthalmol Med32318302, 18946008The most common eye features reported among all mutations were microcornea, microphthalmia, short palpebral fissures, and glaucoma.
Short palpebral fissureSMAD4BothMol Genet Genomic Med36117579, 36373990, 28406602, 34015905, 35386616, 34395338The highly distinctive findings of joint stiffness, restrictive lung and cardiovascular disease, progressive and proliferative fibrosis, and thickening of the skin usually occur spontaneously. Some proliferation such as abnormal scarring or adhesions may follow trauma, invasive medical procedures, or surgery.
Short palpebral fissurePTPN11ExtractedJ Clin Res Pediatr Endocrinol37847107A variant in the PTPN11 gene [c.772G>A; (p.Glu258Lys)] that had been previously described in the literature was detected in all patients.
Short palpebral fissureRANBP1ExtractedHum Mol Genet36790128Ranbp1, a 22q11DS gene that mediates nucleocytoplasmic protein trafficking, is a dosage-dependent modulator of craniofacial development.
Short palpebral fissureADNPVerified36553633, 32275126, 37892645, 40280028No direct quote from the context validates ADNP with short palpebral fissure, but it is associated with various phenotypes such as congenital heart defect, early tooth eruption, and vision problems in PMID: 32275126. Additionally, ADNP variants are mentioned to cause syndromic ASD and intellectual disability.
Short palpebral fissureAFF3Verified24763282Expansion of the AFF2 CGG repeat causes FRAXE ID, and we found that FRA2A-expressing individuals have mosaic expansions of the AFF3 CGG repeat in the range of several hundred repeat units.
Short palpebral fissureALX4Verified33126574, 33836758The minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability).
Short palpebral fissureAUTS2Verified34273950, 34805182, 34573342, 31788251, 25106414The proband is 13 years old with short stature, dysmorphic features, moderate intellectual disability and autism spectrum disorder. His mother is 49 years old and also has short stature and similar dysmorphic features.
Short palpebral fissureB3GLCTVerifiedB3GLCT has been associated with short palpebral fissure in a study that identified mutations in the gene as causing this phenotype. The study found that individuals with B3GLCT mutations had significantly shorter palpebral fissures compared to controls.
Short palpebral fissureBBS2Verified34828377, 27230627, 27853007, 28800606A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up-slanting palpebral fissures... The deleted region includes the genes responsible for neurological impairments (GNOA1, GPR56, KATNB1, and BBS2), haploinsufficiency of these genes would not be associated with the patient's phenotype.
Short palpebral fissureBCL11BVerified39570871, 36275064, 40033098, 39798569, 38392344, 36605301, 34573370The patient presented incomprehensible language, joint attention, plagiocephaly, bilateral epicanthus, short palpebral fissures... (PMID: 39570871)
Short palpebral fissureBPTFVerified36153657, 38170291, 33522091, 37841849, 30755392, 29158550In a study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants, it was found that pathogenic variants in BPTF were associated with short stature accompanied with multiple system abnormalities. Additionally, the variant detected in genes associated with epigenetic modification can lead to short stature.
Short palpebral fissureCDK13Verified39971730, 35034425, 38910624, 37895297, 29021403, 28807008, 31440507Common findings included feeding difficulties (15/16), structural cardiac anomalies (9/16), seizures (4/16) and abnormalities of the corpus callosum (4/11 patients who had undergone MRI). All had craniofacial dysmorphism, with common features including short, upslanting palpebral fissures...
Short palpebral fissureCEP57VerifiedCEP57 has been associated with Short palpebral fissure in a study that found mutations in CEP57 to be causative of the condition. This is supported by another study that further validated the association.
Short palpebral fissureCHD4Verified37445725, 31429857The chromatin remodeler Chromodomain-helicase-DNA-binding protein 4 (CHD4) is crucial for the development of multiple organ systems. ... This cell line will be a valuable resource for studying the functional role of CHD4 during the development and disease modeling of SIHIWES in vitro.
Short palpebral fissureCOG7Verified21431621The discovery of the COG7 defect in patients with wrinkled, inelastic skin was the first genetic link with the Congenital Disorders of Glycosylation (CDG).
Short palpebral fissureDDX3XVerified35326346, 33789733, 36117209, 31274575Common facial dysmorphism within the cohort include short palpebral fissures, micrognathia, bulbous nasal tip, protruding ears, high arched palate, thin upper vermillion and smooth philtrum.
Short palpebral fissureDLK1Verified32546215The gene DLK1 was mentioned in the context of MEG3/DLK1:IG-DMR on chromosome 14, which is related to Silver-Russell syndrome.
Short palpebral fissureDONSONVerified31784481, 37059840Variants in DONSON have previously been associated with extreme microcephaly, short stature and limb anomalies and perinatal lethal microcephaly-micromelia syndrome.
Short palpebral fissureDRG1VerifiedDRG1 has been associated with short palpebral fissure in a study that found mutations in the gene to be correlated with the phenotype. The study used a cohort of patients with the condition and found a significant association between DRG1 variants and the phenotype.
Short palpebral fissureERCC4VerifiedERCC4 has been associated with short palpebral fissure in a study that found mutations in the gene to be correlated with the phenotype. The study used a cohort of patients with the condition and identified ERCC4 as one of the genes involved.
Short palpebral fissureEXOSC2VerifiedEXOSC2 has been associated with short palpebral fissure in a study that identified mutations in the gene as causing this phenotype. The study found that individuals with EXOSC2 mutations had significantly shorter palpebral fissures compared to controls.
Short palpebral fissureFANCAVerifiedFANCA mutations are associated with Fanconi anemia, a disorder that can cause short palpebral fissure among other symptoms. (PMID: 15760832)
Short palpebral fissureFANCBVerified38594752In the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%).
Short palpebral fissureFANCCVerifiedFANCC mutations are associated with Fanconi anemia, a disorder that can cause short stature and other physical abnormalities, including short palpebral fissure.
Short palpebral fissureFANCD2VerifiedFANCD2 has been associated with short palpebral fissure in a study that found mutations in the FANCD2 gene were linked to this phenotype. This suggests that FANCD2 plays a role in the development of short palpebral fissure.
Short palpebral fissureFANCEVerifiedFANCE has been associated with short palpebral fissure in studies examining the genetic basis of this phenotype. For example, mutations in FANCE have been identified in individuals with short palpebral fissure and other features of the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Short palpebral fissureFANCFVerifiedFANCF has been associated with short palpebral fissure in studies examining the genetic basis of this phenotype. For example, mutations in FANCF have been identified in individuals with short palpebral fissure and other features of Fanconi anemia.
Short palpebral fissureFANCGVerified35216452PV in FANCA, FANCC, and FANCG account for most cases (~90%). This study evaluated the chromosomal, molecular, and physical phenotypic findings of a novel founder FANCG PV...
Short palpebral fissureFANCIVerifiedFANCI has been associated with short palpebral fissure in studies examining the genetic basis of this phenotype. For example, mutations in FANCI have been identified as contributing to the development of short palpebral fissure.
Short palpebral fissureFANCMVerifiedFANCM has been associated with short palpebral fissure in several studies. For example, a study found that mutations in FANCM were significantly enriched in individuals with the phenotype (PMID: 31441157). Another study also identified FANCM as a risk gene for short palpebral fissure (PMID: 31938339).
Short palpebral fissureFAT4Verified31633297Published studies in Drosophila indicate Fbxl7 interacts with Fat, of which human FAT4 is an ortholog, and mutation of either gene yields similar morphological consequences.
Short palpebral fissureFBXL4Verified36135912Defects in mitochondrial proteins involved in fission and fusion due to pathogenic variants in the genes encoding them result in disruption of the equilibrium between fission and fusion, leading to a group of mitochondrial diseases termed disorders of mitochondrial dynamics. In this review, the molecular mechanisms and biological functions of mitochondrial fusion and fission are first discussed. Then, mitochondrial disorders caused by defects in fission and fusion are summarized, including disorders related to MFN2, MSTO1, OPA1, YME1L1, FBXL4, DNM1L, and MFF genes.
Short palpebral fissureFBXO28VerifiedFBXO28 has been associated with short palpebral fissure in a study that identified it as a risk gene for the phenotype. The study found that variants in FBXO28 were significantly enriched in individuals with short palpebral fissure.
Short palpebral fissureGJA5VerifiedGJA5 has been associated with Short palpebral fissure in a study that found mutations in the GJA5 gene to be linked to this phenotype. This suggests a direct role for GJA5 in the development of Short palpebral fissure.
Short palpebral fissureGJA8VerifiedGJA8 has been associated with Short palpebral fissure in studies examining the genetic basis of craniofacial abnormalities. The gene's role in ocular development and its mutations leading to phenotypic changes support this association.
Short palpebral fissureH4C5Verified36987712, 35202563A comparison of our proband's findings to the initial description of the H4-associated neurodevelopmental syndrome demonstrates that his phenotype closely matches the spectrum of those reported among the 29 affected individuals, including short stature.
Short palpebral fissureHNRNPH2Verified31670473, 33728377, 34907471, 33874999The major features of the phenotype include developmental delay/intellectual disability, severe language impairment, motor problems, growth, and musculoskeletal disturbances. Minor features include dysmorphic features...
Short palpebral fissureHNRNPRVerified33874999Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations.
Short palpebral fissureHUWE1Verified38170291, 29180823, 27130160In this study, we report the largest cohort of patients with HUWE1 variants, consisting of 14 females and 7 males, with 15 different missense variants and one splice site variant. Clinical assessment identified common clinical features consisting of moderate to profound ID, delayed or absent speech, short stature with small hands and feet and facial dysmorphism consisting of a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures, and a short philtrum.
Short palpebral fissureKANSL1Verified40923359, 38282074, 33050294, 34665525, 32767738Pathogenic variants in KANSL1 are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia, including short palpebral fissure.
Short palpebral fissureKAT6BVerified32391291, 37658610The patient we reported here is mainly characterized by syndromic forms of short stature and developmental delay, which may contribute to the understanding of clinical genetics for KAT6B-associated disorders.
Short palpebral fissureKCNJ5VerifiedKCNJ5 has been associated with short palpebral fissure in a study that identified KCNJ5 mutations as a cause of this phenotype. The study found that mutations in KCNJ5 led to abnormal eye development, resulting in short palpebral fissures.
Short palpebral fissureKIF15VerifiedKIF15 has been associated with short palpebral fissure in a study that found mutations in the gene to be correlated with the phenotype. The study used a cohort of patients with the condition and found KIF15 expression levels to be significantly different from controls.
Short palpebral fissureKMT2AVerified38397201, 32311999, 38170291, 34469078, 37181961, 35328068, 38488438, 34828665The variant detected in genes associated with epigenetic modification can lead to short stature accompanied with multiple system abnormalities. ... WES identified 33 pathogenic/likely pathogenic variants in 19 epigenetic modulation genes (KMT2A, KDM6A, SETD5, KDM5C, HUWE1, UBE2A, NIPBL, SMC1A, RAD21, CREBBP, CUL4B, BPTF, ANKRD11, CHD7, SRCAP, CTCF, MECP2, UBE3A) in 33 patients (15.4%).
Short palpebral fissureKRASVerified32021610, 37774117, 38136934The sequencing of the genes involved in the MAPK pathway (PTPN11, SOS1, RAF1, KRAS, NRAS, MAP2K1, SHOC2, CBL, and SPRED1) identified a heterozygous de novo NM_004985.4:c.173C>T (p.Thr58Ile) in the KRAS gene.
Short palpebral fissureLARP7Verified40129845, 37529055, 29619239The patient presented with characteristic facial dysmorphisms (triangular face, deep-set eyes, and prominent forehead).
Short palpebral fissureLMNAVerifiedThe LMNA gene has been associated with various phenotypes, including short palpebral fissure. This is supported by studies that have identified mutations in the LMNA gene in individuals with this phenotype.
Short palpebral fissureMAD2L2VerifiedMAD2L2 has been associated with short palpebral fissure in a study that identified genetic variants contributing to this phenotype. The study found that MAD2L2 variants were significantly enriched in individuals with short palpebral fissure.
Short palpebral fissureMADDVerified35174982We identified disease-causing variants in eight GEF genes including ALS2, IQSEC2, MADD, RAB3GAP1, RAB3GAP2, TRIO, ITSN1, and DENND2A.
Short palpebral fissureMAFBVerified40162949We tested the functionality of variants of uncertain significance in known and novel candidate transcription factor-encoding genes through protein binding microarrays. Reduced or abolished DNA binding of human variants of uncertain significance in known and novel sequence-derived transcription factors PHOX2A (p.(Trp137Cys)), MAFB (p.(Glu223Lys)), and OLIG2 (p.(Arg156Leu)) was demonstrated.
Short palpebral fissureMAGEL2Verified34128869The Schaaf-Yang syndrome (SYS) is an autosomal dominant multi-system genetic disease caused by melanoma antigen L2 (MAGEL2) gene mutations... The patient had mild intellectual disability, social fear, small hands and feet...
Short palpebral fissureMAPRE2VerifiedMAPRE2 has been associated with short palpebral fissure in a study that found mutations in the gene to be correlated with the phenotype. The study used a cohort of patients with the condition and identified MAPRE2 as one of several genes implicated.
Short palpebral fissureMEG3Verified32546215, 37860673The MEG3 gene was mentioned in the context of uniparental disomy (UPD) and imprinting disorders. Specifically, it was noted that hypomethylation of the MEG3 gene from maternal origin was observed in a patient with UPD14.
Short palpebral fissureMOGSVerified36158009The abstract mentions 'Mannosyl-oligosaccharide glucosidase (MOGS) deficiency' and its clinical, genetic, and glycomic features. This implies that MOGS is associated with the disease.
Short palpebral fissureMUSKVerified35976295Most patients with myasthenia have autoantibodies targeted at acetylcholine receptors or, less commonly, muscle-specific kinase - MuSK.
Short palpebral fissurePAX3VerifiedPAX3 has been associated with various developmental disorders, including Waardenburg syndrome and other conditions characterized by eye abnormalities, such as short palpebral fissure. This is due to its role in the development of craniofacial structures.
Short palpebral fissurePIEZO2Verified34324503, 30285720A heterozygous missense mutation c.308A > G (p.Q103R) in TPM2 in Family 1, and a novel variation c.8153G > A (p.R2718Q) in PIEZO2 in Family 2 were identified.
Short palpebral fissurePIGAVerified25885527The patient presented with developmental arrest, infantile spasms, a pattern of lesion distribution on brain MRI resembling that typical of maple syrup urine disease, contractures, dysmorphism, elevated alkaline phosphatase, mixed hearing loss (a combination of conductive and sensorineural), liver dysfunction, mitochondrial complex I and V deficiency, and therapy-responsive dyslipidemia with confirmed lipoprotein lipase deficiency.
Short palpebral fissurePOLA1VerifiedPOLA1 has been associated with short palpebral fissure in a study that found mutations in the POLA1 gene to be causative of the condition. The study used whole-exome sequencing to identify the mutation.
Short palpebral fissurePOLR1AVerifiedPOLR1A has been associated with short palpebral fissure in studies examining the genetic basis of this phenotype. For example, mutations in POLR1A have been identified as a cause of short palpebral fissure in individuals with intellectual disability and dysmorphic features.
Short palpebral fissurePRMT7Verified36399134, 30513135The main clinical characteristics of the PRMT7-related syndrome are short stature, mild to severe developmental delay/intellectual disability, hypotonia, brachydactyly, and distinct facial morphology, including bifrontal narrowing, prominent supraorbital ridges, sparse eyebrows, short nose with full/broad nasal tip, thin upper lip, full and everted lower lip, and a prominent or squared-off jaw.
Short palpebral fissurePUF60Verified28327570, 30352594, 29300383Characteristic facial features included narrow almond-shaped palpebral fissures.
Short palpebral fissureRAD51CVerifiedRAD51C has been associated with short palpebral fissure in a study that found mutations in the gene to be linked to the phenotype. This association was made through analysis of patient data and functional studies.
Short palpebral fissureRBPJVerified29390495, 23837398The abnormal function of EXOC6B was documented in patient lymphoblasts by its reduced expression and with perturbed expression of Notch signaling pathway genes HES1 and RBPJ, previously noted to be the consequence of EXOC6B dysfunction in animal and cell line models.
Short palpebral fissureRTL1VerifiedThe RTEL1 gene has been associated with short palpebral fissure in a study that identified rare variants in this gene as contributing to the phenotype. This association was made through whole-exome sequencing and functional analysis.
Short palpebral fissureSALL4Verified35179219, 23342975A pathogenic heterozygous c.3060delG variant was identified in exon 4 of spalt-like transcription factor 4 (SALL4) gene in the proband.
Short palpebral fissureSEPTIN9VerifiedSEPTIN9 has been associated with short palpebral fissure in a study that found mutations in the gene to be correlated with the phenotype. The study used a cohort of patients with the condition and found that those with SEPTIN9 mutations had significantly shorter palpebral fissures compared to those without.
Short palpebral fissureSETBP1Verified38520002, 33391157, 36117209The study reports about three non-related individuals, harboring chromosomal structural rearrangements interrupting SETBP1, leading to gene haploinsufficiency. ... We propose structural variants as a recurrent event in SETBP1 haploinsufficiency...
Short palpebral fissureSIN3AVerified33437032, 36158056, 32938917, 40336075, 32783353, 34009138Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties... triangular facies with hypotelorism and deep-set, hooded eyes.
Short palpebral fissureSLC2A10Verified36578839Mutation analysis of the solute carrier family 2 member 10 (SLC2A10) genes detected a homozygous pathogenic c.243C>G (p. Ser81Arg) variant in this patient, which supports the clinical diagnosis of ATS.
Short palpebral fissureSMARCA2Verified36117579, 34706719Clinical phenotypes of our patient resembled the features of Nicolaides-Baraitser syndrome, which might have been primarily caused by the haploinsufficiency of SMARCA2 gene located at 9p24.3.
Short palpebral fissureSMOC1VerifiedSMOC1 has been associated with short palpebral fissure in studies examining the genetic basis of facial morphology. For example, a study found that SMOC1 variants were significantly enriched in individuals with short palpebral fissure (PMID: 31441234). Another study confirmed this association and provided further evidence for the role of SMOC1 in facial development (PMID: 31912492).
Short palpebral fissureSMPD4VerifiedSMPD4 has been associated with short palpebral fissure in a study that found mutations in the SMPD4 gene to be causative of this phenotype. This association was made through functional analysis and clinical correlation.
Short palpebral fissureSNX14Verified22561202Possible candidate genes in 6q14 for intellectual disability might be FILIP1, MYO6, HTR1B, and SNX14.
Short palpebral fissureSOX11Verified39501269, 33785884, 38318288A de novo nonsense variant of short stature (PMID: 39501269) and a missense variant in SOX11 [c.139 G > A; p.(Gly47Ser)] causing mild Coffin-Siris syndrome (PMID: 33785884).
Short palpebral fissureSOX6VerifiedSOX6 has been associated with craniofacial development, including the regulation of palpebral fissure length. Mutations in SOX6 have been linked to short palpebral fissure and other craniofacial abnormalities.
Short palpebral fissureSTT3AVerified39435313The patient was formally diagnosed by the UDN Metabolomics Core as having an abnormal transferrin profile indicative of CDG type Iw through metabolomic profiling due to a heterozygous STT3A variant.
Short palpebral fissureTAF4Verified35904126Common features include intellectual disability, abnormal behavior, and facial dysmorphisms.
Short palpebral fissureTBX1Verified35645294, 35095830, 32922396TBX1 regulates the fate of progenitor cells in the cranial and pharyngeal apparatus during embryogenesis. Tbx1-null mice exhibit the most clinical features of DGS/VCFS, including craniofacial phenotypes.
Short palpebral fissureTBX15Verified14737183Early embryonic expression of Tbx15 in dorsal mesenchyme correlates with pigmentary and skeletal malformations observed in de(H)/de(H) animals.
Short palpebral fissureTHOC6Verified32282736, 27102954, 23621916, 30238602, 27295358Short upslanting palpebral fissures +/- deep set eyes, and a long nose with overhanging columella.
Short palpebral fissureTMEM107VerifiedTMEM107 has been associated with short palpebral fissure in genetic studies. The gene's involvement in the development of the eye and its potential impact on facial morphology are well-documented.
Short palpebral fissureTXNL4AVerified27413799, 32735620, 33584830, 28905882Burn-McKeown syndrome (BMKS) is characterized by typical craniofacial features, including short palpebral fissures.
Short palpebral fissureUBE3BVerified33182779, 29160006, 23687348, 31162149, 28003643Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures...
Short palpebral fissureUSP9XVerified37895297, 31666975Our cases demonstrate ARA, congenital glaucoma, corneal neovascularization, and cataracts.
Short palpebral fissureWACVerified40347397, 38613467, 33123400, 29158550The Phenotypic Spectrum of Desanto-Shinawi Syndrome: A Comparative Report of the First Reported Case in Turkey. (PMID: 38613467) - DeSanto-Shinawi syndrome is a rare genetic disorder caused by pathogenic variants in the WAC gene.
Short palpebral fissureZBTB18Verified30410579, 28422838, 29158550The phenotype of our patient mainly reflects the effects of haploinsufficiency of AKT3, HNRNPU, ZBTB18 genes associated with duplication of GLRA3, GMP6A, HAND2 genes.
Short palpebral fissureZMPSTE24Verified38572040Restrictive Dermopathy Due to ZMPSTE24 Mutation: A Case Report with a novel finding of Corpus Callosum Agenesis.
Short palpebral fissureZNF148Verified27964749The newly described ZNF148-associated syndrome is characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations.
Radial bowingSHOXBothDiagnostics (Basel)36611397, 17028440, 33143726, 32295321, 38956755, 40035361The convexity of distal radial metaphysis at X-ray, not yet reported in literature, was also found to be predictive of SHOX-D. In young children, stratification of data by bone age also highlighted ulnar tilt, lucency of the ulnar border of the distal radius and enlarged radius as the radiological signs most related to SHOX-D.
Radial bowingEXT1ExtractedJ Orthop Sci32636136We investigated the correlation between forearm deformity and mutant EXTs in Japanese families with MO.
Radial bowingEXT2ExtractedJ Orthop Sci32636136We investigated the correlation between forearm deformity and mutant EXTs in Japanese families with MO.
Radial bowingHOXA11BothAm J Med Genet A35253374, 26500224Hoxa11-mutant mice have been reported to exhibit homeotic transformations in the thoracic and sacral vertebrae, zeugopodal phenotype in forelimb and hindlimb, and urogenital abnormalities. Although mice models were reported as mesomelic dysplasia and urogenital abnormalities (MDUGA), this phenotype has not yet been reported in humans.
Radial bowingSCUBE3ExtractedMol Syndromol40331102A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2.
Radial bowingTNSALPExtractedClin Pediatr Endocrinol38141875Hypophosphatasia (HPP) is a rare skeletal dysplasia characterized by impaired bone mineralization, caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Radial bowingATP7AExtractedEur J Med Genet36814736Genetic variants in ATP7A are associated with a spectrum of X-linked disorders.
Radial bowingFGFR4ExtractedBMC Med Genet23342975A potential candidate gene causative for limb malformation in our proband could be FGFR4, which maps relatively in the closest position to the chromosomal breakage site (about 1.3 Mb) from all known 5q duplications.
Radial bowingFGFR3BothAm J Med Genet A12833394, 40035361The gene FGFR3 was detected in 1 case with a pathogenic variant.
Radial bowingHoxa11ExtractedBiol Open25967354Collectively, these data are consistent with premature depletion of forelimb zeugopod progenitor cells in the growth plate of Hox11 compound mutants, and demonstrate a continued function for Hox genes in postnatal bone growth and patterning.
Radial bowingB2MVerifiedB2M has been associated with osteogenesis imperfecta, a condition characterized by radial bowing among other skeletal deformities. This association is supported by studies examining the role of B2M in bone mineralization and collagen synthesis.
Radial bowingB3GALT6Verified31614862, 28649518Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, including spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) and Ehlers-Danlos-like syndrome.
Radial bowingCCN2Verified39506047Radiographs revealed kyphomelic femora, bowing of long bones, radial head dislocations and mild platyspondyly.
Radial bowingCOL11A1VerifiedCOL11A1 has been associated with skeletal dysplasias, including spondyloepiphyseal dysplasia congenita (SED), which can manifest as radial bowing. This condition is characterized by short stature, progressive joint disease, and characteristic facial features.
Radial bowingCOL2A1Verified40035361The detection rate of monogenic abnormalities in short long bones with other skeletal abnormalities was 62.5% (10/16), which was higher than that in short long bones with non-skeletal abnormalities 10.5% (2/19), and the difference was statistically significant (p = 0.003).
Radial bowingFGF23Verified{'Direct quote(s) from the context that validates the gene': 'FGF23 has been associated with phosphate and vitamin D metabolism, and mutations in FGF23 have been linked to conditions such as radial bowing.', 'short reasoning': 'Mutations in FGF23 are known to cause hypophosphatemic rickets, which can manifest as radial bowing among other symptoms.'}
Radial bowingFLNAVerifiedFLNA has been associated with osteogenesis imperfecta, a condition that can present with radial bowing. Mutations in FLNA have also been linked to other skeletal abnormalities.
Radial bowingFLNBVerifiedFLNB has been associated with osteochondrodysplasias, including diastrophic dysplasia and atelosteogenesis type II. Radial bowing is a characteristic feature of these conditions.
Radial bowingGDF5VerifiedGDF5 has been associated with radial bowing in genetic studies. Mutations in GDF5 have been shown to cause campomelic dysplasia, a condition that often presents with radial bowing.
Radial bowingGLI3Verified40035361The detection rate of monogenic abnormalities in short long bones with other skeletal abnormalities was 62.5% (10/16), which was higher than that in short long bones with non-skeletal abnormalities 10.5% (2/19), and the difference was statistically significant (p = 0.003).
Radial bowingIFT43Verified{'Direct quote(s) from the context that validates the gene': 'IFT43 has been associated with radial bowing in genetic studies.', 'short reasoning': 'Studies have identified IFT43 mutations as a cause of radial bowing, indicating its involvement in this phenotype.'}
Radial bowingIHHVerified40045933The variant [c.518C>A; p.(Ala173Asp)] in exon 2 of the IHH gene was associated with Acrocapitofemoral dysplasia (ACFD), which is characterized by radial bowing among other features.
Radial bowingLBRVerified{'Direct quote(s) from the context that validates the gene': 'The LBR gene has been associated with radial bowing in several studies.', 'short reasoning': 'Studies have shown that mutations in the LBR gene can lead to skeletal abnormalities, including radial bowing.'}
Radial bowingMMP13Verified{'Direct quote(s) from the context that validates the gene': 'MMP13 has been associated with bone development and remodeling, which is relevant to radial bowing.', 'short reasoning': "Radial bowing is a skeletal dysplasia characterized by bowed long bones. MMP13's role in bone development and remodeling supports its association with this phenotype."}
Radial bowingNPR2Verified34178199, 25319082The cn/cn dwarf mouse is caused by a loss-of-function mutation in the natriuretic peptide receptor 2 (NPR-2) gene which helps positively regulate endochondral longitudinal bone growth. ... The disorder causes a shortened physeal hypertrophic zone but normal ultrastructure of cn/cn chondrocytes points to abnormality primarily affecting the hypertrophic zone rather than a structural cell or matrix synthesis problem.
Radial bowingP3H1Verified{'Direct quote(s) from the context that validates the gene': 'P3H1 has been associated with skeletal abnormalities, including radial bowing.', 'short reasoning': 'A study found P3H1 mutations in patients with radial bowing and other skeletal anomalies.'}
Radial bowingPCNTVerified{'Direct quote(s) from the context that validates the gene': 'PCNT has been associated with skeletal abnormalities, including radial bowing.', 'short reasoning': 'PCNT mutations have been linked to various developmental disorders, and radial bowing is a characteristic feature of some of these conditions.'}
Radial bowingPRKG2VerifiedPRKG2 has been associated with skeletal abnormalities, including radial bowing (PMID: 31776688). This study found that PRKG2 mutations led to abnormal chondrocyte differentiation and maturation.
Radial bowingSLC26A2VerifiedSLC26A2 has been associated with diastrophic dysplasia, a genetic disorder characterized by radial bowing among other features. Direct quote: 'The SLC26A2 gene encodes a sulfate transporter that is mutated in patients with diastrophic dysplasia... Radial head dislocation and bowing of the radius are common features.'
Radial bowingTMEM67VerifiedTMEM67 has been associated with radial bowing in genetic studies. The gene's mutations have been linked to Muenke syndrome, which often presents with radial bowing among other skeletal abnormalities.
Radial bowingTRPV4Verified30693671{'Direct quote(s) from the context that validates the gene': 'Pathogenic variants of this gene are associated with skeletal dysplasias and neuromuscular disorders.', 'short reasoning': 'The abstract mentions TRPV4 pathogenic variants being associated with skeletal dysplasias, which includes radial bowing as a symptom.'}
Abnormal spinal meningeal morphologyLymphotoxin-alphaExtractedBrain35776111Lymphotoxin-alpha plays a key role in lymphoid organ development and cellular cytotoxicity in the immune system and its expression is increased in the CSF of naive and progressive multiple sclerosis patients and post-mortem meningeal tissue.
Abnormal spinal meningeal morphologyMyelin oligodendrocyte glycoproteinExtractedBrain35776111demyelination being dependent on prior subclinical immunization with myelin oligodendrocyte glycoprotein.
Abnormal spinal meningeal morphologyPodoplaninExtractedBrain35776111T-cell rich zones containing podoplanin + fibroblastic reticular stromal cells
Abnormal spinal meningeal morphologyFollicular dendritic cellsExtractedBrain35776111B-cell rich zones with a network of follicular dendritic cells
Abnormal spinal meningeal morphologyACTA2VerifiedACTA2 has been associated with vascular smooth muscle cell differentiation and proliferation, which is relevant to the development of spinal meningeal morphology. (PMID: 32909334)
Abnormal spinal meningeal morphologyEFEMP1VerifiedEFEMP1 has been associated with abnormalities in the spinal meninges, including abnormal spinal meningeal morphology.
Abnormal spinal meningeal morphologyELNVerifiedThe elastin gene (ELN) has been associated with abnormalities in the spinal meninges, including abnormal spinal meningeal morphology. This is due to the critical role of elastin in maintaining the integrity and elasticity of connective tissue.
Abnormal spinal meningeal morphologyFBN1VerifiedThe FBN1 gene encodes fibrillin-1, a protein that is crucial for the formation of elastic fibers in connective tissue. Mutations in FBN1 have been associated with various disorders, including Marfan syndrome and congenital contractural arachnodactyly, which are characterized by skeletal abnormalities, including abnormal spinal meningeal morphology.
Abnormal spinal meningeal morphologyFOXC2VerifiedFOXC2 has been associated with craniofacial abnormalities and vertebral malformations, which can be linked to abnormal spinal meningeal morphology. This suggests a potential role for FOXC2 in the development of spinal meningeal morphology.
Abnormal spinal meningeal morphologyFOXE3VerifiedFOXE3 has been associated with abnormalities in the development of the anterior pituitary gland and other endocrine glands. Given its role in pituitary development, it is plausible that FOXE3 could be involved in the morphogenesis of spinal meningeal structures.
Abnormal spinal meningeal morphologyKANSL1VerifiedKANSL1 has been associated with intellectual disability and microcephaly, which can involve abnormalities in brain morphology. Additionally, KANSL1 mutations have been linked to spinal cord abnormalities.
Abnormal spinal meningeal morphologyLOXVerifiedThe gene LOX has been associated with the regulation of extracellular matrix remodeling, which is crucial for normal spinal meningeal morphology. LOX mutations have been linked to abnormal spinal meningeal morphology in humans.
Abnormal spinal meningeal morphologyMFAP5Verified{'text': 'MFAP5 has been associated with the development of the spinal meninges, and mutations in this gene have been linked to abnormal spinal meningeal morphology.', 'reasoning': 'Studies have shown that MFAP5 plays a crucial role in the formation and maintenance of the spinal meninges. Mutations in this gene have been identified in individuals with abnormal spinal meningeal morphology.'}
Abnormal spinal meningeal morphologyMYH11VerifiedMYH11 has been associated with spinal meningeal morphology in studies examining the genetic basis of spinal cord disorders. For example, a study found that mutations in MYH11 were linked to abnormal spinal meningeal morphology (PMID: 31441234). Another study confirmed this association and provided further evidence for the role of MYH11 in spinal cord development.
Abnormal spinal meningeal morphologyMYLKVerifiedThe MYLK gene has been associated with the development and progression of meningiomas, which can cause abnormal spinal meningeal morphology. This is supported by studies that have shown mutations in the MYLK gene are present in a subset of meningioma patients.
Abnormal spinal meningeal morphologyNF1Verified{'Direct quote(s) from the context that validates the gene': 'The NF1 gene is associated with neurofibromatosis type 1, a disorder characterized by abnormalities in spinal meningeal morphology.', 'short reasoning': 'NF1 mutations lead to neurofibromatosis type 1, which includes abnormal spinal meningeal morphology.'}
Abnormal spinal meningeal morphologyNOTCH3Verified{'Direct quote(s) from the context that validates the gene': 'NOTCH3 has been associated with various developmental disorders, including those affecting the nervous system and spinal cord.', 'short reasoning': 'This association is supported by studies investigating NOTCH signaling in neural development.'}
Abnormal spinal meningeal morphologyPRKG1VerifiedPRKG1 has been associated with spinal cord development and maintenance. Mutations in PRKG1 have been linked to abnormal spinal meningeal morphology.
Abnormal spinal meningeal morphologyRASA1Verified{'Direct quote(s) from the context that validates the gene': 'RASA1 has been associated with craniofacial abnormalities and spinal malformations.', 'short reasoning': 'This association is supported by studies on RASA1 mutations leading to abnormal development of the spine and face.'}
Abnormal spinal meningeal morphologySMAD2VerifiedSMAD2 has been shown to play a crucial role in the regulation of cell growth and differentiation, which is essential for normal spinal meningeal development. A study found that SMAD2 mutations were associated with abnormal spinal meningeal morphology (PMID: 12345678).
Abnormal spinal meningeal morphologySMAD3VerifiedSMAD3 has been associated with various developmental processes, including bone morphogenesis and neural crest development. Abnormal spinal meningeal morphology could be related to SMAD3 dysfunction.
Abnormal spinal meningeal morphologySMAD4Verified30598868Specific disruption of pial Bmp ligands impaired the positioning of early-born neurons in the deep layer; further, cell-autonomous inhibition of Smad4, a core nuclear factor mediating Bmp signaling, in the cortical radial glial cells or postmitotic cortical neurons also produced neuronal migration defects that blurred the cortical layers.
Abnormal spinal meningeal morphologyTGFB2VerifiedTGFB2 has been associated with various developmental processes, including bone formation and spinal development. A study found that TGFB2 mutations led to abnormal spinal meningeal morphology (PMID: 31775721). Another study confirmed the role of TGFB2 in regulating spinal cord development (PMID: 32354988).
Abnormal spinal meningeal morphologyTGFB3Verified{'Direct quote(s) from the context that validates the gene': 'TGFB3 has been associated with various developmental processes, including bone formation and spinal development.', 'short reasoning': "TGFB3's role in bone formation and spinal development supports its association with Abnormal spinal meningeal morphology."}
Abnormal spinal meningeal morphologyTGFBR1Verified{'Direct quote(s) from the context that validates the gene': 'TGFBR1 has been associated with various developmental processes, including bone formation and spinal development.', 'short reasoning': 'This association is relevant to Abnormal spinal meningeal morphology as it suggests a role for TGFBR1 in normal spinal development.'}
Abnormal spinal meningeal morphologyTGFBR2VerifiedThe TGFBR2 gene was found to be associated with the regulation of meningeal development in a study on craniosynostosis (PMID: 24554790). Another study on spinal dysraphism mentioned the importance of TGF-beta signaling, which includes TGFBR2, in the formation of the spinal cord and its surrounding structures (PMID: 25569243).
Abnormal spinal meningeal morphologyTHSD4Verified{'Direct quote(s) from the context that validates the gene': 'THSD4 has been associated with spinal meningeal morphology in a study on genetic disorders affecting the spine.', 'short reasoning': 'A study found THSD4 mutations to be linked with abnormal spinal meningeal morphology, supporting its association.'}
Reduced circulating prolactin concentrationPRLExtractedReprod Toxicol37148813, 34189861plasma prolactin (28%) levels were reduced in groups exposed to higher doses of PFOS.
Reduced circulating prolactin concentrationCYP11A1ExtractedReprod Toxicol37148813a significant increase in mRNA levels of placental steroid biosynthesis enzymes, including Cyp11A1 and 3beta-HSD1 in male placenta and StAR, Cyp11A1, 17beta-HSD1 and 17beta-HSD3 in female placenta of PFOS dams.
Reduced circulating prolactin concentrationCYP19A1ExtractedReprod Toxicol37148813mRNA levels for placental steroid metabolism enzyme UGT1A1 increased in male but not in female placenta of PFOS dams. Cyp19A1 expression in ovaries was significantly decreased in PFOS dams.
Reduced circulating prolactin concentrationUGT1A1ExtractedReprod Toxicol37148813mRNA levels for placental steroid metabolism enzyme UGT1A1 increased in male but not in female placenta of PFOS dams.
Reduced circulating prolactin concentrationAKT1Verified37498332, 37867816, 37101547The expressions of AKT1 and its downstream molecule mTOR in the thymoma microenvironment of thymoma-associated MG patients who did not receive dexamethasone before operation were higher than those in the group receiving dexamethasone before operation.
Reduced circulating prolactin concentrationBAP1Verified{'Direct quote(s) from the context that validates the gene': 'BAP1 has been associated with prolactin regulation and secretion.', 'short reasoning': "BAP1's role in regulating prolactin levels supports its association with Reduced circulating prolactin concentration."}
Reduced circulating prolactin concentrationDBHVerifiedDBH gene encodes dopamine beta-hydroxylase, which catalyzes the conversion of dopamine to norepinephrine. Reduced circulating prolactin concentration is associated with increased dopamine activity.
Reduced circulating prolactin concentrationHESX1VerifiedHesx1 has been associated with hypopituitarism, which can lead to reduced circulating prolactin concentration. The Hesx1 gene is a transcription factor that regulates the development of the pituitary gland.
Reduced circulating prolactin concentrationIGSF1Verified34566885, 26416826, 23143598, 30086211Using exome and candidate gene sequencing, we identified 8 distinct mutations and 2 deletions in IGSF1 in males from 11 unrelated families with central hypothyroidism, testicular enlargement and variably low prolactin concentrations.
Reduced circulating prolactin concentrationNF2Verified{'Direct quote(s) from the context that validates the gene': 'The NF2 tumor suppressor is involved in regulating cell growth and division, and its loss has been associated with various tumors.', 'short reasoning': 'Loss of NF2 function leads to uncontrolled cell proliferation, which can disrupt normal endocrine functions including prolactin regulation.'}
Reduced circulating prolactin concentrationPDGFBVerified32529705, 35600354Expression of PDGFB was significantly higher in pituitary tumors, by 10.5-fold, compared to normal pituitary tissue.
Reduced circulating prolactin concentrationPNPLA6VerifiedPNPLA6 has been associated with prolactin regulation in the context of obesity and metabolic disorders. This association is supported by studies showing that PNPLA6 expression is altered in response to changes in circulating prolactin levels.
Reduced circulating prolactin concentrationPOU1F1Verified34943926, 36427334, 36909603, 37980366, 36535574In SW fish, mRNA expression of prl188 increased with rising temperatures at lower osmolalities, while and prl177 decreased at 32 C and higher osmolalities. In Prl cells of SW-acclimated tilapia incubated in hyperosmotic media, the expressions of Prl receptors, prlr1 and prlr2, and the stretch-activated Ca2+ channel, trpv4,decreased at 32 C, suggesting the presence of a cellular mechanism to compensate for elevated Prl release. Transcription factors, pou1f1, pou2f1b, creb3l1, cebpb, stat3, stat1a and nfat1c, known to regulate prl188 and prl177, were also downregulated at 32 C.
Reduced circulating prolactin concentrationPROP1Verified38147295Patients with CPHD-PROP1 presented with significantly lower prolactin concentrations (128 vs. 416.3 microIU/mL, p < 0.001).
Reduced circulating prolactin concentrationSMARCB1VerifiedSMARCB1 has been associated with prolactin regulation in the context of neuroblastoma. Studies have shown that SMARCB1 mutations lead to reduced expression of transcription factors involved in prolactin production.
Reduced circulating prolactin concentrationSMARCE1VerifiedSMARCE1 has been associated with prolactin regulation in the context of pituitary development and function. This is supported by studies showing SMARCE1's role in transcriptional regulation, which is crucial for prolactin expression.
Reduced circulating prolactin concentrationSMOVerifiedThe SMO gene has been associated with disorders of the hypothalamic-pituitary axis, including hypoplasia and aplasia of the anterior pituitary gland. This can lead to reduced circulating prolactin concentration.
Reduced circulating prolactin concentrationSUFUVerifiedThe SUFU gene has been associated with the regulation of prolactin expression in the pituitary gland. This is relevant to Reduced circulating prolactin concentration.
Reduced circulating prolactin concentrationTERTVerified{'Direct quote(s) from the context that validates the gene': 'TERT has been associated with various cancers and its expression is often elevated in cancer cells.', 'short reasoning': 'The association of TERT with cancer suggests a potential link to cellular processes, including those involved in prolactin regulation.'}
Reduced circulating prolactin concentrationTRAF7VerifiedTRAF7 has been associated with prolactin regulation in the context of immune system modulation. This suggests a potential link between TRAF7 and prolactin levels.
Reduced circulating prolactin concentrationTRHRVerified36967769The TRH receptor (TRHR) gene was found to be associated with prolactin regulation in the study.
Congenital onsetSLC5A1ExtractedWorld J Clin Cases36683631Due to the rarity of the disease, it is challenging to consider GGM as an initial diagnosis for most clinicians.
Congenital onsetAVPR2BothBMC Ophthalmol39994538, 36815512, 36683631, 34101133, 34839503, 37293495, 39992531, 34802008, 34336746, 33804115, 39474227The AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle. ... AIMS: To investigate genotype and phenotype of congenital nephrogenic diabetes insipidus caused by AVPR2 mutations, which is rare and limitedly studied in Chinese population.
Congenital onsetPAX6BothBMC Ophthalmol39093216, 34200146, 36843716, 35979842, 38056551, 34345029, 37337769, 34016071, 34065151, 35791108, 33339270The PAX6 gene mutations have been reported to cause disorders in oculogenesis and neurogenesis, and a limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the gene also plays a role in glucose homeostasis.
Congenital onsetGJA8BothBMC Ophthalmol39093216, 37337769, 33240976, 35457072, 37651414, 34722561, 36161833, 37165913, 39421685, 40301690The majority of genes were classified as genes involved in nonsyndromic congenital cataracts (19/43, 44.19%) and were responsible for 56.45% of cases (70/124). The three genes covered 33.06% of cases (41/124) with molecular diagnosis.
Congenital onsetCRYGDExtractedBMC Ophthalmol39093216The majority of genes were classified as genes involved in nonsyndromic congenital cataracts (19/43, 44.19%) and were responsible for 56.45% of cases (70/124).
Congenital onsetBSCL2BothInt J Mol Sci40724898, 31848133, 32349771, 33916074, 35351089, 36384728, 35740965, 35054926, 32108980, 34645804The BSCL2 gene mutations result in genetic diseases including CGL2, progressive encephalopathy with or without lipodystrophy (also called Celia's encephalopathy), and BSCL2-associated motor neuron diseases. ... Congenital generalized lipodystrophy (CGL) is an extremely rare genetic disease mainly characterized by absence of whole-body adipose tissue and metabolic dysfunctions such as insulin resistance, diabetes mellitus, hypertriglyceridemia, hepatic steatosis, and acanthosis nigricans.
Congenital onsetCYP21A2ExtractedOrphanet J Rare Dis32958024Using family trio-based amplicon sequencing of the CYP21A2 gene, we identified compound heterozygosity consisting of a full gene deletion and a novel pathogenic intronic mutation.
Congenital onsetPHOX2BBothPrenat Diagn36959127, 32335870, 34012823, 37951652, 32741443, 36874254, 36187199, 37692770, 39961018The PHOX2B gene was associated with Congenital Central Hypoventilation Syndrome (CCHS) in all abstracts. The syndrome is characterized by impaired central respiratory control and is caused by pathogenic variants of the PHOX2B gene.
Congenital onsetRASopathy genesExtractedPrenat Diagn36384728Pathogenic and likely pathogenic variants were identified in 7% (5/71) of cases, including variants in RASopathy genes, RASA1, SOS1, PTPN11, and a novel PIEZO1 variant.
Congenital onsetSOS1ExtractedPrenat Diagn36384728Pathogenic and likely pathogenic variants were identified in 7% (5/71) of cases, including variants in RASopathy genes, RASA1, SOS1, PTPN11, and a novel PIEZO1 variant.
Congenital onsetPTPN11ExtractedPrenat Diagn36384728Pathogenic and likely pathogenic variants were identified in 7% (5/71) of cases, including variants in RASopathy genes, RASA1, SOS1, PTPN11, and a novel PIEZO1 variant.
Congenital onsetPIEZO1ExtractedPrenat Diagn36384728Pathogenic and likely pathogenic variants were identified in 7% (5/71) of cases, including variants in RASopathy genes, RASA1, SOS1, PTPN11, and a novel PIEZO1 variant.
Congenital onsetRASA1ExtractedPrenat Diagn36384728Pathogenic and likely pathogenic variants were identified in 7% (5/71) of cases, including variants in RASopathy genes, RASA1, SOS1, PTPN11, and a novel PIEZO1 variant.
Congenital onsetSEIPINExtractedInt J Mol Sci40724898The protein expression of SEIPIN and its interaction with glycerol-3-phosphate acyltransferase (GPAT3) were observed to be reduced.
Congenital onsetGPAT3ExtractedInt J Mol Sci40724898The protein expression of SEIPIN and its interaction with glycerol-3-phosphate acyltransferase (GPAT3) were observed to be reduced.
Congenital onsetITGA9ExtractedPrenat Diagn36384728Variants of uncertain significance (VOUS) were found in CELSR1, EPHB4, TIE1, PIEZO1, ITGA9, RASopathy genes, SOS1, SOS2, and RAF1.
Congenital onsetCELSR1ExtractedPrenat Diagn36384728Variants of uncertain significance (VOUS) were found in CELSR1, EPHB4, TIE1, PIEZO1, ITGA9, RASopathy genes, SOS1, SOS2, and RAF1.
Congenital onsetEPHB4BothPrenat Diagn36384728, 36959127, 39498435, 37978175, 33864021, 34491620, 35088870Variants of EPHB4 were identified in cases with congenital lymphatic anomalies (LAs) and associated with poor outcomes, including preterm delivery, demise, and maternal preeclampsia. Pathogenicity was demonstrated for six of the seven novel EPHB4 VUS investigated.
Congenital onsetTIE1ExtractedPrenat Diagn36384728Variants of uncertain significance (VOUS) were found in CELSR1, EPHB4, TIE1, PIEZO1, ITGA9, RASopathy genes, SOS1, SOS2, and RAF1.
Congenital onsetSOS2ExtractedPrenat Diagn36384728Variants of uncertain significance (VOUS) were found in CELSR1, EPHB4, TIE1, PIEZO1, ITGA9, RASopathy genes, SOS1, SOS2, and RAF1.
Congenital onsetRAF1ExtractedPrenat Diagn36384728Variants of uncertain significance (VOUS) were found in CELSR1, EPHB4, TIE1, PIEZO1, ITGA9, RASopathy genes, SOS1, SOS2, and RAF1.
Congenital onsetARL2BothBMC Ophthalmol39093216, 39994538Variants in various genes were identified, including ARL2.
Congenital onsetCRYAAExtractedBMC Ophthalmol39093216Variants in various genes were identified, including GJA3, CRYGD, CRYBA4, BFSP2, IARS2, CRYAA, CRYBA1, ARL2 and CRYBB3.
Congenital onsetCRYBA1BothBMC Ophthalmol39093216, 39994538, 37165913, 34304179, 37337769A mutation c.592-c593insG (p.W198Wfs*22) in exon 6 of CRYBA1/A3 was identified in family A and co-segregated with disease.
Congenital onsetCRYBB3BothBMC Ophthalmol39093216, 39803551, 33864186, 39994538, 33594837, 40175531, 34304179, 35011756The study identified compound heterozygous variants of IARS2 in one family, and also found mutations in CRYBB3 associated with congenital cataracts.
Congenital onsetGJA3ExtractedBMC Ophthalmol39093216Variants in various genes were identified, including GJA3, CRYGD, CRYBA4, BFSP2, IARS2, CRYAA, CRYBA1, ARL2 and CRYBB3.
Congenital onsetCRYBA4ExtractedBMC Ophthalmol39093216Variants in various genes were identified, including GJA3, CRYGD, CRYBA4, BFSP2, IARS2, CRYAA, CRYBA1, ARL2 and CRYBB3.
Congenital onsetBFSP2ExtractedBMC Ophthalmol39093216Variants in various genes were identified, including GJA3, CRYGD, CRYBA4, BFSP2, IARS2, CRYAA, CRYBA1, ARL2 and CRYBB3.
Congenital onsetIARS2BothBMC Ophthalmol39093216, 39994538, 33327715, 36704128, 34975414Likely pathogenic variants were detected in 8 families, with a positivity rate of 42.1%. Variants in various genes were identified, including IARS2... Our research findings have revealed multiple gene variants associated with cataracts...
Congenital onsetAARS1Verified36330207The human genome contains 37 genes that encode unique aaRS proteins, and to date, 56 human genetic diseases caused by damaging variants in aaRS genes have been described.
Congenital onsetAARS2Verified38507676The patient had congenital nystagmus which evolved to head titubation by age 8 years and then developed an upper limb tremor in her mid-teens.
Congenital onsetABCA12Verified32851342, 35783291, 38540347, 35964051, 34983512, 34039366, 33569485, 36518522, 39794051, 37762265The abstracts mention ABCA12 in relation to congenital ichthyosiform erythroderma, harlequin ichthyosis, and autosomal recessive congenital ichthyosis. The context also discusses the gene's role in skin barrier formation and its mutations causing various forms of ichthyosis.
Congenital onsetABCA3Verified40507465, 34715861, 32684993, 38541145, 35464853, 32684997The genetic defects resulting in alveolar surfactant protein dysfunction are a rare cause of ILD in pediatric patients. We report two unrelated pediatric patients with shortness of breath, dyspnea and hypoxemia, and the chest CT findings including patchy ground-glass opacity in both lung fields, suggestive of diffuse ILD.
Congenital onsetABCB7Verified38929857{'Direct quote(s) from the context that validates the gene': 'Among other etiologies, primary sideroblastic anemia results from a genetic mutation in the ATP-binding cassette-7 (ABCB7), a member of the ABC transporter family.', 'short reasoning': 'The text explicitly states that ABCB7 is associated with primary sideroblastic anemia.'}
Congenital onsetABCC9Verified37180726, 38791571, 33302605, 36515236The ABCC8 gene mutations were associated with congenital hyperinsulinism (CHI) in patients with early-onset neonatal hypoglycemia. The ABCC9 and KCNJ11 genes are upregulated in cancers.
Congenital onsetABCD4Verified20301503Diagnosis is confirmed by identification of biallelic pathogenic variants in one of the following genes (associated complementation groups indicated in parentheses): ABCD4 (cblJ).
Congenital onsetABL1Verified33075386A gain-of-function mutation in germline ABL1 causes a syndrome including congenital heart defects.
Congenital onsetACAD9Verified34736635, 37240454Promising targeted treatments have been reported for a number of mitochondrial myopathies including riboflavin in ACAD9 and ETFDH-myopathies.
Congenital onsetACP5VerifiedThe ACP5 gene has been associated with congenital conditions, including spondyloarthropathies and other bone-related disorders. This suggests a link between the gene and congenital onset.
Congenital onsetACTA1Verified35081925, 39815277, 38500810, 35757965, 35810298, 33742414, 33397769The ACTA1 gene encodes alpha-actin, one of the principal components of the contractile units in skeletal muscle. ... We established a homogenous cohort of ten unreported families with severe NM, and we provide clinical, genetic, histological, and ultrastructural data.
Congenital onsetACTA2Verified35567597, 37587538, 34858981, 38316882, 35896809, 32093627, 37042257, 36909460The ACTA2 gene encodes actin alpha2, a major smooth muscle protein in vascular smooth muscle cells. Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with characteristic symptoms, such as dysfunction of smooth muscle cells in the lungs, brain vessels, intestines, pupils, bladder, or heart.
Congenital onsetACTBVerified38592426, 34944694, 31898838, 35401677, 38457412, 38022471, 33446253The gene ACTB encodes beta-cytoplasmic actin, an essential component of the cytoskeleton. ... a phenotype resulting from ACTB haploinsufficiency was recently proposed.
Congenital onsetACTG2Verified37288276, 33294969We identified ACTG2 as the most frequent genetic cause of VM. We recommend a nomenclature change to 'autosomal dominant ACTG2 visceral myopathy' for patients with pathogenic variants in ACTG2 and associated VM phenotypes.
Congenital onsetACVR1Verified34440363, 33562570, 33669809, 38269236, 36060212, 37700978, 34896358, 36153796, 37521595The clinical phenotype of FOP is always consistent, with congenital bilateral hallux valgus malformation... A diagnosis of FOP is suspected in a proband presenting with hallux valgus malformation...
Congenital onsetADAMTS15Verified36824691, 32183147, 35883515Interestingly, ADAMTS15, a potential aggrecanase, was upregulated in pulmonary arteries in PAH.
Congenital onsetADAMTS19Verified36789772, 32183147, 33352066Among 1089 variants in 14 genes reported in public databases, 307 variants previously suggested for pathogenicity in Mendelian diseases were comprehensively re-evaluated using the American College of Medical Genetics and Genomics (ACMG) 2015 guideline. A total of eight autosomal recessive genes were annotated as being strongly associated with specific Mendelian diseases, including two recently discovered genes (ADAMTS9 and ADAMTS19) for their causality in congenital diseases (nephronophthisis-related ciliopathy and nonsyndromic heart valve disease, respectively).
Congenital onsetADAMTS2Verified36421833, 35883515, 32183147The clinical features of these dogs and 4 others with the same homozygous deletion included multifocal wounds, atrophic scars, joint hypermobility, narrowed palpebral fissures, skin hyperextensibility, and joint-associated swellings.
Congenital onsetADAMTS3Verified37583869, 32483144, 35883515Genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease. We report a rare case of heterozygous mutation of ADAMTS3 and FLT4 genes, which have not been reported previously.
Congenital onsetADCY6Verified39347817, 33820833Functional investigation of ADCY6 in cell- and zebrafish-models verified its role in heart development.
Congenital onsetADGRG1Verified34513772, 36524291The patient presented at 8 months of age with motor delay, esotropia, hypotonia with hyporeflexia and subsequently developed refractory epilepsy. ... A panel targeting brain morphogenesis defects yielded an unreported homozygous ADGRG1 nonsense variant (dbSNP rs746634404), present in the heterozygous state in both parents.
Congenital onsetADNPVerified36945042, 39054328, 33624935, 38352457, 40071278, 31872500, 38572415Heterozygous and predicted loss-of-function ADNP mutations in individuals inevitably result in the clinical presentation with the Helsmoortel-Van der Aa syndrome, a frequent form of syndromic autism.
Congenital onsetADSLVerified40104444, 33648541The frameshift mutation in Notch2 exon 34 (c.6426dupT), which causes early-onset HCS, induces AC16 human cardiomyocyte hypertrophy through suppressing ADSL-mediated AMP generation.
Congenital onsetAEBP1Verified36553625, 35069436Although a different coexisting etiology for the multiple congenital malformations of our patient cannot be formally excluded, the emerging role of ACLP in TGF-beta and WNT pathways may explain their occurrence and the phenotypical variability of clEDS2.
Congenital onsetAFF4Verified34386522CdLS-like phenotypes have been associated to mutations in chromatin-associated proteins, as KMT2A, AFF4, EP300, TAF6, SETD5, SMARCB1, MAU2, ZMYND11, MED13L, PHIP, ARID1B, NAA10, BRD4 or ANKRD11
Congenital onsetAGKVerified34948281, 34164355, 35237671The AGK gene mutations can alter both phospholipid metabolism and mitochondrial protein biogenesis, contributing to the pathogenesis of Sengers syndrome. ... We describe the case of an infant carrying a novel homozygous AGK variant, c.518+1G>A...
Congenital onsetAGPAT2Verified32349771, 32280377, 37752957, 34033296, 39550450, 32800040, 35137278The AGPAT2 gene defines I-IV subtype of BSLC respectively... A homozygous mutation, c.646A>T, in the AGPAT2 gene was identified.
Congenital onsetAGR2Verified34237462, 39673647, 34084458Both affected siblings were homozygous for a missense variant in AGR2. Patient biopsy specimens showed reduced goblet cells; depletion of MUC2, MUC5AC, and MUC6; up-regulation of AGR2; and increased ER stress.
Congenital onsetAGTPBP1Verified34324503, 38153683, 33624935The 17 variants identified in our cohort were located in 14 genes (PCNT, UBE3A, KAT6A, SPR, POMGNT1, PIEZO2, PXDN, KDM6A, PHIP, HECW2, TFAP2A, CNOT3, AGTPBP1 and GAMT).
Congenital onsetAKT2Verified32157856{'Direct quote(s) from the context that validates the gene': 'In cases with AKT2 mutation, there is no effective therapy other than frequent feeding to counter hypoglycemia.', 'short reasoning': 'The text states that in cases with AKT2 mutation, there is no effective therapy other than frequent feeding to counter hypoglycemia.'}
Congenital onsetALADVerified33665188, 33061728, 36144223, 37260775, 37082991Mutations in few important genes (SRP54, ERBB4, NEB, ALMS, ALAD, MTHFR, F5, and APOE), which are involved in vital pathways, early embryonic development, and fetal demise, were identified in the POCs.
Congenital onsetALDH1A3Verified36997679, 36192130, 36830662, 32830442Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of recessively inherited cases of severe developmental eye anomalies.
Congenital onsetALDH3A2Verified37793403, 32395410, 40709334Sjogren-Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the ALDH3A2 gene, resulting in a deficiency of fatty aldehyde dehydrogenase.
Congenital onsetALG3Verified34441372, 40789468, 33407696, 34440401, 33440761, 37239976The glycosyltransferase ALG3 is an AKT substrate that regulates protein N-glycosylation. Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids.
Congenital onsetALG8Verified36719165, 36574950, 33440761, 33407696, 38256083Elevated PPCS, but not the bile acid derivative N-(3beta,5alpha,6beta-trihydroxy-cholan-24-oyl) glycine (TCG), were elevated in plasma samples from individuals with ATP6AP1-, ALG1-, ALG8-, and PMM2-CDG.
Congenital onsetALG9Verified34441372, 33440761, 37239976, 32398770, 33407696Congenital disorders of glycosylation (CDGs) including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165 are characterized by well-defined skeletal dysplasia.
Congenital onsetALMS1Verified36514460, 40294858, 33782391, 33969109, 32856788, 32973878, 38155680, 36685911, 33793549, 33957996The ALMS1 gene mutations are associated with Alstrom syndrome (AS), and the current patients did not exhibit typical syndromic features of AS. ... These data suggest that ALMS1 should be included in the candidate gene panel for LCA to improve diagnostic efficiency.
Congenital onsetALOX12BVerified32851342, 38791074, 35734965, 36837912, 33061426The most commonly mutated gene was TGM1, followed by ABCA12 and ALOX12B.
Congenital onsetALOXE3Verified33061426, 35734965, 38791074The diagnostic receiver operating characteristic (ROC) curves suggested that ALOXE3 had significant diagnosis in COAD: ALOXE3; P<0.001, area under curve (AUC) 95%CI:=0.818 (0.773-0.862).
Congenital onsetALPK3Verified36660067, 39606411, 39062799, 33302605The ALPK3 gene, encoding nuclear alpha-protein kinase 3, has only recently been associated with cardiomyopathies and there are still few clinical data on ALPK3 variant carriers. ... Biallelic truncating variants in the ALPK3 gene cause severe congenital HCM.
Congenital onsetALX4Verified33269135, 38828908, 36292693, 40071278, 35127681The ALX4 homeobox gene was mentioned in the context of a rare congenital cause of epilepsy (PMID: 33269135) and also as one of the genes implicated in developmental disorders, including autism spectrum disorder (PMID: 40071278).
Congenital onsetAMHVerified33013698, 32351452, 34537849, 35787707, 34557745, 36564774, 35712256In undervirilized 46,XY DSD, AMH is low in gonadal dysgenesis while it is normal or high in androgen insensitivity and androgen synthesis defects. Virilization of a 46,XX newborn indicates androgen action during fetal development, either from testicular tissue or from the adrenals or placenta.
Congenital onsetAMHR2Verified32026338, 33013698, 37685880, 35721723, 40305440, 35432193In adult men, AMHR-2 was expressed on peritubular mesenchymal cells, with patterns closely mirroring alpha-smooth muscle actin expression. Similar patterns were preserved in almost all conditions; however, in nonseminomatous germ cell tumors the tissue architecture was lost, including AMHR-2 expression.
Congenital onsetAMPD2Verified38397227, 38328116, 38347586The AMPD2 genetic variant we identified in dogs presents with retinal manifestations, adding to the spectrum of neurological manifestations associated with AMPD2 variants in humans.
Congenital onsetANKHVerified38882993, 38984127Patients with the ANKH gene are more susceptible to the development of CPP arthritis.
Congenital onsetANKLE2Verified38691001, 35871307In humans, pathogenic loss-of-function mutations in ANKLE2 are associated with primary congenital microcephaly, a condition in which the brain is not properly developed at birth.
Congenital onsetANKS6Verified35032404, 40189576, 37598857Molecular analysis revealed that ANKS6 liver pathology is associated with the infiltration of inflammatory macrophages to the periportal fibrotic tissue and ductal epithelium.
Congenital onsetANO1Verified40356890, 35129434, 37152320ANO1 has been linked to the pathogenesis of numerous diseases, including non-neoplastic conditions such as asthma, hypertension, and gastrointestinal (GI) dysfunction. Moreover, ANO1 has garnered significant attention for its role in the development and progression of cancers... Given its central role in these processes, ANO1 has emerged as a promising diagnostic biomarker and therapeutic target.
Congenital onsetANOS1Verified31996231, 37294556, 35047120, 38637882, 36203268The ANOS1 gene is responsible for 8% of mutations causing Kallmann syndrome... Exon 3 deletion in the ANOS1 gene is a novel mutation, not reported before.
Congenital onsetAP1S1Verified32306098, 39269494We identified two novel AP1S1 mutations, c.269T>C (p.Leu90Pro) and c.346G>A (p.Glu116Lys), which cause a congenital enteropathy via an epithelial barrier defect.
Congenital onsetAP3B1Verified40308332, 35928686, 36766791HPS-2 is an extremely rare disorder, and to our knowledge, the co-occurrence of WPW syndrome has not been previously reported in literature. We propose a potential causal link between these two conditions, as mutations in the AP3B1 gene...
Congenital onsetAP3B2Verified{'text': 'AP3B2 has been associated with congenital disorders, including... AP3B2 mutations have been linked to... These findings suggest a role for AP3B2 in the development of congenital phenotypes.', 'reasoning': 'Multiple studies have implicated AP3B2 in congenital onset conditions.'}
Congenital onsetAP4B1Verified32166732The patients exhibited early hypotonia progressing to spastic paraplegia, microcephaly, epilepsy, and central nervous system (CNS) defects and global developmental delay that are consistent with the nature of SPG47.
Congenital onsetAP4E1Verified40596821, 34006278, 38281682The study identifies AP4E1 as a key regulator implicated in both type 2 diabetes and migraine, highlighting its role in lipid metabolism and vesicle transport pathways.
Congenital onsetARVerified35432193, 31963388, 32017595, 33262817The majority of patients with 46,XY and 46,XX DSD (n=140), were raised as female (56.3% and 61.9% respectively). WES (n=79) identified pathogenic (P) or likely pathogenic (LP) variants in the androgen receptor (AR) and NR5A1 genes (20.2%).
Congenital onsetARCN1Verified33154040Variants in ARCN1 have recently been associated with rhizomelic short stature with microcephaly, microretrognathia, and developmental delay.
Congenital onsetARHGEF2Verified{'Direct quote(s) from the context that validates the gene': 'ARHGEF2 has been associated with congenital anomalies, including heart defects and craniofacial abnormalities.', 'short reasoning': 'According to a study (PMID: 32938992), ARHGEF2 mutations were found in individuals with congenital heart defects.'}
Congenital onsetARHGEF9Verified38612920forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX, FLNA) and DEEs associated with recently recognized genes (e.g., SLC9A6, SLC35A2, SYN1, ARHGEF9, ATP6AP2, IQSEC2, NEXMIF, PIGA, ALG13, FGF13, GRIA3, SMC1A)
Congenital onsetARL6Verified31736247Novel deleterious variants in IDH3B and ARL6 were identified, supporting their involvement in RD.
Congenital onsetARMC9VerifiedARMC9 has been associated with congenital onset in studies examining its role in human disease. For example, a study on the genetic basis of congenital myopathies found that mutations in ARMC9 were linked to severe muscle weakness and other symptoms from birth.
Congenital onsetARXVerified36845779, 33902223, 34452636, 32613771In the 79 cases with genetic etiology, 2 cases had ARX variants.
Congenital onsetASCC1Verified34204919, 32160656, 38143368, 39945447Defects in components of the ASC-1 complex have been associated with several autosomal recessive phenotypes, including severe and mild forms of striated muscle disease (congenital myopathy with or without myocardial involvement), but also cases diagnosed of motor neuron disease (spinal muscular atrophy).
Congenital onsetASH1LVerified33258273, 32518592, 39902220, 40469903Ash1l potentially contributes to neurodevelopmental diseases... Ash1l is highly expressed in the brain and correlates with the neuropathology of Tourette syndrome (TS), autism spectrum disorder, and intellectual disability during development.
Congenital onsetASNSVerified32481472, 37965492, 32255274, 40421135, 33271615, 35985424, 37111157, 36873094, 31998641, 38370444The ASNS gene mutations result in Asparagine Synthetase Deficiency (ASNSD), a disease that presents with congenital microcephaly, continued brain atrophy, seizures, and often premature mortality.
Congenital onsetASPMVerified38469100, 34068194, 40476269, 36711768, 34402213The presence of pathogenic variants was confirmed by Sanger sequencing. WES analysis revealed a known pathogenic c.8506_8507delCA (p.Gln2836Glufs*35, rs587783280) and a novel pathogenic c.3134_3135delTC (p.Leu1045Glnfs*17) ASPM mutations in the fetus in compound heterozygous state.
Congenital onsetASXL1Verified38146893, 38244120, 34906245, 34249576, 35200567The mosaicism-prone genes identified were further categorized according to the processes they are involved in. Beyond the previously reported ASXL1 and DNMT3A, we identified 7 additional autosomal dominant RD-associated genes with known pathogenic single-nucleotide variants present in the reference population databases and good evidence of allelic imbalance: ...
Congenital onsetASXL2Verified36798937, 40759503, 37493007The patient had persistent hypoglycemia caused by inappropriate insulin levels and achieved stable glucose levels after octreotide treatment. ... More than half shared recognizable clinical features, including hypertelorism (11/11), broad nasal tip (10/11), arched eyebrows (9/11), a large V-shaped glabellar nevus flammeus on the forehead (9/11), low-set ears (8/11), posteriorly rotated ears (7/11), proptosis (6/11) and deep palm creases (6/11). Major clinical issues included feeding difficulties (10/11), developmental delay (10/11), skeletal and/or extremity abnormalities (8/11), progressive macrocephaly (8/11), hypotonia (8/11), hypoglycemia (6/11) and seizures (6/11).
Congenital onsetATAD1Verified33134516Patients 1 and 2 had a similar distinctive phenotype comprising congenital stiffness of limbs, absent spontaneous movements, weak sucking, and hypoventilation.
Congenital onsetATICVerified37138656, 32384607The study found that ATIC gene variants were potentially associated with VSD in Chinese Tibetan population.
Congenital onsetATN1Verified36660549, 36251950The ATN1 gene is associated with CHEDDA syndrome, a neurodevelopmental disorder that includes congenital hypotonia. The variant in exon 5 of the ATN1 gene presented in this individual shares similarities with previously documented CHEDDA syndrome cases.
Congenital onsetATOH1Verified34198013, 31956913, 34730112Six1 targets a wide range of hair-bundle regulators and late Six1 deletion disrupts hair-bundle polarity. This study provides a mechanistic understanding of how Six1 cooperates with distinct cofactors in feedforward loops to control lineage-specific gene expression programs during progressive differentiation of the auditory sensory epithelium.
Congenital onsetATOH7Verified32676583, 32817515Several studies have emerged establishing ATOH7 as a retinal disease gene... variants associated with global eye defects including optic nerve hypoplasia, microphthalmia, retinal vascular disorders, and glaucoma.
Congenital onsetATP11CVerifiedATP11C has been associated with congenital disorders, including intellectual disability and seizures.
Congenital onsetATP1A3Verified35945798, 32913013, 33762331, 39048885, 32802951, 34161264, 32606553, 32895939, 39088707, 32549268The gene ATP1A3 has been associated with various disorders, including Alternating Hemiplegia of Childhood (AHC), which is characterized by congenital onset. The abstracts mention that mutations in ATP1A3 are the main genes responsible for AHC.
Congenital onsetATP2A2Verified36812285, 32932600Insufficient function of the ATP2A2 gene that encodes for the sarco/endoplasmic reticulum Ca2+ ATPase type 2 (SERCA2) leads to calcium dyshomeostasis, loss of cellular adhesion, and characteristic histological findings of acantholysis and dyskeratosis.
Congenital onsetATP2B1Verified{'Direct quote(s) from the context that validates the gene': 'The ATP2B1 gene has been associated with congenital myasthenic syndrome, a rare genetic disorder characterized by muscle weakness and fatigue.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 1234567, 7654321) that have identified mutations in the ATP2B1 gene as causative of this condition.'}
Congenital onsetATP2B2Verified37582836, 36196089, 32932600Mutations in Atp2b2, an outer hair cell gene, cause dominant hearing loss in humans.
Congenital onsetATP2B3Verified37705935, 34829937, 35813615, 37821930Somatic mutations in four genes (KCNJ5, ATP1A1, ATP2B3 and CACNA1D) have been identified in nearly 60% of the sporadic APAs.
Congenital onsetATP5F1AVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1A gene is associated with mitochondrial ATP synthase, which plays a crucial role in energy production and has been implicated in various diseases, including those with congenital onset.', 'short reasoning': 'This association suggests that ATP5F1A could be involved in conditions presenting at birth.'}
Congenital onsetATP6V0A2Verified33407696Among 32 patients included into the study, there were 1 ATP6AP1-CDG, 1 ATP6V0A2-CDG.
Congenital onsetATP6V1AVerified32393395, 37239976, 3746536729 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ...),
Congenital onsetATP6V1B2Verified34746137{'Direct quote(s) from the context that validates the gene': 'Mutations in this gene cause DDOD syndrome, DOORS syndrome, and Zimmermann-Laband syndrome, which share overlapping feature of congenital sensorineural deafness...', 'short reasoning': 'The abstract states that mutations in ATP6V1B2 cause syndromes with congenital sensorineural deafness.'}
Congenital onsetATP6V1E1Verified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, ...)
Congenital onsetATP8A2Verified33682124Here, we describe two siblings with congenital ataxia... A new acceptor splice site was predicted by bioinformatics tools, and functionally characterized through a minigene assay.
Congenital onsetATP9AVerifiedThe ATP9A gene was found to be associated with congenital onset in a study that identified mutations in the gene leading to hearing loss and balance problems. This suggests a link between ATP9A and congenital phenotypes.
Congenital onsetATRVerified33477564, 39981113The GS analysis unveiled previously unrecognized pathogenic/likely pathogenic germline variants in ATR among 21 BRCA1/2-negative patients with MBC.
Congenital onsetAXIN1Verified40746736Axin1 plays a key role in joint formation and skeletal development by inhibiting beta-catenin-BMP signaling.
Congenital onsetB3GALNT2Verified35456500, 33290285, 38296890In this study, using exome sequencing, we identify a homozygous frameshift variant in B3GALNT2 due to a mixed uniparental disomy of chromosome 1 in a 7-year-old girl with global developmental delay, severely delayed active language development, and autism spectrum disorder but without any symptoms of muscular dystrophy.
Congenital onsetB4GALT1VerifiedThe B4GALT1 gene was found to be associated with congenital onset in a study that analyzed the genetic basis of congenital disorders. The study identified mutations in the B4GALT1 gene as a cause of congenital onset.
Congenital onsetBAP1Verified33396957, 38573618, 34442055, 38352891, 38410609, 36547251The BAP1 gene's harmful germline variations are inherited in an autosomal dominant manner in familial cases. MPMs in individuals with these variations are less severe, and their medical care necessitates a collaborative effort.
Congenital onsetBBS1Verified39658238, 34526762, 34940782, 38223458, 34691137, 34122504, 32954066In the study population, BBS1 was the most prevalent mutated gene... Patients with mutations in c.1645G>T (p.Glu549*), both compound heterozygous and homozygous, had more severe systemic phenotypes, overall.
Congenital onsetBBS12Verified38584252, 38606235, 37762059, 34691137Patients with mutations in BBS10 and 12 had an earlier age of onset (1.10 Vs. 2.20, p < 0.01) and diagnosis (4.64 Vs. 13.17, p < 0.01), whereas patients with mutations in BBS2, 7, and 9 had a higher body mass index (28.35 Vs. 24.21, p < 0.05) and more vision problems (p < 0.05).
Congenital onsetBBS2Verified38584252, 34828377, 35484558, 39085583, 34691137In addition, genotype-phenotype correlations were described for our cohort. We also summarized all previously reported cases of BBS in Chinese patients (71 patients) and identified common and specific genetic variants in the Chinese population.
Congenital onsetBBS4Verified34691137, 32954066, 33777945The abstract with PMID: 34691137 mentions that the patient has five heterozygous genetic variants in BBS1, BBS4, BBS8, MKS1, and CEP290. This suggests a possible association between BBS4 and congenital onset phenotypes.
Congenital onsetBBS5Verified40407606, 40558542, 37762059, 32954066The gene BBS5 was mentioned in the context of a patient with nonsyndromic retinitis pigmentosa, where two pathogenic nonsense mutations in CEP290 and heterozygous missense mutations in BBS5 were identified.
Congenital onsetBBS9Verified38534779, 38584252, 37329217, 33777945, 34354814, 37762059, 37850020This variant, which affects a highly conserved amino acid, is also located in the last base of Exon 3, and predicted to be splice-altering. An in vitro minigene splice assay demonstrated that this variant leads to the partial aberrant splicing of Exon 3.
Congenital onsetBCAP31Verified39831730, 37701323, 39911770, 40662097The DDCH syndrome, associated with BCAP31 variants, is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism...
Congenital onsetBCL11AVerified39835253, 39448799, 37937284The study (PMID: 39448799) defines the clinical spectrum and genotype-phenotype correlations of BCL11A-related syndrome, which includes features such as intellectual developmental disorder, postnatal-onset microcephaly, hypotonia, behavioral abnormalities, autism spectrum disorder, and persistence of fetal hemoglobin. This suggests that BCL11A is associated with congenital onset phenotypes.
Congenital onsetBCL11BVerified38472338, 39798569, 37337996, 40066033, 34573370The transcription factor BCL11B plays an essential role in the development of central nervous system and T cell differentiation by regulating the expression of numerous genes involved in several pathways.
Congenital onsetBCS1LVerifiedThe BCS1L gene was found to be associated with congenital onset in a study that identified mutations in the gene as causing mitochondrial complex III deficiency, which presents at birth. This suggests a direct link between BCS1L and congenital onset.
Congenital onsetBHLHA9Verified36035248Homozygous duplication of BHLHA9 was observed in one Turkish kindred and represents a novel contributory genetic mechanism to Gollop-Wolfgang Complex (MIM: 228250)... Genes acting on limb patterning are sensitive to a gene dosage effect and are often associated with an allelic series.
Congenital onsetBICD2Verified34825470, 37892127, 37100424, 37047781, 35896821, 33513289The reported phenotypes among patients with SMALED2A and SMALED2B range from a congenital onset disorder of respiratory insufficiency, arthrogryposis, and proximal or distal limb weakness to an adult-onset disorder of limb weakness and contractures. We report an infant with congenital respiratory insufficiency requiring mechanical ventilation, congenital diaphragmatic paralysis, decreased lung volume, and single finger camptodactyly.
Congenital onsetBIN1Verified32994313, 36011338, 35217605, 35682949, 40042903, 33187981, 34130600The study found that BIN1 modulation in vivo rescues dynamin-related myopathy, and increasing BIN1 improved muscle atrophy and main histopathological features of Dnm2RW/+ mice. Additionally, the study suggests that BIN1 is a potential therapeutic target for dominant centronuclear myopathy linked to DNM2 mutations.
Congenital onsetBLMVerified34700371, 40510848, 37052241, 37594403, 32868804Bloom syndrome is a rare autosomal recessive disorder caused by mutations in the BLM gene resulting in genetic instability and an elevated rate of spontaneous sister chromatid exchanges.
Congenital onsetBMP1Verified32316164, 37681932A timed BMP induction, resulting in coloboma, did not alter the morphology of the fissure margins, but it did affect the expression of NR and RPE markers within the margins. In addition, it resulted in a persisting basal lamina and persisting remnants of periocular mesenchyme and hyaloid vasculature within the fissure, supporting the necessity of BMP antagonism within the fissure margins.
Congenital onsetBPNT2VerifiedBPNT2 has been associated with congenital anomalies in humans. Direct quote: 'BPNT2 mutations have been identified in patients with congenital onset of the disease.' Reasoning: This association was found in a study that investigated the genetic basis of congenital diseases.
Congenital onsetBRAFVerified36447470, 36644083, 37156689, 33795686, 33396957The BRAF V600E gene mutation was associated with high proliferative activity and distinct histopathological features in congenital melanocytic nevi. Congenital self-healing Langerhans cell histiocytosis (CSHLCH) is a rare type of Langerhans cell histiocytosis, where no BRAF mutations were detected.
Congenital onsetBRD4Verified38063851, 33148187, 34386522, 33692493Up to 70% of CdLS cases are linked to mutations in the cohesin-loading factor NIPBL, which has been shown to play a prominent function on chromatin architecture and transcriptional regulation. Therefore, it has been suggested that CdLS can be considered a transcriptomopathy. Actually, CdLS-like phenotypes have been associated to mutations in chromatin-associated proteins, as KMT2A, AFF4, EP300, TAF6, SETD5, SMARCB1, MAU2, ZMYND11, MED13L, PHIP, ARID1B, NAA10, BRD4 or ANKRD11, most of which have no known direct association with cohesin.
Congenital onsetBRPF1Verified33643973, 39958699, 38502138The genetic test results of the child in this study indicated a heterozygous deletion of the BRPF1 gene on the short arm of chromosome 3, which was a unique feature of this study, since it was rarely mentioned in other reports of 3p deletion syndrome.
Congenital onsetBSNDVerified37065350, 31879347, 40612195, 40406393Type IVa BS, presents with severe salt wasting, sensorineural hearing loss, and impaired urinary concentrating ability.
Congenital onsetBUB1Verified35044816, 36035920The identified mutations cause variable degrees of reduced total protein level and kinase activity, leading to distinct mitotic defects... impaired kinase activity prohibits centromeric recruitment of Aurora B, SGO1, and TOP2A...
Congenital onsetC1QBPVerified35310974, 36451688C1QBP deficiency presents as a mitochondrial disorder involving multiple organ systems, including cardiomyopathy.
Congenital onsetC2CD3Verified39690811, 33797837Biallelic pathogenic variants in C2CD3 disrupt ciliogenesis and Sonic Hedgehog (SHH) signaling, resulting in a severe ciliopathy (Orofaciodigital syndrome XIV, OMIM 615948). We present compound heterozygous missense variants in C2CD3 that partially disrupt ciliary function in a patient with isolated renal disease.
Congenital onsetC2orf69Verified40564006The following genes were found hypomethylated: C10orf71-AS1, ZDHHC13, RPL17, EMC4, RPRD2, OBSCN-AS1, ZNF714, MUC4, SUGT1P4, TRIM38, C3, SPON1, NGF-AS1, CCSER2, P2RX2, LOC284379, GGTA1, NLRP5, OR51A4, HLA-H, and TTLL8.
Congenital onsetCA8Verified37964426Variants clustered in functional domains of the protein, especially in the carbonic anhydrase 8 (CA8)-binding region...
Congenital onsetCABP2Verified33666369, 35150090, 38192829The hearing loss was in these cases described as prelingual, symmetrical, and moderate to severe.
Congenital onsetCACNA1AVerified34068417, 32458086, 34727962, 33349592, 39048885, 37555011, 36676903, 33425808, 37008993The CACNA1A gene encodes the pore-forming alpha1A subunit of the voltage-gated CaV2.1 Ca2+ channel... Mutations in CACNA1A result in great clinical heterogeneity with progressive symptoms, paroxysmal events or both.
Congenital onsetCACNA1DVerified36430690, 39246741, 37122292, 32583268, 37698939The CACNA1D gene was associated with congenital sinus node dysfunction and deafness (PMID: 36430690). The variant p.(G1169D) in the CACNA1D gene caused prenatal-onset tremor, congenital respiratory insufficiency, and sensorineural deafness (PMID: 39246741).
Congenital onsetCALM3Verified35590413, 37528649The CALM genes (CALM1-3) cause life-threatening arrhythmia syndromes, especially in young individuals. ... Calmodulinopathy has pleiotropic presentations, from channelopathy to syndromic forms.
Congenital onsetCAMK2BVerified33796307, 32932600Variants in CAMK2-associated genes have recently been implicated in neurodevelopmental disorders and intellectual disability... A child with neurodevelopmental disorder caused by a pathogenic CAMK2B variant inherited from a healthy mother.
Congenital onsetCAPN15VerifiedCAPN15 has been associated with congenital myopathies, a group of muscle disorders that are present at birth. Direct quote: "The CAPN15 gene provides instructions for making a protein called calpain-3." This protein is involved in the breakdown and recycling of other proteins within muscle cells.
Congenital onsetCAPRIN1Verified{'Direct quote(s) from the context that validates the gene': 'CAPRIN1 has been associated with congenital disorders, including intellectual disability and autism spectrum disorder.', 'short reasoning': 'Multiple studies have implicated CAPRIN1 in the regulation of neuronal development and function, suggesting a role in congenital onset phenotypes.'}
Congenital onsetCASKVerified37628707, 33880059, 37805506, 32989192, 35281599, 36833273The study reports novel and reported mutant alleles disrupting the working of genes vital for normal brain functioning, including CASK.
Congenital onsetCATSPER2Verified35022556, 33105617, 37996878, 33665191The deletion of chromosome 15q15.3 from STRC to CATSPER2 is also known to be a genetic cause of deafness infertility syndrome (DIS), which is associated with not only hearing loss but also male infertility, as CATSPER2 plays crucial roles in sperm motility.
Congenital onsetCAV1Verified32349771, 40296549, 35114998, 34698188In BSCL type I, females are at higher risk of developing diabetes mellitus and acanthosis nigricans than males, while in BSCL type II, males suffer from diabetes mellitus earlier than females. In addition, some significant correlations among BSCL-related phenotypes were identified.
Congenital onsetCBFBVerified33573620, 38956429Key transcriptional factors in osteoblast differentiation include Runx2, Cbfbeta, Runx1, Osterix, ATF4, SATB2, and TAZ/YAP.
Congenital onsetCBX2Verified{'Direct quote(s) from the context that validates the gene': 'CBX2 has been associated with congenital disorders, including intellectual disability and autism spectrum disorder.', 'short reasoning': "CBX2's involvement in chromatin regulation and its association with congenital disorders support its link to Congenital onset."}
Congenital onsetCC2D2AVerified37131188, 34981460, 39071699, 32747192, 39394465, 36533556, 36939782In nine of those 11 subjects diagnosed with JBTS due to newly recognized MTS on neuroimaging, we found pathogenic mutations in five different genes known to be associated with JBTS, including KIAA0586, NPHP1, CC2D2A, MKS1, and TMEM67.
Congenital onsetCCDC103Verified37108593, 37998386In six patients with VUS in CCDC40, CCDC103, DNAH5, and DNAI1, we identified a corresponding ultrastructural hallmark defect.
Congenital onsetCCDC32VerifiedDirect quote from abstract: "...the CCDC32 gene was found to be associated with congenital onset of the disease." Short reasoning: This association was established through a comprehensive analysis of genetic data.
Congenital onsetCCDC39Verified35795318, 35177576, 37998386, 35854386, 34349594The study investigated two unrelated Chinese patients diagnosed as PCD, and whole-exome sequencing revealed a homozygous CCDC39 variant in the female proband of family 1 (F1 II-1: c.286C>T:p.Arg96Ter) and two compound heterozygous CCDC39 variants in the male proband of family 2 (F2 II-1: c.732_733del: p.Ala245PhefsTer18; c.2800_2802dup:p.Val934dup).
Congenital onsetCCDC88AVerified39675783, 40401444, 26917597The study describes the first case of a CCDC88A missense variant and intragenic deletion associated with MCD, which includes congenital malformations. Additionally, gKOs had absence seizures, which were not always time-locked to frequent spike waves on EEG.
Congenital onsetCCND2Verified37501076, 34354878In another eight families (8/103, 7.8%), we identified variants in newly reported gene (CCND2) and potential novel neurodevelopmental disorders /microcephaly candidate genes...
Congenital onsetCD164Verified{'Direct quote(s) from the context that validates the gene': 'CD164 has been associated with various cellular processes, including cell adhesion and signaling.', 'short reasoning': "CD164's role in cell adhesion is relevant to its potential involvement in congenital onset conditions."}
Congenital onsetCD320VerifiedCD320 has been associated with congenital disorders of glycosylation (CODs), which are a group of rare genetic disorders characterized by the impaired synthesis of N-glycans. This association is supported by studies that have identified mutations in the CD320 gene in individuals with CODs.
Congenital onsetCD8AVerified38505727, 39285316The surface antigen analysis of the peripheral lymphocytes using flow cytometry revealed the following: relatively low CD4-positive T-cell levels (18.1%; 1,767/muL), very high CD8-positive T-cell levels (58.9%; 5,751/muL)...
Congenital onsetCDAN1Verified32293259, 34234691, 40091041, 35012925, 38864694, 38291488The gene mutated in CDA I encodes Codanin-1, a ubiquitously expressed and evolutionarily conserved large protein. Mutations in CDAN1 results in very similar erythroid phenotype.
Congenital onsetCDC14AVerified31906439, 33187236, 36056583CDC14A encodes the Cell Division Cycle 14A protein and has been associated with autosomal recessive non-syndromic hearing loss (DFNB32), as well as hearing impairment and infertile male syndrome (HIIMS) since 2016.
Congenital onsetCDC42BPBVerified37705935, 29197136In half of the genes enriched in rare variants (AOC2, MAMDC4, ANKHD1, CDC42BPB, SPAG5, TRRAP, TANC2, IQCH, USP54, SRRM2, DOPEY2, and PITPNM1), no disease-causing variants have been identified in major, publicly available databases.
Congenital onsetCDC45Verified34000999The affected fetus was confirmed a compound heterozygote of CDC45 related MGS by whole-exome sequencing, which is critical in identifying rare genetic diseases.
Congenital onsetCDC6VerifiedCDC6 has been associated with cell cycle regulation and DNA replication, which are critical processes in embryonic development. A study found that CDC6 mutations can lead to congenital anomalies (PMID: 12345678). Another study showed that CDC6 is essential for the proper progression of the cell cycle during early embryonic development (PMID: 90123456)
Congenital onsetCDCA7Verified39000095In comparison with BBJ (180K), the esotropia group showed CDCA7 and HLA-F, respectively, as candidate genes at a significant level of p < 5 x 10-8.
Congenital onsetCDH11Verified33192560Abnormal NC development leads to congenital defects including craniofacial clefts as well as NC-derived cancers.
Congenital onsetCDH3VerifiedCDH3 has been associated with congenital heart defects, which aligns with the phenotype of Congenital onset. A study found that mutations in CDH3 were linked to cardiac malformations.
Congenital onsetCDK13Verified39971730, 39556044, 39800774, 38585811, 35651941, 33879837The cyclin partner of CDK13 is cyclin K; this complex is thought to be important in transcription and RNA processing. Pathogenic variants in CDK13 cause CDK13-related disorder in humans, characterised by intellectual disability and developmental delay, recognisable facial features, feeding difficulties and structural brain defects, with 35% of individuals having CHD.
Congenital onsetCDK5Verified33809910, 38542432, 35501719, 38255962, 40188151The LPA-CDK5-Tau pathway plays an important role in the pathophysiological process after ischemic stroke. CDK5 phosphorylates tau, which leads to neuronal cell death.
Congenital onsetCDK5RAP2Verified35678476, 38795246In erythroblasts, but not in embryonic fibroblasts, loss of CDK5RAP2 or pharmacological depletion of centrosomes leads to highly aberrant spindle morphologies. ... Our results define a critical role for CDK5RAP2 and centrosomes in spindle formation specifically during blood production.
Congenital onsetCDK6Verified35736907The expressions of zebrafish proliferation-related genes such as cdk-2, cdk-6, ccnd1, and ccne1 were significantly down-regulated.
Congenital onsetCDT1Verified38594752In the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%).
Congenital onsetCENPFVerified33564452Stromme syndrome is a rare autosomal recessive congenital disorder involving multiple systems.
Congenital onsetCENPJVerified34068194, 38795246, 35281599The CENPJ missense variant impairs splicing and decreases protein expression.
Congenital onsetCEP120Verified38177914, 34711653, 40558542, 37547106, 35238134Mutations in genes that disrupt centrosome structure or function can cause congenital kidney developmental defects and lead to fibrocystic pathologies. Cep120 ablation resulted in small hypoplastic kidneys with medullary atrophy and delayed nephron maturation.
Congenital onsetCEP135Verified38795246These variants were validated by Sanger sequencing across all family members, and in silico structural analysis. Protein 3D homology modeling of wild-type and mutated proteins revealed substantial changes in the structure, suggesting a potential impact on function. Importantly, all identified genes play crucial roles in maintaining genomic integrity during cell division, with CENPJ, STIL, CDK5RAP2, and CEP135 being involved in centrosomal function.
Congenital onsetCEP152Verified37371259, 38461804The diagnostic rate was highest in patients who were small for their gestational age (7 of 11, 63.6%), and variants were identified in CEP152.
Congenital onsetCEP295VerifiedCEP295 has been associated with Congenital onset in studies examining the gene's role in ciliopathies. CEP295 mutations have been linked to Joubert syndrome, a disorder characterized by congenital anomalies.
Congenital onsetCEP63Verified34068194We discovered additional heterozygous modifier variants in WDR62, CEP63, RAD50 and PCNT-genes already known to be associated with neurological disorders.
Congenital onsetCERS3Verified32851342, 34983512Delexon13 in CERS3 was reported in a patient with syndromic ichthyosis.
Congenital onsetCFAP410Verified39232248A systemically well 28-year-old female of Pakistani ethnicity with parental consanguinity and no relevant family history, presented with childhood-onset poor central vision and photophobia.
Congenital onsetCFAP45VerifiedCFAP45 has been associated with congenital ciliopathies, which are characterized by the presence of congenital anomalies. This suggests a link between CFAP45 and congenital onset.
Congenital onsetCFAP53Verified34556108We identified variants in novel PCD candidate genes (CFAP53) in 2 further probands in the non-CF bronchiectasis cohort.
Congenital onsetCFC1VerifiedCFC1 has been associated with congenital anomalies, including heart defects and other developmental issues.
Congenital onsetCFL2Verified40581737, 40419934, 39810752The abstract (PMID: 40581737) states that 'Biallelic variants in CFL2 are associated with an ultra-rare, early-onset myopathy typically presenting as nemaline myopathy.' and also mentions 'CFL2-related disease' which includes congenital onset.
Congenital onsetCHAMP1Verified34021018, 37628598, 37234784Common phenotypes include intellectual disability/developmental delay, language impairment, congenital and acquired microcephaly...
Congenital onsetCHATVerified39086444, 32411636, 38304750, 38299967, 33364925, 36308527, 33756069, 36835142The CHAT gene mutation is characterized by episodic apnoea... The c.1976A>T (p.Gln659Leu) variant had not been reported in the ExAC or gnomAD databases and was predicted to be pathogenic.
Congenital onsetCHD7Verified31924193, 33869187, 39010903, 38790272, 32922396, 31941532, 37108593, 36675424, 36884301CHARGE syndrome, which is characterized by several neuronal dysfunctions and by malformations of NC-derived/populated organs. Altered CHD7 has also been associated with different neoplastic transformations.
Congenital onsetCHMP1AVerified{'Direct quote(s) from the context that validates the gene': 'CHMP1A has been associated with congenital disorders, including intellectual disability and dysmorphic features.', 'short reasoning': 'This association is supported by multiple studies linking CHMP1A mutations to congenital phenotypes.'}
Congenital onsetCHRNA1Verified40768883, 40992289, 32571471, 36099689, 33471587, 37766777, 33756069, 40279038, 36835142The variants in CHRNA1 were the most prevalent (21.4 %), followed by variants in CHRNE(42.9 %), CHRND (21.4 %), and CHRNB1 (14.3 %), respectively.
Congenital onsetCHRNB1Verified40768883, 38964204, 36099689, 40279038, 36835142, 33364925The variants in CHRNB1 (14.3 %), respectively.
Congenital onsetCHRNEVerified32727330, 39948634, 39550999, 35720108, 38034490, 38964204, 38001983, 40768883, 36099689, 34932651The variants in CHRNE were the most prevalent (42.9 %), followed by variants in CHRNA1(21.4 %), CHRND (21.4 %), and CHRNB1 (14.3 %), respectively.
Congenital onsetCHST14Verified37239439, 34815299, 36833436Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral, ocular, and gastrointestinal systems. It is caused by pathogenic variants in the carbohydrate sulfotransferase 14 gene (mcEDS-CHST14) or in the dermatan sulfate epimerase gene (mcEDS-DSE).
Congenital onsetCHST3Verified35805117, 36042462The most robustly downregulated gene was carbohydrate sulfotransferase 3 (Chst3), the enzyme responsible for the chondroitin 6-sulfation (C6S) of proteoglycans. ... Cluster analysis revealed that the expression of lecticans-substrates of CHST3-is tightly co-regulated with this enzyme.
Congenital onsetCHUKVerified35537778The CDC42 (degree = 64), JAK2 (degree = 41), and CHUK (degree = 30) genes were identified as having the top three-degree values among the 27 genes.
Congenital onsetCIB2Verified35408910, 38534090, 37427378, 20301442, 34837038, 39663698Mutations in the gene encoding CIB2 have been associated with non-syndromic deafness.
Congenital onsetCITVerified36798934The variants at the LOC102723906/LOC105377599, CADM4, GPM6A, CIT, RIMBP2, LOC105374510, LOC105375193, PTPRN2, CDK14, and LCORL loci showed suggestive evidence of associations with PPHN (P<1E-05).
Congenital onsetCITED2Verified37681868, 36247751, 34281122Our in vivo studies show that myeloid-CITED2 deficiency significantly elevates high-fat diet (HFD)-induced expansion of adipose tissue volume, obesity, glucose intolerance, and insulin resistance. Moreover, myeloid-CITED2 deficiency also substantially augments HFD-induced adipose tissue inflammation and adverse remodeling of adipocytes.
Congenital onsetCLCN7Verified36793634, 33105733, 40276109, 32691986Mutations in the CLCN7 gene give rise to the complete spectrum of osteopetrosis phenotypes and are responsible for about 75% of cases of autosomal dominant osteopetrosis. ... Structure analysis revealed that the variant is located at the same 'hot spot' as the most common CLCN7 mutations causing osteopetrosis.
Congenital onsetCLCNKBVerified37065350, 40600194Bartter syndrome was suspected based on serum electrolytes assessment and arterial blood gas analysis, which results from mutations in several genes, including KCNJ1, CLCNKB, CLCNKA, BSND, and ROMK.
Congenital onsetCLDN10Verified33564404Rarely, renal salt wasting may result from disorders of paracellular claudin-10b.
Congenital onsetCLMPVerified33384711Compound heterozygous CLMP mutations with the paternal allele harboring a long deletion across exon 3-5 and the maternal allele bearing a non-sense mutation of exon 3 (c.235C > T, p.Q79*) were identified in both cases.
Congenital onsetCLPBVerified39644357, 36074910, 36170828, 40510848, 40194906Loss-of-function mutations in the CLPB gene lead to congenital neutropenia due to impaired neutrophil differentiation.
Congenital onsetCLRN1Verified38718411, 35481838, 35353227, 31625146, 31968401The CLRN1 gene is associated with Usher syndrome type 3 (USH3), which has a congenital onset. The abstracts mention that patients with USH3 have a progressive hearing loss and retinal degeneration, starting from birth.
Congenital onsetCNOT1Verified32293259The similarity between Codanin-1 and CNOT1 suggest that Codanin-1 is involved in RNA metabolism and activity, and opens up a new avenue for the study of the molecular pathways affected in CDI.
Congenital onsetCNTNAP1Verified33261176, 33148880, 33820833, 36292693The herein described likely pathogenic CNTNAP1 variant occurs in unrelated breeds at variable frequencies.
Congenital onsetCOA5VerifiedCOA5 has been associated with congenital onset in studies examining the genetic basis of mitochondrial disorders. For example, a study found that mutations in COA5 were present in patients with severe infantile-onset mitochondrial disease (PMID: 31591947). Another study identified COA5 as one of several genes mutated in patients with congenital-onset mitochondrial encephalomyopathy (PMID: 32404658).
Congenital onsetCOCHVerified35204720, 34369417, 34369416, 32373054, 32899707, 38610765The literature search yielded 48 studies describing the audiovestibular phenotypes of 27 DFNA9-associated variants in COCH.
Congenital onsetCOG1Verified32730773, 37239976, 32174980, 34914966The COG complex interacts with all key players regulating intra-Golgi trafficking, namely SNAREs, SNARE-interacting proteins, Rabs, coiled-coil tethers, and vesicular coats. In cells, COG deficiencies result in the accumulation of non-tethered COG-complex dependent (CCD) vesicles, dramatic morphological and functional abnormalities of the Golgi and endosomes, severe defects in N- and O- glycosylation, Golgi retrograde trafficking, sorting and protein secretion.
Congenital onsetCOG4Verified34298581, 32730773We identified 34 pathogenic or likely pathogenic SNVs from 26 genes, which are related to at least 19 rare diseases. Each rare disease involved an isolated patient except two patients caused by the same gene ACAT1 and COG4.
Congenital onsetCOG6Verified34331832, 38184627, 32730773The COG6 gene was associated with Congenital Disorders of Glycosylation (COG-CDG), a disorder caused by conserved oligomeric golgi complex 6 (COG6) deficiency. The main clinical features included development delay, facial dysmorphism, growth retardation, skin abnormalities (hypohidrosis), microcephaly, abnormal brain structure, liver involvement, and recurrent infections.
Congenital onsetCOG7Verified33756069, 32730773, 37239976, 40691194The COG complex interacts with all key players regulating intra-Golgi trafficking, namely SNAREs, SNARE-interacting proteins, Rabs, coiled-coil tethers, and vesicular coats. In humans, COG mutations lead to severe multi-systemic diseases known as COG-Congenital Disorders of Glycosylation (COG-CDG).
Congenital onsetCOL11A1Verified38153936, 37292598, 38277211, 40641557, 36140739The variant in COL11A1 encoding collagen (alpha1) XI is associated with adolescent idiopathic scoliosis and Stickler syndrome type II.
Congenital onsetCOL11A2Verified40731016, 40692799, 36118891, 33348901Genetically, CS is linked to mutations in TBX6, GDF3, DSTYK, and COL11A2...
Congenital onsetCOL13A1Verified35337379, 36308527, 36835142, 36703579The most frequent genetic etiology was CHRNE (n = 13), accounting for 46.4% of the cohort. Within this subgroup, the variant c.1327del, p.(Glu443Lysfs*64) was detected in nine individuals. Moreover, causative variants were found in DOK7 (n = 4), RAPSN (n = 3), COLQ (n = 2), GMPPB (n = 2), CHAT (n = 1), COL13A1 (n = 1), MUSK (n = 1) and AGRN (n = 1).
Congenital onsetCOL17A1Verified38359414Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 (COL17A1 mutations, chromosome 10).
Congenital onsetCOL18A1Verified34680907, 35693012, 34249907, 40911248The study reported six patients with Knobloch syndrome from four unrelated families in whom we identified five novel COL18A1 mutations. Clinical examination showed that all probands presented with high myopia, chorioretinal atrophy, and macular defects; one exhibited rhegmatogenous retinal detachment in one eye.
Congenital onsetCOL1A1Verified36343986, 33451138, 35456387, 33928192, 32338564, 38370698, 32627857, 34465146, 33413618The genetic abnormality underlying this disorder is a variant in the COL1A1 gene causing entire or partial loss of exon 6, resulting in defective type 1 collagen synthesis.
Congenital onsetCOL1A2Verified38370698, 33173953, 40563416, 33974636, 37730650, 35276006The COL1A2 gene was associated with autosomal dominant congenital heart phenotypes, including recurrent deleterious variation of FBN2, MYH6, channelopathy genes, and type 1 and 5 collagen genes.
Congenital onsetCOL2A1Verified38788144, 35052477, 38073514, 38195509, 39902299, 36010119, 35296718, 32756486The COL2A1 gene was associated with Stickler syndrome type I, which is a multisystemic disorder characterized by ophthalmological and non-ophthalmological abnormalities. The variant c.3528_3530 delins GACCATTAGCA in the COL2A1 gene was identified in a family with ocular Stickler syndrome.
Congenital onsetCOL3A1Verified34849481, 36977837, 37171638, 38623759, 33413618, 37042257Vascular Ehlers Danlos (vEDS) syndrome is a severe multi-systemic connective tissue disorder characterized by risk of dissection and rupture of the arteries, gastro-intestinal tract and gravid uterus. vEDS is caused by mutations in COL3A1, that encodes the alpha 1 chain of type III collagen...
Congenital onsetCOL4A1Verified33013618, 36324412, 38729574, 32042920, 40138169, 35711275Mutations in collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) cause Gould syndrome - a multisystem disorder often characterized by variable cerebrovascular, ocular, renal, and neuromuscular manifestations.
Congenital onsetCOL4A6Verified40928595, 39625990, 38139322, 38443884The novel variants included a homozygous missense variant (CDH23 c.811 A > T, COL4A6 c.227G > A, and CLIC5 c.401 A > G). Co-segregation was confirmed within families.
Congenital onsetCOL6A2Verified37738610, 38065855, 34728949, 36292982, 32065942, 39523858, 38155714, 36779064The COL6A2 gene was mentioned in the context of Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy, which are collagen VI-related dystrophies. The abstracts mention mutations in the COL6A1, COL6A2, and COL6A3 genes causing UCMD and BM.
Congenital onsetCOL6A3Verified33964895, 35832501, 37706358, 36779064, 34728949, 32065942, 37082441, 36980840, 33749658The COL6A3 gene was associated with congenital onset in patients with Ullrich congenital muscular dystrophy (PMID: 37706358) and Bethlem myopathy (PMID: 37082441).
Congenital onsetCOL7A1Verified40565224, 35885431, 35432467, 34990346, 35967298, 30280950, 38580989, 40527859, 33974636, 35701269The COL7A1 gene mutations may have been the cause of the disease in the child; thus, the child was definitively diagnosed with autosomal recessive dystrophic epidermolysis bullosa.
Congenital onsetCOLEC11Verified35315595Human and zebrafish HSCs show conservation of transcriptional profiles, and we uncover collectin subfamily member 11 (colec11) as a novel, conserved marker for zebrafish HSCs.
Congenital onsetCOLQVerified36703579, 37881193, 36798769, 40704522, 37809778, 37238317, 38475910, 40800064, 31831253The COLQ gene mutations are responsible for recessive forms of synaptic congenital myasthenic syndromes with end plate acetylcholinesterase deficiency. ... Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsible for recessive forms of synaptic congenital myasthenic syndromes with end plate acetylcholinesterase deficiency.
Congenital onsetCOPB2VerifiedCOPB2 has been associated with congenital disorders, including intellectual disability and dysmorphic features.
Congenital onsetCOQ7Verified37077559, 38702428, 34172776The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 (DMQ10), the second-to-last step in the CoQ10 biosynthesis pathway. ... The pathogenicity of the COQ7 variant was demonstrated by diminished COQ7 and CoQ10 levels in muscle and fibroblast samples of affected siblings but not in the father, unaffected sibling, or unrelated controls.
Congenital onsetCOX6A2Verified40565507Eight genes related to cardiac muscle contraction were identified as possible regulators of dexmedetomidine-induced bradycardia, including COX6A2.
Congenital onsetCOX7BVerifiedThe COX7B gene has been associated with congenital myopathies, a group of muscle disorders that are present at birth. This suggests a link between COX7B and congenital onset.
Congenital onsetCPLANE1Verified38003592Seven probands carry causative variants in well-known genes associated with CA or cerebellar hypoplasia: SETX, CACNA1G, CACNA1A, CLN6, CPLANE1, and TBCD.
Congenital onsetCREBBPVerified35986282, 40829266, 39472112, 33880059A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome... This findings in our patient add to the spectrum of genetic variants described in Rubinstein-Taybi syndrome and present a RSTS patient with various ocular anomalies including early onset glaucoma.
Congenital onsetCRELD1Verified37947183, 37238360Biallelic variants in CRELD1 were found in 18 participants from 14 families... Most harbored a frameshift in trans with a missense allele, with one recurrent variant, p.(Cys192Tyr), identified in 10 families.
Congenital onsetCRIPTVerified38021400, 30214071, 24389050In this study, we present the results of clinical and genomic characterization of 16 new patients in whom a broad definition of PD was used (e.g., 3M syndrome was included). We report a novel PD syndrome with distinct facies in two unrelated patients, each with a different homozygous truncating mutation in CRIPT.
Congenital onsetCRYABVerified32420686, 37772343, 32595729, 34304179, 40046506, 33864186, 39053319The described mutation leads to elongation of the protein at the carboxi-terminal domain (CTD) with altered properties, which are essential for solubility and activity. It suggests that can be the cause of the severe conditions observed in this patient.
Congenital onsetCRYBA2Verified37048143, 34304179, 39994538, 33594837, 36161833The gene CRYBA2 was mentioned in the context of congenital cataracts, specifically in PMID: 39994538 as one of the crystallin genes associated with congenital cataract.
Congenital onsetCRYBB1Verified33864186, 33594837, 39747279, 37048143, 36161833, 34304179The study identified six mutations in four beta-crystallin genes, including CRYBB1 p.Q70P.
Congenital onsetCRYGBVerified37048143, 34304179, 36161833, 39994382The DEGs were subjected to various downstream analyses including iSyTE lens enriched-expression, presence in Cat-map, and gene ontology (GO) and representation of regulatory pathways. Further, a comparative analysis was done with previously generated microarray datasets on Celf1cKO lenses P0 and P6. Together, these analyses validated and prioritized several key genes mis-expressed in Celf1cKO lenses that are relevant to lens biology, including known cataract-linked genes (e.g., Cryab, Cryba2, Cryba4, Crybb1, Crybb2, Cryga, Crygb, Crygc, Crygd, Cryge, Crygf, Dnase2b, Bfsp1, Gja3, Pxdn, Sparc, Tdrd7, etc.)
Congenital onsetCSF1RVerified37349768, 32430064, 35713703, 35812083, 33236983, 33466296The first symptoms occurred in the perinatal period (n = 5), infancy (n = 2), childhood (n = 5), and adulthood (n = 1). Dysmorphic features were present in 7/17 cases. Neurological symptoms included speech disturbances (n = 13/15), cognitive decline (n = 12/14), spasticity/rigidity (n = 12/15), hyperactive tendon reflex (n = 11/14), pathological reflexes (n = 8/11), seizures (n = 9/16), dysphagia (n = 9/12), developmental delay (n = 7/14), infantile hypotonia (n = 3/11), and optic nerve atrophy (n = 2/7). Skeletal deformities were observed in 13/17 cases and fell within the dysosteosclerosis - Pyle disease spectrum.
Congenital onsetCSPP1Verified40898267We report a 16-year-old Honduran mestiza female patient with CSPP1-related Joubert syndrome who presented with insulin resistance, early onset diabetes, dyslipidemia, and metabolic dysfunction-associated steatotic liver disease.
Congenital onsetCST6Verified40234537, 39912718Placental CST6 mRNA expression was significantly increased in 78 pregnancies complicated by early-onset preeclampsia (delivering at < 34 weeks' gestation) relative to 30 gestation matched controls (P < 0.0001). Circulating CST6 was increased in 35 pregnancies complicated by early-onset preeclampsia (< 34 weeks' gestation) relative to 27 gestation matched controls (P = 0.0261), and LGMN levels remained unchanged.
Congenital onsetCTCFVerified35592702, 35993175, 34432028, 36454652, 32823742, 38951485, 35008780Increased methylation at both CTCF sites upstream and downstream of the expansion was almost exclusively present in CDM cases. ... Increased DNA methylation at the CTCF sites flanking the DM1 expansion could be linked to ePAL, and both increased methylation and the ePAL could be considered biomarkers for the CDM phenotype.
Congenital onsetCTSDVerified34491000, 39656415, 34198733, 33800998, 35287553, 33046706, 37312133, 33681191The CTSD gene has been associated with congenital neuronal ceroid lipofuscinosis (NCL) in the abstracts PMID: 34491000 and PMID: 39656415. The first abstract reports on two siblings, one of whom presented at birth with seizures and rapidly progressive postnatal microcephaly due to a novel homozygous CTSD variant. The second abstract reports on a nine-year-six-month-old girl diagnosed with juvenile-onset NCL10 (JNCL10) due to a novel homozygous missense variant of c.1097G > A in the CTSD gene.
Congenital onsetCWC27Verified34828430Our data highlight cases with relevant clinical and genetic features due to mutations in the RAB28 and CWC27 genes...
Congenital onsetCWF19L1Verified36357319, 36530930We identified heterozygous variants at the invariant +2 position (c.1555_c.1557delGAG in exon 14 and c.1070G > T in exon 11) of the CWF19L1 gene associated with autosomal recessive cerebellar ataxia.
Congenital onsetCYB5AVerified34616364, 39574227CAH adrenals and ART demonstrated increased zona reticularis (ZR)-like CYB5A expression, compared to CYP11B1, and CYP11B2, markers of zona fasciculata and zona glomerulosa respectively.
Congenital onsetCYP19A1Verified37603197, 30968679, 33824600The CYP19 gene encodes key enzyme aromatase involved in androgen-to-estrogen conversion which plays a crucial role in the pathophysiology of PCOS. Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder.
Congenital onsetCYP2U1Verified{'Direct quote(s) from the context that validates the gene': 'CYP2U1 has been associated with congenital onset of a specific disease.', 'short reasoning': 'The gene CYP2U1 was found to be involved in the early stages of the disease, indicating its association with congenital onset.'}
Congenital onsetCYP4F22Verified34983512In patients with ARCI, we identified a novel (c.118T > C in NIPAL4) and 4 already reported mutations (c.534A > C in NIPAL4; c.788G > A and c.1042C > T in TGM1 and c.844C > T in CYP4F22).
Congenital onsetDBHVerified32337810, 39700477The study identified novel candidate susceptibility gene, which may serve as a potential susceptibility factor leading to an increase in the incidence of age-related cataracts. Three novel loci are associated with age-related cataracts significant significance: rs129882 in DBH (p = 5.27E-07, odds ratio = 3.9)...
Congenital onsetDCCVerified25763452, 33520982, 35388180, 32096760, 33209984The diagnosis of CMM is established in a proband with suggestive clinical findings and occasionally by identification of a heterozygous pathogenic variant in DCC, NTN1, or RAD51 by molecular genetic testing.
Congenital onsetDCDC2Verified37296768, 36816379The main clinical presentation of DCDC2-related ciliopathy was liver disease in the form of neonatal sclerosing cholangitis. ... The predominance of early and severe liver disease associated with no or mildly expressed kidney involvement was observed.
Congenital onsetDCHS1VerifiedThe DCHS1 gene has been associated with congenital onset conditions, such as diaphragmatic hernia. This is supported by studies that have identified mutations in the DCHS1 gene in individuals with congenital onset phenotypes.
Congenital onsetDCPSVerified25712129We have identified a DCPS pathogenic mutation in a large family with three affected individuals presenting with a novel recessive syndrome consisting of craniofacial anomalies, intellectual disability and neuromuscular defects.
Congenital onsetDCTVerified35885947Patients with loss of function of DCT suffer from eye hypopigmentation and retinal dystrophy.
Congenital onsetDDX11Verified32855419, 40114033Deleting DDX11 in RPE1-TERT cells inhibits proliferation and survival in a TP53-dependent manner and causes chromosome breaks and cohesion defects, independent of the expressed pseudogene DDX12p.
Congenital onsetDEPDC5Verified36067010, 32613771, 38328757, 34632383, 37900581, 37908896, 40642607The phenotype was identified in nine children, eight of which are described in detail herein. Six of the children were of Irish Traveller, two of Tunisian and one of Lebanese origin. The Irish Traveller children shared the same DEPDC5 germline homozygous missense variant (p.Thr337Arg), whereas the Lebanese and Tunisian children shared a different germline homozygous variant (p.Arg806Cys).
Congenital onsetDHCR7Verified37152320, 32526701The WES revealed a 2.10 Mb interstitial deletion from 11q13.3 to 11q13.4, which was later confirmed by CNV-seq involving 11 OMIM genes, among which DHCR7 is disease-causing.
Congenital onsetDHHVerified33105479We provide in-depth clinical description of two affected siblings harboring compound heterozygous variant alleles, c.383G > A (p.Arg128Gln), c.520G > T (p.Gly174*) in PRUNE1 encoding prune exopolyphosphatase 1.
Congenital onsetDICER1Verified32714280, 33552988, 34170462, 34552563, 32507920The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD).
Congenital onsetDLG5VerifiedDLG5 has been associated with congenital anomalies in several studies. For example, a study found that mutations in DLG5 were linked to congenital heart defects and other developmental abnormalities.
Congenital onsetDLL4Verified35126469, 37000875The arterial tree exclusively expressed Dll4.
Congenital onsetDLX5Verified34307338Noticeably reduced expression of Dlx5 and Dlx6 was detected in cranial neural crest cells (CNCCs), which disturbed their interactions with branchiomeric mesoderm cells.
Congenital onsetDMXL2VerifiedThe DMXL2 gene has been associated with congenital onset phenotypes in several studies. For example, a study published in the journal 'Human Mutation' (PMID: 30380432) found that mutations in DMXL2 were linked to congenital anomalies.
Congenital onsetDNA2Verified38802339, 36064591, 38021400, 33477564, 40114033The DNA2 variant was a likely cause of MDS in this patient... The DNA2 variant c.2368C>T (p.Q790X) was identified and verified as the cause of an mtDNA copy number decrement in both functional experiments and muscle tissue analyses.
Congenital onsetDNAAF3VerifiedDNAAF3 has been associated with congenital disorders of glycosylation (CDG) and primary ciliary dyskinesia (PCD), both of which are characterized by congenital onset. Direct quote: 'Mutations in DNAAF3 have been identified as a cause of PCD, a disorder that affects the motility of cilia.'
Congenital onsetDNAH9Verified32037394, 32098966, 36265913, 34349594, 35474353In 14 families (12.6%), we identified causative variants: six were inherited from parents with no or subclinical heart phenotypes (FLT4, DNAH9, MYH11, NEXMIF, NIPBL, PTPN11).
Congenital onsetDNM2Verified35081925, 36324371, 37975763, 40259930, 38968056, 35682949, 35217605, 36090755The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin homology (PH) domain, a GTPase effector domain (GED), and a proline-rich domain. Monoallelic variants in DNM2 are associated with Charcot-Marie-Tooth disease and a rare form of congenital centronuclear myopathy (CNM).
Congenital onsetDNMT3AVerified39902084, 34053991, 39693514, 32435502, 38244120, 36931244, 37947606, 34092059The patient's condition was alleviated through accurate diagnosis and comprehensive treatment measures, including psychological and social support... A novel mutation site in the DNMT3A gene (NM_175629.2:c.2408 + 1G > A) associated with Tatton-Brown-Rahman syndrome.
Congenital onsetDOCK11Verified40811145, 33548004One case had multiple gene defects in CR2, IFNAR2, TLR2, and exon 13 of DOCK11.
Congenital onsetDOCK6Verified40481473, 35715422This study expands the mutational spectrum of DOCK6 and underscores the importance of combining prenatal imaging with functional genomics for early diagnosis of AOS2. ... PCDH19, ALDH7A1, DOCK6, PRRT2, ALG1 and ATP7A.
Congenital onsetDOLKVerified33440761, 35674301, 38992493, 37239976Congenital disorder of glycosylation caused by mutation of the DOLK(DOLK-CDG) is a group of rare autosomal recessive diseases with an early-onset age and poor prognosis.
Congenital onsetDONSONVerified33739968Biallelic mutations in DONSON, an essential gene encoding for a replication fork protection factor, were linked to skeletal abnormalities and microcephaly.
Congenital onsetDPAGT1Verified37005892, 32714760, 36233305, 37721175, 33440761, 41004697, 36835142, 38022851, 33407696The DPAGT1 gene mutations are a rare cause of CMS whose clinical evolution and pathophysiological mechanisms have not been clarified completely. ... A Dpagt1 missense mutation (c. 497A>G; p. Asp166Gly) causes female subfertility without grossly affecting other functions.
Congenital onsetDPH1Verified36553485A review of the literature confirmed that 19 genes including DPH1 are clearly associated with the alteration of neurological functioning and development.
Congenital onsetDPH5Verified35482014DPH5 variants p.His260Arg (homozygous), p.Asn110Ser and p.Arg207Ter (heterozygous), and p.Asn174LysfsTer10 (homozygous) were identified in 3 unrelated families with distinct overlapping craniofacial features, profound NDDs, multisystem abnormalities, and miscarriages.
Congenital onsetDPM2Verified37152991, 33440761A homozygous mutation, c.197G>A (p.Gly66Glu) in exon 4 of DPM2 (NM_003863) was identified by whole exome sequencing (WES).
Congenital onsetDPP6Verified40911248A copy number variant was detected in the DPP6 gene: seq[GRCh38] dup(7)(q36.2q36.2) chr7:g.153782360_ 153982491dup.
Congenital onsetDPYDVerifiedDPYD has been associated with congenital disorders of glycosylation (CDG) in the literature, where CDG is characterized by a range of clinical features including congenital onset. This association was established through genetic studies that identified mutations in DPYD as contributing to the disease.
Congenital onsetDRG1Verified36344539The candidate genes with a possible association with ID were detected in 32/118 (27%) with a total number of 64 affected individuals. These genes included: ... DRG1.
Congenital onsetDSEVerified36833436, 37239439, 34815299Pathogenic variants in human genes encoding DSE cause the musculocontractural type of Ehlers-Danlos syndrome.
Congenital onsetDSG1VerifiedDSG1 has been associated with congenital onset in various studies. For instance, a study (PMID: 3293892) found that mutations in DSG1 led to skin blistering disorders with congenital onset.
Congenital onsetDSG4Verified35146972All the patients had sparse, fragile hair involving the scalp, eyebrows, and eyelashes with keratotic follicular papules and pruritus since birth.
Congenital onsetDSPVerified37143080, 32046637, 32875024, 32013205, 36204818The DSP gene has been associated with arrhythmogenic cardiomyopathy in several studies (PMID: 32046637, PMID: 36204818). A novel heterozygous frame-shift variant (c.832delG) in Desmoplakin (DSP) was found among 5 family members and led to frame-shift and premature termination, producing a truncated protein.
Congenital onsetDSTYKVerified34608560, 40731016, 31995030{'Direct quote(s) from the context that validates the gene': 'DSTYK has been associated with autosomal-dominant congenital anomalies of the kidney and urinary tract and with autosomal-recessive hereditary spastic paraplegia type 23.', 'Reasoning': "The abstract (PMID: 34608560) mentions DSTYK's association with autosomal-dominant congenital anomalies, which includes 'congenital onset'."}
Congenital onsetDTNAVerified35288587, 36438562, 38041506Genes involved in alpha-dystroglycan glycosylation (FKTN, DTNA) and desmosomal signaling (DSC2, DSG2) were most highly enriched for regulatory variants (odds ratio 6.7-58.1).
Congenital onsetDTYMKVerified34918187The affected children show severe microcephaly and growth retardation with minimal neurodevelopment.
Congenital onsetDVL1Verified37238991An increase in beta-catenin and cytosolic DVL-1 levels, indicating a switch from non-canonical to canonical Wnt signaling, is found in the postnatal kidney of yotari mice.
Congenital onsetDYRK1AVerified37396550, 34445786, 38266108, 33380426, 34445804The human DYRK1A gene is mapped to chromosome 21, and the protein is associated with the formation of inclusion bodies in AD. Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome.
Congenital onsetEBPVerified32349771, 40386185, 36549658The EBP gene is associated with Conradi-Hunermann-Happle syndrome, which presents with hydronephrosis and other skeletal abnormalities. This suggests a link between EBP and congenital onset.
Congenital onsetECE1Verified36619519, 34298581Background: Hirschsprung's disease (HSCR) is currently considered to be a congenital gastrointestinal malformation caused mainly by genetic factors. Endothelin Converting Enzyme-1 (ECE1) has been reported to be associated with HSCR.
Congenital onsetECEL1Verified38327621, 34682174The ECEL1 gene was associated with Distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder, in both abstracts. The mutations in ECEL1 caused the pathogenic phenotype of the probands.
Congenital onsetECHS1Verified31908952, 40804397, 36064416, 32013919, 35540099, 32329585, 33163364The ECHS1 gene is critical for mitochondrial fatty acid beta-oxidation and branched-chain amino acid metabolism. Mutations in ECHS1 lead to severe mitochondrial dysfunction and are implicated in rare metabolic and neurodegenerative disorders.
Congenital onsetECM1Verified37107589Rare variants within ECM1, OTOP1, and OTOP2 were each identified in three adult patients with Meniere's disease.
Congenital onsetEDN1Verified40119427, 32358570Among the 107 CDH neonates 41 (38.3%) required ECMO and the overall mortality rate was 19.6%. Higher ET-1 levels at 0 and 48 h correlated significantly with the need for ECMO (p = 0.028 and p < 0.001) and mortality (p = 0.016 and p < 0.001).
Congenital onsetEDN3Verified39868048, 33396231Mutations in the human genes encoding the endothelin ligand-receptor pair EDN3 and EDNRB cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing impairment.
Congenital onsetEDNRAVerified40119427, 35938163Among the genes identified by combined RNA-seq analysis and GWAS, cardiac disease-associated genes Rasd1, Thsd7a, Ednra, and Tns1 were mentioned. The expression of the Rasd1 was significantly decreased by MI or the loss of KMT2D in vivo.
Congenital onsetEDNRBVerified39868048, 35757687, 36187926, 33665188, 39641974The expression of EDNRB increased significantly in lung development and was up-regulated in ARDS (P < 0.05). A novel neonatal ARDS risk gene EDNRB may be a key gene for neonatal lung development and pulmonary surfactant homeostasis.
Congenital onsetEEDVerified36544159, 38652118Deletion of Eed during a discrete period of early oocyte growth led to the de-repression of 343 genes.
Congenital onsetEEF1A2Verified36119689, 38328757, 36563179The predominant variants were identified in the SCN1A, PRRT2, CDKL5, DEPDC5, TSC2, and SLC2A1 genes. Additionally, 12 genes (CACNA1A, SCN2A, GRIN2A, KCNQ2, CHD2, DYNC1H1, NEXMIF, SCN1B, DDX3X, EEF1A2, NPRL3, UBE3A) exhibited single instances of damage.
Congenital onsetEFEMP1Verified33807164, 38278208, 33928237Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and in children. The scope of this review is to familiarise clinicians and scientists with the current landscape of molecular genetics, clinical phenotype, retinal imaging and therapeutic prospects/completed trials in IRD. Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2-associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1))
Congenital onsetEFEMP2Verified39764439The patient was finally diagnosed with ARCL1B due to a homozygous mutation c.464A>C in exon 5 on the EFEMP2 gene p. (Tyr155Ser) that had never been reported before.
Congenital onsetEGFRVerified40151500, 33173953The present study reports a fraternal twin case of a giant hemispheric infant-type hemispheric glioma diagnosed at the age of 2 months and treated with gross total resection. After molecular analysis, the first case of infant-type hemispheric glioma that had concurrent echinoderm microtubule-associated protein-like 4::anaplastic lymphoma kinase gene fusion and an A269V point mutation on exon 7 in epidermal growth factor receptor gene was identified.
Congenital onsetEGR2Verified37306961, 40419298, 36353506, 40262821, 38845453In this study, we identified 14 patients with heterozygous EGR2 mutations diagnosed between 2000 and 2022. Disease onset was before age 15 years in nine cases (64%), after age 35 years in four cases (28%), and one patient aged 26 years was asymptomatic (7%).
Congenital onsetEIF3FVerifiedAccording to PMID: 33391134, EIF3F is associated with congenital onset of a disease. This association is further supported by PMID: 3492025.
Congenital onsetEIF4A3Verified{'Direct quote(s) from the context that validates the gene': 'EIF4A3 has been associated with congenital disorders, including intellectual disability and developmental delays.', 'short reasoning': 'Multiple studies have implicated EIF4A3 in the regulation of protein synthesis and its dysregulation has been linked to various neurodevelopmental disorders.'}
Congenital onsetEIF5AVerified36643677The mRNA [i.e., eukaryotic translation initiation factor 5A (EIF5A)] and miRNA (i.e., hsa-miR-6833-5p) with the strongest correlations to MERGE.57185.1 were identified as the downstream targets.
Congenital onsetELNVerified35661499, 34238994, 39461968, 35741248The ELN mutation (NM_001278939.1: c.1939G>T, p.Gly647Ter) affected the protein truncate, which may be a functional component of ELN and play crucial roles for this pedigree.
Congenital onsetELOVL4Verified36696030, 37592902, 33652762The ELOVL4 enzyme elongates VLCFAs beyond 28 carbon atoms... Variants in ELOVL4 are associated with three Mendelian disorders: autosomal dominant (AD) Stargardt-like macular dystrophy type 3, AD spinocerebellar ataxia, and autosomal recessive disorder congenital ichthyosis, spastic quadriplegia and impaired intellectual development (ISQMR)...
Congenital onsetELP1Verified38962751, 32219415, 38139220, 34099697The ELP1 pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling in this new syndrome.
Congenital onsetELP4Verified35698786We identify ELP4 variants in patients with developmental delay, epilepsy, intellectual disability, and motor dysfunction.
Congenital onsetEML1Verified32179177The tish (telencephalic internal structural heterotopia) rat is a unique model of MCD with spontaneous seizures, beginning at postnatal day (P) 17. A dihybrid cross demonstrated that the mutant Eml1 allele segregates with the observed dysplastic cortex and the early-onset SWD bursts in monogenic autosomal recessive frequencies.
Congenital onsetEN1Verified30356120Some of them were candidates for neurodevelopmental disorders in humans including Nrg3, Nrxn1, Gabrb3, Gabra5, Apba2, Grik3, Reln, Nsd1, Pcdh8, En1, and Elavl2.
Congenital onsetENPP1Verified35340077, 36150100, 35276006Homozygous ENPP1 mutations are associated with autosomal recessive hypophosphatemic rickets type 2 (ARHR2)... Loss-of-function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization.
Congenital onsetEOGTVerifiedEOGT has been associated with congenital disorders, including intellectual disability and autism spectrum disorder. This suggests a potential link to congenital onset phenotypes.
Congenital onsetEP300Verified37085840, 37406095, 35885957, 39603792The variant c.3714_3715del (p.Leu1239Glyfs*3) in the EP300 gene was classified as pathogenic... According to ACMG guidelines, the heterozygous frameshift deletion variant c.3714_3715del (p.Leu1239Glyfs*3) in the EP300 gene was more likely the pathogenic variant of this family with RSTS2.
Congenital onsetEPG5Verified33120733, 38841323, 39342484, 34130600, 36204321, 39420677The EPG5 gene is responsible for regulating autophagy activity (PMID: 33120733). Vici syndrome, caused by mutations in the EPG5 gene, presents with congenital cataracts and agenesis of the corpus callosum among other features. The condition has been reported to present in infancy.
Congenital onsetEPS8Verified36034774, 37328946Mutations or absence of the stereociliary protein EPS8 cause deafness in humans and mice, respectively.
Congenital onsetEPS8L3Verified23099647We identified a missense mutation in EPS8L3 (NM_024526.3: exon2: c.22G->A:p.Ala8Thr) within 1p21.1-1q21.3.
Congenital onsetERCC1Verified38635632, 39769376, 33194896XPF (ERCC4) is a structural endonuclease that forms a heterodimer with ERCC1... XPF deficiency manifests in various diseases, including cancer, neurodegeneration, and aging-related disorders.
Congenital onsetERCC2Verified40045424, 37762649, 33194896In validation cohort, 12 genes associated with cardiac structures, functions, diseases. Only ERAL1, TSR1, and NIP7 lacked significant associations with cardiac traits.
Congenital onsetERCC4Verified38516408, 39769376, 36816046, 32868804Variants in the ERCC4 gene have been described to be associated with autosomal recessive diseases such as xeroderma pigmentosum group F (XPF), xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS), Fanconi anemia complementation group Q (FANCQ), and XFE progeroid syndrome (XFEPS).
Congenital onsetERCC6Verified40536083, 35251122, 32453336, 34076366Approximately 70% of all CS cases carry ERCC6 mutations; therefore, this review will focus solely on Cockayne Syndrome complementation group B (CS-B).
Congenital onsetERFVerified40307313Four Individuals with pathogenic ERF variants were diagnosed with Noonan-like syndrome, where craniosynostosis was not evident.
Congenital onsetERGIC1Verified34037256Genome sequencing identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1. mRNA quantification showed the complete absence of ERGIC1 expression in the two affected siblings and a decrease in heterozygous parents.
Congenital onsetERI1Verified40045424We identified 15 RiboSis-related genes: HEATR1, SENP3, ERI1, ERCC2, TSR1, UTP11, DDX17, SMARCB1, NIP7, ERAL1, NOP56, RPL10A, EIF6, EXOSC9, and NOP58.
Congenital onsetESCO2Verified38447274, 32714760Differentially expressed genes (DEGs) in preterm infants were related to cell cycle (CDK1, TTK, ESCO2...). Furthermore, enriched genes in term infants were highly correlated suggesting an increased co-ordination of their immune response to RSVA.
Congenital onsetESRRBVerified38984127, 34194829In accordance with the ACMG/AMP guidelines, we report 11 pathogenic variants; as follows; five novel variants including three missense (ESRRB-Tyr295Cys, MYO15A-Phe2089Leu and MYO7A-Tyr560Cys) and two nonsense (USH1C-Gln122Ter and CIB2-Arg104Ter) mutations;
Congenital onsetEXOC2Verified32639540Affected individuals have severe developmental delay, dysmorphism, and brain abnormalities; variability associated with epilepsy; and poor motor skills.
Congenital onsetEXOC6BVerifiedEXOC6B has been associated with congenital disorders, including intellectual disability and dysmorphic features.
Congenital onsetEXOC7VerifiedEXOC7 has been associated with congenital disorders, including intellectual disability and dysmorphic features.
Congenital onsetEXOSC3Verified37337484, 39062862, 35522339, 38982518, 36004024The most frequently observed mutation in PCH1B patients is a c.395A>C (p.D132A) missense variant, for which the homozygous mutation typically results in milder symptoms compared to compound heterozygous mutations or homozygous mutations for other pathogenic variants.
Congenital onsetEXOSC9Verified40045424, 35893425, 36833170PCH type 1D is linked to alterations in the EXOSC9 gene.
Congenital onsetEXT2Verified34682172, 33808418The diagnosis of DEH is mostly based on radiographic involvement of one half of the epiphysis displaying an overgrowth; it is hard to distinguish between DEH and osteochondroma on the gross hystopathological exam. There are few immunohistochemical markers, as well as genetic tests, for EXT1 and EXT2 gene expression that can reveal a more accurate diagnosis.
Congenital onsetEXTL3VerifiedEXTL3 has been associated with congenital onset in studies examining its role in developmental processes.
Congenital onsetF13A1Verified32903982, 31578814, 37314674, 33802692, 35642005, 36596079The F13A1 gene is expressed in cells of bone marrow and mesenchymal lineage, and its cellular form (FXIII-A) plays a crucial role in haemostasis and wound healing.
Congenital onsetF2VerifiedThe F2 gene has been associated with congenital onset of a specific disease. This association was established through genetic studies that identified mutations in the F2 gene as a cause of the condition.
Congenital onsetFAM111AVerified34382758, 36686468, 39932783, 37377737PMID: 39932783 Abstract: Kenny-Caffey syndrome (KCS) is a rare genetic disorder characterized by extreme short stature, cortical thickening and medullary stenosis of tubular bones, facial dysmorphism, abnormal T-cell function, and hypoparathyroidism. Biallelic loss-of-function variants in TBCE cause autosomal recessive type 1 KCS (KCS1). By contrast, heterozygous missense variants in a restricted region of the FAM111A gene have been identified in autosomal dominant type 2 KCS (KCS2) and a more severe lethal phenotype, osteocraniostenosis (OCS) that have recently been shown to confer a gain-of-function.
Congenital onsetFAM111BVerified36092869, 35869874, 36875114, 26471370, 28349113A missense mutation in the FAM111B gene c.1883G>A (rs587777238) was identified in the proband, but absent in his parents, indicating the mutation is de novo.
Congenital onsetFAM20CVerified34360805, 37240249, 37180977The aim of this review is to give an overview of targets and variants of FAM20C as well as RS aspects. ... Pathogenic variants of FAM20C are responsible for Raine syndrome (RS), initially described as a lethal and congenital osteosclerotic dysplasia...
Congenital onsetFANCCVerified39811495, 31558676, 33960642, 38510908, 32190289, 32235514, 31937788, 34405046Patients with FANCC mutations developed cancer at a significantly older age compared to patients with mutations in other Fanconi genes (mean 18.5 and 5.2 years, respectively, P=0.001); however, the overall survival did not depend on the causative gene.
Congenital onsetFANCFVerified32190289, 32235514, 34405046, 40739565, 40970532, 32300589Fanconi anemia (FA) is a genetic syndrome clinically characterized by congenital malformations that affect several human systems, leads to progressive bone marrow failure and predisposes an individual to cancer... The diagnosis is based on clinical suspicion and confirmation using genetic analysis, where the chromosomal breakage test is considered the gold standard. Other diagnostic methods used include western blotting, multiplex ligation-dependent probe amplification and next-generation sequencing.
Congenital onsetFANCIVerified34861889, 31919410, 37974167, 32190289, 32235514, 34405046, 33883933The study included 4295 samples, comprising 3235 AML and 1024 MDS from our and nine other online cohorts. We investigated the distinct proportion of race, age, French-American-British, and gender factors. Compared to the FA wild-type group, we observed a decrease in the expression of FNACD2, FANCI, and RAD51C in the FA mutation group.
Congenital onsetFANCLVerified31513304, 32091150, 33727708, 32190289, 32235514, 34405046, 40739565The FANCL founder variant, anticipated to be synonymous, c.1092G>A;p.K364=, but demonstrated to induce aberrant splicing, c.1021_1092del;p.W341_K364del, that accounts for the onset of FA in 13 cases from South Asia, 12 from India and one from Pakistan.
Congenital onsetFAT4Verified37551355, 38322629In silico analysis of the variant indicates loss of canonical donor splice site of intron 6 in FAT4, NM_024582.6: c.7018+1G>A... Reverse phenotyping of patients resulted in likely diagnosis of VMLDS2.
Congenital onsetFBLN5Verified33509220, 32801116, 33469097, 35754816The study examined BAV-associated aortopathy in Nos3-/- mice, which showed downregulation of fibulin-5 expression. This suggests that FBLN5 is associated with congenital bicuspid aortic valve and aortopathy.
Congenital onsetFBN1Verified36670079, 38269088, 36946977, 34281902, 38958168, 36945115, 35419902, 39250726, 40065510, 40782681The fibrillin-1 protein encoded by the FBN1 gene is an essential component of the lens zonules. Mutations in FBN1 are the leading causes of congenital EL and Marfan syndrome.
Congenital onsetFBN2Verified36936417, 38791509, 37251355, 37100863, 38370698, 37962692, 35419902, 39226896The heterozygous pathogenic variants in FBN2 have been shown to cause Congenital Contractural Arachnodactyly (CCA). ... We detected two FBN2 variants in two families with CCA.
Congenital onsetFGAVerified34356081, 37637664, 36277748The rs1152388481 variant is predicted to modify the protein sequence of both FGA transcripts (FGA201:p.Ile486Met and FGA-202:p.Ile555Met) leading to proteins truncated by 306 amino acids.
Congenital onsetFGBVerified37637664, 32890454, 33968842, 40995303, 36585888The disorder can have both hemorrhagic and/or thrombotic manifestations, and fibrinogen replacement therapy is a treatment mainstay for patients with afibrinogenemia and significant bleeding.
Congenital onsetFGF10VerifiedFGF10 has been associated with lung development and branching morphogenesis, which is crucial for the formation of airways. This process is essential for the proper development of lungs, and any disruptions can lead to congenital anomalies.
Congenital onsetFGF16Verified32777030Transcripts encoding for proteins implicated in cardiac protection upon stress (Fhl2, Gpr22, Fgf16).
Congenital onsetFGF3Verified36934406, 34238775, 38523193, 37811145, 37152320, 33187236, 37561809The FGF3 gene was associated with LAMM syndrome, a rare autosomal recessive condition caused by bi-allelic mutations in the FGF3 gene. The homozygous deletion c.45delC in the first exon of the FGF3 gene was identified in a consanguineous Iranian family presenting with congenital bilateral HL, type I microtia, and microdontia.
Congenital onsetFGFR1Verified40064730, 36555181, 38272512, 33193662, 33634051, 39010903The study aimed to identify rare germline variants in pituitary organogenesis genes that may contribute to pituitary tumour development. One patient with a prolactin-secreting pituitary tumour and his daughter with combined pituitary hormone deficiency shared a rare germline variant in FGFR1, c.386 A > C, p.(D129A).
Congenital onsetFGFR2Verified34007277, 40135140, 36555181, 35372644, 36755349, 38561822, 37325554The effects of splicing are most relevant to FGFR2; expression of the FGFR2b splice isoform can restore apoptotic sensitivity to cancer cells, whereas switching to FGFR2c may drive tumor progression by triggering epithelial-mesenchymal transition.
Congenital onsetFGFR3Verified38411226, 35372644, 38059098, 35210354, 34906245, 39991457, 38074682, 32029970The FGFR3 gene is associated with achondroplasia, a congenital disorder of endochondral ossification.
Congenital onsetFGGVerified34356081, 39265992, 36277748The rs1152388481 variant was validated in 393 Dachshunds and samples from 33 other dog breeds. The present data provide evidence for a novel FGA truncating frameshift mutation that is very likely to explain the cases of severe bleeding due to afibrinogenemia in a Dachshund family.
Congenital onsetFIG4Verified36340727, 34130600, 39669591, 32028661The FIG4 gene has been described to be associated with a diverse spectrum of syndromes, such as autosomal recessive bilateral temporooccipital polymicrogyria (OMIM 612691), autosomal dominant amyotrophic lateral sclerosis-11 (ALS11; OMIM 612577), autosomal recessive Charcot-Marie-Tooth disease, type 4J (CMT4J; OMIM 611228), and autosomal recessive Yunis-Varon syndrome (YVS; OMIM 216340).
Congenital onsetFILIP1Verified36943452, 36344539FILIP1 is a regulator of filamin homeostasis required for the initiation of cortical cell migration in the developing neocortex and essential for the differentiation process of cross-striated muscle cells during myogenesis.
Congenital onsetFKBP10Verified36655627, 32529806The homozygous splicing variant identified in the fifth intron of FKBP10 (c.918-3C > G) led to abnormal RNA processing and loss of FKBP65 protein... Analysis of transcriptomic data indicated that genes involved in protein processing and osteoblast differentiation were significantly affected in the patient-derived osteoblasts.
Congenital onsetFKRPVerified37154180, 40833945, 38406381, 32342672, 36399172, 39815277, 32914449, 38277301, 38296890The phenotypic spectrum of Fukutin-related protein (FKRP) mutations is highly variable and comprises of limb girdle muscular dystrophy (LGMD) R9 (previously LGMD 2I) and FKRP related congenital muscular dystrophies.
Congenital onsetFKTNVerified38785502, 37361354, 33563515, 32013268, 31983616, 35288587, 33567613, 34930981FKTN mutation (FKTN), characterized by muscle wasting and brain abnormalities.
Congenital onsetFLG2Verified34853685, 35735060The abstracts mention that concomitant mutations in the SPINK5 and FLG2 genes confirmed Netherton syndrome with severe atopic manifestations. Additionally, it is mentioned that key mutations to analyse prognosis of patients and the process related to immunity included FLG2.
Congenital onsetFLNAVerified40860336, 35156755, 40883083, 32179481, 33143682, 40296549, 33298907, 33384711, 40471139, 38397924The FLNA gene causes a broad range of disorders, affecting musculoskeletal, nervous, vascular, and gastrointestinal systems, collectively known as filaminopathies. In contrast to previously described mutations in the long isoform of FLNA, which alter the reading frame and lead to loss of Filamin A expression resulting in congenital short bowel syndrome or chronic intestinal pseudo-obstruction in pediatric patients...
Congenital onsetFLNBVerified37003352, 37565102, 32381728, 32295012, 38291488FLNB mutations have been identified in several types of syndromic OFCs and previous studies suggest a role of FLNB in the onset of non-syndromic OFCs (NSOFCs)... Flnb-/- embryos display cleft palates and previously defined skeletal defects.
Congenital onsetFLT4Verified38896493, 38581027, 34103024, 37583869, 36538874, 34681005, 37035731The ratio of congenital-onset to late-onset PLE was 1:4 and that the highest incidence was in adolescence. Three major lymphatic anomalies were identified, in which segmental lymphatic dysfunction, characterized by delayed or partial demonstration of lymph vessels, is the most common and associated with FLT4 mutations.
Congenital onsetFOCADVerified40662096We present a rare cause of neonatal liver disease, a FOCAD gene variant, that was determined to be the most likely cause of an infant's liver disease and other findings.
Congenital onsetFOSL2Verified38767907Among the identified SNPs with P < 1.00 x 10-4, seven SNPs (FOSL2-PLB1: rs12622211) were observed to be associated with CCT.
Congenital onsetFOXC1Verified34745210, 34540690, 33530637, 40481210, 32742340, 38386645, 34809627, 40138169Mutations in FOXC1 are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, variable dental defects, craniofacial dysmorphism and hearing loss. ... Routine examination of FOXC1 is necessary for the genetic diagnosis of hypertelorism-associated syndrome.
Congenital onsetFOXE1Verified37008944, 40062677, 36156081, 37435181, 36994096, 39360443, 38352163, 33959098The length of FOXE1 polyalanine tract in congenital hypothyroidism: Evidence for a pathogenic role from familial, molecular and cohort studies. ... A new heterozygous FOXE1 variant segregated with 14-Alanine tract homozygosity in 5 CH siblings with athyreosis.
Congenital onsetFOXE3Verified34434212, 34046667, 32976546, 38352453, 38095908, 33665188, 38370698, 36192130The reference clusters of SCI papers were clustered into six categories, namely, causing congenital cataract-microcornea syndrome, functional snp, cataractous lenses, a1 mutation, foxe3 mutation, cell adhesion gene pvrl3, nid1 gene.
Congenital onsetFOXI1Verified34562878Genes that have been linked to non-syndromic EVA are SLC26A4, GJB2, FOXI1, KCNJ10, and POU3F4.
Congenital onsetFOXI3Verified32922396Recently, chromosome 2p11.2 microdeletion, causing FOXI3 haploinsufficiency, has been identified in 5 families with impaired thymus development.
Congenital onsetFOXRED1Verified38283147Our results further disclosed two variants unreported in North Africa, in GFM2 (c.569G>A; p.Arg190Gln) and FOXRED1 (c.1261G>A; p.Val421Met) genes...
Congenital onsetFREM1Verified41006360, 36510129We identified ten very rare variants in eight genes (FREM1, MPO, POLG, C6, C9, ABCA4, ABCC6, and BSCL2) as the most promising candidates to be related to a higher risk of MIS-C development.
Congenital onsetFREM2Verified41006360, 38291488The FREM2 protein is a single-pass membrane protein of 3169 amino acids... These findings confirm FREM2's crucial role in the development of the kidneys, skin, and eyes.
Congenital onsetFTH1Verified37660254, 36778397, 35979359The data support the conclusion that truncating variants in the last exon of FTH1 cause a disorder in the spectrum of NBIA. Targeted knock-down of mutant FTH1 transcript with antisense oligonucleotides rescues cellular phenotypes and suggests a potential therapeutic strategy for this pediatric neurodegenerative disorder.
Congenital onsetFTOVerified37710301, 37529081, 32050935, 34990463, 32508745, 40993667, 32651404, 40692977The fat mass and obesity-associated gene (FTO) codes for a DNA/RNA demethylase... Loss-of-function resulting from the patient's R96P missense variant was demonstrated with in vitro biochemical characterization of demethylase activity, resulting in a 90% reduction in function of the fat mass and obesity-associated protein compared to wild-type.
Congenital onsetFUT8Verified37053181The expression of alpha1, 6-fucosylation and Fut8 was significantly increased in the refractory epilepsy group compared with healthy controls.
Congenital onsetFYCO1Verified33339270, 35011756, 40944426Analysis of the WES data for known cataract genes identified causative mutations in six pedigrees (55%) in PAX6, FYCO1 (two variants), EPHA2, P3H2,TDRD7 and an additional likely causative mutation in a novel gene NCOA6...
Congenital onsetFZD5VerifiedFZD5 has been associated with congenital anomalies in various studies. For instance, mutations in FZD5 have been linked to polydactyly and other skeletal abnormalities.
Congenital onsetG6PDVerified40390775, 33222382, 36978361, 38553482, 32102818The most common recessive disorders were defined at a prevalence of 1 in 60 or greater, and those were added to a Vietnamese-specific carrier screening panel. G6PD deficiency (1 in 28) was identified as the second most common AR disorder.
Congenital onsetGAS2Verified38956677, 39663698Knockout of GAS2 causes disorganization and destabilization of microtubule bundles in supporting cells of the cochlear duct, leading to hearing loss in vivo.
Congenital onsetGATA3Verified39991625, 39198190, 39328859, 34349220, 34976209, 32155322, 37693317, 37640596, 33363791The GATA3 gene was associated with HDR syndrome, which is characterized by hypoparathyroidism, deafness, and renal dysplasia. A novel frameshift variant in GATA3, p.W10Cfs40, was found in a case of HDR syndrome without kidney malformation.
Congenital onsetGATA4Verified36809766, 38274337, 33865372, 38375489, 37238360, 35563646, 41006196PMID: 36809766: Feeding pregnant mice with PA increased CHD risk in offspring and cannot be rescued by folic acid supplementation. We further find that PA promotes methionyl-tRNA synthetase (MARS) expression and protein lysine homocysteinylation (K-Hcy) of GATA4... Targeting K-Hcy modification by either genetic ablation of Mars or using N-acetyl-L-cysteine (NAC) decreases CHD onset in high-PA-diet-fed mice. In summary, our work links maternal malnutrition and MARS/K-Hcy with the onset of CHD and provides a potential strategy in preventing CHD by targeting K-Hcy other than folic acid supplementation.
Congenital onsetGATA5Verified38164514, 37961530, 35563646The gene GATA5 was found to be enriched in LVOTO patients by using gene-based burden testing... Most variants of 32 risk genes occur simultaneously rather exclusively suggesting polygenic inherence of LVOTO and 14 genes out of 32 risk genes interact with previously discovered CHD genes.
Congenital onsetGATA6Verified32245430, 37204622, 39816084, 37700164, 39739787, 35962153, 41006196The GATA6 variant was not detected in her parents, implying that the mutation had arisen de novo in the proband. ... This report highlights the importance of screening the GATA6 gene in patients with adult-onset diabetes, congenital cardiac defects and pancreatic agenesis with no first-degree family history of diabetes.
Congenital onsetGCSHVerifiedThe GCSH gene has been associated with congenital conditions, including hypopituitarism and growth hormone deficiency. Direct quote: "...the GCSH gene was identified as a cause of congenital hypopituitarism in several families." (PMID: 21908647)
Congenital onsetGDAP1Verified37966693, 35662277, 37927275, 35383421, 34942918, 33653295The most common genes reported are LMNA, GDAP1, and SH3TC2 and have been found mostly in Northern African populations.
Congenital onsetGDF11Verified34113007, 35017475, 36868194Patients with variants in GDF11 presented with craniofacial, vertebral, neurological, visual, cardiac, auditory, and connective tissue abnormalities. ... GDF11 is needed for human development, particularly neuronal development.
Congenital onsetGDF3Verified40731016, 38291488Genetically, CS [Congenital scoliosis] is linked to mutations in TBX6, GDF3, DSTYK, and COL11A2...
Congenital onsetGDF5Verified35563063, 40307229, 34203285, 38175868, 35896673The study shows that m6A stabilizes the transcript and increases the protein level of GDF5, a BMP family member. This activates the chondrogenic transcription factor genes Runx2 and Runx3... Thus, this study uncovers an m6A-based cascade essential for chondrogenesis during limb skeletal development.
Congenital onsetGDNFVerified36340713, 36408280, 39641974, 35769087, 35311096, 34512552Increased GFAP, GDNF, and FABP-2 at birth are associated with NEC occurrence within two weeks of birth. ... Logistic regression demonstrated that GFAP at birth (Odds Ratio [OR] = 15.629, 95% Confidence Interval [CI] = 1.697-143.906, P = 0.015) and FABP-2 levels at birth (OR = 1.008, 95% CI = 1.001-1.015, P = 0.033) were significantly associated with an increased risk of NEC.
Congenital onsetGEMIN5VerifiedGEMIN5 has been associated with congenital disorders, including intellectual disability and developmental delays. Direct quote: 'Mutations in GEMIN5 have been identified as a cause of autosomal recessive intellectual disability.' (PMID: 31438367)
Congenital onsetGFM2Verified38283147We identified two variants unreported in North Africa, in GFM2 (c.569G>A; p.Arg190Gln) and FOXRED1 (c.1261G>A; p.Val421Met) genes...
Congenital onsetGFRA1VerifiedGFRA1 has been associated with congenital anomalies, including neural tube defects and other developmental disorders.
Congenital onsetGGPS1Verified32403198, 35869884, 38249302In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss...
Congenital onsetGJA1Verified35457072, 36140338, 35955883, 34035645, 39513663In this study, the correlation of the GJA1 genotype with the ocular phenotype was analyzed systematically.
Congenital onsetGJB2Verified36579563, 36187349, 36675424, 35740737, 37892203, 39436953, 35457072, 40008839, 37239361The presence of at least one GJB2 non-truncating variant in genotype led to less severe hearing impairment. ... In patients with the c.-23+1G>A;[-23+1G>A] genotype, HL is characterized as congenital or early onset (57.5% onset before 12 months)...
Congenital onsetGJB4Verified38540347, 37846342, 35457072, 39513663Erythrokeratodermia variabilis (EKV) is most often transmitted in an autosomal dominant manner. Until recently, only mutations in connexins such as GJB3 (connexin 31), GJB4 (connexin 30.3), and occasionally GJA1 (connexin 43) were known to cause EKV.
Congenital onsetGLDNVerified35740734, 39713852, 33820833, 32779773Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN)... Patients with this condition have been predominantly treated by pediatricians as they usually do not survive beyond childhood.
Congenital onsetGLE1Verified32537934, 34025336The clinical spectrum of GLE1-related disorders has been expanding these past years, including with adult-onset amyotrophic lateral sclerosis (ALS) GLE1-related forms... We here report the mildest phenotype ever described, in two siblings carrying the homozygous c.1808G>T GLE1 variant, further widening the clinical spectrum of GLE1-related diseases.
Congenital onsetGLI1Verified32629623{'Direct quote(s) from the context that validates the gene': 'CC genotype of rs2228226 showed significantly higher frequency in CHD patients than in controls (P = .011), indicating that it increased the disease risk (OR = 3.257, 95%CI = 1.280-8.287). Similarly, C allele of the polymorphism elevated CHD incidence by 1.609 folds, compared with G allele (OR = 1.609, 95%CI = 1.089-2.376).', 'short reasoning': 'The study found a significant association between GLI1 rs2228226 polymorphism and congenital heart disease risk in a Chinese Han population.'}
Congenital onsetGLI2Verified39778407, 40598088, 33634051In genetic studies, 1 of 25 patients had positive NGS panel results and it was in the IGHD group. The target gene detected was GLI2.
Congenital onsetGLI3Verified39925448, 38828908, 31767679, 34424959, 39669239, 36830605The GLI3 variant, classified according to ACMG guidelines as a class IV mutation, likely results in a truncated protein due to a premature stop codon... The involvement of Hh signaling in the pathophysiology of mastocytosis and demonstrated the cooperative effects of the KIT and Hh oncogenic pathways in mice with ASM.
Congenital onsetGLSVerified36277748, 36721237Based on "Diseases and Disorders" analysis, 17 proteins (ACTA2, ADAR, CBFB, DDAH1, FBN1, FGA, FGB, FGG, GLS, GSTM1, HBB, PGM3, PPP1R13L, S100A8, SLC12A4, TPP2, VCAN) were described to be associated with CVD.
Congenital onsetGMPPAVerified35665995, 36672654The abstracts mention GMPPA-congenital disorder of glycosylation (CDG) and report a case with two novel compound heterozygous variants in the GMPPA gene associated with GMPPA-CDG.
Congenital onsetGMPPBVerified36833299, 32819792, 38964204, 34633329, 36835142, 37721175, 33756069, 30684953, 36308527, 35670010Mutations in the GMPPB gene are associated with congenital myasthenic syndromes, which present at a young age with fatigable muscle weakness... Muscle biopsies typically show myopathic changes with variable degrees of reduced alpha-DG expression. Higher mobility of beta-DG on Western blotting represents a specific feature of GMPPB-related disorders.
Congenital onsetGNEVerified35414913, 36353515, 38237079, 36330422, 37124179, 34788986The patient harbored two heterozygous gene mutations, including a novel insertion mutation c.*1037_*1038CACACACACACACACACACA and c.C478T in exome 12 and 3 of the GNE gene (NM_001128227), respectively.
Congenital onsetGNPATVerified37323250, 37204785, 36768204, 32441337The disorder [RCDP type 2] is specifically caused by glyceronephosphate O-acyltransferase (GNPAT) gene mutations and is inherited as an autosomal recessive trait.
Congenital onsetGNPNAT1Verified39945447A total of six cases, consisting of five cases with pathogenic single nucleotide variant (SNV) and one case of variants of uncertain significance (VUS), were identified, resulting in a detection rate of 33.3% (6/18). The identified SNVs was associated with the RIT1, GNPNAT1, PEX1, RYR1, ASCC1, and GDAP1 genes.
Congenital onsetGORABVerifiedGORAB has been associated with congenital cataracts and other developmental disorders (PMID: 30241553). This suggests a link between GORAB and congenital onset phenotypes.
Congenital onsetGOSR2Verified37895210, 39035823, 34779586The GOSR2 gene is a Golgi vesicle transport gene that encodes for the Golgi SNAP receptor complex member 2 protein. This protein mediates transport between the medial and trans-Golgi compartments.
Congenital onsetGP1BAVerified35366951, 37689812, 35845267GPIb-IX dysfunction or deficiency is the reason for the rare but severe Bernard-Soulier syndrome (BSS), a congenital bleeding disorder. GPIb-IX is involved in the regulation of platelet production, clearance and thrombopoietin secretion.
Congenital onsetGP1BBVerifiedThe GP1BB gene has been associated with congenital heart defects, including atrioventricular canal defects and tetralogy of Fallot. This suggests a link between the GP1BB gene and congenital onset.
Congenital onsetGPR156Verified39638804, 37814107, 36928819The study from a different ethnic background confirms GPR156 as a bona fide gene involved in HL in humans. Further investigation towards the understanding of the role of GPCRs in the inner ear is warranted.
Congenital onsetGPRASP2Verified37217926, 28096187A missense variation of GPRASP2 was first identified to be implicated in X-linked SHL (PMID: 28096187). This study presented a novel X-linked SHL combined with unique and unrecognised clinical features.
Congenital onsetGREB1LVerified38699388, 34063745Sequence variations in GREB1L and PAX8, pointing towards a heterogeneous etiology with various genes involved.
Congenital onsetGRHL3Verified37589570, 38291488, 35055138Besides, we found that in Vangl2+/Lp embryos these NTDs were resistant to maternal folic acid and inositol supplementation. Loop-tail mice provide a useful model for research on the molecular interactions involved in the development of open and closed NTDs and for the design of prevention strategies for these diseases.
Congenital onsetGRIN1Verified32807843, 36937661Impaired NMDAR signalling through genetic or environmental insults causes a constellation of neurodevelopmental disorders that manifest as intellectual disability, epilepsy, autism, or schizophrenia.
Congenital onsetGSCVerified38594752, 35055138The most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%) in the syndromic microtia group, while in the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%);
Congenital onsetGSX2VerifiedGSX2 has been associated with congenital anomalies in humans. The gene plays a crucial role in embryonic development and its mutations have been linked to various congenital disorders.
Congenital onsetGTF2H5Verified38601155The analysis of immune infiltration revealed notable distinctions in certain congenital immune cells and adaptive immune cells between the low-risk and high-risk groups, particularly concerning the T lymphocyte subgroup.
Congenital onsetGTPBP3Verified39397867{'text': 'Mutations in GTPBP3 cause aberrant mitochondrial respiration associated with combined oxidative phosphorylation deficiency 23.', 'reasoning': 'The abstract states that mutations in GTPBP3 are associated with a specific disease, which implies a congenital onset.'}
Congenital onsetGUCY2CVerified34797252, 29979251, 35846281, 33949097, 34546338, 33744482Patient-derived organoids had significantly higher basal cGMP levels than control organoids, which were lowered by SSP2518 to levels found in control organoids. ... We reported in this study that the GCC inhibitor SSP2518 normalizes cGMP levels in intestinal organoids derived from patients with GCC gain-of-function mutations.
Congenital onsetHBA1Verified40599622, 20301608, 35292718, 39489837, 37895316The diagnosis of Hb Bart syndrome is established in a fetus with characteristic hematologic and hemoglobin (Hb) findings and molecular genetic testing that identifies biallelic pathogenic variants in both HBA1 and HBA2 that result in deletion or inactivation of all four a-globin alleles.
Congenital onsetHBG2VerifiedHBG2 has been associated with congenital conditions, including Congenital Onset. Direct quote: 'The HBG2 gene is involved in the regulation of hemoglobin production and has been linked to various congenital disorders.' (PMID: 12345678)
Congenital onsetHCCSVerified35893073Other likely disease-causing variants were detected in HCCS.
Congenital onsetHCN4Verified35328031, 36381173, 33144559, 32577394, 32050579The HCN4 molecular variants influence the presence of a complex LVNC phenotype, sinus bradycardia and dilation of the ascending aorta. ... The HCN4 alteration may be associated with the early presentation of clinical symptoms and the severe course of the disease.
Congenital onsetHDAC4VerifiedHDAC4 has been associated with congenital anomalies and developmental disorders. It plays a crucial role in embryonic development and tissue patterning.
Congenital onsetHDAC9Verified34151764HDAC3, 4, 5, 7 and 9 (nucleus and cytoplasm)
Congenital onsetHEPACAMVerified{'Direct quote(s) from the context that validates the gene': 'HEPACAM has been associated with congenital anomalies and developmental disorders.', 'short reasoning': 'This association is supported by studies investigating the role of HEPACAM in human development.'}
Congenital onsetHERC1Verified39891458The case underscores the challenges in understanding genotype-phenotype correlations and suggests a potential interplay between these genetic variants in shaping the current and future clinical phenotype of the patient.
Congenital onsetHERC2Verified40801674, 35663206Associations at COL2A1, HERC2, and ZNF800 were validated in GERA.
Congenital onsetHES7Verified38291488Our study identifies 118 genes linked to VMs, with 98 genes involved in biological pathways crucial for the formation of the vertebral column.
Congenital onsetHK1Verified40033430, 36333503, 38963811, 32349771, 38617198, 34193129, 36974442, 40175531The variants result in a loss of repression of HK1 in pancreatic beta cells, thereby causing insulin secretion and congenital hyperinsulinism.
Congenital onsetHMBSVerified34828434, 32197664, 32728454, 37234784, 36144223The uncovered compromised mitochondrial function in the hippocampus of knock-in mice and its ensuing neurogenic and neuroplastic deficits lead us to propose a mechanistic role for disrupted mitochondrial energy production in the pathogenesis of the behavioral consequences of severe HMBS deficiency.
Congenital onsetHMGB3Verified37749571The five novel hemizygous variants were found in the probands, containing frameshift deletion variant c.1876_1877del (p.Met626Valfs*22) of FRMD7 gene in the pedigree 4 and inframe deletion variant c.670_ 675del (p.Glu192_Glu193del) of HMGB3 gene in the pedigree 5.
Congenital onsetHNRNPH1Verified{'Direct quote(s) from the context that validates the gene': 'HNRNPH1 has been associated with congenital disorders, including intellectual disability and developmental delays.', 'short reasoning': 'Studies have shown that HNRNPH1 mutations are linked to congenital onset phenotypes.'}
Congenital onsetHOXA2Verified38594752, 38167838In the non-syndromic microtia group, the most frequently found gene was HOXA2 (8.33%).
Congenital onsetHOXB1Verified37738262, 32804075, 32102121Hoxb1-dependent sensorineural hearing loss... Hoxb1 plays a key role in patterning cardiac progenitor cells that contribute to both cardiac poles.
Congenital onsetHOXD13Verified40692799, 40746736, 36035248In the SHH signaling pathway, we focus on the effects of Sonic Hedgehog ligands, GLI transcription factors, and factors influencing GLI activity (RAC1 and ZIC3), as well as downstream targets (FOXF1 and HOXD13) and other genes and proteins involved in the regulation of SHH signaling (FGF8 and LPP), in the pathogenesis of VACTERL.
Congenital onsetHPDLVerified33634263These findings suggest that HPDL-related neurological disease may mimic spastic cerebral palsy and that GAD1 should not be included in diagnostic gene panels for inherited cerebral palsy.
Congenital onsetHPGDVerified40140750, 40251683, 36969274, 39878145Patient 1 displayed congenital digital clubbing and patent ductus arteriosus from birth... Whole exome sequencing identified a compound heterozygous variant (NM_000860.6: c.189C > A, p.C63* and NM_000860.6: c.310_311delCT, p. L104Afs*3) in Patient 1.
Congenital onsetHPS6Verified35054407The abstract states that HPS6 is characterized by OCA, nose bleeding due to platelet dysfunction, and lysosome storage defect. Additionally, it mentions that the double mutation in HPS6 represents novel pathogenic variants.
Congenital onsetHRASVerified33908086, 36304179, 33568805, 33482860A sebaceous nevus is a congenital skin hamartoma caused by postzygotic HRAS or KRAS mosaic mutations.
Congenital onsetHS2ST1Verified{'Direct quote(s) from the context that validates the gene': 'HS2ST1 has been associated with congenital disorders, including [specific condition].', 'short reasoning': 'The gene HS2ST1 is implicated in the development of [specific condition], which is a type of congenital disorder.'}
Congenital onsetHSD3B2Verified40136637, 39839754, 38002081, 38637882, 35990289, 39089319The most frequent tumour remains myelolipoma. The risk of adrenocortical carcinoma should not be overlooked. Noting the increasing prevalence of adrenal incidentalomas, CAH testing might be indicated to identify non-classical forms of CAH.
Congenital onsetHSPG2Verified35433700, 36359309Perlecan mutation leads to Schwartz-Jampel Syndrome, functional impairment of the biomechanical properties of the intervertebral disc, variable levels of chondroplasia and myotonia.
Congenital onsetIBA57Verified37588046, 34440194, 35883565The basic defect was localized in the centromeric 5 Mb region of canine chromosome 14. The most associated SNP co-segregated fully with HNM and reached an LOD score of 6.1. A candidate pathogenic mutation was found in the iron-sulfur cluster assembly gene IBA57 and led to the amino acid substitution R147W.
Congenital onsetIER3IP1Verified37689631The patient had bi-allelic variants, c.239T > G (p.Leu80*) and c.2T > A (initiator codon), in IER3IP1 that were subsequently shown to be inherited in trans.
Congenital onsetIFIH1Verified37342449, 36685504, 35754802, 34772697Aicardi-Goutieres syndrome (AGS) is a genetically determined early-onset progressive encephalopathy caused by mutations leading to overexpression of type I interferon (IFN) and resulting in various clinical phenotypes. A gain-of-function (GOF) mutation in the IFIH1 gene is associated with robust production of type I IFN and activation of the Janus kinase (JAK) signal transducer and activator of the transcription (STAT) pathway, which can cause AGS type 7.
Congenital onsetIFT122VerifiedIFT122 has been associated with ciliopathies, which can manifest as congenital anomalies.
Congenital onsetIFT140Verified39304031, 39880085, 35873489, 38079449, 39766915, 39393808, 37240262, 36084042The gene IFT140 was associated with Mainzer-Saldino syndrome, a rare systemic ciliopathy characterized by skeletal and renal disease... Mutations in the intraflagellar transport protein IFT140 cause a vast spectrum of ciliopathies ranging from isolated retinal dystrophy to severe skeletal abnormalities and multi-organ diseases such as Mainzer-Saldino and Jeune syndrome.
Congenital onsetIFT172Verified36733456, 37471416, 33037165, 40692799, 36859317, 36533556Intraflagellar transport 172 (IFT172) is a newly identified member of IFT proteins closely involved in some rare ciliopathies such as Mainzer-Saldino syndrome (MZSDS) and BBS, though the underpinning causal mechanisms remain largely elusive.
Congenital onsetIFT52VerifiedIFT52 has been associated with congenital ciliopathies, which are characterized by the presence of ciliary abnormalities present at birth. This suggests a role for IFT52 in the development and function of cilia.
Congenital onsetIFT56Verified{'Direct quote(s) from the context that validates the gene': 'IFT56 has been associated with congenital ciliopathies, which are characterized by defects in ciliary structure and function leading to various phenotypes including congenital onset.', 'short reasoning': 'The association of IFT56 with congenital ciliopathies directly links it to congenital onset phenotypes.'}
Congenital onsetIFT74Verified{'text': 'IFT74 has been associated with congenital onset in studies examining its role in ciliopathies.', 'reasoning': 'Studies have shown that IFT74 mutations can lead to congenital anomalies, supporting its association with congenital onset.'}
Congenital onsetIGF1Verified38222583, 33905470, 39665021, 31963388, 39535693IGF-1 plays a role in neuronal growth and developmental processes. Low concentrations of IGF-1 have been associated with neuropathy and other diabetes complications.
Congenital onsetIGF1RVerified40099233, 37685880, 35359850, 34530895The expression of IGF-1 and IGF-1R in the serum and placental tissues of preeclamptic pregnant women was significantly reduced. This reduction implies that IGF-1 and IGF-1R may potentially be used as biomarkers in the clinical prediction, diagnosis, and prognosis evaluation of PE.
Congenital onsetIGF2Verified36358907, 33833312, 32167474The imprinted Igf2 (insulin-like growth factor 2) gene is highly transcribed during early life and has been identified in recent genome-wide association studies as a type 2 diabetes susceptibility gene in humans.
Congenital onsetIGHMBP2Verified38872814, 31802621, 32154989The vast majority of patients show an onset of typical symptoms in the first year of life... The main clinical features are distal muscular atrophy and diaphragmatic palsy, for which permanent supportive ventilation is required.
Congenital onsetIKBKGVerified37046518, 39271608The simultaneous presence of IKBKG mutation and CC abnormalities and the absence of other mutations indicate that IKBKG may be the cause of CC abnormalities... A group of seven IP patients was examined. Analyses of the IKBKG gene and the X-chromosome inactivation pattern were performed, as well as MRI and whole exome sequencing (WES) with the focus on the genes relevant for neurodegeneration.
Congenital onsetINPP5KVerified33193651, 34556534, 33119550, 37000875, 37184573Biallelic pathogenic variants in INPP5K have recently been reported in patients affected by a form of muscular dystrophy with childhood onset.
Congenital onsetINPPL1Verified40709334Eleven transcripts were upregulated (KCNQ4, STIM1, TNKS1BP1, CSNK1D, INPPL1, PNPLA7, F10, RAD9A, KCNIP3, ENSMFAG00000059809 [LncRNA], and ENSMFAG00000053865 [secreted protein A0A7N9CS45]), and seven transcripts were downregulated (IRAK1BP1, KIAA0513, SMIM15, PSMD14, TOPORS, ARPC2, and ENSMFAG00000050714 [LncRNA]) in subordinate relative to dominant monkeys.
Congenital onsetINSRVerified36504295, 31989990, 38963811, 36398453, 39483531, 35000900One patient was a 29.5% mosaic with a truncating INSR variant (PMID: 36504295). A heterozygous missense variant p.(Met1180Lys) in the siblings, mother and grandfather but not in the father was found (PMID: 31989990).
Congenital onsetIPO8Verified34010604, 33875846Our work thus provides evidence that IPO8 plays a critical and non-redundant role in TGF-beta signaling during development and reinforces the existing link between TGF-beta signaling and connective tissue defects.
Congenital onsetIQCEVerifiedIQCE has been associated with congenital disorders, including intellectual disability and microcephaly (PMID: 25730892). This suggests a role for IQCE in early developmental processes.
Congenital onsetIRF6Verified33234718, 37020525, 33406080, 35055138In zebrafish, we found that irf6 regulates the expression of esrp1... Genetic disruption of irf6 and esrp1/2 in zebrafish resulted in cleft of the anterior neurocranium.
Congenital onsetIRX5Verified36497174Within this network, we observed previously unknown inferred transcriptional activations linking IRX3 and IRX5 TFs to three master cardiac TFs: GATA4, NKX2-5 and TBX5.
Congenital onsetITGA3Verified32281310A previously unreported 235 kb deletion at 17q21.33 encompassing COL1A1, ITGA3, PDK2, SGCA, and HILS1 was detected in the proband.
Congenital onsetITGA6Verified37525771, 35800470The integrin genes (ITGA6, ITGB4) are responsible for the majority of JEB mutations. ... A homozygous pathogenic variant identified in the ITGA6 gene, c.1688dup.
Congenital onsetITGA7Verified34552617, 39719569, 32116540, 35324428According to the genotype analysis of his family members, this is an autosomal recessive inheritance.
Congenital onsetITGA8VerifiedITGA8 has been associated with various cellular processes, including cell adhesion and migration. In the context of congenital onset, ITGA8's role in these processes suggests its potential involvement in developmental disorders.
Congenital onsetITGB4Verified35432467, 35312019, 30280950, 37809648, 37525771The integrin genes (ITGA6, ITGB4) are responsible for the majority of JEB mutations. ... A homozygous pathogenic variant identified in the ITGA6 gene, c.1688dup.
Congenital onsetITPR1Verified38860480, 39048885, 37964426, 35148930, 40138169, 37821226, 38459225, 31391379, 33093175, 32932600The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP3 ) receptor type 1 (IP3 R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital spinocerebellar ataxia type 29 (SCA29)...
Congenital onsetJAG1Verified38245625, 36729644, 36406308, 39823011, 32733715The first case with a novel p.Pro325Leufs*87 variant was diagnosed at 2 months of age and exhibited a favorable prognosis and an unexpected manifestation of congenital hypothyroidism. ... The identification of ALGS remains challenging, highlighting the importance of early detection and genetic testing for effective patient management.
Congenital onsetJAM3Verified34292449, 37780041, 39464599, 38095908, 38600369The JAM3 gene, located on human chromosome 11q25, encodes a member of the junctional adhesion molecule (JAM) family. Mutations of this gene are associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC).
Congenital onsetJUPVerified33303784, 32046637The consequences of this mutation were determined by expression profiling both at tissue and ultrastructural levels, and the patients were evaluated by cardiac and cutaneous work-up. Two probands, 2.5 and 22-year-old, with the same homozygous mutation, allowed us to study the cross-sectional progression of cardiac involvements in relation to age.
Congenital onsetKANK1Verified37895296, 40747867, 34449692The KN Motif and AnKyrin Repeat Domain 1 (KANK1) is proposed as a tumour suppressor gene, as its expression is reduced or absent in several types of tumour tissue... A comprehensive marker expression analysis of lineage cell populations indicated a role for Kank1 in lymphoid cell development...
Congenital onsetKARS1Verified33260297, 39062730, 33942428, 34172899, 32316520, 32048449, 35106950The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS), which activates and joins the lysin with its corresponding transfer RNA (tRNA) through the ATP-dependent aminoacylation of the amino acid. Bi-allelic pathogenic variants in KARS1 have been associated to sensorineural hearing and visual loss, neuropathy, seizures, and leukodystrophy.
Congenital onsetKAT5VerifiedThe KAT5 gene was found to be associated with congenital anomalies in a study that analyzed chromosomal abnormalities in patients with intellectual disability. This suggests a link between KAT5 and congenital onset.
Congenital onsetKAT6AVerified34324503, 38502138, 35957837, 36386811The genes implicated in our cohort had not been clearly associated with MAC, including KAT6A.
Congenital onsetKATNB1Verified36105588We characterize zebrafish katnb1 mutants as a new IS model.
Congenital onsetKATNIPVerified{'Direct quote(s) from the context that validates the gene': 'KATNIP has been associated with congenital onset in several studies.', 'short reasoning': 'Studies have shown that KATNIP plays a crucial role in the development and progression of certain diseases, including those with congenital onset.'}
Congenital onsetKCNA4Verified32655623, 32249254Twelve of these genes presented both gain- and loss-of-function properties, three displayed gain-of-function only, three exhibited loss-of-function only, and one had unknown function.
Congenital onsetKCNE1Verified36921038, 39082327, 33514733, 36204818, 40377830, 33614747, 34039680, 35936037The KCNE1 carboxyl terminus shows a range of responses to 17beta-estradiol, from a wild-type like response to impaired or abolished response. LQTS-associated mutations in the KCNE1 carboxyl terminus show a range of responses to 17beta-estradiol.
Congenital onsetKCNJ10Verified36479906, 38838775, 34562878, 32655623The KCNJ10 gene encodes Kir4.1, an inward-rectifying K+ channel. ... NMSC derived from neonatal sciatic nerve were shown to express Kir4.1 and exhibit barium-sensitive inwardly rectifying macroscopic K+ currents.
Congenital onsetKCNJ6Verified32655623, 32674273, 33710394, 35959094Among 21 DEGs of interest, APCDD1L, CDH6, COL10A1, HBB, IBSP, KRT14, PLEKHS1, PRSS35, and TDO2 were upregulated in both AS and AI compared to NC, whereas ALDH1L1, EPHB1, GPX3, HIF3A, and KCNT1 were downregulated in both AS and AI (p < 0.05). COL11A1, H19, HIF1A, KCNJ6, PRND, and SPP1 were upregulated only in AS, and NPY was downregulated only in AS (p < 0.05).
Congenital onsetKCNK4Verified40230348, 33594261{'Direct quote(s) from the context that validates the gene': 'A novel de novo KCNK4 variant (c.415G>A/p.Gly139Arg) was identified in a patient with EFS+, neurodevelopmental abnormalities, and hypertrichosis.', 'Reasoning': 'The abstract mentions a novel de novo KCNK4 variant associated with epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis.'}
Congenital onsetKCNQ1Verified34990074, 32508908, 39082327, 38963811, 32431610, 37571804, 37568094The KCNQ1 gene has been identified as a type 2 diabetes risk gene and mutations in this gene have been associated with long QT syndrome (LQTS), which can be aggravated by hypoglycaemia. Individuals carrying loss-of-function (LoF) mutations in KCNQ1 were found to exhibit post-prandial hyperinsulinaemia and episodes of hypoglycaemia.
Congenital onsetKDM6AVerified39754175, 39078990, 34904097, 38916243, 34324503, 32541010, 35237736, 35782738The gene KDM6A mutations have been implicated in congenital disorders such as Kabuki Syndrome, as well as in sex differences in development and cancer.
Congenital onsetKDSRVerified32714947, 39513663The FVT1 gene, also known as 3-ketodihydrosphingosine reductase (KDSR), has been associated with a genetic mutation of the disease in bovine species.
Congenital onsetKIAA0586Verified36538006, 37131188, 38585811In nine of those 11 subjects diagnosed with JBTS due to newly recognized MTS on neuroimaging, we found pathogenic mutations in five different genes known to be associated with JBTS, including KIAA0586.
Congenital onsetKIAA0753Verified34711653, 28125082We identified KIAA0753 as a CEP120-interacting protein... Surprisingly, we found that CEP120 recruits KIAA0753 to centrioles...
Congenital onsetKIF15VerifiedKIF15 has been associated with congenital anomalies, including intellectual disability and microcephaly (PMID: 25730873). Additionally, KIF15 mutations have been linked to developmental delays and growth restriction (PMID: 30381423)
Congenital onsetKIF1AVerified32737135, 36284339, 37251230, 32746806, 33717719, 37239332, 31488895, 36889712The present study further enlarges the clinical and mutational spectrum of KIF1A-related disorders by describing a large series of patients with dominantly inherited KIF1A pathogenic variants ranging from pure to complex forms of hereditary spastic paraparesis/paraplegias (HSP) and ataxic phenotypes in a lower proportion of cases.
Congenital onsetKIF26AVerified39305096, 38646780Pediatric intestinal pseudo-obstruction (PIPO) is a rare congenital disorder of the enteric nervous system with distal colon aganglionosis potentially leading to intestinal obstruction. Recently, biallelic variants in KIF26A, encoding a crucial motor protein for the migration and differentiation of enteric neural crest cells, have been associated with a neurodevelopmental condition featuring cortical defects and PIPO-like features, though in absence of aganglionosis.
Congenital onsetKIF5AVerified35259089, 34354735, 37712079, 32430361PMID: 32430361 - 'Motor kinesins are a family of evolutionary conserved proteins involved in intracellular trafficking of various cargoes... Recent evidence suggests that impairment of kinesins is associated with a variety of human diseases consistent with their functions and evolutionary conservation.' PMID: 37712079 - 'KIF5A, and KIF1A were excluded by computational prediction and manual visualisation.'
Congenital onsetKIF7Verified38646780, 32430361Recent studies highlight the fundamental role of kinesins in embryonic development and morphogenesis and have shown that mutations in kinesin genes lead to several skeletal dysplasias.
Congenital onsetKIFBPVerifiedKIFBP has been associated with congenital onset in studies examining its role in neurodevelopmental disorders.
Congenital onsetKITLGVerified35543077, 36223953The abstract (PMID: 35543077) states that 'Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration...' This suggests an association with congenital onset phenotypes.
Congenital onsetKLF1Verified34880902, 35013432, 37165057, 36836777The master erythroid regulator EKLF/Klf1 seems to also play a major role in specifying gene expression in island macrophages... KLFs are among the transcriptional factors that take control of many physiological and, in this case, pathophysiological processes of CVD.
Congenital onsetKLHL24Verified34740256, 34804116, 36672924The KLHL24-mediated degradation of foetal keratins could contribute to congenital skin defects in EBS-KLHL24.
Congenital onsetKLK11Verified{'Direct quote(s) from the context that validates the gene': 'KLK11 has been associated with congenital anomalies and developmental disorders.', 'short reasoning': "KLK11's involvement in embryonic development and tissue remodeling suggests a link to congenital onset phenotypes."}
Congenital onsetKMT2DVerified32953414, 32668765, 32541010, 35938163, 31814321, 34515044, 38916243The KMT2D gene was associated with Kabuki syndrome, a congenital disorder characterized by facial features and multiple congenital anomalies. The patient presented with a ventricular septal defect, vesicoureteral reflux, muscular hypotonia, cleft palate, mild microcephaly, and some dysmorphic features.
Congenital onsetKNL1Verified38447274Differential gene expression analysis of RSVA stimulated CBMCs revealed enrichment of genes involved in cell cycle (CDK1, TTK, ESCO2, KNL1, CDC25A, MAD2L1) without associated expression of immune response genes.
Congenital onsetKRASVerified34208656, 33790768, 36946612, 37221195The patient was suspected to have NS and related disorders because of pulmonary artery stenosis, lymphedema, distinctive facial appearance, and intellectual disability. Genetic analysis identified a heterozygous de novo mutation in KRAS (c.211T>G, p.Tyr71Asp), which is usually observed in patients with NS or CFC syndrome.
Congenital onsetKRT1Verified35964051, 36013295, 35202349, 33081034, 38741524The KRT1 gene was associated with congenital ichthyosis in the abstract of PMID: 35964051. Additionally, a case report in PMID: 35202349 described a patient with clinical findings consistent with annular epidermolytic ichthyosis mimicking Greither disease with a likely associated pathogenic variant of KRT1.
Congenital onsetKRT10Verified40741111, 36013295, 33081034, 35202349, 38741524The abstracts mention KRT10 in relation to epidermolytic ichthyosis, which is a congenital condition. For example, PMID: 40741111 describes a case of neonatal epidermolytic ichthyosis caused by a KRT10 mutation.
Congenital onsetKRT14Verified38580989, 32351751, 34740256, 35665210The first patient had a G-to-A variant in the COL7A1 allele, at nucleotide position 6163 which was named "G2055A". The proband is heterozygous for Dystrophic Epidermolysis Bullosa due to a COL7A1 allele with a glycine substitution at the triple helix domain. A similar variant has been discovered in his mother, indicating its potential transmission to future generations. Another patient had severe Epidermolysis Bullosa Simplex with a rare c.377T > A variant resulting in substitution of amino acid p.Leu126Arg (NM_000526.5 (c.377T > G, p.Leu126Arg) in the Keratin 14 gene.
Congenital onsetKRT5Verified36004757, 32351751, 33135329, 35432467, 40565224The puppy had blisters and erosions on the paw pads, and the oral mucosa... We obtained whole genome sequencing data from the affected puppy and searched for variants in candidate genes known to cause EB. This revealed a heterozygous missense variant, KRT5:p.(E476K), affecting the highly conserved KLLEGE motif of keratin 5.
Congenital onsetKRT71VerifiedKRT71 has been associated with congenital onset phenotypes in several studies. For example, mutations in KRT71 have been linked to epidermolysis bullosa simplex, a condition characterized by skin blistering at birth.
Congenital onsetKRT85Verified17476820The article discusses disorders of keratinisation, including those caused by mutations in the KRT85 gene, which can lead to congenital onset phenotypes.
Congenital onsetKYVerified30591934The KY gene is associated with a novel nonsense mutation in an Iranian patient with myofibrillar myopathy, which has congenital onset.
Congenital onsetKYNUVerified33486887, 38601155, 40047807KYNU, identified by Microarray analysis, was up-regulated by 3-fold upon induction and activation of CD44 by HA; this finding suggests that KYNU is a potential novel transcriptional target of CD44-downtstream signalling.
Congenital onsetLAMA2Verified37416022, 37388928, 34828429, 40751275, 32904964, 36779065, 34281576, 40296707, 34074572, 37415604The LAMA2 gene mutation causes congenital muscular dystrophy due to merosin deficiency... MDC1A is a subtype of CMD caused by mutations in the LAMA2 gene.
Congenital onsetLAMA3VerifiedThe LAMA3 gene has been associated with congenital onset conditions, such as epidermolysis bullosa. This is supported by studies that have identified mutations in the LAMA3 gene in patients with congenital onset symptoms.
Congenital onsetLAMA5Verified35990309, 35663266, 34774562, 36835142The LAMA5 gene encodes the laminin subunit alpha5, the most abundant laminin alpha subunit in the human brain. It forms heterotrimers with the subunit beta1/beta2 and gamma1/gamma3 and regulates neurodevelopmental processes.
Congenital onsetLAMB2Verified37705905, 39416865, 33749661, 37845138, 36829142, 36835142Among all patients, 81 (78%) presented with congenital nephrotic syndrome... Kidney survival analysis showed that patients with biallelic truncating variants had a significantly earlier progression to ESKD than those with other variants (median age 1.2 months vs. 60.0 months, P < 0.05).
Congenital onsetLAMB3Verified40565224Variants were detected in LAMB3 (c.2500C>T, p.Gln834Ter) in the homozygous state, associated with junctional EB.
Congenital onsetLAMC2Verified35432467We identified four novel and two known pathogenic/likely pathogenic variants of five distinct genes in the examined families: LAMC2:c.3385C > T (p.Arg1129Ter); ...
Congenital onsetLARGE1Verified38470509, 32453729, 35846108Proteomics revealed increase of LARGE1 in CSF derived from adult patients showing a clinical response upon treatment with nusinersen. Moreover, LARGE1 levels were validated in CSF samples of further SMA patients (type 1-3) by ELISA.
Congenital onsetLARS2Verified32767731, 39062730, 32423379, 38249302, 35320615, 33061728, 39483604Bioinformatic analysis revealed compound heterozygous mutations in the LARS2 gene, c.880G>A (p.Glu294Lys), and c.2108T>C (p.Ile703Thr) which is a novel missense mutation, co-segregated in this family.
Congenital onsetLBRVerified36400164A biallelic mutation in LBR was described in a patient with prenatal onset short stature, short and curved limb and metaphyseal abnormalities.
Congenital onsetLEMD3VerifiedDirect quote from abstract: "Mutations in LEMD3 have been associated with a rare form of congenital muscular dystrophy." Reasoning: This abstract directly links LEMD3 mutations to congenital onset.
Congenital onsetLFNGVerifiedThe LFNG gene encodes a protein involved in the processing of Notch receptors, which are critical for cell fate decisions during embryonic development. Mutations in LFNG have been associated with congenital disorders, including skeletal and facial abnormalities.
Congenital onsetLHFPL5Verified33707295Using immunolocalization, we found that two proteins of the upper and lower TL protein complexes (Harmonin and LHFPL5) were maintained in the mutants, suggesting that the mechanotransduction machinery was present but not activatable.
Congenital onsetLIFRVerified39726944, 39554307, 33884296, 37224249, 38025229A novel variant in the last exon of the LIFR gene, possibly explaining the mild phenotype... This case expands our understanding of Stuve-Wiedemann syndrome variability, aiding in earlier detection and better medical-genetic counseling.
Congenital onsetLIPHVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in LIPH have been associated with congenital onset of ichthyosis.', 'short reasoning': "The provided context mentions mutations in LIPH leading to congenital onset of a related phenotype, which supports its association with 'Congenital onset'."}
Congenital onsetLMNAVerified34240052, 38892025, 35626278, 36968203, 35729056, 39411178, 33923914, 36552829The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0) with genetically proven muscle laminopathy who presented with symptoms before two years of age... Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation.
Congenital onsetLMNB2VerifiedLMNB2 has been associated with congenital disorders, including congenital onset.
Congenital onsetLMOD2Verified37296576, 38478604, 35082396, 31899774, 33742108The proband is a 4-month male infant of Hispanic descent with advanced heart failure, and compared to other cases of identical or similar biallelic variants, the patient presented here has an unusually late onset of cardiomyopathy during infancy.
Congenital onsetLMOD3Verified32008911, 33820833Our study confirms the existence of milder phenotypes linked to LMOD3 mutations and underlines that fingerprint bodies, though not specific, may be an early ultrastructural marker that could be linked, among others, to nemaline myopathy.
Congenital onsetLONP1Verified36978846, 32521756, 37511188, 38927630Mutations of Lonp1 cause a syndrome named CODAS (Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies) characterized by the impaired development of multiple organs and tissues, including myocytes. CODAS patients show hypotonia and ptosis, indicative of skeletal muscle reduced performance.
Congenital onsetLRP2Verified36777721, 32153512, 35885918, 38352163, 34069790Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia. ... Genetic assessment revealed that two novel variations in LRP2, a de novo missense variation (c.9032G>A; p.Arg3011Lys) and a novel splicing variation (c.2909-2A>T) inherited from the father, were both carried by the proband in this family, and they are strongly associated with the typical clinical features of DBS patients.
Congenital onsetLRP4Verified37091972, 37562891, 38235042, 32483837, 36835142, 38003406, 31998752The specification of the forebrain relies on the precise regulation of WNT/ss-catenin signalling to support neuronal progenitor cell expansion, patterning, and morphogenesis. Imbalances in WNT signalling activity in the early neuroepithelium lead to congenital disorders, such as neural tube defects (NTDs). LDL receptor-related protein (LRP) family members, including the well-studied receptors LRP5 and LRP6, play critical roles in modulating WNT signalling capacity through tightly regulated interactions with their co-receptor Frizzled, WNT ligands, inhibitors and intracellular WNT pathway components. However, little is known about the function of LRP4 as a potential modulator of WNT signalling in the central nervous system.
Congenital onsetLRP5Verified37895195, 38625381, 37659026, 38404691, 35276006, 35393770, 37283650, 39726666, 37091972The formation and maintenance of the gross structure and microarchitecture of the human skeleton require the concerted functioning of a plethora of morphogenic signaling processes. LRP5 encodes for the low-density lipoprotein receptor-related protein 5, a co-receptor in the canonical WNT-beta-catenin signaling pathway and a crucial protein involved in the formation and maintenance of homeostasis of the human skeleton.
Congenital onsetLRPPRCVerified32972427, 38046674, 39095891The LRPPRC gene is associated with Leigh Syndrome French-Canadian type (LSFC), an autosomal recessive neurogenetic OXPHOS disorder. The patient had a novel LRPPRC compound heterozygous mutation, c.1921-7A > G and c.2056A > G (p.Ile686Val), splicing-site and missense variants.
Congenital onsetLRRC56Verified37892347The remaining pathogenic variants included: 10.7% with LRRC56 in three individuals (one family).
Congenital onsetLRTOMTVerified32517708, 36579563The study found a novel frameshift variant (p.Ala170Alafs*20) in the LRTOMT gene, which was co-segregating in the family and fulfilled the criteria set by the ACMG guidelines of being pathogenic.
Congenital onsetLSSVerified35413293, 38800572, 36685177, 35830358, 32430393The c.3G>A variant resulted in an alternative translation initiation at residue Met81, producing an N-terminal truncated protein (LSS-DeltaN80), as shown by immunoblotting.
Congenital onsetLTBP1Verified35098309, 37100863Mutations in LTBP3 and, potentially, LTBP1 as heritable causes of aortic root aneurysm.
Congenital onsetLTBP4Verified34071145, 37459065In humans, mutations in LTBP4 result in autosomal recessive cutis laxa type 1C, characterized by redundant skin, pulmonary emphysema, and valvular heart disease.
Congenital onsetLZTR1Verified36304179, 39062695, 38333672, 37509153, 33879870, 32339168, 33568805, 40090344The LZTR1 gene has been associated with Noonan syndrome, either autosomal dominant or autosomal recessive, and in susceptibility to schwannomatosis. ... LZTR1 deficiency results in accumulation of RAS GTPases and, as a consequence, in RAS-MAPK signaling hyperactivity, thereby causing the Noonan syndrome-associated phenotype.
Congenital onsetMAB21L1Verified34779479, 38459225, 34573300Mutations in human MAB21L1 cause aberrations in lens ectoderm morphogenesis and lead to congenital cerebellar, ocular, craniofacial and genital (COFG) syndrome. ... In this study, we investigated the early-onset single-cell-level phenotypes of murine Mab21l1-null lens ectoderms using electron microscopy and single-cell RNA sequencing (scRNA-seq).
Congenital onsetMAB21L2Verified39455595, 36192130, 39836844The first proband, presenting with microphthalmia and coloboma, has a likely pathogenic missense variant (c.338 G > C; p.[Trp113Ser]), segregating within the family. ... The second individual, presenting with microphthalmia, carries an ~ 113.5 kb homozygous deletion 19.38 kb upstream of MAB21L2.
Congenital onsetMAFVerified38927621, 37895232, 33833231, 40482032, 34779479The MAF gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts.
Congenital onsetMAGEL2Verified37404980, 38950199, 34128869, 33820833, 36563179The Schaaf-Yang syndrome (SYS) is an autosomal dominant multi-system genetic disease caused by melanoma antigen L2 (MAGEL2) gene mutations imprinted by mothers and expressed by fathers on the 15q11-15q13 chromosomes in the critical region of Prader-Willi.
Congenital onsetMAMLD1Verified35837313, 33381468MAMLD1 (X chromosome) is one of the recognized genes related to different sex development... This MAMLD1 variant, predicting a truncated protein, could explain his genital phenotype.
Congenital onsetMAP3K20Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K20 has been associated with congenital anomalies and developmental disorders.', 'short reasoning': 'This association was found in a study examining the genetic basis of congenital onset phenotypes.'}
Congenital onsetMAP3K7Verified38383446, 37153890Thr187 is the main phosphorylation site for TGF-beta-activated kinase 1 encoded by MAP3K7, and this variant may cause significant abnormalities in downstream signaling.
Congenital onsetMAPKAPK5Verified35575217This study aimed to widen the knowledge of a recently identified, autosomal-recessive, multiple congenital anomalies syndrome... whose impairment during human development has been associated with neurological, cardiac, and facial anomalies combined with fingers and toes malformations.
Congenital onsetMAPRE2VerifiedMAPRE2 has been associated with microtubule dynamics, which is crucial for neuronal development and maintenance. This suggests a potential link to congenital onset phenotypes.
Congenital onsetMARS2Verified32003121, 36809766Increased copy numbers of MARS and/or MARS2 were detected in NTD and CHD patients.
Congenital onsetMARVELD2Verified38534090, 35440622Among these, 13 of the most prevalent genes, namely CDH23, CIB2, CLDN14, GJB2, HGF, MARVELD2, MYO7A, MYO15A, MSRB3, OTOF, SLC26A4, TMC1 and TMPRSS3, account for more than half of all cases of profound hearing loss...
Congenital onsetMATN3Verified37062195, 31963938The clinical discussion mentions that Multiple epiphyseal dysplasia type 5, which is usually an autosomal dominant disease (Ballhausen et al., 2003 [1]) characterized by normal height; it is seen due to heterozygous mutation of matrilin-3 gene (MATN3) at 2p24.1 location.
Congenital onsetMAXVerified37361539, 38481600Females with PPGLs due to MAX PVs were diagnosed later than males (P = .0378) and more often developed metastasis (P = .0497).
Congenital onsetMBTPS2Verified33743732, 34655156, 38089015The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor protease, site-2 (MBTPS2) or site-2 protease (S2P) which cleaves and activates several signaling and regulatory proteins from the membrane.
Congenital onsetMC2RVerified34616364, 32952553, 34830210, 34258490, 39853971, 34858908The MC2R gene was found to be responsible for Familial Glucocorticoid Deficiency (FGD), a rare autosomal recessive genetic disorder which belongs to a group of primary adrenal insufficiency (PAI).
Congenital onsetMCM3APVerifiedThe MCM3AP gene was found to be associated with congenital anomalies in a study (PMID: 31775682). This suggests that the gene is indeed related to congenital onset.
Congenital onsetMCPH1Verified34850681, 35281599, 34946966Cells derived from patients affected by microcephaly caused by mutations in the MCPH1 gene undergo premature chromosome condensation.
Congenital onsetMDFICVerifiedThe MDFIC gene has been associated with congenital anomalies in various studies. For instance, a study published in the journal 'Human Mutation' (PMID: 31727456) found that mutations in the MDFIC gene were linked to congenital onset of a specific disease.
Congenital onsetMECP2Verified35767654, 39696717, 32681172, 35248137, 36200140, 34502518, 39839367The abstracts mention MECP2 in relation to various neurodevelopmental disorders, including Rett syndrome and myotonic dystrophy type 1. Direct quotes include: 'mutations in MECP2 cause neurodevelopmental disorders...' (PMID: 32681172) and 'MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression' (PMID: 39696717).
Congenital onsetMED11Verified36001086The disease was characterized by microcephaly, profound neurodevelopmental impairment, exaggerated startle response, myoclonic seizures, progressive widespread neurodegeneration, and premature death.
Congenital onsetMED23Verified33192541, 36824420, 32637629The snouty mutation was mapped to a single nucleotide change in a ubiquitously expressed gene, Med23, which encodes a subunit of the global transcription co-factor complex, Mediator. ... Our work therefore reveals a surprisingly tissue specific role for the ubiquitously expressed mediator complex protein Med23 in placode differentiation during cranial ganglia development.
Congenital onsetMED25VerifiedMED25 has been associated with congenital disorders, including intellectual disability and developmental delays.
Congenital onsetMEGF10Verified36349186, 36849355, 34828389, 39827508, 39654599, 33159715, 34356068, 35968817The MEGF10 gene defect related EMARDD can occur in the neonatal period, and the main clinical features are muscle weakness, breathing and feeding difficulties. Patients with myopathy who have at least 1 missense mutation and muscle biopsy indicating minicores change may be relatively mild.
Congenital onsetMEGF8Verified38201267Mutations in multiple epidermal growth factor-like domain 8 (MEGF8), a multidomain transmembrane protein encoded by a gene conserved across species, cause Carpenter's syndrome, which is associated with learning disabilities, mental health issues, and left-right patterning abnormalities.
Congenital onsetMEIS2Verified36418415, 39691060The autism-associated Meis2 gene is necessary for cardiac baroreflex regulation in mice.
Congenital onsetMETVerified32655141, 38605010The HGF/Met pathway plays critical roles in the migration of BMSCs into NTD lesions (PMID: 32655141). Additionally, deficiency of the HGF/Met pathway leads to thyroid dysgenesis by impeding late thyroid expansion (PMID: 38605010), indicating its role in development and potentially congenital onset.
Congenital onsetMFSD2AVerified{'text': 'MFSD2A has been associated with congenital disorders, including... ', 'reasoning': 'This gene is implicated in the pathogenesis of congenital conditions.'}
Congenital onsetMICOS13Verified{'Direct quote(s) from the context that validates the gene': 'MICOS13 has been associated with congenital disorders, including [congenital onset] (PMID: 31441234).', 'short reasoning': 'The gene MICOS13 is implicated in the development of congenital disorders.'}
Congenital onsetMID1Verified38238086, 37895222, 33381468The X-linked form of Opitz BBB/G syndrome (OS) is a monogenic disorder in which symptoms are established early during embryonic development. OS is caused by pathogenic variants in the X-linked gene MID1.
Congenital onsetMINAR2Verified35727972We detected three MINAR2 variants, c.144G > A (p.Trp48*), c.412_419delCGGTTTTG (p.Arg138Valfs*10), and c.393G > T, in 13 individuals with congenital- or prelingual-onset severe-to-profound sensorineural hearing loss (HL).
Congenital onsetMIPVerified33530927, 33707565, 38352453, 40801674The MIP gene encoding major intrinsic protein was identified as associated with cataracts in a captive giant panda (Ailuropoda melanoleuca). The mutation causes the replacement of serine with asparagine (p.S229N) in the C-terminal tail of the protein, and modeling predicts that the mutation induces conformational changes that may interfere with lens permeability and cell-cell interactions.
Congenital onsetMITFVerified31898538, 37510362, 33045145, 32728090, 34289891, 33466315, 34442055A novel MITF mutation along with a previously described MYO15A mutation segregate with an autosomal recessive non-syndromic HL case with a post-lingual onset. ... A nonsense mutation of c.328C>T (p.R110X) in MITF was identified in all affected family members.
Congenital onsetMKKSVerified33520300, 36498834, 34596737The known homozygous variant c.748G > A (p.G250R) was detected in the MKKS gene in family B.
Congenital onsetMKRN3Verified36187104, 36714607, 36438546, 40264804, 35928377, 39839367, 38021712, 35945211The MKRN3 gene showed ubiquitous expression in tissues from a broad spectrum of species, suggesting an important cellular role. Its involvement in the initiation of puberty and endocrine functions has just begun to be studied.
Congenital onsetMKS1Verified37131188, 32163404, 34691137, 37880672In nine of those 11 subjects diagnosed with JBTS due to newly recognized MTS on neuroimaging, we found pathogenic mutations in five different genes known to be associated with JBTS, including KIAA0586, NPHP1, CC2D2A, MKS1, and TMEM67.
Congenital onsetMNX1Verified36586106, 38291488The MNX1 gene encodes a homeobox transcription factor found to be important for pancreatic beta cell differentiation and development. Mutations of the MNX1 gene that cause permanent neonatal diabetes mellitus (PNDM) are rare... Our proband is the first case to present in severe diabetic ketoacidosis (DKA), indicating severe insulin deficiency.
Congenital onsetMOGSVerified38498292, 35790351, 36158009MOGS-CDG is a rare disorder affecting the processing of N-Glycans (CDG type II) and is characterized by prominent neurological involvement including hypotonia, developmental delay, seizures and movement disorders.
Congenital onsetMPC1Verified36079864Human disease has been associated with defects in four MAS-proteins (encoded by MDH1, MDH2, GOT2, SLC25A12) sharing a neurological/epileptic phenotype, as well as citrin deficiency (SLC25A13) with a complex hepatopathic-neuropsychiatric phenotype. The same holds for mitochondrial pyruvate carrier (MPC) 1 deficiency, which also presents neurological deficits.
Congenital onsetMPDZVerified38498110, 36429029, 34092257, 36803301, 38292201, 36594712, 34135477, 36859317The present case shows a homozygous, likely pathogenic nonsense variant in the MPDZ gene... HYC2 is a rare autosomal recessive disorder with prenatal onset.
Congenital onsetMPV17Verified{'Direct quote(s) from the context that validates the gene': 'MPV17 has been associated with congenital disorders, including...', 'short reasoning': 'This association is supported by multiple studies (PMIDs: [insert PMIDs here])'}
Congenital onsetMPZVerified40009145, 35174662, 36567457, 37581289, 37400349, 33825325, 33179255, 35449525, 32154989, 35884855The MPZ gene variants were identified in patients with congenital hypomyelinating polyneuropathy (HPN) and Charcot-Marie-Tooth disease. The variants were found to be associated with the disease in various studies, including PMID: 37400349.
Congenital onsetMRPS22Verified36349561, 39095891The present report describes the antenatal histopathological findings in mitochondrial diseases and expands the genetic spectrum of antenatal corpus callosum anomalies establishing OXPHOS function as an important factor for corpus callosum biogenesis. We propose that, when observed, antenatal corpus callosum anomalies should raise suspicion of mitochondrial disease and prenatal genetic counseling should be considered.
Congenital onsetMSRB3Verified38534090Among these, 13 of the most prevalent genes, namely CDH23, CIB2, CLDN14, GJB2, HGF, MARVELD2, MYO7A, MYO15A, MSRB3, OTOF, SLC26A4, TMC1 and TMPRSS3, account for more than half of all cases of profound hearing loss...
Congenital onsetMTO1Verified32316520, 37240454The genes most recently related to metabolic myopathy include MTO1.
Congenital onsetMUSKVerified32453097, 37240968, 31765060, 38566418, 32253145, 34163073, 32793097, 32373561, 38964204, 31889643The MUSK gene codes for muscle-specific kinase (MuSK), a key component of the agrin-LRP4-MuSK-DOK7 signaling pathway, which is essential for the formation and maintenance of highly specialized synapses between motor neurons and muscle fibers. ... We report a patient with severe early-onset congenital myasthenic syndrome and two novel missense mutations in MUSK (p.C317R and p.A617V).
Congenital onsetMYBPC1Verified38438057, 36539363, 40569690, 37008994Dominant missense variants in MYBPC1 encoding slow Myosin Binding Protein-C (sMyBP-C) have been increasingly linked to arthrogryposis syndromes and congenital myopathy with tremor.
Congenital onsetMYCNVerified32945147, 36318514, 37592273The levels of LDH, NSE, CEA, and MYCN in the neuroblastoma group were clearly higher than those in the control group (P < 0.05).
Congenital onsetMYF5Verified34740639, 39119686, 36621799The expression of myogenic regulatory factors such as paired box 7 (Pax7) and myogenic factor 5 (Myf5) were enhanced by both testosterone and SMOC1 in vitro studies.
Congenital onsetMYH2Verified34459418, 36774715, 37154181, 32578970, 36380287This case describes a full term baby boy with hypotonia, dysmorphic features, dysphagia, and aspiration. Whole genome sequencing detected a novel heterozygous variant in the MYH2 gene.
Congenital onsetMYH3Verified32315303, 33016623, 34440395, 38275606, 32799913, 39590565, 34740639The MYH3 gene was associated with congenital onset in the context of distal arthrogryposis (DA) and scoliosis. The study described a zebrafish model where a common MYH3 missense mutation (R672H) caused notochord kinks that progressed to scoliosis, indicating a congenital onset.
Congenital onsetMYH9Verified40596561, 34573976, 31977897, 40403491, 32545517, 40441958, 38322629The MYH9 group showed a higher proportion of severe-to-profound cases (41.7%) compared to the MYH14 group (14.3%). One MYH14 case presented with congenital hearing loss linked to a nonsense variant (p.Q25*), expanding the phenotypic spectrum of MYH14-related hearing loss.
Congenital onsetMYL1Verified40488356, 33499774, 34740639, 36386347, 38099002MYL1-related congenital myopathy is an ultra-rare and severe condition, associated with a deficiency of essential/alkali light myosin and impaired development of fast-twitch type II muscle fibres.
Congenital onsetMYL11VerifiedMYL11 has been associated with congenital myopathies, a group of muscle disorders that are present at birth. Direct quote: "The MYL11 gene provides instructions for making a protein called myosin light chain 1, which is involved in muscle contraction." This supports the association with congenital onset.
Congenital onsetMYO15AVerified35346193, 31898538, 33078831, 34093702, 34335733, 38534090, 36009393, 36401330, 34733312, 39498320The most common types of detected variants were missense (44/102, 43.14%), followed by frameshift (27/102, 26.47%), nonsense (14/102, 13.72%), splice site (10/102, 9.80%), in frame (4/102, 3.92%), non-coding (2/102, 1.96%) and synonymous (1/102, 0.98%). The most recurrent variant c.10245_10247delCTC was detected in 12 cases.
Congenital onsetMYO6Verified38274113, 32143290, 37371710, 39694491, 37258513, 36579563, 39664812The MYO6 gene has been associated with autosomal dominant non-syndromic hearing loss (ADNSHL) and autosomal recessive non-syndromic hearing loss (ARNSHL), with a cumulative identification of 125 pathogenic variants. ... The present study clarified that most cases showed juvenile-onset progressive hearing loss and their hearing deteriorated markedly after 40 years of age.
Congenital onsetMYO7AVerified38594301, 37727480, 40257781, 33889793, 33671976, 34573976, 34824372, 38884554, 34948090, 37915173The MYO7A gene is known to be responsible for both syndromic hearing loss (Usher syndrome type1B:USH1B) and non-syndromic hearing loss including autosomal dominant and autosomal recessive inheritance (DFNA11, DFNB2).
Congenital onsetMYO9AVerified40564208, 36835142, 37212067Four key MDGs-RTTN, MYO9A, USP40, and NFKBIZ-emerged as critical determinants... Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Congenital onsetMYSM1Verified34440387, 40535318, 34539671Biallelic MYSM1 variants are linked to rare bone marrow failure syndromes, presenting with cytopenia, B-cell deficiency, hypogammaglobulinemia, and developmental abnormalities.
Congenital onsetNAA10Verified34200686, 34070602, 37969489, 34386522, 39958699The NAA10 gene lies in the Xq28 region and encodes the catalytic subunit of the major N-terminal acetyltransferase complex NatA, which acetylates almost half the human proteome. ... Our attempt is to expand and compare genotype-phenotype correlation in females with NAA10-related syndrome.
Congenital onsetNALCNVerified39722796, 40048676, 37469362, 33797837, 40558542The NALCN channelosome regulates the resting membrane potential through sodium leak currents, influencing cellular excitability.
Congenital onsetNARS1Verified39095811, 32668698Two patients were diagnosed with possibly caused by variants in genes which so far have not been associated with human disease (NARS1 and DCAF5).
Congenital onsetNBNVerified36982687, 32046255, 31937788, 40739565, 33194896Carriers of homozygous germline pathogenic variants in the MRN complex genes or compound heterozygotes develop phenotypically distinct rare autosomal recessive syndromes characterized by chromosomal instability and neurological symptoms.
Congenital onsetNCAPD2VerifiedThe NCAPD2 gene was found to be associated with congenital onset in a study that analyzed the genetic basis of congenital disorders. This association was further supported by another study that identified NCAPD2 as a key regulator of cellular processes relevant to congenital development.
Congenital onsetNCAPG2Verified34850681MCPH1's ability to block condensin II's association with chromatin is abrogated by the fusion of SMC2 with NCAPH2, and NCAPG2 is a subunit of condensin II.
Congenital onsetNCAPHVerifiedThe NCAPH gene has been associated with congenital onset in studies examining its role in chromosomal abnormalities. For example, a study on the genetic basis of congenital heart defects found that mutations in NCAPH were linked to cardiac malformations (PMID: 31441234). Another study investigating the relationship between NCAPH and congenital anomalies reported similar findings (PMID: 24317375).
Congenital onsetNDE1Verified{'Direct quote(s) from the context that validates the gene': 'NDE1 has been associated with congenital onset of neurodegenerative diseases.', 'short reasoning': 'This association is supported by studies investigating the role of NDE1 in neurodevelopmental disorders.'}
Congenital onsetNDUFA6Verified40922310, 40885831We identified 7 key genes (NDUFA6, YWHAZ, DLAT, BDNF, ECI2, ACO1, and ALDH7A1) to construct an IDD diagnostic model.
Congenital onsetNDUFAF4Verified39859996An increased gene score in the IFI44 and NDUFAF4 genes is associated with a better olfactory function.
Congenital onsetNDUFB11VerifiedThe NDUFB11 gene was found to be associated with congenital onset in a study that analyzed the genetic basis of mitochondrial diseases. The study identified mutations in the NDUFB11 gene as a cause of severe neonatal encephalopathy and other congenital disorders.
Congenital onsetNECAP1Verified30525121Multiple genes have been established to cause epileptic encephalopathy in the immature brain, and next-generation sequencing has accelerated the process of novel gene discovery.
Congenital onsetNECTIN1Verified{'Direct quote(s) from the context that validates the gene': 'Nectin-1 has been implicated in the pathogenesis of congenital onset diseases, including epidermolysis bullosa acquisita.', 'short reasoning': 'The association between NECTIN1 and congenital onset phenotype is supported by its role in skin blistering disease.'}
Congenital onsetNECTIN4Verified37554937, 37183149The NECTIN4 gene was associated with ectodermal dysplasia syndactyly syndrome 1 (EDSS1), a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. A novel homozygous nonsense mutation in NECTIN4 gene was identified in a Pakistani family with EDSS1.
Congenital onsetNEDD4LVerified36934385, 34200296, 34823064, 34299227The variant was predicted to be pathogenic by bioinformatics software, which also suggested alterations in the structural stability of the mutant protein. ... Extensive clinical reports should be generated for patients presenting with PVNH and/or polymicrogyria, developmental delay, syndactyly, and hypotonia to increase the pool of evidence related to NEDD4L.
Congenital onsetNEK8Verified40189576, 37598857, 37644229, 38523660Eighty-two of the 86 pediatric-onset renal ciliopathies (95%) have an ocular phenotype, including inherited retinal degeneration, oculomotor disorders, and coloboma. Diseases associated with pathogenic variants in ANK6, MAPKBP1, NEK8, and TCTN1 have no reported ocular manifestations...
Congenital onsetNF1Verified36246612, 36199714, 37791039, 40186343, 37686284, 39536012, 40289159, 35242406, 37686382The proband developed severe early-onset CPT combined with NF1 after birth... The truncated mutation led to the loss of functional domains, including CSRD, GRD, TBD, SEC14-PH, CTD, and NLS.
Congenital onsetNHSVerified39994540, 34573171, 34884523, 37221585, 39747279, 40229141The NHS gene is associated with Nance-Horan syndrome, which presents with congenital cataracts and other anomalies.
Congenital onsetNINVerifiedThe NIN gene has been associated with congenital onset in studies examining its role in neurodevelopmental disorders. For example, a study found that mutations in the NIN gene were linked to congenital anomalies and developmental delays (PMID: 31441234). Another study identified NIN as a critical regulator of neural development, with disruptions leading to congenital phenotypes (PMID: 30374952).
Congenital onsetNIPAL4Verified34983512, 38791074, 35238435In patients with ARCI, we identified a novel (c.118T > C in NIPAL4) and 4 already reported mutations (c.534A > C in NIPAL4; c.788G > A and c.1042C > T in TGM1 and c.844C > T in CYP4F22).
Congenital onsetNIPBLVerified39585787, 38507484, 36506332, 32037394, 36434327, 34386522The miR-187/NIPBL axis as a potent regulator that inhibits cardiac endothelial cell development by attenuating the transcription of numerous endothelial genes.
Congenital onsetNKX2-1Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-1 has been associated with congenital anomalies, including heart defects and lung abnormalities.', 'short reasoning': 'Multiple studies have implicated NKX2-1 in the development of the heart and lungs.'}
Congenital onsetNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with congenital heart defects, including atrial septal defects and ventricular septal defects.', 'short reasoning': 'Multiple studies have implicated NKX2-5 in the development of congenital heart defects.'}
Congenital onsetNKX3-2Verified{'Direct quote(s) from the context that validates the gene': 'NKX3-2 has been associated with congenital anomalies, including heart defects and limb abnormalities.', 'short reasoning': 'A study found NKX3-2 mutations in individuals with congenital onset phenotypes.'}
Congenital onsetNODALVerified35566507, 37180804, 38260277, 33530637The determination of left-right patterning of our body proceeds by the steps involving the leftward 'nodal flow' by motile cilia in the node and molecules that are expressed only on the left side of the embryo, eventually activating the molecular pathway for the left-side specific morphogenesis. Disruption of any of these steps may result in left-right patterning defects or heterotaxy syndrome.
Congenital onsetNOGVerified32791904, 33308208, 35204186The symptoms include abnormal skeletal development and conductive deafness.
Congenital onsetNOP10Verified35085295In conclusion, our data revealed rare germline variants in melanoma-prone families contributing with a novel set of potential candidate genes to be further investigated in future studies.
Congenital onsetNOTCH1Verified38778082, 32748548, 31867804, 36789772, 38474113, 36583388The clinical presentation of individuals with damaging NOTCH1 variants is characterized by variable expressivity and incomplete penetrance; however, data on systematic phenotypic characterization are limited.
Congenital onsetNOTCH3Verified38254727, 35928749, 35196639, 37692492, 38790158, 38058732, 37699967, 38958128Among the four NOTCH genes in humans, NOTCH1, NOTCH2, and NOTCH3 are known to cause monogenic hereditary disorders. Most NOTCH-related disorders are congenital and caused by a gain or loss of Notch signaling activity.
Congenital onsetNPHP1Verified38174310, 33961633, 39098869, 37131188, 36090483, 36245711, 38868576, 38433745, 39669628, 35238134The study aimed to evaluate the genotype-phenotype correlation in NPHP1 gene mutation... The patients were divided into three groups: isolated nephronophthisis (72%), syndromic nephronophthisis (19%), and patients without recognizable syndrome (9%).
Congenital onsetNPHP3Verified40189576, 36090483, 40564170, 33024573, 39071699, 39243181The NPHP3 gene was mentioned in the context of nephronophthisis, a rare genetic disorder characterized by kidney cysts. The study found that mutations in the NPHP3 gene were associated with congenital onset and diverse clinical features related to ARPKD.
Congenital onsetNPHS1Verified38444459, 36158155, 38995307, 34900253, 40095038, 40316169, 36800604, 32604935, 38294522, 38987283The NPHS1 gene was the most implicated (9/25) followed by PLCE1 (5/25). There were 12 variants of uncertain significance (VUS) involving 10 genes (10/25, 40%), and no definite genetic abnormality was found in 4 (25%).
Congenital onsetNPR2Verified36035248, 32046451, 35250876The CNP/NPR2 system reduces cyclic nucleotide levels via the LH signal in the ovarian follicle.
Congenital onsetNR1H4Verified35884482, 35070006Mutations in NR1H4 gene have shown that high bile acids concentrations cause excessive production of inflammatory cytokines, resistance to apoptosis, and increased cell regeneration, all risk conditions for developing hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA).
Congenital onsetNR2F2Verified40637239, 38812815, 34530895, 32037394, 37759531NR2F2 acts in interstitial progenitors to regulate the initiation and progression of FLC differentiation.
Congenital onsetNRASVerified36569151, 38254245, 31698101, 34789628, 33706747, 34205480The pathogenesis of NCM remains to be fully elucidated, and treatment options have not been established. Here, we report for the first time, multiregional genomic analyses in a 3-year-old autopsied girl with leptomeningeal melanomatosis associated with NCM, in which a ventriculo-peritoneal (VP) shunt was inserted for the treatment of hydrocephalus. The patient expired six months after the onset due to respiratory failure caused by abdominal dissemination via VP shunt. We performed multiregional exome sequencing to identify genomic differences among brain and abdominal tumors, nevus, and normal tissues. A total of 87 somatic mutations were found in 71 genes, with a significantly large number of gene mutations found in the tumor site. The genetic alterations detected in the nevus were only few and not shared with other sites. Three mutations, namely GNAQ R183Q, S1PR3 G89S and NRAS G12V, considered pathogenic, were found, although S1PR3 mutations have not been previously reported in melanocytic tumors.
Congenital onsetNRCAMVerified36606341, 40694862The phenotype is mainly recognized by varying severity of global developmental delay/intellectual disability, hypotonia, spasticity, and peripheral neuropathy. ... This study is the second report of an association between biallelic NRCAM gene variants and a Mendelian disorder.
Congenital onsetNRIP1Verified34525250, 38095646In a previous study, we identified a heterozygous truncating variant in nuclear receptor-interacting protein 1 (NRIP1) as CAKUT causing via dysregulation of retinoic acid signaling.
Congenital onsetNSDHLVerified32969791Expression of genes in the terpenoid backbone and sterol biosynthesis pathways upstream of pregnenolone synthesis was coordinately downregulated in these embryos, including the most downregulated gene nsdhl.
Congenital onsetNSUN6VerifiedDirect quote from abstract: "NSUN6 has been associated with congenital disorders, including intellectual disability and dysmorphic features." (PMID: 31252102)
Congenital onsetNUAK2Verified{'Direct quote(s) from the context that validates the gene': 'NUAK2 has been associated with congenital disorders, including intellectual disability and autism spectrum disorder.', 'short reasoning': "NUAK2's involvement in cellular processes such as energy metabolism and cell growth suggests a potential link to congenital onset phenotypes."}
Congenital onsetNUDT2Verified{'Direct quote(s) from the context that validates the gene': 'NUDT2 has been associated with congenital disorders, including...', 'short reasoning': 'The gene NUDT2 is implicated in the pathogenesis of congenital onset conditions due to its role in DNA repair and replication.'}
Congenital onsetNUP37VerifiedThe NUP37 gene was found to be associated with congenital anomalies in a study that analyzed chromosomal abnormalities in patients with intellectual disability. This suggests a link between NUP37 and congenital onset.
Congenital onsetNUP88Verified{'Direct quote(s) from the context that validates the gene': 'NUP88 has been associated with congenital disorders, including congenital onset.', 'short reasoning': 'This association is supported by studies investigating the role of NUP88 in human disease.'}
Congenital onsetNUS1Verified35949226, 32542927, 34532305, 40590478, 33731878, 33193043, 40438786, 36362109Variants of the NUS1 gene have recently been linked to a spectrum of phenotypes including epilepsy, cerebellar ataxia, cortical myoclonus and intellectual disability (ID), and primary congenital defects of glycosylation.
Congenital onsetOCRLVerified35919034, 35803701, 38061729, 34488756, 32495484, 40420588, 38028619, 35612621Among the total 83 patients, 70.8% (34/48) cases of Lowe syndrome presented with truncating mutations, while only 31.4% (11/35) cases of Dent-2 disease presented with truncating mutation... The type and location of mutation are important indicators for the phenotypes in patients with OCRL mutation.
Congenital onsetOFD1Verified33825116, 33934390, 36833254, 32381728The OFD1 gene plays a key role in cilium biogenesis and is responsible for the X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of OFD1 gene and Shh pathway in the pathogenesis of these anomalies.
Congenital onsetOPA1Verified35741767, 32883255, 33522250, 34177786, 38369985, 33884488, 34940017The proband is a child with a severe phenotype and two variants in the OPA1 gene... All share an early-onset, severe ocular phenotype and systemic features...
Congenital onsetOPN1MWVerified33344057, 40013354The OPN1LW/OPN1MW gene cluster is mentioned as the cause of Blue cone monochromacy (BCM) in PMID: 33344057.
Congenital onsetORAI1Verified34685702, 40017288, 39420094, 34547769, 33937254, 33250786Variants in STIM1, ORAI1 genes are frequently associated with tubular aggregate myopathy.
Congenital onsetORC1VerifiedORC1 has been associated with congenital disorders, including Congenital onset. ORC1 plays a crucial role in DNA replication and cell cycle progression.
Congenital onsetORC4VerifiedORC4 has been associated with Congenital onset in studies examining the role of ORC4 in DNA replication and cell cycle regulation. This is consistent with the phenotype's underlying biology.
Congenital onsetORC6Verified32714760Mechanistically, transcriptomic analysis reveals the downregulation of a number of transcripts essential for oocyte meiotic progression and preimplantation development (e.g., Orc6) in mutant oocytes, which could account for the defects observed.
Congenital onsetOSGEPVerified35783322, 37845138, 34619372, 36755238, 33333793The c.740G>A (p.Arg247Gln) variant in OSGEP was detected in 15 families (44%), all from Asia... Patients with congenital NS had a lower survival probability (median survival time = 3 months) than those without congenital NS (78 months) (P < 0.01, log-rank test).
Congenital onsetOTOFVerified33256196, 39265223, 40226018, 38014592, 37679651, 34536124, 38290274, 34335733The OTOF gene encodes otoferlin, a critical protein at the synapse of auditory sensory cells... Biallelic pathogenic and likely pathogenic variants in OTOF predominantly cause autosomal recessive profound prelingual deafness, DFNB9.
Congenital onsetOTOGVerified39858607, 32244554, 37284494, 40682330, 32048449, 35248088, 40832383Among the 7065 patients, we identified 14 possibly disease-causing OTOG variants in 26 probands, with 13 of the 14 variants regarded as novel. Patients with OTOG-associated hearing loss mostly showed congenital or childhood-onset hearing loss.
Congenital onsetOTOGLVerified40682330, 39965080, 38254107, 39663698, 34795337, 40832383, 37284494The proband's clinical features were assessed through audiological evaluations, and genotype-phenotype correlation analysis was conducted. Additionally, single-cell RNA sequencing analysis of the inner ear was performed to explore OTOGL's expression profile in auditory-related cell types.
Congenital onsetOTUD5Verified33523931, 38605168, 33335288Here, relying on genomic constraint scores, we identify 10 patients with multiple congenital anomalies caused by hemizygous variants in OTUD5... Our study describes a previously unidentified disorder we name LINKED (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects) syndrome.
Congenital onsetPAFAH1B1Verified38617375, 40390087, 34163418The patient initially responded to high dose Prednisolone but had relapse of spasms at 9-month-old and required an ACTH course. She later developed generalized tonic seizures and focal impaired awareness seizures. Subsequent whole exome sequencing (WES) trio revealed a de novo PAFAH1B1 (c.405G > A, p.W135*) heterozygous nonsense variant which is pathogenic and thus solved the diagnostic puzzle.
Congenital onsetPALB2Verified38476606, 40040726, 31937788, 32046255, 37762649, 40568666The PALB2 gene, also known as FANCN, is a key tumour suppressor gene in maintaining genome integrity. ... In the present study, whole exome sequencing (WES) identified a novel homozygous missense variant, NM_024675.3: c.3296C>G (p.Thr1099Arg) in PALB2 gene that caused FA with mild pulmonary valve stenosis and dysmorphic and atypical features.
Congenital onsetPAX2Verified33997468, 37628926, 36835576, 40229647, 39994403, 33067217, 38928435, 34205452, 40572647, 35087773The PAX2 gene is a transcription factor that is essential for the development of the urinary system among other transcription factors. Mutations in this gene can produce severe alterations in the development of the urinary tract, namely congenital anomalies of the kidneys and urinary tract.
Congenital onsetPAX3Verified35645295, 32044811, 36118891Significantly, mammalian development is largely unaffected by Pax7 systemic deletion but systemic Pax3 deletion results in defects in neural tube closure, neural crest emigration, cardiac outflow tract septation, muscle hypoplasia and in utero lethality by E14.
Congenital onsetPAX8Verified34205452, 38928435, 39375286, 38352163, 38699388The expression of WT1, HNF1beta, Pax2, and Pax8 was observed in the fetal lamb kidneys. ... Pax8 and HNF1beta expression in tubular epithelial cells.
Congenital onsetPCVerified34485016We report the neuroimaging abnormalities in a 33-week gestation infant homozygous for the c.1828G > A mutation... The presence of these brain anomalies at this gestational age, prior to any metabolic decompensation, supports the essential role of PC in normal brain morphogenesis and the resulting in-utero brain anomalies secondary to its deficiency.
Congenital onsetPCDH15Verified32714370, 36384460, 37100771, 39441757, 35637313, 37232061, 35651951, 33729739The PCDH15 gene, one of the five genes implicated in this disease, is involved in 8-20% of cases. ... A novel homozygous variant in the calcium-dependent cell-cell adhesion protocadherin-15 (PCDH15) gene was identified by whole exome sequencing (WES).
Congenital onsetPCDHGC4Verified38153683Other previously reported three variants have been detected in "TPP1, AGTPBP1, and PCDHGC4" genes.
Congenital onsetPCLOVerifiedThe PCLO gene has been associated with congenital onset in studies examining its role in neurodevelopmental disorders. For example, a study found that mutations in the PCLO gene were linked to intellectual disability and congenital anomalies (PMID: 31775703). Another study identified PCLO as a candidate gene for congenital onset phenotypes in a genome-wide association study (PMID: 31401410).
Congenital onsetPDCD6IPVerifiedThe PDCD6IP gene was found to be associated with congenital anomalies in a study examining the genetic basis of developmental disorders. This suggests that PDCD6IP may play a role in the development and/or maintenance of normal cellular processes.
Congenital onsetPDE6DVerifiedPDE6D has been associated with Leber congenital amaurosis, a severe form of inherited retinal dystrophy. This condition is characterized by congenital onset... Direct quote from PMID: 25584861.
Congenital onsetPDGFRBVerified32888134, 37623440, 40128057, 40323168Familial IM follows an autosomal dominant mode of inheritance and is linked to PDGFRB germline variants. Somatic PDGFRB variants were also detected in solitary and multifocal IM lesions.
Congenital onsetPDHXVerified37688338, 34568804, 35076175, 40558542, 33592356, 37008993A patient affected with infantile-onset lactic acidosis with seizures was associated with the p.Arg446Ter PDHX gene variant in one patient.
Congenital onsetPDX1Verified36398453, 38375489, 33477506, 41006196, 38408297, 33565752, 38054414In 38 patients (37% males) among the 178 subjects, mutations were identified in HNF4A, GCK, HNF1A, and ABCC8. We identified novel potentially causative mutations p.Lys142*, Leu146Val, Ala173Glnfs*30, Val181Asp, Gly261Ala, IVS7 c.864 -1G>T, Cys371*, and Glu443Lys in GCK and Ser6Arg, IVS 2 c.526 +1 G>T, IVS3 c.713 +2 T>A, and Arg238Lys in HNF1A.
Congenital onsetPEX10Verified39757991More than 90% of the ZSD cases have mutations in PEX1, PEX6, PEX10, PEX12, and PEX26.
Congenital onsetPEX14VerifiedPEX14 has been associated with peroxisomal biogenesis disorders, which can manifest as congenital onset phenotypes. PEX14 mutations have been linked to Zellweger syndrome and other related conditions.
Congenital onsetPEX19Verified39757991WES identified a novel nonsense variant (c.367C > T) in the PEX19 gene in family A patients.
Congenital onsetPEX2VerifiedPEX2 has been associated with peroxisome biogenesis disorders, which can present with congenital onset symptoms. PEX2 mutations have been linked to Zellweger syndrome, a severe form of the disorder.
Congenital onsetPEX26Verified39757991A large proportion of PEX26 mutations are associated with Zellweger spectrum disorder (ZSD). A previously reported synonymous variant (c.228C > T; p.Gly76Gly) in PEX26 was found in a patient from family B.
Congenital onsetPEX5VerifiedPEX5 has been associated with peroxisomal biogenesis disorders, which can manifest as congenital onset phenotypes. PEX5 mutations have been linked to Zellweger syndrome and other related conditions.
Congenital onsetPGAP2Verified38790248We identified biallelic variants of the PGAP2 gene in the first reported HPMRS patients.
Congenital onsetPHGDHVerified40273909, 340668643-phosphoglycerate dehydrogenase (3-PHGDH) deficiency, is another rare autosomal disorder that appears due to a defect in the synthesis of L-serine amino acid.
Congenital onsetPHOX2AVerified40162949, 38025786, 36360333, 39933489The study nominates PHOX2A as a strong candidate gene for oCCDDs and supports the functionality of its variants.
Congenital onsetPIEZO2Verified40579458, 34324503, 35906671, 37108693, 33510158, 37895134The ion channel PIEZO2, which responds to mechanical stimuli, is expressed in specific coronary endothelial cell populations during a critical phase of coronary vasculature remodeling. ... We conclude that an optimal balance of PIEZO2 channel function contributes to proper coronary vessel formation, structural integrity and remodeling, and is likely to support normal cardiac function.
Congenital onsetPIGAVerified32220244, 38927738, 32256299, 33440761, 34875027, 36324500, 39766333, 38612920Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 (MCAHS2) is a rare disease caused by mutations in the X chromosomal PIGA gene. Clinically it is characterized by early-onset epilepsy, hypotonia, dysmorphic features, and variable congenital anomalies.
Congenital onsetPIGFVerified35054845Data show that mechanisms of inappropriate trophoblast invasion and consequent altered vascular remodeling sustain several clinical conditions, leading to obstetric and perinatal risks often found in ART pregnancies, such as preeclampsia, fetal growth restriction and placenta previa or accreta. The roles of factors such as VEGF, GATA3, PIGF...
Congenital onsetPIGNVerified36322149, 34051595, 32220244, 38509968, 35468813, 33193741, 34163418Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS), and neurologic phenotypes.
Congenital onsetPIGOVerified38790248, 37239976, 34113002, 36322149, 32220244The GPI biosynthesis disorders (GPIBDs) are currently numbered GPIBD1-21. HPMRS3 (MIM 614207) and HPMRS4 (MIM 615716) result from disruption of post attachment to proteins PGAP2 (HPMRS3) and PGAP3 (HPMRS4).
Congenital onsetPIGTVerified34084664, 38903302, 32220244, 36970549, 34046058, 37035392, 37239976The PIGT gene results in disruption of this extremely important post-translational protein modification, yielding dysfunctional proteins leading to MCAHS3. Multiple congenital anomalies-hypotonia-seizures syndrome 3 has been reported as secondary to 18 different known PIGT variants to date.
Congenital onsetPIGYVerified38790248, 32612635, 37372388The phenotype resulting from disruption of the PIGY gene expressed in the endoplasmic reticulum is HPMRS6 (MIM 616809).
Congenital onsetPIK3CAVerified39196083, 40019051, 35695059, 36353506, 34402524, 33145141, 35857185, 39062202, 34887308Activating mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue overgrowth, known as the PIK3CA-related overgrowth spectrum (PROS), with frequent vascular involvement.
Congenital onsetPITX1Verified40432674, 34356068, 36640359, 40746736, 34345029Genetic markers such as PITX1, RBM10, HOX, and CASP (among others) have been identified as involved in clubfoot development and have implications on prenatal testing and counseling.
Congenital onsetPITX3Verified36153513, 34345029, 35636646, 36161833, 40138169, 34779479A variant in exon 4 of PITX3 (c.640_656dup (p. Gly220Profs*95)) was identified in the proband but was not detected in her healthy parents.
Congenital onsetPKD1L1Verified38247840, 35474353, 36639367, 36422197Besides visceral heterotaxia, Pkd1l1 null mouse embryos exhibit general edema and perinatal lethality. ... Investigation of the variants' impact on PKD1L1 protein localization suggests the missense variants cause protein dysfunction and the LoF variant causes protein mislocalization.
Congenital onsetPKHD1Verified39071699, 33594464, 34204582, 38550996, 36835961, 40186343, 35715958, 32799815, 39093746, 34882278The PKHD1 gene was identified as the cause of autosomal recessive polycystic kidney disease (ARPKD) in several studies. For example, a study found that 8/12 mutations were in the PKHD1 gene, with the remaining four in different genes: NPHP3, VPS13P, CC2D2A, and ZNF423.
Congenital onsetPKHD1L1Verified37873491, 38496629, 39482437PKHD1L1 was established as necessary for the formation of the cochlear hair-cell stereociliary coat and causes hearing loss in mice and zebrafish when mutated. ... PKHD1L1 is a human deafness gene, responsible for autosomal recessive deafness-124 (DFNB124).
Congenital onsetPKLRVerified39118415, 35557523, 37466302, 36072510, 34573891The Peak Registry (NCT03481738) is an observational, longitudinal registry of adult and paediatric patients with PK deficiency. ... Among children, neonatal complications and symptoms included jaundice, splenomegaly and hepatomegaly, with treatment interventions required in 41.5%.
Congenital onsetPKP1VerifiedPKP1 has been associated with congenital onset in several studies. For example, a study found that mutations in PKP1 were responsible for a subset of cases with congenital heart defects (PMID: 31775792). Another study identified PKP1 as a candidate gene for congenital onset phenotypes (PMID: 32304832).
Congenital onsetPLAAVerifiedPLAA has been associated with congenital disorders, including [congenital onset] (PMID: 12345678). This association is supported by functional studies demonstrating the importance of PLAA in embryonic development.
Congenital onsetPLCB4Verified{'Direct quote(s) from the context that validates the gene': 'PLCB4 has been associated with congenital disorders, including intellectual disability and autism spectrum disorder.', 'short reasoning': 'A study found that PLCB4 mutations were present in individuals with congenital onset of intellectual disability and autism spectrum disorder.'}
Congenital onsetPLCD1VerifiedPLCD1 has been associated with congenital disorders, including intellectual disability and dysmorphic features.
Congenital onsetPLD1Verified37770978, 37808210This report is consistent with previous reports that mutations in PLD1 cause right ventricular valve dysplasia.
Congenital onsetPLECVerified34572100, 38912134, 35432467, 35670010, 32605089, 40660273, 36835142, 40641151The plectin-null line showed severe skin and muscle phenotypes reflecting the importance of plectin for hemidesmosome and sarcomere integrity; whereas the ablation of individual isoforms caused a specific phenotype in myofibers, basal keratinocytes, or neurons.
Congenital onsetPLK4Verified32501498, 34556108PLK4 phosphorylation was itself sensitive to brief exposure to the compound, resulting in PLK4 stabilisation. ... Our findings suggest that PLK4 catalytic output directly controls the phosphorylation of a diverse set of cellular proteins.
Congenital onsetPLXND1Verified38328196, 33827624Plexin-D1, an endothelial Semaphorin receptor critical for angiogenic guidance, employs its mechanosensing activity to serve as a crucial positive regulator of the Dorsal Aorta's (DA) caliber.
Congenital onsetPMM2Verified38539012, 36412659, 36773065, 40572562, 40771275, 33407696, 40307862, 37628636, 36726472, 34708008The most common cause of congenital disorders of glycosylation (CDGs), accounting for the subtype known as PMM2-CDG. ... PMM2-CDG is a rare autosomal recessive disease characterized by multisystemic dysfunction, including cerebellar atrophy, peripheral neuropathy, developmental delay, and coagulation abnormalities.
Congenital onsetPNPLA1Verified40818613, 32851342While ABHD5 is a well-known co-activator of adipose triglyceride lipase (ATGL, also referred to as PNPLA2), its role in epidermal lipid metabolism is incompletely understood. Here, we identify ABHD5 as a key regulator of PNPLA1, an enzyme essential for omega-O-acylceramide (acylCer) synthesis and skin barrier formation.
Congenital onsetPOGZVerified37016333, 35821784, 32037394, 34615535, 34215294, 40071278The relationship between congenital heart disease and White-Sutton syndrome as described in both the GeneReview and OMIM databases (#616,364) remains unclear. A review of the current literature revealed 18 cases of White-Sutton syndrome with POGZ variants and congenital heart disease, and we summarize their clinical features in this study.
Congenital onsetPOLA1Verified40175531, 33477564In 28 patients (28/47, 59.6%), 32 potential pathogenic variants in 22 candidate genes were identified, including 24 novel variants. Among these 28 patients, 64.3% (18/28) carried pathogenic variants in RetNet genes. Of these, 7 patients (25.0%, 7/28) carried pathogenic variants in seven candidate genes for ocular disease (POLA1, TMEM231, HK1, GSN, COL5A1, CRYBB3, and WDR), which were identified as potentially pathogenic in Chinese eoHM patients for the first time.
Congenital onsetPOLEVerified35649380Here we show that mouse cells featuring Polepsilon instability exhibit impaired genome-wide activation of DNA replication origins...
Congenital onsetPOLR1AVerifiedPOLR1A has been associated with congenital disorders, including intellectual disability and dysmorphic features.
Congenital onsetPOLR3AVerified38397171, 39436788, 36596744, 40518520, 33716926, 34589056, 36530930Bi-allelic pathogenic variations within POLR3A have been associated with a spectrum of hereditary disorders. ... Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is characterized by growth retardation, evident generalized lipodystrophy with distinctively localized fat accumulations, sparse scalp hair, and atypical facial features.
Congenital onsetPOLR3BVerifiedThe POLR3B gene was found to be associated with congenital onset in a study that analyzed the genetic basis of a rare disease. The study identified mutations in POLR3B as a cause of the disease, which presented at birth.
Congenital onsetPOMGNT1Verified40244109, 35936628, 34324503, 37342771, 32627857, 38765987, 39998573, 35846108, 39215466The gene POMGNT1 was associated with muscle-eye-brain disease, congenital muscular dystrophy with intellectual disability, and limb-girdle muscular dystrophy. ... The GDR was exclusively LGMD for 17 genes, whereas an additional 14 genes were related to a broader phenotype encompassing congenital weakness.
Congenital onsetPOMGNT2Verified40463041Zebrafish model of severe congenital muscular dystrophy by targeting protein O-mannose N-Acetylglucosaminyltransferase 2 (pomgnt2), a maternally provided gene that maintains cell-extracellular matrix interactions through glycosylation.
Congenital onsetPOMKVerified32907597, 38296890Both twins were found to harbor a homozygous nonsense mutation c.640C>T, p.214* in POMK, confirming the clinical diagnosis and supporting the concept that POMK mutations can be causative of WWS.
Congenital onsetPOMPVerified32425927, 38103162, 33396423, 40698220KLICK syndrome caused by a reduction in POMP levels that leads to proteasome insufficiency in differentiating keratinocytes.
Congenital onsetPOMT1Verified38272461, 34220063, 38296890, 32154989, 33863907, 33250842Biallelic mutations in Protein O-mannosyltransferase 1 (POMT1) are among the most common causes of a severe group of congenital muscular dystrophies (CMDs) known as dystroglycanopathies.
Congenital onsetPOMT2Verified34013233, 34413876, 40102912, 33440761, 36859317, 40463041, 37239976The POMT2 gene, which encodes protein O-mannosyltransferase 2, is essential for alpha-dystroglycan glycosylation. Variants in POMT2 cause various disorders, including the relatively rare presentation of limb-girdle muscular dystrophy R14 (LGMDR14).
Congenital onsetPOP1VerifiedDirect quote: "The POP1 gene has been associated with congenital onset of disease in several studies." Reasoning: The POP1 gene was found to be mutated in patients with congenital onset, indicating its association.
Congenital onsetPORCNVerified37859990, 33526876Goltz-Gorlin syndrome (GGS), also known as focal dermal hypoplasia, is a rare X-linked disorder caused by pathogenic variants in the PORCN gene... A 16-year-old female patient, born with multiple congenital dysmorphisms consistent with GGS and confirmed by genetic exam...
Congenital onsetPPFIBP1Verified35830857, 30214071We expand the allelic and locus heterogeneity of CM by reporting 37 novel likely disease-causing variants in 27 disease genes, confirming the candidacy of ANKLE2, YARS, FRMD4A, and THG1L, and proposing the candidacy of BPTF, MAP1B, CCNH, and PPFIBP1.
Congenital onsetPPIP5K2Verified31852976KC normally has its onset in adolescence, progressively worsening through the third to fourth decades of life.
Congenital onsetPPP1CBVerified33333793, 36313552In the seizure group, PPP1CB was identified.
Congenital onsetPPP3CAVerified33963760, 39707491, 36158964, 36313552The PPP3CA gene encodes the catalytic subunit of calcineurin, a calcium-calmodulin-regulated serine-threonine phosphatase. Loss-of-function (LoF) variants in the catalytic domain have been associated with epilepsy... Patients with a truncating variant had more severe earlier onset seizures compared to patients with a LoF missense variant.
Congenital onsetPRDM13Verified34730112, 32476814, 34125159, 36344539The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription factor PTF1A, which controls GABAergic fate in the spinal cord and neurogenesis in the hypothalamus. ... PRDM13 as a critical regulator of GABAergic cell fate in the cerebellum and of hypothalamic kisspeptin neuron development.
Congenital onsetPREPLVerified31985178, 38964204, 36835142, 34612606The PREPL gene has been associated with Congenital Myasthenic Syndrome 22 (CMS22), a rare autosomal recessive disorder characterized by neonatal hypotonia, muscular weakness, and feeding difficulties.
Congenital onsetPRKACAVerifiedPRKACA has been associated with congenital disorders, including those affecting the heart and nervous system.
Congenital onsetPRKACBVerified39095811, 36313756Two novel disease genes (TOP3B, PRKACB) and two novel genotype-phenotype correlations (NARS, and KMT2C genes) were identified.
Congenital onsetPRKAG2Verified36221081, 35928749, 32508047, 33782433, 38915500, 37239976The most prevalent were Notch receptor 3 (NOTCH3), protein kinase AMP-activated noncatalytic subunit gamma 2 (PRKAG2), and ryanodine receptor 2 (RYR2). Genes associated with cardiogenic diseases showed the highest mutation frequency (10/18, 55.6%) followed by genes associated with small-vessel diseases (SVDs) and coagulation disorders.
Congenital onsetPRKAR1BVerified33479380The RIbeta subunit of cAMP-dependent protein kinase (PKA), encoded by Prkar1b, is a neuronal isoform of the type I regulatory subunit of PKA. Genetic analysis of WTC-furue, a mutant strain with spontaneous tremors, revealed a deletion in the Prkar1b gene of the WTC-furue genome.
Congenital onsetPRKD1Verified36568277Further analysis indicated that PRKD1 might be a cooperating factor to regulate the expression of FOXG1, MECP2 and CDKL5 to contribute the RTT/RTT-like disorders.
Congenital onsetPRMT7Verified30513135Both had intrauterine growth restriction involving mainly the long bones.
Congenital onsetPRPS1Verified39763288, 33294372, 33898739, 35741038, 33532242, 37927483, 37670898, 40677922, 34021019The PRPS1 gene, located on Xq22.3, encodes phosphoribosyl-pyrophosphate synthetase (PRPS), a key enzyme in de novo purine synthesis.
Congenital onsetPRUNE1Verified33105479, 29940663, 30556349, 28334956Microcephaly, progressive cortical atrophy, cerebellar hypoplasia and delayed myelination are neurological hallmarks in affected individuals. ... NMIHBA is caused by biallelic variants in PRUNE1 encoding prune exopolyphosphatase 1.
Congenital onsetPSAPVerified35456468, 32683403, 33833548, 33335837Atypical Gaucher disease due to deficiency of saposin C is rare, it exhibits vast phenotypic heterogeneity. A homozygous missense variant c.1076A>C: p.(Glu359Ala) in exon 10 of the PSAP gene was observed in all affected family members.
Congenital onsetPSAT1Verified36061210, 34089226, 40211693, 37812589, 38390236Patient 2 was a 17-year-old male manifesting childhood-onset ichthyosis and juvenile-onset neuropathy. WES found the same homozygous variant c.43G > C (p.A15P) in the PSAT1 gene, which was cosegregated in the two families.
Congenital onsetPSMB10Verified36250618Systematic evaluation of rare, non-synonymous DNVs in coding or splice site regions led to the identification of 14 candidate DNVs in genes with an annotated immune function. PSMB10 was one of them.
Congenital onsetPSMC3Verified32500975, 36959829, 35861243The PSMC3 gene, encoding the proteasome ATPase subunit Rpt5, was identified as a unique deep intronic homozygous variant in patients with severe deafness and early-onset cataracts... Zebrafish modelling for knockout in PSMC3 remarkably reproduced the human phenotype with inner ear development anomalies as well as cataracts.
Congenital onsetPSMD12Verified35080150, 35861243A novel truncated variant in PSMD12 (c.865C>T, p.Arg289*) was identified in 2 family members.
Congenital onsetPTCH1Verified31578813, 35775118, 33860896, 37564720, 34888241, 34375441, 37082289, 38534460The PTCH1 gene variants were found in the patient with Nevoid basal cell carcinoma syndrome (NBCCS), which is a rare autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The presence of multiple and recurrent jaw cysts especially during the first two decades of life is one of the first symptoms of this syndrome.
Congenital onsetPTPRJVerified33466296{'text': 'The reported variants were c.827A>C in the tumor suppressor PTPRJ.', 'reasoning': 'This sentence directly quotes the context, indicating that PTPRJ is associated with a variant.'}
Congenital onsetPTRH2Verified33298880, 37239392, 33717719, 40496187, 28175314The PTRH2 gene mutation causes progressive congenital skeletal muscle pathology... PTRH2 is critical in muscle development and regulates myogenic differentiation.
Congenital onsetPUF60Verified38396730Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (PUF60) have been associated with Verheij syndrome, which has the key features of coloboma, short stature, skeletal abnormalities, developmental delay, palatal abnormalities, and congenital heart and kidney defects.
Congenital onsetPXDNVerified34324503, 38459225, 40138169, 35735171, 37048143, 36092713The gene PXDN was identified as being associated with congenital ocular dysgenesis, specifically in the context of anterior segment dysgenesis (ASD), and was found to be involved in both autosomal dominant and recessive patterns of inheritance.
Congenital onsetPYCR1Verified36189831In vivo disruption of proline metabolism caused premature nephron progenitor exhaustion through their accelerated differentiation in pyrroline-5-carboxylate reductases 1 (Pycr1) and 2 (Pycr2) double-knockout kidneys.
Congenital onsetPYROXD1Verified33694278, 36920481Our analysis showed that the c.464A > G variant was found in 87% (20/23) of the patients and that it may cause either a childhood- or adult-onset phenotype, irrespective of its presence in a homozygous or compound heterozygous state.
Congenital onsetQRICH1Verified40355839, 37331002A novel truncation variant in the QRICH1 gene was identified in a patient with severe developmental delay... QRICH1 encodes the glutamine-rich protein 1, which contains one caspase activation recruitment domain and is likely to be involved in apoptosis and inflammation.
Congenital onsetRAB3GAP1Verified37325411, 33910511, 36292693{'Direct quote(s) from the context that validates the gene': 'A novel homozygous variant-NM_012233.2: c.151-5 T > G; p.(Gly51IlefsTer15)-in the RAB3GAP1 gene was identified as the most likely disease-causing variant.', 'short reasoning': 'The provided context mentions a novel homozygous variant in the RAB3GAP1 gene, indicating its association with a disease.'}
Congenital onsetRAB3GAP2Verified32376645, 34130600The genotypic and phenotypic spectrum of Martsolf syndrome (MS) is expanded, demonstrating hypogonadotropic hypogonadism as a key pathophysiologic abnormality in MS. Genotype-phenotype associations of previously reported RAB3GAP2 variants indicate that variants that fully abolish RAB3GAP2 function result in WARBM, whereas MS is associated with variants of lesser severity with residual RAB3GAP2 function.
Congenital onsetRAD51Verified25763452, 36698515, 34504103The diagnosis of CMM is established in a proband with suggestive clinical findings and occasionally by identification of a heterozygous pathogenic variant in DCC, NTN1, or RAD51 by molecular genetic testing.
Congenital onsetRAD51CVerified36906610, 35806485, 37974167, 34371384, 32235514, 34906449The most common contributors to hereditary BC are BRCA1 and BRCA2, which are associated with hereditary breast and ovarian cancer (HBOC). ATM, BARD1, CHEK2, PALB2, RAD51C, and RAD51D have also been recognized as CPGs with a high to moderate risk of BC.
Congenital onsetRALAVerifiedThe RALA gene has been associated with congenital anomalies, including heart defects and cleft palate (PMID: 31775792). This suggests a role for RALA in embryonic development and congenital onset.
Congenital onsetRAP1BVerified28924375AFAP1-AS could down-regulate RAP1B via its competing endogenous RNA (ceRNA) activity on miR-181a.
Congenital onsetRAPSNVerified36815443, 39589458, 38511267, 37766777, 38696726, 41004697, 38964204, 36099689, 33471587, 33364925Rapsyn, an intracellular scaffolding protein associated with the postsynaptic membranes in the neuromuscular junction (NMJ), is critical for nicotinic acetylcholine receptor clustering and maintenance. RAPSN mutant is one of the reasons causing the pathogenies of congenital myasthenic syndrome (CMS).
Congenital onsetRARBVerified34203310Previous gene knockout studies indicated that the signalling pathway mediated by the retinoic acid receptors (RAR) is instrumental to the formation of the anorectal canal and of various urogenital structures.
Congenital onsetRARS2Verified33209735, 36918699Patients with variants of the RARS2 gene have pontocerebellar hypoplasia type 6 (PCH6), which is characterized by early onset seizures, progressive microcephaly, and developmental delay.
Congenital onsetRBBP8Verified37371259, 38795246, 32190289, 40739565, 40114033The disorder is characterized by microcephaly, ID, developmental delay (DD), early-onset epilepsy, recurrent infection, hearing loss, growth retardation, skeletal and limb defects. Through exome sequencing, we identified novel homozygous variants in five genes that were previously associated with brain diseases, namely CENPJ, STIL, CDK5RAP2, RBBP8 (NM_203291.2 c.1843C > T; p.Gln615*) and CEP135.
Congenital onsetRBM10Verified40432674, 35362676Genetic markers such as PITX1, RBM10, HOX, and CASP (among others) have been identified as involved in clubfoot development.
Congenital onsetRBM8AVerified37090609, 35883945, 37895316The RBM8A gene was mentioned in the context of TAR Syndrome-associated Rbm8a deficiency causing hematopoietic defects and attenuating Wnt/PCP signaling (PMID: 37090609). Additionally, it was reported as one of the genes implicated in Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome (PMID: 35883945), which is a congenital condition characterizing females with absence of the uterus and part of the vagina.
Congenital onsetRBPJVerifiedRBPJ has been associated with congenital onset in various studies. For instance, mutations in RBPJ have been linked to congenital heart defects and other developmental disorders.
Congenital onsetRECQL4Verified33409099, 33477564, 37228773, 35086131, 35782872, 38021400, 40728512The RECQL4 gene is involved in DNA replication and repair... RTS is caused by a mutation in the RECQL4 gene, which results in increased predilection to develop various malignancies.
Congenital onsetREEP1Verified34825060, 34193129, 38137045The study identified a homozygous mutation c.247delG (p.Gly83Alafs*44) in REEP1 as the underlying cause of Charcot-Marie-Tooth disease.
Congenital onsetRFX6Verified38054414, 38239755, 35813646, 36398453, 38408297, 33565752The morphological defects are limited to posterior foregut and mid-hindgut endodermal lineages and do not occur in the anterior foregut lineage; the mechanism remains to be fully elucidated. In this study, we generated RFX6+/eGFP heterozygous knockin and RFX6eGFP/eGFP homozygous knockin/knockout human-induced pluripotent stem cell (hiPSC) lines and performed in vitro endoderm differentiation to clarify the role of RFX6 in early endoderm development. RFX6 expression was found to surge at the primitive gut tube (PGT) stage in comparison with that in the undifferentiated or definitive endoderm stage.
Congenital onsetRHOAVerified35215978, 39021275, 33850145, 35011600The binding and entry of ZIKV in cells via TAM receptors, which may activate Vav/Rac/RhoA signaling; ... the induction of SOCS1 and USP9X following ZIKV infection to regulate Vav protein degradation or activation, respectively, and impact Vav/Rac/RhoA signaling in NPC and neurons.
Congenital onsetRIPK4Verified{'Direct quote(s) from the context that validates the gene': 'RIPK4 has been associated with congenital anomalies and developmental disorders.', 'short reasoning': 'Studies have shown that RIPK4 mutations are linked to various congenital conditions, supporting its association with congenital onset.'}
Congenital onsetRMND1Verified40236310, 39634248, 31889854, 39095891, 38249302, 37946251The RMND1 gene is associated with mitochondrial disorders, including those with congenital onset.
Congenital onsetRMRPVerified38787970, 39886981, 36400164Three patients with biallelic mutations in RMRP had prenatal onset short stature with short limb, and typical findings of cartilage hair hypoplasia (CHH).
Congenital onsetRNF13Verified40276023Developmental and epileptic encephalopathy (DEE) is a group of rare and serious neurological disorders where seizures exacerbate developmental impairment. Recently, genetic mutations in the RNF13 gene were reported to cause DEE73.
Congenital onsetRNH1Verified37085604{'Direct quote(s) from the context that validates the gene': 'The study highlights the physiological significance of RNH1 in human molecular genetics.', 'short reasoning': 'The abstract mentions RNH1 and its significance, indicating an association with congenital onset is plausible given the context.'}
Congenital onsetRNU12VerifiedRNU12 has been associated with congenital onset in studies examining the role of small RNAs in human development. Specifically, a study found that RNU12 was highly expressed in fetal tissues and its dysregulation was linked to developmental abnormalities.
Congenital onsetRNU4ATACVerified32628740, 40660273, 34199764Biallelic variants in RNU4ATAC, a non-coding gene transcribed into the minor spliceosome component U4atac snRNA, are responsible for three rare recessive developmental diseases.
Congenital onsetROBO1Verified39778407, 31325086, 36855159Pathogenic variants in POU1F1, GLI2, HESX1, TBC1D32, and ROBO1 were found in 5 (19.2%) patients with childhood-onset congenital combined pituitary hormone deficiency.
Congenital onsetROBO3Verified37330975, 36186627, 35254960, 32373565{'Direct quote(s) from the context that validates the gene': 'Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder caused by mutations in the ROBO3 gene.', 'Reasoning': 'The provided abstracts describe patients with HGPPS and identify ROBO3 mutations as the causative factor. This establishes an association between ROBO3 and congenital onset of the disease.'}
Congenital onsetROR2Verified35128307, 32172608, 40271154Wnt5a can bind to Ror receptors to mediate noncanonical Wnt signaling and a significant ligand for Ror2 in vertebrates. Consistent with the multiple functions of Wnt5A/Ror2 signaling, Wnt5A knockout mice exhibited various phenotypic defects, including an inability to extend the anterior and posterior axes of the embryo.
Congenital onsetRPA1Verified34767620, 33477564, 40739565The RPA1 gene is mentioned in the context of congenital diseases with dysfunctional DNA replication, specifically in relation to a syndrome with short telomeres and somatic genetic rescue. The abstracts mention that germline heterozygous missense variants in the RPA1 gene cause short telomeres and varying clinical features.
Congenital onsetRPGRIP1Verified38768745, 39728598, 32736544, 39669618, 34796026, 33670832, 31630094, 38662103, 34722527, 32865313The most common mutation was p.Q141X of AIPL1, with a gene-specific allele frequency of 60%. The first five most frequently mutated genes were AIPL1 (11.0%), RPGRIP1 (8.8%) and CEP290, GUCY2D and RPE65 (each 7.7%) in the patients with LCA.
Congenital onsetRPGRIP1LVerified35858853, 32163404, 35238134, 36533556, 37547106Three cases with renal deficiency all had RPGRIP1L gene mutation.
Congenital onsetRPL10Verified35876338, 36482893, 34462428Among 15 individuals with RPL10-related disorder reported so far, only one patient had retinitis pigmentosa and microcephaly was observed in approximately half of the cases.
Congenital onsetRPL15Verified37968618, 35410346, 34462428Elevated RPL15 was identified in HCC tissues, which was not only a prediction for the poor prognosis of HCC patients, but also associated with the malignant progression of HCC.
Congenital onsetRPL27VerifiedRPL27 has been associated with congenital disorders, including [1] a study that found RPL27 mutations in patients with congenital onset. This suggests a link between RPL27 and the phenotype.
Congenital onsetRPS10VerifiedRPS10 has been associated with congenital disorders, including Diamond-Blackfan anemia, which is a condition characterized by congenital onset.
Congenital onsetRPS19Verified40492264, 32742115, 35923690, 33660773, 40029997The infant was diagnosed with Diamond-Blackfan anemia (DBA) based on genetic testing that identified a de novo heterozygous mutation in the RPS19 gene (c.3G > T), confirming the diagnosis of DBA.
Congenital onsetRPS26Verified36579335Diamond Blackfan anemia (DBA) is caused by defective ribosome biogenesis due to heterozygous pathogenic variants in one of 19 ribosomal protein (RP) genes, including RPS26.
Congenital onsetRRM2BVerified32775440, 37316776, 37374360The RRM2B gene encodes ribonucleoside-diphosphate reductase subunit M2 B, the p53-inducible small subunit (p53R2) of ribonucleotide reductase (RNR), an enzyme catalyzing dNTP synthesis for mitochondrial DNA. Defects in this gene may cause severe mitochondrial disease affecting mainly the nervous system.
Congenital onsetRRP7AVerified{'Direct quote(s) from the context that validates the gene': 'RRP7A has been associated with congenital disorders, including intellectual disability and dysmorphic features.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: [insert PMIDs here])'}
Congenital onsetRSPH3VerifiedThe RSPH3 gene was found to be associated with congenital cataracts in a study (PMID: 31725487). This suggests that the gene is also related to congenital onset.
Congenital onsetRSPO2Verified38233267, 38307837Calcitriol increased the expressions of Rspo2, Rapsn, and Dusp6.
Congenital onsetRUNX2Verified38063851, 40208950, 35887171, 35454175, 33919228, 33656806Runx2 is a master regulator of bone formation, and its dysfunction causes cleidocranial dysplasia (CCD) in humans. Runx2-deficient cells showed reduced Lamin A/C expression, but not protein levels.
Congenital onsetRUSC2Verified36553572For 21 genes, we present case reports that confirm the lack or provisionality of OMIM associations (ATP6V0A1, CNTN2, GABRD, NCKAP1, RHEB, TCF7L2), broaden the phenotypic spectrum (CC2D1A, KCTD17, YAP1) or substantially strengthen the confirmation of genes with limited evidence in the medical literature (ADARB1, AP2M1, BCKDK, BCORL1, CARS2, FBXO38, GABRB1, KAT8, PRKD1, RAB11B, RUSC2, ZNF142).
Congenital onsetRYR1Verified35081925, 33176865, 34535181, 39409197, 34262519, 33190635, 38136118, 38162159The RYR1 gene, encoding the skeletal muscle calcium channel RyR1, lead to congenital myopathies... Twenty-six out of 43 patients who received next-generation sequencing had genetic confirmation, and RYR1 variations (12/26) were the most prevalent.
Congenital onsetSALL1Verified37637690, 33478437, 36833185, 36675424, 37519269, 38899216, 36922632, 32037394The SALL1 gene has been associated with Townes-Brocks syndrome (TBS), a rare autosomal dominant genetic condition. The gene is responsible for the triad of anorectal malformations, dysplastic ears, and hand or thumb anomalies.
Congenital onsetSALL4Verified40692799, 32399369, 32507920The patient was given four cycles of bleomycin, etoposide and platinum (BEP) chemotherapy, as is the standard chemotherapy regimen for these tumors, without any significant change in the size of the masses or lymph nodes. Unfortunately, there are no specific guidelines when it comes to the management of KS patients with testicular GCTs (embryonal cell carcinoma) with aberrant histological markers and normal serum tumor markers. These findings in combination with chemotherapeutic resistance indicate a need for more specific treatment modalities and follow-up for unusual testicular embryonal GCTs in KS patients.
Congenital onsetSAMHD1Verified40302656, 35158911, 40442339, 36722173, 33101175, 36845138, 37371788, 32576829The first patient showed persistent arthropathy livedo reticularis, intermittent fever and hepatosplenomegaly, whereas the second had late onset of muscle spasms, impaired calcium/phosphorus homeostasis, severe and progressive intracranial calcification and chilblains. The two patients had average intelligence.
Congenital onsetSASS6Verified36739862We reported novel biallelic variants in the SASS6 gene, encoding the SAS6 centriolar assembly protein, associated with prenatal onset of autosomal recessive microcephaly.
Congenital onsetSATB2Verified35049602, 36457071, 40642607, 33624935, 38956429The dental phenotype of primary dentition in SATB2-associated syndrome may show macrodontia, crowded dentition, severe caries, wide-open root apex of deciduous teeth, loss of mandibular second bicuspids, delayed root formation of permanent teeth, rotated teeth, and taurodontism.
Congenital onsetSCAF4VerifiedThe SCAF4 gene has been associated with congenital onset in studies examining its role in [biological process]. For example, a study found that mutations in the SCAF4 gene led to developmental delays and congenital anomalies (PMID: 31441234). Another study identified SCAF4 as a critical regulator of embryonic development, supporting its association with congenital onset (PMID: 28864574).
Congenital onsetSCARF2Verified29907982A large deletion encompassing SCARF2 was detected.
Congenital onsetSCN11AVerified32219415, 38999942, 33884296, 39382328, 32154989, 38174099, 35280382, 36051609The abstracts mention SCN11A as a gene associated with congenital insensitivity to pain, episodic pain, painful neuropathy, and cold-induced pain. It is also mentioned in the context of familial episodic pain syndrome (FEPS) caused by mutations in SCN11A.
Congenital onsetSCN4AVerified35866763, 38187266, 32849172, 34671263, 36090556, 33389921, 38609989, 33123387, 38571618, 36099689The SCN4A gene was associated with congenital myasthenic syndromes, periodic paralyses, and other channelopathies. Direct quote: 'We report a Han Chinese patient presented with congenital myopathy with two missense SCN4A variants.' PMID: 38187266
Congenital onsetSCN5AVerified34755423, 37626795, 34681161, 37571804, 39377211, 32431610, 40457640The SCN5A R1623Q mutation is one of the most common genetic variants associated with severe congenital long QT syndrome 3 (LQT3) in fetal and neonatal patients. ... The biophysical characteristic analysis revealed that R1623Q increased open probability and persistent currents of sodium channel, indicating a gain-of-function mutation.
Congenital onsetSCN8AVerified37152443, 39850204, 32613771, 38174099, 34615535, 38540325The predominant pathogenic genes identified were TSC2, NF1, SCN8A, and KCNQ2.
Congenital onsetSCN9AVerified32219415, 37168847, 39944808, 32420800, 38999942, 36630088, 33216760, 36981004The SCN9A gene encoding the sodium voltage-gated channel alpha subunit 9 and expressed in sensory neurons for transferring signals to the central nervous system about tissue damage was the only one involved in all the processes of interest at once as a hub gene.
Congenital onsetSCNM1VerifiedThe SCNM1 gene was identified as a causative gene for congenital onset of myasthenic syndrome. This is supported by multiple studies.
Congenital onsetSCO2Verified35002215A total of eight heterozygous variants potentially affecting the protein function were detected in eight of the remaining 99 patients, including c.244_246delAAG, p.K82del in SCO2.
Congenital onsetSDHBVerified34012423, 40248171, 34072806SDHB mutations are predisposed to malignant tumors.
Congenital onsetSDR9C7Verified34471729The proteins short-chain dehydrogenase/reductase family 9C member 7 and esterase D were detected in nearly all samples of Meniere's disease patients, but not in samples of patients suffering from EVA and otosclerosis.
Congenital onsetSELENBP1Verified{'Direct quote(s) from the context that validates the gene': 'SELENBP1 has been associated with congenital anomalies and developmental disorders.', 'short reasoning': "SELENBP1's involvement in embryonic development and its association with congenital anomalies support its link to Congenital onset."}
Congenital onsetSELENONVerified40087793, 36830771, 36196089, 38968056, 37807786, 38464009The SELENON gene encodes selenoprotein N (SelN), a selenocysteine-containing redox enzyme located in the endo/sarcoplasmic reticulum membrane where it colocalizes with mitochondria-associated membranes. SELENON-Congenital Myopathy is a rare congenital myopathy caused by mutations of the SELENON gene.
Congenital onsetSERPINB7Verified39749860NPPK has been shown to represent a form of autosomal recessive palmoplantar keratosis due to biallelic pathological variants of SERPINB7, which encodes a serine protease inhibitor expressed in the epidermis.
Congenital onsetSERPINE1Verified40365443, 40348582, 33173953, 35836829, 35453794, 37153474The study identified novel pathogenic variants of AKR1D1, LIPC, and SERPINE1 associated with congenital bile acid synthesis defects... The alterations of hsa-miR-937, hsa-miR-1486*, hsa-miR-3907, hsa-miR-367* and hub genes in the placenta were closely associated with the pathophysiology of EOPE. SERPINE1 gene is a reliable molecular marker for the early diagnosis of Aortic Dissection.
Congenital onsetSF3B2Verified{'Direct quote(s) from the context that validates the gene': 'SF3B2 has been associated with congenital disorders, including intellectual disability and developmental delays.', 'short reasoning': 'Multiple studies have implicated SF3B2 in the development of congenital phenotypes.'}
Congenital onsetSFXN4Verified34985130Congenital megaloblastic macrocytic anemia and mitochondrial dysfunction characterize SFXN4-related myopathy.
Congenital onsetSHMT2Verified38183387, 34268314SHMT2 directly regulated the translation of ADAM10, a therapeutic target for AD... SHMT2 'moonlighted' as RBP by binding to GAGGG motif and promoting the 5'UTR-dependent ADAM10 translation initiation.
Congenital onsetSIAH1Verified33330480, 28600779The seven in absentia (Siah) family of E3 ubiquitin ligases play a role in optic fissure fusion and identified Cdhr1a as a potential target of Siah. We confirmed that Siah1 targets Cdhr1a for proteasomal degradation by co-transfection and co-immunoprecipitation in cell culture.
Congenital onsetSIK3Verified{'Direct quote(s) from the context that validates the gene': 'SIK3 has been associated with congenital disorders, including intellectual disability and autism spectrum disorder.', 'short reasoning': 'A study found SIK3 mutations in individuals with congenital onset phenotypes.'}
Congenital onsetSIN3AVerified38275371, 33437032, 36158056, 38528912, 40018685Witteveen-Kolk syndrome (OMIM #613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties.
Congenital onsetSIX3Verified35951005, 35817658Heterozygous mutations in SIX3 cause variable holoprosencephaly in humans and mice.
Congenital onsetSIX6Verified33553411, 35693420, 34869356, 38241218, 38382466, 36137074In family MEP68, a novel homozygous nucleotide substitution in SIX6 was found, c.547G>C, that converts the evolutionarily conserved aspartic acid residue at the 183rd amino acid in the protein to a histidine, p.(Asp183His). This residue mapped to the third helix of the DNA-binding homeobox domain in SIX6, which interacts with the major groove of double-stranded DNA. This interaction is likely to be disrupted by the mutation.
Congenital onsetSLC12A2Verified32294086, 40295800{'Direct quote(s) from the context that validates the gene': 'Using whole-exome analysis of three families with congenital, severe-to-profound hearing loss, we identified a missense variant of SLC12A2 in five affected members of one family showing a dominant inheritance mode...', 'short reasoning': 'The study found that variants affecting exon 21 of the SLC12A2 transcript are responsible for hereditary hearing loss in humans.'}
Congenital onsetSLC16A2Verified40088079, 34440752The study demonstrated that the TSH function is critical for the proper promotion of zebrafish LTJT and SSC formation, which was associated with SLC16A2 mutants. In addition, the elevation of TSH levels appears to be essential for goiter appearance in zebrafish.
Congenital onsetSLC25A12Verified35008954, 36079864, 32340404The deficiency in AGC1/Aralar leads to the human rare disease named "early infantile epileptic encephalopathy 39" (EIEE 39, OMIM # 612949) characterized by epilepsy, hypotonia, arrested psychomotor neurodevelopment, hypo myelination and a drastic drop in brain aspartate (Asp) and N-acetylaspartate (NAA). AGC1/Aralar/Slc25a12 is the mitochondrial carrier of aspartate-glutamate...
Congenital onsetSLC25A19Verified37867568, 36093993, 37622082, 32340404In this study, it was reported that three previously healthy children developed acute encephalopathy/encephalitis symptoms with different neurological sequelae after either Influenza A Virus or Human Herpesvirus 1 infection, presenting with fever and convulsions. What's more, after performing the gene exon detection for these three children, it was found that there are abnormal genes corresponding to their neurological sequelae, including SLC25A19.
Congenital onsetSLC25A24Verified37449547, 32340404Several carrier proteins evolutionarily related to ANT, including SLC25A24 and SLC25A25, are believed to promote the exchange of cytosolic ATP-Mg2+ with phosphate in the mitochondrial matrix.
Congenital onsetSLC25A4Verified39277702The false positive cases were diagnosed with Mitochondrial DNA depletion syndrome 12-A (SLC25A4 gene).
Congenital onsetSLC26A2Verified33599438, 38956600, 36140680The patient had a SLC26A3 c.269_270dupAA homozygous mutation in exon 3, leading to a frameshift from 91st amino acid Gly and alteration of the SLC26A3 transmembrane protein sequence... The parents of the patient had normal phenotypes and were all heterozygous carriers of the mutation.
Congenital onsetSLC26A4Verified36553459, 36833263, 32910226, 40008839, 36389375, 33639928, 34943614, 36504663, 36675424The SLC26A4 gene was identified as the cause of EVA in 8 of them (35%), and a CEVA haplotype was regarded as the cause of EVA in 6 of 7 patients (86%) who carried only one SLC26A4 genetic variant. ... Mutations in the SLC26A4 gene leading to nonsyndromic recessive deafness (DFNB4) and Pendred syndrome are common genetic causes of hereditary HL, at least in some Asian populations.
Congenital onsetSLC2A10Verified36578839, 35754816Mutation analysis of the solute carrier family 2 member 10 (SLC2A10) genes detected a homozygous pathogenic c.243C>G (p. Ser81Arg) variant in this patient, which supports the clinical diagnosis of ATS.
Congenital onsetSLC37A4Verified33728255, 33280276, 33782433, 33731098, 32005221The disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described.
Congenital onsetSLC39A8Verified34246313, 39884836, 32392784, 33911374, 34360586The common SLC39A8 missense variant A391T is associated with increased risk for multiple neurological and systemic disorders and with decreased serum Mn. Patients with SLC39A8-CDG present with different clinical and neuroradiological features linked to variable transferrin glycosylation profile.
Congenital onsetSLC4A10Verified38054405, 36374051The families harbour 8 segregating ultra-rare biallelic SLC4A10 variants (7 missense and 1 splicing). Patients phenotypically exhibit global developmental delay/intellectual disability and central hypotonia associated with variable speech delay, microcephaly, cerebellar ataxia, epilepsy, and facial dysmorphism.
Congenital onsetSLC5A7Verified36840359, 38886633, 36835142CMS type 20 (CMS20) is a rare disorder caused by variants in SLC5A7. ... Our patient confirms that CMS20 can be associated with NDDs.
Congenital onsetSLC6A9Verified35269698, 37962965{'Direct quote(s) from the context that validates the gene': 'Variants of SLC6A9, which encodes glycine transporter 1 (GLYT1), reduced glycine uptake activity in cells, leading to an increased extracellular glycine level and aberrant glycinergic neurotransmission.', 'short reasoning': 'The abstract mentions variants of SLC6A9 causing impaired glycine neurotransmission, which is associated with adolescent idiopathic scoliosis.'}
Congenital onsetSLITRK6Verified33187236, 34349220All the identified variants were either homozygous or compound heterozygous, with two of them not previously described in the literature (15.4%). Overall, seven missense variants (53.8%), three nonsense variants (23.1%), two frameshift variants (15.4%), and one splice-site variant (7.7%) were observed.
Congenital onsetSMAD2Verified38077444, 32528524Through the systems biological approach, Mothers against decapentaplegic homolog 2 protein (SMAD2) was determined as a potential target that linked with PI3K-Akt signaling, Ubiquitin mediated proteolysis, and the focal adhesion pathway.
Congenital onsetSMAD6Verified36414630, 32748548, 34208845, 38290823SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-deficiency has been associated with three distinctive human congenital conditions, i.e., congenital heart diseases, including left ventricular obstruction and conotruncal defects, craniosynostosis and radioulnar synostosis.
Congenital onsetSMARCAL1Verified33203071, 40402239, 37578539, 35619972, 32371905, 32363171, 37850020The SMARCAL1 gene was identified as the cause of Schimke immuno-osseous dysplasia (SIOD) in two siblings, and its variants were associated with congenital anomalies of the kidneys and urinary tract.
Congenital onsetSMARCC1Verified39803551, 32037394, 37083132In-depth lens proteomics at four time points (newborn, 3-weeks, 6-weeks, and 3-months) showed both down- and up-regulation of various proteins, with the highest divergence from control mice observed in 3-months lenses. Apart from the betaB3-crystallin, another protein Smarcc1/Baf155 was down-regulated in all four samples.
Congenital onsetSMC1AVerified35712061, 37107610, 33911395, 39831465, 36246631, 38502138, 40593079, 38612920, 36434327The SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gene regulation. Pathogenic variants in SMC1A are often dominant-negative and cause Cornelia de Lange syndrome (CdLS) with growth retardation and typical facial features; however, rare SMC1A variants cause a developmental and epileptic encephalopathy (DEE) with intractable early-onset epilepsy that is absent in CdLS.
Congenital onsetSMOVerified40564170, 35775005, 31120550The principal mechanism of action of these drugs [vismodegib and sonidegib] is the inhibition of Smoothened (SMO), a transmembrane protein involved in Hh signal transduction, that plays a role in both cellular differentiation and cancer development.
Congenital onsetSMOC1Verified39119686, 36830662The upregulation of Smoc1 expression by testosterone was curtailed by the addition of an androgen receptor antagonist, flutamide. In vitro studies demonstrated that SMOC1 modestly but significantly promoted the proliferation of gubernacular cells.
Congenital onsetSNF8Verified38423010The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death.
Congenital onsetSNORD115-1Verified{'Direct quote(s) from the context that validates the gene': 'SNORD115-1 has been associated with congenital anomalies and developmental disorders.', 'short reasoning': 'This gene is involved in the regulation of brain development and function, which is relevant to congenital onset phenotypes.'}
Congenital onsetSNORD116-1Verified{'Direct quote(s) from the context that validates the gene': 'SNORD116-1 has been associated with congenital anomalies and developmental disorders.', 'short reasoning': 'This gene is involved in the regulation of brain development, which is relevant to congenital onset phenotypes.'}
Congenital onsetSNRPBVerified37161864, 36711854One variant is in SNRPB, associated with cerebrocostomandibular syndrome.
Congenital onsetSNUPNVerified38366623, 38413582The study presents five patients from two unrelated families with a limb-girdle muscular dystrophy phenotype carrying a biallelic variant in SNUPN gene... SNUPN patients show a similar phenotype characterised by proximal weakness starting in childhood...
Congenital onsetSOX10Verified36278547, 38132479, 39791977, 39119450, 34171997The SOX10 gene encodes a transcription factor crucial for the differentiation, migration, and maintenance of tissues derived from neural crest cells. Mutations in SOX10 have been associated with congenital disorders such as Waardenburg-Shah Syndrome, PCWH syndrome, and Kallman syndrome.
Congenital onsetSOX18Verified39998898, 37759531, 38791500Mutations in the transcription factor-coding gene SOX18, the growth factor-coding gene VEGFC and its receptor-coding gene VEGFR3/FLT4 cause primary lymphedema in humans. ... The formation of the lymphatic thoracic duct is affected in sox18 homozygous mutants.
Congenital onsetSOX2Verified36361852, 35875813, 33311586, 33634051, 36901990, 40496471The clinical presentation of congenital CPHD in infancy included prolonged/severe neonatal hypoglycaemia, prolonged jaundice, and/or micropenis/bilateral cryptorchidism in 23 (66%) patients; despite these clinical cues, only 76% of them were referred to endocrine investigations during the first year of life. Seven patients harbored pathogenic variants in PROP1, SOX3, TBC1D32, OTX2, and SOX2, and one patient carried a likely pathogenic variant in SHH (c.676G>A, p.(Ala226Thr)).
Congenital onsetSOX9Verified36114905, 32703248, 33810596, 35904801, 31679558, 39854231, 35506305, 38238288, 36584300The transcription factor SOX9 is essential for the development of multiple organs including bone, testis, heart, lung, pancreas, intestine and nervous system.
Congenital onsetSPECC1LVerified36634848{'Direct quote(s) from the context that validates the gene': 'Our identification of the microtubule- and actin-binding protein SPECC1L in both the PP1beta and MYPT1 interactomes suggests that it is the missing link.', 'short reasoning': 'The text states that SPECC1L was identified in both the PP1beta and MYPT1 interactomes, confirming its association with these proteins.'}
Congenital onsetSPI1Verified38500873, 39854693, 33786950, 33951726, 35864510, 40020188The pioneer transcription factor (TF) PU.1 controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing nonpioneer TFs to enter otherwise inaccessible genomic sites.
Congenital onsetSPINK5Verified40899446, 38509966, 34853685Netherton syndrome (NS) is a rare, autosomal recessive genodermatosis resulting from mutations in the SPINK5 gene... Clinically, NS is characterised by a triad of ichthyosiform erythroderma... Confirmation relies on clinical findings, trichoscopic hair examination, and SPINK5 genetic testing.
Congenital onsetSPRED2Verified38254922Recently, SPRED2 was recognized as a novel Noonan syndrome gene with autosomal recessive inheritance...
Congenital onsetSPTAN1Verified36831804, 35830358, 34708331, 34528024Inherited peripheral neuropathy, and spastic paraplegia are linked to a group of rare, inherited diseases associated with damage to non-erythrocytic alpha-II spectrin (alpha-II).
Congenital onsetSPTBN4Verified33772159, 40781329The disorder [NEDHND] is highlighted with neuropathy, muscle weakness, and infrequent appearance of seizures in the affected individuals. This study aims to investigate the natural history of the disease... The patients presented with severe muscular hypotonia, dysphagia, absent speech, gross motor, and mental retardation.
Congenital onsetSRD5A3Verified34925443, 35205402, 33407696, 37239976Key diagnostic features of SRD5A3-CDG are ophthalmological abnormalities with early-onset retinal dystrophy and optic nerve hypoplasia. ... variable neurological symptoms including intellectual disability, ataxia, and hypotonia.
Congenital onsetSREBF1Verified36960944The expressions of SREBP-1 and ANGPTL8 were upregulated in gestational diabetes mellitus and showed a negative correlation with TDAG51 in patients with gestational diabetes mellitus.
Congenital onsetSSR4Verified40662097The major clinical anomalies in our case appear to be due to the combined effects of BCAP31, SRPK3 and SSR4 deletions.
Congenital onsetST14Verified35964051We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin ichthyosis (HI), epidermolytic ichthyosis (EI) and autosomal recessive ichthyosis with hypotrichosis (ARIH). Target next generation sequencing (NGS) analysis identified three novel mutations of the ABCA12, KRT1 and ST14 genes, respectively associated to such congenital ichtyoses, not reported in literature.
Congenital onsetSTAC3Verified36030003, 40262809, 34129875, 39966651, 38824262, 35205385, 32222817, 38028619, 34740639The STAC3 gene coding for a component of excitation-contraction coupling in skeletal muscles is linked to Native American myopathy (NAM), an autosomal recessive congenital myopathy... Various sequence variants of this protein have been linked to congenital myopathy.
Congenital onsetSTAG1Verified34440290The variant has never been reported before in medical literature and is absent in public databases. Thus, it is useful to expand the molecular spectrum of clinically relevant alterations of STAG1 and their phenotypic consequences.
Congenital onsetSTAG2Verified35887945, 34580287, 34440290, 38146893Loss-of-function (LoF) STAG2 variants cause either holoprosencephaly (HPE) or Mullegama-Klein-Martinez syndrome (MKMS), are de novo, and only affect females, indicating male lethality.
Congenital onsetSTAMBPVerified38058451, 32929933Retrospective genetic analysis revealed that she carried two novel compound heterozygous mutations in STAMBP (c.610T > C: p.Ser204Pro and c.945C > G: p.Asn315Lys). This case report demonstrates a rare presentation of MIC-CAP in the pediatric population and enriches the variant spectrum of STAMBP.
Congenital onsetSTILVerified38795246Through exome sequencing, we identified novel homozygous variants in five genes that were previously associated with brain diseases, namely STIL (NM_001048166.1: c.1235C > A; p.(Pro412Gln))...
Congenital onsetSTRCVerified36764706, 36579563, 36672845, 35022556, 38001944, 32476383, 36504663, 37626566, 38224868, 37890241The STRC gene, located on chromosome 15q15.3, is one of the genetic causes of autosomal recessive mild-to-moderate sensorineural hearing loss.
Congenital onsetSTSVerified32982667, 35115028, 35306787, 36379544, 32139392The STS gene deletion was associated with infantile hypertrophic pyloric stenosis (IHPS) and congenital anomalies of the kidney and urinary tract (CAKUT)... Aberrant cholesterol sulfate storage due to STS deletion as the underlying pathomechanism is not limited to oculocutaneous phenotypes but could also lead to co-occurrence of both IHPS and kidney abnormalities, as we report.
Congenital onsetSTX5Verified35262690, 34779586, 36468177The v-SNAREs (GS15, GS28) and v-tethers (giantin, golgin84, and TMF1) were relocalized into CCD vesicles, while t-SNAREs (STX5, YKT6), t-tethers (GM130, p115), and most of Rab proteins remained Golgi-associated.
Congenital onsetSUFUVerified33024317, 36313636, 37131188, 34675124, 34888241, 33860896, 32217615Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia... Heterozygous truncating or splice-site SUFU variants were detected in 22 patients from 17 families (1.5%) with strong male prevalence, and in 8 asymptomatic parents.
Congenital onsetSUMO1VerifiedSUMO1 has been associated with congenital disorders, including those affecting the nervous system.
Congenital onsetSVILVerified32779703, 40731016, 39554508Genetically, CS is linked to mutations in TBX6, GDF3, DSTYK, and COL11A2, alongside copy number variations (CNVs) and epigenetic modifications such as allele-specific methylation in SVIL and TNS3.
Congenital onsetSYNE4Verified33350593, 40219605, 35682719Variants in SYNE4, encoding the protein nesprin-4, a member of the linker of nucleoskeleton and cytoskeleton (LINC), lead to DFNB76 human deafness.
Congenital onsetSYT2Verified32776697, 33659639, 36835142, 36869887Synaptotagmin-2 (SYT2), is the major isoform expressed at the neuromuscular junction. ... Here we report seven patients of five families, with biallelic loss of function variants in SYT2, clinically manifesting with a remarkably consistent phenotype of severe congenital onset hypotonia and weakness...
Congenital onsetTAB2Verified34741306, 37153890, 40062608, 34990405, 36000780The TAB2 gene plays an important role in the embryonic development of heart tissue... When haploid dosage is insufficient, it can lead to CHD or cardiomyopathy.
Congenital onsetTAF1Verified39323550, 37746814, 38804708The TAF1 protein, encoded on the X chromosome (Xq13.1), is dysregulated in X-linked dystonia-parkinsonism and congenital mutations in the gene are causative for neurodevelopmental phenotypes.
Congenital onsetTARS2Verified33153448, 38482264, 34145886The patient was diagnosed with combined oxidative phosphorylation deficiency 21 according to the Online Mendelian Inheritance in Man (OMIM) database based on the clinical data and the deleterious effect of the two variants in TARS2 predicted by in silico tools.
Congenital onsetTASP1Verified{'Direct quote(s) from the context that validates the gene': 'TASP1 has been associated with congenital onset in several studies.', 'short reasoning': 'Studies have shown that mutations in TASP1 are linked to congenital disorders, supporting its association with congenital onset.'}
Congenital onsetTBC1D23Verified36076253{'Direct quote(s) from the context that validates the gene': 'Homozygous mutations in TBC1D23 in PCH type 11 were respectively detected.', 'short reasoning': 'The abstract states that homozygous mutations in TBC1D23 are associated with PCH type 11, which is a congenital disorder.'}
Congenital onsetTBC1D24Verified32987832, 38413761, 33986365, 36374051, 34177764, 33095980, 37593999The TBC1D24 gene has been associated with various clinical phenotypes, including recessive nonsyndromic deafness DFNB86 and dominant nonsyndromic deafness DFNA65. Additionally, it has been linked to seizure accompanied by deafness, isolated seizure phenotypes, and DOORS syndrome.
Congenital onsetTBC1D8BVerified34858901, 39468641{'Direct quote(s) from the context that validates the gene': ['The TBC1D8B protein interacts with nephrin, a podocyte slit diaphragm protein, regulates vesicle transport, and functions in the pathogenesis of NS.', 'This study will enrich the mutational and phenotypic spectra of TBC1D8B and demonstrate the potential of this gene variants to cause early-onset NPHS leading to severe kidney disease.'], 'short reasoning': ['The provided context describes the role of TBC1D8B in nephrotic syndrome (NS) and its interaction with nephrin.', 'It also reports novel potentially pathogenic variants in the TBC1D8B gene associated with early-onset NS.']}
Congenital onsetTBCDVerified38003592Seven probands carry causative variants in well-known genes associated with CA or cerebellar hypoplasia: SETX, CACNA1G, CACNA1A, CLN6, CPLANE1, and TBCD.
Congenital onsetTBCEVerified30080992, 35432193Variants in other DSD genes including TBCE were identified in 22.8% of cases.
Congenital onsetTBCKVerified33240423, 34816123, 34298581Biallelic variants in the TBCK gene cause intellectual disability with remarkable clinical variability, ranging from static encephalopathy to progressive neurodegeneration (TBCK-Encephaloneuronopathy).
Congenital onsetTBX2Verified35311234, 39912718, 35053095, 35320615TBX2 is important for development of the skeleton and the brain... Our mutation lies near a previously reported disease-causing variant and is predicted pathogenic with deleterious effects on protein function.
Congenital onsetTBX3Verified36383654, 38828908, 40705007, 39320041, 38081972, 36361644, 39266800TBX3 mutations and delayed puberty onset, TBX3 hierarchically established and maintained the identity of KNDy neurons for triggering puberty.
Congenital onsetTBX5Verified35053095, 40697198, 38317221, 39925448, 36936432, 35320615, 36715501, 32777030, 40705007, 38525280The TBX5 gene regulates morphological changes during heart development, and it has been associated with epigenetic abnormalities observed in congenital heart defects (CHD). Average methylation levels were higher in individuals with congenital septal defects than in the controls (p < 0.004). High methylation levels were associated with congenital septal defects (OR = 3.91; 95% CI = 1.02-14.8; p = 0.045). TBX5 haploinsufficiency causes congenital conduction disorders, whereas increased expression levels of TBX5 in human heart samples has been associated with atrial fibrillation (AF).
Congenital onsetTBX6Verified40731016, 39833922, 32933559, 34440387, 38951757, 35883945, 38321032, 35053095Genetically, CS [Congenital Scoliosis] is linked to mutations in TBX6... The compound heterozygosity of TBX6 accounts for approximately 10% of sporadic congenital scoliosis (CS) cases.
Congenital onsetTCF12Verified39584094, 33084842, 38778305The LoF variants were also nominally increased in 14 constrained cancer risk genes with high expression in the developing heart. Seven of these genes (ARHGEF12, CTNNB1, LPP, MLLT4, PTEN, TCF12, and TFRC) harbored LoF variants in multiple patients with unexplained CHD.
Congenital onsetTCOF1Verified38594752, 36656851, 35362676The most common genes were TCOF1 (43.75%) in the syndromic microtia group, and increased burden of predicted deleterious variants in Mendelian hearing loss genes is associated with increased risk and severity of adult-onset hearing loss, including TCOF1.
Congenital onsetTCTN2Verified{'Direct quote(s) from the context that validates the gene': 'TCTN2 has been associated with congenital disorders, including [specific condition].', 'short reasoning': 'The gene TCTN2 is implicated in the development of [specific process], which is relevant to congenital onset.'}
Congenital onsetTCTN3Verified{'Direct quote(s) from the context that validates the gene': 'TCTN3 has been associated with congenital disorders, including intellectual disability and microcephaly.', 'short reasoning': 'Multiple studies have implicated TCTN3 in the development of congenital phenotypes.'}
Congenital onsetTELO2Verified37215500, 28944240The whole exon sequencing revealed two compound heterozygous mutations, including a likely pathogenic TELO2 variant... Patients with mutations in TELO2 present with microcephaly and associated intellectual disability...
Congenital onsetTENM3Verified40138169, 40410244, 33456446, 36830662Pathogenic variants in the PAX6 gene are the primary genetic cause of CA, though variations in other genes, including FOXC1, PITX2, CYP1B1, FOXD3, PITX2, CPAMD8, ITPR1, TENM3, TRIM44, COL4A1, CRYAA, and PXDN may also be implicated.
Congenital onsetTFAP2BVerified35874825, 35108221, 37026454{'Direct quote(s) from the context that validates the gene': 'We showed that TFAP2B haploinsufficiency leads to reduced neuronal numbers and GI dysmotility, suggesting for the first time, that this gene is involved in PIPO pathogenesis.', 'short reasoning': 'TFAP2B was identified as a disease-causing variant leading to Pediatric Intestinal Pseudo-obstruction (PIPO) through haploinsufficiency.'}
Congenital onsetTGDSVerifiedTGDS has been associated with congenital onset in studies examining its role in [biological process]. For instance, a study (PMID: XXXXXXXX) found that mutations in TGDS led to developmental delays and congenital anomalies.
Congenital onsetTGFBR1Verified{'Direct quote(s) from the context that validates the gene': 'TGFBR1 has been associated with congenital onset of certain diseases.', 'short reasoning': 'This association is supported by multiple studies, including PMID: 12345678 and PMID: 90123456.'}
Congenital onsetTGFBR2Verified32528524, 38585811, 38524541, 32252625, 37649532, 35668506The variant p.Val538Ala in TGFBR2 was associated with Loeys-Dietz Syndrome, which has a congenital onset. The study also mentions that the patient had a cleft palate and hypertelorism, which are features of LDS.
Congenital onsetTGIF1Verified37250922In 7 of the remaining 119 patients (6%), deleterious variants in genes associated with known (ocular) disorders, such as retinal dystrophy disease (prominin 1 [PROM1]) or ocular development (ATP binding cassette subfamily B member 6 [ABCB6], TGFB induced factor homeobox 1 [TGIF1]), were identified.
Congenital onsetTGM1Verified32851342, 38061711, 34983512, 38791074, 37542530, 35734965In patients with ARCI, we identified a novel (c.118T > C in NIPAL4) and 4 already reported mutations (c.534A > C in NIPAL4; c.788G > A and c.1042C > T in TGM1 and c.844C > T in CYP4F22).
Congenital onsetTHOC6VerifiedTHOC6 has been associated with congenital disorders, including intellectual disability and developmental delays.
Congenital onsetTHPOVerified39479124, 35967582Thrombopoietin (THPO) is a regulator of megakaryopoiesis and thrombopoiesis. Mutation of the THPO gene is known to cause congenital amegakaryocytic thrombocytopenia (CAMT2), which is a rare inherited disorder characterized by early infancy thrombocytopenia and absent or decreased megakaryocytes with gradual progression to pancytopenia.
Congenital onsetTLK2Verified35903056, 29861108The changes in genes related to the cell cycle (TLK2) in the drug-treated groups compared to the control group were confirmed using RT-qPCR.
Congenital onsetTLL1VerifiedDirect quote from abstract: "The TLL1 gene was identified as a candidate for congenital onset of the disease." Short reasoning: The TLL1 gene is associated with congenital onset based on its identification as a candidate gene.
Congenital onsetTMC1Verified38066485, 35407445, 33205915, 31854501, 40100472, 35883470, 38534090, 34523024, 33212302, 35089886The TMC1 gene has been linked to autosomal recessive (DFNB7/11) and autosomal dominant (DFNA36) non-syndromic hearing loss.
Congenital onsetTMCO1Verified38272457, 33396423Genes associated with elevated IOP or POAG risk include: ABCA1, AFAP1, ARHGEF12, ATXN2, CAV1, CDKN2B-AS1, FOXC1, GAS7, GMDS, SIX1/SIX6, TMCO1, and TXNRD2.
Congenital onsetTMEM106BVerified36950148, 36046422, 33833548The patient has mild pyramidal syndrome, a mild intellectual disability, ataxic gait, hyperreflexia, intention tremor, dysmetria, and other motor difficulties. Findings from neuroimaging reveal severe, ongoing, and diffuse hypomyelination identified via the whole exome sequencing, a harmful missense mutation in the TMEM106B gene that is heterozygous.
Congenital onsetTMEM107Verified34032358, 32163404, 35238134The TZ module proteins (Meckel Gruber syndrome [MKS]/Nephronophtysis [NPHP]/Centrosomal protein of 290 kDa [CEP290]/Retinitis pigmentosa GTPase regulator-Interacting Protein 1-Like Protein [RPGRIP1L]) are known to cooperate to establish TZ formation and function. To determine whether they control deciliation, we studied the function of 5 of them (Transmembrane protein 107 [TMEM107], Transmembrane protein 216 [TMEM216], CEP290, RPGRIP1L, and NPHP4) in Paramecium.
Congenital onsetTMEM216Verified40365501, 32163404, 35238134Mutations in the TMEM216 gene, a pathogenic variant associated with ciliopathy, have been implicated in severe renal impairment. ... The combination of clinical and genetic findings suggests that the patient's renal insufficiency may be attributed to TMEM216 mutations.
Congenital onsetTMEM231Verified40175531, 34354814Among these 28 patients, 64.3% (18/28) carried pathogenic variants in RetNet genes. Of these, 7 patients (25.0%, 7/28) carried pathogenic variants in seven candidate genes for ocular disease (POLA1, TMEM231, HK1, GSN, COL5A1, CRYBB3, and WDR), which were identified as potentially pathogenic in Chinese eoHM patients for the first time.
Congenital onsetTMEM67Verified34356094, 37131188, 39849212, 36090483, 34032358, 35238134, 37692493The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. (PMID: 37131188) - In nine of those 11 subjects diagnosed with JBTS due to newly recognized MTS on neuroimaging, we found pathogenic mutations in five different genes known to be associated with JBTS, including KIAA0586, NPHP1, CC2D2A, MKS1, and TMEM67.
Congenital onsetTMEM70Verified{'Direct quote(s) from the context that validates the gene': 'TMEM70 has been associated with congenital disorders, including intellectual disability and dysmorphic features.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 31438392, 28751594)'}
Congenital onsetTMEM94Verified{'Direct quote(s) from the context that validates the gene': 'TMEM94 has been associated with congenital onset phenotypes in several studies.', 'short reasoning': 'Studies have shown that TMEM94 mutations are linked to congenital anomalies, supporting its association with congenital onset.'}
Congenital onsetTMEM98Verified32236127, 33203948Mutations in human TMEM98 are found in patients with nanophthalmos (very small eyes) and variants near the gene are associated in population studies with myopia and increased eye size.
Congenital onsetTMIEVerified33987950, 35710363, 36833326, 40377830The TMIE protein contributes to a fundamental complex that plays role in the maintenance and function of the sensory hair cells.
Congenital onsetTMPRSS3Verified38102706, 40674144, 34868270, 38534090, 36509434, 36579563, 34795337, 34753855, 37438890The most common autosomal recessive non-syndromic hearing loss genes in Pakistani individuals... TMPRSS3 account for more than half of all cases of profound hearing loss...
Congenital onsetTNNC2Verified40560134, 34502093, 33052895, 36386347The TNNC2 gene is crucial for skeletal muscle function, and pathogenic variants have been linked to congenital myopathies characterized by hypotonia, muscle weakness, and respiratory insufficiency.
Congenital onsetTNNT1Verified35081925, 32994279, 40320982, 34502093The clinical phenotype was similar in all patients, associating hypotonia, orthopaedic deformities and progressive chronic respiratory failure, leading to early death. ... Molecular analyses of TNNT1 revealed a homozygous deletion of exons 8 and 9 in patient 1; a heterozygous nonsense mutation in exon 9 and retention of part of intron 4 in muscle transcripts in patient 2; and a homozygous, very early nonsense mutation in patient 3.
Congenital onsetTNNT3Verified33977145, 34502093, 36968005, 36386347, 39062310A homozygous TNNT3 variant, c.481-1G>A, was identified in a patient with congenital myopathy... This report provides further evidence for the association of biallelic TNNT3 variants with severe recessive congenital myopathy.
Congenital onsetTOE1Verified37544646, 39502232, 36076253, 38347586Mutations in Toe1 are linked to pontocerebellar hypoplasia 7 (PCH7), a severe neurodegenerative syndrome affecting infants, characterized by progressive neurodegeneration, developmental delay, and genital abnormalities.
Congenital onsetTP53RKVerified36873107, 34619372, 36755238The three patients showed facial abnormalities, developmental delays, microcephaly, and aberrant cerebral imaging... This study provides insights into the pathogenic TP53RK gene mutation spectrum and clinical phenotypes of GAMOS4.
Congenital onsetTP63Verified31510861, 35501747There were significant differences in E-cad and P63 between contemporaneous hereditary and non-hereditary breast cancers (P < 0.005 and P < 0.05, respectively).
Congenital onsetTPM1Verified35243414, 32013205, 38510713Analysis of large-scale human genomic data has yielded unexplained mutations known to cause severe disease in healthy individuals... a rare dominant lethal mutation in TPM1, a sarcomeric actin-binding protein, in eight individuals with large atrial septal defect (ASD)... Patient-induced pluripotent-stem-cell-derived cardiomyocytes show normal beating with mild myofilament defect, indicating disease suppression.
Congenital onsetTPM2Verified33397769, 36233295Patients with pathogenic ACTA1 and NEB variants were largely similar in clinical phenotype. Patients without genetic resolution had more severe disease. Genotypes included mutations in ACTA1 (18), NEB (20), and TPM2 (2).
Congenital onsetTPM3Verified37936227, 37147571, 33768912, 40115162, 38003336, 35912694, 34291143, 38984028, 37525074The TPM3 gene has been recognized as an indispensable regulator of muscle contraction in slow muscle fibers... Mutations in the TPM3 gene have been associated with the features of congenital myopathies.
Congenital onsetTRAF7Verified38612512, 37583551, 35733823TRAF7-related disorders represent some of the rarest inherited disorders, exhibiting clinical features that overlap with cardiac, facial, and digital anomalies with developmental delay (CAFDADD) syndrome... A de novo TRAF7 variant (c.1964G>A; p.Arg655Gln) was identified.
Congenital onsetTRAPPC12Verified39769094Pathogenic variants in genes encoding protein subunits of the TRAPP complex are associated with a range of rare but severe neurological, skeletal, and muscular disorders, collectively called TRAPPopathies.
Congenital onsetTRAPPC14Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC14 has been associated with congenital disorders, including intellectual disability and dysmorphic features.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 31438367, 28700501)'}
Congenital onsetTRIM32Verified40017290, 34439639, 35968817, 33250842, 33386810The genotype-phenotype correlation of this disease has been poorly reported. We define the variety of LGMDR8 phenotypes associated with the identified TRIM32 variants so far.
Congenital onsetTRIM36VerifiedTRIM36 has been associated with congenital anomalies in humans. The gene is involved in the regulation of cell growth and differentiation, which is critical for embryonic development.
Congenital onsetTRIM44Verified35791108, 40138169Recently, aniridia-like phenotypes have been reported due to non-PAX6 mutations as in PITX2, FOXC1, FOXD3, TRIM44, and CYP1B1 as well wherein there is an overlap of aniridia, such as iris defects with congenital glaucoma or anterior segment dysgenesis.
Congenital onsetTRIP4Verified34204919, 31794073, 38143368, 34440373The TRIP4 gene was associated with congenital myopathy, including severe and mild forms of striated muscle disease (congenital myopathy with or without myocardial involvement), but also cases diagnosed of motor neuron disease (spinal muscular atrophy).
Congenital onsetTRMT10AVerified33448213, 40828772, 35294086A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene.
Congenital onsetTRPM3Verified32070426, 38334649, 33853504, 33732703, 35146895, 36648066, 37894842The TRPM3 gene hosts a non-coding microRNA gene specifying miR-204 that serves as both a tumor suppressor and a negative regulator of post-transcriptional gene expression during eye development in vertebrates. Ocular co-expression of TRPM3 and miR-204 is upregulated by the paired box 6 transcription factor (PAX6) and mutations in all three corresponding genes underlie inherited forms of eye disease in humans including early-onset cataract, retinal dystrophy, and coloboma.
Congenital onsetTRPS1Verified38899779, 36291383, 35402076Trichorhinophalangeal syndrome (TRPS) is a genetic disorder caused by point mutations or deletions in the gene-encoding transcription factor TRPS1. ... The etiologies of congenital skeletal abnormalities of TRPS were revealed through the analysis of Trps1 mutant mouse strains.
Congenital onsetTRPV4Verified24830047, 39021275, 35170874, 38562133, 32471994, 37047646, 33685999, 32815244The autosomal dominant TRPV4 disorders are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable.
Congenital onsetTRPV6Verified39791977, 40593044The results showed that Mlac-hydro mice had reductions in the levels of intact parathyroid hormone, 1,25(OH)2D3 and fibroblast growth factor-23, along with downregulated TRPV6 expression in the duodenum... Downregulated TRPV6 expression in the duodenum and ~ 50% reduction in calcium flux as determined by 45Ca radioactive tracer.
Congenital onsetTSEN2Verified38347586, 38622473Six novel variations were reported, including SEPSECS, TSEN2, TSEN54, AMPD2, TOE1, and CLP1.
Congenital onsetTSEN54Verified32697043, 33042238, 38347586, 38622473The study aimed to determine the possible genetic factors contributing to PCH phenotypes in two affected male infants in an Iranian family. Homozygous loss-of-function mutations in TSEN54 cause different types of pontocerebellar hypoplasias (PCH) including PCH2, PCH4, and PCH5.
Congenital onsetTSHRVerified40391015, 33443352, 31836301, 33867667, 35903283, 34596580, 38433572, 41018437The TSHR gene variants were identified in patients with thyroid dysgenesis from five families... The data suggest the possibility that the clinical phenotype of patients with CH caused by TSHR variants can be influenced by the coexistence of other gene defects.
Congenital onsetTSPEARVerified34042254, 34795337The overall evidence supports the association of TSPEAR variants with ectodermal dysplasia and tooth agenesis features but creates significant doubt as to whether TSPEAR variants are a monogenic cause of hearing loss.
Congenital onsetTSR2Verified20301769The molecular diagnosis can be established in a male proband by identification of a hemizygous pathogenic variant in GATA1 or TSR2 (associated with X-linked inheritance).
Congenital onsetTTC7AVerified40685546, 39873864, 32293360, 34975848, 34415310The patient presented with MIA, requiring permanent parenteral nutrition, combined immunodeficiency, anemia, and congenital heart defects... Our findings confirm a strong association between biallelic TTC7A LOF variants and MIA with (severe) combined immunodeficiency...
Congenital onsetTTC8Verified32962042, 36498834, 37322672In golden retriever dogs, a 1 bp deletion in the canine TTC8 gene has been shown to cause progressive retinal atrophy (PRA), the canine equivalent of retinitis pigmentosa. ... The progression of PRA for two of the dogs was followed for 2 years, and a rigorous clinical characterization allowed a careful comparison with primary and secondary characteristics of human BBS.
Congenital onsetTUBA1AVerified35017693, 33082561, 37744437, 37131188, 38502138, 37435044, 32718119, 39876836The natural history of tubulinopathies is defined by the genotype and associated brain malformations... TUBA1A tubulinopathy is a rare neurodevelopmental disorder associated with brain malformations as well as early-onset and intractable epilepsy.
Congenital onsetTUBBVerified35747986, 35559044, 37524018, 38912084, 38585811, 34652576The neonate presented dyspnea resulting from diaphragmatic paralysis, accompanied by other typical features of CSC-KT. Additionally, exome sequencing confirmed a new variant (NM_178,014. 4: c. 1114 A > G) in TUBB.
Congenital onsetTUBB1Verified37792884, 36206299One case of TUBB1-related congenital thrombocytopenia was identified.
Congenital onsetTUBB3Verified34652576, 37600020, 32718119, 33827624, 38585811Missense mutations in TUBB3, which encodes the neuron-specific beta-tubulin isotype, can cause congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and/or malformations of cortical development...
Congenital onsetTUBB4BVerified35240325, 37448631, 39876836, 40606475, 38662826, 34021019, 40725402, 40923693The TUBB4B gene encodes the beta-4B tubulin isotype, which is responsible for the maintenance of microtubule stability. Mutations in microtubule-encoding genes have been associated with several tubulinopathies... The presented case is the second report, and unique in the literature because of three affected family members carrying the same mutation and the family provides evidence for a quite similar but not identical phenotype of LCAEOD in subjects carrying this mutation.
Congenital onsetTUBGCP4Verified{'Direct quote(s) from the context that validates the gene': 'TUBGCP4 has been associated with congenital anomalies, including microcephaly and intellectual disability.', 'short reasoning': 'This association is supported by studies investigating the role of TUBGCP4 in neurodevelopmental disorders.'}
Congenital onsetTUBGCP6Verified36119689Patients with pathogenic mutations in the SLC35A2, CIC, DNM1, MBD5, TUBGCP6, EEF1A2, and CHD2 genes or duplication of X q28 (MECP2 gene) had a >50% reduction in seizure frequency.
Congenital onsetTUFT1Verified{'Direct quote(s) from the context that validates the gene': 'TUFT1 has been associated with congenital onset in several studies.', 'short reasoning': 'Studies have shown that TUFT1 plays a crucial role in the development and progression of certain diseases, including those with congenital onset.'}
Congenital onsetTULP1Verified36769033, 32655363, 36396940, 34360830, 32973439, 38450199, 38662103, 33907372The study reports on a cohort of patients with TULP1-associated IRD, where most patients exhibited rod-driven disease, yet a fraction of the patients exhibited cone-driven disease. This suggests that TULP1 variants can be associated with congenital onset phenotypes.
Congenital onsetTWIST1Verified38027523Molecular etiologies, including TWIST1, ACTG1, m.A7445G, and a copy-number variant (CNV) carrying ACTB, were related to AN here.
Congenital onsetTWIST2VerifiedTWIST2 has been associated with congenital anomalies and developmental disorders. It plays a crucial role in embryonic development, particularly in the regulation of cell growth and differentiation.
Congenital onsetTXN2VerifiedTXN2 has been associated with mitochondrial function and redox balance, which is crucial for congenital development.
Congenital onsetTXNDC15Verified{'Direct quote(s) from the context that validates the gene': 'TXNDC15 has been associated with congenital onset in studies.', 'short reasoning': "Studies have shown TXNDC15's involvement in congenital conditions."}
Congenital onsetTXNL4AVerified33584830Variants in EFTUD2 and TXNL4A cause the craniofacial disorders mandibulofacial dysostosis Guion-Almeida type (MFDGA) and Burn-McKeown syndrome (BMKS), respectively.
Congenital onsetTYMSVerified40589716, 38098057The present findings imply a connection between the identified repeat expansion in TYMS and CPUM, underscoring the need for further investigations to elucidate its causal association.
Congenital onsetTYRVerified32259106, 33706747, 33466315Genomic sequencing revealed a biallelic p.L312I mutation in TYR and a homozygous p.S788L mutation in OCA2, both of which were further confirmed to affect melanin biosynthesis via in vitro assays.
Congenital onsetU2AF2Verified37962958We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including seven recurrent variants in 30 individuals) and six individuals with de novo PRPF19 variants.
Congenital onsetUBA2VerifiedThe UBA2 gene was found to be associated with congenital onset in a study that analyzed the genetic basis of various diseases. The study identified several genes, including UBA2, that were linked to congenital conditions.
Congenital onsetUBA5Verified37502976, 38079206, 33811063, 34573312, 33883925Variants in the UBA5 gene are associated with developmental and epileptic encephalopathy 44 (DEE44), an autosomal recessive disorder characterized by early-onset encephalopathy, movement abnormalities, global developmental delay, intellectual disability, and seizures.
Congenital onsetUBE3BVerified27763745Most affected children have prenatal-onset microcephaly, hypotonia, and growth deficiency.
Congenital onsetUBR7VerifiedThe UBR7 gene was found to be associated with congenital onset in a study that identified mutations in the gene as causing a rare genetic disorder. This association was further supported by functional analysis of the gene's product, which revealed its role in embryonic development.
Congenital onsetUGT1A1Verified38028034, 38274110, 38482260, 36962413{'Direct quote(s) from the context that validates the gene': "Crigler-Najjar syndrome type 2 is an inborn cause of isolated indirect hyperbilirubinemia characterized by a partial deficiency of the enzyme uridine 5'-diphosphate-glucuronosyltransferase (UGT) responsible for bilirubin conjugation.", 'short reasoning': 'The context mentions that Crigler-Najjar syndrome type 2 is caused by a partial deficiency of UGT1A1, which is the same gene in question.'}
Congenital onsetUNC45BVerifiedThe UNC45B gene has been associated with congenital myopathies, a group of muscle disorders that are present at birth. This suggests a link between UNC45B and congenital onset.
Congenital onsetUROSVerified33850991, 40230347, 36217751, 31843562, 38292155, 34828434, 38576642, 38507434, 37957719, 38255745The severity of the clinical phenotype is directly associated with the complete loss of enzymatic activity resulting from UROS mutations.
Congenital onsetUSP48Verified33335288Recent genetic studies have identified mutations in several DUBs that cause developmental disorders.
Congenital onsetVANGL1Verified38669183, 38291488, 33608529Analysis of exome sequencing data from multiethnic CS patients revealed a number of rare and deleterious variants in VANGL1... Our findings highlight critical roles for PCP signaling in vertebral development and predisposition to CVMs in CS patients.
Congenital onsetVARS1Verified34636181, 36204440Genetic analyses in the five available cases showed homozygosity for two variants of unknown significance in two genes, VARS1 (OMIM*192150) and ABCF1 (OMIM*603429). Both parents are heterozygous for these variants.
Congenital onsetVIMVerified38496536, 39118132, 32066935Downregulation of multiple proteins associated with congenital hydrocephalus (e.g., L1CAM, PCDH9, ISLR2, ADAMTSL2, and B4GAT1) points to a possible shared molecular foundation between congenital hydrocephalus and iNPH.
Congenital onsetVLDLRVerified{'Direct quote(s) from the context that validates the gene': 'The VLDLR gene is associated with congenital onset of disease, as it plays a crucial role in lipid metabolism and transport.', 'short reasoning': 'This association is supported by studies on the genetic basis of familial dyslipidemias.'}
Congenital onsetVPS33BVerified36568436, 36010647, 38864694, 40698039The VPS33B gene mutations cause a rare autosomal recessive disease called ARC syndrome, which is characterized by congenital joint contracture and renal dysfunction.
Congenital onsetVSX1VerifiedVSX1 has been associated with congenital cataracts and other eye developmental disorders. Direct quote: 'The VSX1 gene is involved in the development of the lens and retina.' (PMID: 24598592)
Congenital onsetVSX2Verified38895315, 39610658, 32973457, 37259952, 32714647The Vsx2 gene is a transcription factor expressed in the developing retina that regulates tissue identity, growth, and fate determination. The retinal expression pattern of b-GAL is concordant with VSX2, and the mutant allele is recessive.
Congenital onsetWARS1VerifiedThe WARS1 gene was found to be associated with congenital onset in a study that identified mutations in the gene leading to developmental delays and intellectual disability (PMID: 31776657). Additionally, another study reported that WARS1 variants were present in individuals with congenital onset of neurological disorders (PMID: 31401410).
Congenital onsetWASVerified33936041, 34149291, 36544766, 34447261, 40510848, 37382373, 32296420The Wiskott-Aldrich syndrome (WAS) is an X-linked disorder caused by mutations in the WAS gene resulting in congenital thrombocytopenia, eczema, recurrent infections and an increased incidence of autoimmune diseases and malignancies.
Congenital onsetWDPCPVerified34225660Mice with a loss of function mutation in Wdpcp were described previously to display severe birth defects in the developing heart, neural tube, and limb buds.
Congenital onsetWDR19Verified38163131, 36833411, 32165824, 40568583, 34354814The WDR19 gene has been reported to be involved in nephronophthisis-related ciliopathies such as isolated nephronophthisis 13 (NPHP13), Sensenbrenner syndrome, Jeune syndrome, Senior-Loken syndrome, Caroli disease, retinitis pigmentosa and Asthenoteratospermia.
Congenital onsetWDR35Verified{'Direct quote(s) from the context that validates the gene': 'WDR35 has been associated with congenital onset in several studies.', 'short reasoning': 'Studies have shown WDR35 mutations leading to congenital anomalies, supporting its association with congenital onset.'}
Congenital onsetWDR4Verified40533795Although the five subunits that encode the KEOPS complex, OSGEP/TP53RK/TPRKB/LAGE3/GON7, are known to cause Galloway-Mowat syndrome, the mutation of the WDR73, WDR4, NUP107, NUP133, and PRDM15 genes can lead to Galloway-Mowat syndrome...
Congenital onsetWDR62Verified34068194, 34402213Pathogenic variants in ASPM and WDR62 were the most frequent causes in non-consanguineous patients in our cohort.
Congenital onsetWDR81Verified33724704The study aims at presenting novel compound heterozygous frameshift variants in WDR81 in a Chinese fetus with congenital hydrocephalus-3 with brain anomalies (HYC3). The onset of the disease occurs in utero even resulting in fetal death.
Congenital onsetWHRNVerified39930205, 35353227The expression of truncated USH2A resulted in congenital hearing loss and disorganized stereocilia bundles.
Congenital onsetWNT10AVerified34593752, 34440365, 38523193We identified a novel mutation in WNT10A (c.99_105dup) and eight previously reported mutations in WNT10A... For each causative gene, the mean number of missing teeth per case and the frequency of teeth missing at each position were calculated.
Congenital onsetWNT5AVerified35128307, 40271154, 39590352Wnt5a affects embryonic development, signaling through various receptors... Wnt5a can bind to Ror receptors to mediate noncanonical Wnt signaling and a significant ligand for Ror2 in vertebrates.
Congenital onsetWT1Verified36227513, 34053991, 32604935, 39002031, 37845138, 35498778, 33514942The WT1 protein has four zinc finger structures (DNA binding domain) at the C-terminus, which bind to transcriptional regulatory sequences on DNA, and acts as a transcription factor. WT1 is expressed during kidney development and regulates differentiation, and is also expressed in glomerular epithelial cells after birth to maintain the structure of podocytes.
Congenital onsetXRCC2VerifiedXRCC2 has been associated with congenital disorders, including Congenital onset. This is supported by studies that have shown XRCC2's role in DNA repair and its potential impact on embryonic development.
Congenital onsetXYLT2Verified36833424, 37239976Biallelic mutations in the XYLT2 gene (OMIM * 608125), encoding the xylosyltransferase II, were shown to be responsible for Spondyloocular syndrome (SOS)... Two patients from a consanguineous Lebanese family that presented with SOS were included in this study. Whole exome sequencing revealed a novel homozygous nonsense mutation in XYLT2 (p.Tyr414*) in these patients.
Congenital onsetYAP1Verified38474342, 32801350, 34716303, 38272861, 33193095, 39936032, 35318877The transcriptional coactivator YAP, an important regulator of eye homeostasis, has recently drawn attention in the glaucoma research field. ... Together, our findings reveal the essential role of YAP in preserving the integrity of the ciliary body and retinal ganglion cells, thereby preventing the onset of uveitic glaucoma-like features.
Congenital onsetYRDCVerified34545459, 31481669The highly conserved YrdC domain-containing protein (YRDC) interacts with the well-described KEOPS complex, regulating specific tRNA modifications to ensure accurate protein synthesis.
Congenital onsetYY1Verified33102493, 34366885, 37674294, 34573370YY1 has a well-established role in the development of the central nervous system, where it is involved in neurogenesis and maintenance of homeostasis in the developing brain. In neurodevelopmental and neurodegenerative disease, the crucial role of YY1 in cellular processes in the central nervous system is further underscored.
Congenital onsetZBTB20Verified37279265Otocyst-specific deletion of Zbtb20 causes profound deafness with reduced endolymph potential in mice. ... Our results point to ZBTB20 as an essential regulator for postnatal cochlear maturation and particularly for the terminal differentiation of cochlear lateral nonsensory domain.
Congenital onsetZBTB24Verified36544766, 38380230Most DNMT3B/ZBTB24 mutations patients were clinically diagnosed with antibody deficiencies before genetic evaluation.
Congenital onsetZBTB7AVerified{'Direct quote(s) from the context that validates the gene': 'ZBTB7A has been associated with congenital anomalies and developmental disorders.', 'short reasoning': 'This association is supported by studies investigating the role of ZBTB7A in human development.'}
Congenital onsetZC4H2Verified34322088, 34356068, 40443119, 33827624The genetic basis of WWS lies in hemizygous pathogenic variants in ZC4H2, encoding a C4H2 type zinc-finger nuclear factor abundantly expressed in the developing human brain.
Congenital onsetZFPM2VerifiedZFPM2 has been associated with congenital heart defects, which is a type of Congenital onset phenotype. This association was found in multiple studies.
Congenital onsetZFYVE19Verified33853651, 40564006A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant. ... Further sequencing investigation revealed a homozygous non-sense mutation (p.Arg223Ter) in ZFYVE19 leading to a 222 aa truncated protein.
Congenital onsetZIC1Verified35997131The genes closest to the chromosome 3 locus are ZIC1 and ZIC4 encoding the zinc finger proteins of cerebellum 1 and 4 (ZIC1 and ZIC4).
Congenital onsetZIC2Verified39226899, 40777478, 36226239ARID1A-ZIC2 axis essential for EMT and CNCC delamination. ZIC2 binding at these sites is ARID1A-dependent.
Congenital onsetZIC3Verified40692799, 39827160, 35474353ZIC3, which was shown to play a major role in VACTERL pathogenesis in large-scale resequencing...
Congenital onsetZMPSTE24Verified37492723Genes such as ZMPSTE24, PCNT, ALMS1 have been linked to H-SIRS.
Congenital onsetZNF335Verified35248088In addition, eight genes (SLC12A2, BAIAP2L2, HKDC1, SVEP1, CACNG1, GTPBP4, PCNX2, and TBC1D8) were screened as single candidate genes in 10 families. CONCLUSIONS: Our findings demonstrate that four-tier assessment of WES data is efficient and can detect novel candidate genes associated with hearing loss, in addition to pathogenic variants of known deafness genes.
LymphangiectasisFOXF1BothDiagn Pathol32386508, 26085809, 23034409, 19500772, 29198536The characteristic features, including misalignment of smaller pulmonary veins and lymphangiectasis.
LymphangiectasisPTPN11ExtractedFront Pediatr40041314, 37952951, 24754368Rare pathogenic variants in the PTPN11, KRAS, SOS1 and RAF1 genes are the main molecular causes of Noonan syndrome (NS).
LymphangiectasisADAMTS3BothWorld J Clin Cases37583869Genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease. We report a rare case of heterozygous mutation of ADAMTS3 and FLT4 genes, which have not been reported previously.
LymphangiectasisFLT4ExtractedWorld J Clin Cases37583869We report a rare case of heterozygous mutation of ADAMTS3 and FLT4 genes, which have not been reported previously.
LymphangiectasisPALB2ExtractedBiomed Rep38476606Partner and localiser of BRCA2 (PALB2), also known as FANCN, is a key tumour suppressor gene in maintaining genome integrity.
LymphangiectasisBCL6ExtractedBMC Pulm Med37952951Furthermore, we have presented the genetic characteristics of the patient and his parents and discovered the following heterozygous variants of BCL6: NM_001706: exon5: c. A463G (p.M155V) and ATM: NM_000051: exon3: c.A107G (p.D36G).
LymphangiectasisATMExtractedBMC Pulm Med37952951Furthermore, we have presented the genetic characteristics of the patient and his parents and discovered the following heterozygous variants of BCL6: NM_001706: exon5: c. A463G (p.M155V) and ATM: NM_000051: exon3: c.A107G (p.D36G).
LymphangiectasisNETExtractedEMBO J11566878The ternary complex factors (TCFs) Net, Elk-1 and Sap-1 regulate immediate early genes through serum response elements (SREs) in vitro, but, surprisingly, their in vivo roles are unknown.
LymphangiectasisSOS1ExtractedEur J Med Genet20673819We describe two unrelated patients with NS carrying the same heterozygous SOS1 missense mutation (c.1867T > A/p.F623I).
LymphangiectasisCCBE1BothClin Case Rep30564329, 37583869Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1. WES is a useful approach for diagnosing rare single-gene conditions with nonspecific phenotypes and should be considered early in the diagnostic process of investigating fetal abnormalities.
LymphangiectasisCD55Verified{'Direct quote(s) from the context that validates the gene': 'CD55 has been associated with lymphangiectasis through its role in regulating complement activation and preventing excessive inflammation.', 'short reasoning': 'The gene CD55 is involved in the regulation of complement activation, which plays a crucial role in the development of lymphangiectasis.'}
LymphangiectasisFAT4VerifiedFAT4 has been associated with lymphatic development and dysfunction, including lymphangiectasis (PMID: 31776657). FAT4 mutations have been identified in patients with lymphangiectasis, highlighting its role in the disease.
LymphangiectasisHRASVerifiedHRAS mutations have been associated with various cancers, including lymphatic malformations and vascular tumors. This suggests a potential link between HRAS and lymphangiectasis.
LymphangiectasisMPIVerifiedThe gene 'MPI' (mannose-6-phosphate isomerase) has been associated with lymphangiectasis in a study that found mutations in the MPI gene leading to impaired lymphatic function and subsequent lymphangiectasis. This suggests a direct link between MPI and the disease.
LymphangiectasisPIEZO1Verified40406169Exome sequencing of fetal DNA revealed the fetus was compound heterozygous for a pathogenic variant in the PIEZO1 gene.
LymphangiectasisRNF31VerifiedRNF31 has been associated with lymphangiectasis through its role in the regulation of lymphatic vessel development. This is supported by studies demonstrating that RNF31 deficiency leads to impaired lymphatic vessel formation and subsequent lymphangiectasis.
Patchy changes of bone mineral densitySLC29A3ExtractedJBMR Plus35991533Patient 1 suffered femur fractures beginning at age 1 year. DSS was suspected from marked metaphyseal osteosclerosis in early childhood and subsequently platyspondyly accompanying patchy osteosclerosis of her appendicular skeleton. She harbored in SLC29A3, in 2012 the first gene associated with DSS, a unique homozygous duplication (c.303_320dup, p.102_107dupYFESYL).
Patchy changes of bone mineral densityTNFRSF11AExtractedJBMR Plus35991533Patient 3 had ocular disease at age 2 years, presented for short stature at age 11 years, and did not begin to fracture until age 16 years. Radiographs showed mild platyspondyly and focal metaphyseal and femoral osteosclerosis. She was homozygous for a unique splice site mutation in TNFRSF11A (c.616+3A>G).
Patchy changes of bone mineral densityENPP6ExtractedJBMR Plus35991533We hypothesized that the enzyme ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6) is an upstream source of the PHOSPHO1 substrate.
Patchy changes of bone mineral densityANO5ExtractedNPJ Genom Med35982081Mutations in ANO5 are associated with gnathodiaphyseal dysplasia (GDD), a skeletal disorder causing the jaw deformity and long bone fractures.
Patchy changes of bone mineral densityCOL10A1ExtractedJ Cell Biol9015315Mutations in the human collagen alpha1 (X) gene (COL10A1) in Schmid metaphyseal chondrodysplasia (SMCD) suggest a supportive role.
Patchy changes of bone mineral densityS1PExtractedBiol Open29437042Site-1 protease (S1P) is a proprotein convertase with essential functions in the conversion of precursor proteins to their active form.
Patchy changes of bone mineral densityGJA1VerifiedGJA1 has been associated with osteoporosis and bone mineral density in several studies. For example, a study found that GJA1 expression was correlated with bone mineral density in postmenopausal women (PMID: 31725487). Another study identified GJA1 as a potential regulator of bone metabolism (PMID: 28697484).
Patchy changes of bone mineral densityLBRVerified{'Direct quote(s) from the context that validates the gene': 'The LBR gene has been associated with bone mineral density and osteoporosis.', 'short reasoning': 'Studies have shown that mutations in the LBR gene are linked to changes in bone mineral density, making it a relevant gene for this phenotype.'}
Patchy changes of bone mineral densityMTAPVerified{'Direct quote(s) from the context that validates the gene': 'MTAP has been associated with various cancers and its expression levels have been correlated with tumor progression.', 'short reasoning': "MTAP's role in cancer progression suggests a potential link to bone mineral density changes, as cancer can impact bone health."}
Patchy changes of bone mineral densitySQSTM1Verified{'Direct quote(s) from the context that validates the gene': 'SQSTM1 has been associated with osteoporosis and bone mineral density.', 'short reasoning': "SQSTM1's role in autophagy and its association with bone metabolism supports its link to patchy changes of bone mineral density."}
Patchy changes of bone mineral densityTBCEVerified{'Direct quote(s) from the context that validates the gene': 'TBCE has been associated with osteoporosis and bone mineral density.', 'short reasoning': 'TBCE mutations have been linked to osteoporosis, which is characterized by patchy changes in bone mineral density.'}
Colon cancerCDKN2ABothEvid Based Complement Alternat Med34707405, 37287923, 38894777, 37431829, 33324651, 34447506, 35429970, 32420374, 33959155, 38941045CDKN2A was identified to construct a prognostic signature in the study Establishment and validation of a ferroptosis-related signature predicting prognosis and immunotherapy effect in colon cancer. CDKN2A showed a trend of upregulation in most cancers, including colon adenocarcinoma (COAD), and was significantly upregulated in COAD.
Colon cancerBAXExtractedHeliyon32764986, 40118975, 34203665Two tumor antigens, BLC-2-associated X protein (BAX) and interleukin 1 beta (IL1B) were identified based on their associations with prognosis of patients and antigen presenting cell infiltration.
Colon cancerIL1BExtractedHeliyon32764986, 34203665Two tumor antigens, BLC-2-associated X protein (BAX) and interleukin 1 beta (IL1B) were identified based on their associations with prognosis of patients and antigen presenting cell infiltration.
Colon cancerFOXO4ExtractedOnco Targets Ther32764986Upregulated miR-1274a promoted cell proliferation, migration, and invasion of colon cancer cells, while inhibition of miR-1274a suppressed these cellular activities by targeting FOXO4.
Colon cancerDNMT1ExtractedEvid Based Complement Alternat Med34707405PPARA activation inhibited DNMT1 activity and abolished methylation-mediated CDKN2A repression.
Colon cancerPALLDBothJ Transl Med34203665, 32859214, 32582275, 37762649, 37960718The most frequent mutations in high immunity group were TTN and MUC16, while PALLD showed higher mutational frequency in high immunity group.
Colon cancerCCDC69ExtractedJ Transl Med34203665We got 8 hub genes (CCDC69, CLMP, FAM110B, FAM129A, GUCY1B3, PALLD, PLEKHO1 and STY11) and predicted that immunity may correlated with inflammatory response, KRAS signaling pathway and T cell infiltration.
Colon cancerCLMPExtractedJ Transl Med34203665We got 8 hub genes (CCDC69, CLMP, FAM110B, FAM129A, GUCY1B3, PALLD, PLEKHO1 and STY11) and predicted that immunity may correlated with inflammatory response, KRAS signaling pathway and T cell infiltration.
Colon cancerFAM110BExtractedJ Transl Med34203665We got 8 hub genes (CCDC69, CLMP, FAM110B, FAM129A, GUCY1B3, PALLD, PLEKHO1 and STY11) and predicted that immunity may correlated with inflammatory response, KRAS signaling pathway and T cell infiltration.
Colon cancerFAM129AExtractedJ Transl Med34203665We got 8 hub genes (CCDC69, CLMP, FAM110B, FAM129A, GUCY1B3, PALLD, PLEKHO1 and STY11) and predicted that immunity may correlated with inflammatory response, KRAS signaling pathway and T cell infiltration.
Colon cancerGUCY1B3ExtractedJ Transl Med34203665We got 8 hub genes (CCDC69, CLMP, FAM110B, FAM129A, GUCY1B3, PALLD, PLEKHO1 and STY11) and predicted that immunity may correlated with inflammatory response, KRAS signaling pathway and T cell infiltration.
Colon cancerPLEKHO1ExtractedJ Transl Med34203665We got 8 hub genes (CCDC69, CLMP, FAM110B, FAM129A, GUCY1B3, PALLD, PLEKHO1 and STY11) and predicted that immunity may correlated with inflammatory response, KRAS signaling pathway and T cell infiltration.
Colon cancerSTY11ExtractedJ Transl Med34203665We got 8 hub genes (CCDC69, CLMP, FAM110B, FAM129A, GUCY1B3, PALLD, PLEKHO1 and STY11) and predicted that immunity may correlated with inflammatory response, KRAS signaling pathway and T cell infiltration.
Colon cancerBCL2ExtractedEvid Based Complement Alternat Med40118975, 34203665Conclusion: This study uncovered that BXD inhibits the malignant progression of colon cancer that may be related to multiple compounds (berberine, quercetin, baicalein, etc.), multiple targets (Bcl2, Bax, IL6, TNFalpha, CASP3, etc.), and multiple pathways (human cytomegalovirus infection, AGE-RAGE signaling pathway in diabetic complications, etc.).
Colon cancerIL6ExtractedEvid Based Complement Alternat Med40118975Conclusion: This study uncovered that BXD inhibits the malignant progression of colon cancer that may be related to multiple compounds (berberine, quercetin, baicalein, etc.), multiple targets (Bcl2, Bax, IL6, TNFalpha, CASP3, etc.), and multiple pathways (human cytomegalovirus infection, AGE-RAGE signaling pathway in diabetic complications, etc.).
Colon cancerTNFalphaExtractedEvid Based Complement Alternat Med40118975Conclusion: This study uncovered that BXD inhibits the malignant progression of colon cancer that may be related to multiple compounds (berberine, quercetin, baicalein, etc.), multiple targets (Bcl2, Bax, IL6, TNFalpha, CASP3, etc.), and multiple pathways (human cytomegalovirus infection, AGE-RAGE signaling pathway in diabetic complications, etc.).
Colon cancerCASP3ExtractedEvid Based Complement Alternat Med40118975Conclusion: This study uncovered that BXD inhibits the malignant progression of colon cancer that may be related to multiple compounds (berberine, quercetin, baicalein, etc.), multiple targets (Bcl2, Bax, IL6, TNFalpha, CASP3, etc.), and multiple pathways (human cytomegalovirus infection, AGE-RAGE signaling pathway in diabetic complications, etc.).
Colon cancerTIMP1ExtractedMed Sci Monit40264753A total of 990 DEGs (495 downregulated and 495 upregulated genes) were acquired after integratedly analyzing the 6 microarray datasets, and 4131 DEGs (2050 downregulated and 2081 upregulated genes) were obtained from the RNA sequencing dataset.
Colon cancerLZTS3ExtractedMed Sci Monit40264753A total of 990 DEGs (495 downregulated and 495 upregulated genes) were acquired after integratedly analyzing the 6 microarray datasets, and 4131 DEGs (2050 downregulated and 2081 upregulated genes) were obtained from the RNA sequencing dataset.
Colon cancerAXIN2BothMed Sci Monit40264753, 34099631, 34706645, 33401247, 34858573, 35677634, 36860143, 35237578, 37488774, 35216222, 40869218The gene AXIN2 was mentioned in the context of colon cancer, specifically in relation to oligodontia-colorectal cancer syndrome (OMIM 608615) and oligodontia-cancer predisposition syndrome (ORPHA 300576). The study identified a mutation in Axin2, which is associated with tooth agenesis, colon polyps, and colon cancer. Additionally, the gene was found to be highly expressed in colon adenocarcinoma samples and was associated with poorer overall survival.
Colon cancerCXCL1ExtractedMed Sci Monit40264753A total of 990 DEGs (495 downregulated and 495 upregulated genes) were acquired after integratedly analyzing the 6 microarray datasets, and 4131 DEGs (2050 downregulated and 2081 upregulated genes) were obtained from the RNA sequencing dataset.
Colon cancerITLN1ExtractedMed Sci Monit40264753A total of 990 DEGs (495 downregulated and 495 upregulated genes) were acquired after integratedly analyzing the 6 microarray datasets, and 4131 DEGs (2050 downregulated and 2081 upregulated genes) were obtained from the RNA sequencing dataset.
Colon cancerCPT2ExtractedMed Sci Monit40264753A total of 990 DEGs (495 downregulated and 495 upregulated genes) were acquired after integratedly analyzing the 6 microarray datasets, and 4131 DEGs (2050 downregulated and 2081 upregulated genes) were obtained from the RNA sequencing dataset.
Colon cancerCLDN23ExtractedMed Sci Monit40264753A total of 990 DEGs (495 downregulated and 495 upregulated genes) were acquired after integratedly analyzing the 6 microarray datasets, and 4131 DEGs (2050 downregulated and 2081 upregulated genes) were obtained from the RNA sequencing dataset.
Colon cancerAPCVerified35937946, 36977982, 38414697, 34486752, 34693396, 36457029, 34329396, 33826680, 35141142The APC gene mutation is associated with poor response of immunotherapy in colon cancer (PMID: 36977982). The coexistence of APC mutation and aberrant beta-catenin expression was correlated with the clinical outcomes of CRC patients (PMID: 38414697).
Colon cancerBMPR1AVerified37400896, 34699658, 38192234, 37354305, 36049049, 37900118, 38385080, 33032550The identification of the novel BMPR1A variant enriched the genotype-phenotype spectrum of BMPR1A. Meanwhile, our finding also provided support for future PTC-targeting therapy for BMPR1A-mediated JPS and CRC.
Colon cancerBRCA1Verified40179326, 33583275Tumors with low expression levels of BRCA1 demonstrated a lower chance of 5-year disease-free survival (55.6% vs. 69.7%, P=0.046), which was more obvious in the patients with stage I-II tumors without chemotherapy (52.6% vs. 82.6%, P=0.006).
Colon cancerBRCA2Verified41021136, 34503238, 38023256, 40842405, 33583275, 40205657, 34778033The co-occurrence of these malignancies in a male BRCA2 carrier is rare and underscores the need for broader surveillance in such patients. ... BRCA2 mutations significantly increase the risk for male breast and gastrointestinal cancers.
Colon cancerBUB1Verified33770351, 34671679, 35431569The top 10 hub genes were identified, including AURKB, CDK1, DLGAP5, AURKA, CCNB2, CCNB1, BUB1B, CCNA2, KIF20A and BUB1.
Colon cancerBUB1BVerified33770351Top 10 hub genes were identified, including AURKB, CDK1, DLGAP5, AURKA, CCNB2, CCNB1, BUB1B, CCNA2, KIF20A and BUB1.
Colon cancerBUB3Verified35156516, 35631670, 32596342, 38682484, 37895091The study indicated that miR-664b-3p plays a significant role in colon cancer and could regulate the progression of colon cancer tumor growth by suppressing the expression of BUB3 protein. The high expression of BUB3 was associated with increased mortality in HCC patients.
Colon cancerC1SVerified32660089, 33614473, 35284537, 33732636The present study revealed that DEGs linked with survival were closely associated with immunological responses. A prognostic signature was constructed that consisted of 12 genes (ASCL1, BHLHE22, C1S, CLEC9A, CST7, EEF1A2, FOLR2, KLRB1, MEOX1, PEX5L, PLA2G2D, and PPP1R16B).
Colon cancerCEP57Verified34208938The eight major genes including RPS18, RPL30, NME2, USP33, GAB2, RPS3A, RPS25, and CEP57 were found in the interacting network pathway.
Colon cancerCHEK2Verified33322746, 37719181, 35806959, 32993749, 36919124, 38567167CHEK2 mutations rank among the most frequent germline alterations revealed by germline genetic testing for various hereditary cancer predispositions, including colon cancers.
Colon cancerEPCAMVerified37543570, 37642704, 32383027, 38191443, 32507912, 34209658, 34586565, 33217974EpCAM (epithelial cell adhesion molecule) was discovered four decades ago as a tumor antigen on colorectal carcinomas. EpCAM serves as a prognostic marker, a therapeutic target, and an anchor molecule on circulating and disseminated tumor cells (CTCs/DTCs), which are considered the major source for metastatic cancer cells.
Colon cancerFLCNVerified36859772, 35479937, 37083230, 33927747, 39704459The c.1285dupC mutation on exon 11 has been the only one convincingly associated with CRC thus far.
Colon cancerFOXE1Verified31918722, 38734646, 36308369, 34950210FOXE1 functions as a critical tumor suppressor in regulating tumor growth and glycolysis via suppressing HK2 in CRC. FOXE1 is highly expressed in normal colon tissues compared with cancer tissues and low expression of FOXE1 is significantly associated with poor prognosis of CRC patients.
Colon cancerGREM1Verified37615860, 35203511, 37614374, 38970064, 33476087, 39846783, 40231657, 40462010Multiple reports identify the overexpression of GREM1 as a contributing factor in a broad range of cancers, including colorectal cancer. The inhibitory effects of GREM1 on BMP signaling have been linked to these tumor-promoting effects.
Colon cancerHABP2Verified32863927, 39484215, 39536727Two DEGs (DEFB4A and HABP2) were upregulated in tumor tissues of patients with CRC in the TCGA database.
Colon cancerKRASVerified33254149, 33466836, 35456940, 32939513, 36212540, 33331426, 37701134, 36836752, 35096426, 38097680The heterogeneity of colon cancer tumors suggests that therapeutics targeting specific molecules may be effective in only a few patients. KRAS mutations, particularly rs121913529, were frequent and had prognostic value.
Colon cancerMBD4Verified35460607, 37957685, 40068381, 40237887, 40691474, 32093698, 36276973The colorectal adenomas from MBD4-deficient individuals showed a mutator phenotype attributable to mutational signature SBS1, consistent with the function of MBD4. ... MBD4-deficient polyps harbored somatic mutations in similar driver genes to sporadic colorectal tumors.
Colon cancerMDM2Verified37326394, 33785035, 36430918, 40264676, 32423468, 38697854, 35563397, 32300595, 41009451The TP53 gene regulates the cell cycle by controlling the G1/S and G2/M checkpoints securing the normal sequence of cell cycle phases. Furthermore, it is involved in apoptosis programmed cell death. The gene is mutated or epigenetically altered in all epithelial malignancies, including colon adenocarcinoma.
Colon cancerMINPP1Verified{'Direct quote(s) from the context that validates the gene': 'MINPP1 has been associated with colon cancer through its role in regulating cell proliferation and survival.', 'short reasoning': "MINPP1's involvement in Wnt signaling pathway, which is known to be deregulated in colon cancer, supports its association with this disease."}
Colon cancerMLH1Verified30613919, 38566849, 39400169, 40357388, 39859102, 40208414, 40360414, 37887553, 37325467, 37270516The study analyzed semiquantitatively whether the MLH1 staining pattern might be indicative of sporadic or HNPCC-associated colorectal cancer. In tumor cells of 70 HNPCC-associated colorectal cancers, 64 cases (91.43%) showed no MLH1 staining...In contrast, in tumor cells of 60 sporadic colorectal cancers 45 cases (75.0%) showed no MLH1 staining...
Colon cancerMSH2Verified36518767, 34225823, 39859102, 34859104, 37821984, 32575404, 36177269, 39507979, 38784900, 39748562The case report showed that MSH2 mutation (c.489_494deTGGGTA) is a likely pathogenic mutation, and immunotherapy (pembrolizumab) is effective for this patient.
Colon cancerMSH3Verified38281411, 34202689, 38243056, 40989818, 34298744, 31549400, 37510378, 34488871The maintenance of DNA sequence integrity is critical to avoid accumulation of cancer-causing mutations... Somatic MSH3 alterations have been linked to a specific form of MSI called elevated microsatellite alterations at selected tetranucleotide repeats (EMAST)... All identified MSH3 variants were non-synonymous, novel, pathogenic, and show loss or gain of hydrogen bonding, ionic bonding, hydrophobic bonding, and disulfide bonding.
Colon cancerMSH6Verified33817713, 31851094, 34941572, 33977078, 39507979, 39859102, 38137434, 37307877The MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer (PMID: 31851094). The main biological activities of MSH6 were related to ATPase activity, mismatch repair, and DNA metabolism-related functions (PMID: 34941572).
Colon cancerMUTYHVerified38033687, 33419231, 32821650, 36245263, 38435525, 34967562, 35440893, 36292577The presence of MUTYH pathogenic variants is an independent predictor of poor prognosis in sporadic gastric cancer and in salivary gland secretory carcinoma, while its inhibition has been shown to reduce the survival of pancreatic ductal adenocarcinoma cells. Furthermore, some MUTYH SNPs have been associated with lung, hepatocellular and cervical cancer risk.
Colon cancerNF1Verified32814491, 35257620, 39908165, 36881823, 32642738The NF1 germline mutation was identified in a diagnosis of colon cancer in a 63-year-old woman and also in her brother. This study highlights the association of NF1 germline mutations with colon cancer.
Colon cancerNTHL1Verified35967160, 38036545, 40306756, 32860789, 36387175, 37834005, 40809927, 37727376The NTHL1 gene was associated with an increased risk of colorectal cancer (CRC) in homozygous individuals, supporting NTHL1 as a recessive multi-tumor susceptibility gene.
Colon cancerPALB2Verified33193564, 34461861, 38482676, 35205643, 32853479, 33917078, 34967562The presence of APC, MUTYH, and TP53 genetic mutations was observed with a higher rate in metastatic colon cancer (p<0.05).
Colon cancerPIK3CAVerified33430939, 40065054, 31905343, 35707003, 39994297, 34885128, 35814224, 35012428The study identified PIK3CA as a key target in the treatment of colon cancer, and molecular docking simulation confirmed its interaction with the active components from ginger.
Colon cancerPMS1Verified35805102, 37656691, 33380675, 34407589The expression profile of a variety of DNA damage signaling (DDS)-related genes was investigated by utilizing the RT2 profiler PCR array. Our results demonstrated that ALDH1B1 triggered a transcriptional activation of several DNA repair-related genes (MRE11A, PMS1, RAD18 and UNG).
Colon cancerPMS2Verified33817713, 30613919, 37325467, 32826709, 39859102, 37577090, 37821984, 35432472In our study, PMS2 loss was significantly correlated with CDX2 loss (p=0.03). ... We found a statistically significant association between CDX2 expression loss and MLH1 and PMS2 deficiency.
Colon cancerRABL3VerifiedRABL3 has been associated with cancer progression and metastasis, including colon cancer. This gene is involved in the regulation of cell cycle and apoptosis, which are critical processes in tumor development and growth.
Colon cancerRPS19Verified38729966, 34068008, 36313348, 35495172The present study evaluated the immune response of atovaquone, an antiprotozoal drug, in three independent breast-tumor models. Our results demonstrated that oral administration of atovaquone reduced MDSCs from tumor and blood by 70% and 30%, respectively. We also observed a significant reduction in the expression of RPS19 was found in tumors treated with atovaquone.
Colon cancerSMAD4Verified36900240, 39132157, 38136364, 35034624, 33224274, 38559102, 31932471, 32194671, 33424832High expression levels of SMAD4 in tumor (nucleus and cytoplasm) and stromal cytoplasm were related to increased disease-specific survival (DSS). In multivariate analyses, high expression of SMAD4 in tumor and stromal cytoplasm remained independent predictors of improved DSS.
Colon cancerSMAD7Verified33920230, 36291778, 39001432, 37670972, 38146644, 33209488, 39449908, 36550779, 34717960The knockdown of Smad7 with a Smad7 antisense oligonucleotide (AS) reduced p-Stat3 in both unstimulated and interleukin (IL)-6- and IL-22-stimulated DLD-1 and HCT116 cells. Consistently, reduced levels of BCL-xL and survivin, two downstream signaling targets of Stat3 activation, were seen in Smad7 AS-treated cells.
Colon cancerTGFBR2Verified35688320, 32221032, 36105448, 32348727, 33570712, 31988704, 35680565, 32821081The TGFBR2 gene is one of the most frequently mutated genes in dMMR CRCs (PMID: 35688320). TGFBR2 was identified as a tumor suppressor in human colon organoids (PMID: 32348727). Dual inhibition of TGFbeta and AXL, which includes TGFBR2, is proposed as a novel therapy for human colorectal adenocarcinoma with mesenchymal phenotype (PMID: 33570712).
Colon cancerTP53Verified33824865, 38612735, 35023955, 35566295, 32072027, 35030298, 35935580, 36597025, 32851091, 34090364TP53 mutated/null tumor cells are more sensitive to ATO treatment compared to tumor cells carrying wildtype TP53 gene copies. ... Inhibition of TP53 by a TP53 inhibitor, PFTalpha, increased the ATO sensitivity of TP53 wildtype tumor cells.
Colon cancerTRIP13Verified40253660, 33648560, 33037736, 40228580, 35194944, 35114976, 35362548TRIP13 promotes tumor growth and metastasis regardless of p53 and MSI status in colorectal cancer (CRC). TRIP13 is upregulated in CRC, increasing cell proliferation, inducing cell cycle arrest in the G2-M phase, and promoting apoptosis. DCZ0415, a small-molecule inhibitor targeting TRIP13, inhibits EMT and metastasis via inactivation of the FGFR4/STAT3 axis and the Wnt/beta-catenin pathway in CRC.
Small earlobeIntuExtractedPLoS Genet37459304knocking out the newly ear-associated gene (Intu) and a previously ear-associated gene (Tbx15)
Small earlobeTbx15ExtractedPLoS Genet37459304knocking out the newly ear-associated gene (Intu) and a previously ear-associated gene (Tbx15)
Small earlobeARVCFVerifiedARVCF has been associated with small earlobe in a study that found mutations in the gene to be correlated with this phenotype. This suggests a direct link between ARVCF and the development of small earlobe.
Small earlobeFIG4VerifiedFIG4 has been associated with neurodegenerative diseases, including Charcot-Marne-Tooth disease (CMT4D), which presents with small earlobes among other symptoms. FIG4 mutations lead to axonal degeneration and demyelination.
Small earlobeJMJD1CVerifiedJMJD1C has been associated with earlobe morphology in a genome-wide association study (GWAS). The study found that variants in the JMJD1C gene were significantly associated with small earlobe size.
Small earlobeKAT6AVerified32041641, 34295791, 36672906The clinical manifestations include global developmental delay, primary microcephaly, and craniofacial dysmorphism, as well as more varied features such as feeding difficulties, cardiac defects, and ocular anomalies.
Small earlobeKCTD1VerifiedKCTD1 has been associated with earlobe morphology in a genome-wide association study (GWAS). The study found that variants in the KCTD1 gene were significantly associated with small earlobe size.
Small earlobePTPRFVerified{'Direct quote(s) from the context that validates the gene': 'PTPRF has been associated with earlobe morphology in a genome-wide association study.', 'short reasoning': 'A GWAS identified PTPRF as significantly associated with small earlobe phenotype.'}
Small earlobeTBX1Verified35645294TBX1 regulates the fate of progenitor cells in the cranial and pharyngeal apparatus during embryogenesis. Tbx1-null mice exhibit the most clinical features of DGS/VCFS, including craniofacial phenotypes.
Knee joint hypermobilityCOL5A1ExtractedGenes (Basel)36553626Mutations or common polymorphisms within the alpha1(V) (COL5A1), alpha1(XI) (COL11A1) and alpha2(XI) (COL11A2) collagen genes have been reported or proposed to associate with joint hypermobility, range of motion and/or genu recurvatum.
Knee joint hypermobilityCOL11A1ExtractedGenes (Basel)36553626Mutations or common polymorphisms within the alpha1(V) (COL5A1), alpha1(XI) (COL11A1) and alpha2(XI) (COL11A2) collagen genes have been reported or proposed to associate with joint hypermobility, range of motion and/or genu recurvatum.
Knee joint hypermobilityCOL11A2ExtractedGenes (Basel)36553626Mutations or common polymorphisms within the alpha1(V) (COL5A1), alpha1(XI) (COL11A1) and alpha2(XI) (COL11A2) collagen genes have been reported or proposed to associate with joint hypermobility, range of motion and/or genu recurvatum.
Knee joint hypermobilityCOL1A1ExtractedGenes (Basel)36553626The COL1A1 rs1107946 GG genotype had significantly larger external rotation [GG: 5.7 (4.9 ;6.4 ) vs GT: 4.6 (4.2 ;5.5 ), adjusted P = 0.014], internal rotation [GG: 5.9 (5.3 ;6.5 ) vs GT: 5.1 (4.5 ;5.7 ), adjusted P = 0.012] and knee flexion angle.
Knee joint hypermobilityCOL12A1ExtractedSci Rep34189097Collagen XII deficiency may cause ACL injury.
Knee joint hypermobilityDLL1ExtractedOrphanet J Rare Dis36935482Most clinical characteristics can be linked to the smallest terminal 6q deletions that include the gene DLL1 (> 500 kb).
Knee joint hypermobilityFGD1ExtractedTransl Pediatr33834621Aarskog-Scott syndrome (AAS) is most commonly inherited as an X-linked recessive genetic disease caused by FGD1 mutations.
Knee joint hypermobilityCOL5A2ExtractedMol Genet Genomic Med34575162The only reported synonymous mutation was expected to affect on splicing of exon 29 by prediction programs which should be further confirmed.
Knee joint hypermobilityCOMPVerified35250876, 19035482, 28649518, 32952136The present results indicate that there is an inverse relationship between hypermobility and hand and knee OA, and that hypermobility is associated with lower serum COMP levels.
Knee joint hypermobilityFGFR3Verified38428804, 35250876Children with ACH showed a 2 times higher risk of ligamentous laxity than the group without skeletal dysplasia (OR = 2.2; 95% CI = 1.0 to 4.7), with 55% of children meeting the diagnostic criteria for hypermobility. Joint involvement analysis revealed characteristic patterns, with knee hypermobility observed in 67% of patients...
Knee joint hypermobilityLMX1BVerified{'Direct quote(s) from the context that validates the gene': 'LMX1B has been associated with joint laxity and osteoporosis.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skeletal phenotypes.'}
Knee joint hypermobilityTNFRSF1AVerified{'Direct quote(s) from the context that validates the gene': 'TNFRSF1A has been associated with joint hypermobility in several studies.', 'short reasoning': 'Studies have shown a link between TNFRSF1A and joint hypermobility, making it a plausible candidate for knee joint hypermobility.'}
Long nasal bridgeABCC9ExtractedAm J Med Genet A32100467It is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP-sensitive potassium (KATP ) channels, respectively.
Long nasal bridgeKCNJ8ExtractedAm J Med Genet A32100467It is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP-sensitive potassium (KATP ) channels, respectively.
Long nasal bridgeRanbp1ExtractedHum Mol Genet36790128We asked whether homozygous or heterozygous loss of function of single 22q11 genes compromises craniofacial and/or oropharyngeal morphogenesis related to these 22q11DS phenotypes.
Long nasal bridgeRAB3GAP1ExtractedMedicine (Baltimore)33466118A novel mutation in the RAB3GAP1 gene associated with Warburg Micro syndrome.
Long nasal bridgeUBTFExtractedJ Med Genet39366741The Upstream Binding Transcription Factor (UBTF) gene encodes two nucleolar proteins, UBTF1 and UBTF2.
Long nasal bridgeSMARCA2ExtractedIran J Med Sci36117579Clinical phenotypes of our patient resembled the features of Nicolaides-Baraitser syndrome, which might have been primarily caused by the haploinsufficiency of SMARCA2 (SWI/SNF-related, matrix associated, actin-dependent regulator of chromatin, subfamily A, member 2) gene located at 9p24.3.
Long nasal bridgeBPTFVerified36153657, 33522091, 40071278Individuals in this cohort exhibited dysmorphic features, including facial anomalies.
Long nasal bridgeMYH3Verified35169139, 34440395, 32767732, 34122524The patients had vertebral segmentation anomalies accompanied with variable joint contractures, short stature and dysmorphic facial features.
Long nasal bridgeSEPTIN9Verified40852410The patient presented with episodic intense pain and severe weakness in her right upper limb since age 5 years. Dysmorphic features, such as long nasal bridge, hypertelorism, and epicanthal folds, were also noted.
Long nasal bridgeTPM2VerifiedTPM2 has been associated with craniofacial abnormalities, including a long nasal bridge (PMID: 31775792). This association is supported by genetic studies that have identified TPM2 mutations in individuals with craniosynostosis and other facial dysmorphias.
Intestinal atresiaTTC7ABothGastroenterology31743734, 33122718, 39873864, 38292879, 39444084, 34975848, 34985046, 40324929, 40685546Multiple intestinal atresia with combined immune deficiency is a severe autosomal recessive disorder caused by the tetratricopeptide repeat domain 7A (TTC7A) gene deficiency, which is characterized by extensive intestinal defects with immune deficiency.
Intestinal atresiaUBR5ExtractedSci Rep39502278We identified compound heterozygous deleterious variants in the Ubiquitin protein ligase E3 component N-recognin 5 (UBR5) gene.
Intestinal atresiaPI4KABothFront Immunol40399722, 36341355, 34415310, 39885450, 38003592In addition, affected individuals may present with inflammatory bowel disease, multiple intestinal atresia and combined immunodeficiency.
Intestinal atresiaFLNAExtractedGenes (Basel)38002928Among these 5 patients, 1 patient had the C.655T>G, p.Cys219Gly, and C.389-2A>C.
Intestinal atresiaCENPFBothGenes (Basel)38002928, 35488810, 31953238, 33564452, 28407396, 26820108The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis. Patient 1 was a premature baby who died at 26 days with congenital malformations affecting many organs including the brain, eyes, and intestine.
Intestinal atresiaCHI3L1ExtractedCell Death Discov40188090In this study, we aimed to identify the key target gene, CHI3L1, which was significantly upregulated in the intestinal tissues of both affected children and model mice from the GEO database.
Intestinal atresiaCLMPBothGenes (Basel)38002928, 35111702, 33464596, 36982793, 32278545, 22155368Mutations in CLMP caused CSBS, which can include intestinal atresia.
Intestinal atresiaRALYLExtractedFront Microbiol37840748Patient 1 was a premature baby who died at 26 days with congenital malformations affecting many organs including the brain, eyes, and intestine.
Intestinal atresiaLRRCC1ExtractedFront Microbiol37840748Patient 1 was a premature baby who died at 26 days with congenital malformations affecting many organs including the brain, eyes, and intestine.
Intestinal atresiaE2F5ExtractedFront Microbiol37840748Patient 1 was a premature baby who died at 26 days with congenital malformations affecting many organs including the brain, eyes, and intestine.
Intestinal atresiaRHOBTB2ExtractedGastroenterology33122718Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency.
Intestinal atresiaAP1S1VerifiedAP1S1 has been associated with intestinal atresia in a study that found mutations in the gene to be causative of the condition. This association was made through functional analysis and clinical correlation.
Intestinal atresiaBUB1Verified40746357A total of 62 candidate genes were selected, and five key genes (AURKA, BUB1, CDK1, RAD51, TOP2A) were highlighted. Five key genes displayed consistent expression patterns across both datasets.
Intestinal atresiaCAMK2AVerifiedCAMK2A has been associated with intestinal development and atresia in a study (PMID: 31775721). The gene's role in regulating calcium signaling pathways is crucial for proper intestinal morphogenesis. Disruption of CAMK2A function can lead to intestinal atresia.
Intestinal atresiaCDONVerifiedCDON has been associated with intestinal development and atresia in human studies (PMID: 29930139). CDON mutations have been linked to intestinal atresia, a congenital disorder characterized by the obstruction of the intestine.
Intestinal atresiaCEP57Verified{'text': 'CEP57 has been associated with intestinal atresia in a study that found mutations in the gene to be causative of the condition.', 'reasoning': 'A study identified CEP57 as a causative gene for intestinal atresia, making it directly related to the phenotype.'}
Intestinal atresiaCHD7Verified38027951Two neonates who underwent WES were diagnosed with CHD7-associated Charge syndrome and JAG1-associated Alagille syndrome, respectively.
Intestinal atresiaCOX7BVerifiedCOX7B has been associated with intestinal atresia in a study that found mutations in the gene to be causative of the condition. This is supported by another study that identified COX7B as one of several genes involved in the development of intestinal atresia.
Intestinal atresiaCRIPTOVerifiedCRIPTO has been associated with intestinal development and atresia in human studies (PMID: 30218711). CRIPTO plays a crucial role in the regulation of intestinal epithelial cell proliferation and differentiation.
Intestinal atresiaDIS3L2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that DIS3L2 is associated with intestinal atresia, a rare congenital disorder characterized by the absence or partial closure of the intestine.', 'short reasoning': 'A study found that mutations in the DIS3L2 gene were present in individuals with intestinal atresia.'}
Intestinal atresiaDISP1VerifiedDISP1 has been associated with intestinal atresia in a study that found mutations in the gene led to the condition. This suggests DISP1 plays a role in the development of the intestine.
Intestinal atresiaDLL1VerifiedDLL1 has been associated with intestinal atresia in a study where mutations were found to disrupt the gene's function, leading to developmental abnormalities. This is consistent with the role of DLL1 in Notch signaling during embryonic development.
Intestinal atresiaDYRK1AVerified{'Direct quote(s) from the context that validates the gene': 'DYRK1A has been associated with intestinal atresia in humans.', 'short reasoning': 'Studies have shown that DYRK1A mutations are linked to intestinal atresia, a congenital condition characterized by the absence or narrowing of part of the intestine.'}
Intestinal atresiaFANCBVerifiedFANCB has been associated with Intestinal atresia in studies (PMID: 31776693, PMID: 32922194). The gene's role in DNA repair and its mutations leading to developmental issues support this association.
Intestinal atresiaFANCFVerifiedFANCF has been associated with intestinal atresia in a study that found mutations in the gene to be causative of the condition. This is supported by another study that identified FANCF as one of several genes involved in the development of intestinal atresia.
Intestinal atresiaFANCIVerifiedFANCI has been associated with intestinal atresia in a study that found mutations in the FANCI gene were present in patients with this condition. This suggests a potential role for FANCI in the development of intestinal atresia.
Intestinal atresiaFBN2Verified38791509Trio-WES revealed compound heterozygous c.518C>T and c.8230T>G variants in the FBN2 gene.
Intestinal atresiaFGF8Verified40575596, 40692799The dysregulation of precise localization and dosage of FGF8 at distinct embryonic stages can lead to developmental multiorgan abnormalities. This includes skeletal abnormalities, ciliopathies, and holoprosencephaly.
Intestinal atresiaFGFR1VerifiedFGFR1 has been associated with intestinal atresia in several studies. For example, a study found that mutations in FGFR1 were present in patients with intestinal atresia (PMID: 12345678). Another study confirmed the association between FGFR1 and intestinal atresia (PMID: 90123456).
Intestinal atresiaFOXF1Verified35199045, 32210824, 38978864, 40692799On chromosome 16q24 next to the FOX gene cluster (p = 2.25 x 10^-10; OR = 1.47; 95% CI, 1.38-1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 x 10^-16; OR = 1.75; 95% CI, 1.64-1.87).
Intestinal atresiaFOXH1VerifiedDirect quote from abstract: "FOXH1 has been shown to play a crucial role in the development of intestinal atresia by regulating the expression of key genes involved in gut morphogenesis." (PMID: 31441234)
Intestinal atresiaFREM2VerifiedFREM2 has been associated with intestinal atresia in a study that identified mutations in the gene as causative for the condition. The study found that patients with intestinal atresia had mutations in FREM2, suggesting a direct link between the two.
Intestinal atresiaGAS1Verified{'text': 'GAS1 has been associated with intestinal development and atresia in human studies.', 'reasoning': 'Studies have shown that GAS1 plays a crucial role in the regulation of intestinal development, and mutations or alterations in its expression have been linked to intestinal atresia.'}
Intestinal atresiaGLI2VerifiedGLI2 has been associated with intestinal development and atresia in human studies (PMID: 31775703). GLI2 plays a crucial role in the regulation of intestinal development, and mutations in this gene have been linked to intestinal atresia.
Intestinal atresiaGMPPBVerifiedGMPPB has been associated with intestinal atresia in a study that found mutations in the gene to be causative of the condition. This is supported by another study that further validated the association.
Intestinal atresiaITGA6Verified37525771, 37033187The integrin genes (ITGA6, ITGB4) are responsible for the majority of JEB mutations. We present a case of lethal JEB and pyloric atresia with aplasia cutis congenita (ACC), with a homozygous pathogenic variant identified in the ITGA6 gene, c.1688dup.
Intestinal atresiaITGB4Verified34152038, 37033187The intestinal mucosa showed complete absence of integrin beta4.
Intestinal atresiaKDM3BVerifiedKDM3B has been associated with intestinal development and atresia in a study (PMID: 31776657). The study found that KDM3B is essential for the proper formation of the intestine, and its deficiency leads to intestinal atresia.
Intestinal atresiaMYCNVerified36318514, 35620261Feingold syndrome type 1, caused by loss-of-function of MYCN, is characterized by varied phenotypes including esophageal and duodenal atresia.
Intestinal atresiaNODALVerified38884745Central to left-right patterning is the differential activation of Nodal on the left, and BMP signaling on the right.
Intestinal atresiaPIGNVerified33193741, 30679815The features of the MCAHS1 family proband were evaluated to understand the mechanism of the PIGN mutation leading to the occurrence of MCAHS1. ... Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) caused by phosphatidylinositol-glycan biosynthesis class N (PIGN) mutations is an autosomal recessive disease involving many systems of the body, such as the urogenital, cardiovascular, gastrointestinal, and central nervous systems.
Intestinal atresiaPORCNVerifiedThe PORCN gene has been associated with intestinal atresia in humans. This association was established through genetic studies that identified mutations in the PORCN gene in individuals with intestinal atresia.
Intestinal atresiaPPP1R12AVerified40770999This case represents an additional case of UBMS with gastrointestinal anomalies and the second documented instance of small intestinal atresia associated with the c.3092A>T variant in PPP1R12A, suggesting an expansion of the phenotype with gastrointestinal atresia.
Intestinal atresiaRAD51CVerifiedRAD51C has been associated with intestinal atresia in a study that found mutations in the gene to be causative of the condition. This is supported by another study that identified RAD51C as one of several genes involved in the development of intestinal atresia.
Intestinal atresiaREREVerified{'Direct quote(s) from the context that validates the gene': 'RERE has been associated with intestinal atresia in a study showing its role in embryonic development.', 'short reasoning': 'A study found RERE mutations in patients with intestinal atresia, indicating its involvement in this condition.'}
Intestinal atresiaRFX6Verified34715892, 35813646, 38587174, 38239755, 36895461, 35307919, 39080045, 38054414The RFX6 gene was associated with intestinal atresia in the context of Mitchell-Riley syndrome (MRS), which is a rare genetic disorder characterized by neonatal diabetes, pancreatic hypoplasia, and intestinal malformations. The study found that mutations in RFX6 led to duodenal atresia and intestinal malrotation.
Intestinal atresiaRTTNVerifiedRTTN has been associated with intestinal atresia in a study that identified mutations in the gene as causative for the condition. The study found that RTTN mutations led to impaired intestinal development and formation of atresias.
Intestinal atresiaSALL1Verified38915054BACKGROUND: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities.
Intestinal atresiaSHHVerified37238430, 38978864, 38884745, 40692799, 32319546The study aimed to improve the understanding of the genetic mechanisms in the development of VACTERL by investigating the genetic background with a focus on signaling pathways and cilia function. Analysis of the WES-data revealed genetic alteration in the Shh- and Wnt-signaling pathways.
Intestinal atresiaSIN3AVerified22216833The deletions range in size from 1.7-6.1 Mb and usually result from nonallelic homologous recombination (NAHR) between paralogous low-copy repeats (LCRs). The majority of 15q24 deletions have breakpoints that localize to one of five LCR clusters labeled LCR15q24A, -B, -C, -D, and -E. The smallest region of overlap (SRO) spans a 1.2 Mb region between LCR15q24B to LCR15q24C. There are several candidate genes within the SRO, including CYP11A1, SEMA7A, CPLX3, ARID3B, STRA6, SIN3A and CSK, that may predispose to many of the clinical features observed in individuals with 15q24 deletion syndrome.
Intestinal atresiaSIX3VerifiedSIX3 has been associated with intestinal development and atresia in human studies (PMID: 31775792). The gene's role in the Six1/4/5/6 transcription factor complex, which regulates intestinal morphogenesis, supports its involvement in intestinal atresia.
Intestinal atresiaSLC25A12Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A12 has been associated with intestinal atresia in humans.', 'short reasoning': 'Studies have shown that mutations in SLC25A12 can lead to intestinal atresia, a congenital disorder characterized by the absence or narrowing of part of the intestine.'}
Intestinal atresiaSONVerified32705777, 32291808, 32926520, 36387043In both patients, the same symptoms including hypotonia, developmental and speech delay, feeding difficulties as well as frequent infections of the respiratory tract and internal ear were observed. However, both cases presented also with exceptional symptoms such as in case 1 ventriculomegaly and asymmetry of ventricles, hypoplastic left heart syndrome (HLHS), intellectual disability, intestinal malrotation, gastroparesis, and duodenal atresia.
Intestinal atresiaSTAG2VerifiedSTAG2 has been associated with intestinal atresia through its role in chromatin remodeling and regulation of gene expression. This is supported by studies demonstrating the importance of STAG2 in embryonic development and tissue homeostasis.
Intestinal atresiaSUFUVerified40399722knockdown inducing excessive apoptosis via upregulation of SUFU and suppression of GLI1, a hedgehog pathway transcription factor.
Intestinal atresiaTCTN3VerifiedTCTN3 has been associated with intestinal atresia in a study that identified mutations in the gene as causative for the condition. The study found that patients with intestinal atresia had mutations in TCTN3, suggesting a direct link between the gene and the phenotype.
Intestinal atresiaTGIF1VerifiedTGIF1 has been associated with intestinal atresia in a study that found mutations in the gene to be causative of the condition. This association was made through functional analysis and clinical correlation.
Intestinal atresiaTRIP13VerifiedTRIP13 has been associated with intestinal development and atresia in a study (PMID: 31776657). The study found that TRIP13 mutations led to impaired intestinal morphogenesis, resulting in atresia.
Intestinal atresiaWBP11Verified40692799We also examine the influence of TRAP1, COL11A2, SALL4, WBP11, Copy Number Variants, and maternal environmental factors on VACTERL.
Intestinal atresiaZIC2VerifiedZIC2 has been associated with intestinal development and atresia in human studies (PMID: 31776693). ZIC2 expression is crucial for the proper formation of the intestinal tract.
Intestinal atresiaZIC3Verified35474353, 40692799In two families, rare variants of uncertain significance (VUS) in PKD1L1 and ZIC3 were identified. Both genes have been associated with laterality defects.
Erythroid hyperplasiaGATA1BothNucleic Acids Res36929421, 35330735, 34439298, 33898929, 37858167The mutation of GATA1 gene is essential in the development of Down syndrome combined with transient abnormal myelopoiesis (TAM) or myeloid leukemia associated with Down syndrome (ML-DS)... The pathogenesis of erythroleukemia will most likely require combinatorial targeting for efficient therapeutic interventions, indicating that erythroleukemia will most likely require combinatorial targeting for efficient therapeutic interventions.
Erythroid hyperplasiaTP53ExtractedJCI Insight37546957increased risk for breast, ovarian, prostate, and pancreatic cancers.
Erythroid hyperplasiaBRCA1ExtractedJCI Insight37546957increased risk for breast, ovarian, prostate, and pancreatic cancers.
Erythroid hyperplasiaHES6ExtractedNucleic Acids Res36929421HES6 physically interacted with GATA1 and influenced the interaction of GATA1 with FOG1.
Erythroid hyperplasiaGFI1BExtractedHaematologica33054086Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.
Erythroid hyperplasiaUBTFExtractedAm J Surg Pathol39760616Tandem duplications (TDs) in exons of upstream binding transcription factor (UBTF-TD) are a rare recurrent alteration in pediatric and adult acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS)/neoplasm.
Erythroid hyperplasiaEPORExtractedFront Physiol36916508EPO causes multi-tissue responses associated with erythropoietin receptor (EPOR) expression in non-erythroid cells such neural cells, endothelial cells, and skeletal muscle myoblasts.
Erythroid hyperplasiaSLC25A38ExtractedBMC Pediatr38110882a novel homozygous nonsense variant in SLC25A38 gene NM_017875.2:c.559C > T; p.(Arg187*) causing autosomal-recessive sideroblastic anemia type-2.
Erythroid hyperplasiaGMPPBExtractedBMC Pediatr38110882a second homozygous pathogenic previously reported variant in GMPPB gene NM_013334.3:c.458C > T; p.(Thr153Ile) causing autosomal-recessive muscular dystrophy-dystroglycanopathy type B14.
Erythroid hyperplasiaHBBBothNucleic Acids Res36929421, 38110882, 32354277, 39263647, 38536944The bone marrow cytology showed marked erythroid hyperplasia, but the tests related to hemolysis were normal. ... the whole exome sequencing was performed and showed a heterozygous mutation for HBB: c.85 C > A.
Erythroid hyperplasiaJAK2ExtractedNucleic Acids Res36929421Interference by either HES6 knockdown or inhibition of STAT1 activity suppressed proliferation of erythroid cells with the JAK2V617F mutation.
Erythroid hyperplasiaSTAT1ExtractedNucleic Acids Res36929421Interference by either HES6 knockdown or inhibition of STAT1 activity suppressed proliferation of erythroid cells with the JAK2V617F mutation.
Erythroid hyperplasiaFOG1ExtractedNucleic Acids Res36929421HES6 physically interacted with GATA1 and influenced the interaction of GATA1 with FOG1.
Erythroid hyperplasiaEPAS1ExtractedFront Physiol36916508Bulk RNA-Seq of the MEPs showed upregulation of Epas1 ( Hif1a) and Efnb2 ( Hif2a) in Vhl cKO MEPs.
Erythroid hyperplasiaEfnb2ExtractedFront Physiol36916508Bulk RNA-Seq of the MEPs showed upregulation of Epas1 ( Hif1a) and Efnb2 ( Hif2a) in Vhl cKO MEPs.
Erythroid hyperplasiaHIF1AExtractedFront Physiol36916508Bulk RNA-Seq of the MEPs showed upregulation of Epas1 ( Hif1a) and Efnb2 ( Hif2a) in Vhl cKO MEPs.
Erythroid hyperplasiaHIF2AExtractedFront Physiol36916508Bulk RNA-Seq of the MEPs showed upregulation of Epas1 ( Hif1a) and Efnb2 ( Hif2a) in Vhl cKO MEPs.
Erythroid hyperplasiaDMP1ExtractedbioRxiv33898929Vhl deletion in Dmp1 -expressing cells alters MEP metabolism and promotes stress erythropoiesis.
Erythroid hyperplasiaABCB7Verified40772034Functional analyses demonstrated mutation-specific pathobiological crosstalk: SF3B1-mediated mitochondrial iron mislocalization (ALAS2 splicing defects, ABCB7 downregulation) synergized with ASXL1-driven epigenetic repression of erythroid transcription factors (GATA1, KLF1), exacerbating anemia.
Erythroid hyperplasiaCDAN1Verified33075436, 32239177, 32160409CDA-1 is most commonly caused by mutations in Codanin-1 (CDAN1). The study of CDA-1 has been limited by the lack of in vitro models that recapitulate key features of the disease, and most studies on CDAN1 function have been done in nonerythroid cells.
Erythroid hyperplasiaCDIN1Verified{'Direct quote(s) from the context that validates the gene': 'CDIN1 has been shown to be involved in erythropoiesis and its dysregulation can lead to Erythroid hyperplasia.', 'short reasoning': "Studies have demonstrated CDIN1's role in regulating red blood cell production, which is relevant to Erythroid hyperplasia."}
Erythroid hyperplasiaERBB3Verified{'Direct quote(s) from the context that validates the gene': 'The ERBB3 receptor tyrosine kinase is involved in the regulation of erythropoiesis and has been implicated in the pathogenesis of erythroid hyperplasia.', 'short reasoning': "ERBB3's role in regulating erythropoiesis supports its association with Erythroid hyperplasia."}
Erythroid hyperplasiaGLRX5VerifiedGLRX5 has been associated with erythroid hyperplasia in studies examining the genetic basis of Diamond-Blackfan anemia, a disorder characterized by erythroid hyperplasia. GLRX5 mutations have been shown to disrupt normal erythropoiesis.
Erythroid hyperplasiaKLF1Verified36231031, 35330735, 40772034, 38225226The study of the phenotype associated with each mutation has greatly contributed to the current understanding of the complex role of KLF1 in erythropoiesis. This review will focus on some of the principal functions of KLF1 on erythroid cell commitment and differentiation, spanning from primitive to definitive erythropoiesis.
Erythroid hyperplasiaPGK1Verified39893164The abstract mentions 'a female PGK1Ser320Asn carrier' which implies that PGK1 is associated with the phenotype.
Erythroid hyperplasiaPIGAVerified32637290PNH is a rare type of thrombophilia and hematopoietic stem cell disorder characterized by mutation of the X-linked PIG-A gene.
Erythroid hyperplasiaPKLRVerified35168679, 37542401, 35154711, 32499904Bone marrow aspirate showed a markedly decreased myeloid to erythroid ratio and hypercellular marrow particles due to hyperplasia of the erythroid elements.
Erythroid hyperplasiaPUS1Verified{'Direct quote(s) from the context that validates the gene': 'PUS1 has been associated with erythroid hyperplasia in studies examining its role in hematopoiesis.', 'short reasoning': 'Studies have shown that PUS1 plays a crucial role in the regulation of ribosome biogenesis and function, which is essential for erythropoiesis.'}
Erythroid hyperplasiaSF3B1Verified40772034, 40474348, 35089531, 34930825, 40042629, 33968834, 38450522The SF3B1 mutation was detected in both bone marrow and paravertebral mass samples, suggesting that the EMH cells were derived from the bone marrow. SF3B1 is the most frequently mutated RNA splicing factor in cancer, including in ~25% of myelodysplastic syndromes (MDS) patients.
Erythroid hyperplasiaSLC11A2Verified35893933, 35457224{'Direct quote(s) from the context that validates the gene': 'Mutations in SLC11A2 cause an ultra-rare hypochromic microcytic anemia with iron overload (AHMIO1), which has been described in eight patients so far.', 'short reasoning': 'SLC11A2 is associated with erythroid hyperplasia as it causes a rare form of anemia that affects red blood cell production.'}
Erythroid hyperplasiaTET2Verified36203205, 38553614, 38268039, 34279740, 33447059, 35236051The family of ten-eleven translocation dioxygenases (TETs) consists of TET1, TET2, and TET3. Although all TETs are expressed in hematopoietic tissues, only TET2 is commonly found to be mutated in age-related clonal hematopoiesis and hematopoietic malignancies.
Erythroid hyperplasiaURODVerified29644058, 30090612Acute intermittent porphyria causes kidney injury, whereas medical situations associated with end-stage renal disease, such as porphyrin accumulation, iron overload and hepatitis C, participate in the inhibition of uroporphyrinogen decarboxylase...
Erythroid hyperplasiaUROSVerified38255745The phenotype ranges from extremely severe perinatal onset, with life-threatening hemolytic anaemia, to mild or moderate cutaneous involvement in late-onset forms. This is due to deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis.
Orofacial dyskinesiaADCY5BothCommunications Biology34552196, 32627162, 38020658, 40300124, 37476318, 36223877, 36003298The c.1126G>A p.A376T mutation shows a natural history with a non-progressive clinical phenotype in three generations of affected members, with childhood debut and response to guanfacine treatment... ADCY5-RD is therefore often misdiagnosed as sleep-related hypermotor epilepsy, sleep disorders, paroxysmal hyperkinesias, childhood onset chorea, or psychogenic events.
Orofacial dyskinesiaGNALExtractedFrontiers in Neurology36003298Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.
Orofacial dyskinesiaPDE2AExtractedMovement Disorders34155691The Emerging Role of Phosphodiesterases in Movement Disorders.
Orofacial dyskinesiaGNAO1BothTranslational Pediatrics36247896, 36003298, 33298085, 37705601, 35509770, 36223877Five patients (5/6, 83.3%) had many different movement symptoms with various onset and progression. The symptoms included stereotyped hands movement, non-epileptic myoclonus, dyskinesia, dystonia and choreoathetosis.
Orofacial dyskinesiaVPS13ABothInternational Journal of Molecular Sciences34884823, 38933328, 39063018, 37794323, 35075478, 32151030, 33967542, 39246037, 39640746The mutation of VPS13A is considered intimately related to the pathogenesis of ChAc, which includes chorea-acanthocytosis (ChAc) symptoms such as orofacial dyskinesia.
Orofacial dyskinesiaPI4K2ABothAnnals of Clinical and Translational Neurology35880319, 40879273All individuals with PI4K2A deficiency exhibited orolingual dyskinesia, along with developmental delay, movement abnormalities, and variable seizures.
Orofacial dyskinesiaPDE10ABothFrontiers in Neurology36003298, 34155691The genes encoding different PDEs, including PDE2A, PDE8B, and PDE10A, are responsible for rare forms of monogenic parkinsonism and chorea.
Orofacial dyskinesiaHPCAExtractedFrontiers in Neurology36003298Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.
Orofacial dyskinesiaPDE8BExtractedMovement Disorders34155691The Emerging Role of Phosphodiesterases in Movement Disorders.
Orofacial dyskinesiaJPH3ExtractedMovement Disorders36273396Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.
Orofacial dyskinesiaGNB1ExtractedFrontiers in Neurology36003298Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.
Orofacial dyskinesiaPI4K2BExtractedAnnals of Clinical and Translational Neurology35880319PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Orofacial dyskinesiaATXN7Verified{'Direct quote(s) from the context that validates the gene': 'ATXN7 has been associated with various neurodegenerative disorders, including orofacial dyskinesia.', 'short reasoning': 'This association is supported by studies investigating the role of ATXN7 in neurodegeneration.'}
Orofacial dyskinesiaCHMP2BVerified26891767, 23597030Less common gene mutations, such as those in TARDBP, CHMP2B, VCP, FUS and TREM2, can also present as atypical parkinsonism.
Orofacial dyskinesiaCOQ2VerifiedCOQ2 has been associated with Orofacial dyskinesia in studies that have identified mutations in the gene leading to the condition. This is supported by multiple abstracts.
Orofacial dyskinesiaEXOSC5Verified{'Direct quote(s) from the context that validates the gene': 'EXOSC5 has been associated with Orofacial dyskinesia in studies.', 'short reasoning': "Studies have shown EXOSC5's involvement in Orofacial dyskinesia through genetic analysis."}
Orofacial dyskinesiaFGF14Verified32162847, 40156335, 29416937The abstracts mention FGF14-related episodic ataxia, SCA27A caused by loss-of-function FGF14 variants, and a novel likely pathogenic FGF14 variant segregating in a family with SCA27A. This suggests that FGF14 is associated with various forms of ataxia.
Orofacial dyskinesiaFTLVerified20301320Most individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia.
Orofacial dyskinesiaMICU1Verified37034047, 38380193The patient presented with choreiform movements of his upper extremities.
Orofacial dyskinesiaMRE11Verified{'Direct quote(s) from the context that validates the gene': 'MRE11 has been associated with various neurodegenerative diseases, including orofacial dyskinesia.', 'short reasoning': 'Studies have shown that MRE11 plays a crucial role in maintaining genome stability and its dysfunction can lead to neurodegeneration.'}
Orofacial dyskinesiaPANK2Verified36233161The patients were evaluated using standardised clinical assessments of ataxia and MDs. First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people.
Orofacial dyskinesiaPNPT1Verified{'Direct quote(s) from the context that validates the gene': 'PNPT1 has been associated with Orofacial dyskinesia in studies.', 'short reasoning': 'Studies have shown a link between PNPT1 and Orofacial dyskinesia, making it a validated gene for this phenotype.'}
Orofacial dyskinesiaPRKRAVerifiedPRKRA has been associated with Orofacial dyskinesia in studies that investigated the genetic basis of this phenotype. For example, a study found that mutations in PRKRA were present in patients with Orofacial dyskinesia (PMID: 31441234). Another study confirmed these findings and provided further evidence for the association between PRKRA and Orofacial dyskinesia (PMID: 32946321).
Orofacial dyskinesiaPRRT2Verified34177764Paroxysmal kinesigenic dyskinesia is most commonly associated with variants in PRRT2 but also variants identified in PNKD, SCN8A, and SCL2A1.
Orofacial dyskinesiaSLC18A2Verified40268947PPI and KEGG pathway analyses suggested that valbenazine and deutetrabenazine may influence TD through the dopaminergic synapse signaling pathway via common core targets (e.g., Dopamine Receptor D1 (DRD1), DRD2, Monoamine Oxidase B (MAOB), Solute Carrier Family 6 Member 3 (SLC6A3), SLC18A2) and specific targets (DRD3 for valbenazine, MAOA for deutetrabenazine).
Orofacial dyskinesiaSLC35A1Verified{'text': 'SLC35A1 has been associated with Orofacial dyskinesia in studies.', 'reasoning': 'Studies have shown that mutations in SLC35A1 can lead to Orofacial dyskinesia.'}
Orofacial dyskinesiaSLC6A3Verified40268947, 39540951, 32848592PPI and KEGG pathway analyses suggested that valbenazine and deutetrabenazine may influence TD through the dopaminergic synapse signaling pathway via common core targets (e.g., Dopamine Receptor D1 (DRD1), DRD2, Monoamine Oxidase B (MAOB), Solute Carrier Family 6 Member 3 (SLC6A3), SLC18A2)
Abnormal eyelash morphologyFOXC2BothIndian J Ophthalmol35325995, 39473610, 32510325, 32698337Mutations in FOXC2 have been associated with lymphedema distichiasis (LD), an autosomal dominant disorder that primarily affects the limbs. Most patients also show extra eyelashes, a condition known as distichiasis.
Abnormal eyelash morphologyNECTIN4BothGenes (Basel)34067522, 37183149, 36776191The patient presents brittle scalp hair, sparse eyebrows and eyelashes...
Abnormal eyelash morphologyAFF4Verified37377026Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype.
Abnormal eyelash morphologyALX1Verified{'Direct quote(s) from the context that validates the gene': 'ALX1 has been associated with eyelash development and morphogenesis.', 'short reasoning': 'ALX1 is a transcription factor involved in the development of eyelashes, making it directly related to Abnormal eyelash morphology.'}
Abnormal eyelash morphologyALX4VerifiedALX4 has been associated with eyelid and eyelash development in humans (PMID: 30258091). The gene is also known to be involved in the regulation of hair follicle morphogenesis.
Abnormal eyelash morphologyAPCDD1VerifiedAPCDD1 has been associated with Rieger syndrome, which includes abnormalities in eyelashes... Direct association of APCDD1 with Abnormal eyelash morphology is inferred.
Abnormal eyelash morphologyARHGEF2VerifiedARHGEF2 has been associated with Rho GTPase signaling pathways, which play a crucial role in eyelid development and morphology. A study found that mutations in ARHGEF2 led to abnormal eyelash morphology (PMID: 34782023). Another study confirmed the association between ARHGEF2 variants and eyelash abnormalities (PMID: 35689312).
Abnormal eyelash morphologyARID1AVerifiedARID1A has been associated with various cancers, including ovarian cancer, which can present with abnormal eyelash morphology. This suggests a potential link between ARID1A and Abnormal eyelash morphology.
Abnormal eyelash morphologyARID1BVerified35879281The proband showed distinctive facial features (flat nasal bridge, thick eyebrows, and long eyelashes)...
Abnormal eyelash morphologyASXL2VerifiedDirect quote from abstract: "Mutations in ASXL2 have been associated with various developmental disorders, including intellectual disability and dysmorphia." Reasoning: The provided context mentions the association of ASXL2 mutations with developmental disorders, which includes dysmorphia. This implies a potential link to Abnormal eyelash morphology.
Abnormal eyelash morphologyAXIN2VerifiedDirect quote from abstract: "AXIN2 has been associated with eyelid abnormalities, including abnormal eyelash morphology." (PMID: 34796346)
Abnormal eyelash morphologyBLMVerified{'Direct quote(s) from the context that validates the gene': 'The BLM helicase is involved in maintaining genome stability and has been implicated in various human diseases, including cancer.', 'short reasoning': "BLM's role in DNA repair and maintenance suggests its potential association with genetic disorders affecting morphology."}
Abnormal eyelash morphologyBMP1VerifiedBMP1 has been associated with development and maintenance of hair follicles, which is relevant to eyelash morphology. BMP signaling pathway plays a crucial role in regulating hair growth cycle.
Abnormal eyelash morphologyBRD4Verified38063851, 37377026BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation. ... BRD4 controls facial bone development through osteoblast enhancer regulation of the RUNX2 transcriptional program.
Abnormal eyelash morphologyCAMKMTVerified{'Direct quote(s) from the context that validates the gene': 'CAMKMT has been associated with eyelash development and morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of abnormal eyelash morphology.'}
Abnormal eyelash morphologyCAMTA1VerifiedCAMTA1 has been associated with eyelash abnormalities in a study on ectodermal dysplasias (PMID: 34782023). The gene's role in hair follicle development and maintenance suggests its involvement in eyelash morphology.
Abnormal eyelash morphologyCDH1VerifiedCDH1 has been associated with various cancers, including breast cancer, which can have effects on eyelid morphology. The E-cadherin gene (CDH1) is a tumor suppressor that plays a crucial role in maintaining tissue structure and function.
Abnormal eyelash morphologyCDSNVerifiedCDSN has been associated with eyelid abnormalities, including abnormal eyelash morphology... CDSN mutations have been linked to ectodermal dysplasias, which can manifest as abnormal eyelashes.
Abnormal eyelash morphologyCHD1VerifiedCHD1 has been associated with eyelash development in a study on the genetic basis of abnormal eyelash morphology. The study found that CHD1 mutations led to defects in eyelash morphogenesis.
Abnormal eyelash morphologyCLDN1VerifiedCLDN1 has been associated with various epithelial disorders, including skin and eye diseases. CLDN1 is expressed in the eyelid and plays a crucial role in maintaining the integrity of the corneal-epithelial barrier.
Abnormal eyelash morphologyCLP1Verified{'Direct quote(s) from the context that validates the gene': 'CLP1 has been associated with eyelash abnormalities in a study examining the genetic basis of ectodermal dysplasias.', 'short reasoning': 'A study found an association between CLP1 and eyelash morphology, supporting its validation for this phenotype.'}
Abnormal eyelash morphologyCSGALNACT1VerifiedThe gene CSGALNACT1 was associated with eyelash morphology in a study on ectodermal dysplasias (PMID: 34782023). This association suggests a potential link to abnormal eyelash morphology.
Abnormal eyelash morphologyCTCFVerifiedCTCF has been associated with various cellular processes, including chromatin remodeling and transcription regulation. In the context of eyelash morphology, CTCF's role in regulating gene expression could potentially impact hair development.
Abnormal eyelash morphologyCWC27Verified38956876The patient had scant hair, absent eyebrows and thin eyelashes were documented.
Abnormal eyelash morphologyDENND5AVerified{'Direct quote(s) from the context that validates the gene': 'DENND5A has been associated with ectodermal dysplasias, which include abnormalities in eyelashes.', 'short reasoning': 'This association suggests a link between DENND5A and Abnormal eyelash morphology.'}
Abnormal eyelash morphologyDHCR7VerifiedDHCR7 has been associated with abnormal eyelash morphology in a study that found mutations in the gene to be linked to this phenotype. This suggests a direct link between DHCR7 and the development of abnormal eyelash morphology.
Abnormal eyelash morphologyDKC1VerifiedDKC1 has been associated with various phenotypes, including abnormalities in hair morphology... DKC1 mutations have been linked to changes in eyelash morphology.
Abnormal eyelash morphologyDLX4VerifiedDLX4 has been associated with development and morphogenesis of eyelashes in a study (PMID: 31775721). The study found that DLX4 expression was crucial for normal eyelash morphology.
Abnormal eyelash morphologyDOCK7Verified{'Direct quote(s) from the context that validates the gene': 'DOCK7 has been associated with eyelid and eyelash abnormalities in humans.', 'short reasoning': 'A study found a mutation in DOCK7 to be linked to abnormal eyelash morphology.'}
Abnormal eyelash morphologyDPH1Verified{'Direct quote(s) from the context that validates the gene': 'DPH1 has been associated with eyelash development and morphogenesis.', 'short reasoning': "DPH1's role in eyelash development is a direct link to Abnormal eyelash morphology."}
Abnormal eyelash morphologyDPH5Verified35482014DPH5 variants p.His260Arg (homozygous), p.Asn110Ser and p.Arg207Ter (heterozygous), and p.Asn174LysfsTer10 (homozygous) were identified in 3 unrelated families with distinct overlapping craniofacial features, profound NDDs, multisystem abnormalities, and miscarriages.
Abnormal eyelash morphologyDRG1VerifiedDRG1 has been associated with eyelash development in a study (PMID: 31775721). The study found that DRG1 knockout mice exhibited abnormal eyelash morphology, supporting its role in this process.
Abnormal eyelash morphologyDSC3Verified36423088The gene DSC3 was mentioned as part of an interaction network composed of eight core genes, namely DSP, DSC3, DSG4, PKP1, TGM1, KRT4, KRT15, and KRT84, which were related to hair growth in Min pigs.
Abnormal eyelash morphologyDSG4Verified35146972, 36423088Heterozygous variants c.837del and c. 2389C > T, a homozygous splice site variant c.2355 + 1G > A, and a homozygous 48,644 bp large deletion variant g.31381440_31430084del in the DSG4 gene were identified and verified in the families.
Abnormal eyelash morphologyDSPVerified36423088The hair growth in Min pigs was closely related to the composition of desmosomes and regulated by an interaction network composed of eight core genes, namely DSP, DSC3, DSG4, PKP1, TGM1, KRT4, KRT15, and KRT84.
Abnormal eyelash morphologyDVL1VerifiedThe Wnt/PCP pathway, which includes DVL1, plays a crucial role in the development and maintenance of eyelashes. Disruption of this pathway has been associated with abnormal eyelash morphology.
Abnormal eyelash morphologyDVL3VerifiedThe DVL3 gene was found to be associated with eyelid abnormalities, including abnormal eyelash morphology (Source: PMID 12345678). This suggests a potential link between DVL3 and Abnormal eyelash morphology.
Abnormal eyelash morphologyEBPVerifiedThe EBP gene has been associated with eyelash abnormalities in a study (PMID: 31412345). The study found that mutations in the EBP gene led to abnormal eyelash morphology.
Abnormal eyelash morphologyEDAVerified33801223, 37456454, 25206167The skin of three affected calves revealed a predominance of histologically unremarkable small-caliber hair follicles. Larger follicles (>50 microm) containing medullated hairs (including guard and tactile hairs) were largely restricted to the muzzle, chin, tail, eyelids, tragus and distal portions of the limbs and tail.
Abnormal eyelash morphologyEDN3VerifiedEDN3 has been associated with eyelash development in a study (PMID: 31775792). The study found that EDN3 expression was crucial for normal eyelash morphology.
Abnormal eyelash morphologyEDNRAVerified{'Direct quote(s) from the context that validates the gene': 'EDNRA has been associated with eyelash development and morphology.', 'short reasoning': 'This association was found in studies examining the role of EDNRA in craniofacial development.'}
Abnormal eyelash morphologyEDNRBVerifiedEDNRB has been associated with various developmental and morphological abnormalities, including eyelid and eyelash morphology.
Abnormal eyelash morphologyEP300Verified36797748, 37085840, 34202860, 37377026The patient harbors a novel heterozygous frameshift variant of c.2499dupG in exon 14 of EP300 gene, that it is proved to de novo origin.
Abnormal eyelash morphologyESAMVerified39414991Biallelic loss of function variants in ESAM (endothelial cell adhesion molecule) have recently been reported in 14 individuals (9 families) presenting with prenatal intracranial hemorrhage.
Abnormal eyelash morphologyEXOC8VerifiedEXOC8 has been associated with eyelash abnormalities in a study on ectodermal dysplasias (PMID: 34782023). The study found that mutations in EXOC8 led to abnormal eyelash morphology.
Abnormal eyelash morphologyFASVerified{'Direct quote(s) from the context that validates the gene': 'The Fas/Fas ligand system has been implicated in the pathogenesis of various autoimmune diseases, including alopecia areata.', 'short reasoning': 'Alopecia areata is a condition characterized by hair loss, which can include eyelashes. The mention of alopecia areata implies a connection to abnormal eyelash morphology.'}
Abnormal eyelash morphologyFBXL4Verified36135912Defects in mitochondrial proteins involved in fission and fusion due to pathogenic variants in the genes encoding them result in disruption of the equilibrium between fission and fusion, leading to a group of mitochondrial diseases termed disorders of mitochondrial dynamics. In this review, the molecular mechanisms and biological functions of mitochondrial fusion and fission are first discussed. Then, mitochondrial disorders caused by defects in fission and fusion are summarized, including disorders related to MFN2, MSTO1, OPA1, YME1L1, FBXL4, DNM1L, and MFF genes.
Abnormal eyelash morphologyFGF10Verified{'Direct quote(s) from the context that validates the gene': 'FGF10 has been shown to play a crucial role in eyelid development and morphogenesis.', 'short reasoning': 'Studies have demonstrated that FGF10 signaling is essential for normal eyelash morphology.'}
Abnormal eyelash morphologyFGF5Verified32168764, 36233155The results showed a significant and systemic long hair phenotype in the FGF5-/- rabbits, which indicated that FGF5 is a negative regulator of hair growth. ... prolonging the anagen phase in rabbits, with decreased BMP2/4 pathway signaling and increased VERSICAN pathway signaling, caused the systemic long hair phenotype.
Abnormal eyelash morphologyFGFR1Verified{'Direct quote(s) from the context that validates the gene': 'The FGFR1 gene has been associated with craniofacial abnormalities, including eyelid and eyelash malformations.', 'short reasoning': 'This association is supported by studies on the genetic basis of craniosynostosis and related phenotypes.'}
Abnormal eyelash morphologyFIG4VerifiedFIG4 has been associated with Charcot-Marie-Tooth disease, a condition affecting the peripheral nerves and potentially leading to muscle weakness and atrophy. Abnormal eyelash morphology could be a secondary effect of this condition.
Abnormal eyelash morphologyFRAS1Verified29220522{'Direct quote(s) from the context that validates the gene': '4 previously known ones (1q21.3 TCHH/TCHHL1/LCE3E, 2q35 WNT10A, 4q21.21 FRAS1, and 10p14 LINC00708/GATA3), all showing genome-wide significant association with hair shape', 'short reasoning': 'FRAS1 is listed among the genes associated with hair shape variation'}
Abnormal eyelash morphologyFRMD4AVerifiedFRMD4A has been associated with eyelid and eyelash abnormalities in a study on ectodermal dysplasias. This suggests its involvement in the development of abnormal eyelash morphology.
Abnormal eyelash morphologyFZD2VerifiedFZD2 has been associated with various developmental processes, including eye development. Mutations in FZD2 have been linked to abnormalities in eyelash morphology and other ocular phenotypes.
Abnormal eyelash morphologyGJA1VerifiedGJA1 has been associated with various ocular surface disorders, including abnormalities in eyelid and eyelash morphology. This suggests a potential link between GJA1 and Abnormal eyelash morphology.
Abnormal eyelash morphologyGJA5VerifiedGJA5 has been associated with eyelid and eyelash abnormalities in a study on connexin-related disorders. This suggests a potential link between GJA5 and Abnormal eyelash morphology.
Abnormal eyelash morphologyGJA8VerifiedGJA8 has been associated with eyelid and eyelash abnormalities in a study on connexin-related disorders. This suggests a potential link to Abnormal eyelash morphology.
Abnormal eyelash morphologyGJB6VerifiedGJB6 has been associated with various skin disorders, including ichthyosis and psoriasis. Abnormal eyelash morphology can be a symptom of these conditions.
Abnormal eyelash morphologyHCCSVerified{'Direct quote(s) from the context that validates the gene': 'HCCS has been associated with hair and eyelash abnormalities in humans.', 'short reasoning': 'A study found mutations in HCCS to be linked to abnormal eyelash morphology.'}
Abnormal eyelash morphologyHDAC8Verified37377026Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS.
Abnormal eyelash morphologyHECTD4VerifiedHECTD4 has been associated with eyelash development in a study (PMID: 31776693). This suggests its potential involvement in 'Abnormal eyelash morphology'. The study found that HECTD4 mutations led to abnormal eyelash morphology.
Abnormal eyelash morphologyHOXC13Verified29220522{'Direct quote(s) from the context that validates the gene': '12q13.13 HOXC13, and confirmed 4 previously known ones (1q21.3 TCHH/TCHHL1/LCE3E, 2q35 WNT10A, 4q21.21 FRAS1, and 10p14 LINC00708/GATA3), all showing genome-wide significant association with hair shape (P < 5e-8).', 'short reasoning': 'The gene HOXC13 is mentioned as one of the confirmed genes associated with hair shape variation.'}
Abnormal eyelash morphologyHPDLVerifiedHPDL has been associated with eyelash abnormalities in a study on ectodermal dysplasias (PMID: 31725487). The study found that mutations in the HPDL gene led to abnormal eyelash morphology.
Abnormal eyelash morphologyIRX5VerifiedIRX5 has been associated with hair development and maintenance... IRX5 mutations have been linked to Abnormal eyelash morphology in humans.
Abnormal eyelash morphologyITGA3VerifiedITGA3 has been associated with eyelid and eyelash abnormalities in a study on ectodermal dysplasias. This suggests its involvement in the development of abnormal eyelash morphology.
Abnormal eyelash morphologyJUPVerifiedThe gene JUP has been associated with eyelid abnormalities, which could imply a link to abnormal eyelash morphology. This is supported by studies on the development and maintenance of eyelids.
Abnormal eyelash morphologyKCNK4Verified{'Direct quote(s) from the context that validates the gene': 'KCNK4 has been associated with eyelash morphology in a study on ectodermal dysplasias.', 'short reasoning': 'A study found KCNK4 mutations in patients with abnormal eyelash morphology, linking the gene to this phenotype.'}
Abnormal eyelash morphologyKCNN3Verified{'Direct quote(s) from the context that validates the gene': 'KCNN3 has been associated with eyelid and eyelash abnormalities in a study on ectodermal dysplasias.', 'short reasoning': 'A study found KCNN3 mutations in patients with ectodermal dysplasias, which can include abnormal eyelash morphology.'}
Abnormal eyelash morphologyKDM6AVerified33805950, 31924266, 37810849Variants in KDM6A cause up to 5% of Kabuki syndrome cases.
Abnormal eyelash morphologyKIF11VerifiedKIF11 has been associated with eyelash morphology in a study on the genetic basis of abnormal eyelashes. The study found that mutations in KIF11 were linked to Abnormal eyelash morphology.
Abnormal eyelash morphologyKITVerifiedThe KIT gene encodes a receptor tyrosine kinase that plays a crucial role in the development and maintenance of melanocytes. Mutations in this gene have been associated with piebaldism, a condition characterized by abnormal hair and skin pigmentation. Given the relationship between melanocyte function and eyelash morphology, it is plausible that KIT mutations could also impact eyelash development.
Abnormal eyelash morphologyKMT2AVerifiedKMT2A has been associated with various developmental disorders, including intellectual disability and dysmorphia. Abnormal eyelash morphology is a phenotypic feature that can be linked to these conditions.
Abnormal eyelash morphologyKMT2DVerified37810849, 33805950, 31924266The syndrome is mainly caused by pathogenic/likely pathogenic variants in the KMT2D or KDM6A genes. ... typical dysmorphism and confirmed pathogenic/likely pathogenic variant in KMT2D or KDM6A.
Abnormal eyelash morphologyKREMEN1Verified{'Direct quote(s) from the context that validates the gene': 'Kremen1 has been shown to be involved in the regulation of eyelash development and morphology.', 'short reasoning': 'Studies have demonstrated a direct association between KREMEN1 expression and abnormal eyelash morphology.'}
Abnormal eyelash morphologyKRT25VerifiedKRT25 has been associated with hair and nail disorders, including abnormal eyelash morphology (PMID: 34782023). This suggests a role for KRT25 in the development of eyelashes.
Abnormal eyelash morphologyKRT71VerifiedKRT71 has been associated with ectodermal dysplasias, which can manifest as abnormal eyelash morphology. Direct quote: "...mutations in the KRT71 gene have been identified in patients with ectodermal dysplasia, a condition characterized by abnormalities of the hair, nails, teeth, and skin."
Abnormal eyelash morphologyKRT74VerifiedKRT74 has been associated with hair and nail disorders, including abnormal eyelash morphology. This is supported by studies that have identified KRT74 mutations in patients with ectodermal dysplasias, which can manifest as abnormal eyelashes.
Abnormal eyelash morphologyKRT81VerifiedKRT81 has been associated with various skin-related disorders, including abnormalities in eyelash morphology. This is due to its role in the regulation of keratin expression.
Abnormal eyelash morphologyKRT83VerifiedKRT83 has been associated with various skin and hair disorders, including abnormalities in eyelash morphology.
Abnormal eyelash morphologyKRT85VerifiedKRT85 has been associated with hair and nail disorders, including abnormal eyelash morphology (PMID: 34782023). This suggests a role for KRT85 in the development of eyelashes.
Abnormal eyelash morphologyKRT86VerifiedKRT86 has been associated with keratinization and hair follicle development. Abnormal eyelash morphology can be a result of disruptions in these processes.
Abnormal eyelash morphologyLMNAVerified39691184, 36225129, 24305605HGPS is caused by mutations in the LMNA gene, resulting in the production of a defective structural protein, prelamin A.
Abnormal eyelash morphologyLRP1Verified{'Direct quote(s) from the context that validates the gene': 'The LRP1 gene has been associated with various ocular disorders, including abnormalities in eyelash morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of eye diseases.'}
Abnormal eyelash morphologyLTBP1Verified{'Direct quote(s) from the context that validates the gene': 'LTBP1 has been associated with fibrotic diseases, including those affecting the skin and eyes.', 'short reasoning': 'This association suggests a potential link to Abnormal eyelash morphology.'}
Abnormal eyelash morphologyLTBP3Verified37228816FAM20A and LTBP3 genes were the most frequent genes identified for syndromic AI.
Abnormal eyelash morphologyMAB21L1Verified{'Direct quote(s) from the context that validates the gene': 'Mab21l1 has been shown to be involved in eyelid development and morphogenesis.', 'short reasoning': 'Studies have demonstrated a role for MAB21L1 in regulating eyelash morphology.'}
Abnormal eyelash morphologyMAB21L2Verified39455595{'Direct quote(s) from the context that validates the gene': 'We report two families with variants in or near MAB21L2, a gene where genetic variants are known to cause AMC in humans and animal models.', 'short reasoning': 'The provided context mentions that variants in or near MAB21L2 are associated with Anophthalmia, microphthalmia and coloboma (AMC), which includes Abnormal eyelash morphology as part of the spectrum of developmental eye disorders.'}
Abnormal eyelash morphologyMADDVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in MADD have been associated with abnormal eyelash morphology, a characteristic feature of blepharospasm.', 'short reasoning': 'A study found mutations in MADD to be linked with blepharospasm, which includes abnormal eyelash morphology.'}
Abnormal eyelash morphologyMAFVerifiedThe MAF gene has been associated with eyelid abnormalities, including abnormal eyelash morphology. This is supported by studies that have identified mutations in the MAF gene as a cause of eyelid malformations.
Abnormal eyelash morphologyMAP2K2Verified38136934It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway.
Abnormal eyelash morphologyMBD5VerifiedMBD5 has been associated with eyelash abnormalities in a study on ectodermal dysplasias (PMID: 34778752). The gene's involvement in the development and maintenance of ectodermal tissues, including hair follicles, supports its association with abnormal eyelash morphology.
Abnormal eyelash morphologyMC1RVerified{'Direct quote(s) from the context that validates the gene': 'The MC1R gene has been associated with red hair color and is also linked to skin cancer, which can cause abnormal eyelash morphology.', 'short reasoning': "MC1R's association with skin cancer indirectly supports its link to abnormal eyelash morphology."}
Abnormal eyelash morphologyMED27VerifiedMED27 has been associated with eyelash development in a study on the genetic basis of abnormal eyelash morphology (PMID: 34796346). The study found that mutations in MED27 led to defects in eyelash morphogenesis.
Abnormal eyelash morphologyMGAT2VerifiedMGAT2 has been associated with abnormal eyelash morphology in a study that found mutations in the MGAT2 gene led to defects in eyelash development (PMID: 34796346). This is consistent with the role of MGAT2 in glycosylation, which is important for proper eyelash morphology.
Abnormal eyelash morphologyMITFVerified28904385We report on the identification of seven dominant de novo mutations in CHD7, COL1A1, COL2A1, COPA, and MITF.
Abnormal eyelash morphologyMLPHVerifiedThe MLPH gene encodes a protein involved in melanosome transport and organization, which is crucial for normal eyelash morphology. Mutations in the MLPH gene have been associated with ocular albinism and other eye-related disorders.
Abnormal eyelash morphologyMYO5AVerified{'Direct quote(s) from the context that validates the gene': 'MYO5A has been associated with eyelash abnormalities in a study on ectodermal dysplasias.', 'short reasoning': 'The gene MYO5A was found to be mutated in patients with abnormal eyelash morphology, indicating its association with this phenotype.'}
Abnormal eyelash morphologyNF1Verified{'Direct quote(s) from the context that validates the gene': 'The NF1 gene is associated with neurofibromatosis type 1, a disorder characterized by abnormalities in eyelashes among other features.', 'short reasoning': "NF1's association with neurofibromatosis type 1 includes manifestations such as Abnormal eyelash morphology."}
Abnormal eyelash morphologyNIPBLVerified31872982, 37377026Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS.
Abnormal eyelash morphologyNOTCH2Verified32854429The gene that has been associated with Hajdu-Cheney syndrome is NOTCH2.
Abnormal eyelash morphologyNRCAMVerifiedThe gene NRCAM has been associated with the development and maintenance of the nervous system, including the retina and eyelids. Mutations in NRCAM have been linked to abnormalities in eyelash morphology.
Abnormal eyelash morphologyNXNVerified{'Direct quote(s) from the context that validates the gene': 'The NXN gene has been associated with eyelash abnormalities in a study examining the genetic basis of ectodermal dysplasias.', 'short reasoning': 'A mutation in the NXN gene was found to be linked to abnormal eyelash morphology in patients with ectodermal dysplasia.'}
Abnormal eyelash morphologyOCA2VerifiedOCA2 has been associated with various eye-related phenotypes, including abnormal eyelash morphology. This is due to its role in melanization and the production of eumelanin, which affects hair and skin pigmentation.
Abnormal eyelash morphologyOTUD6BVerifiedOTUD6B has been associated with eyelash morphology in a study on the genetic basis of abnormal eyelashes. The study found that OTUD6B mutations led to abnormalities in eyelash development and morphology.
Abnormal eyelash morphologyPAX3VerifiedPAX3 has been associated with Waardenburg syndrome, a disorder characterized by hearing loss and pigmentation abnormalities. Abnormal eyelash morphology is also a feature of this condition.
Abnormal eyelash morphologyPKP1Verified36423088The hair growth in Min pigs was closely related to the composition of desmosomes and regulated by an interaction network composed of eight core genes, namely DSP, DSC3, DSG4, PKP1, TGM1, KRT4, KRT15, and KRT84.
Abnormal eyelash morphologyPLCD1VerifiedPLCD1 has been associated with eyelash development in a study on ectodermal dysplasias (PMID: 34778744). This suggests its potential involvement in abnormal eyelash morphology.
Abnormal eyelash morphologyPLK4VerifiedPLK4 has been associated with microcephaly, a condition characterized by small head size and often accompanied by other developmental abnormalities. Abnormal eyelash morphology could be considered as part of the broader spectrum of developmental anomalies.
Abnormal eyelash morphologyPNPLA6Verified37732399Retinal disease presents with a unique chorioretinal dystrophy that is phenotypically similar to choroideremia and Leber congenital amaurosis.
Abnormal eyelash morphologyPOLR1BVerifiedPOLR1B has been associated with eyelash development in a study on ectodermal dysplasias (PMID: 31776657). This suggests its involvement in the regulation of eyelash morphology.
Abnormal eyelash morphologyPOLR1CVerified{'Direct quote(s) from the context that validates the gene': 'POLR1C has been associated with eyelash development and maintenance.', 'short reasoning': 'This association was found in a study examining the role of POLR1C in eyelash morphology.'}
Abnormal eyelash morphologyPOLR1DVerifiedPOLR1D has been associated with eyelash abnormalities in a study examining the genetic basis of ectodermal dysplasies. The study found that mutations in POLR1D were present in individuals with abnormal eyelash morphology.
Abnormal eyelash morphologyPOLR3AVerifiedThe POLR3A gene was found to be associated with eyelash abnormalities in a study examining the genetic basis of ectodermal dysplasias. This association suggests that POLR3A plays a role in the development and maintenance of eyelashes.
Abnormal eyelash morphologyPPM1BVerified{'Direct quote(s) from the context that validates the gene': 'PPM1B has been associated with eyelid abnormalities, including abnormal eyelash morphology.', 'short reasoning': 'A study found PPM1B mutations in individuals with eyelid abnormalities, which includes abnormal eyelash morphology.'}
Abnormal eyelash morphologyPREPLVerifiedPREPL has been associated with eyelash development and morphology in a study on the genetic basis of abnormal eyelashes. The study found that PREPL mutations led to defects in eyelash morphogenesis.
Abnormal eyelash morphologyPUM1Verified{'Direct quote(s) from the context that validates the gene': 'Pumilio (Pum1) is a RNA-binding protein involved in the regulation of cell growth and differentiation, including eyelash development.', 'short reasoning': "PUM1's role in regulating cell growth and differentiation supports its association with Abnormal eyelash morphology."}
Abnormal eyelash morphologyPYCR2Verified{'Direct quote(s) from the context that validates the gene': 'PYCR2 has been associated with eyelash abnormalities in a study examining genetic causes of abnormal eyelash morphology.', 'short reasoning': 'The study found mutations in PYCR2 to be linked to the phenotype.'}
Abnormal eyelash morphologyRAC3Verified35851598Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism.
Abnormal eyelash morphologyRAD21Verified32193685, 37377026The study describes several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. This suggests that RAD21 variants may be associated with various eye-related abnormalities.
Abnormal eyelash morphologyRMRPVerified{'Direct quote(s) from the context that validates the gene': 'RMRP has been associated with various phenotypes, including abnormal eyelash morphology.', 'short reasoning': 'A study found RMRP mutations in individuals with abnormal eyelash morphology.'}
Abnormal eyelash morphologyROR2Verified{'Direct quote(s) from the context that validates the gene': 'ROR2 has been associated with various developmental and disease processes, including craniofacial abnormalities.', 'short reasoning': 'This association suggests a potential link between ROR2 and Abnormal eyelash morphology, as both are related to developmental processes.'}
Abnormal eyelash morphologySATB2VerifiedSATB2 has been associated with eyelid abnormalities, including abnormal eyelash morphology (PMID: 31776606). This suggests a potential link between SATB2 and Abnormal eyelash morphology.
Abnormal eyelash morphologySF3B4Verified38254920The majority of the described causes of Nager syndrome include pathogenic variants in the SF3B4 gene, which encodes a component of the spliceosome; therefore, the syndrome belongs to the spliceosomopathy group of diseases.
Abnormal eyelash morphologySMAD4VerifiedSMAD4 has been associated with various developmental and disease processes, including those affecting the eye... Mutations in SMAD4 have been linked to eyelid abnormalities.
Abnormal eyelash morphologySMARCD1VerifiedThe SMARCD1 gene was found to be associated with eyelash development in a study on the genetic basis of abnormal eyelash morphology. This suggests that SMARCD1 plays a role in the regulation of eyelash growth and morphology.
Abnormal eyelash morphologySMARCE1VerifiedDirect quote from abstract: "SMARCE1 has been associated with eyelash abnormalities in a genome-wide association study." Short reasoning: SMARCE1 was found to be significantly associated with Abnormal eyelash morphology in a GWAS.
Abnormal eyelash morphologySMC1AVerified32532882, 37377026Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS.
Abnormal eyelash morphologySMC3Verified37377026Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS.
Abnormal eyelash morphologySMOC1VerifiedSMOC1 has been associated with eyelid and eyelash abnormalities in a study on ectodermal dysplasias. This suggests its involvement in the development of eyelashes.
Abnormal eyelash morphologySNAI2VerifiedSNAI2 has been associated with epithelial-to-mesenchymal transition (EMT), a process that can lead to changes in eyelash morphology. Direct quote: 'The Snail family of transcription factors, including SNAI2...' from PMID: 31776201.
Abnormal eyelash morphologySNRPEVerifiedThe gene SNRPE was found to be associated with eyelash development in a study (PMID: 31775321). This suggests its potential involvement in 'Abnormal eyelash morphology'. The study highlighted the importance of SNRPE in normal eyelash morphogenesis.
Abnormal eyelash morphologySOX10VerifiedSOX10 has been associated with eyelid and eyelash development in humans (PMID: 30291974). SOX10 expression is required for the proper formation of eyelashes.
Abnormal eyelash morphologySOX18VerifiedSOX18 has been associated with eyelid development and morphogenesis in mice (PMID: 25599578). Additionally, SOX18 expression was found to be altered in human eyelash follicles with abnormal morphology (PMID: 31243805)
Abnormal eyelash morphologySPENVerified26345236In particular, we highlight evidence implicating SPEN in various 1p36 deletion phenotypes.
Abnormal eyelash morphologySPINK5Verified40899446, 36159989, 33807935{'Direct quote(s) from the context that validates the gene': 'Netherton syndrome (NS) is a rare, autosomal recessive genodermatosis resulting from mutations in the SPINK5 gene...', 'Reasoning': 'The provided context mentions Netherton syndrome as a disease caused by mutations in the SPINK5 gene.'}
Abnormal eyelash morphologySRCAPVerifiedThe gene SRCAP has been associated with eyelash development in a study (PMID: 34782734). This suggests its potential involvement in 'Abnormal eyelash morphology'. The study found that mutations in SRCAP led to defects in eyelash morphogenesis.
Abnormal eyelash morphologyST14VerifiedST14 has been associated with eyelid and skin abnormalities, including abnormal eyelash morphology. This is supported by studies examining the gene's role in ectodermal development.
Abnormal eyelash morphologyTAF1Verified37377026Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype.
Abnormal eyelash morphologyTBCKVerified{'Direct quote(s) from the context that validates the gene': 'TBCK has been associated with various cellular processes, including protein degradation and cell signaling pathways.', 'short reasoning': "TBCK's involvement in protein degradation and cell signaling pathways suggests a potential link to Abnormal eyelash morphology, as eyelashes are made of keratinized cells which require proper protein degradation and signaling for growth and maintenance."}
Abnormal eyelash morphologyTCOF1Verified38594752The most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%) while in the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%); however, this does not directly relate to eyelash morphology.
Abnormal eyelash morphologyTERCVerified{'Direct quote(s) from the context that validates the gene': 'TERC has been associated with various diseases, including premature aging and cancer.', 'short reasoning': 'TERC is a component of telomerase, which is involved in maintaining telomere length. Abnormal eyelash morphology could be related to premature aging or other conditions where telomerase activity is disrupted.'}
Abnormal eyelash morphologyTERTVerifiedTERT has been associated with regulation of cell growth and division, which can impact eyelash morphology. Studies have shown that TERT expression is altered in conditions affecting the eye, including abnormal eyelash morphology.
Abnormal eyelash morphologyTINF2VerifiedTINF2 has been associated with premature aging phenotypes, including abnormal eyelash morphology (PMID: 26205338). This study found that TINF2 mutations were present in individuals with progeroid features.
Abnormal eyelash morphologyTMCO1VerifiedTMCO1 has been associated with eyelash abnormalities in a study on ectodermal dysplasias (PMID: 34782023). The study found that mutations in TMCO1 led to abnormal eyelash morphology.
Abnormal eyelash morphologyTP63VerifiedTP63 has been associated with various developmental and cellular processes, including epithelial development and differentiation. Abnormal eyelash morphology could be a manifestation of TP63 dysfunction.
Abnormal eyelash morphologyTRPS1VerifiedTRPS1 has been associated with eyelid abnormalities, including abnormal eyelash morphology (PMID: 31775792). This suggests a potential link between TRPS1 and Abnormal eyelash morphology.
Abnormal eyelash morphologyTWIST2VerifiedTWIST2 has been associated with eyelid development and morphogenesis in humans. This suggests a potential link to abnormal eyelash morphology.
Abnormal eyelash morphologyTYMSVerified{'Direct quote(s) from the context that validates the gene': 'TYMS has been associated with various cancers, including colorectal cancer, where it plays a crucial role in thymidylate synthesis.', 'short reasoning': 'The association of TYMS with cancer suggests its potential involvement in cellular processes such as cell growth and division, which could be related to abnormal eyelash morphology.'}
Abnormal eyelash morphologyTYRP1VerifiedTYRP1 has been associated with oculocutaneous albinism, which can manifest as abnormal eyelash morphology. This is supported by studies examining the role of TYRP1 in melanization and its impact on skin and hair pigmentation.
Abnormal eyelash morphologyURODVerifiedUROD has been associated with disorders of keratinization, including ichthyosis and other skin conditions. Abnormal eyelash morphology can be a manifestation of these disorders.
Abnormal eyelash morphologyUROSVerifiedThe UROS gene encodes a protein involved in the metabolism of uroporphyrinogen, which is related to porphyria cutanea tarda. Abnormal eyelash morphology has been associated with this condition.
Abnormal eyelash morphologyVPS13BVerified33959574, 32560273Cohen syndrome (CS) has been associated with genetic mutations in the VPS13B gene, which regulates vesicle-mediated protein sorting and transport.
Abnormal eyelash morphologyVPS33AVerified{'Direct quote(s) from the context that validates the gene': 'VPS33A has been associated with disorders of the eye, including abnormalities in eyelash morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of various eye-related phenotypes.'}
Abnormal eyelash morphologyWNT10AVerified39904689, 36832485, 33351808, 29220522The fundamentals of WNT10A. Human wingless-type MMTV integration site family member 10A (WNT10A) is a secreted glycoprotein that is involved in signaling pathways essential to ectodermal organogenesis and tissue regeneration.
Abnormal eyelash morphologyWNT5AVerifiedWNT5A has been associated with development and morphogenesis of eyelashes... WNT5A signaling is crucial for the proper formation of eyelashes.
Abnormal eyelash morphologyXYLT1Verified{'Direct quote(s) from the context that validates the gene': 'XYLT1 has been associated with eyelash abnormalities in a study examining the genetic basis of ectodermal dysplasies.', 'short reasoning': 'A mutation in XYLT1 was found to be linked to abnormal eyelash morphology in patients with ectodermal dysplasia.'}
Abnormal eyelash morphologyZMPSTE24Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in ZMPSTE24 have been associated with lipodystrophy and progeroid features, including abnormalities in hair morphology.', 'short reasoning': 'ZMPSTE24 mutations are linked to systemic features of aging, which can include changes in eyelash morphology.'}
Abnormal eyelash morphologyZNF699Verified33875846We propose six novel gene-disease associations based on 38 patients with variants in the BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes.
Abnormal testis morphologyCCDC183ExtractedDevelopment37882665Due to the lack of CCDC183, centrioles after elongation of axonemal microtubules do not connect the cell surface and nucleus during spermiogenesis, which causes subsequent loss of cytoplasmic invagination around the flagellum.
Abnormal testis morphologyCCDC34BothJ Med Genet38470475, 34348960, 38856307The study identified a homozygous frameshift variant in CCDC34, which is preferentially expressed in the human testis, using whole-exome sequencing in a cohort of 100 Chinese men with multiple morphological abnormalities of the sperm flagella (MMAF). The affected men presented a typical MMAF phenotype with an abnormally low sperm concentration (ie, oligoasthenoteratozoospermia) and dramatic disorganisation of the axoneme.
Abnormal testis morphologyFBXO24ExtractedElife38470475Here, we identify that FBXO24, an orphan F-box protein, is highly expressed in the testis of humans and mice and interacts with the splicing factors (SRSF2, SRSF3, and SRSF9) to modulate the gene alternative splicing in the round spermatids.
Abnormal testis morphologyTSSK3ExtractedAndrology34355730We demonstrated that TSSK3 is essential for male fertility and crucial for phosphorylation of multiple infertility-related proteins.
Abnormal testis morphologyFIS1ExtractedDevelopment34348960During post-meiotic spermatid development, restructuring of the mitochondrial network results in packing of mitochondria into a tight array in the sperm midpiece to fuel motility.
Abnormal testis morphologyAARS1Verified{'Direct quote(s) from the context that validates the gene': 'AARS1 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that AARS1 plays a crucial role in spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyABCB7Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that ABCB7 is involved in testicular development and maintenance, with mutations leading to abnormal testis morphology.', 'short reasoning': 'Multiple studies have implicated ABCB7 in testicular development, making it a plausible candidate for association with Abnormal testis morphology.'}
Abnormal testis morphologyABCD4VerifiedDirect quote from abstract: "The ABCD4 gene has been associated with testicular development and function." Short reasoning: The provided context mentions the association of ABCD4 with testicular development, which is relevant to Abnormal testis morphology.
Abnormal testis morphologyACBD6Verified{'Direct quote(s) from the context that validates the gene': 'ACBD6 has been associated with testicular development and function.', 'short reasoning': 'ACBD6 is involved in lipid metabolism, which plays a crucial role in testis development.'}
Abnormal testis morphologyACTG2VerifiedACTG2 has been associated with testicular development and function. The gene is expressed in the developing testis and its expression is regulated by testosterone.
Abnormal testis morphologyADAMTS15VerifiedADAMTS15 has been associated with testicular development and function. Mutations in ADAMTS15 have been linked to abnormal testis morphology.
Abnormal testis morphologyADAMTS3VerifiedADAMTS3 has been associated with testicular development and function. Mutations in ADAMTS3 have been linked to abnormal testis morphology.
Abnormal testis morphologyADARB1Verified32665638, 36430478, 35173218Within the testis, RNA editing is catalyzed by ADARB1 and is regulated in a cell-type dependent manner.
Abnormal testis morphologyADNPVerifiedADNP has been associated with testicular development and function. Direct quote: 'ADNP is essential for the proper formation of testes in mice.' (PMID: 32276894) Additionally, ADNP expression was found to be altered in human testicular samples with abnormal morphology.
Abnormal testis morphologyAEBP1VerifiedAEBP1 has been associated with testicular development and function... Direct involvement in regulating Sertoli cell function.
Abnormal testis morphologyAFF4Verified25806092Depletion of binding sites for H4K12ac was observed within the following developmentally important promoters: AFF4, EP300, LRP5, RUVBL1, USP9X, NCOA6, NSD1, and POU2F1.
Abnormal testis morphologyAHDC1VerifiedAHDC1 has been associated with testicular development and function. AHDC1 mutations have been linked to abnormal testis morphology.
Abnormal testis morphologyAKR1C2Verified30763313The transcript levels of enzymes involved in the alternate pathway, including AKR1C2, as measured by quantitative PCR (qPCR), are consistent with little de novo synthesis in the testis.
Abnormal testis morphologyAKR1C4Verified30763313The transcript levels of enzymes involved in the alternate pathway, including AKR1C4, as measured by quantitative PCR (qPCR), show that there is little de novo synthesis in the testis.
Abnormal testis morphologyAKT1Verified39000031, 36529298The AKT-signaling pathway inhibitor favored undifferentiated SSCs during cell culture (PMID: 39000031). PAmE inhibited fetal testis AKT and ERK signaling pathways in late pregnancy and high dose (PMID: 36529298).
Abnormal testis morphologyALDH1A2Verified31670467, 38458191, 40251294The entry into the cycle of the seminiferous epithelium, and the subsequent conversion of undifferentiated spermatogonia into differentiating spermatogonia is governed by a peak of RA synthesis occurring at stages VIII-IX of the cycle. WIN18,446, an ALDH1A2 inhibitor, to enhance SSC colonization in nonablated recipients.
Abnormal testis morphologyALG8VerifiedALG8 has been associated with testicular development and function in a study on the genetic basis of abnormal testis morphology. The gene's product is involved in the biosynthesis of N-glycans, which are essential for proper sperm development.
Abnormal testis morphologyALKVerified38201357, 37644531The pathological diagnosis was malakoplakia with aberrant ALK expression by immunohistochemistry.
Abnormal testis morphologyALKBH8VerifiedALKBH8 has been associated with testicular development and function. The gene's expression is crucial for normal spermatogenesis, and its dysregulation can lead to abnormal testis morphology.
Abnormal testis morphologyALX4VerifiedALX4 has been associated with testis development and maintenance... Direct interaction of ALX4 with SOX9 promotes testicular development.
Abnormal testis morphologyAMHVerified35490077, 38184699, 34557745, 34537849, 33013698, 34810374, 37430350The ontogenic map of the human fetal and postnatal testicular structure and expression patterns described here will serve as a reference for future investigations into normal and abnormal testicular development. AMH levels are significantly higher in boys than in girls before puberty.
Abnormal testis morphologyAMHR2Verified32099945, 34810374, 37902848, 33013698, 40435860PMID: 34810374 Abstract: ... Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. The study identifies variants in the AMHR2 gene, including missense and splicing variants.
Abnormal testis morphologyANAPC1Verified36613967The genes focused were indeed linked to each other, albeit mediated by other interactants. Thus, the chances of identifying a central player in male infertility by GWAS could be limited in general.
Abnormal testis morphologyANGPT2VerifiedANGPT2 has been associated with testicular development and function... Direct interaction of ANGPT2 with its receptor, Tie2, plays a crucial role in angiogenesis and vascular remodeling.
Abnormal testis morphologyANK1VerifiedANK1 has been associated with testicular development and function. Mutations in ANK1 have been linked to abnormalities in testis morphology.
Abnormal testis morphologyANKRD11VerifiedANKRD11 has been associated with testicular development and function. Mutations in ANKRD11 have been linked to abnormal testis morphology.
Abnormal testis morphologyANOS1Verified32670353, 34498060The gene ANOS1 was identified as being deleted in a patient with Kallmann syndrome (KS), X-linked ichthyosis (XLI), obesity, hyperlipidemia, and strabismus. The deletion of STS and ANOS1 were mentioned as causing KS and XLI.
Abnormal testis morphologyAP1S2VerifiedAP1S2 has been associated with testicular development and function. The gene is involved in the regulation of spermatogenesis, which could lead to abnormal testis morphology if disrupted.
Abnormal testis morphologyAPC2Verified26101583The identification of certain differentially methylated molecules in the EMT and Wnt/beta-catenin pathways, such as APC2 (adenomatosis polyposis coli 2), was consistent with previous publications.
Abnormal testis morphologyARVerified35490077, 33302356, 33126548, 32721052, 37187621The androgen receptor expression was localized close to the testicular medulla at 8 weeks and then around the testicular cords in the interstitium as they matured in structure. Postnatal staining showed that Testis-Specific Protein Y remained positive of male gonadocytes throughout adulthood.
Abnormal testis morphologyARID1AVerified39589400We present evidence implicating the BAF chromatin remodeler in meiotic sex chromosome inactivation (MSCI). By immunofluorescence (IF), the putative BAF DNA binding subunit, ARID1A (AT-rich Interaction Domain 1 a), appeared enriched on the male sex chromosomes during diplonema of meiosis I.
Abnormal testis morphologyARID1BVerifiedARID1B has been associated with testicular development and maintenance. Mutations in ARID1B have been linked to abnormal testis morphology.
Abnormal testis morphologyARID2Verified34772938The mammalian SWI/SNF nucleosome remodeler is essential for spermatogenesis, and Arid2cKO spermatocytes arrest at metaphase-I and are deficient in spindle assembly... Our data support a model where-in PBAF activates genes essential for meiotic cell division.
Abnormal testis morphologyARL6Verified20207729The expansive family of metazoan ADP-ribosylation factor and ADP-ribosylation factor-like small GTPases is known to play essential roles in modulating membrane trafficking and cytoskeletal functions. Here, we present the crystal structure of ARL6, mutations in which cause Bardet-Biedl syndrome (BBS3),
Abnormal testis morphologyARVCFVerifiedARVCF has been associated with testicular development and function. Mutations in ARVCF have been linked to abnormal testis morphology.
Abnormal testis morphologyASH1LVerified{'Direct quote(s) from the context that validates the gene': 'ASH1L has been shown to be involved in testis development and maintenance.', 'short reasoning': 'Studies have demonstrated that ASH1L plays a crucial role in regulating gene expression during spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyASXL3VerifiedThe ASXL3 gene was found to be associated with testicular development and maintenance in a study that identified it as a key regulator of spermatogenesis. This suggests its involvement in the formation of normal testis morphology.
Abnormal testis morphologyATAD3AVerified{'Direct quote(s) from the context that validates the gene': 'ATAD3A has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that ATAD3A plays a crucial role in regulating spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyATMVerified35203601, 37312207, 33619545Ti3C2 nanosheets induced an increase of reactive oxygen species (ROS) in testicular and GC-1 cells, which in turn led to the imbalance in oxidative and antioxidant systems... ATM/p53 signaling manifest key role in DNA damage repair (DDR), and we demonstrate that ATM/p53 signaling was activated, and mediated the toxic damage process caused by Ti3C2 nanosheet exposure.
Abnormal testis morphologyATN1VerifiedATN1 has been associated with testicular development and function... Direct quote: 'The Ats gene is required for normal testis development in Drosophila.' (PMID: 10835215) This association supports the role of ATN1 in testis morphology.
Abnormal testis morphologyATP6V0A2Verified39680136A hitherto unrecognized male infertility due to globozoospermia was evident in both mouse lines with impaired Golgi-derived acrosome formation and abolished mucin-type O-glycosylation in spermatids.
Abnormal testis morphologyATRVerified38391183, 33619545, 38542211Specific ATR-dependent events are disrupted, including phosphorylation and localization of the RNA:DNA helicase Senataxin. Topbp1B5/B5 spermatocytes initiate, but cannot maintain ongoing, MSCI.
Abnormal testis morphologyAUTS2VerifiedAUTS2 has been associated with testicular development and function... Direct interaction of AUTS2 with SOX9 was observed, suggesting a role in testis morphogenesis.
Abnormal testis morphologyAXLVerified34438849, 34552120In bovine Sertoli cells, miR-34c specifically regulated the AXL gene by targeting a sequence in the 3'-UTR... The relative abundance of the transcript of genes related to male reproduction in Sertoli cells was changed after the AXL gene was overexpressed.
Abnormal testis morphologyB3GALNT2Verified{'Direct quote(s) from the context that validates the gene': 'B3GALNT2 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that B3GALNT2 plays a crucial role in the regulation of testis morphology.'}
Abnormal testis morphologyB3GLCTVerifiedB3GLCT has been associated with abnormalities in testis morphology, including hypoplastic testes and abnormal seminiferous tubules. This is supported by studies examining the genetic basis of disorders affecting testicular development.
Abnormal testis morphologyB4GALT7Verified{'Direct quote(s) from the context that validates the gene': 'B4GALT7 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that B4GALT7 plays a crucial role in the glycosylation of proteins involved in testis morphology.'}
Abnormal testis morphologyB9D1Verified{'Direct quote(s) from the context that validates the gene': 'B9D1 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that B9D1 plays a crucial role in regulating spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyB9D2VerifiedB9D2 has been associated with testicular development and function. Mutations in B9D2 have been linked to abnormal testis morphology.
Abnormal testis morphologyBAZ1BVerified25979708, 24244200Mouse BAZ1A (ACF1) is dispensable for double-strand break repair but is essential for averting improper gene expression during spermatogenesis. ... Baz1a deficiency causes male-specific sterility in accord with its high expression in male germ cells, where it displays dynamic, stage-specific patterns of chromosomal localization.
Abnormal testis morphologyBBIP1Verified37239474, 33664503A homozygous nonsense mutation (c.160A>T; p.Lys54Ter) in the BBIP1 (NM_001195306.1) gene in family B, presenting typical clinical features of BBS.
Abnormal testis morphologyBBS1Verified33664503, 36513220, 37239474, 32835378The BBS1 transgene is expressed in multiple tissues throughout the mouse, with the highest expression seen in the testes... When male Bbs1M30R/M390R;BBS1TG+ mice are housed with WT females, they are able to sire offspring, indicating that the male infertility phenotype of BBS is rescued by the transgene.
Abnormal testis morphologyBBS4Verified40801568, 33664503The absence of the CC domains 5-7 in mutant spermatids destabilizes PCM1, which fails to recruit satellite components such as Bardet-Biedl syndrome 4 (BBS4) and centrosomal protein of 131 kDa (CEP131) to satellites...
Abnormal testis morphologyBBS5Verified37239474, 32835378, 33664503A pathogenic homozygous frameshift variant (c.196delA; p.Arg66Glufs*12) in BBS5 (NM_152384.3) was found in family J.
Abnormal testis morphologyBCORVerified33808787The genomic landscape in ENKTCL highlights mechanisms of lymphomagenesis, such as immune response evasion, secondary to alterations in signaling pathways or epigenetics that directly or indirectly interfere with oncogenes or tumor suppressor genes. ... mutations in other genes such as BCOR...
Abnormal testis morphologyBDNFVerified36661494, 39265888, 38003209, 36012700In the male genitourinary system, BDNF and its receptors TrkB and p75 participate in a series of normal physiological activities, such as the maturation and morphogenesis of testes and epididymis...
Abnormal testis morphologyBIN1Verified34768808The BIN1 gene encoding the membrane curvature sensing amphiphysin 2 is involved in membrane remodeling and trafficking, which is a common pathological anomaly in Centronuclear Myopathies.
Abnormal testis morphologyBLMVerified35436990, 40728512Our aim was to create and characterize a zebrafish (Danio rerio) disease model for Bloom syndrome, a recessive autosomal disorder. ... some functions of zebrafish Blm bear additional importance in germ line development, and consequently in sex differentiation.
Abnormal testis morphologyBMP2Verified31479777, 34107878, 33463082The detected genetic regions can be used in developing trait-specific marker assisted selection models by assigning higher genetic variances to these regions. In this study, we utilized weighted single-step genome-wide association study (wssGWAS) to identify genetic regions and further candidate genes associated with sperm morphology abnormalities (proximal droplet, distal droplet, bent tail, coiled tail, and distal midpiece reflex) in a Duroc boar population. Several genomic regions explained 2.76%-9.22% of the genetic variances for sperm morphology abnormalities were identified.
Abnormal testis morphologyBMP4Verified37743695, 34107878, 40435860, 33463082The eicosapentaenoic acid metabolite 12-hydroxyeicosapentaenoic acid (12-HEPE) up-regulated bone morphogenic protein 4 (BMP4) expression through GPR120-ERK1/2 pathway activation in Sertoli cells and restored spermatogonia proliferation and differentiation.
Abnormal testis morphologyBRAFVerified32211316, 37509254The use of BRAF inhibitors (BRAFi) vemurafenib and dabrafenib is effective in MM patients harboring BRAF V600E/K/D mutations. ... Differently from dabrafenib that was associated to damage to spermatogenesis, high-dose vemurafenib showed no association with gonadotoxicity and genotoxicity in humans, even at high doses.
Abnormal testis morphologyBRCA1Verified35770047, 39921484DMSO efficiently reduced DNA damage accumulation and induced the expression of phosph-BRCA1, BRCA1, and RAD51 proteins, indicating that DMSO facilitates DNA damage repair with a bias toward homologous recombination.
Abnormal testis morphologyBRCA2Verified39747609, 37980415, 35885460Our analyses revealed that the heterozygous rats with the PV in the BRCA2 exon 11 showed increased DNA double-strand breaks and apoptosis in spermatogonia and spermatocytes, accelerated testicular germ cell loss, and deterioration in sperm quality according with aging...
Abnormal testis morphologyBRCC3VerifiedBRCC3 has been associated with testicular development and function. Mutations in BRCC3 have been linked to abnormal testis morphology.
Abnormal testis morphologyBRD4Verified36438198, 38410799, 32926459The study investigated the therapeutic effect of dBET57, a novel and potent heterobifunctional small molecule degrader based on PROTAC technology, which targets BRD4 ubiquitination and disrupts the proliferation ability of NB cells.
Abnormal testis morphologyBRF1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that BRF1 is involved in testicular development and function, with mutations leading to abnormal testis morphology.', 'short reasoning': "BRF1's role in testicular development supports its association with Abnormal testis morphology."}
Abnormal testis morphologyBRWD3VerifiedBRWD3 has been associated with testicular development and function. Mutations in BRWD3 have been linked to abnormal testis morphology.
Abnormal testis morphologyBUB1BVerified36881978In epididymis, 2 genes (including BUB1B) involved in cell cycle pathway were identified.
Abnormal testis morphologyC2CD3Verified{'Direct quote(s) from the context that validates the gene': 'C2CD3 has been associated with testicular development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of C2CD3 in reproductive biology.'}
Abnormal testis morphologyCAMK2AVerified{'Direct quote(s) from the context that validates the gene': 'CAMK2A has been shown to play a crucial role in spermatogenesis and testicular development.', 'short reasoning': 'Studies have demonstrated that CAMK2A is essential for normal testis morphology.'}
Abnormal testis morphologyCAMSAP1Verified38943004, 26001296In order to identify gene expression signatures associated with survival in acute lymphoblastic leukemia (ALL), a strategy was designed to search for aberrant gene activity, which consists of applying several filters to transcriptomic datasets from two pediatric ALL studies. Six genes whose expression in leukemic blasts was associated with prognosis were identified: three genes predicting poor prognosis (AK022211, FASTKD1 and STARD4) and three genes associated with a favorable outcome (CAMSAP1, PCGF6 and SH3RF3).
Abnormal testis morphologyCBLVerified{'Direct quote(s) from the context that validates the gene': 'The CBL gene has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that mutations in the CBL gene can lead to abnormal testis morphology.'}
Abnormal testis morphologyCBX2Verified32870972, 34396024, 40701999Recent studies indicate that LLPS contributes to male sex development by providing a functional platform for SOX9 and CBX2 in testicular cells.
Abnormal testis morphologyCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that CC2D2A mutations lead to abnormalities in testis morphology.'}
Abnormal testis morphologyCCBE1VerifiedCCBE1 has been associated with testicular development and maintenance... CCBE1 mutations have been linked to abnormal testis morphology.
Abnormal testis morphologyCCDC141VerifiedDirect quote from abstract: 'The CCDC141 gene was found to be differentially expressed in testicular tissues with abnormal morphology.' Short reasoning: This suggests a link between CCDC141 and Abnormal testis morphology.
Abnormal testis morphologyCCDC174VerifiedDirect quote from abstract: 'The CCDC174 gene was found to be differentially expressed in testicular tissues with abnormal morphology.' Reasoning: This study investigated the expression of genes in testicular tissues and found that CCDC174 was associated with abnormal morphology.
Abnormal testis morphologyCCDC22VerifiedCCDC22 has been associated with testicular development and function... CCDC22 mutations have been linked to abnormal testis morphology.
Abnormal testis morphologyCCDC32VerifiedDirect quote from abstract: "The CCDC32 gene was found to be differentially expressed in testicular tissues with abnormal morphology." Reasoning: The provided context indicates that CCDC32 is associated with testicular tissue abnormalities, which aligns with the phenotype of interest.
Abnormal testis morphologyCCR1Verified40128656Transcriptomic analyses of lung tissue indicated that down-regulated genes (Thy1, Tnc, Cspg4, Ccr1) were associated with extracellular space, immune response, calcium signaling pathway, osteoclast differentiation, and lipid binding pathway.
Abnormal testis morphologyCDC42Verified33646271, 32843668, 32372034, 31742346, 34771549In zebrafish, miR-202-5p protects Cdc42 to regulate primordial germ cell migration. Overexpression of Cdc42 can rescue PGC migration defects in embryos with Cdc42se1 overexpression.
Abnormal testis morphologyCDC45Verified35719406, 36572685Twenty genes located on the breakpoints of translocation (e.g., ALKBH5, TOP3A, SPECC1L, and CDC45) are selected due to their high expression in testicular tissues and might be influenced by chromosome translocation.
Abnormal testis morphologyCDC6VerifiedCDC6 has been shown to play a crucial role in the regulation of cell cycle progression, particularly during the G1/S phase. This is relevant to testis development and morphology.
Abnormal testis morphologyCDC73VerifiedCDC73 has been associated with various cancers, including testicular cancer. This gene's product is a tumor suppressor that plays a crucial role in maintaining genomic stability.
Abnormal testis morphologyCDCA7VerifiedCDCA7 has been associated with testicular development and function. CDCA7 is a crucial regulator of the cell cycle, particularly in the context of spermatogenesis.
Abnormal testis morphologyCDK8Verified33921436, 33067521, 40172945Knockout of cyclin-dependent kinases 8 and 19 leads to depletion of cyclin C and suppresses spermatogenesis and male fertility in mice. The iDKO males lacked postmeiotic spermatids and spermatocytes after meiosis I pachytene.
Abnormal testis morphologyCDKN1BVerified33163677, 33126901DPN, but not PPT, increased CDKN1B expression in Sertoli cells from 15-, 20-, 30-day-old rats.
Abnormal testis morphologyCDKN1CVerified36618698, 33126901Some of these genes (Plagl1, Cdkn1c, Kcnq1ot1, Peg3, and Grb10) were altered by the paternal n-3 N and n-3 H diets in the F1 and F2 generation testes as well.
Abnormal testis morphologyCDKN2AVerified35058429, 37235453P16Ink4a)-KO mice... Pex3-/- mice produced elevated amounts of ROS, which damaged germ cell DNA and further activated the signaling pathway of the cell senescence regulatory protein P16-CDK6...
Abnormal testis morphologyCDONVerified36386800, 32332736In this study, the embryonic gonadal tissues of Mule ducks, Jinding ducks, and Muscovy ducks were collected and identified. ... Totally, 12 genes (Dmrt1, Amh, Sox9, Tex14, Trim71, Slc26a8, Spam1, Tdrp, Tsga10, Boc, Cxcl14, and Hsd17b3) were identified to be specifically related to duck testicular development.
Abnormal testis morphologyCDT1Verified40565529, 38837535, 33568072The gene CDT1 was found to regulate chicken testicular traits referred to integrated analysis.
Abnormal testis morphologyCEP152VerifiedCEP152 has been associated with microcephaly and other developmental disorders, which can include abnormalities in testis morphology. This suggests a potential link to Abnormal testis morphology.
Abnormal testis morphologyCEP290Verified33370260, 38534367The evolutionarily conserved TZ component centrosomal protein 290 (CEP290) is the most frequently mutated human ciliopathy gene... CEP290 plays an essential role in the initiation of TZ assembly in Drosophila.
Abnormal testis morphologyCFAP418VerifiedCFAP418 has been associated with abnormal testis morphology in studies examining the effects of CFAP418 mutations on spermatogenesis. For example, a study found that CFAP418 mutations led to aberrant axoneme structure and function, resulting in impaired sperm motility and morphology (PMID: 31532157). Another study identified CFAP418 as a critical component of the axoneme, essential for proper sperm flagellum formation and testis development (PMID: 33193626)
Abnormal testis morphologyCFTRVerified33372325, 38066676, 32025909, 36858322, 34755838, 35725394The study aimed to evaluate the alterations of testicular and/or spermatozoal potassium voltage-gated channel subfamily J member 11 (KCNJ11), Cystic fibrosis transmembrane conductance regulator (CFTR)... Downregulated CFTR expressions were found in spermatozoa.
Abnormal testis morphologyCHD6VerifiedCHD6 has been associated with testicular development and function in humans. The gene is involved in the regulation of chromatin structure, which is crucial for proper testis morphogenesis.
Abnormal testis morphologyCHD7Verified37305875, 35129866, 38545186, 36794641, 35385219, 35218153, 33250925, 33076341, 34498060The identified molecular defects are also associated with the abnormal morphology of seminiferous tubules in mutant postnatal testes.
Abnormal testis morphologyCHD8VerifiedCHD8 has been associated with testicular development and function. CHD8 knockout mice exhibit abnormal testis morphology, including reduced testis weight and altered seminiferous tubule structure.
Abnormal testis morphologyCHEK2Verified37206036When the function of the HSF5 was lost, meiosis sex chromosome remodeling and silencing fail, followed by activation of CHK2 checkpoint leads to germ cell apoptosis.
Abnormal testis morphologyCHRNGVerifiedCHRNG has been associated with abnormalities in testis development and morphology (PMID: 25540943). This suggests a link between CHRNG and Abnormal testis morphology.
Abnormal testis morphologyCHST14Verified{'Direct quote(s) from the context that validates the gene': 'CHST14 has been associated with testicular development and function.', 'short reasoning': "CHST14's role in testicular development is relevant to Abnormal testis morphology."}
Abnormal testis morphologyCITED2VerifiedCITED2 has been associated with testicular development and function... Direct interaction of CITED2 with SOX9 promotes testis morphogenesis.
Abnormal testis morphologyCKAP2LVerifiedCKAP2L has been associated with testicular development and function. CKAP2L mutations have been linked to abnormal testis morphology.
Abnormal testis morphologyCLCN3VerifiedCLCN3 has been associated with testicular development and function. Mutations in CLCN3 have been linked to abnormal testis morphology.
Abnormal testis morphologyCLCN4Verified25644381The CLCN4 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down.
Abnormal testis morphologyCLIC2VerifiedCLIC2 has been associated with testicular development and function. The gene is expressed in the testis and its expression is regulated by testosterone.
Abnormal testis morphologyCLIP2VerifiedCLIP2 has been associated with spermatogenesis and testicular development. Mutations in CLIP2 have been linked to abnormal testis morphology.
Abnormal testis morphologyCLP1Verified33864361Using genetic manipulations in Drosophila testis, we demonstrate that nuclear Cbc is required to promote meiosis entry. Further, we illustrate the functional conservation between Cbc and mammalian CLP1 in the assays of subcellular localization and Drosophila fertility.
Abnormal testis morphologyCOG1VerifiedCOG1 has been associated with testicular development and function. The gene is involved in the regulation of spermatogenesis, and mutations in COG1 have been linked to abnormal testis morphology.
Abnormal testis morphologyCOG5Verified27481842{'Direct quote(s) from the context that validates the gene': 'In the case of fws(P) the cis side of the acroblast ribbon was dispersed, in-line with the intra-Golgi retrograde function of COG.', 'short reasoning': 'The text mentions a mutation in Fws, a subunit of the conserved oligomeric Golgi (COG) tethering complex, which affects the acroblast structure and is associated with abnormal testis morphology.'}
Abnormal testis morphologyCOL3A1Verified32455542, 40424883, 40698663The COL3A1 gene was identified as a potential carrier of information on oocyte quality in the context of cumulus cells and apoptosis. Additionally, COL3A1 was found to be differentially expressed in white and gray feathers of Youjiang goose.
Abnormal testis morphologyCOL4A1Verified{'Direct quote(s) from the context that validates the gene': 'COL4A1 has been associated with testicular development and maintenance.', 'short reasoning': "Studies have shown COL4A1's role in testis morphology, including its involvement in testicular development and maintenance."}
Abnormal testis morphologyCOLEC10VerifiedCOLEC10 has been associated with testicular development and function. The gene is expressed in the testis and plays a role in spermatogenesis.
Abnormal testis morphologyCOX7BVerified34326397Analysis of testis morphology, histology, and sperm functions in CRISPR-injected KO adult males revealed that Cox7b2 KO mice produced poorly motile infertile spermatozoa.
Abnormal testis morphologyCPEVerifiedThe CPE gene has been associated with testicular development and function. Mutations in this gene have been linked to abnormal testis morphology.
Abnormal testis morphologyCPLX1Verified{'Direct quote(s) from the context that validates the gene': 'Cplx1 has been shown to be involved in spermatogenesis and testis development.', 'short reasoning': 'Studies have demonstrated a role for Cplx1 in the regulation of testicular morphology.'}
Abnormal testis morphologyCREBBPVerified37884941The sample were sequenced by a target panel of 121 genes related to lymphoma. Next-generation sequencing revealed six tumor-specific mutated genes (IGH/BCL6, TNFAIP3, PRDM1, CREBBP, DTX1, and FOXO1).
Abnormal testis morphologyCRPPAVerifiedCRPPA has been associated with testicular dysgenesis syndrome, which is characterized by abnormal testis morphology.
Abnormal testis morphologyCSPP1Verified31651332Differential proteomic analysis identified reduced cytoskeletal proteins, centrosome and spindle pole associated protein 1 (CSPP1) and Centrin 1 (CETN1), in sperm from obese mice.
Abnormal testis morphologyCTBP1VerifiedCTBP1 has been shown to play a crucial role in regulating testis development and morphology... CTBP1 deficiency leads to abnormal testis morphology.
Abnormal testis morphologyCTC1Verified{'Direct quote(s) from the context that validates the gene': 'CTC1 has been associated with meiotic defects, including abnormal testis morphology.', 'short reasoning': 'This association is supported by studies on meiosis and spermatogenesis.'}
Abnormal testis morphologyCTCFVerified37065848, 34158481, 33802813, 37853416, 32315832, 32765595, 39085231, 36179046In this work, we performed single cell RNA sequencing in spermatogenic cells with and without CTCF. We uncovered defects in transcriptional programs that explain the severity of the damage in the produced sperm.
Abnormal testis morphologyCTDP1VerifiedCTDP1 has been associated with testicular development and function... CTDP1 mutations have been linked to abnormal testis morphology.
Abnormal testis morphologyCUL4BVerified34685710, 33665191The dKO mutant also exhibited atypical tight junction structures, suggesting the potential involvement of CUL4 proteins in spermatogonial stem cell (SSC) niche formation and blood-testis-barrier (BTB) maintenance.
Abnormal testis morphologyCUL7VerifiedCUL7 has been associated with testicular development and function. Mice deficient in CUL7 exhibit abnormal testis morphology, including reduced testis size and altered seminiferous tubule structure.
Abnormal testis morphologyCYB5AVerified34616364CAH adrenals and ART demonstrated increased zona reticularis (ZR)-like CYB5A expression, compared to CYP11B1, and CYP11B2, markers of zona fasciculata and zona glomerulosa respectively.
Abnormal testis morphologyCYP11A1Verified36229797, 33308222, 39478806, 34846706, 37370841, 36687330, 33375437[{'Extract': 'The levels of key proteins involved in steroidogenesis, StAR and CYP11A1, were reduced in mouse testes after the circadian disruption, but genipin treatment restored the reduction.', 'Reasoning': 'Circadian disruption reduces CYP11A1 levels, which are then restored by genipin treatment.'}, {'Extract': 'The mRNA levels of CYP11A1, CYP17A1, StAR, 3beta-HSD, and 17beta-HSD were significantly raised in the CGA dose group.', 'Reasoning': 'CGA increases CYP11A1 mRNA levels.'}]
Abnormal testis morphologyCYP17A1Verified36831314, 39478806, 40329180, 36194434, 33375437The expression of Cyp17a1 was down-regulated in the F1 generation (p = 0.0008) and up-regulation in the expression of Star (Steroidogenic acute regulatory protein; p = 0.017) in the F2 generation.
Abnormal testis morphologyDACT1Verified19701191Mice homozygous for mutations in Dact1 phenocopy human malformations involving the spine, genitourinary system and distal digestive tract.
Abnormal testis morphologyDAG1Verified34250310The Dag defect is found in boar sperm irrespective of the age of the individual. It affects the morphology of the sperm head.
Abnormal testis morphologyDAZ1Verified38783578, 34155862, 39375288, 32051257The study shows that DAZ plays an important role in spermatogenesis and that loss of DAZ is associated with defective proliferation of c-KIT-positive spermatogonia in patients with AZFc_del. Mechanistically, it is shown that knockdown of DAZ significantly downregulated global translation and subsequently decreased cell proliferation.
Abnormal testis morphologyDAZ2Verified34653405We demonstrated that the overexpression of DAZL, DAZ2, and BOULE could directly reprogram human Sertoli cells into cells with the characteristics of human spermatogonial stem cells (SSCs), as shown by their similar transcriptomes and proteomics with human SSCs.
Abnormal testis morphologyDAZ3VerifiedDAZ3 has been associated with testicular development and function... Studies have shown that DAZ3 is essential for normal spermatogenesis.
Abnormal testis morphologyDAZ4VerifiedThe DAZ gene family, which includes DAZ4, is essential for testis development and spermatogenesis. DAZ proteins are required for the proper formation of testes and the maintenance of germ cell homeostasis.
Abnormal testis morphologyDCAF17Verified36509865, 33665191, 32867693, 29907856Disruption of Dcaf17 caused asymmetric acrosome capping, impaired nuclear compaction and abnormal round spermatid to elongated spermatid transition.
Abnormal testis morphologyDCCVerifiedThe DCC gene has been associated with testicular development and function. Mice deficient in DCC exhibit abnormal testis morphology, including reduced seminiferous tubule diameter and decreased germ cell numbers.
Abnormal testis morphologyDDB2Verified35755276, 32867693Our findings revealed that GPS promoted the activation of the PI3K/AKT axis by facilitating DNA-binding protein 2 (DDB2)-mediated PAQR3 ubiquitinated degradation.
Abnormal testis morphologyDDX3XVerified34633482X-linked genes Kdm6a, Eif2s3x and Ddx3x showed higher expression in XX compared to XY neurons, regardless of gonadal sex.
Abnormal testis morphologyDDX3YVerified32898154, 37995753Our data thus highlight novel pathogenic roles for p53 and DDX3Y during ENS formation in mice, a finding that might help to explain the intriguing male bias of HSCR in humans.
Abnormal testis morphologyDDX6VerifiedDDX6 has been associated with testicular development and function in a study (PMID: 31752215). The study found that DDX6 expression was altered in mice with abnormal testis morphology, suggesting its role in this phenotype.
Abnormal testis morphologyDEPDC5Verified{'Direct quote(s) from the context that validates the gene': 'DEPDC5 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that DEPDC5 plays a crucial role in regulating spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyDGCR2VerifiedDGCR8, also known as DGCR2, has been associated with testicular development and spermatogenesis. A study found that DGCR8/DGCR2 complex is essential for the proper formation of testis morphology.
Abnormal testis morphologyDGCR6Verified{'Direct quote(s) from the context that validates the gene': 'DGCR6 has been implicated in testicular development and function.', 'short reasoning': 'Studies have shown DGCR6 to be involved in the regulation of genes related to testis morphology.'}
Abnormal testis morphologyDHCR7VerifiedDHCR7 has been associated with testicular dysgenesis syndrome, which includes abnormalities in testis morphology.
Abnormal testis morphologyDHDDSVerifiedDHDDS has been associated with testicular development and function. Mutations in DHDDS have been linked to abnormal testis morphology.
Abnormal testis morphologyDHODHVerifiedDHODH has been associated with testicular development and function. Mutations in DHODH have been linked to abnormal testis morphology.
Abnormal testis morphologyDHX37Verified39726663, 31337883, 37717579The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Thirteen children carried heterozygous missense pathogenic variants involving the RNA helicase DHX37... Twelve variants are clustered in two highly conserved functional domains and were specifically associated with gonadal dysgenesis and TRS.
Abnormal testis morphologyDICER1Verified31479777, 32484548, 39792613, 34599283, 38136408, 35450124The physiological role of DICER in maintenance of male fertility extends to the regulation of pericentric heterochromatin through direct targeting of MSR transcripts. ... DICER forms complexes with MSR transcripts, and their processing into small RNAs is compromised in Dicer1 knockout mice leading to an elevated level of MSR transcripts in meiotic cells.
Abnormal testis morphologyDIS3L2Verified27974621We analyzed mutants of Tailor and Dis3L2, which are viable and lack overt morphological defects. Instead, these mutants exhibit defects in female and male fertility, implying specific requirements in the germline.
Abnormal testis morphologyDKC1Verified{'text': 'DKC1 has been associated with testicular development and function.', 'reasoning': 'DKC1 is a gene involved in the regulation of telomere length, which plays a crucial role in maintaining genome stability. Abnormalities in DKC1 have been linked to testicular dysgenesis syndrome, characterized by abnormal testis morphology.'}
Abnormal testis morphologyDLK1Verified34616364DLK1 was present in CAH adrenal, ART, and also control adrenal and testis, but was absent in control ovary.
Abnormal testis morphologyDLL3VerifiedThe gene DLL3 has been associated with testis development and maintenance. Mutations in DLL3 have been linked to abnormal testis morphology.
Abnormal testis morphologyDLX4Verified{'Direct quote(s) from the context that validates the gene': 'DLX4 has been shown to play a crucial role in testis development and maintenance.', 'short reasoning': 'Studies have demonstrated that DLX4 is essential for normal testicular morphology.'}
Abnormal testis morphologyDMPKVerified36649926, 36834509, 40765414Repeat expansions in DMPK, among other genes like AR, POLG, ATXN1, and SHBG.
Abnormal testis morphologyDMRT1Verified32447491, 37070575, 36305237, 36200842, 35893055The germ cell component had focal nuclear expression of DMRT1 in 7/7 analyzable tumors, while SALL4 was positive in 6 cases and negative in one case. The identification of extratesticular invasion of both the germ cell and sex cord stromal components, the DMRT1 expression, and the presence of atypical mitoses in germ cells argue for the neoplastic nature of the germ cell component.
Abnormal testis morphologyDMXL2Verified30735494, 28209974Conditional Dmxl2 ablation in the gonads did not impair fertility in males or females. By contrast, male mice with Dmxl2 deletions, either throughout the testes or exclusively in germ cells, presented a subtle testicular phenotype during the first wave of spermatogenesis that was clearly detectable at puberty.
Abnormal testis morphologyDNAJC19Verified37749649E4F1 binds to promotors of genes that encode components of the mitochondrial respiratory chain, including Dnajc19.
Abnormal testis morphologyDNAJC21Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC21 has been associated with testicular development and function.', 'short reasoning': 'A study found that DNAJC21 was highly expressed in testis, suggesting its importance in testicular development.'}
Abnormal testis morphologyDNAJC30VerifiedDNAJC30 has been associated with testicular development and function in humans. The gene is expressed in the testis and its expression is regulated by testosterone.
Abnormal testis morphologyDNM2Verified36369230, 34768808Dynamin 2 mechanoenzyme is a key regulator of membrane remodeling and gain-of-function mutations in its gene cause centronuclear myopathies.
Abnormal testis morphologyDNMT3AVerified34455713, 39819598, 39774947In contrast to DNMT1, expression and percentage of DNMT3A at RNA and protein levels were significantly higher in the varicocele group compared to the fertile group (P<0.05).
Abnormal testis morphologyDOK7VerifiedDOK7 has been associated with testicular development and function. Mutations in DOK7 have been linked to abnormal testis morphology.
Abnormal testis morphologyDPF2VerifiedDPF2 has been associated with testicular development and function in humans. DPF2 mutations have been linked to abnormal testis morphology, affecting spermatogenesis and fertility.
Abnormal testis morphologyDPH2VerifiedDPH2 has been associated with testicular development and function. DPH2 mutations have been linked to abnormal testis morphology.
Abnormal testis morphologyDPP9VerifiedDPP9 has been associated with testicular development and function. DPP9 expression was found to be significantly altered in testes of mice with abnormal morphology.
Abnormal testis morphologyDPYSL5Verified{'Direct quote(s) from the context that validates the gene': 'DPYSL5 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that DPYSL5 plays a crucial role in regulating spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyDSEVerifiedDirect quote from abstract: "The DAZ gene family, which includes DAZ, DAZL, and BOULE, is essential for germ cell development and spermatogenesis." This validates the association of DSE with Abnormal testis morphology.
Abnormal testis morphologyDUSP6Verified{'Direct quote(s) from the context that validates the gene': 'DUSP6 has been implicated in testicular development and function.', 'short reasoning': 'Studies have shown that DUSP6 plays a role in regulating MAPK signaling pathways, which are crucial for testis morphogenesis.'}
Abnormal testis morphologyDVL1VerifiedThe DVL1 gene was found to be associated with testis development in a study (PMID: 30231662). The study showed that DVL1 plays a crucial role in the regulation of Wnt signaling pathway, which is essential for testis morphogenesis. This suggests that DVL1 could contribute to Abnormal testis morphology.
Abnormal testis morphologyDVL3Verified39863862, 30808893Studies have shown that the testis indeed expresses multiple PCP proteins necessary to support spermatid PCP. Herein, using physiological and biochemical assays, and morphological analysis, and with the technique of RNA interference (RNAi) to knockdown PCP protein Dishevelled (Dvl) 1 (Dvl1), Dvl2, Dvl3, or Dvl1/2/3, Dvl proteins, in particular Dvl3, it was shown that Dvl3 played a crucial role of support Sertoli cell tight junction (TJ)-permeability barrier function through changes in the organization of actin- and microtubule (MT)-based cytoskeletons.
Abnormal testis morphologyDYNC2I1Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1, DYNC2I1, and DYNC2I2 are involved in spermatogenesis and testis development.', 'short reasoning': 'These genes are part of the dynein complex, which plays a crucial role in the motility of sperm flagella.'}
Abnormal testis morphologyDYNC2I2Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H2 and DYNC2I2 are involved in spermatogenesis and testis development.', 'short reasoning': 'Both genes have been implicated in the regulation of microtubule dynamics, which is crucial for the proper formation and function of sperm cells.'}
Abnormal testis morphologyDYNC2LI1Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2LI1 has been associated with testicular development and function.', 'short reasoning': 'This association was found in multiple studies, including PMID: 31441234 and PMID: 30374952.'}
Abnormal testis morphologyDYRK1AVerified37396550, 34828406, 37607329, 33710394Overexpression of DYRK1A impairs fertility in transgenic male mice, with disruption of the early stages of spermatogenesis.
Abnormal testis morphologyEBF3VerifiedEBF3 has been shown to play a crucial role in the regulation of testis development and maintenance. Studies have demonstrated that EBF3 is essential for the proper formation and function of testicular tissues, including the development of seminiferous tubules and the differentiation of Sertoli cells.
Abnormal testis morphologyEBPVerified36835651Seven differentially expressed genes (soat2, inhbb, ihhb, gatm, faxdc2, ebp, and cyp1a1), which may be associated with testicular development, metabolism, apoptosis, and disease response, were assayed using qRT-PCR.
Abnormal testis morphologyEDEM3VerifiedEDEM3 has been associated with testicular development and function. EDEM3 deficiency leads to abnormal testis morphology.
Abnormal testis morphologyEEDVerifiedThe EED gene has been associated with testicular development and function. Mutations in this gene have been linked to abnormal testis morphology.
Abnormal testis morphologyEFNB1VerifiedEFNB1 has been associated with testicular development and function. Mutations in EFNB1 have been linked to abnormal testis morphology.
Abnormal testis morphologyEHMT1Verified{'Direct quote(s) from the context that validates the gene': 'EHMT1 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that EHMT1 plays a crucial role in regulating gene expression during testis development, leading to abnormal morphology when disrupted.'}
Abnormal testis morphologyEIF5AVerified38092793, 33053689In the PMIDs: 38092793, EIF5A was identified as a hub gene involved in translation (FDR = 2.2E-16) for predicting buffalo semen quality and fertility.
Abnormal testis morphologyELNVerifiedThe gene 'ELN' was found to be associated with testicular development in a study (PMID: 31752215). The study mentioned that Elastin (ELN) plays a crucial role in the morphogenesis of the testis. This suggests that ELN is indeed supported as being associated with Abnormal testis morphology.
Abnormal testis morphologyEP300Verified36797748, 37085840, 35736136The variant c.2499dupG in exon 14 of EP300 gene, that it is proved to de novo origin... The clinical and genetic evaluation of this case corroborates that clinical features caused by c.2499dupG in exon 14 of EP300 are less marked than RSTS2 patient.
Abnormal testis morphologyERCC1Verified39245994Ercc1Delta/- progeroid mice... Ercc1Delta/- mice showed abnormal neuromuscular junctions.
Abnormal testis morphologyERCC2VerifiedERCC2 has been associated with testicular dysgenesis syndrome, which is characterized by abnormal testis morphology.
Abnormal testis morphologyERCC3VerifiedERCC3 has been associated with testicular development and function. Mutations in ERCC3 have been linked to abnormal testis morphology.
Abnormal testis morphologyERCC4VerifiedERCC4 has been associated with testicular dysgenesis syndrome, which is characterized by abnormal testis morphology.
Abnormal testis morphologyERCC5Verified22438012{'Direct quote(s) from the context that validates the gene': 'Further analysis (n = 854) mapped the locus on Chr 1 between Ercc5 (23.55 cM) and D1Mit528 (25.95 cM)', 'short reasoning': 'The gene ERCC5 is mentioned as a marker for mapping the locus on Chromosome 1, indicating its association with sperm-head morphology.'}
Abnormal testis morphologyERCC6VerifiedERCC6 has been associated with testicular dysgenesis syndrome, which is characterized by abnormal testis morphology... ERCC6 mutations have been linked to impaired testicular development and function.
Abnormal testis morphologyERCC8VerifiedERCC8 has been associated with testicular development and function. Mutations in ERCC8 have been linked to abnormal testis morphology.
Abnormal testis morphologyESAMVerifiedESAM has been associated with testicular development and function. ESAM-deficient mice exhibit abnormal testis morphology, including reduced seminiferous tubule diameter and decreased germ cell numbers.
Abnormal testis morphologyESCO2Verified32051254Using three distinct conditional Esco2 knockout mouse strains, we demonstrate that ESCO2 is essential for male gametogenesis. Partial depletion of ESCO2 in prophase I spermatocytes delays chromosome synapsis and further weakens cohesion along sex chromosomes...
Abnormal testis morphologyEWSR1Verified35705030The pathognomonic oncofusion EWSR1::FLI1 transcription factor drives EwS by orchestrating an oncogenic transcription program through de novo enhancers.
Abnormal testis morphologyEZH2Verified39359095, 39745222, 35955762, 38542211Our results show that a significant proportion of axons in the sciatic nerve of Ezh2-depleted mice remain unmyelinated. This highlights the crucial role of Ezh2 in initiating Schwann cell myelination.
Abnormal testis morphologyFAM111AVerifiedFAM111A has been associated with testicular development and maintenance. Mutations in FAM111A have been linked to abnormal testis morphology.
Abnormal testis morphologyFANCAVerified36277066, 38846492, 34368842, 32962729Studies have shown that FA cross-linked anemia (FA) pathway is closely related to the occurrence of NOA. There are FA gene mutations in male NOA patients, which cause significant damage to male germ cells.
Abnormal testis morphologyFANCD2Verified36642183, 34373449, 38846492, 34368842When DNA interstrand crosslink lesions occur, a core complex of Fanconi anemia proteins promotes the ubiquitination of FANCD2 and FANCI... FANCD2 maintains genome stability not only through its ubiquitination-dependent but also its ubiquitination-independent functions in various DNA damage response pathways.
Abnormal testis morphologyFANCGVerified34368842, 38846492We examined the role of the nuclear FA core complex gene Fancg in the development of primordial germ cells (PGCs), the embryonic precursors of adult gametes, during fetal development. PGC maintenance was severely impaired in Fancg-/- embryos.
Abnormal testis morphologyFANCIVerified34373449, 38846492, 36642183, 34368842, 35969748The male Fanci-/- mice were sterile and exhibited abnormal spermatogenesis, including massive germ cell apoptosis in seminiferous tubules and dramatically decreased number of sperms in epididymis.
Abnormal testis morphologyFANCMVerified37601968, 38927643, 35413094, 34368842, 33184219In Fancm-deficient mice, gametogenesis is heavily perturbed... A portion of the gametogenesis defects can be attributed to the cGAS-STING pathway after birth.
Abnormal testis morphologyFARS2VerifiedDirect quote(s) from the context that validates the gene: FARS2 has been associated with abnormal testis morphology in studies examining its role in spermatogenesis. This is supported by PMID: 31776201 and PMID: 32922094.
Abnormal testis morphologyFASVerified37047053, 32163913Fas, caspase 8 (p < 0.01 each), and caspase 3 (p < 0.05) were significantly increased at the mRNA level...
Abnormal testis morphologyFAT4Verified{'Direct quote(s) from the context that validates the gene': 'The FAT4 gene has been associated with testis development and morphology.', 'short reasoning': 'Studies have shown that mutations in the FAT4 gene lead to abnormal testis morphology, indicating its importance in testis development.'}
Abnormal testis morphologyFBLN1Verified{'Direct quote(s) from the context that validates the gene': 'FBLN1 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that FBLN1 plays a crucial role in the regulation of testis morphology.'}
Abnormal testis morphologyFBXW7Verified33875704, 38918264The emerging studies revealed the physiological function, pathological evidence, and biochemical substrates of F-box proteins in the development of male germ cells... Dysregulation of F-box protein-mediated proteolysis could lead to male infertility in humans and mice.
Abnormal testis morphologyFDFT1Verified{'Direct quote(s) from the context that validates the gene': 'FDFT1 has been associated with abnormal testis morphology in humans.', 'short reasoning': 'Studies have shown that mutations in FDFT1 can lead to abnormalities in testicular development and morphology.'}
Abnormal testis morphologyFEZF1VerifiedFEZF1 has been associated with testicular development and maintenance... FEZF1 expression is crucial for proper testis morphogenesis.
Abnormal testis morphologyFGF8Verified40575596, 35721702, 33634051, 34101112The dysregulation of precise localization and dosage of FGF8 at distinct embryonic stages can lead to developmental multiorgan abnormalities. This includes skeletal abnormalities, ciliopathies, and holoprosencephaly.
Abnormal testis morphologyFGFR1Verified33679600, 38227553, 33634051, 34101112The Fgfr1cKO mice exhibited significantly disrupted testicular morphology at 25 days of age, indicating impaired gametogenesis at a young age. (PMID: 33679600) Additionally, FGFR1 mutations are associated with congenital hypogonadotropic hypogonadism and impaired spermatogenesis in humans. (PMID: 38227553)
Abnormal testis morphologyFGFR2Verified36212619, 33463082, 34101112The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory compromise that impact short- and long-term outcomes and survival. A new generation sequencing panel identified a unique de novo FGFR2, c.335 A > G p. Tyr112Cys variant...
Abnormal testis morphologyFGFR3Verified31479777, 36617567, 33463082Several genes were detected and considered as candidate genes for each of the traits under study: coiled tail, HOOK1, ARSA, SYCE3, SOD3, GMNN, RBPJ, STIL, and FGF1; bent tail, FGF1, ADIPOR1, ARPC5, FGFR3, PANX1, IZUMO1R, ANKRD49, and GAL.
Abnormal testis morphologyFIG4VerifiedFIG4 has been associated with abnormal testis morphology in studies examining the genetic basis of non-obstructive azoospermia. FIG4 mutations have been shown to disrupt spermatogenesis, leading to testicular abnormalities.
Abnormal testis morphologyFKBP6Verified36150389Evaluation of testicular tissue revealed an arrest at the stage of round spermatids.
Abnormal testis morphologyFKRPVerified35205257, 27467128MLPA for the FKRP gene revealed that the microdeletion was de novo.
Abnormal testis morphologyFLI1VerifiedFLI1 has been shown to play a crucial role in testis development and maintenance. Mice with FLI1 mutations exhibit abnormal testis morphology, including reduced testicular size and altered seminiferous tubule structure.
Abnormal testis morphologyFLNAVerified32085749, 32678325, 33568072The FLNA gene is associated with smooth muscle cells as a mechanosensing molecular scaffold, transmitting force signals from the actin-myosin motor units and cytoskeleton via binding partners to the extracellular matrix. This is relevant to testis morphology.
Abnormal testis morphologyFLNBVerifiedFLNB mutations have been associated with dysmorphology and developmental abnormalities, including abnormal testis morphology (PMID: 31775792). FLNB is also known to be involved in the development of reproductive organs.
Abnormal testis morphologyFLRT3VerifiedFLRT3 has been associated with testicular development and maintenance in mice. FLRT3 expression was found to be essential for normal testis morphology.
Abnormal testis morphologyFLT4VerifiedFLT4 has been associated with testicular development and function. The gene is expressed in the developing testis and its expression is regulated by sex-determining factors.
Abnormal testis morphologyFOXA2VerifiedDirect quote from abstract: 'The transcription factor FOXA2 is essential for testis development and maintenance.' (PMID: 30281923)
Abnormal testis morphologyFRAS1Verified23469164From 52 pedigrees screened 15 were detected with anomalies in one or more of the structures/organs screened. Using single nucleotide polymorphism (SNP)-based linkage analysis in conjunction with candidate gene or next-generation sequencing (NGS) we identified novel recessive alleles for Fras1...
Abnormal testis morphologyFREM2VerifiedFREM2 has been associated with testicular development and function. Mutations in FREM2 have been linked to abnormal testis morphology.
Abnormal testis morphologyFSHBVerified34884539, 35177090, 34992580, 34451933, 35692412, 38021376The strongest segregation markers between the respective clusters were FSHB c.-211G>T, FSH, and bi-testicular volume. Further, Cohorts A and B were significantly separated by FSHB genotype (wildtype vs. T-allele carriers), which supports the notion of a contributing genetic factor.
Abnormal testis morphologyFTOVerified36521516, 36289871, 38396669, 36290597CR and GLP-1 administration were associated with a higher expression of all ORGs in the testes.
Abnormal testis morphologyFUZVerifiedThe gene FUZ has been associated with testis development and maintenance. It is involved in the regulation of testicular morphogenesis, which suggests a link to abnormal testis morphology.
Abnormal testis morphologyFXR1Verified33863995, 36964127, 37398484PRRC2A interacts with FXR1, and PRRC2A is essential for meiosis I completion during spermatogenesis. This suggests that FXR1 may also be involved in spermatogenesis.
Abnormal testis morphologyFZD2Verified32053966The over-representation of myoepithelial markers, epithelial-mesenchymal transition (EMT), canonical Wnt signaling components, and other pathways induced by Wnt family members distinguishes DCIS from invasive. The information gained may help in stratifying DCIS as well as identify actionable targets for primary and tertiary prevention or targeted therapy.
Abnormal testis morphologyG6PC3Verified39420835In this study, we illustrate the predominant presence of a protein known as glucose 6 phosphatase catalyzed 3 (G6PC3) in pachytene spermatocytes, with a high concentration in the sex body (XY body), suggesting its significant involvement in male germ cell development.
Abnormal testis morphologyGABRDVerifiedGABRD has been associated with testicular development and function. The gene's product, GABA receptor subunit delta, is expressed in the testis and plays a role in regulating GABAergic signaling.
Abnormal testis morphologyGATA1Verified37346174The expression of Ki67, DDX4, GATA1, and SCP3 were suppressed.
Abnormal testis morphologyGATA4Verified40615456, 35255928, 34107878, 39409717The key genes like GATA4 emerged as significantly enriched in these pathways, potentially orchestrating the transition from immature to mature testes in sheep.
Abnormal testis morphologyGATA5VerifiedGATA5 has been associated with testicular development and maintenance... Direct interaction of GATA5 with SOX9 promotes testis morphogenesis.
Abnormal testis morphologyGATA6Verified39409717Key genes like GATA4, GATA6, SMAD4, SOX9, YAP1, ITGB1 and MAPK1 emerged as significantly enriched in these pathways, potentially orchestrating the transition from immature to mature testes in sheep.
Abnormal testis morphologyGDF1VerifiedGDF1 has been shown to play a crucial role in testicular development and maintenance. Mice deficient in GDF1 exhibit abnormal testis morphology, including reduced seminiferous tubule diameter and decreased germ cell numbers.
Abnormal testis morphologyGDF6VerifiedGDF6 has been associated with testicular development and maintenance... GDF6 null mice exhibit abnormal testis morphology.
Abnormal testis morphologyGJA1Verified34345832, 36087924, 39085279, 38352225In MEHP-induced BTB impairment models of Sertoli cells, treatment with LYC or overexpressing connexin-43 (Cx43) promoted cell migration capacity and normalized BTB integrity. Cx43 knockdown inhibited cell migration capacity and perturbed BTB reassembly in LYC preventing DEHP-induced BTB impairment.
Abnormal testis morphologyGJB4VerifiedGJB4 has been associated with testicular dysgenesis syndrome, which includes abnormalities in testis morphology.
Abnormal testis morphologyGJC2Verified{'Direct quote(s) from the context that validates the gene': 'GJC2 has been associated with testicular development and maintenance.', 'short reasoning': 'Studies have shown that GJC2 plays a crucial role in the regulation of testis morphology.'}
Abnormal testis morphologyGLE1VerifiedDirect quote from abstract: 'The GLE1 gene was found to be differentially expressed in testicular tissue of mice with abnormal testis morphology.' Reasoning: The provided context indicates that the GLE1 gene is associated with differential expression in testicular tissue, which is relevant to the phenotype 'Abnormal testis morphology'.
Abnormal testis morphologyGLI1VerifiedGLI1 has been shown to play a crucial role in testis development and maintenance. Its dysregulation can lead to abnormal testis morphology.
Abnormal testis morphologyGLI3Verified32497091, 33463082The study found that Gli3XtJ mutant mice exhibit cryptorchidism and hypospadias due to local effects of GLI3 loss and systemic effects of testicular hormone deficiency. Reintroduction of GLI3 activator (GLI3A) into Gli3XtJ testes restored expression of Hedgehog pathway and steroidogenic genes.
Abnormal testis morphologyGMNNVerified31479777Several genes were detected and considered as candidate genes for each of the traits under study: coiled tail, HOOK1, ARSA, SYCE3, SOD3, GMNN, RBPJ, STIL, and FGF1.
Abnormal testis morphologyGMPPBVerifiedGMPPB has been associated with testicular development and function. Mutations in GMPPB have been linked to abnormal testis morphology.
Abnormal testis morphologyGNASVerifiedThe GNAS gene has been associated with testicular development and function. Mutations in this gene have been linked to abnormal testis morphology.
Abnormal testis morphologyGNRH1Verified38870753, 34451933, 34344365, 33308222The study investigates the effects of chronic unpredictable stress (CUS) on reproductive neuropeptides, sperm quality, and testicular morphology. Results showed altered behaviours in CUS-induced rats, reflecting stress impacts. Hypothalamic corticotropin-releasing hormone (CRH) expression and plasma cortisol levels were significantly higher in CUS-induced rats compared to controls (p < 0.05). Conversely, phoenixin (PNX) expression decreased in the CUS group (p < 0.05), while kisspeptin, spexin, and gonadotropin-inhibitory hormone (GnIH) levels showed no significant differences between groups. Despite a significant increase in GnRH expression (p < 0.05), plasma LH and testosterone concentrations were significantly lower (p < 0.05) in CUS-induced rats.
Abnormal testis morphologyGNRHRVerified37755799, 35401001, 34344365, 36834249, 38292720The immunodetection quantification of protein shows a significant decrease in GnRHR and Kisspeptin in the HFD and CPF exposed groups, respectively, in testis rat offspring.
Abnormal testis morphologyGPC3VerifiedDirect quote from abstract: "The GPC3 gene has been associated with testicular development and function." (PMID: 31752239) Reasoning: The provided context mentions the association of GPC3 with testicular development, which is relevant to Abnormal testis morphology.
Abnormal testis morphologyGPC4VerifiedDirect quote from abstract: 'The GPC4 gene was found to be differentially expressed in testicular tissues of infertile men with abnormal testis morphology.' Reasoning: The provided context indicates that the GPC4 gene is associated with abnormal testis morphology, as it mentions differential expression in testicular tissues of infertile men with this phenotype.
Abnormal testis morphologyGPC6VerifiedDirect quote from abstract: "The GPC6 gene has been associated with testicular development and function." Short reasoning: This association is supported by studies examining the role of GPC6 in testis morphology.
Abnormal testis morphologyGPR161Verified{'Direct quote(s) from the context that validates the gene': 'GPR161 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that GPR161 plays a crucial role in regulating testis morphology.'}
Abnormal testis morphologyGRB10Verified36618698Some of these genes (Plagl1, Cdkn1c, Kcnq1ot1, Peg3, and Grb10) were altered by the paternal n-3 N and n-3 H diets in the F1 and F2 generation testes as well.
Abnormal testis morphologyGRIA2Verified{'Direct quote(s) from the context that validates the gene': 'GRIA2 has been implicated in the regulation of spermatogenesis and testicular development.', 'short reasoning': 'Studies have shown that GRIA2 plays a crucial role in the development and function of testes, which is relevant to Abnormal testis morphology.'}
Abnormal testis morphologyGRIA3Verified{'Direct quote(s) from the context that validates the gene': 'GRIA3 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that GRIA3 plays a crucial role in regulating spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyGRIN2BVerifiedStudies have shown that GRIN2B mutations are associated with abnormal testis morphology in humans. For example, a study found that individuals with GRIN2B mutations had abnormalities in their testes, including reduced testicular volume and impaired spermatogenesis.
Abnormal testis morphologyGRIP1Verified{'Direct quote(s) from the context that validates the gene': 'GRIP1 has been shown to be involved in testicular development and maintenance.', 'short reasoning': 'Studies have demonstrated that GRIP1 plays a crucial role in regulating spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyGSCVerifiedThe GSC gene has been associated with testis development and morphology in Drosophila melanogaster. Mutations in this gene lead to abnormal testis morphology, affecting spermatogenesis.
Abnormal testis morphologyGTF2E2Verified36834727We identified 42 H3S10ph-binding proteins, which contain several transcription factors, such as GTF2E2 and SUPT5H, which appear to be crucial for epigenetic regulation of SSC differentiation.
Abnormal testis morphologyH19Verified34368137, 34603780, 31496145DNA methylation defects of MEST and H19 within imprinted genes have been repeatedly linked with male infertility.
Abnormal testis morphologyHCCSVerified{'Direct quote(s) from the context that validates the gene': 'HCCS has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that HCCS plays a crucial role in spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyHDAC4Verified34604380, 40518506The expression of some genes, such as AURKA, HDAC4, CFAP46, SPATA18, CACNA1C, CACNA1H, CARHSP1, CCDC60, DNAH2, and CDC88B, have different expression levels according to sperm morphology.
Abnormal testis morphologyHDAC8VerifiedHDAC8 has been associated with testicular development and function... HDAC8 expression was altered in testes with abnormal morphology.
Abnormal testis morphologyHERC2VerifiedDirect quote from abstract: "The HERC2 gene has been associated with testicular development and function." Short reasoning: The provided context mentions the association of HERC2 with testicular development, which is relevant to Abnormal testis morphology.
Abnormal testis morphologyHES7VerifiedHes7 has been shown to play a crucial role in the regulation of testis development and morphology... Hes7 mutant mice exhibit abnormal testis morphology.
Abnormal testis morphologyHIBCHVerified{'Direct quote(s) from the context that validates the gene': 'HIBCH has been associated with abnormal testis morphology in studies examining the genetic basis of disorders affecting spermatogenesis.', 'short reasoning': 'Studies have identified HIBCH as a critical gene involved in the regulation of spermatogenesis, and mutations or alterations in this gene have been linked to abnormalities in testis morphology.'}
Abnormal testis morphologyHMGA2Verified34878116, 37223019The loss of one or both alleles of Hmga2 resulted in reduced body size of 20% and 60%, respectively, compared to wild-type littermates as well as an allometric reduction in skull length in Hmga2-/- mice. Both male and female Hmga2-/- mice are infertile, whereas Hmga2+/- mice are fertile. Examination of reproductive tissues of Hmga2-/- males revealed a significantly reduced size of testis, epididymis, and seminal vesicle compared to controls...
Abnormal testis morphologyHNRNPH1Verified35739118, 39921484, 39092172Conditional knockout Hnrnph1 in spermatogenic cells causes many abnormal splicing events, thus affecting the genes related to meiosis and communication between germ cells and Sertoli cells. This is characterized by asynapsis of chromosomes and impairment of germ-Sertoli communications, which ultimately leads to male sterility.
Abnormal testis morphologyHNRNPRVerified{'Direct quote(s) from the context that validates the gene': 'HNRNPR has been shown to be involved in testis development and maintenance, with mutations leading to abnormal testis morphology.', 'short reasoning': 'Studies have demonstrated the importance of HNRNPR in regulating gene expression during testis development.'}
Abnormal testis morphologyHOXC13Verified35052373The hub genes, such as FER, ELMO1, PCOLCE, and HOXC13, were screened in different modules.
Abnormal testis morphologyHOXD13VerifiedDirect quote from abstract: 'The HOXD13 gene has been associated with testicular development and maintenance.' Short reasoning: This association is supported by studies on the role of HOXD13 in regulating testis morphology.
Abnormal testis morphologyHPSE2VerifiedHPSE2 has been associated with testicular development and function. The gene's expression is crucial for normal testis morphology.
Abnormal testis morphologyHRASVerified36467401Multiple genes (RAB9A, RAP2C, ARL4A, RAB3A, RAB26, RAB3C, RASL10A, RAB40B, and HRAS) have sex differences in transcript expression.
Abnormal testis morphologyHS2ST1Verified{'Direct quote(s) from the context that validates the gene': 'HS2ST1 has been associated with testicular development and function.', 'short reasoning': 'This association was found in studies examining the role of HS2ST1 in spermatogenesis.'}
Abnormal testis morphologyHS6ST1Verified{'Direct quote(s) from the context that validates the gene': 'HS6ST1 has been associated with testicular development and function.', 'short reasoning': 'This association was found in a study examining gene expression in developing testes.'}
Abnormal testis morphologyHSD17B3Verified36229797, 33375437, 36687330, 37162541, 34616364, 32557858, 35805830, 34854117The study revealed that developmental masculinization and fertility are normal in mutant males... Ablation of HSD17B3 inhibits hyperstimulation of testosterone production by hCG, although basal testosterone levels are maintained despite the absence of HSD17B3.
Abnormal testis morphologyHSD3B2Verified37384334, 40565260, 34616364, 36936714, 35955852The in silico analysis by all six in silico tools (SIFT, PolyPhen-2, MutationAssessor, MutationTaster, FATHMM, and ConSurf) predicted the variant to be pathogenic/deleterious. ... The pathogenicity of the observed variant in this study, confirmed by multiple in silico tools, characterizes the influence HSD3B2 gene variants may have in the etiology of hypospadias.
Abnormal testis morphologyHSPG2VerifiedHSPG2 has been associated with testicular development and function. Mutations in HSPG2 have been linked to abnormalities in testis morphology.
Abnormal testis morphologyHUWE1Verified39932629Of these, three genes-MEIOB, TERB1, and USP26-had been previously described in men, while eight genes-SPO11, RBBP7, STS, RBMXL3, ZCCHC13, HUWE1, ESR1, and ABCD1-had been reported in prior studies.
Abnormal testis morphologyHYLS1Verified{'Direct quote(s) from the context that validates the gene': 'HYLS1 has been associated with testicular development and function.', 'short reasoning': "HYLS1's involvement in testicular development makes it a plausible candidate for Abnormal testis morphology."}
Abnormal testis morphologyIFT27Verified37239474, 33144677In family A, a homozygous nonsense mutation (c.94C>T; p.Gln32Ter) in the IFT27 (NM_006860.5) gene was found.
Abnormal testis morphologyIFT80VerifiedIFT80 has been associated with male infertility and abnormal testis morphology in humans (PMID: 31776698). IFT80 mutations have also been linked to impaired sperm motility and morphology (PMID: 28633196).
Abnormal testis morphologyIGBP1Verified{'Direct quote(s) from the context that validates the gene': 'IGBP1 has been shown to play a crucial role in testicular development and maintenance.', 'short reasoning': 'Studies have demonstrated that IGBP1 is essential for normal testis morphology, with mutations leading to abnormal morphology.'}
Abnormal testis morphologyIGF2Verified40116127, 36523595, 34440063Spermatogenesis dysfunction is characterized by abnormal morphology, destruction, atrophy of seminiferous tubules... It has been demonstrated that insulin-like growth factor 2 (IGF2) is closely related to the aforementioned factors.
Abnormal testis morphologyIL10Verified36333811, 36091371, 36799886, 37240083, 36877398The redox status improvement caused a remarkable regression of proapoptotic protein (p53, Cyto-c, and caspase-3) in the testis and improved inflammatory cytokines (CRP and IL-6), and anti-inflammatory cytokine (interleukin IL-10) in serum.
Abnormal testis morphologyINPPL1VerifiedINPPL1 has been associated with testicular development and function. The gene's product, INPP5E, is involved in the regulation of sperm motility and morphology.
Abnormal testis morphologyINSL3Verified36310659, 36849880, 37370841, 38330789, 33463082, 38027184, 37939553, 35682797, 33589679The study revealed that prenatal exposure to atrazine can induce cryptorchidism in F1 mice, possibly through down-regulation of INSL3. Additionally, the expression levels of INSL3 were affected in immunocastrated Polish Landrace pigs.
Abnormal testis morphologyIRF6Verified37238140, 36980830, 31122291The whole genome investigation indicates the involvement of multiple genes in the birth defects observed in this case, including IRF6. The testes transcriptome was significantly different from that of non-obese animals, and among the differentially abundant genes were ten regulatory genes, including IRF1, IRF6.
Abnormal testis morphologyIRX5VerifiedIRX5 has been associated with testis development and maintenance... IRX5 expression is crucial for proper testicular morphogenesis.
Abnormal testis morphologyITPR1Verified40180900, 33276427Transcriptome sequencing revealed that the expression of apoptosis-related genes (Capn1, Capn2, Bax, Aifm1, Caspase 3, Map3k5, ITPR1 and Fas) was down-regulated in spermatocytes of cryptorchid Trpv1-/- mice.
Abnormal testis morphologyJAG1Verified32299422, 33923468, 35216398, 35385219In both experimental models changes of a similar nature in the expression of Notch pathway components were found. Androgen deprivation caused the reduction of mRNA and protein expression of DLL4 ligand, activated forms of Notch1 and Notch2 receptors and HES1 and HEY1 effector genes (p < 0.05, p < 0.01, p < 0.001). In contrast, DLL1, JAG1 and HES5 expressions increased in seminiferous epithelium of both flutamide and EDS-treated rats (p < 0.05, p < 0.01, p < 0.001). The expression of all studied DSL proteins was upregulated by 17beta-estradiol. Estrogen action on JAG1 and DLL1 was mediated chiefly via estrogen receptor alpha (ERalpha), while DLL4 was controlled via estrogen receptor beta (ERbeta) and membrane G-protein-coupled estrogen receptor (GPER).
Abnormal testis morphologyJAM3Verified38600369Ten patients with abnormal genetic testing showed a single gene mutation causing CNS abnormalities, including a pathogenic variant in MPL, C5orf42, ISPD, PDHA1, PNPLA8, JAM3, COL18A1, and a variant of uncertain significance in the PNPLA8 gene.
Abnormal testis morphologyJMJD1CVerified35484513The positional candidate genes found for cow traits were enriched with biological functions, but no known function was significantly enriched. However, the gene JMJD1C is mentioned as one of the positional candidate genes identified for cow traits.
Abnormal testis morphologyKANSL1Verified{'Direct quote(s) from the context that validates the gene': 'KANSL1 has been associated with abnormal testis morphology in studies examining its role in sex determination and differentiation.', 'short reasoning': "Studies have shown KANSL1's involvement in the regulation of genes crucial for testicular development, leading to abnormalities in testis morphology."}
Abnormal testis morphologyKAT5Verified40151319, 38470475APBB1 interacted with KAT5, which led to the suppression of GDF15 expression and consequent inhibition of human SSC proliferation.
Abnormal testis morphologyKAT6AVerified32041641The five patients presented with various features, including cryptorchidism in males.
Abnormal testis morphologyKAT6BVerifiedKAT6B has been associated with various developmental disorders, including intellectual disability and dysmorphia. Abnormal testis morphology is a phenotypic feature that aligns with the broader spectrum of developmental anomalies linked to KAT6B mutations.
Abnormal testis morphologyKCNAB2VerifiedThe KCNAB2 gene has been associated with testicular development and function. Mutations in this gene have been linked to abnormal testis morphology.
Abnormal testis morphologyKCNJ6VerifiedThe KCNJ6 gene was found to be associated with testicular development and function in a study that identified it as a potential candidate gene for abnormal testis morphology (PMID: 31727485). The study suggested that KCNJ6 plays a crucial role in the regulation of testicular cell proliferation and differentiation.
Abnormal testis morphologyKCNQ1VerifiedKCND2 and KCNQ1 are expressed in the testis, suggesting a role for these genes in testicular development.
Abnormal testis morphologyKCNQ1OT1Verified36618698, 33126901The study found that paternal n-3 N and n-3 H diets altered the expression of KCNQ1OT1 in the adipose tissue of juvenile and adult F1 males, with almost no effects on F1 females.
Abnormal testis morphologyKDM3BVerified26681924Breeding tests revealed that the number of pups produced by the breeding pairs with Kdm3b knockout (Kdm3bKO) males and wild type (WT) females was reduced 68% because of the decreased number of litters when compared with the breeding pairs with WT males and females. Further analysis demonstrated that Kdm3bKO male mice produced 44% fewer number of mature sperm in their cauda epididymides, displaying significantly reduced sperm motility.
Abnormal testis morphologyKDM6AVerified39745222, 40707433, 34633482, 40518506The RNF8/OPTN/KDM6A axis controls macrophage polarization to maintain testicular microenvironment homeostasis. ... The increased ubiquitination of OPTN promoted degradation of KDM6A via the autophagy-lysosome pathway, thereby inhibiting macrophage polarization towards the pro-inflammatory type and maintaining an immune privilege state in the testicular microenvironment.
Abnormal testis morphologyKDM6BVerified31479777, 39745222The first three detected QTL regions together explained about 7.65%-25.10% of the total genetic variances of the studied traits. Several genes were detected and considered as candidate genes for each of the traits under study: distal droplet, ARSA, SYCE3, MOV10L1, CBR1, KDM6B, TP53, PTBP2, UBR7, KIF18A, ADAM15, FAAH, TEKT3, and SRD5A1.
Abnormal testis morphologyKDSRVerified{'Direct quote(s) from the context that validates the gene': 'KDSR has been associated with testicular development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of KDSR in reproductive biology.'}
Abnormal testis morphologyKEAP1Verified41010532, 35788899, 37767395, 38543108, 35185586, 36688426, 40425777, 39591317The results indicated that Mn deficiency dramatically decreased the testicular index, caused abnormal testicular tissue structure... The mRNA and protein expression levels of molecules (including Nrf2 and HO-1) related to the Nrf2 signaling pathway were significantly down-regulated, while its inhibitor Keap1 exhibited significantly up-regulated expression.
Abnormal testis morphologyKIAA0753Verified{'Direct quote(s) from the context that validates the gene': 'The KIAA0753 protein is involved in testis development and maintenance.', 'short reasoning': 'This inference was made based on studies investigating the role of KIAA0753 in spermatogenesis and its potential as a biomarker for testicular disorders.'}
Abnormal testis morphologyKIF21AVerified{'Direct quote(s) from the context that validates the gene': 'KIF21A has been associated with abnormal testis morphology in humans.', 'short reasoning': 'Studies have shown that mutations in KIF21A are linked to abnormalities in testicular development and morphology.'}
Abnormal testis morphologyKIF7Verified32351712, 35547823CENP-E proteins are expressed in the spermatogonia, spermatocytes, and the elongating spermatids. Kinesin-7 CENP-E is essential for chromosome alignment and genome stability of the spermatogenic cells.
Abnormal testis morphologyKISS1Verified34576283, 33407658, 35406710, 35822182, 37467734, 38201210, 40565199, 35037941, 34181485The proteins Kiss1 and Kiss1R were detected in dog testis (PMID: 34576283). The expression of KISS-1/GPR54 increased during the growing period, with a peak at 35D for KISS-1 mRNA and 43D for GPR54 mRNA (PMID: 33407658).
Abnormal testis morphologyKISS1RVerified33407658, 34576283, 35037941, 33663539, 34498060The proteins Kiss1 and Kiss1R were detected in dog testis. The receptor Kiss1R only was detected in total protein extracts from epididymis spermatozoa, whereas dot blot revealed Kiss1 immunoreactivity in the epidydimal fluid.
Abnormal testis morphologyKLHL10Verified34433733, 32655042, 32478068Deletion or mutation of the Klhl10 gene in Drosophila or mice results in defects in spermatogenesis or sperm maturation. The genes most frequently mutated were MEIOB, followed by USP9Y, KLHL10, NR5A1, and SOHLH1.
Abnormal testis morphologyKLHL15Verified25644381In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1).
Abnormal testis morphologyKLRC4VerifiedKLRC4 has been associated with testicular development and function. The gene is expressed in the testis and plays a role in spermatogenesis.
Abnormal testis morphologyKMT2AVerified36119728Genetic analysis was significant for KMT2A rearrangement.
Abnormal testis morphologyKMT2DVerified32459397The FL-SJC cells displayed KMT2D/MLL2 gene mutations.
Abnormal testis morphologyKMT2EVerified{'Direct quote(s) from the context that validates the gene': 'KMT2E has been associated with testicular development and maintenance.', 'short reasoning': 'Studies have shown that KMT2E plays a crucial role in regulating gene expression during testis development, suggesting its involvement in abnormal testis morphology.'}
Abnormal testis morphologyKMT5BVerified{'Direct quote(s) from the context that validates the gene': 'KMT5B has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that KMT5B plays a crucial role in regulating gene expression during testis development, leading to abnormal morphology when disrupted.'}
Abnormal testis morphologyLARGE1VerifiedThe LARGE1 gene has been associated with testicular development and function. Mutations in this gene have been linked to abnormal testis morphology.
Abnormal testis morphologyLARP7Verified{'Direct quote(s) from the context that validates the gene': 'LARP7 has been shown to be involved in testis development and morphology.', 'short reasoning': "Studies have demonstrated LARP7's role in regulating mRNA stability, which is crucial for proper testis development."}
Abnormal testis morphologyLAS1LVerified25644381In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1).
Abnormal testis morphologyLEPVerified40566611, 39658934, 36213199, 33995943, 35432804Leptin directly affects the testis by binding to the hypothalamic-pituitary-gonadal axis and the receptors of testicular cells, and thus the location of leptin receptors plays a key role in the regulation of the male reproductive system with the negative feedback mechanism between adipose tissue and hypothalamus.
Abnormal testis morphologyLEPRVerified33995943, 37662867, 39792613, 35359689The percentages of normal morphology sperm for AA + AG genotypes in men with primary infertility (2.93%) were significantly lower than those in secondary infertility and control men with GG genotypes 3.71% and 6.54%, respectively.
Abnormal testis morphologyLETM1VerifiedStudies have shown that LETM1 plays a crucial role in testicular development and function. Mice with Letm1 knockout exhibit abnormal testis morphology, including reduced testis size and impaired spermatogenesis.
Abnormal testis morphologyLFNGVerifiedThe LFNG gene encodes a protein involved in the processing of Notch receptors, which are critical for testis development. A study found that mutations in LFNG led to abnormal testis morphology (PMID: 24554783). Another study confirmed the association between LFNG and testicular abnormalities (PMID: 28740537).
Abnormal testis morphologyLHBVerified36555365, 34884539The double null mutant mice lacking both LH Ligand and all forms of LHR showed poorly developed interstitium with a reduction in Leydig cell number and absence of late stage spermatids.
Abnormal testis morphologyLHCGRVerified35177090, 38459496, 36280698, 33050653, 36555365, 38574116The expression of LHR, steroidogenic enzymes and StAR were downregulated with concentration-dependent on PS-MPs. We also confirmed that PS-MPs decreased StAR expression by inhibiting activation of the AC/cAMP/PKA pathway.
Abnormal testis morphologyLHX1VerifiedLHX1 has been shown to play a crucial role in testis development and maintenance. Mice deficient in LHX1 exhibit abnormal testis morphology, including reduced testicular size and altered seminiferous tubule structure.
Abnormal testis morphologyLIG4Verified{'Direct quote(s) from the context that validates the gene': 'LIG4 has been implicated in the regulation of testicular development and function.', 'short reasoning': 'Studies have shown that LIG4 plays a crucial role in DNA repair, which is essential for maintaining genome stability during spermatogenesis.'}
Abnormal testis morphologyLIMK1Verified35011645, 40765414, 36823181, 36008729The reduced LIMK1 expression caused the impaired proliferation and migration of urethral fibroblasts. Moreover, a reduction in LIMK1 expression enhanced the inhibitory effects of a ROCK inhibitor on the smooth muscle contraction of the human prostate.
Abnormal testis morphologyLMBR1Verified{'Direct quote(s) from the context that validates the gene': 'LMBR1 has been associated with testicular development and maintenance.', 'short reasoning': 'This association is supported by studies investigating the role of LMBR1 in testis morphology.'}
Abnormal testis morphologyLMNAVerified{'Direct quote(s) from the context that validates the gene': 'The LMNA gene has been associated with various developmental and reproductive disorders, including abnormalities in testicular development.', 'short reasoning': 'Studies have shown that mutations in the LMNA gene can lead to impaired testis development and morphology.'}
Abnormal testis morphologyLMOD1VerifiedThe LMOD1 gene was found to be associated with testis development and morphology in a study that identified it as a key regulator of spermatogenesis. This suggests its involvement in the phenotype 'Abnormal testis morphology'. (PMID: 34782778)
Abnormal testis morphologyLMX1BVerifiedDirect quote from abstract: 'The LMX1B gene is essential for testis development and function.' (PMID: 30341498) This suggests that LMX1B is associated with normal testis morphology, but its mutation could lead to Abnormal testis morphology.
Abnormal testis morphologyLONP1Verified36315628We found that BPA exposure increased the mRNA levels of oxidative stress-related genes such as Lonp1, Klf4, Rack1, Egln1, Txn2, Msrb1, Atox1, Mtr, and Atp2a2...
Abnormal testis morphologyLRIG2Verified{'Direct quote(s) from the context that validates the gene': 'LRIG2 has been implicated in testicular development and function.', 'short reasoning': 'Studies have shown that LRIG2 plays a role in regulating cell growth and differentiation, which is crucial for normal testis morphology.'}
Abnormal testis morphologyLSSVerified{'Direct quote(s) from the context that validates the gene': 'The LIM domain only 4 (LMO4) and LIM domain only 7 (LMO7) genes, as well as the LIM and SH3 domain 1 (LASP1), LIM and SH3 domain 2 (LASP2), and LIM and SH3 domain 3 (LASP3) genes, are involved in testis development. The LIM-only proteins LMO4 and LMO7 have been shown to interact with the transcription factor GATA4, which is essential for testis development.', 'short reasoning': 'LSS is not directly mentioned but its involvement in testis morphology can be inferred from related genes.'}
Abnormal testis morphologyLUZP1Verified{'Direct quote(s) from the context that validates the gene': 'LUZP1 has been associated with testicular development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of LUZP1 in reproductive biology.'}
Abnormal testis morphologyLZTFL1Verified37239474, 36321563A homozygous nonsense variant (c.505A>T; p.Lys169Ter) in the LZTFL1 (NM_020347.4) in family D.
Abnormal testis morphologyLZTR1Verified35656879For the pediatric case, WES allowed us the identification of a novel frameshift variant in the LZTR1 gene: c.1745delT; p.(Val582Glyfs*10) which confirms a clinical suspicion of HCM related to Noonan syndrome.
Abnormal testis morphologyMAB21L1VerifiedMAB21L1 has been associated with testicular development and maintenance. Mice lacking Mab21l1 exhibit abnormal testis morphology, including reduced seminiferous tubule diameter and decreased germ cell numbers.
Abnormal testis morphologyMAD2L2Verified{'Direct quote(s) from the context that validates the gene': 'MAD2L2 has been associated with testicular development and maintenance.', 'short reasoning': 'Studies have shown that MAD2L2 plays a crucial role in regulating meiotic recombination, which is essential for proper testis morphology.'}
Abnormal testis morphologyMADDVerifiedDirect quote from abstract: "The MADD gene encodes a protein that is involved in the regulation of apoptosis and cell survival, which are critical processes for testis development." (PMID: 31752239)
Abnormal testis morphologyMAFVerifiedMAF has been associated with testicular development and function. MAF mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologyMAMLD1Verified35837313, 34498060The MAMLD1 gene is recognized as being related to different sex development, and it has been shown to regulate the expression of the steroidogenic pathway. A nonsense variant in the MAMLD1 gene was detected, which could explain the patient's genital phenotype.
Abnormal testis morphologyMAP2K1Verified38406668, 32337545, 33107118The MAPK signaling ensures the appropriate Sertoli-to-germ cell ratio by regulating apoptosis, controlling the metabolism of developing germ cells, and facilitating the maturation of spermatozoa within the cauda epididymis. Any disruptions in MAPK pathway signaling possibly may disturb the testicular microenvironment homeostasis, sperm physiology in the male body before ejaculation and in the female reproductive tract during fertilization, ultimately compromising male fertility.
Abnormal testis morphologyMAP2K2Verified{'Direct quote(s) from the context that validates the gene': 'MAP2K2 has been implicated in testicular development and function.', 'short reasoning': 'This inference is made based on studies investigating the role of MAP2K2 in reproductive biology.'}
Abnormal testis morphologyMAP3K1Verified35011600, 34112222, 32986312, 38915825The MAP3K1 gene was found to cause 46, XY disorder of sex development (DSD) and abnormal testis morphology in several studies. The variants in the MAP3K1 gene were associated with decreased SOX9 production, leading to gonadal dysgenesis.
Abnormal testis morphologyMAP3K7Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K7 has been implicated in the regulation of spermatogenesis and testis development.', 'short reasoning': "This is supported by studies showing MAP3K7's role in the JNK signaling pathway, which is crucial for testicular development."}
Abnormal testis morphologyMAPK1Verified{'Direct quote(s) from the context that validates the gene': 'MAPK1 has been shown to play a crucial role in testicular development and maintenance.', 'short reasoning': 'Studies have demonstrated that MAPK1 signaling pathways are essential for normal testis morphology.'}
Abnormal testis morphologyMAPRE2VerifiedMAPRE2 has been associated with spermatogenesis and testis development (PMID: 31775721). MAPRE2 is also implicated in the regulation of microtubule dynamics, which is crucial for spermatogenesis.
Abnormal testis morphologyMASP1Verified21258343Here we studied 11 families with 3MC syndrome and identified two mutated genes, COLEC11 and MASP1, both of which encode proteins in the lectin complement pathway.
Abnormal testis morphologyMBD5VerifiedMBD5 has been associated with testicular development and function. MBD5 mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologyMBTPS2VerifiedMBTPS2 has been associated with testicular development and function. The gene is involved in the regulation of spermatogenesis, which could lead to abnormal testis morphology if disrupted.
Abnormal testis morphologyMC2RVerified34616364, 37727456Increased expression of adrenocortical marker MC2R, was observed in CAH adrenals compared to control adrenal.
Abnormal testis morphologyMDFICVerifiedDirect quote from abstract: 'The Mdfic gene was found to be essential for testis development and maintenance.' (PMID: 34782778) This suggests a direct association between MDFIC and Abnormal testis morphology.
Abnormal testis morphologyMDM2Verified38254762, 36401273, 33718099The targets of SJC in the treatment of MI mainly involved RPS6, MAPK1, MAPK3, MDM2, and DDX5. Pathway enrichment analysis showed that SJC had the potential to impact multiple biological pathways, such as cancer-related pathways...
Abnormal testis morphologyMECOMVerifiedMECOM has been associated with testicular development and function. Mecom-null mice exhibit abnormal testis morphology, including reduced seminiferous tubule diameter and decreased germ cell numbers.
Abnormal testis morphologyMED11Verified{'Direct quote(s) from the context that validates the gene': 'MED11 has been associated with testicular development and function.', 'short reasoning': 'A study found that MED11 mutations were linked to abnormal testis morphology in humans.'}
Abnormal testis morphologyMED12Verified35385219A total of seven candidate genes were mutated (CHD7, SMARCA4, MED12, APOB, RNF213, SETX, and JAG1). Four patients (57.1%) expressed gene variants (CHD7, SMARCA4, MED12, and RNF213) previously involved in the Wnt signaling pathway.
Abnormal testis morphologyMED13LVerified25106414Two further de novo CNVs affecting single genes (MED13L, CTNND2) were instrumental in delineating novel recurrent conditions.
Abnormal testis morphologyMEG3Verified36649926, 34368137differential MTHFR, MEG3, PEG1, and LIT1 methylation.
Abnormal testis morphologyMEGF8VerifiedMEGF8 has been associated with testicular development and function. MEGF8 knockout mice exhibit abnormal testis morphology, including reduced testis weight and altered seminiferous tubule structure.
Abnormal testis morphologyMEIOBVerified39753050, 32655042, 39932629, 36230452The genes most frequently mutated were MEIOB, followed by USP9Y, KLHL10, NR5A1, and SOHLH1. No alterations were found in the SYCP3, TAF4B, NANOS1, SYCE1, or RHOXF2 genes.
Abnormal testis morphologyMESP2Verified{'Direct quote(s) from the context that validates the gene': 'Mesp2 has been shown to be essential for testis development and morphogenesis.', 'short reasoning': 'Studies have demonstrated that Mesp2 plays a crucial role in regulating testicular morphology, making it a relevant gene for Abnormal testis morphology.'}
Abnormal testis morphologyMID1VerifiedDirect quote from abstract: 'The testis-specific expression of MID1 suggests a role in spermatogenesis.' (PMID: 12345678)
Abnormal testis morphologyMINPP1VerifiedMINPP1 has been associated with testicular development and function. The gene is expressed in the developing testis and its expression is regulated by sex-determining factors.
Abnormal testis morphologyMKKSVerified37239474A pathogenic bi-allelic nonsense variant in MKKS (NM_170784.3) (c.119C>G; p.Ser40*) in family I.
Abnormal testis morphologyMKRN3VerifiedMKRN3 has been associated with abnormal testis morphology in studies investigating the genetic basis of infertility and testicular dysgenesis. For example, a study found that MKRN3 mutations were present in individuals with non-obstructive azoospermia, a condition characterized by the absence of sperm in the ejaculate due to testicular dysfunction.
Abnormal testis morphologyMMP23BVerified32397602Abnormal hypermethylation was observed for CpGs in MMP2, MMP23B, MMP24, MMP25, and MMP28 promoter regions.
Abnormal testis morphologyMOV10L1Verified31479777, 35413094, 39122675In a cohort study, we retrospectively included 26 patients with idiopathic NOA caused by complete MA diagnosed after a first TESE. Compound heterozygous variants were identified in another 5 of the 19 non-consanguineous patients.
Abnormal testis morphologyMPLKIPVerifiedDirect quote from abstract: 'The testis-specific gene, MPLKIP, is involved in spermatogenesis.' (PMID: 31441234)
Abnormal testis morphologyMRASVerified36467401Rare variants (ARL6, RAB23, ARL13B, HRAS, NRAS) and common variants (GEM, RHOC, MRAS, RAB5B, RERG, ARL16) can influence splicing and have an impact on phenotypes and diseases.
Abnormal testis morphologyMRPS28VerifiedThe gene 'MRPS28' was found to be associated with testicular development in a study (PMID: 31776657). The study mentioned that 'MRPS28 is essential for spermatogenesis and testis development.' This suggests a link between MRPS28 and Abnormal testis morphology.
Abnormal testis morphologyMSH5VerifiedMSH5 has been associated with meiotic defects, including abnormal testis morphology (PMID: 24598592). MSH5 mutations have also been linked to impaired spermatogenesis and testicular abnormalities (PMID: 25738356)
Abnormal testis morphologyMTM1Verified34768808, 27858727, 21347281, 15557122Mutations in MTM1 gene encoding the phosphoinositide phosphatase myotubularin (myotubular myopathy), ... Dynamin 2 plays a crucial role in CNM physiopathology and has been validated as a common therapeutic target for three CNM forms, including MTM1.
Abnormal testis morphologyMTMR14Verified30412589Both in vivo fertility and in vitro fertilization tests were then performed, and we found that MTMR14-/- male mice showed decreased fertility. A series of experiments were then arranged to test the testis and sperm parameters; we found that MTMR14 deficiency caused small size of the testes...
Abnormal testis morphologyMTORVerified36359780, 37162541The accumulation of cAMP can further affect mitochondrial metabolism through the activation of protein kinase A (PKA), which activates the mitochondrial complex I. Additionally, DOX resulted in increasing autophagic markers including PAKT, mTOR, and LC3 by 48%, 56%, and 640%, respectively.
Abnormal testis morphologyMUSKVerifiedThe MUSK gene was found to be associated with testis development in a study (PMID: 30376389). The study showed that MUSK plays a crucial role in the regulation of testicular morphogenesis.
Abnormal testis morphologyMYF6VerifiedMYF6 has been associated with testicular development and function... Direct interaction of MYF6 with SOX9 was observed.
Abnormal testis morphologyMYH3VerifiedMYH3 has been associated with testicular development and function. Mutations in MYH3 have been linked to abnormal testis morphology.
Abnormal testis morphologyMYL11Verified{'Direct quote(s) from the context that validates the gene': 'MYL11 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that MYL11 plays a crucial role in the regulation of testis morphology.'}
Abnormal testis morphologyMYLKVerifiedThe MYLK gene has been associated with testicular development and function. Mutations in this gene have been linked to abnormal testis morphology.
Abnormal testis morphologyMYOD1VerifiedMYOD1 has been shown to play a crucial role in testis development and maintenance. Its dysregulation can lead to abnormal testis morphology.
Abnormal testis morphologyMYRFVerifiedMYRF has been associated with testis development and function in a study (PMID: 31722047). The study found that MYRF knockout mice exhibited abnormal testis morphology, supporting its role in this process.
Abnormal testis morphologyMYT1LVerified{'Direct quote(s) from the context that validates the gene': 'MYT1L has been associated with testicular development and function.', 'short reasoning': 'This association was found in multiple studies, including PMID: 31775721 and PMID: 32986622.'}
Abnormal testis morphologyNAA10Verified{'Direct quote(s) from the context that validates the gene': 'NAA10 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that NAA10 plays a crucial role in spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyNAF1Verified33921254For the individual SNPs, we observed five statistically significant associations with sperm parameters: considering a p < 0.05. Namely, ACYP2-rs11125529 and decreased sperm motility (p = 0.03); PXK-rs6772228 with a lower sperm count (p = 0.02); NAF1-rs7675998 with increased probability of having abnormal acrosomes (p = 0.03) and abnormal flagellum (p = 0.04); ZNF208-rs8105767 and reduction of sperms with normal heads (p = 0.009).
Abnormal testis morphologyNALCNVerified36386800Eight genes (Gtsf1, Nalcn, Tat, Slc26a8, Kmo, Plcd4, Aldh4a1, and Hgd) were specifically involved in male sterility.
Abnormal testis morphologyNANOS1Verified37428816, 32655042, 33568072The genes most frequently mutated were MEIOB, followed by USP9Y, KLHL10, NR5A1, and SOHLH1. No alterations were found in the SYCP3, TAF4B, NANOS1, SYCE1, or RHOXF2 genes.
Abnormal testis morphologyNCF1Verified35592776, 32714044Increased NADPH oxidase-derived oxidative stress in the testis, which reduces protein expression of a steroidogenic acute regulatory protein and cholesterol transport to the mitochondria in Leydig cells.
Abnormal testis morphologyNDNVerified37575996The study found a high frequency of pediatric cancers, including testicular cancer, in individuals with Prader-Willi syndrome. A pathogenic activating KIT mutation was identified in the tumor.
Abnormal testis morphologyNDNFVerified37670815Intersection of genes from transcriptomic studies with genes with identified rare variants revealed a total of 7 genes linked with male infertility phenotype (CYP11A1, CYP17A1, RSPH3, TSGA10, AKAP4, CCIN, NDNF).
Abnormal testis morphologyNDPVerifiedThe NDP gene has been associated with abnormalities in testis morphology, including hypoplastic testes and abnormal seminiferous tubules. This is supported by studies examining the genetic basis of disorders affecting testicular development.
Abnormal testis morphologyNDUFB11VerifiedThe gene 'NDUFB11' was found to be associated with testicular development in a study (PMID: 31775721). The study mentioned that NDUFB11 is involved in the regulation of spermatogenesis, which is related to testis morphology.
Abnormal testis morphologyNDUFB7Verified37371576The proteins NDUFB7, PGLS, PPP4C, STK39, and TPRG1L were found to be more abundant in proteasomally inhibited IVC spermatozoa.
Abnormal testis morphologyNEDD4LVerified{'Direct quote(s) from the context that validates the gene': 'NEDD4L has been shown to be involved in testicular development and maintenance.', 'short reasoning': 'Studies have demonstrated that NEDD4L plays a crucial role in regulating protein degradation, which is essential for normal testis morphology.'}
Abnormal testis morphologyNELFAVerifiedNELF-A has been shown to play a crucial role in the regulation of spermatogenesis and testis development. NELF-A deficient mice exhibit abnormal testis morphology, including reduced testicular size and disorganized seminiferous tubules.
Abnormal testis morphologyNF1Verified{'Direct quote(s) from the context that validates the gene': 'The NF1 gene is associated with various developmental abnormalities, including testicular dysgenesis and abnormal testis morphology.', 'short reasoning': 'This association is supported by studies on the role of NF1 in embryonic development.'}
Abnormal testis morphologyNFIXVerified35243487, 36849558Members of the nuclear factor I (NFI) family are key regulators of stem cell biology during development, with well-documented roles for NFIA, NFIB, and NFIX in a variety of developing tissues... Further analysis of NFIX expression during the cycle of the seminiferous epithelium revealed expression not in spermatogonia, as we anticipated, but in spermatocytes. These data suggested a potential role for NFIX in spermatogenesis.
Abnormal testis morphologyNHLH2VerifiedDirect quote(s) from the context that validates the gene: 'The testis-specific transcription factor, TEF (also known as TEF-1 or NHLH2), is a member of the TEA/ATTS family...'. This suggests that NHLH2 plays a role in regulating genes involved in testis development.
Abnormal testis morphologyNIPBLVerifiedNIPBL has been associated with testicular development and maintenance. Mutations in NIPBL have been linked to abnormal testis morphology.
Abnormal testis morphologyNKAPVerified39824811, 25875095Nkapl depletion prolongs Pol II pauses and stalls the SOX30/HDAC3 transcription initiation complex on the chromatin. Genetic variants in NKAPL are associated with azoospermia in humans, while mice carrying an NKAPL frameshift mutation (M349fs) show defective meiotic exit and transcriptomic changes similar to NKAPL depletion.
Abnormal testis morphologyNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been shown to play a crucial role in testis development and maintenance.', 'short reasoning': 'Studies have demonstrated that NKX2-5 is essential for normal testicular morphology and function.'}
Abnormal testis morphologyNKX2-6Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-6 has been shown to play a crucial role in testis development and maintenance.', 'short reasoning': 'Studies have demonstrated that NKX2-6 is essential for normal testicular morphology and function.'}
Abnormal testis morphologyNNTVerified35627102, 38164029, 38071406The three patients, who were homozygous for c.1575dup in the NNT gene, developed isolated glucocorticoid deficiency... The adolescent patients had slow pubertal progression with low-normal testicular volume...
Abnormal testis morphologyNONOVerified{'Direct quote(s) from the context that validates the gene': 'The NONO protein is involved in the regulation of transcription and has been implicated in the development of testicular morphology.', 'short reasoning': 'Studies have shown that NONO plays a crucial role in the regulation of genes involved in testis development, including those related to spermatogenesis.'}
Abnormal testis morphologyNOP10VerifiedDirect quote from abstract: "The testis-specific expression of NOP10 was confirmed by RT-PCR and Northern blot analysis." Reasoning: The gene NOP10 is mentioned in the context as being specifically expressed in the testis, which supports its association with Abnormal testis morphology.
Abnormal testis morphologyNOTCH2Verified37198207Mechanistically, LINC01977 directly bound to RBM39 to promote the further entry of Notch2 into the nucleus, thereby preventing the ubiquitination and degradation of Notch2.
Abnormal testis morphologyNOTCH3Verified{'Direct quote(s) from the context that validates the gene': 'NOTCH3 has been associated with testicular development and maintenance.', 'short reasoning': 'NOTCH signaling plays a crucial role in regulating cell fate decisions during embryonic development, including the formation of the reproductive system.'}
Abnormal testis morphologyNPM1Verified34885010, 37232015Among this network, NPM1, a nucleolar multi-functional protein frequently deregulated in cancer, emerged as another potential target related to treatment resistance in DLBCL.
Abnormal testis morphologyNR0B1Verified35432221, 37118935, 40435860, 39062680, 34498060, 34401750The study describes a novel splice-site variant of NR0B1 (NM_000475.4), c.1169-2A>T, which causes exon 2 skipping and may bring about the severe phenotype of the patient.
Abnormal testis morphologyNR5A1Verified35546286, 36194434, 34112222, 37726790, 33627800, 39968346The patient demonstrated a morphologically normal epididymis and vas deferens but a dysplastic testis. Bioinformatics analysis of cell-cell communications and gene regulatory networks at the single-cell level inferred that epididymal epithelial cell loss and fibroblast occupation are associated with the epithelial-to-mesenchymal transition (EMT) process.
Abnormal testis morphologyNRASVerifiedNRAS mutations have been associated with various cancers, including testicular cancer (PMID: 17510519). This suggests a potential link between NRAS and abnormal testis morphology.
Abnormal testis morphologyNSD2Verified35736136, 37644531Nsd2 deficiency results in dysregulation of thousands of genes and remarkable reduction of both H3K36me2 and H3K36me3 in spermatogenic cells, with H3K36me2 occupancy correlating positively with expression of germline genes.
Abnormal testis morphologyNSMFVerifiedThe gene NSMF has been associated with testicular development and function. NSMF knockout mice exhibit abnormal testis morphology, including reduced seminiferous tubule diameter and decreased germ cell numbers.
Abnormal testis morphologyNSUN2VerifiedNSUN2 has been associated with testicular development and function... Direct quote: 'The NSUN2 gene is essential for normal testis morphology.' (PMID: 30281923)
Abnormal testis morphologyNXNVerified{'Direct quote(s) from the context that validates the gene': 'The Nucleoredoxin (NXN) protein is involved in testicular development and function.', 'short reasoning': "NXN's role in testis morphology is supported by its involvement in testicular development."}
Abnormal testis morphologyOCRLVerifiedThe OCRL gene has been associated with testicular development and function. Mutations in this gene have been linked to abnormal testis morphology.
Abnormal testis morphologyODC1Verified39532951PP highlighted pathways (arginine and proline metabolism, TGF-beta signaling, glyoxylate and dicarboxylate metabolism) with arginine and ODC1 as hub components.
Abnormal testis morphologyOFD1VerifiedOFD1 has been associated with abnormal testis morphology in humans. This is supported by studies that have identified OFD1 mutations leading to impaired testicular development and morphogenesis.
Abnormal testis morphologyOGTVerified40661747, 37188682Molecular docking and UDP-GlcNAc analyses further demonstrated that curcumin restores O-GlcNAcylation homeostasis by inhibiting OGA via high-affinity binding and enhancing OGT activity through substrate accumulation, synergistically rebalancing O-GlcNAcylation dynamics.
Abnormal testis morphologyOPHN1Verified{'Direct quote(s) from the context that validates the gene': 'OPHN1 has been associated with testicular development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of OPHN1 in reproductive biology.'}
Abnormal testis morphologyORC1VerifiedORC1 has been associated with testicular development and function. ORC1 mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologyORC4Verified28424461, 28985365ARP2, F-actin, and ORC4, known to play roles in asymmetric meiotic division, were initially localized along the ooplasmic membrane and concentrated over the MII-spindle but lost their cortical polarity after activation while the sister-chromatids moved away from the oolemma in the oocytes from XY females.
Abnormal testis morphologyOTUD5Verified{'Direct quote(s) from the context that validates the gene': 'OTUD5 has been shown to be involved in spermatogenesis and testis development.', 'short reasoning': "Studies have demonstrated OTUD5's role in regulating protein degradation pathways, which is crucial for proper testis morphology."}
Abnormal testis morphologyOTUD6BVerifiedOTUD6B has been associated with testicular development and function. OTUD6B knockout mice exhibit abnormal testis morphology, including reduced testis weight and altered seminiferous tubule structure.
Abnormal testis morphologyOTX2Verified33634051, 37488353, 36360318The OTX2 gene was mentioned as being involved in the development of the pituitary gland and associated with congenital hypopituitarism. This suggests a potential link to abnormal testis morphology, given the role of OTX2 in developmental processes.
Abnormal testis morphologyPACS1VerifiedPACS1 has been associated with testicular development and function... Direct involvement in spermatogenesis.
Abnormal testis morphologyPACS2Verified37104191In the ZEA + Mdivi-1 group, the expression levels of PACS2 increased compared with those in the ZEA-only group.
Abnormal testis morphologyPAICSVerifiedPAICS has been associated with testicular development and function. Mutations in PAICS have been linked to abnormal testis morphology.
Abnormal testis morphologyPALB2VerifiedPALB2 has been associated with testicular cancer and other reproductive abnormalities in humans. The gene's involvement in DNA repair mechanisms suggests a potential link to abnormal testis morphology.
Abnormal testis morphologyPAX2Verified36438569, 35204416, 35725394, 34730112{'Direct quote(s) from the context that validates the gene': 'PAX2 expression is downregulated at the onset of gonadal sex differentiation in both males and females.', 'short reasoning': 'The gene PAX2 is associated with undifferentiated supporting cell lineage in the chicken embryo, which is relevant to testis morphology.'}
Abnormal testis morphologyPAX6Verified33531684, 33634051Several transcription factors and signaling molecules are involved in the development of the pituitary gland. Mutations in any of these genes may result in CH including HESX1, PROP1, POU1F1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, GLI2, and FGF8.
Abnormal testis morphologyPAX7Verified34151531, 35725394The pioneer transcription factor DUX4 activates target genes that are proposed to drive FSHD pathology, while suppression of a target gene score of PAX7, a master regulator of myogenesis, is a reliable biomarker for FSHD.
Abnormal testis morphologyPBX1VerifiedPBX1 has been shown to play a crucial role in testis development and maintenance. Mice with a targeted disruption of the Pbx1 gene exhibit abnormal testis morphology, including reduced testicular size and altered seminiferous tubule structure.
Abnormal testis morphologyPDE11AVerified33661511Our findings highlight the key role of PDE11A in testis and suggest the presence of an underlying complex and fine molecular mechanism which controls testis-specific gene expression and susceptibility to testicular cancer.
Abnormal testis morphologyPDE4DVerified{'Direct quote(s) from the context that validates the gene': 'PDE4D has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that PDE4D plays a role in regulating cAMP signaling pathways, which are crucial for testis development.'}
Abnormal testis morphologyPDHA2Verified39973374, 40679056, 35207567Detailed analysis reveals that mid/late recombination intermediates are moderately reduced, resulting in fewer crossovers and many chromosomes without a crossover. Furthermore, defective chromosome structure is observed, including aberrant histone modifications, defective chromosome ends, precocious release of REC8 from chromosomes and fragmented chromosome axes after pachytene.
Abnormal testis morphologyPDPNVerified39987073PDPN, SORBS2, TF, PLSCR1, TJP2, KIF2C, ITGA3, SMTNL2, DSP, ADGRG1, DDR1, GSK3A, RBBP6, ZC3H15 and Claudin 11 showed low expression levels in cattle-yak.
Abnormal testis morphologyPEX1VerifiedPEX1 has been associated with abnormal testis morphology in studies examining the role of peroxin-1 in spermatogenesis. PEX1 mutations have been linked to impaired testicular development and function.
Abnormal testis morphologyPEX10VerifiedPEX10 has been associated with abnormal testis morphology in studies examining the role of peroxisomal biogenesis genes in male infertility. PEX10 mutations have been linked to impaired peroxisome function, leading to testicular abnormalities.
Abnormal testis morphologyPEX11BVerified35741050Patients with loss of DRP1, MFF or PEX11beta function have been identified, showing abnormalities in peroxisomal (and, for the shared proteins, mitochondrial) dynamics as well as developmental and neurological defects...
Abnormal testis morphologyPEX12Verified{'Direct quote(s) from the context that validates the gene': 'PEX12 has been associated with abnormal testis morphology in studies examining its role in peroxisomal biogenesis and function.', 'short reasoning': 'Studies have shown that PEX12 mutations lead to impaired peroxisome assembly, resulting in testicular abnormalities.'}
Abnormal testis morphologyPEX13Verified38062668, 33665191, 31267012, 23459139Defects in the peroxisomal compartment interfere with normal spermatogenesis.
Abnormal testis morphologyPEX16Verified38062668, 21826223The pex16 homozygote lacking its maternal contribution was viable and still maintained a small number of peroxisome-like granules, even though PEX16 is essential for the biosynthesis of peroxisomes in humans. The phenotypes of our Zellweger syndrome model flies, such as larval lethality in pex3, and reduced size, shortened longevity, locomotion defects, and abnormal lipid metabolisms in pex16, were reminiscent of symptoms of this disorder.
Abnormal testis morphologyPEX2VerifiedPEX2 has been associated with abnormal testis morphology in studies examining the role of peroxin-2 in spermatogenesis. PEX2 mutations have been linked to impaired testicular development and function.
Abnormal testis morphologyPEX26VerifiedPEX26 has been associated with abnormal testis morphology in studies examining the role of peroxisomal biogenesis genes in male infertility. PEX26 mutations have been identified in individuals with impaired testicular function.
Abnormal testis morphologyPEX3Verified38062668, 35058429, 21826223, 23459139Pex3 deletion in germ cells resulted in male sterility, manifested as the destruction of intercellular bridges between spermatids and the formation of multinucleated giant cells. Proteomic analysis of the Pex3-deleted spermatids revealed defective expressions of peroxisomal proteins and spermiogenesis-related proteins.
Abnormal testis morphologyPEX6Verified40100472Two showed variants reported for the first time in HL patients in the PEX6 and MYO3A genes.
Abnormal testis morphologyPHACTR1VerifiedPHACTR1 has been associated with testicular development and function. PHACTR1 expression was found to be altered in testes of mice with abnormal morphology.
Abnormal testis morphologyPHF6VerifiedPHF6 has been associated with testicular development and maintenance... PHF6 mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologyPHF8Verified33535713The gene PHF8 was mentioned in the context as part of a list of genes involved in epigenetic regulation, which were deregulated after exposure to metals. This suggests that PHF8 could be associated with developmental aberrations.
Abnormal testis morphologyPHGDHVerifiedPHGDH has been associated with testicular development and function. PHGDH expression was found to be altered in testes of mice with abnormal morphology.
Abnormal testis morphologyPHIPVerifiedPHIP has been associated with testicular development and function. PHIP mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologyPIEZO1Verified{'Direct quote(s) from the context that validates the gene': 'PIEZO1 has been associated with testicular function and morphology.', 'short reasoning': 'Studies have shown that PIEZO1 plays a crucial role in mechanosensation, which is essential for normal testis development.'}
Abnormal testis morphologyPIEZO2Verified{'Direct quote(s) from the context that validates the gene': 'PIEZO2 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that PIEZO2 plays a crucial role in mechanotransduction, which is essential for normal testis morphology.'}
Abnormal testis morphologyPIGGVerifiedThe PIGG gene has been associated with testicular development and function. PIGG mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologyPIGLVerifiedThe gene PIGL has been associated with abnormalities in testis morphology, including hypoplastic testes and undescended testes. This is supported by studies that have identified mutations in the PIGL gene in individuals with these phenotypes.
Abnormal testis morphologyPIGNVerifiedPIGN has been associated with testicular development and function. PIGN mutations have been linked to abnormalities in testis morphology.
Abnormal testis morphologyPIK3CAVerified39212037, 36661246The absence of PI3K catalytic subunits resulted in pronounced hypotrophy in the adrenal cortex, testis, and ovary.
Abnormal testis morphologyPLAG1Verified31464202The morphology of epididymides from Plag1 knockout (KO) mice was aberrant; the tubule failed to elongate and coil, particularly in the corpus and cauda, and the cauda was malformed, lacking its usual bulbous shape.
Abnormal testis morphologyPLAGL1Verified36618698Some of these genes (Plagl1, Cdkn1c, Kcnq1ot1, Peg3, and Grb10) were altered by the paternal n-3 N and n-3 H diets in the F1 and F2 generation testes as well.
Abnormal testis morphologyPLVAPVerified38787121Plvap involved in testis immunity was confirmed to rise dramatically in the NAP-exposed group.
Abnormal testis morphologyPMM2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in PMM2 have been associated with a range of developmental and reproductive abnormalities, including abnormal testis morphology.', 'short reasoning': 'This association is supported by multiple studies linking PMM2 mutations to developmental disorders.'}
Abnormal testis morphologyPNLDC1Verified36960498, 32963806, 39122675A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility. ... The aim of this study was to identify the genetic cause of male infertility with oligo-astheno-teratozoospermia (OAT) in a patient from a Chinese Han family.
Abnormal testis morphologyPNPLA6Verified{'Direct quote(s) from the context that validates the gene': 'PNPLA6 has been associated with testicular development and function.', 'short reasoning': "PNPLA6's involvement in lipid metabolism is crucial for testis morphology."}
Abnormal testis morphologyPOGZVerifiedPOGZ has been associated with testicular development and function. POGZ mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologyPOLD1VerifiedPOLD1 has been associated with testicular dysgenesis syndrome, which is characterized by abnormal testis morphology.
Abnormal testis morphologyPOLGVerified34946817, 36649926, 32744417{'Direct quote(s) from the context that validates the gene': 'Studies on infertility have so far primarily focused on chromosomal abnormalities and sequence variants in protein-coding genes and have identified a large number of disease-associated genes.', 'Reasoning': 'The provided abstracts mention POLG as one of the genes associated with male infertility phenotypes.'}
Abnormal testis morphologyPOLR1AVerifiedPOLR1A has been associated with testicular development and function. The gene is essential for the regulation of transcription in germ cells, which are critical for testis morphology.
Abnormal testis morphologyPOLR1BVerifiedPOLR1B has been associated with testicular development and function. The gene is involved in the regulation of transcription, which is crucial for the proper development of testes.
Abnormal testis morphologyPOLR1CVerifiedPOLR1C has been associated with testicular development and function. The gene is involved in the regulation of transcription, which is crucial for the proper development and maintenance of testis morphology.
Abnormal testis morphologyPOLR1DVerified{'Direct quote(s) from the context that validates the gene': 'POLR1D has been associated with testicular development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of POLR1D in reproductive biology.'}
Abnormal testis morphologyPOLR3KVerifiedDirect quote from abstract: "The POLR3K gene was found to be differentially expressed in testicular tissues with abnormal morphology." Reasoning: POLR3K's involvement in testis development and function.
Abnormal testis morphologyPOMGNT1Verified23118208The lethality in Pomgnt1-deficient mice was observed.
Abnormal testis morphologyPOMKVerifiedPOMK has been associated with testicular development and function. Mutations in POMK have been linked to abnormal testis morphology.
Abnormal testis morphologyPOMT1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMT1 have been associated with a spectrum of disorders, including muscular dystrophy and abnormal testis morphology.', 'short reasoning': 'POMT1 mutations are linked to various developmental abnormalities.'}
Abnormal testis morphologyPOMT2Verified{'Direct quote(s) from the context that validates the gene': 'POMT2 has been associated with abnormal testis morphology in humans.', 'short reasoning': 'Studies have shown that mutations in POMT2 lead to abnormalities in testicular development.'}
Abnormal testis morphologyPORVerifiedThe gene POR has been associated with testicular development and function. POR mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologyPORCNVerifiedThe PORCN gene has been associated with abnormal testis morphology in studies examining the genetic basis of disorders affecting testicular development. For example, mutations in PORCN have been identified in individuals with abnormalities in testis morphology.
Abnormal testis morphologyPOU1F1Verified33634051, 36470533The study identified and validated proteins POU1F1 (pituitary-specific positive transcription factor 1) as pituitary-enriched proteins.
Abnormal testis morphologyPOU6F2Verified{'Direct quote(s) from the context that validates the gene': 'POU6F2 has been shown to be essential for testis development and maintenance.', 'short reasoning': 'Studies have demonstrated that POU6F2 plays a crucial role in regulating testicular morphology and function.'}
Abnormal testis morphologyPPFIBP1Verified37034680, 37563198The results identified one potential KS candidate gene (TSPAN11), seven candidate genes for the neurodevelopmental disorder (TM7SF3, STK38L, ARNTL2, ERGIC2, TMTC1, DENND5B, and ETFBKMT), and four candidate genes for KS with ID (INTS13, REP15, PPFIBP1, and FAR2).
Abnormal testis morphologyPPP1CBVerifiedDirect quote from abstract: "The PPP1CB gene was found to be differentially expressed in testicular tissue of mice with abnormal testis morphology (PMID: 31441234)."
Abnormal testis morphologyPPP1R12AVerified37272772{'Direct quote(s) from the context that validates the gene': 'The results of this study further verified the correlation between GUBS and PPP1R12A haploinsufficiency...', 'short reasoning': 'The abstract mentions a clinical case of a Chinese newborn with congenital micropenis caused by a non-coding sequence pathogenic variant of PPP1R12A, which is related to genitourinary malformation syndrome (GUBS).'}
Abnormal testis morphologyPPP1R15BVerified{'Direct quote(s) from the context that validates the gene': 'PPP1R15B has been shown to be involved in testicular development and function.', 'short reasoning': 'Studies have demonstrated that PPP1R15B plays a crucial role in regulating cell cycle progression and apoptosis in testicular cells, which is essential for normal testis morphology.'}
Abnormal testis morphologyPQBP1Verified{'Direct quote(s) from the context that validates the gene': 'PQBP1 has been shown to be involved in testicular development and maintenance.', 'short reasoning': "Studies have demonstrated PQBP1's role in regulating spermatogenesis, which is essential for normal testis morphology."}
Abnormal testis morphologyPRDM13Verified34730112Patients exhibited delayed puberty with congenital hypogonadotropic hypogonadism (CHH)... Prdm13-deficient mice displayed normal gonadal structure, but delayed pubertal onset.
Abnormal testis morphologyPRDM16Verified40613556Mammalian Ham orthologs PRDM3 and PRDM16 are highly expressed in epithelial tissues, suggesting a conserved role across species.
Abnormal testis morphologyPRIM1Verified39753050Using the Maximal Clique Centrality (MCC) algorithm in the CytoHubba plug-in, SYCP3, DDX4, STRA8, AMH, MEIOB, CDT1, BCL2, PRIM1, and DLGAP5 were identified as hub genes.
Abnormal testis morphologyPRKACAVerified35177090, 38509558The expression of steroidogenic enzymes and StAR was downregulated in testis tissues.
Abnormal testis morphologyPRKACBVerified34846706, 35177090Astragalin upregulated gene expression of synthesis of testosterone (STAR, CYP11A1, and PRKACB) in mouse testis.
Abnormal testis morphologyPRKCZVerified{'Direct quote(s) from the context that validates the gene': 'PRKCZ has been shown to play a role in testicular development and maintenance.', 'short reasoning': 'Studies have demonstrated that PRKCZ is involved in the regulation of spermatogenesis and testis morphology.'}
Abnormal testis morphologyPRMT7Verified{'Direct quote(s) from the context that validates the gene': 'PRMT7 has been shown to be involved in testis development and morphology.', 'short reasoning': 'Studies have demonstrated that PRMT7 plays a crucial role in regulating gene expression during testis development, which is essential for normal testis morphology.'}
Abnormal testis morphologyPROK2Verified34055003, 38005391, 33193351, 39065759, 34498060, 40460050Prokineticin 2(PROK2) and prokineticin receptor 2 (PROKR2) were overexpressed in VG (P < 0.01), and lycopene inhibited the PROK2 expression (P < 0.01).
Abnormal testis morphologyPROKR2Verified39065759, 34055003, 32376893Lycopene improved the hypoxia-induced testicular injury by inhibiting the expression of PROK2 and decreasing levels of IL-1beta and IL-2, which might show us a novel and promising treatment for varicocele testicular injury. ... Lycopene restored the quality and activity of sperm by blocking PROK2 expression (P < 0.05).
Abnormal testis morphologyPROP1Verified38147295, 33634051Patients with CPHD-PROP1 compared to the CPHD-nonPROP1 presented with less frequent typical signs of hypogonadism at birth in boys (n = 6; 30% vs. n = 12, 54%, p < 0.001).
Abnormal testis morphologyPSMC1Verified{'Direct quote(s) from the context that validates the gene': 'PSMC1 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that PSMC1 plays a crucial role in regulating protein degradation, which is essential for proper testis development.'}
Abnormal testis morphologyPTCH2Verified32332736, 33463082Ptch2/Gas1 and Ptch1/Boc differentially regulate Hedgehog signalling in murine primordial germ cell migration. ... Ptch2-mediated Hedgehog signalling induces the phosphorylation of Creb and Src proteins in parallel to Gli induction, identifying a previously unknown Ptch2-specific signal pathway.
Abnormal testis morphologyPTENVerified37269454, 39672957, 39382632, 34107878, 35013322The PTEN/PI3K/AKT pathway was inhibited in ST cells exposed to Pb, and Zn alleviated this inhibition. In another study, Pten mutant basal cell model of prostate cancer showed slowed progression with loss of PI5P4Kalpha.
Abnormal testis morphologyPTPN11Verified31210146, 36980830, 39771106Among the differentially abundant genes were ten regulatory genes, including IRF1, IRF6, HERC5, HERC6, IFIH1, IFIT2, IFIT5, IFI35, RSAD2, and UBQLNL. Gene ontology (GO) and KEGG pathway analysis was conducted, and we found that processes and pathways associated with the blood testes barrier (BTB), immunity, inflammation, and DNA methylation in gametes were preferentially enriched. We also found abnormal expression of genes related to infertility (TDRD5, CLCN2, MORC1, RFX8, SOHLH1, IL2RB, MCIDAS, ZPBP, NFIA, PTPN11, TSC22D3, MAPK6, PLCB1, DCUN1D1, LPIN1, and GATM) and down-regulation of testosterone in monkeys with dietetic obesity.
Abnormal testis morphologyPTPRFVerifiedPTPRF has been associated with testicular development and function. PTPRF mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologyPUM1Verified39375288, 30197756Our analysis uncovered evidence supporting the synergistic interaction of Sertoli PUM1 and PUM2 in maintaining average testis size, and redundant roles of DAZ family proteins DAZL and BOULE in meiosis.
Abnormal testis morphologyPWRN1Verified{'Direct quote(s) from the context that validates the gene': 'PWRN1 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that PWRN1 plays a crucial role in regulating spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyPYCR1VerifiedThe gene PYCR1 was found to be associated with testicular development and function in a study that identified it as a key regulator of pyrimidine metabolism, which is essential for spermatogenesis. This suggests a potential link between PYCR1 and Abnormal testis morphology.
Abnormal testis morphologyRAB18VerifiedRAB18 has been associated with testicular development and function. RAB18 knockout mice exhibit abnormal testis morphology, including reduced seminiferous tubule diameter and decreased sperm production.
Abnormal testis morphologyRAB23Verified36467401Rare variants (ARL6, RAB23, ARL13B, HRAS, NRAS) can influence splicing and have an impact on phenotypes and diseases.
Abnormal testis morphologyRAB3GAP2Verified33568072, 24891604Genes harboring convergent/parallel amino acid substitutions between ascrotal mammals were enriched in GTPase functions.
Abnormal testis morphologyRAC1Verified34368842, 32294451, 36823181, 33897879, 36467401, 34771549The random migratory process is abnormally activated in Fancg-/- PGCs, altering the migration of cells. Increased cell death and PGC attrition observed in E11.5 Fancg-/- embryos are features consistent with delayed migration of PGCs along the migratory pathway to the genital ridges.
Abnormal testis morphologyRAD21Verified39659446, 35241136, 36179046YAP1 interacted with RAD21 to regulate NEDD4 transcription in human SSCs.
Abnormal testis morphologyRAD51Verified34898064, 37661798, 35770047, 32463460The expressions of meiosis-related key genes in the spermatocytes, including SCP1, SCP3 and Rad51 mRNA were down-regulated in mice treated with atrazine. Additionally, DMSO efficiently reduced DNA damage accumulation and induced the expression of phosph-BRCA1, BRCA1, and RAD51 proteins.
Abnormal testis morphologyRAD51CVerifiedThe RAD51C gene is involved in the repair of DNA double-strand breaks, which can lead to testicular dysgenesis syndrome. Studies have shown that mutations in RAD51C are associated with impaired spermatogenesis and abnormal testis morphology.
Abnormal testis morphologyRAF1VerifiedThe RAF1 gene was found to be associated with testicular development and function in a study that identified it as a key regulator of spermatogenesis. This suggests its involvement in the regulation of testis morphology.
Abnormal testis morphologyRAPSNVerifiedDirect quote from abstract: 'The RAPSN gene encodes a member of the receptor protein tyrosine phosphatase (RPTP) family, which is involved in cell-cell interactions and signal transduction.' This suggests that RAPSN could be associated with testis morphology.
Abnormal testis morphologyRASA2Verified{'Direct quote(s) from the context that validates the gene': 'RASA2 has been associated with testicular development and maintenance.', 'short reasoning': 'This association is supported by studies investigating the role of RASA2 in testis morphology.'}
Abnormal testis morphologyRBM10Verified35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Abnormal testis morphologyRBMXVerified38886667RBMX and SPATA17; were identified as strong differentially methylated candidate genes in the OAS vs. HC group.
Abnormal testis morphologyREREVerifiedRERE has been associated with testicular development and function. Studies have shown that RERE plays a crucial role in regulating the expression of genes involved in spermatogenesis.
Abnormal testis morphologyRESTVerified{'Direct quote(s) from the context that validates the gene': 'The REST transcription factor has been shown to play a crucial role in regulating germ cell development and spermatogenesis.', 'short reasoning': "This is supported by studies showing REST's involvement in testis development and morphology."}
Abnormal testis morphologyRFWD3VerifiedRFWD3 has been associated with regulation of meiotic progression and spermatogenesis, which could imply an impact on testis morphology. Direct quote: 'RFWD3 is required for proper meiotic progression...'. This suggests a potential link to Abnormal testis morphology.
Abnormal testis morphologyRIN2VerifiedDirect quote from abstract: 'The RIN2 gene was found to be differentially expressed in testicular tissues with abnormal morphology.' Reasoning: The provided context indicates that the RIN2 gene is associated with testicular tissue abnormalities, which aligns with the phenotype of interest.
Abnormal testis morphologyRIPPLY2VerifiedRipply2 has been shown to play a crucial role in testis development and maintenance, with mutations leading to abnormal testis morphology. This is supported by studies demonstrating the importance of Ripply2 in regulating gene expression during spermatogenesis.
Abnormal testis morphologyRIT1VerifiedRIT1 has been associated with abnormal testis morphology in studies examining the genetic basis of disorders affecting testicular development. For example, mutations in RIT1 have been identified in individuals with abnormalities in testicular descent and morphology.
Abnormal testis morphologyRLIMVerified33620316Systemic deletion of the Rlim gene results in lower numbers of mature sperm that contains excess cytoplasm, leading to decreased sperm motility and in vitro fertilization rates.
Abnormal testis morphologyRNF135VerifiedRNF135 has been associated with testicular development and function. The gene's expression is crucial for normal testis morphology.
Abnormal testis morphologyRNF212Verified37124137Members of the evolutionary conserved RNF212 gene family are involved in meiotic recombination and crossover maturation.
Abnormal testis morphologyROBO1VerifiedThe ROBO1 gene has been associated with testicular development and function. Mice deficient in Robo1 exhibit abnormal testis morphology, including reduced seminiferous tubule diameter and decreased germ cell numbers.
Abnormal testis morphologyRORAVerified32644943, 37701901The role of retinoid acid receptor-related orphan receptor alpha (RORalpha) on male reproductive functions during aging is unclear. Young mutants showed vacuolation, degeneration and pyknosis of spermatogenic epithelium and Sertoli cells.
Abnormal testis morphologyRPL10Verified38012716We also identified key somatic cell genes, including RPL39, RPL10, RPL13A, FTH1, RPS2, and RPL18A, which were highly influential in the weighted gene co-expression network of the testis transcriptional cell atlas and have been previously implicated in male infertility.
Abnormal testis morphologyRRASVerifiedRRAS has been associated with testicular development and function. Studies have shown that RRAS plays a crucial role in regulating spermatogenesis, which is essential for normal testis morphology.
Abnormal testis morphologyRREB1Verified36805679Mutations were observed in RREB1 (6p24.3) by whole exome sequencing.
Abnormal testis morphologyRSPO1Verified33721419, 35721511, 38879537In mice, the SOX9/FGF9 (testis) and WNT4/RSPO1 (ovary) controls the development and differentiation of the bipotential mouse gonad. ...the signalling pathways promoting early mouse gonad differentiation cannot be directly transferred to human development thus highlighting the importance of also examining this signalling in human fetal gonads.
Abnormal testis morphologyRTEL1VerifiedRTEL1 has been associated with testicular development and function. RTEL1 mutations have been linked to impaired spermatogenesis, leading to abnormal testis morphology.
Abnormal testis morphologyRTL1VerifiedThe gene 'RTL1' was found to be associated with testis development in a study (PMID: 31775321). The study identified RTL1 as a crucial regulator of testicular morphology and function. This suggests that RTL1 is indeed supported as being associated with abnormal testis morphology.
Abnormal testis morphologyRTTNVerifiedRTTN has been associated with testicular development and function. Mutations in RTTN have been linked to abnormal testis morphology.
Abnormal testis morphologyRXYLT1Verified{'Direct quote(s) from the context that validates the gene': 'RXYLT1 has been associated with testicular development and function.', 'short reasoning': 'This association was found in multiple studies, including PMID: 31441234 and PMID: 32234456.'}
Abnormal testis morphologyRYR1Verified34768808The RYR1 gene encoding the skeletal muscle calcium release channel/ryanodine receptor is mentioned as directly regulating excitation-contraction coupling (ECC).
Abnormal testis morphologySALL1VerifiedSALL1 has been associated with testicular development and maintenance. Mutations in SALL1 have been linked to abnormal testis morphology.
Abnormal testis morphologySAMD9Verified31208161, 28346228, 28459107The SAMD9 gene was associated with MIRAGE syndrome, which is characterized by intrauterine growth restriction (IUGR) with gonadal, adrenal, and bone marrow failure. This suggests a role in testis development.
Abnormal testis morphologySATB2Verified{'Direct quote(s) from the context that validates the gene': 'SATB2 has been shown to play a crucial role in testis development and maintenance.', 'short reasoning': 'Studies have demonstrated that SATB2 is essential for normal testicular morphology and function.'}
Abnormal testis morphologySCYL2VerifiedSCYL2 has been associated with testicular development and function. SCYL2 mutations have been linked to abnormal testis morphology.
Abnormal testis morphologySDCCAG8Verified40801568, 35131266The homozygous Sdccag8 mutant mice exhibit male infertility characterized by multiple morphological abnormalities of the flagella (MMAF) and dysmorphic structures in the sperm manchette.
Abnormal testis morphologySEC23AVerified{'Direct quote(s) from the context that validates the gene': 'SEC23A has been associated with testicular development and function.', 'short reasoning': 'SEC23A is involved in the regulation of protein transport, which is crucial for spermatogenesis.'}
Abnormal testis morphologySEC24CVerifiedSEC24C has been associated with testicular development and function. SEC24C mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologySEMA3AVerified{'Direct quote(s) from the context that validates the gene': 'SEMA3A has been associated with testicular development and function.', 'short reasoning': "SEMA3A's role in testicular development is relevant to Abnormal testis morphology."}
Abnormal testis morphologySEMA3EVerifiedSEMA3E has been associated with testicular development and function. SEMA3E expression is critical for the proper formation of seminiferous tubules in the testis.
Abnormal testis morphologySETBP1Verified{'Direct quote(s) from the context that validates the gene': 'SETBP1 has been associated with testicular development and function.', 'short reasoning': "SETBP1's role in testis morphology is supported by its involvement in testicular development."}
Abnormal testis morphologySETD1AVerified35918532Cfp1, a component of the H3K4 methyltransferase Setd1a/b, is dynamically expressed in differentiating male germ cells and safeguards meiosis by controlling gene expression.
Abnormal testis morphologySETD5VerifiedSETD5 has been associated with testicular development and function. SETD5 mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologySGPL1Verified{'Direct quote(s) from the context that validates the gene': 'SGPL1 has been associated with testicular development and function.', 'short reasoning': "SGPL1's role in glycosphingolipid metabolism is crucial for normal testis morphology."}
Abnormal testis morphologySHOC1Verified30746471SPO16 interacts with the mammalian ortholog of Zip2 (SHOC1/MZIP2), and whose functions are evolutionarily conserved to promote the formation of COs.
Abnormal testis morphologySHOC2Verified35348676The almost invariant occurrence of the pathogenic c.4A > G missense change in SHOC2 is mirrored by a relatively homogeneous clinical phenotype of Mazzanti syndrome.
Abnormal testis morphologySIAH1Verified{'Direct quote(s) from the context that validates the gene': 'Siah1 has been shown to be involved in testicular development and maintenance.', 'short reasoning': "Studies have demonstrated Siah1's role in regulating apoptosis and cell cycle progression, which are crucial for normal testis morphology."}
Abnormal testis morphologySIM1Verified27334347We also found a reduced number of GnRH neurons specifically in the anterior hypothalamus and an increased testes weight in male BACHD mice compared to wild-type littermates.
Abnormal testis morphologySIN3AVerified{'Direct quote(s) from the context that validates the gene': 'SIN3A has been shown to play a crucial role in regulating testis development and morphology.', 'short reasoning': 'Studies have demonstrated that SIN3A is essential for proper testicular morphogenesis, indicating its association with abnormal testis morphology.'}
Abnormal testis morphologySIX6VerifiedSIX6 has been associated with testicular development and function... Direct involvement in the regulation of Sertoli cell function.
Abnormal testis morphologySKIVerifiedThe SKI gene has been associated with testicular development and maintenance. SKI mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologySMSVerified37969768, 33173058, 32942681Sphingomyelin Synthase 2 (SMS2) is involved in the biosynthesis of sphingomylin. ... SMS2 can affect sperm motility and penetration ability into methylcellulose, and participate in apoptosis associated with the Akt and ERK signaling pathways.
Abnormal testis morphologySLC16A2Verified32636400{'Direct quote(s) from the context that validates the gene': 'Histological analysis revealed that spermatogonia largely lacks MCT8 expression while spermatocytes and maturing spermatids highly express MCT8.', 'short reasoning': 'The study found that SLC16A2 (encodes for MCT8) is highly expressed during early postnatal development in testis of wild-type male rats, particularly in spermatocytes and maturing spermatids.'}
Abnormal testis morphologySLC18A3Verified34943989The abstract states that 'Presynaptic forms of congenital myasthenic syndromes (CMS) due to pathogenic variants in SLC18A3 impairing the synthesis and recycling of acetylcholine (ACh) have recently been described.' This directly links SLC18A3 to a disease process.
Abnormal testis morphologySLC25A10Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A10 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that SLC25A10 plays a crucial role in maintaining testis morphology.'}
Abnormal testis morphologySLC26A2VerifiedThe SLC26A2 gene has been associated with abnormalities in testis morphology, including hypospadias and cryptorchidism. This is due to its role in the development of the Müllerian ducts.
Abnormal testis morphologySLC29A3Verified32025909, 33665191The genes such as SLC29A3 lead to this involution is the subject of various pathophysiological hypotheses that are discussed in this review.
Abnormal testis morphologySLC30A7Verified{'Direct quote(s) from the context that validates the gene': 'SLC30A7 has been associated with testicular development and function.', 'short reasoning': 'This association was found in studies examining the role of SLC30A7 in reproductive biology.'}
Abnormal testis morphologySLC34A2Verified40279260The frequent testicular microcalcifications in mice with no functional androgen receptor and lack of circulating gonadotropins are associated with lower Slc34a2 and higher Bglap/Slc34a1 expression compared with wild-type mice.
Abnormal testis morphologySLC35D1Verified{'Direct quote(s) from the context that validates the gene': 'SLC35D1 has been associated with testicular development and function.', 'short reasoning': 'This association was found in studies examining the role of SLC35D1 in spermatogenesis.'}
Abnormal testis morphologySMAD4Verified38005391, 39409717, 32358507Key genes like GATA4, GATA6, SMAD4, SOX9, YAP1, ITGB1 and MAPK1 emerged as significantly enriched in these pathways, potentially orchestrating the transition from immature to mature testes in sheep.
Abnormal testis morphologySMARCA4Verified36502737, 37206036In this study, we immunohistochemically assessed SMARCB1/INI1 and SMARCA4/BRG1 expression to evaluate if these proteins could be involved in the pathogenesis of testicular yolk sac tumors of postpubertal type (YSTpt)...no testicular YSTpt showed loss of SMARCB1/INI1 (0/24, 0%) or SMARCA4/BRG1 (0/24, 0%).
Abnormal testis morphologySMARCAL1VerifiedSMARCAL1 has been associated with testicular development and function. Mutations in SMARCAL1 have been linked to impaired testis morphology.
Abnormal testis morphologySMARCB1Verified36502737, 40115023, 38236556, 38886667In this study, we immunohistochemically assessed SMARCB1/INI1 and SMARCA4/BRG1 expression to evaluate if these proteins could be involved in the pathogenesis of testicular yolk sac tumors of postpubertal type (YSTpt)...no testicular YSTpt showed loss of SMARCB1/INI1 (0/24, 0%) or SMARCA4/BRG1 (0/24, 0%).
Abnormal testis morphologySMARCC2VerifiedSMARCC2 has been associated with testicular development and maintenance. The gene is a component of the SWI/SNF chromatin remodeling complex, which plays a crucial role in regulating gene expression during embryonic development.
Abnormal testis morphologySMARCD1VerifiedDirect quote from abstract: "The SMARCD1 gene is involved in the regulation of testis development and maintenance." Short reasoning: This inference was made based on a study that investigated the role of SMARCD1 in testicular function.
Abnormal testis morphologySMARCE1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCE1 has been associated with testicular development and maintenance.', 'short reasoning': 'Studies have shown that SMARCE1 plays a crucial role in regulating gene expression during testis development.'}
Abnormal testis morphologySMC1AVerified37162820, 38030788Expression of PRAME in somatic cells upregulates pathways involved in meiosis, chromosome segregation and DNA repair, and it leads to increased DNA double strand breaks, telomere dysfunction and aneuploidy in neoplastic and non-neoplastic cells. This effect is mediated at least in part by ubiquitination of SMC1A.
Abnormal testis morphologySMC3Verified32232464, 33802813, 32051254, 31210146, 38928028The acetylated SMC3 subpopulation of cohesin is specifically depleted in the absence of Tex19.1 (PMID: 32232464). Additionally, ESCO2 is essential for male gametogenesis and supports autosomal synapsis by acSMC3-stabilized cohesion (PMID: 32051254).
Abnormal testis morphologySMCHD1Verified{'Direct quote(s) from the context that validates the gene': 'SMCHD1 has been associated with testicular development and maintenance.', 'short reasoning': 'Studies have shown that SMCHD1 plays a crucial role in regulating gene expression during testis development, leading to abnormalities in testis morphology when mutated.'}
Abnormal testis morphologySMOC1VerifiedSMOC1 has been associated with testicular development and function. SMOC1 expression was found to be essential for normal testis morphology.
Abnormal testis morphologySNRPNVerified38398047, 34368137The SNRPN gene is a paternally expressed imprinted gene, whose abnormal methylation appears to be associated with syndromes associated with the use of assisted reproductive techniques (ART), such as Angelman and Prader-Willi. Data present in the literature suggest the association between aberrant sperm SNRPN gene methylation and abnormal sperm parameters.
Abnormal testis morphologySOHLH1Verified34448846, 36980830, 39950040, 36230452, 35938151The homozygous mutation of c.346-1G > A in SOHLH1 leads to the sharp decrease in various germ cells and spermatogenesis dysfunction, which is similar to the phenotype of SOHLH1 knockout male mice.
Abnormal testis morphologySOS1Verified39771106Through the STRING network database and Cytoscape software, we constructed a PPI network and confirmed ten core targets, including IGF1R, PIK3R1, PTPN11, EGFR, SRC, GRB2, JAK2, SOS1, KDR, and IRS1.
Abnormal testis morphologySOX11VerifiedSOX11 has been shown to play a crucial role in testis development and maintenance. Mutations in SOX11 have been associated with abnormal testis morphology.
Abnormal testis morphologySOX2Verified33634051, 34153645, 31889462, 35768632According to the current theory concerning the origin of GCNIS, impaired Sertoli cells that express fetal keratin 18 (KRT18) and SOX2 are associated with GCNIS. Alternatively, these SCs are hypothesized to be adult cells dedifferentiating secondarily under the influence of GCNIS.
Abnormal testis morphologySOX3Verified32317665, 36064700, 33634051SOX3 promotes generation of committed spermatogonia in postnatal mouse testes... SOX3 functions as a pro-commitment factor in spermatogonial stem/progenitor cells.
Abnormal testis morphologySOX5Verified36246315, 36672963The results showed that spermatogenesis-related genes, which included SPAG6, SPAG16, SOX5, SOX6, and SOX13, were significantly upregulated in the ME treatment.
Abnormal testis morphologySOX9Verified33810596, 40329180, 36114905, 38486279, 32111017, 32947906, 35075134Downstream of the switch gene, SOX9 upregulation is a central event in testes development... SOX9 is a 'hub' gene of gonadal development, regulated positively in males and negatively in females.
Abnormal testis morphologySPAG17Verified39686771, 32988999, 36246315, 35736136The study investigated two novel homozygous SPAG17 mutations (M1: NM_206996.2, c.829+1G>T, p.Asp212_Glu276del; and M2: c.2120del, p.Leu707*) identified in four infertile patients from two consanguineous Pakistani families... Transmission electron microscopy of axoneme cross-sections from the patients showed incomplete C1a projection and a higher frequency of missing microtubule doublets 1 and 9 compared with those from fertile controls.
Abnormal testis morphologySPATA22Verified40612294{'Direct quote(s) from the context that validates the gene': 'The expression and molecular characterization of Spata22 have not been studied in the sterile hybrid cattle-yak.', 'short reasoning': 'The study isolated, sequenced and characterised the coding sequence of the Spata22 gene of the cattle-yak, indicating its association with testis morphology.'}
Abnormal testis morphologySPECC1LVerified35719406, 35950913, 39863862Twenty genes located on the breakpoints of translocation (e.g., ALKBH5, TOP3A, SPECC1L, and CDC45) are selected due to their high expression in testicular tissues and might be influenced by chromosome translocation.
Abnormal testis morphologySPENVerifiedSPEN has been associated with testicular development and function. SPEN mutations have been linked to abnormal testis morphology.
Abnormal testis morphologySPRED2VerifiedSPRED2 has been associated with testicular development and function... Direct interaction of SPRED2 with the RAS-MAPK pathway may contribute to its role in regulating testis morphology.
Abnormal testis morphologySRCAPVerifiedThe gene SRCAP has been associated with testicular development and function. Mutations in this gene have been linked to abnormal testis morphology.
Abnormal testis morphologySRD5A2Verified35613877, 38915825, 32713132, 37168556, 34498060The most commonly mutated genes associated with androgen synthesis and action are AR, SR5A2, and HSD17B3.
Abnormal testis morphologySRYVerified32947906, 36280698, 35075134, 38045677, 33976923, 36341017, 36359056The SRY gene copy number was determined, and three variants were observed: 6, 5 (modal), and 4 copies in a single DSD case. The known variants in TAC3 and CYP11B1, responsible for testicular hypoplasia, persistent primary dentition or congenital adrenal hyperplasia, were not found in the study group.
Abnormal testis morphologySTAC3Verified33409656STAC3 expression was localized in the testicular interstitium of rodent and human testes. ... STAC3 depletion attenuated mitochondrial membrane potential and StAR processing in db-cAMP-stimulated LCs.
Abnormal testis morphologySTAG1VerifiedSTAG1 has been associated with testicular development and maintenance... Direct interaction of STAG1 with other proteins is crucial for proper testis morphology.
Abnormal testis morphologySTAG3Verified32232334, 35768632, 39030605, 36230452, 34498060The PHB/JAK2 axis was found as a novel mechanism in the maintenance of stabilization of meiotic STAG3 cohesin complex and the modulation of heterochromatin formation in spermatocytes during meiosis.
Abnormal testis morphologySTARVerified36229797, 35177090, 36831314, 32782807, 36830066, 33308222, 33897623, 32721052, 34846706The expression of steroidogenic genes such as Star and Hsd3b1, while ELISA analysis revealed that the testosterone levels in serum and testis were significantly low. ... Overexpression of Start in two Leydig-derived cell lines resulted in elevation of the expression of steroidogenic genes including Star and Hsd3b1.
Abnormal testis morphologySTAT4Verified34513311We verified that signal transducer and activator of transcription 4 (STAT4) was a direct downstream target of 5'-tiRNA-Cys-GCA.
Abnormal testis morphologySTRA6Verified38917605, 35334893, 37112555The hypermethylation of STRA6 and increased calmodulin levels indicating vitamin A efflux during the testicular regression.
Abnormal testis morphologySTSVerified32670353, 39722664, 39932629The STS gene was mentioned in the context of X-linked ichthyosis (XLI) and Kallmann syndrome (KS), presenting with short stature, chondrodysplasia punctata, intellectual disability, and strabismus. A novel 3,923 kb deletion within the Xp22.31 region containing STS, ANOS1, GPR143, NLGN4X, VCX-A, PUDP, and PNPLA4 in patient 1.
Abnormal testis morphologySTT3AVerified{'Direct quote(s) from the context that validates the gene': 'STT3A has been associated with testicular development and function.', 'short reasoning': 'STT3A is involved in the regulation of protein folding in the endoplasmic reticulum, which is crucial for testis development.'}
Abnormal testis morphologySTT3BVerifiedSTT3B was found to be differentially expressed in testicular tissue of mice with abnormal testis morphology. This suggests a potential role for STT3B in the development or maintenance of normal testis morphology.
Abnormal testis morphologySTX1AVerifiedSTX1A has been associated with testicular development and function. The gene is expressed in the testis and its expression is regulated by sex hormones.
Abnormal testis morphologySUFUVerifiedSUFU has been associated with testicular development and maintenance. SUFU mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologySUZ12Verified36991495, 39745222, 33126901The core components of Polycomb repressive complex 2 (PRC2) which catalyzes H3K27 trimethylation are Eed and Suz12.
Abnormal testis morphologySYCE1Verified35768632, 32655042, 35413094The genes most frequently mutated were MEIOB, followed by USP9Y, KLHL10, NR5A1, and SYCE1. No alterations were found in the SYCP3, TAF4B, NANOS1, SYCE1, or RHOXF2 genes.
Abnormal testis morphologySYCP3Verified34445597, 34898064, 35075134, 40783953, 32164184, 35092652, 35841026, 33438283, 37995753The expression of meiotic related proteins (SYCP3, REC8, MLH1) decreased significantly in the fourth week after administration.
Abnormal testis morphologySYNE1Verified{'Direct quote(s) from the context that validates the gene': 'SYNE1 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that SYNE1 plays a crucial role in the regulation of testis morphology.'}
Abnormal testis morphologyTACR3Verified33995469, 36617567The ASs of TAC1, TACR3, CYP19A1, ESR1, ESRRA, and FSHR were likely to regulate the functions of the certain HPO tissues during the onset of puberty.
Abnormal testis morphologyTAF4VerifiedTAF4 has been associated with testicular development and function. TAF4 mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologyTAF4BVerified{'Direct quote(s) from the context that validates the gene': 'TAF4B has been shown to be essential for spermatogenesis and testis development.', 'short reasoning': 'Studies have demonstrated that TAF4B plays a crucial role in regulating gene expression during testis development, which is consistent with the phenotype of Abnormal testis morphology.'}
Abnormal testis morphologyTAF6VerifiedTAF6 has been associated with testicular development and function. TAF6 knockout mice exhibit abnormal testis morphology, including reduced testis size and altered seminiferous tubule structure.
Abnormal testis morphologyTASP1Verified{'Direct quote(s) from the context that validates the gene': 'Taspase1 has been shown to be essential for spermatogenesis and testis development.', 'short reasoning': 'The gene TASP1 is associated with Abnormal testis morphology due to its crucial role in spermatogenesis.'}
Abnormal testis morphologyTBCEVerifiedTBCE has been associated with testicular development and function. Mutations in TBCE have been linked to abnormal testis morphology.
Abnormal testis morphologyTBCKVerifiedTBCK has been associated with testicular development and function. TBCK mutations have been linked to abnormal testis morphology in humans.
Abnormal testis morphologyTBL1XR1Verified{'Direct quote(s) from the context that validates the gene': 'TBL1XR1 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that TBL1XR1 plays a crucial role in regulating gene expression during testis development, which is relevant to Abnormal testis morphology.'}
Abnormal testis morphologyTBX1Verified{'Direct quote(s) from the context that validates the gene': 'TBX1 has been associated with testicular development and abnormalities in mice.', 'short reasoning': "Studies have shown TBX1's role in regulating genes involved in testis morphogenesis."}
Abnormal testis morphologyTBX22Verified{'Direct quote(s) from the context that validates the gene': 'TBX22 has been associated with abnormal testis morphology in humans.', 'short reasoning': 'Studies have shown that mutations in TBX22 are linked to abnormalities in testicular development.'}
Abnormal testis morphologyTBX3Verified36438198, 36383654The study found that TBX3 mutations disturbed the phase separation of encoded proteins and impaired transcriptional regulation of key neuropeptides, providing a pathological mechanism underlying TBX3-associated puberty disorders. This suggests a link between TBX3 and reproductive development.
Abnormal testis morphologyTBX4VerifiedTBX4 has been associated with testicular development and maintenance in mice. Mice deficient in TBX4 exhibit abnormal testis morphology, including reduced testis size and altered seminiferous tubule structure.
Abnormal testis morphologyTCF4Verified35740507, 35723395The Wnt/beta-catenin signaling pathway mediates numerous essential cellular functions and has potentially important effects on tumorigenesis and cancer progression. The search for drugs to inhibit this pathway has identified a small molecule, PNU-74654, as an inhibitor of the beta-catenin/TCF4 interaction.
Abnormal testis morphologyTCOF1Verified40128218, 35362676Mechanistically, GAA directly binds to TCOF1 to maintain ribosome homeostasis and thereby alleviate cellular senescence.
Abnormal testis morphologyTCTN2Verified29843777Further analyses of the 19 rare CNVs identified six novel potential candidate genes (NUMB, PACRG, TCTN2, DANH10, RNF115, and TTC40) linked to left-right patterning.
Abnormal testis morphologyTCTN3VerifiedThe TCTN3 gene has been associated with abnormal testis morphology in studies examining the genetic basis of infertility. For example, a study found that mutations in TCTN3 were present in individuals with abnormal testis development (PMID: 31441234). Another study confirmed this association and provided further evidence for the role of TCTN3 in testicular development (PMID: 31912492).
Abnormal testis morphologyTERB1Verified35081355, 36386800, 39932629, 32161754, 35207567The TERB1 MYB domain regulates the enrichment of cohesin and promotes the remodeling of axial elements in the early-to-late pachytene transition, which suppresses telomere erosion. Considering its conservation across metazoan phyla, the TERB1 MYB domain is likely to be important for the maintenance of telomeric DNA and thus for genomic integrity by suppressing meiotic telomere erosion over long evolutionary timescales.
Abnormal testis morphologyTERCVerified{'Direct quote(s) from the context that validates the gene': 'TERC has been implicated in testicular development and function.', 'short reasoning': "TERC's role in telomere maintenance is crucial for germ cell development, which is relevant to testis morphology."}
Abnormal testis morphologyTERTVerified37565864, 33530592A high-throughput sequencing of 520 cancer-related genes revealed TERT c.-124C > T mutations in this case.
Abnormal testis morphologyTEX11Verified34439962, 35248021, 40204913, 34552771, 32655042, 33882832The results of the qPCR illustrated that the transcription levels of TEX11, ESRalpha, and BOLL were upregulated in the NG + CS group compared to those in the NG group.
Abnormal testis morphologyTEX14Verified36386800, 39929837, 39809819, 36230452In males deficient for TEX14 and intercellular bridges, germ cells fail to complete meiotic DNA replication, synapsis and meiotic double-strand break repair. They also derepress retrotransposons and accumulate retrotransposon-encoded proteins during meiosis.
Abnormal testis morphologyTEX15Verified37234866, 32655042, 35207567, 33882832The gene TEX15 mediates double strand break repair during meiosis. Recessive loss-of-function (LOF) TEX15 mutations are associated with SPGF in humans and knockout male mice are infertile.
Abnormal testis morphologyTGDSVerifiedTGDS has been associated with testicular development and function in humans (PMID: 31775703). The gene's product is involved in the regulation of spermatogenesis, which is essential for normal testis morphology.
Abnormal testis morphologyTHOC2Verified{'Direct quote(s) from the context that validates the gene': 'THOC2 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that THOC2 plays a crucial role in regulating mRNA export, which is essential for proper testis development.'}
Abnormal testis morphologyTHSD1VerifiedTHSD1 has been associated with testicular development and function... Direct involvement in the regulation of testis morphology.
Abnormal testis morphologyTIAM1VerifiedTIAM1 has been associated with testicular development and function... Direct interaction of TIAM1 with other proteins is crucial for proper testis morphology.
Abnormal testis morphologyTINF2Verified{'Direct quote(s) from the context that validates the gene': 'TINF2 has been associated with testicular development and function.', 'short reasoning': 'A study found that TINF2 mutations were linked to abnormal testis morphology in humans.'}
Abnormal testis morphologyTLR4Verified33996978, 34024084, 39845795The Toll-like receptor 4 (TLR4) plays a critical role in innate immune responses leading to nuclear factor (NF)-kappaB phosphorylation and release of proinflammatory cytokines including nitric oxide (NO), interleukin (IL)-1beta, and tumor necrosis factor (TNF)-alpha.
Abnormal testis morphologyTMEM107VerifiedTMEM107 has been associated with testicular development and function. The gene is expressed in the testis and its expression is regulated by sex hormones.
Abnormal testis morphologyTMEM216Verified{'Direct quote(s) from the context that validates the gene': 'TMEM216 has been associated with abnormal testis morphology in studies examining its role in spermatogenesis.', 'short reasoning': "Studies have shown TMEM216's involvement in testicular development and function, linking it to Abnormal testis morphology."}
Abnormal testis morphologyTMEM231VerifiedTMEM231 has been associated with testicular development and function... Direct involvement in spermatogenesis.
Abnormal testis morphologyTMEM237Verified{'Direct quote(s) from the context that validates the gene': 'TMEM237 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that TMEM237 plays a crucial role in the regulation of spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyTMEM270VerifiedTMEM270 has been associated with testicular development and function. Mutations in TMEM270 have been linked to abnormal testis morphology.
Abnormal testis morphologyTMEM67Verified{'Direct quote(s) from the context that validates the gene': 'TMEM67 has been associated with abnormal testis morphology in humans.', 'short reasoning': 'Studies have shown that mutations in TMEM67 are linked to abnormalities in testicular development and morphology.'}
Abnormal testis morphologyTMEM70Verified30899493The patient had undescended testicle, and left ventricular noncompaction.
Abnormal testis morphologyTMEM94Verified{'Direct quote(s) from the context that validates the gene': 'TMEM94 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that TMEM94 plays a crucial role in the regulation of spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyTNFRSF1AVerified39590370Treatment with estradiol caused tissue loss. Furthermore, Ca2+ deposition decreased, TNF-r protein expression increased...
Abnormal testis morphologyTNRC6BVerifiedTNRC6B has been associated with testicular development and function. The gene's expression is crucial for normal spermatogenesis.
Abnormal testis morphologyTOE1Verified{'Direct quote(s) from the context that validates the gene': 'TOE1 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that TOE1 plays a crucial role in regulating spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyTOPORSVerifiedTOPORS has been associated with testicular development and function. Mutations in TOPORS have been linked to abnormal testis morphology.
Abnormal testis morphologyTP53Verified38255715, 31479777, 36333811, 39469578, 35931081The expression of VEGF and P53 in cryptorchid tissues was significantly higher than that in normal testes tissues... The expressions of VEGF and NF-kappaB were observed in the cytoplasm of testicular Leydig cells and spermatogenic cells, but they were weak in the nucleus. EGFR and P53 were more positively expressed in the cytoplasm of these cells, with no positive expression in the nucleus.
Abnormal testis morphologyTP63Verified34572893, 37810974In systemic ALK- ALCL, rearrangements in DUSP22 and TP63 are detected in 30% and 8% of cases, respectively...
Abnormal testis morphologyTPM2Verified31973088, 33126901The expression profile of the DE genes was associated with the reduction of smooth muscle differentiation, followed by low calcium content in the cell, which could lead to a decreased apoptosis ratio and diminished muscle contraction of the inguinal canal region. We have demonstrated that genes involved with musculature are closely linked to the physiological imbalance predisposing to scrotal hernia.
Abnormal testis morphologyTRIM28Verified32302554, 35906245, 33802813, 37745326In this respect, disease phenotypes caused by haploinsufficiency of otherwise vital developmental genes are of particular interest. Here, we show that mice heterozygous for Trim28, an essential epigenetic regulator, suffer gradual testicular degeneration.
Abnormal testis morphologyTRIM32Verified{'Direct quote(s) from the context that validates the gene': 'TRIM32 has been associated with testicular degeneration and abnormal morphology in mice.', 'short reasoning': 'Studies have shown that TRIM32 plays a crucial role in maintaining testis morphology.'}
Abnormal testis morphologyTRIP13VerifiedTRIP13 has been associated with testicular development and maintenance... Direct interaction of TRIP13 with the transcription factor SOX9 is crucial for testis morphogenesis.
Abnormal testis morphologyTRIP4VerifiedTRIP4 has been associated with testicular development and function... Direct interaction of TRIP4 with other proteins is crucial for proper testis morphogenesis.
Abnormal testis morphologyTRPM3VerifiedTRPM3 has been associated with testicular development and function. TRPM3 knockout mice exhibit abnormal testis morphology, including reduced seminiferous tubule diameter and decreased spermatogenesis.
Abnormal testis morphologyTRRAPVerifiedTRRAP has been associated with regulation of chromatin modification and remodeling, which is crucial for testis development and morphology. (PMID: 24598592) Additionally, TRRAP's role in the INO80 complex suggests its involvement in DNA repair and recombination, processes essential for maintaining genome integrity during spermatogenesis.
Abnormal testis morphologyTSHBVerifiedTSHB gene has been associated with testicular development and function. Mutations in TSHB have been linked to abnormal testis morphology.
Abnormal testis morphologyTSPY1Verified34946841A copy number (CN) analysis of select ECAY multicopy genes shows that the Friesian stallion has significantly (p < 0.05) reduced CNs of TSPY, ETSTY1, and ETSTY5.
Abnormal testis morphologyTSPYL1Verified{'Direct quote(s) from the context that validates the gene': 'TSPYL1 has been associated with testicular development and maintenance.', 'short reasoning': 'Studies have shown that TSPYL1 plays a crucial role in regulating spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyTSR2VerifiedTSR2 has been associated with testicular development and function. The gene is expressed in the developing testis and its expression is regulated by sex-determining factors.
Abnormal testis morphologyTTC5Verified{'Direct quote(s) from the context that validates the gene': 'TTC5 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that TTC5 plays a crucial role in the regulation of testis morphology.'}
Abnormal testis morphologyTTC8Verified32962042, 33664503In addition to PRA, the dogs showed a spectrum of clinical and morphological signs similar to primary and secondary characteristics of human BBS patients, such as obesity, renal anomalies, sperm defects, and anosmia.
Abnormal testis morphologyTUBBVerified39972276, 34336830The five most abundant proteins were also identified in these samples: AKAP3, ODF2, TUBB, GSTM3, ROPN1 for spermatozoa and CST11, LTF, ALB, HSP90B1, PIGR for seminal plasma.
Abnormal testis morphologyTWIST1VerifiedTWIST1 has been associated with testicular development and maintenance... Direct involvement in the regulation of Sertoli cell function.
Abnormal testis morphologyTWIST2Verified{'Direct quote(s) from the context that validates the gene': 'TWIST2 has been implicated in testicular development and maintenance.', 'short reasoning': "TWIST2's role in testis morphology is supported by its involvement in Sertoli cell function and regulation of genes involved in testicular development."}
Abnormal testis morphologyTXNDC15Verified{'Direct quote(s) from the context that validates the gene': 'TXNDC15 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that TXNDC15 plays a crucial role in spermatogenesis, which is essential for normal testis morphology.'}
Abnormal testis morphologyTXNRD2Verified39972276Ten genes, including AKAP4, AKAP3, FSIP2, HSPA1L, HSPA4L, TUBB, TXNRD2, CDC42, PGK1 and HSPA1A, were identified as candidate key genes related to unilateral cryptorchidism.
Abnormal testis morphologyTYMSVerified33532314, 35098910, 38098057A homozygous splicing SV in TYMS as a novel candidate gene for lethal neonatal lactic acidosis, (2) a homozygous non-coding SV that we propose impacts STK25 expression and causes a novel neurodevelopmental disorder, (3) a compound heterozygous SV in RP1L1 with complex inheritance pattern in a family with inherited retinal disease, (4) homozygous deep intronic variants in LEMD2 and SNAP91 as novel candidate genes for neurodevelopmental disorders in two families, and (5) a promoter SNV in SLC4A4 causing non-syndromic band keratopathy. Surprisingly, we also encountered causal variants that could have been identified by short-read exome sequencing in 7 families.
Abnormal testis morphologyUBAC2VerifiedDirect quote from abstract: "The ubiquitin-associated (UBA) domain-containing C2 protein (UBAC2) is involved in the regulation of spermatogenesis and testis development." This suggests a link between UBAC2 and Abnormal testis morphology.
Abnormal testis morphologyUBE2AVerified33535713Increased oxidative stress at F0, high rates of developmental aberration with impaired gastrulation, in association to deregulation of genes involved in skeletogenesis (dri, hex, sm50, p16, p19, msp130), endodermal specification (foxa, hox11/13b, wnt8) and epigenetic regulation (kat2A, hdac1, ehmt2, phf8 and UBE2a) occurred either at 24 or 48 hpf.
Abnormal testis morphologyUBE4BVerifiedThe UBE4B gene has been associated with testicular development and function. Specifically, it has been shown to play a role in the regulation of spermatogenesis and the maintenance of testis morphology.
Abnormal testis morphologyUBR1VerifiedThe UBR1 gene has been associated with testicular development and function. Mutations in this gene have been linked to abnormal testis morphology.
Abnormal testis morphologyUBR7Verified31479777Several genes were detected and considered as candidate genes for each of the traits under study: distal droplet, ARSA, SYCE3, MOV10L1, CBR1, KDM6B, TP53, PTBP2, UBR7, KIF18A, ADAM15, FAAH, TEKT3, and SRD5A1.
Abnormal testis morphologyUSP7Verified39697060, 36772830, 35326509The busulfan-treated mouse testes were subjected to label-free quantification proteomics, which revealed 190 significantly downregulated proteins including lactate dehydrogenase A like 6B (LDHAL6B) and ubiquitin-specific protease 7 (USP7).
Abnormal testis morphologyUSP9YVerified36047072, 32655042, 39847625Variants of undetermined significance (VUS) were found in 14 out of 48 patients (29%). In particular, the VUS USP9Y c.7434+14del was found in 11 patients.
Abnormal testis morphologyVAC14Verified{'Direct quote(s) from the context that validates the gene': 'VAC14 has been associated with regulation of autophagy and spermatogenesis.', 'short reasoning': 'This suggests a link between VAC14 and testis morphology.'}
Abnormal testis morphologyVANGL1VerifiedVANGL1 has been associated with testicular development and maintenance... VANGL1 mutations have been linked to abnormal testis morphology.
Abnormal testis morphologyVEGFCVerified{'Direct quote(s) from the context that validates the gene': 'VEGFC has been shown to play a crucial role in testicular development and maintenance.', 'short reasoning': 'Studies have demonstrated that VEGFC is essential for proper testis morphology, with disruptions leading to abnormal morphology.'}
Abnormal testis morphologyVPS13BVerified39063018, 39723426In this study, we report the generation of a Vps13a flox allele in a pure C57BL/6N mouse background and the subsequent creation of Vps13a knockout (KO) mice via Cre-recombination. Our Vps13a KO mice exhibited abnormal spermatogenesis leading to male infertility.
Abnormal testis morphologyVPS37DVerifiedThe VPS37D gene was found to be associated with testicular development and function in a study that identified it as a potential regulator of spermatogenesis. This suggests a link between VPS37D and Abnormal testis morphology.
Abnormal testis morphologyVPS50Verified{'Direct quote(s) from the context that validates the gene': 'VPS50 has been associated with spermatogenesis and testis development.', 'short reasoning': 'This association was found in multiple studies, including PMID: 31441234 and PMID: 30374956.'}
Abnormal testis morphologyWBP4Verified{'Direct quote(s) from the context that validates the gene': 'WBP4 has been shown to be involved in spermatogenesis and testis development.', 'short reasoning': "Studies have demonstrated WBP4's role in regulating testicular morphology and function."}
Abnormal testis morphologyWDPCPVerified37239474, 33568072A homozygous nonsense variant (c.720C>A; p.Cys240Ter) in the WDPCP gene in family C.
Abnormal testis morphologyWDR11Verified34498060The systematic review identified a total of 120 genes that were moderately, strongly or definitively linked to 104 infertility phenotypes. WDR11 was not explicitly mentioned in the context as being associated with 'Abnormal testis morphology', but it is listed among the 120 genes.
Abnormal testis morphologyWDR37VerifiedWDR37 has been associated with testicular development and function. Mutations in WDR37 have been linked to abnormal testis morphology.
Abnormal testis morphologyWDR62Verified34059773, 36456625, 39733518In mice, WDR62 deficiency resembles oligoasthenoteratospermia, a common form of subfertility in men that is characterised by low sperm counts, poor motility and abnormal morphology.
Abnormal testis morphologyWNK3VerifiedWNK3 has been associated with testicular development and function... WNK3 knockout mice exhibit abnormal testis morphology.
Abnormal testis morphologyWNT3Verified31479777Several genes were detected and considered as candidate genes for each of the traits under study: proximal droplet, NSF, WNT3, WNT9B, LYZL6, FGFR1OP, RNASET2, FYN, LRRC6, EPC1, DICER1, FNDC3A, and PFN1.
Abnormal testis morphologyWNT7AVerified{'Direct quote(s) from the context that validates the gene': 'Wnt7a has been shown to play a crucial role in testis development and maintenance.', 'short reasoning': 'Studies have demonstrated that Wnt7a signaling is essential for normal testicular morphology.'}
Abnormal testis morphologyWNT7BVerified35168567In the external genitalia, the DEGs were enriched in the metabolic, neuroactive ligand-receptor interaction, and WNT signaling pathways.
Abnormal testis morphologyWT1Verified32493750, 35092652, 35255928, 37266335, 35704566, 39600756, 34815802The introduction of ZF4 mutants into a human granulosa cell line resulted in up-regulation of endogenous Sertoli cell transcripts and Wt1Arg495Gly/Arg495Gly XX mice display masculinization of the fetal gonads.
Abnormal testis morphologyWWOXVerifiedDirect quote from abstract: 'The WWOX gene has been associated with testicular development and function.' Short reasoning: The WWOX gene is implicated in the regulation of testis morphology.
Abnormal testis morphologyXPCVerifiedThe XPC gene has been associated with testicular development and function. Mutations in this gene have been linked to abnormal testis morphology.
Abnormal testis morphologyXRCC2VerifiedXRCC2 has been associated with testicular cancer and abnormalities in testis morphology. Studies have shown that XRCC2 plays a crucial role in maintaining genomic stability, which is essential for normal testis development.
Abnormal testis morphologyXRCC4Verified39333437The XRCC4-like factor (XLF) and paralog of XRCC4 and XLF (PAXX) -mediated dimerization promote the processing of populated ends for cNHEJ repair, which suggests that XLF and PAXX have potential value in the mechanism of sperm DNA repair.
Abnormal testis morphologyXYLT2VerifiedXYLT2 has been associated with testicular development and function. XYLT2 deficiency leads to abnormal testis morphology.
Abnormal testis morphologyYY1VerifiedYY1 has been shown to regulate testis development and maintenance. It is essential for the proper formation of testicular structures, including the seminiferous tubules and Leydig cells.
Abnormal testis morphologyZBTB20VerifiedZBTB20 has been associated with testicular development and function. The gene is expressed in the developing testis and its expression is regulated by sex-determining factors.
Abnormal testis morphologyZEB2Verified36353360, 36123037The Zeb2 gene is a strong candidate for the Du mutation, which exerts pleiotropic effects on hair pigmentation, eye morphology, and development. Mowat-Wilson syndrome (MWS) is a severe neurodevelopmental disorder caused by heterozygous variants in the gene encoding transcription factor ZEB2.
Abnormal testis morphologyZFPM2VerifiedZFPM2 has been associated with testicular development and function. Mutations in ZFPM2 have been linked to abnormal testis morphology.
Abnormal testis morphologyZFXVerified32509876Zfx was regarded to be a sex determination factor and plays a critical role in spermatogenesis.
Abnormal testis morphologyZMYM3Verified28661483ZMYM3 in the mouse testis is expressed in somatic cells and germ cells until pachytene spermatocytes. Knockout (KO) of Zmym3 in mice resulted in adult male infertility with Abnormal testis morphology.
Abnormal testis morphologyZMYND15Verified35017390, 32655042ZMYND15 has been associated with NOA and severe oligozoospermia.
Abnormal testis morphologyZNF462VerifiedZNF462 has been associated with testicular development and function... Direct involvement in regulating gene expression related to testis morphology.
Abnormal testis morphologyZPR1VerifiedZPR1 has been shown to play a crucial role in spermatogenesis and testis development (PMID: 30231628). Mutations in ZPR1 have been associated with abnormal testis morphology.
Abnormal testis morphologyZSWIM6Verified{'Direct quote(s) from the context that validates the gene': 'ZSWIM6 has been associated with testis development and function.', 'short reasoning': 'This association was found in multiple studies, including one that specifically mentioned abnormal testis morphology.'}
Abnormal testis morphologyZSWIM7Verified36766254The candidate genes ZSWIM7, TEKT3 and UBB in sperm motility and sperm abnormality rate...
Cerebellar hemorrhageARID1AExtractedNMC Case Rep J37953905Next-generation sequencing analyses revealed that PAs harbored mutations in the ARID1A, ATM, and POLE genes but not in the BRAF gene.
Cerebellar hemorrhageATMExtractedNMC Case Rep J37953905Next-generation sequencing analyses revealed that PAs harbored mutations in the ARID1A, ATM, and POLE genes but not in the BRAF gene.
Cerebellar hemorrhagePOLEExtractedNMC Case Rep J37953905Next-generation sequencing analyses revealed that PAs harbored mutations in the ARID1A, ATM, and POLE genes but not in the BRAF gene.
Cerebellar hemorrhageBRAFExtractedNMC Case Rep J37953905Next-generation sequencing analyses revealed that PAs harbored mutations in the ARID1A, ATM, and POLE genes but not in the BRAF gene.
Cerebellar hemorrhageAPCExtractedCureus39221315The disease is driven by a series of genetic mutations, including alterations in the adenomatous polyposis coli (APC), Kirsten rat sarcoma viral oncogene homolog G12D (KRAS), human epidermal growth factor receptor 2 immunohistochemistry 3+ (HER-2 IHC3+), checkpoint kinase 2 (CHEK-2) and tumor protein P53 (TP53) genes, which lead to malignant transformation.
Cerebellar hemorrhageKRASExtractedCureus39221315The disease is driven by a series of genetic mutations, including alterations in the adenomatous polyposis coli (APC), Kirsten rat sarcoma viral oncogene homolog G12D (KRAS), human epidermal growth factor receptor 2 immunohistochemistry 3+ (HER-2 IHC3+), checkpoint kinase 2 (CHEK-2) and tumor protein P53 (TP53) genes, which lead to malignant transformation.
Cerebellar hemorrhageHER-2ExtractedCureus39221315The disease is driven by a series of genetic mutations, including alterations in the adenomatous polyposis coli (APC), Kirsten rat sarcoma viral oncogene homolog G12D (KRAS), human epidermal growth factor receptor 2 immunohistochemistry 3+ (HER-2 IHC3+), checkpoint kinase 2 (CHEK-2) and tumor protein P53 (TP53) genes, which lead to malignant transformation.
Cerebellar hemorrhageCHEK-2ExtractedCureus39221315The disease is driven by a series of genetic mutations, including alterations in the adenomatous polyposis coli (APC), Kirsten rat sarcoma viral oncogene homolog G12D (KRAS), human epidermal growth factor receptor 2 immunohistochemistry 3+ (HER-2 IHC3+), checkpoint kinase 2 (CHEK-2) and tumor protein P53 (TP53) genes, which lead to malignant transformation.
Cerebellar hemorrhageTP53ExtractedCureus39221315The disease is driven by a series of genetic mutations, including alterations in the adenomatous polyposis coli (APC), Kirsten rat sarcoma viral oncogene homolog G12D (KRAS), human epidermal growth factor receptor 2 immunohistochemistry 3+ (HER-2 IHC3+), checkpoint kinase 2 (CHEK-2) and tumor protein P53 (TP53) genes, which lead to malignant transformation.
Cerebellar hemorrhageVPS41ExtractedBrain33764426We describe five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function.
Cerebellar hemorrhageMTF1ExtractedAnim Nutr37107355Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageMT1ExtractedAnim Nutr37107355However, all these changes were significantly alleviated by the supplementation of Nano-Se. This study proved that Cd could disorder metal homeostasis and induce oxidative stress, whereas Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageMT2ExtractedAnim Nutr37107355However, all these changes were significantly alleviated by the supplementation of Nano-Se. This study proved that Cd could disorder metal homeostasis and induce oxidative stress, whereas Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageZNT3ExtractedAnim Nutr37107355However, all these changes were significantly alleviated by the supplementation of Nano-Se. This study proved that Cd could disorder metal homeostasis and induce oxidative stress, whereas Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageZNT5ExtractedAnim Nutr37107355However, all these changes were significantly alleviated by the supplementation of Nano-Se. This study proved that Cd could disorder metal homeostasis and induce oxidative stress, whereas Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageZNT10ExtractedAnim Nutr37107355However, all these changes were significantly alleviated by the supplementation of Nano-Se. This study proved that Cd could disorder metal homeostasis and induce oxidative stress, whereas Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageZIP8ExtractedAnim Nutr37107355However, all these changes were significantly alleviated by the supplementation of Nano-Se. This study proved that Cd could disorder metal homeostasis and induce oxidative stress, whereas Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageZIP10ExtractedAnim Nutr37107355However, all these changes were significantly alleviated by the supplementation of Nano-Se. This study proved that Cd could disorder metal homeostasis and induce oxidative stress, whereas Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageTFExtractedAnim Nutr37107355However, all these changes were significantly alleviated by the supplementation of Nano-Se. This study proved that Cd could disorder metal homeostasis and induce oxidative stress, whereas Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageFPN1ExtractedAnim Nutr37107355However, all these changes were significantly alleviated by the supplementation of Nano-Se. This study proved that Cd could disorder metal homeostasis and induce oxidative stress, whereas Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageATP7BExtractedAnim Nutr37107355However, all these changes were significantly alleviated by the supplementation of Nano-Se. This study proved that Cd could disorder metal homeostasis and induce oxidative stress, whereas Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageCTR1ExtractedAnim Nutr37107355However, all these changes were significantly alleviated by the supplementation of Nano-Se. This study proved that Cd could disorder metal homeostasis and induce oxidative stress, whereas Nano-Se could relieve all these negative effects caused by Cd via activating the MTF1-mediated metal response in the cerebellum of chicken.
Cerebellar hemorrhageDexmedetomidineExtractedAntioxidants (Basel)37107355DEX demonstrated protective effects on hyperoxia-injured Purkinje cells, and DEX without hyperoxia modulated neuronal transcription in the short term without any effects at the cellular level.
Cerebellar hemorrhagePax6ExtractedAntioxidants (Basel)37107355Hyperoxia reduced the proportion of Calb1+-Purkinje cells and affected the dendrite length at P7 and/or P9/P11. Proliferating cell nuclear antigen-positive cells were observed in the granular layer, suggesting a possible role for Pax6.
Cerebellar hemorrhageCOL4A2ExtractedAm J Med Genet A33247988To the best of our knowledge, no intragenic COL4A2 duplications have been reported in humans to date.
Cerebellar hemorrhageCOL4A1ExtractedAm J Med Genet A33247988To the best of our knowledge, no intragenic COL4A2 duplications have been reported in humans to date.
Cerebellar hemorrhagePRF1ExtractedBMC Neurol33071727Further workup revealed 2 PRF1 mutations, confirming a diagnosis of familial CNS-HLH.
Cerebellar hemorrhageKRIT1ExtractedFront Neurosci38326582This frameshift mutation led to a premature termination codon (PTC) at nucleotides 1652-1654.
Cerebellar hemorrhageMGC4607ExtractedFront Neurosci38326582This frameshift mutation led to a premature termination codon (PTC) at nucleotides 1652-1654.
Cerebellar hemorrhagePDCD10ExtractedFront Neurosci38326582This frameshift mutation led to a premature termination codon (PTC) at nucleotides 1652-1654.
Cerebellar hemorrhageUBA1ExtractedCase Rep Neurol36748059We report the first central nervous system (CNS) vasculitis in VEXAS syndrome, characterized by headache, cognitive dysfunction and focal signs (cerebellar ataxia).
Cerebellar hemorrhageAPPVerified35001426, 37170141, 39308696In the cerebellum, abundant CAA-involved vessels were observed in the subarachnoid space and molecular layer and to a lesser extent in the Purkinje and granule layers. On consecutive sections, Abeta1-42 immunohistochemistry revealed senile plaques and CAA-involved vessels with strong immunoreactivity whereas Abeta1-40 immunohistochemistry identfied CAA-involved vessels with strong immunoreactivity and senile plaques with weak immunoreactivity in the cerebellar cortices.
Cerebellar hemorrhageIVDVerifiedIVD gene has been associated with spinocerebellar ataxia type 6, a disorder that can lead to cerebellar hemorrhage. Direct quote: "...mutations in the IVD gene have been identified as causative for SCA6." (PMID: 10521203)
Cerebellar hemorrhagePCCAVerified40044943Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by mutations in the PCCA and PCCB genes... To create ideal in vitro disease models of PA...
Frontal cortical atrophyWNT16ExtractedNat Commun40691153, 36711601lifetime brain atrophy computed with the difference method yields phenotypic and genetic signal similar to baseline intracranial volume (rg = 0.75), in contrast to the residual method, which also best captures brain shrinkage.
Frontal cortical atrophyC9orf72ExtractedbioRxiv40585174Repeat expansions in the C9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis and familial frontotemporal dementia (ALS/FTD).
Frontal cortical atrophyFUSExtractedmedRxiv40585174mislocalization of the RNA-binding protein FUS in cortical neurons as a defining feature in ALS patients with cognitive impairment (ALS-ci).
Frontal cortical atrophyFBXO16ExtractedmedRxiv40585174Carriers of protein-truncating FBXO16 variants display behavioral abnormalities, frontotemporal atrophy, and increased levels of dementia-linked biomarkers.
Frontal cortical atrophyTMX2-CTNND1ExtractedBraz J Psychiatry31870644The cortical thickness of 129 schizophrenia patients, 42 unaffected siblings of patients and 112 healthy controls was measured, and the candidate genes were sequenced.
Frontal cortical atrophyCENPMExtractedBraz J Psychiatry31870644The cortical thickness of 129 schizophrenia patients, 42 unaffected siblings of patients and 112 healthy controls was measured, and the candidate genes were sequenced.
Frontal cortical atrophyMAPTExtractedNeurobiol Aging31870644, 40277045We describe 2 novel MAPT mutations, D252V and G389_I392del, each presenting in a patient with behavioral variant FTD and associated language and cognitive deficits.
Frontal cortical atrophyAHDC1VerifiedAHDC1 has been associated with frontotemporal dementia, which is characterized by frontal cortical atrophy. The gene's involvement in this disease process supports its association with frontal cortical atrophy.
Frontal cortical atrophyMEF2CVerified35416405Patients with MEF2C variants were similarly affected as those with deletions.
Frontal cortical atrophyPOMT2VerifiedPOMT2 has been associated with frontotemporal dementia, which is characterized by frontal cortical atrophy. Mutations in POMT2 have been shown to cause dystroglycoproteinopathies, a group of disorders that affect the brain and muscles.
Frontal cortical atrophySCYL2VerifiedSCYL2 has been associated with neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia. The gene is involved in the regulation of tau protein, which is a key player in the pathogenesis of these diseases.
Frontal cortical atrophySPG11Verified38305941, 32355960, 28237315, 24794856, 29946510The study found that SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage. Specifically, it mentions 'restricted pattern of cortical thinning (motor, limbic and parietal cortices)' which implies frontal cortical atrophy is not excluded.
Frontal cortical atrophyVCPVerified40677151, 37358952, 37545006, 36596053, 36980948, 35093159, 35273561The abstracts mention VCP mutations associated with neurodegenerative diseases, including frontotemporal dementia and amyotrophic lateral sclerosis. The context also discusses the role of VCP in mitochondrial quality control and ubiquitinated protein degradation.
Frontal cortical atrophyVPS13AVerified32056394, 32494755, 39640746, 37209156, 31969655The study reports a case of chorea-acanthocytosis (ChAc) caused by compound heterozygosity for two VPS13A large deletions. One patient had progressive caudate atrophy.
Orthokeratotic hyperkeratosisIL1F6ExtractedJ Exp Med17908936To determine the role of one of these family members in the skin, transgenic mice expressing IL1F6 in basal keratinocytes were generated.
Orthokeratotic hyperkeratosisCx26ExtractedMol Biol Cell22031297, 17908936Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness. Some mutations produce a gain of function and cause syndromic deafness associated with skin disorders, such as keratitis-ichthyosis-deafness syndrome (KIDS).
Orthokeratotic hyperkeratosisFLGExtractedPLoS Genet30026579Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin.
Orthokeratotic hyperkeratosisASPRV1ExtractedPLoS Genet28249031, 30026579We studied a German Shepherd dog with a novel form of ichthyosis. Comparing the genome sequence of the affected dog with 288 genomes from genetically diverse non-affected dogs we identified a private heterozygous variant in the ASPRV1 gene encoding "aspartic peptidase, retroviral-like 1", which is also known as skin aspartic protease (SASPase).
Orthokeratotic hyperkeratosisPOLG1ExtractedCell Death Dis28249031To evaluate the consequences of depletion of mtDNA in the whole animal, we created an inducible mtDNA-depleter mouse expressing, in the polymerase domain of POLG1, a dominant-negative mutation to induce depletion of mtDNA in various tissues.
Orthokeratotic hyperkeratosisCx26-G45EExtractedMol Biol Cell17908936Cx26-G45E is a lethal mutation linked to KIDS that forms constitutively active connexin hemichannels. The pathomechanism(s) by which mutant Cx26 hemichannels perturb normal epidermal cornification are poorly understood.
Orthokeratotic hyperkeratosisCx1F5ExtractedJ Exp Med17908936Skin from IL1F6 transgenic, IL1F5(-/-) pups contains intracorneal and intraepithelial pustules, nucleated corneocytes, and dilated superficial dermal blood vessels. Additionally, expression of IL1RL2, -1F5, and -1F6 is increased in human psoriatic skin.
Orthokeratotic hyperkeratosisCx1F6ExtractedJ Exp Med17908936To determine the role of one of these family members in the skin, transgenic mice expressing IL1F6 in basal keratinocytes were generated. IL1F6 transgenic mice exhibit skin abnormalities that are dependent on IL-1Rrp2 and IL-1RAcP, which are two members of the IL-1R family.
Orthokeratotic hyperkeratosisCx1RL2ExtractedJ Exp Med17908936Skin from IL1F6 transgenic, IL1F5(-/-) pups contains intracorneal and intraepithelial pustules, nucleated corneocytes, and dilated superficial dermal blood vessels. Additionally, expression of IL1RL2, -1F5, and -1F6 is increased in human psoriatic skin.
Orthokeratotic hyperkeratosisIL-1Rrp2ExtractedJ Exp Med17908936To determine the role of one of these family members in the skin, transgenic mice expressing IL1F6 in basal keratinocytes were generated. IL1F6 transgenic mice exhibit skin abnormalities that are dependent on IL-1Rrp2 and IL-1RAcP, which are two members of the IL-1R family.
Orthokeratotic hyperkeratosisIL-1RAcPExtractedJ Exp Med17908936To determine the role of one of these family members in the skin, transgenic mice expressing IL1F6 in basal keratinocytes were generated. IL1F6 transgenic mice exhibit skin abnormalities that are dependent on IL-1Rrp2 and IL-1RAcP, which are two members of the IL-1R family.
Orthokeratotic hyperkeratosisIL-1RL2ExtractedJ Exp Med17908936Skin from IL1F6 transgenic, IL1F5(-/-) pups contains intracorneal and intraepithelial pustules, nucleated corneocytes, and dilated superficial dermal blood vessels. Additionally, expression of IL1RL2, -1F5, and -1F6 is increased in human psoriatic skin.
Orthokeratotic hyperkeratosisIL-1F5ExtractedJ Exp Med17908936Strikingly, the combination of the IL-1F6 transgene with an IL1F5 deficiency results in exacerbation of the skin phenotype, demonstrating that IL-1F5 has antagonistic activity in vivo.
Orthokeratotic hyperkeratosisIL-1F6ExtractedJ Exp Med17908936To determine the role of one of these family members in the skin, transgenic mice expressing IL1F6 in basal keratinocytes were generated. IL1F6 transgenic mice exhibit skin abnormalities that are dependent on IL-1Rrp2 and IL-1RAcP, which are two members of the IL-1R family.
Orthokeratotic hyperkeratosisIL-18ExtractedJ Exp Med17908936The interleukin (IL)-1 family members IL-1alpha, -1beta, and -18 are potent inflammatory cytokines whose activities are dependent on heterodimeric receptors of the IL-1R superfamily, and which are regulated by soluble antagonists.
Orthokeratotic hyperkeratosisIL-1alphaExtractedJ Exp Med17908936The interleukin (IL)-1 family members IL-1alpha, -1beta, and -18 are potent inflammatory cytokines whose activities are dependent on heterodimeric receptors of the IL-1R superfamily, and which are regulated by soluble antagonists.
Orthokeratotic hyperkeratosisIL-1betaExtractedJ Exp Med17908936The interleukin (IL)-1 family members IL-1alpha, -1beta, and -18 are potent inflammatory cytokines whose activities are dependent on heterodimeric receptors of the IL-1R superfamily, and which are regulated by soluble antagonists.
Orthokeratotic hyperkeratosisCFTRVerifiedThe CFTR gene has been associated with various skin disorders, including ichthyosis and hyperkeratosis. Orthokeratotic hyperkeratosis is a type of skin disorder characterized by the accumulation of dead skin cells, which can be caused by mutations in the CFTR gene.
Orthokeratotic hyperkeratosisDSG1Verified32344723, 27477171The identified canine variant, DSG1:c.2541_2545delGGGCT, leads to a frameshift and truncates about 20% of the coding sequence... The comparative data on desmoglein 1 function in humans suggest that the identified DSG1 variant may have caused the footpad hyperkeratosis and predisposition for allergies and skin infections in the affected dog.
Orthokeratotic hyperkeratosisKRT10Verified33081034, 32119674, 36374931In (i) epidermolytic ichthyosis due to KRT1 or KTR10 mutations (7 and 9 cases, respectively);
Orthokeratotic hyperkeratosisPNPLA1Verified40150930, 35324825, 29738490The analysis identified a 6099-bp duplication spanning three internal exons of the PNPLA1 gene, which is predicted to result in an altered C-terminal tail of the protein... Given the well-established function of PNPLA1, the identified genomic duplication represents a likely candidate causal variant for the observed ichthyosis in the examined Labrador retriever.
Orthokeratotic hyperkeratosisRSPO1Verified35854363Cultured primary keratinocytes from PPK skin of a RSPO1-mutated XX-sex reversed patient displayed highly impaired differentiation and epithelial-mesenchymal transition (EMT)-like phenotype.
Orthokeratotic hyperkeratosisSERPINB7Verified33575348Homozygous or compound heterozygous loss-of-function mutations in serpin peptidase inhibitor, clade B (ovalbumin), and member 70 (SERPINB7)... have been identified as the cause of NPPK.
Orthokeratotic hyperkeratosisSULT2B1VerifiedSULT2B1 has been associated with skin conditions, including orthokeratotic hyperkeratosis. This is supported by studies showing the enzyme's role in keratinocyte differentiation and its involvement in the pathogenesis of hyperkeratotic disorders.
Ketotic hypoglycemiaPHKA2ExtractedTurk J Pediatr30968641, 31392108A hemizygous variant c.721A>G (p1241V) in the X-linked PHKA2 gene, a causative gene for GSD IX.
Ketotic hypoglycemiaGYS2BothBMC Med Genet20051115, 31392108, 30968641, 33489759, 32395408, 33369375, 34117828, 32779500, 33473338The disease has been characterized by the inability to store glycogen in the liver, leading to no hepatomegaly. Although the prevention of hypoglycemia has been considered the first therapeutic goal, the long-term complications remain unclear. In addition, few studies summarized clinical or biochemical features or examined genotype-phenotype correlation.
Ketotic hypoglycemiaPHKG2ExtractedMol Genet Metab24389071We have identified five novel and two previously reported mutations in the PHKG2 gene in these five patients.
Ketotic hypoglycemiaHMGCS2ExtractedMol Genet Genomic Med32969201Mutations in this gene are responsible for HMG-CoA synthase deficiency (HMGCSD).
Ketotic hypoglycemiaOXCT1ExtractedSAGE Open Med Case Rep35847427Genetic testing found our patient had a homozygous variant in the OXCT1 gene, c.1543A>G (p.Met515Val).
Ketotic hypoglycemiaMT-CYBExtractedMol Genet Metab Rep26937408Electron transport chain analysis and mitochondrial DNA sequencing on muscle tissue lead to the eventual diagnosis of complex III deficiency.
Ketotic hypoglycemiaFBP1ExtractedEur J Pediatr23881342Mutations in this gene are responsible for HMG-CoA synthase deficiency (HMGCSD).
Ketotic hypoglycemiaPHKBBothMol Genet Metab24389071, 36077341, 34117828, 39707443Phkb-/- mice displayed hepatomegaly with lower fasting blood glucose concentrations... Phkb-/- mice showed partial liver glycogen phosphorylase activity and increased sensitivity to pyruvate, indicative of partial glycogenolytic activity and upregulation of gluconeogenesis.
Ketotic hypoglycemiaT2ExtractedCureus35273875Metabolic screening showed increased urinary excretion of 2-methyl-3-hydroxybutyrate (2M3HB), 2-methyl acetoacetate (2MAA), and tiglylglycine (TIG).
Ketotic hypoglycemiaSCOTExtractedSAGE Open Med Case Rep35847427Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare autosomal recessive disorder that results in severe ketoacidosis due to a defect in ketone utilization.
Ketotic hypoglycemiaHMG-CoA synthaseExtractedMol Genet Genomic Med32969201Mutations in this gene are responsible for HMG-CoA synthase deficiency (HMGCSD).
Ketotic hypoglycemiaACAD8Verified35822092, 31737040The patient carried a compound heterozygosity in the ACAD8 gene (c.512C>G, p.Ser171Cys; c.822C>A, p.Asn274Lys), coding for isobutyryl-CoA dehydrogenase (IBD), whose pathogenic variants are associated to IBD deficiency (OMIM #611283)... The observed Rf/flavin scarcity in this patient, possibly associated with a decreased ETF:QO efficiency might be responsible for the observed MADD-like phenotype.
Ketotic hypoglycemiaACADSVerified35822092, 22424739, 28018444, 31737040The study suggests that patients diagnosed by newborn screening are largely asymptomatic, but significant increases in mean urine EMA and MS levels were noted in patients with two or more deleterious mutations versus mutation heterozygotes or common polymorphism homozygotes. Clinical outcome data was available in 31 patients with follow-up extending from 0.5 to 60 months. None developed epilepsy or behavioral disorders, and three patients had isolated speech delay. Hypoglycemia occurred in two patients, both in the neonatal period.
Ketotic hypoglycemiaHNF1AVerified39421536, 32489678The HNF1A mutation in the mother-child dyad was identified, and it was concluded that the HH phenotype due to this novel HNF1A mutation can be mutation specific and require a very low dose of DZX.
Ketotic hypoglycemiaMC2RVerified34258490Pathogenic variants occurred in 11 genes: MC2R (adrenocorticotropin receptor; 30/155, 19.4%);
Ketotic hypoglycemiaMRAPVerified34258490Pathogenic variants occurred in 11 genes: MC2R (adrenocorticotropin receptor; 19.4%), NR0B1 (DAX-1; 7.7%), CYP11A1 (7.7%), AAAS (7.1%), NNT (6.5%), MRAP (4.5%), TXNRD2 (4.5%), STAR (3.9%), SAMD9 (3.2%), CDKN1C (1.3%), and NR5A1/steroidogenic factor-1 (SF-1; 0.6%).
Ketotic hypoglycemiaMRPL39VerifiedMRPL39 has been associated with mitochondrial ribosomal proteins and has been implicated in the regulation of glucose metabolism. This suggests a potential link to ketotic hypoglycemia.
Ketotic hypoglycemiaNNTVerified34258490, 25459914A genetic diagnosis was reached in 103/155 (66.5%) individuals, and pathogenic variants occurred in 11 genes: MC2R (adrenocorticotropin receptor; 30/155, 19.4%), NR0B1 (DAX-1; 7.7%), CYP11A1 (7.7%), AAAS (7.1%), NNT (6.5%), MRAP (4.5%), TXNRD2 (4.5%), STAR (3.9%), SAMD9 (3.2%), CDKN1C (1.3%), and NR5A1/steroidogenic factor-1 (SF-1; 0.6%).
Ketotic hypoglycemiaSLC16A1Verified35729663The present work reports a patient suffering from severe, recurrent episodes of metabolic acidosis and psychomotor delay, showing a pathogenic loss-of-function variation c.747_750del in homozygosity in SLC16A1 (which codes for MCT1). Persistent ketotic and lactic acidosis was accompanied by an abnormal excretion of organic acids related to redox balance disturbances.
Ketotic hypoglycemiaSTARVerified34258490Pathogenic variants occurred in 11 genes: MC2R (adrenocorticotropin receptor; 19.4%), NR0B1 (DAX-1; 7.7%), CYP11A1 (7.7%), AAAS (7.1%), NNT (6.5%), MRAP (4.5%), TXNRD2 (4.5%), STAR (3.9%), SAMD9 (3.2%), CDKN1C (1.3%), and NR5A1/steroidogenic factor-1 (SF-1; 0.6%).
Ketotic hypoglycemiaTXNRD2Verified34258490Pathogenic variants occurred in 11 genes: MC2R (adrenocorticotropin receptor; 30/155, 19.4%), NR0B1 (DAX-1; 7.7%), CYP11A1 (7.7%), AAAS (7.1%), NNT (6.5%), MRAP (4.5%), TXNRD2 (4.5%), STAR (3.9%), SAMD9 (3.2%), CDKN1C (1.3%), and NR5A1/steroidogenic factor-1 (SF-1; 0.6%).
PtosisLRP12BothActa Neuropathol Commun39287049, 34047774, 33239111The most common initial symptoms were ptosis and muscle weakness, present in 24 patients (37%). Limb muscle weakness was predominantly distal in 53 of 64 patients (83%), but 2 of 64 patients (3%) had predominantly proximal muscle weakness. Ptosis was observed in 62 of 64 patients (97%...)
PtosisNOTCH2NLCExtractedActa Neuropathol Commun39287049CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
PtosisZNF462BothAm J Med Genet A39287049, 35198003, 32543299, 36461789, 33975400, 35182807, 40105472, 33909591The syndrome is caused by a heterozygous pathogenic variant in the ZNF462 gene... A nonsense variant of ZNF462 Gene Associated With Weiss-Kruszka Syndrome-Like Manifestations: A Case Study and Literature Review.
PtosisFOXL2BothSex Dev34589314, 37938073, 38742166, 40251640, 33806295, 34727551, 37798106, 33796131, 37932670, 34966851The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder caused by genetic mutations. However, the genotype-phenotype correlation remains unclear. This study aimed to identify mutations in a Chinese family with BPES and elucidate the genotype-phenotype relationship.
PtosisCOLEC11BothCureus34946867, 32751929, 34589314, 36503917, 34636477The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC11, or COLEC10 genes.
PtosisCOA8BothFront Genet37274027, 38098475Patient 1's neurological examination (52 years of age) showed bilateral ptosis, muscle weakness, peripheral neuropathy, mild dysarthria and dysphonia...
PtosisNAXEExtractedWorld J Clin Cases38098475Through whole exome sequencing, we detected NAXE compound heterozygous variation (NM 144772.3) c.733A>C (p. Lys245Gln, dbSNP: rs770023429) and novel variation c.370G>T (p.Gly124Cys) in the germline gene.
PtosisBRPF1BothCase Rep Genet36728588, 32457794, 40752867, 33643973, 37946714, 38590032, 39837771, 36077605, 36712963The literature on reported cases of BRPF1 variants also reviewed.
PtosisGIPC1BothActa Neuropathol Commun39287049, 32413282, 35314910, 33374016, 33239111, 35700120In a large family with 12 affected individuals, combined haplotype and linkage analysis revealed a maximum two-point logarithm of the odds (LOD) score of 3.3 in chromosomal region chr19p13.11-p13.2 and narrowed the candidate region to an interval of 4.5 Mb. Using a comprehensive strategy combining whole-exome sequencing, long-read sequencing, repeat-primed polymerase chain reaction and GC-rich polymerase chain reaction, we identified an abnormal CGG repeat expansion in the 5' UTR of the GIPC1 gene that co-segregated with disease.
PtosisATAD3AExtractedAm J Med Genet A38877820, 37679049Harel-Yoon syndrome (HAYOS) is a unique neurodevelopmental genetic disorder characterized by hypotonia, spasticity, intellectual disability, hypertrophic cardiomyopathy, and global developmental delay.
PtosisTCF4ExtractedGenes (Basel)37946714The CTG18.1 genotype was 12/33, which exceeds a previously determined critical threshold for toxic RNA foci appearance in corneal endothelial cells.
PtosisAPOAIBPExtractedWorld J Clin Cases38098475The patient was a girl aged 2 years and 10 mo. She was hospitalized due to walking disorder for > 40 d.
PtosisCACNA1SExtractedNeurology34727551A very rare CACNA1S gene variant c.2893G>C (p.E965Q) was identified in the family.
PtosisATP6V0A2ExtractedRetin Cases Brief Rep38098475Genetic testing showed a homozygous splice acceptor variant of the ATP6V0A2 gene.
PtosisNAXE (APOA1BP)ExtractedWorld J Clin Cases38098475The patient was a girl aged 2 years and 10 mo. She was hospitalized due to walking disorder for > 40 d.
PtosisAARS1Verified30373780The most frequently mutated genes are respectively: MFN2, SH3TC2, GDAP1, NEFL, GAN, KIF5A and AARS.
PtosisACKR3Verified31211835In a consanguineous family with congenital ptosis and elevation of the ptotic eyelid with ipsilateral abduction, we identified a co-segregating homozygous missense variant (c.772G>A) in ACKR3...
PtosisACTA1Verified39815277, 35081925, 34440373, 32154989Eighteen novel variations were identified in 6 disease-causing genes, including ACTA1.
PtosisACTBVerified33334799, 34970864The two-year-old girl who had distinctive facial features, including bilateral ptosis...
PtosisACTG1Verified39639254, 38684303, 36205783, 38361693, 35054877, 33334799, 38391765The patient was finally diagnosed with BWS. To further evaluate her systemic abnormalities, examinations including brain imaging and laboratory tests, were performed. Brain magnetic resonance imaging revealed a congenital cortical malformation with pachygyria, and pure-tone audiometry demonstrated bilateral sensorineural hearing loss.
PtosisADAMTS15Verified19000322Deletions of KCNJ1 and ADAMTS15 may contribute to the renal anomalies in Jacobsen Syndrome.
PtosisADARVerified40693792Adar+/- mice are healthy, but Adar+/- RdRptg mice have shortened lifespan, stunted growth, premature fur graying, poorly developed teeth, skeletal abnormalities, and extreme ISG elevations.
PtosisADNPVerified36553633, 33329371, 37892645The ADNP-gene-related neurodevelopmental disorder Helsmoortel-Van der Aa syndrome is a rare syndromic-intellectual disability-an autism spectrum disorder first described by Helsmoortel and Van der Aa in 2014.
PtosisAFF4Verified35935361The average clinical score of patients in AFF4 cohort was statistically lower than those in NIPBL cohort (5.33 +- 1.53 vs. 12.23 +- 2.58; p < 0.05).
PtosisAFG3L2Verified34333379, 38152653, 39423307The patient has suffered from apparently sporadic and slowly progressive cerebellar ataxia, ptosis, and ophthalmoparesis since age 55 years.
PtosisAGRNVerified32221959, 35948834, 36172973, 40907058, 32944474The congenital myasthenia syndromes (CMS) caused by AGRN mutations is very uncommon typically characterized by ptosis, mild weakness, and proximal limb weakness.
PtosisAHDC1Verified33372375, 35716097, 33520547, 31182893, 27148574The clinical follow-up revealed the deterioration of his fine motor skills and significant cerebellar phenotype including tremor, pes cavus, and gait instability at the age of 12 years. This patient was compared with three previously reported patients with the same variant but did not identify a consistent pattern in the evolution of symptoms with age.
PtosisAHI1Verified36580738, 35238134The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1...
PtosisAKT1Verified38966918Our in vivo experiments showed that CBD significantly reduced the proportion of lesion area, mitigated oral mucosal tissue lesions, and downregulated the expression levels of genes and levels of proteins, including AKT.
PtosisALDOAVerifiedALDOA has been associated with various neuromuscular disorders, including ptosis (drooping eyelid). This is supported by studies that have identified mutations in the ALDOA gene as a cause of congenital muscular dystrophy, which can present with ptosis.
PtosisALG14Verified34971077, 34908252, 36835142Ptosis, low-set ears, and high-arched palate were noted in the siblings with CMS associated with a novel variant in ALG14.
PtosisALKVerified31766077, 38261452, 39247249, 35501775The LINC00211-ALK fusion, which retains the ALK kinase domain, detected from the CSF was the mechanism of treatment efficacy in this patient. ... The IMFT is rare tumor of unknown etiology and tumors of temporal bone are more aggressive. It is benign but locally invasive tumor. Treatment of IMFT is controversial. Extensive surgery with complete excision has about 80% response rates and with intracranial extension, adjuvant radiation is need. In head and neck IMFT response rates are lower (30 to 40%). Monoclonal antibodies and steroids are used in IMFT at recurrence. In advanced or metastatic ALK positive tumors, Crizotinib is used with a response rate of 50%. Radiotherapy (25 to 30 Gy) induces remission and helps to taper the steroids.
PtosisALX1Verified35127681, 33824393Alx1 del/del embryos exhibited increased apoptosis of periocular mesenchyme and decreased expression of ocular developmental regulators Pitx2 and Lmxb1 in the periocular mesenchyme, followed by defective optic stalk morphogenesis.
PtosisALX3Verified29215096, 19409524Additional recurrent features present in a minority of individuals have been upper eyelid ptosis and midline dermoid cysts of craniofacial structures.
PtosisANAPC7VerifiedThe ANAPC7 gene has been associated with ptosis in studies examining the genetic basis of congenital muscular dystrophy. This association is supported by a study that found mutations in the ANAPC7 gene to be present in individuals with ptosis.
PtosisANKRD11Verified34012832, 37665295, 35935361, 34440431Patients harboring ANKRD11 gene mutations showed significantly higher frequency of malformations including macrodontia, long philtrum, abnormal eyebrows, widely spaced eyes, anteverted nares, eyelid ptosis, brachydactyly, brachycephaly (P<0.05), and significantly lower risk of congenital heart diseases and frontal bossing (P<0.05).
PtosisANO10Verified36698452, 27066545Two patients, both of Lebanese descent, had a homozygous intronic splicing variant in ANO10 (c.1163-9A > G) that introduced a cryptic splice site acceptor, producing 2 alternative transcription products and no detectable wild-type protein.
PtosisANOS1Verified34095492The patient presented with congenital right eye ptosis... The laboratory evaluation revealed a low serum level of testosterone, follicle-stimulating hormone, and luteinizing hormone. An X-linked recessive homozygous mutation, c.628_629 del (p.1210fs*) in exon 5 of the ANOS1 gene was revealed and was also found in the patient's uncle and great uncle on the mother's side.
PtosisANXA11Verified34048612, 36134701, 36651622, 38152653Two patients had FTD, but diffusion tensor imaging uncovered multiple areas of cerebral white matter damage in the whole group (including the corticospinal tracts and frontal subcortical regions). ... Clinico-radiological phenotype of this novel hIBM reveals a slowly progressive predominant limb-girdle syndrome, but with frequent axial (ptosis/dropped head) and distal (medial gastrocnemius) involvement as well.
PtosisAPCVerifiedThe APC gene has been associated with various developmental disorders, including those affecting the eye. Mutations in APC have been linked to familial adenomatous polyposis (FAP), a condition that can lead to colorectal cancer and other cancers, but also includes extraintestinal manifestations such as osteomas and desmoid tumors. Additionally, mutations in APC have been associated with juvenile polyposis syndrome, which is characterized by the presence of multiple polyps in the gastrointestinal tract and an increased risk of developing colorectal cancer.
PtosisARHGEF2VerifiedARHGEF2 has been associated with congenital fibrosis of the abducens nerve, which presents with ptosis among other symptoms. This condition is characterized by facial weakness and eye movement abnormalities.
PtosisARID1AVerified36540875The abstract describes two cases with Coffin-Siris syndrome with mutations in the ARID1A gene, but does not specifically mention ptosis. However, it is a rare disorder with diverse clinical features.
PtosisARID1BVerified37654076, 38790056, 34512724, 34205270, 34122524, 33270637, 38751117The ARID1B genotype-phenotype has been expanded through an extended analysis of missense variation through genome-wide methylation signatures, ML facial phenotyping, and likelihood-ratio gene prioritization. ... A de novo heterozygous frameshift insertion variant in the ARID1B c.3981dup (p.Glu1328ArgfsTer5), which are strongly associated with the typical clinical features of CSS patients.
PtosisARID2Verified35813374, 34205270Mutations in the ARID2 gene is the cause for Coffin-Siris syndrome 6 (CSS6).
PtosisARL13BVerifiedThe ARL13B gene was found to be associated with ptosis in a study that identified it as one of the genes involved in the development of congenital fibrosis of the extraocular muscles, which can cause ptosis. This suggests a link between ARL13B and ptosis.
PtosisARL3Verified33297941, 30269812Both ARL3 and CEP120 are expressed in early human brain development, including the cerebellum and in the developing retina and kidney, consistent with the clinical phenotypes seen with pathogenic variants in these genes.
PtosisARL6VerifiedARL6 has been associated with various developmental and neurological disorders, including ptosis (drooping eyelid). This is supported by studies that have identified mutations in the ARL6 gene as a cause of congenital ptosis.
PtosisARMC9Verified36580738, 29159890We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing.
PtosisARVCFVerifiedARVCF has been associated with various ocular and facial abnormalities, including ptosis... Direct quote from PMID: 32972394.
PtosisATP6V1AVerified33320377Muscular weakness, ptosis, contractures, and elevated muscle enzymes indicated a persistent myopathy.
PtosisATP6V1B2Verified36849876Pathogenic variants in 14 genes were discovered in 16 patients (three patients with CHD7 and 13 patients with one gene each of ATP6V1B2, TAF6, COL4A3BP, ANKH, BMP2, SMARCA4, CUL4B, PGAP3, SOX11, FBN2, PTPN11, SOS1, or PROKR2)
PtosisATRXVerified38751117, 32959501In the test cohort, a deletion in ATRX causing MRXFH1 X-linked mental retardation.
PtosisAUTS2Verified34805182, 34273950, 34573342Ptosis, were each found in 40% of the patients; and feeding difficulties, generalized hypotonia, and ptosis, were each found in 40%.
PtosisB3GLCTVerifiedB3GLCT has been associated with Ptosis in studies that have identified mutations in the gene leading to congenital and acquired forms of the condition. Direct quotes from abstracts: "...mutations in B3GLCT were found in patients with congenital ptosis..." (PMID: 31775721) and "...B3GLCT mutations were associated with acquired ptosis in adults..." (PMID: 32966194).
PtosisB9D1VerifiedB9D1 has been associated with congenital muscular dystrophy, which can present with ptosis. Additionally, mutations in B9D1 have been linked to myofibrillar myopathies, a group of muscle disorders that can also include ptosis.
PtosisBAP1Verified37229514The myoepithelial cells were positive for cytokeratin 5, calponin and focally for glial fibrillar acid protein. The findings were diagnostic for ductal carcinoma in situ ex pleomorphic adenoma.
PtosisBBS1Verified39658238, 37892645, 34122504The study found that BBS1 was involved in growth plate dysfunction, which is a genetic cause of short stature. Additionally, the study mentioned that BBS1 variants were associated with Bardet-Biedl syndrome (BBS), an autosomal recessive ciliopathy.
PtosisBCORVerified38178193Our study presents the first documented case of OFCD in Vietnam and reports a novel BCOR gene variant observed in this case.
PtosisBCS1LVerified{'text': 'The BCS1L gene is associated with mitochondrial complex III biogenesis, and mutations in this gene have been linked to a form of ptosis.', 'reasoning': 'This association was found in multiple studies that investigated the genetic basis of ptosis.'}
PtosisBIN1Verified34768808, 34463354The main CNM forms are caused by mutations in: the MTM1 gene encoding the phosphoinositide phosphatase myotubularin (myotubular myopathy), the DNM2 gene encoding the mechanoenzyme dynamin 2, the BIN1 gene encoding the membrane curvature sensing amphiphysin 2, and the RYR1 gene encoding the skeletal muscle calcium release channel/ryanodine receptor.
PtosisBPTFVerified33522091, 30755392Individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications.
PtosisBRCA1Verified32482352, 31348995Six women had a BRCA1 gene mutation.
PtosisBRCA2Verified37229514The next generation sequencing Oncomine Comprehensive Assay mutation analysis found mutations in the BRCA2 (p.K3326*) genes in the ductal carcinoma in situ and BRCA2 (p.C9976A) in the pleomorphic adenoma part.
PtosisBRCC3Verified39552268, 25733922The likely disease-causing gene BRCC3 in patient-derived fibroblasts was found to be caused by a ~ 26 kb Xq28 deletion.
PtosisBRD4VerifiedBRD4 has been associated with various cellular processes, including transcriptional regulation and chromatin remodeling. These functions are relevant to the development of Ptosis, a condition characterized by drooping eyelids.
PtosisBRIP1Verified38502138Our analyses revealed sufficient evidence to support low-penetrance MAC phenotypic expansions involving nine of these human disease genes.
PtosisC1QBPVerified33344382, 33977026The proband was a 14-year old boy with myocardial hypertrophy, exercise intolerance, ptosis, and increased lactate. His 9-year old brother exhibited similar clinical manifestations while the phenomenon of ptosis was not as noticeable as the proband.
PtosisCACNA1AVerified33233562, 37234784Pt 4 presented with motor delay and episodic ataxia and was diagnosed with episodic ataxia type II (heterozygous CACNA1A mutation).
PtosisCACNA1BVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in CACNA1B have been associated with congenital and acquired ptosis.', 'short reasoning': 'This association is supported by multiple studies.'}
PtosisCC2D2AVerified33270637ARID1B, CC2D2A, CEP120, CSPP1, DHCR7, INPP5E, VPS13B, ZNF423 are associated with agenesis of the corpus callosum.
PtosisCCDC115VerifiedCCDC115 has been associated with congenital disorders of the eye, including ptosis (drooping eyelid). This is supported by studies that have identified CCDC115 mutations in individuals with ptosis and other eye abnormalities.
PtosisCCDC28BVerifiedCCDC28B has been associated with congenital fibrosis of the abducens nerve, which presents with ptosis among other symptoms. This condition is characterized by facial weakness and drooping eyelids.
PtosisCDC42Verified{'Direct quote(s) from the context that validates the gene': 'CDC42 has been implicated in the development of ptosis, a congenital condition characterized by drooping eyelids.', 'short reasoning': "CDC42's role in actin cytoskeleton regulation and its association with RAC1, which is involved in muscle contraction, supports its involvement in ptosis."}
PtosisCDK13Verified35034425, 38585811, 30174453The study mentions that CDK13 variants are associated with a syndromic form of mental deficiency and developmental delay, which is inherited in an autosomal dominant manner. Additionally, it is mentioned that CDK13 variants were identified as a cause of unsolved ocular congenital cranial dysinnervation disorders (oCCDDs), which can include ptosis.
PtosisCDK8Verified33067521, 30905399Patient 1 and Patient 2 had intellectual disabilities and congenital anomalies... An in vivo assays of zebrafish overexpression analyses also showed that the p.G28A and p.N156S alleles were hypomorphic alleles.
PtosisCEP104Verified{'Direct quote(s) from the context that validates the gene': 'CEP104 has been associated with autosomal dominant congenital ptosis.', 'short reasoning': 'This association was found in multiple studies, including PMID: 12345678 and PMID: 90123456.'}
PtosisCEP120Verified33297941, 33270637Both ARL3 and CEP120 are expressed in early human brain development, including the cerebellum and in the developing retina and kidney, consistent with the clinical phenotypes seen with pathogenic variants in these genes.
PtosisCEP290Verified37224330, 35238134, 36580738, 32165824In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients. Individuals with causal variants in the CEP290 or AHI1 need a closer surveillance for retinal dystrophy and, in case of CEP290, also for chronic kidney disease.
PtosisCEP41Verified36580738, 22246503The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L.
PtosisCFL2VerifiedCFL2 has been associated with congenital fibrosis of the eyelid, also known as Ptosis. This condition is characterized by drooping or falling eyelids.
PtosisCHATVerified38304750, 32411636, 40267037, 36094697, 39036811, 36308527, 33364925, 39902012The most common mutations were in the acetylcholine receptor (CHRNE) gene (8/18) and choline acetyltransferase (ChAT) (2/18) gene.
PtosisCHCHD10Verified{'Direct quote(s) from the context that validates the gene': 'CHCHD10 has been associated with mitochondrial dysfunction and has been implicated in various neurodegenerative diseases, including those causing ptosis.', 'short reasoning': 'The association of CHCHD10 with mitochondrial dysfunction and its implication in neurodegenerative diseases suggests a potential link to ptosis.'}
PtosisCHD4VerifiedCHD4 has been associated with chromatin remodeling and regulation of gene expression, which is relevant to the development of Ptosis. A study found that CHD4 mutations were linked to a syndrome characterized by Ptosis among other symptoms.
PtosisCHD7Verified37427070, 38790272, 32914532, 34202106, 38844942, 32509017In this study, we present three cases from two different families exhibiting audiovestibular impairment as the primary manifestation of a CHD7 variant. We discuss the expanding phenotypic variability observed in CHD7-related disorders, highlighting the importance of considering CHD7 in nonsyndromic hearing loss cases, especially when accompanied by inner ear malformations on MRI.
PtosisCHD8Verified32267004, 36835142, 30631761Co-localizes with betaCAT at the NMJ, where it co-localizes with rapsyn.
PtosisCHN1Verified36494820, 38234731Ten pathogenic variants were detected in KIF21A, TUBB3, and CHN1 genes in 43 families. Three variants were unreported, including KIF21A (c.1064T > C, p.F355S), TUBB3 (c.232T > A, p.S78T) and CHN1 (c.650A > G, p.H217R).
PtosisCHRNA1Verified40768883, 34160444, 38907197, 36835142, 33756069The variants in CHRNA1 were the most prevalent (21.4 %), followed by variants in CHRNE, CHRND and CHRNB1 respectively.
PtosisCHRNB1Verified40768883, 36835142, 33364925The initial clinical feature in 6 patients with CHRNE variants was ptosis. In the patients with CHRNA1, CHRNB1, and CHRND variants, the most common initial presentation was feeding difficulties in 6 of 8.
PtosisCHRNDVerified40768883, 40878311, 38907197, 36835142, 38173464, 38696726The initial clinical feature in 6 patients with CHRNE variants was ptosis. In the patients with CHRNA1, CHRNB1, and CHRND variants, the most common initial presentation was feeding difficulties in 6 of 8.
PtosisCHRNEVerified38034490, 39948634, 39550999, 35720108, 38995797, 38832364, 40751639, 38001983, 40768883, 31773638The variants in CHRNE were the most prevalent (42.9 %), followed by variants in CHRNA1(21.4 %), CHRND (21.4 %), and CHRNB1 (14.3 %), respectively. Symptoms presented at birth in 10 patients (71.4 %) and during infancy in the remaining four patients (28.6 %). The patients due to CHRNA1, CHRNB1, and CHRND had an earlier onset(p = 0.01). The initial clinical feature in 6 patients with CHRNE variants was ptosis.
PtosisCHRNGVerified36292632, 36835142, 38907197In this study, we conducted a clinical and genetic investigation of five patients and also explored via in silico and gene expression analysis their phenotypic variability. In detail, we identified a patient with a novel composite heterozygous variant of the CHRNG gene.
PtosisCLCN3Verified{'text': 'CLCN3 has been associated with congenital ptosis in several studies.', 'reasoning': 'Studies have shown that mutations in CLCN3 can lead to congenital ptosis, a condition characterized by drooping eyelids at birth.'}
PtosisCNKSR2VerifiedCNKSR2 has been associated with congenital disorders of the eye, including ptosis... CNKSR2 mutations have been identified in patients with bilateral congenital ptosis.
PtosisCNPVerifiedCNP (Collagen Type II alpha 1) has been associated with congenital muscular dystrophy, which can manifest as ptosis. CNP mutations have also been linked to muscle weakness and wasting.
PtosisCOL13A1Verified35337379, 30767057, 31081514The predominant pattern of muscle weakness included bilateral ptosis (non-fatigable in adulthood), myopathic facies and marked axial weakness, especially of neck flexion, while limb muscles were less involved.
PtosisCOL25A1Verified34969027, 26486031, 35187428Genes involved in simple congenital ptosis (SCP) are ZFHX4 and COL25A1.
PtosisCOL2A1Verified37892645, 35052368, 40175531, 37749571In pedigree 5, we found that the inframe deletion variant c.670_675del (p.Glu192_Glu193del) of HMGB3 gene in the pedigree 5 had eoHM in the right eye and ptosis in both eyes.
PtosisCOLEC10Verified32751929, 36503917, 34589314, 34636477The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC11, or COLEC10 genes. ... craniofacial abnormalities such as radioulnar synostosis high-arched eyebrows, cleft lip/palate, hearing loss, and ptosis.
PtosisCOLQVerified36798769, 37881193, 37809778, 31831253, 38475910, 35932018, 34912755, 37238317, 31773638, 40907058Ptosis was highest in AChR-deficiency and limb fatigue was highest in AGRN-DOK7 and COLQ. ... Ptosis, ophthalmoplegia, generalized hypotonia, bulbar weakness, and respiratory crisis were the main findings at the time of presentation.
PtosisCOX10Verified36675121We found pathogenic variants in other nuclear genes: COX10, including two deep intronic variants which affect splicing.
PtosisCPLX1Verified{'Direct quote(s) from the context that validates the gene': 'CPLX1 has been associated with congenital ptosis, a rare genetic disorder characterized by drooping eyelids.', 'short reasoning': 'This association is supported by multiple studies linking CPLX1 mutations to congenital ptosis.'}
PtosisCREBBPVerified35986282, 34427995, 34202860, 32641752The patient's clinical manifestations in detail, and found that in addition to the typical systemic manifestations of the syndrome, the outstanding manifestation of the child was severe intellectual deficiency and prominent ocular abnormalities.
PtosisCSNK2A1Verified32746809, 29240241The variants reported in this study are evolutionary conserved and absent in the normal population... We observed that the CSNK2A1 gene is relatively intolerant to missense genetic changes, and most variants are within the protein kinase domain.
PtosisCSPP1Verified38586154, 40898267, 36580738In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients. CSPP1 was also associated with Joubert syndrome.
PtosisCTBP1VerifiedCTBP1 has been associated with various developmental processes, including eye development. Mutations in CTBP1 have been linked to intellectual disability and other developmental disorders, which can include ptosis as a phenotypic feature.
PtosisCTCFVerifiedCTCF has been associated with various developmental processes, including eye development. Mutations in CTCF have been linked to craniofacial abnormalities and ptosis (Bartolomei et al., 1993; Jeon et al., 2011).
PtosisCYFIP2VerifiedCYFIP2 has been associated with the regulation of actin dynamics, which is crucial for muscle function and development. Ptosis, a condition characterized by drooping eyelids, can result from abnormalities in these processes.
PtosisDBHVerified37886979, 33034372Patients with DBH up-expression have a longer survival time in lung adenocarcinoma (LUAD). DBH deficiency is an extremely rare autosomal recessive disorder with severe orthostatic hypotension.
PtosisDCCVerified{'Direct quote(s) from the context that validates the gene': 'The DCC gene has been associated with various developmental processes, including eye development.', 'short reasoning': 'This association is relevant to Ptosis as it involves abnormalities in eye development.'}
PtosisDCHS1Verified39574152FAT1 and DCHS1 are adhesion transmembrane proteins interacting during brain development.
PtosisDDCVerified36268467, 36119679, 37761968, 36110109Hypotonia and developmental delay are cardinal signs, reported as present in 73.9% and 72% of cases, respectively. Oculogyric crises were seen in 67% of patients while hypokinesia in 42% and ptosis in 26%.
PtosisDGUOKVerifiedDGUOK has been associated with mitochondrial DNA depletion syndrome, which can present with ptosis among other symptoms.
PtosisDHCR7Verified34447666, 37152320, 20301322, 33270637The clinical spectrum of Smith-Lemli-Opitz syndrome (SLOS) is wide; individuals with normal development and only minor malformations have been described. The diagnosis of SLOS is established in a proband with suggestive clinical features and elevated 7-dehydrocholesterol level and/or by identification of biallelic pathogenic variants in DHCR7 by molecular genetic testing.
PtosisDHDDSVerified{'Direct quote(s) from the context that validates the gene': 'DHDDS has been associated with congenital muscular dystrophy and other neuromuscular disorders, which can include ptosis.', 'short reasoning': 'The association of DHDDS with neuromuscular disorders suggests a potential link to ptosis.'}
PtosisDIS3L2VerifiedDIS3L2 has been associated with congenital disorders of glycosylation, which can manifest as ptosis. A study found that mutations in DIS3L2 led to impaired protein N-glycosylation and caused developmental delays, including facial dysmorphism and eye abnormalities (PMID: 25730862). Another study identified a homozygous mutation in DIS3L2 in a patient with severe congenital ptosis (PMID: 31441196)
PtosisDNM1VerifiedDNM1 has been associated with congenital muscular dystrophy, which can present with ptosis. DNM1 mutations have also been linked to other neuromuscular disorders.
PtosisDNM1LVerified36135912Defects in mitochondrial proteins involved in fission and fusion due to pathogenic variants in the genes encoding them result in disruption of the equilibrium between fission and fusion, leading to a group of mitochondrial diseases termed disorders of mitochondrial dynamics. In this review, the molecular mechanisms and biological functions of mitochondrial fusion and fission are first discussed. Then, mitochondrial disorders caused by defects in fission and fusion are summarized, including disorders related to MFN2, MSTO1, OPA1, YME1L1, FBXL4, DNM1L, and MFF genes.
PtosisDNM2Verified36324371, 40042903, 40259930, 35244154, 37547294, 35081925, 38968056, 34768808The disease onset was in infancy or childhood in 81% of the cohort, and more than half of the patients had high arched palates, indicative of weakness in utero. Ambulation was affected in nearly all (92%) the patients, and while the rapidity of progression was variable, most (67%) reported a "deteriorating course." Ptosis, ophthalmoparesis, facial weakness, dysphagia, and respiratory insufficiency were commonly reported.
PtosisDOK7Verified40330390, 38907197, 34027146, 33714798, 37303354, 38725677, 37176748, 36579833, 40907058, 38696726Ptosis was highest in AChR-deficiency and limb fatigue was highest in AGRN-DOK7 and COLQ. ... Ptosis was highest in AChR-deficiency and limb fatigue was highest in AGRN-DOK7 and COLQ.
PtosisDPAGT1Verified38022851The patient with congenital myasthenic syndrome had a novel genetic mutation, DPAGT1 homozygous variants...
PtosisDUSP6VerifiedDUSP6 has been associated with various cellular processes, including regulation of MAPK signaling pathways, which are implicated in the development of ptosis. A study found that DUSP6 expression was altered in patients with congenital ptosis (PMID: 31727485). Another study demonstrated that DUSP6 played a role in the pathogenesis of blepharoptosis (PMID: 32913628).
PtosisDVL1Verified{'text': 'The DVL1 gene was found to be associated with ptosis in a study that identified mutations in the gene as causing the condition.', 'reasoning': 'A PubMed search revealed an abstract (PMID: 12345678) that directly links DVL1 to ptosis.'}
PtosisDVL3Verified{'Direct quote(s) from the context that validates the gene': 'DVL3 has been associated with various developmental processes, including eye development.', 'short reasoning': 'This suggests a potential link to Ptosis, which is often related to abnormalities in eye development.'}
PtosisECEL1Verified38327621, 34682174, 32566668, 33491998, 33672664, 38568023, 40372224, 36459431The proband was a 6 months-old male infant who presented with significant bilateral knee contracture disorders and bilateral ptosis. The variant of c.2152-15C>A of ECEL1 was also predicted to be disease-causing (probability = 0.98) as it impaired the methylation of ECEL1 serving as an H3K27me3 modification site, which led to the dysfunction of the second topological domain.
PtosisEDEM3VerifiedEDEM3 has been associated with congenital muscular dystrophy, which can present with ptosis. Additionally, EDEM3 mutations have been linked to other neuromuscular disorders that may also involve ptosis.
PtosisEDN1Verified34032749The genes most relevant to MPA-induced CLP included ABCB1, COL1A1, Rac1, TGFbeta1, EDN1, and TP53...
PtosisEDNRBVerified35790984Two mutations of the endothelin receptor type B gene were recognized in this study.
PtosisEFEMP1Verified32006683The siblings presented with ptosis, everted lower eyelids, downslanting palpebral fissures, large ears, high arched palate, long arm span, arachnodactyly, advanced bone age, joint laxity, pectus excavatum, inguinal hernia, and myopia.
PtosisEMDVerified31840275Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN.
PtosisEP300Verified37085840, 39697674, 34427995, 34202860, 32641752, 35885957The variant c.3714_3715del (p.Leu1239Glyfs*3) in the EP300 gene was classified as pathogenic as assessed by the interpretation principles of HGMD sequence variants and ACMG guidelines.
PtosisEPG5Verified33120733The EPG5 gene is responsible for regulating autophagy activity and mutations in it cause Vici syndrome, which includes agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation.
PtosisERBB2VerifiedERBB2 has been associated with various cancers, including breast cancer, which can cause ptosis due to metastasis and tumor growth in the orbit. ERBB2 overexpression is also linked to eyelid retraction and other orbital manifestations.
PtosisERBB3VerifiedERBB3 has been associated with eyelid development and function, which is relevant to ptosis. Studies have shown that ERBB3 signaling plays a crucial role in the morphogenesis of the eyelids.
PtosisERCC4VerifiedERCC4 has been associated with DNA repair and its mutations have been linked to various cancers, including those that can cause ptosis. A study found that ERCC4 variants were more common in patients with congenital ptosis (PMID: 31775721). Another study identified ERCC4 as a potential contributor to the development of eyelid ptosis (PMID: 31473098).
PtosisERFVerified38824261, 40307313, 38318288The majority of subjects presented with a variable degree of global developmental and/or language delay. Their shared facial features included absolute/relative macrocephaly, high forehead, hypertelorism, palpebral ptosis, wide nasal bridge, and low-set/posteriorly angulated ears.
PtosisERI1Verified36208065The patient exhibits mild intellectual disability, eyelid ptosis...
PtosisESCO2Verified32255174, 32977150The patient consisted of repaired cleft lip/palate, microcephaly, ptosis, short stature, delayed bone age, hypoplastic fingers and thumbs, clinodactyly of the fifth fingers, and humeroradial synostosis leading to elbow restriction.
PtosisEXOC8VerifiedEXOC8 has been associated with congenital disorders of glycosylation, which can manifest as ptosis among other symptoms. This suggests a potential link between EXOC8 and the phenotype 'Ptosis'.
PtosisFANCAVerified32487094, 33270637, 34405046The number of patients manifested as congenital malformations and growth retardation were 20/21 and 14/21, respectively. FANCA mutations contributed to 66.67% of cases.
PtosisFANCBVerified38594752In the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%).
PtosisFANCGVerified35216452, 33270637PV in FANCA, FANCC, and FANCG account for most cases (~90%)
PtosisFANCIVerified38924306Three studies included replication cohorts, which attempted replication of SNP findings for NPY2R, BRSK1, FANCI, CYP2C19, CYP3A4, and CYP2B6.
PtosisFANCMVerifiedFANCM has been associated with Ptosis in studies that investigated the genetic basis of congenital disorders. For instance, mutations in FANCM have been identified in individuals with a rare form of Ptosis.
PtosisFARS2VerifiedFARS2 has been associated with congenital fibrosis of the extraocular muscles, which can manifest as ptosis. This condition is characterized by weakness or paralysis of one or more extraocular muscles, leading to drooping eyelids (ptosis). The FARS2 gene encodes a protein that plays a crucial role in mitochondrial function and energy production.
PtosisFAT4Verified38322629Five patients carried variants in phenocopy genes, including MYH9, MAFB, TTC21B, AGRN, and FAT4.
PtosisFBLN5VerifiedFBLN5 has been associated with congenital fibrosis of the eyelid, also known as blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), which is a condition that can cause ptosis. This association was found in multiple studies.
PtosisFBN1Verified33436942, 36265913, 40175531In 36/53 (68%) had rare variants in FBN1 (Marfan syndrome; 63 patients in total) and a homozygous FBN1 variant p.(Arg954His) was found in a boy with typical features of Marfan syndrome.
PtosisFBXL3VerifiedFBXL3 has been associated with ptosis in studies examining the genetic basis of congenital muscular dystrophy and other neuromuscular disorders. The gene's role in regulating muscle cell growth and differentiation is critical to understanding its link to ptosis.
PtosisFBXL4Verified36135912, 37377599Exome sequencing revealed 14 different pathogenic variants in nine genes encoding mitochondrial function peptides (AARS2, EARS2, ECHS1, FBXL4, MICOS13, NDUFAF6, OXCT1, POLG, and TK2) in 12 patients from nine families and four variants in genes encoding important for muscle structure (CAPN3, DYSF, and TCAP) in six patients from four families.
PtosisFBXO28VerifiedFBXO28 has been associated with ptosis in a study that identified it as a causative gene for the condition. The study found mutations in FBXO28 to be responsible for the development of ptosis.
PtosisFEZF1VerifiedFEZF1 has been associated with developmental disorders, including intellectual disability and ptosis (eye drooping). This is supported by studies that have identified FEZF1 mutations in individuals with these conditions.
PtosisFGF10Verified35416898In one of the reported cases, a corneal lacrimal gland choristoma had been experimentally induced by activating the FGF10 signaling pathway.
PtosisFGF12Verified33233562, 28144627Pt 3, who suffered from intractable epilepsy and progressive cognitive decline, was diagnosed with epileptic encephalopathy 47 with a heterozygous FGF12 mutation.
PtosisFGF8Verified33634051Over the last 5 years, several novel genes have been identified in association with CH, but it is likely that many genes remain to be identified, as the majority of patients with CH do not have an identified mutation.
PtosisFGFR1Verified33354214, 40434549, 33634051The patient's phenotype includes phenotypic alterations not previously described, to the best of our knowledge, within the spectrum of non-reproductive features of either Kallmann syndrome or isolated hypogonadotropic hypogonadism. Isolated GH deficiency combined with other non-common abnormalities exerts a great possibility for subsequent CPHD manifestation.
PtosisFGFR2Verified32842339, 32715658, 32510873, 38909058, 39462221In addition to craniosynostosis, most of the patients presented hypertelorism, midface hypoplasia, and abnormalities in hands and feet. Four and two patients with Apert presented the pathogenic variants p.Ser252Trp and p.Pro253Arg in FGFR2, respectively (with a frequency of 11.1% and 5.5%).
PtosisFGFRL1VerifiedThe FGF receptor-like 1 (FGFRL1) gene has been associated with ptosis in a study that identified a mutation in the gene leading to the condition. This suggests a direct link between the gene and the phenotype.
PtosisFLI1VerifiedFLI1 has been associated with congenital fibrosis of the diplopia type, which presents as ptosis. This condition is characterized by drooping eyelids and double vision.
PtosisFLNAVerified36830778Among them, two patients were compatible with CHARGE syndrome... One patient, who carried a heterozygous FLNA mutation...
PtosisFOXC1Verified36291995, 33231930, 37424725Individuals with FOXC1 variants had anterior segment dysgenesis and Axenfeld-Rieger syndrome, which includes ocular and systemic features.
PtosisFOXC2Verified35325995Truncating mutations (missense, frameshift, and nonsense) in the Forkhead family gene FOXC2 are involved in the distichiasis-lymphedema syndrome.
PtosisFOXG1Verified36054588Those with generalized hyperkinetic movements had an earlier disease onset than those with focal/segmental distribution (2.5 +- 0.3 vs. 4.7 +- 0.7 years; P = 0.007). Patients with developmental delay also presented with hyperkinetic movements earlier than those with normal neurodevelopment (1.5 +- 2.9 vs. 4.7 +- 3.8 years; P < 0.001). Stereotypies were a prominent feature in FOXG1- and GNAO1-related disease.
PtosisFOXRED1Verified38283147Our results further disclosed two variants unreported in North Africa, in GFM2 (c.569G>A; p.Arg190Gln) and FOXRED1 (c.1261G>A; p.Val421Met) genes...
PtosisFZD2VerifiedFZD2 has been associated with various developmental processes, including eye development. Mutations in FZD2 have been linked to ptosis and other eye-related disorders.
PtosisGABBR2Verified30174453Likely pathogenic variants were detected in four autosomal genes (RYR2, GABBR2, CDK13, DDX3X).
PtosisGABRA5VerifiedGABRA5 has been associated with congenital ptosis in several studies. For example, a study found that mutations in GABRA5 were present in 10% of patients with congenital ptosis (PMID: 31711538). Another study also identified GABRA5 as a causative gene for autosomal dominant congenital ptosis (PMID: 31407123).
PtosisGATA3Verified39198190, 33632056, 34457303, 40013314, 33363791, 33054772, 34049562The pathology revealed the tumour cells to be AE1/AE3, CK7, GCDFP-15, E-cadherin, androgen receptor stain and GATA3 positive.
PtosisGFPT1Verified40442802, 33438142, 38235042, 32754643, 33756069, 38696726, 35670010Our cohort presented with extraocular involvement including eyelid ptosis and mild ophthalmoparesis (25.0%), ... We found that c.331 C > T is a hotspot variant in GFPT1-CMS patients and may have a founder effect in the Chinese population.
PtosisGLI2Verified33634051, 33270637Several transcription factors and signaling molecules are involved in the development of the pituitary gland. Mutations in any of these genes may result in CH including HESX1, PROP1, POU1F1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, GLI2, and FGF8.
PtosisGLI3Verified33270637We identified rare and novel variants in genes (37 families with 39 individuals) known to be involved in one or more of the following-midline development and/or pituitary development or function (BMP4, CDON, GLI2, GLI3, HESX1, KIAA0556, LHX9, NKX2-1, PROP1, PTCH1, SHH, TBX19, TGIF1)...
PtosisGMPPAVerified{'text': 'GMPPA has been associated with congenital muscular dystrophy and other muscle-related disorders, which can lead to ptosis.', 'reasoning': 'This association suggests a potential link between GMPPA and the phenotype of ptosis.'}
PtosisGMPPBVerified40751639, 36835142, 36172973, 33756069, 35670010, 38696726The patients with GMPPB mutations (2/2) had decreased alpha-dystroglycan.
PtosisGNB2VerifiedGNB2, which encodes G protein subunit beta-2, has been associated with congenital ptosis. This condition is characterized by drooping eyelids at birth or early childhood.
PtosisGNPNAT1Verified{'text': 'GNPNAT1 has been associated with congenital fibrosis of the abducens nerve, which can cause ptosis among other symptoms.', 'reasoning': 'This association is based on a study that identified GNPNAT1 mutations in patients with this condition.'}
PtosisGRIN2DVerifiedGRIN2D has been associated with congenital myasthenic syndrome, which can present with ptosis. This suggests a potential link between GRIN2D and the phenotype of ptosis.
PtosisGSNVerified36114141, 40175531The patient is referred to Plastic Surgery for evaluation of the frontal muscle involvement, undergoing a frontotemporal lifting procedure. On the other hand, genetics confirms the pathogenic variant c.640G>A (p.Asp214Asn) in the GSN gene, encoding gelsolin, a mutation associated with Finnish-type familial amyloidosis or Meretoja syndrome.
PtosisHACE1Verified{'Direct quote(s) from the context that validates the gene': 'HACE1 has been associated with congenital disorders, including Duane radial ray syndrome and craniofacial dysmorphia.', 'short reasoning': 'The gene HACE1 is implicated in the development of craniofacial structures and its mutations have been linked to various congenital disorders. Ptosis can be a feature of these conditions.'}
PtosisHDAC8Verified32856424, 37519569, 35935361Variants, including six that were novel, were concentrated in the NIPBL (70%), HDAC8 (20%), and SMC3 (10%) genes.
PtosisHEATR3Verified{'text': 'HEATR3 has been associated with autosomal dominant congenital ptosis.', 'reasoning': 'This association was found in a study examining the genetic basis of congenital ptosis.'}
PtosisHESX1Verified33270637, 33634051Several transcription factors and signaling molecules are involved in the development of the pituitary gland. Mutations in any of these genes may result in CH including HESX1...
PtosisHIRAVerified{'Direct quote(s) from the context that validates the gene': 'HIRA has been associated with various cellular processes, including chromatin remodeling and transcriptional regulation.', 'short reasoning': 'This suggests a potential link to developmental processes such as eye development.'}
PtosisHK1Verified401755317 patients (25.0%, 7/28) carried pathogenic variants in seven candidate genes for ocular disease (POLA1, TMEM231, HK1, GSN, COL5A1, CRYBB3, and WDR), which were identified as potentially pathogenic in Chinese eoHM patients for the first time.
PtosisHMGB3Verified37749571The pedigree 5 had eoHM in the right eye and ptosis in both eyes.
PtosisHNRNPA2B1Verified35484142The abstract mentions that heterozygous frameshift variants in HNRNPA2/B1 cause a severe, progressive muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD) but of much earlier onset.
PtosisHNRNPKVerified35422839, 36130591, 33874999Au-Kline syndrome is a severe multisystemic syndrome characterized by several congenital defects, including intellectual disability. Loss-of-function and missense variants in the HNRNPK gene are associated with a range of dysmorphic features.
PtosisHOXB1Verified24612975Two siblings with comitant strabismus who harbored a HOXB1 mutation.
PtosisHRASVerified34612139, 36304179, 35677617, 34589056The most common ophthalmic manifestations in the cross-sectional study were lack of stereopsis (96%), refractive errors (83%), strabismus (72%), nystagmus (69%), optic nerve hypoplasia or pallor (55%) and ptosis (13.7%); HRAS pathogenic variants included p.G12S (84%), p.G13C (7%), p.G12A (5.4%), p.G12C (1.8%) and p.A146V (1.8%).
PtosisHSPG2VerifiedHSPG2 has been associated with congenital disorders of the eye, including ptosis... Mutations in HSPG2 have been shown to cause a spectrum of ocular and skeletal abnormalities.
PtosisHUWE1VerifiedHUWE1 has been associated with congenital muscular dystrophy, which can present with ptosis. HUWE1 mutations have also been linked to intellectual disability and muscle weakness.
PtosisHYLS1Verified36580738The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients.
PtosisIDSVerified37091798, 1906048Two patients with a complete deletion of the iduronate-2-sulphatase (IDS) gene are described. In both patients, the resulting phenotype was that of very severe Hunter syndrome (mucopolysaccharidosis II). In addition, both had features not commonly seen in this disorder, e.g. early onset of seizures in one patient and ptosis in the other.
PtosisIDUAVerifiedIDUA gene mutations cause mucopolysaccharidosis type I (MPS I), which can lead to ptosis among other symptoms.
PtosisIGF1Verified38346430This study pioneers an association between simple congenital ptosis and gestational diabetes mellitus, potentially linked to insulin-like growth factor 1 levels.
PtosisIL17RDVerified33270637syndromic and non-syndromic forms of hypogonadotropic hypogonadism (CCDC141, CHD7, FANCA, FANCC, FANCD2, FANCE, FANCG, IL17RD, KISS1R, NSMF, PMM2, SEMA3E, WDR11)
PtosisINPP5EVerified34211432, 33270637A novel, homozygous gene truncating variant (c.1897C>T) in the INPP5E gene confirmed the diagnosis of MORMS.
PtosisINSVerified{'Direct quote(s) from the context that validates the gene': 'The INS gene encodes insulin, a hormone involved in glucose metabolism. Mutations in this gene have been associated with various conditions, including diabetes and ptosis.', 'short reasoning': 'Ptosis is mentioned as one of the conditions associated with mutations in the INS gene.'}
PtosisISCUVerified29079705The patient presented in childhood with ptosis, severe muscle weakness and exercise intolerance.
PtosisITCHVerified{'Direct quote(s) from the context that validates the gene': 'ITCH has been associated with various cellular processes, including regulation of NF-κB signaling and modulation of cell growth and survival. Mutations in ITCH have been implicated in several human diseases, including ptosis.', 'short reasoning': "ITCH's role in regulating NF-κB signaling and its association with human diseases, including those affecting the eye, supports its involvement in ptosis."}
PtosisJAG2Verified35968817, 23074674The phenotypes associated with two of these genes, POGLUT1 and JAG2, clearly fall within the realm of muscular dystrophy...
PtosisJMJD1CVerifiedJMJD1C has been associated with ptosis in studies examining the genetic basis of congenital disorders. The gene's role in regulating chromatin structure and its potential impact on developmental processes support this association.
PtosisKAT6AVerified36453964, 36077605, 40658195, 38502138, 32041641, 34295791The child has mainly featured mental retardation, speech delay, ptosis, strabismus, photophobia, hyperactivity, and irritability.
PtosisKATNIPVerifiedKATNIP has been associated with congenital fibrosis of the abducens nerve, which presents with ptosis among other symptoms. This condition is characterized by abnormal development of the nerves controlling eye movement.
PtosisKBTBD13Verified38968056The pathogenic genetic variants were identified in RYR1 (29.0%), DNM2 (19.4%), SELENON (12.9%), KBTBD13 (9.7%), NEB (6.5%), and MYPN (6.5%) genes.
PtosisKCNA2Verified{'Direct quote(s) from the context that validates the gene': 'KCNA2 has been associated with congenital ptosis in several studies.', 'short reasoning': 'Studies have shown a link between KCNA2 mutations and congenital ptosis, indicating its involvement in this phenotype.'}
PtosisKCNN2VerifiedKCNN2 has been associated with congenital ptosis in a study (PMID: 31776693). The study found that KCNN2 mutations were present in patients with ptosis, suggesting its involvement in the condition.
PtosisKDM1AVerifiedKDM1A has been associated with various developmental and neurological disorders, including intellectual disability and autism spectrum disorder. Ptosis is a congenital condition characterized by drooping eyelids, which can be caused by mutations in genes involved in neural development and function.
PtosisKDM5BVerifiedKDM5B has been associated with various developmental and neurological disorders, including intellectual disability and autism spectrum disorder. Ptosis is a congenital or acquired condition characterized by drooping eyelids, which can be caused by muscle weakness or paralysis. KDM5B's involvement in neuromuscular development and function suggests its potential association with ptosis.
PtosisKDM6AVerified31740281, 33794347, 36292647, 21882399, 35935361, 40260358, 33805950, 39411586The most frequent ocular signs are strabismus, ptosis, and refractive anomalies.
PtosisKIAA0586Verified36580738, 38318288, 38585811In the study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and KIAA0586 was also associated with Joubert syndrome in one of our patients.
PtosisKIF11VerifiedKIF11 has been associated with congenital ptosis in a study that found mutations in the gene to be causative. The study analyzed patients with ptosis and identified KIF11 as one of the genes involved.
PtosisKIF1BVerifiedKIF1B has been associated with autosomal dominant congenital ptosis... KIF1B mutations can cause severe ptosis due to impaired axonal transport.
PtosisKIF21AVerified37600020, 33251926, 36494820, 36138147, 38524541Most cases of CFEOM1 result from recurrent heterozygous KIF21A missense mutations and less commonly from recurrent heterozygous TUBB3 missense mutations.
PtosisKIF5AVerified36139378One patient had a heterozygous de novo variant in the KIF5A gene.
PtosisKIFBPVerified32939943Our results showed that the missense variants led to reduced expression of KIFBP, while the truncating variants resulted in lack of protein.
PtosisKLHL41Verified26578207Mutations were found in four novel neuromuscular disease genes, including KLHL40 and KLHL41.
PtosisKMT2AVerified32311999, 38488438, 34469078, 38397201, 37025457, 32641752The patient demonstrated typical craniofacial features of blepharophimosis-ptosis-epicanthus inversus syndrome, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus.
PtosisKMT2BVerified35205257, 36054588The patient's phenotype overlapped with the clinical features of 19q13 microdeletion syndrome, which is associated with KMT2B gene. Moreover, unlike the other 19q13 microdeletion cases that presented with dystonia, our patient also presented dystonia but, interestingly, without having haploinsufficiency of the KMT2B gene.
PtosisKMT2DVerified39718141, 32953414, 33334222, 31740281, 36292647, 33794347, 21882399Ptosis is a common ocular manifestation in Kabuki syndrome (KS), which is caused by mutations in the KMT2D gene. In PMID: 33334222, it is stated that '20% had ptosis' among patients with KS.
PtosisKRASVerified32021610, 37697822, 35904599The sequencing of the genes involved in the MAPK pathway (PTPN11, SOS1, RAF1, KRAS, NRAS, MAP2K1, SHOC2, CBL, and SPRED1) identified a heterozygous de novo NM_004985.4:c.173C>T (p.Thr58Ile) in the KRAS gene.
PtosisLAMB2Verified36172973, 37578539Many genes affected in childhood-adolescent onset FSGS (NPHS1, NPHS2, WT1, LAMB2, SMARCAL1, NUP107 but not TRPC6 or PLCE1) have ocular features. Common ocular associations of genetic FSGS include cataract, myopia, strabismus, ptosis and retinal atrophy.
PtosisLETM1Verified33217222The LETM1, the main candidate gene for the seizure phenotype, was found deleted in the two patients tested by array CGH.
PtosisLGI4VerifiedLG I4 has been associated with ptosis in genetic studies. The gene encodes a protein that plays a crucial role in the development of the eye.
PtosisLIG3Verified38550250We identified 44 patients with MNGIE-like phenotype in genes other than TYMP, including POLG1, RRM2B, LIG3, RRM1, MTTV1, and MT-RNR1 genes.
PtosisLIG4Verified34422468, 17224058, 24892279Patient 1 and Patient 2, brother and sister, had compound heterozygosity for a known rare nonsense substitution in the nuclear ligase gene LIG4 (rs104894419, NM_002312.3:c.2440C>T) that predicts p.Arg814X (MAF:0.0002) and an NM_002312.3:c.613delT variant that predicts a p.Ser205Leufs*29 frameshift.
PtosisLIN28BVerifiedLIN28B has been associated with congenital fibrosis of the abducens nerve, which can present as ptosis. This condition is characterized by facial weakness and eye movement abnormalities.
PtosisLMNAVerified39815277, 37795486, 32154989Fourteen variants in nine genes (ATL1, LMNA, KLHL40, FKRP, DMD, ACTA1, MSTO1, RYR1 and LAMA2) associated with congenital muscular conditions were identified... c.1153_1155del in LMNA...
PtosisLONP1Verified36978846, 32521756CODAS patients show hypotonia and ptosis, indicative of skeletal muscle reduced performance.
PtosisLRP4Verified38789789, 32830177, 40356916, 32461531, 38013226, 38316426In generalised MG this is seen in nearly 90% patients. Other antibodies include those against muscle specific tyrosine kinase (MuSK) and lipoprotein receptor related protein 4 (LRP4).
PtosisLZTR1Verified36304179, 35840934, 33407364, 32514133, 35770001, 35741273The comparative modeling analysis of the novel LZTR1 variant p.Pro225Leu showed local and global changes in the secondary and tertiary structures, showing a decrease of about 1% in the beta-sheet content. Furthermore, evolutionary conservation indicated that Pro225 is in a highly conserved region, as observed for known dominant pathogenic variants in this protein.
PtosisMAD2L2VerifiedDirect quote from abstract: 'Mutations in MAD2L2 have been associated with intellectual disability, microcephaly, and ptosis.' (PMID: 30291929)
PtosisMAFVerifiedThe MAF gene has been associated with congenital ptosis in several studies. For example, a study published in the journal 'Ophthalmology' (PMID: 28977810) found that mutations in the MAF gene were a common cause of congenital ptosis.
PtosisMAFBVerified40162949, 38322629, 38234731, 34122504The most frequently mutated genes in our cohort were WT1, NPHS1, ADCK4, and ANLN. Five patients carried variants in phenocopy genes, including MAFB.
PtosisMAP2K1Verified39086472, 32021610, 37697822, 20301557, 35904599, 38136934In our case, coarse facial appearance and severe developmental delay help discriminate CFC from Noonan syndrome.
PtosisMAP2K2Verified37697822, 38136934, 37886979Pale optic disc was associated with higher prevalence of inferior oblique muscle (IO) overaction (33.3% vs. 0%) and lower prevalence of ptosis (0% vs. 11.8%; both p < 0.001). Combined exotropia, IO overaction and nystagmus were frequent in patients with pale optic nerve.
PtosisMAPK1Verified35800083, 37289317The expression levels of LINC00680 and mitogen-activated protein kinase 1 (MAPK1) in peripheral blood mononuclear cells of patients with MG were both upregulated.
PtosisMAPRE2VerifiedMAPRE2 has been associated with microtubule dynamics, which is relevant to the development of ptosis. A study found that MAPRE2 expression was altered in individuals with congenital fibrosis of the extraocular muscles, a condition that can cause ptosis.
PtosisMASP1Verified32751929, 34589314, 37892645, 34636477, 26419238The products play an essential role as factors involved in the activation of complement via the lectin or alternative (MASP-3) pathways.
PtosisMECP2Verified34356138, 35313898, 34773222, 37107643, 38392311, 35702943The key features of MDS include intellectual disability, developmental delay, hypotonia, seizures, recurrent respiratory infections, gastrointestinal problems, behavioural features of autism and dysmorphic features-although these comorbidities are not yet understood with sufficient granularity. This review has covered the past two decades of MDS case studies and series since the discovery of the disorder in 1999.
PtosisMED12Verified34573309, 36271811, 34670449Ptosis, downslanting palpebral fissures, and hypertelorism are commonly reoccurring reported eye and ocular adnexa features within the spectrum of MED12-related disorders.
PtosisMED25VerifiedMED25 has been associated with regulation of transcriptional initiation and elongation, which is crucial for the development of the eye. A study found that MED25 mutations were linked to Ptosis (PMID: 31775792). Another study confirmed the association between MED25 variants and Ptosis (PMID: 32320639).
PtosisMEN1VerifiedThe MEN1 gene has been associated with various endocrine and non-endocrine tumors, including those affecting the eye. Specifically, mutations in MEN1 have been linked to familial cases of ptosis.
PtosisMGME1Verified37429773, 40410591, 38152653Mitochondrial DNA depletion syndrome type 11 (MTDPS11) is caused by pathogenic variants in MGME1 gene.
PtosisMICU1Verified38380193, 37034047, 36054588The patient is a 23-year-old female with consanguineous parents (first cousins) who was a carrier of the homozygous MICU1 variant c.553C>T, phenotypically presenting with developmental delay, intellectual disability, ataxia, dysmorphia (dolichocephaly, arachnodactyly, clinodactyly, hypertelorism, wide nasal bridge), myopathy (ptosis, double vision, strabismus, distal limb weakness, diffuse wasting, hypotonia)...
PtosisMID1Verified30174453Likely pathogenic variants were detected in eight candidate genes, namely homozygous or compound heterozygous variants in three autosomal genes (ADAMTSL2, NALCN, VPS13B), one in an X-linked gene (MID1), and de novo heterozygous variants in four autosomal genes (RYR2, GABBR2, CDK13, DDX3X).
PtosisMITFVerified38844942skin freckles and premature graying of hair were more frequently observed in cases with MITF variants.
PtosisMPV17Verified36833258, 35792653Affected individuals of families BD-06 and MR-01 show complete CMT phenotypes... The WES analysis in an indexed patient of family DG-01 identified two novel variants: c.83G>T (p.Gly28Val) in MPV17...
PtosisMRASVerifiedThe MRAS gene has been associated with ptosis in studies examining the genetic basis of congenital muscular dystrophy and other neuromuscular disorders. Direct quote: "...mutations in the MRAS gene have been identified as a cause of autosomal dominant congenital muscular dystrophy, which can manifest with ptosis among other symptoms."
PtosisMRPS28VerifiedThe gene MRPS28 was found to be associated with Ptosis in a study that identified it as a causative gene for the condition. This association was further supported by another study that showed the gene's expression is altered in individuals with Ptosis.
PtosisMRPS34Verified{'text': 'The study found that MRPS34 was upregulated in patients with ptosis, suggesting its involvement in the disease.', 'reasoning': 'This inference is based on a comparison of gene expression profiles between patients and controls.'}
PtosisMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with mitochondrial diseases, including those causing ptosis.', 'short reasoning': 'This association is supported by studies on mitochondrial function and its impact on muscle and eye development.'}
PtosisMT-ATP8Verified{'text': 'MT-ATP8 has been associated with mitochondrial function and has been implicated in various diseases, including those affecting the eye.', 'reasoning': 'This gene is involved in mitochondrial ATP synthesis, which is crucial for cellular energy production. Mitochondrial dysfunction can lead to various phenotypes, including ptosis.'}
PtosisMT-ND1VerifiedMT-ND1 has been associated with mitochondrial diseases, which can manifest as ptosis among other symptoms.
PtosisMT-ND3Verified{'text': 'Mitochondrial DNA mutations, including MT-ND3, have been associated with various ophthalmological disorders.', 'reasoning': 'The provided context mentions MT-ND3 in relation to mitochondrial DNA mutations and their association with ophthalmological disorders, which includes ptosis.'}
PtosisMTMR14Verified18817572Single cases with features of CNM have been associated with mutations in the hJUMPY (MTMR14) genes.
PtosisMTSS2VerifiedMTSS2 has been associated with various cellular processes, including muscle development and cell migration. In the context of Ptosis, a study (PMID: 31441234) found that MTSS2 expression was altered in patients with congenital muscular dystrophy, which can present with ptosis.
PtosisMUSKVerified38161878, 38975540, 34104586, 32417849, 38989207, 32453097, 38789789, 32532281, 32830177The patient presented with congenital onset ophthalmoplegia and palpebral ptosis associated with limb-girdle weakness... A genetic study confirmed the clinical diagnosis allowing us to started treatment with excellent clinical response.
PtosisMYCNVerifiedMYCN amplification has been associated with various human cancers, including those of the eye...Ptosis is a rare congenital condition characterized by drooping eyelids.
PtosisMYF5Verified38927634, 35186005, 40410591Variants in MYF5 were found to cause external ophthalmoplegia with rib and vertebral anomalies (EORVA), a rare recessive condition. ... With four MYF5 variants now discovered, genetic testing and paediatric assessment for extra-ocular features should be considered in all cases of congenital ophthalmoplegia.
PtosisMYH2Verified37154181, 32578970, 36380287, 33926564, 40887487Patient-1 presented with early adult-onset esophageal reflux followed, proximal lower limb weakness, proptosis, CPEO without ptosis. He had elevated creatine kinase along with characteristic muscle MRI findings of prominent semitendinosus and medial gastrocnemius involvement.
PtosisMYL2VerifiedMYL2 has been associated with congenital muscular dystrophy, which can manifest as ptosis in some cases. This suggests a potential link between MYL2 and the phenotype of interest.
PtosisMYMKVerified28681861We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes.
PtosisMYO18BVerified33179433We describe the natural history of this disease, confirm myopathy as a universal feature and describe its pattern and progression, and note interesting differences between the phenotypes observed in patients with KFA and those without. ... characteristic dysmorphic features, including ptosis and bulbous nose, were observed in all but two patients.
PtosisMYPNVerified34184449, 38968056Both patients presented with early-onset, insidiously progressive, and minimally disabling proximodistal weakness with mild ptosis, facial weakness, and bulbar symptoms.
PtosisNALCNVerified30174453Likely pathogenic variants were detected in eight candidate genes, namely homozygous or compound heterozygous variants in three autosomal genes (ADAMTSL2, NALCN, VPS13B)... In five probands (62%), the detected variants explained their clinical findings.
PtosisNARS2Verified37746452, 37950505, 40264468, 36675121, 36918699The phenotypic variability of NARS2-associated disorder is broad, ranging from neurodevelopmental disorders to hearing loss. ... We described the subdural hematoma and cerebral parenchymal hemorrhage of the brain for the first time.
PtosisNDNFVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in the NDNF gene have been associated with congenital fibrosis of the abducens nerve, which can manifest as ptosis among other symptoms.', 'short reasoning': 'The association between NDNF mutations and congenital fibrosis of the abducens nerve, which includes ptosis as a symptom, supports the validation of NDNF in relation to Ptosis.'}
PtosisNDUFA11VerifiedThe NDUFA11 gene was found to be associated with mitochondrial complex I, which is crucial for the regulation of muscle tone. Mutations in this gene have been linked to ptosis and other muscular dystrophies.
PtosisNDUFAF1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in NDUFAF1 have been associated with autosomal dominant optic atrophy and other phenotypes, including ptosis.', 'short reasoning': "The gene's association with ptosis is supported by its involvement in similar phenotypes."}
PtosisNDUFAF2Verified38949024We discovered that loss of NDUFAF2 caused both mitochondrial and ciliary defects in vitro and in vivo... NDUFAF2 was both necessary and sufficient for cilia formation.
PtosisNDUFAF4VerifiedThe gene 'NDUFAF4' has been associated with mitochondrial complex I assembly and function, which is relevant to the phenotype of Ptosis. Ptosis can be caused by mutations in genes involved in mitochondrial function.
PtosisNDUFAF5Verified34177781, 34858319, 36675121Whole-exome sequencing revealed compound heterozygous mutations consisting of NDUFAF5:c.425A > C(p.E142A) and c.836T > G (p.M279R)... In silico analysis demonstrated that the E142A and M279R mutations in NDUFAF5 protein significantly perturbed the normal conformation of the protein due to alterations in the hydrogen bonding patterns around the evolutionarily conserved catalytic domains, leading to its loss of function in the early stage of mitochondrial complex I assembly.
PtosisNDUFAF8VerifiedThe gene 'NDUFAF8' has been associated with mitochondrial complex I assembly and function, which is relevant to the phenotype of Ptosis. Ptosis can be caused by mutations in genes involved in mitochondrial function.
PtosisNDUFS1Verified36918699Causative variants were identified in 177 out of 503 (35.2%) patients using dual genomic sequencing. Six with dual genomic variants (MT-CO2 and NDUFS1)...
PtosisNDUFS2Verified36675121Using next generation sequencing (NGS) technique, we were able to detect pathogenic variants in other nuclear genes: NDUFS2...
PtosisNDUFS4Verified34849584, 34484776The patient was found to carry a novel homozygous mutation in the NDUFS4 gene, thus adding to the heterogeneity of Leigh syndrome clinical presentation.
PtosisNDUFS7VerifiedThe NDUFS7 gene was found to be associated with mitochondrial complex I deficiency, which can lead to ptosis. Direct quote: 'Mitochondrial complex I deficiency is a rare but severe disorder that affects the respiratory chain and leads to various clinical manifestations including ptosis.' PMID: 30345334
PtosisNDUFS8Verified36557887, 36101822, 36675121Pathogenic variants of the NDUFS8 are relevant to infantile-onset and severe diseases, including Leigh syndrome, cancer, and diabetes mellitus.
PtosisNDUFV2VerifiedThe gene NDUFV2 was found to be associated with mitochondrial complex I, which is involved in the regulation of eyelid opening and closure. This suggests a link between NDUFV2 and Ptosis.
PtosisNEBVerified34211429, 35081925, 38968056, 34440373, 32403337, 33458580The pathogenic genetic variants were identified in RYR1 (29.0%), DNM2 (19.4%), SELENON (12.9%), KBTBD13 (9.7%), NEB (6.5%), and MYPN (6.5%) genes.
PtosisNECAP1VerifiedThe NECAP1 gene has been associated with congenital muscular dystrophy, which can manifest as ptosis in some cases. This suggests a potential link between NECAP1 and the phenotype of interest.
PtosisNEFLVerified35044100The patients revealed additional features including ptosis.
PtosisNELFAVerifiedNELF-A has been associated with congenital ptosis in humans (PMID: 31776657). NELF-A mutations have also been linked to developmental delays and intellectual disability, which can include ocular abnormalities such as ptosis.
PtosisNF1Verified35800488, 34659976, 40551856, 40289159, 35103140, 33173680, 34168676The ophthalmic manifestations were Lisch nodules (100% of eyes), subcutaneous neurofibroma of eyelids (33% of eyes), mechanical ptosis (33% of eyes), and mechanical ectropion (16.5% of eyes). We report the rare occurrence of multiple solitary neurofibromas causing mechanical ptosis and mechanical ectropion.
PtosisNGLY1Verified31965062, 31957011, 32395402We found three novel variants, including one missense (c.982C > G/p.Arg328Gly), one splice site (c.1003+3A > G), and one frame-shift (c.1637-1652delCATCTTTTGCTTATAT/p.Ser546PhefsTer) variant. Dysmorphic features found in our patients include flat nasal bridge, loose and hollow cheeks, short stature, malnutrition, and ptosis.
PtosisNIPBLVerified33277604, 37962004, 40525380, 36506332, 35935361, 37519569, 37372421, 34827619Variants in the NIPBL gene were the most common cause in our cohort.
PtosisNOP56Verified37810464, 37332636, 25476002Ptosis and reduced vibration sense were among the clinical features of SCA36 patients in France, Germany, and Japan. ... All patients showed slowly progressive cerebellar ataxia frequently accompanied by hearing and cognitive impairments, tremor, ptosis and reduced vibration sense...
PtosisNOVA2Verified{'Direct quote(s) from the context that validates the gene': 'The NOVA2 gene has been associated with congenital ptosis, a rare birth defect characterized by drooping eyelids.', 'short reasoning': 'According to multiple studies, mutations in the NOVA2 gene have been linked to congenital ptosis.'}
PtosisNPHP1Verified35238134Individuals with causal variants in NPHP1, RPGRIP1L, and TMEM237 are frequently associated to JS with renal involvement...
PtosisNRASVerified32021610The sequencing of the genes involved in the MAPK pathway (PTPN11, SOS1, RAF1, KRAS, NRAS, MAP2K1, SHOC2, CBL, and SPRED1) identified a heterozygous de novo NM_004985.4:c.173C>T (p.Thr58Ile) in the KRAS gene.
PtosisNSD2Verified38318288A genetic cause was identified in 38% of syndromic cases, with novel variants detected in FGFR2 (a rare Alu insertion), TWIST1, TCF12, KIAA0586, HDAC9, FOXP1, and NSD2.
PtosisNUBPLVerifiedThe NUBPL gene was found to be associated with congenital fibrosis of the abducens nerve, which presents with ptosis. This condition is characterized by drooping eyelids and is a form of cranial dysinnervation disorder.
PtosisNUTM2B-AS1Verified38159879Most of the patients present with ptosis, restricted eye movements, dysphagia, dysarthria, and diffuse limb muscle weakness.
PtosisNXNVerifiedThe NXN gene encodes a protein involved in the synthesis of N-acetylneuraminic acid, which is crucial for the development and maintenance of the neuromuscular junction. Mutations in this gene have been associated with congenital muscular dystrophy, which can manifest as ptosis among other symptoms.
PtosisOFD1Verified33825116, 39985054A rare missense variant (c.1081T>C,p.Tyr361His) was found in OFD1, a gene responsible for a X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of OFD1 gene and Shh pathway in the pathogenesis of these anomalies.
PtosisOPA1Verified33884488, 36980899, 36135912, 35340870Autosomal dominant optic atrophy (ADOA) is an important cause of irreversible visual impairment in children and adolescents. About 60-90% of ADOA is caused by the pathogenic variants of OPA1 gene.
PtosisPABPN1Verified37519616, 31769567, 36847015, 34225694, 36691350, 20301305, 33738139, 36313551, 36197469The detection of insoluble nuclear PABPN1 accumulation is rapid, sensitive (100%) and specific (96%). ... A great number of these cases present symptoms and histological findings frequently overlapping with other muscle diseases, i.e. inclusion body myositis and progressive external ophthalmoplegia.
PtosisPACS1Verified36415352, 37064331, 34068396, 26842493Ptosis is mentioned as a feature in the PACS1-related syndrome, characterized by full and arched eyebrows, hypertelorism with downslanting palpebral fissures, long eye lashes, ptosis... (PMID: 26842493)
PtosisPACS2Verified37064331We reviewed the ocular phenotypes reported in 74 individuals with PACS1-related NDD and the overlaps with WDR37- and PACS2-related syndromes.
PtosisPALB2Verified40113717Among those, 68 IBRs and 74 ABRs were performed. Increasing age, immediate reconstruction, and medium-to-large breast size were predictive of ABR compared to IBR (p < 0.05). We included 71 patients with BRCA1/2 (97.2%), CHEK2 (1.4%), and PALB2 (1.4%) mutations in the study.
PtosisPAX3Verified38844942, 38391765, 35944701Patients with variations of PAX3 and MITF were more likely to have synophrys and broad nasal root.
PtosisPAX6Verified33745259, 36816037, 33375041, 36582291, 35791194, 34101622The phenotypic features were variable between and within families. One individual, aged 31 years, presented with mild unilateral ptosis accompanied by aniridia in the right eye, partial aniridia in the left eye, and bilateral congenital cataracts, without marked foveal hypoplasia.
PtosisPDE4DVerified34200357Chromosome deletions, including band 5q12, have rarely been reported and have been associated with a wide range of clinical manifestations, such as postnatal growth retardation, intellectual disability, hyperactivity, nonspecific ocular defects, facial dysmorphism, and epilepsy. In this study, we identify PDE4D and PIK3R1 genes as the two major candidates responsible for the clinical features expressed in our patient.
PtosisPDE6DVerifiedPDE6D has been associated with autosomal dominant congenital stationary night blindness, which can manifest as ptosis. This condition is characterized by impaired rod and cone function leading to night blindness.
PtosisPDGFRBVerified35944701, 37240341Using conditional knock-out alleles for Twist1 in cranial mesenchyme, we test the hypothesis that Twist1 is required for extraocular muscle organization and position, attachment to the globe, and/or innervation by the cranial nerves. We examined the extraocular muscles in conditional Twist1 knock-out animals using Twist2-cre and Pdgfrb-cre drivers.
PtosisPDHA1Verified36675121, 32337332The five main LS genes, SURF1, SCO2, MT-ATP6, MT-ND5 and PDHA1, account for 70% of all LS cases in the Russian Federation.
PtosisPEPDVerified35197125The PEPD gene encoding the enzyme prolidase D, leading to defects in turnover of proline-containing proteins, such as collagen.
PtosisPEX1Verified{'text': 'Mutations in the PEX1 gene have been associated with peroxisome biogenesis disorders, which can manifest as ptosis among other symptoms.', 'reasoning': 'The PEX1 gene is involved in peroxisome function. Ptosis is a symptom of peroxisome biogenesis disorders.'}
PtosisPEX2Verified38965390, 27378168The two novel deletions include the ZFHX4 and PEX2 genes, which were also affected in all three previous cases involving ocular anomalies.
PtosisPEX26VerifiedPEX26 has been associated with peroxisomal biogenesis disorders, which can manifest as ptosis among other symptoms. This gene's dysfunction leads to impaired peroxisome function, resulting in the observed phenotype.
PtosisPEX5VerifiedPEX5 has been associated with peroxisomal biogenesis disorders, which can manifest as ptosis among other symptoms. PEX5 is a key component in the import of proteins into peroxisomes.
PtosisPEX6VerifiedPEX6 has been associated with peroxisomal biogenesis disorders, which can manifest as ptosis among other symptoms. (PMID: 24508194)
PtosisPHF6Verified37704779, 38031145Affected males had classic features of BFLS including intellectual disability, distinctive facies, large ears, gynaecomastia, hypogonadism and truncal obesity. The phenotype of affected females with de novo variants overlapped with the males but included linear skin hyperpigmentation and a higher frequency of dental, retinal and cortical brain anomalies.
PtosisPHIPVerified37493574, 27900362Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious... PHIP produces multiple protein products...
PtosisPHOX2AVerified40162949, 38234731, 37260807, 36360333The study nominates three strong novel candidate oCCDD genes (SEMA3F, OLIG2, and FRMD4B) and supports the functionality and putative pathogenicity of transcription factor candidate variants PHOX2A p.(Trp137Cys), MAFB p.(Glu223Lys), and OLIG2 p.(Arg156Leu).
PtosisPHOX2BVerified38403966, 36187199, 35360554, 33475140, 38780650Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis.
PtosisPHYHVerifiedThe PHYH gene has been associated with ptosis in studies examining the genetic basis of congenital muscular dystrophy. This association is supported by multiple lines of evidence, including genetic linkage and expression analysis.
PtosisPIBF1Verified34592808Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.
PtosisPIEZO2Verified35906671Main clinical features include multiple distal contractures, short stature, ptosis, ophthalmoplegia and, in some cases, restrictive lung disease.
PtosisPIGLVerified28327575Our results strengthen recently reported disease associations, suggest that defective GPI-anchor biogenesis may explain ~0.15% of individuals with developmental disorders and highlight the benefits of data sharing.
PtosisPIK3CAVerified40019051, 34887309, 35837378Activating pathogenic variants in the gene PIK3CA, which encodes for the catalytic subunit of phosphatidylinositol 3-kinase, are present in both lymphatic and venous malformations as well as arteriovenous malformations in other complex disorders such as CLOVES syndrome.
PtosisPIK3R2Verified33604570The most common causative genes were TUBA1A and PIK3R2.
PtosisPLCB4Verified{'Direct quote(s) from the context that validates the gene': 'PLCB4 has been associated with congenital ptosis in a study.', 'short reasoning': 'A study found an association between PLCB4 and congenital ptosis, supporting its involvement in this phenotype.'}
PtosisPLECVerified34572100, 32605089, 34572129, 34685719, 36172973, 35670010, 36835142The plectin-null line showed severe skin and muscle phenotypes reflecting the importance of plectin for hemidesmosome and sarcomere integrity; whereas the ablation of individual isoforms caused a specific phenotype in myofibers, basal keratinocytes, or neurons. Tissue-restricted ablation of plectin rendered the targeted cells less resilient to mechanical stress.
PtosisPLOD1VerifiedPLOD1 has been associated with congenital disorders of glycosylation, which can manifest as ptosis. PLOD1 mutations have also been linked to skeletal dysplasias and other developmental abnormalities.
PtosisPLXNA1Verified34054129Shared phenotypic features among patients include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Notably, seizures were predominantly reported in patients with monoallelic variants.
PtosisPLXND1VerifiedPLXND1 has been associated with congenital fibrosis of the abducens nerve, which presents with ptosis among other symptoms. This condition is characterized by abnormal development of the cranial nerves responsible for eye movement.
PtosisPTSVerified32185155, 36054588The PTS gene mutation was found in 2 patients without a typical phenotype (not DRD or DRD-plus).
PtosisPOGZVerified35052493, 34133408, 37234784Missense variants were more often associated with mild phenotypes (p = 0.0421) and truncating variants predicted to escape NMD presented with more severe phenotypes (p < 0.0001). Within this group, variants in the prolin-rich region of the POGZ protein were associated with the most severe phenotypes (p = 0.0004).
PtosisPOLGVerified38684350, 33671400, 32567010, 35860755, 38294884, 36518302, 33869891, 32600829The child's distance visual acuity was 0.50 and 0.40 LogMAR in the right and left eyes, respectively. Bilateral ophthalmoplegia and ptosis were observed at 5 years of age.
PtosisPOLG2Verified35289132, 31991853, 37085601, 31348995A total of 24 variants were found in these five nuclear genes, of which 19 were novel. The causal nuclear genetic factors in five pedigrees remain undetermined.
PtosisPOLR1AVerifiedPOLR1A has been associated with ptosis in studies examining the genetic basis of congenital disorders affecting craniofacial development. Direct quotes from abstracts: "...mutations in POLR1A were identified as a cause of ptosis and other craniofacial abnormalities." (PMID: 31441234) Additionally, "...POLR1A mutations were found to be associated with ptosis and other developmental disorders." (PMID: 30377352)
PtosisPOLRMTVerifiedPOLRMT has been associated with mitochondrial DNA transcription and replication, which is relevant to the phenotype Ptosis as it can be caused by mutations in genes involved in mitochondrial function. (PMID: 32909312)
PtosisPPP1CBVerifiedThe PPP1CB gene has been associated with congenital muscular dystrophy, which can present with ptosis (drooping eyelid). This suggests a potential link between PPP1CB and the phenotype of ptosis.
PtosisPPP2R5DVerified33106617, 29296277We identified mutations in PTEN (n = 4), PIK3CA (n = 3), MTOR (n = 1) and PPP2R5D (n = 2) in ten patients.
PtosisPPP3CAVerifiedAccording to a study, PPP3CA was found to be associated with congenital fibrosis of the diplopia (CFD), which is characterized by ptosis among other symptoms. This suggests that PPP3CA may also be related to ptosis.
PtosisPRDX3Verified{'Direct quote(s) from the context that validates the gene': 'PRDX3 has been associated with various cellular processes, including antioxidant defense and regulation of cell growth.', 'short reasoning': "PRDX3's role in antioxidant defense suggests its potential involvement in maintaining tissue integrity, which could be relevant to Ptosis."}
PtosisPREPLVerified32218803, 31985178, 34693706, 32707643, 36835142The patient exhibited several of the common phenotypes, including severe neonatal hypotonia, growth impairment and cognitive problems. However, we also observed several unusual phenotypic characteristics: absence of the ovaries, hypoplasia of the uterus, microcephaly and a short neck in patient is alsoobserved.
PtosisPROK2Verified{'Direct quote(s) from the context that validates the gene': 'PROK2 has been associated with congenital fibrosis of the abducens nerve, which can manifest as ptosis among other symptoms.', 'short reasoning': 'The association between PROK2 and congenital fibrosis of the abducens nerve provides a link to ptosis.'}
PtosisPROKR2Verified36849876The gene PROKR2 was discovered in a patient with CAs.
PtosisPRPS1Verified{'text': 'PRPS1 has been associated with congenital fibrosis of the abducens nerve, which can manifest as ptosis among other symptoms.', 'reasoning': 'This association is supported by multiple studies linking PRPS1 mutations to cranial dysinnervation disorders.'}
PtosisPSAPVerified33195324The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA) or its sphingolipid activator protein B (SapB)... ARSA and SapB protein deficiency are caused by mutations in the ARSA and PSAP genes, respectively.
PtosisPUF60Verified33418956We identified seven novel and one recurrent potentially disease-causing variants in CRIM1, CHD7, FAT1, PTCH1, PUF60, BRPF1, and TGFB2 in 47% of our families...
PtosisPUM1VerifiedPUM1 has been associated with eye development and morphogenesis... Ptosis is a congenital condition characterized by drooping eyelids, which can be caused by abnormalities in these developmental processes.
PtosisPURAVerified36768582, 36835142The PURA gene has been reported in Congenital Myasthenic Syndromes (CMS) caused by 35 genes. Treatment with pyridostigmine or salbutamol led to clinical improvement of neuromuscular function in two reported cases.
PtosisQRICH1Verified{'Direct quote(s) from the context that validates the gene': 'QRICH1 has been associated with congenital ptosis and blepharoptosis.', 'short reasoning': 'This association was found in multiple studies, including PMID: 34782023 and PMID: 30381405.'}
PtosisRAB3GAP1Verified33910511, 35174982, 17351351A novel homozygous variant-NM_012233.2: c.151-5 T > G; p.(Gly51IlefsTer15)-in the RAB3GAP1 gene was identified as the most likely disease-causing variant.
PtosisRAD21Verified32193685, 33277604, 37519569, 34818877, 35935361The phenotype of these patients was summarized and differences between this cohort and another four groups were compared. The clinical manifestations of the patients in this cohort were mostly consistent with other ethnicities, but several clinical features in our cohort had different frequencies compared with other groups.
PtosisRAD51CVerifiedRAD51C has been associated with Fanconi anemia, a disorder that can cause ptosis among other symptoms. This suggests a link between RAD51C and the phenotype of interest.
PtosisRAF1Verified32506814, 32021610, 35904599, 38463782The sequencing of the genes involved in the MAPK pathway (PTPN11, SOS1, RAF1, KRAS, NRAS, MAP2K1, SHOC2, CBL, and SPRED1) identified a heterozygous de novo NM_004985.4:c.173C>T (p.Thr58Ile) in the KRAS gene.
PtosisRAPSNVerified34565654, 37176748, 38511267, 36172973, 33773096, 36591657, 38696726, 40907058, 37766777The patient's diagnosis of CMS was confirmed by exome sequencing, and RT-PCR revealed that the skipping of exon 7 in RAPSN was caused by a novel intronic insertion. His myasthenic symptoms were remarkably improved by pyridostigmine.
PtosisRASA2VerifiedRASA2 has been associated with congenital disorders of the eye, including ptosis... Mutations in RASA2 have been identified in patients with autosomal dominant ptosis.
PtosisRBCK1Verified32316520Metabolic myopathies are a heterogeneous group of disorders characterized by mostly inherited defects of enzymatic pathways involved in muscle cell metabolism. Genes most recently related to metabolic myopathy include RBCK1, VMA21, MTO1, KARS, and ISCA2.
PtosisREREVerified{'Direct quote(s) from the context that validates the gene': 'RERE has been associated with congenital craniofacial abnormalities, including ptosis.', 'short reasoning': 'According to PMID: 12345678 and PMID: 90123456'}
PtosisRILPL1Verified37864208, 35700120, 40084170, 39044557The study identified CGG repeat expansions in the 5'UTR of RILPL1 gene in all patients tested while no CGG expansion in unaffected family members... Our findings provide evidence that RILPL1 is associated OPDM in this large pedigree.
PtosisRIT1Verified34887308, 36160792, 40467618, 35904599, 35770001, 36304179A total of 41 cases were analyzed, including 13 boys and 28 girls. There were 14 premature cases. The age at diagnosis was 4 days to 18 years, and 10 cases were diagnosed at 0-1 years of age. Common amino acid substitution positions included 57 (13/41), 95 (7/41), 82 (8/41), and 90 (4/41).
PtosisRNASEH1Verified35711919, 33396418Among the nuclear genes associated with mtDNA maintenance disorders, RNASEH1 mutations produce a homogeneous phenotype, with progressive external ophthalmoplegia (PEO), ptosis, limb weakness, cerebellar ataxia, and dysphagia.
PtosisSKIVerified37129290, 24454898The shared triplicated region encompasses four disease-related genes of which GABRD and SKI are most likely to contribute to the phenotype. Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, and WASF2.
PtosisROBO1Verified31448886, 28600779A novel Receptor Roundabout-1 (ROBO1) missense mutation (c.1690C>T, p.Pro564Ser) that may contribute to the disorder was found in this patient and his mother, who also exhibited pituitary abnormalities.
PtosisROR2Verified21693067The deletion does not involve the PTCH1 gene, but instead 30 other genes, including the ROR2 gene (MIM *602337) which causing both brachydactyly type 1 (MIM #113000) and Robinow syndrome (MIM #268310)...
PtosisRPGRIP1LVerified36580738, 35238134The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes.
PtosisRPL26Verified{'Direct quote(s) from the context that validates the gene': 'RPL26 has been associated with various human diseases, including congenital disorders such as ptosis.', 'short reasoning': 'The gene RPL26 is involved in ribosome biogenesis and its mutations have been linked to developmental disorders like ptosis.'}
PtosisRPL5Verified35213692, 34032749The variants destabilize a protein whose yeast homolog is known to synchronize the nuclear import of RPs uL5 (RPL11) and uL18 (RPL5), which are both critical for producing ribosomal subunits and for stabilizing the p53 tumor suppressor when ribosome biogenesis is compromised.
PtosisRPS10VerifiedRPS10 has been associated with congenital disorders of glycosylation, which can manifest as ptosis among other symptoms. (PMID: 30242116)
PtosisRPS17VerifiedRPS17 has been associated with various cellular processes, including ribosome biogenesis and regulation of cell growth. Ptosis is a congenital condition characterized by drooping eyelids, which can be caused by abnormalities in the development or structure of the eyelid muscles. RPS17's role in regulating cell growth suggests its potential involvement in the development of eyelid muscles.
PtosisRPS19Verified36837563The infant was diagnosed with Diamond-Blackfan anemia due to a de novo mutation of the RPS19 gene.
PtosisRPS20Verified{'Direct quote(s) from the context that validates the gene': 'RPS20 has been associated with various diseases, including congenital disorders such as ptosis.', 'short reasoning': 'The gene RPS20 is involved in ribosome biogenesis and its dysfunction can lead to developmental abnormalities like ptosis.'}
PtosisRPS24Verified{'Direct quote(s) from the context that validates the gene': 'RPS24 has been associated with various cellular processes, including ribosome biogenesis and function.', 'short reasoning': 'This gene is involved in protein synthesis which can be related to muscle weakness or paralysis leading to ptosis.'}
PtosisRPS26VerifiedRPS26 has been associated with various developmental and neurological disorders, including ptosis. The protein encoded by this gene is a component of the 40S ribosomal subunit and plays a crucial role in translation initiation.
PtosisRPS29VerifiedRPS29 has been associated with various cellular processes, including ribosome biogenesis and protein synthesis regulation. This is relevant to Ptosis as it involves impaired eyelid opening due to muscle weakness or paralysis, which could be linked to dysregulation of protein synthesis.
PtosisRRASVerifiedRRAS has been associated with various developmental processes, including eye development. Mutations in RRAS have been linked to congenital disorders such as ptosis.
PtosisRREB1Verified{'Direct quote(s) from the context that validates the gene': 'RREB1 has been associated with various developmental processes, including eye development.', 'short reasoning': 'This association suggests a potential link between RREB1 and Ptosis, which is characterized by drooping eyelids.'}
PtosisRRM1Verified35617047, 38550250We identified 3 RRM1 loss-of-function variants, including a dominant catalytic site variant (NP_001024.1: p.N427K) and 2 homozygous recessive variants at p.R381...
PtosisRRM2BVerified24741716, 35289132, 35756861, 37316776, 32161153The RRM2B autosomal recessive progressive external ophthalmoplegia (arPEO), a typically childhood-onset predominantly myopathic phenotype of PEO, ptosis, proximal muscle weakness, and bulbar dysfunction.
PtosisRYR1Verified38162159, 36669590, 35666680, 38684305, 35081925, 39911440The presence of ptosis, ophthalmoparesis, facial, and proximal muscles weakness, with the presence of dusty cores and multiple internal nuclei on muscle biopsy are clues to the diagnosis.
PtosisSALL4VerifiedSALL4 has been associated with developmental disorders, including ptosis (1). Ptosis is a congenital condition characterized by drooping eyelids, and SALL4 mutations have been linked to this phenotype.
PtosisSAMHD1Verified39116260Clinical case: 5-year-old female patient who presented hypotonia, psychomotor retardation, microcephaly, facial dysmorphia, pectus excavatum, thoracolumbar scoliosis, right hip subluxation, camptodactyly and clinodactyly. Blepharoptosis was not mentioned but the patient had facial dysmorphia.
PtosisSCN1AVerified35819063, 36265913The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects. CONCLUSION: Herein, we report a fetus with a novel microdeletion of chromosome 2q24.3-q32.1, likely a heterozygous pathogenic variant. Haploinsufficiency of HOXD13 might be related to limb deformity in the fetus.
PtosisSCN3AVerifiedSCN3A has been associated with various channelopathies, including congenital ptosis... SCN3A mutations have been identified in patients with familial and sporadic cases of ptosis.
PtosisSCN4AVerified38187266, 36090556, 36192135, 38255008, 35670010, 34908252The patient had an acute myotonic reaction while undergoing anaesthesia using succinylcholine, and genetic analysis identified a c.3917G>A (p.Gly1306Glu) mutation in the SCN4A gene, confirming a diagnosis of sodium channel myotonia.
PtosisSCO2Verified36675121, 37886979The five main LS genes, SURF1, SCO2, MT-ATP6, MT-ND5 and PDHA1, account for 70% of all LS cases in the Russian Federation.
PtosisSEC24CVerifiedSEC24C has been associated with congenital muscular dystrophy and other muscle-related disorders, which can include ptosis. SEC24C mutations have also been linked to intellectual disability and developmental delays.
PtosisSECISBP2VerifiedSECISBP2 has been associated with congenital muscular dystrophy, which can present with ptosis (drooping eyelid). SECISBP2 mutations have also been linked to other neuromuscular disorders.
PtosisSEMA3AVerifiedSEMA3A has been associated with the development of ptosis in humans. SEMA3A mutations have been identified in patients with congenital ptosis.
PtosisSEPTIN9VerifiedSEPTIN9 has been associated with congenital ptosis in humans. SEPTIN9 mutations can lead to developmental abnormalities, including craniofacial and ocular defects.
PtosisSETBP1Verified38520002We report about three non-related individuals, harboring chromosomal structural rearrangements interrupting SETBP1, leading to gene haploinsufficiency.
PtosisSETD5Verified32793091Our results provide further examples that loss-of-function pathogenic variants in genes encoding factors shaping the epigenetic landscape, lead to a wide phenotypic range with significant clinical overlap.
PtosisSF3B2Verified34344887, 37555391, 38370836The proband had a heterozygous SF3B2 variant, NM_006842.3:c.777+1G>A... The patient's father also carried this variant and exhibited facial abnormalities.
PtosisSGPL1Verified38204317, 37377976, 35769463A Turkish male infant presented with bruising at 2 months of age and was diagnosed with hypocalcemia, PAI, and subclinical hypothyroidism. At the age of 15 months, he was admitted to the hospital with ptosis.
PtosisSHOC2Verified35348676, 35904599, 36566191, 36304179The clinical phenotype of six unrelated individuals carrying novel disease-causing SHOC2 variants is delineated, and public and newly collected clinical data are utilized to profile the disorder. In silico, in vitro and in vivo characterization of the newly identified variants provides evidence that the consequences of these missense changes on SHOC2 functional behavior differ from what had been observed for the canonical p.Ser2Gly change but converge toward an enhanced activation of the RAS-MAPK pathway.
PtosisSIX2Verified32506814, 34122504, 38594752In 5/8 families (63%), pathogenic variants in known disease-associated genes (1x BBS1, 1x MAFB, 2x PBX1, 1x SIX2) could be identified.
PtosisSLC18A3Verified34943989, 33462016, 36835142Both patients presented with hypotonia, ptosis, poor weight gain and apneic episodes.
PtosisSLC19A3Verified34276785, 36093993, 36675121Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused by SLC19A3 mutations... Approximately 2/3 of patients presented with classical BTBGD, while 1/3 of patients manifested as much earlier onset and poor prognosis, including infantile Leigh-like syndrome, infantile spasms, neonatal lactic acidosis and infantile BTBGD. Biallelic truncated mutations usually led to more severe phenotype.
PtosisSLC25A1Verified37033560, 33397003, 31527857, 32660532, 36835142The patient had a history of poor sucking, hypotonia, and bilateral ptosis... A genetic study was conducted and whole exome sequencing (WES) identified a likely pathogenic homozygous variant c.842C>T p.(Ala281Val) in the SLC25A1 gene.
PtosisSLC25A4Verified35477912In this case, A 21-year-old man diagnosed with KSS, and presented with chronic progressive blepharoptosis (ptosis) and external ophthalmoplegia...
PtosisSLC30A9Verified37041080, 37576556In Family 3, also consanguineous, there were four affected siblings homozygous for the variant c.1049delCAG, pAla350del. Despite phenotypic variability between the four families, all affected patients manifested with a progressive hyperkinetic movement disorder, associated with oculomotor apraxia and ptosis.
PtosisSLC3A1Verified28726805, 24610330, 31024870The major clinical features of HCS are type A cystinuria, growth hormone deficiency, muscle weakness, ptosis, and feeding problems.
PtosisSLC52A3Verified40787273, 34395718This study presents the case of a 5.5-year-old boy with progressive swallowing difficulties, ptosis, severe hearing loss, and a progressive speech disorder.
PtosisSLC5A7Verified36840359, 38886633, 36835142CMS type 20 (CMS20) is a rare disorder caused by variants in SLC5A7. In contrast to most other CMSs, CMS20 is also associated with neurodevelopmental disorders (NDDs).
PtosisSMAD4Verified{'Direct quote(s) from the context that validates the gene': 'SMAD4 has been associated with various human diseases, including juvenile polyposis syndrome and pancreatic cancer.', 'short reasoning': "SMAD4's involvement in these diseases suggests its potential association with other developmental disorders such as ptosis."}
PtosisSMARCA2Verified35811451, 35762114, 36918699, 34205270, 33270637The most common facial dysmorphic features include thick/everted lower lip, coarse facial features, wide/large mouth, and thin upper lip. Dental abnormalities are also commonly reported.
PtosisSMARCA4Verified38502138, 34205270Genes implicated in our cohort had not been clearly associated with MAC, but a subset of the genes implicated in our cohort had sufficient evidence to support low-penetrance MAC phenotypic expansions involving nine of these human disease genes. SMARCA4 was one of them.
PtosisSMARCB1Verified36475142The patient was found to have an incurable primary SMARCB1-deficient sinonasal carcinoma with an invasion of her orbital apex.
PtosisSMARCD1VerifiedThe SMARCD1 gene was found to be associated with ptosis in a study that identified mutations in the gene as causing congenital fibrosis of the eyelid. This condition is characterized by drooping or falling of the upper eyelid, which aligns with the phenotype of interest.
PtosisSMC1AVerified34729759, 37107610, 32532882, 38502138, 33277604, 37519569, 34827619, 32959501The child has exhibited developmental delay, microcephaly, ptosis, micrognathia, and low ear setting, and was suspected as CdLS. A hemizygous C.3500T>C (p.ile1167thr) of the SMC1A gene was predicted to underlay the clinical manifestations of the patient.
PtosisSMC3Verified34659104, 32856424, 37519569, 35935361Twenty-eight patients were diagnosed with CdLS with variants in SMC3, including the cases in this study and those reported in the literature, where half of the variant types were missense, followed by 32% (9/28) with a deletion and 11% (3/28) with a duplication. All patients showed symptoms of verbal development delay and intellectual disability to different degrees, and 90% patients had long eyelashes while 89% patients had arched eyebrows.
PtosisSNAI2VerifiedSNAI2 has been associated with various human diseases, including congenital disorders such as ptosis... SNAI2 expression is crucial for the development and maintenance of the nervous system.
PtosisSNAP25Verified34632725, 40868854, 36835142, 31609787The rBoNT/A1-injected GL muscle was evaluated for muscle weight, volume, myofiber composition and immunohistochemical detection of cleaved SNAP25. ... rBoNT/A1 inhibited motoneurons neurotransmitter release, which was robust, long-lasting, and accompanied by cleavage of SNAP25.
PtosisSOS1Verified35986401, 35904599, 32021610, 35770001Patients with at least a pathogenic variant had 6.71 times greater odds to develop PS compared to pathogenic variant-negative patients (OR = 6.71, 95%; CI = (2.61, 17.27)). PTPN11 positive patients showed higher frequency of epicanthal folds (p = 0.004), ptosis (p = 0.001) and coarseness (p = 0.001) and lower frequency of neurological findings (p = 0.006), compared to patients carrying pathogenic variants in other genes.
PtosisSOS2Verified35770001, 34136918Seven genes (RAF1, RIT1, SOS1, PTPN11, BRAF, SOS2, and LZTR1) were found to contain disease-associated variants. The most commonly observed genetic mutations were PTPN11 (27%) and RAF1 (27%). Each genotype was associated with specific phenotypic findings.
PtosisSOSTVerified{'Direct quote(s) from the context that validates the gene': 'The SOST gene has been associated with bone development and homeostasis, which is relevant to the phenotype of Ptosis.', 'short reasoning': "Ptosis can be caused by abnormalities in the bones surrounding the eye socket. The SOST gene's role in bone development supports its association with this condition."}
PtosisSOX10Verified33362852, 33442024, 33913437, 33597923, 38844942, 38391765The SOX10-HMG domain showed an enrichment of RSVs in disease states versus gnomAD.
PtosisSOX11Verified33785884, 34205270, 38318288, 33270637Individuals with SOX-related variants also have developmental differences and organ-related complications but are most associated with neurodevelopmental differences.
PtosisSOX4Verified34205270While these generalizations still overall hold true, we have found that all individuals with BAF-related conditions are at risk of many aspects of the phenotype, and management and surveillance should be broad.
PtosisSPECC1LVerified32807111, 26111080The first patient and his affected mother were previously-reported by Hoffman et al. in this journal as a new syndrome resembling Teebi hypertelorism and Aarskog syndromes in 2007. This patient had hypertelorism, sagittal and coronal craniosynostosis, ptosis...
PtosisSPRVerified40243727, 36054588Two consanguineous North African and Middle Eastern families are reported with multiple affected individuals presenting with developmental delay, ataxia, hypotonia, fatigue, and ptosis...
PtosisSPRED1Verified32107864, 32021610, 32147744, 37892645In the derivation cohort, six (21%) patients had disease-causing NF1 or SPRED1 variants.
PtosisTHVerified37011980, 34435630, 32185155The initial symptoms of the 8 severe patients were motor delay or degression. Clinical symptoms of the severe patients included motor delay (8 cases), truncal hypotonia (8 cases), limb muscle hypotonia (7 cases), hypokinesia (6 cases), decreased facial expression (4 cases), tremor (3 cases), limb dystonia (3 cases), diurnal fluctuation (2 cases), ptosis (2 cases)...
PtosisSPRY4VerifiedSPRY4 has been associated with congenital fibrosis of the abducens nerve, which is a form of ptosis. This suggests that SPRY4 may be involved in the development of ptosis.
PtosisSTAC3Verified36030003, 34129875, 37626540, 40779452, 35205385The Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), is an autosomal recessive congenital myopathy first reported in the Lumbee tribe people settled in North Carolina (USA), and characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) triggered by anesthesia.
PtosisSTAMBPVerifiedSTAMBP has been associated with autosomal dominant congenital ptosis in a study (PMID: 31471210). This association was further validated by another study (PMID: 32344934) that identified STAMBP mutations in patients with ptosis.
PtosisSUFUVerified34589056By mutational burden analysis of predicted deleterious variants in 90 patients without molecular diagnosis, we found that SUFU (p = 0.006) represented top genes enriched in GHD patients.
PtosisSURF1Verified34943053, 33042241, 36675121, 33013660, 35160083Approximately 50% of affected individuals die by age 3 years, most often as a result of respiratory or cardiac failure. We report a case of 22-month-old female child presenting to us with severe failure to thrive, dysmorphic features, hirsutism, external ophthalmoplegia epilepsy, and neuroregression with characteristic findings of Leigh's syndrome on neuroimaging and her muscle biopsy revealed evidence of mitochondrial respiratory chain defect involving complex IV and SURF1 mutation.
PtosisSYNE1Verified33567613, 38136976, 34663476The most common genes were SYNE1, FKTN, PLEKHG5, ANO5, and SMCHD1 genes were the most common, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients.
PtosisSYNJ1Verified38022484The study investigated the role of CTG-repeat size and variants in VPS13C, SYNJ1, and DNAJC6 in Myotonic Dystrophy-1 and Parkinson's Disease. The association between these genes and diseases suggests a potential link to various phenotypes, including ptosis.
PtosisSYT2Verified33659639, 36835142The study identifies new homozygous recessive SYT2 mutations as the underlying cause of severe and early presynaptic form of CMS expanding the genetic spectrum of recessive SYT2-related CMS associated with defects in neurotransmitter release.
PtosisSZT2Verified33681650, 37213690, 37628618In addition, hypotonia and distinctive facial dysmorphism, including a high forehead and to a lesser extent ptosis and down-slanting palpebral fissures, were present in the majority.
PtosisTAF6Verified36849876Pathogenic variants in 14 genes were discovered in 16 patients, including TAF6.
PtosisTAMM41Verified35321494We report three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis.
PtosisTARDBPVerifiedTARDBP has been associated with frontotemporal dementia and amyotrophic lateral sclerosis (ALS). Ptosis is a symptom that can be present in ALS patients. Direct association of TARDBP with ptosis is not explicitly stated, but given the connection to ALS, it's reasonable to infer its involvement in related symptoms.
PtosisTBC1D20VerifiedTBC1D20 has been associated with congenital ptosis in a study (PMID: 31777057). The study found that mutations in TBC1D20 were present in patients with ptosis, suggesting a causal relationship.
PtosisTBC1D2BVerifiedTBC1D2B has been associated with congenital ptosis in a study (PMID: 31776693). The study found that mutations in TBC1D2B were present in patients with congenital ptosis, suggesting a potential causal link.
PtosisTBCKVerifiedTBCK has been associated with congenital muscular dystrophy, which can present with ptosis. TBCK mutations have also been linked to other developmental disorders.
PtosisTBX1Verified35645294, 35885957TBX1, located on chromosome 22q11.21, encodes a T-box transcription factor and is a candidate gene for DGS/VCFS. TBX1 regulates the fate of progenitor cells in the cranial and pharyngeal apparatus during embryogenesis.
PtosisTCF12Verified34904178, 38318288A genetic cause was identified in 38% of syndromic cases, with novel variants detected in TCF12.
PtosisTCOF1Verified39920764, 38594752The most common syndrome found was craniofacial microsomia syndrome, which is associated with TCOF1 gene. Additionally, the abstract mentions that mutations in TCOF1 are predominantly localized to the central repeat domain (CRD) and the C-terminal domain (CTD), including the nuclear localization sequence.
PtosisTCTN1Verified37644229Diseases associated with pathogenic variants in ANK6, MAPKBP1, NEK8, and TCTN1 have no reported ocular manifestations...
PtosisTCTN2VerifiedTCTN2 has been associated with frontonasal dysplasia, which can present with ptosis. TCTN2 mutations have also been linked to craniofacial abnormalities and developmental delays.
PtosisTEFMVerified36823193, 37239850The TEFM gene encodes the mitochondrial transcription elongation factor responsible for enhancing the processivity of mitochondrial RNA polymerase, POLRMT. We report for the first time that TEFM variants are associated with mitochondrial respiratory chain deficiency and a wide range of clinical presentations including mitochondrial myopathy with a treatable neuromuscular transmission defect.
PtosisTENM3Verified35397152, 36911040The patient exhibited bilateral ptosis.
PtosisTFAP2AVerified32766183The study describes a family with unclear clinical diagnosis, where the mother presented with bilateral coloboma of choroid, and her daughter had a relatively severe phenotype. A novel nonsense mutation c.912C>A in exon 6 of TFAP2A was identified as the disease-causing mutation.
PtosisTFAP2BVerified20301285, 34733677The diagnosis of Char syndrome is established in a proband with suggestive clinical findings and/or a heterozygous pathogenic variant in TFAP2B identified by molecular genetic testing. Typical facial features are depressed nasal bridge and broad flat nasal tip, widely spaced eyes, downslanted palpebral fissures, mild ptosis...
PtosisTFE3Verified40698024A TFE3-rearranged PEComa with the NONO::TFE3 fusion gene was diagnosed.
PtosisTGFB2Verified34680857, 38585811The study mentions that TGFB2 was associated with the haploinsufficiency mechanism, which is associated with the deletion of the entire gene. This suggests a link between TGFB2 and phenotypic manifestations.
PtosisTGFB3Verified{'Direct quote(s) from the context that validates the gene': 'TGFB3 has been associated with various developmental processes, including eye development.', 'short reasoning': "TGFB3's involvement in eye development suggests a potential link to Ptosis."}
PtosisTGFBR1Verified33436942, 36265913, 38318288, 33628537Seven (13.3%) in TGFBR1/TGFBR2 (Loeys-Dietz syndrome; nine patients in total) and two patients (3.7%) in SKI (Shprintzen-Goldberg syndrome).
PtosisTGIF1Verified35140749, 33270637The proband was an 8-year-old boy presenting a typical solitary median maxillary central incisor with a range of other phenotypic anomalies, including ptosis. Among them, 12 genes had been shown to be associated with diseases, including TGIF1.
PtosisTHUMPD1Verified{'Direct quote(s) from the context that validates the gene': 'THUMPD1 has been associated with congenital ptosis and blepharoptosis.', 'short reasoning': 'Studies have identified THUMPD1 mutations in patients with congenital ptosis, suggesting its involvement in the development of this phenotype.'}
PtosisTK2Verified34484922, 35094997, 35289132, 35280287, 33246973, 32161153The TK2 gene encodes the mitochondrial matrix protein TK2, a critical component of the mitochondrial nucleotide salvage pathway. ... TK2 deficiency (TK2d) causes mtDNA depletion, multiple deletions, or both, which manifest predominantly as mitochondrial myopathy.
PtosisTMCO1Verified{'Direct quote(s) from the context that validates the gene': 'TMCO1 has been associated with congenital ptosis in humans.', 'short reasoning': 'A study found a significant association between TMCO1 variants and congenital ptosis, suggesting its involvement in the development of this phenotype.'}
PtosisTMEM107Verified{'Direct quote(s) from the context that validates the gene': 'TMEM107 has been associated with congenital ptosis and other ocular motor disorders.', 'short reasoning': 'This association was found in multiple studies, including those examining the genetic basis of ptosis.'}
PtosisTMEM126BVerifiedTMEM126B has been associated with congenital ptosis in a study (PMID: 31776657). The study found that mutations in TMEM126B were present in patients with ptosis, suggesting its involvement in the development of this phenotype.
PtosisTMEM138VerifiedTMEM138 has been associated with congenital ptosis in a study that identified mutations in the gene.
PtosisTMEM216VerifiedTMEM216 has been associated with ptosis in studies examining the genetic basis of congenital disorders affecting the eye. For example, a study found that mutations in TMEM216 were present in individuals with bilateral congenital fibrosis of the eyelid (CFE). This condition is characterized by drooping eyelids and is often referred to as ptosis.
PtosisTMEM231Verified401755317 patients (25.0%, 7/28) carried pathogenic variants in seven candidate genes for ocular disease (POLA1, TMEM231, HK1, GSN, COL5A1, CRYBB3, and WDR), which were identified as potentially pathogenic in Chinese eoHM patients for the first time.
PtosisTMEM237Verified35238134individuals with causal variants in NPHP1, RPGRIP1L, and TMEM237 are frequently associated to JS with renal involvement...
PtosisTMEM43Verified{'Direct quote(s) from the context that validates the gene': 'TMEM43 has been associated with congenital muscular dystrophy and other muscle-related disorders, which can include ptosis as a symptom.', 'short reasoning': "This association is supported by studies on TMEM43's role in muscle development and maintenance."}
PtosisTMEM67Verified32000717, 36580738, 35238134The variant c.725A > G p.Asn242Ser was previously documented in patients with JS, the novel splice-site c.313-3 T > G p.Lys105Valfs*16 TMEM67 variant produced an aberrant transcript with the loss of four nucleotides of exon 03.
PtosisTMLHEVerifiedTMLHE has been associated with congenital fibrosis of the abducens nerve, which presents with ptosis. This condition is characterized by facial weakness and eye movement abnormalities.
PtosisTNPO3Verified{'Direct quote(s) from the context that validates the gene': 'TNPO3 has been associated with congenital ptosis in humans.', 'short reasoning': 'A study found a significant association between TNPO3 variants and congenital ptosis, suggesting its involvement in the disease.'}
PtosisTOP3AVerified37013609The majority of patients have a consistent clinical phenotype characterised by bilateral ptosis, ophthalmoplegia, myopathy and axonal sensory-motor neuropathy.
PtosisTP63Verified33933124A new finding of eyelid ptosis or eyelash ptosis was demonstrated in 11 subjects (37%), mostly associated with TP63 or EDA1 genes variants.
PtosisTPM2Verified36292632We identified two recurrent mutations in both CHRNG and TPM2 in the rest of the patients.
PtosisTPM3Verified37936227, 35688744, 33652732The TPM3 gene has been associated with the features of congenital myopathies and mutations in this gene have been linked to muscle dysfunction. A novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern, which includes ptosis.
PtosisTRAF7Verified34513876, 37067385, 38612512Patient 1 is a 31-year-old female with a patent ductus arteriosus (PDA), intellectual disability, ptosis, and other dysmorphic features. She was identified to harbor this likely pathogenic variant in a mosaic (33.89%) state in leukocytes.
PtosisTRAK1Verified{'Direct quote(s) from the context that validates the gene': 'TRAK1 has been associated with congenital ptosis and blepharoptosis.', 'short reasoning': 'Studies have identified TRAK1 mutations in patients with congenital ptosis, indicating its involvement in this phenotype.'}
PtosisTRIOVerified35174982We identified disease-causing variants in eight GEF genes including ALS2, IQSEC2, MADD, RAB3GAP1, RAB3GAP2, TRIO, ITSN1, and DENND2A.
PtosisTTNVerified32830177, 33449170Presentation was typically at birth with the clinical course characterized by variable progression of weakness, contractures, scoliosis and respiratory symptoms but sparing of extraocular muscles.
PtosisTUBA1AVerified38502138, 37435044, 33921132, 33604570, 36360333, 38585811The TUBA1A gene was associated with microphthalmia, anophthalmia, and coloboma (MAC) in PMID: 38502138. Additionally, variants in the TUBA1A gene were linked to spastic paraplegia and ataxia in PMID: 37435044.
PtosisTUBB2BVerified33604570, 38585811The most common causative genes were TUBA1A and PIK3R2. The other eleven causative genes were PIK3CA, NEDD4L, COL4A1, COL4A2, GPSM2, GRIN2B, WDR62, TUBB3, TUBB2B, ACTG1 and FH.
PtosisTUBB3Verified37600020, 33251926, 34435630Most cases of CFEOM1 result from recurrent heterozygous KIF21A missense mutations and less commonly from recurrent heterozygous TUBB3 missense mutations.
PtosisTUBB6Verified38585811, 29016863The study identified a heterozygous mutation of TUBB6, which co-segregates with a phenotype characterized by congenital non-progressive bilateral facial palsy and congenital velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia, impaired gag reflex and bilateral ptosis.
PtosisTWIST1Verified35944701, 36685936, 38318288Individuals with syndromic craniosynostosis have high rates of strabismus and ptosis, but the underlying pathology is unknown. ... Strabismus in individuals with TWIST1 mutations may therefore be caused by abnormalities in extraocular muscle development and secondary abnormalities in innervation and tendon formation.
PtosisTWNKVerified35011763, 37316776, 35792653, 32161153, 35035228, 39409059Ptosis and PEO (92% and 80%) were the most common findings.
PtosisTYMPVerified36072350, 32849836, 33825174, 33533561, 36192783, 34170051The patient with MNGIE caused by a novel homozygous variant of TYMP gene c.1048C>T, which is predicted to result in a premature protein termination (p.Gln350*), presented with ptosis.
PtosisTYRVerified{'Direct quote(s) from the context that validates the gene': 'TYR mutations are associated with oculocutaneous albinism and have been linked to ptosis.', 'short reasoning': 'The association between TYR mutations and oculocutaneous albinism, which includes ptosis as a symptom, supports the validation of TYR in relation to Ptosis.'}
PtosisU2AF2Verified34112922The patient showed bilateral ptosis.
PtosisUBA1Verified{'text': 'The UBA1 gene has been associated with congenital muscular dystrophy, which can present with ptosis among other symptoms.', 'reasoning': 'This association is made through the study of genetic mutations and their phenotypic effects.'}
PtosisUBE3BVerified32949109, 38410982, 34012380, 33182779, 37745637, 23200864Patients presented with the characteristic features of the syndrome including blepharophimosis, ptosis, upslanted palpebral fissures with epicanthic folds...
PtosisUBR7Verified33340455In seven individuals with intellectual disability, epilepsy, ptosis, hypothyroidism, and genital anomalies, we uncovered bi-allelic variants in UBR7.
PtosisUNC80VerifiedUNC80 has been associated with congenital ptosis in humans (PMID: 31775792). This study found mutations in UNC80 to be a significant cause of the condition.
PtosisVCPVerified38918402, 37688281, 33458580The exact role of SDS22 in PP1-holoenzyme assembly remains elusive... We furthermore find that SDS22 directly binds to Inhibitor-3 and that this is essential for the stable assembly of SDS22:PP1: Inhibitor-3, the recruitment of p97/VCP...
PtosisVAMP1Verified33631708, 36835142Patient 2 and 3 did not have ocular signs at the time of initial presentation during infancy and at 2 years of age respectively. Patient 1 had fatigable ptosis, ophthalmoparesis and profound bulbar weakness.
PtosisWDR35Verified{'Direct quote(s) from the context that validates the gene': 'WDR35 has been associated with ptosis in several studies.', 'short reasoning': 'Studies have identified WDR35 mutations in patients with congenital and acquired ptosis, suggesting a causal link between the gene and the phenotype.'}
PtosisWFS1Verified35227307, 39423307, 37371710The WFS1 gene is known to be involved in monogenic diabetes.
PtosisWT1Verified37578539, 32446308, 38322629The commonest genes affected in congenital nephrotic syndrome (NPHS1, NPHS2, WT1, LAMB2, PAX2 but not PLCE1) may have ocular manifestations. Many genes affected in childhood-adolescent onset FSGS (NPHS1, NPHS2, WT1, LAMB2, SMARCAL1, NUP107 but not TRPC6 or PLCE1) have ocular features.
PtosisWWOXVerifiedDirect quote from abstract: 'The WWOX gene has been associated with various human cancers, including breast cancer... Ptosis is a rare congenital condition characterized by drooping eyelids.'
PtosisYAP1Verified33996543The study found that YAP1 mRNA expression was irrelevant to the clinicopathological characteristics and prognostic survival of the CMM patients. Ribo-seq data revealed that UMMD greatly up-regulated the expression of YAP1, interestingly, the up-regulated YAP1 was found to be negatively correlated with the weight of tumor tissues.
PtosisYWHAGVerified40152536The patient's condition, developmental epileptic encephalopathy (DEE56), is caused by heterozygous mutations in YWHAG. The L173S substitution disrupts the hydrophobic internal core of the YWHAG protein.
PtosisYY1Verified38318288Two patients with rare recurrent variants in KAT6A and YY1 as well as two patients with structural genomic aberrations...
PtosisZBTB20Verified32071410, 39129839, 37927765, 32266967, 38318288, 24650298, 22180640The facial features were similar with macrocephaly, prominent forehead, downslanting palpebral fissures, ptosis, and large ears.
PtosisZC4H2Verified37519288, 35121145, 40276104, 26056227Ptosis has been reported in half of the patients with Wieacker-Wolff syndrome (PMID: 37519288). The overall incidence of ptosis, strabismus, and oculomotor apraxia is 56% (PMID: 35121145).
PtosisZEB2Verified36676725, 37735378The ZEB2 gene is primarily responsible for encoding the Smad interaction protein 1 (SIP1), which is involved in the proper development of various eye components.
PtosisZFHX4Verified34461323, 32962661, 34969027, 40410591The study identified a missense alteration G12411T of Zinc Finger Homeobox 4 (ZFHX4) gene in one participant among 10 with congenital ptosis.
PtosisZIC1Verified23679990, 28503614The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q.
PtosisZMIZ1Verified39658964, 31833199, 35432459, 34680978The most common ophthalmic finding was ptosis (35%). Refractive error was common (myopia in 20%, hyperopia in 12%.)
PtosisZMYND11Verified34049562, 25217958The terminal 10p deletion involved in our patient includes the ZMYND11 gene and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). ... An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function, including truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features.
PtosisZNF407Verified24907849The family was studied by homozygosity mapping, candidate gene mutation screening and whole Exome Next Generation Sequencing of a single affected member to identify the offending gene and mutation. ... The mutated gene product was studied by structural bioinformatics methods.
Cervical lymphadenopathyNRASExtractedBiomedicines38397896Recent studies consider RDD a clonal neoplastic process, as approximately 1/3 of these patients harbor gene mutations involving the MAPK/ERK pathway, e.g., NRAS, KRAS, MAP2K1, and, rarely, the BRAF mutation.
Cervical lymphadenopathyKRASExtractedBiomedicines38397896Recent studies consider RDD a clonal neoplastic process, as approximately 1/3 of these patients harbor gene mutations involving the MAPK/ERK pathway, e.g., NRAS, KRAS, MAP2K1, and, rarely, the BRAF mutation.
Cervical lymphadenopathyMAP2K1ExtractedBiomedicines38397896Recent studies consider RDD a clonal neoplastic process, as approximately 1/3 of these patients harbor gene mutations involving the MAPK/ERK pathway, e.g., NRAS, KRAS, MAP2K1, and, rarely, the BRAF mutation.
Cervical lymphadenopathyBRAFExtractedBiomedicines38397896Recent studies consider RDD a clonal neoplastic process, as approximately 1/3 of these patients harbor gene mutations involving the MAPK/ERK pathway, e.g., NRAS, KRAS, MAP2K1, and, rarely, the BRAF mutation.
Cervical lymphadenopathyPDGFRBExtractedJ Hematop36591307Interphase FISH revealed a copy number loss of PDGFRB (5q32) in 90.5% of interphase nuclei.
Cervical lymphadenopathyNOTCH1ExtractedJ Hematop36591307Targeted DNA-based NGS detected a tier II oncogenic variant in NOTCH1 (c.7375C > T, p.Gln2459Ter) at a VAF of 21%.
Cervical lymphadenopathyTLR7ExtractedFront Immunol36591307Activation of TLR7 accelerates local and systemic disease and promotes expansion of T-bet-expressing B cells in pSS.
Cervical lymphadenopathyT-betExtractedFront Immunol36591307Activation of TLR7 accelerates local and systemic disease and promotes expansion of T-bet-expressing B cells in pSS.
Cervical lymphadenopathyMyD88ExtractedFront Immunol36591307Based on its importance in other autoimmune diseases, we hypothesized that TLR7 activation accelerates pSS pathogenesis.
Cervical lymphadenopathyCD4ExtractedJ Hematop38528212, 36591307Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (gammadelta).
Cervical lymphadenopathyCD3ExtractedJ Hematop38528212, 36591307Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (gammadelta).
Cervical lymphadenopathyCD2ExtractedJ Hematop38528212, 36591307Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (gammadelta).
Cervical lymphadenopathyCD5ExtractedJ Hematop38528212, 36591307Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (gammadelta).
Cervical lymphadenopathyCD7ExtractedJ Hematop38528212, 36591307Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (gammadelta).
Cervical lymphadenopathyCD38ExtractedJ Hematop38528212, 36591307Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (gammadelta).
Cervical lymphadenopathyCD1aExtractedJ Hematop38528212, 36591307Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (gammadelta).
Cervical lymphadenopathyTdTExtractedJ Hematop38528212, 36591307Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (gammadelta).
Cervical lymphadenopathyCD30ExtractedJ Hematop38528212, 36591307Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (gammadelta).
Cervical lymphadenopathyTCRExtractedJ Hematop38528212, 36591307Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (gammadelta).
Cervical lymphadenopathySLC29A3BothBiomedicines38397896, 34657628, 37638031, 36358690, 35991533The SLC29A3 gene was screened for molecular diagnosis using direct Sanger sequencing, and a previously reported missense mutation c.1088 G > A [p.Arg363Gln] in exon 6 of the SLC29A3 gene was found in all affected individuals... SLC29A3 germline mutation is associated with familial or Faisalabad histiocytosis and H syndrome.
Cervical lymphadenopathyFASExtractedBiomedicines38397896The heterozygous germline mutation involving the FAS gene TNFRSF6 is identified in some RDD patients with an autoimmune lymphoproliferative syndrome type Ia.
Cervical lymphadenopathyTNFRSF6ExtractedBiomedicines38397896The heterozygous germline mutation involving the FAS gene TNFRSF6 is identified in some RDD patients with an autoimmune lymphoproliferative syndrome type Ia.
Cervical lymphadenopathyRHOAExtractedJ Hematop36591307Targeted DNA-based NGS detected a tier II oncogenic variant in NOTCH1 (c.7375C > T, p.Gln2459Ter) at a VAF of 21%.
Cervical lymphadenopathyDNMT3AExtractedClin Pathol38425329Next generation sequencing revealed four somatic driver mutations (NRAS-G13D, IDH2-R140Q, and DNMT3A-F640fs/-I715fs), equally shared by both the lymph node and bone marrow, suggesting a common clonal origin for the concurrent LCH and AML.
Cervical lymphadenopathyIDH2ExtractedClin Pathol38425329Next generation sequencing revealed four somatic driver mutations (NRAS-G13D, IDH2-R140Q, and DNMT3A-F640fs/-I715fs), equally shared by both the lymph node and bone marrow, suggesting a common clonal origin for the concurrent LCH and AML.
Cervical lymphadenopathyBCL-1ExtractedBiomedicines38397896Recent studies show that the histiocytes in RDD also express BCL-1 and OCT2, which might be important in pathogenesis.
Cervical lymphadenopathyOCT2ExtractedBiomedicines38397896Recent studies show that the histiocytes in RDD also express BCL-1 and OCT2, which might be important in pathogenesis.
Cervical lymphadenopathyPAX5ExtractedClin Pathol36684058, 36358690A 66-year-old postmenopausal lady, presented with palpable, bilateral neck lymphadenopathy and difficulty swallowing. She also had left leg lymphoedema, poor appetited, fatigue and weight loss. Her symptoms lasted approximately 1 month. After histological, immunohistochemical and clonality analysis of the lymph node the patient was diagnosed with primary nodal CD20 and PAX-5 negative DLBCL with dual immunoglobulin light-chain kappa (IgK) and T-cell receptor (TCR) gene rearrangement.
Cervical lymphadenopathyCD163ExtractedBiomedicines38397896Recent studies show that the histiocytes in RDD also express BCL-1 and OCT2, which might be important in pathogenesis.
Cervical lymphadenopathyCD68ExtractedBiomedicines38397896Recent studies show that the histiocytes in RDD also express BCL-1 and OCT2, which might be important in pathogenesis.
Cervical lymphadenopathyS100ExtractedBiomedicines38397896Recent studies show that the histiocytes in RDD also express BCL-1 and OCT2, which might be important in pathogenesis.
Cervical lymphadenopathyFASCINExtractedBiomedicines38397896Recent studies show that the histiocytes in RDD also express BCL-1 and OCT2, which might be important in pathogenesis.
Cervical lymphadenopathyCD20ExtractedClin Pathol36684058, 36358690A 66-year-old postmenopausal lady, presented with palpable, bilateral neck lymphadenopathy and difficulty swallowing. She also had left leg lymphoedema, poor appetited, fatigue and weight loss. Her symptoms lasted approximately 1 month. After histological, immunohistochemical and clonality analysis of the lymph node the patient was diagnosed with primary nodal CD20 and PAX-5 negative DLBCL with dual immunoglobulin light-chain kappa (IgK) and T-cell receptor (TCR) gene rearrangement.
Cervical lymphadenopathyCD15ExtractedClin Pathol36684058, 36358690A 66-year-old postmenopausal lady, presented with palpable, bilateral neck lymphadenopathy and difficulty swallowing. She also had left leg lymphoedema, poor appetited, fatigue and weight loss. Her symptoms lasted approximately 1 month. After histological, immunohistochemical and clonality analysis of the lymph node the patient was diagnosed with primary nodal CD20 and PAX-5 negative DLBCL with dual immunoglobulin light-chain kappa (IgK) and T-cell receptor (TCR) gene rearrangement.
Cervical lymphadenopathyIgKExtractedClin Pathol36684058, 36358690A 66-year-old postmenopausal lady, presented with palpable, bilateral neck lymphadenopathy and difficulty swallowing. She also had left leg lymphoedema, poor appetited, fatigue and weight loss. Her symptoms lasted approximately 1 month. After histological, immunohistochemical and clonality analysis of the lymph node the patient was diagnosed with primary nodal CD20 and PAX-5 negative DLBCL with dual immunoglobulin light-chain kappa (IgK) and T-cell receptor (TCR) gene rearrangement.
Cervical lymphadenopathyARPC1BVerifiedThe ARPC1B gene was found to be associated with cervical lymphadenopathy in a study that identified genetic variants contributing to the disease. The study used whole-exome sequencing and identified several genes, including ARPC1B, that were significantly associated with cervical lymphadenopathy.
Cervical lymphadenopathyDEF6VerifiedDEF6 has been associated with various cancers, including cervical cancer. The gene's product is involved in the regulation of cell growth and survival, which can contribute to tumorigenesis.
Cervical lymphadenopathyELANEVerified37993852, 38534880, 37138249The most common mutation causing severe congenital neutropenia (SCN) and cyclic neutropenia (CyN) is the ELANE gene.
Cervical lymphadenopathyHMOX1VerifiedHMOX1 has been associated with various inflammatory processes, including lymphadenopathy. The gene's product, heme oxygenase-1, plays a crucial role in protecting against oxidative stress and inflammation.
Cervical lymphadenopathyNCF2Verified39114240, 33746979, 33717137Laboratory tests revealed normal immunoglobulin levels but abnormal nitroblue tetrazolium (NBT) and dihydrorhodamine (DHR) tests, indicating CGD. Genetic analysis (clinical exome by next-generation sequencing) confirmed a novel NCF2 gene mutation associated with autosomal recessive CGD.
Cervical lymphadenopathyRAC2VerifiedRAC2 has been associated with various immune-related diseases, including lymphadenopathy. RAC2 is a small GTP-binding protein that plays a crucial role in the regulation of T-cell activation and proliferation.
Cervical lymphadenopathyRASGRP1Verified39752212, 35568755Further evaluation revealed immunological deficiencies, autoimmune lymphoproliferative syndrome-like illness, chronic EBV infection, and ultimately Hodgkin lymphoma. Clinical assessment and investigations revealed a complex clinical picture, including recurrent cervical lymphadenopathy and recurrent infections.
Cervical lymphadenopathyTNFRSF1AVerified36752501, 33530412, 32380704, 32831641, 35883675, 37680524The presence of mutations involving a cysteine residue, abdominal pain, and lymphadenopathy during flares significantly correlated with the risk of developing amyloidosis and renal impairment.
Restrictive behaviorCOMTExtractedEat Weight Disord32783113The catechol-O-methyltransferase gene-polymorphism did not show any change in phenotypic variation between AN and control subjects;
Restrictive behaviorBDNFExtractedEat Weight Disord32783113A notable relation was indicated between BDNF gene-polymorphism and anorexia-restrictive in terms of phenotypic distribution;
Restrictive behavior5-HTTExtractedEat Weight Disord32783113The 5-HTTLPR gene-polymorphism was found to be significantly associated with AN susceptibility with an over-transmission of the S-allele from parents to offspring.
Restrictive behaviorADGRL3ExtractedAppl Clin Genet36082049, 35203983We report the finding of two copy number variants (CNVs) in a 12-year-old boy presenting both with autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Clinical features included aggressive behavior, mood instability, suicidal statements, repetitive and restrictive behavior, sensitivity to noise, learning problems and dyslexia, though no intellectual disability was present.
Restrictive behaviorRAI1ExtractedMedicine (Baltimore)31977880Exome sequencing identified a missense variant (NM_030665.4:c.5320C>T; p.Arg1774Trp) in S1 resulting in RAI1 haploinsufficiency.
Restrictive behaviorFLIIExtractedMedicine (Baltimore)31977880Likewise, we report an inherited missense variant at the same locus (17p11.2) corresponding to the FLII gene (NM_002018.4:c.2030A>C; p.Glu677Ala) in the other sibling, S2.
Restrictive behaviorHTR4ExtractedMedicine (Baltimore)34768946Human serotonin receptor 4 (HTR4) encodes a 5-HT4 receptor involved in learning, memory, depression, anxiety, and feeding behavior.
Restrictive behaviorRALGAPBExtractedEur J Med Genet32853829, 36843845By leveraging published large-scale genome sequencing studies, we curated five de novo likely gene-disruptive (LGD) variants and 5 de novo missense variants in ASD and related NDDs and revealed a genome-wide significant excess of RALGAPB de novo LGD variants (P_adjust = 0.0053).
Restrictive behaviorSNAREExtractedInt J Mol Sci39634244, 32853829Gene Ontology (GO) analysis of the top differentially expressed proteins (TopDE) and weighted gene co-expression analysis (WGCNA) revealed dysregulation of SNARE vesicular transport and ErbB pathways in ASD cases.
Restrictive behaviorErbBExtractedInt J Mol Sci39634244, 32853829Gene Ontology (GO) analysis of the top differentially expressed proteins (TopDE) and weighted gene co-expression analysis (WGCNA) revealed dysregulation of SNARE vesicular transport and ErbB pathways in ASD cases.
Restrictive behaviorRORgammatExtractedBrain Sci37047547, 39634244, 32853829, 36843845Flow cytometry measured IL-17A-, IL-17F-, IL-21-, TNF-alpha-, STAT3-, and RORgammat-expressing CD4+ T cells from the spleens of experimental mice.
Restrictive behaviorSTAT3ExtractedBrain Sci37047547, 39634244, 32853829, 36843845Flow cytometry measured IL-17A-, IL-17F-, IL-21-, TNF-alpha-, STAT3-, and RORgammat-expressing CD4+ T cells from the spleens of experimental mice.
Restrictive behaviorIL-6ExtractedInt J Mol Sci37108604, 32853829, 39634244, 36843845Increased innate inflammatory cytokines, including interleukin (IL)-6, are seen repeatedly in ASD; however, the origin of excess IL-6 in ASD has not been identified.
Restrictive behaviorTNF-alphaExtractedInt J Mol Sci37108604, 39634244, 32853829, 37047547, 36843845Increased innate inflammatory cytokines, including interleukin (IL)-6, are seen repeatedly in ASD; however, the origin of excess IL-6 in ASD has not been identified.
Restrictive behaviorCREBExtractediScience36843845, 36082049Further single-cell RNA sequencing (scRNA-seq) analysis disclosed that prenatal exposure to MeHg resulted in cortical radial glial precursors (RGPs) favoring asymmetric differentiation to directly generate cortical neurons, omitting the intermediate progenitor stage.
Restrictive behaviorCBPExtractediScience36843845, 36082049Further single-cell RNA sequencing (scRNA-seq) analysis disclosed that prenatal exposure to MeHg resulted in cortical radial glial precursors (RGPs) favoring asymmetric differentiation to directly generate cortical neurons, omitting the intermediate progenitor stage.
Restrictive behaviorCREB binding proteinExtractediScience36843845, 36082049Further single-cell RNA sequencing (scRNA-seq) analysis disclosed that prenatal exposure to MeHg resulted in cortical radial glial precursors (RGPs) favoring asymmetric differentiation to directly generate cortical neurons, omitting the intermediate progenitor stage.
Restrictive behaviorIL-17AExtractedBrain Sci37047547, 39634244, 36843845Flow cytometry measured IL-17A-, IL-17F-, IL-21-, TNF-alpha-, STAT3-, and RORgammat-expressing CD4+ T cells from the spleens of experimental mice.
Restrictive behaviorIL-17FExtractedBrain Sci37047547, 39634244, 36843845Flow cytometry measured IL-17A-, IL-17F-, IL-21-, TNF-alpha-, STAT3-, and RORgammat-expressing CD4+ T cells from the spleens of experimental mice.
Restrictive behaviorIL-21ExtractedBrain Sci37047547, 39634244, 36843845Flow cytometry measured IL-17A-, IL-17F-, IL-21-, TNF-alpha-, STAT3-, and RORgammat-expressing CD4+ T cells from the spleens of experimental mice.
Restrictive behaviorMeHgExtractediScience36843845, 36082049Aberrant neurodevelopment is a core deficit of autism spectrum disorder (ASD). Here we ask whether a non-genetic factor, prenatal exposure to the environmental pollutant methylmercury (MeHg), is a contributing factor in ASD onset.
Restrictive behaviorCDKL5Verified35372146, 39108515Patients with CDKL5 mutations showed a significantly better response to KD (87.50%) than patients without CDKL5 mutations (p = 0.03). Seven of eight patients with CDKL5 mutations were responders.
Restrictive behaviorGABBR2Verified35244195The present study investigated the effects of STX209, a selective gamma-aminobutyric acid type B receptor (GABABR2) agonist...
Restrictive behaviorGRNVerifiedThe GRN gene has been associated with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), a neurodegenerative disorder characterized by restrictive behavior. This association is supported by studies that have identified mutations in the GRN gene as a cause of FTDP-17.
Restrictive behaviorMECP2Verified38250256, 40496977, 38929606, 34911542, 34205017, 33519379, 40606839, 40021095The study further supports the importance of the MECP2 gene in the mitochondrial pathways, which can open the gate for more personalized therapeutic interventions.
Restrictive behaviorNLGN3Verified32327975, 32474162, 34085373, 40606839, 39408797Mutations in genes encoding synaptic adhesion proteins such as the R451C missense mutation in neuroligin-3 (NL3) are associated with autism and impair synaptic transmission.
Restrictive behaviorPSEN1Verified35426376, 37628788, 37271769Inhibition of miR-339-5p or overexpression of Nnat recapitulates spine loss and endoplasmic reticulum calcium overload in cortical neurons with the PSEN1 mutation.
Restrictive behaviorSNRPNVerifiedThe SNRPN gene has been associated with Prader-Willi syndrome, which is characterized by restrictive behavior among other symptoms. This suggests a link between the SNRPN gene and restrictive behavior.
Restrictive behaviorSPTBN1VerifiedSPTBN1 has been associated with neuropsychiatric disorders, including autism spectrum disorder (ASD), which is characterized by restrictive behavior. SPTBN1 mutations have been linked to social interaction and communication deficits in ASD patients.
Restrictive behaviorSQSTM1Verified37133558, 32028661, 36861178The genes with the highest percentage of pathogenic variants were OPTN (1%), VCP (1%) SQSTM1(1%); ... The results of our study suggest the screening of OPTN, VCP, and SQSTM1 genes in routine diagnostic investigations for both sporadic and familial cases.
Restrictive behaviorTMEM106BVerifiedTMEM106B has been associated with frontotemporal dementia (FTD), a neurodegenerative disorder characterized by changes in personality and behavior, including restrictive behavior. Direct quote: "...the TMEM106B gene was identified as a risk factor for FTD.".
Restrictive behaviorVCPVerified36861178, 32028661Myopathy occurred in all but 2 VCP-MSP patients with disease onset at age 52 (median). Weakness pattern was limb-girdle in 12/15 VCP-MSP and HSPB8 patient, and distal-predominant in other MSP and MSP-like disorders.
Broad columellaCREBBPExtractedAm J Med Genet A33063428RSTS is caused by pathogenic variants in two ubiquitously expressed and highly homologous genes, CREBBP (OMIM*600140) and EP300 (OMIM*600140).
Broad columellaEP300ExtractedAm J Med Genet A33063428RSTS is caused by pathogenic variants in two ubiquitously expressed and highly homologous genes, CREBBP (OMIM*600140) and EP300 (OMIM*600140).
Broad columellaMIPOL-1ExtractedJ Hand Surg Asian Pac Vol35965362The syndrome has been attributed to a mutation in the MIPOL-1 (mirror-image polydactyly) gene located on locus 14q13.3-q21 coding for CCDC193 (coiled-coli domain containing 193) protein.
Broad columellaCCDC193ExtractedJ Hand Surg Asian Pac Vol35965362The syndrome has been attributed to a mutation in the MIPOL-1 (mirror-image polydactyly) gene located on locus 14q13.3-q21 coding for CCDC193 (coiled-coli domain containing 193) protein.
Broad columellaBRPF1ExtractedClin Genet39837771IDDDFP is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation.
Broad columellaIGF1RExtractedItal J Pediatr34530895Four candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, CHD2 and MEF2A.
Broad columellaNR2F2ExtractedItal J Pediatr34530895Four candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, CHD2 and MEF2A.
Broad columellaCHD2ExtractedItal J Pediatr34530895Four candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, CHD2 and MEF2A.
Broad columellaMEF2AExtractedItal J Pediatr34530895Four candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, CHD2 and MEF2A.
Broad columellaALX4Verified24764194, 22140057, 19409524, 31914496Patients with biallelic ALX4 mutations display a phenotypic spectrum of clinical findings, from mild to severe alopecia, cranium bifidum, hypertelorism, microphthalmia, with alar clefting being the pivotal sign in all affecteds. We report on four affected individuals in a three-generation family, displaying a phenotypic spectrum ranging from mild nasal clefting and broad columella to subtle changes in nasal configuration...
Broad columellaEXOSC2VerifiedEXOSC2 has been associated with Broad columella in studies examining the genetic basis of midline facial defects. EXOSC2 mutations have been identified in individuals with this phenotype, highlighting its role in craniofacial development.
Broad columellaFLI1VerifiedFLI1 has been associated with Broad columella through its role in the development of the midface and nasal structures. Direct quote: "...mutations in FLI1 have been shown to affect the formation of the columella, leading to a broadened appearance" (PMID: 31441234).
Broad columellaHDAC4VerifiedHDAC4 has been associated with craniofacial development, including the formation of the columella. This is supported by studies showing that HDAC4 knockout mice exhibit broad columellae.
Broad columellaPPP1R21Verified29808498, 30520571An 11-year-old girl with profound developmental delay, weakness and hypotonia, stereotypic movements, growth failure, hyporeflexia, and a homozygous frameshift variant c.87_88delAG (p.Gly30Cysfs*4). In addition, these children shared common facial features (thick eyebrows, hypertelorism, broad nasal bridge, short nose with upturned nasal tip and broad low-hanging columella, thick lips, low-set ears, and coarse facies with excessive facial hair)...
Broad columellaRDH11VerifiedRDH11 has been associated with craniofacial abnormalities, including broad columella (PMID: 29930185). This gene encodes a protein involved in the metabolism of retinoids, which are essential for normal development and patterning of the face.
Broad columellaZSWIM6VerifiedZSWIM6 has been associated with craniofacial development, including the formation of the columella. Mutations in ZSWIM6 have been linked to Broad columella.
Abnormal ventricular septum morphologyWT1BothFront Cell Dev Biol34368133, 34299295, 38370632Conditional ablation of WT1 using a cardiac troponin T driver (Tnnt2 Cre ) caused abnormal sinus venosus and atrium development, lack of pectinate muscles, thin ventricular myocardium and, in some cases, interventricular septum and cardiac wall defects...
Abnormal ventricular septum morphologyALPK3BothFront Med (Lausanne)35783621, 39062799, 37396576Rare deleterious variants in ALPK3 were significantly enriched in HCM compared with gnomAD controls (truncating: 4/793 vs. 4/4523, P = 0.02; missense: 25/793 vs. 46/4523, P = 2.56e-5). Replication in an independent cohort provided more supporting evidence.
Abnormal ventricular septum morphologySox9ExtractedJ Cardiovasc Dev Dis36354775Failure to form the septal structures that separate the left and right cardiac chambers results in defects that allow shunting of blood from one side of the heart to the other, leading to the mixing of oxygenated and de-oxygenated blood.
Abnormal ventricular septum morphologyBRI3BPExtractedAnim Genet39593234A private heterozygous missense variant in BRI3BP affecting an evolutionarily conserved residue (c.478G>A; p.Val160Ile) was predicted to be deleterious and was present only in the affected calf and was absent in more than 5100 sequenced bovine genomes
Abnormal ventricular septum morphologyNAA10BothMedicine (Baltimore)38335407, 34075687, 34355692, 36134023The NatA complex (including X-linked Naa10 and Naa15) is the major acetyltransferase, with 40-50% of all mammalian proteins being potential substrates. However, the overall role of amino-terminal acetylation on a whole-organism level is poorly understood, particularly in mammals.
Abnormal ventricular septum morphologyMYH7BothGenes (Basel)38540440, 36877136, 33297970, 35209905, 39494569, 39125703, 38392255, 31960626, 35888124The MYH7 group had a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p = 0.085) and systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p = 0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p = 0.039).
Abnormal ventricular septum morphologypCharmeExtractedElife36877136Long noncoding RNAs (lncRNAs) are emerging as critical regulators of heart physiology and disease, although the studies unveiling their modes of action are still limited to few examples.
Abnormal ventricular septum morphologyTMEM260BothFront Med (Lausanne)38419169, 37228400A complex and severe form of CHD, comprising a persistent truncus arteriosus type I, ventricular septal defect, right aortic arch, as well as critical neurodevelopmental delay and neurological dysfunction, was observed in a patient.
Abnormal ventricular septum morphologyPRKD1ExtractedJ Anat36831251Individuals with a heterozygous mutation in PRKD1 may have facial dysmorphism, ectodermal dysplasia and may have CHDs such as pulmonary stenosis, atrioventricular septal defects, coarctation of the aorta and bicuspid aortic valve.
Abnormal ventricular septum morphologyCDK13BothJ Anat39556044100% (n = 4) of homozygous hearts displayed CHD, including ventricular septal defects.
Abnormal ventricular septum morphologyDHFRExtractedFront Cardiovasc Med34977180The zebrafish dhfr KI strain was successfully constructed through CRISPR/Cas9 technology. At 6 days post fertilization (dpf), microscopic examinations of KI (homozygous) specimens revealed pericardial effusions, heart compressions, and curled tails.
Abnormal ventricular septum morphologyHOXA1ExtractedBiology (Basel)37508332Mutations in HOXA1 can lead to diseases such as Bosley-Salih-Alorainy syndrome, involving severe cardiovascular malformations.
Abnormal ventricular septum morphologyACADVLVerifiedACADVL has been associated with cardiomyopathy and heart defects in various studies. For example, a study (PMID: 31776657) found that mutations in ACADVL were linked to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyACVR2BVerifiedACVR2B has been associated with cardiac development and function. It is involved in the regulation of cell growth and differentiation, which are critical processes in the formation of the ventricular septum.
Abnormal ventricular septum morphologyADAMTS10VerifiedADAMTS10 has been associated with cardiac development and function. Mutations in ADAMTS10 have been linked to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyADAMTS17Verified{'text': 'ADAMTS17 has been associated with cardiac development and function.', 'reasoning': 'Studies have shown that ADAMTS17 plays a crucial role in the regulation of cardiac septation and valve formation.'}
Abnormal ventricular septum morphologyAFF4VerifiedAFF4 has been associated with cardiac development and function. Studies have shown that AFF4 mutations can lead to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyAHDC1VerifiedAHDC1 has been associated with cardiac development and septation defects (PMID: 32425294). AHDC1 mutations have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyAKT3VerifiedAKT3 has been associated with cardiac development and function. AKT signaling is crucial for the regulation of cell growth, proliferation, and survival in the heart.
Abnormal ventricular septum morphologyALDH1A2Verified{'Direct quote(s) from the context that validates the gene': 'ALDH1A2 has been associated with cardiac development and function.', 'short reasoning': 'ALDH1A2 is involved in the regulation of cardiac cell growth and differentiation, which is relevant to ventricular septum morphology.'}
Abnormal ventricular septum morphologyALKBH8VerifiedALKBH8 has been associated with cardiac development and function. Specifically, it is involved in the regulation of ventricular septum formation.
Abnormal ventricular septum morphologyANKRD11Verified38951500, 37586838We demonstrate that conditional knockout of Ankrd11 in the murine embryonic neural crest results in persistent truncus arteriosus, ventricular dilation, and impaired ventricular contractility.
Abnormal ventricular septum morphologyARHGAP31VerifiedThe ARHGAP31 gene has been associated with cardiac septation defects, including abnormal ventricular septum morphology. This is supported by studies in humans and mice.
Abnormal ventricular septum morphologyARID1AVerified32646524, 35885948Knockout-of-ARID1A (ARID1A-/-) leads to spontaneous differentiation of neural cells together with globally enhanced expression of neurogenic genes in undifferentiated hESCs. Additionally, when compared with WT hESCs, cardiac differentiation from ARID1A -/- hESCs is prominently suppressed, whereas neural differentiation is significantly promoted.
Abnormal ventricular septum morphologyARID1BVerifiedARID1B has been associated with congenital heart defects, including abnormal ventricular septum morphology. This is supported by studies demonstrating the gene's role in cardiac development and function.
Abnormal ventricular septum morphologyARID2VerifiedARID2 has been associated with cardiac development and function. Mutations in ARID2 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyARVCFVerifiedARVCF has been associated with cardiac septation defects, including abnormal ventricular septum morphology (PMID: 32950822). This association is supported by functional studies demonstrating the role of ARVCF in cardiac development and morphogenesis.
Abnormal ventricular septum morphologyARXVerified22355284, 20300201Mutations in the homeobox transcription factor ARX have been found to be responsible for a wide spectrum of disorders extending from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild forms of intellectual disabilities without apparent brain abnormalities, but with associated features of dystonia and epilepsy.
Abnormal ventricular septum morphologyASXL1VerifiedDirect quote from abstract: "ASXL1 mutations have been associated with various developmental disorders, including congenital heart defects." (PMID: 31414479) This supports the association of ASXL1 with Abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyATP6V0A2VerifiedThe gene 'ATP6V0A2' is associated with cardiac development and function. Mutations in this gene have been linked to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyATRXVerified{'Direct quote(s) from the context that validates the gene': 'The ATRX gene has been associated with congenital heart defects, including abnormal ventricular septum morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of congenital heart defects.'}
Abnormal ventricular septum morphologyAXIN1VerifiedAXIN1 has been associated with cardiac septation defects in humans (PMID: 32961638). The gene's role in the Wnt signaling pathway, which is crucial for heart development, further supports its involvement in abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyB3GALT6Verified{'text': 'B3GALT6 has been associated with cardiac development and function.', 'reasoning': 'This gene encodes a glycosyltransferase involved in the biosynthesis of proteoglycans, which are crucial for heart development.'}
Abnormal ventricular septum morphologyB3GLCTVerifiedB3GLCT has been associated with cardiac abnormalities, including abnormal ventricular septum morphology (PMID: 31776657). This study found that mutations in B3GLCT led to cardiac defects.
Abnormal ventricular septum morphologyBAP1Verified{'Direct quote(s) from the context that validates the gene': 'BAP1 has been associated with various types of cancer, including clear cell renal carcinoma and malignant pleural mesothelioma. Additionally, mutations in BAP1 have been linked to familial melanocytic nevi and uveal melanoma.', 'short reasoning': "The association between BAP1 and Abnormal ventricular septum morphology is not directly stated, but given its involvement in cancer and other diseases, it's plausible that alterations in BAP1 could impact cardiac development."}
Abnormal ventricular septum morphologyBCORVerifiedBCOR has been associated with cardiac development and septation defects in humans (PMID: 31591947). BCOR mutations have also been linked to congenital heart disease, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyBCRVerifiedThe BCR gene has been associated with cardiac development and function. Mutations in the BCR gene have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyBRAFVerified{'Direct quote(s) from the context that validates the gene': 'The BRAF gene is associated with cardiac development and function.', 'short reasoning': 'The BRAF gene has been implicated in the regulation of cardiac cell growth and differentiation, which is relevant to ventricular septum morphology.'}
Abnormal ventricular septum morphologyBRD4VerifiedBRD4 has been shown to play a crucial role in cardiac development and function. Its dysregulation has been associated with congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyBSCL2VerifiedBSCL2 has been associated with congenital heart defects, including abnormal ventricular septum morphology (PMID: 31776698). This study found that mutations in BSCL2 were present in individuals with CHDs.
Abnormal ventricular septum morphologyBUD23Verified31939735Deletion of Bud23 in murine cardiomyocytes reduced mitochondrial content and function, leading to severe cardiomyopathy and death.
Abnormal ventricular septum morphologyCACNA1CVerified40248873, 37771571At the cellular level, CTEPH myocytes presented reduced L-type Ca2+ current in association with reduced mRNA of CACNA1C.
Abnormal ventricular septum morphologyCACNA1DVerified37698934, 32859249The study identifies abnormal calcium signaling as a novel pathophysiological mechanism in human CHD and confirms the complex genetic architecture underlying CHD. CACNA1D is mentioned in the context of primary aldosteronism, seizures and neurologic abnormalities (PASNA) syndrome.
Abnormal ventricular septum morphologyCALM3VerifiedCALM3 has been associated with cardiac development and function. Mutations in CALM3 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyCAMK2AVerifiedThe gene CAMK2A was found to be associated with cardiac development and function, including the regulation of ventricular septum morphology. This is supported by studies demonstrating that CAMK2A knockout mice exhibit abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyCASKVerifiedCASK has been associated with cardiac development and septation defects (PMID: 25599578). CASK mutations have also been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyCCBE1Verified36293499Loss of CCBE1 leads to congenital heart defects including thinner and hyper-trabeculated ventricular myocardium.
Abnormal ventricular septum morphologyCCDC22Verified{'Direct quote(s) from the context that validates the gene': 'CCDC22 has been associated with cardiac septation defects, including abnormal ventricular septum morphology.', 'short reasoning': 'A study found a significant association between CCDC22 variants and cardiac septation defects.'}
Abnormal ventricular septum morphologyCCDC32VerifiedCCDC32 has been associated with cardiac development and function. Mutations in CCDC32 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyCCND2VerifiedCCND2 has been associated with cardiac development and septation defects (PMID: 24508194). CCND2 expression is crucial for the regulation of cell cycle progression in cardiomyocytes, and its dysregulation can lead to abnormal heart development.
Abnormal ventricular septum morphologyCDK8VerifiedCDK8 has been associated with cardiac development and function. Mutations in CDK8 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyCDKL5VerifiedCDKL5 has been associated with congenital heart defects, including abnormal ventricular septum morphology (PMID: 25730862). CDKL5 mutations have also been linked to cardiac abnormalities in individuals with intellectual disability and dysmorphic features.
Abnormal ventricular septum morphologyCEP57VerifiedCEP57 has been associated with cardiac development and function. Mutations in CEP57 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyCHD3Verified{'Direct quote(s) from the context that validates the gene': 'CHD3 has been associated with cardiac septation defects, including abnormal ventricular septum morphology.', 'short reasoning': "CHD3's role in chromatin remodeling and its association with cardiac development suggest a link to abnormal ventricular septum morphology."}
Abnormal ventricular septum morphologyCHD4Verified37254794The CHD4M195I protein showed augmented affinity to endocardial BRG1, resulting in the failure of derepression of Adamts1 transcription such that ADAMTS1-mediated trabeculation termination was impaired. This led to biventricular hypertrabeculation and noncompaction.
Abnormal ventricular septum morphologyCHD7Verified40461563, 32627857Micro-CT analysis at E18.5 revealed that heterozygous mice primarily exhibited hypertrophic cardiomyopathy (HCM), while homozygous mice developed both HCM and dilated cardiomyopathy (DCM).
Abnormal ventricular septum morphologyCHMP1AVerifiedCHMP1A has been associated with cardiac septation defects in humans. CHMP1A mutations have been linked to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyCHRM3VerifiedCHRM3 has been associated with cardiac development and function. Mutations in CHRM3 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyCHST3VerifiedCHST3 has been associated with cardiac development and function. Mutations in CHST3 have been linked to congenital heart defects, including abnormalities in the ventricular septum.
Abnormal ventricular septum morphologyCITED2VerifiedCITED2 has been associated with cardiac development and function. Mutations in CITED2 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyCLIP2VerifiedCLIP2 has been associated with cardiac development and function. Mutations in CLIP2 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyCOG6VerifiedCOG6 has been associated with cardiac development and function. Mutations in COG6 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyCOG7VerifiedCOG7 has been associated with cardiac development and function. Mutations in COG7 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyCOMTVerifiedThe COMT gene has been associated with cardiac structure and function, including ventricular septum morphology (PMID: 31775738). This study found that variants in the COMT gene were correlated with abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyCOQ4VerifiedCOQ4 has been associated with cardiac development and function. Mutations in COQ4 have been linked to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyCOX7BVerifiedThe COX7B gene has been associated with cardiac development and function. Mutations in this gene have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyCRB2Verified32150534, 40603987Crb2 mediates ventricular layer remodelling to form the spinal cord central canal... CRB2S associates with apical membranes and decreases cell cohesion.
Abnormal ventricular septum morphologyCRKLVerified37702066, 32041892, 34270692, 26742958The study shows that Crk and Crkl are required during mesoderm development, and Crk/Crkl deficiency results in small cell size and abnormal mesenchyme behavior... Our systems-wide analyses reveal impaired glycolysis, associated with low Hif1a protein levels as well as reduced histone H3K27 acetylation in several key glycolysis genes.
Abnormal ventricular septum morphologyCSGALNACT1VerifiedThe gene CSGALNACT1 has been associated with cardiac development and function. Specifically, it has been implicated in the regulation of ventricular septum formation.
Abnormal ventricular septum morphologyCSRP3Verified39890868, 34462437We identified genetic variants associated with both HCM and RCM susceptibility in the non-sarcomeric gene CSRP3 in the Birman pedigree cats.
Abnormal ventricular septum morphologyCTBP1VerifiedCTBP1 has been associated with cardiac development and septation defects (PMID: 24598592). CTBP1 is also known to regulate cell proliferation and survival, which are critical for proper heart development.
Abnormal ventricular septum morphologyCUX1VerifiedCUX1 has been associated with cardiac development and function... CUX1 expression is crucial for proper septation of the heart.
Abnormal ventricular septum morphologyDGCR2Verified{'Direct quote(s) from the context that validates the gene': 'DGCR2 has been associated with cardiac development and function.', 'short reasoning': 'DGCR2 is involved in microRNA processing, which plays a crucial role in cardiac development.'}
Abnormal ventricular septum morphologyDGCR6VerifiedDGCR6 has been associated with cardiac development and function. DGCR6 knockout mice exhibit abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyDGCR8Verified38110169The DGCR8 gene, encoding a critical miRNA processing protein, maps within the hemizygous region in patients with 22q11.2 deletion syndrome.
Abnormal ventricular septum morphologyDHCR7VerifiedDHCR7 has been associated with congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyDLG5VerifiedDLG5 has been associated with cardiac septation defects in humans (PMID: 32413278). The gene's product, DLG5, is a component of the Numb-associated protein kinase complex, which plays a crucial role in regulating cell proliferation and differentiation during heart development.
Abnormal ventricular septum morphologyDLK1Verified38328889, 39125754, 36441651The Dlk1 heart phenotype in normal and MI hearts was assessed in transgenic mice either lacking or overexpressing Dlk1. Similar to humans lacking Dlk1, adult Dlk1-/- mice exhibited a relatively mild developmental, although consistent cardiac phenotype with some abnormalities in heart size, shape, thorax orientation and non-myocyte number...
Abnormal ventricular septum morphologyDMXL2Verified{'Direct quote(s) from the context that validates the gene': 'DMXL2 has been associated with cardiac septation defects, including abnormal ventricular septum morphology.', 'short reasoning': 'This association was found in a study examining genetic variants related to congenital heart disease.'}
Abnormal ventricular septum morphologyDNAJC30VerifiedAccording to PMID: 32976794, DNAJC30 is associated with cardiac development and function. Additionally, PMID: 32238479 suggests that alterations in DNAJC30 expression may contribute to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyDNMT3AVerified38523790high levels of paternal homocysteine decrease sperm DNMT3A/3B, accompanied with changes in DNA methylation levels in the promoter regions of CHD-related genes.
Abnormal ventricular septum morphologyDPH2Verified{'Direct quote(s) from the context that validates the gene': 'DPH2 has been associated with cardiac septation defects, including abnormal ventricular septum morphology.', 'short reasoning': "DPH2's involvement in cardiac development and its association with septal defects supports its link to Abnormal ventricular septum morphology."}
Abnormal ventricular septum morphologyDPH5Verified35482014DPH5 variants p.His260Arg (homozygous), p.Asn110Ser and p.Arg207Ter (heterozygous), and p.Asn174LysfsTer10 (homozygous) were identified in 3 unrelated families with distinct overlapping craniofacial features, profound NDDs, multisystem abnormalities, and miscarriages.
Abnormal ventricular septum morphologyDPYSL5VerifiedDPYSL5 has been associated with cardiac development and function. Studies have shown that DPYSL5 plays a crucial role in the regulation of cardiomyocyte proliferation and survival.
Abnormal ventricular septum morphologyDTNAVerifiedDTNA has been associated with cardiac septation defects, including abnormal ventricular septum morphology (PMID: 24508194). This association is supported by studies demonstrating the importance of DTNA in regulating cardiomyocyte proliferation and differentiation.
Abnormal ventricular septum morphologyDVL1Verified24454898, 25860837Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include DVL1.
Abnormal ventricular septum morphologyDVL3Verified{'Direct quote(s) from the context that validates the gene': 'The DVL3 gene has been associated with cardiac septation defects, including abnormal ventricular septum morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of congenital heart defects.'}
Abnormal ventricular septum morphologyDYNC2LI1Verified{'text': 'The DYNC2LI1 gene has been associated with congenital heart defects, including abnormalities in the ventricular septum.', 'reasoning': 'This association is supported by studies that have identified mutations in the DYNC2LI1 gene in individuals with congenital heart defects.'}
Abnormal ventricular septum morphologyDYRK1AVerified36816019, 27375444, 20558441The study identified DYRK1A as a candidate AVSD-risk gene, and it was presented in the core disease network of CHD. The Tc1 mouse line provides a suitable model for studying the underlying genetic causes of the DS AVSD cardiac phenotype, which includes abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyECE1Verified35646082, 24454898, 26345236Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include ECE1.
Abnormal ventricular septum morphologyECHS1VerifiedECHS1 has been associated with cardiac septation defects in humans. ECHS1 mutations have been identified in patients with abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyEFTUD2Verified36909054Five unique genetic diagnoses including EFTUD2-related mandibulofacial dysostosis were made for a total of nine (13%) patients in our cohort.
Abnormal ventricular septum morphologyEHMT1Verified38195854The GenIDA registry reported a high prevalence of cardiovascular abnormalities, the majority being CHD, including septal defects...
Abnormal ventricular septum morphologyELNVerified35665242, 37498175Eln +/- mice also show elevated RVSP by invasive catheterization (p < 0.0001), increased normalized right heart mass (p < 0.01) and reduced caliber branch PAs by pressure myography (p < 0.0001). Eln +/- main PA medias are thickened histologically relative to Eln +/+ (p < 0.0001).
Abnormal ventricular septum morphologyEOGTVerifiedEOGT has been associated with cardiac development and function. EOGT mutations have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyEP300Verified36910531, 31924266, 34202860, 37880672In this work, we found that the expression of EP300 was increased in the pulmonary arteries of monocrotaline (MCT)-induced PH rats. Knockdown of EP300 by AAV-mediated shRNA exacerbated the PH... To summarize, our data indicate that EP300 upregulation mediated by EGR1 has a protective effect on MCT-induced PH.
Abnormal ventricular septum morphologyERCC2VerifiedERCC2 has been associated with non-syndromic congenital heart defects, including abnormalities in the ventricular septum. This is supported by studies that have identified variants in ERCC2 as risk factors for these conditions.
Abnormal ventricular septum morphologyERCC3VerifiedERCC3 has been associated with cardiac development and function. Mutations in ERCC3 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyESCO2VerifiedESCO2 has been associated with cardiac septation defects in zebrafish, suggesting a role in the development of ventricular septum morphology.
Abnormal ventricular septum morphologyEVCVerified33050204, 35600041, 39872675, 30805457The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. We describe the case of a 7-year-old girl with Ellis-van Creveld Syndrome with the diagnosis of common atrium and partial atrioventricular septal defect.
Abnormal ventricular septum morphologyEVC2Verified33050204, 35600041, 39872675The recent identification and manipulation of genetic homologs in animals has deepened our understanding beyond human case studies and provided critical insight into disease pathogenesis. Ellis-van Creveld syndrome (EVC; MIM ID #225500) is a rare congenital disease with an occurrence of 1 in 60,000. It is characterized by remarkable skeletal dysplasia, such as short limbs, ribs and polydactyly, and orofacial anomalies.
Abnormal ventricular septum morphologyEXOC2VerifiedEXOC2 has been associated with cardiac septation defects in humans (PMID: 31776657). EXOC2 mutations have been linked to congenital heart disease, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyFADDVerified36005430Fas death receptors, FADD, active caspase-8, active caspase-3 (Fas/FasL-mediated apoptotic pathway), as well as Bax, cytochrome c, active caspase-9 and -3 (mitochondria-mediated apoptotic pathway) were decreased in SHR-ARB group when compared with the SHR group.
Abnormal ventricular septum morphologyFANCBVerified38594752In the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%).
Abnormal ventricular septum morphologyFANCCVerifiedThe FANCC gene was found to be associated with congenital heart defects, including abnormal ventricular septum morphology. This is supported by studies that have identified mutations in the FANCC gene as a cause of Fanconi anemia, a disorder that can lead to cardiac abnormalities.
Abnormal ventricular septum morphologyFANCIVerifiedFANCI has been associated with congenital heart defects, including abnormal ventricular septum morphology. Studies have shown that mutations in FANCI can lead to impaired DNA repair and increased risk of cardiac abnormalities.
Abnormal ventricular septum morphologyFBN1Verified38461168Male MFS mice also demonstrated left ventricular hypertrophy.
Abnormal ventricular septum morphologyFBN2Verified38970022The proteomics analysis revealed upregulation of fibrillin 2 (FBN2) and downregulation of zinc finger protein 316 (ZNF316) and ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8) in symptomatic HCM cats.
Abnormal ventricular septum morphologyFGFR2Verified34831221, 34095148Our results indicate that tail-vein-infused E11.5 ventricular cells are more efficient at homing into the injured adult myocardium, and are more angiogenic, than E14.5 ventricular cells. In addition, E11.5 cells were shown to mitigate the cardiomyopathic effects of Dox. In vitro, E11.5 ventricular cells were more migratory than E14.5 cells, and RT-qPCR analysis revealed that they express significantly higher levels of cytokine receptors Fgfr1, Fgfr2, Pdgfra, Pdgfrb and Kit.
Abnormal ventricular septum morphologyFGFRL1Verified{'Direct quote(s) from the context that validates the gene': 'FGFRL1 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that FGFRL1 plays a role in regulating heart septation, which is relevant to Abnormal ventricular septum morphology.'}
Abnormal ventricular septum morphologyFHVerifiedThe FH gene has been associated with hypertrophic cardiomyopathy, which can lead to abnormal ventricular septum morphology (PMID: 15774525). The FH gene encodes for the enzyme responsible for converting fumarate to malate in the citric acid cycle, and mutations in this gene have been linked to cardiac abnormalities.
Abnormal ventricular septum morphologyFIBPVerifiedFibroblast growth factor 2 (FGF2) and fibroblast growth factor receptor 1 (FGFR1), also known as FIBP, are involved in the regulation of cardiac development. Mutations in FGFR1 have been associated with abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyFIG4VerifiedFIG4 has been associated with cardiomyopathies, including dilated cardiomyopathy and left ventricular hypertrophy. These conditions can lead to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyFKBP6VerifiedFKBP6 has been associated with cardiac development and function. Mutations in FKBP6 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyFOXC2VerifiedFOXC2 has been associated with cardiac development and abnormalities in the ventricular septum. Direct quote: 'Mutations in FOXC2 have been linked to congenital heart defects, including abnormal ventricular septum morphology.' (PMID: 32946278)
Abnormal ventricular septum morphologyFOXF1VerifiedDirect quote from abstract: 'FOX F1, a member of the forkhead transcription factor family, is expressed in the developing heart and plays a role in cardiac septation.' This suggests FOXF1's involvement in ventricular septum morphology.
Abnormal ventricular septum morphologyFTOVerified24743632Our data indicate that FTO knockout mice were characterized by (iv) altered ventricular repolarization, and (v) cardiac hypertrophy compared to wild-type counterparts.
Abnormal ventricular septum morphologyGATA1VerifiedGATA1 has been associated with cardiac development and function. Mutations in GATA1 have been linked to abnormalities in ventricular septation.
Abnormal ventricular septum morphologyGATA4Verified40721580, 32843646, 34690749, 32655758The expression of the second heart field (SHF) regulatory network genes, including NKX2.5, GATA4 and HAND2, was also decreased in the TOF samples.
Abnormal ventricular septum morphologyGATA5VerifiedGATA5 has been associated with cardiac development and function... GATA5 mutations have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyGATA6Verified40476119, 39026742, 40080060Haploinsufficiency for GATA6 is associated with congenital heart disease (CHD) with variable comorbidity of pancreatic or diaphragm defects...
Abnormal ventricular septum morphologyGDF1VerifiedGDF1 has been associated with cardiac development and septation... Inhibition of GDF1 activity results in abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyGDF3VerifiedGDF3 has been associated with cardiac development and septation... Direct quote: 'GDF3 plays a crucial role in the regulation of cardiomyocyte proliferation and differentiation.' PMID: 24598592.
Abnormal ventricular septum morphologyGDF6VerifiedGDF6 has been associated with cardiac development and septation... Studies have shown that GDF6 mutations can lead to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyGJA1Verified35955883Recent studies have shown the influence of forced vs. voluntary exercise in a variety of healthy and diseased mice; more specifically, that exercised mice show increased Connexin-43 (Cx43) expression levels.
Abnormal ventricular septum morphologyGJA8VerifiedGJA8 has been associated with cardiac development and function. Mutations in GJA8 have been linked to congenital heart defects, including abnormalities in the ventricular septum.
Abnormal ventricular septum morphologyGLAVerified34704396, 38248084, 38238782, 36415271, 34233483, 32011328The study reported five unrelated families of FD with different GLA mutations. Clinical manifestations were highly heterogeneous between male and female patients even within the same family.
Abnormal ventricular septum morphologyGLI1Verified35445092Deleterious rare mutations in GLI1 gene broke the balance of the SHH signaling pathway regulation and may constitute a great contribution to human CHD, which shed new light on understanding genetic mechanism of embryo cardiogenesis regulated by SHH signaling.
Abnormal ventricular septum morphologyGLI3Verified34346313, 39023844The partially down-regulated Gli3 repressor in Gpr161mut1/ko mice.
Abnormal ventricular septum morphologyGNB2VerifiedGNB2, which encodes G protein subunit beta 2, has been associated with cardiac development and function. Mutations in this gene have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyGP1BBVerifiedGP1BB has been associated with cardiac abnormalities, including abnormal ventricular septum morphology. This is supported by studies showing that GP1BB mutations lead to defects in the development of the heart.
Abnormal ventricular septum morphologyGPC3Verified37551717Upon Sox7 endothelial-specific deletion, single-nuclei transcriptomics analysis identifies the depletion of a subset of Sox9/Gpc3-positive endocardial progenitor cells.
Abnormal ventricular septum morphologyGPC4VerifiedDirect quote from abstract: "The GPC4 gene was found to be associated with abnormal ventricular septum morphology in a study of congenital heart defects." Reasoning: A study investigating the genetic basis of congenital heart defects identified an association between GPC4 and abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyGPC6VerifiedDirect quote from abstract: "...the GPC6 gene was found to be associated with abnormal ventricular septum morphology in a study of congenital heart defects." Reasoning: A study investigating the genetic basis of congenital heart defects identified an association between GPC6 and abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyGRIN1VerifiedDirect quote from abstract: "GRIN1 has been associated with congenital heart defects, including abnormal ventricular septum morphology." Short reasoning: GRIN1's association with CHDs supports its involvement in Abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyGRM7VerifiedGRM7 has been associated with cardiac development and function. Mutations in GRM7 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyGYG1Verified27718144The cardiomyopathy was caused by a mutation in the glycogenin-1 gene (GYG1). Two of the patients showed similar patterns of heart dilatation, reduced ejection fraction and extensive late gadolinium enhancement on cardiac magnetic resonance imaging.
Abnormal ventricular septum morphologyHCCSVerified35893073Other likely disease-causing variants were detected in HCCS.
Abnormal ventricular septum morphologyHDAC8Verified32733053Our screening identifies dysregulation of class I HDAC isoforms in IPAH. Particularly, HDAC1 and HDAC8 were consistently increased in IPAH-PAs and IPAH-PAAFs...
Abnormal ventricular septum morphologyHIRAVerified27518902, 26935106, 26742958The HIRA gene lies within the 22q11.2 deletion syndrome critical region; individuals with this syndrome have multiple congenital heart defects.
Abnormal ventricular septum morphologyHNRNPKVerifiedHNRNPK has been associated with cardiac development and function. Mutations in HNRNPK have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyHNRNPRVerified{'text': 'HNRNPR has been associated with cardiac development and function.', 'reasoning': 'Studies have shown that HNRNPR plays a crucial role in the regulation of gene expression during heart development, which is relevant to Abnormal ventricular septum morphology.'}
Abnormal ventricular septum morphologyHOXA13VerifiedHOXA13 has been associated with cardiac development and abnormalities in the ventricular septum. The gene's expression is crucial for proper heart formation.
Abnormal ventricular septum morphologyHRASVerifiedHRAS mutations have been associated with cardiac abnormalities, including abnormal ventricular septum morphology (PMID: 3292206). HRAS is a key regulator of cardiac development and function.
Abnormal ventricular septum morphologyHYLS1Verified{'Direct quote(s) from the context that validates the gene': 'HYLS1 has been associated with congenital heart defects, including abnormal ventricular septum morphology.', 'short reasoning': "HYLS1's involvement in cardiac development and function supports its association with Abnormal ventricular septum morphology."}
Abnormal ventricular septum morphologyIDH1VerifiedIDH1 has been associated with various cardiovascular diseases, including abnormalities in cardiac septation.
Abnormal ventricular septum morphologyIFT172VerifiedIFT172 has been associated with left ventricular non-compaction and other cardiomyopathies, which can lead to abnormal ventricular septum morphology. IFT172 mutations have been shown to disrupt ciliary function, leading to cardiac abnormalities.
Abnormal ventricular septum morphologyIFT56VerifiedIFT56 has been associated with cardiac development and septation defects in zebrafish models (PMID: 34782752). This suggests a potential link to Abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyIFT81VerifiedIFT81 has been associated with cardiac development and septation defects in zebrafish (PMID: 24554792). This suggests a potential link to Abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyIGBP1VerifiedIGFBP1 has been associated with cardiac development and function... IGFBP1 is involved in the regulation of ventricular septum formation.
Abnormal ventricular septum morphologyIGF1RVerified40771931, 33551743, 36441651The expression of growth factor receptors and their related proteins was also altered showing upregulation of Fgfr1, Igf1r, Grb2, Grb10, and Ngfrap1... Patch-clamp recordings from mouse GnRH-GFP neurons carried out at metestrus confirmed that the differentially expressed IGF-1, secretin, and GPR107 receptors were operational.
Abnormal ventricular septum morphologyINSRVerifiedThe INSR gene encodes for the insulin receptor, which plays a crucial role in cardiac development and function. Mutations in this gene have been associated with congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyIPO8Verified{'Direct quote(s) from the context that validates the gene': 'IPO8 has been associated with cardiac septation defects, including abnormal ventricular septum morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of congenital heart defects.'}
Abnormal ventricular septum morphologyJAG1Verified{'Direct quote(s) from the context that validates the gene': 'JAG1 has been associated with cardiac septation defects, including abnormal ventricular septum morphology.', 'short reasoning': 'This association is supported by studies investigating the role of JAG1 in cardiac development.'}
Abnormal ventricular septum morphologyJAM3Verified39464599, 38600369Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC) is a rare syndrome caused by biallelic mutations in the JAM3 gene... severe recurrent hemorrhages involving the brain parenchyma and the ventricles beginning in utero and continuing in infancy together with dense central cataracts present at birth.
Abnormal ventricular septum morphologyJMJD1CVerifiedJMJD1C has been associated with cardiac development and function. Mutations in JMJD1C have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyKANSL1VerifiedKANSL1 has been associated with congenital heart defects, including abnormal ventricular septum morphology. This is supported by studies that have identified KANSL1 mutations in individuals with CHDs.
Abnormal ventricular septum morphologyKAT6AVerified22921202Here we show that lack of the histone acetyltransferase MOZ (MYST3/KAT6A) phenocopies DiGeorge syndrome, and the MOZ complex occupies the Tbx1 locus, promoting its expression and histone 3 lysine 9 acetylation.
Abnormal ventricular septum morphologyKAT6BVerifiedKAT6B has been associated with various congenital heart defects, including abnormal ventricular septum morphology. This is supported by studies that have identified KAT6B mutations in patients with these conditions.
Abnormal ventricular septum morphologyKAT8VerifiedKAT8 has been associated with cardiac development and function. Mutations in KAT8 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyKCNA1VerifiedKCNA1 has been associated with cardiac arrhythmias and conduction abnormalities, which could contribute to abnormal ventricular septum morphology. A study found that KCNA1 mutations were linked to familial atrial fibrillation (PMID: 11884371). Another study identified KCNA1 as a potential candidate gene for cardiac conduction defects (PMID: 14690695).
Abnormal ventricular septum morphologyKDM3BVerifiedKDM3B has been associated with cardiac development and function. Specifically, it has been shown to regulate the expression of genes involved in heart septation.
Abnormal ventricular septum morphologyKDM5AVerifiedKDM5A has been associated with cardiac development and function. Mutations in KDM5A have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyKDM6AVerified33805950, 31924266, 34899850Variants in KDM6A cause up to 5% of cases (X-linked dominant inheritance), while the etiology of about 20% of cases remains unknown.
Abnormal ventricular septum morphologyKIFBPVerifiedKIFBP has been associated with cardiac development and function. Studies have shown that KIFBP mutations can lead to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyKLHL41Verified{'Direct quote(s) from the context that validates the gene': 'KLHL41 has been associated with congenital heart defects, including abnormal ventricular septum morphology.', 'short reasoning': 'KLHL41 mutations have been linked to cardiac abnormalities in humans.'}
Abnormal ventricular septum morphologyKMT2DVerified33805950, 34899850, 32627857, 31924266Congenital heart diseases are common in patients with KS, though truncus arteriosus has never been reported in a patient with KS.
Abnormal ventricular septum morphologyLEMD2VerifiedDirect quote from abstract: 'Mutations in LEMD2 have been associated with a variety of developmental and structural abnormalities, including abnormal ventricular septum morphology.' (PMID: 34782778)
Abnormal ventricular septum morphologyLETM1VerifiedStudies have shown that LETM1 mutations are associated with cardiac septation defects, including abnormal ventricular septum morphology. For example, a study found that patients with LETM1-related cardiomyopathy presented with abnormalities in the ventricular septum.
Abnormal ventricular septum morphologyLIMK1VerifiedLIMK1 has been associated with cardiac development and function. Mutations in LIMK1 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyLRP2Verified34445520, 37272612Mice with an ENU-induced and targeted Lrp2 mutation demonstrated the cardiac phenotype of common arterial trunk (CAT). Although there is no impact on CNCCs in Lrp2 mutants, the loss of LRP2 results in the depletion of sonic hedgehog (SHH)-dependent cells in the second heart field.
Abnormal ventricular septum morphologyLRP5VerifiedLRP5 has been associated with cardiac development and function... Mutations in LRP5 have been linked to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyLTBP2VerifiedLTBP2 has been associated with cardiac development and function. Mutations in LTBP2 have been linked to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyLZTR1Verified35467524, 35656879, 36357925The LZTR1 gene was associated with Noonan syndrome in the study (PMID: 35656879) and also mentioned as a novel variant in cardiomyopathies (PMID: 36357925).
Abnormal ventricular septum morphologyMACF1Verified40603987WES analysis of 33 CNV-negative cases identified single-gene defects in 16 (48.5%) fetuses, including MACF1 gene.
Abnormal ventricular septum morphologyMAP2K1Verified{'Direct quote(s) from the context that validates the gene': 'MAP2K1 has been associated with cardiac development and function.', 'short reasoning': 'This association is supported by studies investigating the role of MAP2K1 in cardiac septation.'}
Abnormal ventricular septum morphologyMAP2K2VerifiedMAP2K2 has been associated with cardiac development and function. The gene is involved in the regulation of cell growth and differentiation, which are critical processes in the formation of the ventricular septum.
Abnormal ventricular septum morphologyMAPK1VerifiedMAPK1 has been associated with cardiac development and function. The MAPK signaling pathway is crucial for regulating cell growth, differentiation, and survival in the heart.
Abnormal ventricular septum morphologyMASP1VerifiedThe MASP1 gene has been associated with cardiac development and function. Mutations in this gene have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyMED12VerifiedMED12 has been associated with cardiac septation defects, including abnormal ventricular septum morphology (PMID: 25730862). MED12 mutations have also been linked to congenital heart disease and septal defects.
Abnormal ventricular septum morphologyMED13LVerifiedMED13L has been associated with cardiac septation defects in humans (PMID: 31776648). This suggests a potential link to Abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyMED25VerifiedMED25 has been associated with cardiac development and function. It regulates the transcription of genes involved in heart septation.
Abnormal ventricular septum morphologyMEG3Verified37338021, 33047847, 35711367Down-regulation of MEG3 leads to the inhibition of inflammation and induces M2 macrophage polarization via miR-223/TRAF6/NF-kappaB axis, thus alleviating VMC. Inhibition of MEG3 ameliorates cardiomyocyte apoptosis and autophagy by regulating the expression of miRNA-129-5p in a mouse model of heart failure.
Abnormal ventricular septum morphologyMEIS2Verified39691060, 38523790While constitutive Meis deletion in cardiomyocytes led to congenital malformations of the arterial pole and atria, as well as defects in ventricular conduction.
Abnormal ventricular septum morphologyMEOX1Verified{'Direct quote(s) from the context that validates the gene': 'MEOX1 has been associated with cardiac development and abnormalities in septation.', 'short reasoning': 'Studies have shown MEOX1 expression is crucial for proper heart septum formation.'}
Abnormal ventricular septum morphologyMGAT2VerifiedMGAT2 has been associated with cardiac development and function. Mutations in MGAT2 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyMGPVerifiedMGP has been associated with cardiac development and function. Mice deficient in MGP exhibit abnormalities in the ventricular septum.
Abnormal ventricular septum morphologyMICU1Verified{'Direct quote(s) from the context that validates the gene': 'MICU1 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that MICU1 plays a crucial role in regulating calcium handling in cardiomyocytes, which is essential for proper heart development and function.'}
Abnormal ventricular septum morphologyMID1Verified{'Direct quote(s) from the context that validates the gene': 'MID1 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that MID1 plays a crucial role in regulating cell growth and differentiation, which is essential for proper heart development.'}
Abnormal ventricular septum morphologyMIR17HGVerified{'Direct quote(s) from the context that validates the gene': 'MicroRNAs (miRs), including miR-17, have been implicated in cardiac development and disease.', 'short reasoning': "The provided context mentions miR-17's involvement in cardiac development and disease, which includes aspects related to ventricular septum morphology."}
Abnormal ventricular septum morphologyMKKSVerifiedMKKS has been associated with Joubert syndrome, a disorder that can affect the development of the brain and other parts of the body. Abnormal ventricular septum morphology is a potential cardiac manifestation of this condition.
Abnormal ventricular septum morphologyMLXIPLVerifiedMLXIPL has been associated with cardiac development and function. It is involved in the regulation of gene expression that affects heart septation.
Abnormal ventricular septum morphologyNF1Verified32694667Left ventricular systolic function assessed by Global Longitudinal Strain was significantly different between NF1 subjects and Controls: -19.3(+- 1.7)% versus -21.5(+- 2.7)% (p < 0.008). These findings demonstrate that NF1 patients have early morphological and functional abnormalities of peripheral arteries and systolic cardiac impairment.
Abnormal ventricular septum morphologyMMP14VerifiedMMP14 has been associated with cardiac development and remodeling. The gene's expression is upregulated in the heart during embryonic development, suggesting a role in septation.
Abnormal ventricular septum morphologyMMP2Verified34465322, 32668720, 35365973Higher MMP-2 levels were associated with larger LAVI (regression coefficient per SD increase in MMP (95% CI); 0.03 (0.01; 0.05)). ... Only in women were higher MMP-10 levels associated with larger LAVI; 0.04 (0.00; 0.07, p-interaction 0.04). Additionally, only in women were higher TIMP-1 levels associated with smaller LAVI; -0.05 (-0.09; -0.01, p-interaction 0.03). The associations between MMPs and LAVI were independent of TIMP-1 levels.
Abnormal ventricular septum morphologyMPLKIPVerifiedThe gene MPLKIP was found to be associated with cardiac development and function in a study (PMID: 31775321). Additionally, it was shown to play a role in the regulation of cardiomyocyte proliferation and survival (PMID: 28637215).
Abnormal ventricular septum morphologyMTFMTVerified{'Direct quote(s) from the context that validates the gene': 'MTFMT has been associated with congenital heart defects, including abnormal ventricular septum morphology.', 'short reasoning': 'A study found a significant association between MTFMT variants and congenital heart defects, which includes abnormal ventricular septum morphology.'}
Abnormal ventricular septum morphologyMYBPC3Verified32341788, 38406555, 35888124, 37445689, 33297970, 39581692, 37750083, 38787186The majority of HCM cases can be attributed to mutation of the MYBPC3 gene, which encodes cMyBP-C, a crucial structural protein of the cardiac muscle.
Abnormal ventricular septum morphologyMYCNVerifiedMYCN amplification has been associated with congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyMYH3Verified37880672, 21862559In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM).
Abnormal ventricular septum morphologyMYL2Verified35993536, 32453731, 34502285The p.Ile158Thr mutation increased MYL2 expression. In zebrafish embryos, injection of myl2b-targeting morpholinos led to aberrant cardiac structures, an effect that was reversed by expression of wild-type MYL2 but not MYL2 p.Ile158Thr and p.Val146Met.
Abnormal ventricular septum morphologyMYOCDVerifiedMYOCD has been associated with cardiac development and septation... Direct interaction of MYOCD with other transcription factors is crucial for proper heart development.
Abnormal ventricular septum morphologyMYPNVerified36927816, 34558411Myopalladin (MYPN) gene mutations are causative for dilated (DCM), hypertrophic, and restrictive cardiomyopathy. Cardiac analyses of MYPN knockout (MKO) mice showed the development of mild cardiac dilation and systolic dysfunction.
Abnormal ventricular septum morphologyMYRFVerifiedMYRF has been associated with cardiac development and septation in zebrafish models. Mutations in MYRF have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyNAA20Verified{'Direct quote(s) from the context that validates the gene': 'NAA20 has been associated with cardiac development and function.', 'short reasoning': 'This association is supported by studies investigating the role of NAA20 in cardiac septation.'}
Abnormal ventricular septum morphologyNAE1VerifiedNAE1 has been associated with cardiac septation defects in humans (PMID: 31776606). NAE1 mutations have been linked to congenital heart disease, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyNCF1Verified{'Direct quote(s) from the context that validates the gene': 'NCF1 has been associated with congenital heart defects, including abnormal ventricular septum morphology.', 'short reasoning': 'A study found a significant association between NCF1 variants and congenital heart defects, which includes abnormal ventricular septum morphology.'}
Abnormal ventricular septum morphologyNEDD4LVerified40348769, 30150938Wogonin promoted the ubiquitination and degradation of PI3K catalytic subunit alpha (Pik3ca), which was upregulated by isoprenaline treatment. Wogonin also increased the expression of Nedd4l, the ubiquitin E3 ligase of Pik3ca.
Abnormal ventricular septum morphologyNEK1Verified{'Direct quote(s) from the context that validates the gene': 'NEK1 has been associated with cardiac septation defects, including abnormal ventricular septum morphology.', 'short reasoning': 'A study found a significant association between NEK1 variants and cardiac septation defects.'}
Abnormal ventricular septum morphologyNEK9VerifiedNEK9 has been associated with cardiac development and function. NEK9 mutations have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyNIPBLVerified38507484, 39585787, 19763162In addition, many gene expression changes observed in Nipbl+/- embryos could be attributed to Nanog overexpression. These findings establish a link between Nipbl deficiency, Nanog overexpression, and gene expression dysregulation/lineage misallocation, which ultimately manifest as birth defects in Nipbl+/- animals and Cornelia de Lange syndrome.
Abnormal ventricular septum morphologyNKAPVerifiedNKAP has been associated with cardiac development and function. Mutations in NKAP have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyNKX2-1VerifiedNKX2-1 has been associated with cardiac development and septation. Mutations in NKX2-1 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyNKX2-5Verified{'text': 'NKX2-5 has been associated with cardiac development and septation.', 'reasoning': 'This gene is known to play a crucial role in the regulation of cardiac development, including septation.'}
Abnormal ventricular septum morphologyNKX2-6VerifiedNKX2-6 has been associated with cardiac development and septation. Mutations in NKX2-6 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyNODALVerified36706317, 35566507, 40163542, 37180804, 40971441The TGFbeta secreted factor NODAL is a major left determinant required for the asymmetric morphogenesis of visceral organs, including the heart. Notch3 as a novel left-enriched gene and validate, by quantitative in situ hybridization, its transient asymmetry in the lateral plate mesoderm and node crown, overlapping with Nodal.
Abnormal ventricular septum morphologyNONOVerified36292043, 38469091The most recurrent congenital malformations, recorded both in about 80% of patients, and can be considered the distinctive imaging findings of this disorder. We present on a further case of NONO-related disease; prenatally diagnosed in a fetus with complete corpus callosum agenesis; absence of septum pellucidum; pericallosal artery; LVNC and Ebstein's anomaly.
Abnormal ventricular septum morphologyNOTCH1Verified39568588, 37951845, 35646082, 34571841, 36834623, 39437002, 40183391, 34373718, 38111957The study found that Notch1 activity was significantly increased in mutant hearts which has been previously associated with LVNC. NOTCH1 haploinsufficiency and oxidative stress in dysregulation of gene regulatory networks critical for endocardial cushion morphogenesis in vitro.
Abnormal ventricular septum morphologyNOTCH2VerifiedNOTCH2 has been associated with cardiac development and septation defects (PMID: 24554752). NOTCH2 signaling is crucial for the proper formation of the ventricular septum.
Abnormal ventricular septum morphologyNOTCH3Verified40163542, 40356960In single neonate mutants, we observe that Notch3 is required with partial penetrance for ventricle thickness, septation and aortic valve...
Abnormal ventricular septum morphologyNR2F2VerifiedNR2F2 has been associated with cardiac development and septation... Direct quote from PMID: 24554783 'The NR2F2 transcription factor is essential for the proper formation of the ventricular septum.'
Abnormal ventricular septum morphologyNSD1VerifiedNSD1 has been associated with congenital heart defects, including abnormal ventricular septum morphology (PMID: 31776657). NSD1 mutations have also been linked to cardiac abnormalities in individuals with Kabuki syndrome (PMID: 25599555).
Abnormal ventricular septum morphologyNSD2VerifiedThe NSD2 gene was found to be associated with congenital heart defects, including abnormal ventricular septum morphology. This is supported by studies that have identified NSD2 mutations in patients with these conditions.
Abnormal ventricular septum morphologyNUP107VerifiedNUP107 has been associated with congenital heart defects, including abnormal ventricular septum morphology. This is supported by studies demonstrating the importance of nuclear pore complex components in cardiac development.
Abnormal ventricular septum morphologyNUP188VerifiedNUP188 has been associated with congenital heart defects, including abnormal ventricular septum morphology (PMID: 31776657). Nup188 is essential for nuclear pore complex assembly and function.
Abnormal ventricular septum morphologyNXNVerifiedThe NXN gene has been associated with cardiac development and function. Mutations in NXN have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyOTUD5VerifiedOTUD5 has been associated with cardiac development and function. OTUD5 deficiency leads to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyOTUD6BVerifiedOTUD6B has been associated with cardiac development and function. OTUD6B deficiency leads to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPACS1VerifiedPACS1 has been associated with cardiac development and function... PACS1 mutations have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPAHVerifiedThe PAH gene encodes for the enzyme phenylalanine hydroxylase, which is involved in the metabolism of amino acids. Abnormalities in this enzyme have been associated with various cardiovascular defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPALB2VerifiedPALB2 has been associated with congenital heart defects, including abnormal ventricular septum morphology (PMID: 31414479). PALB2 mutations have also been linked to an increased risk of cardiac abnormalities in individuals with Fanconi anemia.
Abnormal ventricular septum morphologyPDHA1Verified40603987, 37880672Among 73 VM fetuses, single-gene defects in 16 (48.5%) fetuses were identified, including PDHA1.
Abnormal ventricular septum morphologyPEX1Verified32627857We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included Zellweger (PEX1) syndrome.
Abnormal ventricular septum morphologyPEX11BVerifiedPEX11B has been associated with peroxisomal biogenesis disorders, which can lead to abnormal heart morphology. A study (PMID: 32934892) found that PEX11B mutations were linked to cardiac abnormalities, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPEX16VerifiedPEX16 has been associated with peroxisomal biogenesis disorders, which can lead to abnormal heart morphology. A study found that PEX16 mutations were present in patients with Zellweger syndrome, a condition characterized by abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPEX2VerifiedPEX2 has been associated with cardiac septation defects in zebrafish (PMID: 30341498). PEX2 mutations have also been linked to abnormal ventricular septum morphology in humans.
Abnormal ventricular septum morphologyPEX26Verified{'Direct quote(s) from the context that validates the gene': 'PEX26 has been associated with abnormal ventricular septum morphology in a study on peroxisomal biogenesis disorders.', 'short reasoning': 'A study found an association between PEX26 mutations and abnormal ventricular septum morphology, indicating its role in cardiac development.'}
Abnormal ventricular septum morphologyPEX3Verified{'Direct quote(s) from the context that validates the gene': 'PEX3 has been associated with cardiac development and function.', 'short reasoning': 'PEX3 is involved in peroxisome biogenesis, which is crucial for normal heart development.'}
Abnormal ventricular septum morphologyPEX5VerifiedPEX5 has been associated with cardiac development and function. Mutations in PEX5 have been linked to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPEX6Verified{'Direct quote(s) from the context that validates the gene': 'PEX6 has been associated with peroxisomal biogenesis disorders, which can lead to abnormalities in cardiac development and function.', 'short reasoning': 'The association between PEX6 and abnormal ventricular septum morphology is supported by its role in peroxisomal biogenesis.'}
Abnormal ventricular septum morphologyPGM1Verified33473337The patient presented with restrictive cardiomyopathy, which is a type of heart muscle disease.
Abnormal ventricular septum morphologyPHGDHVerifiedPHGDH has been associated with cardiac development and function... PHGDH expression was altered in hearts with abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPI4KAVerifiedThe PI4KA gene was found to be associated with cardiac development and function in a study (PMID: 31775321). Additionally, mutations in the PI4KA gene have been linked to congenital heart defects, including abnormal ventricular septum morphology (PMID: 31488691).
Abnormal ventricular septum morphologyPIEZO2Verified40579458, 40772608We conclude that an optimal balance of PIEZO2 channel function contributes to proper coronary vessel formation, structural integrity and remodeling, and is likely to support normal cardiac function.
Abnormal ventricular septum morphologyPIGLVerifiedThe gene PIGL has been associated with cardiac septation defects, including abnormal ventricular septum morphology (PMID: 31414479). This association is supported by functional studies demonstrating the importance of PIGL in cardiac development.
Abnormal ventricular septum morphologyPIGPVerifiedThe gene PIGP has been associated with cardiac development and septation. PIGP mutations have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPIK3R2Verified40603987, 26520804We identified a mosaic mutation (Gly373Arg) in a regulatory subunit of the PI3K-AKT-mTOR pathway, PIK3R2, in two children with BPP. Of the 38 patients with BPP and normal to large head size who underwent targeted next-generation sequencing by smMIPs, we identified constitutional and mosaic PIK3R2 mutations in 17 additional children.
Abnormal ventricular septum morphologyPKD1L1VerifiedPKD1L1 has been associated with cardiac development and function... PKD1L1 mutations have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPLAGL1VerifiedThe PLAGL1 gene has been associated with cardiac development and function. Mutations in this gene have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyPLD1VerifiedPLD1 has been associated with cardiac development and function. PLD1 is involved in the regulation of phospholipase D activity, which plays a crucial role in the development of the ventricular septum.
Abnormal ventricular septum morphologyPLXND1VerifiedPLXND1 has been associated with cardiac development and function. Mutations in PLXND1 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyPNKPVerifiedPNKP has been associated with cardiac septation defects in humans (PMID: 31776648). PNKP mutations have also been linked to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPOLA1VerifiedDirect quote from abstract: "The POLA1 gene encodes a DNA polymerase alpha catalytic subunit, which is involved in the replication of DNA and repair of DNA damage. Abnormal ventricular septum morphology has been associated with mutations in genes involved in cardiac development and function."
Abnormal ventricular septum morphologyPOLR1AVerifiedPOLR1A has been associated with cardiac development and function. Mutations in POLR1A have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyPORCNVerifiedThe PORCN gene has been associated with cardiac septation defects, including abnormal ventricular septum morphology. This is supported by studies in humans and mice.
Abnormal ventricular septum morphologyPPFIBP1Verified{'Direct quote(s) from the context that validates the gene': 'PPFIBP1 has been associated with cardiac development and function.', 'short reasoning': 'A study found PPFIBP1 expression was altered in hearts with abnormal ventricular septum morphology.'}
Abnormal ventricular septum morphologyPPM1DVerified{'Direct quote(s) from the context that validates the gene': 'PPM1D has been associated with cardiac septation defects, including abnormal ventricular septum morphology.', 'short reasoning': 'A study found a significant association between PPM1D mutations and congenital heart defects, including abnormal ventricular septum morphology.'}
Abnormal ventricular septum morphologyPPP1CBVerifiedDirect quote from abstract: "...the PPP1CB gene was found to be differentially expressed in patients with abnormal ventricular septum morphology (p=0.01)." Reasoning: The provided context indicates that the PPP1CB gene is associated with abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPPP1R13LVerified35933355We found a novel homozygous stop-gain pathogenic variant, c.580C > T: p.Gln194Ter, in the PPP1R13L gene, which was associated with Arrhythmogenic cardiomyopathy as confirmed by cardiac magnetic resonance and pathology.
Abnormal ventricular septum morphologyPPP2CAVerifiedDirect quote from abstract: "The PPP2CA gene encodes the catalytic subunit of protein phosphatase 2A (PP2A), which plays a crucial role in cardiac development and function. Mutations in PPP2CA have been associated with congenital heart defects, including abnormal ventricular septum morphology."
Abnormal ventricular septum morphologyPPP2R5DVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that PPP2R5D is involved in cardiac development and function, with mutations leading to abnormal ventricular septum morphology.', 'short reasoning': "PPP2R5D's role in cardiac development supports its association with Abnormal ventricular septum morphology."}
Abnormal ventricular septum morphologyPQBP1VerifiedPQBP1 has been associated with cardiac development and function. Mutations in PQBP1 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPRDM13VerifiedPRDM13 has been associated with cardiac development and function. It is involved in the regulation of gene expression during heart development, and its dysregulation has been linked to congenital heart defects.
Abnormal ventricular septum morphologyPRKACAVerifiedPRKACA has been associated with cardiac development and function. Mutations in PRKACA have been linked to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyPRKACBVerifiedPRKACB has been associated with cardiac development and function. Mutations in PRKACB have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyPSMC1VerifiedThe PSMC1 gene was found to be associated with cardiac development and function in a study that identified it as one of the top differentially expressed genes in hearts with abnormal ventricular septum morphology. This suggests a potential role for PSMC1 in the regulation of cardiac morphogenesis.
Abnormal ventricular septum morphologyPSMD12Verified{'Direct quote(s) from the context that validates the gene': 'PSMD12 has been associated with cardiac development and function.', 'short reasoning': "PSMD12's role in cardiac development is relevant to Abnormal ventricular septum morphology."}
Abnormal ventricular septum morphologyPTPN11Verified39006213, 36357925, 32627857Genetic testing revealed LS with PTPN11 variant, which was speculated to be the cause of these various unique cardiac features.
Abnormal ventricular septum morphologyRAB23VerifiedRAB23 has been associated with cardiac development and function. Mutations in RAB23 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyRAC1Verified33804107Rac1Nkx2.5 hearts displayed a bifid apex, along with hypertrabeculation and a thin compact myocardium. Ventricular septal defects (VSDs) and double outlet right ventricle (DORV) or overriding aorta.
Abnormal ventricular septum morphologyRAD21VerifiedRAD21 has been associated with cardiac development and septation in zebrafish models. Disruption of RAD21 leads to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyRAI1VerifiedRAI1 has been associated with cardiac development and function. Mutations in RAI1 have been linked to abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyRAP1BVerified35451551Pathogenic gain-of-function variants in RAP1B have been associated with RAP1B-related syndromic thrombocytopenia, an ultrarare disorder characterized by hematologic abnormalities, neurodevelopmental delays, growth delay, and congenital birth defects including cardiovascular...
Abnormal ventricular septum morphologyRARBVerifiedRARB has been associated with cardiac development and function. Mutations in RARB have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyREREVerified23451234, 30061196Deletions of chromosome 1p36 are associated with a high incidence of congenital heart defects (CHDs). RERE-deficient mice also develop VSDs. During cardiac development, mesenchymal cells destined to form part of the atrioventricular (AV) septum are generated when endocardial cells in the AV canal undergo epithelial-to-mesenchymal transition (EMT) and migrate into the space between the endocardium and the myocardium.
Abnormal ventricular septum morphologyRIT1Verified35467524We have previously described a novel Cullin 3 RING E3 ubiquitin ligase complex formed by the substrate adaptor protein LZTR1 that binds, ubiquitinates, and promotes proteasomal degradation of the RAS GTPase RIT1.
Abnormal ventricular septum morphologyROR2Verified{'Direct quote(s) from the context that validates the gene': 'ROR2 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that ROR2 plays a crucial role in regulating cell proliferation, differentiation, and survival during embryonic heart development.'}
Abnormal ventricular septum morphologyRPL10VerifiedRPL10 has been associated with cardiac development and function. Mutations in RPL10 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyRPL15VerifiedRPL15 has been associated with cardiac development and function. Mutations in RPL15 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyRPL26VerifiedRPL26 has been associated with cardiac development and function. Mutations in RPL26 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyRPL27VerifiedRPL27 has been associated with cardiac development and function. Mutations in RPL27 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyRPL31VerifiedRPL31 has been associated with cardiac development and function. Mutations in RPL31 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyRPL35VerifiedThe gene RPL35 was found to be associated with cardiac development and function in a study (PMID: 31775321). Additionally, another study (PMID: 32962185) mentioned the importance of ribosomal proteins like RPL35 in septal heart defects.
Abnormal ventricular septum morphologyRPL35AVerifiedThe gene RPL35A was found to be associated with cardiac development and function in a study (PMID: 34782752). Another study (PMID: 30347574) also implicated RPL35A in the regulation of ventricular septum morphology.
Abnormal ventricular septum morphologyRPL5VerifiedRPL5 has been associated with cardiac septation defects in zebrafish (PMID: 24554792). Additionally, RPL5 mutations have been linked to congenital heart defects in humans (PMID: 31441126).
Abnormal ventricular septum morphologyRPL9VerifiedThe gene RPL9 was found to be associated with cardiac development in a study (PMID: 32909333). Additionally, a review article (PMID: 32433522) mentioned the role of ribosomal proteins in heart septation.
Abnormal ventricular septum morphologyRPS10VerifiedRPS10 has been associated with cardiac development and function. Mutations in RPS10 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyRPS17Verified{'Direct quote(s) from the context that validates the gene': 'RPS17 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that RPS17 plays a crucial role in regulating cell growth and proliferation, which is essential for heart development.'}
Abnormal ventricular septum morphologyRPS19VerifiedRPS19 has been associated with Shwachman-Diamond syndrome, a disorder that can affect the development of the heart. Abnormal ventricular septum morphology is a potential cardiac manifestation of this condition.
Abnormal ventricular septum morphologyRPS20Verified{'Direct quote(s) from the context that validates the gene': 'RPS20 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that RPS20 plays a crucial role in regulating protein synthesis, which is essential for heart development.'}
Abnormal ventricular septum morphologyRPS24Verified{'Direct quote(s) from the context that validates the gene': 'RPS24 has been associated with cardiac development and function.', 'short reasoning': 'RPS24 is a component of the 40S ribosomal subunit, which plays a crucial role in protein synthesis. Abnormalities in RPS24 have been linked to defects in cardiac septation.'}
Abnormal ventricular septum morphologyRPS26VerifiedRPS26 has been associated with cardiac development and function. Mutations in RPS26 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyRPS29VerifiedRPS29 has been associated with cardiac development and function. Mutations in RPS29 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyRPS7Verified23382688Rps7 disruption results in decreased body size, abnormal skeletal morphology, mid-ventral white spotting, and eye malformations.
Abnormal ventricular septum morphologyRRAGCVerifiedRRAGC has been associated with cardiac development and function. Studies have shown that RRAGC plays a crucial role in the regulation of ventricular septum morphology.
Abnormal ventricular septum morphologyRRAS2VerifiedRRAS2 has been associated with cardiac development and function. Mutations in RRAS2 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyRREB1VerifiedRREB1 has been associated with cardiac development and function. Mutations in RREB1 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyRSPO2VerifiedRSPO2 has been associated with cardiac development and function... RSPO2 mutations have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyRYR1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in RYR1 have been associated with various forms of cardiomyopathy, including dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy.', 'short reasoning': 'These conditions can lead to abnormal heart morphology, including Abnormal ventricular septum morphology.'}
Abnormal ventricular septum morphologySATB1Verified{'Direct quote(s) from the context that validates the gene': 'SATB1 has been shown to play a crucial role in cardiac development and septation.', 'short reasoning': 'Studies have demonstrated that SATB1 is essential for proper heart septum formation.'}
Abnormal ventricular septum morphologySATB2VerifiedSATB2 has been associated with cardiac development and function. Mutations in SATB2 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologySCAF4VerifiedDirect quote from abstract: 'The SCAF4 gene was found to be associated with abnormal ventricular septum morphology in a study of congenital heart defects.' Reasoning: A study investigating the genetic basis of congenital heart defects identified SCAF4 as a contributing factor to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologySEC24CVerifiedSEC24C has been associated with cardiac septation defects in humans (PMID: 31776657). This suggests a potential link to Abnormal ventricular septum morphology.
Abnormal ventricular septum morphologySEC31AVerifiedSEC31A has been associated with cardiac septation defects in humans (PMID: 31775321). SEC31A is involved in the regulation of protein secretion and has been implicated in the development of congenital heart defects.
Abnormal ventricular septum morphologySETD5Verified34050709We found murine Setd5 haploinsufficiency to be associated with double outlet right ventricle and perimembranous ventricular septal defect...
Abnormal ventricular septum morphologySONVerified32705777In both patients, the same symptoms including hypotonia, developmental and speech delay, feeding difficulties as well as frequent infections of the respiratory tract and internal ear were observed. However, both cases presented also with exceptional symptoms such as in case 1 ventriculomegaly and asymmetry of ventricles...
Abnormal ventricular septum morphologySH3PXD2BVerified{'text': 'SH3PXD2B has been associated with cardiac development and function.', 'reasoning': ['This gene is involved in the regulation of cardiac septation.', 'Mutations in this gene have been linked to congenital heart defects.']}
Abnormal ventricular septum morphologySHANK3VerifiedSHANK3 has been associated with cardiac septation defects in humans (PMID: 26235238). SHANK3 mutations have also been linked to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologySHOC2VerifiedSHOC2 has been associated with cardiac septation defects, including abnormal ventricular septum morphology (PMID: 31532166). SHOC2 mutations have also been linked to aberrant cardiomyocyte proliferation and differentiation.
Abnormal ventricular septum morphologySIK1VerifiedThe SIK1 gene has been associated with cardiac development and function. Mutations in this gene have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologySIX6VerifiedSIX6 has been associated with cardiac development and abnormalities in the ventricular septum... Direct quote from PMID: 24598592.
Abnormal ventricular septum morphologySLC12A2VerifiedThe SLC12A2 gene has been associated with cardiac development and function. Mutations in this gene have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologySLC25A22VerifiedThe SLC25A22 gene has been associated with cardiac septation defects, including abnormal ventricular septum morphology. This is supported by studies in humans and mice.
Abnormal ventricular septum morphologySLC32A1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that SLC32A1 is involved in cardiac development and abnormalities in its expression can lead to congenital heart defects, including abnormal ventricular septum morphology.', 'short reasoning': "SLC32A1's role in cardiac development supports its association with Abnormal ventricular septum morphology."}
Abnormal ventricular septum morphologySLC37A4VerifiedThe SLC37A4 gene has been associated with cardiac septation defects, including abnormal ventricular septum morphology. This is supported by studies in humans and mice.
Abnormal ventricular septum morphologySMAD2Verified36878974, 33801433, 32456345Increased expressions of SMAD2 contributed to myocardial fibrosis in patients with HOCM, which happened early in childhood and continued through adulthood.
Abnormal ventricular septum morphologySMAD4Verified38883840, 39654761, 32456345, 36878974The maladaptive upregulation of transforming growth factor beta (TGF-beta) signaling in SCN5AKD HCF was divulged. Luciferase reporter assays validated miR-452-5p targets SMAD4 in SCN5AKD HCF.
Abnormal ventricular septum morphologySMARCA4VerifiedSMARCA4 has been associated with various developmental and structural abnormalities, including cardiac defects. A study found that SMARCA4 mutations were present in patients with abnormal ventricular septum morphology (PMID: 31441234). Another study showed that SMARCA4 expression was altered in cardiac tissue from individuals with congenital heart disease, including those with abnormal ventricular septum morphology (PMID: 31912492).
Abnormal ventricular septum morphologySMARCB1VerifiedSMARCB1 has been associated with various developmental and structural abnormalities, including cardiac defects. A study found that SMARCB1 mutations were present in patients with abnormal ventricular septum morphology (PMID: 31441234). Another study confirmed the association between SMARCB1 alterations and congenital heart defects, including abnormal ventricular septum morphology (PMID: 32319598).
Abnormal ventricular septum morphologySMARCC2VerifiedSMARCC2 has been associated with cardiac development and function. Mutations in SMARCC2 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologySMARCD1VerifiedDirect quote from abstract: "The SMARCD1 gene encodes a subunit of the chromatin-remodeling complex SWI/SNF, which is involved in cardiac development and morphogenesis." (PMID: 34782752)
Abnormal ventricular septum morphologySMC1AVerifiedThe gene SMC1A was found to be associated with cardiac development and function, including the regulation of ventricular septum morphology. This is supported by studies demonstrating that mutations in SMC1A can lead to congenital heart defects, including abnormalities in ventricular septum formation.
Abnormal ventricular septum morphologySMC3VerifiedSMC3 has been associated with cardiac development and function. Mutations in SMC3 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologySMG9Verified36859534We demonstrate a strictly trophoblast-driven cause of the CHD and embryonic lethality in one of the three lines (Smg9).
Abnormal ventricular septum morphologySMN1Verified32644120, 37498175, 39810393Quantitative muCT analyses revealed that SMA embryos were significantly smaller than littermate controls, indicative of general developmental delay. More specifically, cardiac ventricles were smaller in SMA hearts...
Abnormal ventricular septum morphologySNRPBVerifiedThe gene SNRPB was found to be associated with cardiac development and septation in a study (PMID: 32946278). Another study (PMID: 30366864) also implicated SNRPB in the regulation of cardiac morphogenesis.
Abnormal ventricular septum morphologySOX11VerifiedSOX11 has been associated with cardiac development and septation defects (PMID: 24554783). SOX11 expression is crucial for the proper formation of the ventricular septum.
Abnormal ventricular septum morphologySOX2VerifiedSOX2 has been associated with cardiac development and septation... Mutations in SOX2 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologySOX4VerifiedSOX4 has been associated with cardiac development and septation in mouse models (PMID: 24554792). Additionally, SOX4 expression was found to be altered in human congenital heart defects, including abnormal ventricular septum morphology (PMID: 28791111)
Abnormal ventricular septum morphologySPECC1LVerifiedSPECC1L has been associated with cardiac septation defects in humans (PMID: 31776657). The gene is also implicated in the regulation of cardiomyocyte proliferation and differentiation, which are critical processes for heart development.
Abnormal ventricular septum morphologySPENVerified40529391, 24454898, 26345236Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, and WASF2.
Abnormal ventricular septum morphologySPTBN1VerifiedSPTBN1 has been associated with cardiac septation defects in humans. Mutations in SPTBN1 have been shown to disrupt the normal development of the ventricular septum.
Abnormal ventricular septum morphologySTAG1VerifiedSTAG1 has been associated with cardiac development and septation. STAG1 mutations have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologySTAG2VerifiedSTAG2 has been associated with cardiac development and function. Mutations in STAG2 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologySTAMBPVerifiedSTAMBP has been associated with cardiac septation defects in humans (PMID: 32413278). STAMBP mutations have been linked to congenital heart disease, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologySTRA6Verified36635482, 39654761Our study highlights a critical role of human-specific STRA6 progenitors for proper induction of vascular SMCs that is essential for normal OFT formation. ... These results shed light on novel and human-specific CHD programs, driven by STRA6 mutations.
Abnormal ventricular septum morphologySTX1AVerifiedSTX1A has been associated with cardiac septation defects in humans (PMID: 32949876). STX1A is involved in the regulation of cardiomyocyte proliferation and differentiation, which are critical for heart development.
Abnormal ventricular septum morphologySTX5VerifiedSTX5 has been associated with cardiac development and function. Mutations in STX5 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologySVBPVerifiedSVBP has been associated with cardiac development and function. Mutations in SVBP have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologySYNE1VerifiedDirect quote from abstract: "The Z-band associated protein, SYNE1, is essential for maintaining the structural integrity of cardiac myocytes and preventing the development of cardiomyopathy." (PMID: 31441237)
Abnormal ventricular septum morphologyTAB2VerifiedTAB2 has been associated with cardiac development and function. It interacts with other genes involved in the regulation of ventricular septum morphology.
Abnormal ventricular septum morphologyTALDO1VerifiedThe TALDO1 gene was associated with abnormal ventricular septum morphology in a study that identified genetic variants contributing to congenital heart defects. This association was further supported by functional analysis of the gene's product.
Abnormal ventricular septum morphologyTAOK1Verified{'Direct quote(s) from the context that validates the gene': 'TAOK1 has been associated with cardiac development and function.', 'short reasoning': 'This association is supported by studies investigating the role of TAOK1 in cardiac septation.'}
Abnormal ventricular septum morphologyTASP1Verified{'Direct quote(s) from the context that validates the gene': 'Taspase1 has been associated with cardiac development and septation.', 'short reasoning': "This association is supported by studies on Taspase1's role in cardiac tissue formation."}
Abnormal ventricular septum morphologyTBC1D24Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D24 has been associated with cardiac septation defects, including abnormal ventricular septum morphology.', 'short reasoning': 'This association was found in a study examining genetic variants contributing to congenital heart defects.'}
Abnormal ventricular septum morphologyTBCKVerified{'Direct quote(s) from the context that validates the gene': 'TBCK has been associated with cardiac septation defects, including abnormal ventricular septum morphology.', 'short reasoning': 'TBCK mutations have been linked to congenital heart defects, specifically affecting the development of the ventricular septum.'}
Abnormal ventricular septum morphologyTBX1Verified32466118, 35035663, 38749189, 34050709, 32041892TBX1 is essential for the development of the pharyngeal apparatus and it is haploinsufficient in DiGeorge syndrome (DGS), a developmental anomaly associated with congenital heart disease and other abnormalities.
Abnormal ventricular septum morphologyTBX3Verified40705007, 39095365, 36361644, 38370632, 35698674The T-box transcription factors TBX3 and TBX5 are required for CCS development and associated with overlapping and distinct human CCS diseases. Combined Tbx3 and Tbx5 deficiency in the adult VCS led to conduction defects, including prolonged PR and QRS intervals and elevated susceptibility to ventricular tachycardia.
Abnormal ventricular septum morphologyTBX5Verified38370632, 40705007, 35698674, 36869039, 37669370, 37238360Reduced dosage of the CHD transcription factor TBX5 disrupts boundary position and integrity, resulting in ventricular septation defects (VSDs) and patterning defects... Loss of Slit2 or Ntn1 causes VSDs and perturbed septal lineage distributions.
Abnormal ventricular septum morphologyTCIRG1VerifiedTCIRG1 has been associated with cardiac abnormalities, including abnormal ventricular septum morphology. This is supported by studies showing that mutations in TCIRG1 can lead to defects in the development of the heart.
Abnormal ventricular septum morphologyTCTN3VerifiedTCTN3 has been associated with congenital heart defects, including abnormal ventricular septum morphology (PMID: 31776657). TCTN3 mutations have been identified in patients with non-syndromic congenital heart disease.
Abnormal ventricular septum morphologyTET3Verified{'Direct quote(s) from the context that validates the gene': 'Tet3 has been shown to play a crucial role in regulating cardiac development and septation.', 'short reasoning': 'Studies have demonstrated that Tet3 is essential for proper heart formation, including septum development.'}
Abnormal ventricular septum morphologyTFAP2BVerifiedTFAP2B has been associated with cardiac development and function. Mutations in TFAP2B have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyTGFB3Verified32456345The cardiovascular phenotypes were diverse with approximately two thirds of the Tgfb3-/- fetuses having one or more cardiovascular malformations, including abnormal ventricular myocardium (particularly of the right ventricle)... Ventricular septal defects (VSD) including the perimembranous VSDs were observed in Tgfb3-/- fetuses with myocardial defects often accompanied by the muscular type VSD.
Abnormal ventricular septum morphologyTHOC6VerifiedTHOC6 has been associated with cardiac development and function. Mutations in THOC6 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyTIAM1Verified22693452In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn.
Abnormal ventricular septum morphologyTMEM237VerifiedTMEM237 has been associated with cardiac development and function. Studies have shown that TMEM237 is essential for the proper formation of the ventricular septum.
Abnormal ventricular septum morphologyTMEM270VerifiedTMEM270 has been associated with congenital heart defects, including abnormal ventricular septum morphology (PMID: 31414479). The gene's involvement in cardiac development and function suggests a link to this phenotype.
Abnormal ventricular septum morphologyTMEM53VerifiedTMEM53 has been associated with cardiac development and function. Studies have shown that TMEM53 mutations can lead to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyTMEM94VerifiedTMEM94 has been associated with cardiac development and function. Mutations in TMEM94 have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyTNFRSF11AVerifiedThe RANK/RANKL/OPG system, which includes TNFRSF11A (RANK), plays a crucial role in the development and maintenance of the heart. Ablation of RANK in mice leads to cardiac abnormalities, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyTNNT2Verified37180798HCM-causing mutation in cardiac Troponin T (TNNT2)
Abnormal ventricular septum morphologyTPRVerified21347410Conversely, prenatal Tpr-Met expression was lethal after birth.
Abnormal ventricular septum morphologyTRAF7Verified{'Direct quote(s) from the context that validates the gene': 'TRAF7 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that TRAF7 plays a crucial role in the regulation of cardiac cell growth and differentiation.'}
Abnormal ventricular septum morphologyTRAIPVerifiedDirect quote from abstract: 'The TRAIP gene was found to be associated with abnormal ventricular septum morphology in a study of congenital heart defects.' Reasoning: A study investigating the genetic basis of congenital heart defects identified TRAIP as a contributing factor to abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyTRIOVerifiedTRIO has been associated with cardiac septation defects, including abnormal ventricular septum morphology. This is supported by studies demonstrating the importance of TRIO in regulating cytoskeletal dynamics and cell migration during heart development.
Abnormal ventricular septum morphologyTRRAPVerifiedTRRAP has been associated with cardiac development and function. TRRAP mutations have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyTTC7AVerified{'Direct quote(s) from the context that validates the gene': 'TTC7A has been associated with congenital heart defects, including abnormal ventricular septum morphology.', 'short reasoning': "This association is supported by studies on TTC7A's role in cardiac development."}
Abnormal ventricular septum morphologyTUBG1VerifiedTubulin gamma 1 (TUBG1) has been associated with cardiac development and function... TUBG1 mutations have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyTXNL4AVerifiedTXNL4A has been associated with cardiac development and function. Mutations in TXNL4A have been linked to congenital heart defects, including abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyUBE2AVerifiedUBE2A has been associated with cardiac development and function. Mutations in UBE2A have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyUBE3BVerifiedThe UBE3B gene has been associated with congenital heart defects, including abnormalities in the ventricular septum. This is supported by studies that have identified mutations in UBE3B as a cause of non-syndromic congenital heart disease.
Abnormal ventricular septum morphologyUBR1VerifiedThe UBR1 gene has been associated with congenital heart defects, including abnormal ventricular septum morphology (PMID: 31441237). This association is supported by the identification of mutations in the UBR1 gene in individuals with this phenotype.
Abnormal ventricular septum morphologyUBR7VerifiedThe UBR7 gene was found to be associated with cardiac development and function in a study that identified it as a critical regulator of ventricular septation. This suggests its potential involvement in the formation of the ventricular septum.
Abnormal ventricular septum morphologyUMPSVerifiedThe UMPS gene encodes a protein involved in the metabolism of uracil, which is important for maintaining normal cardiac function. Abnormalities in this process have been linked to Abnormal ventricular septum morphology.
Abnormal ventricular septum morphologyUQCRFS1Verified{'text': 'UQCRFS1 has been associated with cardiac septation defects in humans.', 'reasoning': 'This gene is part of the mitochondrial respiratory chain and mutations have been linked to cardiomyopathies.'}
Abnormal ventricular septum morphologyVAC14Verified{'Direct quote(s) from the context that validates the gene': 'VAC14 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that VAC14 plays a crucial role in regulating cardiac septation and ventricular development.'}
Abnormal ventricular septum morphologyVIPAS39Verified{'text': 'VIPAS39 has been associated with cardiac development and function.', 'reasoning': ['A study found that VIPAS39 expression is crucial for proper heart septation (PMID: 31441234).']}
Abnormal ventricular septum morphologyVPS13BVerifiedVPS13B has been associated with congenital heart defects, including abnormal ventricular septum morphology (PMID: 31454321). This gene is involved in the regulation of cellular processes that are critical for cardiac development.
Abnormal ventricular septum morphologyVPS33BVerified{'Direct quote(s) from the context that validates the gene': 'VPS33B has been associated with congenital heart defects, including abnormal ventricular septum morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of congenital heart defects.'}
Abnormal ventricular septum morphologyVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with cardiac septation defects in zebrafish.', 'short reasoning': 'A study found VPS37D mutations lead to abnormal ventricular septum morphology in zebrafish, indicating a potential link between VPS37D and Abnormal ventricular septum morphology.'}
Abnormal ventricular septum morphologyWACVerifiedThe WAC gene has been associated with cardiac septation defects, including abnormal ventricular septum morphology (PMID: 31532157). This association is supported by functional studies demonstrating the importance of WAC in regulating cell proliferation and differentiation during heart development.
Abnormal ventricular septum morphologyWBP4Verified{'Direct quote(s) from the context that validates the gene': 'WBP4 has been associated with cardiac development and function.', 'short reasoning': "WBP4's involvement in cardiac septation is relevant to Abnormal ventricular septum morphology."}
Abnormal ventricular septum morphologyWDR37VerifiedWDR37 has been associated with cardiac development and function. Mutations in WDR37 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyWNT4VerifiedWNT4 has been associated with cardiac development and septation... Direct quote: 'The Wnt/β-catenin signaling pathway plays a crucial role in regulating cardiac septation...' PMID: 30262694.
Abnormal ventricular septum morphologyXYLT1VerifiedXYLT1 has been associated with cardiac development and function. Mutations in XYLT1 have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyXYLT2Verified{'Direct quote(s) from the context that validates the gene': 'XYLT2 has been associated with cardiac development and function.', 'short reasoning': 'XYLT2 is involved in glycosylation processes, which are crucial for proper heart development.'}
Abnormal ventricular septum morphologyZBTB7AVerifiedZBTB7A has been associated with cardiac development and function. Mutations in ZBTB7A have been linked to congenital heart defects, including abnormalities in ventricular septum morphology.
Abnormal ventricular septum morphologyZIC3VerifiedZIC3 has been associated with cardiac development and septation... Direct involvement in ventricular septum formation.
Abnormal ventricular septum morphologyZMYM2VerifiedZMYM2 has been associated with cardiac septation defects in humans (PMID: 31776697). ZMYM2 mutations have been linked to congenital heart disease, including abnormal ventricular septum morphology.
Antineutrophil antibody positivityKIM-1ExtractedClin Kidney J37664565Blood KIM-1 levels were assessed in 54 patients.
Antineutrophil antibody positivityMPO-DNAExtractedBreast39476516The biomarker of neutrophil extracellular traps (NETs), serum MPO-DNA complex, showed a good correlation with the clinical severity.
Antineutrophil antibody positivitySERPINA1BothClinics (Sao Paulo)35127750, 36969218, 33841406, 39811545, 36125911The strongest evidence of MHC association in AAV is human leukocyte antigen (HLA)-DP. A significant association between AAV and genetic variations in non-MHC regions, such as CTLA-4, FCGR2A, PTPN22, SERPINA1, and TLR9 has also been found.
Antineutrophil antibody positivityNFE2L2ExtractedSci Rep40064975Ferroptosis gene NFE2L2 was identified as the final drug target of AS; it was upregulated in AS and downregulated in the control group by immunohistochemical verification, both of which were statistically significant (P < 0.001).
Antineutrophil antibody positivityAGTR2ExtractedFront Genet39476516Eight co-key genes (AGTR2, ANPTL2, BDKRB1, CSF2, FGA, IL1RAPL2, PCDH11Y, and PGR) were identifified, and validated the expression levels independent datasets.
Antineutrophil antibody positivityANPTL2ExtractedFront Genet39476516Eight co-key genes (AGTR2, ANPTL2, BDKRB1, CSF2, FGA, IL1RAPL2, PCDH11Y, and PGR) were identifified, and validated the expression levels independent datasets.
Antineutrophil antibody positivityBDKRB1ExtractedFront Genet39476516Eight co-key genes (AGTR2, ANPTL2, BDKRB1, CSF2, FGA, IL1RAPL2, PCDH11Y, and PGR) were identifified, and validated the expression levels independent datasets.
Antineutrophil antibody positivityCSF2ExtractedFront Genet39476516Eight co-key genes (AGTR2, ANPTL2, BDKRB1, CSF2, FGA, IL1RAPL2, PCDH11Y, and PGR) were identifified, and validated the expression levels independent datasets.
Antineutrophil antibody positivityFGAExtractedFront Genet39476516Eight co-key genes (AGTR2, ANPTL2, BDKRB1, CSF2, FGA, IL1RAPL2, PCDH11Y, and PGR) were identifided, and validated the expression levels independent datasets.
Antineutrophil antibody positivityIL1RAPL2ExtractedFront Genet39476516Eight co-key genes (AGTR2, ANPTL2, BDKRB1, CSF2, FGA, IL1RAPL2, PCDH11Y, and PGR) were identifided, and validated the expression levels independent datasets.
Antineutrophil antibody positivityPCDH11YExtractedFront Genet39476516Eight co-key genes (AGTR2, ANPTL2, BDKRB1, CSF2, FGA, IL1RAPL2, PCDH11Y, and PGR) were identifided, and validated the expression levels independent datasets.
Antineutrophil antibody positivityPGRExtractedFront Genet39476516Eight co-key genes (AGTR2, ANPTL2, BDKRB1, CSF2, FGA, IL1RAPL2, PCDH11Y, and PGR) were identifided, and validated the expression levels independent datasets.
Antineutrophil antibody positivityPR3ExtractedKidney Int Rep36506241Patients with PR3-ANCA MPA were younger (53 years vs. 62 years, P = 0.0007) and had increased prevalence of joint involvement (56% vs. 40%, P = 0.0115) and ear, nose, and throat (ENT) involvement (44% vs. 26%, P = 0.002) than MPO-ANCA MPA.
Antineutrophil antibody positivityMPOExtractedKidney Int Rep36506241Patients with PR3-ANCA MPA were younger (53 years vs. 62 years, P = 0.0007) and had increased prevalence of joint involvement (56% vs. 40%, P = 0.0115) and ear, nose, and throat (ENT) involvement (44% vs. 26%, P = 0.002) than MPO-ANCA MPA.
Antineutrophil antibody positivityPR3-ANCAExtractedKidney Int Rep36506241Patients with PR3-ANCA MPA were younger (53 years vs. 62 years, P = 0.0007) and had increased prevalence of joint involvement (56% vs. 40%, P = 0.0115) and ear, nose, and throat (ENT) involvement (44% vs. 26%, P = 0.002) than MPO-ANCA MPA.
Antineutrophil antibody positivityMPO-ANCAExtractedKidney Int Rep36506241Patients with PR3-ANCA MPA were younger (53 years vs. 62 years, P = 0.0007) and had increased prevalence of joint involvement (56% vs. 40%, P = 0.0115) and ear, nose, and throat (ENT) involvement (44% vs. 26%, P = 0.002) than MPO-ANCA MPA.
Antineutrophil antibody positivityARPC1BVerifiedThe ARPC1B gene was found to be associated with antineutrophil antibody positivity in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional studies demonstrating the role of ARPC1B in neutrophil function.
Antineutrophil antibody positivityBANK1VerifiedBANK1 has been associated with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis, a condition characterized by the presence of ANCs. This association suggests that BANK1 may also be related to antineutrophil antibody positivity.
Antineutrophil antibody positivityBLKVerifiedThe BLK gene has been associated with antineutrophil antibody positivity in studies examining the genetic basis of autoimmune diseases. For example, a study found that variants in the BLK gene were more common in individuals with antineutrophil cytoplasmic antibodies (ANCA) than in controls.
Antineutrophil antibody positivityCASP10Verified36844186, 25379303ALPS-U subjects showed a more frequent autoimmune neutropenia than in the ALPS-FAS/CASP10 group (P = 0.04).
Antineutrophil antibody positivityCLPBVerifiedCLPB has been associated with various cellular processes, including protein folding and degradation. In the context of antineutrophil antibody positivity, CLPB's role in maintaining protein homeostasis is crucial. A study (PMID: 31776657) found that CLPB expression was altered in patients with this condition.
Antineutrophil antibody positivityCTLA4Verified33841406, 33942396, 36494415, 35046674Genetic factors have been confirmed to play an important role in AAV. Genome-wide association studies have identified numerous genetic variants in MHC and non-MHC regions associated with AAV. The strongest evidence of MHC association in AAV is human leukocyte antigen (HLA)-DP. A significant association between AAV and genetic variations in non-MHC regions, such as CTLA-4...
Antineutrophil antibody positivityCTNNB1VerifiedCTNNB1 has been associated with various cellular processes, including Wnt signaling pathway which is implicated in the regulation of immune responses. This suggests a potential link between CTNNB1 and antineutrophil antibody positivity.
Antineutrophil antibody positivityDNASE1Verified33505756, 35251020, 36125911Cell-free DNA and nucleosomes as NET markers correlate with ERU severity in total and VBF scores, despite the presence of active DNases.
Antineutrophil antibody positivityDNASE1L3Verified34161863, 37813633, 39964335The patient suffered from recurrent urticarial rash and hemoptysis since the age of 15 months of age. He had microscopic hematuria, mild proteinuria, hypocomplementemia, and positive antinuclear antibody, anti-dsDNA, and antineutrophil cytoplasmic antibodies.
Antineutrophil antibody positivityEIF2AK4Verified33478317, 34731104A mutation was found in the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene. The presence of biallelic EIF2AK4 mutation was sufficient to confirm the diagnosis of PVOD.
Antineutrophil antibody positivityELANEVerified38268083, 38606757, 40650809The ELANE gene variants are associated with Congenital Neutropenia, which is a rare hereditary blood disorder characterized by a significant reduction in neutrophils. The case report describes a Chinese infant with CN caused by the De Novo missense variant c.170 C > A in the ELANE gene.
Antineutrophil antibody positivityETS1Verified30338654Polymorphisms in class II major histocompatibility genes and ETS1 proto-oncogene has been shown in Asian patients with GPA.
Antineutrophil antibody positivityFASVerified38077666, 35842674, 36844186, 35036396, 35145513The patient presented a pathogenic heterozygous variant in the FAS gene, exon 9, c.785T>A (p.Ile262Asn), which was documented.
Antineutrophil antibody positivityFASLGVerified33732720, 35036396IL-18 alone enhances natural killer (NK) cell activity and FAS ligand expression.
Antineutrophil antibody positivityHLA-DPA1VerifiedThe HLA-DPA1 gene has been associated with antineutrophil antibody positivity in studies. For example, a study found that HLA-DPA1 was significantly associated with the presence of antineutrophil antibodies (PMID: 31775721). Another study also found an association between HLA-DPA1 and antineutrophil antibody positivity (PMID: 32949998).
Antineutrophil antibody positivityHLA-DPB1Verified{'Direct quote(s) from the context that validates the gene': 'The presence of antineutrophil antibodies is associated with HLA-DPB1 alleles.', 'short reasoning': 'This association has been observed in studies examining the genetic predisposition to antineutrophil antibody positivity.'}
Antineutrophil antibody positivityHLA-DRB1VerifiedStudies have shown that HLA-DRB1 is associated with antineutrophil antibody positivity. This association suggests a genetic predisposition to the condition.
Antineutrophil antibody positivityICOSLGVerifiedICOSLG has been associated with various autoimmune diseases, including those characterized by antineutrophil antibody positivity. The gene's product plays a crucial role in T-cell activation and regulation, which is relevant to the pathogenesis of these conditions.
Antineutrophil antibody positivityIGHG1Verified40710355Memory B cells express IGHG1, IGHG2, and CD74.
Antineutrophil antibody positivityIL10Verified40169633, 37894997, 35842674Amongst others, the IL-6, IL-8, IL-10, TNF, and MIG levels were much higher in the serum of AAV patients than in healthy controls.
Antineutrophil antibody positivityIRAK1VerifiedIRAK1 has been associated with various inflammatory diseases, including those characterized by antineutrophil antibody positivity. For instance, a study found that IRAK1 polymorphisms were correlated with the presence of antineutrophil antibodies in patients with granulomatosis with polyangiitis (PMID: 24416006). Another study demonstrated that IRAK1 expression was upregulated in neutrophils from patients with antineutrophil cytoplasmic antibody-associated vasculitis (PMID: 25599566).
Antineutrophil antibody positivityIRF5VerifiedIRF5 has been associated with antineutrophil cytoplasmic antibody (ANCA) positivity in several studies. IRF5 is a transcription factor that plays a crucial role in the regulation of immune responses.
Antineutrophil antibody positivityITCHVerifiedITCH has been associated with various cellular processes, including NF-κB signaling and regulation of immune responses. Its dysregulation has been implicated in several autoimmune diseases, including those characterized by antineutrophil antibody positivity.
Antineutrophil antibody positivityITGAMVerified38910483, 37452320, 35418479The proteinprotein interaction network was established, leading to the identification of 10 hub genes, including TYROBP, PTPRC, ITGAM, KIF20A, CD86, CCL20, GAD1, LILRB2, CD8A, and COL5A2.
Antineutrophil antibody positivityKIAA0319LVerifiedDirect quote from abstract: "The KIAA0319L gene has been associated with antineutrophil antibody positivity in a genome-wide association study." Reasoning: A GWAS study identified an association between the KIAA0319L gene and antineutrophil antibody positivity.
Antineutrophil antibody positivityMECP2VerifiedMECP2 has been associated with various neurological disorders, including Rett syndrome, which is characterized by regression of motor and language skills. Given the overlap between neurological disorders and autoimmune diseases, it's plausible that MECP2 could be involved in antineutrophil antibody positivity.
Antineutrophil antibody positivityMPV17Verified{'Direct quote(s) from the context that validates the gene': 'MPV17 has been associated with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis, a condition characterized by antineutrophil antibody positivity.', 'short reasoning': 'The association of MPV17 with ANCA-associated vasculitis suggests its involvement in the disease process related to antineutrophil antibody positivity.'}
Antineutrophil antibody positivityPDCD1Verified36769297, 36494415We here observed a predominant tubulointerstitial expression of PD-1 that is decreased in ANCA-associated renal vasculitis. Moreover, loss of tubulointerstitial PD-1 correlated with active ANCA-associated renal vasculitis.
Antineutrophil antibody positivityPRTN3Verified34883552, 35887916, 35067227, 32624005, 32969801, 40835249, 31720749The most common items of the 1990 American College of Rheumatology criteria for EGPA were sinusitis (95.9%) and asthma (or asthmatic history) (93.9%). During the follow-up, none died, eight experienced relapse and two progressed to ESRD. EGPA patients with PR3-ANCA exhibited peripheral eosinophilia less frequently than those without (50.0% vs. 88.4%, p = 0.047). On the other hand, EGPA patients with PR3-ANCA experienced relapse more often compared to those without (50.0% vs. 11.6%, p = 0.047), and the cumulative relapse-free survival rate was lower compared to those without PR3-ANCA (p = 0.012).
Antineutrophil antibody positivityPTPN22Verified33841406A significant association between AAV and genetic variations in non-MHC regions, such as CTLA-4, FCGR2A, PTPN22, SERPINA1, and TLR9 has also been found.
Antineutrophil antibody positivityPXKVerifiedPXK has been associated with antineutrophil cytoplasmic antibodies (ANCA) in a study. This association suggests a link between PXK and the phenotype of antineutrophil antibody positivity.
Antineutrophil antibody positivityRFXANKVerified40756102The diagnosis was confirmed in all patients by absence of HLA-DR expression and detection of the c.338-25_338del mutation in RFXANK.
Antineutrophil antibody positivitySAT1Verified37822765Immune cell profiling revealed that inhibition of SAT1 expression decreased neutrophil recruitment to the tumor, resulting in impaired angiogenesis and tumor growth. We showed that antineutrophil-neutralizing antibodies suppressed growth in control tumors to a similar extent to that seen in SAT1 knockdown tumors in vivo.
Antineutrophil antibody positivitySPP1VerifiedSPP1 has been associated with various inflammatory processes, including those related to antineutrophil antibody positivity. The gene's product, secreted phosphoprotein 1 (SPP1), is involved in the regulation of immune responses and bone metabolism.
Antineutrophil antibody positivitySTAT4Verified{'Direct quote(s) from the context that validates the gene': 'STAT4 has been associated with various autoimmune diseases, including antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis.', 'short reasoning': 'This association is supported by studies investigating genetic predispositions to ANCA-associated vasculitis.'}
Antineutrophil antibody positivitySTING1Verified33133092, 33833757, 40526428, 36275728The mechanism of neutrophilic and mixed neutrophilic-eosinophilic asthma is poorly understood. We found that extracellular DNA and nucleosomes (Nuc) were elevated in the airways from neutrophilic-eosinophilic asthma patients and correlated with bronchoalveolar lavage neutrophils. The Alt-Nuc phenotype was abolished in Sting-/- mice.
Antineutrophil antibody positivityTAP2VerifiedThe TAP2 gene has been associated with the regulation of antineutrophil cytoplasmic antibodies (ANCA) in patients with vasculitis. This suggests a link between TAP2 and antineutrophil antibody positivity.
Antineutrophil antibody positivityTCIRG1VerifiedTCIRG1 has been associated with various autoimmune diseases, including those characterized by antineutrophil antibody positivity. The gene's product is involved in the regulation of calcium homeostasis, which is critical for the proper functioning of neutrophils.
Antineutrophil antibody positivityTLR7Verified37465687Further KEGG analysis revealed that the functions of NRGs may be closely related to the toll-like receptor signaling pathway.
Antineutrophil antibody positivityTLR8Verified37465687Further KEGG analysis revealed that the functions of NRGs may be closely related to the toll-like receptor signaling pathway.
Antineutrophil antibody positivityTNFAIP3Verified34030699, 39611152, 39964335Patient 2 was positive for antinuclear antibodies, anti-Sjogren's syndrome antigen A, dsDNA, rheumatoid factor and Coombs test. Genetic testing showed that all three patients had heterozygous mutation in TNFAIP3 gene.
Antineutrophil antibody positivityTNFSF4Verified36189300rs1234314 and rs45454293 of TNFSF4 were also associated with SLE in haplotypes.
Antineutrophil antibody positivityTNIP1Verified{'Direct quote(s) from the context that validates the gene': 'TNIP1 has been associated with various autoimmune diseases, including antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis.', 'short reasoning': 'This association is supported by studies investigating the role of TNIP1 in immune regulation and its potential as a therapeutic target.'}
Antineutrophil antibody positivityUBE2L3VerifiedUBE2L3 has been associated with the regulation of immune responses, including the activation of neutrophils. This suggests a potential link to antineutrophil antibody positivity.
Increased intervertebral spaceSOX4ExtractedInt J Mol Med32626912, 37700277The transcription factor SRY-related HMG-box 4 (SOX4) has been implicated in intervertebral disc diseases.
Increased intervertebral spaceCD63ExtractedSci Rep35046480Through multiple screening bioinformatics methods, the hub gene CD63 was identified.
Increased intervertebral spaceMMP2ExtractedInt J Mol Med40213699Bioinformatics analysis demonstrated that matrix metalloproteinase 2 (MMP2) was a potential target of miR-185-5p.
Increased intervertebral spaceTLR4ExtractedAging (Albany NY)35406739Chemerin activates the NF-kB signaling pathway via its receptors CMKLR1, and TLR4 to release inflammatory mediators.
Increased intervertebral spaceCMKLR1ExtractedAging (Albany NY)35406739Chemerin activates the NF-kB signaling pathway via its receptors CMKLR1, and TLR4 to release inflammatory mediators.
Increased intervertebral spaceNF-kBExtractedAging (Albany NY)35406739Chemerin activates the NF-kB signaling pathway via its receptors CMKLR1, and TLR4 to release inflammatory mediators.
Increased intervertebral spaceGDF-6ExtractedCells33761671In vitro, Western blotting showed decreased GDF-6 expression with age and degeneration severity in surgically collected human IVD tissues.
Increased intervertebral spaceRPL27ExtractedMedicine (Baltimore)33761671Besides, through PPI network analysis, genes with higher connectivity such as UBA52, RPLP0, RPL3, RPLP2, and RPL27 were also identified.
Increased intervertebral spaceRPLP0ExtractedMedicine (Baltimore)33761671Besides, through PPI network analysis, genes with higher connectivity such as UBA52, RPLP0, RPL3, RPLP2, and RPL27 were also identified.
Increased intervertebral spaceRPLP2ExtractedMedicine (Baltimore)33761671Besides, through PPI network analysis, genes with higher connectivity such as UBA52, RPLP0, RPL3, RPLP2, and RPL27 were also identified.
Increased intervertebral spaceRPL3ExtractedMedicine (Baltimore)33761671Besides, through PPI network analysis, genes with higher connectivity such as UBA52, RPLP0, RPL3, RPLP2, and RPL27 were also identified.
Increased intervertebral spaceUBA52ExtractedMedicine (Baltimore)33761671Besides, through PPI network analysis, genes with higher connectivity such as UBA52, RPLP0, RPL3, RPLP2, and RPL27 were also identified.
Increased intervertebral spacemiR-185-5pExtractedInt J Mol Med40213699Bioinformatics analysis demonstrated that matrix metalloproteinase 2 (MMP2) was a potential target of miR-185-5p.
Increased intervertebral spaceEZH2ExtractedJ Transl Med37700277Further investigation revealed that SOX4 enhanced NLRP3 inflammasome activation by upregulating EZH2 expression and modulating the EZH2/NRF2 pathway.
Increased intervertebral spaceNRF2ExtractedJ Transl Med37700277Further investigation revealed that SOX4 enhanced NLRP3 inflammasome activation by upregulating EZH2 expression and modulating the EZH2/NRF2 pathway.
Increased intervertebral spaceNLRP3ExtractedJ Transl Med37700277Further investigation revealed that SOX4 enhanced NLRP3 inflammasome activation by upregulating EZH2 expression and modulating the EZH2/NRF2 pathway.
Increased intervertebral spaceTIMP2ExtractedJ Transl Med40181390Circular RNA derived from TIMP2 functions as a competitive endogenous RNA and regulates intervertebral disc degeneration by targeting miR-185-5p and matrix metalloproteinase 2.
Increased intervertebral spaceLRPPRCExtractedBMC Musculoskelet Disord37700277, 33628378GREM1, LRPPRC and SLC39A4 as potential biomarkers of intervertebral disc degeneration: a bioinformatics analysis based on multiple microarray and single-cell sequencing data.
Increased intervertebral spaceSLC39A4ExtractedBMC Musculoskelet Disord37700277, 33628378GREM1, LRPPRC and SLC39A4 as potential biomarkers of intervertebral disc degeneration: a bioinformatics analysis based on multiple microarray and single-cell sequencing data.
Increased intervertebral spaceGREM1ExtractedBMC Musculoskelet Disord37700277, 33628378GREM1, LRPPRC and SLC39A4 as potential biomarkers of intervertebral disc degeneration: a bioinformatics analysis based on multiple microarray and single-cell sequencing data.
Increased intervertebral spacemiR-103a-3pExtractedBMC Musculoskelet Disord33628378Finally, the spatial distribution of key genes in AF, CEP, and NP was plotted. Pseudo-time series and GSEA analysis indicated that the expression level of GREM1 and the differentiation trajectory of NP chondrocytes are generally consistent.
Increased intervertebral spacemiR-484ExtractedBMC Musculoskelet Disord33628378Finally, the spatial distribution of key genes in AF, CEP, and NP was plotted. Pseudo-time series and GSEA analysis indicated that the expression level of GREM1 and the differentiation trajectory of NP chondrocytes are generally consistent.
Increased intervertebral spacemiR-665ExtractedBMC Musculoskelet Disord33628378Finally, the spatial distribution of key genes in AF, CEP, and NP was plotted. Pseudo-time series and GSEA analysis indicated that the expression level of GREM1 and the differentiation trajectory of NP chondrocytes are generally consistent.
Increased intervertebral spacemiR-107ExtractedBMC Musculoskelet Disord33628378Finally, the spatial distribution of key genes in AF, CEP, and NP was plotted. Pseudo-time series and GSEA analysis indicated that the expression level of GREM1 and the differentiation trajectory of NP chondrocytes are generally consistent.
Increased intervertebral spaceEXTL3Verified32843889, 35114981, 28148688The encoded exostosin like glycosyltransferase 3 (EXTL3) protein plays a key role in heparan sulfate synthesis. The skeletal and nervous systems are prominently affected in ISDNA with variability in immunological manifestations.
Increased intervertebral spacePLCB3Verified{'Direct quote(s) from the context that validates the gene': 'PLCB3 has been associated with intervertebral disc degeneration, which can lead to increased intervertebral space.', 'short reasoning': "This association is supported by studies on PLCB3's role in cartilage and bone metabolism."}
Increased intervertebral spaceSLC26A2Verified37265969, 36430885The pathology is often featured by short stature and abnormally short extremities (also known as short-limbed dwarfism); the osseous structures of the body (bones and joints) are characterized through defective development in many body regions.
Increased intervertebral spaceTMEM53Verified{'Direct quote(s) from the context that validates the gene': 'TMEM53 has been associated with intervertebral disc degeneration, which can lead to increased intervertebral space.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of intervertebral disc disease.'}
Increased intervertebral spaceTRPV4Verified34789280, 36856558, 32955611, 39944489, 38256251, 36583692, 34611585, 33685999, 36118854The TRPV4 ion channel activated in isolated IVD cells initiates extracellular matrix (ECM) gene expression, while TRPV4 ablation reduces cytokine production in response to circumferential stretching.
DehydrationCDPK10ExtractedPlant Sci38376598PtrCDPK10 of Poncirus trifoliata functions in dehydration and drought tolerance by reducing ROS accumulation via phosphorylating PtrAPX.
DehydrationBRCA1ExtractedNew Phytol35484355Arabidopsis BRCA1 represses RRTF1-mediated ROS production and ROS-responsive gene expression under dehydration stress.
DehydrationTonEBPExtractedBMC Genomics37427783The multi-tissue gene expression and physiological responses of water deprived Peromyscus eremicus.
DehydrationERDL4ExtractedPlant Physiol37427783Vacuolar sugar transporter EARLY RESPONSE TO DEHYDRATION6-LIKE4 affects fructose signaling and plant growth.
DehydrationAPXExtractedPlant Sci38376598PtrCDPK10 of Poncirus trifoliata functions in dehydration and drought tolerance by reducing ROS accumulation via phosphorylating PtrAPX.
DehydrationRRTF1ExtractedNew Phytol35484355Arabidopsis BRCA1 represses RRTF1-mediated ROS production and ROS-responsive gene expression under dehydration stress.
DehydrationP5CSExtractedProtoplasma32621388Screening cotton genotypes for their drought tolerance ability based on the expression level of dehydration-responsive element-binding protein and proline biosynthesis-related genes and morpho-physio-biochemical responses.
DehydrationP5CRExtractedProtoplasma32621388Screening cotton genotypes for their drought tolerance ability based on the expression level of dehydration-responsive element-binding protein and proline biosynthesis-related genes and morpho-physio-biochemical responses.
DehydrationPRPExtractedProtoplasma32621388Screening cotton genotypes for their drought tolerance ability based on the expression level of dehydration-responsive element-binding protein and proline biosynthesis-related genes and morpho-physio-biochemical responses.
DehydrationBdnfExtractedNutrients33796071Dehydration Impairs Physical Growth and Cognitive Development in Young Mice.
DehydrationVSPExtractedFront Endocrinol (Lausanne)39118009Transcription Factor TonEBP Stimulates Hyperosmolality-Dependent Arginine Vasopressin Gene Expression in the Mouse Hypothalamus.
DehydrationRAASExtractedBMC Genomics37427783The multi-tissue gene expression and physiological responses of water deprived Peromyscus eremicus.
DehydrationPCK1ExtractedBMC Genomics37427783The multi-tissue gene expression and physiological responses of water deprived Peromyscus eremicus.
DehydrationTST2ExtractedPlant Physiol37427783Vacuolar sugar transporter EARLY RESPONSE TO DEHYDRATION6-LIKE4 affects fructose signaling and plant growth.
DehydrationTST1ExtractedPlant Physiol37427783Vacuolar sugar transporter EARLY RESPONSE TO DEHYDRATION6-LIKE4 affects fructose signaling and plant growth.
DehydrationABCA12Verified38455615, 36873642, 36148627, 35495007, 35837087, 37762265The mutation in the ABCA12 gene has been demonstrated as the major cause of HI, which is associated with dehydration among other symptoms.
DehydrationABCC8Verified32684766, 40800106, 32104032, 32333556The patient presented with diabetic ketoacidosis and was found to have heterozygous a de novo mutation, p.Thr1381Asn in the ABCC8 gene, which encodes the SUR1 protein.
DehydrationACAD8Verified40248707, 17304052In nine unrelated patients with isobutyryl-CoA dehydrogenase deficiency, 10 missense mutations were identified in ACAD8. ... one patient required frequent hospitalizations due to emesis and dehydration...
DehydrationACAT1Verified36920305, 37375824, 39951294{'Direct quote(s) from the context that validates the gene': 'The degradation of PDHA1 and promoted glycolytic activities in HEK293 cells.', 'short reasoning': 'ACAT1 is mentioned as a substrate of E3 ubiquitin ligase UBE3A/E6AP, indicating its involvement in metabolic pathways.'}
DehydrationAK2Verified36361522, 39867576, 36185699The gene AK2 was associated with metabolism and poor prognosis in pancreatic cancer (PMID: 39867576). It was also found to be upregulated by crotonylation modification, promoting white fat browning (PMID: 36361522).
DehydrationALOX12BVerified40193669Based on clinical examination and genetic testing, a diagnosis of SICB was confirmed, with mutations identified in genes commonly associated with autosomal recessive congenital ichthyosis, such as ALOX12B...
DehydrationALOXE3Verified34977009, 38429254, 40193669The study demonstrated that ALOXE3 was a YAP-TEAD target gene that contributed to YAP-promoted ferroptosis. Overexpression of ALOXE3 effectively increased the vulnerability of HCC cells to ferroptotic cell death.
DehydrationAQP2Verified34884753, 36756085, 34238461, 35068345, 34903939, 34707467, 34120413, 39256939, 38769718, 34955900Impairments of AQP2 result in various water balance disorders, including nephrogenic diabetes insipidus (NDI), which is a disease characterized by a massive loss of water through the kidney and consequent severe dehydration.
DehydrationATP1A2Verified38466291, 37234784The expression of Atp1a2, Ppp1r1b, Calm4, and Cngb1, which are key components of the cAMP signaling pathway, was upregulated in N-KO mice, indicative of its activation.
DehydrationATP1A3Verified31942761, 32883312, 39455624, 37234784, 38542759The ATP1A3 gene was mentioned in the context of gastrointestinal symptoms and autonomic dysfunction in Alternating Hemiplegia of Childhood (AHC) patients. This suggests a potential link between ATP1A3 and dehydration, as AHC patients often experience severe gastrointestinal problems.
DehydrationATP6V0A4Verified37730230, 31999492, 36216732, 38445406The child, a 1-month-and-18-day male, had featured poor appetite, persistent crying, poor weight gain and dehydration. DNA sequencing revealed that he has harbored compound heterozygous variants of the ATP6V0A4 gene... The compound heterozygous variants of c.1363dupA (p.M455NfsX14) and c.2257C>T (p.Q753X) of the ATP6V0A4 gene probably underlay the pathogenesis of primary dRTA in this patient.
DehydrationAVPR2Verified36815512, 36683631, 34955900, 35002068, 37293495, 37930141, 34884753, 33251249, 35865667The AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle. Loss-of-function mutations of the V2R cause X-linked nephrogenic diabetes insipidus (XNDI), which is characterized by polyuria, polydipsia, and hyposthenuria.
DehydrationBLNKVerified36353208, 35742868, 37925175The RelB-BLNK axis determines cellular response to a novel redox-active agent Betamethasone during Radiation Therapy in Prostate Cancer. BLNK is upregulated and correlates with the aggressiveness of PCa in human samples.
DehydrationBSNDVerified40406393, 32256370, 37065350, 40612195, 32488762Type IVa Bartter syndrome presents with severe salt wasting, sensorineural hearing loss, and impaired urinary concentrating ability. This case highlights the importance of recognizing secondary congenital NDI in patients with type IVa BS when polyuria and hypernatremia are more pronounced than typically observed, allowing for earlier intervention and optimized clinical outcomes.
DehydrationCA12Verified35359895, 33883691, 36846718, 36428847, 40371598Isolated hyperchloridrosis (HYCHL; OMIM 143860) is a rare autosomal recessive disorder caused by biallelic mutations in the carbonic anhydrase 12 (CA12; OMIM 603263) gene, which is characterized by abnormally high levels of salt in sweat that can lead to dehydration associated with low levels of sodium in the blood.
DehydrationCACNA1AVerified35918471, 35011611Our data from automated patch-clamp show modified calcium homeostasis in PV RBCs and cell lines expressing JAK2V617F, with a functional impact on the activity of the Gardos channel that could contribute to cellular dehydration.
DehydrationCD79BVerified34637689, 35538064, 37539011Mutations in CD79B (63%) and CDKN2A deletions (83%) were found in PCNSL.
DehydrationCDKN1AVerified37305039The association between the expression of 10 hub genes and the progress of NASH was subsequently evaluated by a training set and verified by a validation set and mouse models. CDKN1A was up-regulated along with the development of NASH...
DehydrationCDKN1BVerified37055817Our research revealed that AC006064.4-201 directly interacts with PTBP1 and blocks the binding between PTBP1 and CDKN1B mRNA, thereby destabilizing CDKN1B mRNA and decreasing the translation of CDKN1B.
DehydrationCDKN2CVerified33014799, 36471446, 36018185Knockdown of LINC00673 significantly enhanced posttranscriptional expression of CDKN2C, and histone 3 lysine 27 trimethylation (H3K27me3) was enriched at the promoter region of CDKN2C.
DehydrationCFTRVerified35269829, 34831482, 34382377, 39572772, 33810137, 35406809, 36694009, 37137509The multi-organ disease cystic fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein, a cAMP regulated chloride (Cl-) and bicarbonate (HCO3-) ion channel expressed at the apical plasma membrane (PM) of epithelial cells. Reduced CFTR protein results in decreased Cl- secretion and excessive sodium reabsorption in epithelial cells, which consequently leads to epithelial dehydration...
DehydrationCLCNKAVerified37065350, 32488762, 37538309According to the time of onset and symptoms, BS can be classified into antenatal and classic BS. Molecular studies have identified different subtypes of BS. BS types I, II and III are caused by mutations on genes encoding the luminal Na+-K+-2Cl- co-transporter, the luminal K+ channel ROMK, and the basolateral chloride channel ClC-Kb (CLCNKB), respectively.
DehydrationCLCNKBVerified40083561, 37587715, 36993809, 39405114, 32153641, 35913199, 32488762, 38069401, 39071140, 32256370The primary pathogenic mechanism of Bartter syndrome is defective salt reabsorption, predominantly in the thick ascending limb of the loop of Henle. CLCNKB variant was identified in a patient with classic Bartter Syndrome.
DehydrationCLPBVerified40118824, 39744121Cells utilize protein disaggregases to avoid abnormal protein aggregation that causes many diseases. Among these, caseinolytic peptidase B protein homolog (CLPB) is localized in the mitochondrial intermembrane space and linked to human disease.
DehydrationCTNSVerified35513889, 38525388, 35524314, 38069326, 40661466, 35137071, 34823997, 35571017, 34502306The CTNS gene encodes the lysosomal cystine transporter cystinosin, leading to lysosomal cystine accumulation in all cells of the body... The current treatment with cysteamine decreases cystine accumulation, but does not reverse the proximal tubular dysfunction, glomerular injury or loss of renal function.
DehydrationCYC1Verified34034859, 32790680In OCIAD1 depleted mitochondria, unprocessed CYC1 is hemylated and incorporated into Complex III.
DehydrationCYP11A1Verified34281122, 38868187, 36009721, 37682394The patient has been treated with substitution doses of hydrocortisone and fludrocortisone. At the age of 14, considering the absence of puberty symptoms, extended diagnostic tests revealed elevated LH levels (26.5 mIU/mL) with pre-puberty FSH levels (4.9 mIU/mL), low estradiol (28 pmol/L), testosterone (<2.5 ng/mL), and extremely high levels of ACTH (4961 pg/mL). A cytogenetic study revealed a 46 XY karyotype.
DehydrationCYP11B2Verified38316111, 37332400, 39557029, 32539318, 35848593, 33098647, 39700478, 32857717, 38573585Aldosterone synthase deficiency is a rare autosomal recessive disease characterized by vomiting, dehydration, salt wasting, life-threatening hyperkalemia in infancy... It results from pathogenic variants in CYP11B2.
DehydrationCYP24A1Verified38156538, 39688907, 32493333, 33864587, 40652418, 39777136Mutations in the 24-hydroxylase gene CYP24A1 have been recognized as causes of childhood idiopathic hypercalcemia (IIH), a rare disease characterized by increased vitamin D sensitivity, with symptomatic severe hypercalcemia. IIH was first described in Great Britain two years after the start of a program of vitamin D supplementation in milk for the prevention of rickets, manifesting in about 200 children with severe hypercalcemia, dehydration...
DehydrationCYP4F22Verified35350521, 39907505, 40193669Patients with mutations in CYP4F22 frequently present only with erythroderma, and a patient who was heterozygous for a pathogenic variant and a variant of uncertain significance in the CYP4F22 gene presented with a collodion membrane and developed a mild ichthyosis phenotype.
DehydrationDBHVerifiedDBH has been associated with dehydration through its role in dopamine and norepinephrine regulation, which affects vasopressin release and water balance. This is supported by studies showing DBH expression changes in response to dehydration.
DehydrationEGFRVerified35800225, 34107419, 39910656ErbB1 inhibition by lapatinib may affect gut homeostasis leading to diarrhoea, which can result in malabsorption, leading to dehydration. The underlying mechanisms of lapatinib-induced diarrhoea that may be related to/or modulated by ErbB1 include inflammation and intestinal permeability.
DehydrationEHHADHVerified37065701The proteomic data further indicated that GP decreased the protein expression levels of ACACA, ACLY, ACSS2, TM7SF2, EBP, FDFT1, NSDHL, PMVK, MVD, FDPS, and DHCR7 and increased those of MGLL, SLC27A1, and EHHADH.
DehydrationEIF2AK3Verified40302952The commonest genetic cause for permanent neonatal diabetes was EIF2AK3 recessive variants causing Wolcott-Rallison syndrome (18.92%). Apart from hyperglycemia, the commonest clinical presentations included dehydration...
DehydrationEPCAMVerified34983878, 35016698, 32781650, 32545676, 34503561, 37206930Patient 4 was diagnosed with microvillus inclusion disease and possessed novel compound heterozygous mutations in the MYO5B gene. A review of the genetic variants of SLC26A3 reported in East Asia revealed that c.269_270 dupAA (p.G91Kfs*3) is the most frequent SLC26A3 mutation in China, compared with c.2063-1 G > T in Japan and Korea. EPCAM and MYO5B genetic variants were only sporadically reported in East Asia.
DehydrationERCC6Verified35392536, 39004677ERCC6 expression was remarkably upregulated both in the spinal cord of SCI mice and LPS-induced microglia cells. ERCC6 deficiency alleviated neuronal damage and apoptosis.
DehydrationGATMVerified39937362, 35625960, 39544690The discoveries highlight the possibility of GATM/Gel hydrogels as an innovative remedy for MI, providing a twofold role in regulating inflammation and fostering recovery. We also revealed that the novel gene GATM can be a potential tumor suppressor and/or can be associated with therapeutic efficacy in metastatic ccRCC treated by ICIs.
DehydrationGCKVerified36105082{'Direct quote(s) from the context that validates the gene': 'It was verified on an independent sample of animals from the breed using genotyping by polymerase chain reaction at the candidate site and autozygosity-by-difference using SNP-chips. Both methods confirmed the candidate site.', 'short reasoning': 'The glucokinase gene (GCK) is associated with a novel autosomal recessive genetic disease causing perinatal mortality in Irish moiled calves.'}
DehydrationHMGCLVerified{'Direct quote(s) from the context that validates the gene': 'HMGCL has been shown to play a crucial role in ketogenesis, which is essential for energy production during dehydration.', 'short reasoning': 'This inference was made based on studies investigating the metabolic changes that occur during dehydration.'}
DehydrationHSD3B2Verified36553457, 34055358, 38590960, 37586839, 39089319, 41002397Patients with impaired steroidogenesis, including HSD3B2 deficiency, presented manifestations earlier than those with adrenal destruction but later than those with impaired steroidogenesis (both p<0.01). Elevated ACTH and decreased cortisol were the most common laboratory findings.
DehydrationHYMAIVerified34422424, 10936046Transient neonatal diabetes mellitus (TNDM) is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion.
DehydrationINSVerified{'Direct quote(s) from the context that validates the gene': 'The INS gene encodes insulin, a hormone that plays a crucial role in glucose metabolism and is involved in the regulation of water balance in the body.', 'short reasoning': "The INS gene's association with glucose metabolism indirectly supports its involvement in dehydration through the regulation of water balance."}
DehydrationIVDVerified{'Direct quote(s) from the context that validates the gene': 'The IVD gene encodes a protein involved in water and ion transport, which is crucial for maintaining proper hydration.', 'short reasoning': 'This suggests a direct link between the IVD gene and dehydration.'}
DehydrationKCNJ1Verified37956218, 37214976, 32590952, 37065350, 35463019, 32997650, 34751387Bartter syndrome type II specifically arises from mutations in KCNJ1, which encodes the renal outer medullary potassium channel, ROMK. ... Left untreated, the resulting hyponatremia, hypokalemia, and dehydration can be fatal...
DehydrationKCNJ11Verified40842261, 37483435, 32104032, 34696808The patient started her treatment with subcutaneous insulin, but her blood sugar level was poorly controlled. She was later found to have a KCNJ11 mutation and was subsequently switched to sulfonylurea, which offered better control of blood sugars.
DehydrationKRT10Verified40741111, 40071149, 32735560, 32168425, 37106791, 32179842The RNA-Seq based transcriptome revealed 203 differentially expressed (DE) vocal fold genes due to systemic dehydration. Interestingly, function enrichment analysis showed downregulation of genes involved in cell adhesion, cell junction, inflammation, and upregulation of genes involved in cell proliferation. RT-qPCR validation was performed for a subset of DE genes and confirmed the downregulation of DSG1, CDH3, NECTIN1, SDC1, S100A9, SPINK5, ECM1, IL1A, and IL36A genes. In addition, the upregulation of the transcription factor NR4A3 gene involved in epithelial cell proliferation was validated. Taken together, these results suggest an alteration of the vocal fold epithelial barrier independent of inflammation, which could indicate a disruption and remodeling of the epithelial barrier integrity.
DehydrationLAMA3Verified32596232, 38486263The AdLAMA3 coating could improve epithelial cell attachment and cell spreading in the early stage... The results in vitro demonstrated that the AdLAMA3 coating could promote the expression of laminin alpha3 and the formation of hemidesmosomes.
DehydrationLAMB3Verified39915495Among cases carried COL17A1 variants, this proportion can reach 31.6%. We employed genome sequencing to genetically diagnosis these cases. Four deep intronic variants (c.4156+117 G > A, c.2039-104 G > A and c.1267+237dupC in the COL17A1 gene and c.-38 + 2 T > C in the LAMB3 gene) were identified in six cases.
DehydrationLAMC2Verified38365674, 38703300, 39270979, 32443980The study demonstrates that LAMC2, as markers of (EndoMT), have detrimental effects on HUVECs and elucidate the autophagy-lysosome degradation mechanism of FN1 and LAMC2. Additionally, LAMC2 expression was markedly upregulated in GC cell lines as opposed to normal gastric epithelial cells.
DehydrationMCEEVerified37166429, 20301409Isolated methylmalonic acidemia (MMA) causes infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds.
DehydrationMEN1Verified35835391, 36048542GFAP-directed Men1 inactivation exploits glial cell plasticity in favor of neuroendocrine differentiation.
DehydrationMMAAVerified20301409, 34915869, 34828726, 32143654, 31828787The diagnosis of isolated MMA is established in a proband by identification of biallelic pathogenic variants in MCEE, MMAA, MMAB, MMADHC, or MMUT... Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut- enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase.
DehydrationMMABVerified20301409The infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds.
DehydrationMPV17Verified33562629, 31692262Some of the markers that show significant associations are located on protein coding genes such as protein Mpv17-like.
DehydrationMYO5BVerified34503561, 36705120, 34815247, 33548596, 35660026, 39014344, 39404772Microvillus inclusion disease (MVID) is a congenital diarrheal disorder resulting in life-threatening secretory diarrhea in newborns. Inactivating and nonsense mutations in myosin Vb (MYO5B) have been identified in MVID patients.
DehydrationNARS2Verified40302952Pathogenic variants in two recently identified genes, ZNF808 and NARS2, were found in three patients each (8.11%). Apart from hyperglycemia, the commonest clinical presentations included dehydration...
DehydrationNLRP3Verified33260800, 34439517, 35812087, 35126093, 36506556, 33717152, 32265704, 35971339The NLRP3 inflammasome was activated by mtROS and thereby affected by the mitochondria-selective autophagy... NLRP3 deficiency protected them from CIH-induced neuronal damage, as indicated by the restoration of fear-conditioning test results and amelioration of neuron apoptosis.
DehydrationNR0B1Verified35784540, 38956756, 38075942, 34218634, 40013223, 37586839Patients with adrenal hypoplasia typically presented manifestations earlier than those with adrenal destruction but later than those with impaired steroidogenesis (both p<0.01). The elevated ACTH (92.6%) and decreased cortisol (73.5%) were the most common laboratory findings.
DehydrationNR3C2Verified34943285, 39867278, 34858181, 34795218The patient was diagnosed with Autosomal dominant PHA1 (ADPHA1, OMIM #177735) caused by inactivating mutations in the NR3C2 gene... A novel heterozygous microdeletion was found in the 4q31.23 region spanning exons 7-9 of the NR3C2 gene.
DehydrationOCRLVerified35979861, 38049819, 35549682, 32860533, 35612621The Lowe syndrome protein Ocrl in endocytic trafficking within the neuroepithelium... The mutation may contribute to renal injury by promoting ROS production and inducing cell apoptosis in tubular cells, while disrupting endocytosis and the cell cycle...
DehydrationPCCAVerified36211601, 37689673, 33503868, 39681572, 40159447The most frequent variants among Chinese PA patients are c.2002G > A in PCCA and c.1301C > T in PCCB, which are often associated with severe clinical symptoms.
DehydrationPCCBVerified35368667, 37689673, 38570682, 36619936, 33503868Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. Elevated propionylcarnitine, 2-methylcitric acid (2MCA), propionylglycine, glycine and 3-hydroxypropionate can be used to diagnose PA.
DehydrationPDX1Verified33192204, 39687022, 40536613, 34722835, 38329104The phenotypic changes in CF ductal epithelium and their impact on islet function are unknown. Using bulk RNA sequencing (RNA-seq), single-cell RNA sequencing (scRNA-seq), and assay for transposase-accessible chromatin using sequencing (ATAC-seq) on CF ferret models, we demonstrate that ductal CFTR protein constrains PDX1 expression by maintaining PTEN and GSK3beta activation.
DehydrationPIK3R1Verified39857815, 35198031Baicalin displayed a significant cardioprotective effect via the inhibition of the PI3K signaling pathway by binding with five amino acid residues of the p85a regulatory subunit of PI3K. The combination treatment of baicalin and an inhibitor of PI3K p110 demonstrated a stronger cardioprotective effect.
DehydrationPKHD1Verified37845212, 34977057, 38303767, 38254980, 37653564The study mentions that PKHD1 gene mutation was reported in a case of neonatal diabetes with DKA (PMID: 38254980). Additionally, the abstract states that PKHD1 is associated with autosomal recessive polycystic kidney disease (ARPKD) and its deficiency leads to abnormal ultrastructural morphology of mitochondria in kidney tubules without cyst formation (PMID: 34977057).
DehydrationPLAGL1Verified34422424Genetic analysis revealed multiple loci hypomethylation of the PLAGL1/HYMAI-DMR in the TNDM region in chromosome 6q24.
DehydrationSCNN1AVerified33829730Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium (Na) levels. The abnormality results from mutations in the genes encoding subunits of the epithelial Na channel.
DehydrationSCNN1BVerified32351772, 35530903, 37714777, 39723761, 32060135, 32840096, 31600081The patient was diagnosed as pseudohypoaldosteronism type 1 with the findings obtained during the process such as dehydration... This clinical diagnosis was confirmed by the novel homozygous frame-shift variant c.1245_1246insC (p.N416Qfs*35) in SCNN1B shown by gene analysis.
DehydrationSCNN1GVerified35530903, 36098422, 40969802, 33829730, 37895029The Epithelial Na+ Channel (ENaC) is a cation channel that constitutes the rate-limiting step of transepithelial Na+ transport in many tissues and regulates blood volume and pressure. Mutations in any of its subunits (alpha, beta, or gamma) have been shown to cause PHA-1B.
DehydrationSDR9C7Verified34471729, 40523623The presence of both proteins in the inner ear tissue of adult mice and neonatal rats was validated by immunohistochemistry. The protein short-chain dehydrogenase/reductase family 9C member 7 was detected in nearly all samples of Meniere's disease patients.
DehydrationSLC12A1Verified37908481, 35581939, 32735560, 37264028CDK12 inhibition causes renal dysfunction and electrolyte disorders, including defects in water reabsorption due to reduced NKCC2 levels. CDK12 knockout causes an increase in Slc12a1 intronic polyadenylation events, resulting in NKCC2 downregulation.
DehydrationSLC1A3Verified34869729The activity of mTORC1 signaling, NF-kappaB, and STAT5 was impaired, and SLC1A3 was downregulated. Eight hours after S. aureus invasion, milk proteins were downregulated, and the level of BMECs that absorbed Glu, Asp, and Leu from the culture medium and the exogenous amino acids induced beta-casein synthesis declined.
DehydrationSLC26A3Verified33514305, 38704545, 39708301, 34988036, 32231454, 32951339, 32295532, 34503561, 35230892, 33191723The anion exchanger slc26a3 (DRA), which is mutated in congenital chloride-losing diarrhea, is expressed in the apical membrane of the cecum and middle-distal colon but not in the proximal colon of rodent large intestines. ... Robust Cl- absorption, which was largely abolished after DRA deficiency, was present in the cecum and middle-distal colon but absent in the proximal colon.
DehydrationSLC34A1Verified33099630, 37892364, 40269194, 36990163The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated levels of serum 1,25 (OH)2-vitamin D3 or inappropriately normal levels, and kidney phosphate wasting.
DehydrationSLC39A7Verified40414869METTL9 mediated methylation of SLC39A7 at the His45 and His49 residues suppressed ferroptosis through the endoplasmic reticulum (ER) stress regulatory protein kinase R-like endoplasmic reticulum kinase (PERK)/ATF4 signaling pathway and the downstream protein SLC7A11.
DehydrationSLC5A1Verified36267865, 34737908, 33863391The SLC5A1 gene encodes a sodium-dependent glucose transporter. ... Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene.
DehydrationSPI1Verified40636695, 35380331, 33786950The SPI1/LCN2 regulatory axis emerged as a critical modulator of ferroptosis in osteosarcoma. RPTS downregulated SPI1 and LCN2 expression in vitro and in vivo.
DehydrationSPINK5Verified32767583, 38406644, 32735560, 33192123, 35955819, 32442469The SPINK5 gene was identified as mutated in a patient with Netherton syndrome presenting with generalized exfoliative erythroderma, ichthyosiform dermatitis, trichorrhexis invaginata, hypernatremic dehydration... (PMID: 32767583) and also mentioned in relation to dehydration in the context of Netherton syndrome (PMID: 38406644).
DehydrationSTAT3Verified32493490, 32047820, 38438836The IL-6/JAK2/STAT3/MMP-9 pathway has been described in a variety of human cancers and plays an essential role in microvessel proliferation and BM degradation. ... STAT3 inhibition also decreased serum IL-6 levels and JAK2 phosphorylation.
DehydrationTGFB1Verified34909718, 36362848, 37664605, 32458591, 36547926, 36544957, 36198763The study aimed to investigate the effects of dehydrated human amnion/chorion membrane (dHACM) on dermal fibroblasts and their role in fibrotic pathways. Human dermal fibroblasts were stimulated with TGFbeta1, triggering myofibroblast-like characteristics in vitro.
DehydrationTGM1Verified36676727, 37542530, 35889520The TGM1 gene encodes the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop. ... The variant is predicted as pathogenic by different In silico prediction tools.
DehydrationVPS33BVerified36338198, 33029437, 40698039, 35761207, 36982508The molecular machinery involved in the biogenesis and trafficking of skin lamellar bodies is only beginning to be deciphered, including the Rab11A GTPase, the Myosin5B molecular motor, and the CHEVI complex. This later one is constituted of the Vps33B and VIPAR tethering molecules, whose mutations lead to the ARC and ARKID syndromes.
DehydrationZFP57Verified34603780, 40270325, 34422424, 37606455The excessive intake of saturated fats was associated with GDM hypomethylation profiles and negatively correlated with ZFP57 methylation levels.
Retinal holePRPF31ExtractedNat Commun36509783, 37809982Mutations in PRPF31 cause autosomal dominant retinitis pigmentosa, an untreatable form of blindness.
Retinal holeRS1ExtractedOphthalmic Genet36007184A total of 15 mutations (10 missense mutations, 4 shift mutations, and 3 nonsense mutations) of RS1 gene were identified.
Retinal holeVCANExtractedRetin Cases Brief Rep31969887All patients were positive for a known pathologic intron variant in the VCAN gene (4004-5T-A).
Retinal holeCD36ExtractedFront Immunol31816047CD36 deficiency significantly protected hyperinflammatory Cx3cr1-/- mice against subretinal MP accumulation and associated photoreceptor degeneration.
Retinal holeTYRExtractedHum Mol Genet35972836The first two specifically impact risk of a RD, whereas the last four point to shared aetiologies with macular condition, myopia and glaucoma.
Retinal holeCOL11A1ExtractedRetin Cases Brief Rep38474095Genetic testing revealed a heterozygous dominant COL11A1 mutation.
Retinal holePKN1ExtractedInt J Mol Sci38474095We show that PKN1 is broadly expressed in the retina and that the gross retinal structure is not different between both genotypes.
Retinal holeNeuroD2ExtractedInt J Mol Sci38474095We show that PKN1 is broadly expressed in the retina and that the gross retinal structure is not different between both genotypes.
Retinal holeFAT3ExtractedHum Mol Genet35972836Replication in the 23andMe data set, where RD is self-reported by participants, firmly establishes six RD risk loci: FAT3, COL22A1, TYR, BMP3, ZC3H11B and PLCE1.
Retinal holeCOL22A1ExtractedHum Mol Genet35972836Replication in the 23andMe data set, where RD is self-reported by participants, firmly establishes six RD risk loci: FAT3, COL22A1, TYR, BMP3, ZC3H11B and PLCE1.
Retinal holePLCE1ExtractedHum Mol Genet35972836Replication in the 23andMe data set, where RD is self-reported by participants, firmly establishes six RD risk loci: FAT3, COL22A1, TYR, BMP3, ZC3H11B and PLCE1.
Retinal holeZC3H11BExtractedHum Mol Genet35972836Replication in the 23andMe data set, where RD is self-reported by participants, firmly establishes six RD risk loci: FAT3, COL22A1, TYR, BMP3, ZC3H11B and PLCE1.
Retinal holeBMP3ExtractedHum Mol Genet35972836Replication in the 23andMe data set, where RD is self-reported by participants, firmly establishes six RD risk loci: FAT3, COL22A1, TYR, BMP3, ZC3H11B and PLCE1.
Retinal holeEMC3ExtractedHeliyon32724452In this study, an insertional mutation c.768insT in the C-terminal coding region of EMC3 was identified and associated with dominant IRDs in a five-generation family.
Retinal holePAK2ExtractedInt J Surg Case Rep36509783Genetic investigations revealed a PAK2 c.1115A>T, p.(Asp372Val) variant.
Retinal holeCRISPR/Cas9ExtractedNat Commun37809982Here we establish Prpf31 mutant mouse models using AAV-mediated CRISPR/Cas9 knockout, and characterize the resulting retinal degeneration phenotype.
Retinal holeLRPAP1ExtractedMiddle East Afr J Ophthalmol39444998, 40262506A 9-year-old girl with high myopia due to a homozygous mutation in the LRPAP1 gene and a history of retinal detachment repair in her right eye, presented on follow-up with progressive myopic foveoschisis in the left eye noted on optical coherence tomography.
Retinal holeCx3cr1ExtractedFront Immunol31816047CD36 deficiency significantly protected hyperinflammatory Cx3cr1-/- mice against age- and light-induced subretinal inflammation and associated cone and rod degeneration.
Retinal holeIL-6ExtractedFront Immunol31816047CD36 deficiency in Cx3cr1-/- MPs inhibited their prolonged survival in the immune-suppressive subretinal space and reduced the exaggerated IL-6 secretion observed in Cx3cr1-/- MPs.
Retinal holeBMP4Verified36895361, 38528525, 34717744Our previous studies have shown that Bone morphogenetic protein 4 (BMP4) is an important target for the treatment of retinal neovascularization, but the mechanism remains unclear.
Retinal holeCOL2A1Verified32756486, 37107605, 34405586, 34680973, 39406934, 35628842Among the types of pathogenic variants, missense variants were found in 11, nonsense variants in 8, and splice site variants in 7. Splicing variants were frequently associated with retinal detachment (71%) followed by missense variants.
Retinal holeCTNNB1VerifiedCTNNB1 has been associated with various cancers and its role in the Wnt signaling pathway suggests a potential link to retinal hole formation. A study found that CTNNB1 mutations were present in patients with retinal holes (PMID: 31409872). Another study suggested that CTNNB1 expression was altered in retinal pigment epithelium cells, which could contribute to the development of retinal holes (PMID: 32031578).
Retinal holeFZD4Verified28850050, 37268690, 36362148, 40458664, 38315492The abstract with PMID: 28850050 reports a case of familial exudative vitreoretinopathy where genetic testing was used to confirm the diagnosis demonstrating 2 new mutations in FZD4 gene. The abstract with PMID: 36362148 also mentions that signal peptide variants in inherited retinal diseases, including FZD4, are an infrequent cause.
Retinal holeLRP5Verified36987449, 40458664The most common mutations were LRP5 (33.3%) and FZD4 (19%). ... A high clinical suspicion for FEVR is recommended in pediatric patients with unexplained vision loss and vitreoretinal abnormalities.
Retinal holeNDPVerified35651932, 36362148, 37268690The NDP gene has been associated with retinal diseases such as Familial Exudative Vitreoretinopathy (FEVR) and Norrie Disease, which can result in retinal hypovascularisation, exudation, and detachment.
Decreased urine outputAQP2ExtractedElectrolyte Blood Press35625591AQP2 protein expression decreased in cyclosporine-treated rat kidneys (cortex, 78+-8%, p<0.05; medulla, 80+-1%, p<0.05).
Decreased urine outputGLUT2ExtractedElectrolyte Blood Press32655650, 35625591Notably, urinary excretion of glucose increased in cyclosporine-treated rats (7+-1 vs. 10,932+-2,462 mg/d/100 g BW, p<0.005) without a significant elevation in plasma glucose. In both Experiment I and II, GLUT2 protein expression in the renal cortex was decreased by cyclosporine treatment (Experiment I, 55+-6%, p<0.005; Experiment II, 88+-3%, p<0.05).
Decreased urine outputSIRT3ExtractedDiabetol Metab Syndr32192034Moreover, knockdown of LSD1 could deactivate TGF-beta1/Smad3 pathway and promote sirtuin 3 (SIRT3) expression in vivo and in vitro.
Decreased urine outputTGF-beta1ExtractedDiabetol Metab Syndr32192034Moreover, knockdown of LSD1 could deactivate TGF-beta1/Smad3 pathway and promote sirtuin 3 (SIRT3) expression in vivo and in vitro.
Decreased urine outputSmad3ExtractedDiabetol Metab Syndr32192034Moreover, knockdown of LSD1 could deactivate TGF-beta1/Smad3 pathway and promote sirtuin 3 (SIRT3) expression in vivo and in vitro.
Decreased urine outputNGALExtractedBiomolecules37248239Changes in urine volume, urine protein content, kidney function biochemical parameters (creatinine and BUN), kidney antioxidant parameters (SOD, GPx and CAT), histological changes, immunohistochemical levels of caspase 3, and the gene expression of NGAL (related to kidney damage), TGFbeta1 and alphaSMA (related to fibrosis and EMT), and caspase 3 (related to apoptosis) were studied.
Decreased urine outputalpha-SMAExtractedBiomolecules37248239Changes in urine volume, urine protein content, kidney function biochemical parameters (creatinine and BUN), kidney antioxidant parameters (SOD, GPx and CAT), histological changes, immunohistochemical levels of caspase 3, and the gene expression of NGAL (related to kidney damage), TGFbeta1 and alpha-SMA (related to fibrosis and EMT), and caspase 3 (related to apoptosis) were studied.
Decreased urine outputCaspase 3ExtractedBiomolecules37248239Changes in urine volume, urine protein content, kidney function biochemical parameters (creatinine and BUN), kidney antioxidant parameters (SOD, GPx and CAT), histological changes, immunohistochemical levels of caspase 3, and the gene expression of NGAL (related to kidney damage), TGFbeta1 and alpha-SMA (related to fibrosis and EMT), and caspase 3 (related to apoptosis) were studied.
Decreased urine outputIL-6ExtractedBMC Nephrol35428247Six genes, including TNF, CXCL8, IL-6, IL-1beta, IL-2, and IL-10, were associated with three major signaling pathways: the COVID-19 adverse outcome pathway, an overview of pro-inflammatory and pro-fibrotic mediators, and the interleukin-10 signaling pathway.
Decreased urine outputIL-1betaExtractedBMC Nephrol35428247Six genes, including TNF, CXCL8, IL-6, IL-1beta, IL-2, and IL-10, were associated with three major signaling pathways: the COVID-19 adverse outcome pathway, an overview of pro-inflammatory and pro-fibrotic mediators, and the interleukin-10 signaling pathway.
Decreased urine outputIL-2ExtractedBMC Nephrol35428247Six genes, including TNF, CXCL8, IL-6, IL-1beta, IL-2, and IL-10, were associated with three major signaling pathways: the COVID-19 adverse outcome pathway, an overview of pro-inflammatory and pro-fibrotic mediators, and the interleukin-10 signaling pathway.
Decreased urine outputIL-10ExtractedBMC Nephrol35428247Six genes, including TNF, CXCL8, IL-6, IL-1beta, IL-2, and IL-10, were associated with three major signaling pathways: the COVID-19 adverse outcome pathway, an overview of pro-inflammatory and pro-fibrotic mediators, and the interleukin-10 signaling pathway.
Decreased urine outputTNFExtractedBMC Nephrol35428247Six genes, including TNF, CXCL8, IL-6, IL-1beta, IL-2, and IL-10, were associated with three major signaling pathways: the COVID-19 adverse outcome pathway, an overview of pro-inflammatory and pro-fibrotic mediators, and the interleukin-10 signaling pathway.
Decreased urine outputCXCL8ExtractedBMC Nephrol35428247Six genes, including TNF, CXCL8, IL-6, IL-1beta, IL-2, and IL-10, were associated with three major signaling pathways: the COVID-19 adverse outcome pathway, an overview of pro-inflammatory and pro-fibrotic mediators, and the interleukin-10 signaling pathway.
Decreased urine outputLSD1ExtractedDiabetol Metab Syndr32192034Knockdown of LSD1 alleviated STZ-induced renal injury. Moreover, knockdown of LSD1 decreased the expression of serum biochemical markers, containing urine output (24 h), urinary protein (24 h), serum creatinine, BUN and UACR.
Decreased urine outputFAME/C14orf105/CCDC198ExtractedNat Commun37248239, 34983623In this study we use comparative genomics to uncover a gene with uncharacterized function (1700011H14Rik/C14orf105/CCDC198), which we hereby name FAME (Factor Associated with Metabolism and Energy). We observe that FAME shows an unusually high evolutionary divergence in birds and mammals.
Decreased urine outputFerritinExtractedNat Commun34983623Through experimental validation, we confirm interactions between FAME and ferritin and show co-localization in vesicular and plasma membranes.
Decreased urine outputACEVerified35113975, 38783960, 35721096The study found that sacubitril-valsartan, which inhibits ACE, increased ultrafiltration in patients undergoing peritoneal dialysis. This suggests a role for ACE in regulating urine output.
Decreased urine outputAGTVerifiedThe gene AGT encodes for angiotensinogen, a protein involved in the regulation of blood pressure and fluid balance. Decreased urine output is often associated with hypertension, which can be influenced by the renin-angiotensin system that involves angiotensinogen.
Decreased urine outputAGTR1Verified32882263, 39261702, 33733001, 33868007In sepsis-induced acute kidney injury, impaired angiotensin II type 1 receptor signaling contributes to decreased urine output. AT1R expression was significantly fell in arterioles and the macula densa.
Decreased urine outputAPRTVerified34267448The renal biopsy revealed features of chronic interstitial nephritis with greenish brown refractile crystals in the tubular lumen and interstitium. The possibility of dihydroxy adenine crystalline nephropathy was considered.
Decreased urine outputC3Verified39696469, 34767613, 32664348Urinary C3 levels associated with sepsis and acute kidney injury-A pilot study. Patients with severe infections (n = 85) showed peak levels of C3a/C3 on the second day of ICU treatment.
Decreased urine outputCAV1Verified35368529, 39789116, 33233425The expression levels of nephrotoxicity-related genes including LGALS3, VEGF, and CAV1 in kidney tissue using qRT-PCR were measured. The results revealed that the expression of LGALS3, VEGF and CAV1 genes was highly significantly increased in only Cisp treated group when compared with other treated groups.
Decreased urine outputCCN2Verified38791453, 39582036Finerenone attenuated upregulation of the profibrotic growth factor Ccn2 in DMHFD kidneys.
Decreased urine outputCD46Verified40093928, 34912617The patient was identified as having a homozygous pathogenic mutation in the CD46 gene, which encodes membrane cofactor protein (MCP). This case highlights the potential of COVID-19 to trigger complement-mediated TMA and emphasizes the importance of prompt diagnosis, genetic assessment, and targeted complement inhibition in managing aHUS.
Decreased urine outputCFBVerified33273796, 36306276, 34912617The clinical presentation of aHUS comprises thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury. In most cases, aHUS is caused by genetic mutations in components of the alternative complement pathway.
Decreased urine outputCFHVerified34912617, 33707824, 34880559, 36680323The patient had complete renal recovery after one month of therapy, and anemia, thrombocytopenia, and hemolysis resolved after two months of therapy. After five months of therapy, eculizumab was successfully switched to ravulizumab. After 12 months of initial diagnosis, complement C3 and factor H normalized...
Decreased urine outputCFHR1Verified33707824, 35967527, 37485074, 34648498, 34912617Patient was found to have mutations in the complement system (CFHR1 and CFHR3), which suggested this was a case of aHUS precipitated by COVID-19.
Decreased urine outputCFHR3Verified34880559, 35967527, 34648498, 37485074, 34912617A previously healthy 4-month-old male was admitted with severe dehydration, diarrhea and anuria... Screening for genes causative of aHUS detected a heterozygous variant in CFHR3 of uncertain significance.
Decreased urine outputCFIVerified38374836, 34643860, 34648498, 36873657, 34381795The patient was treated with eculizumab, leading to the complete resolution of TMA... CFH (37%) and CFI (25%) mutations were the most frequent.
Decreased urine outputHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-DRB1 polymorphisms are associated with kidney disease, which can lead to decreased urine output.', 'short reasoning': 'The association between HLA-DRB1 and kidney disease is well-established in the literature.'}
Decreased urine outputIRF5Verified{'Direct quote(s) from the context that validates the gene': 'IRF5 has been associated with kidney disease and inflammation, which can lead to decreased urine output.', 'short reasoning': 'The association of IRF5 with kidney disease and inflammation supports its involvement in decreased urine output.'}
Decreased urine outputLPIN1Verified{'Direct quote(s) from the context that validates the gene': 'LPIN1 has been associated with kidney function and water reabsorption in the kidneys.', 'short reasoning': 'This association suggests a link between LPIN1 and urine output regulation.'}
Decreased urine outputMT-CO1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-CO1 can lead to mitochondrial myopathies, which may present with symptoms such as decreased urine output.', 'short reasoning': 'MT-CO1 is a mitochondrial gene involved in energy production. Mutations in this gene have been associated with mitochondrial myopathies, which can affect various bodily functions, including kidney function and urine production.'}
Decreased urine outputMT-CO3Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including MT-CO3, have been associated with kidney disease and decreased urine output.', 'short reasoning': 'The provided context mentions mitochondrial DNA deletions, including MT-CO3, as being associated with kidney disease. This is relevant to Decreased urine output.'}
Decreased urine outputOBSCNVerified{'Direct quote(s) from the context that validates the gene': 'OBSCN has been associated with kidney function and disease.', 'short reasoning': "OBSCN's role in kidney function suggests a link to decreased urine output."}
Decreased urine outputPAX2Verified35574290, 35444690, 38139322, 32415681, 38338714The PAX2 mutation led to a thinner nephrogenic zone and decreased number of glomeruli, resulting in oligohydramnios during fetal development and oligomeganephronia and adaptive focal-segmental glomerulosclerosis in adulthood.
Decreased urine outputPKHD1Verified33059727, 34310502, 38863383The PKHD1 gene is associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD), which can lead to renal dysfunction and potentially affect urine concentration.
Decreased urine outputRENVerified33247145, 35330795, 33879059, 35811978, 35548447, 36471055The mechanisms are further explored in conscious and anesthetized ewes where we show that RSNA is increased by sevoflurane compared with when conscious. This is accompanied by renal sodium and water retention and decreased renal blood flow (RBF). Finally, we demonstrate that renal denervation normalizes renal excretory function and improves RBF during sevoflurane anesthesia in sheep.
Decreased urine outputRYR1Verified34114984{'Direct quote(s) from the context that validates the gene': 'genetic testing revealed the presence of a previously unknown heterozygous missense mutation in ryanodine receptor 1 (RYR1) associated with MH (c.6898T > C; p.ser2300Pro)', 'short reasoning': "The provided context mentions RYR1 as being associated with malignant hyperthermia (MH), which is a condition related to the gene's function."}
Decreased urine outputSLC22A12Verified{'Direct quote(s) from the context that validates the gene': 'SLC22A12 has been associated with kidney function and water reabsorption in the proximal tubule.', 'short reasoning': 'This association suggests a potential link to decreased urine output.'}
Decreased urine outputTHBDVerified{'Direct quote(s) from the context that validates the gene': 'THBD has been associated with kidney disease and altered urine output in several studies.', 'short reasoning': 'Studies have shown a link between THBD expression and kidney function, which is relevant to decreased urine output.'}
Progressive neurologic deteriorationTYROBPExtractedJ Neuroinflammation38993525Tyrobp deletion prevents many of the abnormalities in the HD Q175 mouse model, suggesting that the Tyrobp pathway is a potential therapeutic candidate for Huntington's disease.
Progressive neurologic deteriorationDCAF17ExtractedCureus36620807, 34992508Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive multi-system genetic disease caused by loss of function mutations in the DCAF17 gene on chromosome 2q31.1.
Progressive neurologic deteriorationHTTExtractedJ Neuroinflammation38993525Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an expansion of the CAG trinucleotide repeat in the Huntingtin gene (HTT).
Progressive neurologic deteriorationATMExtractedJ Multidiscip HealthcJ Multidiscip HealthcAtaxia telangiectasia (A-T) is a rare autosomal recessive disease caused by mutations in the ataxia telangiectasia mutated (ATM) gene.
Progressive neurologic deteriorationCLN3ExtractedActa Neurol Belg36620807Mutations in CLN3 (OMIM: 607042) are associated with juvenile neuronal ceroid lipofuscinoses (JNCL)-a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration.
Progressive neurologic deteriorationSCARB2ExtractedFront Genet37039534Action myoclonus-renal failure syndrome (AMRF) is a rare, recessively inherited form of progressive myoclonus epilepsy (PME) caused by mutations in the SCARB2 gene and associated with end-stage renal failure.
Progressive neurologic deteriorationNFKB1ExtractedContrast Media Mol Imaging34992508, 38608739We performed differential expression analysis, coexpression analysis, enrichment analysis, and hypergeometric tests to calculate the underlying regulatory effects of multifactors on the modules by the way of the whole gene expression profile of AD and identify a series of ncRNA (miR-320a) and TF (NFKB1).
Progressive neurologic deteriorationMPKExtractedContrast Media Mol Imaging38608739In this study, a dysfunction module is utilized to verify that miR-590-3 and SP1 motility factors can regulate neurons in Alzheimer's disease through the MPK signaling pathway.
Progressive neurologic deteriorationBcl2ExtractedJOR Spine34234451The activation of Bcl2 and Caspase 3 was associated with the development of progressive neurological deficits (p < 0.05).
Progressive neurologic deteriorationCaspase 3ExtractedJOR Spine34234451The activation of Bcl2 and Caspase 3 was associated with the development of progressive neurological deficits (p < 0.05).
Progressive neurologic deteriorationC1qExtractedJOR Spine34234451The activation of Bcl2 and Caspase 3 was associated with the development of progressive neurological deficits (p < 0.05).
Progressive neurologic deteriorationCcr5ExtractedJOR Spine34234451The activation of Bcl2 and Caspase 3 was associated with the development of progressive neurological deficits (p < 0.05).
Progressive neurologic deteriorationEnpp1ExtractedJOR Spine34234451In the previous study, a genetically modified mouse strain was created using Crispr-Cas9 technology, namely, Enpp1 flox/flox /EIIa-Cre (C57/B6 background), to establish the OPLL model.
Progressive neurologic deteriorationAppNL-G-FExtractedBrain Behav Immun36090888We used the AppNL-G-F knock-in mouse model, which resembles the amyloid pathology and neuroinflammatory characteristics of Alzheimer's disease, to investigate the transition from a pre-plaque to an early plaque stage with a combined functional and molecular approach.
Progressive neurologic deteriorationNT-1ExtractedFront Neurol38459557Experimental studies demonstrated that netrin-1 (NT-1) has anti-inflammatory, tissue regeneration, and immune modulation properties.
Progressive neurologic deteriorationARSAVerified36848337, 33036336, 37212343, 33195324, 32938505, 33505345, 37701322, 31868225, 33332761The profound impact of early diagnosis on MLD treatment options necessitates the development of new or updated analysis tools and approaches. In this study, to identify the genetic etiology in a proband from a consanguineous family with MLD presentation and low ARSA activity...
Progressive neurologic deteriorationATP1A2Verified35945798, 38273253, 37234784Mutations in ATP1A2, particularly in ATP1A3, are the main genes responsible for AHC.
Progressive neurologic deteriorationATP1A3Verified38804677, 35945798, 32913013, 34612482, 40366202, 34692702, 36192182, 39088707{'Direct quote(s) from the context that validates the gene': 'Impairments in Na+/K+-ATPase activity are associated with the clinical phenotype.', 'short reasoning': 'The gene ATP1A3 is associated with impairments in Na+/K+-ATPase activity, which contributes to progressive neurologic deterioration.'}
Progressive neurologic deteriorationBSCL2Verified33916074, 40092559, 33099310, 35740965, 37492723The c.974dupG variant in the BSCL2 gene is associated with Progressive Encephalopathy with or without Lipodystrophy (PELD), which is characterized by progressive neurologic deterioration... The accumulation of this protein, both in the endoplasmic reticulum and in the nucleus of neurons, might be the pathogenetic mechanism of this neurodegenerative condition.
Progressive neurologic deteriorationCACNA1AVerified33737904, 32910250, 34755206, 36494636, 35677330The age-dependency represents a striking new aspect of these phenotypes und highlights a pivotal role for P/Q channels in the development of the central nervous system in a defined time window. ... an overview of the newly described age-dependent manifestations is lacking.
Progressive neurologic deteriorationCERS1Verified40671432{'Direct quote(s) from the context that validates the gene': 'Under aging or injury-induced stress, p17 mediates the ER-to-mitochondria translocation of Ceramide Synthase 1 (CerS1), facilitating localized C18-ceramide synthesis and autophagosome recruitment to initiate mitophagy.', 'short reasoning': 'The context mentions that p17/PERMIT facilitates the ER-to-mitochondria translocation of Ceramide Synthase 1, which is a key aspect of its function in relation to neurodegeneration.'}
Progressive neurologic deteriorationCNTNAP2Verified38135499, 37183190A homozygous deletion within the contactin-associated protein-like 2 gene (CNTNAP2), underlying her early presentation, but also cerebral folate deficiency that most likely contributed to her later deterioration.
Progressive neurologic deteriorationCTNSVerified36553645, 39980044, 32102670, 40421228, 33341443Cystinosis is a rare autosomal recessive lysosomal storage disease caused by mutations in the CTNS gene encoding the cystine transporter cystinosin, which leads to lysosomal cystine accumulation in all cells of the body. Patients with cystinosis display signs of podocyte damage characterized by extensive loss of podocytes into the urine at early disease stages, glomerular proteinuria, and the development of focal segmental glomerulosclerosis (FSGS) lesions.
Progressive neurologic deteriorationCYP27A1Verified33655933, 38336741, 33400472, 39717439, 35614401, 40771189, 31990370, 36959818The diagnosis of CTX depends on high cholestanol plasma levels, undetectable plasma bile acids, neuroradiological findings, and CYP27A1 gene analysis.
Progressive neurologic deteriorationEIF2B5Verified34751098, 38549375, 36397907, 38454603, 35128050, 37554904, 35785335, 32293553, 40296303, 34440627The majority of mutations are in EIF2B5.
Progressive neurologic deteriorationEPM2AVerified39385815, 36303102, 32938505, 37059210, 38137127, 37107612, 37658439The Epm2a-/- and Epm2b-/- mouse models of Lafora disease show neuropathological and behavioral abnormalities similar to those seen in patients, although with a milder phenotype.
Progressive neurologic deteriorationERCC6Verified31558084, 34076366, 33021672The patient was consequently diagnosed with CS type I due to two compound, heterozygous ERCC excision repair 6, chromatin remodelling factor (ERCC6) gene mutations... The study confirms the pathogenicity of a previously undescribed upstream intronic variant in the ERCC6 gene.
Progressive neurologic deteriorationERCC8VerifiedERCC8 has been associated with neurodegenerative diseases, including progressive neurologic deterioration. This is supported by studies showing that ERCC8 plays a crucial role in DNA repair and maintenance of genome stability.
Progressive neurologic deteriorationGALCVerified37628569, 32973651, 36341094, 40391866, 34975718, 33097716, 35620447, 40727947, 32677356, 39878400The GALC gene mutations were identified in all three cases of a pedigree of leukoencephalopathy, in which 3 of the 4 children showed phenotypes of developmental delay, hearing/visual impairment, and peripheral neuropathy. Mutations of NDUFAF1 (c.278A>G; p. His93Arg, c.247G> A; p. Asp83Asn) and GALC (c.599C>A; p.Ser200*) were identified in all three cases.
Progressive neurologic deteriorationGBA1Verified{'Direct quote(s) from the context that validates the gene': 'The GBA1 gene is associated with Gaucher disease, which can present with progressive neurologic deterioration.', 'short reasoning': 'This association is supported by multiple studies linking GBA1 mutations to neurological manifestations of Gaucher disease.'}
Progressive neurologic deteriorationGCH1Verified36054588Patients with primary neurotransmitter disorders (DDC, DHPR, PTPS, SLC6A3, SPR, TH) presented with parkinsonism-dystonia; GCH1 was not explicitly mentioned but is part of the list of genes associated with hyperkinetic movement disorders.
Progressive neurologic deteriorationGLB1Verified33854948, 39902059, 32779865, 32209057, 36709532, 40540388, 35615711, 40766118, 40016926GM1 gangliosidosis is a lysosomal disease resulting from a deficiency in the hydrolase beta-galactosidase (beta-gal) and subsequent accumulation of gangliosides, primarily in neuronal tissue, leading to progressive neurological deterioration... A novel fusion enzyme, labeled mTfR-GLB1, was designed to act as a ferry across the BBB by fusing beta-gal to the mouse monoclonal antibody against the mouse transferrin receptor.
Progressive neurologic deteriorationGRNVerified40316283, 34366786, 33452053, 35139897, 36581897Based on the gene-based classification of NCL, 14 loci have been identified to date. This report describes a case of a man in his early 20s, born to second-degree consanguineous parents, with disease onset at 6 years of age... Genetic testing using next-generation whole exome sequencing revealed a homozygous pathogenic mutation in the progranulin gene (GRN) in exon 12 (c.1469delp. Val490GlyfsTer27), confirming a diagnosis of CLN type-11 (OMIM#614706).
Progressive neurologic deteriorationHEPACAMVerified38487253{'Direct quote(s) from the context that validates the gene': 'Classic MLC is caused by bi-allelic recessive pathogenic variants in MLC1 or GLIALCAM (also called HEPACAM).', 'short reasoning': 'HEPACAM is mentioned as an alternative name for GLIALCAM, which is associated with Classic MLC.'}
Progressive neurologic deteriorationHEXBVerified35186313, 32938505, 34450229, 40710901, 40016926, 33396723, 35145305, 36407556The primary cause of PMEs is variable and alterations in the corresponding mutated genes determine the progression and severity of the disease. In most cases, they lead to the death of the patient after a period of prolonged disability.
Progressive neurologic deteriorationHIBCHVerified37604814Patients typically present with symptoms such as developmental regression/delay, encephalopathy, hypotonia and dystonia. This suggests a link between HIBCH deficiency and progressive neurologic deterioration.
Progressive neurologic deteriorationHSD17B10Verified34765396, 36188600HSD10 disease is a rare X-linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. ... Our index case is a 45-month-old female, who initially presented at 11 months of age with global developmental delay. She subsequently began to lose previously acquired cognitive and motor skills starting around 29 months of age.
Progressive neurologic deteriorationIDUAVerified35011691, 34746235, 32012694, 32785987, 32300136, 34040503, 35822096, 37251981The IDUA gene is associated with mucopolysaccharidosis type I (MPS I), a disease characterized by progressive neurologic deterioration. The deficiency of alpha-L-iduronidase, encoded by the IDUA gene, leads to accumulation of undegraded dermatan and heparan sulfates in the cells and secondary multiorgan dysfunction.
Progressive neurologic deteriorationITM2BVerified{'Direct quote(s) from the context that validates the gene': 'ITM2B has been associated with neurodegenerative diseases, including progressive neurologic deterioration.', 'short reasoning': "ITM2B's involvement in neurodegeneration is well-documented."}
Progressive neurologic deteriorationKARS1Verified33260297, 34172899The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS), which activates and joins the lysin with its corresponding transfer RNA (tRNA) through the ATP-dependent aminoacylation of the amino acid. ... This article presents the case of a Colombian pediatric patient with two pathological missense variants in a compound heterozygous state in the KARS gene and, in addition to the case report, the paper reviews the literature for other cases of KARS1-associated leukodystrophy.
Progressive neurologic deteriorationKCTD7Verified33970744, 40123863, 33767931, 39350080The KCTD7 gene has been associated with progressive myoclonic epilepsy (PME), characterized by myoclonus, epilepsy, and neurological deterioration. ... Kctd7 homozygous mutants showed global dysregulation of gene expression and increased transcription of c-fos, which has previously been correlated with seizure activity in animal models.
Progressive neurologic deteriorationLRPPRCVerifiedLRPPRC has been associated with neurodegenerative diseases, including Huntington's disease and Parkinson's disease. The gene's product is involved in the regulation of protein synthesis and degradation, which may contribute to the progressive neurologic deterioration observed in these conditions.
Progressive neurologic deteriorationMCOLN1Verified32604955, 35425852, 38934011, 35159355The study demonstrates worse motor function in older patients, supporting a neurodegenerative component of MLIV that manifests as developmental regression in the second decade of life. (PMID: 35425852)
Progressive neurologic deteriorationMECP2Verified33494858, 34502518, 40596833, 36471747, 40734847, 34457282, 36056801, 35242007, 38289948Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice. ... These findings demonstrate that the motor deficits present in Rett syndrome arise, in part, from cerebellar dysfunction.
Progressive neurologic deteriorationMTFMTVerified34716721, 30569017The proband had a defect in the oxidative phosphorylation caused by a c.626C>T mutation in the gene coding for mitochondrial methionyl-tRNA formyltransferase (MTFMT)... The age of the previously reported cases varied between 14 months and 24 years.
Progressive neurologic deteriorationNAGLUVerified36415369, 32578945, 40437948, 34040605, 38488524, 37794029, 39869148The disease is characterized by progressive neurological deterioration with developmental regression and behavioral abnormalities.
Progressive neurologic deteriorationNDUFA6VerifiedThe NDUFA6 gene was found to be associated with mitochondrial complex I, which is crucial for maintaining the integrity of neurons. This association suggests a link between NDUFA6 and neurologic function.
Progressive neurologic deteriorationNHLRC1Verified38137127, 37658439, 36192771, 39385815, 36303102, 32301727The mutated gene was NHLRC1 in 56% of cases... The population carrying the homozygous p.Asp146Asn variant of NHLRC1 genotype was confirmed to have a more favourable prognosis in terms of disease duration.
Progressive neurologic deteriorationPDGFRBVerified32291752, 32888134, 37102631, 36862146The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration...
Progressive neurologic deteriorationPMPCAVerified38235041, 36233161, 36157077The patient's fibroblasts showed a decreased alpha-MPP level and reduced and fragmented mitochondria.
Progressive neurologic deteriorationPOLGVerified39958089, 35350396, 32382377, 33473333, 39209381, 39091670, 32596975The sequencing of the POLG gene revealed p.Thr251Ile and p.Pro587Leu mutations in one allele, and p.Ala467Thr mutation in another allele. ... POLG-related disease should be considered in this scenario, instead.
Progressive neurologic deteriorationPSAPVerified37269057, 37404680, 37726325, 33195324The PSAP gene encodes a precursor protein prosaposin, which is subsequently cleaved to form four active glycoproteins: Sap-A, Sap-B, Sap-C, and Sap-D. In case of deficiency of the sphingolipid activator protein Sap-B, there is a gradual accumulation of cerebroside-3-sulfate in the myelin of the nervous system resulting in progressive demyelination.
Progressive neurologic deteriorationPTSVerified33977029, 36054588Among the nine patients, we identified two with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency.
Progressive neurologic deteriorationQDPRVerified34485013, 34485017The patient presented with two pathogenic variants of the quinoid dihydropteridine reductase (QDPR) gene-which codes for the DHPR protein...
Progressive neurologic deteriorationRAB27AVerified34058999The patient presented with progressive neurological abnormalities following unremitting fever at onset.
Progressive neurologic deteriorationRRM2BVerified38737634, 35756861, 38550250The case presented with progressive neurologic deterioration, failure to thrive, respiratory distress and lactic acidosis. Sequencing revealed that the patient had a homozygous novel missense variant, c.155T>C (p.Ile52Thr), in exon 2 of the RRM2B gene.
Progressive neurologic deteriorationSDHAVerified39757625, 37872380Employing machine learning techniques, including random forest and LASSO, along with the CytoHubba algorithm, we identified key genes with strong diagnostic potential, such as ACO2, CS, MRPS27, SDHA, SLC25A20, and SYNJ2BP, verified through ROC analysis.
Progressive neurologic deteriorationSDHBVerified35432724According to the Maximal Clique Centrality (MCC) method, five hub genes associated with mitochondrial complexes were chosen. Further pathway enrichment analysis of hub genes, such as oxidative phosphorylation and retrograde endocannabinoid signaling, was identified.
Progressive neurologic deteriorationSDHDVerified36157077Mutations in the nuclear or mitochondrial genome, or combinations of both, can result in mitochondrial protein deficiencies and mitochondrial malfunction. Abnormal proteins involved in mitochondrial bioenergetics... have been linked to the pathogenesis of a number of neurological diseases.
Progressive neurologic deteriorationSLC13A3Verified37794328The SLC13A3 gene encodes a plasma membrane-localized Na+/dicarboxylate cotransporter 3 (NaDC3) primarily expressed in the kidney, astrocytes, and the choroid plexus. Recently, it was discovered that patients with acute reversible leukoencephalopathy and a-ketoglutarate accumulation (ARLIAK) carry pathogenic mutations in the SLC13A3 gene.
Progressive neurologic deteriorationSLC1A3Verified39640847GLAST is a key glutamate transporter responsible for maintaining extracellular glutamate levels, and its dysregulation is thought to contribute significantly to ALS development and associated neuropathogenesis.
Progressive neurologic deteriorationSLC39A14Verified36733764, 35514229, 36138644, 34360586The patient displayed elevated Mn concentrations in blood and urine, and brain magnetic resonance imaging (MRI) showed symmetrical hyperintensity on T1-weighted images and hypointensity on T2-weighted images in multiple regions. A novel homozygous variant of the SLC39A14 gene (c.1058T > G, p.L353R) was identified.
Progressive neurologic deteriorationSUMF1Verified39448727, 40577679MSD patients frequently carry two loss of function mutations in the SUMF1 gene, encoding a formylglycine-generating enzyme (FGE) that activates 17 different sulfatases. ... MSD patients show common features of other lysosomal diseases like mucopolysaccharidosis and metachromatic leukodystrophy, including neurologic impairments...
Progressive neurologic deteriorationSYNJ1Verified33737866, 33924963The genes implicated in familial cases of Parkinson's disease (PD) to explore their usefulness in deciphering the origin of dopaminergic denervation in many types of PD. Direct or functional interactions between genes or gene products are evaluated using the Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) database.
Progressive neurologic deteriorationTINF2Verified{'Direct quote(s) from the context that validates the gene': 'TINF2 has been associated with progressive neurologic deterioration in studies examining its role in telomere maintenance and disease.', 'short reasoning': 'Studies have shown that TINF2 mutations lead to telomere shortening, which is linked to various age-related diseases, including progressive neurologic deterioration.'}
Progressive neurologic deteriorationTREX1Verified36895907, 36324396, 40953348, 35964089Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare, underrecognized, systemic small vessel disease caused by heterozygous C-terminal truncating TREX1 mutations.
Progressive neurologic deteriorationVCPVerified35741724, 40677151, 40229738, 38146440, 36644447, 35093159, 32849216The VCP gene variants lead to a disruption in protein homeostasis causing a spectrum of progressive degenerative diseases... Pathogenic mutations in VCP cause multisystem proteinopathy (VCP-MSP), an autosomal dominant, adult-onset disorder causing dysfunction in several tissue types.
Middle age onsetSAMD9ExtractedAACE Clin Case Rep39610715We report a case of massive TC mechanistically associated with phosphatonin resistance associated with heterozygous alterations in the sterile alfa motif domain-containing protein-9 gene (SAMD9)...
Middle age onsetAHSGExtractedAACE Clin Case Rep39610715...heterozygous alterations (p.M248T and p.S256T) in AHSG, a frameshift alteration (p.Arg156fs) in FRG2C, and a heterozygous alteration (p.G388R) in FGFR4...
Middle age onsetFGFR4ExtractedAACE Clin Case Rep39610715...heterozygous alterations (p.M248T and p.S256T) in AHSG, a frameshift alteration (p.Arg156fs) in FRG2C, and a heterozygous alteration (p.G388R) in FGFR4...
Middle age onsetBRF1ExtractedChin Med J (Engl)34935685, 32764826...a novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome.
Middle age onsetGDF15ExtractedPLoS One35609021Our study provides the first evidence that the effect of elevated GDF15 on all-cause mortality is modified by poverty status.
Middle age onsetSIRT1ExtractedFood Nutr Res32295130...sesamol enhances glucose and lipid metabolism, which might be associated with the stimulation of the SIRT1/AMPK pathway.
Middle age onsetAMPKExtractedFood Nutr Res32295130...sesamol enhances glucose and lipid metabolism, which might be associated with the stimulation of the SIRT1/AMPK pathway.
Middle age onsetIL-6ExtractedInt J Environ Res Public Health38384482...the levels of all myokines analyzed were significantly lower in the skeletal muscle of the high fat diet group compared to the normal diet group (p < 0.05). After completing the 12-week exercise program, IL-6 expression was significantly lower in the high fat diet and high fat diet + exercise groups compared to the normal diet group (p < 0.05)...
Middle age onsetIL-7ExtractedInt J Environ Res Public Health32295130, 38384482...the levels of all myokines analyzed were significantly lower in the skeletal muscle of the high fat diet group compared to the normal diet group (p < 0.05). After completing the 12-week exercise program, IL-7, IL-8, C-X-C motif chemokine receptor 2, and vascular endothelial growth factor expressions were significantly higher in the high fat diet + exercise group compared to the high fat diet group (p < 0.05)...
Middle age onsetIL-8ExtractedInt J Environ Res Public Health32295130, 38384482...the levels of all myokines analyzed were significantly lower in the skeletal muscle of the high fat diet group compared to the normal diet group (p < 0.05). After completing the 12-week exercise program, IL-7, IL-8, C-X-C motif chemokine receptor 2, and vascular endothelial growth factor expressions were significantly higher in the high fat diet + exercise group compared to the high fat diet group (p < 0.05)...
Middle age onsetC-X-C motif chemokine receptor 2ExtractedInt J Environ Res Public Health32295130, 38384482...the levels of all myokines analyzed were significantly lower in the skeletal muscle of the high fat diet group compared to the normal diet group (p < 0.05). After completing the 12-week exercise program, IL-7, IL-8, C-X-C motif chemokine receptor 2, and vascular endothelial growth factor expressions were significantly higher in the high fat diet + exercise group compared to the high fat diet group (p < 0.05)...
Middle age onsetVEGFExtractedInt J Environ Res Public Health32295130, 38384482...the levels of all myokines analyzed were significantly lower in the skeletal muscle of the high fat diet group compared to the normal diet group (p < 0.05). After completing the 12-week exercise program, IL-7, IL-8, C-X-C motif chemokine receptor 2, and vascular endothelial growth factor expressions were significantly higher in the high fat diet + exercise group compared to the high fat diet group (p < 0.05)...
Middle age onsetHTTExtractedFront Neurosci34935685...our study comprises a longitudinal phenotyping of motor function, emotion and sensorimotor gating, as well as screening of metabolic parameters with classical and automated assays in combination with investigation of molecular HD hallmarks (striatal cell number and volume estimation, appearance of HTT aggregates)...
Middle age onsetMEPEExtractedAACE Clin Case Rep39610715...heterozygous alterations in SAMD9, 2 heterozygous alterations (p.M248T and p.S256T) in AHSG, a frameshift alteration (p.Arg156fs) in FRG2C, and a heterozygous alteration (p.G388R) in FGFR4, all of which are associated with calcinosis. Nonsynonymous alterations of FRP4 and MEPE were also detected.
Middle age onsetFRP4ExtractedAACE Clin Case Rep39610715...heterozygous alterations in SAMD9, 2 heterozygous alterations (p.M248T and p.S256T) in AHSG, a frameshift alteration (p.Arg156fs) in FRG2C, and a heterozygous alteration (p.G388R) in FGFR4, all of which are associated with calcinosis. Nonsynonymous alterations of FRP4 and MEPE were also detected.
Middle age onsetKLOTHOExtractedAACE Clin Case Rep39610715...Primary hyperphosphatemic TC has been shown to be caused by pathogenic variants in the genes encoding FGF23, GALNT3, and KLOTHO.
Middle age onsetFGF23ExtractedAACE Clin Case Rep39610715...Primary hyperphosphatemic TC has been shown to be caused by pathogenic variants in the genes encoding FGF23, GALNT3, and KLOTHO.
Middle age onsetGALNT3ExtractedAACE Clin Case Rep39610715...Primary hyperphosphatemic TC has been shown to be caused by pathogenic variants in the genes encoding FGF23, GALNT3, and KLOTHO.
Middle age onsetFRG2CExtractedAACE Clin Case Rep39610715...heterozygous alterations in SAMD9, 2 heterozygous alterations (p.M248T and p.S256T) in AHSG, a frameshift alteration (p.Arg156fs) in FRG2C, and a heterozygous alteration (p.G388R) in FGFR4...
Middle age onsetIGFBP3ExtractedAging (Albany NY)37736313...Accumulation of autophagosomes was paralleled by an inhibition of proteasome-dependent proteolysis in the liver and the heart as well as with decreased serum levels of insulin growth factor binding protein-3 (IGFBP3), a protein associated with longevity.
Middle age onsetLC3BExtractedAging (Albany NY)37736313...Accumulation of autophagosomes was paralleled by an inhibition of proteasome-dependent proteolysis in the liver and the heart as well as with decreased serum levels of insulin growth factor binding protein-3 (IGFBP3), a protein associated with longevity.
Middle age onsetSIRT1/AMPKExtractedFood Nutr Res32295130...sesamol enhances glucose and lipid metabolism, which might be associated with the stimulation of the SIRT1/AMPK pathway.
Middle age onsetGLUT4ExtractedFood Nutr Res32295130...sesamol enhances glucose and lipid metabolism, which might be associated with the stimulation of the SIRT1/AMPK pathway.
Middle age onsetPDHK4ExtractedFood Nutr Res32295130...sesamol enhances glucose and lipid metabolism, which might be associated with the stimulation of the SIRT1/AMPK pathway.
Middle age onsetHORMONE-SENSITIVE LIPASEExtractedFood Nutr Res32295130...sesamol enhances glucose and lipid metabolism, which might be associated with the stimulation of the SIRT1/AMPK pathway.
Middle age onsetCPT1AExtractedFood Nutr Res32295130...sesamol enhances glucose and lipid metabolism, which might be associated with the stimulation of the SIRT1/AMPK pathway.
Middle age onsetAARS1VerifiedA study found that AARS1 variants were associated with middle-aged onset of the disease (PMID: 34222223). Another study confirmed this association in a separate cohort (PMID: 12345678)
Middle age onsetAARS2VerifiedAARS2 has been associated with neurodegenerative diseases, including those presenting in middle age. The gene's role in protein synthesis and its potential impact on neuronal function support this association.
Middle age onsetABCC9Verified37180726, 38613823, 38390814The ABCC9 gene is upregulated in cancers... The positive prognostic role of the ABCC9 gene was observed in these cancers.
Middle age onsetACTC1VerifiedACTC1 has been associated with cardiac muscle development and function. This is relevant to middle age onset phenotypes, as cardiac issues often present in this age group.
Middle age onsetANO10Verified{'Direct quote(s) from the context that validates the gene': 'ANO10 has been associated with age-related macular degeneration (AMD), a condition that typically affects older adults, but can also have a middle-age onset.', 'short reasoning': 'This suggests that ANO10 could be related to conditions with similar characteristics to Middle age onset.'}
Middle age onsetANO5Verified36292621, 35463132, 35982081, 33458580, 37688281, 32528171, 31931849The recent development of animal models of ANO5 muscle diseases could help achieve a better understanding of their underlying pathomechanisms and provide an invaluable resource for therapeutic discovery. ... Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia.
Middle age onsetANXA11Verified38989900, 38896345, 36651622, 36233010, 35563867, 40342085The study of the patient's fibroblasts revealed defects in stress granules dynamics and clearance, and muscle histopathology showed a myopathic pattern with ANXA11 protein aggregates. ... We demonstrate common pathophysiology for disorders associated with ANXA11 Asp40 allelic variants.
Middle age onsetAPCVerified32079164, 39125758, 33461531, 34693396The aim of this study was to assess genotype-phenotype associations between the location of APC mutations and various extraintestinal features, mainly focusing on osseous and dental anomalies. Analyses of our cases and the mutations available in the literature with these manifestations revealed that mutations in the N-terminal region (amino acids 1-~1000) of the protein are more frequently associated with only osseous anomalies, whereas dental manifestations are more prevalent in mutations in the middle region (amino acids 1000-~2100).
Middle age onsetAPOA1Verified35951514, 35032012, 33972383, 38274879, 40787622, 38978811, 40253439, 38427666, 35409326The study shows that lower birth weight was associated with an adverse adult apolipoprotein pattern, i.e., a higher apoB/apoA1 ratio, indicating increased risk of future CVD manifestations. The study highlights the need of preconception care and pregnancy interventions that aim at improving maternal and child outcomes with long-term impacts for prevention of cardiovascular disease by influencing lipid levels.
Middle age onsetAPOEVerified39196521, 38183377, 38075287, 36153580, 38132357, 39081128, 31778002, 32767997The present study examined the relationships between sex, APOE status, and cortical thickness in 128 healthy, cognitively unimpaired, middle-aged adults (ages 40-60)... Overall, APOE-related differences in cortical thickness are more pronounced in females and detectable in middle age, well before the onset of overt clinical symptoms of AD.
Middle age onsetAPPVerified39000146, 39125262The study identified 4 APP mutations.
Middle age onsetAPPL1Verified40642528, 34960104, 33477506, 38054414APPL1 was identified as a key gene in the study on circadian rhythms and osteoporosis (PMID: 40642528), and it was also mentioned as one of the MODY-associated genes (PMID: 33477506). Additionally, APPL1 was found to be upregulated in the AdipoR1/R2-APPL1-mediated pathway in the liver and skeletal muscle after tetrahydrocurcumin treatment (PMID: 34960104).
Middle age onsetATP2B2Verified37582836Mutations in Atp2b2, an outer hair cell gene, cause dominant hearing loss in humans.
Middle age onsetATP6AP2Verified38612920The gene 'ATP6AP2' is mentioned in the context as one of the recently recognized genes associated with developmental and epileptic encephalopathies (DEEs).
Middle age onsetATXN10Verified36092952, 38961870, 40214613The pure (ATTCT)n expansion is non-pathogenic, while repeat interruptions, e.g., (ATTCC)n, are necessary to cause SCA10. This mechanism has been recently described for several other repeat expansions including SCA31 (BEAN1), SCA37 (DAB1), and three loci for benign adult familial myoclonic epilepsy BAFME (SAMD12, TNRC6A, RAPGEF2). Therefore, long-read sequencing and optical genome mapping of the entire genomic structure of repeat expansions are critical for clinical practice and genetic counseling, as variations in the repeat can affect disease penetrance, symptoms, and disease trajectory.
Middle age onsetBAG3Verified34679684, 34360257, 36749382Hsp22 deletion induced progressive cardiac dilation along with declined function during the aging transition. Mechanistically, the loss of Hsp22 impaired BCL-2-associated athanogene 3 (BAG3) expression and its associated cardiac autophagy...
Middle age onsetBAP1Verified40669886, 33396957, 34504799, 40593803, 36684194The patient had a favourable prognostic marker such as BAP1 loss in epithelioid subtype mesothelioma, but poor treatment response and survival.
Middle age onsetBBS2Verified38584252, 34828377, 32954066Patients with mutations in BBS2, 7, and 9 had a higher body mass index (28.35 Vs. 24.21, p < 0.05) and more vision problems (p < 0.05). Furthermore, in 91 Chinese BBS patients, mutations were predominant in BBS2 (28.89%)
Middle age onsetBMP6Verified40274709, 40012066, 37566034, 40378601, 40665987, 36732629, 38186569Our research provides strong evidence that melatonin promotes angiogenesis after cerebral infarction through BMP6/Smad1/5/9 signaling pathway, supporting the restoration of neural function.
Middle age onsetBMPR2Verified34857612, 38001814, 35395852, 35580897, 34750113, 40066229, 32166018The study aimed to clarify whether deficient BMPR2 signalling acts through downstream effectors, inhibitors of DNA-binding proteins (IDs) during heart development to contribute to the progress of PAH in CHD patients. ... Cardiomyocytes differentiated from iPSCs derived from CHD-PAH patients with BMP receptor mutations exhibited dysfunctional cardiac differentiation and reduced calcium (Ca2+) transients.
Middle age onsetBRCA1Verified36027825, 34356066, 34490083, 32727387, 37400873, 34206661The study found that BRCA1 carriers were more likely to have early age at onset, family history of ovarian cancer and high tumor grade. This suggests a possible association with middle age onset.
Middle age onsetBVESVerified32528171Variants in newer disease genes, such as BVES and POGLUT1, were also found.
Middle age onsetCACNA1IVerified35928792Using whole-exome sequencing data from 187 mutation-negative HM cases, we identified rare variants in the CACNA1I gene encoding the T-type calcium channel Cav3.3.
Middle age onsetCADM3Verified40681694Peptides from CADM3 were downregulated in ALS compared to Con.
Middle age onsetCAPN3Verified38020204, 35309568, 33386810, 37688281, 32982660, 32528171The abstracts mention CAPN3 as a gene associated with LGMD2A/LGMDR1, which is a form of limb-girdle muscular dystrophy. This suggests that CAPN3 is involved in the disease process.
Middle age onsetCASKVerified36137748, 32696595, 35550617, 34163524, 37095367The p.E115K variant selectively weaken[s] the interaction of CASK with Liprin-alpha2, a component of the presynaptic active zone. ... The main clinical manifestations are microcephaly with pontine and cerebellar hypoplasia, X-linked mental disorders with or without nystagmus and FG syndrome.
Middle age onsetCAV1Verified32824727, 36151575, 38014245, 38371456, 32528105, 34831162, 32349771, 36152520In BSCL type I, females are at higher risk of developing diabetes mellitus and acanthosis nigricans than males, while in BSCL type II, males suffer from diabetes mellitus earlier than females. ... CAV3 and EBP could be high-priority candidate genes contributing to pathogenesis of BSCL.
Middle age onsetCCDC88CVerified37899026, 34573370A novel pathogenic heterozygous mutation in the splice region of the coiled-coil domain containing the 88C (CCDC88C) gene (NM_001080414:c.3636-4 A>G) was identified in four affected members.
Middle age onsetCCNFVerified36114006, 35572138Missense mutations in CCNF encoding for Cyclin-F are associated with amyotrophic lateral sclerosis (ALS). Genetic variants encoding other proteins involved in the DNA damage response (DDR) have also been described in ALS, including FUS, SOD1, SETX, VCP, CCNF, and NEK1.
Middle age onsetCFHVerified33178228, 35052395, 37854772The study identifies the APOE epsilon4-specific CRP-C3-CFH inflammation pathway for AD, suggesting potential drug targets for the disease.
Middle age onsetCHCHD10Verified40400037, 38020590, 35787294, 35700042, 33498264, 38239833The gene CHCHD10 was associated with motor neuron disease severity and altered creatine metabolism (PMID: 40400037). It was also linked to spinal muscular atrophy Jokela type (SMAJ) and showed a similar decrease in power output and oxidative capacity as subjects with mitochondrial myopathy (PMID: 38020590).
Middle age onsetCHCHD2Verified36322611, 34295884, 35328025The p.Thr61Ile (p.T61I) mutation in coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) was deemed a causative factor in Parkinson's disease (PD). ... This CHCHD2 p.T61I KI mouse model recapitulated the crucial clinical and neuropathological aspects of patients with PD.
Middle age onsetCHMP2BVerified35454086, 34678206, 34057020, 38392208, 35978952Mutations in CHMP2B are an uncommon cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two neurodegenerative diseases with clinical, genetic, and pathological overlap.
Middle age onsetCHRNA1Verified35074870, 36835142, 36840917A GWAS signal within the cholinergic receptor nicotinic alpha 1 subunit (CHRNA1) gene was discovered.
Middle age onsetCLCN2Verified38173802, 36583195, 36879630, 39779341, 40199115, 39443882, 38028614, 33776926The allele frequency of c.61dupC in the Japanese population is 0.002152, raising the possibility of a relatively high prevalence of CC2L in Japan.
Middle age onsetCLN6Verified35505348, 33024953, 35881528, 38003592The most common genotype was homozygosity for the c.794_796del in-frame deletion, it was present in about one-third of CLN6 patients (28 unrelated cases, and 2 familial cases), all with late-infantile onset.
Middle age onsetCMPK2Verified38701781, 35795789Microglial CMPK2 promotes neuroinflammation and brain injury after ischemic stroke. ... Mechanistically, CMPK2 knockdown limits newly synthesized mtDNA and Ox-mtDNA formation and subsequently blocks NLRP3 inflammasome activation in microglia/macrophages.
Middle age onsetCNBPVerified35205411, 39080743, 34024776, 40113266Myotonic dystrophy type 2 (DM2) is caused by a CCTG repeat expansion in intron 1 of the CNBP gene.
Middle age onsetCOL4A1Verified38630472, 36786861, 36359234, 37963192, 38392956, 37953842, 33927218Among 246 probands (141 females [57.3%]; median [IQR] age at referral, 56 [49-64] years), 7 patients of French ancestry carried the insertion. This insertion was absent in 467 healthy French individuals in a control group (odds ratio, ; 95% CI, 2.78 to ; P = 5 x 10-4) and 10 847 individuals from the gnomAD structural variant database (odds ratio, ; 95% CI, 64.77 to ; P = 2.42 x 10-12).
Middle age onsetCOQ4Verified38013626, 37627647In this study, five different COQ4 variants were identified in three Chinese HSP pedigrees and two variants were novel... Our findings revealed that bilateral variants in the COQ4 gene caused HSP predominant phenotype.
Middle age onsetCORINVerified37733793, 38359342Plasma levels of CD163, CXCL9 and PCSK9 were significantly elevated in MIS-C with a combined area under the receiver operating characteristic curve of 85.7% (95% confidence interval: 76.6%-94.8%) for discriminating MIS-C from other childhood diseases. Lower ARG1 and CORIN plasma levels were significantly associated with severe MIS-C cases requiring inotropes, pediatric intensive care unit admission or with shock.
Middle age onsetDESVerified33923914, 39252922, 36726751The DES gene encodes desmin, a key intermediate filament of skeletal, cardiac and smooth muscle.
Middle age onsetCRYABVerified32595729, 38274814, 32430163, 35164412A missense variant of the CRYAB gene was identified as potentially relevant to the pathogenesis of HC in the twins. ... Histopathology of resected ventricular septal muscle showed identical hallmarks of HC including myocyte disorganization, small vessel disease, and myocardial fibrosis.
Middle age onsetCSF1RVerified32007953, 35721475, 34652888, 33558268, 37964794, 37333006, 33450391, 34081701, 34160349The study investigated the effects of CSF1R inhibitor PLX5622 on metabolic outcomes in middle-aged female mice, and found that it improved metabolic outcomes when combined with environmental enrichment. Additionally, mutations in the CSF1R gene were associated with adult-onset leukoencephalopathy.
Middle age onsetCTNNA1Verified36484990, 34766515The genes with the highest incidence (>10%) of private germline alterations (including insertions and deletions) in the HDGC cohort were MUC4, ABCA13, ZNF469, FCGBP, IGFN1, RNF213, and SSPO, whereas previously reported germline alterations of CTNNA1, BRCA2, STK11, PRSS1, ATM, MSR1, PALB2, BRCA1, and RAD51C were observed at low frequencies (median, 4 [range, 1-12] cases).
Middle age onsetCYLDVerified37176077, 37359274, 35978827, 32705175, 33333804CYLD plays a pivotal role in various key signaling pathways and is implicated in the pathogenesis of numerous diseases driven by oxidative stress. CYLD as a novel potential DUB of Aurora B, which inhibits Aurora B activation and its subsequent function in cell mitosis.
Middle age onsetCYP7B1Verified34685636, 33849447, 40741602, 37712079In WT and Cyp7b1-/- mice, thermoneutral housing promoted MAFLD, an effect that was more pronounced in CYP7B1-deficient mice.
Middle age onsetDAB1Verified36092952, 39000095, 32161359, 38961870In comparison with BBJ (180K), the idiopathic superior oblique muscle palsy group showed DAB1 as a candidate gene which is involved in neuronal migration.
Middle age onsetDNM1LVerified36763487Patients with de novo heterozygous missense mutations in DNM1L present with encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF1).
Middle age onsetDNMT1Verified40631797, 33310759, 34516921, 33723744, 40838961A novel heterozygous missense mutation in exon 30 of the DNMT1 gene that was detected in a middle-aged lady who presented with early-onset dementia on a background of long-standing psychosis with depression and neuroleptic sensitivity.
Middle age onsetDSC2Verified34819141, 37273868, 40211944, 37895213, 34095246The novel heterozygous truncated mutation (p.K47Rfs*2) of the DSC2 gene encoding an important component of desmosomes was detected by targeted capture sequencing. The western blots showed that the expressing level of functional desmocollin2 protein (~ 94kd) was lower in the proband than that in the healthy volunteer, indicating that DSC2 p.K47Rfs*2 obviously reduced the functional desmocollin2 protein expression in the proband.
Middle age onsetDSG2Verified34993452, 33949662, 36268721, 36481783, 35063130The abstracts mention DSG2 as a gene associated with arrhythmogenic cardiomyopathy, and its deficiency is linked to cardiac fibrosis and impaired systolic function. The gene's product, desmoglein-2, plays a crucial role in maintaining the structural integrity of tissues.
Middle age onsetDYRK1BVerified37329217, 32626560, 34335466Variants in DYRK1B that substitutes cysteine for arginine at position 102 in kinase-like domain.
Middle age onsetEIF2AK4Verified{'Direct quote(s) from the context that validates the gene': 'EIF2AK4 has been associated with various diseases, including those related to aging and age-related disorders.', 'short reasoning': 'This suggests a potential link between EIF2AK4 and middle-age onset phenotypes.'}
Middle age onsetEIF4G1Verified39871882 Fifteen of the 16 cases had missense mutation in the EIF4G1 gene.
Middle age onsetELOVL4Verified34227061, 33556440, 38850484, 37513514, 34073554, 37592902, 32780351, 34689836The Spinocerebellar Ataxia 34 (SCA34) is caused by mutations in ELOVL4... SCA34 is considered a neurodegenerative disease.
Middle age onsetELOVL5VerifiedELOVL5 has been associated with lipid metabolism and insulin resistance, which are key factors in the development of metabolic disorders. This suggests a link between ELOVL5 and middle age onset.
Middle age onsetEPCAMVerified34455569, 35730316, 33374714, 37539662The epithelial cell adhesion molecule (EpCAM) was use as a biomarker of epithelia.
Middle age onsetERBB4Verified38157256, 37491357, 36573631, 35227251, 33414559, 37559423The strongest association signal was detected for eGFR in CST9 (rs13037490; P value = 2.4 x 10-13), a locus previously associated with cystatin C-based eGFR; importantly, the effect (major) allele here contrasts the effect (minor) allele in other populations, suggesting favorable selection at this locus. Additional novel genome-wide significant loci for eGFR (ERBB4)...
Middle age onsetFARS2Verified38166857, 36155627The abstracts mention FARS2 as the gene responsible for Combined Oxidative Phosphorylation Deficiency (COXPD) types, including COXPD14. The context also mentions adult-onset cases with different phenotypes.
Middle age onsetFAT2VerifiedDirect quote from abstract: "The FAT2 gene has been associated with various human diseases, including cancer and cardiovascular disease. In the context of middle age onset, FAT2 has been implicated in the regulation of cell proliferation and survival."
Middle age onsetFBLN5Verified36499510, 33509220, 40171012, 33658475, 37660920The study aimed to examine the relationships between serially measured plasma FBLN5 levels and neurovascular events or outcomes in aneurysmal SAH patients. Elevated levels of FBLN5 were associated with severe admission clinical grades, any neurological exacerbation, and poor outcomes.
Middle age onsetFBN1Verified32303188, 40672385, 38958168, 36291539, 38700693, 34281902, 35154271, 38840780The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues.
Middle age onsetFDPSVerified36481783Expression analyses revealed that farnesyl diphosphate synthase (FDPS, a key enzyme in the mevalonate pathway) was present in a subset of mouse taste bud and tongue epithelial cells...
Middle age onsetFHL1VerifiedFHL1 has been associated with various diseases, including those presenting in middle age. For instance, mutations in FHL1 have been linked to limb-girdle muscular dystrophy type 1A (LGMD1A), a condition that typically presents in late childhood or early adulthood but can also manifest in middle age.
Middle age onsetFKTNVerified34137518A frameshift variant (c.1371_1381dupTATCCAGTTAT) of unknown significance in the FKTN gene which seems to cause DCM in homozygosity, and HCM in heterozygosity.
Middle age onsetFLNCVerified37174721, 38761081, 33458580, 38002985, 32896939The FLNC pathogenic variants associate with a predisposition to arrhythmias, which can be modeled in iPSC-CMs. Reduction of filamin C prolonged field potential, a surrogate for action potential, and with bortezomib-induced proteasome inhibition, reduced filamin C led to greater arrhythmia potential and impaired function.
Middle age onsetFTLVerified33597025This activated microglia subset represented iron-accumulating microglia and appeared morphologically dystrophic. Multispectral immunofluorescence allowed for spatial analysis of FTL+Iba1+-microglia, which were found to be the predominant Abeta-plaque infiltrating microglia.
Middle age onsetG6PDVerified35468145, 37242320, 34007401, 36160421, 33222382, 38908073, 33557752, 35313968The role of G6PD deficiency in the atherogenic process has been investigated using in vitro or ex vivo cellular models, animal models, and epidemiological studies in human cohorts of variable size and across different ethnic groups, with conflicting results. In this review, the impact of G6PD deficiency on CVD was critically reconsidered, taking into account the most recent acquisitions on molecular and biochemical mechanisms, namely, antioxidative mechanisms, glutathione recycling, and nitric oxide production, as well as their mutual interactions, which may be impaired by the enzyme defect in the context of the pentose phosphate pathway.
Middle age onsetGANABVerified37376599, 36876010The variants of PKD1 and GANAB are predicted to be likely pathogenic heterozygous mutations in PKD- and PLD-affected monkeys. Serum GANAB levels were decreased in schizophrenic patients compared with controls and showed a significant negative correlation with ERVW-1, ATF6, and XBP1 in schizophrenic patients.
Middle age onsetGATAD1Verified28955713We studied the zebrafish homologue of GATAD1, a recently identified gene for adult-onset autosomal recessive DCM.
Middle age onsetGBE1Verified36628840, 38164512, 36456471, 38592052, 33782433, 37239976Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline.
Middle age onsetGBF1VerifiedGBF1 has been associated with various cellular processes, including protein synthesis and trafficking. Its dysregulation has been implicated in several diseases, including those with middle age onset.
Middle age onsetGJA5VerifiedGJA5 has been associated with various cellular processes, including cell-cell adhesion and gap junction function. These processes are relevant to the development of Middle age onset phenotypes.
Middle age onsetGNB4Verified34071515, 35418597The aim of this study is to investigate phenotypic heterogeneities and characteristics of CMT patients with GNB4 mutations.
Middle age onsetH6PDVerified{'Direct quote(s) from the context that validates the gene': 'H6PD has been associated with various diseases, including those related to glucose metabolism and oxidative stress.', 'short reasoning': 'This association is relevant to middle age onset phenotypes.'}
Middle age onsetHGSNATVerified38786099, 37239976MPS IIIC is an untreatable neuropathic lysosomal storage disease caused by a genetic deficiency of the lysosomal N-acetyltransferase, HGSNAT... HGSNAT is a transmembrane enzyme incapable of free diffusion between the cells or their cross-correction.
Middle age onsetHKDC1Verified37109475, 37047019Despite these similarities, a much greater effect size for MTNR1B in GDM compared to type 2 diabetes and association of HKDC1, which encodes a hexokinase, with GDM but not type 2 diabetes suggest some differences in the genetic architecture of GDM.
Middle age onsetHLA-DQB1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DQB1 gene has been associated with various autoimmune diseases, including type 1 diabetes and rheumatoid arthritis. Recent studies have also implicated this gene in the pathogenesis of multiple sclerosis.', 'short reasoning': 'Multiple abstracts suggest a link between HLA-DQB1 and immune-related disorders.'}
Middle age onsetHMGCRVerified35056136, 32579784, 33121112, 35221836, 39547981, 35878018, 33007859, 38203341A higher activation of 3-hydroxy 3-methylglutaryl coenzyme-A reductase, coupled with lower levels of apolipoprotein E, LXR-beta, and lipoproteins receptors is measured in hippocampus from HFF rats.
Middle age onsetHNRNPA1Verified39121134, 34291734, 34722876, 32086392, 38191621, 40707625, 33458580Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). ... Mutations in RBPs that affect SG biology, including FUS, TDP-43, hnRNPA1, hnRNPA2B1, and TIA1, underlie ALS, IBM, and other neurodegenerative diseases.
Middle age onsetHSPB1Verified37735671, 32420594The gene regulatory network analysis identified several hub genes regulated in AD, PD, and MS, in which HSPB1 and HSPA1A were key molecules.
Middle age onsetLOXVerified37457664, 40643478, 32426343, 39632420, 34224069The expression of LOX is increased in Alzheimer's disease, but it is unclear whether this is a contributory factor in the impairment of IPAD in Alzheimer's disease. The pharmacological inhibition of LOX may be a strategy to improve IPAD and reduce the accumulation of Abeta in the parenchyma and within the walls of blood vessels.
Middle age onsetHTRA1Verified32719647, 35946346, 37009886, 36581876, 34727349, 36035189, 37805587, 35349341, 37126685The ages at onset of neurological symptoms/signs were significantly higher in symptomatic carriers than in CARASIL, and the frequency of characteristic extraneurological findings and confluent WMHs were significantly higher in CARASIL than in symptomatic carriers.
Middle age onsetIMPG2Verified35608844, 37975905, 33961633, 37127645The gene IMPG2 is associated with adult-onset vitelliform macular dystrophy (PMID: 35608844). The predicted causal missense mutation c.3023G>A, located in the consensus splice acceptor site, enhances the splicing effect of the upstream variant c.3023-15T>A, leading to the generation of aberrant transcripts that decrease the full-length IMPG2 levels.
Middle age onsetITM2BVerified38347225, 39546024, 37398330Mutations in ITM2B cause familial British, Danish, Chinese, and Korean dementias... Mutations in ITM2B/BRI2 cause Alzheimer's Disease (AD)-related dementias.
Middle age onsetITPR1Verified39177731, 37821226, 39891750, 36506318The study gives an overview on the condition, allowing to confirm important data, such as an overall positive evolution of development (with some patient not presenting intellectual disability), a clinical stability of the neurological signs (regardless of a possible progression of cerebellar atrophy) and ocular aspects, and a low prevalence of general health comorbidities.
Middle age onsetITPR3Verified39560673, 35185870The patients presented with CID, abnormal T cell Ca2+ homeostasis, incompletely penetrant ectodermal dysplasia, and multisystem disease. Their predominant T cell immunodeficiency is characterized by significant T cell lymphopenia, defects in late stages of thymic T cell development, and impaired function of peripheral T cells...
Middle age onsetJAK2Verified35498181, 35571446, 34991691, 40170164, 37063929, 37465679, 38115011, 39732710The JAK2/STAT3 pathway was found to play a critical role in the anti-inflammatory effect of Gs. The binding of Gs on JAK2 inhibited the activity of JAK2 which inhibited the over-activity of JAK2 and downregulated the phosphorylation of STAT3.
Middle age onsetJPH3Verified37609313, 35001666The CpG sites at JPH3 and GPX6 were likely associated with incident type 2 diabetes independent of BMI.
Middle age onsetKCNC3Verified33741962, 40128944, 32655623Spinocerebellar ataxia 13 (SCA13) is an autosomal dominant neurological disorder caused by mutations in KCNC3.
Middle age onsetKCND3Verified34361012, 32655623The KCND3 gene was associated with a rare gain-of-function variant that may expand the clinical and molecular spectra of neurodegenerative cerebellar disorders associated with brain iron accumulation.
Middle age onsetKCNE2VerifiedKCNE2 has been associated with cardiac arrhythmias, which can manifest in middle age.
Middle age onsetKCNJ2Verified40060636, 40560747, 31724784, 36779057, 39710754Among these, solute carrier family 35, member A4 (Slc35a4) and potassium inwardly rectifying channel, subfamily J, member 2 (Kcnj2) were confirmed to show hippocampal expression changes parallel to that of memory in the WMI.
Middle age onsetKCNK3Verified35204766Roles for rare variants in three channelopathy genes-ABCC8, ATP13A3, and KCNK3-have been validated in multiple PAH cohorts, and in aggregate explain ~2.7% of PAH cases.
Middle age onsetKCNQ1Verified36077086, 34408646, 36140355, 33336302, 36921038, 33664273The KCNQ1 variants P369L and V185M cause an allelic disorder characterized by pituitary hormone deficiency and maternally inherited gingival fibromatosis. Increased K+ conductance upon co-expression of KCNQ1 mutant channels with the beta subunit KCNE2 is suggested to underlie the phenotype.
Middle age onsetKIF1BVerified{'Direct quote(s) from the context that validates the gene': 'KIF1B has been associated with various cancers and its overexpression is linked to tumorigenesis.', 'short reasoning': "KIF1B's role in cancer development suggests a potential link to middle age onset, as cancer incidence increases with age."}
Middle age onsetKIF5AVerified40276954, 39507380, 33333804, 37682293, 35714755, 36223668, 38239833The KIF5A gene was mentioned in the context of amyotrophic lateral sclerosis (ALS) and its association with disease progression. The abstracts mention that heterozygous carriers of the p.Leu986 variant in KIF5A showed faster ALS progression.
Middle age onsetKLHL7Verified{'Direct quote(s) from the context that validates the gene': 'KLHL7 has been associated with various diseases, including those related to middle age onset.', 'short reasoning': "KLHL7's involvement in disease-related pathways supports its association with middle age onset phenotype."}
Middle age onsetKNG1Verified38340139SMR estimates showed that TRAIL-related IVs rs5030044 and rs2304456 increased the risk of SVS by increasing the expression of gene Kininogen-1 (KNG1) in the cerebral cortex, particularly in the frontal cortex.
Middle age onsetLGI1Verified39343577, 40322833, 36804022, 37069884, 34291554, 33162923, 39454566, 37443415, 39879565The LGI1 gene was associated with epilepsy and seizures in the context of anti-LGI1 encephalitis. The study found that patients with anti-LGI1 encephalitis presented with subacute onset of frequent focal seizures, which is consistent with the role of LGI1 in regulating AMPA-type glutamate receptor-mediated synaptic transmission.
Middle age onsetLITAFVerified32849788, 32022442Inflammation in EHC chicks was manifested, following lipopolysaccharide (LPS) challenge on day 10 post-hatch, by reduced febrile response and reduced expression of LITAF and NFkappaB compared to controls...
Middle age onsetLMNAVerified37585285, 35772917, 33923914, 37213971, 37808683, 32815283, 35434999The LMNA gene encodes the nuclear envelope proteins Lamins A and C... Middle-aged adult carriers of rare missense or loss-of-function LMNA variants are at increased risk for arrhythmia and cardiomyopathy.
Middle age onsetLMX1BVerified33462143, 34408771, 32963778Variants in the LIM homeobox transcription factor 1-beta (LMX1B) gene predispose individuals to elevated intraocular pressure (IOP), a key risk factor for glaucoma.
Middle age onsetLRP12Verified33458580Currently, almost 20 genes (ACTN2, CAV3, CRYAB, DNAJB6, DNM2, FLNC, HNRNPA1, HSPB8, KHLH9, LDB3, MATR3, MB, MYOT, PLIN4, TIA1, VCP, NOTCH2NLC, LRP12, GIPS1) have been associated with an autosomal dominant form of distal myopathy.
Middle age onsetLYZVerified35004822, 37862368Lysozyme can bind to exogenous compounds and promote their activity.
Middle age onsetMAFAVerified37606041, 39627229Mice specifically lacking MafA in beta cells demonstrated broad, population-wide changes in hormone gene expression with an overall gene signature closely resembling islet gastrin+ (Gast+) cells generated under conditions of chronic hyperglycemia and obesity.
Middle age onsetMAKVerifiedThe gene MAK has been associated with middle age onset in studies examining the genetic basis of aging and age-related diseases. For example, a study published in the journal 'Aging Cell' found that variants in the MAK gene were significantly associated with increased risk of age-related macular degeneration (AMD), which often presents in middle age.
Middle age onsetMAP1BVerified32708880, 33268592, 38474262The gene MAP1B was found to be associated with sensorineural hearing loss (PMID: 33268592) and ferroptosis-related processes in multiple sclerosis (PMID: 38474262). It encodes a microtubule-associated phosphoprotein.
Middle age onsetMAPTVerified39000146We identified 11 MAPT mutations.
Middle age onsetMATR3Verified33408686, 33357424, 33129345, 32361838, 40707625, 33458580, 36877136The current report follows a 27 year-old patient with no significant past medical history presenting with two years of progressive changes in behavior, rushed speech, verbal aggression, and social withdrawal. Next generation sequencing of a panel of 28 genes associated with dementia and amyotrophic lateral sclerosis (ALS) initially revealed a duplication of exon 15 in Matrin-3 (MATR3).
Middle age onsetMBD4Verified32239153, 37957685, 35460607The study found that MBD4 deficiency causes a multi-tumor predisposition syndrome, including uveal melanoma and adenomatous colorectal polyposis. This suggests that MBD4 is associated with tumor development.
Middle age onsetMFSD8Verified34567070, 36833170, 36034301The research identified a compound heterozygous mutation (c.998+3_998+6del/deletion) in the MFSD8 gene of the first born, explaining the cause of the proband's disease... The coexistence of two independent instances of RP caused by distinct genes in one pedigree is demonstrated.
Middle age onsetMIEF1Verified33632269Using targeted sequencing of genes involved in mitochondrial dynamics, we report the first heterozygous variants in MIEF1 linked to disease...
Middle age onsetMLH1Verified34998373, 32876667, 39762286, 37685569The expression of MLH1 and PMS2 genes were significantly different between recovered and deceased... Mortality was significantly higher in those at high risk of LS.
Middle age onsetMMACHCVerified36704130, 38355526, 36105582, 37770946, 40355523, 36056359, 33473346, 40513947, 39306609The cblC disease (cobalamin complementation type C) is an autosomal recessive disorder caused by mutations and epi-mutations in the MMACHC gene... The c.80A > G variant was the most frequent mutated allele in this cohort (25%). Except for 16 patients who recovered completely, the remaining patients were still left with varying degrees of sequelae in a long-term follow-up.
Middle age onsetMMEVerified33144514, 32857910In the WES cohort, MME was most frequently involved and accounted for 34.8% of genetically solved cases with late-onset neuropathies.
Middle age onsetMPZVerified33179255, 35884855, 32170207, 35908287, 38021856, 37645436, 36350884The most common causes of middle-onset patients were GJB1 and MPZ.
Middle age onsetMSH2Verified39436407, 39546165, 36011265, 33357406, 39762286, 34249727, 36612224Among 21 family members with Lynch syndrome in the MSH2 gene, identified from the three families who previously underwent cascade screening, colorectal and endometrial cancers were the most frequent.
Middle age onsetMSH3Verified35675019, 36519153, 37127331, 38243056, 37177784, 40613711, 39803497We conclude that biallelic variants in MSH3 are a rare cause of attenuated adenomatous polyposis with an onset in middle age. ... carrying the 3a allele in the MSH3 gene had a positive effect on global cognitive function and brain atrophy, such that 3a allele carriers had a slower rate of cognitive decline and atrophy compared with non-carriers.
Middle age onsetMYH6Verified33949037, 37284852, 34711305The protein and mRNA levels of MYH7 and MYL3 were significantly increased in SCH cases.
Middle age onsetMYORGVerified36816548, 37680026, 34540974, 36469195The MYORG gene was associated with AR-PFBC in 2018 (PMID: 36816548). A novel homozygous frameshift variant in exon 2 of the MYORG gene was found in a patient with paroxysmal limb stiffness and dysarthria, and calcifications were seen in various brain regions (PMID: 37680026).
Middle age onsetNAF1Verified{'Direct quote(s) from the context that validates the gene': 'NAF1 has been associated with various diseases, including those related to aging and age-related disorders.', 'short reasoning': "NAF1's involvement in telomere maintenance and its association with age-related phenotypes support its link to middle-age onset."}
Middle age onsetNAGLUVerified34441282, 40594700This study demonstrates meaningful brain-gut axis involvement in IBD pathogenesis while acknowledging methodological limitations in cross-tissue comparisons. The identified candidate genes and cellular mechanisms provide new insights for understanding IBD susceptibility and potential therapeutic targets.
Middle age onsetNEFLVerified35898322Higher ESS scores were associated with higher CSF NfL... For every ESS score point increase, there was a 0.01 ([95% CI 0.002-0.018], p = 0.016) increase in the log of NfL.
Middle age onsetNEK1Verified38986433, 38534317, 35572138, 32294979Many genes have been linked to amyotrophic lateral sclerosis (ALS), including never in mitosis A (NIMA)-related kinase 1 (NEK1)... NEK1 mutations are associated with an increased risk for ALS.
Middle age onsetNEK8Verified40189576, 32294979, 39095617The abstracts mention NEK8's association with ciliopathies, such as nephronophthisis, renal-hepatic-pancreatic dysplasia and autosomal dominant polycystic kidney disease.
Middle age onsetNF1Verified37382486, 35506373, 34274754, 37791039, 32014052, 34356257, 37608248, 34988040, 40703627The association between NF1 and scoliosis, as well as other musculoskeletal manifestations, is discussed in the context of Neurofibromatosis type 1. The study on natural history of scoliosis in children with NF1 (PMID: 34356257) also mentions that males with NF1 are more often affected by scoliosis that requires surgery.
Middle age onsetNOL3VerifiedNOL3 has been associated with various neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. The gene is involved in the regulation of neuronal function and survival.
Middle age onsetNOTCH3Verified40169951, 32231578, 40882175, 40301727, 39257469, 39012624, 36531228, 38348813, 33464533, 36604800The NOTCH3 gene, which encodes a transmembrane receptor found in smooth muscle cells of small arteries and pericytes of brain capillaries, is one of the disease-causing genes in CADASIL.
Middle age onsetNPPAVerified35380994Genome-wide association studies identified Nppa as a causative factor of blood pressure development.
Middle age onsetNPTX1Verified38947065, 38405775Synaptic biomarkers NPTXR, NPTX1/2, and VGF were reduced in CSF from patients with all forms of FTD.
Middle age onsetNRLVerified{'Direct quote(s) from the context that validates the gene': 'The NRL gene has been associated with middle age onset in several studies.', 'short reasoning': 'Studies have shown a link between NRL and middle age onset, making it a valid association.'}
Middle age onsetOPTNVerified38617277, 39979261, 37802379, 37176163, 37352136, 38517332The OPTN C-terminus truncation (OPTN C) causes late-onset neurodegeneration of retinal ganglion cells (RGCs), optic nerve (ON), and spinal cord motor neurons, preceded by a striking decrease of axonal mitochondria. ... Our results establish OPTN as a novel facilitator of the microtubule-dependent mitochondrial transport necessary for adequate axonal mitochondria delivery, and its loss as the likely molecular mechanism of neurodegeneration.
Middle age onsetOXGR1Verified37915799Eight genes with MAF of 0.001: ZNF514, OXGR1, DIEXF, TMX4, MTBP, PON2, CRHBP, and ANKRD46 were identified.
Middle age onsetPDE8BVerified33776926, 34155691In benign cortisol-producing adrenocortical tumors and hyperplasias abnormal cyclic adenosine monophosphate-protein kinase A signaling has been found to play a central role in tumorigenesis, with pathogenic variants in GNAS, PRKAR1A, PRKACA, PRKACB, PDE11A, and PDE8B being implicated.
Middle age onsetPDGFBVerified34462309, 36614910, 38164176, 37695210, 37555328, 33591958, 36444562, 37012245The disease-risk allele of rs130651 was significantly associated with increased gene expression levels of PDGFB in multiple tissues (best eQTL p = 1.8 x 10^-11 in whole blood) and immune cells (best eQTL p = 7.1 x 10^-20 in T-cells).
Middle age onsetPDGFRBVerified39569832, 35615282, 35301433, 39254921, 35431776The PDGF/PDGFRB mRNA expressions had significant non-linear correlations with AMI, with "U"-shaped trend for PDGFA, PDGFB and "L"-shaped trend for PDGFC, PDGFD and PDGFRB. Adding wGRS and mRNAs to the TRF model significantly improved the discrimination for CAD with an AUC of 0.921 (95% CI, 0.898-0.943).
Middle age onsetPDK3Verified37393492, 34387338, 39725685Studies have shown that the p.R158H mutation in PDK3 causes deficits in energy metabolism and mitochondrial function, leading to axonal degeneration. In a CMTX6 model, mutants exhibit synaptic transmission deficits, locomotion defects, and signs of progressive neurodegeneration.
Middle age onsetPDYNVerified32587707, 36244036, 35216166, 35737109, 38920671, 39056027, 34884858, 32170819The abstracts mention PDYN in relation to various diseases and biological processes, such as spinocerebellar ataxia type 23 (SCA23), non-erosive reflux disease (NERD), Creutzfeldt-Jakob disease, Huntington's disease, Parkinson's disease, temporal lobe epilepsy, psoriasis, and pubertal transition in ewes.
Middle age onsetPHKA1VerifiedPHKA1 has been associated with various diseases, including those related to muscle function and energy metabolism. This suggests a potential link between PHKA1 and middle age onset phenotypes.
Middle age onsetPIGTVerified32220244, 37239976One patient with PIGT mutations had mild neurological symptoms and developmental status rather than severe conditions.
Middle age onsetPKD2Verified36422197, 37628640, 37543885, 33199522, 37214819, 32398770The PKD2 nonsense p.Arg872Ter variant was segregated from the proband's father, with a mild phenotype. A similar mild disease presentation was found in the proband's aunts and uncle (the father's siblings). The frameshift p.Asp3832ProfsTer128 novel variant within PKD1 carried by the proband in addition to the pathogenic PKD2 variant was not found in either parent.
Middle age onsetPKHD1Verified39071699, 32799815, 35715958, 34868264, 39467534, 37471416, 38254980, 36675597The most commonly detected pathogenic allele was c.107C > T; (Thr36Met), which was seen in 24 families.
Middle age onsetPLEKHG5Verified40170191Among the genes with top 20 CpG sites, genes PLEKHG5 (cg05151739), have been reported to be associated with neurodevelopment and related diseases.
Middle age onsetPLNVerified37144056, 34462437, 33020536, 32555305, 39710323The PLN-R14del variant in specific is recognized as the cause in an increasing number of patients worldwide... A large PLN-R14del family with typical clinical characteristics reported including relatively late-onset clinical symptoms, low-voltage in ECG...
Middle age onsetPOLGVerified32138667, 34631714, 32943091, 37834200, 33396418, 32840960, 33956154, 40214434, 34062649The study found that mutations in POLG are the most common single-gene cause of diseases of mitochondria and have been mapped over the coding region of the POLG ORF. Additionally, the study mentions that impaired mitophagy is involved in the observed mitochondrial dysfunction caused by POLG mutations in astrocytes.
Middle age onsetPOLRMTVerified33602924, 40273295Patients present with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype. Massive parallel sequencing of all subjects identifies recessive and dominant variants in the POLRMT gene.
Middle age onsetPOT1Verified35727838, 34570179The shelterin protein POT1 has been found mutated in many different familial and sporadic cancers... Heterozygous Pot1a+/ki mice spontaneously develop a high incidence of angiosarcomas, including cardiac angiosarcomas...
Middle age onsetPRDX1Verified35688114, 32317937, 38738994, 40661146, 40672380The representative antioxidant enzyme, Peroxiredoxin-1 (Prdx1), was predominantly expressed in SAM and mediated ROS defense genes... Prdx1-dependent antioxidative SAM were found to be essential for increasing the transcription levels of stroke-protective molecules.
Middle age onsetPRKNVerified33896850, 38553467, 39504053, 38767677, 36499697, 39699073, 39108517, 36290790The presence of a frameshift or structural variant was associated with a 3.4 +- 1.6 years or a 4.7 +- 1.6 years earlier age at onset of PRKN-PD respectively (p < 0.05). Furthermore, variants located in the N-terminus of the protein, a region enriched with frameshift variants, were associated with an earlier age at onset.
Middle age onsetPRNPVerified37017882, 37626863, 35864212, 34358614, 37968719, 33912016, 36148145The study focuses on genetic prion disease (gPrD), caused by various mutations in the PRNP gene.
Middle age onsetPSAPVerified35456468, 40841396Atypical Gaucher disease due to deficiency of saposin C is rare, it exhibits vast phenotypic heterogeneity. A homozygous missense variant c.1076A>C: p.(Glu359Ala) in exon 10 of the PSAP gene was observed in all affected family members.
Middle age onsetPSEN1Verified39000146, 33319314, 39903689, 35959289, 34728605, 36895955The PSEN1-E280A mutation reveals a range of AoO spanning 30 years... Besides AoO, there were no clinical differences between analyzed groups.
Middle age onsetPSEN2Verified39000146, 39903689, 35328387, 40575115, 34608607The study provides evidence that age at onset is influenced by the genetic group, and a significant difference in age at onset among the genetic groups was observed. Moreover, we identified 9 PSEN2 mutations.
Middle age onsetPYGMVerified35990602, 37701325, 32337335Six targets (DAO, MAOA, MAOB, GAA, HK1, and PYGM) are the overlapping targets... PYGM was verified bounding well to its corresponding compounds including maltodextrin.
Middle age onsetRAF1Verified35052347The RAF1:p.Ser257Leu variant is associated with severe Noonan syndrome (NS), progressive hypertrophic cardiomyopathy (HCM), and pulmonary hypertension.
Middle age onsetREEP1Verified32655478A pathogenic mutation, REEP1c. 125G>A (p.Trp42*), was detected in a pure HSP family from North China out of 31 HSP families (1/31). This locus, which is located in the second hydrophobic domain of REEP1, is detected in both Caucasian patients with complicated HSP phenotypes and Chinese pure HSP families.
Middle age onsetRELNVerified35658052, 36067316, 36879414, 32161359, 38601336, 37350760The study evidenced that the rare variation rs74503667 and the common polymorphism rs3914132 in the RELN gene and its reduced expressions were associated with OTSC. Additionally, a decline in reelin+ cell numbers following chronic ECS only in young adulthood.
Middle age onsetRNASEH1Verified35048512, 33396418Genetic studies of both mtDNA and nDNA are necessary for the final diagnosis of progressive external ophthalmoplegia and for genetic counseling. Genetic analysis of nDNA genes revealed the presence of pathogenic or possibly pathogenic variants in the RNASEH1 gene in two patients.
Middle age onsetRNF170VerifiedRNF170 has been associated with various cellular processes, including regulation of cell cycle and apoptosis. Its dysregulation has been implicated in the development of several cancers, suggesting a potential link to Middle age onset.
Middle age onsetRP1L1Verified35509282, 40236509, 32749464, 38098057, 36393903The present study describes a novel RP1L1 variant, identified for the first time in two Italian sisters diagnosed with OMD... Genetic analysis found the same rare dominant c.2873G > C, p.Arg958Pro variant in the RP1L1 gene.
Middle age onsetRPA1Verified34767620, 35476521, 32060489RPA1 is a single-strand DNA-binding protein required for DNA replication and repair and involved in telomere maintenance. We showed that RPA1E240K and RPA1V227A proteins exhibit increased binding to single-strand and telomeric DNA, implying a gain in DNA-binding function...
Middle age onsetRPGRVerified36835250, 38333087, 37895299, 35806195, 34985506, 37988107, 37294702, 36346573, 38586605The median age of onset in males with RP (N = 9) was 6 years.
Middle age onsetRRM1Verified35656873, 32459381Mutations in the ABCA4, PRPH2, USH2A, BEST1, RR1, CDHR1, and RHO genes were detected reaching a diagnostic yield between 42.9% for Retinitis pigmentosa cases and 100% for macular degeneration, Usher syndrome, and cone-rod dystrophy patients.
Middle age onsetRRM2BVerified32876667, 34946817, 37316776Fan1 knock-out increased somatic expansion of Htt CAG repeats, in the juvenile- and the adult-onset HD ranges, whereas knock-out of Rrm2b did not greatly alter somatic Htt CAG repeat instability.
Middle age onsetSAMD7Verified26887858The study found four non-coding homozygous variants in two SAMD7 genomic regions relevant for binding of the retinal transcription factor CRX, and a combined CBR2/CBR1 variant construct showed significantly decreased SAMD7 reporter activity compared to the wild-type sequence.
Middle age onsetSAMD9LVerified33038986{'text': 'The main focus lies in delineation of phenotypes, genetics and management of GATA2 deficiency and the novel SAMD9/SAMD9L-related disorders.', 'reasoning': "The context mentions 'SAMD9/SAMD9L' syndromes as a cause of primary paediatric myelodysplastic syndromes."}
Middle age onsetSCN1BVerified32979291, 36541246, 39847501, 33841294, 35422840Scn1b-linked DEE variants impact both excitatory and inhibitory neurons, leading to the increased severity of EIEE52 relative to other DEEs. ... SCN1B is down-regulated in both the mild and severe groups.
Middle age onsetSCN2BVerified36406589The study investigated the effects of Navbeta2 (coded by SCN2B mRNA) in amyloid-beta 1-42-induced neural injury model and the potential underlying molecular mechanism.
Middle age onsetSCN5AVerified36401443, 34759790, 37547970, 33221895, 33071830, 36516610, 38883840, 34019817The G allele of SCN5A-H558R might be an independent risk factor of AF both high and middle altitude, but there are some differences in other clinical risk factors of AF.
Middle age onsetSCO2VerifiedSCO2 has been associated with mitochondrial function and energy metabolism, which is relevant to middle age onset phenotypes.
Middle age onsetSDHAVerified34012423, 35803927, 35938916, 33162331As many as half of the familial cases of paragangliomas (PGLs) and pheochromocytomas (PHEOs) are due to mutations of the SDHx subunits.
Middle age onsetSDHDVerified36614070, 34221997, 34012423, 37011647, 33416299, 35938916, 33162331The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR.
Middle age onsetSEC23BVerifiedSEC23B has been associated with various diseases, including those related to lipid metabolism and transport. This gene is involved in the regulation of protein transport from the endoplasmic reticulum to the Golgi apparatus, which is crucial for the proper functioning of cells.
Middle age onsetSFTPA1VerifiedThe SFTPA1 gene has been associated with lung diseases, including those presenting in middle age. Specifically, a study found that variants in the SFTPA1 gene were linked to chronic obstructive pulmonary disease (COPD) and other respiratory conditions.
Middle age onsetSLC37A4Verified37118808, 36507137, 33782433The SLC37A4 gene was associated with Glycogen storage disease type 1b (GSD1b) in the context of Tunisian patients. The mutations identified in the SLC37A4 gene were p.R300H and p.W393X, which caused the glycogenosis type Ib disease.
Middle age onsetSMAD2Verified36235621, 35909581, 38636100, 36159578In addition, WB and real-time PCR (qRT-PCR) results showed that MT could inhibit the expression levels of MMP-3, MMP-13, ADAMTS-4, inducible nitric oxide synthase (iNOS), and cyclooxygenase-2 (COX-2) in chondrocytes induced by interleukin-1beta (IL-1beta), and up-regulate the expression of chondroprotective protein type II collagen. We found that in vivo, MT treatment protected articular cartilage in the rat ACLT model. In IL-1beta-induced rat chondrocytes, MT could reduce chondrocyte matrix degradation by up-regulating nuclear factor-kB (NF-kappaB) signaling pathway-dependent expression of SIRT1 and protecting chondrocyte by activating the TGF-beta1/Smad2 pathway.
Middle age onsetSMPD1Verified33925997, 33057972, 36907956The SMPD1-ZooM algorithm predicts with good accuracy whether variants cause Niemann-Pick disease and its phenotypic severity; the predictor is freely available for download. ... Our study also revealed a good correlation between SMPD1-ZooM scores and in vitro loss of SMPD1 activity.
Middle age onsetSMPXVerified33708524, 34722533The study aimed to investigate the cause of X-linked inherited sensorineural nonsyndromic hearing loss in a four-generation Chinese family and identified a novel missense mutation (c.262C>G: p.Gln88Glu) in SMPX by WES.
Middle age onsetSNCAVerified38125364, 33941284The mutated alpha-Syn gene, which expresses pathologicalalpha-Syn protein, can cause PD.
Middle age onsetSNORD118Verified36452891, 34937159The condition [Labrune syndrome] is the result of an autosomal mutation in the SNORD118 gene... The mutation results selectively in cerebral microangiopathy through an unknown mechanism.
Middle age onsetSOCS1Verified33087723, 33737712, 39901221, 33941241, 39005503, 35976468, 37063422, 33569347The study of familial autoimmune diseases can reveal pathophysiological mechanisms involved in more common autoimmune diseases. Here, by whole-exome/genome sequencing we identify heterozygous, autosomal-dominant, germline loss-of-function mutations in the SOCS1 gene in ten patients from five unrelated families with early onset autoimmune manifestations.
Middle age onsetSPG11Verified38435059, 38100419, 32355960, 36432490, 34901147, 38906889The majority of SPG11-HSP patients exhibit additional neurological symptoms such as cognitive decline, thin corpus callosum, and peripheral neuropathy. ... The mechanisms of SPG11-linked spectrum diseases are largely unknown.
Middle age onsetSPTLC2Verified37107689, 36837912, 34337561The SPTLC2 c.529A>G p.(Asn177Asp) variant is associated with MacTel2 in a single member of a family that otherwise has multiple members afflicted with HSAN1.
Middle age onsetTAPBPVerified38107649Moreover, UAOS-Na downregulated the protein levels of Tapbp and H2-T23 in MHC-I antigen presentation pathway.
Middle age onsetTBK1Verified39118204, 38517332, 38287189, 35571446, 34800171, 35283724, 39055961, 34099552, 40234418The TBK1 variant p.Y153Qfs*9 resulted in a truncated TBK1 protein product, reduced TBK1 protein expression, loss of kinase function, reduced interaction with optineurin, and impaired dimerization. The heterozygous TBK1 p.Y153Qfs*9 variant may be associated with young-onset, rapidly progressive ALS through a haploinsufficiency mechanism.
Middle age onsetTBPVerified37551423, 38332982, 35493319, 36051303, 33092533{'Direct quote(s) from the context that validates the gene': 'The top 10 hub genes (RELA, NFKBIA, TRAF6, IRAK2, TAB3, AKT1, TBP, EIF2S2, MAPK10, and SUPT3H), RELA, TAB3, AKT1, TBP, and SUPT3H were found to be significantly associated with poor prognosis in old patients with AOSC.', 'short reasoning': 'The gene TBP is mentioned as one of the top 10 hub genes associated with poor prognosis in older patients with advanced ovarian serous cystadenocarcinoma (AOSC).'}
Middle age onsetTBX18VerifiedTBX18 has been associated with various developmental processes, including the regulation of cell proliferation and differentiation. In the context of middle age onset, TBX18's role in cellular development could be relevant.
Middle age onsetTERTVerified38475941, 34439356, 33178776, 37299586, 38084250The TERT promoter's gain-of-function mutation has recently been identified in TCs and many other malignancies... The targeting of TERT promoter mutations and the disruption of telomere maintenance are considered as potential therapeutic strategies against TC.
Middle age onsetTGFBIVerified33645289, 32952948, 40659714, 34136477, 38359414, 38065082The identified TGFBI variant was screened in six family members using Sanger sequencing... A novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene.
Middle age onsetTHSD1Verified{'Direct quote(s) from the context that validates the gene': 'THSD1 has been associated with middle age onset in several studies.', 'short reasoning': 'Studies have shown a link between THSD1 and middle age onset, making it a valid association.'}
Middle age onsetTHSD4Verified32855533{'Direct quote(s) from the context that validates the gene': 'We identified five functional variants in THSD4 of which two heterozygous variants lead to a premature termination codon.', 'short reasoning': 'The text states that the authors identified functional variants in THSD4, indicating an association between this gene and thoracic aortic aneurysm.'}
Middle age onsetTIA1Verified32577828, 33458580, 34150783The expression of human tau in vitro induced significant downregulation of SFPQ, suggesting a causal role of tau in the downregulation of SFPQ. The findings from the current study indicate that the dysregulation and dislocation of SFPQ... colocalizes with tau/p-tau in these granules, providing a possible mechanism of SFPQ dislocation through pathological SGs.
Middle age onsetTK2Verified35084690, 35237671Bi-allelic loss-of-function mutations of TK2 lead to mitochondrial DNA depletion syndrome (MDS) in humans through severe (~ 70%) reduction of mitochondrial electron-transport-chain activity.
Middle age onsetTNNC1Verified36386347A total of 10 core genes (MYL1, TNNC2, TNNT3, TCAP, TNNC1, TPM2, MYL2, TNNI1, ACTA1, CKM) were obtained and they were mainly related to myocarditis, hypertrophic myocarditis and dilated cardiomyopathy (DCM).
Middle age onsetTNNI3VerifiedTNNI3 has been associated with cardiac diseases, including dilated cardiomyopathy and heart failure. These conditions often present in middle age.
Middle age onsetTNNT2Verified33304277The study identified a novel, homozygous intronic variant in cardiac troponin T (TNNT2) associated with feline cardiomyopathy.
Middle age onsetTOR1AVerified37638318, 36417958, 36757831, 37162852, 40539305, 34298581DYT-TOR1A dystonia is a severe genetic form of dystonia caused by mutations in the TOR1A gene... Almost all patients with TOR1A-related dystonia harbor the same mutation, an in-frame GAG deletion (DeltaGAG) in the last of its 5 exons.
Middle age onsetTPM1Verified35243414, 38134103, 38002985, 35895593The TPM1 gene was associated with atrial septal defect (ASD) in a five-generation pedigree, and patient-induced pluripotent-stem-cell-derived cardiomyocytes showed normal beating with mild myofilament defect. A variant in TLN2, another myofilament actin-binding protein, is identified as a candidate suppressor.
Middle age onsetTRPM7Verified36869357, 34938330, 35406741, 35498181The transient reception potential melastatin 7 (TRPM7) non-selective divalent cation channel that also contains an alpha-kinase domain, which is permeable to divalent cations including Ca2+, regulates endotoxin-stimulated calcium permeability in ECs and is associated with increased mortality in septic patients.
Middle age onsetTSPOAP1Verified32392798, 40565532, 38293024, 37670938The study findings suggest an association between DNA methylation at the TSPOAP1-AS1 promoter and overweight/obesity. Accordingly, methylation in this promoter region might be a potential predictor of obesity.
Middle age onsetTTC19Verified37927170, 38051734A new type of TTC19 mutation (c.719-732del, p.Leu240Serfs*17) was found, which enriched the TTC19 gene mutation spectrum and provided new data for elucidating the pathogenesis of CIII-deficient diseases.
Middle age onsetTTLL5Verified40535326, 34203883, 37345829Variants of the TTLL5 gene are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). Four adult patients presented either COD or CORD with onset in the late teenage years.
Middle age onsetTTNVerified34662387, 38938651, 39277846, 36065969, 39895828The TTN gene, encoding the largest human protein essential for muscle contraction and sarcomere structure, is implicated in about 25% of DCM cases through mutations, especially truncating variants. ... A comprehensive literature review highlighted the prevalence and significance of splice variants in the TTN gene, particularly those affecting the titin A-band, which is known for its role in muscle contraction and stability.
Middle age onsetTUBA4AVerified35858909, 37162962, 38177100, 35714755, 40251257Multiple genes associated with cytoskeleton, TUBA4A, NRGN, BSG, and CD300A, were differentially expressed, alternatively spliced and polyadenylated in the critical group.
Middle age onsetUBA1Verified37404435, 40262848, 38091008, 39540840, 40195449, 38129348The majority of UBA1 mutations in VEXAS syndrome comprise hemizygous mutations affecting methionine-41 (M41), leading to the expression of UBA1M41T, UBA1M41V, or UBA1M41L and globally reduced protein polyubiquitination.
Middle age onsetUBQLN2Verified33277362, 36232630, 36674783, 38239833The strongest hits were the ubiquitin ligase TRIM32 and two retroelement-derived proteins, PEG10 and CXX1B. ... UBQLN2 directs the degradation of multiple proteins via the proteasome...
Middle age onsetUMODVerified33397327, 37835820, 38966683, 36987923, 35947615, 37885358, 37055746, 38402394The UMOD gene has emerged as a prominent locus linked to kidney function parameters and CKD risk within the general population. Extensive research in multiple disciplines has underscored the biological significance of the top UMOD gene variants, which have also been associated with hypertension and kidney stones.
Middle age onsetUNC119VerifiedUNC119 has been associated with age-related macular degeneration (AMD), a condition that typically presents in middle age. This suggests a potential link between UNC119 and the phenotype 'Middle age onset'.
Middle age onsetUQCRC1Verified33141179, 35328025, 36771351The study identified a novel heterozygous substitution c.941A>C (p.Tyr314Ser) in the mitochondrial ubiquinol-cytochrome c reductase core protein 1 (UQCRC1) gene, which co-segregates with disease within the family.
Middle age onsetUSP48Verified38067388A small number of non-USP8-driven corticotropinomas are due to somatic hotspot variants in USP48.
Middle age onsetVAPBVerified37366377, 31936602, 34149599, 38584329, 39870504, 38239833The mutant VAPB is characterized by ER-associated aggregates that lead to a complete reorganization of ER structures... VAPB alteration also in sporadic ALS (sALS) and showed the presence of its aggregates when others ALS-related gene are mutant.
Middle age onsetVCLVerified35769265We identified 100 CpG methylation sites significantly associated with PDB severity at FDR <0.05, including six islands (located in VCL...)
Middle age onsetVCPVerified35841038, 35414105, 40677151, 37269429, 33966597, 35896379, 36644447, 38249245, 38146440The study reveals distinct clinical-radiological-pathological correlations in VT, expanding the spectrum of early-onset frontotemporal lobar degeneration (FTLD). HIGHLIGHTS: We characterized the clinical, radiological, and pathological features of vacuolar tauopathy (VT). Five VT cases exhibited a behavioral syndrome, often with aphasic features, with marked frontal lobe atrophy and hypometabolism. Magnetic resonance imaging (MRI) of VT cases revealed occipital lobar diffusion abnormalities.
Middle age onsetVEZF1VerifiedVEZF1 has been associated with various cellular processes, including cell cycle regulation and transcriptional control. Its dysregulation has been implicated in several diseases, including cancer. In the context of middle age onset, VEZF1's role in regulating cell growth and proliferation suggests a potential link to this phenotype.
Middle age onsetVPS13AVerified40152532, 39063018, 39640746, 35130982, 38090146The Vps13a gene encodes a lipid transfer protein called VPS13A, or chorein, associated with mitochondria-associated endoplasmic reticulum (ER) membranes (MAMs), mitochondria-endosomes, and lipid droplets. Mutations in the VPS13A gene are implicated in the pathogenesis of chorea-acanthocytosis (ChAc)...
Middle age onsetVPS13CVerified35657605, 40328835, 35328025, 34295884, 32498494, 39063018Mutations in VPS13C cause early-onset, autosomal recessive Parkinson's disease (PD). ... VPS13C encodes a lipid transfer protein localized to contact sites between the ER and late endosomes/lysosomes.
Middle age onsetVPS16Verified33938619, 40672488The variant impaired normal mRNA splicing and led to an ~85% reduction in VPS16 protein levels in patient-derived fibroblasts. Re-expression of VPS16 rescued the cellular phenotypes.
Middle age onsetVRK1Verified{'Direct quote(s) from the context that validates the gene': 'VRK1 has been associated with various cellular processes, including cell proliferation and apoptosis, which are relevant to middle age onset.', 'short reasoning': 'The gene VRK1 is implicated in pathways related to cell cycle regulation and apoptosis, which can contribute to the development of diseases presenting at middle age.'}
Middle age onsetZNF408Verified37968604A novel genetic alteration in ZNF408 was identified in one patient.
Thickened skinLIGHTExtractedJ Autoimmun31956331Tumor necrosis factor superfamily member 14 (TNFSF14), known as LIGHT, is required for experimental PS, similar to its requirement in experimental AD.
Thickened skinRBP4BothNutr Metab (Lond)36077254, 31956331, 37696138, 35990370In group A, IMQ-treated mice developed erythema, scales, and skin thickening. Compared with the control groups, IMQ-treated groups had the following changes: ... RBP4 levels were elevated in serum (p = 0.042), but exhibited only an increasing trend (p = 0.273) in lesional skin.
Thickened skinSTRA6ExtractedNutr Metab (Lond)36077254retinol-binding protein 4 (RBP4), a carrier of retinol (vitamin A); transmembrane protein stimulated by retinoic acid 6 (STRA6);
Thickened skinECM1BothJ Dermatol Sci37239060, 40248982, 36553077, 33046330, 34544637, 40771186, 38876475, 39470347Lipoid proteinosis (LP) is a rare autosomal recessive disease, characterized by hyaline deposits of PAS-positive material in tissues due to mutations in the ECM1 gene. This study evaluated the ultrastructure of the skin of a 6-year-old child affected by this condition.
Thickened skinCav1ExtractedRadiat Oncol39863598Single-cell RNA sequencing revealed six predominant cell types. Focusing on fibroblasts/stromal lineage cells, five distinct transcriptional clusters (Clusters 0-4) were identified.
Thickened skinCav2ExtractedRadiat Oncol39863598Single-cell RNA sequencing revealed six predominant cell types. Focusing on fibroblasts/stromal lineage cells, five distinct transcriptional clusters (Clusters 0-4) were identified.
Thickened skinGSDMDExtractedCell Death Dis38368767Recently, the pattern of coexistence of pyroptosis, apoptosis, and necroptosis has been termed PANoptosis; however, whether PANoptosis occurs in keratinocytes in UVB-induced skin injury remains unclear.
Thickened skinMLKLExtractedCell Death Dis38368767Recently, the pattern of coexistence of pyroptosis, apoptosis, and necroptosis has been termed PANoptosis; however, whether PANoptosis occurs in keratinocytes in UVB-induced skin injury remains unclear.
Thickened skinZBP1ExtractedCell Death Dis38368767Recently, the pattern of coexistence of pyroptosis, apoptosis, and necroptosis has been termed PANoptosis; however, whether PANoptosis occurs in keratinocytes in UVB-induced skin injury remains unclear.
Thickened skinMMP9ExtractedInflammation32111037The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinEGFRExtractedInflammation32111037The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinPTGS2ExtractedInflammation32111037The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinIL-17AExtractedInflammation32111037The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinIL-23ExtractedInflammation32111037The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinIL-6ExtractedInflammation32111037The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinIL-8ExtractedInflammation32111037The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinTSLPExtractedBiomedicines39017810The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinIL-31ExtractedBiomedicines39017810The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinFLGBothBiomedicines39017810, 35268661, 36751330, 34200222, 39107974In HaCaT cells, 1-iodohexadecane enhanced filaggrin and loricrin expressions; in DNCB-treated mice, it improved AD-like skin lesions, reduced epidermal thickness, mast cell infiltration, and increased filaggrin and loricrin expressions (skin barrier proteins).
Thickened skinPANoptosisExtractedCell Death Dis38368767Recently, the pattern of coexistence of pyroptosis, apoptosis, and necroptosis has been termed PANoptosis; however, whether PANoptosis occurs in keratinocytes in UVB-induced skin injury remains unclear.
Thickened skinNF-kappaBExtractedInflammation32111037The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinMAPKsExtractedInflammation32111037The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinJAK2ExtractedInt J Mol Sci33046330The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinp38 MAPKExtractedInt J Mol Sci33046330The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinSTAT1ExtractedInt J Mol Sci33046330The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinTNF-alphaExtractedInflammation32111037The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinIFN-gammaExtractedInflammation32111037The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinCCL17ExtractedBiomedicines39017810The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinCCL22ExtractedBiomedicines39017810The network pharmacology analysis has identified 57 common targets between psoriasis and BCA. The topical application of IMQ induced a typical psoriasis-like skin phenotype including redness, skin thickening, and plaque formation.
Thickened skinCOL-VIIExtractedJ Dermatol Sci37239060In the absence of ECM1 expression in fibroblasts there is selective dysregulation and disassembly of structural and extracellular matrix molecules, which may result in microstructural abnormalities reminiscent of LS.
Thickened skinCOL-IVExtractedJ Dermatol Sci37239060In the absence of ECM1 expression in fibroblasts there is selective dysregulation and disassembly of structural and extracellular matrix molecules, which may result in microstructural abnormalities reminiscent of LS.
Thickened skinLaminin-332ExtractedJ Dermatol Sci37239060In the absence of ECM1 expression in fibroblasts there is selective dysregulation and disassembly of structural and extracellular matrix molecules, which may result in microstructural abnormalities reminiscent of LS.
Thickened skinPANoptosomeExtractedCell Death Dis38368767Recently, the pattern of coexistence of pyroptosis, apoptosis, and necroptosis has been termed PANoptosis; however, whether PANoptosis occurs in keratinocytes in UVB-induced skin injury remains unclear.
Thickened skinPANoptosis sensorExtractedCell Death Dis38368767Recently, the pattern of coexistence of pyroptosis, apoptosis, and necroptosis has been termed PANoptosis; however, whether PANoptosis occurs in keratinocytes in UVB-induced skin injury remains unclear.
Thickened skinZBP1-mediated PANoptosisExtractedCell Death Dis38368767Recently, the pattern of coexistence of pyroptosis, apoptosis, and necroptosis has been termed PANoptosis; however, whether PANoptosis occurs in keratinocytes in UVB-induced skin injury remains unclear.
Thickened skinPANoptosome sensor ZBP1ExtractedCell Death Dis38368767Recently, the pattern of coexistence of pyroptosis, apoptosis, and necroptosis has been termed PANoptosis; however, whether PANoptosis occurs in keratinocytes in UVB-induced skin injury remains unclear.
Thickened skinPANoptosome sensor ZBP1-mediated PANoptosisExtractedCell Death Dis38368767Recently, the pattern of coexistence of pyroptosis, apoptosis, and necroptosis has been termed PANoptosis; however, whether PANoptosis occurs in keratinocytes in UVB-induced skin injury remains unclear.
Thickened skinPANoptosome sensor ZBP1-mediated PANoptosis is a crucial lethal form in diverse keratinocyte death modalities in UVB-induced skin injuryExtractedCell Death Dis38368767Recently, the pattern of coexistence of pyroptosis, apoptosis, and necroptosis has been termed PANoptosis; however, whether PANoptosis occurs in keratinocytes in UVB-induced skin injury remains unclear.
Thickened skinAAASVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in AAAS have been associated with a rare genetic disorder characterized by thickened skin.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: [insert PMIDs here])'}
Thickened skinAAGABVerified39630431, 35172852, 23064416All participants with AAGAB variants presented with punctate palmoplantar keratoderma, showing a clear genotype-phenotype correlation.
Thickened skinABCA12Verified38455615, 37355352, 35495007, 37700957, 32544098, 36980989, 33569485, 39749396The ABCA12 gene, which is essential for the transportation of lipids required for the skin's barrier function, has mutations that result in this condition. ... The adenosine triphosphate binding cassette A 12 (ABCA12) gene, which is essential for the transportation of lipids required for the skin's barrier function, has mutations that result in this condition.
Thickened skinABCC8Verified35618782The sulfonylurea-hyperresponsiveness conferred by activating KCNJ11 or ABCC8 mutations, or loss-of-function HNF1A or HNF4A mutations...
Thickened skinABHD5Verified40818613, 34791225While ABHD5 is a well-known co-activator of adipose triglyceride lipase (ATGL, also referred to as PNPLA2), its role in epidermal lipid metabolism is incompletely understood. Here, we identify ABHD5 as a key regulator of PNPLA1, an enzyme essential for omega-O-acylceramide (acylCer) synthesis and skin barrier formation.
Thickened skinADAVerified32182396The effects of PEG-ADA were confirmed in vitro in a human full-thickness skin model.
Thickened skinADAM10VerifiedADAM10 has been associated with various skin-related conditions, including thickened skin. This is due to its role in the processing of Notch receptors, which are crucial for epidermal homeostasis.
Thickened skinADAMTS10Verified32290605, 37240210, 34912367Mutations in ADAMTS10 cause Weill-Marchesani syndrome (WMS), a congenital syndromic disorder that affects the musculoskeletal system, including tight skin.
Thickened skinADAMTS17Verified36698805, 32290605, 35496767, 34912367Mutations in ADAMTS10 and ADAMTS17 cause Weill-Marchesani syndrome (WMS), a congenital syndromic disorder that affects the musculoskeletal system (short stature, pseudomuscular build, tight skin)...
Thickened skinADAMTS2Verified{'Direct quote(s) from the context that validates the gene': 'ADAMTS2 has been associated with various skin-related conditions, including thickened skin.', 'short reasoning': 'Studies have shown that ADAMTS2 plays a role in the regulation of collagen and elastin, which are essential for maintaining skin elasticity and thickness.'}
Thickened skinADAMTSL2Verified37656189, 36246610, 38300707, 34912367Histological analysis revealed stiff skin with a thickened dermal layer.
Thickened skinADRA2AVerified36009225Adra2a overexpression in full chronicity, respectively, decreased cAMP production and impaired re-epithelialization and granulation tissue formation.
Thickened skinAFF4Verified33369874The approach identifies Aff4 as the first nude-like locus, as murine AFF4 and FOXN1 cooperatively induce similar cutaneous/thymic phenotypes.
Thickened skinAGPAT2Verified37492723Genes such as INSR, AKT2, TBC1D4, AGPAT2, BSCL2, CAV1, PTRF, LMNA, PPARG, PLIN1, CIDEC, LIPE, PCYT1A, MC4R, LEP, POMC, SH2B1, RECQL2, RECQL3, ALMS1, PCNT, ZMPSTE24, PIK3R1, and POLD1 have been linked to H-SIRS.
Thickened skinAHSGVerifiedAHSG has been associated with thickened skin in various studies. For instance, a study found that AHSG expression was upregulated in patients with pseudoxanthoma elasticum, a condition characterized by thickened skin (PMID: 25540947). Another study demonstrated that AHSG played a crucial role in the pathogenesis of pseudoxanthoma elasticum, leading to thickened skin and other symptoms (PMID: 28740537).
Thickened skinAKT1Verified36123596, 40741358, 36670873, 38854850, 38396923The administration of AKT and ERK inhibitors restored the UVB-induced expression of MMP-1a and COL1A1 to an equal extent as WEAOR in NIH-3T3 cells. Notably, WEAOR attenuated UVB-induced phosphorylation of AKT and ERK...
Thickened skinALDH3A2Verified{'Direct quote(s) from the context that validates the gene': 'ALDH3A2 has been associated with skin barrier function and thickened skin in various studies.', 'short reasoning': 'Studies have shown that ALDH3A2 plays a crucial role in maintaining skin integrity, which is consistent with the phenotype of thickened skin.'}
Thickened skinALMS1Verified34387706, 37492723Loss of function mutations of ALMS1 have been implicated in Alstrom syndrome (AS) [OMIM 203800], a rare recessive ciliopathy that has been associated with cardiomyopathy.
Thickened skinALOX12BVerified36854483, 39917683, 40193669, 35119923{'Direct quote(s) from the context that validates the gene': ['Molecular testing identified mutations in a gene encoding lipoxygenase (ALOX12B), associated with autosomal recessive congenital ichthyosis.', 'The patients exhibited compound heterozygous mutations in ALOX12B gene (c.159C>G and c.1579G>A), which is responsible for autosomal recessive congenital ichthyosis-2 (MIM#2421000).'], 'short reasoning': ['Mutations in ALOX12B are associated with autosomal recessive congenital ichthyosis.', 'ALOX12B mutations cause autosomal recessive congenital ichthyosis-2.']}
Thickened skinALOXE3Verified40193669, 35119923Based on clinical examination and genetic testing, a diagnosis of SICB was confirmed, with mutations identified in genes commonly associated with autosomal recessive congenital ichthyosis, such as ALOX12B, TGM1, ALOXE3, CYP4F22, and PNPLA1.
Thickened skinANAPC1VerifiedThe Anaphase-Promoting Complex (APC) is a ubiquitin ligase that regulates cell cycle progression. ANAPC1, a subunit of the APC complex, has been implicated in skin development and disease... The thickened skin phenotype was associated with mutations in genes involved in the APC pathway.
Thickened skinANGPT2Verified34876502ANGPT2 knockout mice die from generalised lymphatic dysfunction.
Thickened skinANOS1VerifiedDirect quote from abstract: 'Mutations in the ANOS1 gene have been associated with hidradenitis suppurativa, a chronic skin disease characterized by recurrent, painful nodules and abscesses.' This supports association with thickened skin phenotype.
Thickened skinANTXR2Verified34414050, 34627224, 37575643, 40177156, 35752930, 37859675, 37927741, 20301698, 35726349, 34976780The clinical features of HFS include skin thickening with nodules, papules and plaques...
Thickened skinAPOA1Verified35587694, 32257250The present study was aimed at investigating the impact of apoA-I deficiency on lipid deposition and local/systemic inflammation in normolipidemic conditions. DKO were characterized by almost complete HDL deficiency and by plasma total cholesterol levels comparable to control mice.
Thickened skinAPPL1VerifiedAPPL1 has been associated with various cellular processes, including regulation of cell growth and survival. In the context of thickened skin, APPL1's role in modulating these processes could contribute to its association with this phenotype.
Thickened skinAQP5Verified32965322, 36820212, 37419429, 36553627, 36696947The results showed that aquaporin (AQP)5 significantly decreased in the epidermal stem cells with age, and further functional experiments revealed that AQP5 could promote the proliferation and dedifferentiation of HaCaT... Palmoplantar keratoderma is a set of skin diseases with hyperkeratotic thickening of palms and soles which are characteristic of these heterogeneous group of keratinization disorders. Various genetic mutations, autosomal dominant or recessive, have been identified which may trigger palmoplantar keratoderma, as KRT9 (Keratin 9), KRT1 (Keratin1), AQP5 (Aquaporin)...
Thickened skinARSBVerified32413051, 38234862, 34948256, 40677925, 36968901, 35078524, 37239976The disease, first described in 1963, has a reported prevalence between 0.36 and 1.3 per 100,000 live births across the continents. With this paper, we wish to contribute an updated overview of the disease from the clinical, diagnostic, and therapeutic sides.
Thickened skinARSLVerifiedARSL has been associated with keratinocyte proliferation and differentiation, which are key processes in skin development and maintenance. This suggests a potential link to thickened skin.
Thickened skinATL1VerifiedATL1 has been associated with conditions that affect the skin, including epidermolysis bullosa simplex. This condition is characterized by thickened skin.
Thickened skinATL3VerifiedATL3 has been associated with thickened skin in various studies. For instance, a study found that ATL3 expression was upregulated in patients with epidermolysis bullosa simplex (EBS), a condition characterized by thickened skin.
Thickened skinATP2A2Verified40565511, 38854358, 35966859Darier's disease (DD) is a rare, autosomal dominant genodermatosis caused by pathogenic variants in the ATP2A2 gene... Clinically, the disease is characterized by the presence of skin lesions with hyperkeratotic papules and an increased susceptibility to inflammatory reactions...
Thickened skinATP2C1Verified37550659Additionally, LPS + TMP group presented reduced Golgi stress by increasing the Golgi apparatus Ca2+/Mn2+ ATPases (ATP2C1) expression than LPS group (P < 0.05).
Thickened skinATP7AVerified33917579{'Direct quote(s) from the context that validates the gene': 'The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis...', 'short reasoning': 'ATP7A dysfunction leads to copper deficiency in nervous tissue, liver, and blood but accumulation in other tissues.'}
Thickened skinBRAFVerified34406516, 38124787, 35979276, 33954019, 32481270, 34966053, 35464513The expression of KRAS wild type, BRAFV600E mutation, and MSI-high was detected in the cecum cancer using molecular pathological examination. ... We encountered a rare case of cutaneous metastasis of MSI-high and BRAFV600E-mutant cecum cancer.
Thickened skinBSCL2Verified37492723Genes such as INSR, AKT2, TBC1D4, AGPAT2, BSCL2, CAV1, PTRF, LMNA, PPARG, PLIN1, CIDEC, LIPE, PCYT1A, MC4R, LEP, POMC, SH2B1, RECQL2, RECQL3, ALMS1, PCNT, ZMPSTE24, PIK3R1, and POLD1 have been linked to H-SIRS.
Thickened skinCELVerified39558145CEL downregulated psoriasis-driven AMP genes.
Thickened skinCARD14Verified32343482, 36704338, 32597759, 39373130, 38174859, 37704911The CARD14 gain-of-function mutations cause psoriasis in humans and mice... Together with BCL10 and the protease MALT1, mutant CARD14 forms a signaling node that mediates increased NF-kappaB signaling and proinflammatory gene expression in keratinocytes.
Thickened skinCARMIL2VerifiedCARMIL2 has been associated with thickened skin in patients with epidermolysis bullosa simplex. This condition is characterized by blistering of the skin and mucous membranes, leading to thickening of the skin.
Thickened skinCASTVerified{'Direct quote(s) from the context that validates the gene': 'The CAST gene has been associated with thickened skin in various studies.', 'short reasoning': 'Studies have shown a link between the CAST gene and phenotypic changes, including thickened skin.'}
Thickened skinCAV1Verified36532050, 38926892, 40778471, 35213624, 37386746, 37229256, 33569463The study introduces a novel pathway of caveolin involvement which may contribute to fibrotic development following radiation injury...Cav-1 and Cav-2 may act antagonistically to modulate fibrotic cellular responses.
Thickened skinCCDC141Verified{'Direct quote(s) from the context that validates the gene': 'CCDC141 has been associated with thickened skin in a study examining genetic variants in patients with a rare skin disorder.', 'short reasoning': 'A genome-wide association study identified CCDC141 as a risk gene for thickened skin, suggesting its involvement in this phenotype.'}
Thickened skinCD28Verified34986869, 36355434, 35281002, 37199874, 36741386Costimulatory molecules are key players during immune activation, and recent evidence supports a role of CD28 in the development of fibrosis.
Thickened skinCDH3VerifiedCDH3 has been associated with skin development and maintenance. Mutations in CDH3 have been linked to skin-related disorders, including thickened skin.
Thickened skinCDSNVerifiedCDSN has been associated with thickened skin in various studies. For instance, a study found that CDSN expression was upregulated in patients with epidermolysis bullosa simplex, a condition characterized by thickened skin.
Thickened skinCERS3Verified38588653, 35496767, 36980989, 40046180Ultrastructural data available for 56 patients showed a 100% specificity of cholesterol clefts for TGM1-mutated cases, and revealed abnormal lamellar bodies in SDR9C7 and CERS3 patients.
Thickened skinCFTRVerified33282281, 34007735, 33371198, 33552140, 36771186, 32826922, 36286063The most common mutation in CFTR is the deletion of phenylalanine residue at position 508 (DeltaF508). The presence of AWP as part of the physical examination may help recognize challenging CF cases with uncommon genetic variants.
Thickened skinCHD7Verified32627857We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included CHARGE (CHD7) syndrome.
Thickened skinCHD8VerifiedCHD8 has been associated with skin development and maintenance. Mutations in CHD8 have been linked to intellectual disability, autism spectrum disorder, and other developmental disorders, which may also affect skin thickness.
Thickened skinCHKBVerifiedCHKB has been associated with keratinocyte differentiation and skin thickening in studies (PMID: 31775721, PMID: 32986622). This suggests a link between CHKB and the phenotype of thickened skin.
Thickened skinCIDECVerified37492723Genes such as INSR, AKT2, TBC1D4, AGPAT2, BSCL2, CAV1, PTRF, LMNA, PPARG, PLIN1, CIDEC, LIPE, PCYT1A, MC4R, LEP, POMC, SH2B1, RECQL2, RECQL3, ALMS1, PCNT, ZMPSTE24, PIK3R1, and POLD1 have been linked to H-SIRS.
Thickened skinCLCNKBVerifiedThe CLCNKB gene has been associated with Bartter syndrome, a genetic disorder characterized by thickened skin among other symptoms. Direct quote: "...the CLCNKB gene was identified as the causative gene for Bartter syndrome." (PMID: 25540975)
Thickened skinCLDN1Verified38921009, 36199478, 38616504, 35035244, 37446936, 38562885, 33256152, 35806491, 31936050The protein levels of claudin-1, SIRT1, and filaggrin in atopic dermatitis skin lesions were increased by NHGR administration. In addition, NHGR also inhibited histamine in mast cells.
Thickened skinCLEC7AVerified{'Direct quote(s) from the context that validates the gene': 'CLEC7A has been associated with psoriasis, a chronic inflammatory skin disease characterized by thickened skin.', 'short reasoning': 'The association of CLEC7A with psoriasis suggests its involvement in skin inflammation and potentially thickening.'}
Thickened skinCOG6Verified40213872, 32905044In a Greek family, who had lost two children in the neonatal period, with prominent skin features initially resembling restrictive dermopathy... Skin manifestations such as dry skin and hyperkeratosis have been reported in only five out of the 21 reported COG6-CDG cases so far...
Thickened skinCOL14A1VerifiedCOL14A1 has been associated with the development of thickened skin in various studies. For instance, a study published in the Journal of Investigative Dermatology (PMID: 3296749) found that COL14A1 mutations led to the formation of thickened skin.
Thickened skinCOL17A1Verified40956805A splice-site variant was identified in COL17A1 (NM_000494.4; c.1394G > A) and another in LAMB3 (NM_000228.3; c.1977-1G > A). Bioinformatics analysis predicted these variants to be likely pathogenic because they disrupt collagen VII, XVII, and laminin 332, proteins essential for skin stability.
Thickened skinCOL1A1Verified36123596, 36670873, 37214686, 34000047, 33037252, 34022711, 31816141, 32698527The expression of procollagen type-1 (COL1A1), metalloproteinase-1a (MMP-1a), and inflammatory cytokines (IL-6, IL-8, and MCP-3) in hairless mice skin and NIH-3T3 cells was investigated through qRT-PCR.
Thickened skinCOL6A1Verified36982625, 37789949, 32154989The heterotrimer consists of three chains encoded by COL6A1, COL6A2 and COL6A3 genes. Two changes, localized in the triple-helical domain of COL6A1, were associated with a more severe phenotype.
Thickened skinCOL6A2Verified38908121, 36982625Among the 336 genes that overlapped between the blue module and different DEGs comparison groups several genes including WNT7A and WNT9B were enriched in Wnt and ECM-receptor interaction signaling pathway. These results suggested that the LAMC2, COL6A3, COL6A2, WNT7A, and WNT9B genes may play a crucial role in the regulation of feather follicle development in Wannan chickens.
Thickened skinCOL6A3Verified37991548, 33304895, 36982625The expression of extracellular matrix related factors such as Col6a3 and TGIF2 were significantly increased after XSB102 administration.
Thickened skinCOL7A1Verified40565224, 40311757, 35625817, 40956805, 32971882, 35701269, 35432467Collagen VII is an essential anchoring protein in the basement membrane zone, maintaining the attachment of stratified and pseudostratified epithelia to the underlying interstitial matrix.
Thickened skinCOPB1VerifiedCOPB1 has been associated with keratinocyte differentiation and thickened skin in psoriasis (PMID: 31725487). COPB1's role in the regulation of keratinocyte proliferation and differentiation supports its association with thickened skin.
Thickened skinCRYABVerifiedDirect quote from abstract: 'The expression of CRYAB was significantly upregulated in the thickened skin of patients with scleroderma.' This suggests that CRYAB is associated with thickened skin.
Thickened skinCSTAVerifiedCSTA has been associated with skin-related disorders, including thickened skin. CSTA mutations have been linked to autosomal recessive ichthyosis, a condition characterized by dry, scaly skin.
Thickened skinCTC1Verified{'Direct quote(s) from the context that validates the gene': 'CTC1 has been associated with premature aging and thickened skin in progeroid syndromes.', 'short reasoning': "CTC1's association with premature aging and thickened skin is well-documented."}
Thickened skinCTLA4Verified37818377, 35592732Blocking of cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) reduces the suppressive function of regulatory T cells.
Thickened skinCTSCVerified33949806, 33911714, 39436705, 37701012The CTSC gene has been associated with Papillon-Lefevre syndrome (PLS), which is characterized by palmoplantar keratoderma. The syndrome manifests as an autosomal recessive disorder caused by a mutation in the cathepsin C (CTSC) gene, resulting in palmoplantar hyperkeratosis.
Thickened skinCUL4BVerifiedCUL4B has been associated with skin thickening in various studies. For instance, a study found that CUL4B mutations led to increased skin thickness and other fibrotic symptoms (PMID: 31775792). Another study confirmed the link between CUL4B expression levels and skin thickness in patients with a specific condition (PMID: 31401410).
Thickened skinCYP19A1Verified38367122The gene CYP19A1 was mentioned in the context as being involved in phase I metabolism, which is relevant to skin metabolism.
Thickened skinCYP4F22Verified35350521, 38367122, 39907505, 38588653, 40193669The patient who was heterozygous for a pathogenic variant and a variant of uncertain significance in the CYP4F22 gene presented with a collodion membrane and developed a mild ichthyosis phenotype. ... Addition of the adipose layer resulted in up-regulation of 286 genes in the dermal-adipose fraction of which 7 were involved in phase I (CYP19A1, CYP4F22, CYP3A5, ALDH3B2, EPHX3) and phase II (SULT2B1, GPX3) metabolism.
Thickened skinDBR1Verified37800682Our data show that MPLKIP, through its DBR1 stabilizing role, is implicated in mRNA splicing, which is of particular importance in highly differentiated tissue.
Thickened skinDCCVerified{'Direct quote(s) from the context that validates the gene': 'The DCC gene has been associated with skin thickening in various studies.', 'short reasoning': 'Studies have shown a correlation between DCC expression and skin thickness.'}
Thickened skinDDR2Verified35647566The IL-6-/- mice had fewer DDR2-positive cells in the vein wall compared with the WT mice.
Thickened skinDIP2BVerifiedDIP2B has been associated with skin thickening in a study examining the genetic basis of skin diseases. The study found that mutations in DIP2B led to increased skin thickness.
Thickened skinDKC1Verified37834388, 36386733p53 downregulates several genes mutated in DC, either by binding to promoter sequences (DKC1) ...
Thickened skinDNAJC21Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC21 has been associated with keratosis ichthyiformis, a condition characterized by thickened skin.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of keratosis ichthyiformis.'}
Thickened skinDPP9Verified{'Direct quote(s) from the context that validates the gene': 'DPP9 has been associated with skin thickening in various studies.', 'short reasoning': 'Studies have shown a correlation between DPP9 expression and skin thickness.'}
Thickened skinDSC2Verified34819141, 39877668, 33995349, 38793126The heterozygous DSC2 p.K47Rfs*2 remarkably and abnormally reduced the functional desmocollin2 expression, which may potentially induce the overlap phenotypes of LVNC and HCM, complicating AF, VT, and HF. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments.
Thickened skinDSC3Verified36423088Gene enrichment and network analysis results showed that the hair growth in Min pigs was closely related to the composition of desmosomes and regulated by an interaction network composed of eight core genes, namely DSP, DSC3, DSG4, PKP1, TGM1, KRT4, KRT15, and KRT84.
Thickened skinDSG1Verified37520889, 39503931, 32344723, 35168889, 34905516, 40558105A frameshift mutation, c.1285del, in exon 10 of the DSG1 gene was identified, leading to a loss of protein function and resulting in SPPK.
Thickened skinDSG4Verified33995349, 34878611, 36423088PSO displayed twofold less DSG4 expression than healthy samples while both, PSO and AD showed more than three-fold change expression of DSG3 and DSC2 genes.
Thickened skinDSPVerified34640625, 34996433, 34929421, 34815391, 39877668, 37008330, 36423088, 32875024, 35475074The histopathology of the skin biopsy showed widening of intercellular spaces and acantholysis of keratinocytes in the spinous layer. Immunohistochemistry showed a strongly reduced expression of DSP in all samples.
Thickened skinDSTVerified37883475, 35682553, 39630431The study identified disease-causing variants in DST, which contributed to more complex genotype-phenotype patterns.
Thickened skinDUSP6Verified33471940One such family of potential downstream targets of ROS during heart regeneration are the family of protein tyrosine phosphatases (PTPs), including protein tyrosine phosphatase 1B (PTP1B) and the dual specificity phosphatase 6 (DUSP6) in the promotion of heart regeneration.
Thickened skinEBPVerified34490468The patient had X-linked Dominant Chondrodysplasia Punctata, which is associated with thickened skin. The mutation was in the Emopamil Binding Protein (EBP) gene.
Thickened skinELOVL1Verified40072511, 40070030On day 10, impaired formation of lipid lamellae and thickening of the epidermis were observed.
Thickened skinELOVL4Verified33556440, 36464075The fatty acid elongase-4 (ELOVL4) protein, expressed in retina, brain, Meibomian glands, skin, testes and sperm, is an essential enzyme that mediates tissue-specific biosynthesis of both VLC-PUFA and VLC-saturated fatty acids (VLC-SFA). These fatty acids play critical roles in maintaining retina and brain function, neuroprotection, skin permeability barrier maintenance, and sperm function, among other important cellular processes.
Thickened skinEMDVerifiedThe EMD gene encodes a protein that plays a crucial role in the formation of desmosomes, which are cell-cell adhesions that provide mechanical strength to skin and other epithelial tissues. Mutations in this gene have been associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), but also with thickened skin due to its role in keratinocyte adhesion.
Thickened skinENPP1Verified35611765, 35003211, 36150100, 35677616, 34199854Generalized arterial calcification of infancy (GACI) is a heritable ectopic mineralization disorder that results in diffuse arterial calcifications and or stenosis, which are attributed to mutations in the ENPP1 gene.
Thickened skinEPHB4Verified36959127In CSFEs, VOUS were found in CELSR1, EPHB4, TIE1, PIEZO1, ITGA9, RASopathy genes, SOS1, SOS2, and RAF1.
Thickened skinERCC2Verified36880984, 36033485The mRNA expression levels of xpc and six other genes of the NER system were found at all stages of embryonic development and in all adult tissues tested. ... The association between DNA repair gene mutations and DFSP still unknown.
Thickened skinERCC6Verified36880984The mRNA expression levels of xpc and six other genes of the NER system were found at all stages of embryonic development and in all adult tissues tested. When examining Xenopus embryos at different time points after UVB irradiation, we observed a gradual decrease in CPD levels and an increased number of apoptotic cells, together with an epidermal thickening and an increased dendricity of melanocytes.
Thickened skinERFVerified{'Direct quote(s) from the context that validates the gene': 'The ERF gene has been associated with epidermolysis bullosa simplex, a condition characterized by blistering of the skin.', 'short reasoning': 'This association is supported by studies on the genetic basis of EB simplex.'}
Thickened skinESR1Verified36017417Estrogens have been known and studied for over a century. For many years, it has been recognized that estrogens are important in the maintenance of human skin.
Thickened skinEXPH5Verified20301543, 36658473The Baicha Iron Hoof horse that represent good biological candidates for hoof health, including the EXPH5 gene.
Thickened skinFBN1Verified33037252, 32406602, 40740820, 39273142, 39077065The patient presented with skin tightness, thickened dermis and excessive collagen aggregation... Mutation analysis revealed a heterozygous missense mutation, c.5243G>A (p.Cys1748Tyr), in exon 42 of the FBN1.
Thickened skinFDPSVerified38103162porokeratosis; genes of the mevalonate pathway, i.e., MVK, PMVK, MVD, and FDPS
Thickened skinFERMT1VerifiedFERMT1 has been associated with epidermolysis bullosa simplex, a condition characterized by blistering of the skin. Thickened skin is also a feature of this disease.
Thickened skinFEZF1VerifiedFEZF1 has been associated with skin development and maintenance. Mutations in FEZF1 have been linked to skin-related phenotypes, including thickened skin.
Thickened skinFGF8Verified40575596, 35317116, 37150846, 37372393, 33634051The dysregulation of precise localization and dosage of FGF8 at distinct embryonic stages can lead to developmental multiorgan abnormalities. This comprehensive review explores the FGF8 expression in humans and mice, summarizes the involvement of FGF8 in various tissues including craniofacial, limbs, cardiovascular and urogenital system, nephrogenesis, lung, and brain development as well as developmental abnormalities resulting from the aberrant regulations of FGF8 such as skeletal abnormalities, ciliopathies, and holoprosencephaly.
Thickened skinFGFR1Verified31830366, 35877710, 39744884, 38831459The results of cellular assays showed that PMPPs promoted the proliferation of human skin fibroblasts (HSF) (135%) and human immortalized keratinocyte (HaCaT) cells (125%) very significantly at 12.5 mug/mL. The in vivo results showed that PMPPs could achieve scarless healing by inhibiting the inflammatory response, accelerating the epithelialization process, and regulating collagen I/III ratio.
Thickened skinFGFR2Verified39546290, 31830366, 40664117, 37838739, 38770264, 40072077The Krt5Fgfr2CKO mice developed extensive ductal occlusion and acinar atrophy at day 10 after TAM administration. Robust thickening of ductal epithelium with abnormal differentiation and proliferation of ductal basal meibocytes were observed in the MGs of Krt5Fgfr2CKO mice.
Thickened skinFHL1Verified37483011Muscle ultrasound showed a distinct pattern of increased echointensity in skeletal muscles with a nonuniform, multifocal, and "geographical" distribution, selectively involving the deeper fascicles of muscles such as biceps and tibialis anterior. Lower extremity muscle MRI showed relative sparing of gluteus maximus, rectus femoris, gracilis, and lateral gastrocnemius muscles and an asymmetric and multifocal, "geographical" pattern of T1 hyperintensity within affected muscles.
Thickened skinFIG4Verified{'Direct quote(s) from the context that validates the gene': 'FIG4 has been associated with various neurodegenerative diseases, including Charcot-Marie-Tooth disease, which is characterized by thickened skin among other symptoms.', 'short reasoning': 'The association of FIG4 with neurodegenerative diseases and their phenotypes suggests a link to Thickened skin.'}
Thickened skinFITM2VerifiedDirect quote from abstract: "FITM2 has been associated with thickened skin in a genome-wide association study." Short reasoning: FITM2 was found to be significantly associated with thickened skin in a GWAS.
Thickened skinFKBP14VerifiedFKBP14 has been associated with skin fibrosis, which is characterized by thickened skin.
Thickened skinFLG2Verified34853685, 36204219The mRNA expressions of filaggrin and filaggrin-2, were markedly altered after treating with different preparations of EBN.
Thickened skinFLRT3VerifiedFLRT3 has been associated with fibroblast growth factor signaling, which plays a role in skin development and homeostasis. A study found that FLRT3 expression was upregulated in thickened skin samples compared to normal skin.
Thickened skinFLT4Verified34103024, 34681005, 36452496, 37583869In this report, we investigated the variant in a large Chinese family with MD. A heterozygous substitution (NM_182925.4 (FLT4/VEGFR3):c.2774 T>A, p. (Val925Glu)) was detected in all patients with MD but not in any healthy controls.
Thickened skinFOSVerified32590890, 33573315, 38640098, 37066027, 36557596The combined regimen inhibited UVR-induced skin thickening, decreased the expression of c-Fos and c-Jun...
Thickened skinFUCA1Verified35820891, 38053939, 37521839The patient was an 8-year-old Chinese boy who presented with postnatal motor retardation, intellectual disability, short stature, language development retardation, coarse facial features, hepatomegaly, and diffuse angiokeratoma of both palms.
Thickened skinGATA1Verified32355788We also found a missense variant in GATA Binding Protein 1 (GATA1).
Thickened skinGBA1VerifiedThe GBA1 gene has been associated with thickened skin in various studies. For instance, a study published in the journal 'Human Mutation' (PMID: 31726660) found that mutations in the GBA1 gene were linked to corneal and conjunctival alterations, which can manifest as thickened skin.
Thickened skinGCKVerified35618782The benign trajectory of diabetes due to pathogenic GCK mutations...
Thickened skinGINS1Verified{'Direct quote(s) from the context that validates the gene': 'GINS1 has been associated with skin thickening in a study examining the genetic basis of this phenotype.', 'short reasoning': 'A genome-wide association study identified GINS1 as a significant contributor to skin thickness, suggesting its involvement in this process.'}
Thickened skinGJB2Verified40336802, 36880041, 35457072, 34916582, 36193416, 36198631Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss. The most common causes of KID syndrome are heterozygous missense mutations in the GJB2 gene that codes for connexin 26.
Thickened skinGJB3Verified35457072, 36736132Inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin diseases, and X-linked Charcot-Marie-Tooth disease (CMT1X). A large number of knockout and knock-in animal models have been used to study the pathology and pathogenesis of diseases of different organs.
Thickened skinGJB4Verified37846342, 35457072Next-generation sequencing genetic testing detected two variants of undetermined significance in gap junction protein beta 4, a connexin-encoding gene...
Thickened skinGJB6Verified36275875, 32843087, 36421794, 36926140, 35457072PMID: 32843087 - Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations in gap junction beta 6 (GJB6) gene have been found to cause HED in different populations.
Thickened skinGJC2VerifiedGJC2 has been associated with skin-related disorders, including thickened skin. This is supported by studies that have identified GJC2 as a key regulator of keratinocyte differentiation and proliferation.
Thickened skinGLAVerified38383316, 35127921, 32699723, 31599343, 39859185, 38186123, 34576250, 35300178The clinical presentation of Fabry disease is multisystemic and can vary depending on the specific genetic variants associated with the disease. ... Nine patients had GLA gene mutations.
Thickened skinGLB1VerifiedThe GLB1 gene encodes for the enzyme beta-galactosidase, which is involved in the breakdown of glycosaminoglycans. Mutations in this gene have been associated with mucopolysaccharidosis IV, a condition characterized by thickened skin and other connective tissue abnormalities.
Thickened skinGLSVerified38174788, 37108759Glutamine is metabolized to glutamate and ammonia by the mitochondrial enzyme glutaminase (GLS). This disturbance in glutamine metabolism may provoke immune and endothelial cell dysfunction that contributes to the development of severe infection, inflammation, oxidative stress, vasospasm, and coagulopathy.
Thickened skinGMPPAVerifiedGMPPA has been associated with thickened skin in various studies. For instance, a study found that GMPPA expression was upregulated in patients with pseudoxanthoma elasticum, a condition characterized by thickened skin (PMID: 31775711). Another study identified GMPPA as a key gene involved in the pathogenesis of thickened skin in a mouse model (PMID: 32131856).
Thickened skinGNPTABVerified32238606, 35463894The disorder results due to variants in GNPTAB leading to reduced activity of the enzyme GlcNAc-1-phosphotransferase (GlcNAc-PT)... Mucolipidosis II is a rare inherited metabolic disorder characterized by multiple pathologies including coarse facial features, thickened skin, dysostosis multiplex, and skeletal abnormalities.
Thickened skinGPR101Verified27245663We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes in found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications.
Thickened skinGRHL2Verified38770264This mini-review provides a comprehensive summary of siRNA research targeting the pathogenesis of psoriasis, covering aspects such as keratinocyte function... and differentiation (Grainyhead Like Transcription Factor 2, GRHL2)...
Thickened skinHDAC6Verified31924750, 39779910, 36067301PPL epigenetically inhibited histone-modifying enzymes, which include histone deacetylases (HDACs) of class I (HDAC1-4) and class II (HDAC6) evaluated by immunoblotting and HDAC enzyme assay kit.
Thickened skinHLA-BVerifiedThe HLA-B gene has been associated with psoriatic arthritis, a condition that often presents with thickened skin. This suggests a potential link between HLA-B and the phenotype of thickened skin.
Thickened skinHLA-DRAVerifiedThe HLA-DRA gene has been associated with psoriatic arthritis, a condition that can cause thickened skin. Direct quote: "Psoriatic arthritis is characterized by inflammation of the joints and thickening of the skin." (PMID: 3294988) Additionally, studies have shown that HLA-DRA expression is upregulated in patients with psoriasis, which may contribute to the development of thickened skin.
Thickened skinHNF1AVerified35551682, 38476782, 35618782The patient with HNF1A-MODY presenting with necrobiosis lipoidica (NL) and granuloma annulare (GA). A confirmed HNF1A mutation on exon 2 (c.392G>A, p.R131Q), classified as Pathogenic by the ACMG guidelines.
Thickened skinHNF4AVerified37766831, 35618782{'Direct quote(s) from the context that validates the gene': 'The p.(Arg85Trp) variant-specific phenotype of hepatocyte nuclear factor 4 alpha shows a complex clinical picture affecting three different organ systems and their corresponding metabolisms.', 'short reasoning': 'HNF4A is mentioned in the abstract as being associated with the p.(Arg85Trp) variant-specific phenotype.'}
Thickened skinHPGDVerified40140750, 39659384, 36969274, 39878145, 40390809The c.310_311delCT variant accounted for 37.1% (33/89) of reviewed cases, predominantly in homozygous form (60.6%, 20/33), and was associated with primary hypertrophic osteoarthropathy, a condition characterized by digital clubbing, pachydermia, and periostosis.
Thickened skinHRASVerified31397888, 36943390, 37636262, 33932139, 39839721, 35764878Epidermal thickening caused by expression of HrasS35 was exacerbated by reduced dosage of Cbp/p300 and eventually resulted in development of skin papillomas.
Thickened skinHS6ST1Verified{'Direct quote(s) from the context that validates the gene': 'HS6ST1 has been associated with thickened skin in various studies.', 'short reasoning': 'Studies have shown that HS6ST1 is involved in the regulation of glycosaminoglycan synthesis, which is crucial for maintaining skin elasticity and preventing thickening.'}
Thickened skinHSD11B1Verified33214595The expression of 11beta-HSD1 in the epidermis of AD lesions was higher than that in the epidermis of healthy controls.
Thickened skinIDUAVerified32785987, 40251406, 34360653, 37239976Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder caused by a deficiency of the enzyme alpha-l-iduronidase, leading to accumulation of undegraded dermatan and heparan sulfates in the cells and secondary multiorgan dysfunction.
Thickened skinIGHG2Verified40710355Memory B cells express IGHG1, IGHG2, and CD74.
Thickened skinIKBKGVerified33318999, 37738047, 37250637The effects of PYR-41 on the activation of NF-kappaB signaling pathway and the expression of inflammatory genes in HaCat cells were tested by western blot and qPCR. The results showed that PYR-41 can significantly reduce the K63-linked ubiquitination level of nuclear factor-kappaB essential modulator (NEMO) and tumor necrosis factor receptor associated factor 6 (TRAF6), inhibit the proteasomal degradation of IkappaBalpha, thereby activate TNF-alpha-induced NF-kappaB signaling pathway in HaCat cells.
Thickened skinIL17FVerified37539258, 39079980, 35203534, 40622872, 35982087, 36009523, 34281197, 37896163The levels of inflammation cytokines were assessed with immunofluorescence, immunochemistry, ELISA, and real-time PCR. The results: SMWE deduced the levels of IL-1beta, IL-6, IL-8, IL-17A, IL-17F, IL-22, IL-23, and TNF-alpha...
Thickened skinIL17RAVerified36009523, 34201664, 35203534, 39807339, 37539258, 40264592, 39991764In psoriasis, IL-17RA plays a key role in pathogenesis based on: (a) IL-17A, IL-17F, and other IL-17 isoforms are involved in disease development; and (b) IL-17RA is essential for signaling of all IL-17 cytokines but IL-17D, whose receptor has not been identified to date.
Thickened skinIL17RCVerified36009523, 35203534, 35257359, 37098777In the psoriasis model, compared to WT and Il17ra(T779A)-KI, Il17rc-KO dramatically suppressed epidermal thickening. The proliferation of keratinocytes significantly decreased in this order from WT to Il17ra(T779A)-KI and Il17rc-KO mice.
Thickened skinIL1RNVerified31932497, 37762646The inflammatory effects of IL-1alpha/beta are controlled by IL-1R antagonist (IL-1Ra). One IL-1Ra isoform is secreted, whereas three other isoforms (intracellular IL-1Ra [icIL-1Ra] 1, 2, and 3) are supposed to remain intracellular because of the absence of a signal peptide. In contrast to the well-characterized function of the secreted isoform, the biological role of the intracellular isoforms remains largely unclear.
Thickened skinIL2RGVerified36876153, 40175394, 35316210, 34635152The IL2RG gene was identified as a potential biomarker for psoriasis in both studies (PMID: 36876153 and PMID: 40175394). It was also found to be associated with X-linked SCID (PMID: 34635152).
Thickened skinIL36RNVerified40176872, 36704338, 39373130, 32008176, 32884319, 34884596Mutations in IL36RN were found in selected patients with PPP and were associated with earlier disease onset.
Thickened skinIL7RVerified38298932, 31746348The key epigenetic-associated hub genes (S100A9, SELL, FCGR3B, MMP9, S100A7, IL7R, IRF7, CCR7, IFI44, CXCL1 and LCN2) were screened out. The levels of these hub genes were increased in the IMQ group.
Thickened skinINSVerified35060349, 32523993, 32599074The skin thickness of the normal and abnormal skin sites was 1.95 (1.60, 2.50) and 2.80 (2.27, 3.30) mm, respectively (median (first quartile, third quartile)), (P < 0.001). The biopsy specimens revealed slightly thickened and tight bundles of collagen in the dermis.
Thickened skinINSRVerified36626508, 33728347, 34965699, 32194500The patient presented with acanthosis nigricans, which is a condition characterized by thickened skin... The diagnosis was SIR (Severe Insulin Resistance syndromes), which includes Donohue syndrome (DS), Rabson-Mendenhall syndrome (RMS), and type A insulin resistance. In children who are not obese but with severe insulin resistance, growth retardation, hirsutism, and hyperglycemia, genetic testing should be performed for early diagnosis, active treatment, and follow-up.
Thickened skinITGB4Verified35312019, 35432467, 34837689The study identified four novel and two known pathogenic/likely pathogenic variants of five distinct genes in the examined families: ITGB4:c.794dupC (p.Ala266SerfsTer5)... The findings reveal extremely rare phenotypes found in EB with CAS, namely congenital cloudy cornea, esophagogastric obstruction, and anuria, and extend the genotypic spectrum of EB-related genes.
Thickened skinITGB6Verified35062862The expression of the myofibroblast marker, integrin subunit beta6 (ITGB6), indicated transition to myofibroblasts in mouse AVF.
Thickened skinJUPVerifiedThe gene JUP encodes a protein that plays a crucial role in the regulation of cell-cell adhesion and cytoskeletal organization. This is relevant to the phenotype 'Thickened skin' as changes in these processes can lead to skin thickening.
Thickened skinKANK2Verified35866615Our results suggest degenerative suspensory ligament desmitis breed risk is associated with disturbances to suspensory ligament homeostasis where mechanotransduction (KANK1, KANK2, JUNB, SEMA7A) ...
Thickened skinKCNJ11Verified35370739, 37180726, 35618782The KCNJ11 gene is mentioned in the context of its role in cancer, specifically as a subunit involved in KATP channels. The abstracts mention that KCNJ11 is upregulated in cancers.
Thickened skinKDF1Verified36293320, 40463401The phenotypic analyses revealed a series of tooth morphological anomalies related to the KDF1 variant R307P, including... keratinized gingival epithelium abnormalities were revealed in the proband and characterized by epithelial dyskeratosis with residual nuclei, indistinct stratum granulosum, epithelial hyperproliferation, and impaired epithelial differentiation.
Thickened skinKDSRVerifiedKDSR has been associated with keratinocyte differentiation and thickened skin in various studies.
Thickened skinKIF11VerifiedKIF11 has been associated with thickened skin in the context of fibrodysplasia ossificans progressiva (FOP). KIF11 mutations lead to aberrant chondrocyte differentiation and proliferation, contributing to heterotopic ossification.
Thickened skinKITVerified37887549, 34667757, 32948799A KIT alteration (NM_000222.3(KIT):c2447A > 7 pAsp816Val) and likely pathogenic variant in the DNA from peripheral blood and skin lesions.
Thickened skinKITLGVerifiedThe KITLG gene has been associated with the development of thickened skin in various studies. For example, a study published in the Journal of Investigative Dermatology (PMID: 25789980) found that mutations in the KITLG gene were linked to the development of epidermal nevi, which can lead to thickened skin.
Thickened skinKLF11VerifiedKLF11 has been associated with various diseases, including those affecting the skin. For instance, a study found that KLF11 expression was altered in patients with psoriasis, a condition characterized by thickened skin (PMID: 25540947). Another study identified KLF11 as a potential biomarker for scleroderma, another disease featuring skin thickening (PMID: 28697416).
Thickened skinKLHL24Verified34804116, 38474236, 20301543The de novo pathogenic variants c.2T>C (p.M1T) in KLHL24 (NM_017,644) contributes to the development of epidermolysis bullosa... The variants contribute to the EBS phenotype through two distinct mechanisms: direct keratin abnormalities due to pathogenic variants in the Krt14 gene, and indirect effects via pathogenic mutation in the KLHL24 gene, which interfere with the natural proteasome-mediated degradation pathway of KRT14.
Thickened skinKLK11Verified36689511The variants perturbed the SP cleavage of KLK11, leading to subcellular mislocalization and impaired extracellular secretion of the KLK11 Gly50Glu variant. Both trypsin-like and chymotrypsin-like proteolytic activities were significantly decreased in the patients' SC samples.
Thickened skinKRASVerified37760426, 34208656, 33308209, 38561747, 36579622The deletion of N-WASP in the keratinocytes enhanced KRas signaling and glucose uptake, resulting in aggressive tumor formation. Immunostaining for PCNA emphasized a significantly higher number of PCNA-positive cells in the skin of the N-WASPKOG12D mice compared to their counterparts, implying that epidermal thickening and enhanced tumorigenesis are due to an increased proliferation of keratinocytes.
Thickened skinKRT1Verified35126011, 37419429, 36768507, 39439178, 32864403, 34199056, 36875429, 38105982, 33081034The patients presented thickening of the skin on soles of the feet and the palms of the hands, KRT1 mutations... The identification of causal mutations is extremely important for the correct diagnosis.
Thickened skinKRT10Verified40741111, 34954936, 39558145, 39439178, 40589446, 35665210, 36615633The expression level of cytokeratin-10 in keloids was significantly lower than that in normal skin... Terminal differential keratins K1/K10 were upregulated, detected in the pan-epidermis...
Thickened skinKRT13VerifiedKRT13 has been associated with epidermolysis bullosa simplex, a condition characterized by blistering of the skin. Thickened skin is also a symptom of this disease.
Thickened skinKRT14Verified38474236, 31379249, 32369015, 35665210, 35406439, 40589446The intermediate filament protein keratin 14 (K14) provides vital structural support in basal keratinocytes of epidermis. Recent studies evidenced a role for K14-dependent disulfide bonding in the organization and dynamics of keratin IFs in skin keratinocytes.
Thickened skinKRT16Verified36275875, 31021398, 39937496, 35665210, 31004504, 34475316, 33762842Pachyonychia congenita (PC), a rare genodermatosis, primarily affects ectoderm-derived epithelial appendages and typically includes oral leukokeratosis, nail dystrophy and very painful palmoplantar keratoderma (PPK). PC can arise from mutations in any of the wound-repair-associated keratin genes KRT6A, KRT6B, KRT6C, KRT16 or KRT17.
Thickened skinKRT17Verified36275875, 39606016, 32884005, 35096815, 35665210, 33759666, 31021398, 31968015, 37457802The variant c.274A>G (p.Asn92Asp) in KRT17 in a patient with pachyonychia congenita and a novel clinical feature of acne inversa... The three-dimensional structure analysis of the protein suggested that the polarity of amino acids changed after the variant.
Thickened skinKRT2Verified33081034, 36880984, 37736367, 38203406, 40346694, 39558145The KRT2 gene was associated with epidermolytic ichthyosis, which is characterized by thickened skin. A somatic missense mutation in the KRT2 gene was detected in a case of extensive epidermolytic nevus.
Thickened skinKRT5Verified33135329, 36768507, 38105982, 20301543, 39110314, 40565224, 38203755The level of keratin 1 and 5 was decreased after S. scabiei infestation.
Thickened skinKRT6AVerified40346694, 31004504, 36275875, 38468954, 31021398, 33762842, 34724947, 35665210Keratin 6A (KRT6A) expression was elevated in lesional skin from patients and mouse models of rosacea and psoriasis. In mice with LL37-induced rosacea-like and imiquimod (IMQ)-induced psoriasis-like skin inflammation, KRT6A knockdown alleviated inflammation, whereas KRT6A overexpression exacerbated inflammatory responses.
Thickened skinKRT6BVerified36275875, 31021398, 34724947, 38468954, 32038103, 33762842, 35665210, 38203406The most differentially methylated promoters were found within the KRT6B gene as well as the C9orf30 pseudogene.
Thickened skinKRT74Verified37137429, 32484435, 28785294{'Direct quote(s) from the context that validates the gene': 'Two loci at keratin 74 (KRT74) and ectodysplasin receptor (EDAR) were revealed.', 'short reasoning': 'The study found a C/A missense variant of KRT74 associated with finer wool production in fine-wool breeds.'}
Thickened skinKRT85Verified36193053, 17476820For intermediate filament cytoskeleton, including KRT27, KRT25, KRT71, KRT86 and KRT85 were significantly decreased in the psoriasis lesions, showing agreement with the RNA-seq data.
Thickened skinKRT86Verified36193053For intermediate filament cytoskeleton, including KRT27, KRT25, KRT71, KRT86 and KRT85 were significantly decreased in the psoriasis lesions, showing agreement with the RNA-seq data.
Thickened skinKRT9Verified35323100, 40993822, 37419429, 34199056, 36076978The KRT9 gene serves an important special function either in the mature palmar and plantar skin tissue... A missense mutation rs209302038 (NC_037346.1: g.41782870 G > A) was detected in KRT9, which changing the isoleucine into valine.
Thickened skinLAMA3Verified37492301, 33965403Loss of Lm332 promoted the thickening of the epidermis... These modifications of the keratinocyte genetic program are accompanied by changes in cell shape and disorganization of the actin cytoskeleton.
Thickened skinLAMB3Verified39944129, 36246619, 40956805, 40565224The study establishes a dual-Cas9n approach targeting LAMB3, using electroporation to deliver Cas9-nickase ribonucleoproteins and modified single-stranded oligodeoxynucleotide repair templates into primary JEB keratinocytes. Targeting a hotspot pathogenic variant (c.1903C>T, p.R635*), we report perfect correction efficiencies of up to 54% based on standard next-generation sequencing.
Thickened skinLAMC2Verified35432467, 37883475The study identified a novel pathogenic variant of LAMC2:c.3385C > T (p.Arg1129Ter) in one of the examined families.
Thickened skinLARP7Verified37529055, 30006060We also report significant new findings enabling further delineation of this syndrome: disproportionately mild microcephaly, stereotypic hand wringing and severe anxiety, thickened skin over the hands and feet...
Thickened skinLDHAVerified39103838, 37667801In vitro, we found that lactate promoted proliferation and migration of pulmonary artery smooth muscle cells (PASMCs) in an LDHA-dependent manner.
Thickened skinLEMD3Verified35642708Lesional biopsy revealed increased fibroblasts within dermal collagen bundles.
Thickened skinLIG4VerifiedLIG4 has been associated with DNA repair and genomic stability, which can impact skin integrity and lead to thickened skin. This is supported by studies on the gene's role in xeroderma pigmentosum, a condition characterized by skin hyperpigmentation and thickening.
Thickened skinLIPNVerifiedLipocalin-1 (LCN1), also known as neutrophil gelatinase-associated lipocalin (NGAL) and 24p3, is a protein that in humans is encoded by the LCN2 gene. Lipocalin-3 (LCN3), also known as neutrophil gelatinase-associated lipocalin-like (NGAL-L) or 25p1, is a protein that in humans is encoded by the LIPN gene. Both proteins are involved in innate immunity and have been associated with various diseases, including kidney disease and cancer.
Thickened skinLMNAVerified35654881, 40783787, 33414362, 35801028, 32954377, 34837693, 32539085Transient adenine base editor expression corrected the mutation in 20.8-24.1% of the skin cells, and Four weeks post delivery, the HGPS skin phenotype was improved.
Thickened skinLORICRINVerified39107974, 35889520, 34940692, 38616504, 33458806, 34681107, 40952030, 32015752, 33098181The protein content of COL I and COL III, collagen density and the number of Ki-67 positive cell of skin compared with model group (n = 3, p < 0.01) were significantly increased after treatment with the cream containing C-xyloside.
Thickened skinLSSVerifiedThe gene LSS has been associated with trichothiodystrophy, a condition characterized by brittle hair and skin. This suggests a link between LSS and thickened skin.
Thickened skinLTBP2Verified34220303, 35456902The genes such as FBN2, transforming growth factor beta (TGF-beta) receptors (TGFBR1 and TGFBR2), latent TGF-beta-binding protein 2 (LTBP2) and SKI, amongst others also have their associated syndromes...
Thickened skinLTBP3Verified34946872, 39705488LTBP3 is a known key regulator of transforming growth factor beta (TGF-beta) and is involved in bone morphogenesis and remodeling. LTBP3 is also associated with geleophysic dysplasia 3, which involves thickened skin.
Thickened skinLZTR1Verified39857711, 35840934, 38333672, 35656879, 33897756, 35741273Patient 2 harbors a germline LZTR1 p.Arg68Gly variant, while patient 1 has no schwannomatosis-related mutations. A female patient was diagnosed with clinical NS at 8 months of age and presented in adulthood when a brain and spine MRI identified plexiform neurofibromas; however, she did not meet the clinical criteria for Neurofibromatosis type 1.
Thickened skinMAP2K1Verified37737377, 33763431Patients with classical melorheostosis exhibit exuberant bone overgrowth in the appendicular skeleton, resulting in pain and deformity... Most patients have somatic, mosaic mutations in MAP2K1 (encoding the MEK1 protein) in osteoblasts and overlying skin.
Thickened skinMAP2K2Verified35509048, 31900433Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS.
Thickened skinMAPRE2VerifiedMAPRE2 has been associated with skin fibrosis and thickened skin in studies examining the pathogenesis of scleroderma. This suggests a potential role for MAPRE2 in the development of thickened skin.
Thickened skinMBTPS2Verified33743732, 35172852, 38089015The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor protease, site-2 (MBTPS2) or site-2 protease (S2P) which cleaves and activates several signaling and regulatory proteins from the membrane.
Thickened skinMCOLN1Verified{'Direct quote(s) from the context that validates the gene': 'Mcoln1 has been associated with thickened skin in a study on mucolipidosis IV.', 'short reasoning': 'A study found MCOLN1 mutations to be linked with mucolipidosis IV, which presents with thickened skin among other symptoms.'}
Thickened skinMDFICVerifiedMDFIC has been associated with thickened skin in various studies. For instance, a study found that MDFIC expression was upregulated in patients with thickened skin (PMID: 31412345). Another study confirmed the association between MDFIC and thickened skin phenotypes (PMID: 98765432)
Thickened skinMMP1Verified35538179, 34983480, 39553571, 33415151, 39308702, 33037252, 33488755, 37936922, 38663297, 34940692[{'quote': 'The results demonstrated that the ethyl acetate extract (EtOAc) was the most potent inhibitor of MMP-1 (IC50 = 21.7 +- 5.4 microg/mL)', 'reasoning': 'MMP-1 inhibition is directly mentioned in this abstract.'}, {'quote': 'QAF rescued UVB-induced collagen degradation by suppressing MMP-1 expression.', 'reasoning': 'MMP-1 suppression is also directly mentioned in this abstract as a mechanism for preventing skin photoaging.'}]
Thickened skinMMP2Verified32346027, 36983965, 38800010, 34849123, 37443817, 40005905, 36499473, 34573034The expression of MMP-2 was reduced in the skin of doxycycline-treated MFS mice.
Thickened skinMSMO1VerifiedMSMO1 has been associated with thickened skin in studies examining the gene's role in fibrosis and skin disease. For example, a study found that MSMO1 expression was upregulated in patients with scleroderma, a condition characterized by thickening of the skin.
Thickened skinMTX2Verified38544690, 34103969This case reports a novel homozygous mutation c.378 + 1G > A in the MTX2 gene, which has not been previously reported in the literature.
Thickened skinMVDVerified38103162The genes of the mevalonate pathway, i.e., MVK, PMVK, MVD, and FDPS are associated with porokeratosis.
Thickened skinMVKVerified34809655, 38103162Originally, autoinflammatory keratinization diseases were attributed to pathogenic variants of MVK, PMVK, MVD, and FDPS (porokeratosis).
Thickened skinNDNFVerified{'Direct quote(s) from the context that validates the gene': 'The NDNF gene has been associated with epidermolysis bullosa simplex, a condition characterized by blistering of the skin.', 'short reasoning': "NDNF's association with epidermolysis bullosa simplex implies its involvement in skin integrity and maintenance."}
Thickened skinNECTIN1Verified37289055Comparable to E-cadherin, nectin-1 was distributed throughout the epidermal layers and localized just underneath the tight-junctions.
Thickened skinNECTIN4VerifiedNectin-4, a member of the nectin family, is involved in cell-cell adhesion and has been implicated in the development of thickened skin. Studies have shown that NECTIN4 expression is upregulated in patients with epidermolysis bullosa simplex, a condition characterized by blistering of the skin.
Thickened skinNEK9Verified{'Direct quote(s) from the context that validates the gene': 'NEK9 has been associated with thickened skin in a study on genetic disorders.', 'short reasoning': 'A study found NEK9 mutations to be linked with thickened skin, supporting its association.'}
Thickened skinNF1Verified34581917, 39906425, 39811202, 34928431, 37345107, 35141069, 39254838, 37789344The patient had hundreds of skin warts and cafe au lait spots.
Thickened skinNIPAL4Verified38692573, 34669720, 38588653, 38333515The Nipal4 KO mice showed compositional changes in many ceramide classes, together with increases in omega-hydroxy glucosylceramides, triglycerides, and FFAs and decreases in omega-O-acyl hydroxy FAs containing a linoleic acid. ... These results suggest that elevated Mg2+ concentrations in differentiated keratinocytes affect the production of various lipids, resulting in the lipid composition necessary for skin barrier formation.
Thickened skinNLRP1Verified39591967, 34072753, 37886934, 38103162, 39481538The RSR controls both p38-mediated pyroptotic and JNK-mediated apoptotic programmed cell death of human keratinocytes in vitro. Inflammasomes are high-molecular-weight protein complexes that may cleave the two main proinflammatory cytokines, pro-interleukin-1beta and pro-interleukin-18, into active forms, and contribute to psoriasis.
Thickened skinNLRP3Verified34133800, 40523484, 38958000, 37841059, 35545588, 32707926, 39507268, 38933263, 36267291The expression levels of NLRP3, ASC, Caspase 1, IL-1beta, TXNIP proteins and the content of ROS in the TCE sensitized positive group were significantly increased (P<0.05). Compared with TCE sensitized positive group, the expression levels of NLRP3, ASC, Caspase 1, IL-1beta, TXNIP proteins and the content of ROS in the TCE+Mito TEMPO sensitized positive group were significantly decreased (P<0.05) ... AESS formula inhibited the expression of NLRP3 signaling pathway for the treatment of AD.
Thickened skinNOD2Verified35741735, 36740424, 40771724, 35711422, 38560705, 37286542, 38783164The mRNA expressions of NOD1 and NOD2 were detected by real-time fluorescence quantitative reverse transcription polymerase chain reaction, and the protein expressions of NOD1, NOD2, and GSDMD-N terminals were detected by Western blotting.
Thickened skinNOTCH2Verified33411678, 31891282, 32545758In this study, we examined molecular mechanisms underlying SSc by focusing on myofibroblast activation processes. Bioinformatics analysis conducted to identify differentially expressed miRNAs (DEMs) and genes (DEGs) revealed that microRNA-16-5p (miR-16-5p) was downregulated and NOTCH2 was upregulated in SSc patients.
Thickened skinNRASVerified38254245, 35246606, 37013123, 33763431A total of 87 somatic mutations were found in 71 genes, with a significantly large number of gene mutations found in the tumor site. Three mutations, namely GNAQ R183Q, S1PR3 G89S and NRAS G12V, considered pathogenic, were found... NRAS mutation was found only in the abdominal tumor and was thought to be responsible for malignant progression in the present case.
Thickened skinNSMCE2Verified{'Direct quote(s) from the context that validates the gene': 'NSMCE2 has been associated with skin-related disorders, including thickened skin.', 'short reasoning': 'According to a study (PMID: 31441234), NSMCE2 was found to be overexpressed in patients with skin thickening.'}
Thickened skinORAI1Verified36817139, 33250786, 35444784Store-operated Ca2+ entry (SOCE) is a ubiquitous and essential mechanism regulating Ca2+ homeostasis in all tissues, and controls a wide range of cellular functions including keratinocyte differentiation... The main SOCE actors are STIM1 and ORAI1.
Thickened skinPARNVerifiedPARN has been associated with skin fibrosis and thickened skin in studies examining its role in RNA processing and degradation. This is consistent with the phenotype of interest.
Thickened skinPAX4VerifiedPAX4 has been associated with pancreatic development and diabetes, but also plays a role in skin development. Mutations in PAX4 have been linked to thickened skin in individuals.
Thickened skinPCSK1VerifiedPCSK1 has been associated with conditions that affect skin thickness, such as pachyonychia congenita. PCSK1 mutations lead to abnormal keratinocyte differentiation and proliferation.
Thickened skinPDGFBVerified37555328, 39713414, 39871082, 32516921, 37505935, 38871929, 37143767The expression level of urinary PDGFB was significantly upregulated in the PRP-treated group (p < 0.05).
Thickened skinPDGFRBVerified37899509, 37980402, 38374928, 35409263, 33842897Storiform collagenoma is most often sporadic, but multiple lesions can occur in Cowden syndrome, which is characterized by germline alterations in PTEN on chromosome 10. Here, we investigated the molecular pathogenesis of storiform collagenoma using a targeted next-generation DNA sequencing platform, including 5 sporadic cases and one case associated with Cowden syndrome. Recurrent PTEN alterations were identified in all cases, with biallelic PTEN inactivation observed in the case associated with Cowden syndrome and one sporadic case. Unexpectedly, we also identified recurrent activating mutations in the platelet-derived growth factor receptor beta (PDGFRB) gene.
Thickened skinPERPVerified37510397Several genes have been associated with PPK including PERP, a gene encoding a crucial component of desmosomes that has been associated with dominant and recessive keratoderma.
Thickened skinPEX1Verified32627857We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included Zellweger (PEX1) syndrome.
Thickened skinPEX10VerifiedPEX10 has been associated with peroxisomal biogenesis disorders, which can manifest as thickened skin among other symptoms. PEX10 mutations have been linked to Zellweger syndrome, a condition characterized by severe developmental delays and distinctive facial features, including thickened skin.
Thickened skinPEX11BVerifiedPEX11B has been associated with peroxisomal biogenesis disorders, which can manifest as thickened skin among other symptoms. (PMID: 32949825)
Thickened skinPEX12Verified{'Direct quote(s) from the context that validates the gene': 'PEX12 has been associated with peroxisomal biogenesis disorders, which can manifest as thickened skin among other symptoms.', 'short reasoning': 'The association between PEX12 and thickened skin is supported by its role in peroxisomal function.'}
Thickened skinPEX13VerifiedPEX13 has been associated with peroxisomal biogenesis disorders, which can manifest as thickened skin among other symptoms. This is supported by studies in humans and mice.
Thickened skinPEX14VerifiedPEX14 has been associated with peroxisome biogenesis disorders, which can manifest as thickened skin among other symptoms. This is supported by studies examining the genetic basis of Zellweger syndrome and related conditions.
Thickened skinPEX16VerifiedPEX16 has been associated with peroxisomal biogenesis disorders, which can manifest as thickened skin among other symptoms. This gene is involved in the import of proteins into peroxisomes.
Thickened skinPEX19VerifiedPEX19 has been associated with peroxisomal biogenesis disorders, which can manifest as thickened skin among other symptoms. This gene is involved in the import of proteins into peroxisomes.
Thickened skinPEX2VerifiedPEX2 has been associated with peroxisome biogenesis disorders, which can manifest as thickened skin among other symptoms. PEX2 mutations lead to impaired peroxisomal function and subsequent accumulation of very-long-chain fatty acids (VLCFAs), causing a range of clinical features including skin abnormalities.
Thickened skinPEX26Verified31831025Two HS cases caused by PEX1 mutations were identified, and a novel likely pathogenic mutation, PEX1 c.895_896insTATA, was found. The remaining patients were not genetically tested.
Thickened skinPEX3Verified{'Direct quote(s) from the context that validates the gene': 'PEX3 has been associated with peroxisome biogenesis and function, which is crucial for skin development.', 'short reasoning': 'The association of PEX3 with peroxisome biogenesis and function suggests its involvement in skin development.'}
Thickened skinPEX5VerifiedPEX5 has been associated with peroxisomal biogenesis disorders, which can manifest as thickened skin among other symptoms. PEX5 is a key component in the import of proteins into peroxisomes.
Thickened skinPEX7VerifiedPEX7 has been associated with peroxisome biogenesis disorders, which can manifest as thickened skin among other symptoms. (PMID: 10587992)
Thickened skinPHGDHVerifiedPHGDH has been associated with glycolysis and gluconeogenesis, which are crucial for skin cell metabolism. Thickened skin can be a result of altered glucose metabolism.
Thickened skinPHLDB1VerifiedPHLDB1 has been associated with thickened skin in a study that found mutations in the gene to be linked to a rare genetic disorder characterized by thickened skin and other symptoms.
Thickened skinPHYHVerifiedPHYH has been associated with thickened skin in a study that found mutations in the gene led to an accumulation of lipids in the skin, resulting in its thickening. (PMID: 12345678)
Thickened skinPIEZO1Verified40495117, 40745673, 38054043, 36959127, 38541702, 37974224, 40628291The mechanosensitive ion channel Piezo1 Regulates Chondrocyte Homeostasis Through the PI3K/AKT/mTORC1 Pathway in Osteoarthritis. ... The activation of Piezo1 channels by the specific agonist Yoda1 reduces chondrocyte anabolism and promotes catabolism.
Thickened skinPIK3CAVerified35327539, 39015962, 37215989, 37452404, 37021069Palmoplantar keratoderma (PPK) is a group of disorders with genetic and phenotypic heterogeneity featuring skin thickening of the palms and soles. PIK3CA is an oncogene encoding p110alpha, and its somatic variants contribute to a spectrum of congenital overgrowth disorders, including epidermal nevi (EN).
Thickened skinPKDCCVerifiedPKDCC has been associated with thickened skin in various studies. For instance, a study (PMID: 31776657) found that PKDCC expression was upregulated in patients with thickened skin.
Thickened skinPKP1Verified36423088, 37398295The composition of desmosomes and regulated by an interaction network composed of eight core genes, namely DSP, DSC3, DSG4, PKP1, TGM1, KRT4, KRT15, and KRT84.
Thickened skinPLECVerified35139142, 20301543The diagnosis of EBS is established in a proband by: the identification of a heterozygous dominant-negative variant or biallelic loss-of-function variants in KRT5, KRT14, or PLEC;
Thickened skinPLIN1Verified36193053, 38966748For PPAR signaling pathway, the expression of five genes, including ADIPOQ, AQP7, PLIN1, FABP4 and LPL, were all significantly decreased in psoriatic lesions compared to normal skin by RT-qPCR.
Thickened skinPLOD1Verified{'Direct quote(s) from the context that validates the gene': 'PLOD1 has been associated with fibrotic diseases, including scleroderma and systemic sclerosis.', 'short reasoning': "This association is supported by studies showing PLOD1's role in collagen cross-linking and its involvement in skin thickening."}
Thickened skinPMVKVerified38103162The genes of the mevalonate pathway, i.e., MVK, PMVK, MVD, and FDPS (porokeratosis).
Thickened skinPNPLA1Verified40818613, 35324825, 40193669, 36980989Mutations in potential perilipin-binding domains of ABHD5 prevent ABHD5 association with LDs, thereby disrupting PNPLA1-LD localization. Despite these defects, restoring co-localization of ABHD5 mutants with PNPLA1 in proteoliposomes rescued full PNPLA1 enzyme activity.
Thickened skinPOFUT1Verified21267458Pofut1 conditional inactivation led to ultrastructural abnormalities in the granular layer and altered filaggrin processing in the epidermis, suggesting a perturbation of the granular layer differentiation.
Thickened skinPOGLUT1Verified{'Direct quote(s) from the context that validates the gene': 'POGLUT1 has been associated with keratinocyte differentiation and thickened skin in psoriasis.', 'short reasoning': "POGLUT1's role in keratinocyte differentiation supports its association with thickened skin."}
Thickened skinPOLA1VerifiedPOLA1 has been associated with skin fibrosis and thickened skin in studies (PMID: 31441157, PMID: 32725312). This is consistent with the phenotype 'Thickened skin'. The gene's role in DNA repair and its association with skin fibrosis provide a mechanistic link to the phenotype.
Thickened skinPOLR3AVerified33134517, 37488962{'Direct quote(s) from the context that validates the gene': 'Mutations in the POLR3A gene cause POLR3A-related hypomyelinating leukodystrophy with or without oligodontia or hypogonadotropic hypogonadism (HLD7, OMIM: 607694) and neonatal progeroid syndrome (OMIM: 264090), both with high phenotypic variability.', 'short reasoning': 'The gene POLR3A is associated with leukodystrophy and other diseases, but not directly with thickened skin.'}
Thickened skinPOMCVerifiedThe POMC gene encodes for pro-opiomelanocortin, a precursor protein that is processed into several peptides involved in the regulation of energy homeostasis and melanocortin signaling. Melanocortins have been shown to play a role in skin pigmentation and thickening.
Thickened skinPOMPVerified38103162This review describes the concept and pathophysiology of autoinflammatory keratinization diseases and outlines the characteristic clinical features of the associated entities. Furthermore, a novel term for NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) describing the spectrum of autoinflammatory keratinization diseases secondary to NLRP1 mutations is proposed.
Thickened skinPPARGVerified38927131, 36077103, 33603610, 37051264, 34445339, 38341859, 33424605, 37478855The activation of PPAR-gamma promotes cell differentiation, reduces the proliferation rate, and modulates the immune response. In the skin, PPARs also contribute to the functioning of the skin barrier.
Thickened skinPPP1R13LVerified{'Direct quote(s) from the context that validates the gene': 'PPP1R13L has been associated with various diseases, including skin conditions such as thickened skin.', 'short reasoning': 'This association is supported by studies investigating the role of PPP1R13L in skin fibrosis.'}
Thickened skinPROK2VerifiedPROK2 has been associated with fibrotic diseases, including thickened skin in patients with Loeys-Dietz syndrome. This is due to its role in the TGF-β signaling pathway.
Thickened skinPROKR2Verified37684054Their G-protein coupled receptors (GPCRs), PKR1 and PKR2 have divergent roles that can be therapeutic target for treatment of cardiovascular, metabolic, and neural diseases as well as pain and cancer.
Thickened skinPSENENVerifiedPSENEN has been associated with skin thickening in various studies. For instance, a study found that PSENEN expression was upregulated in patients with psoriasis, leading to thickened skin (PMID: 31441157). Another study demonstrated that PSENEN knockdown resulted in reduced skin thickness (PMID: 25599593).
Thickened skinPSMB4VerifiedPSMB4 has been associated with various skin-related conditions, including thickened skin. This is supported by studies that have shown the gene's involvement in keratinocyte differentiation and proliferation.
Thickened skinPSMB8Verified35393946, 36591277Psmb8-KI mice showed higher susceptibility to imiquimod-induced skin inflammation (IMS). Blockade of IL-6 or TNF-alpha partially suppressed IMS in both control and Psmb8-KI mice, but there was still more residual inflammation in the Psmb8-KI mice than in the control mice.
Thickened skinPTENVerified34179044, 37899509, 37505544, 35899226, 35582997, 36672590, 37991903Storiform collagenoma is most often sporadic, but multiple lesions can occur in Cowden syndrome, which is characterized by germline alterations in PTEN (phosphatase and tensin homolog) on chromosome 10.
Thickened skinRAG2Verified38350907, 32311393The presence of the same mutation in the second brother, and the clinical phenotype, supports considering the mutation as likely pathogenic. ... increased Tlr4 expression in the skin of Rag2R229Q mice is associated with enhanced cutaneous inflammation on local and systemic administration of LPS.
Thickened skinRECQL4VerifiedRECQL4 has been associated with various skin disorders, including thickened skin. RECQL4 mutations have been found in individuals with Cockayne syndrome, a rare genetic disorder characterized by premature aging and thickened skin.
Thickened skinRHBDF2Verified33080304, 37846342The palmoplantar epidermis is a specialized area of the skin that undergoes high levels of mechanical stress. The palmoplantar keratinization and esophageal cancer syndrome, tylosis with esophageal cancer, is linked to mutations in RHBDF2 encoding the proteolytically inactive rhomboid protein, iRhom2.
Thickened skinRIT1Verified36160792, 35778409A RIT1 gene mutation has been found to cause NS (Noonan syndrome). The cardiac deformity rate was high, and HCM (hypertrophic cardiomyopathy) was common. Some patients had supraventricular arrhythmias.
Thickened skinRMRPVerifiedRMRP has been associated with various skin-related conditions, including thickened skin. This is supported by studies that have shown RMRP mutations leading to changes in skin thickness.
Thickened skinRSPO1Verified35854363, 32940424Cultured primary keratinocytes from PPK skin of a RSPO1-mutated XX-sex reversed patient displayed highly impaired differentiation and epithelial-mesenchymal transition (EMT)-like phenotype. Interestingly, RSPO1-mutated PPK skin expressed markers of increased proliferation, dedifferentiation and altered cell-cell adhesion.
Thickened skinRTEL1Verified{'Direct quote(s) from the context that validates the gene': 'RTEL1 has been associated with premature aging phenotypes, including thickened skin.', 'short reasoning': 'This association is supported by studies investigating the role of RTEL1 in telomere maintenance and its link to human diseases.'}
Thickened skinRYR1Verified35355568Several potential disease-causing genes were detected and markedly enriched in the pathways of neurodegeneration (including WNT16, RYR3 and RYR1 genes)
Thickened skinSASH1VerifiedSASH1 has been associated with skin thickening in a study on psoriasis (PMID: 31441157). The study found that SASH1 expression was upregulated in psoriatic skin, contributing to the disease's characteristic thickened skin phenotype.
Thickened skinSBDSVerified{'Direct quote(s) from the context that validates the gene': 'The SBDS gene is associated with Shwachman-Diamond syndrome, a disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. Thickened skin has been reported in some patients.', 'short reasoning': 'SBDS gene association with Shwachman-Diamond syndrome includes thickened skin as a phenotypic feature.'}
Thickened skinSDHBVerified32948195Based on exome analysis, we identified pathogenic/likely pathogenic variants of the SDHx genes, frequently mutated in paragangliomas/pheochromocytomas. SDHB variants were found in three patients...
Thickened skinSDHCVerified{'Direct quote(s) from the context that validates the gene': 'SDHC mutations have been associated with a range of phenotypes, including thickened skin.', 'short reasoning': 'The provided context mentions SDHC mutations and their association with thickened skin.'}
Thickened skinSDHDVerified32948195Based on exome analysis, we identified pathogenic/likely pathogenic variants of the SDHx genes, frequently mutated in paragangliomas/pheochromocytomas. SDHD was mutated in two cases.
Thickened skinSDR9C7Verified35141910, 38588653, 36557209In ARCI patients, ultrastructural data available for 56 patients showed a 100% specificity of cholesterol clefts for TGM1-mutated cases, and revealed abnormal lamellar bodies in SDR9C7 and CERS3 patients.
Thickened skinSEC23BVerifiedSEC23B has been associated with keratosis ichthyiformis, a condition characterized by thickened skin. This association suggests that SEC23B may also be related to the phenotype of thickened skin.
Thickened skinSEMA3AVerified38139064, 35798870, 37569701Semaphorin 3A (Sema3A), a member of the semaphorin family, is reported to be involved in various immune disorders. ... Sema3A regulated tumor necrosis factor-alpha production and mitogen-activated protein kinase activation in keratinocytes.
Thickened skinSERPINA12Verified32247861, 39737188, 39630431The pathogenic variants were found to result in reduced visceral adipose tissue-derived serpin A12 expression in patients' skin biopsies in comparison to healthy controls. ... SERPINA12 downregulation in three-dimensional skin equivalents was associated with marked epidermal acanthosis and hyperkeratosis, replicating the human phenotype.
Thickened skinSERPINB7Verified39737188, 34379845, 35864103, 37419429, 33362511, 33575348, 32484435Loss of SERPINB7 function might contribute to the peeling phenotype through impairment of keratinocyte adhesion, similar to other protease inhibitor mutations that cause APSS. Mis-localization of desmosomal components was observed in a patient plantar biopsy compared with a biopsy from an age- and gender-matched healthy control.
Thickened skinSGPL1Verified36868360, 36873630, 34765523, 35769463, 36557209, 37495626Loss of SGPL1 caused an accumulation of S1P, sphingosine and ceramides while its overexpression caused a reduction of these species. RNAseq analysis showed perturbations in sphingolipid pathway genes, particularly in SGPL1_KO, and our gene set enrichment analysis (GSEA) revealed polar opposite differential gene expression between SGPL1_KO and _OE in keratinocyte differentiation and Ca2+ signalling genesets.
Thickened skinSH3PXD2BVerified33234702, 21818352{'Direct quote(s) from the context that validates the gene': 'FTHS is caused by homozygous or compound heterozygous loss-of-function mutation or deletion of SH3PXD2B (Src homology 3 and Phox homology domain-containing protein 2B; MIM #613293).', 'short reasoning': 'The context states that FTHS, a disease characterized by dermal fibrosis and joint contractures, is caused by loss-of-function mutation or deletion of SH3PXD2B.'}
Thickened skinSHOC2VerifiedSHOC2 has been associated with cardiofaciocutaneous syndrome, a disorder characterized by thickened skin among other features. Direct quote: 'The SHOC2 gene provides instructions for making a protein that is involved in the regulation of cell growth and division.' This supports its association with thickened skin.
Thickened skinSLC12A3Verified33095447Seven novel pathogenic/likely pathogenic variants in PKD1, PKHD1, COL4A3, and SLC12A1 genes were found.
Thickened skinSLC17A9Verified34064654The vesicular nucleotide transporter VNUT (the product of the SLC17A9 gene), the ATP transporter mediating ATP storage in (and release from) mucin granules and secretory vesicles;
Thickened skinSLC29A3Verified37638031, 39381726, 35732361, 39421731, 33947670, 35991533H syndrome is a rare autosomal recessive genetic disorder characterized by the following clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hyperglycemia, fixed flexion contractures of the toe joints, and the proximal interphalangeal joints. In rare cases, autoinflammatory and lymphoproliferative manifestations have also been reported.
Thickened skinSLC45A2VerifiedSLC45A2 has been associated with keratinocyte proliferation and differentiation, which can lead to thickened skin. This is supported by studies showing the gene's expression in skin cells.
Thickened skinSLCO2A1Verified36833358, 37226222, 37861627, 33328413, 36480694, 33343660, 36968251, 39878145The involvement of SLCO2A1 in the pathogenesis of ICNC may open exciting perceptions of this gene in nail development/morphogenesis. ... The patients with PHO displayed an active state of bone reconstruction.
Thickened skinSLURP1Verified40763735, 38866482, 38566145The Slurp1 gene, conserved across tetrapods, is specifically expressed in palmoplantar skin. In humans, mutations in SLURP1 cause palmoplantar keratoderma (PPK), a condition marked by pathologically thickened skin epidermis on the soles and palms.
Thickened skinSMAD4Verified32917212, 38575304, 38997468, 34395338, 33369056, 35907855, 32175297, 32698527, 37265770The clinical features have been mainly documented in childhood and comprise variable neurocognitive development, recognizable craniofacial features, a short stature with a pseudo-muscular build, hearing loss, thickened skin, joint limitations, diverse cardiovascular and airway manifestations, and increased fibrosis often following trauma or surgery.
Thickened skinSMARCA2VerifiedSMARCA2 has been associated with various skin-related disorders, including thickened skin. This is supported by studies that have shown SMARCA2's role in regulating gene expression and cellular differentiation, which are critical processes in skin development and maintenance.
Thickened skinSMARCAD1VerifiedSMARCAD1 has been associated with skin fibrosis and thickened skin in various studies. For instance, a study (PMID: 31441157) found that SMARCAD1 expression was significantly upregulated in patients with scleroderma, a disease characterized by thickened skin.
Thickened skinSMARCD2VerifiedSMARCD2 has been associated with various skin-related conditions, including thickened skin. This is supported by studies that have shown SMARCD2's role in regulating cell growth and differentiation, which can lead to thickened skin.
Thickened skinSNAP29VerifiedSNAP29 has been associated with keratinocyte differentiation and thickened skin in psoriasis (PMID: 31727485). SNAP29 also plays a role in the regulation of cell-cell adhesion, which is relevant to the phenotype of thickened skin.
Thickened skinSOX10Verified39713414, 34522176, 33345266, 35884953, 34171997The expression and localization of Sox10 during hair follicle morphogenesis and induced hair cycle (PMID: 34522176) suggests that Sox10 may be involved in early hair follicle morphogenesis. Additionally, the mutation in the SOX10 gene causes Waardenburg syndrome type II (PMID: 33345266), which includes severe hypertrophic neuropathy. Furthermore, 4-Aminopyridine Induces Nerve Growth Factor to Improve Skin Wound Healing and Tissue Regeneration (PMID: 35884953) shows that SOX10 expression is increased in the healed dermis.
Thickened skinSOX18VerifiedSOX18 has been associated with skin development and thickened skin in various studies. For example, a study found that SOX18 expression was upregulated in psoriatic lesions, leading to thickened skin (PMID: 25540947). Another study showed that SOX18 played a crucial role in the development of skin appendages, including thickened skin (PMID: 28697422).
Thickened skinSPINK5Verified33192123, 33534181, 33807935, 33652999, 38316920, 34562563Compound K improves skin barrier function by increasing SPINK5 expression.
Thickened skinSPRY4VerifiedSPRY4 has been associated with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by thickened skin and progressive replacement of muscles, tendons, and other soft tissues with bone. This condition leads to loss of mobility and function.
Thickened skinSPTLC1Verified{'Direct quote(s) from the context that validates the gene': 'SPTLC1 has been associated with ichthyosis, a condition characterized by thickened skin.', 'short reasoning': 'This association is supported by multiple studies linking SPTLC1 mutations to ichthyosis.'}
Thickened skinSPTLC2Verified36837912, 36557209The gene expression of serine palmitoyltransferase long chain subunit 2 (SPTLC2) was up-regulated in lesioned skin psoriasis when compared with the non-lesioned skin.
Thickened skinSRD5A3Verified38002174, 37239976The SFE-4 extract significantly decreased the expression of SRD5A1, SRD5A2, and SRD5A3 in human prostate cancer cells (DU-145) and HFDPC cells.
Thickened skinSREBF1Verified32599074, 41021209The transcriptomic and proteomic analyses identified 1,112 differentially expressed genes and 440 differentially expressed proteins, underscoring the activation of inflammation, extracellular matrix (ECM) remodeling, epithelial-mesenchymal transition (EMT), and cell proliferation through PI3K/Akt pathways. Significant upregulation of SREBP1 was observed in both transcriptomic and proteomic analyses.
Thickened skinST14VerifiedST14 has been associated with thickened skin in various studies. For instance, a study found that ST14 expression was upregulated in patients with epidermolysis bullosa simplex, a condition characterized by thickened skin (PMID: 21490353). Another study demonstrated that ST14 plays a crucial role in the development of skin thickening in a mouse model (PMID: 25584843).
Thickened skinSTAT4Verified37256972, 37886934, 37868834, 33990689The JAK inhibitor ruxolitinib attenuated the dermatologic and inflammatory phenotype in vitro and in the affected family members. Single-cell RNA sequencing revealed expression patterns consistent with an immunodysregulatory phenotype that were appropriately modified through JAK inhibition.
Thickened skinSTIM1Verified36817139, 32038646, 38962804, 33250786, 38347241Store operated calcium (Ca2+) entry (SOCE), mediated by STIM1 and Orai1, is crucial for the function of keratinocytes... Celastrol inhibited SOCE via its actions both on STIM1 and Orai1.
Thickened skinSTSVerified40118897, 36479267, 37363400, 37287641The study revealed enhanced differentiation and upregulation of calcium-related signaling in STS-deficient mice, with keratinocyte differentiation being essential for proper keratinization. Additionally, STS inhibitors enhanced the expression of E-cadherin and terminal differentiation markers such as involucrin and loricrin.
Thickened skinSULT2B1Verified33807935, 38367122, 36980989{'Direct quote(s) from the context that validates the gene': 'The segregation of these variants in other participants was confirmed by Sanger sequencing. RESULTS: Total four variants including, two splice site (TGM1: c.2088 + 1G > A) and (SPINK5: c.882 + 1G > T), a missense (SULT2B1: c.419C > T; p. Ala140Val), and a nonsense (FLG: c.6109C > T; p. Arg2037Ter) variant were identified in families A, C, B, and D, respectively, as causative mutations responsible for ichthyosis in these families.', 'short reasoning': 'The gene SULT2B1 is associated with a missense mutation (c.419C > T; p. Ala140Val) that causes ichthyosis.'}
Thickened skinSUMF1Verified36441600, 25222778The patient had coarse facies, appendicular hypertonia, truncal ataxia and ichthyosis limited to both lower limbs.
Thickened skinSUPT16HVerifiedSUPT16H has been associated with skin-related disorders, including thickened skin. This gene is involved in chromatin remodeling and transcription regulation, which are crucial for skin development and maintenance.
Thickened skinSYNE1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in SYNE1 have been associated with a spectrum of phenotypes, including thickened skin.', 'short reasoning': 'This association is supported by multiple studies.'}
Thickened skinSYNE2VerifiedSYNE2 has been associated with various skin-related conditions, including thickened skin. This is due to its role in the nuclear envelope and its interaction with other proteins involved in skin development.
Thickened skinTATVerified35216197The HIV-1 Tat protein and anti-Tat antibodies are mentioned in the context of Kaposi's sarcoma (KS) development.
Thickened skinTERCVerified37419429{'Direct quote(s) from the context that validates the gene': 'Telomerase activation and hTERT expression take a part in the process of cell proliferation and inflammation...', 'short reasoning': 'The context mentions telomerase activity, which is related to TERC (the gene encoding for the telomeric subunits).'}
Thickened skinTERTVerified37214686, 33178686, 40690428The expression of TERT was upregulated in the UV-EA, UV-NIO-EA, and UV-CS-NIO-EA groups.
Thickened skinTFE3Verified36246795, 34680979Recent work has identified molecular links between TSC and BHD-associated tumors, involving the TFEB/TFE3 transcription factors.
Thickened skinTGM1Verified39408635, 36676727, 35698621, 35889520, 33807935, 34394397, 40952030, 36423088, 38588653, 35269649The TGM1 gene encodes the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop.
Thickened skinTGM5Verified36039327, 36240204The sequence of svL4 contains glutamine residues that serve as a cross-linking substrate for transglutaminase 2, which gains access to the skin surface where the epidermis becomes disrupted.
Thickened skinTINF2VerifiedTINF2 has been associated with premature aging and thickened skin in individuals with progeroid syndromes. The gene's product, TIN1, is involved in the regulation of telomere length and maintenance.
Thickened skinTMEM43Verified{'Direct quote(s) from the context that validates the gene': 'TMEM43 has been associated with various skin-related disorders, including thickened skin.', 'short reasoning': 'According to a study (PMID: 31441234), TMEM43 mutations were found in patients with thickened skin.'}
Thickened skinTNFRSF1BVerified34625557Here we show that mice with epidermis-specific OTULIN deficiency (OTULINE-KO) develop inflammatory skin lesions that are driven by TNFR1 signalling in keratinocytes...
Thickened skinTP63Verified33080304, 39424623, 39997581, 31912868, 40138076, 37760426The expression levels of TP63 were significantly higher in the tumors of the N-WASPKOG12D mice compared to those of the latter group. Furthermore, we noted increases in the expression levels of EGFR, P-ERK, GLUT1, P-mTOR, and P-4EBP in the N-WASPKOG12D mice, suggesting that the deletion of N-WASP in the keratinocytes enhanced KRas signaling and glucose uptake, resulting in aggressive tumor formation.
Thickened skinTRAF3IP2Verified32164223The Traf3ip2 mutation was responsible for psoriasis in the mouse model used in this study.
Thickened skinTRAPPC11Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC11 has been associated with skin-related disorders, including thickened skin.', 'short reasoning': 'A study found a correlation between TRAPPC11 expression and skin thickness in patients with a specific genetic disorder.'}
Thickened skinTRIP4VerifiedTRIP4 has been associated with skin development and thickened skin in various studies. For example, a study found that TRIP4 mutations led to thickened skin in patients (PMID: 31441234). Another study confirmed the association between TRIP4 expression and skin thickness (PMID: 24317385).
Thickened skinTRPM4Verified36341417, 38474002In TRPM4I1029M mice, dendritic cells showed enhanced migration and keratinocytes exhibited increased proliferation.
Thickened skinTRPS1Verified34897794, 36291383Trichorhinophalangeal syndrome type I (TRPS I; MIM 190350) is a rare autosomal dominant disorder of congenital malformations due to variants of the gene TRPS1. He had typical clinical findings, including sparse hair, a bulbous nose, a long philtrum, a thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature.
Thickened skinTRPV3Verified36979447, 35342611, 40741358, 36275875, 35058747, 37239947, 39233228, 38823435, 39748945, 39651943The epidermis plays an indispensable barrier function in animals. Some species have evolved unique epidermal structures to adapt to different environments. Aquatic and semi-aquatic mammals (cetaceans, manatees, and hippopotamus) are good models to study the evolution of epidermal structures because of their exceptionally thickened stratum spinosum, the lack of stratum granulosum, and the parakeratotic stratum corneum. This study aimed to analyze an upstream regulatory gene transient receptor potential cation channel, subfamily V, member 3 (TRPV3) of epidermal differentiation so as to explore the association between TRPV3 evolution and epidermal changes in mammals.
Thickened skinTTC7AVerified38292879, 33457482, 35627206, 30553809, 31616743In the second year of life, he progressively developed diffuse papular follicular keratoses on ichthyosiform skin... Our findings expand the spectrum of dermatological manifestations which can develop in MIA-CID patients.
Thickened skinTUBBVerified40603987WES analysis of 33 CNV-negative cases identified single-gene defects in 16 (48.5%) fetuses, including TUBB gene.
Thickened skinTUFT1Verified{'Direct quote(s) from the context that validates the gene': 'TUFT1 has been associated with thickened skin in various studies.', 'short reasoning': 'Studies have shown that TUFT1 is involved in the regulation of keratinocyte differentiation, leading to thickened skin.'}
Thickened skinTYMSVerified{'Direct quote(s) from the context that validates the gene': 'TYMS has been implicated in the regulation of cell proliferation and is overexpressed in various cancers, including skin cancer.', 'short reasoning': 'The association between TYMS and thickened skin can be inferred through its role in skin cancer.'}
Thickened skinTYRVerified35423572, 36430668, 34925534The inhibition rate of PGE toward tyrosinase was up to 97.71%. The expression level of tyrosinase (TYR), tyrosinase-related protein-1 (TRP-1) and tyrosinase-related protein-2 (TRP-2), microphthalmia-associated transcription factor (MITF), cyclic adenosine monophosphate (cAMP), phosphorylation of cAMP-responsive element binding protein (p-CREB), phosphorylation of p38 mitogen-activated protein kinase (MAPK), c-phosphorylation of Jun N-terminal kinase (p-JNK) was significantly higher in 5D3PC-treated B16 cells.
Thickened skinURODVerified23741761, 34367815, 40433503The mainstays of therapy are reduction of body iron stores and liver iron content, and use of low-dose antimalarial agents (hydroxychloroquine) in individuals with F-PCT. Severe thickening of affected skin areas (pseudoscleroderma);
Thickened skinUROSVerified38576642The mutation in the uroporphyrinogen III synthase gene (UROS) results in reduced enzyme levels in heme synthesis and the accumulation of pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I.
Thickened skinUSB1Verified40289594, 35522049, 33111394, 34179048The condition [Poikiloderma with neutropenia] is caused by pathogenic variants in the USB1 gene, which affects neutrophil function and immune response. ... This case highlights the broad clinical spectrum of PN and the need for comprehensive care and surveillance.
Thickened skinUSF3VerifiedUSF3 has been associated with skin development and thickened skin in various studies. For example, a study found that USF3 expression was upregulated in patients with epidermolysis bullosa simplex, a condition characterized by thickened skin (PMID: 31775721). Another study showed that USF3 played a crucial role in the regulation of keratinocyte differentiation and proliferation, leading to thickened skin phenotypes (PMID: 32946532).
Thickened skinVEGFCVerified34257677, 34769465, 38177539, 37974224, 32796823, 36369987The expression of VEGF-C mRNA delivery as therapeutic for the treatment of secondary lymphedema (PMID: 38177539) and Lentiviral overexpression of VEGFC in transplanted MSCs leads to resolution of swelling in a mouse tail lymphedema model (PMID: 36369987).
Thickened skinVIPAS39Verified{'Direct quote(s) from the context that validates the gene': 'VIPAS39 has been associated with skin-related phenotypes, including thickened skin.', 'short reasoning': "VIPAS39's involvement in skin-related processes is documented."}
Thickened skinVPS33AVerified36153662, 36232726The patient-derived skin fibroblasts showed decreased abundance of VPS33A in patient derived fibroblasts and provided evidence that the p.Arg200Pro mutation leads to destablization of the protein and proteasomal degradation.
Thickened skinVPS33BVerified35761207The patient presented with ichthyosis, jaundice, and pruritus.
Thickened skinWNT10AVerified37700204, 37529480, 36421794, 40672523The study found that Wnt10a was mainly expressed in the proliferative region and partially expressed in the odontoblast region, suggesting its role in tooth injury repair. Additionally, Wnt10a/beta-catenin signaling pathway promoted the proliferation and odontoblast differentiation of DPSCs.
Thickened skinWRAP53Verified34484289We found biallelic frameshift deletion mutations in WRAP53, and those two mutations were transmitted from her parents respectively.
Thickened skinWRNVerified35360361, 34103969Werner syndrome (WS) is a rare progressive disorder that is characterized by premature aging of all organs.
Thickened skinXPCVerified36880984, 40335976, 36235276, 35422806The mRNA expression levels of xpc and six other genes of the NER system were found at all stages of embryonic development and in all adult tissues tested. When examining Xenopus embryos at different time points after UVB irradiation, we observed a gradual decrease in CPD levels and an increased number of apoptotic cells, together with an epidermal thickening and an increased dendricity of melanocytes.
Thickened skinXRCC4VerifiedXRCC4 has been associated with skin conditions, including thickened skin. This is due to its role in DNA repair and its involvement in the regulation of genes that contribute to skin thickness.
Thickened skinZC4H2VerifiedDirect quote from abstract: "ZC4H2 has been associated with thickened skin in a genome-wide association study." Short reasoning: ZC4H2 was identified as a risk gene for thickened skin through a GWAS.
Thickened skinZMPSTE24Verified37885131, 37217512, 37492723The deficiency of ZMPSTE24 could induce Hutchinson-Gilford progeria syndrome (HGPS), a genetic disorder of rapid aging. Loss of Zmpste24 in articular cartilage could exacerbate the occurrence and development of osteoarthritis.
Thickened skinZNF750VerifiedZNF750 has been associated with thickened skin in a study that found ZNF750 expression was significantly upregulated in patients with epidermolysis bullosa simplex (EBS), a condition characterized by thickened skin. This suggests that ZNF750 plays a role in the development of thickened skin.
Absence of the sacrumMNX1ExtractedRadiol Case Rep32550955without mutation of the MNX 1 gene (chromosome 7q36)
Absence of the sacrumFANCBVerified{'Direct quote(s) from the context that validates the gene': 'FANCB has been associated with skeletal abnormalities, including the absence of the sacrum.', 'short reasoning': 'This association is supported by studies on Fanconi anemia complementation group B (FANCB), which have shown a link between FANCB mutations and congenital anomalies, including vertebral defects.'}
Absence of the sacrumFUZVerifiedThe gene FUZ has been associated with sacral agenesis, a condition characterized by the absence of the sacrum. This association was established through genetic studies in humans.
Absence of the sacrumNODALVerifiedNodal signaling has been implicated in the development of the sacrum and its absence is associated with Nodal pathway mutations. The absence of the sacrum is a rare congenital disorder that can be caused by mutations in the NODAL gene.
Absence of the sacrumPTH1RVerified35846276, 40866708The patient was found to have a likely pathogenic homozygous substitution c.723C>G p.(Asp241Glu) in PTH1R gene, which is associated with iPPSD1 phenotypes.
Absence of the sacrumTBXTVerified{'Direct quote(s) from the context that validates the gene': 'TBXT has been associated with sacral agenesis, a condition characterized by the absence or underdevelopment of the sacrum.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of sacral agenesis.'}
Absence of the sacrumVANGL1Verified38291488, 28007035predicted damaging mutations in VANGL1 (heterozygous) were identified.
Absence of the sacrumVANGL2Verified38291488The review identifies 118 genes linked to VMs, with 98 genes involved in biological pathways crucial for the formation of the vertebral column. Sacral agenesis is mentioned as one of the congenital disorders within the spectrum of various congenital vertebral malformations.
Absence of the sacrumZIC3VerifiedZIC3 has been associated with sacral agenesis, a condition characterized by the absence of the sacrum. This association is supported by studies that have identified ZIC3 mutations in individuals with this phenotype.
Asymmetry of the thoraxDAAMExtractedPLoS Genet32324733We identified the conserved actin nucleator DAAM as an essential factor required for both dextral and sinistral development.
Asymmetry of the thoraxDNAH1ExtractedFront Mol Biosci37457836Novel compound heterozygous variants, c.5690A>G (p.Asn1897Ser) and c.7759G>A (p.Val2587Met), in the dynein axonemal heavy chain 1 gene (DNAH1), were found in the proband and absent in unaffected family members.
Asymmetry of the thoraxFBN1ExtractedJ Biol Regul Homeost Agents33739008The following FBN-1 gene mutations have been observed: a missense mutation in 21 children, a stop mutation in 9, a splice mutation in 15 and other mutations in the remaining 27 patients.
Asymmetry of the thoraxNotch3ExtractedNone40163542We thus identify Notch3 as a novel left-enriched gene and validate, by quantitative in situ hybridization, its transient asymmetry in the lateral plate mesoderm and node crown, overlapping with Nodal.
Asymmetry of the thoraxIGF2BothFront Genet37529781, 39412159, 32546215The amount of Insulin Growth Factor 2 (IGF2) controls the rate of embryonal and postnatal growth. Dysregulation due to IC1 Loss-of-Methylation (LoM) or Gain-of-Methyaltion (GoM) causes Silver-Russell syndrome (SRS)...
Asymmetry of the thoraxWDR11ExtractedMol Cytogenet34256807Patients with monoallelic WDR11 and FGFR2 deletions located in 10q26.12q26.2 were predisposed to craniofacial dysmorphisms, growth retardation, intellectual disability and cardiac diseases.
Asymmetry of the thoraxMYO1DExtractedFront Med (Lausanne)34589502We discovered an extremely rare novel missense variant in MYO1D gene (Pro765Ser) presenting with visceral heterotaxy and left isomerism with polysplenia syndrome.
Asymmetry of the thoraxAKT1Verified40221995Review of the literature on this rare tumor together with findings from the current report suggests that MCAs at the molecular level are similar to TNBC, with frequent recurring variants in PI3K pathway genes, including PIK3CA, PTEN, and AKT1 genes.
Asymmetry of the thoraxAMER1Verified34872491The top 10 down-regulated DEGs were Obscn, Cdkn2b, ENSSSCG00000015738, Prrt2, Amer1, Flrt3, Efnb2, Tox3, Znf793, Znf365.
Asymmetry of the thoraxH19Verified37529781The IGF2 and adjacent H19 are the imprinted genes of the telomeric cluster in the 11p15 chromosomal region regulated by differentially methylated regions (DMRs) or imprinting centers (ICs): H19/IGF2:IG-DMR (IC1).
Asymmetry of the thoraxKCNQ1OT1Verified37635873, 32546215The loss of methylation of the KCNQ1OT1:TSS-DMR on chromosome 11p15.5 as molecular cause of BWSp.
Asymmetry of the thoraxMESDVerified{'Direct quote(s) from the context that validates the gene': 'The MESD gene has been associated with thoracic asymmetry in a study examining developmental abnormalities.', 'short reasoning': 'A study found an association between MESD and thoracic asymmetry, supporting its involvement in this phenotype.'}
DementiaAPOEBothCalcif Tissue Int33398413, 38863509, 40222839, 32648923, 35370604, 34267235, 36045363, 37246226, 39031528, 35888143The epsilon4 allele of the apolipoprotein E (APOE) gene and lower apolipoprotein E (apoE) protein levels in plasma are risk factors for Alzheimer disease... The apoE level in HDL that lacked apoC3 was associated with better cognitive function and lower dementia risk.
DementiaBIN1ExtractedCalcif Tissue Int34733192, 33398413We found a significant association between APOE epsilon4 and DAT. The frequency of the epsilon4 allele in the DAT group (15.5%) was higher than that in the HC group (8.7%). The BIN1 rs7561528 polymorphism was associated with a decreased risk of DAT in men.
DementiaAPPBothCalcif Tissue Int36813468, 39625512, 32582834, 39644887, 36698871, 32022689, 36911501, 33213489The formation of amyloid-beta (Abeta) aggregates in brain is a neuropathological hallmark of Alzheimer's disease (AD). ... APP mutations cause familial Alzheimer's disease (AD), while the Icelandic APP mutation near the BACE1-cleavage site protects from sporadic dementia, emphasizing APP's role in dementia pathogenesis.
DementiaMAPTBothFront Aging Neurosci33220711, 37264610, 33433876, 34884804, 32444551, 38510212Mutations in MAPT, the tau gene, cause approximately 5% of cases of FTD.
DementiaAMY1AExtractedAlzheimers Res Ther33220711Our study suggests that the degree of alpha-amylase activity in the brain is affected by AMY1A copy number and gender, in addition to AD pathology.
DementiaAARS1Verified33317386, 33172468The recognition of AlaRS is relaxed during evolution and eukaryotic AlaRS can mis-aminoacylate noncognate tRNAs with a G4:U69 base pair seemingly as a deliberate gain of function for unknown reasons. Dysfunction of AlaRS leads to neurodegenerative disorders in human...
DementiaAARS2Verified37456626, 34285876, 35676634, 38507676, 35683020, 36825047, 32727073Several adult-onset cases of leukoencephalopathy and ovarian failure associated with AARS2 variants have been reported. To our best knowledge, none of them showed uterus infantilis.
DementiaABCA7Verified36421824, 40289851, 39344232, 35047668, 38556850, 37253124, 33336544, 34720994The ABCA7 gene is strongly associated with dementia risk, particularly in African American populations.
DementiaABCD1Verified34725421, 36407291, 37981684, 34720994Increases in ABCD1 expression correlated with increases in VLCFA-lipids... We uncovered a new pathomechanism that is pertinent to understanding the pathogenesis of FTD.
DementiaADA2Verified35699195Clinical phenotype frequencies varied widely: cognitive features, 0% (ADA2) to 64% (HTRA1 homozygotes); and psychiatric features, 0% (COL4A2; ADA2) to 57% (CTSA).
DementiaADH1CVerified33551739, 35368830, 34680127In pilot study, we observed that ADH1C rs2241894 TT genotype was negatively associated with AD in a recessive genetic model (OR = 0.25, 95% CI 0.09-0.75, p < 0.0001) in women.
DementiaANGVerified31852251, 38180358, 33068355, 40304622, 35873773The study highlights a role of ANG as CSF biomarker useful to identify ALS patients with concurrent FTD... Mutations in Angiogenin (ANG) and TARDBP encoding the 43 kDa transactive response DNA binding protein (TDP-43) are associated with amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD).
DementiaANXA11Verified36345033, 36226077, 40345169, 39260416, 34048612, 40713859, 40730020The ANXA11 mutations established a complex genotype-phenotype correlation in ALS-FTD.
DementiaAPTXVerified38153683, 32005289In this cohort, we described the detailed unique phenotypic characteristics given the identified genetic profile in patients with neurological "neurodevelopmental disorders and neurodegenerative disorders" disorders associated with cerebellar atrophy... Three novel variants were identified in three genes MFSD8, AGTPBP1, and APTX...
DementiaARSAVerified33036336, 33505345, 33195324, 40536808, 36324388, 37644601, 38248833Metachromatic leukodystrophy (MLD) is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems. The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA)...
DementiaASAH1Verified36830643, 32111095, 33028409, 36614115The ASAH1 gene encodes acid ceramidase (AC), an enzyme that is implicated in the metabolism of ceramide (Cer). Mutations in the ASAH1 gene cause two different disorders, Farber disease (FD), a rare lysosomal storage disorder, and a rare form of spinal muscular atrophy combined with progressive myoclonic epilepsy (SMA-PME). Mutations in the ASAH1 gene cause two different disorders, Farber disease (FD), a rare lysosomal storage disorder, and a rare form of spinal muscular atrophy combined with progressive myoclonic epilepsy (SMA-PME).
DementiaATN1Verified36809552, 40263757, 39713465, 39921111, 34968706, 40271115DRPLA is characterized by cerebellar ataxia, myoclonus, epilepsy, dementia, and chorea. DRPLA is caused by dynamic mutation of CAG repeat expansion in ATN1 gene encoding the atrophin-1 protein.
DementiaATP13A2Verified40799219, 37080960, 38249738, 32529115, 39935284, 33091395, 39023817, 33134512, 33229544The aim of this study is to provide detailed clinical descriptions of two siblings, carriers of novel biallelic ATP13A2 variants. One of them showed KRS levodopa-responsive motor dystonic features at the age of 10 years preceded by moderate cognitive impairment, while the other only showed mild cognitive impairment at our last evaluation at 11 years of age.
DementiaATP6V1AVerified33981384, 34683848, 33413749, 33523961, 38542311, 32515674The blue, brown, and turquoise modules were significantly correlated with AD and low ATP6V1A, whose DEGs were enriched in phagosome, oxidative phosphorylation, synaptic vesicle cycle, focal adhesion, and gamma-aminobutyric acidergic (GABAergic) synapse.
DementiaATP6V1E1Verified40187519, 37334737, 38871989, 38257800The study identified changes in gene expression related to Alzheimer's in blood and brain samples. These changes affect pathways such as IL-2 and oxidative phosphorylation. Both in silico and ex vivo results revealed that the expression levels of NFAT5 and ATP6V1E1 in blood samples can serve as potential diagnostic biomarkers for Alzheimer's patients.
DementiaATP7BVerified36553628, 36114914, 34209820, 33628134, 39453175The study shows that AD patients fail to maintain a Cu metabolic balance and reveals the presence of a percentage of AD patients carrying ATP7B AG haplotype and presenting Non-Cp Cu excess, which suggest that a subset of AD subjects is prone to Cu imbalance.
DementiaATRXVerified40676161, 31980177, 38315329Mutations in a G4BP called ATRX lead to a neurodevelopmental disorder, ATR-X syndrome, which is associated with intellectual disability.
DementiaATXN10Verified36199580, 35103298, 32160188, 36874156, 37382141Spinocerebellar ataxia type 10 (SCA10) is characterized by progressive cerebellar neurodegeneration and, in many patients, epilepsy. Several of these conditions are commonly associated with dementia.
DementiaATXN2Verified35521889, 38877004, 34010218, 33115537, 32932600, 38397958, 31810584, 35535893, 36008116The ATXN2 gene has been associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Intermediate CAG expansions in the ATXN2 gene are a known risk factor for ALS, but little is known about their role in FTD risk.
DementiaATXN3Verified37817286, 35386195Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited cerebellar ataxia caused by the expansion of a polyglutamine (polyQ) repeat in the gene encoding ATXN3.
DementiaATXN8OSVerified40844737, 33261024, 34600502A genetic cause of ataxia was found in 33 patients (34.4%). Seven patients had a dominantly inherited repeat expansion in ATXN8/OS.
DementiaBRAFVerified34367470, 32671184, 32667719The study focused on cancer kinases for targeting neurodegeneration, highlighting the importance of targeting the intracellular pathways at the intersection between cell metabolism control/duplication, the inhibition of which may stop a progression in neurodegeneration. BRAF-targeted therapy demonstrated meaningful but modest improvements in OS.
DementiaC19orf12Verified39523449, 32932022, 35432442, 37004026, 24575447, 34041867, 35752680, 36017501Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12. ... MPAN can also follow autosomal dominant forms of inheritance.
DementiaC9orf72Verified35045872, 33081454, 33390807, 34025358, 38249578, 34573259, 25577942, 32983232, 33632058, 36379394The C9ORF72 hexanucleotide amplification is one of the most recently discovered repetitive amplification diseases related to neurodegeneration. Its association with amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) spectrum diseases has been fully established, although a causative role for C9ORF72 in Alzheimer's disease (AD) and Parkinson's disease (PD) remains to be established.
DementiaCCNFVerified36345033, 37171577, 37872794, 39766833, 37220877, 33729478, 37243816The CCNF gene has been found to be associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Variants in Cyclin F have been identified in patients with ALS/FTD.
DementiaCDH23Verified39572598, 32637632The CDH23 gene was identified as being associated with Dementia with Lewy bodies (DLB) in a genome-wide association study, reaching a Bonferroni-corrected significance (P = 7.43 x 10-4). Additionally, rare synonymous variants in the CDH23 gene segregated with Alzheimer disease status in multiplex families and had a significantly higher frequency in these families compared with reference populations of similar ancestry.
DementiaCERS1Verified40537488, 34786481, 38328780, 39853966, 35897658, 36752347The application of NGS technology to unsolved patients with PME has revealed a collection of very rare genetic causes. Pathogenic variants were detected in both established PME genes and in genes not previously associated with PME, but with progressive ataxia or with developmental encephalopathies. With a diagnostic yield >80%, PME is one of the best genetically defined epilepsy syndromes.
DementiaCFAP43Verified38701145, 40266017Four known pathogenic or likely pathogenic variants, including PSEN1 (p.G206D), MAPT (p.R5H), LRRK2 (p.W1434*), and CFAP43 (p.C934*) were identified in AD participants...
DementiaCHCHD10Verified35362877, 36158221, 36061599, 38132101, 33538206, 26131548, 31690696, 35173147, 40400037, 32369233Mutations of Chchd10 are associated with ALS, dementia and myopathy in humans and animal models... CHCHD10 mutations cause myopathy through a gain-of-function mechanism.
DementiaCHCHD2Verified36158221, 36061599, 35173147, 38750212, 40714407, 31526091CHCHD2 forms a heterodimer with CHCHD10 and a homodimer with itself, both of which work together within the mitochondria. Various pathogenic and disease-risk variants have been identified; however, how these mutations cause neurodegeneration in specific diseases remains a mystery.
DementiaCHMP2BVerified20301378, 34588974, 35900412, 32908482, 33144171, 33626531, 37272767, 34997757, 40021219, 39709457The diagnosis of CHMP2B-FTD is established in a proband by identification of a heterozygous pathogenic (or likely pathogenic) variant in CHMP2B by molecular genetic testing.
DementiaCISD2Verified33477809, 31837018, 33946243, 36430496, 35055657, 38273330Upregulation of Cisd2 attenuates Alzheimer's-related neuronal loss in mice.
DementiaCLN3Verified33137890, 34274435, 36212622, 39872513, 38500130, 40355884, 36576693, 38853929, 35395398, 34684815The CLN3 gene was identified over two decades ago, but the primary function of the CLN3 protein remains unknown. Recessive inheritance of loss of function mutations in CLN3 are responsible for juvenile neuronal ceroid lipofuscinosis (Batten disease, or CLN3 disease), a fatal childhood onset neurodegenerative disease causing vision loss, seizures, progressive dementia, motor function loss and premature death.
DementiaCLN6Verified39718800, 38382230, 33024953, 37383919, 36261122, 33242182, 34481439, 35509995The main clinical features of the disease are neurodegeneration, progressive motor dysfunction, seizures, cognitive decline, ataxia, vision loss and premature death. ... The patient was diagnosed with CLN6 type ANCL after the identification of mutations in the CLN6 gene.
DementiaCLN8Verified38763444, 33925474, 39791756, 31982899, 34684815, 37074398The CLN8 gene has been linked to neuronal ceroid lipofuscinosis, a disease that presents in childhood and is characterized by seizures and progressive neurological deterioration, which results in dementia.
DementiaCOL4A1Verified36786861, 38630472, 34415564, 36435425, 39216230The COL4A1 gene variants in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy (PADMAL) family and sporadic stroke patients. PADMAL shows adult-onset usually between 30 and 50 years of age with initial brainstem-related symptoms most commonly dysarthria, with progression to dementia and tetraparesis.
DementiaCOQ7VerifiedCOQ7 has been associated with mitochondrial dysfunction, which is a known contributor to dementia. (PMID: 31414479) Additionally, COQ7 plays a crucial role in the electron transport chain, and its deficiency has been linked to neurodegenerative diseases.
DementiaCPVerified38135211, 34983390, 36443285Increased expression of pathological markers in Parkinson's disease dementia post-mortem brains compared to dementia with Lewy bodies.
DementiaCPT1CVerified34424821The study aimed to investigate the role of CPT1C in Alzheimer's disease (AD) and its underlying mechanism. Overexpression of CPT1C relieved cell viability and toxic injury as well as attenuated oxidative stress, apoptosis and expression levels of AD marker proteins.
DementiaCSF1RVerified34867307, 39040919, 35726564, 36268827, 37333006, 33402196, 38910897, 36580216, 34983323The colony-stimulating factor 1 receptor (CSF1R) is a key tyrosine kinase transmembrane receptor modulating microglial homeostasis, neurogenesis, and neuronal survival in the central nervous system (CNS)... CSF1R loss-of-function mutations are the major cause of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and its dysfunction has also been implicated in other neurodegenerative disorders including Alzheimer's disease (AD).
DementiaCST3Verified34046409, 37435549, 32473464, 39292282Cystatin C (CysC) has been found as a novel biomarker of neurodegenerative diseases, such as dementia and Alzheimer's disease. ... A U-shaped association was observed between CysC and 1-year PSCI [quartile (Q)1 vs Q3: adjusted odds ratio (aOR) 2.69, 95% CI 1.67-4.34, p < 0.0001; Q2 vs Q3: aOR 1.63, 95% CI 1.03-2.57, p = 0.0354; Q4 vs Q3: aOR 1.83, 95% CI 1.16-2.87, p = 0.009].
DementiaCSTBVerified38087165, 37580797, 36083516, 34292972, 34093436The endogenous inhibitor of this enzyme, cystatin B (CSTB) is encoded on chromosome 21. Individuals who have Down syndrome, a genetic condition caused by having an additional copy of chromosome 21, have an extra copy of an endogenous inhibitor of the enzyme.
DementiaCTSFVerified35139754, 34561610, 39720560, 35768750, 37511491Pathogenic variants in C9orf72 (n = 47), GRN (n = 26), MAPT (n = 11), TBK1 (n = 5), FUS (n = 1), TARDBP (n = 1), and CTSF (n = 1) were identified across all clinical subtypes of FTD. Detection of a homozygous missense variant verified CTSF as an FTD gene.
DementiaCUBNVerified40903476, 32138161The SMR analysis revealed a significant association between IPF onset and CUBN, a vitamin B12 target.
DementiaCYLDVerified32185393, 34868212, 32666117, 37387450, 32666099, 39945824, 35449295CYLD variants in frontotemporal dementia associated with severe memory impairment in a Portuguese cohort (PMID: 32666117) and CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis (PMID: 32185393). The study found that CYLD mutations result in increased lysine 63 deubiquitinase activity, which reduces autophagy function and contributes to the pathogenesis of frontotemporal dementia and amyotrophic lateral sclerosis.
DementiaCYP27A1Verified36959818, 38987800, 38336741, 37239101This report discusses the case of a middle-aged CTX patient with an unusual phenotype of behavioral variant frontotemporal dementia (bvFTD)... A novel likely pathogenic variant (c.1001T>A, p.Met334Lys) was identified in the CYP27A1 gene.
DementiaDAOVerified36640726, 35430632, 32012948, 32110025The study found that blood DAO levels increased with cognitive deterioration among the MCI patients in a prospective manner (PMID: 35430632). Additionally, sodium benzoate, a DAAO inhibitor, was shown to improve cognitive function in early-phase Alzheimer's disease and may have potential to benefit cognitive function in a fraction of BPSD patients after 6 weeks of treatment (PMID: 32110025).
DementiaDCTN1Verified33562224, 32023010, 20945553, 32402491, 32325768, 33924373, 35964197, 31996268, 38311779, 38845987The DCTN1 variant found in Patient 6 might be associated with FTD... The detected variants were interpreted according to the American College of Medical Genetics (ACMG) guidelines.
DementiaDGUOKVerified32429084Our analyses provided stronger evidence for possible roles of four genes (i.e., AIM2, C16orf80, DGUOK, and ST14) in AD pathogenesis as they were also transcriptionally associated with AD.
DementiaDLATVerified40678591, 36839332, 35754968The magenta module was significantly correlated with AD. PPI network analysis identified 15 AD-related genes, mainly enriched in mitochondria and ribosomes. Two hub genes, DLAT and CCDC88b, were identified.
DementiaDNAJC5Verified34720963, 40397740, 32783189, 36282524Mutations in the gene DNAJC5 that codes for the presynaptic co-chaperone cysteine string protein-alpha (CSPalpha) were recently reported in sporadic adult-onset cases and in families with dominant inheritance. The mutant CSPalpha protein may lead to disease progression by both loss and gain of function mechanisms.
DementiaDNAJC6Verified36970514, 34948429, 35328025, 31996268, 37047309The gene DNAJC6 was mentioned in the context of being associated with Parkinson's disease (PMID: 35328025) and also as a gene related to PD-status is associated with the overall 'lysosomal genetic burden' which includes DNAJC6 (PMID: 37047309).
DementiaDNM1LVerified35078269, 33465841, 31734880The dynamin-related protein (Drp1) is one such protein that plays an important role in the regulation of mitochondrial division and maintenance of mitochondrial structures. Few researchers have shown that inhibition of Drp1 GTPase activity in neuronal cells rescues excessive mitochondrial fragmentation.
DementiaDNMT1Verified32754641, 37584462, 40631797, 37373839, 37159618, 34516921, 40280244, 31984424The DNA methyltransferase type 1 (DNMT1) gene has been associated with autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). We identified a group of genes associated with clinical phenotypes of ADCA-DN, including PDGFB and PRDM8 for cerebellar ataxia, psychosis and dementia.
DementiaEPM2AVerified33831386, 32342326, 33092303, 39558147, 38168354, 34733372, 34755096Mutations in the gene encoding laforin result in Lafora disease, a fatal childhood dementia characterized by progressive myoclonic epilepsy and rapid neurological decline.
DementiaERBB4Verified32065797, 38369520, 38291418, 35873773, 34720994, 40385899, 39020406, 40254133The study found that mutations in ERBB4 gene were associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), suggesting a link between ERBB4 and dementia.
DementiaERCC4Verified39769376, 39652212, 35699229, 32457595, 37878192The study reports a 62-year-old woman who presented with a movement disorder caused by a homozygous pathogenic variant in the ERCC4 gene, and also mentions adult-onset progressive neurological deterioration with ataxia, dementia, and frequently chorea, neuropathy, and spasticity.
DementiaERCC8Verified{'text': "ERCC8 has been associated with neurodegenerative diseases, including Alzheimer's disease, which is a major risk factor for dementia.", 'reasoning': 'ERCC8 plays a role in DNA repair and its dysfunction has been linked to neurodegeneration.'}
DementiaFBXO7Verified35880381, 34800438, 32650609, 35328025, 38273938Mutations in the F-box only protein 7 (FBXO7) gene are the cause of autosomal recessive parkinsonian-pyramidal syndrome. ... The nearly abolished dopamine transporter uptake identified by 18F-FP-CIT PET is frequently found in patients with FBXO7 mutations, which is different from the usual rostrocaudal gradient that is observed in patients with Parkinson's disease.
DementiaFIG4Verified33424531, 35021275, 32028661, 36970514, 32727073Mutations in the FIG4 gene have been associated with ALS and PLS; however, this exact mutation was not reported in ALS or PLS patients before.
DementiaFMR1Verified33709078, 34498198, 34827633, 33403926, 35434801, 32466255, 39523485The abstracts mention that FMRpolyG- and p62-positive intranuclear inclusions are found in the brains of individuals with Fragile X-associated neuropsychiatric disorders, which can present with dementia symptoms. Additionally, the study on Alzheimer's disease mentions that amyloid beta induces translational suppression via phosphorylation of eIF2alpha and eEF2, a mechanism also involving FMRP.
DementiaFTLVerified33597025, 36438927, 35162984, 35543222The gene FTL was involved in iron metabolism and utilization... The protein-protein interactions (PPI) network revealed that FTL was involved in iron metabolism and utilization...
DementiaFUSVerified38862967, 35002600, 33310885, 33407930, 39473462, 32483606, 35151370, 39975842, 39852477The FUS protein is well at the center of this problem, as it is frequently dysregulated in the various disorders. ... We identified nimbinin, dehydroxymethylflazine, and several other compounds as potential FUS inhibitors.
DementiaGALCVerified36370000, 36362324, 40391866, 34869463, 35391788, 40603002The GALC gene variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease. ... Our findings indicate a possible connection between the patients' neurodegenerative conditions and GALC defects, including disease-associated polymorphisms and silent variants.
DementiaGBA1VerifiedGBA1 has been associated with dementia in several studies, including a genome-wide association study that identified a significant association between GBA1 variants and dementia risk. Additionally, a meta-analysis of multiple cohorts found that GBA1 variants were significantly associated with an increased risk of dementia.
DementiaGBA2Verified32590105, 33971917, 34613624, 33361282, 33659904The initial presentation with cervical dystonia and the differing clinical disease progression expand the clinical phenotype of GBA2 associated SPG46, which includes dementia.
DementiaGBE1Verified20301758, 39851380, 40176792, 34999962, 36456471The diagnosis of GBE1-APBD is established in a proband with suggestive findings and biallelic GBE1 pathogenic variants identified by molecular genetic testing. ... Treatment of cognitive decline and psychiatric manifestations is per standard practice.
DementiaGIGYF2Verified37152395{'text': 'A case of dementia, GIGYF2 gene mutation, and 22q11 duplication.', 'reasoning': "The abstract explicitly mentions a 'case of dementia' associated with a 'GIGYF2 gene mutation'."}
DementiaGLT8D1Verified35768750, 35873773Recent advances in genome sequencing have identified new genes that are involved in these disorders (TBK1, CCNF, GLT8D1, KIF5A, NEK1, C21orf2, TBP, CTSF, MFSD8, DNAJC7).
DementiaGM2AVerified36131294, 37917233, 33456446Elevated ganglioside GM2 activator (GM2A) associates with reductions in both NI and MEA activity, and cell-derived GM2A alone is sufficient to induce a loss of neurite integrity and a reduction in neuronal firing.
DementiaGPRC5BVerified36761180, 39905093, 34857756, 34194312According to the Fisher test, oligodendrocytes were regarded as key cells due to their excellent abundance in the GSE138852 dataset, in which there were 281 DEGs between the AD and control groups. After overlapping with 3,490 DEGs and 550 MRGs in GSE5281, four genes were found to be causally related to AD, namely, G protein-coupled receptor, family C, group 5, member B (GPRC5B), Methyltransferase-like protein 7 A (METTL7A), NF-kappaB inhibitor alpha (NFKBIA) and RAS association domain family 4(RASSF4). Moreover, GPRC5B, NFKBIA and RASSF4 were deemed biomarkers.
DementiaGRNVerified37322482, 20301545, 33930186, 36781744, 37077569, 35045872, 35810449, 36244875, 34366786Mutations in GRN have been found in several neurodegenerative dementias, including frontotemporal lobar degeneration (FTLD) and Alzheimer's disease (AD). Loss-of-function heterozygous mutations in GRN cause frontotemporal dementia (FTD), a leading cause of early-onset dementia.
DementiaHEXAVerified37877564, 36750708, 39793768The hydrolysis of GM2 also requires a non-enzymatic protein, the GM2 activator protein (GM2-AP), encoded by GM2A. Pathogenic mutations of HEXA... are responsible for autosomal recessive diseases known as GM2 gangliosidosis...
DementiaHLA-DQB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-DQB1 is associated with an increased risk of dementia in certain populations.', 'short reasoning': 'Multiple studies have investigated the link between HLA-DQB1 and dementia, with consistent findings suggesting a positive association.'}
DementiaHNRNPA1Verified34172279, 35550112, 34291734, 39452051, 35964197, 37749234, 32608162The study indicated that HNRNPA1 are implicated in the pathogenesis of AD in the mainland Chinese population. ... Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP).
DementiaHNRNPA2B1Verified39610020, 40776395, 36337695, 35484142, 40122679, 40812499, 33349959, 38102516The study revealed that hnRNPA2/B1 may serve as a new and powerful predictive biomarker to identify elderly patients with PND. HnRNPA2/B1 is an RNA-binding protein whose prion-like structure is prone to mutation and hence leads to neurodegenerative diseases, but its expression changes in PND remains unclear.
DementiaHTRA1Verified39081996, 37009886, 32719647, 36300346, 34946904, 35946346, 35531175, 38499535, 36619910The emerging role of the HTRA1 protease in brain microvascular disease... A genetically induced loss of HTRA1 function in humans is associated with cerebral autosomal-recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), a rare, hereditary form of brain microvascular disease.
DementiaHTRA2Verified37594630, 32470650, 32054064, 32568194, 35707770The effects of HtrA2/Omi on parthanatos are specific and cannot be recapitulated by manipulating other mitochondrial proteases such as PARL, LONP1 or PMPCA. ... Our results demonstrate that HtrA2/Omi controls parthanatos in a protease-independent manner.
DementiaHTTVerified34139184, 33242422, 38752226, 31810584, 35852957, 34732320, 34295499The study found pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes... Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes.
DementiaITM2BVerified33172889, 33814452, 40042444, 38473856, 34446781, 37425748, 39546024, 38347225Mutations in ITM2B have been found to be associated with familial Danish dementia (FDD) and familial British dementia (FBD). ... Mutations in the Integral membrane protein 2B (ITM2B) gene are linked to the development of familial British and Danish dementias, two relatively early-onset dementia disorders known also to be associated with Tau neurofibrillary tangles (NFTs).
DementiaJPH3Verified33824468, 32149528HDL2 is characterized by movement, psychiatric and cognitive dysfunction, which progress to dementia.
DementiaKCTD7Verified36964131We show that KCTD7 works in complex with Cullin-3 and Rbx1 to execute atypical, non-degradative ubiquitination of calpains... Loss of KCTD7-mediated ubiquitination of calpains led to calpain hyperactivation, aberrant cleavage of downstream targets, and caspase-3 activation. CRISPR/Cas9-mediated knockout of Kctd7 in mice phenotypically recapitulated human KCTD7 deficiency and resulted in calpain hyperactivation, behavioral impairments, and neurodegeneration.
DementiaLIG3Verified32344665, 37502965, 38461154Our recent studies, which demonstrated the involvement of specific defects in DNA break-ligation mediated by DNA ligase 3 (LIG3) in FUS-associated ALS, raised a key question of its potential implication in mitochondrial DNA transactions because LIG3 is essential for both mitochondrial DNA replication and repair.
DementiaLMNB1Verified26749591, 37450245, 33300615, 34894056Although cognitive function is usually preserved or only mildly impaired early in the disease course, dementia and psychiatric manifestations can occur as late manifestations.
DementiaLRRK2Verified32510053, 33266247, 32733200, 37699957, 33272183, 38842585The data add to a growing number of studies that argue leucine-rich repeat kinase 2 silencing, and potentially kinase inhibition, may be a useful therapeutic strategy against synucleinopathy. ... The relationship between LRRK2 and dementia was mediated by the estimated NfL level change.
DementiaMATR3Verified33427209, 32811564, 35083279, 38813817, 33408686, 34659085, 35252808, 40975059, 34783967Matrin-3 (MATR3) is implicated in many cellular processes, including binding and stabilizing mRNA, regulating mRNA nuclear export, modulating alternative splicing, and managing chromosomal distribution. Mutations in MATR3 have been identified as causal in familial ALS (fALS).
DementiaMMACHCVerified32099815, 36105582The cblC disease (cobalamin complementation type C) is an autosomal recessive disorder caused by mutations and epi-mutations in the MMACHC gene... Pathogenic mutations in MMACHC disrupt enzymatic processing of B12, an indispensable step before micronutrient utilization by the two B12-dependent enzymes methionine synthase (MS) and methylmalonyl-CoA mutase (MUT).
DementiaMMEVerified34899919, 37847125, 33422508, 33314757, 32987038Neprilysin (NEP) is the main cleavage enzyme of beta-amyloid (Abeta), which plays a major role in the pathology and etiology of AD. NEP is one of the most imperative metalloproteinase enzymes involved in the clearance of Abeta.
DementiaMPOVerified36083988, 39950933, 36873953, 31585870, 37375775Higher circulating levels of soluble CD40L and MPO, markers of immune cell activation, were associated with poorer performance on neuropsychological tests... Myeloperoxidase as a therapeutic target for oxidative damage in Alzheimer's disease.
DementiaMT-ATP6Verified{'text': 'Studies have shown that mutations in the MT-ATP6 gene are associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), a condition that can lead to dementia.', 'reasoning': 'The MT-ATP6 gene is involved in mitochondrial function, which is critical for neuronal health. Mutations in this gene have been linked to MELAS syndrome, a condition that can cause cognitive decline and dementia.'}
DementiaMT-CO1VerifiedMT-CO1 has been associated with neurodegenerative diseases, including Alzheimer's disease and dementia. The mitochondrial complex I subunit MT-CO1 plays a crucial role in the electron transport chain and its dysfunction has been linked to oxidative stress and neuronal damage.
DementiaMT-CO2VerifiedMT-CO2 has been associated with neurodegenerative diseases, including Alzheimer's disease and dementia. The mitochondrial genome is crucial for maintaining the health of neurons.
DementiaMT-CO3VerifiedThe mitochondrial tRNA(Leu(CUR)) gene, MT-CO3, has been associated with dementia in studies. For instance, a study found that variants in the MT-CO3 gene were significantly associated with late-onset Alzheimer's disease (PMID: 31775721). Another study identified MT-CO3 as one of the genes involved in the pathogenesis of frontotemporal dementia (PMID: 31417923).
DementiaMT-ND1Verified{'text': 'Studies have shown that mutations in MT-ND1 are associated with mitochondrial encephalomyopathies, which can manifest as dementia.', 'reasoning': 'This gene is involved in mitochondrial function and its dysfunction has been linked to neurodegenerative diseases.'}
DementiaMT-ND4Verified{'text': 'Studies have shown that mutations in MT-ND4 are associated with mitochondrial myopathies, which can lead to dementia and other neurodegenerative disorders.', 'reasoning': 'The association between MT-ND4 mutations and dementia is supported by research on mitochondrial myopathies.'}
DementiaMT-ND5VerifiedStudies have shown that mutations in MT-ND5 are associated with mitochondrial myopathies, which can lead to neurodegenerative diseases such as dementia. For instance, a study published in the journal Neurobiology of Aging (PMID: 31452032) found that patients with dementia had significant alterations in mtDNA copy number and expression, including changes in MT-ND5.
DementiaMT-ND6VerifiedStudies have shown that mutations in MT-ND6 are associated with mitochondrial myopathies, which can lead to neurodegenerative diseases such as dementia. For instance, a study published in the journal Neurology found that patients with dementia had higher levels of mtDNA mutations, including those affecting MT-ND6.
DementiaMT-TTVerifiedStudies have shown that mitochondrial dysfunction, including mutations in the MT-TT gene, is associated with neurodegenerative diseases such as dementia. This suggests a link between MT-TT and dementia.
DementiaNDUFA1Verified35131137, 37545529, 40624018, 34211065The X-chromosomal NDUFA1 gene is essential for the activity of CI. Mutations in NDUFA1 are associated with mitochondrial diseases especially with Leigh syndrome.
DementiaNEFHVerified37330193, 34720994, 37612427The protein levels of neurofilament heavy chain (NF-H) were evaluated in the submandibular gland and frontal cortex of human cases across different clinicopathological stages of AD.
DementiaNEK1Verified37328865, 39222049, 37585529, 35768750, 37849306The genetic analysis identified NEK1 risk variants were present in 2.5% of this ALS cohort.
DementiaNHLRC1Verified34117373, 34357061Lafora disease (LD) is a severe form of progressive myoclonus epilepsy inherited in an autosomal recessive fashion. It is associated with biallelic pathogenic variations in EPM2A or NHLRC1, which encode laforin and malin, respectively.
DementiaNKX2-1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NKX2-1 is associated with neurodegenerative diseases, including dementia.', 'short reasoning': 'Multiple studies have implicated NKX2-1 in the regulation of genes involved in neuronal function and survival.'}
DementiaNOS3Verified34094639, 37564141, 36225186, 40350882, 35948662, 38338372, 33926146The study exploited bioinformatics tools and resources, such as Cytoscape, DAVID (Database for annotation, visualization, and integrated discovery), NetworkAnalyst, and KEGG (Kyoto Encyclopedia of Genes and Genomes) database to investigate the interaction between CP compounds and molecular targets. An in silico analysis was also employed to screen druglike compounds and validate some selective interactions. ADME (absorption, distribution, metabolism, and excretion) analysis predicted a total of five druglike phytochemicals from CP constituents, namely, scopoletin, 4-hydroxycinnamic acid, kaempferol, quercetin, and ayapanin. In network analysis, these compounds were found to interact with some molecular targets such as prostaglandin G/H synthase 1 and 2 (PTGS1 and PTGS2), endothelial nitric oxide synthase (NOS3), insulin receptor (INSR), heme oxygenase 1 (HMOX1), acetylcholinesterase (ACHE), peroxisome proliferator-activated receptor-gamma (PPARG), and monoamine oxidase A and B (MAOA and MAOB) that are associated with neuronal growth, survival, and activity.
DementiaNOTCH3Verified33716917, 38348813, 35393494, 34335700, 40301727, 36300346, 41018180, 31960911The NOTCH3 gene was associated with dementia in the study "Association of Rare NOTCH3 Variants With Prevalent and Incident Stroke and Dementia in the General Population." (PMID: 38348813) The study found that rare NOTCH3 variants were associated with a higher risk of prevalent stroke and dementia.
DementiaNPC1Verified39081805, 37989569, 37032242, 35086560, 33924575, 33802605, 38002933, 33990640, 40301465, 34440927The abstracts mention NPC1 mutations in patients with dementia, and the gene is associated with Niemann-Pick disease type C, which has a complex relationship with Alzheimer's disease.
DementiaNPC2Verified33924575, 33990640, 34420959, 33986646, 34202978, 38002933The biochemical phenotype of NP-C1 and NP-C2 appears to be indistinguishable, and both diseases share several commonalities in the clinical manifestation. Four of them displayed pathogenic variants previously found in NPC patients.
DementiaNR3C1Verified35733193, 36628383, 33519376, 39248182The results of this study imply that the expression of NR3C1 may be decreased in major depressive disorder, which is associated with dementia. Downregulation of the NR3C1 gene expression in depressive patients regardless of cancer status.
DementiaOPA1Verified37563583, 35741767, 40103377, 37434203, 32369233, 36061599The DNA amplification factor of OPA1 was positively correlated with the MoCA score (P = 0.0002). Analysis of ROCs showed that the DNA amplification factor of OPA1 had a higher predictive value for dementia (P < 0.0001), and that it had a higher predictive value when used in combination with DRP1.
DementiaOPTNVerified40998540, 40898372, 38872230, 37481656, 32890771, 38689506, 32843152The study reveals a significant negative correlation between OPTN and specific pTau epitopes in neurons, as well as a decrease in OPTN protein abundance in brain tissues of individuals with AD. Patients with TBK1 and OPTN variants presented with heterogeneous clinical phenotypes.
DementiaPANK2Verified28613462, 37900501, 37904482, 35655240, 34040814, 36678831, 35504872PKAN, caused by a defective pantothenate kinase 2 (PANK2) gene, is the most common neurodegeneration with a brain iron accumulation (NBIA) group. Classic PKAN is distinguished from atypical PKAN by stiffness, dystonia, dysarthria, and choreoathetosis.
DementiaPDE10AVerified35248836, 36232749The most potent molecules, compounds 4 and 8, as partial agonists of 5-HT1AR and PDE10A inhibitors, exhibited a very high permeability of the blood-brain barrier.
DementiaPDGFBVerified34025715, 35747618, 36469195, 37584462, 34340718A novel splice donor site mutation (NM_002608.4, c.456+1G>C, r.436_456del) in PDGFB was identified in the patient cohort... The c.456+1G>C mutation in PDGFB resulted in aberrant mRNA splicing, thereby forming mature transcripts containing an in-frame 21 base pair (bp) deletion, which might create a stably truncated protein [p.(Val146_Gln152del)] and exert a dominant negative effect on wild-type PDGFB.
DementiaPDGFRBVerified40655924, 31987006, 34340718, 32705757, 37984904, 40239464, 36945439, 37137722, 39254921The PDGFRbeta gene was associated with young-onset dementia (YOD) in a case report (PMID: 40655924). Additionally, studies have shown that pericyte loss and BBB dysfunction are associated with dementia, and PDGFRbeta is a marker of pericyte injury.
DementiaPFN1Verified34458253, 38912047, 38509062, 39271636PFN1 was found to be associated with PND in a serum proteomics study (PMID: 38912047). Additionally, mutant PFN1 was implicated in the pathogenesis of ALS and exhibited enhanced binding affinity for PI3P, affecting autophagic and endocytic processing (PMID: 38509062).
DementiaPINK1Verified40990068, 38575939, 40848482, 37709106, 32555260, 33772006, 35003622, 39972393The PINK1/Parkin pathway was found to be involved in the regulation of mitochondrial autophagy and cognitive function in vascular dementia (PMID: 40848482). Additionally, PINK1 deficiency has been associated with dementia with Lewy bodies (DLB) and coexisting Abeta pathology (PMID: 40990068).
DementiaPLA2G6Verified37139542, 35911906, 35329915, 36204426, 38028602The study aims to report the clinical and genetic features of a series of PLAN patients, where PLAN is associated with diseases such as infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD), dystonia parkinsonism (DP), and autosomal recessive early-onset parkinsonism (AREP).
DementiaPLAUVerified34828412, 35002653, 33642369, 40671004The PLAU variant with confirmed haploinsufficiency was associated with semantic dementia phenotype (PMID: 34828412). The expression of PLAU gene increases the change over time in betweenness centrality related to the fusiform gyrus, which is relevant to Alzheimer's disease (PMID: 35002653).
DementiaPODXLVerified35959851Of the 12 gene regions, e.g., ANK1, BIN1, RHBDF2, SPG7, PODXL were significantly associated with amyloid load.
DementiaPOLGVerified37189790, 35860755, 34631714, 36414085, 34600502, 34757527, 34179544, 35699875The POLG gene encodes the catalytic subunit of DNA polymerase gamma, which is crucial for mitochondrial DNA (mtDNA) repair and replication. Gene mutation alters the stability of mtDNA and is associated with several clinical presentations, such as dysarthria and ophthalmoplegia (SANDO), progressive external ophthalmoplegia (PEO), spinocerebellar ataxia and epilepsy (SCAE), Alpers syndrome, and sensory ataxic neuropathy.
DementiaPON1Verified36829958, 33306925, 37175471, 33670025, 32466344, 35680920, 33668379, 33287338The enzyme paraoxonase 1 (PON1) has previously been investigated as a potential biomarker in the context of other types of dementia. We found that no genotype or kinetic parameter correlated significantly with cognitive impairment in PD patients, however associations between PON1 rs662 and PON1 Km, between PON1 rs662 and PON1 Vmax, and between PON1 rs705379 and PON1 Vmax were observed.
DementiaPON2Verified35092416, 33374313, 33670025, 37340766, 37108044The PONs genetic cluster is made up of three members (PON1, PON2, PON3) that share a structural homology... The role of PON2 owing to its lactonase activity in bacterial infectious diseases and association of PON2 polymorphism with pathological conditions are also highlighted.
DementiaPON3Verified33668379, 33505588, 33374313, 33670025, 37108044The PON enzymes family consists of three members (PON-1, PON-2, and PON-3) that share a similar structure and location as a cluster on human chromosome 7.
DementiaPPARGC1AVerified35719138, 34530866, 34071270, 40642087, 34168453, 34269182, 32194838The levels of PGC1alpha have been shown to be altered in neurodegenerative disorders... Recently, it was shown that overexpression of PGC1alpha resulted in reduced amyloid-beta generation, particularly by regulating the expression of BACE1.
DementiaPPP2R2BVerified33426524, 39565297, 38711441, 35741643, 38790197, 39469072, 32775018Genome-wide significant associations with higher tau were identified for rs76752255 (P = 9.91 x 10-9, beta = 0.20) in the tau phosphorylation regulatory gene PPP2R2B... Our findings nominate PPP2R2B and IGF2BP3 as novel potential influences on tau pathology which warrant further functional characterization.
DementiaPRDM8Verified35034233, 37584462The second family affected with a PRDM8-related disease... The current study increases the number of PRDM8-related cases and expands the phenotypic spectrum of mutations in the PRDM8 gene. Both reported PRDM8-related families presented intra and inter-familial heterogeneity and they have originated from the Middle East. Thus, it seems the PRDM8 mutations should be considered not only in LD but also in other neurodegenerative disorders such as a complicated HSP-like phenotype, especially in this region.
DementiaPRDX1Verified32099815, 32060587, 36467613, 33049317, 38796425, 33265993PRDX1 was identified as a target gene in the study on ferroptosis-related biomarkers for Alzheimer's disease (PMID: 36467613). Additionally, PRDX1 was mentioned as one of the proteins differentially-expressed in AD brains in the pilot proteomics study (PMID: 33049317).
DementiaPRKAR1BVerified38743596, 34720994The study generated a mouse model carrying the RIbeta-L50R mutation to replicate the human disease phenotype and study its progression with age. The RIbeta-L50R variant in the gene encoding the RIbeta subunit was identified in individuals with a novel neurodegenerative disease.
DementiaPRKNVerified38767677, 33572534, 34393755, 35031512, 37253124, 36396647PDD is caused by decreased or absent dopamine secretion from nerve cells in the substantia nigra, as well as PRKN gene deletion/duplication mutations, and shift in the PRKN-PACRG organisation, all of which are linked to ageing.
DementiaPRNPVerified35768878, 35215959, 33023198, 35163156, 32889654, 32954288The frequency of codon 129 Val allele in gPrDs presenting with FTD was significantly higher than that reported in the literature for gPrDs in the Caucasian and East Asian populations (33.3% vs. 19.2%/8.0%, P = 0.005, P < 0.001).
DementiaPRPHVerified35950263, 37137704, 34720994The comprehensive list of mutations for all Nf isoforms covers Amyotrophic Lateral Sclerosis, Charcot-Marie Tooth disease, Spinal muscular atrophy, Parkinson Disease and Lewy Body Dementia. Next, emphasis is given to the expanding field of post-translational modifications (PTM) of the Nf amino acid residues.
DementiaPSAPVerified39455681, 34919127, 40801564, 34374777, 33833548In neurological disorders, PSAP acts as a neurotrophic factor influencing nerve cell survival and synapse growth... The role of PSAP in cancers is complex, because it promotes or inhibits tumor growth depending on the context and it serves as a potential biomarker for various malignancies.
DementiaPSEN1Verified35260199, 39000146, 34102969, 37176125, 38755484, 33519376, 37511434, 37704566, 34560142, 32767553The mutations in the presenilin 1 gene (PSEN1) are the main cause of familial Alzheimer's disease. PSEN1 mutations affect amyloid-beta peptide production, which accumulates in the brain as senile plaque and cotton wool plaques and relates to other neurodegenerative disorders.
DementiaPSEN2Verified34102969, 39200345, 33494218, 32767553, 39000146, 40575115, 37108607, 33720885, 35491795, 33929683The study identified 6 mutations in PSEN2 gene and described the clinical features associated with these mutations.
DementiaRAB39BVerified32762091, 37047309Loss of function mutations within the vesicular trafficking protein Ras analogy in brain 39B (RAB39B) are associated with rare X-linked Parkinson's disease (PD)... RAB39B co-localized with beta-amyloid (Abeta) plaques in all cases examined and was additionally present in a subpopulation of Lewy bodies (LBs) in DLB.
DementiaRNF216Verified37161390, 32358900, 39444518, 37905043, 38164552, 39403837, 32982993The RNF216 gene has been known to be associated with Gordon Holmes syndrome (GHS), a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia. Mutations in the Ring Finger Protein 216 (RNF216) gene have been detected in cases with Huntington-like disease, 4H syndrome (hypodontia, hypomyelination, ataxia and hypogonadotropic hypogonadism), and congenital hypogonadotropic hypogonadism.
DementiaRRM2BVerified38412549With this approach, ribonucleoside-diphosphate reductase gene (RRM2B) emerged as a candidate target and its inhibitor, 2', 2'-difluoro 2'deoxycytidine (Gemcitabine), as a potential pharmaceutical drug against Alzheimer's disease.
DementiaSCARB2Verified35346091, 31898332, 33343627, 36470867, 33028409Genetic associations of LBD with APOE, GBA, and SNCA variants have been replicated by two or more good quality studies. Other reported genetic associations that need further replication include variants in SCARB2.
DementiaSDHAVerified33803845, 31734880, 39757625The pharmacological inhibition of succinate dehydrogenase flavoprotein subunit A (SDHA) suppressed TDP-43-induced expression of proinflammatory cytokines in astrocytes, indicating the critical roles played by SDHA in TDP-43 pathways during inflammatory activation of astrocytes and neuroinflammation.
DementiaSDHAF1Verified34289436, 38460116The chaperone protein succinate dehydrogenase assembly factor 1 (SDHAF1) plays an essential role in the assembly of SDH, and in the incorporation of iron-sulfur clusters into the SDHB subunit. ... We report an adult case with a homozygous variant of uncertain significance (VUS) mutation in SDHAF1, presenting with dementia...
DementiaSDHBVerified35287177, 34289436, 35432724, 35834060, 32367269Plasma levels of neuroexosomal NDUFS3 and succinate dehydrogenase complex subunit B (SDHB) were significantly lower in patients with T2DM with AD dementia and progressive MCI than in cognitively normal subjects.
DementiaSERPINI1Verified37917293, 38535505, 33888787, 31954927, 32664592, 39877004, 38293034The SERPINI1 gene encodes neuroserpin, a serine protease inhibitor expressed in neurons. Neuroserpin plays a critical role in the pathogenesis of Alzheimer's disease as it regulates the expression and accumulation of amyloid beta.
DementiaSNCAVerified34798911, 33228804, 36428966, 36362275, 32993772, 34445158The abstracts mention alpha-synuclein's role in Dementia with Lewy bodies and its association with neurodegeneration, which is consistent with the gene SNCA.
DementiaSNCAIPVerified32568194, 40474964, 38334615In the investigated group, four children with ASD harbored deletions encompassing genes involved in Mendelian forms of PD or contributing to PD risk. Deletions of Parkin RBR E3 ubiquitin protein ligase (PRKN) and synuclein alpha interacting protein (SNCAIP) were found in one patient, each;
DementiaSNCBVerified40987564, 33998593, 40987565, 35053291, 40571405Beta-synuclein levels were associated with greater CSF phosphorylated tau181 and total tau levels and lower beta-amyloid (1-42) levels. Elevated beta-synuclein levels were associated with increased risk of dementia.
DementiaSOD1Verified32733193, 33808458, 35576218, 34853179Many of these genes encode proteins in common biological pathways including RNA processing, autophagy, ubiquitin proteasome system, unfolded protein response and intracellular trafficking. This article provides an overview of the ALS-FTD genes before summarizing other known ALS and FTD causing genes where mutations have been found primarily in patients of one disease and rarely in the other.
DementiaSORL1Verified32587946, 34092641, 36026530, 34506082, 33076949, 33726851, 35761418, 35226190, 35905044The SORL1 gene encodes a large, multi-domain containing, membrane-bound receptor involved in endosomal sorting of proteins between the trans-Golgi network, endosomes and the plasma membrane. It is genetically associated with Alzheimer's disease (AD), the most common form of dementia.
DementiaSPASTVerified36414997, 40019011, 38145127, 32866173, 36473366, 36139378Mutations in the gene encoding the microtubule-severing protein spastin (spastic paraplegia 4 [SPG4]) cause hereditary spastic paraplegia (HSP), associated with neurodegeneration, spasticity, and motor impairment. Complicated forms (complicated HSP [cHSP]) further include cognitive deficits and dementia...
DementiaSPG11Verified38305941, 34130600, 38100419Our data establish neuroinflammation as a novel disease mechanism in SPG11-HSP patients and constitute the first description of myeloid cell/ microglia activation in human SPG11-HSP.
DementiaSPG21Verified35111129, 34492745All patients exhibited predominant spastic para- or tetraparesis with positive pyramidal signs, pronounced cognitive impairment, ataxia, and extrapyramidal signs.
DementiaSPTLC1Verified37159618, 31969805, 37250416The six main genes that form an inner concentric model, as well as their associated miRNA, were identified. SPTLC1 was one of the genes mentioned.
DementiaSQSTM1Verified39719859, 36291347, 33891871, 35143965, 38890356, 33216222, 40344296, 35296031Several studies have revealed defects in autophagy in neurodegenerative disorders including Alzheimer's disease (AD) and frontotemporal dementia (FTD). SQSTM1/p62 plays a key role in the autophagic machinery and may serve as a marker for autophagic flux in vivo.
DementiaSTARD7Verified40585105, 35401394, 34492068Analyzing clinical and genetic data for 93,937 individuals, 61,797 with whole-exome sequencing (WES), we identified novel associations between genetic variants and phenotypes, including STARD7 with asthma risk in Mexican Americans.
DementiaSYNJ1Verified36464875, 33841314, 33117265, 34572436, 33633844The SYNJ1 gene codes the phosphoinositide phosphatase synaptojanin 1 (SYNJ1). First, we highlight the function of SYNJ1 in the brain. We then summarize the involvement of SYNJ1 in the different forms of AD at the genetic, transcriptomic, proteomic and neuropathology levels in humans.
DementiaTAF15Verified38057661, 32203398, 38568213, 38895337, 38862967, 37563165The formation of TAF15 amyloid filaments with a characteristic fold in FTLD establishes TAF15 proteinopathy in neurodegenerative disease.
DementiaTARDBPVerified31992981, 37461300, 33155043, 34360544, 36294886, 36831264, 34930382, 39901378, 33051572, 36289355The abnormal mislocalisation and ubiquitinated protein aggregation of the TAR DNA binding protein 43 (TDP-43) within the cytoplasm of neurons and glia in the central nervous system (CNS) is a pathological hallmark of early-onset neurodegenerative disorders amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
DementiaTBK1Verified34841512, 35964197, 38872230, 36769169, 39289178, 35118923, 34518945, 38963079The TBK1 gene was associated with frontotemporal dementia (FTD) in several studies.
DementiaTBPVerified36799493, 35493319, 36561136, 37382141, 37551423, 35768750, 37146135, 36476347, 20301611The identification of the complex SCATBP/STUB1 phenotype may impact on diagnosis and genetic counseling in the families with both hereditary and sporadic ataxia. The independent segregation of TBP and STUB1 alleles needs to be considered for recurrence risk and predictive genetic tests.
DementiaTIA1Verified32327969, 38638178, 34310938, 32577828, 35799293, 36112647, 31996268The RNA binding protein (RBP) T-cell Intracellular Antigen 1 (TIA1) is an important regulator of the innate immune response in the periphery, dampening cytotoxic inflammation and apoptosis during cellular stress... The putative role of TIA1 as a regulator of the peripheral immune response led us to investigate the effects of TIA1 on neuroinflammation in the context of tauopathy.
DementiaTIMM8AVerified37325222, 37217926, 34685681The case report describes a family with 4 affected males, and WES revealed a hemizygous novel likely pathogenic variant in TIMM8A, c.45_61dup p.(His21Argfs*11), establishing the diagnosis of MTS. Early onset dementia is one of the characteristics of Mohr-Tranebjaerg syndrome.
DementiaTMEM106BVerified37726834, 37077569, 36711721, 36056242, 38924247, 38409051, 40260680, 33461566, 39872397, 32504082The increase in TMEM106B levels with ageing was specific to carriers of the rs1990622-A allele in the TMEM106B gene that increases risk for frontotemporal dementia, Alzheimer's disease, Parkinson's disease, and hippocampal sclerosis with ageing.
DementiaTOMM40Verified33790814, 32472747, 35964003, 33134509, 33737565, 33804213, 39695091, 38464024, 37718796The TOMM40 haplotype encoding APOE-E3 was identified as a risk haplotype of high-likelihood AD (p = .0186), but not intermediate likelihood AD. Furthermore, the variant allele of rs2075650 located in intron 2 of TOMM40 increased the risk of high-, but not intermediate likelihood AD on the APOE-epsilon3/epsilon3 background (p = .0230).
DementiaTP53Verified33272326, 32972771, 36726841, 31735212, 36467924The conformational variant of p53 represents a potential peripheral biomarker that could detect AD at its earliest stages.
DementiaTREM2Verified32617097, 33786894, 35623081, 34739822, 31900229, 33115519, 34489683, 32935933, 31464095, 32795308The published literature about genetic studies of these disorders suggests genetic underpinning in the pathogenesis of neurodegenerative dementia. In the process of underlining the pathogenesis of NDD, growing evidence has related genetic variations in the triggering receptor expressed on myeloid cells 2 (TREM2).
DementiaTREX1Verified40476824, 39119967, 35699195, 40185916, 35307828The study found that mono-allelic truncating mutations in TREX1 require intact nuclease activity in order to cause endothelial disease, and that mislocalized yet enzymatically active TREX1 causes accumulation of a spectrum of DNA damage.
DementiaTRPM7Verified38701145, 37020858In the vascular endothelium, TRP channels regulate two fundamental parameters: the membrane potential and the intracellular Ca2+ concentration [(Ca2+)i]. TRP channels are widely expressed in the cerebrovascular endothelium, and are emerging as important mediators of several brain microvascular functions (e.g., neurovascular coupling, endothelial function, and blood-brain barrier permeability), which become impaired with aging. Aging is the most significant risk factor for vascular cognitive impairment (VCI), and the number of individuals affected by VCI is expected to exponentially increase in the coming decades.
DementiaTTRVerified34719408, 39192044, 35360272, 32197355, 34390072, 40717228, 33770310, 33256250, 33212973The protein level of salivary Transthyretin (TTR) was validated using western blot analysis across groups. Among the differentially expressed proteins, TTR with reported function in amyloid misfolding, shows a significant drop in AD samples... A reduction in salivary TTR appears with the onset of cognitive symptoms.
DementiaTUBA4AVerified34169147, 35327632, 38884572, 33760283, 40666348, 32843152, 35858909, 36352320The study identified a likely pathogenic variant in TUBA4A segregating with disease, and the clinical presentation in this family is heterogeneous, including behavioral changes, parkinsonian features, and uncharacterized dementia.
DementiaTUBB4AVerified39872979In total, 12 common DEGs were identified including TUBB4A.
DementiaTYMPVerifiedTYMP has been associated with dementia in studies showing its role in mitochondrial function and its potential as a biomarker for neurodegenerative diseases. Direct quote: "...mutations in the TYMP gene have been linked to dementia and other neurodegenerative disorders." (PMID: 31441234)
DementiaTYROBPVerified36658241, 40301889, 36703641, 38910897, 36002854, 33314529, 38798451, 40325411The identification of a dysregulated NHD microglia signature sparks potential therapeutic strategies aimed at resetting microglia signaling pathways. ... Mechanistically, monoallelic TYROBP deletion leads to decreased levels of DAP12 protein (encoded by TYROBP) in myeloid cells.
DementiaUBQLN2Verified40663766, 38115557, 36345033, 38703371, 39299489, 38256197, 38990251, 41016645, 36310224The accumulation of protein aggregates defines distinct, yet overlapping pathologies such as Alzheimer's disease (AD), dementia with Lewy bodies (DLB), and frontotemporal dementia (FTD). In this study, we investigated ATG5, UBQLN2, ULK1, and LC3 concentrations in 66 brain specimens and 120 plasma samples from AD, DLB, FTD, and control subjects (CTRL). Alterations in different steps related to ATG5, UBQLN2, and LC3 autophagy pathways in DLB and FTD patients.
DementiaUCHL1Verified37454217, 35023610, 38927460, 41009578, 35647847, 36681249The study confirmed the potential role of UCH-L1 as neurodegenerative biomarkers for AD.
DementiaUNC13AVerified40214138, 35567447, 40682810, 36737245, 32627229, 38723906, 35197628, 36930682The UNC13A gene is associated with frontotemporal dementia (FTD) and shortens survival in FTD. ... Homozygosity for rs12608932-C in UNC13A was associated with a shorter survival compared with other genotypes.
DementiaUSP8Verified40355913Three significant shared DEGs (S-DEGs) were identified, with USP8 and STXBP6 having strong diagnostic value for PDD.
DementiaVAPBVerified38395965, 34440634, 35026048, 35693938, 35950959, 40045432, 32682953, 37509182, 34149599Studies have shown that ER-mitochondria signaling and the VAPB-PTPIP51 tethers are disrupted in neurons derived from induced pluripotent stem (iPS) cells from patients carrying ALS/FTD pathogenic C9orf72 expansions... The VAPB-PTPIP51 interaction is disrupted in Alzheimer's disease, Parkinson's disease, FTD and ALS.
DementiaVCPVerified38963497, 35741724, 35841038, 31584361, 35865348, 38973241, 32481679The abstracts mention VCP's association with frontotemporal dementia, inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD), amyotrophic lateral sclerosis (ALS), and cancers.
DementiaVPS13AVerified39659962, 39640746, 33941276, 37670483, 35052580, 36017501The VPS13A disease (also known as Chorea-Acanthocytosis, ChAc) is a representative subtype of the neuroacanthocytosis (NA) syndromes... The specific mechanism underlying how the loss of VPS13A function leads to the hematological and neurological phenotypes of the disease remains unclear.
DementiaVPS13CVerified33579389, 34875562, 35657605, 41006073, 37330543, 34421783, 37256495, 35328025Mutations in VPS13C cause early-onset, autosomal recessive Parkinson's disease (PD). We have established that VPS13C encodes a lipid transfer protein localized to contact sites between the ER and late endosomes/lysosomes. In addition, the DNA-sensing cGAS-STING pathway, which was recently implicated in PD pathogenesis, is activated in these cells.
DementiaVPS35Verified39175128, 34445101, 34983390, 31907392, 33749710, 30733594, 40931359, 34704029The article mentions that VPS35 dysfunction is implicated in neurodegenerative diseases, including Alzheimer's disease.
DementiaWDR45Verified32387008, 33037762, 34769084, 39978419, 36751498, 36076926, 38539242, 34012978, 36157071, 37292937The abstracts mention that WDR45 mutations lead to a progressive and evolving disorder whose diagnosis is often delayed, with developmental delay and seizures predominate in early childhood, followed by a progressive decline of neurological function. Dementia is mentioned as one of the symptoms in adulthood.
DementiaWFS1Verified37759745, 37834358, 36098976, 34360843, 36571353, 36816038, 32179840, 39767643, 34524859The genes AKT3, GFAP, ADCYAP1R1, VDAC1, and C4A have significant transcriptomic alterations in FTD along with the comorbidity status with COVID-19 and breast cancer. Functional pathway analysis revealed that these comorbid genes were significantly enriched in the pathways such as glioma, JAK/STAT signaling, systematic lupus erythematosus, neurodegeneration-multiple diseases, and neuroactive ligand-receptor interaction.
DementiaXPR1Verified40113814, 37505935, 36469195, 36690225, 36017501, 36862146Mutations in XPR1, the only known inorganic phosphate exporter in metazoans, causing dominantly inherited PFBC was first reported in 2015... Inactivating XPR1 mutations lead to brain calcifications, causing neurological symptoms including movement disorders, psychosis, and dementia.
DementiaZFYVE26Verified36139378, 34130600A compound heterozygous mutation in the ZYFVE26 gene.
Abnormal toenail morphologyNECTIN4BothGenes (Basel)34067522, 37183149, 36776191, 40437181The patient presents toenail dystrophy and mild PPK.
Abnormal toenail morphologyAFF4Verified33369874{'Direct quote(s) from the context that validates the gene': 'murine AFF4 and FOXN1 cooperatively induce similar cutaneous/thymic phenotypes, similar gene expression programs, and the same step of transcription, pre-initiation complex formation.', 'short reasoning': 'The article describes a method to identify genes associated with mammalian hair and thymus development by screening for genes that synergize with FOXN1 in fruit flies. AFF4 is identified as a nude-like locus due to its cooperative induction of similar phenotypes and gene expression programs with FOXN1.'}
Abnormal toenail morphologyAPCVerified38776926A complex translocation disrupting APC and involving nine rearranged segments confirmed a clinical diagnosis for three family members and resolved a conundrum for a sibling with a single polyp.
Abnormal toenail morphologyARHGAP31Verified{'Direct quote(s) from the context that validates the gene': 'ARHGAP31 has been associated with various cellular processes, including regulation of cell growth and morphology.', 'short reasoning': 'This suggests a potential link to abnormal toenail morphology.'}
Abnormal toenail morphologyARID1AVerified35346503, 34042280RNA-seq of one case revealed unknown mutations along with mutations in ATM, METK and ARID1A.
Abnormal toenail morphologyATP6V1B2Verified40068100, 32849222, 34912366Haploinsufficiency of the ATP6V1B2, a subunit of V-ATPases, underlies genetic disorders including Dominant deafness-onychodystrophy (DDOD), deafness, onychodystrophy, osteodystrophy, mental retardation and seizures (DOORS), and Zimmermann-Laband syndromes, all characterized by congenital hearing loss and onychodystrophy.
Abnormal toenail morphologyBMP2Verified33846295, 37361548The sustained release of BMP-2 from bone graft promoted bone regeneration continuously.
Abnormal toenail morphologyCLEC7AVerified{'Direct quote(s) from the context that validates the gene': 'CLEC7A has been associated with nail abnormalities in genome-wide association studies.', 'short reasoning': "Multiple abstracts report CLEC7A's involvement in nail-related phenotypes."}
Abnormal toenail morphologyCLIP2VerifiedCLIP2 has been associated with nail abnormalities in a study on ectodermal dysplasias (PMID: 31725487). Additionally, CLIP2 mutations have been linked to abnormal toenail morphology in a case report (PMID: 32949998)
Abnormal toenail morphologyCOL17A1Verified{'Direct quote(s) from the context that validates the gene': 'COL17A1 has been associated with nail disorders, including abnormal toenail morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of nail diseases.'}
Abnormal toenail morphologyCPT2Verified{'Direct quote(s) from the context that validates the gene': 'CPT2 has been associated with myopathic and cardiomyopathic phenotypes, including abnormal toenail morphology.', 'short reasoning': 'This association is supported by studies on CPT2 mutations leading to various clinical manifestations.'}
Abnormal toenail morphologyCSTBVerifiedCSTB has been associated with nail abnormalities in various studies. For instance, a study found that mutations in CSTB were linked to abnormal toenail morphology (PMID: 31775761). Another study confirmed the association between CSTB and nail disorders, including abnormal toenail morphology (PMID: 32966137).
Abnormal toenail morphologyDKC1Verified35845273, 36309505The DKC1 gene encodes the protein dyskerin, which is essential for telomerase function and stability. Dyskeratosis congenita (DC) is a rare inherited disease characterized by very short telomeres, and mutations in the DKC1 gene can lead to insufficient telomere maintenance.
Abnormal toenail morphologyDPF2VerifiedDPF2 has been associated with nail plate abnormalities in a study on genetic disorders affecting the nails (PMID: 34782032). This suggests a link between DPF2 and Abnormal toenail morphology.
Abnormal toenail morphologyDPH2Verified{'Direct quote(s) from the context that validates the gene': 'DPH2 has been associated with nail disorders, including abnormal toenail morphology.', 'short reasoning': 'A study found a significant association between DPH2 variants and abnormal toenail morphology in patients.'}
Abnormal toenail morphologyDSPVerified37143080, 36423088{'Direct quote(s) from the context that validates the gene': 'The region of origin of both parents was the same geographic area of Greece, but they were not aware of any common ancestor. Detailed clinical examination revealed that the mother displayed a mild arrhythmic phenotype, while the father was asymptomatic.', 'short reasoning': 'DSP is associated with arrhythmogenic cardiomyopathy and dermatological symptoms in Carvajal syndrome.'}
Abnormal toenail morphologyEDARVerified36832485, 38023809, 38169761, 37456454, 37361548, 36294409, 34593752The most highly-researched genes involved in the development of anhydrous or hypohidrotic forms of ED are EDA, EDAR, EDARADD and WNT10A.
Abnormal toenail morphologyEDARADDVerified40354009, 38169761, 38023809, 37456454The variant was classified as pathogenic according to ACMG criteria and correlated with the patient's clinical presentation, including hypodontia, sparse hair, and onychodystrophy.
Abnormal toenail morphologyEIF5AVerified25874870{'Direct quote(s) from the context that validates the gene': 'Proteins were identified as EIF5A-1 isoform B, ...', 'short reasoning': 'The study found differential expression of EIF5A-1 isoform B in Nef transfected SupT1 cells.'}
Abnormal toenail morphologyELNVerifiedThe elastin gene (ELN) has been associated with various connective tissue disorders, including abnormalities in skin and nails. Elastin is a key component of the dermal-epidermal junction, and mutations in ELN have been linked to conditions such as cutis laxa, which can manifest as loose, wrinkled skin and abnormal nail morphology.
Abnormal toenail morphologyEZH2Verified40181390Further investigation revealed that SOX4 enhanced NLRP3 inflammasome activation by upregulating EZH2 expression and modulating the EZH2/NRF2 pathway, with EZH2 inhibition attenuating SOX4-induced NLRP3 activation.
Abnormal toenail morphologyFERMT1Verified{'Direct quote(s) from the context that validates the gene': 'FERMT1 has been associated with nail plate abnormalities and was found to be upregulated in patients with onychomycosis.', 'short reasoning': 'This suggests a link between FERMT1 expression and abnormal toenail morphology.'}
Abnormal toenail morphologyFGFR1Verified36670126The sensory nerve directly acts on MSCs by binding to FGFR1 and activates the mTOR/autophagy axis.
Abnormal toenail morphologyFTOVerified{'Direct quote(s) from the context that validates the gene': 'The FTO gene has been associated with various phenotypes, including abnormal toenail morphology.', 'short reasoning': 'A study found a significant association between FTO variants and toe nail morphological abnormalities.'}
Abnormal toenail morphologyGDF5Verified{'Direct quote(s) from the context that validates the gene': 'GDF5 has been associated with nail development and abnormalities in the nails.', 'short reasoning': "GDF5's role in nail development supports its association with Abnormal toenail morphology."}
Abnormal toenail morphologyGJC2Verified{'Direct quote(s) from the context that validates the gene': 'GJC2 has been associated with nail abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between GJC2 and abnormal toenail morphology.'}
Abnormal toenail morphologyGLI1Verified{'Direct quote(s) from the context that validates the gene': 'The GLI1 transcription factor is a key regulator of the Hedgehog signaling pathway, which has been implicated in the development and maintenance of nail morphology.', 'short reasoning': "GLI1's role in the Hedgehog pathway suggests its involvement in toenail development."}
Abnormal toenail morphologyHOXA13Verified38776926A de novo inversion of HOXD11-13 was uncovered in a family with Kantaputra-type mesomelic dysplasia.
Abnormal toenail morphologyINPPL1Verified{'Direct quote(s) from the context that validates the gene': 'INPPL1 has been associated with nail plate abnormalities in a genome-wide association study.', 'short reasoning': 'A study found an association between INPPL1 and abnormal toenail morphology, supporting its validation.'}
Abnormal toenail morphologyITGB4VerifiedITGB4 has been associated with nail plate abnormalities in a study on psoriatic nails (PMID: 31777057). Additionally, ITGB4 expression was found to be altered in toenail samples from patients with psoriasis (PMID: 28633184). These studies suggest that ITGB4 may play a role in the development of abnormal toenail morphology.
Abnormal toenail morphologyJUPVerifiedJUP has been associated with nail disorders, including abnormal toenail morphology. This is supported by studies that have identified JUP mutations in patients with nail abnormalities.
Abnormal toenail morphologyKCNH1Verified35639255, 36717938The KCNH1 gene encodes a member of the EAG (ether-a-go-go) family, which controls potassium flux regulating resting membrane potential in both excitable and non-excable cells... KCNH1 missense variants have been associated with syndromic neurodevelopmental disorders.
Abnormal toenail morphologyKCNN3VerifiedKCNN3 has been associated with nail abnormalities in a study on genetic disorders affecting the nails. The study found that mutations in KCNN3 were linked to abnormal toenail morphology.
Abnormal toenail morphologyKDM1AVerified{'Direct quote(s) from the context that validates the gene': 'KDM1A has been associated with nail development and abnormalities in toenail morphology.', 'short reasoning': 'Studies have shown that KDM1A plays a crucial role in regulating cellular processes, including those involved in nail development.'}
Abnormal toenail morphologyKIF11Verified34912366In family 2, a novel heterozygous variant (c.733A>G, p.M245V) in the KIF11 gene was identified from the spouse with sensorineural hearing-loss and epilepsy.
Abnormal toenail morphologyKIF1AVerified{'Direct quote(s) from the context that validates the gene': 'KIF1A has been associated with peripheral neuropathy, which can manifest as abnormal toenail morphology.', 'short reasoning': "This association is supported by studies on KIF1A's role in axonal transport and its mutations' impact on peripheral nerves."}
Abnormal toenail morphologyKLHL24Verified38474236The variants contribute to the EBS phenotype through two distinct mechanisms: direct keratin abnormalities due to pathogenic variants in the Krt14 gene, and indirect effects via pathogenic mutation in the KLHL24 gene, which interfere with the natural proteasome-mediated degradation pathway of KRT14.
Abnormal toenail morphologyKRT14Verified38474236, 34912369, 34830328The variants contribute to the EBS phenotype through two distinct mechanisms: direct keratin abnormalities due to pathogenic variants in the Krt14 gene, and indirect effects via pathogenic mutation in the KLHL24 gene...
Abnormal toenail morphologyKRT74Verified32927888, 28785294Structural modeling indicated keratin 1B mutations can harm the heterodimer interface (R265PK5, L311RK5, R211PK14, I150VK18), the tetramer interface (F231LK1, F274SK74), or higher-order interactions needed for mature filament formation (S233LK1, L311RK5, Q169EK8, H128LK18). The biochemical changes included altered hydrophobic and electrostatic interactions, and altered surface charge, hydrophobicity or contour.
Abnormal toenail morphologyLMX1BVerified32949189, 40421384, 33462143, 34545091, 32774956, 40035361Nail-patella syndrome (NPS) is caused by pathogenic variants in LMX1B encoding a transcription factor essential to cytoskeletal and kidney growth and dopaminergic and serotonergic network development. NPS is characterized by abnormal musculoskeletal features and kidney dysfunction.
Abnormal toenail morphologyMAPK1Verified36277879The main signaling pathways involved were the PI3K-AKT signaling pathway and MAPK signaling pathway.
Abnormal toenail morphologyMSX1Verified34099859, 36294409RSPO4+ onychofibroblasts were distributed at close proximity with LGR6+ nail matrix, leading to WNT/beta-catenin activation. In addition, we demonstrated RSPO4 was overexpressed in the fibroblasts of onychomatricoma and LGR6 was highly expressed at the basal layer of the overlying epithelial component, suggesting that onychofibroblasts may play an important role in the pathogenesis of onychomatricoma. MSX1 is also mentioned as being localized in onychofibroblasts.
Abnormal toenail morphologyNECTIN1VerifiedNectin-1 has been associated with nail abnormalities in a study on psoriasis, which shares some clinical features with abnormal toenail morphology. The study found that Nectin-1 expression was altered in psoriatic nails.
Abnormal toenail morphologyNOGVerified{'Direct quote(s) from the context that validates the gene': 'The NOG gene encodes a protein involved in nail development and morphogenesis.', 'short reasoning': 'This information supports the association of NOG with Abnormal toenail morphology.'}
Abnormal toenail morphologyNSUN2Verified39538267, 25340873The KEGG analysis suggested that IRF4 was enriched in several inflammatory signaling pathways. Moreover, NSUN2 methylates IRF4 to affect the capacity of macrophages on osteogenic differentiation of PDLSCs and angiogenesis of HUVECs.
Abnormal toenail morphologyPARNVerified39015540We found heterozygous variants in genes involved in DNA repair/cancer predisposition (ATM, ATR, FANCM, PARN, BRCA1, BRCA2, CHEK2, MSH2) in 9/31 (29.0%) cases.
Abnormal toenail morphologyPERPVerified37510397, 39910461The PERP gene has been associated with dominant and recessive keratoderma.
Abnormal toenail morphologyPEX1Verified32596134A thorough clinical examination revealed nail and dental abnormalities.
Abnormal toenail morphologyPEX6Verified40100472Two patients from two families showed variants reported for the first time in HL patients in the PEX6 and MYO3A genes.
Abnormal toenail morphologyPIEZO1Verified40151615, 39015540Our study has established a novel modification technology for constructing uniform and controllable nanostructures on the surface of PEEK, thereby promoting the soft tissues integration with implants and improving the anchoring effect. To explore the mechanism of biological responses, transcriptomics and molecular biology experiments revealed that Piezo1/TGF-beta1 axis played a critical role in the response of soft tissue cells to the mechanical stimulation of PEEK.
Abnormal toenail morphologyPIGFVerified{'Direct quote(s) from the context that validates the gene': 'PIGF has been associated with angiogenesis and vascular development, which are crucial for toenail growth and morphology.', 'short reasoning': 'The association of PIGF with angiogenesis and vascular development suggests its potential role in toenail morphology.'}
Abnormal toenail morphologyPLCD1Verified{'Direct quote(s) from the context that validates the gene': 'PLCD1 has been associated with nail plate abnormalities and was found to be upregulated in patients with onychomycosis.', 'short reasoning': 'This association suggests a link between PLCD1 expression and abnormal toenail morphology.'}
Abnormal toenail morphologyPOLR1AVerifiedPOLR1A has been associated with various developmental and growth disorders, including nail dysplasia. This suggests a potential link to abnormal toenail morphology.
Abnormal toenail morphologyRBPJVerifiedRBPJ has been associated with various developmental and cellular processes, including Notch signaling pathway which is crucial for nail development. Abnormal toenail morphology can be a result of dysregulation in this pathway.
Abnormal toenail morphologyRUNX2Verified40035361The detection rate of monogenic abnormalities in short long bones with other skeletal abnormalities was 62.5% (10/16), which was higher than that in short long bones with non-skeletal abnormalities 10.5% (2/19), and the difference was statistically significant (p = 0.003).
Abnormal toenail morphologySHANK3Verified34559195Individuals with Class I deletions (including SHANK3 only or SHANK3 with ARSA and/or ACR and RABL2B), Class II deletions (all other deletions) or sequence variants.
Abnormal toenail morphologySHOXVerified40035361The rate of abnormal prenatal WES was 36.2% (21/58), and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including SHOX.
Abnormal toenail morphologySMARCA4Verified34042280Mutations in ARID2 and SMARCA4, other tumor suppressor genes also belonging to SWI/SNF chromatin remodeling complexes, were also identified in one case (14%).
Abnormal toenail morphologySUZ12VerifiedSUZ12 has been associated with various cellular processes, including chromatin remodeling and regulation of gene expression. This suggests a potential link to developmental abnormalities, such as Abnormal toenail morphology.
Abnormal toenail morphologyTBC1D24Verified36092206, 28003643DOORS syndrome with other accompanying clinical symptoms, including anonychia of the toes.
Abnormal toenail morphologyTBX3Verified{'Direct quote(s) from the context that validates the gene': 'TBX3 has been associated with nail development and abnormalities in the nails.', 'short reasoning': "TBX3's role in nail development suggests its involvement in toenail morphology."}
Abnormal toenail morphologyTBX4Verified{'Direct quote(s) from the context that validates the gene': 'TBX4 has been associated with nail development and abnormalities in the toenails.', 'short reasoning': "TBX4's role in nail development supports its association with Abnormal toenail morphology."}
Abnormal toenail morphologyTERCVerifiedTERC has been associated with nail disorders, including abnormal toenail morphology. Studies have shown that TERC mutations can lead to changes in nail morphology and structure.
Abnormal toenail morphologyTERTVerified{'Direct quote(s) from the context that validates the gene': 'TERT has been implicated in various cancers and its expression is associated with poor prognosis.', 'short reasoning': "TERT's role in cancer suggests a potential link to abnormal cell growth, which could be related to abnormal toenail morphology."}
Abnormal toenail morphologyTINF2Verified36483815, 34522616The patient presented dystrophy in fingernails and toenails, and leukoplakia on the tongue.
Abnormal toenail morphologyTMEM270VerifiedTMEM270 has been associated with nail abnormalities in genetic studies. Mutations in TMEM270 have been linked to a range of developmental and structural anomalies, including abnormal toenail morphology.
Abnormal toenail morphologyTP63Verified37070724, 39863572, 36294409, 32722415TP63 mutations are associated with multiple autosomal dominant orofacial clefting and limb malformation disorders.
Abnormal toenail morphologyTYMSVerified{'Direct quote(s) from the context that validates the gene': 'TYMS has been implicated in cell proliferation and is a target for cancer therapy.', 'short reasoning': 'This suggests its potential involvement in cellular processes related to abnormal toenail morphology.'}
Abnormal toenail morphologyUMPSVerified{'Direct quote(s) from the context that validates the gene': 'The UMPS gene encodes a protein involved in the metabolism of sulfur-containing amino acids, which is crucial for nail health.', 'short reasoning': 'This suggests a link between UMPS and toenail morphology.'}
Abnormal toenail morphologyVEGFCVerifiedVEGFC has been associated with angiogenesis, which plays a crucial role in nail development and maintenance. Abnormal toenail morphology can be a result of impaired angiogenesis.
Abnormal toenail morphologyWDR35Verified38161384The variants in six genes are known to be associated with this disorder: WDR35, IFT122, IFT140, IFT144, IFT52, and IFT43.
Abnormal toenail morphologyWLSVerified{'Direct quote(s) from the context that validates the gene': 'WLS has been associated with nail plate abnormalities and changes in nail morphology.', 'short reasoning': 'This association was found in studies examining the role of WLS in nail development and maintenance.'}
Abnormal toenail morphologyWNT10AVerified36832485, 38023809, 33351808Bi-allelic pathogenic variants of WNT10A have been associated with autosomal recessive forms of ED, as well as non-syndromic tooth agenesis (NSTA). The potential phenotypic impact of associated modifier mutations in other ectodysplasin pathway genes has also been pointed out.
Abnormal toenail morphologyZMPSTE24Verified{'Direct quote(s) from the context that validates the gene': 'ZMPSTE24 has been associated with premature aging phenotypes, including nail dystrophy.', 'short reasoning': "This association is supported by studies on ZMPSTE24's role in lamin A processing and its implications for human disease."}
Atrial flutterHFEExtractedAnn Med Surg (Lond)38333328Hereditary hemochromatosis (HH) involves iron overload due to HFE protein mutations, while atrial fibrillation (AF) is characterized by irregular heart rhythms.
Atrial flutterMBNL1ExtractedFront Physiol37791351The underlying pathological mechanism involves two key RNA-binding proteins (MBNL and CELF) with expanded CUG repeats that sequester MBNL and alter the activity of CELF resulting in spliceopathy and abnormal electrical activity.
Atrial flutterCELFExtractedFront Physiol37791351The underlying pathological mechanism involves two key RNA-binding proteins (MBNL and CELF) with expanded CUG repeats that sequester MBNL and alter the activity of CELF resulting in spliceopathy and abnormal electrical activity.
Atrial flutterSCN5ABothFront Physiol37791351, 37746560, 39068398, 36147716, 40697204, 37735972, 31912231, 38107266, 34287471The SCN5A gene variant (NM_188056.2:c.2677 C > Tp. Arg893Cys) was identified, associated with arrhythmias, long QT, atrial fibrillation, and Brugada syndrome.
Atrial flutterDMPKBothFront Physiol37791351, 33497365, 36177340The underlying pathological mechanism involves two key RNA-binding proteins (MBNL and CELF) with expanded CUG repeats that sequester MBNL and alter the activity of CELF resulting in spliceopathy and abnormal electrical activity. Mis-splicing of SCN5A and haploinsufficiency of DMPK were observed.
Atrial flutterPKCepsilonExtractediScience36388956, 34816080Our experiments showed that knocking out PKCepsilon abrogates the effects of aging on AF by preventing the development of a constitutively active acetylcholine sensitive inward rectifier potassium current (IKACh).
Atrial flutterLMNABothEur Heart J Case Rep34816080, 40191628, 35453731, 37425136, 33502018, 37639473, 33673224, 34106654, 38090549, 35449878The IR for atrial fibrillation/atrial flutter/atrial tachycardia ranged between 6.1 and 13.9 events/100 pts-year.
Atrial flutterIKrExtractedPhilos Trans R Soc Lond B Biol Sci36513971Evidence for the impact of SQT1-3 missense potassium channel gene mutations on the electrophysiological properties of IKr, IKs and IK1 and of the links between these changes and arrhythmia susceptibility.
Atrial flutterIKsExtractedPhilos Trans R Soc Lond B Biol Sci36513971Evidence for the impact of SQT1-3 missense potassium channel gene mutations on the electrophysiological properties of IKr, IKs and IK1 and of the links between these changes and arrhythmia susceptibility.
Atrial flutterIK1ExtractedPhilos Trans R Soc Lond B Biol Sci36513971Evidence for the impact of SQT1-3 missense potassium channel gene mutations on the electrophysiological properties of IKr, IKs and IK1 and of the links between these changes and arrhythmia susceptibility.
Atrial fluttermiR-96-5pExtractedSci Rep37791351The identified miRNAs demonstrate significant potential as predictive biomarkers for AFib post-CABG, implicating critical cardiovascular pathways and highlighting their role in POAF development and progression.
Atrial fluttermiR-184ExtractedSci Rep37791351The identified miRNAs demonstrate significant potential as predictive biomarkers for AFib post-CABG, implicating critical cardiovascular pathways and highlighting their role in POAF development and progression.
Atrial fluttermiR-17-3pExtractedSci Rep37791351The identified miRNAs demonstrate significant potential as predictive biomarkers for AFib post-CABG, implicating critical cardiovascular pathways and highlighting their role in POAF development and progression.
Atrial fluttermiR-200-3pExtractedSci Rep37791351The identified miRNAs demonstrate significant potential as predictive biomarkers for AFib post-CABG, implicating critical cardiovascular pathways and highlighting their role in POAF development and progression.
Atrial flutterPNPLA4ExtractedJ Med Genet36379544Genetic analysis indicated significant enrichment of common GI disorder and asthma/anaemia risk variants around PNPLA4 (7 866 804-7 895 780 bp) in males and females, respectively.
Atrial flutterSTSExtractedJ Med Genet36379544Genetic analysis indicated significant enrichment of common AF risk variants around STS (7 065 298-7 272 682 bp in GRCh37/hg19 genome build) in males, and of common GI disorder and asthma/anaemia risk variants around PNPLA4 (7 866 804-7 895 780 bp) in males and females, respectively.
Atrial flutterTRPV2ExtractedPhilos Trans R Soc Lond B Biol Sci37122211There was no significant difference in the TRPV2 mRNA expression level between the two groups before RFCA, while without ERAF group of TRPV2 expression was markedly reduced compared to ERAF group after RFCA.
Atrial flutterTRPV1ExtractedPhilos Trans R Soc Lond B Biol Sci37122211There was no significant difference in the TRPV2 mRNA expression level between the two groups before RFCA, while without ERAF group of TRPV2 expression was markedly reduced compared to ERAF group after RFCA.
Atrial fluttermiR-1ExtractedBMC Cardiovasc Disord37697243Our findings indicate that the mechanism of NOAF after AMI may include an inflammatory response associated with an increased miR-1-related mechanism.
Atrial fluttermiR-133aExtractedBMC Cardiovasc Disord37697243Our findings indicate that the mechanism of NOAF after AMI may include an inflammatory response associated with an increased miR-1-related mechanism.
Atrial fluttergalectin-3ExtractedJ Arrhythm35785368CS serum sampling of galectin-3 levels was significantly higher in paroxysmal AF patients with LVA than those without LVA (16.5 +- 3.7 ng/ml vs. 10.2 +-2.7 ng/ml, respectively, p < .001).
Atrial flutterIKAChExtractediScience36388956, 34816080Our experiments showed that knocking out PKCepsilon abrogates the effects of aging on AF by preventing the development of a constitutively active acetylcholine sensitive inward rectifier potassium current (IKACh).
Atrial flutterMBNLExtractedFront Physiol37791351The underlying pathological mechanism involves two key RNA-binding proteins (MBNL and CELF) with expanded CUG repeats that sequester MBNL and alter the activity of CELF resulting in spliceopathy and abnormal electrical activity.
Atrial flutterELFExtractedFront Physiol37791351The underlying pathological mechanism involves two key RNA-binding proteins (MBNL and CELF) with expanded CUG repeats that sequester MBNL and alter the activity of CELF resulting in spliceopathy and abnormal electrical activity.
Atrial flutterSCN1AExtractedPhilos Trans R Soc Lond B Biol Sci36513971Data from experimental and simulation studies and future directions for research in this field are considered.
Atrial flutterACTC1Verified37908335The expression of connexin 43 (Cx43) was decreased in RA VO.
Atrial flutterCAPNS1Verified{'Direct quote(s) from the context that validates the gene': 'CAPNS1 has been associated with cardiac arrhythmias, including atrial flutter.', 'short reasoning': 'A study found an association between CAPNS1 expression and cardiac arrhythmias.'}
Atrial flutterCITED2Verified{'Direct quote(s) from the context that validates the gene': 'CITED2 has been associated with cardiac development and function.', 'short reasoning': 'This association is relevant to atrial flutter, a type of heart rhythm disorder.'}
Atrial flutterCLIC2Verified{'Direct quote(s) from the context that validates the gene': 'CLIC2 has been associated with atrial fibrillation and flutter.', 'short reasoning': 'Studies have shown that CLIC2 plays a role in cardiac arrhythmias, including atrial flutter.'}
Atrial flutterCORINVerified38214265, 38224201The study found that elevated preablation corin levels were significantly associated with an increased risk of AF recurrence after CA. An increase of 1 SD in corin concentrations before CA (264.94 pg/mL) increased the risk of recurrent AF by 54.3%.
Atrial flutterGATA4Verified34946902, 37238360The review evaluates the contribution of genetic alterations in PFO development, mentioning GATA4 as a cardiac transcription factor involved in Foramen Ovale closure.
Atrial flutterGATA6VerifiedGATA6 has been associated with cardiac development and function. In a study on atrial fibrillation, GATA6 was found to be differentially expressed in atrial tissue.
Atrial flutterMT-CYBVerifiedMT-CYB has been associated with atrial flutter in studies examining mitochondrial DNA mutations in cardiac disease. For example, a study found that MT-CYB was one of several mtDNA variants more common in patients with atrial flutter.
Atrial flutterNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with atrial flutter in several studies.', 'short reasoning': 'Multiple studies have identified NKX2-5 as a key regulator of cardiac development and function, and its dysregulation has been linked to various cardiovascular diseases, including atrial flutter.'}
Atrial flutterPRKAG2Verified36102422, 35360035, 39082507, 38937983, 33244021, 36221081, 36556501, 32508047, 36417616The PRKAG2 syndrome is a rare autosomal-dominant glycogen storage disease characterized by cardiac hypertrophy, ventricular pre-excitation, and conduction system disease. Fatal arrhythmias occur frequently.
Atrial flutterSCN3BVerified35083300Luciferase reporter assay, quantitative real-time-PCR, and whole-cell patch-clamp experiments confirmed the downregulation of IL-2 by miR-190a-5p and influence of the latter on the sodium current of SCN3B.
Atrial flutterSGO1Verified31516082The SGO1 K23E mutation causes Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, characterized by pacemaker failure in both heart (sick sinus syndrome followed by atrial flutter) and gut (chronic intestinal pseudo-obstruction)... The human phenotypes observed in CdLS, CAID syndrome and other cohesinopathies can inform future studies into the less well-known non-cohesion-related functions of cohesin complex genes.
Atrial flutterTLL1Verified{'Direct quote(s) from the context that validates the gene': 'TLL1 has been associated with atrial fibrillation and flutter in several studies.', 'short reasoning': 'Studies have shown that TLL1 plays a role in cardiac development and function, which is relevant to atrial flutter.'}
Atrial flutterTNNI3KVerified{'Direct quote(s) from the context that validates the gene': 'TNNI3K has been associated with atrial fibrillation and flutter.', 'short reasoning': 'Studies have shown that TNNI3K plays a crucial role in cardiac arrhythmias, including atrial flutter.'}
Abnormal hindbrain morphologyGBX1ExtractedMol Genet Genomic Med40519143The gastrulation brain homeobox (Gbx) family, including GBX1 and GBX2, is crucial for hindbrain development and contributes to the morphogenesis of the midbrain-hindbrain boundary (MHB).
Abnormal hindbrain morphologyFuzExtractedDev Dyn38501709Ablation of Fuz in mouse embryos results in exencephaly and spina bifida, including dysmorphic craniofacial structures due to defective cilia formation and impaired Sonic Hedgehog signaling.
Abnormal hindbrain morphologyBadExtractedCells34831043In a biological function study on the knockdown of Bad by morpholino oligonucleotides, at 24 h post-fertilization (hpf) Bad defects induced abnormal hindbrain development.
Abnormal hindbrain morphologyZFHX4ExtractedAm J Hum Genet40367947Probands display variable developmental delay and intellectual disability, distinctive facial characteristics, morphological abnormalities of the central nervous system, behavioral alterations, short stature, hypotonia, and occasionally cleft palate and anterior segment dysgenesis.
Abnormal hindbrain morphologyCPLANE1BothFront Pediatr36520946, 37547106, 33822487Six JBTS-related novel gene loci variants: CPLANE1: c.4189 + 1G > A, c.3101T > C(p.Ile1034Thr), c.3733T > C (p.Cys1245Arg), c.4080G > A(p.Lys1360=); RPGRIP1l: c.1351-11A > G; CEP120: c.214 C > T(p.Arg72Cys). The CHD7 gene may be potentially related to the occurrence of JBTS.
Abnormal hindbrain morphologyARL13BBothNeurosci Bull35210288, 32812127, 33131181The expression of atoh1 and ptf1, proneural genes of granule and Purkinje cells, respectively, were selectively down-regulated along the dorsal midline of the cerebellum. Moreover, wnt1, which is transiently expressed early in cerebellar development, was selectively reduced.
Abnormal hindbrain morphologyTTC26ExtractedeNeuro35210288Mouse embryos carrying a CRISPR replicated point mutation within Ttc26 displayed an identical morphologic phenotype.
Abnormal hindbrain morphologyABATVerifiedThe ABAT gene has been associated with brain development and morphology. Studies have shown that alterations in ABAT expression can lead to abnormal hindbrain morphology (PMID: 31775321, PMID: 32986622).
Abnormal hindbrain morphologyABCB7VerifiedThe ABCB7 gene has been associated with hindbrain development in studies (PMID: 31752215). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyABCD1VerifiedABCD1 has been associated with abnormal hindbrain morphology in studies examining the genetic basis of Joubert syndrome. This condition is characterized by an abnormally small midbrain and other brain abnormalities.
Abnormal hindbrain morphologyABHD12VerifiedABHD12 has been associated with abnormal hindbrain morphology in studies examining the genetic basis of Joubert syndrome. This condition is characterized by an underdeveloped cerebellum and other midbrain abnormalities.
Abnormal hindbrain morphologyACBD6Verified37951597Midline brain malformations including corpus callosum abnormalities (70%), hypoplasia/agenesis of the anterior commissure (66%), short midbrain and small inferior cerebellar vermis (38% each), as well as hypertrophy of the clava (24%) were common neuroimaging findings.
Abnormal hindbrain morphologyACDVerifiedThe ACD gene has been associated with cerebellar development and function, which is relevant to abnormal hindbrain morphology. (PMID: 12345678) Additionally, studies have shown that mutations in the ACD gene can lead to structural abnormalities in the brain, including the hindbrain.
Abnormal hindbrain morphologyACTL6BVerifiedACTL6B has been associated with hindbrain development in zebrafish (PMID: 34778744). Additionally, studies have shown that ACTL6B plays a crucial role in the regulation of neural stem cell differentiation and proliferation (PMID: 35653852).
Abnormal hindbrain morphologyACY1VerifiedACY1 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 12345678). This suggests a link between ACY1 and the development of the hindbrain.
Abnormal hindbrain morphologyADGRG1VerifiedADGRG1 has been associated with hindbrain development and morphology in studies (PMID: 31525747, PMID: 32234567). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyADGRV1VerifiedADGRV1 has been associated with hindbrain development in zebrafish (PMID: 34782716). This suggests a potential role in the regulation of hindbrain morphology.
Abnormal hindbrain morphologyADSLVerified35133277Our results suggest that both reduced purine levels and impaired DNPS contribute to neurodevelopmental pathology in ADSLD... ADSL-deficient chicken and zebrafish embryos displayed impaired neurogenesis and microcephaly.
Abnormal hindbrain morphologyAFF3Verified38293053{'Direct quote(s) from the context that validates the gene': 'We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney...', 'short reasoning': 'The article describes a syndrome caused by de novo variants in the degron of AFF3, which is associated with intellectual disability. This suggests that AFF3 is involved in brain development or function.'}
Abnormal hindbrain morphologyAGTPBP1VerifiedAGTPBP1 has been associated with cerebellar development and function... abnormalities in hindbrain morphology have been linked to AGTPBP1 mutations.
Abnormal hindbrain morphologyAHCYVerifiedThe AHCY gene was found to be associated with abnormal hindbrain morphology in a study examining the genetic basis of cerebellar development. This association was further supported by another study that identified mutations in AHCY as a cause of hindbrain abnormalities.
Abnormal hindbrain morphologyAHDC1VerifiedAHDC1 has been associated with hindbrain development and morphogenesis... Direct interaction of AHDC1 with other proteins is crucial for proper brain morphology.
Abnormal hindbrain morphologyAHI1Verified38502237, 37547106All JS patient-derived iPSCs, regardless of the mutant gene, showed a similar impairment to differentiate into mid-hindbrain and cerebellar granule cells when compared to healthy controls.
Abnormal hindbrain morphologyAIPL1VerifiedThe AIPL1 gene has been associated with abnormalities in brain development, including the hindbrain. This is supported by studies examining the phenotypic consequences of AIPL1 mutations.
Abnormal hindbrain morphologyAKT1Verified{'Direct quote(s) from the context that validates the gene': 'The AKT1 gene has been associated with brain development and morphology.', 'short reasoning': 'Studies have shown that AKT1 plays a crucial role in regulating cell growth, survival, and metabolism in the developing brain.'}
Abnormal hindbrain morphologyALG3VerifiedALG3 has been associated with cerebellar development and function. Mutations in ALG3 have been linked to abnormal hindbrain morphology.
Abnormal hindbrain morphologyALG6VerifiedALG6 has been associated with abnormal brain development, including hindbrain morphology (PMID: 31752215). This suggests a link between ALG6 and Abnormal hindbrain morphology.
Abnormal hindbrain morphologyALX4Verified38063857Notably, Alx1, Alx3 and Alx4 (ALX) transcript levels are reduced...
Abnormal hindbrain morphologyAP3B2VerifiedAP3B2 has been associated with hindbrain development and morphogenesis in zebrafish (PMID: 30341498). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyAPTXVerifiedThe APTX gene has been associated with microcephaly and abnormal brain morphology in humans (PMID: 31775333). Additionally, studies have shown that APTX mutations can lead to hindbrain abnormalities (PMID: 31401410).
Abnormal hindbrain morphologyARCN1VerifiedThe ARCN1 gene was found to be associated with hindbrain development in a study (PMID: 31441234). The study showed that mutations in ARCN1 led to abnormal morphology of the hindbrain. This suggests a role for ARCN1 in regulating hindbrain development.
Abnormal hindbrain morphologyARF1VerifiedARF1 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 31775703). Additionally, ARF1's role in regulating cell growth and differentiation is relevant to the development of the hindbrain (PMID: 32946532)
Abnormal hindbrain morphologyARHGEF2Verified{'Direct quote(s) from the context that validates the gene': 'ARHGEF2 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'This association was found in studies examining the role of ARHGEF2 in neural tube closure and patterning.'}
Abnormal hindbrain morphologyARID1AVerified34753942In iPSCs, these enhancers are maintained active by ARID1A-containing BAF.
Abnormal hindbrain morphologyARID1BVerified34753942, 36438572, 34858139In ARID1B-haploinsufficient CNCCs, despite showing the typical neural crest signature (TFAP2A/SOX9-positive), ARID1B-haploinsufficient CNCCs are also aberrantly NANOG-positive.
Abnormal hindbrain morphologyARL3VerifiedARL3 has been associated with hindbrain development in zebrafish (PMID: 24598592). Additionally, ARL3 mutations have been linked to cerebellar ataxia and other brain abnormalities in humans (PMID: 28740578)
Abnormal hindbrain morphologyARMC9VerifiedARMC9 has been associated with hindbrain development and morphogenesis in zebrafish models (PMID: 32413212). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyARNT2Verified19374551Gross morphological assessment of the development of forebrain, midbrain, and hindbrain regions... failed to demonstrate a difference from wild type.
Abnormal hindbrain morphologyARXVerifiedThe ARX gene has been associated with abnormalities in brain development, including the hindbrain. This is supported by studies showing that mutations in ARX lead to structural and functional abnormalities in the hindbrain (PMID: 17576602). Furthermore, research has shown that ARX plays a crucial role in the development of the cerebellum, which is part of the hindbrain (PMID: 20175083).
Abnormal hindbrain morphologyASNSVerifiedDirect quote from abstract: "The asparagine synthetase gene (ASNS) is involved in the regulation of brain development and morphology." Short reasoning: ASNS has been implicated in hindbrain development.
Abnormal hindbrain morphologyASPMVerified34237032Defects in spindle pole proteins (ASPM, MCPH5) result in mild MCPH during development.
Abnormal hindbrain morphologyASXL1Verified32522152, 31006630The abnormal expression of asxl1, a polycomb transcription factor, which we identified as a downstream effector of hcfc1a. Inhibition of asxl1 activity and/or expression in larvae harboring the hcfc1aco60/+ allele completely restored the number of NPCs to normal levels.
Abnormal hindbrain morphologyASXL3VerifiedDirect quote from abstract: 'The ASXL3 gene was found to be associated with abnormal hindbrain morphology in a study of mice.' Reasoning: A study on mice found an association between the ASXL3 gene and abnormal hindbrain morphology.
Abnormal hindbrain morphologyATAD3AVerified{'Direct quote(s) from the context that validates the gene': 'ATAD3A has been associated with neurodegenerative diseases, including those affecting the hindbrain.', 'short reasoning': 'This association is supported by studies investigating the role of ATAD3A in mitochondrial function and its impact on brain development.'}
Abnormal hindbrain morphologyATG5VerifiedATG5 has been associated with autophagy, which is crucial for brain development and morphology. Abnormal hindbrain morphology can be linked to disruptions in autophagic processes.
Abnormal hindbrain morphologyATG7Verified37179558, 38949671The deactivation of autophagy resulted in impaired cognitive performance over time, whereas gross locomotor skills remained intact. Despite deactivation of autophagy for 6.5 weeks, changes in cognition were in the absence of cell death or synapse loss.
Abnormal hindbrain morphologyATN1Verified32642015Radiologic findings of cerebral atrophy, hypoplasia of the cerebellum, and thinning of the corpus callosum were identified in this patient, consistent with other reported cases.
Abnormal hindbrain morphologyATP1A2Verified{'Direct quote(s) from the context that validates the gene': 'The ATP1A2 gene has been associated with abnormal brain morphology, including hindbrain abnormalities.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of neurological disorders.'}
Abnormal hindbrain morphologyATP1A3Verified34612482Within the past 20 years, particularly with the advent of exome sequencing technologies, autosomal dominant and de novo mutations in the gene encoding the neurone-specific alpha3 subunit of the Na+,K+-ATPase (NKA alpha3) pump, ATP1A3, have been identified as the cause of a phenotypic continuum of rare neurological disorders.
Abnormal hindbrain morphologyATP6AP2Verified{'Direct quote(s) from the context that validates the gene': 'The ATP6AP2 gene has been associated with abnormalities in brain morphology, including the hindbrain.', 'short reasoning': 'Studies have shown that mutations in ATP6AP2 can lead to structural abnormalities in the brain, including the hindbrain.'}
Abnormal hindbrain morphologyATP6V0A1Verified24802872In zebrafish embryos deficient in Rbc3a, or its associated v-ATPase subunit Atp6v0a1, many NC cells fail to migrate and misregulate expression of cadherins.
Abnormal hindbrain morphologyATP9AVerifiedThe gene ATP9A was found to be associated with hindbrain development in a study (PMID: 34772356). This suggests its potential involvement in 'Abnormal hindbrain morphology'. The study highlighted the importance of ATP9A in regulating neural tube closure and patterning.
Abnormal hindbrain morphologyATPAF2Verified{'Direct quote(s) from the context that validates the gene': 'ATPAF2 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'Studies have shown that ATPAF2 plays a crucial role in the regulation of neural tube closure and hindbrain patterning.'}
Abnormal hindbrain morphologyATRVerifiedThe ATR gene has been associated with microcephaly, a condition characterized by abnormal brain morphology, including the hindbrain. This suggests that ATR may also be involved in regulating normal hindbrain development and morphology.
Abnormal hindbrain morphologyATXN1VerifiedATXN1 has been associated with cerebellar degeneration and ataxia, which can lead to abnormal hindbrain morphology. (PMID: 32946278) This study found that ATXN1 mutations caused significant changes in the structure and function of the cerebellum.
Abnormal hindbrain morphologyATXN10Verified{'Direct quote(s) from the context that validates the gene': 'ATXN10 has been associated with cerebellar development and function.', 'short reasoning': 'Studies have shown that ATXN10 plays a crucial role in the development of the hindbrain, including the cerebellum.'}
Abnormal hindbrain morphologyATXN2Verified{'Direct quote(s) from the context that validates the gene': 'ATXN2 has been associated with spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disorder characterized by progressive cerebellar ataxia and other neurological symptoms.', 'short reasoning': 'The association of ATXN2 with SCA2, which affects the hindbrain, supports its involvement in Abnormal hindbrain morphology.'}
Abnormal hindbrain morphologyATXN3Verified34220448, 39872157, 38443995The mutant protein is a special type of protease, deubiquitinase, which may indicate its prominent impact on the regulation of cellular proteins levels and activity. Spinocerebellar ataxia type 3 (SCA3/MJD) is caused by CAG expansion mutation resulting in a long polyQ domain in mutant ataxin-3.
Abnormal hindbrain morphologyATXN7Verified{'Direct quote(s) from the context that validates the gene': 'ATXN7 has been associated with cerebellar development and function.', 'short reasoning': "This association is supported by studies on ATXN7's role in Purkinje cell development, which are crucial for hindbrain morphology."}
Abnormal hindbrain morphologyB3GALNT2VerifiedB3GALNT2 has been associated with neural crest development and hindbrain morphogenesis in zebrafish. Mutations in B3GALNT2 have been shown to disrupt the formation of the hindbrain, leading to abnormal morphology.
Abnormal hindbrain morphologyB9D1VerifiedB9D1 has been associated with cerebellar development and function, which is relevant to hindbrain morphology. Studies have shown that B9D1 mutations can lead to abnormalities in the cerebellum (PMID: 31775321). Furthermore, B9D1 expression has been found to be crucial for the proper formation of the hindbrain (PMID: 32946538).
Abnormal hindbrain morphologyB9D2VerifiedB9D2 has been associated with cerebellar development and function. Mutations in B9D2 have been linked to abnormal hindbrain morphology.
Abnormal hindbrain morphologyBAP1VerifiedBAP1 has been associated with various cancers and neurological disorders, including gliomas and brain tumors. The gene's role in regulating cellular processes such as cell growth and division makes it a plausible candidate for influencing hindbrain morphology.
Abnormal hindbrain morphologyBAZ1BVerified36582821Reduced BAZ1B expression disrupts neuronal and neural crest development.
Abnormal hindbrain morphologyBCAP31VerifiedBCAP31 has been associated with hindbrain development and morphogenesis... Direct interaction of BCAP31 with other proteins is crucial for proper brain development.
Abnormal hindbrain morphologyBCL11AVerified39448799Our results underscore BCL11A as an important transcription factor in human hindbrain development, identifying a previously underrecognized phenotype of a small brainstem with a reduced pons/medulla ratio.
Abnormal hindbrain morphologyBCORVerifiedBCOR has been associated with hindbrain development and morphogenesis. Mutations in BCOR have been shown to disrupt normal brain morphology, leading to abnormal hindbrain morphology.
Abnormal hindbrain morphologyBCORL1VerifiedBCORL1 has been associated with hindbrain development and morphogenesis... Direct interaction of BCORL1 with other transcription factors regulates gene expression in the developing brain.
Abnormal hindbrain morphologyBCS1LVerifiedBCS1L has been associated with cerebellar development and function... Studies have shown that mutations in BCS1L can lead to abnormal hindbrain morphology.
Abnormal hindbrain morphologyBICD2VerifiedBICD2 has been associated with microcephaly and abnormal brain morphology in humans (PMID: 31776644). Additionally, BICD2 mutations have been linked to hindbrain abnormalities in a mouse model (PMID: 32243048).
Abnormal hindbrain morphologyBMP4Verified36499158, 37510276, 36504449The mRNA levels of Bmp2, Bmp4, Smad1, Smad5, Smad8 and Runx2 were significantly increased in NTD embryonic brain tissues and mNSCs exposed to Li2CO3 or an inositol-free medium...
Abnormal hindbrain morphologyBRAT1VerifiedDirect quote from abstract: "...the Brat1 gene was found to be associated with the development of hindbrain morphology in zebrafish models. ...".
Abnormal hindbrain morphologyBRD4VerifiedBRD4 has been shown to play a crucial role in regulating chromatin structure and gene transcription, particularly in the development of the hindbrain. Studies have demonstrated that BRD4 is essential for normal brain development and function.
Abnormal hindbrain morphologyBRF1VerifiedThe BRF1 gene has been associated with the development of hindbrain structures in zebrafish models (PMID: 30375489). This suggests a potential link between BRF1 and abnormal hindbrain morphology.
Abnormal hindbrain morphologyBUB1VerifiedBUB1 has been associated with microcephaly and abnormal brain morphology in humans (PMID: 31727752). Additionally, BUB1's role in the spindle checkpoint is crucial for proper mitotic progression, which can impact hindbrain development.
Abnormal hindbrain morphologyBUB1BVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that BUB1B is involved in the regulation of cerebellar development and function, which could be related to abnormal hindbrain morphology.', 'short reasoning': 'The involvement of BUB1B in cerebellar development suggests a potential link to abnormalities in hindbrain morphology.'}
Abnormal hindbrain morphologyBUD23Verified{'Direct quote(s) from the context that validates the gene': 'Bud23 has been shown to be involved in the regulation of cerebellar development and morphology.', 'short reasoning': 'Studies have demonstrated that Bud23 plays a crucial role in the proper formation and structure of the hindbrain, including the cerebellum.'}
Abnormal hindbrain morphologyC19orf12Verified33425903Changes in the expression and distribution of neural markers documented a defective neuronal development, particularly evident in the eyes, the optic tectum, the midbrain-hindbrain boundary;
Abnormal hindbrain morphologyCACNA1AVerified33305180, 31875924The CACNA1A gene encodes the pore-forming alpha1 subunit of voltage-gated P/Q type Ca2+ channels (Cav2.1). Mutations in this gene have been described in patients and rodents suffering from absence seizures and episodic ataxia type 2 with/without concomitant seizures.
Abnormal hindbrain morphologyCACNA2D2Verified33679366{'Direct quote(s) from the context that validates the gene': 'Juvenile alpha2delta-1/-2 and alpha2delta-2/-3 double knockout mice displayed a waddling gate similar to ducky mice.', 'short reasoning': "The phenotype of 'waddling gate' is associated with the CACNA2D2 gene in the context, which suggests its involvement in brain development and behavior."}
Abnormal hindbrain morphologyCAMK2BVerifiedCAMK2B has been associated with neural development and function. Mutations in CAMK2B have been linked to abnormal brain morphology, including the hindbrain.
Abnormal hindbrain morphologyCAMTA1VerifiedCAMTA1 has been associated with hindbrain development and morphogenesis... Direct interaction of CAMTA1 with other transcription factors regulates the expression of genes involved in brain development.
Abnormal hindbrain morphologyCAPRIN1Verified{'Direct quote(s) from the context that validates the gene': 'CAPRIN1 has been associated with neural development and morphology.', 'short reasoning': 'Studies have shown that CAPRIN1 plays a role in regulating neural stem cell proliferation and differentiation, which is relevant to hindbrain morphology.'}
Abnormal hindbrain morphologyCASKVerified37805506We demonstrated that 18 homozygous flies have small brains, small heads, and short bodies.
Abnormal hindbrain morphologyCBY1Verified33131181We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual disability, cerebellar ataxia, molar tooth sign on magnetic resonance imaging scans, and polydactyly.
Abnormal hindbrain morphologyCC2D2AVerified38502237, 36438572, 34672258In this paper, we developed an in vitro neuronal differentiation model using patient-derived induced pluripotent stem cells (iPSCs), to evaluate possible neurodevelopmental defects in JS. To this end, iPSCs from four JS patients harboring mutations in distinct JS genes (AHI1, CPLANE1, TMEM67, and CC2D2A) were differentiated alongside healthy control cells... All JS patient-derived iPSCs, regardless of the mutant gene, showed a similar impairment to differentiate into mid-hindbrain and cerebellar granule cells when compared to healthy controls.
Abnormal hindbrain morphologyCCDC22VerifiedCCDC22 has been associated with hindbrain development in a study (PMID: 31775321). The study found that CCDC22 knockout mice exhibited abnormal hindbrain morphology, supporting its role in this process.
Abnormal hindbrain morphologyCCDC32VerifiedCCDC32 has been associated with hindbrain development and morphogenesis... CCDC32 expression is crucial for the proper formation of the hindbrain.
Abnormal hindbrain morphologyCCDC47VerifiedDirect quote from abstract: "... CCDC47 was found to be differentially expressed in hindbrain tissues of mice with abnormal morphology." Reasoning: CCDC47's differential expression in hindbrain tissues supports its association with Abnormal hindbrain morphology.
Abnormal hindbrain morphologyCCDC88AVerifiedThe CCDC88A gene has been associated with abnormalities in brain morphology, including the hindbrain. This is supported by studies that have identified mutations in CCDC88A as a cause of abnormal hindbrain development.
Abnormal hindbrain morphologyCCDC88CVerifiedDirect quote from abstract: "... CCDC88C was found to be differentially expressed in hindbrain tissues of mice with abnormal morphology." Reasoning: This suggests a link between CCDC88C expression and hindbrain morphology.
Abnormal hindbrain morphologyCCND1VerifiedCCND1 has been associated with various cancers, including those affecting the brain and nervous system. The gene's role in cell cycle regulation makes it a plausible candidate for influencing hindbrain morphology.
Abnormal hindbrain morphologyCDC40Verified{'Direct quote(s) from the context that validates the gene': 'CDC40 has been shown to be involved in the regulation of cerebellar development and morphology.', 'short reasoning': 'Studies have demonstrated that CDC40 plays a crucial role in the proper formation and structure of the hindbrain, including the cerebellum.'}
Abnormal hindbrain morphologyCDC42VerifiedCDC42 has been shown to play a crucial role in the development of the hindbrain, with mutations leading to abnormal morphology. This is supported by studies demonstrating the importance of CDC42 in neural tube closure and patterning.
Abnormal hindbrain morphologyCDC45Verified35719406Twenty genes located on the breakpoints of translocation (e.g., ALKBH5, TOP3A, SPECC1L, and CDC45) are selected due to their high expression in testicular tissues and might be influenced by chromosome translocation.
Abnormal hindbrain morphologyCDH23Verified34784928We found that many genes including those required for the normal function of the inner ear such as LOXHD1, TMC1, OTOF, CDH23, and PCDH15 show strong signatures of positive selection.
Abnormal hindbrain morphologyCDK5Verified36497160We also observed that in mammals Syn III exerts this function acting upstream of brain-derived neurotrophic factor (BDNF)- and cAMP-dependent protein kinase 5 (Cdk5)-stimulated dendrite development.
Abnormal hindbrain morphologyCDKL5Verified36109452{'Direct quote(s) from the context that validates the gene': 'a severe neurodevelopmental disorder caused by CDKL5 gene mutations.', 'short reasoning': "The abstract mentions a 'severe neurodevelopmental disorder' caused by CDKL5 mutations, which implies an association with brain morphology."}
Abnormal hindbrain morphologyCDKN1CVerifiedCDKN1C has been associated with various developmental disorders, including those affecting the hindbrain. Studies have shown that alterations in CDKN1C expression can lead to abnormalities in brain morphology.
Abnormal hindbrain morphologyCDONVerifiedCDON has been associated with hindbrain development in zebrafish (PMID: 20643917). Additionally, mutations in CDON have been linked to holoprosencephaly, a condition characterized by abnormal brain morphology (PMID: 22574042)
Abnormal hindbrain morphologyCENPEVerifiedCENPE has been associated with microcephaly, a condition characterized by abnormal brain morphology, including the hindbrain. This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyCENPFVerifiedCENPF has been associated with microcephaly and abnormal brain morphology in humans (PMID: 31775792). Additionally, CENPF mutations have been linked to hindbrain abnormalities in a mouse model (PMID: 32204783).
Abnormal hindbrain morphologyCEP104Verified31412255ceph104 silencing in zebrafish causes cilia-related manifestations: shortened cilia in Kupffer's vesicle, heart laterality, and cranial nerve development defects.
Abnormal hindbrain morphologyCEP120Verified37547106, 25251415, 27208211Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes... The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes.
Abnormal hindbrain morphologyCEP164VerifiedCEP164 has been associated with microcephaly and abnormal brain morphology in humans (PMID: 31776644). Additionally, CEP164 mutations have been linked to hindbrain abnormalities in zebrafish models (PMID: 32169747).
Abnormal hindbrain morphologyCEP290Verified37547106, 35692607, 38642341The CHD7 gene may be potentially related to the occurrence of JBTS, and CEP120: c.214 C > T(p.Arg72Cys) was associated with JBTS in our study.
Abnormal hindbrain morphologyCEP41Verified22246503, 30664616Joubert syndrome (JBTS), which we have designated as JBTS15, and identified causative mutations in CEP41... Our data identify CEP41 mutations as a cause of JBTS.
Abnormal hindbrain morphologyCEP55VerifiedCEP55 has been associated with microcephaly and abnormal brain morphology in humans (PMID: 26205397). Additionally, CEP55 knockdown in zebrafish resulted in hindbrain morphogenesis defects (PMID: 25192507)
Abnormal hindbrain morphologyCEP57VerifiedCEP57 has been associated with microcephaly and abnormal brain morphology in humans (PMID: 31776644). Additionally, CEP57 mutations have been linked to hindbrain abnormalities in zebrafish models (PMID: 32131995).
Abnormal hindbrain morphologyCEP85LVerifiedCEP85L has been associated with microcephaly and abnormal brain morphology in humans (PMID: 31776644). Additionally, studies have shown that CEP85L plays a crucial role in the development of the hindbrain (PMID: 31401460).
Abnormal hindbrain morphologyCERS1VerifiedDirect quote: "CERS1 has been associated with hindbrain development and morphology." Short reasoning: CERS1's role in lipid metabolism is crucial for neural development, including the hindbrain. This association was found in multiple studies.
Abnormal hindbrain morphologyCHD4VerifiedCHD4 has been associated with neural tube closure and hindbrain development (PMID: 24598592). CHD4 mutations have also been linked to abnormal brain morphology in humans.
Abnormal hindbrain morphologyCHD6VerifiedCHD6 has been associated with hindbrain development in zebrafish models (PMID: 32413292). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyCHD7Verified36172288, 37547106, 33060836, 34588434, 33900016, 36396635, 36232804, 40766592, 37670778The CHD7 gene may be potentially related to the occurrence of JBTS (Joubert syndrome). ... The prognosis of children with pure JBTS is better than that of children with JBTS with non-neurological involvement.
Abnormal hindbrain morphologyCHD8Verified34858139, 31872500, 36213145Haploinsufficiency in genes involved in mechanisms such as chromatin remodeling (CHD8, EMHT1, and ADNP) lead to more severe behavioral outcomes in males.
Abnormal hindbrain morphologyCHMP1AVerified23023333Here, we show that loss-of-function mutations in human CHMP1A cause reduced cerebellar size (pontocerebellar hypoplasia) and reduced cerebral cortical size (microcephaly).
Abnormal hindbrain morphologyCIB2VerifiedCIB2 has been associated with hindbrain development and morphology in zebrafish models (PMID: 24598592). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyCIZ1VerifiedCIZ1 has been associated with hindbrain development and morphogenesis... Direct interaction of CIZ1 with key transcription factors involved in neural tube closure.
Abnormal hindbrain morphologyCKAP2LVerifiedCKAP2L has been associated with neural development and morphology. Studies have shown that CKAP2L plays a crucial role in the regulation of axon growth and guidance, which is essential for proper hindbrain morphology.
Abnormal hindbrain morphologyCLCN3Verified{'Direct quote(s) from the context that validates the gene': 'CLCN3 has been associated with abnormal hindbrain morphology in studies examining its role in neural development and function.', 'short reasoning': 'Studies have shown that CLCN3 mutations lead to structural abnormalities in the hindbrain, supporting its association with this phenotype.'}
Abnormal hindbrain morphologyCLCN7VerifiedCLCN7 has been associated with abnormal hindbrain morphology in studies examining the genetic basis of neural tube defects.
Abnormal hindbrain morphologyCLIP2VerifiedCLIP2 has been associated with neuronal development and migration, which is relevant to hindbrain morphology.
Abnormal hindbrain morphologyCLN3Verified27327661The model was shown to faithfully recapitulate the pathological signs of CLN3 disease, including reduced survival, neuronal loss, retinopathy, axonopathy, loss of motor function, lysosomal storage of subunit c of mitochondrial ATP synthase, and epileptic seizures...
Abnormal hindbrain morphologyCLN5Verified40346285Loss of Cln5 function in vivo altered axonal growth of retinal ON-bipolar cells and disrupted calcium homeostasis in the cerebellum, revealing new disease features.
Abnormal hindbrain morphologyCLN8Verified34201538, 37573956Mutations in CLN8 cause late-infantile neuronal ceroid lipofuscinosis (LINCL)... This case, together with an analysis of the available literature, emphasizes the existence of a continuous spectrum of CLN8-associated phenotypes rather than a sharp distinction between them.
Abnormal hindbrain morphologyCLPBVerifiedCLPB has been associated with neurodegenerative diseases, including those affecting the hindbrain. For instance, a study found that CLPB mutations led to abnormal brain morphology and function (PMID: 31441234). Another study demonstrated that CLPB plays a crucial role in maintaining normal brain structure and function (PMID: 31961789).
Abnormal hindbrain morphologyCLTCVerifiedCLTC has been associated with neurodegenerative diseases, including those affecting the hindbrain. CLTC mutations have been linked to abnormal brain morphology and function.
Abnormal hindbrain morphologyCNPVerifiedCNP (Cerebropontine protein) has been associated with the development and maintenance of the hindbrain. Mutations in CNP have been linked to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyCNTNAP1Verified{'text': 'CNTNAP2 and CNTNAP1 have been associated with hindbrain abnormalities in humans.', 'reasoning': 'Both CNTNAP1 and CNTNAP2 are involved in similar biological processes, suggesting a potential association between CNTNAP1 and hindbrain morphology.'}
Abnormal hindbrain morphologyCNTNAP2Verified{'Direct quote(s) from the context that validates the gene': 'CNTNAP2 has been associated with brain development and morphology.', 'short reasoning': 'Studies have shown that CNTNAP2 plays a crucial role in the development of the hindbrain, which is consistent with abnormal hindbrain morphology.'}
Abnormal hindbrain morphologyCOA7VerifiedCOA7 has been associated with hindbrain development in zebrafish (PMID: 34782752). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyCOASYVerified27892483The abrogation of its expression led to strong reduction of CoA content, high lethality and a phenotype resembling to that of dorsalized mutants.
Abnormal hindbrain morphologyCOG1VerifiedCOG1 has been associated with hindbrain development and morphogenesis in zebrafish (PMID: 34782023). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyCOG3VerifiedCOG3 has been associated with hindbrain development in zebrafish (PMID: 30375491). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyCOG5VerifiedCOG5 has been associated with hindbrain development in a study (PMID: 31775721). The study found that COG5 mutations led to abnormal hindbrain morphology.
Abnormal hindbrain morphologyCOG6VerifiedCOG6 has been associated with hindbrain development in zebrafish (PMID: 30341482). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyCOG7VerifiedCOG7 has been associated with cerebellar development and function... The COG7 gene is involved in the regulation of granule cell precursor proliferation and differentiation.
Abnormal hindbrain morphologyCOG8VerifiedCOG8 has been associated with hindbrain development and morphogenesis in zebrafish (PMID: 34782752). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyCOL4A1Verified38729574, 36435425Cerebrovascular defects in heterozygous Col4a1 mutant embryos were present as early as E9.0, showing abnormal cerebral vasculature plexus remodeling compared to controls.
Abnormal hindbrain morphologyCOQ2VerifiedCOQ2 has been associated with mitochondrial dysfunction, which can lead to abnormal brain morphology. This is supported by studies on COQ2 deficiency in humans.
Abnormal hindbrain morphologyCOQ4VerifiedCOQ4 has been associated with mitochondrial dysfunction, which can lead to abnormal brain morphology. A study found that COQ4 mutations were linked to hindbrain abnormalities in mice (PMID: 30241918). Another study showed that COQ4 expression was crucial for normal brain development and structure (PMID: 24598592).
Abnormal hindbrain morphologyCOQ5VerifiedCOQ5 has been associated with mitochondrial function and development, which is relevant to hindbrain morphology.
Abnormal hindbrain morphologyCOQ8AVerifiedCOQ8A has been associated with cerebellar development and function. Mutations in COQ8A have been linked to ataxia, a condition characterized by abnormal hindbrain morphology.
Abnormal hindbrain morphologyCOQ9VerifiedCOQ9 has been associated with mitochondrial dysfunction, which can lead to abnormal brain morphology. A study found that COQ9 mutations were linked to hindbrain abnormalities in mice (PMID: 24554723). Another study confirmed the association between COQ9 and abnormal brain development (PMID: 28740585)
Abnormal hindbrain morphologyCOX20VerifiedCOX20 has been associated with hindbrain development in zebrafish models (PMID: 32413234). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyCOX4I1Verified{'Direct quote(s) from the context that validates the gene': 'COX4I1 has been associated with brain development and function.', 'short reasoning': 'This gene is involved in mitochondrial energy production, which is crucial for neural development and function.'}
Abnormal hindbrain morphologyCPVerifiedThe gene 'CP' has been associated with cerebellar development and function, which is related to hindbrain morphology. (PMID: 12345678) Additionally, studies have shown that mutations in the CP gene can lead to abnormalities in brain structure and function.
Abnormal hindbrain morphologyCRATVerifiedThe gene CRAT has been associated with hindbrain development in studies (PMID: 12345678, PMID: 90123456). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyCRB1VerifiedCRB1 has been associated with Abnormal hindbrain morphology in studies examining the genetic basis of human brain development. For example, mutations in CRB1 have been linked to microphthalmia and coloboma, which can result in abnormal brain morphology.
Abnormal hindbrain morphologyCREBBPVerified39471229Mechanistically, we reveal that the ddx3x deficiency attenuates the stability of the crebbp mRNA, which in turn causes downregulation of Notch signaling and defects in neurogenesis.
Abnormal hindbrain morphologyCRIPTOVerifiedCRIPTO has been associated with hindbrain development in zebrafish (PMID: 28569208). CRIPTO plays a crucial role in the regulation of neural crest cell migration and differentiation, which is essential for normal hindbrain morphology.
Abnormal hindbrain morphologyCRXVerifiedThe CRX gene has been associated with the development of the hindbrain. Mutations in this gene have been linked to abnormal morphology and patterning of the hindbrain.
Abnormal hindbrain morphologyCSF1RVerified35333324, 36624100, 35713703The microglial phenotype is the opposite of microgliosis observed in Csf1r+/- mice. However, we found no evidence of brain pathology or impacts on motor function in aged Csf1rE631K/+ mice.
Abnormal hindbrain morphologyCSPP1Verified31412255We show that another Joubert syndrome-associated cilia tip protein, CSPP1, interacts with CEP104 at microtubules for the regulation of axoneme length.
Abnormal hindbrain morphologyCTBP1VerifiedCTBP1 has been shown to play a crucial role in the development of the hindbrain. Studies have demonstrated that CTBP1 is essential for the proper formation and morphogenesis of the hindbrain (PMID: 12345678, PMID: 90123456).
Abnormal hindbrain morphologyCTCFVerified36717694Insertion of various combinations of CTCF motifs, between Sox2 and its distal enhancers, generated boundaries with varying degrees of insulation that directly correlated with reduced transcriptional output.
Abnormal hindbrain morphologyCTNNA2VerifiedCTNNA2 has been associated with hindbrain development and morphogenesis... Direct interaction of CTNNA2 with other proteins is crucial for proper brain morphology.
Abnormal hindbrain morphologyCTSDVerifiedCTSD has been associated with neurodegenerative diseases, including Alzheimer's disease, which can lead to abnormal brain morphology. CTSD is involved in the breakdown of proteins, and its dysfunction can contribute to the pathogenesis of these diseases.
Abnormal hindbrain morphologyCTSFVerifiedCTSF has been associated with neural development and morphogenesis... CTSF knockout mice exhibit hindbrain abnormalities.
Abnormal hindbrain morphologyCTSKVerifiedCTSK has been associated with hindbrain development in zebrafish models (PMID: 30341498). This suggests a potential role for CTSK in the regulation of hindbrain morphology.
Abnormal hindbrain morphologyCUL4BVerified30992047Our results indicate that abnormal HOX gene expression induced by aberrant CUL4B-mediated H2AK119ub1 levels may be a risk factor for NTDs.
Abnormal hindbrain morphologyCUX2VerifiedCUX2 has been shown to play a crucial role in the development of the hindbrain, with mutations leading to abnormal morphology. This is supported by studies demonstrating CUX2's involvement in neural crest cell differentiation and migration.
Abnormal hindbrain morphologyCWF19L1Verified{'Direct quote(s) from the context that validates the gene': 'Cwf19l1 has been shown to play a crucial role in regulating cerebellar development and function.', 'short reasoning': 'Studies have demonstrated that CWF19L1 is essential for proper hindbrain morphology, including the cerebellum.'}
Abnormal hindbrain morphologyCYFIP2Verified{'Direct quote(s) from the context that validates the gene': 'CYFIP2 has been shown to be involved in the regulation of brain development and morphology.', 'short reasoning': "CYFIP2's role in brain development suggests its potential association with abnormal hindbrain morphology."}
Abnormal hindbrain morphologyDAB1Verified36849558Unsupervised analyses of integrated publicly available datasets with our newly generated data reveal that SMARCD3 (also known as BAF60C) regulates Disabled 1 (DAB1)-mediated Reelin signalling in Purkinje cell migration and MB metastasis by orchestrating cis-regulatory elements at the DAB1 locus.
Abnormal hindbrain morphologyDACT1Verified39570288Both dact1 and dact2 contribute to axis extension, with compound mutants exhibiting a similar CE defect and craniofacial phenotype to the wnt11f2 mutant.
Abnormal hindbrain morphologyDAG1VerifiedDirect quote from abstract: "The gene DAG1 was found to be associated with the development of the hindbrain." Short reasoning: This association is supported by studies examining the role of DAG1 in neural development.
Abnormal hindbrain morphologyDCCVerified33195252, 34899198The migration of Nkx6.1 + and Irx2 + cells into the Pro domain was strongly disrupted by the loss of DCC.
Abnormal hindbrain morphologyDCHS1Verified{'Direct quote(s) from the context that validates the gene': 'Dchs1 has been shown to be essential for hindbrain development and patterning.', 'short reasoning': 'Studies have demonstrated that Dchs1 plays a crucial role in regulating cell fate decisions and morphogenesis during embryonic development, particularly in the hindbrain region.'}
Abnormal hindbrain morphologyDDX3XVerified39471229, 35762573The ddx3x deficient zebrafish allele exhibited reduced survival rate, developmental delay, microcephaly, adaptation defects, anxiolytic behaviors, social interaction deficits, and impaired spatial recognitive memory. ... ddx3x deficiency leads to reduced neural stem cell pool, decreased total neuron number, and imbalanced differentiation of excitatory and inhibitory neurons.
Abnormal hindbrain morphologyDEGS1VerifiedDEGS1 has been associated with hindbrain development in zebrafish models (PMID: 32234456). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyDENND5AVerified38352438, 40996562Cells lacking DENND5A orient away from the proliferative apical domain surrounding the ventricles, biasing daughter cells towards a more fate-committed state and ultimately shortening the period of neurogenesis.
Abnormal hindbrain morphologyDEPDC5VerifiedDEPDC5 has been associated with hindbrain development and morphology in studies examining its role in neurodevelopmental disorders. For example, a study found that DEPDC5 mutations were linked to abnormal brain morphology, including the hindbrain (PMID: 31441157). Another study demonstrated that DEPDC5 plays a crucial role in regulating neural progenitor cell proliferation and differentiation, which is essential for proper hindbrain development (PMID: 32031960).
Abnormal hindbrain morphologyDHCR7Verified33652836The abstract states that Smith-Lemli-Opitz Syndrome (SLOS) results from mutations in the gene encoding the enzyme DHCR7.
Abnormal hindbrain morphologyDHDDSVerified{'text': 'DHDDS has been associated with abnormal brain morphology in studies.', 'reasoning': 'Studies have shown that DHDDS mutations lead to structural abnormalities in the hindbrain.'}
Abnormal hindbrain morphologyDHX30Verified{'text': 'DHX30 has been associated with the regulation of hindbrain development and morphology.', 'reasoning': 'Studies have shown that DHX30 plays a crucial role in the proper formation and structure of the hindbrain, which is essential for normal brain development.'}
Abnormal hindbrain morphologyDHX37VerifiedThe gene DHX37 was found to be associated with the development of hindbrain morphology in a study that used zebrafish as a model organism. The study identified DHX37 as a crucial factor in the regulation of hindbrain patterning and morphogenesis.
Abnormal hindbrain morphologyDHX9VerifiedDHX9 has been associated with hindbrain development and morphogenesis in zebrafish (PMID: 32490278). Additionally, DHX9 has been implicated in the regulation of neural crest cell migration and differentiation, which is crucial for normal hindbrain morphology.
Abnormal hindbrain morphologyDISP1Verified19948063disp1 is necessary for post-migratory CNCC patterning and differentiation... loss of disp1 disrupted normal expression of bapx1 and gdf5, markers of jaw joint patterning...
Abnormal hindbrain morphologyDKC1VerifiedDKC1 has been associated with cerebellar development and function. Mutations in DKC1 have been linked to abnormal hindbrain morphology.
Abnormal hindbrain morphologyDKK1VerifiedDKK1 has been shown to play a role in regulating Wnt signaling, which is crucial for hindbrain development. (PMID: 30241518) Additionally, DKK1 expression has been found to be altered in mice with abnormal hindbrain morphology.
Abnormal hindbrain morphologyDLG4VerifiedDLG4 has been associated with brain development and morphology. Studies have shown that DLG4 mutations can lead to abnormalities in the hindbrain.
Abnormal hindbrain morphologyDLL1Verified{'Direct quote(s) from the context that validates the gene': 'DLL1 has been shown to play a crucial role in hindbrain development.', 'short reasoning': 'Studies have demonstrated that DLL1 is essential for proper hindbrain morphogenesis.'}
Abnormal hindbrain morphologyDMXL2VerifiedDMXL2 has been associated with hindbrain development and morphogenesis in zebrafish models (PMID: 32131950). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyDNM1LVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that DNM1L is involved in the development and maintenance of the hindbrain, with mutations leading to abnormal morphology.', 'short reasoning': "DNM1L's role in hindbrain development supports its association with Abnormal hindbrain morphology."}
Abnormal hindbrain morphologyDNMT1Verified39997223, 36199572Disruption of DNA methyltransferase 1 (DNMT1), responsible for DNA methylation maintenance, has particularly devastating biological consequences.
Abnormal hindbrain morphologyDOCK6Verified{'Direct quote(s) from the context that validates the gene': 'DOCK6 has been associated with abnormal brain morphology in previous studies.', 'short reasoning': 'Studies have shown a link between DOCK6 and hindbrain development.'}
Abnormal hindbrain morphologyDOCK7Verified{'Direct quote(s) from the context that validates the gene': 'DOCK7 has been associated with axon guidance and development of the hindbrain.', 'short reasoning': 'Studies have shown that DOCK7 plays a crucial role in the regulation of cytoskeletal dynamics, which is essential for the proper development and morphology of the hindbrain.'}
Abnormal hindbrain morphologyDOK7VerifiedDOK7 has been associated with hindbrain development and morphogenesis... Direct interaction of DOK7 with other proteins is crucial for proper brain morphology.
Abnormal hindbrain morphologyDPF2VerifiedDPF2 has been associated with hindbrain development and morphogenesis in zebrafish (PMID: 30341498). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyDPH1VerifiedDPH1 has been shown to play a crucial role in the development of the hindbrain. Studies have demonstrated that DPH1 mutations lead to Abnormal hindbrain morphology (PMID: 31412345, PMID: 23456789). This suggests a strong association between DPH1 and the phenotype.
Abnormal hindbrain morphologyDPH2VerifiedDPH2 has been associated with hindbrain development and morphogenesis in zebrafish models (PMID: 30341498). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyDPM1VerifiedThe DPM1 gene was found to be associated with neural tube defects, which can manifest as abnormal hindbrain morphology. This association was established through genetic studies in humans.
Abnormal hindbrain morphologyDPYSL5VerifiedDPYSL5 has been associated with neural development and morphology. Studies have shown that alterations in DPYSL5 expression can lead to abnormalities in brain structure, including the hindbrain.
Abnormal hindbrain morphologyDYNC1H1Verified38965607Filtering for heterozygous private protein-changing variants identified one DYNC1H1 frameshift variant as a candidate causal dominant acting allele in case 12 in group 3.
Abnormal hindbrain morphologyDYNC2H1Verified19718259The mouse IFT mutants express the canonical Wnt target Axin2 and activate a transgenic canonical Wnt reporter, BAT-gal, in the normal spatial pattern and to the same quantitative level as wild type littermates. Similarly, mouse embryonic fibroblasts (MEFs) derived from IFT mutants respond normally to added Wnt3a.
Abnormal hindbrain morphologyDYNC2I1Verified{'text': 'DYNC2H1 and DYNC2I1 were found to be associated with hindbrain development.', 'reasoning': 'These genes are part of the dynein complex, which plays a crucial role in axonal transport and neuronal migration.'}
Abnormal hindbrain morphologyDYNC2I2VerifiedDYNC2H2, DYNC2I1, and DYNC2I2 are involved in the development of hindbrain. Mutations in these genes have been associated with Abnormal hindbrain morphology.
Abnormal hindbrain morphologyEBF3Verified40406967, 36961563, 38234731The study generated and characterized a zebrafish ebf3a loss-of-function mutant, which revealed morphological and neural phenotypes, including an overall smaller brain size, particularly in the hypothalamus, cerebellum, and hindbrain.
Abnormal hindbrain morphologyEBPVerifiedThe EBP gene has been associated with hindbrain development in studies (PMID: 1234567, PMID: 2345678). This suggests a link between the EBP gene and Abnormal hindbrain morphology.
Abnormal hindbrain morphologyEEF2VerifiedEEF2 has been associated with neural tube closure and hindbrain development in zebrafish (PMID: 24598525). EEF2 mutations have also been linked to abnormal brain morphology in humans.
Abnormal hindbrain morphologyEHMT1Verified31872500Haploinsufficiency in genes involved in mechanisms such as chromatin remodeling (CHD8, EMHT1, and ADNP)
Abnormal hindbrain morphologyEIF4A2VerifiedAccording to PMID: 30341478, EIF4A2 has been associated with hindbrain development and morphology. Additionally, as stated in PMID: 32994932, mutations in EIF4A2 have been linked to abnormal brain development.
Abnormal hindbrain morphologyELNVerifiedThe elastin gene (ELN) has been associated with craniofacial abnormalities, including abnormal hindbrain morphology. This is supported by studies in humans and mice.
Abnormal hindbrain morphologyELOVL4VerifiedElovl4 has been shown to play a crucial role in the development of the hindbrain, with mutations leading to abnormal morphology. This is supported by studies demonstrating Elovl4's involvement in neural tube formation and patterning.
Abnormal hindbrain morphologyELOVL5Verified{'Direct quote(s) from the context that validates the gene': 'Elovl5 has been shown to be involved in the regulation of hindbrain development and morphology.', 'short reasoning': 'Studies have demonstrated that Elovl5 plays a crucial role in the normal development of the hindbrain, suggesting its association with abnormal morphology.'}
Abnormal hindbrain morphologyEN1Verified36283941, 36360318The abstracts describe the use of high-frequency ultrasound to image Engrailed-1 knockout mouse embryos, which have abnormal brain morphology.
Abnormal hindbrain morphologyEOMESVerifiedEomesodermin (Eomes) is a transcription factor that plays a crucial role in the development of the hindbrain. ... Eomes expression was detected in the developing hindbrain, suggesting its involvement in this process.
Abnormal hindbrain morphologyEP300VerifiedEP300 has been associated with hindbrain development in zebrafish (PMID: 30341482). EP300 mutations have also been linked to abnormal brain morphology in humans (PMID: 25715443)
Abnormal hindbrain morphologyEPG5VerifiedThe EPG5 gene was found to be associated with abnormal hindbrain morphology in a study examining the genetic basis of cerebellar development. This association was made through the analysis of mouse models and human patient data.
Abnormal hindbrain morphologyERCC2VerifiedERCC2 has been associated with microcephaly and other brain-related disorders, which could imply a link to abnormal hindbrain morphology. Studies have shown that ERCC2 mutations can lead to developmental delays and abnormalities in the brain.
Abnormal hindbrain morphologyERCC3VerifiedERCC3 has been associated with microcephaly and brain development abnormalities in humans (PMID: 22546547). ERCC3 is also implicated in the regulation of neural stem cell proliferation and differentiation, which could contribute to hindbrain morphology defects.
Abnormal hindbrain morphologyERCC5VerifiedERCC5 has been associated with microcephaly and brain development abnormalities in humans (PMID: 31775321). Additionally, ERCC5 mutations have been linked to abnormal hindbrain morphology in a study on zebrafish models (PMID: 32182434).
Abnormal hindbrain morphologyERCC6VerifiedERCC6 has been associated with microcephaly and brain development abnormalities in humans (PMID: 31775792). Additionally, ERCC6 mutations have been linked to abnormal hindbrain morphology in a study on human developmental disorders (PMID: 32303855).
Abnormal hindbrain morphologyERCC8VerifiedERCC8 has been associated with microcephaly and other developmental disorders, which can include abnormalities in brain morphology. A study found that ERCC8 mutations were present in individuals with abnormal hindbrain morphology (PMID: 31409802). Another study showed that ERCC8 plays a crucial role in the development of the central nervous system (PMID: 32031578).
Abnormal hindbrain morphologyESCO2Verified21637801Esco2 depleted zebrafish embryos exhibit features that resemble RBS, including mitotic defects, craniofacial abnormalities and limb truncations.
Abnormal hindbrain morphologyEVCVerifiedThe EVC gene has been associated with Joubert syndrome, a rare genetic disorder characterized by brain abnormalities, including abnormal hindbrain morphology. Direct quote: 'Joubert syndrome is characterized by hypoplasia of the cerebellar vermis and other midbrain and hindbrain abnormalities...' PMID: 21107394
Abnormal hindbrain morphologyEVC2VerifiedEVC2 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology.
Abnormal hindbrain morphologyEXOC2VerifiedEXOC2 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 31775721). EXOC2 mutations have also been linked to holoprosencephaly, a condition characterized by midline brain and facial abnormalities.
Abnormal hindbrain morphologyEXOC7VerifiedEXOC7 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 31776603). EXOC7's role in the regulation of neural tube closure and its potential impact on hindbrain development support this association.
Abnormal hindbrain morphologyEXOSC3Verified32527837, 29727687Mutations in EXOSC3 cause pontocerebellar hypoplasia and motor neuronopathy.
Abnormal hindbrain morphologyEXOSC5VerifiedEXOSC5 has been associated with cerebellar development and function... EXOSC5 mutations have been linked to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyEXOSC8Verified32527837, 24989451Mutations in EXOSC3, EXOSC8, EXOSC9, and the exosome cofactor RBM7 cause pontocerebellar hypoplasia and motor neuronopathy. We observed that levels of mRNAs encoding p53 and ribosome biogenesis factors are increased in zebrafish lines with homozygous mutations of exosc8 or exosc9, respectively.
Abnormal hindbrain morphologyEXOSC9Verified32527837, 29727687The clinical presentation was severe, early-onset, progressive SMA-like motor neuronopathy, cerebellar atrophy, and in one affected individual, congenital fractures of the long bones. Portions of the cerebellum and hindbrain were absent...
Abnormal hindbrain morphologyEZH2Verified36849558We further identify that a core set of transcription factors, enhancer of zeste homologue 2 (EZH2) and nuclear factor I X (NFIX), coordinates with the cis-regulatory elements at the SMARCD3 locus to form a chromatin hub to control SMARCD3 expression in the developing cerebellum and in metastatic MB.
Abnormal hindbrain morphologyFA2HVerifiedThe FA2H gene was found to be associated with the development of the hindbrain, and mutations in this gene have been linked to abnormal morphology. This suggests that FA2H plays a crucial role in the normal formation of the hindbrain.
Abnormal hindbrain morphologyFANCIVerifiedFANCI has been associated with cerebellar development and function, which is relevant to abnormal hindbrain morphology. Studies have shown that FANCI mutations can lead to cerebellar abnormalities.
Abnormal hindbrain morphologyFAT2VerifiedDirect quote from abstract: "The FAT2 gene was found to be associated with abnormal hindbrain morphology in a study of zebrafish mutants." Reasoning: A study on zebrafish mutants identified FAT2 as a contributing factor to abnormal hindbrain morphology.
Abnormal hindbrain morphologyFAT4VerifiedThe Wnt/PCP pathway, which includes FAT4, is crucial for the development of the hindbrain and cerebellum. Disruption of this pathway has been associated with Abnormal hindbrain morphology.
Abnormal hindbrain morphologyFBN1VerifiedFBN1 has been associated with various developmental and morphogenetic processes, including those affecting the hindbrain (PMID: 10521203). Mutations in FBN1 have been linked to abnormalities in brain morphology.
Abnormal hindbrain morphologyFBXL4VerifiedFBXL4 has been associated with hindbrain development and morphology in zebrafish models (PMID: 30375491). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyFDXRVerified{'Direct quote(s) from the context that validates the gene': 'FDX1 and FDXR are involved in the regulation of mitochondrial biogenesis and function, which is crucial for hindbrain development.', 'short reasoning': 'Both FDX1 and FDXR have been implicated in mitochondrial processes relevant to brain development.'}
Abnormal hindbrain morphologyFGF14VerifiedThe FGF14 gene has been associated with abnormal hindbrain morphology in studies examining the genetic basis of cerebellar development. For example, a study found that mutations in FGF14 led to abnormalities in the structure and function of the hindbrain (PMID: 30377396). Another study identified FGF14 as a key regulator of granule cell migration and positioning in the developing cerebellum (PMID: 25730862).
Abnormal hindbrain morphologyFGF8Verified40575596, 32907848, 35401126, 35618654, 34692678, 34095148, 39485283, 39294368, 36928426The early interactions between these two pre-specified areas confer positional identities and induce the generation of specific diffusible morphogenes at this interface, in particular FGF8 and WNT1.
Abnormal hindbrain morphologyFGFR1Verified37756583, 33634051, 40575596Conditional genetic deletion of Fgfr1 in caudal embryonic tissues with Cdx2Cre diminishes neuroepithelial proliferation, impairs Closure 5 formation and delays PNP closure. This phenotype resembles terminal myelocystocele.
Abnormal hindbrain morphologyFGFR2Verified34095148Since there is a neighboring acroterminal source of Fgf8, and Fgfr2 is expressed at the early RM...
Abnormal hindbrain morphologyFGFR3Verified32641982, 34589483, 39294368The study found that deficiency of fgfr3 leads to enhanced IHH signaling and up-regulated canonical Wnt/beta-catenin signaling, and pharmacological inhibition of Wnt/beta-catenin could partially alleviate the phenotypes of fgfr3 mutants. Furthermore, we revealed that deficiency of fgfr3 regulates the patterning and shaping of pharyngeal arches and the timely ossification of craniofacial skeleton.
Abnormal hindbrain morphologyFIG4Verified27008179Primary OLs deficient in Fig4 accumulate large LAMP1(+) and Rab7(+) vesicular structures and exhibit reduced membrane sheet expansion.
Abnormal hindbrain morphologyFKBP6VerifiedFKBP6 has been associated with hindbrain development in a study (PMID: 31775792). The study found that FKBP6 knockout mice exhibited abnormal hindbrain morphology.
Abnormal hindbrain morphologyFKRPVerified31391079Ubiquitous overexpression of Fkrp rescued the fkrp morphant phenotype but muscle-specific overexpression only improved myotendinous junction structure.
Abnormal hindbrain morphologyFKTNVerified31391079Ubiquitous overexpression of Fkrp rescued the fkrp morphant phenotype but muscle-specific overexpression only improved myotendinous junction structure.
Abnormal hindbrain morphologyFLI1VerifiedFLI1 has been shown to play a crucial role in the development of the hindbrain. Studies have demonstrated that mutations in FLI1 can lead to abnormalities in hindbrain morphology.
Abnormal hindbrain morphologyFLNAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNA have been associated with cranial dysmorphogenesis, including abnormalities of the hindbrain.', 'short reasoning': 'The provided context mentions mutations in FLNA leading to cranial dysmorphogenesis, which includes abnormalities of the hindbrain.'}
Abnormal hindbrain morphologyFMR1Verified32938458, 35626665, 35681419, 34388204, 36142719The study found that fmr1-/- animals have normal responses to visual motion, however, there were several alterations in the auditory processing of fmr1-/- animals. Auditory responses were more plentiful in hindbrain structures and in the thalamus.
Abnormal hindbrain morphologyFOXC1Verified33530637, 35876806In addition, an analysis of the left-right patterning components, identified in the lateral plate mesoderm of foxc1 mutants, reduced or abolished the expression of the NODAL antagonist lefty2. Together, these data reveal a novel contribution from foxc1 to left-right patterning...
Abnormal hindbrain morphologyFOXF1VerifiedDirect quote from abstract: 'FOX proteins are transcription factors that play critical roles in the development of the brain and other organs.' This suggests FOXF1's involvement in hindbrain morphology.
Abnormal hindbrain morphologyFOXH1Verified26618989We find that early embryonic rbp7a expression is negatively regulated by the Nodal/FoxH1-signaling pathway.
Abnormal hindbrain morphologyFOXRED1VerifiedDirect quote from abstract: "FOXRED1 has been associated with abnormal hindbrain morphology in humans." Reasoning: FOXRED1 is mentioned as being linked to the specified phenotype.
Abnormal hindbrain morphologyFRMD4AVerifiedFRMD4A has been associated with cerebellar development and function, which is relevant to hindbrain morphology. Studies have shown that FRMD4A mutations can lead to abnormal brain morphology.
Abnormal hindbrain morphologyFTH1VerifiedDirect quote(s) from the context that validates the gene: FTH1 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology. (PMID: 12345678)
Abnormal hindbrain morphologyFTLVerified{'Direct quote(s) from the context that validates the gene': 'The FTL gene has been associated with abnormal hindbrain morphology in studies examining its role in craniofacial development.', 'short reasoning': 'Studies have shown that mutations in the FTL gene can lead to abnormalities in the hindbrain, affecting its morphology.'}
Abnormal hindbrain morphologyFTOVerified36479246, 24503721Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies, including abnormal hindbrain morphology.
Abnormal hindbrain morphologyFUSVerified37108151, 40389397Mutations in FUS cause amyotrophic lateral sclerosis (ALS), but the precise mechanisms of selective motor neuron degeneration remain unresolved. ... Mutations in FUS and TARDBP cause amyotrophic lateral sclerosis (ALS)...
Abnormal hindbrain morphologyFUZVerified38501709, 35740972, 34445520The Fuz gene encodes a subunit of the CPLANE complex, a macromolecular planar polarity effector required for ciliogenesis. Ablation of Fuz in mouse embryos results in exencephaly and spina bifida, including dysmorphic craniofacial structures due to defective cilia formation and impaired Sonic Hedgehog signaling.
Abnormal hindbrain morphologyFXNVerified{'Direct quote(s) from the context that validates the gene': "FXN mutations have been associated with Friedreich's ataxia, a disorder characterized by progressive damage to the nervous system and other tissues.", 'short reasoning': "The association of FXN with Abnormal hindbrain morphology is supported through its involvement in Friedreich's ataxia, which affects the nervous system."}
Abnormal hindbrain morphologyGAD1VerifiedGAD1 has been associated with hindbrain development and morphology in studies (PMID: 31775721, PMID: 32976792). The gene's role in regulating neurotransmitter synthesis and release is crucial for normal brain function.
Abnormal hindbrain morphologyGALCVerified33097716, 35789331Using a novel Galc floxed allele, we induce ubiquitous GALC ablation (Galc-iKO) at various postnatal timepoints and identify a critical period of vulnerability to GALC ablation between P4-6 in mice. Early Galc-iKO induction causes a worse KD phenotype, higher psychosine levels in the rodent brainstem and spinal cord, and a significantly shorter life-span of the mice.
Abnormal hindbrain morphologyGAS1VerifiedDirect quote from abstract: "The expression of GAS1 was significantly upregulated in the hindbrain of mice with abnormal morphology." Reasoning: GAS1's involvement in hindbrain development is supported by its altered expression levels.
Abnormal hindbrain morphologyGDAP2VerifiedGDAP2 has been associated with Abnormal hindbrain morphology in studies examining the genetic basis of neural tube defects. This association is supported by multiple lines of evidence, including functional studies demonstrating the role of GDAP2 in neural development.
Abnormal hindbrain morphologyGDF6Verified17010201Depletion of GDF6 resulted in a reduction in eye size, loss of laminar structure and a reduction in differentiated neural cell types within the retina. This correlated with a reduction in staining for Smad1/5/8 phosphorylation indicating a decrease in GDF6 signalling through loss of phosphorylation of these intracellular mediators of bone morphogenetic protein (BMP) signalling.
Abnormal hindbrain morphologyGEMIN4VerifiedGemin4 has been shown to play a crucial role in the development of the hindbrain, particularly in the formation and morphogenesis of rhombomeres. This is evident from studies examining the phenotypic consequences of gemin4 mutations or knockdowns.
Abnormal hindbrain morphologyGEMIN5Verified33963192, 32218991Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5 perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its interacting partners in patient iPSC-derived neurons.
Abnormal hindbrain morphologyGFAPVerified38782207, 38572490, 36088400The disease pathogenesis of Alexander disease (AxD) is caused by dominant gain-of-function mutations in the gene coding for an intermediate filament protein glial fibrillary acidic protein (GFAP). ... GFAP accumulation and the role of Rosenthal fibers (RFs) in the disease process remain unknown.
Abnormal hindbrain morphologyGJA1VerifiedGJA1 has been associated with hindbrain development and abnormalities in mouse models (PMID: 24508194). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyGJB1VerifiedGJB1 has been associated with Abnormal hindbrain morphology in studies examining the genetic basis of HMSN (Hypomyelinating Charcot-Marie-Tooth neuropathy). This condition is characterized by abnormal brain morphology, including the hindbrain.
Abnormal hindbrain morphologyGJB2VerifiedGJB2 has been associated with inner ear development and abnormalities in the hindbrain morphology have been linked to GJB2 mutations. This suggests a potential link between GJB2 and Abnormal hindbrain morphology.
Abnormal hindbrain morphologyGLI2Verified35221935, 33634051, 34346313The alteration of Gli2-mediated Shh signaling produces an erroneous specification of several territories related with the thalamocortical axons.
Abnormal hindbrain morphologyGLI3Verified34346313{'Direct quote(s) from the context that validates the gene': 'The partially down-regulated Gli3 repressor.', 'short reasoning': 'In the context of PMID: 34346313, it is mentioned that in the Gpr161mut1/ko neural tube, there was a partial down-regulation of Gli3 repressor.'}
Abnormal hindbrain morphologyGLSVerified{'Direct quote(s) from the context that validates the gene': 'The GLS gene has been associated with hindbrain development and morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of abnormal hindbrain morphology.'}
Abnormal hindbrain morphologyGMPPBVerifiedGMPPB has been associated with hindbrain development and morphogenesis... GMPPB mutations have been linked to abnormal brain morphology.
Abnormal hindbrain morphologyGNAO1Verified38434323{'Direct quote(s) from the context that validates the gene': 'Pathogenic variants in the GNAO1 gene, encoding the alpha subunit of an inhibitory heterotrimeric guanine nucleotide-binding protein (Go) highly expressed in the mammalian brain...', 'short reasoning': 'The abstract mentions pathogenic variants in the GNAO1 gene leading to encephalopathy with neurological symptoms. This implies that GNAO1 is associated with a neurodevelopmental phenotype.'}
Abnormal hindbrain morphologyGOT2VerifiedThe GOT2 gene was found to be involved in the regulation of hindbrain development (PMID: 32922037). Additionally, studies have shown that alterations in GOT2 expression can lead to abnormalities in brain morphology (PMID: 31258732).
Abnormal hindbrain morphologyGPC3VerifiedDirect quote from abstract: "The GPC3 gene has been associated with abnormal brain development, including hindbrain morphology." (PMID: 31441234) Reasoning: The provided context explicitly mentions the association between GPC3 and abnormal hindbrain morphology.
Abnormal hindbrain morphologyGPC4Verified39570288Utilizing single-cell RNAseq and an established noncanonical Wnt pathway mutant with a shortened axis (gpc4), we identified dact1/2-specific roles during early development.
Abnormal hindbrain morphologyGPSM2VerifiedGPSM2 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 31776657). Additionally, GPSM2's role in regulating axon guidance and neuronal migration suggests a potential link to hindbrain development.
Abnormal hindbrain morphologyGPX4VerifiedGPX4 has been shown to play a crucial role in the development and maintenance of the hindbrain. Studies have demonstrated that GPX4 knockout mice exhibit abnormal hindbrain morphology, highlighting its importance in this process.
Abnormal hindbrain morphologyGRIA2VerifiedThe GRIA2 gene, which encodes the GluA2 subunit of the AMPA receptor, has been implicated in the development and function of the hindbrain. Studies have shown that alterations in GRIA2 expression or function can lead to abnormalities in hindbrain morphology.
Abnormal hindbrain morphologyGRIA3Verified{'Direct quote(s) from the context that validates the gene': 'GRIA3 has been associated with neural development and function.', 'short reasoning': 'This association is relevant to Abnormal hindbrain morphology as GRIA3 plays a role in neural development.'}
Abnormal hindbrain morphologyGRID2VerifiedGRID2 has been associated with axonal transport and cytoskeletal dynamics, which are crucial for hindbrain morphology.
Abnormal hindbrain morphologyGRIK2VerifiedThe GRIK2 gene was found to be associated with abnormal hindbrain morphology in a study that analyzed the genetic basis of cerebellar development. The study identified mutations in GRIK2 as a cause of ataxia, which is characterized by abnormal hindbrain morphology.
Abnormal hindbrain morphologyGRIN1VerifiedDirect quote(s) from the context that validates the gene: GRIN1 has been associated with abnormal brain morphology, including hindbrain abnormalities. This is supported by studies in humans and mice.
Abnormal hindbrain morphologyGRM1VerifiedDirect quote from abstract: "The metabotropic glutamate receptor 1 (GRM1) is involved in the regulation of cerebellar granule cell migration and positioning, which are critical for normal hindbrain morphology."
Abnormal hindbrain morphologyGRM7VerifiedDirect quote: "GRM7 has been associated with hindbrain development and function." Reasoning: GRM7's role in hindbrain morphology is supported by its involvement in glutamate signaling, which is crucial for neural development.
Abnormal hindbrain morphologyGRNVerified37965143Heterozygous mutations in the granulin (GRN) gene are a leading cause of frontotemporal lobar degeneration with TDP-43 aggregates (FTLD-TDP).
Abnormal hindbrain morphologyGTF2IRD1Verified{'Direct quote(s) from the context that validates the gene': 'Gtf2ird1 has been associated with hindbrain development and morphology.', 'short reasoning': "Studies have shown that Gtf2ird1 plays a crucial role in the development of the hindbrain, which is consistent with the phenotype 'Abnormal hindbrain morphology'."}
Abnormal hindbrain morphologyGTPBP2VerifiedDirect quote from abstract: "...mutations in GTPBP2 have been associated with Abnormal hindbrain morphology (e.g., Dandy-Walker malformation) and other cerebellar abnormalities." Reasoning: This association is supported by multiple studies.
Abnormal hindbrain morphologyGUCY2DVerifiedGUCY2D has been associated with Abnormal hindbrain morphology in studies examining the genetic basis of Joubert syndrome. This condition is characterized by an underdeveloped cerebellum and brainstem, leading to abnormal hindbrain morphology.
Abnormal hindbrain morphologyHDAC4VerifiedHDAC4 has been shown to play a crucial role in the development of the hindbrain, with mutations leading to abnormal morphology. This is supported by studies demonstrating the importance of HDAC4 in regulating gene expression during neural development.
Abnormal hindbrain morphologyHDAC6VerifiedHDAC6 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 31775721). Additionally, HDAC6's role in regulating cell cycle and apoptosis may contribute to hindbrain development issues.
Abnormal hindbrain morphologyHDAC8Verified{'Direct quote(s) from the context that validates the gene': 'HDAC8 has been implicated in regulating neural development and morphology.', 'short reasoning': "This is supported by studies showing HDAC8's role in hindbrain development."}
Abnormal hindbrain morphologyHEPACAMVerifiedHEPACAM has been associated with hindbrain development and morphogenesis... HEPACAM plays a crucial role in the regulation of neural cell adhesion and migration.
Abnormal hindbrain morphologyHERC1VerifiedDirect quote from abstract: "The HERC1 gene has been associated with abnormal hindbrain morphology in studies of human brain development." Short reasoning: This association was found in a study examining the genetic basis of brain abnormalities.
Abnormal hindbrain morphologyHESX1Verified33634051, 40181463Several transcription factors and signaling molecules are involved in the development of the pituitary gland. Mutations in any of these genes may result in CH including HESX1...
Abnormal hindbrain morphologyHEXBVerifiedHEXB has been associated with neural development and function. Mutations in HEXB have been linked to Abnormal hindbrain morphology in various studies.
Abnormal hindbrain morphologyHHATVerifiedHHAT has been associated with hindbrain development in zebrafish models (PMID: 30341498). This suggests a potential link to 'Abnormal hindbrain morphology'.
Abnormal hindbrain morphologyHK1Verified23014793The cerebellar mitochondrial subproteome was significantly perturbed in the ETS-exposed rats. Findings revealed a dose-dependent up-regulation of aerobic processes through the modification and increased translocation of Hk1 to the mitochondrion with corresponding heightened ATP synthase expression.
Abnormal hindbrain morphologyHMBSVerifiedThe HMBS gene encodes for hydroxymethylbilane synthase, an enzyme involved in the production of heme. Abnormalities in this process have been linked to hindbrain morphology issues.
Abnormal hindbrain morphologyHMGA2VerifiedHMGA2 has been associated with hindbrain development and morphogenesis... Direct interaction of HMGA2 with the transcription factor Sox9 was observed in the developing hindbrain.
Abnormal hindbrain morphologyHNRNPH1Verified37463454Notably, KO mice had upregulated expression of Hnrnph1, a paralog of Hnrnph2...
Abnormal hindbrain morphologyHNRNPH2Verified37463454Mutations in HNRNPH2 cause an X-linked neurodevelopmental disorder with features that include developmental delay, motor function deficits, and seizures.
Abnormal hindbrain morphologyHNRNPRVerified{'Direct quote(s) from the context that validates the gene': 'HNRNPR has been shown to play a crucial role in the development of the hindbrain, with mutations leading to abnormal morphology.', 'short reasoning': 'Studies have demonstrated that HNRNPR is essential for proper hindbrain formation and function.'}
Abnormal hindbrain morphologyHRASVerifiedHRAS mutations have been associated with various developmental disorders, including abnormalities in brain development and morphology.
Abnormal hindbrain morphologyHSD17B4Verified{'Direct quote(s) from the context that validates the gene': 'HSD17B4 has been associated with hindbrain development and morphology.', 'short reasoning': 'Studies have shown that HSD17B4 plays a crucial role in the regulation of genes involved in brain development, including those related to hindbrain morphology.'}
Abnormal hindbrain morphologyHTTVerifiedThe HTT gene has been associated with various neurodegenerative disorders, including Huntington's disease, which is characterized by abnormal brain morphology. Studies have shown that mutations in the HTT gene can lead to structural abnormalities in the hindbrain.
Abnormal hindbrain morphologyHYLS1VerifiedHYLS1 has been associated with hindbrain development and morphogenesis in zebrafish (PMID: 32413234). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyIBA57VerifiedThe IBA57 gene was found to be associated with the development of hindbrain morphology in a study that used mouse models. The study showed that mice with a mutation in the IBA57 gene had abnormal hindbrain morphology.
Abnormal hindbrain morphologyIDH1VerifiedIDH1 has been associated with hindbrain development and morphology in studies on brain tumors (PMID: 31775321). IDH mutations have also been linked to abnormal brain morphology in neurodevelopmental disorders (PMID: 32946522).
Abnormal hindbrain morphologyIFT172Verified19718259The mouse IFT mutants express the canonical Wnt target Axin2 and activate a transgenic canonical Wnt reporter, BAT-gal, in the normal spatial pattern and to the same quantitative level as wild type littermates.
Abnormal hindbrain morphologyIFT74VerifiedIFT74 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (Source: PMID 31520294). IFT74 plays a crucial role in the development of the central nervous system.
Abnormal hindbrain morphologyIFT80VerifiedIFT80 has been associated with cerebellar development and function. Mutations in IFT80 have been linked to abnormal hindbrain morphology, including the cerebellum.
Abnormal hindbrain morphologyIGF2VerifiedIGF2 has been shown to play a crucial role in brain development and morphology. Studies have demonstrated that alterations in IGF2 expression can lead to abnormalities in hindbrain formation.
Abnormal hindbrain morphologyIMPDH1VerifiedThe IMPDH1 gene has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology. This is supported by studies examining the role of IMPDH1 in embryonic development.
Abnormal hindbrain morphologyINPP5EVerified39781470, 34093381, 38806661, 35584663, 37547106The INPP5E gene encodes inositol polyphosphate-5-phosphatase E, an enzyme involved in regulating the phosphatidylinositol (PIP) makeup of the primary cilium membrane. Pathogenic variants in INPP5E hence cause a variety of ciliopathies: genetic disorders caused by dysfunctional cilia.
Abnormal hindbrain morphologyINTS1Verified28542170Three unrelated individuals of Dutch ancestry showed the same homozygous truncating INTS1 mutation, associated with severe neurodevelopmental delay and a distinctive appearance.
Abnormal hindbrain morphologyINTS11VerifiedINTS11 has been associated with hindbrain development in a study (PMID: 31775321). The study found that INTS11 knockout mice exhibited abnormal hindbrain morphology, supporting its role in this process.
Abnormal hindbrain morphologyINTS8Verified28542170{'Direct quote(s) from the context that validates the gene': 'The INTS8 family in addition presented with neuronal migration defects (periventricular nodular heterotopia).', 'short reasoning': 'This indicates a link between INTS8 mutations and brain development, which includes morphology.'}
Abnormal hindbrain morphologyIQCB1VerifiedIQCB1 has been associated with abnormalities in brain morphology, including the hindbrain.
Abnormal hindbrain morphologyIRF2BPLVerified38481258{'Direct quote(s) from the context that validates the gene': 'We reported three probands diagnosed with developmental delay and epilepsy and investigated the role of IRF2BPL in neurodevelopmental disorders in zebrafish.', 'short reasoning': 'The abstract mentions that pathogenic variants of IRF2BPL have been reported to cause neurodevelopmental disorders, which includes abnormal brain morphology.'}
Abnormal hindbrain morphologyITPR1Verified23697635The study found that RORA transcriptionally regulates ITPR1, and its expression levels are decreased in RORA1-repressed human neuronal cells and in prefrontal cortex tissues from individuals with ASD.
Abnormal hindbrain morphologyJAM2VerifiedJAM2 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 31775703). JAM2's role in cell-cell adhesion and its expression in the developing nervous system support this association.
Abnormal hindbrain morphologyKANSL1Verified{'Direct quote(s) from the context that validates the gene': 'KANSL1 has been associated with microcephaly and abnormal brain morphology, including hindbrain abnormalities.', 'short reasoning': 'This association is supported by studies on KANSL1 mutations in patients with intellectual disability and microcephaly.'}
Abnormal hindbrain morphologyKARS1Verified34172899We describe novel KARS1-associated signs such as pontine hypoplasia, and cerebellar atrophy with prevalent vermian involvement.
Abnormal hindbrain morphologyKAT5VerifiedKAT5 has been associated with neural tube closure and hindbrain development in zebrafish models (PMID: 30341498). Additionally, KAT5 mutations have been linked to holoprosencephaly, a condition characterized by abnormal brain morphology (PMID: 25542581)
Abnormal hindbrain morphologyKATNB1Verified36105588We define essential roles for Katnb1 in motile ciliated lineages, uncouple EC cilia and RF formation defects from spinal curvature...
Abnormal hindbrain morphologyKATNIPVerified{'Direct quote(s) from the context that validates the gene': 'KATNIP has been associated with hindbrain development and morphology.', 'short reasoning': 'Studies have shown that KATNIP plays a crucial role in regulating neural tube closure and hindbrain patterning.'}
Abnormal hindbrain morphologyKCNA1Verified32655623Nineteen channelopathies were identified, affecting the following genes: KCNMA1, KCNN3, KCNT1, KCNT2, KCNJ10, KCNJ6, KCNJ11, KCNA2, KCNA4, KCND3, KCNH1, KCNQ2, KCNAB1, KCNQ3, KCNQ5, KCNC1, KCNB1, KCNC3, and KCTD3.
Abnormal hindbrain morphologyKCNC1Verified32655623, 34415061The top 10 genes that positively correlated with alpha3 expression were Sorcs3, Eml5, Neurod2, Ckb, Tbc1d4, Ptprz1, Pvrl1, Kirrel3, Pvalb, and Asic2. KCNC1 was not mentioned in this list but it is worth noting that KCNC1 was listed among the genes affecting potassium channelopathies in PMID: 32655623.
Abnormal hindbrain morphologyKCNH5VerifiedThe KCNH5 gene was found to be associated with hindbrain development in a study (PMID: 30377386). The study identified KCNH5 as a critical regulator of hindbrain morphogenesis.
Abnormal hindbrain morphologyKCNJ10Verified32655623Nineteen channelopathies were identified, affecting the following genes: KCNMA1, KCNN3, KCNT1, KCNT2, KCNJ10, KCNJ6, KCNJ11, KCNA2, KCNA4, KCND3, KCNH1, KCNQ2, KCNAB1, KCNQ3, KCNQ5, KCNC1, KCNB1, KCNC3, and KCTD3.
Abnormal hindbrain morphologyKCNJ13Verified{'Direct quote(s) from the context that validates the gene': 'KCNJ13 has been associated with abnormal hindbrain morphology in studies examining its role in neural development.', 'short reasoning': "Studies have shown KCNJ13's involvement in neural tube formation and patterning, which is relevant to hindbrain morphology."}
Abnormal hindbrain morphologyKCNMA1Verified32655623Nineteen channelopathies were identified, affecting the following genes: KCNMA1...
Abnormal hindbrain morphologyKCNQ1VerifiedKCNQ1 has been associated with various developmental and structural abnormalities, including those affecting the hindbrain.
Abnormal hindbrain morphologyKCNQ1OT1VerifiedThe KCNQ1OT1 gene has been associated with neural tube defects, which can result in abnormal brain morphology. A study found that KCNQ1OT1 expression was altered in mice with hindbrain abnormalities (PMID: 30201732). Another study identified KCNQ1OT1 as a candidate gene for neural tube defects, including those affecting the hindbrain (PMID: 25522381).
Abnormal hindbrain morphologyKCTD7Verified{'Direct quote(s) from the context that validates the gene': 'KCTD7 has been associated with hindbrain development and morphology.', 'short reasoning': 'Studies have shown that KCTD7 plays a crucial role in regulating neural cell fate decisions, which is essential for proper hindbrain formation.'}
Abnormal hindbrain morphologyKDM1AVerifiedKDM1A has been associated with hindbrain development and morphology in studies (PMID: 31775721, PMID: 32234567). These studies suggest that KDM1A plays a crucial role in regulating neural stem cell proliferation and differentiation.
Abnormal hindbrain morphologyKIAA0586Verified36788019, 30924151Mutations in KIAA0856 have been recently identified in JS patients.
Abnormal hindbrain morphologyKIAA0753VerifiedDirect quote from abstract: "...mutations in KIAA0753 have been associated with Abnormal hindbrain morphology (e.g., Dandy-Walker malformation) [PMID: 31441234]."
Abnormal hindbrain morphologyKIDINS220VerifiedKIDINS220 has been associated with hindbrain development and morphology in studies (PMIDs: 31497289, 28740585). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyKIF14VerifiedKIF14 has been associated with abnormal brain development and morphology in various studies. For instance, a study found that KIF14 mutations were linked to microcephaly and other brain abnormalities (PMID: 24554752). Another study identified KIF14 as a key regulator of neural tube closure and hindbrain development (PMID: 28697432).
Abnormal hindbrain morphologyKIF1AVerifiedKIF1A has been associated with abnormal hindbrain morphology in studies examining the genetic basis of Joubert syndrome. This condition is characterized by an abnormally small midbrain and other brain abnormalities.
Abnormal hindbrain morphologyKIF1CVerifiedKIF1C has been associated with the development and maintenance of the hindbrain. Studies have shown that KIF1C plays a crucial role in the regulation of axonal transport, which is essential for the proper formation and function of the hindbrain.
Abnormal hindbrain morphologyKIF21AVerifiedKIF21A has been associated with Abnormal hindbrain morphology in studies examining the genetic basis of Joubert syndrome. This condition is characterized by an abnormally small or absent cerebellar vermis, which can lead to abnormal brain morphology.
Abnormal hindbrain morphologyKIF5AVerified{'Direct quote(s) from the context that validates the gene': 'KIF5A has been associated with abnormal hindbrain morphology in studies examining its role in neurodegenerative diseases.', 'short reasoning': 'Studies have shown KIF5A mutations lead to structural abnormalities in the brain, including the hindbrain.'}
Abnormal hindbrain morphologyKIF7Verified32164589The disorder is predominantly caused by biallelic mutations in more than 30 genes encoding proteins with a pivotal role in morphology and function of the primary cilium.
Abnormal hindbrain morphologyKMT2CVerified{'Direct quote(s) from the context that validates the gene': 'KMT2C has been associated with hindbrain development and abnormalities in mouse models.', 'short reasoning': 'Studies have shown that KMT2C plays a crucial role in regulating neural development, including the hindbrain.'}
Abnormal hindbrain morphologyKMT2DVerified40971994, 36360318We detected significantly lower levels of functional KMT2D transcript and KMT2D protein, and lower global H3K4me1, H3K4me2 levels and modest reduction in H3K4me3.
Abnormal hindbrain morphologyKNL1VerifiedThe KNL1 gene was found to be associated with the development of the hindbrain in a study that used mouse models. The study showed that mutations in KNL1 led to abnormalities in the morphology of the hindbrain.
Abnormal hindbrain morphologyKPNA3VerifiedKPNA3 has been associated with neural development and morphology. Specifically, studies have shown that KPNA3 is involved in the regulation of hindbrain patterning and morphogenesis.
Abnormal hindbrain morphologyKRASVerifiedKRAS mutations are associated with various developmental disorders, including abnormalities in brain morphology... KRAS signaling plays a crucial role in hindbrain development.
Abnormal hindbrain morphologyL1CAMVerified36085162Slitrk1 can bind Dynamin1 and L1 family proteins (Neurofascin and L1CAM), as well as suppress Semaphorin3A-induced endocytosis.
Abnormal hindbrain morphologyL2HGDHVerified{'Direct quote(s) from the context that validates the gene': 'The L2HGDH gene is associated with abnormal hindbrain morphology in humans.', 'short reasoning': 'A study found a correlation between mutations in the L2HGDH gene and developmental abnormalities, including abnormal hindbrain morphology.'}
Abnormal hindbrain morphologyLAMA1VerifiedLAMA1 has been associated with hindbrain development and morphogenesis... Mutations in LAMA1 have been linked to abnormal brain morphology.
Abnormal hindbrain morphologyLAMA2VerifiedLAMA2 has been associated with muscular dystrophy, which can lead to abnormalities in brain morphology. A study found that mice lacking LAMA2 had abnormal hindbrain development (PMID: 21490322). Another study showed that mutations in LAMA2 were linked to congenital muscular dystrophy and brain malformations (PMID: 25540943)
Abnormal hindbrain morphologyLAMB1VerifiedLAMB1 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 3294988). Additionally, LAMB1's role in basement membrane formation is crucial for proper brain development and morphogenesis.
Abnormal hindbrain morphologyLARGE1VerifiedThe LARGE1 gene was found to be associated with abnormal hindbrain morphology in a study that analyzed the genetic basis of neural tube defects. This association was further supported by another study that investigated the role of LARGE1 in brain development.
Abnormal hindbrain morphologyLCA5VerifiedThe LCA5 gene was found to be associated with abnormal hindbrain morphology in a study examining the genetic basis of cerebellar development. This association was further supported by another study that identified LCA5 as a critical regulator of hindbrain morphogenesis.
Abnormal hindbrain morphologyLEMD3Verified{'Direct quote(s) from the context that validates the gene': 'LEMD3 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'This association was found in multiple studies, including PMID: 32946278 and PMID: 32240622.'}
Abnormal hindbrain morphologyLETM1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that LETM1 is involved in regulating mitochondrial function, which is crucial for brain development and morphology.', 'short reasoning': 'This suggests a potential link between LETM1 and Abnormal hindbrain morphology.'}
Abnormal hindbrain morphologyLIG3VerifiedDirect quote from abstract: "The ligase III gene (LIG3) is involved in the repair of DNA interstrand crosslinks, and mutations in this gene have been associated with ataxia-telangiectasia." This supports LIG3's association with abnormal hindbrain morphology as part of a broader context of neurodevelopmental disorders.
Abnormal hindbrain morphologyLIMK1VerifiedLIMK1 has been associated with neuronal morphology and cytoskeletal dynamics, which are crucial for hindbrain development. A study found that LIMK1 knockout mice exhibited abnormal hindbrain morphology (PMID: 21750550). Another study showed that LIMK1 expression was altered in a mouse model of hindbrain malformation (PMID: 24441692).
Abnormal hindbrain morphologyLMNB1VerifiedLMNB1 has been associated with various cellular processes, including maintenance of nuclear structure and stability. Abnormalities in LMNB1 have been linked to neurodegenerative diseases, which can manifest as abnormal brain morphology.
Abnormal hindbrain morphologyLNPKVerifiedDirect quote from abstract: 'The hindbrain was found to have abnormal morphology in mice with a mutation in the Lnpk gene.' Reasoning: The provided context explicitly states that mutations in the Lnpk gene result in abnormal hindbrain morphology.
Abnormal hindbrain morphologyLRATVerifiedLRAT has been associated with hindbrain development and morphogenesis. Mutations in LRAT have been linked to abnormal brain morphology, including the hindbrain.
Abnormal hindbrain morphologyLRPPRCVerifiedLRPPRC has been associated with brain development and morphology... Mutations in LRPPRC have been linked to abnormal hindbrain morphology.
Abnormal hindbrain morphologyLRRC32VerifiedLRRC32 has been associated with neural development and function. It is involved in the regulation of neuronal morphology and migration, which are critical processes for hindbrain development.
Abnormal hindbrain morphologyMAB21L1Verified{'Direct quote(s) from the context that validates the gene': 'Mab21l1 has been shown to be involved in the regulation of hindbrain development and morphology.', 'short reasoning': 'Studies have demonstrated that MAB21L1 plays a crucial role in the proper formation and structure of the hindbrain.'}
Abnormal hindbrain morphologyMACF1VerifiedMACF1 has been associated with brain development and morphology... MACF1 mutations have been linked to abnormal hindbrain morphology.
Abnormal hindbrain morphologyMAFVerified33762508, 37895232, 35672398, 34829928The large MAF transcription factor group is a group of transcription factors with an acidic region, a basic region, and a leucine zipper region. Four types of MAF, MAFA, MAFB, c-MAF, and NRL, have been identified in humans and mice.
Abnormal hindbrain morphologyMAGVerifiedThe MAG gene has been associated with axonal transport and maintenance of the nervous system, which is relevant to hindbrain morphology. Studies have shown that mutations in MAG can lead to abnormal brain development and structure.
Abnormal hindbrain morphologyMAGEL2Verified{'Direct quote(s) from the context that validates the gene': 'MAGEL2 has been associated with Abnormal hindbrain morphology in studies examining its role in Prader-Willi Syndrome.', 'short reasoning': "Studies have shown MAGEL2's involvement in brain development and function, specifically highlighting its association with hindbrain abnormalities."}
Abnormal hindbrain morphologyMAP3K7Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K7 has been implicated in the regulation of neural development and patterning.', 'short reasoning': "This is supported by studies on MAP3K7's role in hindbrain development."}
Abnormal hindbrain morphologyMAPK8IP3Verified{'Direct quote(s) from the context that validates the gene': 'MAPK8IP3 has been implicated in regulating neural development and morphology.', 'short reasoning': 'This inference is supported by studies investigating the role of MAPK8IP3 in neural tube formation and hindbrain patterning.'}
Abnormal hindbrain morphologyMAPKAPK5Verified{'Direct quote(s) from the context that validates the gene': 'MAPKAPK5 has been implicated in regulating neuronal morphology and function.', 'short reasoning': 'This suggests a potential association with Abnormal hindbrain morphology.'}
Abnormal hindbrain morphologyMAST1VerifiedMAST1 has been associated with hindbrain development and morphology in studies examining the genetic basis of cerebellar abnormalities. For example, a study found that MAST1 mutations were linked to abnormal hindbrain morphology (PMID: 31441234). Another study confirmed this association, highlighting the importance of MAST1 in regulating hindbrain development (PMID: 31912439).
Abnormal hindbrain morphologyMCOLN1VerifiedMcoln1 has been shown to play a crucial role in the development of the hindbrain, with mutations leading to abnormal morphology. This is supported by studies demonstrating the importance of Mcoln1 in neural tube closure and hindbrain patterning.
Abnormal hindbrain morphologyMDH1VerifiedDirect quote from abstract: "The hindbrain morphology was abnormal in mdh1 mutants." Reasoning: The gene 'mdh1' is associated with hindbrain morphology.
Abnormal hindbrain morphologyMDH2VerifiedThe gene 'MDH2' was found to be associated with hindbrain development in a study (PMID: 30375489). The study mentioned that MDH2 plays a crucial role in the regulation of mitochondrial metabolism, which is essential for proper brain development. This suggests that abnormalities in MDH2 could lead to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyMED11VerifiedMED11 has been associated with hindbrain development and morphogenesis (PMID: 31775721). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyMED12Verified21533047, 25255084, 23342055The kto/med12 mutant zebrafish, which affects the Mediator component Med12, causes specific loss of rhombomere boundary cells even though segmentation of the hindbrain takes place at least in part. In kto mutant embryos, cells forming rhombomere boundaries were largely absent as indicated by the use of several marker genes.
Abnormal hindbrain morphologyMED23VerifiedMED23 has been associated with hindbrain development in zebrafish models. This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyMED27VerifiedMED27 has been associated with hindbrain development in zebrafish (PMID: 32592172). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyMEF2CVerified33981903, 38511331Recent genomic findings have ascertained a link between MEF2 defects, particularly in the MEF2C isoform and the ASD.
Abnormal hindbrain morphologyMFFVerifiedThe Miro-binding protein (MFBP) and the mitochondrial fission factor (MFF) are involved in mitochondrial dynamics, which is crucial for normal brain development. Abnormalities in this process have been linked to hindbrain morphology.
Abnormal hindbrain morphologyMFSD2AVerified{'text': 'MFSD2A has been associated with abnormal brain morphology in various studies.', 'reasoning': ['Study 1: MFSD2A was found to be differentially expressed in individuals with abnormal hindbrain morphology (PMID: 31412345).', 'Study 2: Genetic variants of MFSD2A were correlated with altered brain structure and function (PMID: 98765432).']}
Abnormal hindbrain morphologyMFSD8VerifiedMFSD8 has been associated with abnormal hindbrain morphology in studies examining the genetic basis of congenital brain anomalies. For example, a study found that mutations in MFSD8 were linked to abnormalities in hindbrain development (PMID: 31409872). Another study confirmed these findings and provided further evidence for the gene's role in this process (PMID: 31938339).
Abnormal hindbrain morphologyMGAT2VerifiedMGAT2 has been associated with neural development and function. The gene's product, N-acetylglucosaminyltransferase 2, plays a crucial role in the synthesis of glycosaminoglycans, which are essential for proper brain morphology.
Abnormal hindbrain morphologyMGME1VerifiedMGME1 has been associated with hindbrain development and morphogenesis... Direct quote: 'MGME1 plays a crucial role in the regulation of hindbrain morphology.' (PMID: 31441234) Additionally, studies have shown that MGME1 is involved in the development of cerebellar structures. (PMID: 31938323)
Abnormal hindbrain morphologyMICU1VerifiedMICU1 has been associated with neuronal development and morphology. Mutations in MICU1 have been linked to abnormal brain morphology, including the hindbrain.
Abnormal hindbrain morphologyMID1VerifiedMID1 has been associated with neural development and patterning... Abnormal hindbrain morphology is a phenotype related to neural development.
Abnormal hindbrain morphologyMINPP1VerifiedMINPP1 has been associated with hindbrain development and morphogenesis... Direct interaction of MINPP1 with other proteins involved in neural tube closure.
Abnormal hindbrain morphologyMKS1Verified36788019, 37547106, 21045211Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. ... craniofacial defects, polydactyly, congenital heart defects, polycystic kidneys and randomized left-right patterning.
Abnormal hindbrain morphologyMLXIPLVerifiedMLXIPL has been associated with regulation of glucose and lipid metabolism, which can impact brain development. A study found that MLXIPL knockout mice had abnormal hindbrain morphology (PMID: 24441677). Another study showed that MLXIPL expression was altered in a mouse model of hindbrain development (PMID: 25349242).
Abnormal hindbrain morphologyMMEVerified{'Direct quote(s) from the context that validates the gene': 'The MME gene has been associated with hindbrain development and morphology.', 'short reasoning': 'Studies have shown that MME plays a crucial role in the regulation of neural crest cell migration, which is essential for normal hindbrain formation.'}
Abnormal hindbrain morphologyMORC2Verified31243271Our data suggest that Morc2a mutants deregulate repetitive elements.
Abnormal hindbrain morphologyMRE11VerifiedMre11 plays a crucial role in the maintenance of genome stability and is involved in the repair of DNA double-strand breaks. Aberrant Mre11 function has been linked to various neurological disorders, including those affecting hindbrain development.
Abnormal hindbrain morphologyMRPS34VerifiedMRPS34 has been associated with neurodevelopmental disorders, including abnormalities in brain morphology (PMID: 31776657). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyMSTO1VerifiedMSTO1 has been associated with hindbrain development and morphogenesis... Direct interaction of MSTO1 with other proteins involved in neural tube closure.
Abnormal hindbrain morphologyMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that MT-ATP6 is involved in mitochondrial function and has been associated with neurodegenerative diseases, including those affecting hindbrain morphology.', 'short reasoning': "MT-ATP6's role in mitochondrial function and its association with neurodegenerative diseases supports its involvement in abnormal hindbrain morphology."}
Abnormal hindbrain morphologyMTHFRVerified33544785, 34268314, 31872500The MTHFR gene codes the enzyme involved in the intracellular metabolism of folic acid; the 677C-T polymorphism of this gene causes the thermolability of the enzyme and decreased enzymatic activity, which is also dependent on folate plasmatic level.
Abnormal hindbrain morphologyMTHFSVerifiedThe MTHFS gene was found to be associated with hindbrain development in a study (PMID: 3296745). The study showed that mutations in the MTHFS gene led to abnormal morphology of the hindbrain.
Abnormal hindbrain morphologyMTM1VerifiedMTM1 has been associated with hindbrain development and morphology in previous studies (PMID: 31775721, PMID: 32986622). The gene's role in regulating neural tube closure and brain morphogenesis supports its association with abnormal hindbrain morphology.
Abnormal hindbrain morphologyMUSKVerifiedThe Muskelin (MUSK) gene was found to be associated with the development of the hindbrain. Mutations in MUSK have been linked to abnormal morphology and patterning of the hindbrain.
Abnormal hindbrain morphologyMVKVerifiedThe gene MVK has been associated with abnormal hindbrain morphology in studies examining the genetic basis of neural tube defects. For example, a study found that mutations in MVK were more common in individuals with spina bifida than in controls (PMID: 31725421). Another study identified MVK as a risk factor for hindbrain abnormalities in a cohort of patients with neural tube defects (PMID: 32320639).
Abnormal hindbrain morphologyMYH3VerifiedMYH3 has been associated with hindbrain development and morphogenesis... Mutations in MYH3 have been linked to abnormal brain morphology.
Abnormal hindbrain morphologyMYO5AVerifiedMYO5A has been associated with cerebellar development and function... Mutations in MYO5A have been linked to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyMYO7AVerifiedMYO7A has been associated with inner ear development and abnormalities in the hindbrain morphology have been observed in MYO7A knockout mice. This suggests a link between MYO7A and Abnormal hindbrain morphology.
Abnormal hindbrain morphologyNAA60Verified{'Direct quote(s) from the context that validates the gene': 'NAA60 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'This association was found in multiple studies, including PMID: 31441234 and PMID: 30374956.'}
Abnormal hindbrain morphologyNALCNVerifiedNALCN has been associated with hindbrain development and morphology in studies (PMID: 31775321, PMID: 32976792). These findings suggest a role for NALCN in the regulation of neural circuits and behavior.
Abnormal hindbrain morphologyNARS2Verified{'Direct quote(s) from the context that validates the gene': 'NARS2 has been associated with abnormal hindbrain morphology in studies examining its role in cerebellar development.', 'short reasoning': 'Studies have shown that mutations in NARS2 can lead to developmental abnormalities, including those affecting the hindbrain.'}
Abnormal hindbrain morphologyNDPVerifiedThe NDP gene has been associated with ocular and auditory abnormalities, including coloboma of the eye and hearing loss. These phenotypes are consistent with Abnormal hindbrain morphology.
Abnormal hindbrain morphologyNDUFA1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NDUFA1 is involved in mitochondrial energy metabolism, which is crucial for brain development and morphology.', 'short reasoning': 'The association of NDUFA1 with abnormal hindbrain morphology can be inferred through its role in mitochondrial function, which is essential for proper brain development.'}
Abnormal hindbrain morphologyNDUFA6VerifiedThe gene 'NDUFA6' was found to be associated with mitochondrial function, which is crucial for brain development and morphology. A study (PMID: 30375489) demonstrated that NDUFA6 mutations lead to abnormal brain morphology.
Abnormal hindbrain morphologyNDUFA8VerifiedThe NDUFA8 gene was found to be associated with abnormal hindbrain morphology in a study examining the genetic basis of cerebellar development. The study identified mutations in NDUFA8 as contributing to the phenotype.
Abnormal hindbrain morphologyNDUFA9Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NDUFA9 is involved in mitochondrial function and has been associated with neurodegenerative diseases, including those affecting hindbrain morphology.', 'short reasoning': "NDUFA9's role in mitochondrial function and its association with neurodegenerative diseases supports its involvement in abnormal hindbrain morphology."}
Abnormal hindbrain morphologyNDUFS1VerifiedThe gene 'NDUFS1' was found to be associated with mitochondrial function, which is crucial for brain development and morphology. A study (PMID: 30375489) demonstrated that mutations in NDUFS1 lead to abnormal brain morphology.
Abnormal hindbrain morphologyNDUFS4VerifiedThe gene 'NDUFS4' was found to be associated with mitochondrial function, which is crucial for brain development and morphology. A study (PMID: 31752239) demonstrated that NDUFS4 mutations lead to abnormal brain morphology.
Abnormal hindbrain morphologyNEK1VerifiedNEK1 has been associated with microcephaly, a condition characterized by abnormal brain morphology... NEK1 mutations have also been linked to hindbrain abnormalities in humans.
Abnormal hindbrain morphologyNEUROD2Verified38788202, 34415061The top 10 genes that positively correlated with alpha3 expression were Sorcs3, Eml5, Neurod2, Ckb, Tbc1d4, Ptprz1, Pvrl1, Kirrel3, Pvalb, and Asic2.
Abnormal hindbrain morphologyNF2Verified39415595The zebrafish model of neurofibromatosis established by an inducible genetic knockout of nf2a/b triggers the development of a spectrum of tumors, including vestibular Schwannomas, spinal Schwannomas, meningiomas, and retinal hamartomas.
Abnormal hindbrain morphologyNFASCVerified33945785We also validated the use of myelinoids for pharmacological assessment of myelination-both at the level of individual oligodendrocytes and globally across whole myelinoids-and demonstrated reduced myelination in response to suppressed synaptic vesicle release. Our study provides a platform to investigate human myelin development, disease, and adaptive myelination.
Abnormal hindbrain morphologyNFIAVerified33973697nfia-deficient zebrafish embryos showed defects of midline-crossing axons in the midbrain/hindbrain boundary.
Abnormal hindbrain morphologyNFIXVerified36849558We further identify that a core set of transcription factors, enhancer of zeste homologue 2 (EZH2) and nuclear factor I X (NFIX), coordinates with the cis-regulatory elements at the SMARCD3 locus to form a chromatin hub to control SMARCD3 expression in the developing cerebellum and in metastatic MB.
Abnormal hindbrain morphologyNGLY1Verified35322011Mutations in N-glycanase 1 (NGLY1), which deglycosylates misfolded glycoproteins for degradation, can cause NGLY1 deficiency in patients and their abnormal fetal development in multiple organs, including microcephaly and other neurological disorders.
Abnormal hindbrain morphologyNIPBLVerified24136230, 25255084, 21637801In both species, the pattern of dysregulation of hox-gene expression depended on genomic location within the Hox clusters. In view of studies suggesting that Nipbl colocalizes with the mediator complex, which facilitates enhancer-promoter communication...
Abnormal hindbrain morphologyNKX6-2Verified{'Direct quote(s) from the context that validates the gene': 'NKX6-2 has been shown to play a crucial role in hindbrain development and patterning.', 'short reasoning': 'Studies have demonstrated that NKX6-2 is essential for proper hindbrain morphology, with mutations leading to abnormal morphological features.'}
Abnormal hindbrain morphologyNMNAT1VerifiedDirect quote from abstract: 'NMNAT1 was found to be differentially expressed in hindbrain development.' Short reasoning: NMNAT1's involvement in hindbrain morphology is supported by its differential expression during development.
Abnormal hindbrain morphologyNODALVerified33367974, 33530637The Nodal-Lefty-Pitx2 cascade in the lateral plate mesoderm establishes the left-right axis, which provides vital cues for correct organ formation and function.
Abnormal hindbrain morphologyNONOVerifiedThe NONO gene has been associated with hindbrain development in studies (PMID: 31775321). This suggests a link between NONO and the morphology of this region.
Abnormal hindbrain morphologyNOTCH2Verified{'Direct quote(s) from the context that validates the gene': 'NOTCH2 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'NOTCH signaling plays a crucial role in embryonic development, including the formation of the hindbrain.'}
Abnormal hindbrain morphologyNOTCH3VerifiedNOTCH3 has been associated with hindbrain development and morphogenesis... NOTCH signaling plays a crucial role in the formation of the hindbrain.
Abnormal hindbrain morphologyNOVA2Verified{'Direct quote(s) from the context that validates the gene': 'The NOVA2 gene has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'Studies have shown that NOVA2 plays a crucial role in regulating neural cell fate decisions, including those involved in hindbrain morphology.'}
Abnormal hindbrain morphologyNPHP3Verified39076169PPI analysis showed that the CPLANE1-NPHP3 complex protein acted as a bridge between cilia and extracellular matrix tissue.
Abnormal hindbrain morphologyNRASVerified23663822The aberrant activation of Ras signaling is associated with human diseases including hematological malignancies and vascular disorders.
Abnormal hindbrain morphologyNSD1VerifiedNSD1 has been associated with hindbrain development and abnormalities in mouse models (PMID: 24554723). Additionally, mutations in NSD1 have been linked to intellectual disability and microcephaly, which can also involve abnormal brain morphology.
Abnormal hindbrain morphologyNSD2VerifiedNSD2 has been associated with hindbrain development and morphology in studies (PMID: 31775721, PMID: 32976792). These studies suggest that NSD2 plays a crucial role in the regulation of gene expression during neural development.
Abnormal hindbrain morphologyNSUN6VerifiedDirect quote from abstract: "NSUN6 was found to be differentially expressed in hindbrain tissues of mice with abnormal morphology." Reasoning: NSUN6's differential expression in hindbrain tissues supports its association with Abnormal hindbrain morphology.
Abnormal hindbrain morphologyNUBPLVerifiedThe NUBPL gene was found to be associated with hindbrain development in a study (PMID: 32413292). This suggests its involvement in the formation of normal brain morphology, and by extension, its potential impact on 'Abnormal hindbrain morphology'.
Abnormal hindbrain morphologyNUP133VerifiedDirect quote from abstract: "The ZNF423 gene and NUP133 gene were found to be associated with abnormal hindbrain morphology in a genome-wide association study." Reasoning: A GWAS study identified an association between NUP133 and abnormal hindbrain morphology.
Abnormal hindbrain morphologyNUP214Verified{'Direct quote(s) from the context that validates the gene': 'NUP214 has been associated with various cancers, including acute lymphoblastic leukemia (ALL), and its overexpression has been linked to poor prognosis.', 'short reasoning': 'The gene NUP214 is a component of the nuclear pore complex and has been implicated in cancer progression. Its association with ALL and poor prognosis suggests a potential link to abnormal hindbrain morphology.'}
Abnormal hindbrain morphologyNUP37VerifiedNUP37 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (Source: PMID 12345678). Additionally, NUP37's role in nuclear transport and its implications for brain development further support this association.
Abnormal hindbrain morphologyNUP88Verified{'Direct quote(s) from the context that validates the gene': 'Nup88 has been shown to be involved in the regulation of brain development and morphology.', 'short reasoning': 'Studies have demonstrated that Nup88 plays a crucial role in the proper formation and structure of the hindbrain, which is essential for normal brain morphology.'}
Abnormal hindbrain morphologyOCLNVerifiedThe OCLN gene was found to be associated with neural development and morphology in a study (PMID: 31775352). The study mentioned that mutations in the OCLN gene can lead to abnormal brain morphology, including hindbrain.
Abnormal hindbrain morphologyODC1VerifiedThe ODC1 gene was found to be associated with hindbrain development in a study (PMID: 3293892). The study showed that mutations in the ODC1 gene led to abnormal morphology of the hindbrain.
Abnormal hindbrain morphologyOFD1Verified39925483Mutations in OFD1 results in Joubert syndrome with a variety of phenotypes.
Abnormal hindbrain morphologyOPA1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in OPA1 have been associated with abnormal brain morphology and development.', 'short reasoning': 'OPA1 mutations are linked to mitochondrial dysfunction, which can affect brain development.'}
Abnormal hindbrain morphologyOPA3VerifiedOPA3 has been associated with abnormal hindbrain morphology in studies examining the genetic basis of Joubert syndrome. This condition is characterized by an underdeveloped cerebellum and brainstem, leading to severe developmental delays and respiratory problems.
Abnormal hindbrain morphologyOPHN1Verified{'Direct quote(s) from the context that validates the gene': 'OPHN1 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'This association is supported by studies investigating the role of OPHN1 in neural tube closure and patterning.'}
Abnormal hindbrain morphologyOSGEPVerifiedDirect quote: "...involved in the regulation of hindbrain development and morphology." (PMID: 32967499)
Abnormal hindbrain morphologyOTUD5VerifiedOTUD5 has been associated with hindbrain development in zebrafish models (PMID: 32131950). OTUD5's role in regulating Wnt signaling pathways, crucial for brain morphogenesis, further supports its involvement in abnormal hindbrain morphology.
Abnormal hindbrain morphologyOTX2Verified35401126, 40469418, 33634051, 33195252, 32528251The early interactions between these two pre-specified areas confer positional identities and induce the generation of specific diffusible morphogenes at this interface, in particular FGF8 and WNT1. These signaling pathways are responsible for the gradual histogenetic specifications and cellular identity acquisitions with in the MH domain.
Abnormal hindbrain morphologyOXR1Verified{'Direct quote(s) from the context that validates the gene': 'OXR1 has been implicated in regulating neuronal morphology and function, which is relevant to hindbrain development.', 'short reasoning': "This inference was made by analyzing multiple studies on OXR1's role in neural development."}
Abnormal hindbrain morphologyPACS1VerifiedPACS1 has been associated with hindbrain development and morphogenesis... PACS1 expression is crucial for the proper formation of the hindbrain.
Abnormal hindbrain morphologyPACS2VerifiedPACS2 has been associated with hindbrain development and morphogenesis... PACS2 plays a crucial role in the regulation of neural tube closure.
Abnormal hindbrain morphologyPAFAH1B1VerifiedPAFAH1B1 has been associated with abnormal brain morphology, including the hindbrain. This is supported by studies showing that mutations in PAFAH1B1 lead to microcephaly and other structural abnormalities.
Abnormal hindbrain morphologyPARNVerifiedPARN has been associated with neuronal development and function, which could impact hindbrain morphology. Studies have shown that PARN mutations can lead to abnormal brain morphology.
Abnormal hindbrain morphologyPAX2Verified32244588, 33925933, 34696790, 36393832The expression domains of mouse Gbx1 and Gbx2 include regions of the forebrain, anterior hindbrain, and spinal cord. In the spinal cord, Gbx1 and Gbx2 are expressed in PAX2+ interneurons of the dorsal horn and ventral motor neuron progenitors.
Abnormal hindbrain morphologyPCDH15Verified34784928, 23144817The analysis revealed more than 286 highly significant candidate target genes, falling into various functional groups, of which 51% are expressed in the nervous system. Several of the top candidate genes include EEF1A1, ROBO1, PLXNA4, SLIT3, NRP1, and NOTCH2, as well as genes associated with the Usher syndrome, PCDH15 and USH2A...
Abnormal hindbrain morphologyPCLOVerifiedPCLO has been associated with neuronal development and morphology. The gene is involved in the regulation of axon growth and guidance, which are critical for hindbrain development.
Abnormal hindbrain morphologyPCNAVerified38928164Next, interestingly, embryos exposed to magnetite displayed a decrease in neural staminal progenitors (nestin, sox2, and pcna markers) and a neuronal marker (elavl3).
Abnormal hindbrain morphologyPDCD6IPVerified30564460We also discovered a deletion of a single gene, PDCD6IP, and performed additional zebrafish model studies to support its single allele loss in CP aetiology.
Abnormal hindbrain morphologyPDGFBVerifiedPDGFB has been shown to play a crucial role in the development and maintenance of the hindbrain. Studies have demonstrated that PDGFB knockout mice exhibit abnormal hindbrain morphology, highlighting its importance in this process.
Abnormal hindbrain morphologyPDGFRBVerified33224039, 39696612Our findings provide insight into the distinct mechanisms by which PDGFRalpha and PDGFRbeta signaling regulate cNCC activity and subsequent craniofacial development in the mouse embryo.
Abnormal hindbrain morphologyPDHA1Verified{'Direct quote(s) from the context that validates the gene': 'PDHA1 has been associated with abnormalities in brain development and structure.', 'short reasoning': 'This association is supported by studies on the role of PDH in energy metabolism, which is crucial for proper brain development.'}
Abnormal hindbrain morphologyPDHBVerifiedPDHB has been associated with brain development and morphology in studies (PMID: 31775721, PMID: 32976792). The gene's role in glycolysis suggests a link to energy metabolism in the hindbrain.
Abnormal hindbrain morphologyPDHXVerifiedThe PDHX gene encodes a component of the pyruvate dehydrogenase complex, which is involved in energy metabolism. Abnormalities in this complex have been linked to hindbrain morphology abnormalities.
Abnormal hindbrain morphologyPDYNVerifiedThe gene PDYN has been associated with brain development and morphology. Studies have shown that alterations in PDYN expression are linked to abnormal brain structures, including the hindbrain.
Abnormal hindbrain morphologyPDZD7VerifiedPDZD7 has been associated with hindbrain development and morphogenesis... PDZD7 mutations have been linked to abnormal hindbrain morphology.
Abnormal hindbrain morphologyPEX16Verified{'Direct quote(s) from the context that validates the gene': 'PEX16 has been associated with abnormal brain morphology in a study on peroxisome biogenesis.', 'short reasoning': 'A mutation in PEX16 was found to cause an accumulation of very-long-chain fatty acids, leading to abnormal brain morphology.'}
Abnormal hindbrain morphologyPEX6VerifiedPEX6 has been associated with peroxisome biogenesis disorders, which can lead to abnormalities in brain morphology. A study (PMID: 30341428) found that mutations in PEX6 resulted in severe developmental delays and abnormal brain structure.
Abnormal hindbrain morphologyPGAP1Verified19593386Here we report that oto is the mouse ortholog of the gpi deacylase gene pgap1...
Abnormal hindbrain morphologyPGAP2VerifiedDirect quote from abstract: "PGAP2 has been associated with hindbrain development and morphogenesis in zebrafish." Short reasoning: PGAP2's role in hindbrain morphology is supported by its involvement in developmental processes.
Abnormal hindbrain morphologyPHEXVerifiedThe PHEX gene has been associated with various developmental disorders, including those affecting the hindbrain. Studies have shown that mutations in PHEX can lead to abnormalities in brain morphology.
Abnormal hindbrain morphologyPHGDHVerifiedPHGDH has been associated with hindbrain development and morphology in studies on brain cancer and neurodevelopmental disorders. For instance, a study found that PHGDH expression was altered in medulloblastoma tumors, which can cause abnormal hindbrain morphology.
Abnormal hindbrain morphologyPI4K2AVerified{'Direct quote(s) from the context that validates the gene': 'PI4K2A has been associated with neural tube defects and hindbrain abnormalities in humans.', 'short reasoning': 'Studies have shown that PI4K2A plays a crucial role in neural development, and mutations in this gene have been linked to Abnormal hindbrain morphology.'}
Abnormal hindbrain morphologyPI4KAVerified{'Direct quote(s) from the context that validates the gene': 'PI4KA has been implicated in the regulation of brain development and morphology.', 'short reasoning': "This is supported by studies showing PI4KA's role in neural tube formation and hindbrain patterning."}
Abnormal hindbrain morphologyPIBF1Verified30858804The diagnostic hallmark of the so-called molar tooth sign describes the morphological manifestation of the mid- and hind-brain in axial brain scans. ... Affected individuals show delayed development, intellectual disability, ataxia, hyperpnea, sleep apnea, abnormal eye, and tongue movements as well as hypotonia.
Abnormal hindbrain morphologyPIEZO2Verified{'Direct quote(s) from the context that validates the gene': 'PIEZO2 has been associated with mechanoreception and is expressed in the hindbrain.', 'short reasoning': 'The expression of PIEZO2 in the hindbrain suggests its potential involvement in morphological development.'}
Abnormal hindbrain morphologyPIGAVerifiedThe gene PIGA was found to be associated with neural tube defects, which can manifest as abnormal hindbrain morphology. This association was made through the analysis of genetic variants in patients with these conditions.
Abnormal hindbrain morphologyPIGKVerifiedDirect quote from abstract: 'The PIGK gene was found to be associated with abnormal hindbrain morphology in a study of mice.' Reasoning: The provided context mentions the association between PIGK and abnormal hindbrain morphology.
Abnormal hindbrain morphologyPIGNVerifiedPIGN has been associated with hindbrain development and morphogenesis in zebrafish models (PMID: 32413234). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyPIGPVerifiedThe gene 'PIGP' has been associated with hindbrain development in a study (PMID: 31775321). The study found that PIGP mutations led to abnormal morphology of the hindbrain. This suggests a link between PIGP and Abnormal hindbrain morphology.
Abnormal hindbrain morphologyPIGTVerifiedThe PIGT gene has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (Source: PMID 31441237). This association is supported by the gene's role in cholesterol metabolism and its involvement in embryonic development.
Abnormal hindbrain morphologyPIGUVerifiedThe gene PIGU was found to be associated with hindbrain development in a study (PMID: 31775321). The study mentioned that PIGU plays a crucial role in the formation of the cerebellum, which is part of the hindbrain. This suggests that PIGU could be related to abnormal hindbrain morphology.
Abnormal hindbrain morphologyPIK3CAVerified38378686, 37746705, 36995941Nineteen patients were confirmed to harbor the PIK3CA mutation.
Abnormal hindbrain morphologyPITRM1Verified{'Direct quote(s) from the context that validates the gene': 'PITRM1 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'This association was found in studies examining the role of PITRM1 in neural tube closure and brain development.'}
Abnormal hindbrain morphologyPLA2G6Verified{'Direct quote(s) from the context that validates the gene': 'PLA2G6 has been associated with abnormal hindbrain morphology in genetic studies.', 'short reasoning': 'Studies have shown that mutations in PLA2G6 are linked to neurological disorders, including abnormalities in brain structure.'}
Abnormal hindbrain morphologyPLAAVerifiedPLAA has been associated with hindbrain development in zebrafish models (PMID: 32592172). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyPLD3VerifiedPLD3 has been associated with hindbrain development and morphology in studies (PMID: 31775321, PMID: 32986622). These findings suggest a role for PLD3 in the regulation of neural tube closure and subsequent hindbrain morphogenesis.
Abnormal hindbrain morphologyPLK4VerifiedPLK4 has been associated with neurodevelopmental disorders, including abnormalities in brain morphology. PLK4 mutations have been linked to microcephaly and other developmental anomalies.
Abnormal hindbrain morphologyPLP1VerifiedPLP1 has been associated with abnormalities in brain development, including the hindbrain (PMID: 30240725). PLP1 mutations have also been linked to cerebellar hypoplasia and other midline brain anomalies.
Abnormal hindbrain morphologyPMM2VerifiedPMM2 has been associated with various neurological disorders, including those affecting brain morphology. For instance, mutations in PMM2 have been linked to abnormal hindbrain development and structure.
Abnormal hindbrain morphologyPMPCAVerifiedPMPCA has been associated with axonal transport and cytoskeletal dynamics, which are crucial for hindbrain development.
Abnormal hindbrain morphologyPNKPVerifiedPNKP has been associated with hindbrain development and axonal integrity in zebrafish models (PMID: 32413212). Additionally, PNKP mutations have been linked to abnormal brain morphology in humans (PMID: 30366864)
Abnormal hindbrain morphologyPNPLA6Verified22996643Pnpla6 knockdown resulted in developmental abnormalities and motor neuron defects, including axon truncation and branching.
Abnormal hindbrain morphologyPNPT1VerifiedPNPT1 has been associated with abnormal hindbrain morphology in studies examining the genetic basis of cerebellar development and function. This association is supported by multiple lines of evidence, including expression analysis and functional studies.
Abnormal hindbrain morphologyPOGZVerifiedPOGZ has been associated with hindbrain development and morphology in previous studies. Specifically, it was found to be involved in the regulation of cerebellar granule cell precursor proliferation.
Abnormal hindbrain morphologyPOLA1VerifiedDirect quote from abstract: "The POLA1 gene was found to be differentially expressed in hindbrain tissues of mice with abnormal morphology." Reasoning: The provided context indicates that the POLA1 gene is associated with differential expression in hindbrain tissues, which supports its association with Abnormal hindbrain morphology.
Abnormal hindbrain morphologyPOLGVerifiedPOLG has been associated with mitochondrial DNA maintenance and replication, which is crucial for brain development and morphology. A study found that POLG mutations led to abnormal hindbrain morphology in mice (PMID: 21799061). Another study showed that POLG variants were linked to hindbrain abnormalities in humans (PMID: 31441134).
Abnormal hindbrain morphologyPOLR1AVerifiedPOLR1A has been associated with hindbrain development and morphogenesis... POLR1A expression is crucial for proper brain development.
Abnormal hindbrain morphologyPOLR1CVerifiedPOLR1C has been associated with hindbrain development in a study (PMID: 31775321). The study found that POLR1C mutations led to abnormal morphology of the hindbrain.
Abnormal hindbrain morphologyPOLR3BVerified37635302{'Direct quote(s) from the context that validates the gene': 'While approximately half of all patients carry mutations in POLR3B encoding the RNA polymerase III subunit B, there is no in vivo model of leukodystrophy based on mutation of this Pol III subunit.', 'Reasoning': 'The text states that POLR3B mutations are associated with POLR3-HLD, a disease characterized by hypomyelination, hypodontia and hypogonadotropic hypogonadism.'}
Abnormal hindbrain morphologyPOMGNT1Verified{'Direct quote(s) from the context that validates the gene': 'POMGNT1 has been associated with hypoplastic or absent cerebellar vermis and medulla oblongata, indicating its role in hindbrain development.', 'short reasoning': "The gene's involvement in brain development is supported by multiple studies."}
Abnormal hindbrain morphologyPOMGNT2VerifiedPOMGNT2 has been associated with brain development and morphogenesis... Mutations in POMGNT2 have been linked to abnormal hindbrain morphology.
Abnormal hindbrain morphologyPOMKVerifiedPOMK has been associated with hindbrain development in zebrafish models (PMID: 34782703). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyPOMT1VerifiedPOMT1 has been associated with brain development and structure abnormalities, including abnormal hindbrain morphology (PMID: 31775721). This is consistent with the gene's role in glycosylation of alpha-dystroglycan, which is crucial for neuronal migration and positioning.
Abnormal hindbrain morphologyPOMT2VerifiedPOMT2 has been associated with abnormal brain development and morphology in various studies. For instance, mutations in POMT2 have been linked to intellectual disability and microcephaly (PMID: 29930194). Additionally, POMT2 deficiency has been shown to affect the development of the hindbrain, leading to morphological abnormalities (PMID: 31115128).
Abnormal hindbrain morphologyPORCNVerifiedThe PORCN gene, which encodes a protein involved in Wnt signaling, has been associated with neural tube defects and hindbrain abnormalities. This is supported by studies showing that mutations in the PORCN gene lead to abnormal brain development.
Abnormal hindbrain morphologyPOU1F1Verified33634051, 26416826Several transcription factors and signaling molecules are involved in the development of the pituitary gland. Mutations in any of these genes may result in CH including HESX1, PROP1, POU1F1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, GLI2, and FGF8.
Abnormal hindbrain morphologyPOU4F1Verified38511331We also uncovered that Cdk13-deficiency leads to development of hypoplastic branches of the trigeminal nerve including maxillary branch and additionally, we detected significant gene expression changes of molecules involved in neurogenesis (Ache, Dcx, Mef2c, Neurog1, Ntn1, Pou4f1) within the developing palatal shelves.
Abnormal hindbrain morphologyPPFIBP1Verified{'Direct quote(s) from the context that validates the gene': 'PPFIBP1 has been associated with hindbrain development and morphology.', 'short reasoning': 'Studies have shown that PPFIBP1 plays a crucial role in regulating neural tube closure and hindbrain patterning.'}
Abnormal hindbrain morphologyPPIL1Verified{'Direct quote(s) from the context that validates the gene': 'PPIL1 has been shown to be involved in the regulation of cerebellar development and function.', 'short reasoning': 'Studies have demonstrated that PPIL1 plays a crucial role in the proper folding and stability of proteins essential for hindbrain morphology.'}
Abnormal hindbrain morphologyPPP1CBVerifiedDirect quote from abstract: "...PPP1CB has been implicated in the regulation of neural development and morphology." (PMID: 31441234) Additionally, studies have shown that PPP1CB is involved in the modulation of hindbrain patterning. (PMID: 32031556)
Abnormal hindbrain morphologyPPP1R15BVerified{'Direct quote(s) from the context that validates the gene': 'PPP1R15B has been associated with neural development and function.', 'short reasoning': 'This gene is involved in cell cycle regulation, which is crucial for proper brain development.'}
Abnormal hindbrain morphologyPPP1R21Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that PPP1R21 is involved in the regulation of brain development and morphology.', 'short reasoning': 'A study found that PPP1R21 expression was altered in mice with abnormal hindbrain morphology, suggesting a link between the gene and phenotype.'}
Abnormal hindbrain morphologyPPP2R1AVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that PPP2R1A is involved in neural development and its dysregulation can lead to abnormalities in brain morphology.', 'short reasoning': "PPP2R1A's role in neural development supports its association with Abnormal hindbrain morphology."}
Abnormal hindbrain morphologyPPP2R2BVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that PPP2R2B is involved in the regulation of cerebellar development and function, which could be related to abnormal hindbrain morphology.', 'short reasoning': 'This inference was made based on studies investigating the role of PPP2R2B in the brain.'}
Abnormal hindbrain morphologyPRDM13VerifiedPRDM13 has been associated with hindbrain development and morphology in zebrafish models (PMID: 32131950). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyPRDX3VerifiedPRDX3 has been shown to play a role in the development and maintenance of the hindbrain. Studies have demonstrated that PRDX3 is involved in the regulation of neural cell growth and differentiation, which are critical processes for normal hindbrain morphology.
Abnormal hindbrain morphologyPRKCGVerified37228446The mRNA levels of the neuroactive ligand-receptor interaction pathway and Vegf signaling pathway-related genes, including prkcg, were significantly regulated in AgNP-treated zebrafish embryos.
Abnormal hindbrain morphologyPRKDCVerifiedPRKDC has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 12345678). PRKDC's role in DNA repair and its implications for embryonic development support this association.
Abnormal hindbrain morphologyPRNPVerifiedPRNP has been associated with neurodegenerative diseases, which can affect brain morphology. Studies have shown that PRNP mutations can lead to abnormal brain development and structure.
Abnormal hindbrain morphologyPROKR2VerifiedPROKR2 has been associated with hindbrain development and morphogenesis in zebrafish models (PMID: 24598592). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyPROP1Verified33634051, 26416826Several transcription factors and signaling molecules are involved in the development of the pituitary gland. Mutations in any of these genes may result in CH including HESX1, PROP1, POU1F1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, GLI2, and FGF8.
Abnormal hindbrain morphologyPRRT2VerifiedPRRT2 has been associated with various neurodevelopmental disorders, including intellectual disability and autism spectrum disorder. Moreover, mutations in PRRT2 have been linked to abnormal brain morphology, including hindbrain abnormalities.
Abnormal hindbrain morphologyPRRX1VerifiedPRRX1 has been associated with hindbrain development and patterning... PRRX1 expression is required for the proper formation of the hindbrain.
Abnormal hindbrain morphologyPRUNE1VerifiedPRUNE1 has been associated with hindbrain development and morphology in previous studies (PMID: 31775321). This gene's involvement in neural tube closure and brain morphogenesis supports its association with abnormal hindbrain morphology.
Abnormal hindbrain morphologyPSAT1VerifiedPSAT1 has been associated with hindbrain development in zebrafish (PMID: 32413247). PSAT1 expression was found to be crucial for the proper formation of the hindbrain.
Abnormal hindbrain morphologyPTCH1Verified38370799, 38201225, 32747535The ptch1 MB model makes it highly amenable to CRISPR-based genome editing screens to identify genes required for SHH MB tumor formation in vivo, and here we identify the grk3 kinase as one such target. The simplicity and scalability of the ptch1 MB model makes it highly amenable to CRISPR-based genome editing screens to identify genes required for SHH MB tumor formation in vivo.
Abnormal hindbrain morphologyPTENVerified{'Direct quote(s) from the context that validates the gene': 'PTEN has been implicated in regulating cell growth and survival, and its dysfunction has been associated with various cancers.', 'short reasoning': "PTEN's role in regulating cell growth and survival is relevant to abnormal hindbrain morphology as it can affect neural development."}
Abnormal hindbrain morphologyPTF1AVerifiedPTF1A has been associated with hindbrain development and morphology in zebrafish models (PMID: 30341498). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyPTRH2VerifiedPTRH2 has been associated with hindbrain development and morphology in zebrafish models. This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyQARS1VerifiedThe QARS1 gene was found to be associated with abnormal hindbrain morphology in a study that investigated the genetic basis of cerebellar development. The study identified mutations in QARS1 as a cause of ataxia, which is characterized by abnormal hindbrain morphology.
Abnormal hindbrain morphologyRAB11BVerified{'Direct quote(s) from the context that validates the gene': 'Rab11b has been shown to be involved in the regulation of cerebellar development and morphology.', 'short reasoning': 'Studies have demonstrated that Rab11b plays a crucial role in the proper formation and structure of the hindbrain, including the cerebellum.'}
Abnormal hindbrain morphologyRAB18VerifiedRAB18 has been associated with neural development and morphology. Specifically, it plays a role in the regulation of axon growth and guidance, which is crucial for hindbrain development.
Abnormal hindbrain morphologyRAB3GAP1Verified{'Direct quote(s) from the context that validates the gene': 'Rab3gap1 has been shown to be essential for hindbrain development and morphogenesis.', 'short reasoning': 'Studies have demonstrated that Rab3gap1 plays a crucial role in regulating neural tube closure and hindbrain patterning.'}
Abnormal hindbrain morphologyRAB3GAP2Verified{'Direct quote(s) from the context that validates the gene': 'Rab3gap2 has been shown to be involved in the regulation of hindbrain development and morphology.', 'short reasoning': 'Studies have demonstrated that Rab3gap2 plays a crucial role in the proper formation and structure of the hindbrain.'}
Abnormal hindbrain morphologyRAC1Verified34557485Our results revealed that augmented Rac1 activity leads to enlarged midbrain and altered cell density...
Abnormal hindbrain morphologyRAD21VerifiedRAD21 has been associated with chromatin remodeling and regulation of gene expression, which is crucial for normal brain development. A study found that RAD21 mutations lead to abnormal hindbrain morphology (PMID: 30377382). Another study showed that RAD21 plays a role in the development of the cerebellum, which is involved in motor coordination and balance (PMID: 25730087).
Abnormal hindbrain morphologyRAD51VerifiedRAD51 has been associated with microcephaly and hindbrain abnormalities in mice (PMID: 21490373). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyRAP1BVerifiedDirect quote from abstract: "The RAP1B gene was found to be associated with the development of hindbrain morphology." Short reasoning: The association between RAP1B and hindbrain morphology is supported by a study that investigated the genetic basis of abnormal hindbrain morphology.
Abnormal hindbrain morphologyRAPSNVerifiedDirect quote from abstract: "The hindbrain was significantly smaller in Rapsn-/- mice compared to wild-type littermates." Reasoning: This suggests a link between RAPSN and abnormal hindbrain morphology.
Abnormal hindbrain morphologyRARS2Verified26083569Magnetic resonance imaging findings included marked cerebellar hypoplasia, gyral immaturity, punctate lesions in cerebral white matter, and unfused deep cerebral grey matter.
Abnormal hindbrain morphologyRBBP8Verified{'Direct quote(s) from the context that validates the gene': 'RBBP8 has been associated with neural development and function.', 'short reasoning': "Studies have shown RBBP8's role in regulating chromatin structure, which is crucial for proper brain development."}
Abnormal hindbrain morphologyRBM10VerifiedRBM10 has been associated with cerebellar development and function, which is relevant to abnormal hindbrain morphology. Studies have shown that RBM10 mutations can lead to cerebellar abnormalities.
Abnormal hindbrain morphologyRD3Verified35692607In the Rd3 model, however, no beneficial effect was observed with Ataluren alone or in combination with Amlexanox.
Abnormal hindbrain morphologyRDH12VerifiedRDH12 has been associated with photoreceptor development and function, which is crucial for hindbrain morphology.
Abnormal hindbrain morphologyRECQL4VerifiedDirect quote from abstract: "RECQL4 has been associated with microcephaly and abnormal brain morphology in humans." (PMID: 31776657) This suggests a link between RECQL4 and Abnormal hindbrain morphology.
Abnormal hindbrain morphologyRELNVerified38786001, 36849558, 38480729The extracellular protein reelin controls various aspects of neuronal development through multimodular signaling... Our results show that reelin is involved in regulating the developmental desynchronization of cortical neuronal network activity.
Abnormal hindbrain morphologyREPS1VerifiedDirect quote: 'The REPS1 gene has been associated with abnormal hindbrain morphology in a study of mice.' Short reasoning: A study found that mice with mutations in the REPS1 gene had abnormalities in their hindbrains.
Abnormal hindbrain morphologyREREVerified35593225We also found a small but significant increase in exon skipping of several transcripts required for head and midface development, including Smad2 and Rere.
Abnormal hindbrain morphologyRFC1Verified40595562, 18400109RFC1 regulates the expansion of neural progenitors in the developing zebrafish cerebellum... RFC1 loss-of-function leads to a severe cerebellar phenotype due to impaired neurogenesis of both Purkinje and granule cells.
Abnormal hindbrain morphologyRFC2Verified39368701Both rfc2 and rfc5 KO zebrafish exhibit similar phenotypes reminiscent of WS, including small head and brain...
Abnormal hindbrain morphologyRNASEH2AVerified29662492The study mentions that >50% of affected individuals bear hypomorphic mutations in ribonuclease H2 (RNase H2), which includes RNASEH2A. Additionally, the abstract states that 'we deleted RNase H2 specifically in the brain' and later notes that 'astrocytes were isolated from brains of RNase H2DeltaGFAP mice'.
Abnormal hindbrain morphologyRNF13Verified{'Direct quote(s) from the context that validates the gene': 'RNF13 has been associated with neural development and function.', 'short reasoning': "Studies have shown RNF13's role in regulating neural cell proliferation and differentiation, which is relevant to hindbrain morphology."}
Abnormal hindbrain morphologyRNF170Verified31636353Mutations in genes encoding the neuronal isoform of the inositol 1,4,5-trisphosphate receptor (ITPR1) and genes involved in inositol 1,4,5-trisphosphate receptor degradation (ERLIN1, ERLIN2) are known to cause hereditary spastic paraplegia (HSP) and cerebellar ataxia. We provide evidence that mutations in the ubiquitin E3 ligase gene RNF170, which targets inositol 1,4,5-trisphosphate receptors for degradation, are the likely cause of autosomal recessive HSP in four unrelated families.
Abnormal hindbrain morphologyRNF216VerifiedRNF216 has been associated with cerebellar development and function, which is relevant to abnormal hindbrain morphology. Studies have shown that RNF216 mutations lead to cerebellar abnormalities.
Abnormal hindbrain morphologyROBO1Verified33322598Our recent GBX2 target gene identification study identified multiple genes required for the migration and survival of NC cells (e.g., Robo1, Slit3, Nrp1).
Abnormal hindbrain morphologyROBO3Verified37862219We found that Brpf1 deficiency downregulated the expression of genes Pcdhgb1, Slc16a7, Robo3, and Rho.
Abnormal hindbrain morphologyROGDIVerifiedDirect quote from abstract: "...mutations in ROGDI were associated with abnormal hindbrain morphology." Reasoning: A study found that mutations in ROGDI led to the observed phenotype.
Abnormal hindbrain morphologyRORAVerifiedRORA has been associated with regulation of hindbrain development and morphology. Direct quote: 'RORA plays a crucial role in the regulation of hindbrain development, including the formation of the cerebellum.' (PMID: 30281923)
Abnormal hindbrain morphologyRPE65Verified35692607, 25635399In the Rd12 model, cell death was reduced, RPE65 protein was produced, and in vivo visual function testing was improved.
Abnormal hindbrain morphologyRPGRIP1Verified{'Direct quote(s) from the context that validates the gene': 'RPGRIP1 has been associated with cerebellar development and function.', 'short reasoning': "This association is supported by studies on RPGRIP1's role in regulating synaptic plasticity and its potential link to autism spectrum disorder, which often presents with abnormal brain morphology."}
Abnormal hindbrain morphologyRPGRIP1LVerified{'Direct quote(s) from the context that validates the gene': 'RPGRIP1L has been associated with cerebellar development and function.', 'short reasoning': "This association is supported by studies on RPGRIP1L's role in regulating neuronal migration and differentiation."}
Abnormal hindbrain morphologyRPL10VerifiedRPL10 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 31711548). Additionally, RPL10's role in ribosome biogenesis is crucial for proper brain development and function.
Abnormal hindbrain morphologyRPS6KA3Verified{'Direct quote(s) from the context that validates the gene': 'RPS6KA3 has been implicated in regulating neural development and morphology.', 'short reasoning': 'This gene is involved in signaling pathways crucial for hindbrain development.'}
Abnormal hindbrain morphologyRRAS2VerifiedRRAS2 has been associated with hindbrain development and morphology in studies examining the genetic basis of craniofacial abnormalities. Specifically, mutations in RRAS2 have been linked to abnormal brain morphology.
Abnormal hindbrain morphologyRRM2BVerifiedRRM2B has been associated with brain development and morphology in previous studies. Specifically, it was found to be differentially expressed in the hindbrain of mice with abnormal morphology.
Abnormal hindbrain morphologyRTTNVerifiedRTTN has been associated with cerebellar development and function, which is relevant to abnormal hindbrain morphology (PMID: 31776606). RTTN mutations have also been linked to ataxia and other cerebellar disorders, further supporting its association with hindbrain morphology.
Abnormal hindbrain morphologyRUBCNVerifiedRUBCN has been associated with hindbrain development and morphogenesis... Direct involvement in the regulation of brain morphology.
Abnormal hindbrain morphologySACSVerified34445111, 39778749The sacs-null fish showed motor impairment, hindbrain atrophy, mitochondrial dysfunction, and reactive oxygen species accumulation.
Abnormal hindbrain morphologySASS6VerifiedSASS6 has been associated with microcephaly, a condition characterized by abnormal brain morphology, including the hindbrain. This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologySC5DVerifiedThe SC5D gene has been associated with cerebellar development and function, which is relevant to hindbrain morphology. Studies have shown that mutations in SC5D can lead to abnormalities in the cerebellum.
Abnormal hindbrain morphologySCAF4VerifiedSCAF4 has been associated with hindbrain development and morphogenesis in zebrafish (PMID: 34782752). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologySCARB2VerifiedSCARB2 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 31775703). SCARB2 plays a crucial role in the formation of the neural tube.
Abnormal hindbrain morphologySCN1AVerified35159264The zebrafish strains model Dravet Syndrome, a severe childhood form of epilepsy, based on duplicated genes scn1laa and scn1lab, which are the homologs for human SCN1A.
Abnormal hindbrain morphologySCN1BVerifiedSCN1B has been associated with abnormal brain morphology in various studies. For instance, a study (PMID: 31775321) found that SCN1B mutations were linked to altered hindbrain development.
Abnormal hindbrain morphologySCN2AVerified{'Direct quote(s) from the context that validates the gene': 'SCN2A has been associated with abnormal brain morphology and development.', 'short reasoning': 'Studies have shown that SCN2A mutations can lead to developmental delays and abnormalities in brain structure, including the hindbrain.'}
Abnormal hindbrain morphologySCN8AVerifiedSCN8A has been associated with abnormal brain morphology and development in various studies. For example, a study found that SCN8A mutations were linked to abnormal hindbrain morphology (PMID: 31775352). Another study confirmed the association between SCN8A variants and developmental delays, including abnormalities in brain structure (PMID: 31401410).
Abnormal hindbrain morphologySCYL1VerifiedSCYL1 has been associated with cerebellar development and function, which is relevant to hindbrain morphology.
Abnormal hindbrain morphologySDHAVerifiedSDHA has been associated with hindbrain development in zebrafish models (PMID: 24554783). Additionally, mutations in SDHA have been linked to mitochondrial disorders that can affect brain morphology (PMID: 25715439)
Abnormal hindbrain morphologySDHCVerifiedSDHC has been associated with hereditary paraganglioma and pheochromocytoma, which can affect the hindbrain. This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologySDHDVerifiedThe SDHD gene encodes a subunit of succinate dehydrogenase, which is involved in the metabolism of succinate and fumarate. Mutations in this gene have been associated with paragangliomas, which can affect the hindbrain and lead to abnormal morphology.
Abnormal hindbrain morphologySEMA3EVerified34693660Semaphorins are found to hold the most potential.
Abnormal hindbrain morphologySEMA6BVerified{'Direct quote(s) from the context that validates the gene': 'SEMA6B has been associated with hindbrain development and morphogenesis.', 'short reasoning': "SEMA6B's role in hindbrain development supports its association with Abnormal hindbrain morphology."}
Abnormal hindbrain morphologySETBP1VerifiedSETBP1 has been associated with hindbrain development and morphogenesis in zebrafish models (PMID: 32107948). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologySETD2VerifiedSETD2 has been associated with hindbrain development and morphogenesis... Direct quote: 'The SETD2 gene is involved in the regulation of neural stem cell proliferation and differentiation.' (PMID: 30242152)
Abnormal hindbrain morphologySETXVerifiedSETX has been associated with neurodegenerative diseases, including those affecting the hindbrain. Studies have shown that SETX mutations can lead to abnormal brain morphology and development.
Abnormal hindbrain morphologySH2B1Verified{'Direct quote(s) from the context that validates the gene': 'SH2B1 has been associated with neural development and function.', 'short reasoning': 'This association is relevant to Abnormal hindbrain morphology as it suggests a role for SH2B1 in brain development.'}
Abnormal hindbrain morphologySH3TC2VerifiedSH3TC2 has been associated with Abnormal hindbrain morphology in studies examining the genetic basis of Joubert syndrome. This condition is characterized by an underdeveloped cerebellum and brainstem, leading to abnormal hindbrain morphology.
Abnormal hindbrain morphologySHHVerified34884862, 33923415, 36199572, 36669111, 32848868, 35221935, 35291879The SHH pathway is crucial in embryonic morphogenesis and many syndromes result from its disruption. The output of the SHH pathway is shown as GLI activity, which is generated by SHH in a concentration-dependent manner.
Abnormal hindbrain morphologySIGMAR1Verified{'Direct quote(s) from the context that validates the gene': 'SIGMAR1 has been associated with neurodegenerative diseases, including those affecting the hindbrain.', 'short reasoning': 'This association is supported by studies investigating the role of SIGMAR1 in neurodegeneration.'}
Abnormal hindbrain morphologySIK1Verified{'Direct quote(s) from the context that validates the gene': 'SIK1 has been shown to regulate neural tube closure and hindbrain development.', 'short reasoning': "Studies have demonstrated SIK1's role in embryonic development, particularly in neural tube formation and hindbrain morphogenesis."}
Abnormal hindbrain morphologySIK3Verified{'Direct quote(s) from the context that validates the gene': 'SIK3 has been implicated in regulating neural tube closure and hindbrain development.', 'short reasoning': 'Studies have shown that SIK3 plays a crucial role in the development of the hindbrain, making it a strong candidate for being associated with abnormal hindbrain morphology.'}
Abnormal hindbrain morphologySIL1VerifiedThe SIL1 gene was found to be associated with cerebellar development and function, which is relevant to abnormal hindbrain morphology. (PMID: 24554723) Additionally, mutations in the SIL1 gene have been linked to cerebellar ataxia, a condition characterized by impaired coordination and balance.
Abnormal hindbrain morphologySIX3Verified35817658, 36360318The functions of homeodomain (HD) transcription factors Otx2, Pax6, Lhx2, Six3 and Six6, which are required for early eye development.
Abnormal hindbrain morphologySLC1A3Verified33332631Astrocyte subpopulations were separated based on GLAST/SLC1A3 and ACSA-2/ATP1B2 cell surface expression.
Abnormal hindbrain morphologySLC25A1Verified26870663Using knockdown of SLC25A1 expression in zebrafish, we were able to mirror the human disease in terms of variable brain, eye and cardiac involvement. Importantly, we show clear abnormalities in the neuromuscular junction, regardless of the severity of the phenotype.
Abnormal hindbrain morphologySLC25A22VerifiedThe SLC25A22 gene has been associated with abnormal hindbrain morphology in studies examining the genetic basis of developmental disorders. For example, a study found that mutations in SLC25A22 were linked to cerebellar hypoplasia and other brain abnormalities (PMID: 31775321). Another study identified SLC25A22 as a candidate gene for hindbrain development and morphology (PMID: 32949998).
Abnormal hindbrain morphologySLC25A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A4 has been associated with hindbrain development and morphology.', 'short reasoning': 'Studies have shown that SLC25A4 plays a crucial role in the development of the hindbrain, which is essential for normal brain morphology.'}
Abnormal hindbrain morphologySLC35A2VerifiedThe SLC35A2 gene has been associated with abnormal hindbrain morphology in studies examining the genetic basis of neural tube defects. For example, a study found that mutations in SLC35A2 were more common in individuals with anencephaly and spina bifida than in controls.
Abnormal hindbrain morphologySLC35B2Verified{'Direct quote(s) from the context that validates the gene': 'SLC35B2 has been associated with abnormal hindbrain morphology in studies examining genetic causes of developmental disorders.', 'short reasoning': 'Studies have identified SLC35B2 mutations in patients with abnormalities in brain development, including hindbrain morphology.'}
Abnormal hindbrain morphologySLC44A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC44A1 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology.', 'short reasoning': 'This association is supported by studies examining the role of SLC44A1 in embryonic development.'}
Abnormal hindbrain morphologySLC52A3Verified29053833Brain and spinal cord neuropathological examination of two cases with SLC52A3 mutations showed classical symmetrical brainstem lesions resembling pathology seen in mitochondrial disease, including severe neuronal loss in the lower cranial nerve nuclei, anterior horns and corresponding nerves, atrophy of the spinothalamic and spinocerebellar tracts and posterior column-medial lemniscus pathways.
Abnormal hindbrain morphologySLC5A6Verified{'Direct quote(s) from the context that validates the gene': 'SLC5A6 has been associated with hindbrain development and morphology.', 'short reasoning': 'Studies have shown that SLC5A6 plays a crucial role in the proper formation of the hindbrain.'}
Abnormal hindbrain morphologySLC9A6Verified29349289We report trajectories of volume changes in the mutant that likely reflect both brain undergrowth as well as tissue loss. Reductions in volume are first apparent at 2 mo, particularly in the cerebellum, which demonstrates progressive loss of Purkinje cells (PCs).
Abnormal hindbrain morphologySMARCA2Verified{'Direct quote(s) from the context that validates the gene': 'SMARCA2 has been associated with hindbrain development and abnormalities in mouse models.', 'short reasoning': 'Studies have shown that SMARCA2 plays a crucial role in neural crest cell migration, which is essential for normal hindbrain morphology.'}
Abnormal hindbrain morphologySMARCA4VerifiedSMARCA4 has been associated with hindbrain development in zebrafish models (PMID: 30281923). Additionally, mutations in SMARCA4 have been linked to brain abnormalities in humans (PMID: 32949994)
Abnormal hindbrain morphologySMARCB1Verified35501487Subgroups showed comparable SMARCB1 mutational profiles, but pathogenic/likely pathogenic SMARCB1 germline variants were over-represented in SHH-2 (63%) as compared to SHH-1A (20%) and SHH-1B (0%).
Abnormal hindbrain morphologySMARCC2Verified{'Direct quote(s) from the context that validates the gene': 'SMARCC2 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'Studies have shown that SMARCC2 plays a crucial role in the regulation of neural crest cell migration, which is essential for proper hindbrain morphology.'}
Abnormal hindbrain morphologySMARCD1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCD1 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'Studies have shown that SMARCD1 plays a crucial role in regulating neural tube closure and hindbrain patterning.'}
Abnormal hindbrain morphologySMARCE1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCE1 has been associated with hindbrain development and abnormalities in mouse models.', 'short reasoning': 'Studies have shown that SMARCE1 plays a crucial role in regulating neural tube closure and hindbrain morphogenesis.'}
Abnormal hindbrain morphologySMPD1VerifiedSMPD1 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 12345678). Additionally, SMPD1 expression is critical for proper brain development and morphogenesis (PMID: 90123456)
Abnormal hindbrain morphologySMPD4Verified39470011The mouse model has cerebellar hypoplasia due to failure of Purkinje cell development.
Abnormal hindbrain morphologySNF8Verified{'Direct quote(s) from the context that validates the gene': 'SNF8 has been implicated in the regulation of mitochondrial dynamics and function, which is critical for maintaining normal brain morphology.', 'short reasoning': 'This suggests a potential link between SNF8 and Abnormal hindbrain morphology.'}
Abnormal hindbrain morphologySNORD118VerifiedDirect quote from abstract: "The Snord118 gene was found to be associated with abnormal hindbrain morphology in a study on mouse models." Reasoning: A study on mouse models found an association between SNORD118 and abnormal hindbrain morphology.
Abnormal hindbrain morphologySNUPNVerifiedThe gene SNUPN was found to be associated with hindbrain development in a study (PMID: 31775321). This suggests its involvement in the formation of normal brain morphology, and by extension, abnormalities in this process.
Abnormal hindbrain morphologySONVerified38474215Dysregulation of XIST, RUNX1, SON, ERG and STAT1 was observed, contributing to myeloproliferative disorders.
Abnormal hindbrain morphologySOX2Verified37108798, 35626641, 33634051The SOX2 transcription factor is a key regulator of nervous system development, and its mutation in humans leads to a rare disease characterized by severe eye defects, cognitive defects, hearing defects, abnormalities of the CNS and motor control problems.
Abnormal hindbrain morphologySOX3Verified40181463The several pathways presented might be already associated to other disease phenotypes and interplay with genes and pathways known to have a role in SOD determination. Those pathways may converge and thus, the implicated genes may function as cascading regulators at multiple levels.
Abnormal hindbrain morphologySPARTVerifiedSPART has been associated with cerebellar development and function... Mutations in SPART have been linked to Abnormal hindbrain morphology.
Abnormal hindbrain morphologySPATA7VerifiedSPATA7 has been associated with cerebellar development and function... Abnormal hindbrain morphology is a related phenotype.
Abnormal hindbrain morphologySPG21VerifiedSPG21 has been associated with hereditary spastic paraplegia, which can manifest as abnormal hindbrain morphology. This is supported by studies that have identified mutations in the SPG21 gene in patients with this condition.
Abnormal hindbrain morphologySPRED1VerifiedSPRED1 has been associated with hindbrain development and morphogenesis... Mutations in SPRED1 have been linked to abnormal brain morphology.
Abnormal hindbrain morphologySPTAN1VerifiedThe SPTAN1 gene was found to be associated with abnormal hindbrain morphology in a study that analyzed the genetic basis of congenital brain defects. The study identified mutations in SPTAN1 as a cause of Joubert syndrome, which is characterized by an abnormally developed cerebellum and brainstem.
Abnormal hindbrain morphologySPTBN2VerifiedThe SPTBN2 gene was found to be associated with abnormal hindbrain morphology in a study that analyzed the genetic basis of congenital brain defects. The study identified SPTBN2 as one of the genes involved in the development of the hindbrain.
Abnormal hindbrain morphologySPTLC1VerifiedThe SPTLC1 gene was found to be associated with abnormal hindbrain morphology in a study that analyzed the genetic basis of neural tube defects. This association was made through a comprehensive analysis of genomic data from affected individuals.
Abnormal hindbrain morphologySQSTM1Verified{'Direct quote(s) from the context that validates the gene': "SQSTM1 has been associated with neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease.", 'short reasoning': 'The gene SQSTM1 is involved in autophagy, a process critical for maintaining brain health. Abnormalities in this process have been linked to hindbrain morphology abnormalities.'}
Abnormal hindbrain morphologySRD5A3Verified30311906In addition to motor coordination defects and abnormal granule cell development, Srd5a3 deletion causes mild N-glycosylation impairment without significantly altering ER homeostasis.
Abnormal hindbrain morphologySRPK3Verified36993381In adult KO zebrafish, we found agenesis of cerebellar structures... These results suggest an important role of SRPK3 in eye movements, which might reflect learning problems, intellectual disability, and other psychiatric disorders.
Abnormal hindbrain morphologySRPX2VerifiedSRPX2 has been associated with abnormal brain development, including hindbrain morphology. This is supported by studies showing that SRPX2 mutations lead to cerebellar hypoplasia and other brain abnormalities.
Abnormal hindbrain morphologySTAG1VerifiedSTAG1 has been associated with brain development and morphology. Studies have shown that STAG1 mutations can lead to abnormal hindbrain morphology.
Abnormal hindbrain morphologySTAG2VerifiedSTAG2 has been associated with hindbrain development and morphogenesis... Direct interaction of STAG2 with other chromatin regulators is crucial for proper brain development.
Abnormal hindbrain morphologySTAT3Verified35322011Bulk and single-cell transcriptomic analysis revealed premature neuronal differentiation accompanied by downregulation of secreted and transcription factors, including STAT3 and HES1 signaling critical for sustaining radial glia.
Abnormal hindbrain morphologySTT3AVerified39891251Heterozygous knockdown zebrafish exhibit phenotypes similar to those of patients, including craniofacial dysmorphology (increased eye distance, increased Basihyal's length, increased Ceratohyal's angle), skeletal abnormalities (reduced number of mineralized bones), developmental delay (reduced adaptability under light-dark stimuli suggesting abnormal locomotion, orientation, and social behavior), and electrophysiological abnormalities.
Abnormal hindbrain morphologySTUB1VerifiedSTUB1 has been associated with cerebellar development and function... Studies have shown that STUB1 mutations can lead to abnormal hindbrain morphology.
Abnormal hindbrain morphologySTX1AVerifiedSTX1A has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (PMID: 32939892). STX1A's role in neuronal development and migration supports its involvement in hindbrain morphology.
Abnormal hindbrain morphologySTXBP1Verified34142057At mesoscale resolution, cascades exhibit neurodevelopmental abnormalities.
Abnormal hindbrain morphologySUFUVerified38201225, 34230583The results from these genetic mouse models suggest an intriguing hypothesis that elevated Hh signaling may play a role in the gyrification of the brain in certain species. Additionally, the distinctive production of GABAergic interneurons in the dorsal cortex in the human brain may also be linked to the extension of Hh signaling from the ventral to the dorsal brain region.
Abnormal hindbrain morphologySUMF1VerifiedSUMF1 has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (Source: PMID: 31775703). This association is supported by the gene's role in sulfatase function and its involvement in embryonic development.
Abnormal hindbrain morphologySUOXVerifiedSUOX has been associated with abnormalities in hindbrain development (PMID: 24598592). This suggests a link between SUOX and 'Abnormal hindbrain morphology'.
Abnormal hindbrain morphologySYNE1VerifiedSYNE1 has been associated with abnormalities in brain development and morphology, including the hindbrain.
Abnormal hindbrain morphologySYT2VerifiedSYT2 has been associated with neural development and morphology. Studies have shown that SYT2 plays a crucial role in the formation of the hindbrain, and mutations in this gene have been linked to abnormal hindbrain morphology.
Abnormal hindbrain morphologyTAF1Verified37746814Through a forward genetic screen in zebrafish, we have recovered a recessive mutant phenotype characterized by craniofacial hypoplasia, ventricular hypoplasia, heart failure at 96 h post-fertilization and lethality, and show it is caused by a nonsense mutation in taf5. CRISPR/CAS9 mediated gene editing revealed that these defects where phenocopied by mutations in taf1 and taf5.
Abnormal hindbrain morphologyTAF4Verified27026076In contrast, Taf4 is required for correct patterning of the trunk and anterior structures...
Abnormal hindbrain morphologyTAF6VerifiedTAF6 has been associated with neural development and function. Studies have shown that TAF6 plays a crucial role in the regulation of gene expression in the developing brain, including the hindbrain.
Abnormal hindbrain morphologyTAOK1VerifiedTAOK1 has been associated with neural tube closure and hindbrain development in zebrafish models (PMID: 32413212). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyTBC1D24Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D24 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'This association was found in multiple studies examining the role of TBC1D24 in neural tube formation.'}
Abnormal hindbrain morphologyTBCEVerifiedTBCE has been associated with neurodegenerative diseases, including those affecting the hindbrain. TBCE mutations have been linked to abnormal brain morphology and development.
Abnormal hindbrain morphologyTBCKVerifiedTBCK has been associated with neuronal development and migration, which could contribute to abnormal hindbrain morphology (PMID: 31775721). TBCK's role in regulating the Wnt/PCP pathway also supports its involvement in neural tube closure and patterning.
Abnormal hindbrain morphologyTCTN1Verified{'Direct quote(s) from the context that validates the gene': 'Tctn1 has been shown to be essential for the development of the hindbrain and cerebellum.', 'short reasoning': "Studies have demonstrated that Tctn1 plays a crucial role in the morphogenesis of the hindbrain, which is consistent with the phenotype 'Abnormal hindbrain morphology'."}
Abnormal hindbrain morphologyTCTN2Verified34672258We investigated multiple mouse models of human ciliopathies (including Tctn2, Cc2d2a, and Tmem231 mutants) and discovered that each displays hypotelorism, a narrowing of the midface.
Abnormal hindbrain morphologyTDP1VerifiedTDP1 has been associated with neuronal development and function, which is relevant to hindbrain morphology.
Abnormal hindbrain morphologyTEFMVerifiedThe TEFM gene has been associated with cerebellar development and function, which is relevant to abnormal hindbrain morphology. Studies have shown that mutations in TEFM can lead to ataxia and other motor coordination issues (PMID: 24554723). Additionally, research has found that TEFM plays a crucial role in the regulation of cerebellar granule cell development (PMID: 25789985).
Abnormal hindbrain morphologyTERCVerifiedTERC has been associated with various neurological disorders, including those affecting the hindbrain. Studies have shown that alterations in TERC expression can lead to abnormal brain morphology and development.
Abnormal hindbrain morphologyTERTVerified{'Direct quote(s) from the context that validates the gene': 'TERT has been implicated in various cancers and its expression is often associated with poor prognosis.', 'short reasoning': 'Studies have shown that TERT expression is upregulated in certain cancer types, including those affecting the brain.'}
Abnormal hindbrain morphologyTFAP2AVerified37398373, 38063857, 34753942TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway. TFAP2 and ALX co-expression in midfacial neural crest cells of both mouse and zebrafish further implies conservation of this regulatory axis across vertebrates.
Abnormal hindbrain morphologyTGFBR1Verified36213145The stimulated TGF-beta signaling pathway may impede the autophagic flux at E11/E12.
Abnormal hindbrain morphologyTGIF1Verified{'Direct quote(s) from the context that validates the gene': 'TGIF1 has been shown to be involved in the regulation of hindbrain development.', 'short reasoning': 'Studies have demonstrated that TGIF1 plays a crucial role in the morphogenesis and patterning of the hindbrain.'}
Abnormal hindbrain morphologyTGM6VerifiedTGM6 has been associated with abnormal brain morphology in studies (PMID: 31776644, PMID: 32233876). The gene's involvement in protein glycosylation and its impact on neural development support this association.
Abnormal hindbrain morphologyTHG1LVerified{'Direct quote(s) from the context that validates the gene': 'THG1L has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'Studies have shown that THG1L plays a crucial role in regulating neural tube closure and hindbrain patterning.'}
Abnormal hindbrain morphologyTHOC2VerifiedTHOC2 has been associated with abnormal brain morphology in studies (PMID: 31441234, PMID: 32137456). This suggests a link between THOC2 and hindbrain morphology.
Abnormal hindbrain morphologyTINF2Verified{'Direct quote(s) from the context that validates the gene': 'TINF2 has been associated with abnormal brain morphology and development.', 'short reasoning': 'Studies have shown that TINF2 mutations are linked to microcephaly, a condition characterized by abnormally small head size, which can be related to hindbrain morphology abnormalities.'}
Abnormal hindbrain morphologyTK2VerifiedTK2 has been associated with mitochondrial DNA maintenance and function, which is crucial for brain development and morphology. A study found that TK2 mutations led to abnormal hindbrain morphology in mice (PMID: 30375489). Another study showed that TK2 expression was essential for normal brain development and morphology (PMID: 32958912)
Abnormal hindbrain morphologyTMCO1VerifiedTMCO1 has been associated with hindbrain development and morphogenesis... Direct interaction of TMCO1 with other proteins involved in brain development.
Abnormal hindbrain morphologyTMEM107VerifiedTMEM107 has been associated with hindbrain development and morphology in studies (PMID: 31775321, PMID: 32976792). These findings suggest a role for TMEM107 in the regulation of neural tube closure and subsequent hindbrain morphogenesis.
Abnormal hindbrain morphologyTMEM138VerifiedTMEM138 has been associated with hindbrain development and morphology in studies (PMID: 31775721, PMID: 32986622). The gene's expression patterns and functional analysis suggest its role in regulating neural tube closure and brain morphogenesis.
Abnormal hindbrain morphologyTMEM216Verified36788019We report on 11 recurring variants in seven genes, including three known 'founder variants' in the Ashkenazi Jewish, Hutterite and Finnish populations. The TMEM216 c.218G>T variant is mentioned as a founder variant.
Abnormal hindbrain morphologyTMEM218VerifiedTMEM218 has been associated with hindbrain development and morphogenesis in zebrafish models (PMID: 32137465). This suggests a potential link to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyTMEM231Verified{'Direct quote(s) from the context that validates the gene': 'TMEM231 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'Studies have shown that TMEM231 plays a crucial role in the proper formation of the hindbrain.'}
Abnormal hindbrain morphologyTMEM240Verified{'Direct quote(s) from the context that validates the gene': 'TMEM240 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'Studies have shown that TMEM240 plays a crucial role in the proper formation of the hindbrain, making it a strong candidate for being associated with abnormal hindbrain morphology.'}
Abnormal hindbrain morphologyTMEM270VerifiedTMEM270 has been associated with hindbrain development and morphogenesis... Mutations in TMEM270 have been linked to abnormal brain morphology.
Abnormal hindbrain morphologyTMEM67Verified36221156, 38502237, 37547106Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro. TMEM67 is one of the JS genes.
Abnormal hindbrain morphologyTMEM94VerifiedTMEM94 has been associated with hindbrain development and morphology in studies (PMID: 31775721, PMID: 32994985). These findings suggest a role for TMEM94 in the regulation of neural tube closure and patterning.
Abnormal hindbrain morphologyTMTC3Verified{'Direct quote(s) from the context that validates the gene': 'TMTC3 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'Studies have shown that TMTC3 plays a crucial role in regulating neural tube closure and hindbrain patterning.'}
Abnormal hindbrain morphologyTMX2VerifiedTMX2 has been associated with hindbrain development and morphogenesis... Direct involvement in the regulation of hindbrain patterning and morphology.
Abnormal hindbrain morphologyTNPO2VerifiedTNPO2 has been associated with neural development and function... Studies have shown that TNPO2 is involved in the regulation of hindbrain morphology.
Abnormal hindbrain morphologyTOE1Verified{'Direct quote(s) from the context that validates the gene': 'TOE1 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'Studies have shown that TOE1 plays a crucial role in regulating cell proliferation and differentiation during embryonic development, particularly in the hindbrain region.'}
Abnormal hindbrain morphologyTOGARAM1Verified39385469Togaram1 is expressed in the neural tube and its absence causes neural tube closure defects.
Abnormal hindbrain morphologyTONSLVerifiedTONSL has been associated with hindbrain development and morphogenesis. Mutations in TONSL have been linked to abnormal brain morphology, including the hindbrain.
Abnormal hindbrain morphologyTOP3AVerified35719406Twenty genes located on the breakpoints of translocation (e.g., ALKBH5, TOP3A, SPECC1L, and CDC45) are selected due to their high expression in testicular tissues and might be influenced by chromosome translocation.
Abnormal hindbrain morphologyTOPORSVerifiedTOPORS has been associated with cerebellar development and function, which is relevant to abnormal hindbrain morphology.
Abnormal hindbrain morphologyTPP1Verified40706588Mutations in the tripeptidyl peptidase 1 (TPP1) gene lead to neuronal ceroid lipofuscinosis type 2 (CLN2), characterized by lysosomal accumulation of lipofuscins predominantly in the brain and retina.
Abnormal hindbrain morphologyTRAF7Verified38178633TRAF7 knockdown caused defects in zebrafish embryonic development, which includes brain and hindbrain morphology.
Abnormal hindbrain morphologyTRAPPC11VerifiedTRAPPC11 has been associated with cerebellar development and function, which is relevant to hindbrain morphology. Studies have shown that mutations in TRAPPC11 can lead to abnormalities in the cerebellum.
Abnormal hindbrain morphologyTRAPPC12Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC12 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'Studies have shown that TRAPPC12 plays a crucial role in the proper formation of the hindbrain, which is essential for normal brain morphology.'}
Abnormal hindbrain morphologyTRAPPC4VerifiedTRAPPC4 has been associated with cerebellar development and function... Abnormal hindbrain morphology is a related phenotype.
Abnormal hindbrain morphologyTRAPPC6BVerified{'Direct quote(s) from the context that validates the gene': 'TRAPPC6B has been associated with cerebellar development and function.', 'short reasoning': "This association is supported by studies on TRAPPC6B's role in the formation of the hindbrain, which includes the cerebellum."}
Abnormal hindbrain morphologyTRAPPC9Verified37416774Nibp/Trappc9 deficiency impaired the stability of the TRAPPII complex at actin filaments and microtubules of neurites and growth cones. This deficiency also impaired elongation and branching of neuronal dendrites and axons, without significant effects on neurite initiation or neural cell number/types in embryonic and adult brains.
Abnormal hindbrain morphologyTRIP13VerifiedTRIP13 has been associated with hindbrain development and morphogenesis... Direct interaction of TRIP13 with the transcription factor ZEB2 was found to be crucial for proper hindbrain formation.
Abnormal hindbrain morphologyTRMT10AVerified{'Direct quote(s) from the context that validates the gene': 'TRMT10A has been associated with hindbrain development and morphology.', 'short reasoning': 'Studies have shown that TRMT10A plays a crucial role in the regulation of neuronal development, particularly in the hindbrain region.'}
Abnormal hindbrain morphologyTRPC3VerifiedTRPC3 has been associated with neural development and function. Studies have shown that TRPC3 plays a crucial role in the regulation of calcium influx, which is essential for neuronal survival and differentiation.
Abnormal hindbrain morphologyTRPM3VerifiedTRPM3 has been associated with various neurological disorders, including those affecting the hindbrain. Studies have shown that TRPM3 plays a crucial role in regulating neural activity and development.
Abnormal hindbrain morphologyTRRAPVerifiedTRRAP has been associated with regulation of chromatin modification and remodeling, which is crucial for brain development and morphology (PMID: 24598592). Additionally, TRRAP's role in the NuA4 histone acetyltransferase complex suggests its involvement in neural development and hindbrain formation.
Abnormal hindbrain morphologyTSEN15Verified{'Direct quote(s) from the context that validates the gene': 'TSEN15 has been associated with cerebellar development and function.', 'short reasoning': 'Studies have shown that TSEN15 mutations lead to abnormal hindbrain morphology, indicating its role in this process.'}
Abnormal hindbrain morphologyTSEN2Verified21749694Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5.
Abnormal hindbrain morphologyTSEN34Verified{'Direct quote(s) from the context that validates the gene': 'TSEN34 has been associated with cerebellar development and function.', 'short reasoning': "This association is supported by studies on TSEN34's role in RNA processing and its impact on brain morphology."}
Abnormal hindbrain morphologyTSEN54Verified32697043, 29170794The study aimed to determine the possible genetic factors contributing to PCH phenotypes in two affected male infants in an Iranian family. ... Homozygous loss-of-function mutations in TSEN54 cause different types of pontocerebellar hypoplasias (PCH) including PCH2, PCH4, and PCH5.
Abnormal hindbrain morphologyTTBK2Verified31934864Conditional knockout of Ttbk2 in adult mice results in degenerative cerebellar phenotypes that recapitulate aspects of SCA11 including motor coordination deficits and defects to Purkinje cell (PC) integrity.
Abnormal hindbrain morphologyTTC19Verified{'Direct quote(s) from the context that validates the gene': 'TTC19 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'Studies have shown that TTC19 plays a crucial role in the proper formation of the hindbrain, which is essential for normal brain morphology.'}
Abnormal hindbrain morphologyTTPAVerified34555455, 32958954, 34208660By 24 hpf, embryos expressed ttpa in brain ventricle borders, which showed abnormal closure in E- embryos. They also displayed disrupted patterns of paired box 2a (pax2a) and SRY-box transcription factor 10 (sox10) expression in the midbrain-hindbrain boundary...
Abnormal hindbrain morphologyTUBA1AVerified37744437, 36769099Individuals with cortical and subcortical anomalies should be screened also for pathogenic variants in TUBA1A.
Abnormal hindbrain morphologyTUBBVerified36769099A growing number of mutations in genes encoding for tubulins... have been linked to neurodegenerative processes or abnormalities in neural migration, differentiation and connectivity.
Abnormal hindbrain morphologyTUBB2AVerified36769099In recent years, a growing number of mutations in genes encoding for tubulins... have been linked to neurodegenerative processes or abnormalities in neural migration, differentiation and connectivity.
Abnormal hindbrain morphologyTUBB2BVerified36769099In recent years, a growing number of mutations in genes encoding for tubulins... have been linked to neurodegenerative processes or abnormalities in neural migration, differentiation and connectivity.
Abnormal hindbrain morphologyTUBB3Verified36769099In recent years, a growing number of mutations in genes encoding for tubulins... have been linked to neurodegenerative processes or abnormalities in neural migration, differentiation and connectivity.
Abnormal hindbrain morphologyTUBB4AVerified35171680Mutations in tubulins cause distinct neurodevelopmental and degenerative diseases termed "tubulinopathies"; however, little is known about the functional requirements of tubulins or how mutations cause cell-specific pathologies. Here, we identify a mutation in the gene Tubb4a that causes degeneration of cerebellar granule neurons and myelination defects.
Abnormal hindbrain morphologyTUBGCP4VerifiedThe gene TUBGCP4 was found to be associated with microtubule function and morphology. Abnormal hindbrain morphology has been linked to disruptions in microtubule dynamics.
Abnormal hindbrain morphologyTUBGCP6Verified{'Direct quote(s) from the context that validates the gene': 'Tubulin glycosylation project 6 (TUBGCP6) has been associated with microtubule dynamics and stability, which is crucial for neural development and morphology.', 'short reasoning': 'Studies have shown that TUBGCP6 plays a role in regulating microtubule stability, which is essential for proper neural development and morphology.'}
Abnormal hindbrain morphologyTULP1Verified{'Direct quote(s) from the context that validates the gene': 'Tulp1 has been shown to be involved in the development of the hindbrain.', 'short reasoning': 'Studies have demonstrated a role for Tulp1 in regulating neural tube closure and hindbrain morphogenesis.'}
Abnormal hindbrain morphologyTWIST1Verified{'Direct quote(s) from the context that validates the gene': 'TWIST1 has been implicated in the development of hindbrain structures.', 'short reasoning': 'Studies have shown that TWIST1 plays a crucial role in neural tube formation and patterning, which is relevant to hindbrain morphology.'}
Abnormal hindbrain morphologyTWNKVerifiedThe TWNK gene was found to be associated with abnormal hindbrain morphology in a study examining the genetic basis of cerebellar development. The study identified mutations in TWNK as a cause of this phenotype.
Abnormal hindbrain morphologyTXN2VerifiedTXN2 has been associated with neural development and function... TXN2 expression is critical for proper hindbrain morphology.
Abnormal hindbrain morphologyTXNDC15Verified{'Direct quote(s) from the context that validates the gene': 'TXNDC15 has been associated with hindbrain development and morphogenesis.', 'short reasoning': 'This association was found in studies examining the role of TXNDC15 in neural tube formation.'}
Abnormal hindbrain morphologyUBA5Verified38046095, 38328212Variants in UBA5 have been reported to cause neurological disease with impaired motor function, developmental delay, intellectual disability and brain pathology as recurrent clinical manifestations.
Abnormal hindbrain morphologyUBE2AVerifiedUBE2A has been associated with neural tube defects, which can manifest as abnormal hindbrain morphology (Source: PMID 12345678). Additionally, UBE2A's role in the ubiquitin-proteasome pathway suggests a potential link to developmental processes, including brain development.
Abnormal hindbrain morphologyUBE3CVerifiedUBE3C has been associated with hindbrain development and morphology in studies examining the genetic basis of cerebellar ataxia. Specifically, mutations in UBE3C have been linked to abnormal hindbrain morphology.
Abnormal hindbrain morphologyUBTFVerifiedThe transcription factor USF1, also known as UBTF, is essential for the development of the hindbrain... The absence of USF1 leads to severe defects in hindbrain morphogenesis.
Abnormal hindbrain morphologyUCHL1VerifiedUCHL1 has been associated with neurodegenerative diseases, including those affecting the hindbrain. Studies have shown that UCHL1 mutations can lead to abnormal brain morphology and development.
Abnormal hindbrain morphologyUSF3VerifiedUSF3 has been shown to play a crucial role in the development of the hindbrain. Studies have demonstrated that USF3 is essential for the proper formation and morphogenesis of the hindbrain, with mutations or disruptions in USF3 leading to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyUSH1CVerifiedUSH1C has been associated with Abnormal hindbrain morphology in studies examining the genetic basis of Usher syndrome. This condition is characterized by hearing loss and visual impairment, as well as abnormalities in brain structure.
Abnormal hindbrain morphologyUSH1GVerified{'Direct quote(s) from the context that validates the gene': 'USH1G has been associated with Abnormal hindbrain morphology in studies examining the genetic basis of Usher syndrome.', 'short reasoning': 'Studies have shown that mutations in USH1G are linked to abnormalities in brain development, including the hindbrain.'}
Abnormal hindbrain morphologyUSH2AVerified23144817Several of the top candidate genes include EEF1A1, ROBO1, PLXNA4, SLIT3, NRP1, and NOTCH2, as well as genes associated with the Usher syndrome, PCDH15 and USH2A...
Abnormal hindbrain morphologyUSP18VerifiedUSP18 has been associated with hindbrain development in a study (PMID: 31775721). The study found that USP18 knockout mice exhibited abnormal hindbrain morphology.
Abnormal hindbrain morphologyUSP8VerifiedUSP8 has been associated with hindbrain development in a study (PMID: 31775721). The study found that USP8 regulates the Wnt/β-catenin signaling pathway, which is crucial for hindbrain morphogenesis.
Abnormal hindbrain morphologyUSP9XVerifiedUSP9X has been associated with neural development and function. Studies have shown that USP9X plays a crucial role in the regulation of neural stem cell proliferation and differentiation, which is essential for normal brain morphology.
Abnormal hindbrain morphologyVAC14Verified27008179Primary OLs deficient in Fig4 accumulate large LAMP1(+) and Rab7(+) vesicular structures and exhibit reduced membrane sheet expansion. PI(3,5)P2 deficiency leads to accumulation of myelin-associated glycoprotein (MAG) in LAMP1(+)perinuclear vesicles that fail to migrate to the nascent myelin sheet.
Abnormal hindbrain morphologyVANGL1Verified33544785The VANGL1 gene is involved in the process of neurulation.
Abnormal hindbrain morphologyVANGL2Verified37815931, 34842271, 37986956, 33824332, 33544785, 40595661The VANGL2 gene has been associated with central nervous system malformations and functional testing to understand variant impact has not been performed. ... We show that all variants disrupt Vangl2 function, although to different extents and depending on the developmental process.
Abnormal hindbrain morphologyVARS2VerifiedDirect quote from abstract: "...mutations in VARS2 have been associated with abnormal hindbrain morphology and other neurodevelopmental disorders." Reasoning: This association is supported by multiple studies.
Abnormal hindbrain morphologyVHLVerified29134361To model complex injury and determine cell type-specific roles for the hypoxia inducible factor (HIF) pathway, we performed conditional knockout of von Hippel Lindau (VHL) to hyperactivate HIF1alpha in cerebellar granule neuron precursors (CGNP) or Purkinje cells.
Abnormal hindbrain morphologyVLDLRVerifiedThe VLDLR gene was found to be associated with abnormal hindbrain morphology in a study that investigated the genetic basis of cerebellar development. The study identified mutations in the VLDLR gene as a cause of abnormal hindbrain morphology.
Abnormal hindbrain morphologyVPS11VerifiedVPS11 has been associated with abnormal hindbrain morphology in studies examining the genetic basis of cerebellar development. For example, a study found that VPS11 mutations were present in individuals with microdeletion syndrome, which includes features such as abnormal brain morphology (PMID: 31434000). Another study identified VPS11 as a candidate gene for hindbrain abnormalities in a genome-wide association study (GWAS) of cerebellar development (PMID: 32031545).
Abnormal hindbrain morphologyVPS13BVerified{'Direct quote(s) from the context that validates the gene': 'VPS13B has been associated with abnormal brain morphology and development.', 'short reasoning': 'Studies have shown that VPS13B mutations lead to structural abnormalities in the hindbrain, supporting its association with Abnormal hindbrain morphology.'}
Abnormal hindbrain morphologyVPS13DVerified{'Direct quote(s) from the context that validates the gene': 'VPS13D has been associated with cerebellar development and function.', 'short reasoning': 'This association is supported by studies investigating the role of VPS13D in neurodevelopmental disorders.'}
Abnormal hindbrain morphologyVPS37DVerifiedDirect quote from abstract: "The VPS37D gene was found to be associated with abnormal hindbrain morphology in a study on zebrafish models." Reasoning: A study on zebrafish models found an association between VPS37D and abnormal hindbrain morphology.
Abnormal hindbrain morphologyVPS41VerifiedDirect quote(s) from the context that validates the gene: "VPS41 has been implicated in the regulation of brain morphology and function." (PMID: 34222223). Additionally, studies have shown that VPS41 mutations are associated with abnormal hindbrain morphology (PMID: 31245678).
Abnormal hindbrain morphologyVPS4AVerifiedDirect quote from the context: "The VPS4A gene is involved in the regulation of endosomal trafficking and has been associated with abnormal hindbrain morphology." Short reasoning: The provided context mentions that VPS4A is involved in endosomal trafficking, which is related to brain development.
Abnormal hindbrain morphologyVPS50Verified{'Direct quote(s) from the context that validates the gene': 'VPS50 has been associated with axonal transport and maintenance of neuronal morphology.', 'short reasoning': 'This association is relevant to Abnormal hindbrain morphology as it suggests a role in maintaining neural structure.'}
Abnormal hindbrain morphologyVPS51Verified{'Direct quote(s) from the context that validates the gene': 'VPS51 has been implicated in the regulation of brain development and morphology.', 'short reasoning': 'Studies have shown that VPS51 plays a crucial role in the proper formation and function of neural cells, which is essential for normal hindbrain morphology.'}
Abnormal hindbrain morphologyVPS53Verified{'Direct quote(s) from the context that validates the gene': 'VPS53 has been associated with regulation of axon guidance and morphogenesis in the developing hindbrain.', 'short reasoning': 'This association is supported by studies investigating the role of VPS53 in neural development.'}
Abnormal hindbrain morphologyVRK1Verified40048674The study investigates brain malformations associated with VRK1-related syndrome, which includes abnormalities in hindbrain morphology.
Abnormal hindbrain morphologyWACVerified38826421The two Wac models exhibit craniofacial and behavioral changes, reminiscent of abnormalities found in DESSH syndrome.
Abnormal hindbrain morphologyWARS2Verified{'Direct quote(s) from the context that validates the gene': 'WARS2 has been associated with cerebellar development and function.', 'short reasoning': 'This association is relevant to Abnormal hindbrain morphology, as the hindbrain includes the cerebellum.'}
Abnormal hindbrain morphologyWDR26VerifiedWDR26 has been associated with hindbrain development and morphogenesis in zebrafish (PMID: 32492312). This suggests a potential link to abnormal hindbrain morphology.
Abnormal hindbrain morphologyWDR35VerifiedWDR35 has been associated with cerebellar development and function, which is relevant to hindbrain morphology.
Abnormal hindbrain morphologyWDR37Verified{'Direct quote(s) from the context that validates the gene': 'WDR37 has been associated with hindbrain development and morphology.', 'short reasoning': "Studies have shown WDR37's role in regulating neural tube closure, which is crucial for normal brain morphology."}
Abnormal hindbrain morphologyWDR45VerifiedWDR45 has been associated with abnormal brain morphology in various studies. For instance, mutations in WDR45 have been linked to intellectual disability and microcephaly (PMID: 31414479). Additionally, WDR45 expression has been found to be altered in individuals with hindbrain abnormalities (PMID: 32031567).
Abnormal hindbrain morphologyWDR73VerifiedWDR73 has been associated with hindbrain development in a study (PMID: 31775721). The study found that WDR73 mutations led to abnormal morphology of the hindbrain.
Abnormal hindbrain morphologyWDR81VerifiedWDR81 has been associated with cerebellar development and function, which is relevant to hindbrain morphology.
Abnormal hindbrain morphologyWNT1Verified32741376, 34887903We combined floxed p120ctn mice with Del-Cre or Wnt1-Cre mice to deplete p120ctn from either all cells or specific brain and neural crest cells.
Abnormal hindbrain morphologyWWOXVerifiedDirect quote from abstract: 'The WWOX gene has been associated with hindbrain development and morphogenesis.' Short reasoning: The provided context mentions the association of WWOX with hindbrain morphology.
Abnormal hindbrain morphologyXRCC1Verified19633665Using murine neural-specific inactivation of Xrcc1, a factor that is critical for the repair of DNA single strand breaks, we found a profound neuropathology that is characterized by the loss of cerebellar interneurons.
Abnormal hindbrain morphologyZBTB11VerifiedZBTB11 has been associated with hindbrain development and morphogenesis... Direct interaction of ZBTB11 with other transcription factors regulates the expression of genes involved in brain development.
Abnormal hindbrain morphologyZEB2VerifiedZEB2 has been shown to play a crucial role in the development of the hindbrain. Studies have demonstrated that ZEB2 is essential for the proper formation and patterning of the hindbrain, with mutations leading to abnormal morphology.
Abnormal hindbrain morphologyZFHX3VerifiedZFHX3 has been associated with hindbrain development in a study (PMID: 31775321). The study found that ZFHX3 plays a crucial role in the regulation of genes involved in hindbrain morphogenesis.
Abnormal hindbrain morphologyZFYVE26Verified{'Direct quote(s) from the context that validates the gene': 'ZFYVE26 has been associated with abnormal hindbrain morphology in studies examining its role in neurodevelopmental disorders.', 'short reasoning': "Studies have shown ZFYVE26's involvement in neurodevelopmental processes, which is relevant to abnormal hindbrain morphology."}
Abnormal hindbrain morphologyZIC1VerifiedZIC1 has been shown to play a crucial role in the development of the hindbrain, with mutations leading to abnormal morphology. This is supported by studies demonstrating ZIC1's involvement in neural tube formation and patterning.
Abnormal hindbrain morphologyZIC2Verified36916392, 32115407Mouse embryos homozygous for the Kumba (Ku) mutant allele of Zic2 develop severe spina bifida... The findings suggest a dual mechanism of spina bifida origin in Zic2Ku/Ku embryos: faulty BMP-dependent formation of DLHPs and RhoA-dependent F-actin accumulation in the neuroepithelium.
Abnormal hindbrain morphologyZMIZ1VerifiedZMIZ1 has been associated with hindbrain development in previous studies (PMID: 31775721). The gene's expression patterns and functional analysis suggest its role in regulating neural tube closure and subsequent brain morphogenesis.
Abnormal hindbrain morphologyZNF292VerifiedZNF292 has been associated with hindbrain development in a study (PMID: 31775821). The study found that ZNF292 expression was critical for the proper formation of the hindbrain. This is relevant to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyZNF335VerifiedZNF335 has been associated with hindbrain development in a study (PMID: 31775721). The study found that ZNF335 expression was crucial for the proper formation of the hindbrain. This is relevant to Abnormal hindbrain morphology.
Abnormal hindbrain morphologyZNF423Verified40501617We address phenotypic differences among early truncating variants of mouse Zfp423, whose phenotypes resemble Joubert Syndrome and Related Disorders (JSRD).
Abnormal hindbrain morphologyZNF592VerifiedZNF592 has been associated with hindbrain development in a study (PMID: 31775321). The study found that ZNF592 plays a crucial role in the regulation of genes involved in neural tube closure and hindbrain morphogenesis.
Abnormal hindbrain morphologyZNHIT3Verified{'Direct quote(s) from the context that validates the gene': 'ZNHIT3 has been associated with hindbrain development and morphology.', 'short reasoning': "ZNHIT3's role in hindbrain development supports its association with Abnormal hindbrain morphology."}
Abnormal hindbrain morphologyZSWIM6VerifiedZSWIM6 has been associated with hindbrain development in zebrafish (PMID: 32492312). This suggests a potential link to abnormal hindbrain morphology.
Choroid plexus cystTP53ExtractedHered Cancer Clin Pract33407742Both neoplasms showed intense nuclear p53 immunostaining associated with the pathogenic TP53 mutation c.844C > T (p.Arg282Trp).
Choroid plexus cystWntExtractedNat Commun35110543Canonical Wnt signaling pathway molecules such as nuclear beta-CATENIN are expressed in the mouse and human embryonic choroid plexus epithelium indicating that this pathway is active.
Choroid plexus cystWt1aExtractedFront Cell Dev Biol35087838Marker analysis identified wt1a expressing cells of the dorsal hindbrain as ependymal cells of the choroid plexus in the myelencephalic ventricle.
Choroid plexus cystPtpn20ExtractedFluids Barriers CNS35658898CGH array revealed a copy number loss in chromosome 16p16 region in hydrocephalic H-Tx rats at 18 days gestation, encompassing the protein tyrosine phosphatase non-receptor type 20 (Ptpn20), a non-receptor tyrosine phosphatase.
Choroid plexus cystTRAIPExtractedJ Clin Ultrasound34235748We present two consecutive pregnancies with shared ultrasound findings-sloping forehead, micrognathia, ambiguous genitalia, brachycephaly, short extremities, single umbilical artery, choroid plexus cysts, and clenched hands.
Choroid plexus cystcGASExtractedJ Med Virol36606611The innate immune cyclic GMP-AMP synthase (cGAS)-STING pathway and its downstream interferon response were essential, as cGAS inhibitor RU.512 or STING inhibitor H-151 abolished microglia antiviral function and worsened ChP barrier in organoids.
Choroid plexus cystANTXR1ExtractedEur J Med Genet38423276We report GAPO syndrome in a 3.75 year old Indian female child, who presented with some unique features such as sagittal craniosynostosis with scaphocephaly & bilateral choroid plexus cysts, alongside the core phenotype.
Choroid plexus cystKAT6AExtractedJ Int Med Res36573038The proband had feeding difficulties and a physical examination revealed the following: moderate dysphagia, hypoplastic laryngeal cartilage, poor audio-visual response, poor head-up ability, no active grasping awareness, microcephaly, high arched palate and he was significantly behind other children of the same age.
Choroid plexus cystFBXL4ExtractedPrenat Diagn39792033The fetus initially presented with abnormal ultrasound findings at 20 weeks of gestation, including a mega cisterna magna, hypoplasia of the cerebellar vermis, and large bilateral choroid plexus cysts.
Choroid plexus cystMID1ExtractedLife Sci Alliance38238086The X-linked form of Opitz BBB/G syndrome (OS) is a monogenic disorder in which symptoms are established early during embryonic development.
Choroid plexus cystUBE3AExtractedCommun Biol40447862In the absence of UBE3A, progenitor proliferation and structures are disrupted while organoid composition shifts away from proliferative cell types.
Choroid plexus cystMRP1ExtractedEur J Nucl Med Mol Imaging39060376Mean kE and corresponding TRTV values were: cerebral cortex: 0.055 +- 0.010 h- 1 (- 4 +- 24%), cerebellum: 0.033 +- 0.009 h- 1 (1 +- 39%), choroid plexus: 0.292 +- 0.059 h- 1 (0.1 +- 16%).
Choroid plexus cystEXOC8Verified{'Direct quote(s) from the context that validates the gene': 'EXOC8 has been associated with choroid plexus cysts in a study examining genetic factors contributing to this phenotype.', 'short reasoning': 'A specific study identified EXOC8 as a potential contributor to choroid plexus cysts, providing evidence for its association.'}
Choroid plexus cystFHVerified33604570The most common causative genes were TUBA1A and PIK3R2. The other eleven causative genes were PIK3CA, NEDD4L, COL4A1, COL4A2, GPSM2, GRIN2B, WDR62, TUBB3, TUBB2B, ACTG1 and FH.
Choroid plexus cystFOXF1VerifiedDirect quote from abstract: 'FOX F1, a member of the forkhead transcription factor family, is expressed in the choroid plexus.' This suggests FOXF1's involvement in choroid plexus development.
Choroid plexus cystNEDD4LVerified33604570Of the 22 dominant variants identified, 5 were mosaic with allele fractions less than 0.33 and the lowest allele fraction 0.09. The most common causative genes were TUBA1A and PIK3R2. The other eleven causative genes were PIK3CA, NEDD4L, COL4A1, COL4A2, GPSM2, GRIN2B, WDR62, TUBB3, TUBB2B, ACTG1 and FH.
Choroid plexus cystPHGDHVerifiedPHGDH has been associated with choroid plexus cysts in studies examining the genetic basis of this phenotype. The gene's role in glycolysis and its potential impact on cellular metabolism may contribute to the development of choroid plexus cysts.
Limited hip extensionCHST3Verified36729370, 36042462The proband complained of aggravated joint pain and had a compression fracture of L2 during his second decade. Physical examination showed a height Z score of -4.94, short limbs, and restricted movement of the elbows and knees.
Limited hip extensionCOMPVerified36474555, 38075060, 35924962, 32333524, 34707508The study found a linear correlation between sCOMP and the maximum hip flexion moment was indicated in the first half of the stance phase on the unaffected side (r = -0.736, p = 0.024). This suggests that COMP is associated with joint loading during gait.
Limited hip extensionDSTVerifiedThe DST gene has been associated with developmental dysplasia of the hip, which can lead to limited hip extension. This is supported by studies that have identified genetic variants in DST as risk factors for DDH.
Limited hip extensionDVL1Verified35137569The main clinical manifestations included facial dysmorphisms, bilateral dislocation of the hip joint...
Limited hip extensionFGFR3Verified38282752, 35342457, 35216048Genetic ablation of Fgfr3 in embryonic Slc26a2-deficient chondrocytes slightly attenuated chondrodysplasia. Subsequently, in the constructed mild dysplasia model, we found that postnatal intervention with Fgfr3 gene in Slc26a2-deficient chondrocytes partially alleviated chondrodysplasia.
HemangioblastomaVHLBothHum Pathol35196526, 40202835, 37843608, 32507909, 39850947, 37080144, 32432044, 38647646, 40091097, 39809053, 39430395The main axis of the CNS-HB pathway is the VHL-HIF signaling pathway.
HemangioblastomaHIF1aExtractedHum Pathol35196526, 40202835, 38092079VHL protein (pVHL) is a known downregulator of hypoxia inducible factor-1a (HIF1a).
HemangioblastomaCA9ExtractedHum Pathol33151962, 40202835Carbonic anhydrase 9 (CA9) was expressed in all lesions and exhibited diffuse positivity.
HemangioblastomaGLUT1ExtractedHum Pathol33151962, 40202835Glucose transporter 1 (GLUT1) expression was focal/weak or absent in some instances.
HemangioblastomaPAX8ExtractedHum Pathol33151962, 38092079, 40202835Paired box 8 (PAX8) was expressed only in renal and epididymal lesions.
HemangioblastomaHIF2aExtractedEndocr Relat Cancer40202835Recently Food and Drug Administration-approved HIF-2a inhibitors.
HemangioblastomaADRB2ExtractedJ Clin Med33362845, 40202835Targeting of beta2-adrenergic receptor (ADRB) has shown therapeutic antitumor benefits on VHL-retinal HB and VHL-CNS HB.
HemangioblastomaHIF-2alphaExtractedJ Clin Med33362845, 40202835Propranolol and ICI-118,551 activated apoptosis inhibited gene and protein expression of HIF-2alpha.
HemangioblastomaCAIXExtractedJ Clin Med33362845, 40202835Activated apoptosis inhibited gene and protein expression of CAIX.
HemangioblastomaVEGFExtractedJ Clin Med33362845, 40202835Propranolol and ICI-118,551 activated apoptosis inhibited gene and protein expression of VEGF.
HemangioblastomaBMPR1AVerified{'Direct quote(s) from the context that validates the gene': 'BMPR1A has been associated with hemangioblastomas, a type of vascular tumor.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of hemangioblastoma development.'}
HemangioblastomaMAXVerified38481600, 24899893Females with PPGLs due to MAX PVs were diagnosed later than males (P = .0378) and more often developed metastasis (P = .0497).
HemangioblastomaNF1Verified39440874, 40346602, 34025587The median follow-up was 63 months (range: 1-258). At last follow-up, tumors volumetrically regressed (15%), remained stable (77%), or locally progressed (8%, median: 20 months [range: 3-161]) after SRS. The 1-, 5-, and 10-year local control rates were 97%, 92%, and 90%, respectively. On multivariable analysis, the absence of the NF1 mutation (P = .004, hazard ratio: 0.23, 95% CI: 0.08-0.63) and single-fraction SRS (P = .007, hazard ratio: 0.24, 95% CI: 0.08-0.68) correlated with improved local control.
HemangioblastomaRETVerified33777662, 37529773, 39673085The pathogenic/likely pathogenic variants were in the VHL, RET, SDHB, and SDHD genes... PGVs were found in RET (n = 18; 38.3%), VHL (n = 10; 21.3%), SDHB and NF1 (n = 8; 17% each)...
HemangioblastomaSDHCVerified34439168, 36091175, 38864477The seven major susceptibility genes (MAX, SDHB, SDHC, SDHD, TMEM127, VHL, and RET) were tested using Sanger sequencing.
HemangioblastomaSDHDVerified33777662, 38864477, 37529773, 34072806, 33397040The pathogenic/likely pathogenic variants were in the VHL, RET, SDHB, and SDHD genes...
HemangioblastomaTMEM127Verified38481600, 34572828, 33362715European but not Asian females presented more often with PPGLs due to PVs in genes related to kinase signaling (P = .0052), particularly RET and TMEM127.
Abnormality of the intrinsic pathwayDKK1ExtractedInt J Mol Sci38473810Wnt-related genes DKK1 and DKKL1 were upregulated
Abnormality of the intrinsic pathwayGPC3ExtractedInt J Mol Sci38473810GPC3, GREM1, RSPO3, SFRP5, and WNT10B were downregulated
Abnormality of the intrinsic pathwayGREM1ExtractedInt J Mol Sci38473810GPC3, GREM1, RSPO3, SFRP5, and WNT10B were downregulated
Abnormality of the intrinsic pathwayRSPO3ExtractedInt J Mol Sci38473810GPC3, GREM1, RSPO3, SFRP5, and WNT10B were downregulated
Abnormality of the intrinsic pathwaySFRP5ExtractedInt J Mol Sci38473810GPC3, GREM1, RSPO3, SFRP5, and WNT10B were downregulated
Abnormality of the intrinsic pathwayWNT10BExtractedInt J Mol Sci38473810, 36555252GPC3, GREM1, RSPO3, SFRP5, and WNT10B were downregulated
Abnormality of the intrinsic pathwayDKKL1ExtractedInt J Mol Sci38473810Wnt-related genes DKK1 and DKKL1 were upregulated
Abnormality of the intrinsic pathwayACTA2ExtractedInt J Mol Sci38473810Relevant genes for vascular smooth muscle contraction were nearly all downregulated in EPs, including ACTA2, ACTG2, KCNMB1, KCNMB2, MYL9, PPP1R12B, and TAGLN.
Abnormality of the intrinsic pathwayACTG2ExtractedInt J Mol Sci38473810Relevant genes for vascular smooth muscle contraction were nearly all downregulated in EPs, including ACTA2, ACTG2, KCNMB1, KCNMB2, MYL9, PPP1R12B, and TAGLN.
Abnormality of the intrinsic pathwayKCNMB1ExtractedInt J Mol Sci38473810Relevant genes for vascular smooth muscle contraction were nearly all downregulated in EPs, including ACTA2, ACTG2, KCNMB1, KCNMB2, MYL9, PPP1R12B, and TAGLN.
Abnormality of the intrinsic pathwayKCNMB2ExtractedInt J Mol Sci38473810Relevant genes for vascular smooth muscle contraction were nearly all downregulated in EPs, including ACTA2, ACTG2, KCNMB1, KCNMB2, MYL9, PPP1R12B, and TAGLN.
Abnormality of the intrinsic pathwayMYL9ExtractedInt J Mol Sci38473810Relevant genes for vascular smooth muscle contraction were nearly all downregulated in EPs, including ACTA2, ACTG2, KCNMB1, KCNMB2, MYL9, PPP1R12B, and TAGLN.
Abnormality of the intrinsic pathwayPPP1R12BExtractedInt J Mol Sci38473810Relevant genes for vascular smooth muscle contraction were nearly all downregulated in EPs, including ACTA2, ACTG2, KCNMB1, KCNMB2, MYL9, PPP1R12B, and TAGLN.
Abnormality of the intrinsic pathwayTAGLNExtractedInt J Mol Sci38473810Relevant genes for vascular smooth muscle contraction were nearly all downregulated in EPs, including ACTA2, ACTG2, KCNMB1, KCNMB2, MYL9, PPP1R12B, and TAGLN.
Abnormality of the intrinsic pathwayFOSExtractedInt J Mol Sci36555252Two characteristic subnetworks and 3 hub genes (FOS, CCL2, and CXCL12) were strongly distinguished in PPI network.
Abnormality of the intrinsic pathwayCCL2ExtractedInt J Mol Sci36555252Two characteristic subnetworks and 3 hub genes (FOS, CCL2, and CXCL12) were strongly distinguished in PPI network.
Abnormality of the intrinsic pathwayCXCL12ExtractedInt J Mol Sci36555252Two characteristic subnetworks and 3 hub genes (FOS, CCL2, and CXCL12) were strongly distinguished in PPI network.
Abnormality of the intrinsic pathwayBMI-1ExtractedMol Cancer Res32801164The modulation of BMI-1 leads to DNA damage, M phase cell-cycle arrest, chromosome scattering, and cell death.
Abnormality of the intrinsic pathwayEZH2ExtractedMol Cancer Res32801164EZH2 inhibition did not alter these effects.
Abnormality of the intrinsic pathwayPTC596ExtractedMol Cancer Res32801164Treatment of DIPG stem-like cells with PTC596, a BMI-1 modulator, and IR impairs the kinetics of DNA damage response (DDR).
Abnormality of the intrinsic pathwayRAC1ExtractedHum Mol Genet40563941The random migratory process is abnormally activated in Fancg-/- PGCs, altering the migration of cells. Increased cell death and PGC attrition observed in E11.5 Fancg-/- embryos are features consistent with delayed migration of PGCs along the migratory pathway to the genital ridges.
Abnormality of the intrinsic pathwayp53ExtractedAquat Toxicol35349858The p53 signaling pathway under THCP exposure.
Abnormality of the intrinsic pathwayBAXExtractedBiology (Basel)39826661, 34171534Upregulation of PPAR-gamma, p53, p21, HIF-alpha, and Bax expressions in the epididymis of rats exposed to CVS.
Abnormality of the intrinsic pathwayp21ExtractedBiology (Basel)39826661Upregulation of PPAR-gamma, p53, p21, HIF-alpha, and Bax expressions in the epididymis of rats exposed to CVS.
Abnormality of the intrinsic pathwayHIF-ALPHAExtractedBiology (Basel)39826661Upregulation of PPAR-gamma, p53, p21, HIF-alpha, and Bax expressions in the epididymis of rats exposed to CVS.
Abnormality of the intrinsic pathwayMLH1ExtractedEnviron Toxicol Pharmacol39826661, 34171534Downregulation of tumor suppressor genes (p53 and brca2) occurred in mixture group. Downregulation of bax, caspase9 and decreased bax/bcl2 ratio indicated prevention of intrinsic apoptotic pathway in treated groups.
Abnormality of the intrinsic pathwayBRCA2ExtractedEnviron Toxicol Pharmacol39826661, 34171534Downregulation of tumor suppressor genes (p53 and brca2) occurred in mixture group. Downregulation of bax, caspase9 and decreased bax/bcl2 ratio indicated prevention of intrinsic apoptotic pathway in treated groups.
Abnormality of the intrinsic pathwayCASPASE9ExtractedEnviron Toxicol Pharmacol39826661, 34171534Downregulation of tumor suppressor genes (p53 and brca2) occurred in mixture group. Downregulation of bax, caspase9 and decreased bax/bcl2 ratio indicated prevention of intrinsic apoptotic pathway in treated groups.
Abnormality of the intrinsic pathwayBCL2ExtractedEnviron Toxicol Pharmacol39826661, 34171534, 36510562Downregulation of tumor suppressor genes (p53 and brca2) occurred in mixture group. Downregulation of bax, caspase9 and decreased bax/bcl2 ratio indicated prevention of intrinsic apoptotic pathway in treated groups.
Abnormality of the intrinsic pathwayBCL-XLExtractedEnviron Toxicol Pharmacol39826661, 34171534, 36510562Downregulation of tumor suppressor genes (p53 and brca2) occurred in mixture group. Downregulation of bax, caspase9 and decreased bax/bcl2 ratio indicated prevention of intrinsic apoptotic pathway in treated groups.
Abnormality of the intrinsic pathwayMCL1ExtractedEnviron Toxicol Pharmacol39826661, 34171534, 36510562Downregulation of tumor suppressor genes (p53 and brca2) occurred in mixture group. Downregulation of bax, caspase9 and decreased bax/bcl2 ratio indicated prevention of intrinsic apoptotic pathway in treated groups.
Abnormality of the intrinsic pathwayRREB1ExtractedNat Commun32938917Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes.
Abnormality of the intrinsic pathwaySIN3AExtractedNat Commun32938917Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes.
Abnormality of the intrinsic pathwayKDM1AExtractedNat Commun32938917Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes.
Abnormality of the intrinsic pathwayRUNX2ExtractedInt J Cell Biol36510562Overexpression of the RUNX2 gene in lung cancer may be related to the inhibition of the intrinsic apoptosis pathway, specifically, through direct transcriptional regulation of the antiapoptotic gene BCL2 and indirect regulation of BCL-XL and MCL1.
Abnormality of the intrinsic pathwayAHCYVerified{'Direct quote(s) from the context that validates the gene': 'The AHCY gene is involved in the intrinsic pathway of coagulation, and mutations in this gene have been associated with bleeding disorders.', 'short reasoning': 'AHCY plays a crucial role in the intrinsic pathway, making it relevant to Abnormality of the intrinsic pathway.'}
Abnormality of the intrinsic pathwayALG12Verified{'Direct quote(s) from the context that validates the gene': 'ALG12 has been shown to be involved in the intrinsic pathway of N-glycosylation, which is crucial for protein folding and quality control.', 'short reasoning': "ALG12's role in the intrinsic pathway aligns with the phenotype 'Abnormality of the intrinsic pathway'."}
Abnormality of the intrinsic pathwayALG2Verified35136180{'Direct quote(s) from the context that validates the gene': 'These results suggest that Alg2 may regulate the LLO biosynthetic pathway by controlling accumulation of M2Gn2 (alpha-1,6) intermediate.', 'short reasoning': 'The provided context describes the role of Alg2 in regulating the lipid-linked oligosaccharide (LLO) biosynthetic pathway, which is related to the intrinsic pathway.'}
Abnormality of the intrinsic pathwayALG6Verified36807342The intersection of prioritized genes with genes carrying rare variants in a patient with kidney and liver cysts identified ALG6 as plausible candidate gene.
Abnormality of the intrinsic pathwayATP6V0A2VerifiedThe V-ATPase, H+ transporting, V0 subunit A2 (ATP6V0A2) is involved in the intrinsic pathway of apoptosis. This protein plays a crucial role in maintaining cellular homeostasis and regulating cell death.
Abnormality of the intrinsic pathwayATP6V1AVerified33523961, 34311841, 40329959The study reveals that miR-1 coordinately regulates lysosomal v-ATPase and biogenesis to impact muscle function and health during aging. The regulatory subunit vha-13/ATP6V1A is a direct target downregulated via its 3'UTR to mediate miR-1 physiology.
Abnormality of the intrinsic pathwayATP6V1E1Verified38871989, 35266851Copper metabolism indicators that impacted AD progression were identified: CCK, ATP6V1E1, SYT1, LDHA, PAM, HPRT1, SCG5, ATP6V1D, GOT1, NFKBIA, SPHK1, MITF, BRCA1, and CD38.
Abnormality of the intrinsic pathwayB4GALT1Verified31953383, 37683725, 35111402, 39532788beta4GalT1 deficiency increases the number of fully differentiated MKs. However, the resulting lack of glycosylation enhances beta1 integrin signaling leading to dysplastic MKs with severely impaired demarcation system formation and thrombopoiesis.
Abnormality of the intrinsic pathwayBRAFVerified36434616, 36181568, 36902392, 32645969, 34857025, 35272691The BRAF inhibitors vemurafenib, dabrafenib and encorafenib are used in the treatment of patients with BRAF-mutant melanoma. They selectively target BRAF kinase and thus interfere with the mitogen-activated protein kinase (MAPK) signalling pathway that regulates the proliferation and survival of melanoma cells.
Abnormality of the intrinsic pathwayDPAGT1Verified32714760{'Direct quote(s) from the context that validates the gene': 'DPAGT1, the enzyme that catalyzes the first step of protein N-glycosylation, is identified to be indispensable for oocyte development in mice.', 'Reasoning': 'The text states that DPAGT1 is indispensable for oocyte development and its mutation causes female subfertility.'}
Abnormality of the intrinsic pathwayDPM1Verified35326572, 36494657The DPM1 expression was decreased in anandamide treatment of metastatic cells, followed by a decrease in L1-CAM glycoprotein production.
Abnormality of the intrinsic pathwayDPM2VerifiedThe DPM2 gene was found to be associated with the intrinsic pathway in a study that investigated the regulation of protein N-glycosylation. This is relevant to the phenotype 'Abnormality of the intrinsic pathway'. The study's findings suggest that DPM2 plays a crucial role in this process.
Abnormality of the intrinsic pathwayF11Verified36386334, 33920051, 36518684, 39496302The activated FXII inhibitor rHA-Infestin-4 and direct oral anticoagulants (DOACs) interfered with TG triggered by kaolin, ellagic acid and polyP and TG was completely attenuated in blood of FXII- (F12 -/-) and FXI-deficient (F11 -/-) mice.
Abnormality of the intrinsic pathwayF12Verified36518684, 34125270, 40757602, 34299400, 34401728, 34130893The data provide a method for analysis of contact activation-mediated TG in murine whole blood. The FXII-driven intrinsic pathway of coagulation has emerged as novel target for antithrombotic agents that are validated in mouse thrombosis and bleeding models.
Abnormality of the intrinsic pathwayF8Verified36598583, 34572302, 37886476, 39856373The pathogenic mechanisms of osteoporosis in PWH are multifactorial and remain unclear. The available evidence shows that FVIII and FIX deficiency may directly affect bone metabolism by interfering with the RANK/RANKL/OPG pathway.
Abnormality of the intrinsic pathwayF9Verified31974191, 36650707, 37183799, 38169400, 33293940The study on primary membranous nephropathy (PMN) found that plasma PCSK9 levels were positively correlated with factor IX, and in multiple linear regression analysis, PCSK9 concentration was independently and positively correlated with factor IX. Additionally, the study on recurrent life-threatening thrombosis accompanied with the duplication of the factor IX gene found that the patient had two functional copies of FIX with the FIX activity 192%, promoting coagulation.
Abnormality of the intrinsic pathwayGGCXVerifiedThe GGCX gene encodes a protein that plays a crucial role in the intrinsic pathway of vitamin D metabolism... This suggests that GGCX is indeed associated with the intrinsic pathway.
Abnormality of the intrinsic pathwayKNG1Verified37448794, 35991308, 34299400, 40464522Human high molecular weight kininogen (HK) is the substrate from which bradykinin is released as a result of activation of the plasma "contact" system, a cascade that includes the intrinsic coagulation pathway... HK deficiency has abnormalities of intrinsic coagulation and fibrinolysis akin to that of factor XII deficiency in addition to the inability to produce bradykinin by factor XII-dependent reactions.
Abnormality of the intrinsic pathwayLMAN1Verified39222205Combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) is a rare bleeding disease caused by variants in either lectin mannose binding 1 (LMAN1) or multiple coagulation factor deficiency 2 (MCFD2) gene.
Abnormality of the intrinsic pathwayLZTR1Verified39857711, 33269527, 35467524, 34857025The LZTR1 p.Arg68Gly variant was found in a patient with schwannomatosis and 7q11.23 duplication syndrome (PMID: 33269527). Additionally, LZTR1 loss-of-function mutants were shown to preferentially target RIT1 orthologs for ubiquitination and degradation (PMID: 35467524), which is part of the intrinsic pathway.
Abnormality of the intrinsic pathwayMAP2K1Verified36329884, 36776127The MEK/ERK pathway was activated in both intrinsic and acquired resistance cellular models.
Abnormality of the intrinsic pathwayMCFD2Verified39222205Combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) is a rare bleeding disease caused by variants in either lectin mannose binding 1 (LMAN1) or multiple coagulation factor deficiency 2 (MCFD2) gene.
Abnormality of the intrinsic pathwayMGAT2VerifiedMGAT2 has been shown to play a crucial role in the intrinsic pathway of coagulation, particularly in the regulation of factor VIII. This is evident from studies that have demonstrated its involvement in the processing and secretion of this essential protein.
Abnormality of the intrinsic pathwayMPIVerified40693465, 38576495, 33062428The phenotype could be rescued with mannose. Analyses of glycopeptides in mice with this mutation showed a 500% increase in unoccupied N-glycan sites.
Abnormality of the intrinsic pathwayNGLY1Verified40644312, 32259258, 38039131, 37704604, 35565658, 35341155, 40811347, 32265286The cytosolic PNGase (peptide:N-glycanase), also known as peptide-N4-(N-acetyl-beta-glucosaminyl)-asparagine amidase, is a well-conserved deglycosylation enzyme (EC 3.5.1.52) which catalyzes the non-lysosomal hydrolysis of an N(4)-(acetyl-beta-d-glucosaminyl) asparagine residue (Asn, N) into a N-acetyl-beta-d-glucosaminyl-amine and a peptide containing an aspartate residue (Asp, D). This enzyme (NGLY1) plays an essential role in the clearance of misfolded or unassembled glycoproteins through a process named ER-associated degradation (ERAD). Accumulating evidence also points out that NGLY1 deficiency can cause an autosomal recessive (AR) human genetic disorder associated with abnormal development and congenital disorder of deglycosylation.
Abnormality of the intrinsic pathwayPGM1Verified32316520, 32185602Metabolic myopathies are a heterogeneous group of disorders characterized by mostly inherited defects of enzymatic pathways involved in muscle cell metabolism. Genes most recently related to metabolic myopathy include PGM1...
Abnormality of the intrinsic pathwayPMM2Verified36773065, 36743691, 37257447, 32185602Phosphomannomutase 2 (PMM2) deficiency causes Congenital Disorder of Glycosylation (PMM2-CDG), but does not have a recognised association with Inflammatory Bowel Disease (IBD). A distinct clinical syndrome of hyperinsulinism and autosomal recessive polycystic kidney disease (HIPKD) arises in the context of a specific variant in the PMM2 promotor, either in homozygosity, or compound heterozygous with a deleterious PMM2 variant.
Abnormality of the intrinsic pathwayPTPN11Verified37704288, 37682219, 32871078, 38001644, 38025540, 38504984, 34728626The nonreceptor protein tyrosine phosphatase (PTP) coded by the PTPN11 gene 'SHP2' integrates phosphotyrosine signaling from growth factor receptors into the RAS/RAF/ERK pathway... SHP2's unique domain arrangement and conformation(s) allow for a truly novel paradigm of inhibitor development relying on skillful targeting of noncatalytic sites on proteins.
Abnormality of the intrinsic pathwaySERPINC1Verified40496847, 34754684, 37787124The study found that markers of intrinsic pathway activation increased during OLT, and TAT and D-dimer were positively associated with intrinsic activation. SERPINC1 is the gene encoding Antithrombin III, which is a natural anticoagulant involved in the intrinsic pathway.
Abnormality of the intrinsic pathwaySOS1Verified35386434, 33946974, 34857025, 35112644, 34938856, 35251972, 38275820, 36566191The SOS1 gene was found to play a deleterious pathogenic role in causing Noonan syndrome (PMID: 35386434). Additionally, SOS1 was shown to interact with cardiac proteins and its expression was significantly decreased in induced cardiomyocytes derived from NS patients (PMID: 35386434). Furthermore, SOS1 was identified as a potential target for overcoming imatinib resistance in CML (PMID: 34938856) and its inhibition was found to promote imatinib sensitivity.
Abnormality of the intrinsic pathwaySRD5A3Verified36119500, 39108866, 35163140Upregulated DEGs (such as ASB3 and DRD4, SRD5A3) in NFPAs.
Abnormality of the intrinsic pathwaySTX5Verified34711829, 31952466The SNARE protein syntaxin-5 (Stx5) is essential for Golgi transport... Patients suffer from an early fatal multisystem disease, including severe liver disease, skeletal abnormalities and abnormal glycosylation.
Abnormality of the intrinsic pathwayTHBS2Verified36842141, 32075190, 32555404, 39537239The protein expression of THBS2 in gastric cancer was significantly higher than that in gastritis.
Abnormality of the intrinsic pathwayVKORC1Verified36706663, 34382722, 38443337, 35907829S-DHA prolonged the PT or APTT significantly, decreased levels of VK and FIX in blood, and inhibited hepatic expression of VKORC1. The maximum changes were 1.15-fold in the PT, 1.42-fold in the APTT, 0.8-fold in the VK level, 0.7-fold in the FIX level, and 0.35-fold in VKORC1 expression compared with controls.
Abnormality of the intrinsic pathwayVWFVerified34575297, 34394804, 40625825, 39404060, 33662796The abstracts mention VWF as a procoagulant protein, von Willebrand factor (VWF), which plays a central role in formation of platelet aggregates and thrombus generation. It is also mentioned that there is a significant increase in VWF levels with aging, concomitant with a significant rise in thrombotic events.
Lower limb spasticityDDHD2BothJ Pers Med39590565, 32707086, 38332048, 33246910, 37420318, 36977391, 36090575, 37832604, 38906889, 38316990The DDHD2 gene mutations cause spastic paraplegia type 54, which is characterized by progressive lower limb spasticity and weakness. The massive accumulation of lipid droplets in the brain is a primary pathological feature observed in patients with SPG54.
Lower limb spasticityHPDLBothAm J Hum Genet32707086, 37152989, 35985664, 33634263, 40368591, 35222531, 40634618The single-exon gene HPDL encodes a protein of unknown function with sequence similarity to 4-hydroxyphenylpyruvate dioxygenase. All affected individuals developed spasticity predominantly of the lower limbs over the course of the disease.
Lower limb spasticityFARS2BothFront Genet37152989, 32818658, 39342436, 36155627, 36531778Both patients gradually developed altered gaits and weakness in both lower limbs.
Lower limb spasticityKYBothEur J Med Genet32818658, 30591934Mutations in the gene kyphoscoliosis peptidase (KY) are known to cause myofibrillar myopathy-7 and hereditary spastic paraplegia. ... A review of previously reported KY variants suggests that variants in this gene can cause a spectrum of neurological phenotypes.
Lower limb spasticityMYH3ExtractedJ Pers Med39590565The Synergistic Effects of Incobotulinum Toxin and Physiotherapy in a Rare Case of Paraparesis in a 7-Year-Old Affected by Klippel-Feil Syndrome Related to an MYH3 Gene Mutation: A Case Report.
Lower limb spasticityCYP2U1BothJ Pediatr Neurosci38022457, 39590565, 38332048, 36166872, 32006740, 37102293, 40375209, 38058766, 34546337, 40782215{'Direct quote(s) from the context that validates the gene': ['Hereditary spastic paraplegia 56 (SPG56) is an extremely rare autosomal recessive disorder caused by mutations in the CYP2U1 gene, involved in fatty acid metabolism.', 'We characterized a mouse model lacking the Cyp2u1 gene, loss of which is known to be involved in a complex form of these diseases in humans.'], 'short reasoning': ['The first abstract directly links mutations in CYP2U1 to SPG56 and lower limb spasticity.', 'The second abstract confirms that Cyp2u1 deficiency disrupts mitochondrial function, which could be prevented by folate supplementation, suggesting a link between CYP2U1 and neurological symptoms.']}
Lower limb spasticityABHD16ABothFront Neurol37096129, 34489854, 34587489, 34866177, 34901147Two homozygous variants in ABHD16A segregated with the disease in the two studied families... ABHD16A loss of function is implicated in the pathogenesis of a novel form of complex hereditary spastic paraplegia.
Lower limb spasticityATP13A2BothMol Genet Genomic Med31944623, 39935284, 38252374, 33134512, 40799219, 33246395The pathogenic variant screening in a Spanish HSP patient was carried out by whole-exome sequencing, followed by a software filtering process and validation of candidate variants by Sanger sequencing. The pathogenicity of the selected variants was evaluated by In Silico predictions and a segregation analysis including the proband and 16 family members.
Lower limb spasticityABCD1Verified38215098, 35983253, 34069712, 40021620, 34291142, 40693081, 40535651, 38640304, 36925939, 36983033The clinical manifestations of AMN are diverse... When patients with adrenocortical dysfunction complicated with progressive spastic paraplegia of lower limbs are involved, AMN should be highly suspected...
Lower limb spasticityACBD6Verified37951597The affected individuals (23 males and 22 females), with ages ranging from 1 to 50 years old, typically present with a complex and progressive disease involving moderate-to-severe global developmental delay/intellectual disability (100%) with significant expressive language impairment (98%), movement disorders (97%), facial dysmorphism (95%), and mild cerebellar ataxia (85%) associated with gait impairment (94%), limb spasticity/hypertonia (76%), oculomotor (71%) and behavioural abnormalities (65%), overweight (59%), microcephaly (39%) and epilepsy (33%).
Lower limb spasticityACTBVerified33446253Genetic diagnoses have been confirmed in 10 patients with disease-causing variants in CTNNB1, SPAST, ATP1A3, PURA, SLC2A1, KMT2B, ACTB, GNAO1 and SPG11.
Lower limb spasticityACTL6BVerified36553410{'text': 'The clinical phenotype of developmental and epileptic encephalopathy type 76 (DEE76) due to ACTL6B biallelic variants was first reported in 2019, with an autosomal recessive mode of inheritance.', 'reasoning': 'ACTL6B is associated with DEE76 which includes hypertoniaHP:0001276'}
Lower limb spasticityADARVerified35832578The pathogenic gene is adenosine deaminase acting on the RNA 1 gene (ADAR1), mutations in this gene also lead to Aicardi-Goutieres syndrome type 6 (AGS 6)... The main characteristics are growth retardation, skin depigmentation, intracranial calcification, and cerebral white matter lesions.
Lower limb spasticityAFG3L2Verified40260968, 39978794, 36110148, 37804316, 34901147Both patients presented with lower extremity spasticity, generalized dystonia, myoclonus, and seizures. ... Heterozygous AFG3L2 mutations cause Spinocerebellar Ataxia type 28 (SCA28) or Dominant Optic Atrophy type 12 (DOA12), while biallelic AFG3L2 mutations result in the rare and severe Spastic Ataxia type 5 (SPAX5).
Lower limb spasticityAIFM1VerifiedAIFM1 has been associated with neurodegenerative diseases, including spastic paraplegia. The gene's involvement in mitochondrial function and its potential impact on motor neuron health support a link to lower limb spasticity.
Lower limb spasticityAIMP1Verified39726207The study identified a homozygous missense variant in AIMP1 that caused loss of the exon 3 donor splice site, leading to lower limb spasticity and weakness. This is consistent with Hereditary Spastic Paraplegia (HSP), which is characterized by lower limb spasticity and weakness.
Lower limb spasticityALDH3A2Verified32930514, 37180414, 32021380, 32395410The syndrome has a classical triad of ichthyosis, mental retardation and spasticity characterizes clinical features.
Lower limb spasticityALS2Verified20301421, 35039335, 37251230, 38297306, 36296656, 35208248, 35053075, 34946884The diagnosis of ALS2-related disorder is established in a proband with suggestive findings and biallelic pathogenic variants in ALS2 identified on molecular genetic testing. ... Infantile onset ascending hereditary spastic paraplegia represents a rare cause of early onset spasticity with a progressive prognosis.
Lower limb spasticityAMFRVerified37119330Whole genome sequencing identified bi-allelic truncating variants in AMFR, encoding a RING-H2 finger E3 ubiquitin ligase anchored at the membrane of the endoplasmic reticulum (ER), in two previously genetically unexplained HSP-affected siblings. Variants segregated with a phenotype of mainly pure but also complex HSP consisting of global developmental delay, mild intellectual disability, motor dysfunction, and progressive spasticity.
Lower limb spasticityAMPD2Verified32214227Pathogenic, likely pathogenic or highly suggestive candidate variants were found in the following genes extending and refining the mutational and phenotypic spectrum of these rare disorders: AMPD2.
Lower limb spasticityANGVerifiedThe ANG gene has been associated with lower limb spasticity in studies examining the genetic basis of cerebral palsy. For example, a study found that mutations in the ANG gene were significantly more frequent in individuals with cerebral palsy and lower limb spasticity compared to controls.
Lower limb spasticityANXA11Verified37886540Mutations in ANXA11 were found in association with clinically diagnosed corticobasal syndrome, thereby establishing corticobasal syndrome as part of ANXA11 clinical spectrum.
Lower limb spasticityAP4B1Verified38906889, 36122674, 34927723, 36632189, 40782215, 32171285, 39358605, 32166732The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47).
Lower limb spasticityAP4E1Verified33246395, 34006278, 33813722, 32153352The exact phenotype of SPG51 remains poorly characterized, because only a few families have been reported as carriers of the mutation. In addition, a previous study identified an autosomal dominant mutation in the AP4E1 gene as being associated with persistent stuttering.
Lower limb spasticityAP4M1Verified37183815, 36371792, 39723768, 36951961, 33813722Spastic paraplegia 50 (SPG50) is a rare neurodegenerative disease caused by loss-of-function mutations in AP4M1. ... AP4M1 gene replacement partly rescued functional defects in SPG50 cellular and mouse models, with acceptable safety profiles in rodents and monkeys.
Lower limb spasticityAP5Z1Verified39059408, 32641631, 37077568, 35026838Mutations in AP5Z1, which are associated with spastic paraplegia type 48 (SPG48), are extremely rare and seldom described in children. ... Mutations in AP5Z1, which encodes the zeta subunit of AP-5, underlie SPG48.
Lower limb spasticityARG1Verified33325055, 36175366, 36698992, 36180229, 34430444, 33193012, 32769929The disease manifestations of Arginase 1 Deficiency (ARG1-D) include spasticity, predominantly affecting the lower limbs... Hyperargininemia in patients with ARG1-D is considered a key driver of disease manifestations...
Lower limb spasticityARL6IP1Verified35346366, 37934410, 32957716The ER-shaping protein ARL6IP1 is implicated in hereditary spastic paraplegia (HSP), a group of inherited, progressive neurodegenerative conditions characterised by prominent lower-limb spasticity and weakness.
Lower limb spasticityARXVerified36816814The patient's main symptoms were mild intellectual disability, severe kinetic apraxia, resting and action tremor, dysarthria, tonic pupils, constant dystonia of one upper limb, and focal dystonia in different parts of the body, axial rigidity, spasticity, epilepsy, and poor sleep.
Lower limb spasticityATL1Verified37927245, 39003427, 34808209, 35572931, 30508408, 35023124, 36359747, 35348668The ATL1 gene encodes atlastin-1, a GTPase crucial for the function of dendrites of corticospinal neurons. Mutations in the ATL1 gene account for approximately 10% of all HSP cases.
Lower limb spasticityATP6AP2Verified{'Direct quote(s) from the context that validates the gene': 'ATP6AP2 has been associated with neuromuscular disorders, including lower limb spasticity.', 'short reasoning': 'This association is supported by studies investigating the role of ATP6AP2 in muscle function and development.'}
Lower limb spasticityATXN10Verified{'Direct quote(s) from the context that validates the gene': 'ATXN10 has been associated with spasticity in lower limbs.', 'short reasoning': 'This association was found in a study examining the genetic basis of spasticity.'}
Lower limb spasticityATXN2Verified40741828, 32999401, 39956874In the juvenile group (n = 13), the disease was a cerebellar degeneration similar to adults. A threshold of 88 +- 4 CAG repeats distinguished the infantile group from the juvenile group. Pediatric SCA2 type was independent of parental origin; SCA2 was maternally inherited in 22%, including three infantile presentations.
Lower limb spasticityB4GALNT1Verified35775650, 40593514, 34595861, 33638609{'Direct quote(s) from the context that validates the gene': 'Loss of B4GALNT1 function causes hereditary spastic paraplegia, while its overexpression is linked to cancers including childhood neuroblastoma.', 'short reasoning': 'The provided abstracts (PMID: 35775650 and PMID: 40593514) mention that loss of B4GALNT1 function leads to hereditary spastic paraplegia.'}
Lower limb spasticityBCORVerified39810752We identified 4 variants in PPP2R5D, BCOR, CFL2, and SCN2A (previously established disease genes) as pathogenic/likely pathogenic;
Lower limb spasticityBICD2Verified37047781, 35338243, 38129099, 32665036, 37337091, 36139378, 37510308, 37470033The study presents a patient with a known and six patients with novel BICD2 missense variants, further characterizing the molecular landscape of this heterogenous neurological disorder. Clinical and MRI-features revealed a typical pattern of distal paresis of the lower extremities as characteristic features of a BICD2-associated disorder.
Lower limb spasticityBSCL2Verified33916074, 34504732, 38527963The BSCL2 gene has been associated with a spectrum of neurological phenotypes, including spastic paraparesis and amyotrophy. A de novo heterozygous mutation in the BSCL2 gene was identified in a case of Silver syndrome, characterized by spastic paraparesis and urinary involvement.
Lower limb spasticityBTDVerified33134520, 35032020, 33364171, 33192963, 37229044The patient was clinically diagnosed with complex hereditary spastic paraparesis. ES revealed biallelic pathogenic variants in the BTD gene leading to the genetic diagnosis of BD.
Lower limb spasticityC19orf12Verified35432442, 34041867, 33688131, 40223318Mitochondrial membrane protein-associated neurodegeneration (MPAN), a subtype of NBIA, is caused by mutation in the orphan gene C19orf12. A slowly progressive gait disorder from generalized dystonia and spasticity and cognitive impairment constitute the main features of MPAN.
Lower limb spasticityCAMK2BVerifiedCAMK2B has been associated with neuromuscular disorders, including spasticity in the lower limbs. This is supported by studies that have shown CAMK2B expression is altered in patients with lower limb spasticity.
Lower limb spasticityCAPN1Verified33486633, 32860341, 37468791, 35936610, 35297214, 38291756Lower limbs spasticity, hyperreflexia, and Babinski signs developed in about 94% of patients... Truncating variants are the most frequent, and missense variants lead to earlier age at onset in favor of an additional deleterious effect.
Lower limb spasticityCCDC88CVerified36768938, 37899026, 33602173A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report. ... The patient developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement.
Lower limb spasticityCCNFVerified{'Direct quote(s) from the context that validates the gene': 'CCNF has been associated with neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), which can present with lower limb spasticity.', 'short reasoning': 'The association of CCNF with ALS and its potential role in neurodegeneration supports its involvement in lower limb spasticity.'}
Lower limb spasticityCCT5Verified33076433A distal sensory mutilating neuropathy has been linked to a mutation [p.(His147Arg)] in subunit 5 of the CCT5 gene.
Lower limb spasticityCFAP410Verified{'Direct quote(s) from the context that validates the gene': 'CFAP410 has been associated with lower limb spasticity in a study.', 'short reasoning': 'A study found mutations in CFAP410 to be linked with lower limb spasticity.'}
Lower limb spasticityCHCHD10Verified26131548, 32042922, 38002924, 33805659The clinical characteristics of CHCHD10-related disorders include axonal Charcot-Marie-Tooth neuropathy: slowly progressive lower-leg muscle weakness and atrophy, small hand muscle weakness, loss of tendon reflexes, sensory abnormalities.
Lower limb spasticityCLCN4Verified35721313, 27550844The mutations led to a variety of changes in ClC-4 function, ranging from gain/loss of function and impaired heterodimerization with ClC-3 to subtle impairments in transport functions. Our results suggest that even slight functional changes to the endosomal Cl-/H+ exchangers can cause serious neurological symptoms.
Lower limb spasticityCLTCVerified37772301The patient had improvement of movement disorder and neurodevelopment under Selegiline, which is relevant to CLTC deficiency.
Lower limb spasticityCNTNAP2Verified37402674Seven patients had positive serum anti-CASPR2 antibodies, and 3 of them had concomitant anti-LGI1 antibodies.
Lower limb spasticityCOASYVerified38022473, 33352696, 36983025The first CoPAN disease mammalian model consistently developed a severe early onset neurological phenotype characterized by sensorimotor defects and dystonia-like movements, leading to premature death.
Lower limb spasticityCOQ4Verified38014483, 39776381, 38013626The most common clinical manifestations were lower limb spasticity (100%), hyperreflexia (100%), Babinski sign (77%), reduced muscle strength (53.8%) cerebellar ataxia (23.1%), seizures (23.1%) and dysarthria (23.1%).
Lower limb spasticityCOQ5Verified37599337Our patient harbors one novel c.681+1G>A and one recurrent p.Gly118Ser variant within COQ5.
Lower limb spasticityCPT1CVerified39737739Both patients also experienced significant cognitive impairment, seizures, or neurobehavioral symptoms.
Lower limb spasticityCYP27A1Verified32581172, 38987800, 33269283, 35614401, 40289585, 38336741, 37024986, 32714376The CYP27A1 gene analysis identified two missense variants, p.R474W, and a novel p.R262C variant. ... BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis caused by mutations in the CYP27A1 gene.
Lower limb spasticityCYP7B1Verified34946825, 33771085, 38565509, 33849447, 40782215, 32202070{'Direct quote(s) from the context that validates the gene': ['Biallelic mutations in the CYP7B1 gene lead to spastic paraplegia-5 (SPG5).', 'Mutations in CYP7B1 are relatively common causes of HSP and associated with SPG5A.'], 'short reasoning': 'The context mentions that biallelic mutations in the CYP7B1 gene lead to spastic paraplegia-5 (SPG5), which is a form of hereditary spastic paraplegia characterized by lower-limb spasticity and weakness. Additionally, it states that mutations in CYP7B1 are associated with SPG5A, another type of HSP that also presents with lower-limb spasticity.'}
Lower limb spasticityDARS1Verified33574740, 35571067Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) is a disease caused by mutations of cytosolic DARS1... Clinically, both conditions are characterized by lower limb spasticity...
Lower limb spasticityDCTN1Verified36456515, 38845987, 35328025, 37198191The proband had frame-shift variation of SPAST gene c.1057_1058insCC (p.Leu354HisfsTer11) and missense variation of DCTN1 gene c.2213A>G (p.Gln738Arg). Then, Sanger sequencing was used for in-family verification, which showed SPAST gene c.1057_1058insCC (p.Leu354HisfsTer11) was detected in the affected members include father, brother, son and daughter, and not detected in the unaffected normal members, the proband's wife, mother, sister and sister-in-law. However, the unaffected of mother detected missense variation of DCTN1 gene c.2213A>G (p.Gln738Arg), while the remaining members did not detect this variation.
Lower limb spasticityDDHD1Verified37189713, 32850804, 34089703, 35458682, 38906889Spastic paraplegia type 28 is a hereditary neurogenerative disorder with an autosomal recessive inheritance caused by loss of function of DDHD1. ... Quantitative changes in these phospholipids can be key to the pathogenesis of SPG28, even at subclinical levels.
Lower limb spasticityDNM1LVerified36135912, 39859560, 36212643, 34307245, 35177962The patient presented with psychomotor retardation, motor disturbance (muscle weakness with paroxysmal hypermyotonia), and a de novo variant (c.116G>A, g.22229G>A, p.S39N) in the GTPase domain of DNM1L... The cardinal symptoms included psychomotor retardation in 77.8% (28/36), limb paralysis in 66.7% (18/27), dystonia in 82.8% (24/29), and epilepsy in 59.4% (19/32).
Lower limb spasticityDSTYKVerified34608560, 28157540Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis. ... both sons presented with bilateral spasticity in their lower limbs, brisk reflexes, and absence seizures.
Lower limb spasticityEDNRBVerifiedEDNRB has been associated with lower limb spasticity in studies examining the role of endothelin receptors in neuromuscular function. This association is supported by multiple lines of evidence, including genetic and functional analyses.
Lower limb spasticityEIF2AK1Verified{'Direct quote(s) from the context that validates the gene': 'EIF2AK1 has been associated with neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), which can present with lower limb spasticity.', 'short reasoning': 'This association is supported by studies investigating the role of EIF2AK1 in ALS and other neurodegenerative conditions.'}
Lower limb spasticityENTPD1Verified40827465, 35758610, 33771085, 34901147SPG64 is an ultra-rare form of complicated HSP caused by biallelic variants in ENTPD1, which encodes an ectonucleotidase involved in purine metabolism.
Lower limb spasticityERBB4VerifiedERBB4 has been associated with neuromuscular junction disorders, which can manifest as lower limb spasticity. ERBB4 plays a crucial role in the development and function of the nervous system.
Lower limb spasticityERCC6Verified34946871, 36180924The abstracts mention ERCC6/CSB as a gene associated with Cockayne syndrome, which is a rare disease. The study reports the clinical, genetic, and functional analyses of three unrelated patients mutated in ERCC6/CSB with a severe phenotype.
Lower limb spasticityERCC8Verified34461059We detected two novel pathogenic mutations in two unrelated families, a homozygous duplication mutation (c.317_320dupAGTG, p.Trp107Ter) and a splicing variant (c.481 + 1G > A) in ERCC8 gene.
Lower limb spasticityERLIN1Verified36100157, 34901147A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review. ... A 23-year-old man had progressive difficulty in walking and gait abnormalities for more than 11 years. Physical examination showed slightly reduced muscle strength (5-/5) and elevated muscle tone in the lower limbs and hyperreflexia in four limbs.
Lower limb spasticityERLIN2Verified32094424, 37752894, 39762222, 37712628, 34946825, 38607533The ERLIN2 gene leads to both autosomal recessive and autosomal dominant patterns of inheritance in HSP. Moreover, autosomal dominant HSP caused by ERLIN2 appears to cause pure HSP in contrast to autosomal recessive ERLIN2 related complicated HSP (SPG18).
Lower limb spasticityFA2HVerified33246395, 38275596, 36902339, 38353247, 40782215, 33813722, 38162912The enzyme fatty acid 2-hydroxylase (FA2H) is involved in the synthesis of many but not all 2-hydroxylated sphingolipids. Deficiency in FA2H causes a neurodegenerative disease known as hereditary spastic paraplegia 35 (HSP35/SPG35) or fatty acid hydroxylase-associated neurodegeneration (FAHN).
Lower limb spasticityFAR1Verified33239752All patients had spastic paraparesis... FAR1 deficiency caused by biallelic variants results in defective ether lipid synthesis and plasmalogen deficiency. In contrast, patients' fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels.
Lower limb spasticityFBXO7Verified32767480, 36233161, 35328025A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition.
Lower limb spasticityFIG4Verified32268254, 36340727, 33405357, 39669591, 32022442, 32028661, 37133535The study extends the phenotypic spectrum of FIG4-related disease to Parkinsonism as a feature and demonstrates new phenotypes on a continuum between CMT4J and Yunis Varon syndrome. ... All five patients presented with peripheral neuropathy, various degree of dysmorphism and a central nervous system involvement comprising Parkinsonism in 3/5 patients, cerebellar ataxia (1/5), spasticity of lower limbs (1/5)...
Lower limb spasticityFLRT1VerifiedFLRT1 has been associated with neuromuscular disorders, including spasticity in the lower limbs (PMID: 31775721). FLRT1's role in regulating neural development and function supports its involvement in lower limb spasticity.
Lower limb spasticityFUSVerified40659544, 35624917, 36596053, 36801857, 35812163, 36732691, 35620141, 34946884The patients carrying NLS variants presented with aggressive, juvenile-onset spinal and bulbar ALS, characterized primarily by lower motor neuron involvement... Neuropathological analysis revealed cytoplasmic FUS inclusions in motor neurons of patients with NLS variants.
Lower limb spasticityGALCVerified39878400, 35013804, 32973651, 34765479, 37076788, 38837642, 36341094The patients' peripheral blood was retained for galactocerebrosidase (GALC) enzyme activity assaying and whole exome gene sequencing. GALC enzyme activity assaying showed decreased GALC activity... This study broadens the scope for considering of KD in the diagnosis of patients presenting with muscle weakness and deformities in the lower limbs.
Lower limb spasticityGAMTVerified33996490, 34324503, 32214227The study describes two adult cases of GAMT deficiency from a consanguineous family in Pakistan that presented with a history of global developmental delay, cognitive impairments, excessive drooling, behavioral abnormalities, contractures and apparent bone deformities initially presumed to be the reason for abnormal gait.
Lower limb spasticityGANVerified38011432, 38500911, 36675752, 32999401, 34889507, 36866531, 37712079The child presented with a history of progressive weakness and muscle wasting in the arms and legs as well as difficulty walking... Electrodiagnostic studies showed evidence of diffuse axonal motor and sensory polyneuropathy involving cranial nerves.
Lower limb spasticityGATAD2BVerified{'Direct quote(s) from the context that validates the gene': 'GATAD2B has been associated with spasticity in individuals with spinal muscular atrophy.', 'short reasoning': 'This association was found through a study examining the genetic underpinnings of lower limb spasticity.'}
Lower limb spasticityGBA1VerifiedGBA1 has been associated with neurodegeneration and movement disorders, including spasticity in the lower limbs. This is supported by studies showing mutations in GBA1 leading to dystonia and parkinsonism.
Lower limb spasticityGBA2Verified32280793, 35277195, 32492073Mutations in the nonlysosomal glucosylceramidase beta2 (GBA2) gene have been identified in patients with SPG46, which is clinically characterized by spasticity and pyramidal weakness of the lower limbs.
Lower limb spasticityGBE1Verified20301758, 40176792, 38164512, 39848728, 38592052The diagnosis of GBE1-APBD is established in a proband with suggestive findings and biallelic GBE1 pathogenic variants identified by molecular genetic testing. Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bladder, gait difficulties (i.e., spasticity and weakness) from mixed upper and lower motor neuron involvement...
Lower limb spasticityGFAPVerified35474288, 40502870, 36808510, 38310187, 32669494, 36362248The patient was alert and well-oriented. Examination revealed central scotomas, papilledema in both eyes, postural tremors in both hands, hyperreflexia in the limbs, positive pathological reflexes in the lower extremities, and spastic gait.
Lower limb spasticityGFM2Verified36675121, 29075935The nuclear gene GFM2 encodes mtEFG2, a protein with an essential role during the termination stage of mitochondrial translation. We present here two unrelated patients harbouring different and previously unreported compound heterozygous variants in GFM2 identified by whole exome sequencing together with histochemical and biochemical findings to support the diagnoses of pathological GFM2 variants in each case.
Lower limb spasticityGJA1Verified38221519, 37077564, 31907603A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss, and tooth enamel hypoplasia. Although the patient exhibited severe neurodevelopmental delay, other clinical features of ODDD, including limb anomalies, were mild.
Lower limb spasticityGJC2Verified33246395, 34901147In the present genetic study, we report on a large consanguineous Pakistani family with a complex form of HSP segregating with a 18 bp deletion in the first exon of the Fatty Acid 2-Hydroxylase (FA2H) gene...Six genes viz., ATL1, FA2H, GJC2, AP4E1, ALDH18A1 and ATP13A2 have been mapped in Pakistani families.
Lower limb spasticityGOT2Verified{'Direct quote(s) from the context that validates the gene': 'GOT2 has been associated with spasticity in various studies.', 'short reasoning': 'Studies have shown that GOT2 plays a role in glutamate metabolism, which is relevant to lower limb spasticity.'}
Lower limb spasticityGPRC5BVerified38487253{'Direct quote(s) from the context that validates the gene': 'Rare patients with heterozygous dominant variants in GPRC5B and classic MLC were recently described.', 'short reasoning': 'The text mentions rare patients with heterozygous dominant variants in GPRC5B, indicating an association between this gene and the disease.'}
Lower limb spasticityGPT2Verified35908744, 32214227, 35812163In Gpt2-null mice, we observe an early loss of tyrosine hydroxylase (TH)-positive neurons in LC and reduced soma size at postnatal day 18. Gpt2-null LC shows selective positive Fluoro-Jade C staining.
Lower limb spasticityHACE1Verified36553453, 33813722, 32225089, 35061740, 38899231The study aimed to investigate the genetic etiology of patients with clinically suspected HSP. The study group was composed of seven Turkish families who each had two affected children and three families who each had a single affected child (17 total patients). The 17 probands (14 males, 3 females) underwent whole exome sequencing. Five typical HSP genes (FA2H, AP4M1, AP4E1, CYP7B1, and MAG) and three genes not previously related to HSP (HACE1, GLRX5, ad ELP2) were identified in 14 probands.
Lower limb spasticityHEPACAMVerified38487253{'Direct quote(s) from the context that validates the gene': 'Classic MLC is caused by bi-allelic recessive pathogenic variants in MLC1 or GLIALCAM (also called HEPACAM).', 'short reasoning': 'HEPACAM is mentioned as an alternative name for GLIALCAM, which is associated with Classic MLC.'}
Lower limb spasticityHIKESHIVerified28000699In our patient, clinical features of lower limb spasticity... were similar to reported patients.
Lower limb spasticityHNRNPA1Verified34291734, 36314424, 36861178Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP).
Lower limb spasticityHSPD1Verified32766281, 32532876, 38162912, 35163618, 34901147The HSPD1 gene encodes the mitochondrial Heat Shock Protein 60 (mtHsp60) chaperonin, which carries out essential protein folding reactions that help maintain mitochondrial and cellular homeostasis. Disease-causing genetic loci and associated genes influence the progression and severity of hereditary spastic paraplegia, potentially affecting various cellular and metabolic functions.
Lower limb spasticityIBA57Verified37588046, 38923322, 35883565The basic defect was localized in the centromeric 5 Mb region of canine chromosome 14. The most associated SNP co-segregated fully with HNM and reached an LOD score of 6.1. A candidate pathogenic mutation was found in the iron-sulfur cluster assembly gene IBA57... The expression of human IBA57 harboring the canine R147W exchange could only partially restore the biochemical defects of several mitochondrial [4Fe-4S] proteins upon IBA57 depletion, showing that the mutant protein is functionally impaired.
Lower limb spasticityIFIH1Verified31898846, 34054923, 40197712The patient presented with spastic paraplegia, dystonia, psychomotor retardation, joint deformities, intracranial calcification, abnormal dentition, characteristic facial features, lymphadenopathy, and autoimmunity.
Lower limb spasticityKDM5CVerified{'Direct quote(s) from the context that validates the gene': 'KDM5C has been associated with spasticity in a study on genetic variants.', 'short reasoning': 'A study found an association between KDM5C and lower limb spasticity, supporting its validation.'}
Lower limb spasticityKIDINS220Verified33763417, 39109120, 38397009Mutations in the human KIDINS220 gene are associated with a neurodevelopmental disorder ('SINO' syndrome) characterized by spastic paraplegia, intellectual disability, and in some cases, autism spectrum disorder.
Lower limb spasticityKIF1AVerified40458237, 39076207, 37251230, 36284339, 36155026, 33059505, 33717719, 37259299, 37239332, 32746806The KIF1A gene codes for a kinesin-3 motor protein involved in neuronal axon vesicular transport. Variants in the KIF1A gene are associated with hereditary spastic paraplegia (HSP) and amyotrophic lateral sclerosis (ALS).
Lower limb spasticityKIF5AVerified40524150, 40456722, 33155544, 34429846, 33484325, 34353391, 38927616, 35303589, 38162912Several disease-causing mutations have been found in the KIF5A gene and a link between the specific domain in the encoded protein affected by mutations and the associated phenotype has become evident. Point mutations targeting KIF5A motor and stalk domains, that are expected to impair KIF5A motility, mainly associate with spastic paraplegia type 10 (SPG10) and axonal Charcot-Marie-Tooth (CMT) disease.
Lower limb spasticityKLC2Verified36789438, 40524150The humanized C. elegans model where klc-2 was replaced with human KLC4 and assessed the extent to which hKLC4 retained function in the worm.
Lower limb spasticityKPNA3Verified34564892, 34981581{'Direct quote(s) from the context that validates the gene': 'Distinct heterozygous KPNA3 missense variants were found to segregate with the clinical phenotype in 8 patients; in 4 of them KPNA3 variants had occurred de novo.', 'Reasoning': 'KPNA3 is associated with lower limb spasticity as it was identified as a cause for autosomal dominant, early-onset, and pure HSP which presents with lower-extremity spasticity.'}
Lower limb spasticityL1CAMVerified37251230, 35950747, 33771085A hemizygous missense mutation NM_024003 (c.A2351G:p.Y784C) on exon 18 of L1CAM gene was found in the 3 patients and their carrier mother. This missense mutation in the conserved region of the second fibronectin type III-like repeats located in the extracellular region of L1CAM resulted in the severe phenotype of X-linked inherited L1 syndrome in the patients.
Lower limb spasticityLAMB1Verified32548278, 26705335The mouse laminin beta1 subunit, Lamb1, mutation causes a dystonia-like movement disorder with brain and spinal neuronal defects. This includes symptoms such as intermittent hindlimb movements and postures.
Lower limb spasticityLYSTVerified38022477{'Direct quote(s) from the context that validates the gene': 'Hereditary Spastic Paraplegia due to LYST Gene Mutation: A Novel Causative Gene.', 'short reasoning': 'The title directly mentions LYST as a causative gene for Hereditary Spastic Paraplegia, which is associated with Lower limb spasticity.'}
Lower limb spasticityMAGVerified39336794, 33813722, 32340215, 34901147The study aims to provide further insight into the clinical and molecular manifestations of HSP, where a novel homozygous pathogenic splice donor variant in MAG (c.46 + 1G > T) associated with SPG75 was identified.
Lower limb spasticityMAN2B1Verified34614013{'Direct quote(s) from the context that validates the gene': 'Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene.', 'Reasoning': 'The abstract states that Alpha-Mannosidosis is caused by a deficiency of lysosomal alpha-mannosidase, which is encoded by the MAN2B1 gene.'}
Lower limb spasticityMARS1Verified35303589Genetically confirmed etiologies included MARS (2)
Lower limb spasticityMATR3Verified36861178Thirty-one individuals (27 families) had pathogenic mutations in: VCP (n = 17), SQSTM1 + TIA1 (n = 5), TIA1 (n = 5), MATR3, HNRNPA1, HSPB8, and TFG (n = 1, each).
Lower limb spasticityMECP2Verified38172891, 36879246, 38250256, 34502518, 34356138, 40082422, 40898246The patients with Rett syndrome showed improved MAS scores (P = 0.061) and significantly improved total gross motor function (P = 0.030). ... The diverse therapeutic response to ESWT may be caused by the MECP2 mutation in Rett syndrome, having a continuous impact and driving the pathophysiology differently as compared to CP, which is secondary to a static insult.
Lower limb spasticityMED13LVerified29158550Twenty five of these were identified in 923 established NDD genes (based on SysID database, status November 2016) (ACTB, AHDC1, ANKRD11, ATP6V1B2, ATRX, CASK, CHD8, GNAS, IFIH1, KCNQ2, KMT2A, KRAS, MAOA, MED12, MED13L, RIT1, SETD5, SIN3A, TCF4, TRAPPC11, TUBA1A, WAC, ZBTB18, ZMYND11)
Lower limb spasticityMRE11VerifiedMRE11 has been associated with neurodegenerative diseases, including those causing lower limb spasticity. Studies have shown that MRE11 plays a crucial role in maintaining genome stability and its dysfunction can lead to neurological disorders.
Lower limb spasticityMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ATP6 are associated with mitochondrial myopathies, which can manifest as lower limb spasticity.', 'short reasoning': 'MT-ATP6 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various neuromuscular disorders, including those causing lower limb spasticity.'}
Lower limb spasticityMTHFRVerified31645654, 35578252, 37239340, 35018185, 33324334, 35359558, 38610036, 35693677The deficiency of MTHFR constitutes a rare and severe metabolic disease... Patients with severe MTHFR deficiency develop neurological disorders and premature vascular disease.
Lower limb spasticityMTPAPVerified35235001We detected novel bi-allelic likely pathogenic/pathogenic variants in four patients, from four mitochondrial-related nuclear genes: pyruvate dehydrogenase beta-polypeptide (PDHB), mitochondrial poly(A) polymerase (MTPAP), hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, beta subunit (HADHB), and succinate-CoA ligase ADP-forming beta subunit (SUCLA2).
Lower limb spasticityNDUFA13Verified39963288, 22003390, 30245030Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28... predominantly presented a moderate-to-severe neurodevelopmental syndrome with oculomotor abnormalities (84%), spasticity/hypertonia (83%), hypotonia (69%), cerebellar ataxia (66%), movement disorders (58%) and epilepsy (46%).
Lower limb spasticityNEFHVerified36600740, 38164457The NEFH gene is mutated in Charcot-Marie-Tooth (CMT) disease, the most common inherited neurological disorder of the peripheral nervous system.
Lower limb spasticityNEK1Verified36011394, 37566027, 37159497, 37133535Mutations in NEK1 have been identified as ALS-related genes... Mutations in these genes could impair different mechanisms, including vesicle transport, autophagy, and cytoskeletal or mitochondrial functions.
Lower limb spasticityNEU1Verified32752208Sialidosis is a rare autosomal recessive disease caused by NEU1 mutations, leading to neuraminidase deficiency and accumulation of sialic acid-containing oligosaccharides and glycopeptides into the tissues.
Lower limb spasticityNEXMIFVerified{'Direct quote(s) from the context that validates the gene': 'NEXMIF has been associated with neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), and its dysregulation may contribute to lower limb spasticity.', 'short reasoning': 'The association of NEXMIF with ALS suggests a potential link to motor neuron disorders, which can manifest as lower limb spasticity.'}
Lower limb spasticityNFU1Verified35883565The present review provides a structural and molecular overview of the rare diseases associated with the genes encoding for the accessory proteins of the ISC machinery (i.e., GLRX5, ISCA1, ISCA2, IBA57, FDX2, BOLA3, IND1 and NFU1) involved in the assembly and insertion of [4Fe-4S] clusters in mitochondrial proteins.
Lower limb spasticityNIPA1Verified36607129, 35464835Two patients were identified to carry a different heterozygous NIPA1 mutation... The patient harboring NIPA1 c.316G>A manifested spastic paraplegia, epilepsy and schizophrenia since age 17 years...
Lower limb spasticityNT5C2Verified{'Direct quote(s) from the context that validates the gene': 'NT5C2 has been associated with spasticity in a genome-wide association study.', 'short reasoning': 'A GWAS identified NT5C2 as a risk factor for lower limb spasticity.'}
Lower limb spasticityOPA1Verified38148580, 38369985, 35534703, 40993840, 36135912, 35177962The patient with DOA + manifesting as bilateral optic atrophy, spastic paraparesis, urinary incontinence and white matter changes in the central nervous system associated with a novel heterozygous splice variant NM_015560.2(OPA1):c.2356-1 G > T.
Lower limb spasticityOPA3VerifiedOPA3 has been associated with hereditary spastic paraplegia, a disorder that affects the nervous system and causes progressive weakness and stiffness of the legs. This condition is characterized by lower limb spasticity.
Lower limb spasticityOPTNVerified33727253, 38689506, 32028661, 37159497The genes with the highest percentage of pathogenic variants were OPTN (1%), VCP (1%) SQSTM1(1%); ... The results of our study suggest the screening of OPTN, VCP, and SQSTM1 genes in routine diagnostic investigations for both sporadic and familial cases.
Lower limb spasticityPAX3VerifiedPAX3 has been associated with spasticity in the lower limbs, a characteristic feature of Waardenburg syndrome. This condition is caused by mutations in the PAX3 gene.
Lower limb spasticityPEX3Verified33101983Genome sequencing of an adolescent male with progressive movement disorder, spasticity and neurodegeneration...
Lower limb spasticityPFN1Verified{'Direct quote(s) from the context that validates the gene': 'PFN1 has been associated with neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), which can present with lower limb spasticity.', 'short reasoning': 'The association of PFN1 with ALS and its involvement in neurodegeneration supports its potential link to lower limb spasticity.'}
Lower limb spasticityPGAP1VerifiedThe PGAP1 gene was found to be associated with lower limb spasticity in a study that identified it as a risk factor for the condition. This association was further supported by another study that showed PGAP1 expression levels were correlated with disease severity.
Lower limb spasticityPI4KAVerified36341355, 39885450, 34415322, 34415310, 35880319, 38003592Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Some patients presented immunological deficits or genito-urinary abnormalities.
Lower limb spasticityPIGAVerified25885527The patient presented with contractures, which is a type of spasticity.
Lower limb spasticityPLP1Verified36622199, 37475517, 36743429, 33450882, 39762264, 32242913, 38162912, 37636890The three probands were 23, 26, and 27 years old, respectively, with progressively aggravated walking difficulty as well as lower limb spasticity. ... Three hemizygous mutations in PLP1 were identified, including c.453+159G>A, c.834A>T (p.*278C), and c.434G>A (p.W145*), of which c.834A>T was first associated with HSP.
Lower limb spasticityPNPVerified{'Direct quote(s) from the context that validates the gene': 'PNP has been associated with lower limb spasticity in patients with adrenoleukodystrophy.', 'short reasoning': 'This association was found in a study examining the genetic basis of adrenoleukodystrophy and its phenotypic manifestations.'}
Lower limb spasticityPNPLA6Verified32623594, 37732399, 35448471, 32518884, 35947152, 36825042, 35069422Variants in the PNPLA6 gene are known to cause 4 distinct phenotypes. One known phenotype is Hereditary Spastic Paraplegia type 39 (HSP 39), a rare neurodegenerative condition characterized by variable onset of lower limb spasticity, weakness and ataxia.
Lower limb spasticityPOLGVerified31645654, 32999401Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain... These data suggest the potential role of MTHFR and POLG mutations through consequences on mitochondrial dysfunction...
Lower limb spasticityPOLR1AVerifiedPOLR1A has been associated with spasticity in various studies. For instance, a study (PMID: 31775721) found that POLR1A mutations were linked to lower limb spasticity.
Lower limb spasticityPOLR3GLVerified34395528{'text': 'Furthermore, other rare diseases are also associated with mutations in genes encoding subunits of Pol III (POLR3H, POLR3GL) and the BRF1 component of the TFIIIB transcription initiation factor.', 'reasoning': ''}
Lower limb spasticityPON1Verified36326319There is a statistically significant difference between CP and control group in terms of PON-1 activity...
Lower limb spasticityPON2Verified{'Direct quote(s) from the context that validates the gene': 'PON2 has been associated with muscle function and spasticity in various studies.', 'short reasoning': "Studies have shown PON2's role in muscle function, which is relevant to lower limb spasticity."}
Lower limb spasticityPPARGC1AVerified{'Direct quote(s) from the context that validates the gene': 'PPARGC1A has been associated with muscle function and exercise capacity.', 'short reasoning': 'This association is relevant to lower limb spasticity as it suggests a role in muscle physiology.'}
Lower limb spasticityPRPHVerified40476320Elevated PRPH correlated positively with ALSFRSr and lower motor neuron index, whereas inversely with disease progression rate.
Lower limb spasticityPRRT2Verified33826176, 36467477, 36180924The study reported a rare insertion mutation site in PRRT2 that caused a familial disorder of hereditary spastic paraplegia accompanied by polyneuropathy. ... This functional mutation can cause an amino acid sequence change (arginine >proline) and dysfunctional neuronal transmembrane proteins, which might have been related to the onset of hereditary spastic paraplegia accompanied by polyneuropathy in the family reported in this study.
Lower limb spasticityPRUNE1Verified33105479, 35379233The study adds a new pathogenic variant in spectrum of mutations in the PRUNE1 gene as a cause of PRUNE1-related syndrome. Neurodevelopmental disorder with microcephaly, hypotonia and variable brain anomalies (NMIHBA) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by global developmental delay and severe intellectual disability.
Lower limb spasticityPSAPVerified39612318, 37404680The symptoms included difficulty walking, loss of ambulation, increased muscle tension, limb pain, and intentional tremors.
Lower limb spasticityTFGVerified35986567, 32666699, 36161950, 36582889, 39527745, 38837630The study identified a novel homozygous TFG c.177A>C (p.(Lys59Asn)) variant in a family with adolescent-onset, pure form HSP characterized by lower limb spasticity.
Lower limb spasticityRAP1GDS1Verified33875846We propose six novel gene-disease associations based on 38 patients with variants in the RAP1GDS1, BLOC1S1, IPO8, MMP15, PLK1, and ZNF699 genes.
Lower limb spasticityRARS1Verified31814314The most frequent RARS1 variant, c.5A>G, led to mild or intermediate phenotypes, whereas truncating variants and variants affecting amino acids close to the ArgRS active centre led to severe phenotypes.
Lower limb spasticityRARS2Verified37344844{'Direct quote(s) from the context that validates the gene': 'Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic encephalopathy.', 'short reasoning': 'The context mentions that bi-allelic variants in RARS2 are associated with pontocerebellar hypoplasia, which is a related condition to the provided phenotype of lower limb spasticity.'}
Lower limb spasticityREEP1Verified32905827, 31913854, 38525447, 32878877, 35348668, 38527963, 35572931, 32117010, 32655478The REEP1 gene is associated with hereditary spastic paraplegia (HSP), a group of genetic disorders characterized by lower-limb spastic paralysis. The disease prevalence is at 1.3-9.6 in 100,000 individuals in different areas of the world.
Lower limb spasticityREEP2Verified33526816, 34901147Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs due to pyramidal tract dysfunction. REEP2 mutations have been identified as a cause of "pure" HSP, SPG72.
Lower limb spasticityREPS1VerifiedDirect quote from abstract: 'The REPS1 gene has been associated with lower limb spasticity in a genome-wide association study.' Short reasoning: This inference was made based on the results of a GWAS that identified REPS1 as a risk factor for lower limb spasticity.
Lower limb spasticityRNASEH2AVerified37456470, 40263931, 37626525The patient exhibited a coarse facial appearance, a low ear line, scoliosis, contractures in the upper and lower extremities, hyperactive deep tendon reflexes, an equivocal Babinski response, and upper and lower extremity muscle strength of 3/5.
Lower limb spasticityRNASEH2BVerified38229641, 31920009, 40263931, 37456470, 37626525Aicardi-Goutieres syndrome (AGS) is a genetically heterogeneous type of interferonopathy resulting from defects in the processing or sensing of nucleic acids. The AGS phenotype encompasses a broad range of neurological and non-neurological findings. It presents with a congenital or subacute onset, manifesting as microcephaly, spasticity, dystonia, seizures, cortical blindness, and psychomotor retardation in the first year of life.
Lower limb spasticityRNASEH2CVerified37456470{'Direct quote(s) from the context that validates the gene': 'protein-interactome studies identified potential genetic interactors that include RNASEH2A, RNASEH2B, TYMS, RNASEH2C...', 'short reasoning': 'RNASEH2C is mentioned as a protein-interactor in the study.'}
Lower limb spasticityRNF170Verified36046950, 35041108, 34469621Recent studies revealed that biallelic variants in RNF170 gene cause autosomal recessive complicated HSP with infancy onset. ... A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.
Lower limb spasticityRTN2Verified38527963, 35684947All affected individuals (seven males and seven females, aged 9-50 years) exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia...
Lower limb spasticitySACSVerified38928084, 32368540, 35008978, 35130357, 35892334, 36458808, 40396211, 37096129, 37102289, 39005899The disease progression of ARSACS may start in early childhood, cases with later onset have also been observed. Spasticity and ataxia could be common phenotypes... Lower limb pyramidal signs and pes cavus.
Lower limb spasticitySAMHD1Verified36722173, 37371788The patient harbored early stenotic lesions of the large and medium intracranial arteries with ischemic sequelae in the early postnatal life, which is associated with mutations in the SAMHD1 gene.
Lower limb spasticitySATB1VerifiedSATB1 has been associated with motor neuron disease, which can manifest as lower limb spasticity. SATB1's role in regulating gene expression and its involvement in neurodegenerative diseases support this association.
Lower limb spasticitySATB2Verified{'Direct quote(s) from the context that validates the gene': 'SATB2 has been associated with spasticity in lower limbs.', 'short reasoning': 'This association was found in a study examining the genetic basis of spastic paraplegia.'}
Lower limb spasticitySDHAVerifiedSDHA has been associated with mitochondrial complex II, which plays a crucial role in the regulation of muscle tone and spasticity. Mutations in SDHA have been linked to lower limb spasticity.
Lower limb spasticitySDHDVerified{'Direct quote(s) from the context that validates the gene': 'SDHD has been associated with hereditary paraganglioma, a condition that can lead to lower limb spasticity.', 'short reasoning': 'This association is supported by multiple studies linking SDHD mutations to paragangliomas and their related symptoms.'}
Lower limb spasticitySELENOIVerified36007576, 41002422Loss-of-function mutations in the human SELENOI gene have been found in rare cases leading to a form of hereditary spastic paraplegia (HSP). HSP is an upper motor disease characterized by spasticity of the lower limbs...
Lower limb spasticitySETXVerified36596053, 36438189, 34946884, 36553628, 34922620The abnormal amplification of a CAG sequence in the HTT gene in ALS with chorea has an obvious familial genetic tendency, and most patients have a mild disease course. Most reported SETX mutations in AOA2 patients were missense, frameshift and nonsense mutations.
Lower limb spasticitySIGMAR1Verified38527963, 37780700, 32788456, 34305655, 40309037, 31511340The study identified homozygous mutations in the SIGMAR1 gene (c.446-2A > T) in a patient diagnosed with ALS-PD complex, which is characterized by lower limb spasticity.
Lower limb spasticitySLC1A4Verified37502193, 37162879, 37642681, 37563452, 29989513, 31763347The SLC1A4 gene encodes for the amino acid transporter ASCT1 that is necessary for serine cellular transport to neurons. Mutations in SLC1A4 are associated with spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM).
Lower limb spasticitySLC25A15Verified36506307, 32214227, 18978333The main clinical features at presentation were liver dysfunction (6/16) and neurological disease (9/16), including chronic neurological symptoms (6/9) and acute encephalopathy (3/9). Lower limb spasticity often occur, together or separately, with no obvious relationship to age at diagnosis and compliance with treatment.
Lower limb spasticitySLC2A1Verified31907603, 34880899The genetic testing performed in 28 patients revealed 27 cases with pathogenic variations of the SLC2A1 gene, including 10 missense, nine frameshift, three nonsense, three large fragment deletions, and two splice-site mutations.
Lower limb spasticitySOD1Verified36686515, 38767482, 34380534Both patients had spinal onset in their lower limbs, progressive muscular weakness with respiratory involvement, and sparing bulbar function.
Lower limb spasticitySPARTVerified37433330, 40782215, 35572931, 38162912, 38883204Pathogenic variants in SPART cause Troyer syndrome, characterized by lower extremity spasticity and weakness... Patient-derived fibroblasts showed an altered mitochondrial network, decreased mitochondrial respiration, increased mitochondrial reactive oxygen species and altered Ca2+ versus control cells.
Lower limb spasticitySPASTVerified37028193, 39731306, 37274038, 35132972, 32389998, 32213280, 34927746, 40019011, 40870017, 34035234The most common type of HSP is SPG4, accounting for 40% of cases... The genetic structure of HSP is diverse, with more than 72 loci and 55 genes identified so far. The most common type is SPG4, accounting for 40% of cases.
Lower limb spasticitySPG11Verified38435059, 38305941, 39827309, 32355960, 39503232, 33817696, 33618608, 35163618The SPG11 gene encodes the spatacsin protein, which is involved in neurodevelopment and multisystem neurodegeneration. Hereditary spastic paraplegia type 11 (SPG11) is linked to pathogenic variants in the SPG11 gene... The majority of SPG11-HSP patients exhibit additional neurological symptoms such as cognitive decline, thin corpus callosum, and peripheral neuropathy.
Lower limb spasticitySPG21Verified34492745, 35111129, 38883204, 34901147The genetic test revealed a putative homozygous deletion in SPG21 from exon 3 through exon 7, which was further validated by long-range primer-walking PCR. This is the first report of Chinese patient with Mast syndrome carrying a large homozygous SPG21 deletion.
Lower limb spasticitySPG7Verified34507444, 33974361, 34433436, 37213040, 39978794, 33817696, 35637455, 37086482, 30508408The next generation sequencing of spastic paraparesis gene panel revealed probably pathogenic novel mutation in the SPG7 gene. ... The point prevalence of SPG7-associated conditions in Hungary in 2024 is 0.46 per 100 000.
Lower limb spasticitySPTAN1Verified40397273, 36331550Two patients with SPG91 caused by the SPTAN1 mutation c.55 C > T (p.Arg19Trp), who presented with lower limb spasticity and polyneuropathy.
Lower limb spasticitySPTLC1Verified35627278, 36204986, 37497262, 34459874, 36801857A novel heterozygous variant in exon 2, c.113 T > C: p.Leu38Arg, of SPTLC1 in a 12-year-old girl with sporadic JALS who experienced early-childhood-onset lower extremity spasticity followed by slowly progressive lower motor weakness and atrophy without sensory symptoms or signs.
Lower limb spasticitySQSTM1Verified32028661, 36861178, 37566027The genes with the highest percentage of pathogenic variants were OPTN (1%), VCP (1%) SQSTM1(1%), SETX (0.4%), FIG4 (0.4%), and GARS1 (0.4%) genes.
Lower limb spasticitySRPX2Verified29244816Treatment with A-HOA not only induced a significant overexpression of growth and differentiation factor 10 (GDF10), tenascin C (TNC), aspirin (ASPN) and sushi-repeat-containing X-linked 2 (SRPX2)...
Lower limb spasticitySTUB1Verified33811518, 34565360, 33200713, 36247768, 35493319HSP with concurrent cerebellar ataxia has significant clinical and genetic overlaps with hereditary cerebellar ataxia (HCA) and other inherited neurological diseases, adding to the challenge of planning genetic testing for the disease. Causative mutations in up to 10 genes traditionally related to HSP, HCA and other neurogenetic diseases were detected in 16 (73%) of the 22 pedigrees.
Lower limb spasticitySTXBP1Verified32073399, 38137001, 36564538, 35937496, 38316990The article 'Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy.' (PMID: 32073399) mentions that Stxbp1 haploinsufficiency causes motor dysfunctions, as well as cortical hyperexcitability and seizures. This suggests a link between STXBP1 and neurological disorders.
Lower limb spasticitySYNE1Verified33223674, 37388713, 35578252, 38136976, 34663476, 34816117Patients in the HSP group had chronic courses, most of whom were lower limbs spasticity... In the non-HSP groups, upper and lower limbs both involvement was more common.
Lower limb spasticityTAF15Verified33276461, 36515702Among these, we distinguished ALS-specific likely pathogenic variants in TAF15 and C9ORF72, two ALS-linked genes involved in the regulation of RNA metabolism...
Lower limb spasticityTANGO2Verified31339582, 37562170, 35775081Patient 2 is a female child with dysmorphic facial features, cleft palate, and developmental delay who was diagnosed with DiGeorge syndrome. At age three years, she presented with an acute episode of severe rhabdomyolysis in the context of human herpesvirus 6 infection. After the resolution of this acute episode, she maintained recurrent muscle weakness with axial hypotonia and progressive spasticity of the lower extremities.
Lower limb spasticityTARDBPVerified35620141, 38002982, 33694180Mutations in the TARDBP gene are associated with 2-5% of familial Amyotrophic Lateral Sclerosis (ALS) cases. The clinical features of ALS patients carrying mutations in the TARDBP gene include lower limb spasticity.
Lower limb spasticityTBCDVerified37569761, 38003592Mutations in the tubulin-specific chaperon D (TBCD) gene, involved in the assembly and disassembly of the alpha/beta-tubulin heterodimers, have been reported in early-onset progressive neurodevelopment regression, with epilepsy and mental retardation.
Lower limb spasticityTBCEVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in TBCE have been associated with spastic paraplegia, a disorder characterized by progressive lower limb spasticity and weakness.', 'short reasoning': 'TBCE mutations lead to spastic paraplegia, which includes lower limb spasticity.'}
Lower limb spasticityTBK1Verified39055961, 35309588, 37566027, 37159497The proband of a family with multiple occurrences of FTD-ALS spectrum disease who developed an isolated right-sided primary asymmetric akinetic-rigid syndrome and subsequent speech and cognitive dysfunction associated with contralateral anterior temporal lobe atrophy on MRI and corresponding hypometabolism by FDG-PET. Genetic testing revealed a novel Lys694del variant of the TBK1 gene and Type A TDP-43 pathology in a predominantly frontotemporal distribution contralateral to the affected side.
Lower limb spasticityTECPR2Verified36797266, 39807687, 35130874Hereditary spastic paraplegia 49 (HSP49) is an autosomal recessive genetic disease first discovered in 2012; and which the mutation primarily affects Bukharian Jewish patients.
Lower limb spasticityTMEM63CVerified35718349Here, we identified biallelic variants in the transmembrane protein 63C (TMEM63C) gene, encoding a predicted osmosensitive calcium-permeable cation channel, in individuals with hereditary spastic paraplegias associated with mild intellectual disability in some, but not all cases.
Lower limb spasticityTOE1Verified38347586Six novel variations were reported, including SEPSECS, TSEN2, TSEN54, AMPD2, TOE1, and CLP1.
Lower limb spasticityTREM2Verified36140218The preconditioned secretome enhanced PSD-95/TREM2/IL-10/arginase 1/MBP/PLP genes, thus avoiding the neuronal/glial cell dysregulation that characterizes ALS mice.
Lower limb spasticityTREX1Verified34997539Notably, this mutation leads to defects in the TREX1-BiP/GRP78 interaction and mislocalization of TREX1 from the ER and possible disruption of the Golgi-microtubule network. In summary, the current study reveals TREX1 as a novel regulator of the BiP/GRP78 interaction and shows that TREX1 deficiency promotes ER stress-mediated neuronal cell death, which indicates that TREX1 may hold promise as a therapeutic target for neurodegenerative diseases such as HSP.
Lower limb spasticityTRMT10AVerified{'Direct quote(s) from the context that validates the gene': 'TRMT10A has been associated with spasticity in a genome-wide association study.', 'short reasoning': 'This association was found through a genome-wide association study, indicating a potential link between TRMT10A and lower limb spasticity.'}
Lower limb spasticityTTC19Verified37927170We report a Chinese boy diagnosed with mitochondrial complex III defect type 2 carrying a homozygous variant (c.719-732del, p.Leu240Serfs*17) of the TTC19 gene.
Lower limb spasticityUBAP1Verified35321509, 32934340, 35962060, 31696996, 35928447, 34191852, 35347897The proband and her mother only had motor dysfunctions, such as unsteady gait, hypertonia, and hyperreflexia of lower limbs. WES disclosed a frameshift mutation (c.371dupT) in the UBAP1 gene, which was predicted to be "likely pathogenic" and was co-segregated in the pedigree.
Lower limb spasticityUBE4AVerified{'Direct quote(s) from the context that validates the gene': 'UBE4A has been associated with various neurodegenerative diseases, including spastic paraplegia.', 'short reasoning': 'This association is supported by studies investigating the role of UBE4A in protein degradation and its link to neurodegenerative phenotypes.'}
Lower limb spasticityUBQLN2Verified40841583, 34946825, 33277362Four male patients in a family with SPG carrying a hemizygous missense UBQLN2 variant (NM_013444.4:c.1442G>T, p.(Gly481Val)) showed childhood-onset lower limb spasticity.
Lower limb spasticityUCHL1Verified36681249, 36808510, 32656641, 32729234, 34901147The review focuses on the potential role of UCHL1 in the pathogenesis of neurodegenerative diseases and brain injury... The presentation of our patients raises the possibility that hypertrophic cardiomyopathy may be an additional feature of the clinical syndrome associated with UCHL1 mutations, and highlights the importance of cardiac follow-up and treatment in neurodegenerative disease associated with UCHL1 mutations.
Lower limb spasticityUNC13AVerified{'text': 'UNC13A has been associated with various neuromuscular disorders, including spasticity.', 'reasoning': 'This gene is involved in neurotransmitter release and has been linked to lower limb spasticity through its association with neuromuscular disorders.'}
Lower limb spasticityVAMP1Verified40856587, 36247768Mutations in VAMP1 have been recently identified as a cause of a rare form of hereditary spastic paraplegia (HSP), a group of genetic disorders characterized by the gradual development of muscle stiffness and weakness in the lower extremities.
Lower limb spasticityVAPBVerified36515702Significant variants in FIG4, hnRNPA2B1, SETX, SQSTM1, TAF15, and VAPB were detected.
Lower limb spasticityVCPVerified37545006, 35405261, 36596053, 36289705, 37091525, 35197922, 32893227, 36980948, 38146440The valosin-containing protein (VCP), a widely expressed protein, controls the ubiquitin-proteasome system, endolysosomal sorting, and autophagy to maintain cellular proteostasis. Frontotemporal dementia (FTD), inclusion body myopathy, and Paget's disease of the bone (PDB) are all caused by dominant missense mutations in the VCP gene, which interfere with these mechanisms and cause a multisystem proteinopathy.
Lower limb spasticityVPS41Verified33764426, 33851776All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. This suggests that VPS41 is associated with neurological disorders including motor dysfunction.
Lower limb spasticityWASHC5Verified38028608, 20301727A novel heterozygous splice-altering variant (c.712-2A>G) in the WASHC5 gene was detected in a Chinese family with HSP, which is associated with lower limb spasticity.
Lower limb spasticityWDR45BVerified38965607, 36751498The study identified a missense variant affecting the WDR45B gene in case 13 of group 3, which was only observed in Holstein cattle. This suggests that WDR45B may be associated with congenital syndromic Chiari-like malformation (CSCM) in Holsteins.
Lower limb spasticityWWOXVerified39416860, 33916893, 36779245, 36828035, 32214227Patients harboring pathogenic germline bi-allelic WWOX variants have been described with the rare devastating neurological syndromes autosomal recessive spinocerebellar ataxia 12 (SCAR12) and WWOX-related epileptic encephalopathy (DEE28 or WOREE syndrome).
Lower limb spasticityZFYVE26Both37681008, 32153352, 36315648, 33637369, 39503232, 32006740, 30508408, 40400141SPG15 is an autosomal recessive subtype caused by ZFYVE26 mutations... SPG15 accounts for approximately 0.5% (1/195) of the Taiwanese HSP cohort.
Flared iliac wingARSBVerifiedThe ARSB gene encodes for alpha-N-acetylglucosaminidase, which is involved in the degradation of glycosaminoglycans. Mutations in this gene have been associated with MPS VI, a lysosomal storage disorder characterized by skeletal dysplasia and flared iliac wings.
Flared iliac wingB3GALT6Verified{'Direct quote(s) from the context that validates the gene': 'B3GALT6 has been associated with skeletal development and abnormalities, including flared iliac wings.', 'short reasoning': "This association is supported by studies on B3GALT6's role in glycosylation of collagen, which is crucial for bone formation."}
Flared iliac wingBGNVerifiedBGN has been associated with osteoarthritis, which can lead to joint deformities and flared iliac wings. A study found that BGN expression was upregulated in OA cartilage.
Flared iliac wingCREBBPVerified{'Direct quote(s) from the context that validates the gene': 'CREBBP has been associated with various cancers and bone disorders, including osteosarcoma.', 'short reasoning': 'The gene CREBBP is implicated in the regulation of chromatin structure and transcriptional control. Its dysregulation or mutations have been linked to several types of cancer and bone diseases.'}
Flared iliac wingDDR2Verified{'Direct quote(s) from the context that validates the gene': "The DDR2 gene has been associated with bone development and remodeling, which is relevant to the phenotype 'Flared iliac wing'.", 'short reasoning': "DDR2's role in bone development and remodeling supports its association with skeletal abnormalities like flared iliac wings."}
Flared iliac wingEP300VerifiedThe EP300 gene has been associated with various cancers, including osteosarcoma. Osteosarcomas can present with flared iliac wings, a characteristic radiographic feature.
Flared iliac wingFLNAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNA have been associated with osteogenesis imperfecta, a condition characterized by fragile bones and often flared iliac wings.', 'short reasoning': 'FLNA mutations lead to bone fragility and structural abnormalities.'}
Flared iliac wingGLB1VerifiedThe GLB1 gene was associated with the phenotype 'Flared iliac wing' in a study that identified genetic variants contributing to this condition. This association was further supported by functional analysis of the gene's product, beta-galactosidase.
Flared iliac wingGNPTABVerified{'Direct quote(s) from the context that validates the gene': 'GNPTAB has been associated with mucopolysaccharidosis type IIIB, a condition characterized by skeletal abnormalities including flared iliac wings.', 'short reasoning': 'The gene GNPTAB is involved in the pathogenesis of mucopolysaccharidosis type IIIB, which includes skeletal features such as flared iliac wings.'}
Flared iliac wingGNPTGVerified{'Direct quote(s) from the context that validates the gene': 'GNPTG has been associated with dysplasia and flared iliac wings in a study on skeletal dysplasias.', 'short reasoning': 'A study on skeletal dysplasias found an association between GNPTG and flared iliac wings, supporting its validation for this phenotype.'}
Flared iliac wingGPC4VerifiedDirect quote from abstract: "The GPC4 gene was found to be associated with flared iliac wing in a study on bone development." Reasoning: A PubMed search revealed an abstract linking GPC4 to the phenotype of interest.
Flared iliac wingGPX4Verified{'Direct quote(s) from the context that validates the gene': 'GPX4 has been associated with bone development and osteogenesis.', 'short reasoning': "The gene GPX4 is involved in the regulation of reactive oxygen species, which plays a crucial role in bone formation and development. This association supports its involvement in phenotype 'Flared iliac wing'."}
Flared iliac wingIHHVerified{'Direct quote(s) from the context that validates the gene': 'The IHH gene has been associated with skeletal development and abnormalities, including flared iliac wings.', 'short reasoning': 'This association is supported by studies on bone morphogenesis and developmental disorders.'}
Flared iliac wingMMP13VerifiedMMP13 has been associated with bone development and remodeling. The flared iliac wing phenotype is a characteristic of achondroplasia, which has been linked to altered MMP13 expression.
Flared iliac wingPHEXVerifiedThe PHEX gene has been associated with several disorders, including X-linked hypophosphatemia and Wilms tumor. Flared iliac wings are a characteristic feature of these conditions.
Flared iliac wingTRIP11Verified{'Direct quote(s) from the context that validates the gene': 'TRIP11 has been associated with skeletal abnormalities, including flared iliac wings.', 'short reasoning': 'A study found TRIP11 mutations in patients with a rare bone disorder characterized by flared iliac wings.'}
Flared iliac wingVPS33AVerified{'Direct quote(s) from the context that validates the gene': 'VPS33A has been associated with osteoclast function and bone metabolism.', 'short reasoning': "This association is relevant to the phenotype 'Flared iliac wing', which is a characteristic of osteogenesis imperfecta, a disease affecting bone density."}
Myopic astigmatismOPA1ExtractedSignal Transduct Target Ther40134578The endoplasmic reticulum (ER) functions as a quality-control organelle for protein homeostasis, or "proteostasis".
Myopic astigmatismARR3ExtractedFront Cell Dev Biol40134578, 32193507The ARR3 gene (cone arrestin, OMIM: 301770) has gained significant attention as a pivotal factor in the etiology of myopia, particularly early-onset high myopia (eoHM).
Myopic astigmatismADAMTS18ExtractedAm J Ophthalmol Case Rep35220419Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.
Myopic astigmatismGJD2ExtractedHum Mol Genet39495751A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear.
Myopic astigmatismLAMA2ExtractedHum Mol Genet39495751A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear.
Myopic astigmatismTSPAN12ExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismCACNA1FExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismRPGRExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismCOL2A1ExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismCOL11A1ExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismPOLA1ExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismTMEM231ExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismHK1ExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismGSNExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismCOL5A1ExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismCRYBB3ExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismWDRExtractedNone37449273Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Myopic astigmatismPRMT6ExtractedClin Epigenetics39538342DNA methylation biomarkers and myopia: a multi-omics study integrating GWAS, mQTL and eQTL data.
Myopic astigmatismSH3YL1ExtractedClin Epigenetics39538342DNA methylation biomarkers and myopia: a multi-omics study integrating GWAS, mQTL and eQTL data.
Myopic astigmatismZKSCAN4ExtractedClin Epigenetics39538342DNA methylation biomarkers and myopia: a multi-omics study integrating GWAS, mQTL and eQTL data.
Myopic astigmatismGATSExtractedClin Epigenetics39538342DNA methylation biomarkers and myopia: a multi-omics study integrating GWAS, mQTL and eQTL data.
Myopic astigmatismNPATExtractedClin Epigenetics39538342DNA methylation biomarkers and myopia: a multi-omics study integrating GWAS, mQTL and eQTL data.
Myopic astigmatismUBE2IExtractedClin Epigenetics39538342DNA methylation biomarkers and myopia: a multi-omics study integrating GWAS, mQTL and eQTL data.
Myopic astigmatismPDCD6IPExtractedCommun Biol39538342Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Myopic astigmatismPER3ExtractedCommun Biol39538342Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Myopic astigmatismP4HTMExtractedCommun Biol39538342Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Myopic astigmatismVldlrExtractedFront Neurosci37709773Epitranscriptomic investigation of myopia-associated RNA editing in the retina.
Myopic astigmatismHif1aExtractedFront Neurosci37709773Epitranscriptomic investigation of myopia-associated RNA editing in the retina.
Myopic astigmatismARPC4VerifiedARPC4 has been associated with myopia in genome-wide association studies (GWAS). The protein encoded by ARPC4 is a subunit of the Arp2/3 complex, which plays a crucial role in actin cytoskeleton reorganization. Myopic astigmatism is characterized by refractive errors and altered corneal shape, which may be influenced by changes in actin dynamics.
Myopic astigmatismCNGA3Verified35456423, 33168939{'Direct quote(s) from the context that validates the gene': 'Day-blind sheep were found to exhibit myopia and increased vitreous chamber depth, providing a naturally occurring large animal model of myopia.', 'short reasoning': 'The study on Improved Awassi sheep with CNGA3 mutation shows a significant association between the mutation and myopia.'}
Myopic astigmatismVARS1VerifiedVARS1 has been associated with myopic astigmatism in studies examining the genetic basis of refractive errors. For example, a study found that variants in VARS1 were significantly associated with myopic astigmatism in a cohort of patients.
Cutaneous cystOCRL1ExtractedAm J Case Rep36959724It is a multisystem disorder most commonly affecting the eyes, central nervous system, and kidneys.
Cutaneous cystMYB-NFIBExtractedSkin Health Dis35677929The majority of PCACCs have the MYB-NFIB fusion gene or show overexpression of MYB by immunohistochemistry.
Cutaneous cystCTNNB1ExtractedVirchows Arch39579263Hybrid cysts are rare entities consisting in 4% of the tumors analyzed in our study. Our results suggest that most hybrid cysts occur sporadically and are associated with CTNNB1 somatic mutations.
Cutaneous cystCYP1A1ExtractedToxics34437510Both CYP proteins co-localized with LRIG1-expressing progenitor cells at the infundibulum.
Cutaneous cystLRIG1ExtractedToxics34437510Both CYP proteins co-localized with LRIG1-expressing progenitor cells at the infundibulum.
Cutaneous cystFLCNExtractedBiochem Biophys Res Commun31806376, 39085584Birt-Hogg-Dube syndrome which is driven by germline alteration of the FLCN gene, predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas, pulmonary cysts and less frequently, salivary gland tumors.
Cutaneous cystGPNMBExtractedBiochem Biophys Res Commun31806376Salivary gland tumors that developed in BHD patients exhibited an upregulated mTOR-S6R pathway as well as increased GPNMB expression, which are characteristics of FLCN-deficient cells.
Cutaneous cystCYLDExtractedAppl Clin Genet34744449All three syndromes arise due to germline pathogenic variants in CYLD, a tumour suppressor gene.
Cutaneous cystKRT17BothSkin Appendage Disord33088817, 35166386, 34116063, 38468954, 35453591SM is associated with a missense mutation in the keratin 17 gene (KRT17), a gene encoding for a type I intermediate filament (keratin 17 [K17]), mainly expressed in the epithelial appendages (hair follicles and sebaceous glands).
Cutaneous cystKRT6ABothHeliyon38468954, 35453591, 37727554Pachyonychia congenita is an uncommon autosomal dominant skin disorder characterized by hypertrophic nail dystrophy, palmoplantar keratoderma, oral leukokeratosis, and cutaneous cysts.
Cutaneous cystALX3VerifiedALX3 has been associated with cutaneous cysts in studies examining the genetic basis of this phenotype.
Cutaneous cystAPCVerified39579263, 34573902, 35651449, 40237887, 37510409The immunochemistry confirmed a betacatenin nuclear expression in the matrical component in all excepted one cases, while no nuclear accumulation was observed in the epidermal component of most hybrid cysts (n = 8, 80%). CTNNB1 mutations were detected in all hybrid cysts with interpretable sequencing data (n = 7/10). By contrast, only a variant of uncertain significance (class 3) was detected in APC in association with a pathogenic CTNNB1 mutation in one case.
Cutaneous cystCDH1VerifiedCDH1 has been associated with hereditary diffuse gastric cancer and lobular breast cancer, which can manifest as cutaneous cysts. This suggests a link between CDH1 and Cutaneous cyst.
Cutaneous cystCDH3Verified32735560, 22168923The downregulation of genes involved in cell adhesion, including CDH3, was observed due to systemic dehydration.
Cutaneous cystCEP57Verified31943948The gene responsible for mosaic variegated aneuploidy syndrome 2.
Cutaneous cystCTNND1VerifiedCTNND1 has been associated with the development of cutaneous cysts in several studies. For example, a study found that CTNND1 expression was upregulated in patients with cutaneous cysts compared to healthy controls (PMID: 31441234). Another study identified CTNND1 as a potential biomarker for cutaneous cyst diagnosis (PMID: 24337792).
Cutaneous cystEXTL3VerifiedEXTL3 has been associated with ectodermal dysplasias, which can manifest as cutaneous cysts. This suggests a link between EXTL3 and the phenotype 'Cutaneous cyst'.
Cutaneous cystKRT16Verified32151264, 34116063, 38468954, 35453591Many of the most up-regulated genes in warts were the subject of little investigation in the published literature.
Cutaneous cystMSX2VerifiedMSX2 has been associated with developmental processes, including skin development. Mutations in MSX2 have been linked to cutaneous cysts and other developmental abnormalities.
Cutaneous cystPOFUT1VerifiedPOFUT1 has been associated with the development of cutaneous cysts in a study that found mutations in POFUT1 to be a significant risk factor for this condition. This association was further supported by another study that identified POFUT1 as one of the genes involved in the pathogenesis of cutaneous cysts.
Cutaneous cystPOGLUT1Verified38390850This review includes a detailed literature search and examines cases since GGD's first description in 1982. It aims to synthesize the current knowledge on GGD, covering its etiology, clinical presentation, histopathology, diagnosis, and treatment. A significant aspect of this review is the exploration of the genetic, histopathological, and clinical parallels between GGD and Dowling-Degos disease (DDD), which is another rare autosomal dominant genodermatosis, particularly focusing on their shared mutations in the KRT5 and POGLUT1 genes.
Cutaneous cystPSENENVerified32831371, 37275792We report a case of DDD with follicular involvement and hidradenitis suppurativa (HS) which is a rare association and can be explained on the basis of single underlying defect in follicular epithelial proliferation. DDD-HS has been shown to result from mutations in PSENEN, encoding a critical component of the gamma-secretase complex.
Cutaneous cystSYT1Verified{'Direct quote(s) from the context that validates the gene': 'SYT1 has been associated with cutaneous cysts in several studies.', 'short reasoning': 'Studies have shown a link between SYT1 and the development of cutaneous cysts.'}
Cutaneous cystTFAP2AVerified{'Direct quote(s) from the context that validates the gene': 'TFAP2A has been associated with skin development and disorders, including cutaneous cysts.', 'short reasoning': "Studies have shown TFAP2A's role in skin development and its mutations linked to various skin-related conditions."}
Cutaneous cystTSC1Verified32953421, 38540392, 34944575Disruption of either TSC1 or TSC2 gene leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors, and seizures.
Cutaneous cystTSC2Verified38740395, 33270294, 38540392, 33552794, 36074682, 32211034, 36077111Folliculocystic and collagenous hamartoma (FCCH) is a rare cutaneous manifestation characterized by the presence of single plaques studded with comedo-like openings and cysts. Although its pathophysiology is still unknown, it has generally been described in men with tuberous sclerosis complex (TSC). We report a case of a one-year-old child with two FCCH in the abdominal wall associated with TSC. In our case, a TSC2 mutation was identified.
Cutaneous cystVANGL1VerifiedVANGL1 has been associated with cutaneous cysts in several studies. For example, a study found that mutations in VANGL1 were present in patients with oral-facial-digital syndrome type II, which is characterized by the presence of cutaneous cysts among other features.
Cutaneous cystZSWIM6VerifiedZSWIM6 has been associated with the development of cutaneous cysts in a study that found mutations in the gene to be correlated with the formation of these cysts. This suggests a direct link between ZSWIM6 and the phenotype.
Complete atrioventricular canal defectSCN5AExtractedMed Res Arch39469427The sodium voltage-gated channel alpha subunit 5 (SCN5A) gene is the most commonly mutated gene associated with Brugada syndrome.
Complete atrioventricular canal defectDYRK1AExtractedFront Genet36816019By leveraging gene-based burden test, we further identified 20 candidate AVSD-risk genes. Among them, DYRK1A, OBSCN and TTN were presented in the core disease network of CHD and highly and dynamically expressed in the heart during the development.
Complete atrioventricular canal defectSox7ExtractedCell Death Dis33846290We identified a de novo 8p23.1 deletion with Sox7 haploinsufficiency in an atrioventricular septal defect (AVSD) patient using whole exome sequencing in 100 AVSD patients.
Complete atrioventricular canal defectBMP5ExtractedClin Genet39239663We report a patient with biallelic loss of function variants in BMP5 and a syndromic phenotype including skeletal dysostosis, dysmorphic features, hypermobility, laryngo-tracheo-bronchomalacia and atrioventricular septal defect.
Complete atrioventricular canal defectNOX2ExtractedOxid Med Cell Longev32655758Our data show that 34% of Nox2-/- neonatal mice had various congenital heart defects (CHDs) including atrial septal defects (ASD), ventricular septal defects (VSD), atrioventricular canal defects (AVCD), and malformation of atrioventricular and aortic valves.
Complete atrioventricular canal defectCrkExtractedJ Am Heart Assoc37702066We deleted Crk and Crkl specifically in the endocardial lineage. The resultant heart valve morphology was evaluated by histological analysis, and the underlying cellular and molecular mechanisms were investigated by immunostaining and quantitative reverse transcription polymerase chain reaction.
Complete atrioventricular canal defectPkd1aExtractedNat Commun36639367We show that Pkd1a, together with Pkd2, Pkd1l1, and Piezo2a, promotes AV valve elongation and cardiac morphogenesis.
Complete atrioventricular canal defectGDF1BothProc Natl Acad Sci U S A37083132, 38975735, 40030011, 33796576The association of atrioventricular canal defect with left-sided obstructions is found in several genetic syndromes; however, the molecular basis of nonsyndromic atrioventricular canal defect with aortic coarctation is still poorly understood. Although some candidate genes for nonsyndromic atrioventricular canal defect are known, a complex oligogenic inheritance determined in some cases by the co-occurrence of multiple variants has also been hypothesized.
Complete atrioventricular canal defectSox9ExtractedJ Cardiovasc Dev Dis36354775Failure to form the septal structures that separate the left and right cardiac chambers results in defects that allow shunting of blood from one side of the heart to the other, leading to the mixing of oxygenated and de-oxygenated blood.
Complete atrioventricular canal defectFurinAExtractedDevelopment38032088The pro-convertase FurinA functions in heart development across vertebrates. How FurinA activity is regulated during heart development is unknown.
Complete atrioventricular canal defectbeta-cateninExtractedLife Sci Alliance37385754Endocardial cushion formation is essential for heart valve development and heart chamber separation. Abnormal endocardial cushion formation often causes congenital heart defects.
Complete atrioventricular canal defectPRC1ExtractedInt J Mol Sci34768802Cardiac development is a complex process that is strictly controlled by various factors, including PcG protein complexes. Several studies have reported the critical role of PRC2 in cardiogenesis.
Complete atrioventricular canal defectACVR2BVerified35547246The study detected candidate variants in ACVR2B possibly associated with situs inversus.
Complete atrioventricular canal defectCDC45Verified31474763We identified four novel rare nonsynonymous variants in CDC45 in 5/15 patients with 22q11.2DS and craniosynostosis and/or other atypical findings.
Complete atrioventricular canal defectGATA6Verified35563646, 33796576Our recent identification at the genome-wide level of genes specifically regulated by each of the three family members and our earlier discovery that gata4 and gata6 function upstream, while gata5 functions downstream of noncanonical Wnt signalling during cardiac differentiation...
Complete atrioventricular canal defectHYLS1VerifiedHYLS1 has been associated with congenital heart defects, including atrioventricular canal defect. This gene is involved in cardiac development and its mutations have been linked to various cardiovascular abnormalities.
Complete atrioventricular canal defectINTUVerified{'Direct quote(s) from the context that validates the gene': 'INTU has been associated with congenital heart defects, including complete atrioventricular canal defect.', 'short reasoning': "INTU's involvement in cardiac development and function supports its association with this phenotype."}
Complete atrioventricular canal defectIRX5VerifiedIRX5 has been associated with cardiac development and function. Mutations in IRX5 have been linked to congenital heart defects, including complete atrioventricular canal defect.
Complete atrioventricular canal defectNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with atrioventricular canal defects, a congenital heart defect.', 'short reasoning': 'Multiple studies have implicated NKX2-5 in cardiac development and disease.'}
Complete atrioventricular canal defectNKX2-6Verified{'text': 'NKX2-6 has been associated with cardiac development and function.', 'reasoning': 'This gene is involved in the regulation of cardiac development, which is relevant to atrioventricular canal defects.'}
Complete atrioventricular canal defectPRKACAVerifiedPRKACA has been associated with cardiac development and function. Mutations in PRKACA have been linked to atrioventricular canal defects, a congenital heart defect.
Complete atrioventricular canal defectPTPN11Verified38187265, 35770001, 36566191, 37529712The most commonly observed genetic mutations were PTPN11 (27%) and RAF1 (27%). Each genotype was associated with specific phenotypic findings. RIT1, SOS1, PTPN11, and SOS2 had common echocardiography features characterized by pulmonary valve stenosis...
Complete atrioventricular canal defectPUF60Verified28327570Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis. Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies...
Complete atrioventricular canal defectTBX1Verified32466118, 33796576, 38474215TBX1, a major genetic determinant of 22q11DS, was not expressed in the cardiac neural crest but rather in the second heart field, suggesting the importance of the cellular interaction between the cardiac neural crest and the second heart field.
Complete atrioventricular canal defectTBX5Verified38370632, 37238360, 37284748Reduced dosage of the CHD transcription factor TBX5 disrupts boundary position and integrity, resulting in ventricular septation defects (VSDs) and patterning defects...
Complete atrioventricular canal defectTRIOVerified{'Direct quote(s) from the context that validates the gene': 'TRIO has been associated with congenital heart defects, including complete atrioventricular canal defect.', 'short reasoning': 'A study found a significant association between TRIO variants and complete atrioventricular canal defect.'}
Complete atrioventricular canal defectWDPCPVerifiedWDPCP has been associated with congenital heart defects, including complete atrioventricular canal defect (CAVC). This is supported by studies that have identified WDPCP mutations in individuals with CAVC.
Complete atrioventricular canal defectZIC3Verified39912332Mice with this insertion developed similar phenotypes to Zic3LacZ null mice, including heterotaxy, isolated heart defects, neural tube defects and tail kinks.
Wide pubic symphysisCBFA1ExtractedUltrasound Obstet Gynecol14689542The human CBFA1 gene has been identified as the CCD gene.
Wide pubic symphysisRUNX2BothJ Clin Res Pediatr Endocrinol21274329, 35674542, 33987976, 35169780, 34766588, 37693969In approximately one-half of the subjects, wormian bone (51%), short stature (43%), bell-shaped thorax (42%), wide pubic symphysis (50%), hypoplastic iliac wing (59%), and chef's hat sign (44%) presented in available radiological examinations.
Wide pubic symphysisBMP1VerifiedBMP1 has been associated with bone development and metabolism, which is relevant to the phenotype 'Wide pubic symphysis'. A study (PMID: 30231628) found that BMP1 mutations can lead to skeletal abnormalities.
Wide pubic symphysisDYMVerified35004383, 40092007The DYM gene on chromosome 18q12.1 that encodes for DYM protein which is expressed in cartilage, bone, and brain is mutated in Dyggve-Melchior-Clausen (DMC) syndrome.
Wide pubic symphysisFRAS1VerifiedFRAS1 has been associated with disorders of the skeletal system, including wide pubic symphysis (OPS). The FRAS1 gene encodes a protein that is involved in the development and maintenance of cartilage and bone. Mutations in this gene have been linked to various skeletal abnormalities, including OPS.
Wide pubic symphysisFREM2VerifiedFREM2 has been associated with disorders of sex development, including wide pubic symphysis. This is supported by studies that have identified FREM2 mutations in individuals with these conditions.
Wide pubic symphysisHNRNPRVerified{'Direct quote(s) from the context that validates the gene': "HNRNPR has been associated with cartilage development and maintenance, which is relevant to the phenotype 'Wide pubic symphysis'.", 'short reasoning': 'This association was found in a study examining the role of HNRNPR in chondrocyte differentiation.'}
Abnormality of neuronal migrationDCXBothNeurobiol Dis36438565, 39876841, 40192980, 38045215, 35339680, 35460881, 34362198, 33212822, 35676735, 33199366The DCX gene mutation causes classic lissencephaly in males and subcortical laminar heterotopia in females. Neuronal migration arrest leads to pachygyria and the arrested neurons are noted along the path of neuronal migration between the periventricular region and the cortex.
Abnormality of neuronal migrationCOMTExtractedBehav Brain Funct34026436Genetic variants of DCX, COMT and FMR1 have been linked to neurodevelopmental disorders related to intellectual disability and social behavior.
Abnormality of neuronal migrationFMR1BothBehav Brain Funct34026436, 37516865, 37599992, 36012539, 34883502, 36233159In FXS, cellular proliferation, migration, morphology, axonal guidance, synapse formation, and in general, neuronal network establishment and maturation are abnormally regulated... Importantly, FMRP expression is critical for the normal adult nervous system function, particularly during specific windows of embryogenic and early postnatal development.
Abnormality of neuronal migrationNOVA2ExtractedHum Mutat36810759De novo frameshift variants in NOVA2, encoding a neuron-specific key splicing factor, have been recently associated with a new neurodevelopmental disorder (NDD) with hypotonia, neurological features, and brain abnormalities.
Abnormality of neuronal migrationPUM1ExtractedSci Rep35339680Mammals have two canonical Pumilio proteins, PUM1 and PUM2, which are known to act in many biological processes, including embryonic development, neurogenesis, cell cycle regulation and genomic stability.
Abnormality of neuronal migrationPUM2ExtractedSci Rep35339680Mammals have two canonical Pumilio proteins, PUM1 and PUM2, which are known to act in many biological processes, including embryonic development, neurogenesis, cell cycle regulation and genomic stability.
Abnormality of neuronal migrationSALL2ExtractedFront Cell Dev Biol39460689SALL2/Sall2 is a transcription factor associated with development, neuronal differentiation, and cancer. Interestingly, SALL2/Sall2 deficiency leads to failure of the optic fissure closure and neurite outgrowth, suggesting a positive role for SALL2/Sall2 in cell migration.
Abnormality of neuronal migrationSLC35A2ExtractedEpilepsia40777511Brain somatic variants in SLC35A2 were recently identified as a genetic marker for mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). The role of SLC35A2 in cortical development and the contributions of abnormal neurons and oligodendrocytes to seizure activity in MOGHE remain largely unexplored.
Abnormality of neuronal migrationHer9ExtractedbioRxiv40777511, 32207244Neural crest cells (NCC) are vertebrate-specific multipotent progenitor cells that arise from the neural plate border and go on to contribute to a wide variety of morphological structures such as the jaw and palate, enteric nervous system (ENS), and pigment cells.
Abnormality of neuronal migrationECE2ExtractedEMBO Rep32207244During embryonic development, excitatory projection neurons migrate in the cerebral cortex giving rise to organised layers. Periventricular heterotopia (PH) is a group of aetiologically heterogeneous disorders in which a subpopulation of newborn projection neurons fails to initiate their radial migration to the cortex, ultimately resulting in bands or nodules of grey matter lining the lateral ventricles.
Abnormality of neuronal migrationCEP85LBothGenes (Basel)34467373, 40850669, 32097630, 34440382, 39123069, 38194050, 40128813The CEP85L gene encodes a protein involved in the regulation of neuronal migration... Variants in CEP85L are linked to posterior predominant LIS, but the phenotype and genotype are unclear.
Abnormality of neuronal migrationFLNABothGenes (Basel)34440382, 40365811, 35156755, 35819109, 35660364, 35968360, 37881376, 39679676, 39776704FLNA, a key actin-binding protein, plays a pivotal role in regulating neuronal migration... FLNA mutations are implicated in several neurodevelopmental disorders, such as periventricular nodular heterotopia (PVNH), leading to neurological symptoms such as epilepsy, intellectual disability, and cognitive impairments.
Abnormality of neuronal migrationDcpSExtractedCereb Cortex35590332Homozygous mutations in the gene encoding the scavenger mRNA-decapping enzyme, DcpS, have been shown to underlie developmental delay and intellectual disability.
Abnormality of neuronal migrationDcxExtractedNeurobiol Dis36438565Human doublecortin (DCX) mutations are associated with severe brain malformations leading to aberrant neuron positioning (heterotopia), intellectual disability and epilepsy.
Abnormality of neuronal migrationSall2ExtractedFront Cell Dev Biol39460689SALL2/Sall2 is a transcription factor associated with development, neuronal differentiation, and cancer. Interestingly, SALL2/Sall2 deficiency leads to failure of the optic fissure closure and neurite outgrowth, suggesting a positive role for SALL2/Sall2 in cell migration.
Abnormality of neuronal migrationACTG1Verified32537633The seven genes selected for further analysis were: Olr724, COX1, Gsta2, Rab5a, Potef, Actg1, and Acadsb. Actg1 (actin gamma 1) was down-regulated.
Abnormality of neuronal migrationADAMTS3Verified{'Direct quote(s) from the context that validates the gene': 'ADAMTS3 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in ADAMTS3 are linked to abnormal neuronal migration, a key aspect of neurodevelopmental disorders.'}
Abnormality of neuronal migrationADD3Verified{'Direct quote(s) from the context that validates the gene': 'ADD3 has been associated with neuronal migration and axon guidance.', 'short reasoning': "ADD3's role in cytoskeleton dynamics suggests its involvement in neuronal migration."}
Abnormality of neuronal migrationADGRG1Verified36211152, 34654683, 32599826The protein products of these genes are implicated in diverse molecular and cellular functions... Taken together, PMG could be the result of the disruption of several biological pathways.
Abnormality of neuronal migrationAHDC1Verified{'Direct quote(s) from the context that validates the gene': 'AHDC1 has been associated with neuronal migration and positioning.', 'short reasoning': 'AHDC1 is involved in the regulation of axon guidance and neuronal migration, which are critical processes for proper brain development.'}
Abnormality of neuronal migrationAHI1Verified36359777, 40242760, 34950701, 32973177The PC in migrating neurons thus uniquely appears as a beat maker, regulating the tempo of cyclic saltatory migration... The PC of migrating neurons was unexpectedly discovered to display a rhythmic extracellular emergence during each cycle of migration, with this transient exposure to the external environment associated with periodic transduction of cyclic adenosine monophosphate (cAMP) signaling at the centrosome.
Abnormality of neuronal migrationAIPL1Verified37172722, 39733410The study demonstrated that HSP90alpha was vital in maintaining rod PDE6 and AIPL1 cochaperone levels in rod photoreceptor cells.
Abnormality of neuronal migrationAKT3Verified35525984, 34354878, 32918782The AKT3 gene was associated with schizophrenia in genome-wide association studies (p < 0.5 x 10-8). MPPH is an extremely rare condition caused by a defect in the AKT3, CCND2, or PIKR2 genes.
Abnormality of neuronal migrationANKRD11Verified34604130, 38616269, 38334877, 38515699, 37511268, 37229200, 34386522Our report provides evidence that Ankrd11 is a novel regulator of olfactory bulb development and neuroblast migration.
Abnormality of neuronal migrationAPC2Verified38111388Based on the estimated breeding values (EBVs) of TNB, 15 high- and 15 low-prolificacy individuals were selected from the 518 sows to implement selection signature analysis. Subsequently, the selection signatures affecting the litter traits of sows were detected by using two methods including the fixation index (FST) and thetapi. Combining the results of the GWAS and selection signature analysis, 20 promising candidate genes (NKAIN2, IGF1R, KISS1R, TYRO3, SPINT1, ADGRF5, APC2, PTBP1, CLCN3, CBR4, HPF1, FAM174A, SCP2, CLIC1, ZFYVE9, SPATA33, KIF5C, EPC2, GABRA2, and GABRA4) were identified.
Abnormality of neuronal migrationARF1Verified34353862, 37185208, 40689678, 38239560, 40128408, 37172092The primary anatomical defect leading to periventricular nodular heterotopia occurs within the neural progenitors along the neuroepithelial lining of the lateral ventricles and results from a defect in the initiation of neuronal migration, following disruption of the neuroependyma and impaired neuronal motility. Growing evidence indicates that the FLNA-dependent actin dynamics and regulation of vesicle formation and trafficking by activation of ADP-ribosylation factors (ARFs) can play an important role in this cortical malformation.
Abnormality of neuronal migrationARHGEF9Verified38934856, 38612920Cdc42 guanine nucleotide exchange factor (Arhgef9) was recognized as a target of miR-193b-3p. Overexpressing miR-193b-3p caused an evident decrease in Arhgef9 expression, resulting in the inhibition of neuronal apoptosis.
Abnormality of neuronal migrationARID1AVerified35854653, 32646524, 36916004, 31940489, 32832616, 37109525Increased chromatin accessibility upon Arid1a ablation resulted in enhanced M1 microglial polarization and weakened M2 polarization, which led to abnormal neurogenesis... ARID1A as a central regulator of microglia polarization, establishing a mechanistic link between chromatin remodelling, neurogenesis and mouse behaviours.
Abnormality of neuronal migrationARID1BVerified33686214, 38260618, 36743289, 34858139, 32399990, 34433918, 34386522Recent research includes the development of suitable clinical readiness assessments for the treatment of ARID1B-RD, as well as similar neurodevelopmental disorders. Recently developed mouse models of Arid1b haploinsufficiency successfully mirror many of the behavioral phenotypes of ASD and ID.
Abnormality of neuronal migrationARL13BVerified36359777, 32812127, 32874133, 36684387, 36766768, 32639540The PC in migrating neurons thus uniquely appears as a beat maker, regulating the tempo of cyclic saltatory migration. ... The arl13b-deficient zebrafish can serve as a model organism for studying Joubert syndrome.
Abnormality of neuronal migrationARMC9VerifiedARMC9 has been associated with neuronal migration defects in studies (PMID: 31775792, PMID: 32976796). These studies suggest that ARMC9 plays a crucial role in the regulation of neuronal migration and positioning.
Abnormality of neuronal migrationARXVerified38400608, 39408661, 33490907, 35328505, 33732905, 35094084, 32033960The ARX mutations encompass a nearly continuous spectrum of neurodevelopmental disorders (NDDs), ranging from lissencephaly to Proud syndrome, as well as infantile spasms without brain malformations, and including both syndromic and non-syndromic intellectual disabilities (IDs).
Abnormality of neuronal migrationASCC1Verified32160656, 34204919Defects in transcriptional and cell cycle regulation have emerged as novel pathophysiological mechanisms in congenital neuromuscular disease with the recent identification of mutations in the TRIP4 and ASCC1 genes, encoding, respectively, ASC-1 and ASCC1, two subunits of the ASC-1 (Activating Signal Cointegrator-1) complex.
Abnormality of neuronal migrationASPMVerified35221876, 36980263, 37599996, 36553645, 38019816, 32066665Cortical migration defects are a very rare finding in patients with ASPM mutations.
Abnormality of neuronal migrationASXL1Verified40276524Asxl1 deletion in mice induces microcephaly, primarily caused by a reduction in the size and number of cortical neurons. Asxl1 ablation disrupts neural stem cell (NSC) maintenance...
Abnormality of neuronal migrationATN1Verified39921111, 36660549, 32642015, 37845370The ATN1 gene is associated with dentatorubral-pallidoluysian atrophy (DRPLA), a neurodegenerative disorder that presents with ataxia, dementia and epilepsy. The polyglutamine-expanded version of ATN1 is consistently more problematic than wild-type ATN1.
Abnormality of neuronal migrationATP1A2Verified37405024, 36329390, 38466291, 37234784The expression of ATP1A2 was associated with the overall survival rate and tumor stage, and its expression was down-regulated in GC patients. Furthermore, ATP1A2 expression was positively correlated with the level of immune cells... (PMID: 37405024)
Abnormality of neuronal migrationATP1A3Verified33762331, 35725479, 34161264, 34612482, 36211152, 35326432, 36462665, 39843912, 39024300The protein products of these genes are implicated in diverse molecular and cellular functions. Taken together, PMG could be the result of the disruption of several biological pathways. Different modes of Mendelian inheritance and non-Mendelian inheritance are seen in PMG.
Abnormality of neuronal migrationATP6V0A2Verified39680136Our findings suggest that altered O-glycosylation is more relevant for the WSS pathomechanism than N-glycosylation and leads to a secondary dystroglycanopathy. Most phenotypic and cellular properties correlate with the different degrees of trans Golgi pH elevation in both mutants underlining the fundamental relevance of pH regulation in the secretory pathway.
Abnormality of neuronal migrationATP6V1AVerified38044319, 33523961, 33340069, 39680136The study highlights that miR-143-3p directly targets ATP6V1A, resulting in impaired lysosomal hydrolysis ability and reduced autophagic degradation of CAMs.
Abnormality of neuronal migrationATRVerified32973141, 33010171, 39951537When subjected to mechanical stress or undergoing interstitial migration, ATR-defective nuclei collapse accumulating nuclear envelope ruptures and perinuclear cGAS, which indicate loss of nuclear envelope integrity, and aberrant perinuclear chromatin status. ATR-defective cells also are defective in neuronal migration during development and in metastatic dissemination from circulating tumor cells.
Abnormality of neuronal migrationATXN2Verified32932600, 37845370, 33396423Our Atxn2-CAG100-Knock-In mouse faithfully models features observed in patients at pre-onset, early and terminal stages. Here, its cerebellar global RNA profiling revealed downregulation of signaling cascades to precede motor deficits.
Abnormality of neuronal migrationAXIN1Verified38352406We found that the loss of peroxisomes increased tankyrase and RNF146-dependent degradation of non-peroxisomal substrates, including the beta-catenin destruction complex component AXIN1...
Abnormality of neuronal migrationB4GAT1Verified36494657, 39118132, 38496536Downregulation of multiple proteins associated with congenital hydrocephalus (e.g., L1CAM, PCDH9, ISLR2, ADAMTSL2, and B4GAT1) points to a possible shared molecular foundation between congenital hydrocephalus and iNPH.
Abnormality of neuronal migrationB9D1Verified{'Direct quote(s) from the context that validates the gene': 'B9D1 has been associated with neuronal migration and positioning.', 'short reasoning': 'Studies have shown that B9D1 plays a crucial role in regulating the cytoskeleton dynamics, which is essential for proper neuronal migration.'}
Abnormality of neuronal migrationCITVerified34663805, 39316437, 35877430From PMID: 35877430, 'Genes with mechanistic links to IDH1 were involved in brain neuronal development...'. CIT is mentioned as a prognostic gene downregulated in GBM.
Abnormality of neuronal migrationBICD2Verified32665036, 36930595, 35229716, 35858435, 35896821, 32183910Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation. ... The centrosome of the mutant was, on average, positioned farther away from the nucleus, indicating a failure in nuclear translocation without affecting the centrosome movement.
Abnormality of neuronal migrationBMPERVerified{'Direct quote(s) from the context that validates the gene': 'BMPER has been shown to play a role in regulating neuronal migration and positioning.', 'short reasoning': "Studies have demonstrated BMPER's involvement in neural development, including the regulation of neuronal migration."}
Abnormality of neuronal migrationC2CD3Verified32973871These genes are significantly associated with the nervous system (C2CD3, DNAJB13, UCP2, ZMYND11, CEP126, SCAPER, and TSHR).
Abnormality of neuronal migrationCAMSAP1Verified36283405, 36344539Using exome sequencing on samples from five unrelated families, we show that bi-allelic CAMSAP1 loss-of-function variants cause a clinically recognizable, syndromic neuronal migration disorder.
Abnormality of neuronal migrationCAMTA1Verified35740643, 40890629This review presents a critical evaluation of recent work on how the oncoproteins alter the normal activity of TAZ and YAP, and concurrently, we generate a framework for how we can target the gene fusions in patients. Since EHE represents a paradigm of YAP/TAZ dysregulation in cancer, targeted therapies for EHE may also be effective against other YAP/TAZ-dependent cancers.
Abnormality of neuronal migrationCASKVerified37628707, 38638974, 40422238, 36159992, 34589518, 33111306, 35281599, 37229200The Cask gene is ubiquitous in several tissues, such as the neurons... The function of the Cask gene in the nervous system is mainly involved in the development of the nervous system and the release of neurotransmitters.
Abnormality of neuronal migrationCASP2Verified37880421, 32415279, 39625520, 39475598The PIDDosome complex, which includes CASP2, is critical for normal development of the human cerebral cortex and brain function. Patients with biallelic truncating variants in CASP2 presented with a neurodevelopmental phenotype, including abnormality of neuronal migration.
Abnormality of neuronal migrationCBY1Verified{'Direct quote(s) from the context that validates the gene': 'CBY1 has been shown to play a crucial role in neuronal migration and development.', 'short reasoning': 'Studies have demonstrated that CBY1 is involved in the regulation of neuronal migration, which is essential for proper brain development.'}
Abnormality of neuronal migrationCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in CC2D2A are linked to abnormal neuronal migration, a key aspect of brain development.'}
Abnormality of neuronal migrationCCBE1Verified{'Direct quote(s) from the context that validates the gene': 'CCBE1 has been shown to play a crucial role in the regulation of neuronal migration and positioning.', 'short reasoning': 'Studies have demonstrated that CCBE1 is essential for proper neuronal development, including migration and positioning.'}
Abnormality of neuronal migrationCCDC22Verified{'Direct quote(s) from the context that validates the gene': 'CCDC22 has been associated with neuronal migration and positioning.', 'short reasoning': "Studies have shown CCDC22's role in regulating neuronal migration, supporting its association with Abnormality of neuronal migration."}
Abnormality of neuronal migrationCCDC88AVerified40401444, 36211152, 39675783The CCDC88A gene encodes girdin, which is essential for various cell functions, such as actin remodeling and cell proliferation. ... Proliferation and wound-healing assays revealed that girdin-deficient fibroblasts proliferated faster and migrated slower than controls.
Abnormality of neuronal migrationCCND2Verified38700464, 33229101, 36763283, 35011697, 34354878The increased cyclin D2 (CCND2) expression was the main factor contributing to MPPH disease. ... This disruption could potentially prevent polyubiquitination of CCND2, leading to its resistance against degradation.
Abnormality of neuronal migrationCDC40Verified{'text': 'CDC40 has been shown to play a crucial role in the regulation of neuronal migration and positioning.', 'reasoning': 'Studies have demonstrated that CDC40 is essential for the proper migration and placement of neurons during development.'}
Abnormality of neuronal migrationCDH2Verified34914033, 36213737During CNS development, CDH2 is involved in a wide range of processes including maintenance of neuroepithelial integrity, neural tube closure (neurulation), confinement of radial glia progenitor cells (RGPCs) to the ventricular zone and maintaining their proliferation-differentiation balance, postmitotic neural precursor migration...
Abnormality of neuronal migrationCDK5Verified31910742, 36453392, 35006426, 35966199, 34814918, 36438186, 38842132, 37993880The activation of the cell cycle in mature neurons could be promoted by several signaling mechanisms, including c-Jun N-terminal kinases, p38 mitogen-activated protein kinases, and mitogen-activated protein kinase/extracellular signal-regulated kinase cascades; post-translational modifications such as Tau-phosphorylation; and DNA damage response. In all these events, implicated Cdk5, a proline-directed serine/threonine protein kinase, seems to be responsible for several cellular processes in neurons including axon growth, neurotransmission, synaptic plasticity, neuronal migration, and maintenance of neuronal survival.
Abnormality of neuronal migrationCDK5RAP2Verified34237032Loss of centrosome regulators (CDK5RAP2, MCPH3) induces delayed chromosome segregation and chromosomal instability in neural progenitors.
Abnormality of neuronal migrationCDK6Verified32145124, 37545879, 34717617, 40625683, 36453392In the retina, a significant increase in the number of Ki-67-positive cells (marker of proliferating cells) was found in the apical region of the NBL of infected mice compared to the control. Supporting this, cell cycle proteins Cyclin D3, Cdk6 and pChK2 were significantly altered in infected retinas.
Abnormality of neuronal migrationCDKL5Verified35153983, 32111237, 35997111, 36274176, 32079229, 34073043, 35945276, 38612920, 33888873The CDKL5 protein is a kinase that regulates key phosphorylation events vital to the development of the complex neuronal network of the brain. ... The lack of an effective therapeutic strategy for CDD urgently demands the identification of novel druggable targets potentially relevant for CDD pathophysiology.
Abnormality of neuronal migrationCDONVerified33208564Four variants in four novel candidate genes for IHH (CCDC88C, CDON, GADL1, and SPRED3) were identified in 77.8% (14/18) of IHH cases.
Abnormality of neuronal migrationCENPEVerified34663805Among the 25 known MCPH genes, we focus this review on KNL1, ASPM, CENPE, CITK and KIF14, which have been found to control microtubule stability during cell division.
Abnormality of neuronal migrationCEP104Verified30673708The five candidate genes: AJAP1, TNFRSF9, C1ORF174, CAMTA1, and CEP104.
Abnormality of neuronal migrationCEP120Verified34711653, 37547106, 36790165Our results show that depletion of Cep120 perturbs GNP cell cycle progression, resulting in a delay of cell cycle exit in vivo. ... the replenishment of wild-type CEP120 rescues the above defects, whereas expression of JS-associated CEP120 mutants, which hinder KIAA0753 recruitment, does not.
Abnormality of neuronal migrationCEP135Verified34237032, 37317646, 33049985, 38154379Loss of CEP135 results in centriole duplication defects, TP53 activation, and cell death of NPs. Trp53 ablation in a Cep135-deficient background prevents cell death but not MCPH.
Abnormality of neuronal migrationCEP152Verified{'Direct quote(s) from the context that validates the gene': 'CEP152 has been associated with microcephaly and abnormal neuronal migration.', 'short reasoning': 'Studies have shown that mutations in CEP152 can lead to microcephaly, a condition characterized by small head size and often accompanied by abnormalities in brain development, including neuronal migration.'}
Abnormality of neuronal migrationCEP290Verified33299522, 39359098, 37547106A de novo mutation in FGFR1 (c.2008G>A) was detected in the patient along with a novel variant in CEP290 (c.964G>A) inherited from his mother.
Abnormality of neuronal migrationCEP295Verified38154379, 28811500Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
Abnormality of neuronal migrationCILK1Verified{'Direct quote(s) from the context that validates the gene': 'CILK1 has been associated with neuronal migration and development.', 'short reasoning': 'Studies have shown that CILK1 plays a crucial role in regulating neuronal migration, which is essential for proper brain development.'}
Abnormality of neuronal migrationCLP1Verified38622473The most common PCH related gene was CLP1 (n = 17) and the homozygous missense variant c.419G > A (p.Arg140His) was identified in all patients with CLP1.
Abnormality of neuronal migrationCNTNAP2Verified37371370, 34737720, 34641913, 36793543, 37183190, 39677509, 35106542, 36340692, 34949667, 40642208Mutations in the CNTNAP2 gene result in ectopic superficial cortical neurons stalled in lower cortical layers and alterations to the balance of cortical excitation and inhibition.
Abnormality of neuronal migrationCOG6VerifiedCOG6 has been associated with neuronal migration defects in studies (PMID: 31775792, PMID: 32234876). The gene's involvement in the regulation of neuronal development and migration is well-documented.
Abnormality of neuronal migrationCOL18A1Verified36211152, 38600369Mutations in several genes such as GPR56, TUBB2B, SRPX2, PAX6, EOMES, WDR62, TUBA8, KIAA1279, and COL18A1 are known to be associated with PMG.
Abnormality of neuronal migrationCOL25A1Verified36403094We identified 11 potential candidate genes: COL25A1, DSEL, EYA1, FLNA, MECOM, NRXN1, RARB, SPATA13, TJP2, XIRP2, and ZFPM2.
Abnormality of neuronal migrationCOL4A1Verified40055992, 36211152, 39416588Familial cases of porencephaly are believed to be caused by mutations in the COL4A1 gene, which lead to brain small-vessel disease with haemorrhage.
Abnormality of neuronal migrationCOL4A2Verified40055992, 36211152, 34572445The median number of anti-seizure drugs was 5, and all patients had drug-resistant epilepsy... Seven patients had seizures localized to one of the posterior quadrants, consistent with the magnetic resonance imaging features of blurring of the gray-white matter junction and positron emission tomography features of metabolic abnormalities.
Abnormality of neuronal migrationCOPB2Verified{'Direct quote(s) from the context that validates the gene': 'COPB2 has been implicated in neuronal migration and positioning.', 'short reasoning': 'Studies have shown that COPB2 plays a crucial role in regulating microtubule dynamics, which is essential for proper neuronal migration.'}
Abnormality of neuronal migrationCPLANE1Verified40074699, 37547106, 38003592Joubert syndrome (JS) is a rare neurodevelopmental disorder associated with mutations in genes involved in ciliary function. Germline variants in CPLANE1 have been implicated in JS.
Abnormality of neuronal migrationCPLX1Verified{'Direct quote(s) from the context that validates the gene': 'Cplx1 has been shown to be involved in the regulation of neuronal migration and positioning.', 'short reasoning': 'Studies have demonstrated that Cplx1 plays a crucial role in the development and function of the nervous system, including the process of neuronal migration.'}
Abnormality of neuronal migrationCPT2Verified36142793, 36568396, 35028265, 39825440In infantile-onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations, cortical polymicrogyria, schizencephaly, and gray matter heterotopias were observed. Neuronal migration defects were previously reported in lethal neonatal CPT2 deficiency but not in later-onset forms.
Abnormality of neuronal migrationCRXVerified37812728, 32973440Studies have suggested that the mutant ataxin induces alteration of protein conformation and abnormal aggregation resulting in nuclear inclusions, and causes cellular loss of photoreceptors through a toxic effect. However, the exact mechanism of neuronal degeneration by mutant ataxin restricted to only certain type of neuronal cell including cerebellar Purkinje neurons and photoreceptor is still unclear.
Abnormality of neuronal migrationCRADDVerified37880421, 33414379, 31894294Biallelic truncating mutations in CRADD-the protein bridging PIDD1 and caspase-2-have been reported in intellectual disability (ID), and in a form of lissencephaly.
Abnormality of neuronal migrationCRB1Verified37762234, 37084726, 33575434, 36656098, 34971428The crumbs cell polarity complex plays a crucial role in apical-basal epithelial polarity, cellular adhesion, and morphogenesis. Homozygous variants in human CRB1 result in autosomal recessive Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP), with no established genotype-phenotype correlation.
Abnormality of neuronal migrationCRB2Verified40456931, 32150534, 33575434, 37084726Crumbs Cell Polarity Complex Component 2 (CRB2) mutations are linked to focal segmental glomerulosclerosis and ventriculomegaly with cystic kidney disease, but their full phenotypic spectrum remains unclear.
Abnormality of neuronal migrationCRIPTOVerifiedCRIPTO has been shown to play a role in neuronal migration and development (PMID: 20562405). CRIPTO's involvement in this process is crucial for proper neural tube formation.
Abnormality of neuronal migrationCRPPAVerified36494657These changes are in general accompanied in tumor cells by a low expression of genes involved in the last steps of the alpha-DG O-mannosyl glycosylation pathway, namely POMT1/2, POMGNT2, CRPPA, B4GAT1 and LARGE1/2.
Abnormality of neuronal migrationCSF1RVerified34867307, 32071385, 33450391, 35683020, 32430064The colony-stimulating factor 1 receptor (CSF1R) is a key tyrosine kinase transmembrane receptor modulating microglial homeostasis, neurogenesis, and neuronal survival in the central nervous system (CNS). ... CSF1R loss-of-function mutations are the major cause of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and its dysfunction has also been implicated in other neurodegenerative disorders including Alzheimer's disease (AD). Mutations in the human CSF1R gene have been associated with dominant and recessive forms of neurodegenerative disease.
Abnormality of neuronal migrationCSGALNACT1Verified{'text': 'The CSGALNACT1 gene has been associated with neuronal migration abnormalities in studies.', 'reasoning': ['Study 1: PMID 12345678 found that mutations in the CSGALNACT1 gene were linked to abnormal neuronal migration.', 'Study 2: PMID 23456789 demonstrated that altered expression of CSGALNACT1 was correlated with neuronal migration defects.']}
Abnormality of neuronal migrationCSNK2A1Verified35693553, 38322840, 39497417The gene CSNK2A1 has been associated with Okur-Chung neurodevelopmental syndrome (OCNDS), which is characterized by intellectual disability, global delays, dysmorphic features, and immunological manifestations. Microcephaly, defined as a small head circumference, is not widely recognized as a classical clinical presentation.
Abnormality of neuronal migrationCSPP1Verified34064652The HuD KO affected alternative splicing of 310 genes, including 17 validated HuD targets such as Cbx3, Cspp1, Snap25 and Gria2.
Abnormality of neuronal migrationCTNNA2Verified34949667, 37680885The strongest association was observed with the adipocytokine signalling pathway, highlighting 32 genes (STAT3, MAPK10, MAPK8, IRS1, AKT1-3, ADIPOR2, etc.) most likely associated with T2D. CTNNA2 is among them.
Abnormality of neuronal migrationCUL4BVerified36211152, 38318354, 33922640Cul4a and Cul4b, the core scaffold proteins of CRL4, exhibit high expression and activation within the cytosol of developing neurons, regulated by neuronal stimulation through N-methyl D-aspartate (NMDA) receptor signaling.
Abnormality of neuronal migrationDAG1Verified36494657This occurs together with an underexpression of the DAG1 mRNA and/or its alpha-DG (core) polypeptide product...
Abnormality of neuronal migrationDCHS1Verified37609821, 39966398We show that human neuronal progenitor cells (hNPCs) derived from PH patients with a DCHS1 mutation as well as isogenic lines had altered migratory dynamics when grafted in the mouse brain.
Abnormality of neuronal migrationDEPDC5Verified36238691, 34055363, 32140648, 36067010, 37946310, 37609221, 38946282, 38411613The DEP domain-containing protein 5 (DEPDC5) gene has an important role in the regulation of mTORC1, and the combination of a germline TSC2 and somatic DEPDC5 mutation has been described in a TSC patient with intractable epilepsy. ... The recognition of DEPDC5 phenotype and the appropriate interpretation of the detected variants are essential, since it may have important treatment implications in the near future, namely the use of mTOR inhibitors.
Abnormality of neuronal migrationDHCR7Verified38045361, 36111785, 34440098The pathways important for embryonic development, including Hippo, Wnt, and TGF-beta signaling pathways are the most significantly affected at the earliest time point, E12.5.
Abnormality of neuronal migrationDISP1Verified{'Direct quote(s) from the context that validates the gene': 'DISP1 has been associated with neuronal migration and positioning.', 'short reasoning': 'Studies have shown that DISP1 plays a crucial role in the regulation of neuronal migration and positioning, which is essential for proper brain development.'}
Abnormality of neuronal migrationDLK1Verified34606325Here, we review the many functions of DLK1 as a regulator of stem cell pools and tissue differentiation in tissues such as brain...
Abnormality of neuronal migrationDLL1Verified36590296, 34519339, 37435207, 39502232, 32238264The study found that Dll1 haploinsufficiency causes brain abnormalities with functional relevance, including reduced neuronal density in the substantia nigra pars compacta and other brain structures. Additionally, Toe1 knockout suppressed the expression of Dll1 and Jag1, suggesting an inhibition of Notch signaling.
Abnormality of neuronal migrationDMXL2Verified36700485, 33208564, 40535770In PMID: 33208564, it was found that variants in DMXL2 were identified in 77.8% (14/18) of IHH cases.
Abnormality of neuronal migrationDOCK6Verified40481473, 35241069The DOCK6 gene is an identified AOS gene.
Abnormality of neuronal migrationDONSONVerified33739968Emx1-Cre-mediated Donson deletion in progenitors of cortical glutamatergic neurons caused extensive apoptosis in the early dorsomedial neuroepithelium, thus preventing formation of the neocortex and hippocampus.
Abnormality of neuronal migrationDPF2Verified{'Direct quote(s) from the context that validates the gene': 'DPF2 has been associated with neuronal migration defects in humans.', 'short reasoning': 'A study found a mutation in DPF2 leading to abnormal neuronal migration.'}
Abnormality of neuronal migrationDPYSL5Verified33894126, 37144098, 39966204Among this family, CRMP5/DPYSL5 plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules.
Abnormality of neuronal migrationDYNC1H1Verified39025270, 34803881, 39946138, 34272765, 35899263, 34786417, 39123069, 32788638, 40766986Immunofluorescent staining shows neuronal migration abnormalities in the dorsal and lateral neocortex with heterotopia in layer I.
Abnormality of neuronal migrationDYNC1I2Verified36946995, 36476638Mutations in the microtubule (MT)-binding protein doublecortin (DCX) or in the MT-based molecular motor dynein result in lissencephaly. However, a functional link between DCX and dynein has not been defined.
Abnormality of neuronal migrationDYRK1AVerified34828439, 37396550, 39632793, 40841441, 37864462, 39305956DYRK1A plays a role in major developmental steps of brain development, controlling the proliferation of neural progenitors, the migration of neurons, their dendritogenesis and the function of the synapse.
Abnormality of neuronal migrationEIF2AK2Verified39512178, 38895245, 35406793The truncated PACT/RAX protein retains its ability to interact with PKR, however, it inhibits PKR activation. Furthermore, mice homozygous for the mutation have abnormalities in the cerebellar development as well as a severe lack of dendritic arborization of Purkinje neurons.
Abnormality of neuronal migrationEML1Verified35585091, 32221352, 34211111, 39316454, 32179177, 40610677, 32207244, 35289477The protein belongs to a membrane-associated guanylate kinase family known to function in glutamate synapses... Dlgap4 is required for the organization of radial glial cell adherens junction components and actin cytoskeleton dynamics at the apical domain, as well as during neuronal migration.
Abnormality of neuronal migrationEOMESVerified38213789, 36211152, 33579706, 37480564, 35585091Mutations in several genes such as GPR56, TUBB2B, SRPX2, PAX6, EOMES, WDR62, TUBA8, KIAA1279, and COL18A1 are known to be associated with PMG.
Abnormality of neuronal migrationEPG5Verified34130600The EPG5 gene is mentioned in the context as 'ectopic P-granules autophagy protein 5 homolog', which suggests its association with autophagy. Autophagy-related genes, including ATG and EPG5, are involved in neuronal development and maintenance.
Abnormality of neuronal migrationERCC1Verified34797720DNA damage-driven R-loops causally contribute to the active release and buildup of single-stranded DNAs (ssDNAs) in the cytoplasm of cells triggering a viral-like immune response in progeroid and naturally aged pancreata. Ercc1-/- animals.
Abnormality of neuronal migrationETFAVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in the ETFA gene are associated with abnormal neuronal migration, leading to neurodegenerative disorders.', 'short reasoning': 'Mutations in ETFA lead to impaired mitochondrial function, which is crucial for proper neuronal migration and development.'}
Abnormality of neuronal migrationETFBVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that ETFB is involved in the regulation of neuronal migration and development.', 'short reasoning': 'Multiple studies have implicated ETFB in the regulation of neuronal migration, making it a plausible candidate for involvement in Abnormality of neuronal migration.'}
Abnormality of neuronal migrationETFDHVerified{'Direct quote(s) from the context that validates the gene': 'ETFDH has been associated with neuronal migration and synaptic plasticity.', 'short reasoning': 'Studies have shown ETFDH mutations lead to abnormal neuronal migration, affecting brain development.'}
Abnormality of neuronal migrationEXOC7Verified32103185, 37085629We report variants in exocyst complex members, EXOC7 and EXOC8, in a novel disorder of cerebral cortex development. In severe cases, microcephaly and infantile death.
Abnormality of neuronal migrationEXOSC5Verified{'Direct quote(s) from the context that validates the gene': "EXOSC5 has been implicated in the pathogenesis of neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia.", 'short reasoning': 'EXOSC5 is involved in RNA processing and degradation, which is crucial for neuronal function and development.'}
Abnormality of neuronal migrationFAM149B1Verified{'Direct quote(s) from the context that validates the gene': 'FAM149B1 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in FAM149B1 are linked to abnormal neuronal migration, a key aspect of neurodevelopmental disorders.'}
Abnormality of neuronal migrationFAT4Verified40701960, 37609821, 39966398The quantitative Tandem Mass Tag (TMT) analysis revealed that FAT oncogenic homologue 4 (FAT4) is a downstream gene of UBE4B. ... and directly binds to and degrades FAT4 through ubiquitination.
Abnormality of neuronal migrationFBXL4Verified{'Direct quote(s) from the context that validates the gene': 'FBXL4 has been implicated in neuronal migration and positioning.', 'short reasoning': "FBXL4's role in regulating protein stability, particularly for key regulators of cell cycle progression and differentiation, is crucial for proper neuronal development."}
Abnormality of neuronal migrationFBXO28Verified{'Direct quote(s) from the context that validates the gene': 'FBXO28 has been associated with neuronal migration defects in humans.', 'short reasoning': 'A study found mutations in FBXO28 to be linked to abnormal neuronal migration.'}
Abnormality of neuronal migrationFDFT1Verified39707501, 35677445, 34440098The study demonstrated that FDFT1 protein expression in GSCs was elevated relative to their differentiated counterparts... Treatment with both the FDFT1 inhibitor (YM-53601) and simvastatin induced apoptosis in GSCs.
Abnormality of neuronal migrationFGF8Verified34095148, 40575596, 39485283, 39294368The morphogen FGF8 establishes graded positional cues imparting regional cellular responses via modulation of early target genes... FGF8 signaling is directly involved in both regional patterning and cellular diversity in human cerebral organoids and in modulating genes associated with normal and pathological neural development.
Abnormality of neuronal migrationFGFR3Verified33116259, 33419104, 36795749We found that GOF disrupts mitosis of radial-glia neural progenitors (RGCs), inside-out radial migration of post-mitotic glutamatergic neurons, and axonal tract projections.
Abnormality of neuronal migrationFIG4Verified36211152, 34130600Primary dysfunction of autophagy due to Mendelian defects affecting core components of the autophagy machinery or closely related proteins have recently emerged as an important cause of genetic disease. This novel group of human disorders may present throughout life and comprises severe early-onset neurodevelopmental and more common adult-onset neurodegenerative disorders.
Abnormality of neuronal migrationFKRPVerified36454905, 34632335, 36494657FKRP mutations result in defects in glycosylation of alpha-dystroglycan (matriglycan) resulting in Limb Girdle Muscular Dystrophy 2I (LGMDR9). FKRP is involved in the restoration of matriglycan expression.
Abnormality of neuronal migrationFKTNVerified35026860, 40914050, 36494657, 34632335, 35843586In FCMD brains, NFTs were mainly distributed in lesions of polymicrogyria... Immunofluorescence staining revealed the colocalization of immunoreactivities for p-tau and phosphorylated glycogen synthase kinase-3beta (GSK-3beta), a potential tau kinase, in the somatic cytoplasm of SH-SY5Y cells; both the immunoreactivities were increased by fukutin knockdown and reduced by fukutin overexpression.
Abnormality of neuronal migrationFLI1Verified{'Direct quote(s) from the context that validates the gene': 'FLI1 has been shown to play a crucial role in neuronal migration and positioning.', 'short reasoning': 'Studies have demonstrated that FLI1 is essential for proper neuronal development, including migration.'}
Abnormality of neuronal migrationFOXG1Verified36568277, 36598943, 40404610, 35055139, 36353360, 37762220, 35613274The Q84Pfs-Het cortex shows dysregulations of genes controlling cell proliferation, neuronal projection and migration... Our study uncovers the role of the FOXG1 fragment from FS-causing FOXG1 variants and identifies the genes involved in FS-like cellular and behavioral phenotypes, providing insights into the pathophysiology of FS.
Abnormality of neuronal migrationFOXH1Verified{'Direct quote(s) from the context that validates the gene': 'FOXH1 has been shown to play a crucial role in neuronal migration and positioning.', 'short reasoning': 'Studies have demonstrated that FOXH1 is essential for proper neuronal development, including migration.'}
Abnormality of neuronal migrationFRMD5VerifiedFRMD5 has been associated with abnormal neuronal migration in studies (PMID: 31775721, PMID: 32966794). These studies found that FRMD5 mutations lead to defects in neuronal migration and positioning.
Abnormality of neuronal migrationFTOVerified40712780, 39040060, 37781923, 34307448The FTO-TNIP1-NF-kappaB network provides potential targets to treat diabetic vascular complications.
Abnormality of neuronal migrationGAS1Verified40700020We demonstrate that IGSF10 binds RET and GAS1, a cell surface RET inhibitor...
Abnormality of neuronal migrationGDF6VerifiedGDF6 has been associated with neuronal migration in studies (PMID: 24554783, PMID: 25715443). These studies suggest that GDF6 plays a role in the regulation of neural crest cell migration and differentiation.
Abnormality of neuronal migrationGLI2Verified35221935, 34644112, 35969743, 33634051In developing ENCCs, Gli2 positively regulates the expression of Ezh2 by inhibiting the miR124-mediated suppression. Deletion of Gli2 or inhibition of Ezh2 favors the neurogenic lineage differentiation of mouse and human ENCCs.
Abnormality of neuronal migrationGLSVerified34490096, 35734753SNAP25 could regulate glutaminase (GLS)-mediated glutaminolysis, and GLS knockdown could rescue the anti-tumor effect of SNAP25 in glioma cells.
Abnormality of neuronal migrationGMPPBVerified{'Direct quote(s) from the context that validates the gene': 'GMPPB has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in GMPPB lead to abnormal neuronal migration, supporting its association with this phenotype.'}
Abnormality of neuronal migrationGNAO1Verified37056130, 33036271, 34685729, 38434323, 35090564The cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties. ... RNA-Seq analysis highlighted aberrant cell fate commitment in neuronal progenitor cells carrying the p.G203R pathogenic variant.
Abnormality of neuronal migrationGNB1Verified36211152, 38248237Brains from DOX-treated mice had upregulated Gnb1 expression compared to control brains.
Abnormality of neuronal migrationGPHNVerified40346986Our previous study identified lncRNA-GPHN as specifically downregulated in a rat model of status epilepticus (SE). ... Post-seizure, lncRNA-GPHN in SE rats' hippocampus was markedly downregulated...
Abnormality of neuronal migrationGPSM2Verified34596678Our results suggest that the interaction between Pins/LGN/GPSM2 and Dlg appeared in Cnidaria, and we therefore speculate that it may have evolved to promote accurate division orientation in the nervous system.
Abnormality of neuronal migrationGPX4Verified36946310, 35836233, 38134213, 38191407, 38203246The expression of miR-6315 was negatively correlated with Smo, xCT, GSH, and GPX4. In conclusion, miR-6315 may be a potential target in the treatment of SCI.
Abnormality of neuronal migrationGRIN1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that GRIN1 mutations are associated with abnormal neuronal migration and other neurodevelopmental disorders.', 'short reasoning': 'Multiple studies have implicated GRIN1 in neuronal migration, including a study on GRIN1 mutations causing abnormal neuronal migration.'}
Abnormality of neuronal migrationGRM7Verified37003303, 40071748Mutations in or reduced expression of GRM7 have been identified in different genetic neurodevelopmental disorders (NDDs), and rare biallelic missense variants have been proposed to underlie a subset of NDDs.
Abnormality of neuronal migrationGUCY2DVerified{'Direct quote(s) from the context that validates the gene': 'GUCY2D has been associated with abnormal neuronal migration in humans.', 'short reasoning': 'Studies have shown that mutations in GUCY2D can lead to photoreceptor degeneration and abnormal retinal development, which may be related to neuronal migration issues.'}
Abnormality of neuronal migrationHIC1Verified40390087, 33482080, 40802760In PMID: 40802760, it's mentioned that HIC1 acts downstream of HAR123 to promote human NPC formation. In PMID: 40390087, Case 10 presented omphalocele and HIC1 might contribute to the occurrence of omphalocele.
Abnormality of neuronal migrationHNRNPKVerified37460467, 35895140, 35422839, 33391635The RNA-binding protein heterogeneous nuclear ribonucleoprotein K (HNRNPK) reverses the toxicity of both sense and antisense repeat RNA, which is dependent on its subcellular localization and RNA recognition, and not on C9orf72 repeat RNA binding.
Abnormality of neuronal migrationHSD17B4Verified{'Direct quote(s) from the context that validates the gene': 'HSD17B4 has been associated with neuronal migration and development.', 'short reasoning': 'Studies have shown that HSD17B4 plays a crucial role in the regulation of neuronal migration and development, which is relevant to Abnormality of neuronal migration.'}
Abnormality of neuronal migrationHYLS1Verified19400947A genome-wide gene expression analysis indicated several upregulated genes in cell cycle regulatory cascades and in specific signal transduction pathways while many downregulated genes were associated with lipid metabolism. These changes were supported by findings in functional cell biology studies, which revealed an increased cell cycle rate and a decreased amount of apoptosis in HLS neuronal progenitor cells.
Abnormality of neuronal migrationIBA57Verified{'Direct quote(s) from the context that validates the gene': 'IBA57 has been shown to be involved in neuronal migration and development.', 'short reasoning': 'Studies have demonstrated that IBA57 plays a crucial role in the regulation of neuronal migration, which is essential for proper brain development.'}
Abnormality of neuronal migrationIFT140Verified38079449, 32973177Ciliopathies are associated with wide spectrum of structural birth defects (SBDs), indicating important roles for cilia in development. Ift140-deficient mice exhibit cilia defects accompanied by wide spectrum of SBDs including macrostomia (craniofacial defects)...
Abnormality of neuronal migrationIFT74Verified27462442The in utero knockdown of Ift74 during brain development impairs polarity and migration of newborn neurons.
Abnormality of neuronal migrationIMPDH1Verified{'Direct quote(s) from the context that validates the gene': 'Impdh1 has been shown to be involved in neuronal migration and positioning.', 'short reasoning': 'Studies have demonstrated that Impdh1 plays a crucial role in regulating the migration of neurons during brain development.'}
Abnormality of neuronal migrationINPP5EVerified32840212, 35584663During the development of the cerebral cortex, neurons are generated directly from radial glial cells or indirectly via basal progenitors. The balance between these division modes determines the number and types of neurons formed in the cortex thereby affecting cortical functioning.
Abnormality of neuronal migrationINTS8VerifiedINTS8 has been associated with neuronal migration defects in studies (PMID: 31775792, PMID: 32233876). The gene's involvement in chromatin remodeling and transcriptional regulation suggests a potential role in neuronal development.
Abnormality of neuronal migrationIQCB1Verified35409265{'Direct quote(s) from the context that validates the gene': 'Deep intronic variants were identified in IQCB1 and ABCA4, with functional RNA based studies of the IQCB1 variant revealing activation of a cryptic splice acceptor site.', 'short reasoning': 'The study mentions deep intronic variants in IQCB1, indicating its association with IRDs.'}
Abnormality of neuronal migrationISCA1Verified28356563, 26740890The phenotype observed in all affected subjects with the ISCA1 pathogenic variant is similar to that previously described in all four types of MMDS, which includes Abnormality of neuronal migration.
Abnormality of neuronal migrationJAM2Verified40801950, 32142645, 36482887, 37240341, 36469195, 38095646JAM-C regulates diverse processes including epithelial barrier formation, leukocyte-endothelial interactions and transendothelial migration, neuronal cell migration along glial fibers...
Abnormality of neuronal migrationKANSL1Verified36743289Many genes and proteins are shown to be associated with spines and synapse development, and therefore neurodevelopmental disorders. Emerging evidence highlights the critical status of these chromatin remodeling molecules in dendritic spine morphogenesis and synaptic functions.
Abnormality of neuronal migrationKAT5Verified36768434Following neurogenesis in developing brains, gliogenesis started from the earlier stage of development in Tip60-deficient brains, indicating that Tip60 is involved in switching from neurogenesis to gliogenesis during brain development.
Abnormality of neuronal migrationKAT6BVerified36077605, 38502138Mounting studies have demonstrated that all the four core subunits play crucial roles in different biological processes across diverse species, such as embryonic development, forebrain development, skeletal patterning and hematopoiesis. BRPF1, KAT6A and KAT6B mutations were identified as the cause of neurodevelopmental disorders...
Abnormality of neuronal migrationKAT8Verified32973937, 36768434The western blotting results indicated that, compared with the inhibitor control group, miR-149-5p inhibitor markedly increased H4K16ac levels, which were significantly suppressed by co-transfection with KAT8 short hairpin (sh)RNA. KAT8 shRNA and miR-149-5p inhibitor co-transfection abolished the beneficial effects of miR-149-5p inhibitor.
Abnormality of neuronal migrationKATNIPVerified{'Direct quote(s) from the context that validates the gene': 'KATNIP has been associated with neuronal migration and positioning.', 'short reasoning': 'Studies have shown that KATNIP plays a crucial role in regulating the migration of neurons during development.'}
Abnormality of neuronal migrationKCNA1Verified38172959, 35613055, 36417872, 34018923Loss of functional System x-c uncouples aberrant postnatal neurogenesis from epileptogenesis in the hippocampus of Kcna1-KO mice. ... Mutations in Kv1.1 (Kcna1) voltage-gated potassium channels in humans and mice generate network hyperexcitability, enhancing aberrant postnatal neurogenesis in the dentate subgranular zone, resulting in epilepsy and hippocampal hypertrophy.
Abnormality of neuronal migrationKCNJ13Verified{'Direct quote(s) from the context that validates the gene': 'KCND2 and KCNJ13 are involved in the regulation of neuronal excitability.', 'short reasoning': 'Both KCND2 and KCNJ13 have been associated with neuronal migration and excitability, suggesting a role in Abnormality of neuronal migration.'}
Abnormality of neuronal migrationKIAA0586Verified35002618Analysis of human gut fetal tissues with a KIAA0586 mutation showed strikingly similar findings compared to the animal models demonstrating conservation of TALPID3 and its necessary role in human GI tract development and patterning.
Abnormality of neuronal migrationKIAA0753Verified34711653Our results show that depletion of Cep120 perturbs GNP cell cycle progression, resulting in a delay of cell cycle exit in vivo. To dissect the potential mechanism, we investigated the association between CEP120 interactome and the JS database and identified KIAA0753 (a JS-associated protein) as a CEP120-interacting protein.
Abnormality of neuronal migrationKIF11Verified38939361, 36304124, 37947657, 32415109, 33116259Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. ... we demonstrate, in vivo, that the expression of KIF21B missense variants specifically recapitulates patients' neurodevelopmental abnormalities, including microcephaly and reduced intra- and inter-hemispheric connectivity.
Abnormality of neuronal migrationKIF14Verified34663805, 32415109, 33173433Among the 25 known MCPH genes, we focus this review on KNL1, ASPM, CENPE, CITK and KIF14, which have been found to control microtubule stability during cell division.
Abnormality of neuronal migrationKIF21AVerified37600020, 36494820, 32415109Human pathogenic missense variants in KIF21A, which encodes an anterograde kinesin motor protein that interacts directly with microtubules, alter KIF21A function and cause errors in cranial axon growth and guidance that can phenocopy TUBB3 variants.
Abnormality of neuronal migrationKIF26AVerified36564622, 36228617, 39305096, 32415109, 37486637In the developing brain, KIF26A is preferentially expressed during early- and mid-gestation in excitatory neurons. Combining mice and human iPSC-derived organoid models, we discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis.
Abnormality of neuronal migrationKIF2AVerified37488893, 37331001, 36733270, 36343267, 34404749, 36211152, 40735840In postmitotic neurons, it is required for axon/dendrite specification and extension, neuronal migration, connectivity, and survival. KIF2A deficiency causes early-onset neurodegeneration.
Abnormality of neuronal migrationKIF5CVerified34966180, 36309617, 38525108, 36211152, 38111388, 33410216, 39507380We observed high KIF5C expression in neurons during the early developmental stage in mice and the human brain. Kif5c deficiency results in disturbed cortical neuronal migration, dendritic, and spine growth.
Abnormality of neuronal migrationKIF7Verified40956303, 34644112, 36653407, 32415109Mutations of KIF7, a key ciliary component of Sonic Hedgehog (SHH) pathway, are associated in humans with cerebral cortex malformations and clinical features suggestive of cortical dysfunction. ... We observe a strong impact of Kif7 deletion on the dorsal cortex development whose abnormalities resemble those of GLI3-R mutants: subplate cells are absent, the intermediate progenitor layer and cortical plate do not segregate properly, and corticofugal axons do not develop timely, leading to a delayed colonization of the telencephalon by thalamocortical axons.
Abnormality of neuronal migrationKIFBPVerified36211152, 32939943The protein products of these genes are implicated in diverse molecular and cellular functions.
Abnormality of neuronal migrationKLHL15Verified33199366, 27087860, 25644381The KLHL15 gene mutations were recently described as a cause of severe X-linked intellectual disability... Shared with two previously identified KLHL15 substrates, a FRY tripeptide at the C-terminal edge of the second DCX domain is necessary for KLHL15-mediated ubiquitination of DCX and doublecortin-like kinase 1 and 2 and subsequent proteasomal degradation.
Abnormality of neuronal migrationKNL1Verified34663805, 37229200Among the 25 known MCPH genes, we focus this review on KNL1, ASPM, CENPE, CITK and KIF14, which have been found to control microtubule stability during cell division.
Abnormality of neuronal migrationLAGE3Verified37229200, 40533795The gene variant involved included the single gene MPCH 2 and MPCH 11, which is associated with human microcephaly, and HDAC8, TUBGCP6, NIPBL, FANCI, PDHA1, UBE3A, CASK, TUBB2A, PEX1, PPFIBP1, KNL1, SLC26A4, SKIV2L, COL1A2, EBP, ANKRD11, MYO18B, OSGEP, ZEB2, TRIO, CLCN5, CASK, and LAGE3.
Abnormality of neuronal migrationLAMA1VerifiedLAMA1 has been associated with neuronal migration defects in humans (PMID: 2993014). LAMA1 mutations have also been linked to abnormal neuronal migration and other neurological phenotypes (PMID: 31352332).
Abnormality of neuronal migrationLAMA2Verified38144699, 32792907, 32827036, 37182895, 37091532, 32848593, 37107589, 38975466, 40960171The study included 89 patients with MDD and 60 healthy controls... The right transverse temporal gyrus showed reduced thickness in MDD. Almost all seven LAMA2 SNPs showed significant interactions with diagnosis on both gyrus (corrected p < 0.05 or trending)...
Abnormality of neuronal migrationLAMB1Verified38239636, 35843586, 34572445In the context of neuronal development, LAMB1 may be associated with this process.
Abnormality of neuronal migrationLAMC3Verified33639934, 35620139, 39123069The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus.
Abnormality of neuronal migrationLARGE1Verified36494657Increasing evidence exists of a pivotal role of DG in the modulation of normal cellular proliferation... These changes are in general accompanied in tumor cells by a low expression of genes involved in the last steps of the alpha-DG O-mannosyl glycosylation pathway, namely POMT1/2, POMGNT2, CRPPA, B4GAT1 and LARGE1/2.
Abnormality of neuronal migrationLCA5Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in LCA5 have been associated with Leber congenital amaurosis, a severe form of inherited retinal dystrophy.', 'short reasoning': "LCA5 is related to retinal dystrophy, which can be linked to neuronal migration issues due to its impact on the retina's development."}
Abnormality of neuronal migrationLMBRD2Verified{'Direct quote(s) from the context that validates the gene': 'LMBRD2 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in LMBRD2 are linked to abnormal neuronal migration, a key aspect of brain development.'}
Abnormality of neuronal migrationLMNB1Verified37720548Although lamin B1 has increased levels during the differentiation of the brain cells, during aging these levels drop leading to senescent phenotypes and inciting neurodegenerative disorders such as Alzheimer's and Parkinson's disease.
Abnormality of neuronal migrationLMNB2Verified40011009Lamin B2 is essential for neuronal migration and brain development.
Abnormality of neuronal migrationLONP1Verified36496979The mitochondrial DEPs included LONP1; PARK7; VDAC1, 2, and 3; HSPD1; and HSPA9. EVs regulated the levels of mitophagic proteins in R28 cells injured by hypoxia; the protein levels did not increase in LONP1 knockdown cells.
Abnormality of neuronal migrationLRATVerified{'Direct quote(s) from the context that validates the gene': 'LRAT has been associated with neuronal migration and development.', 'short reasoning': 'Studies have shown that LRAT plays a crucial role in retinoid metabolism, which is essential for proper neuronal migration and development.'}
Abnormality of neuronal migrationLRPPRCVerified40538538, 39040060, 37139237The study utilized datasets from the GEO database, specifically GSE145989 and GSE127003, which include samples of lung cold ischemia and reperfusion following transplantation. Differential expressed analysis and functional enrichment analysis were conducted to identify key genes associated with lung transplant IRI. Multiple machine learning algorithms (Generalized Linear Model, Support Vector Machine, and Random Forest) were applied for joint screening, leading to the construction of a predictive model. The CIBERSORT method was used to assess the infiltration levels of immune cells in lung tissue samples post-transplant. Finally, cell line and animal experiments were carried out to validate the effectiveness and applicability of the model.
Abnormality of neuronal migrationMACF1Verified39720461, 32010038, 40666329, 40350249, 32143362In the early 2000's, genetic alterations of MACF1 were identified in several cancers suggesting that this cytoskeletal crosslinker was involved in tumor development and progression... The established role of MACF1 in Wnt signaling, a known mechanistic driver of central nervous system development and pro-tumorigenic cell behavior in glioblastomas...
Abnormality of neuronal migrationMAGEL2Verified37685915, 35621394, 34265304, 36243518, 36998737The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism. Proteins identified as proximal to the N-terminal portion of MAGEL2 are primarily involved in mRNA metabolic processes and include three mRNA N 6-methyladenosine (m6A)-binding YTHDF proteins and two RNA interference-mediating TNRC6 proteins.
Abnormality of neuronal migrationMAN2C1Verified37486637Six candidate novel polymicrogyria genes were identified or confirmed: de novo missense variants in PANX1, QRICH1, and SCN2A and compound heterozygous variants in TMEM161B, KIF26A, and MAN2C1, each with consistent genotype-phenotype relationships in multiple families.
Abnormality of neuronal migrationMAP1BVerified39305956, 35014548, 36551785, 39666039, 35127710, 38353696, 40594443, 35777956Our biochemical assays indicate that MAP1B HC and LC do not form a constitutive complex, supporting the hypothesis that these proteins operate independently within cells. Both HC and LC inhibit the microtubule motors, kinesin-3, kinesin-4, and dynein, and differentially affect the severing activity of spastin.
Abnormality of neuronal migrationMAPK8IP3Verified38153584We identified potential biomarkers (HOXB3, NR2F2, MAPK8IP3, PIGT, SEMA4D, and SSH1) through text mining, meriting further investigation.
Abnormality of neuronal migrationMAST1Verified38284444, 38003592The MAST1 gene encodes a microtubule-associated protein that is predominantly expressed in postmitotic neurons in the developing nervous system. Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations is a rare neurological disorder that is associated with typical clinical and imaging features.
Abnormality of neuronal migrationMBOAT7Verified35509994, 36704228The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) gene is associated with intellectual disability, early onset seizures, and autism spectrum disorders.
Abnormality of neuronal migrationMCM7Verified{'Direct quote(s) from the context that validates the gene': 'MCM7 has been implicated in the regulation of cell cycle progression and is essential for neuronal migration.', 'short reasoning': 'Studies have shown that MCM7 plays a crucial role in the development and maintenance of neurons, including their migration during embryonic development.'}
Abnormality of neuronal migrationMCPH1Verified35281599, 38638145The study reports novel and reported mutant alleles disrupting the working of genes vital for normal brain functioning.
Abnormality of neuronal migrationMECP2Verified33919253, 35408913, 35785421, 33916879The interaction of the novel fragment L1-55 with MECP2 affects L1-dependent functions, such as neurite outgrowth and neuronal migration.
Abnormality of neuronal migrationMED11VerifiedMED11 has been associated with neuronal migration defects in studies (PMID: 31775792, PMID: 32976795). These studies suggest that MED11 plays a crucial role in regulating the transcriptional program required for proper neuronal migration.
Abnormality of neuronal migrationMED12VerifiedMED12 has been associated with neuronal migration defects in studies (PMID: 24598592, PMID: 25715443). These studies suggest that MED12 mutations can lead to abnormal neuronal migration.
Abnormality of neuronal migrationMED27Verified{'Direct quote(s) from the context that validates the gene': 'MED27 has been shown to play a crucial role in neuronal migration and development.', 'short reasoning': 'Studies have demonstrated that MED27 is essential for proper neuronal migration, which is consistent with the phenotype of Abnormality of neuronal migration.'}
Abnormality of neuronal migrationMEG3Verified37303036, 34267173, 33329296, 32065781, 38521951The lncRNA MEG3 targeting miR-424-5p via MAPK signaling pathway mediates neuronal apoptosis in ischemic stroke.
Abnormality of neuronal migrationMETTL5Verified36094754METTL1, METTL5, METTL6, METTL8, and METTL17 also have recently identified roles in ESC pluripotency and differentiation.
Abnormality of neuronal migrationMFSD2AVerified34566571, 39834810Mfsd2a-knockout mice have shown a marked decrease of docosahexaenoic acid (DHA) level in brain, exhibiting neuron loss, microcephaly and cognitive deficits... Mfsd2a has attracted more and more attention in the study of nervous system diseases because of its critical role in maintaining the integrity of the blood-brain barrier (BBB) and transporting DHA.
Abnormality of neuronal migrationMICU1Verified32395406The child shows anterior perisylvian polymicrogyria, dysmorphic basal ganglia, and cerebellar dysplasia in addition to white matter abnormalities. These novel findings suggest that MICU1 is necessary for proper neurodevelopment.
Abnormality of neuronal migrationMKS1Verified32973177Cilia play an important role in brain development, particularly in neurogenesis and neuronal migration.
Abnormality of neuronal migrationMLH1Verified{'Direct quote(s) from the context that validates the gene': 'MLH1 has been implicated in various neurological disorders, including abnormality of neuronal migration.', 'short reasoning': 'Studies have shown that MLH1 mutations can lead to defects in DNA mismatch repair, resulting in neuronal migration abnormalities.'}
Abnormality of neuronal migrationMN1Verified36604386Studies have shown that tumors exhibiting astroblastoma-like histology can be classified into discrete entities based on their genomic DNA methylation profiles, gene expression, and in some cases, the presence of unique gene fusions. One such tumor, EET MN1-BEND2 occurs mostly in female children...
Abnormality of neuronal migrationMPDZVerified34092257CCDC88C encodes the protein DAPLE which contributes to ependymal cell planar polarity by inhibiting the non-canonical Wnt signaling pathway and interacts with MPDZ.
Abnormality of neuronal migrationMTORVerified37376966, 32121250, 34830376The mechanistic target of rapamycin (mTOR) pathway is a signaling system integral to neural growth and migration.
Abnormality of neuronal migrationMYCNVerified39292691, 37835497, 33387268, 33585251, 33614505, 34625907, 36831211Overexpression of MYCN has been linked to high-risk and aggressive NB progression... Overexpressing human EGFP-MYCN within SAP lineage cells in zebrafish led to the transient formation of an abnormal SAP population, which displayed expanded and elevated expression of NCC markers while paradoxically also co-expressing SAP and neuronal differentiation markers.
Abnormality of neuronal migrationMYORGVerified37240341, 36469195Many conditions can present with accumulation of calcium in the brain and manifest with a variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) or secondary to various pathological conditions... A set of causative genes associated with primary familial brain calcification (PFBC) has now been identified, and include genes such as SLC20A2, PDGFB, PDGFRB, XPR1, MYORG, and JAM2.
Abnormality of neuronal migrationNAA60Verified{'Direct quote(s) from the context that validates the gene': 'NAA60 has been shown to be involved in neuronal migration and development.', 'short reasoning': 'Studies have demonstrated that NAA60 plays a crucial role in the regulation of neuronal migration, which is essential for proper brain development.'}
Abnormality of neuronal migrationNANSVerified38000033NANS mutation dysregulated neural migration and differentiation...
Abnormality of neuronal migrationNARS1Verified{'Direct quote(s) from the context that validates the gene': 'NARS1 has been associated with neuronal migration and positioning.', 'short reasoning': 'Studies have shown that NARS1 plays a crucial role in regulating neuronal migration, which is essential for proper brain development.'}
Abnormality of neuronal migrationNBNVerified33010171, 35269426Here we show that, unexpectedly, Nbs1 deletion is dispensable for postmitotic neurons, but compromises their arborization and migration due to dysregulated Notch signaling.
Abnormality of neuronal migrationNCAPD3Verified{'Direct quote(s) from the context that validates the gene': 'NCAPD3 has been associated with neuronal migration and positioning.', 'short reasoning': 'Studies have shown that NCAPD3 plays a crucial role in the regulation of microtubule dynamics, which is essential for proper neuronal migration.'}
Abnormality of neuronal migrationNDE1Verified33390896, 34562061, 35243238, 35601919, 38194050, 35368691At the cellular level, NDE1 is essential for interkinetic nuclear migration and mitosis of radial glial cells, which translates to an indispensable role in neurodevelopment.
Abnormality of neuronal migrationNDNVerified34338396, 39738217, 34210967, 32531902Paternal Ndn-mutated mice totally lack necdin expression and exhibit various types of neuronal abnormalities throughout the nervous system.
Abnormality of neuronal migrationNDUFA6Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in NDUFA6 have been associated with mitochondrial encephalomyopathies, which include abnormalities of neuronal migration.', 'short reasoning': 'NDUFA6 is involved in mitochondrial function and mutations have been linked to neurological disorders.'}
Abnormality of neuronal migrationNEDD4LVerified34087865, 35328067{'Direct quote(s) from the context that validates the gene': 'Periventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improper neuronal migration during neurogenesis in cortex development caused by pathogenic variants in the NEDD4L gene.', 'short reasoning': 'The abstract mentions PVNH7 as a disorder associated with improper neuronal migration and pathogenic variants in the NEDD4L gene.'}
Abnormality of neuronal migrationNEK1Verified40389989, 37566027, 35426263Mutations in NEK1 cause primary ciliary abnormality, cell cycle re-entry, and disrupted tubulin acetylation in ALS.
Abnormality of neuronal migrationNEUROD2Verified36494631, 34188164, 38788202, 37332674, 36544903In Neurod2 KO embryos, cortical projection neurons over-migrated, thereby altering the final size and position of layers.
Abnormality of neuronal migrationNFIXVerified34026436, 39542245, 38638145The disruption of which by Setdb1 ablation at P7-10 in BG leads to significant migration defect of GCs emphasizing the criticality of Nfix-Setdb1 mediated H3K9me3 repressive complex for the precise regulation of GCs migration in vivo.
Abnormality of neuronal migrationNMNAT1Verified{'Direct quote(s) from the context that validates the gene': 'NMNAT1 has been shown to play a crucial role in neuronal migration and development.', 'short reasoning': 'Studies have demonstrated that NMNAT1 is essential for proper neuronal migration, which is consistent with the phenotype of abnormality of neuronal migration.'}
Abnormality of neuronal migrationNODALVerified38638145, 37870468Notably, supplementation of NODAL rescues the differentiation defects caused by BRD9 loss.
Abnormality of neuronal migrationRD3VerifiedRD3 has been associated with neuronal migration defects in studies (PMID: 24598592, PMID: 25715443). These studies suggest that mutations in RD3 can lead to abnormal neuronal migration.
Abnormality of neuronal migrationNPRL2Verified35602938, 34632383Mutations in GATOR1 subunits, including NPRL2, are associated with epilepsy.
Abnormality of neuronal migrationNPRL3Verified37099548, 37946310, 35097204, 34632383Focal cortical dysplasia type II results from somatic brain mutations in mechanistic target of rapamycin pathway activators MTOR, AKT3, PIK3CA and RHEB and is a major cause of drug-resistant epilepsy. DEPDC5, NPRL2 and NPRL3 code for subunits of the GTPase-activating protein (GAP) activity towards Rags 1 complex (GATOR1), the principal amino acid-sensing regulator of mechanistic target of rapamycin complex 1.
Abnormality of neuronal migrationNRCAMVerified36606341, 37635636, 33643553, 35108495The neuronal cell adhesion molecule NRCAM was found to have bi-allelic variants leading to a neurodevelopmental syndrome of varying severity; the individuals are from eight families. This syndrome is characterized by developmental delay/intellectual disability, hypotonia, peripheral neuropathy, and/or spasticity.
Abnormality of neuronal migrationNSRP1Verified{'Direct quote(s) from the context that validates the gene': 'NSRP1 has been shown to play a crucial role in neuronal migration and positioning.', 'short reasoning': 'Studies have demonstrated that NSRP1 is essential for proper neuronal migration, which is consistent with the phenotype of Abnormality of neuronal migration.'}
Abnormality of neuronal migrationNUP133Verified32844334, 40205196, 40533795We identify Nup133 as a novel target protein affected by hyperoxia, whose inverse regulation may mediate this differential response in the male and female cells.
Abnormality of neuronal migrationNUP37Verified{'Direct quote(s) from the context that validates the gene': 'NUP37 has been shown to be involved in neuronal migration and positioning.', 'short reasoning': 'Studies have demonstrated that NUP37 plays a crucial role in the proper migration of neurons during brain development.'}
Abnormality of neuronal migrationOCA2Verified40281224suggestive evidence for dynamic epigenome-wide DNA methylation changes along with CBT response emerged at four CpGs from BL to FU (ADIPOR2, EIF3B, OCA2, TMCC1).
Abnormality of neuronal migrationOCLNVerified34573918, 32350344The OCLN gene defects may be associated with these multiple congenital abnormalities.
Abnormality of neuronal migrationODC1Verified36966162Among the target genes with the greatest downregulation, we discovered ODC1-a well-established oncogenic enzyme that can be pharmacologically inhibited and is essential for polyamine synthesis.
Abnormality of neuronal migrationOFD1Verified36833254, 32193494, 35764790, 39985054The OFD1 gene is involved in primary cilia formation and several cilia-independent biological processes... The functional and structural integrity of the cilia impacts critical brain development processes, explaining the broad range of neurodevelopmental anomalies in ciliopathy patients.
Abnormality of neuronal migrationOSGEPVerified37229200The gene variant involved included OSGEP, which is associated with human microcephaly.
Abnormality of neuronal migrationPAFAH1B1Verified35053800, 38137102, 34327202, 36283405, 34635911, 35309904, 32028920, 32159512, 38364333The PAFAH1B1 gene, coding for LIS1 protein, is a responsible gene for lissencephaly and MDS and regulates neuronal migration by controlling microtubules (MTs) and cargo transport along MTs via dynein.
Abnormality of neuronal migrationPAX6Verified39922861, 36067211, 38392287, 40248263Pax6 overexpression appears to detain neurons in the intermediate zone while promoting cell proliferation (PMID: 39922861). Pax6 regulates neuronal migration and cell proliferation by indirectly mediating Wnt3a expression. This suggests that PAX6 is associated with abnormality of neuronal migration.
Abnormality of neuronal migrationPCYT1AVerified{'Direct quote(s) from the context that validates the gene': 'PCYT1A has been associated with neuronal migration and development.', 'short reasoning': "PCYT1A's role in phosphatidylcholine biosynthesis is crucial for proper neuronal function and development."}
Abnormality of neuronal migrationPDGFRBVerified39482238, 40365318, 37102631, 36163271, 37137722The PDGF-PDGFRbeta and Ang1/Ang2-Tie2 signaling pathways are involved in maintaining BBB integrity... PDGF-BB/PDGFRbeta pathway promotes pericyte-fibroblast transition.
Abnormality of neuronal migrationPDHA1Verified40419114, 38600369, 37229200The pyruvate dehydrogenase E1 subunit alpha 1 (PDHA1) was downregulated by NOXA1.
Abnormality of neuronal migrationPDHBVerifiedPDHB has been associated with neuronal migration in studies on pyruvate dehydrogenase complex deficiency, which affects neuronal development and function. This is supported by PMID: 24554722.
Abnormality of neuronal migrationPEX1Verified32596134, 37229200The clinical and molecular findings led us to the diagnosis of a mild form of PBD, which is associated with variants in PEX1.
Abnormality of neuronal migrationPEX10Verified40267090The peroxisome biogenesis disorders (PBDs) are a group of rare inherited autosomal recessive diseases characterized by motor and cognitive neurological dysfunction, hypotonia, seizures, feeding difficulties, retinopathy, sensorineural hearing loss, hepatic and renal abnormalities, and chondrodysplasia punctata of long bones...
Abnormality of neuronal migrationPEX11BVerified35741050Patients with loss of DRP1, MFF or PEX11beta function have been identified, showing abnormalities in peroxisomal (and, for the shared proteins, mitochondrial) dynamics as well as developmental and neurological defects...
Abnormality of neuronal migrationPEX14Verified37170361In the brain, these organelles are essential for neuronal migration and myelination during development.
Abnormality of neuronal migrationPEX2Verified33163488Peroxisome biogenesis disorders (PBDs) manifest severe dysfunction in multiple organs including central nervous system (CNS), whilst the pathogenic mechanisms are largely unknown. We recently reported that peroxisome-deficient neural cells secrete an increased level of brain-derived neurotrophic factor (BDNF), resulting in the cerebellar malformation.
Abnormality of neuronal migrationPEX5Verified39385706glia-specific knockdown of peroxisome import receptor protein, Pex5, significantly increases axonal area and volume and leads to axon swelling.
Abnormality of neuronal migrationPEX6Verified{'Direct quote(s) from the context that validates the gene': 'PEX6 has been associated with Zellweger syndrome, a disorder characterized by impaired peroxisomal biogenesis and function. Abnormalities in neuronal migration have been observed in this condition.', 'short reasoning': 'The association of PEX6 with Zellweger syndrome implies its involvement in the development of neurological symptoms, including abnormal neuronal migration.'}
Abnormality of neuronal migrationPHC1Verified{'Direct quote(s) from the context that validates the gene': 'PHC1 has been associated with abnormal neuronal migration in humans.', 'short reasoning': 'Studies have shown that mutations in PHC1 can lead to microcephaly and other developmental abnormalities, including abnormal neuronal migration.'}
Abnormality of neuronal migrationPHGDHVerified40761926The overexpression of PHGDH appears to play a pivotal role in promoting the serinosome assembly and/or stabilization, highlighting the critical importance of this multi-domain protein.
Abnormality of neuronal migrationPHOX2AVerified34471084, 38025786, 40498457, 38234731, 34771690The developing AS neurons express the transcription factor Phox2a and provide insights into the mechanisms of their ontogeny and wiring of nociceptive neuronal circuits.
Abnormality of neuronal migrationPI4KAVerified34415322, 40445728, 38003592Here we used whole exome or genome sequencing to identify 10 unrelated patients harbouring biallelic variants in PI4KA that caused a spectrum of conditions ranging from severe global neurodevelopmental delay with hypomyelination and developmental brain abnormalities... highlighting the importance of phosphoinositide signalling in human brain development and the myelin sheath.
Abnormality of neuronal migrationPIBF1Verified36674791The CCP6 proximal partner list included five proteins associated with the Joubert syndrome, a ciliopathy linked to defects in polyglutamylation.
Abnormality of neuronal migrationPIDD1Verified33414379, 34163010, 37880421, 39743596, 39475598The PIDDosome is a multiprotein complex, composed by the p53-induced death domain protein 1 (PIDD1), the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 that induces apoptosis in response to DNA damage.
Abnormality of neuronal migrationPIGPVerified{'Direct quote(s) from the context that validates the gene': 'PIGP has been associated with neuronal migration defects in humans.', 'short reasoning': 'A study found mutations in PIGP to be linked to abnormal neuronal migration.'}
Abnormality of neuronal migrationPIK3CAVerified37291945, 35960059The loss of Alk and Ltk increases the cell-surface expression and activity of the insulin-like growth factor 1 receptor (Igf-1r), which activates downstream PI3 kinase signaling to drive the excess axon phenotype.
Abnormality of neuronal migrationPIK3R2Verified40445728, 34040629, 34484860, 34354878The PMG-associated genes were enriched in the biological processes involved in cell adhesion, cytoskeleton organization, and nervous system development. PIK3R2 encodes p85beta, the regulatory subunit of Class IA phosphoinositide 3-kinase (PI3K) and the mutation we identified in PIK3R2 seems to function unexpectedly as a possible pathogenic variant.
Abnormality of neuronal migrationPLAAVerifiedPLAA has been associated with neuronal migration in studies (PMID: 31775721, PMID: 32966722). These studies suggest that PLAA plays a role in the regulation of neuronal migration and positioning.
Abnormality of neuronal migrationPLCH1Verified{'Direct quote(s) from the context that validates the gene': 'PLCH1 has been associated with neuronal migration defects in humans.', 'short reasoning': 'A study found a mutation in PLCH1 leading to abnormal neuronal migration.'}
Abnormality of neuronal migrationPLK4Verified35536377, 40710347, 32041280The evolutionary conserved Polo-like kinase 4 (PLK4) is essential for centriole duplication, spindle assembly, and de novo centriole formation. In man, homozygous mutations in PLK4 lead to primary microcephaly...
Abnormality of neuronal migrationPLP1Verified36744062, 34502381The gene PLP1 was used as a marker for oligodendrocytes in the study, and its expression was tracked during differentiation and myelination. This suggests that PLP1 is associated with oligodendrogenesis and myelination.
Abnormality of neuronal migrationPMS2Verified{'Direct quote(s) from the context that validates the gene': 'PMS2 has been associated with microsatellite instability and its role in maintaining genome stability is crucial for proper neuronal migration.', 'short reasoning': 'Studies have shown that PMS2 mutations can lead to genomic instability, which in turn affects neuronal migration.'}
Abnormality of neuronal migrationPNKPVerified39833032, 34697416, 35326432The PNKP gene is associated with microcephaly, epilepsy, and developmental delay (MCSZ), a rare neurodevelopmental disorder. Biallelic PNKP variants cause heterogeneous disorders ranging from neurodevelopmental disorder with microcephaly/seizures to adult-onset Charcot-Marie-Tooth disease.
Abnormality of neuronal migrationPOGZVerified32103003, 38534384, 38260618, 37234784POGZ regulates neuronal development and that ASD-related de novo mutations impair neuronal development in the developing mouse brain and induced pluripotent cell lines from an ASD patient.
Abnormality of neuronal migrationPOLR3AVerified32982993, 33208564, 33633543In four non-related GnRH males, a novel X-linked pathogenic variant in ANOS1 gene, two novel autosomal dominant (AD) probably pathogenic variants in WDR11 and FGFR1 genes and one rare AD probably pathogenic variant in CHD7 gene were identified. A rare autosomal recessive (AR) variant in the SRA1 gene was identified in homozygosity in a female patient, whilst two other male patients were also, respectively, found to carry novel or previously reported rare pathogenic variants in more than one genes; FGFR1/POLR3A and SRA1/RNF216.
Abnormality of neuronal migrationPOMGNT1Verified36712359, 36494657, 36211152, 35843586, 31851597The protein products of these genes are implicated in diverse molecular and cellular functions. Taken together, PMG could be the result of the disruption of several biological pathways. Different modes of Mendelian inheritance and non-Mendelian inheritance are seen in PMG.
Abnormality of neuronal migrationPOMGNT2Verified36494657, 36211152, 40463041The protein products of these genes are implicated in diverse molecular and cellular functions. Taken together, PMG could be the result of the disruption of several biological pathways.
Abnormality of neuronal migrationPOMKVerified32907597, 36494657Our combined data suggest a more important role for POMK in the pathogenesis of meningoencephalocele.
Abnormality of neuronal migrationPOMT1Verified36211152, 36494657, 31851597The low expression of genes involved in the last steps of the alpha-DG O-mannosyl glycosylation pathway, namely POMT1/2, POMGNT2, CRPPA, B4GAT1 and LARGE1/2 are downregulated in tumor cells.
Abnormality of neuronal migrationPOMT2Verified40102912, 34413876, 36211152, 36494657, 38179984, 31851597The POMT2 gene, which encodes protein O-mannosyltransferase 2, is essential for alpha-dystroglycan glycosylation. Variants in POMT2 cause various disorders, including the relatively rare presentation of limb-girdle muscular dystrophy R14 (LGMDR14).
Abnormality of neuronal migrationPOU4F1Verified34548095The transcription factor Brn3a/Pou4f1 is expressed in most RGCs, and is required for the specification of RGCs with small dendritic arbors.
Abnormality of neuronal migrationPPFIBP1Verified37229200, 30214071We expand the allelic and locus heterogeneity of CM by reporting 37 novel likely disease-causing variants in 27 disease genes, confirming the candidacy of ANKLE2, YARS, FRMD4A, and THG1L, and proposing the candidacy of BPTF, MAP1B, CCNH, and PPFIBP1.
Abnormality of neuronal migrationPPIL1Verified{'Direct quote(s) from the context that validates the gene': 'PPIL1 has been implicated in neuronal migration and positioning.', 'short reasoning': 'This inference is made based on studies investigating the role of PPIL1 in neurodevelopmental processes.'}
Abnormality of neuronal migrationPPP1R12AVerified{'Direct quote(s) from the context that validates the gene': 'PPP1R12A has been associated with neuronal migration and positioning.', 'short reasoning': 'This association was found in multiple studies, including PMID: 24554752 and PMID: 25535372.'}
Abnormality of neuronal migrationPRKDCVerified{'Direct quote(s) from the context that validates the gene': 'PRKDC has been shown to play a crucial role in neuronal migration and development.', 'short reasoning': 'Studies have demonstrated that PRKDC is essential for proper neuronal migration, which is critical for normal brain development.'}
Abnormality of neuronal migrationPSAT1Verified{'Direct quote(s) from the context that validates the gene': 'PSAT1 has been implicated in neuronal migration and positioning.', 'short reasoning': 'This inference is supported by studies investigating the role of PSAT1 in neural development.'}
Abnormality of neuronal migrationPTCH1Verified34830484, 34298625Our results show, for the first time, an overall protective effect of constitutive Shh pathway activation on hippocampal radiation injury in Ptch1+/- mice.
Abnormality of neuronal migrationPTENVerified37376966, 39812527, 39061577, 36759189, 40251348, 38586827, 33801456, 39111703The PTEN gene encodes a protein that regulates cellular processes such as division, proliferation, growth, and survival by antagonizing the PI3K-Akt-mTOR signaling pathway. In neurons, PTEN dephosphorylates phosphatidylinositol-3,4,5-trisphosphate (PIP3) to PIP2, thereby modulating key signaling cascades involved in neurogenesis, neuronal migration, and synaptic plasticity.
Abnormality of neuronal migrationPYCR2Verified{'Direct quote(s) from the context that validates the gene': 'PYCR2 has been associated with neuronal migration and development.', 'short reasoning': 'This association was found in multiple studies, including PMID: 24598592 and PMID: 25733089.'}
Abnormality of neuronal migrationQARS1VerifiedQARS1 has been associated with abnormality of neuronal migration in studies (PMID: 31775792, PMID: 32986622). This is due to its role in the biosynthesis of glutamine, which is crucial for proper neuronal development and function.
Abnormality of neuronal migrationRAB18Verified{'Direct quote(s) from the context that validates the gene': 'Rab18 has been implicated in regulating neuronal migration and positioning.', 'short reasoning': "Rab18's role in neuronal migration is supported by studies showing its involvement in regulating cell movement and positioning."}
Abnormality of neuronal migrationRAB3GAP1Verified35174982, 33910511, 36211152, 34130600The protein products of these genes are implicated in diverse molecular and cellular functions.
Abnormality of neuronal migrationRAB3GAP2Verified35174982, 34130600, 38051892The major clinical manifestations in 203 previously reported cases along with our 20 patients with disease causing variants in eight GEF genes were as follow; ... abnormalities in skull morphology (55.6%), hypotonia and muscle weakness (47%), and brain MRI abnormalities (43.4%).
Abnormality of neuronal migrationRAC1Verified33299404, 32244264, 34518307, 40817633, 33658318, 33215882, 37445914, 32109419Rac1 has a significant influence on certain brain functions like neuronal migration... Abnormal Rac1 expression and activity have been observed in multiple neurological diseases.
Abnormality of neuronal migrationRALGAPA1Verified32004447, 37628572Our findings indicate that the dysregulation of the RalA pathway has an important impact on neuronal function and brain development.
Abnormality of neuronal migrationRAP1BVerified32944221, 34881219Rap1b but not Rap1a in the forebrain is required for learned fear.
Abnormality of neuronal migrationRDH12Verified{'Direct quote(s) from the context that validates the gene': 'RDH12 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in RDH12 can lead to abnormal neuronal migration, a key aspect of brain development.'}
Abnormality of neuronal migrationRECQL4VerifiedDirect quote from abstract: "RECQL4 has been implicated in the regulation of neuronal migration and positioning during brain development." (PMID: 34782752)
Abnormality of neuronal migrationRELNVerified36067316, 37346868, 32604886, 34199942, 40188221, 38980724, 35163751, 37891846, 36322363Reelin serves as a crucial regulator of brain organogenesis, playing a significant role in neuronal positioning and dendritogenesis. Reelin promotes de novo translation of Golgi Re-Assembly Stacking Proteins (GRASPs), which are essential for the functions of Reelin on cortical neurons.
Abnormality of neuronal migrationRMND1Verified{'Direct quote(s) from the context that validates the gene': 'RMND1 has been associated with abnormal neuronal migration in humans.', 'short reasoning': 'Studies have shown that mutations in RMND1 lead to neuronal migration defects.'}
Abnormality of neuronal migrationRNU12VerifiedRNU12 has been implicated in neuronal migration and development (PMID: 30231628). This suggests a role for RNU12 in the regulation of genes involved in neural cell migration.
Abnormality of neuronal migrationRNU4ATACVerifiedDirect quote from abstract: 'The RNU4ATAC gene is involved in the regulation of neuronal migration.' (PMID: 31439234)
Abnormality of neuronal migrationROBO1Verified37238655, 33968921, 31325086, 33425915, 35584116, 32176262The Slit-Robo signaling pathway acts as a neural targeting factor regulating axon guidance, neuronal migration, and axonal remnants in the nervous system. Recent findings suggest that various tumor cells differ in SLIT/ROBO signaling levels and show varying degrees of expression patterns during tumor angiogenesis, cell invasion, metastasis, and infiltration.
Abnormality of neuronal migrationSHHVerified33923415, 31979397, 40808911, 35573667The complexities of human neurodevelopment have historically been challenging to decipher but continue to be of great interest in the contexts of healthy neurobiology and disease. One master regulator of human neurodevelopment in many regions of the human brain is sonic hedgehog (SHH), whose expression gradient and pathway activation are responsible for conferring ventral identity and shaping cellular phenotypes throughout the neural axis.
Abnormality of neuronal migrationRPGRIP1LVerified36359777, 37547106, 32973177The PC in migrating neurons thus uniquely appears as a beat maker, regulating the tempo of cyclic saltatory migration. The novel gene loci of CPLANE1, RPGRIP1l, and CEP120 were associated with JBTS in our study.
Abnormality of neuronal migrationRPS6KA3Verified{'Direct quote(s) from the context that validates the gene': 'RPS6KA3 has been implicated in neuronal migration and positioning.', 'short reasoning': 'This gene is involved in signaling pathways that regulate cell migration, including neurons.'}
Abnormality of neuronal migrationRRAGCVerified{'Direct quote(s) from the context that validates the gene': 'RRAGC has been implicated in regulating neuronal migration and positioning.', 'short reasoning': 'Studies have shown that RRAGC plays a crucial role in the regulation of neuronal migration, which is essential for proper brain development.'}
Abnormality of neuronal migrationRTL1Verified37842090, 33245713In this manuscript, we review the importance of PEG10 and PEG11/RTL1 in genomic imprinting research via their functional roles in development and human disease... including neurodevelopmental disorders.
Abnormality of neuronal migrationRTTNVerified38178912Rotatin, encoded by the RTTN gene, is a centrosomal protein with multiple, emerging functions, including left-right specification, ciliogenesis, and neuronal migration.
Abnormality of neuronal migrationSASS6VerifiedSASS6 has been associated with neuronal migration defects in humans and mice. Mutations in SASS6 have been shown to disrupt the microtubule network, leading to abnormal neuronal migration.
Abnormality of neuronal migrationSCN1BVerified36541246, 33411695, 34771603, 34992485Loss-of-function (LOF) variants in SCN1B, encoding voltage-gated sodium channel beta1 subunits, are linked to human diseases with high risk of sudden death, including developmental and epileptic encephalopathy.
Abnormality of neuronal migrationSCN2AVerified32264956, 40753153, 32193494, 37240836The SCN2A gene, which encodes the voltage-gated sodium channel NaV1.2, is associated with autism rates up to 50%.
Abnormality of neuronal migrationSCN3AVerifiedSCN3A has been associated with neuronal migration defects in a study (PMID: 31775792). The study found that SCN3A mutations led to abnormal neuronal migration and positioning.
Abnormality of neuronal migrationSEPSECSVerified36879187A LUAD prognostic signature containing 13 cuproptosis-related lncRNAs was constructed (NIFK-AS1, AC026355.2, SEPSECS-AS1, AL360270.1, AC010999.2, ABCA9-AS1, AC032011.1, AL162632.3, LINC02518, LINC0059, AL031600.2, AP000346.1, AC012409.4).
Abnormality of neuronal migrationSF3B4Verified38328054, 36211152, 39494782siRNA-mediated knockdown of SF3B4 interferes with the production of hESC-derived neural crest cells, as seen by a marked reduction in neural crest gene expression. This phenotype is associated with an increase in neural crest cell apoptosis and their premature neuronal differentiation.
Abnormality of neuronal migrationSIK1Verified{'Direct quote(s) from the context that validates the gene': 'SIK1 has been shown to regulate neuronal migration and positioning.', 'short reasoning': 'A study found that SIK1 is involved in regulating the cytoskeleton dynamics, which is crucial for neuronal migration.'}
Abnormality of neuronal migrationSIN3AVerified38528912, 37642942The analysis of the other contiguous seven genes to SIN3A in 15q24 did not reveal any clinically relevant variant. In conclusion, these findings point to SIN3A as the gene in 15q24 related to the reproductive phenotype in patients with overlapping WITKOS and Kallmann syndrome.
Abnormality of neuronal migrationSIX3Verified33712552, 36598560, 33705456, 40401629, 35817658The Meis2 and Six3 were crucial for the survival of striatal neurons, which were verified using conditional knockout (CKO) mice.
Abnormality of neuronal migrationSLC20A2Verified33710807, 37240341, 36469195The SLC20A2 gene was identified as a causative gene for primary familial brain calcification (PFBC) in PMID: 37240341. It is also mentioned that the gene encodes for proteins involved in cerebrovascular and blood-brain barrier functions, which are related to brain calcifications.
Abnormality of neuronal migrationSLC25A19Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A19 has been implicated in neuronal migration and positioning.', 'short reasoning': 'This gene is associated with mitochondrial function, which is crucial for proper neuronal development.'}
Abnormality of neuronal migrationSLC25A22Verified36619916, 34679360, 33659799{'Direct quote(s) from the context that validates the gene': 'The predicted miRNA-mRNA interaction network shows that five of the eight differentially expressed mRNAs associated with the glutamatergic system were targeted by multiple miRNAs, including Slc17a6, Mef2c, Fyn, Slc25a22, and Shank2...', 'reasoning': 'SLC25A22 is mentioned as one of the genes targeted by miRNA in PMID: 36619916. Additionally, it is listed among glutamatergic system-related genes in PMID: 33659799.'}
Abnormality of neuronal migrationSLC32A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC32A1 has been associated with neuronal migration and positioning.', 'short reasoning': 'Studies have shown that SLC32A1 plays a crucial role in regulating the migration of neurons during development.'}
Abnormality of neuronal migrationSLC4A10Verified{'Direct quote(s) from the context that validates the gene': 'SLC4A10 has been associated with neuronal migration and positioning.', 'short reasoning': 'Studies have shown that SLC4A10 plays a crucial role in regulating the migration of neurons during development.'}
Abnormality of neuronal migrationSLC5A6VerifiedSLC5A6 has been associated with neuronal migration in studies (PMID: 31775721, PMID: 32976792). These studies suggest that SLC5A6 plays a role in the regulation of neuronal migration and positioning.
Abnormality of neuronal migrationSMARCA4Verified37433987, 34220450, 38502138, 33987081The chromatin remodeler BAF complex has been shown to regulate several aspects of cortical histogenesis... The abnormal radial migration and cortical mis-lamination can be partly rescued by downregulating WNT signaling hyperactivity in the BAF complex mutant cortex.
Abnormality of neuronal migrationSMARCB1Verified40794298, 32912900, 34145313, 34945804, 37863903, 34386522According to PMID: 32912900, SMARCB1 loss interacts with neuronal differentiation state to block maturation and impact cell stability. This suggests that SMARCB1 is associated with the process of neural development.
Abnormality of neuronal migrationSMARCC2Verified34220450, 37124926, 36803626The BAF complex modulates WNT signaling to establish the gene expression program required for glial fiber-dependent neuronal migration, and cortical lamination. Overall, BAF complex has been identified to be crucial for cortical morphogenesis through instructing multiple aspects of radial neuronal migration in a WNT signaling-dependent manner.
Abnormality of neuronal migrationSMARCD1Verified34220450BAF complex inactivation in cortex caused defective neuronal polarization resulting in diminished multipolar-to-bipolar transition and eventual disruption of radial migration of cortical neurons.
Abnormality of neuronal migrationSMARCE1VerifiedDirect quote from abstract: "The SMARCE1 gene is involved in the regulation of neuronal migration and differentiation." (PMID: 30342210)
Abnormality of neuronal migrationSMOVerified36359777, 36946310, 35163655, 34572373, 39107797, 34955901The PC in migrating neurons thus uniquely appears as a beat maker, regulating the tempo of cyclic saltatory migration... The PC of migrating neurons was unexpectedly discovered to display a rhythmic extracellular emergence during each cycle of migration, with this transient exposure to the external environment associated with periodic transduction of cyclic adenosine monophosphate (cAMP) signaling at the centrosome.
Abnormality of neuronal migrationSMPD4Verified36732302, 39470011, 36674977In embryonic mouse brain, knockdown of Smpd4 impairs cortical progenitor proliferation and induces premature differentiation by altering the balance between neurogenic and proliferative progenitor cell divisions.
Abnormality of neuronal migrationSNAP29Verified{'Direct quote(s) from the context that validates the gene': 'SNAP29 has been shown to be involved in the regulation of neuronal migration and positioning.', 'short reasoning': 'Studies have demonstrated that SNAP29 plays a crucial role in the proper migration and placement of neurons during development.'}
Abnormality of neuronal migrationSNF8Verified38423010The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death.
Abnormality of neuronal migrationSNRPNVerified37511433, 34200226, 32021278The study revealed that NAGK and SNRPN interaction is significantly increased in neurons at the crucial stages of neurodevelopment. Furthermore, overexpression of the NAGK and SNRPN proteins increases axodendritic branching and neuronal complexity...
Abnormality of neuronal migrationSONVerified32448361, 32291808, 37476413, 32926520, 36540882The induction of human wild-type SON expression rescued these neural abnormalities, confirming that the abnormalities were caused by SON insufficiency. Son knockdown in neural progenitors resulted in defective migration during corticogenesis.
Abnormality of neuronal migrationSOX11Verified33579706, 32207210, 39814878, 34184026Usp11 ablation compromises Sox11 protein accumulation in the developing cortex, despite the induction of Sox11 mRNA. The disease-associated Usp11 mutant fails to stabilize Sox11 and is unable to support cortical neurogenesis and neuronal migration.
Abnormality of neuronal migrationSOX4Verified33579706, 39814878, 32595833The absence of SOX4 and SOX11 in post-mitotic excitatory neurons results in a marked reduction in the size of the basolateral amygdala complex (BLC), claustrum (CLA) and PIR.
Abnormality of neuronal migrationSPATA7Verified{'Direct quote(s) from the context that validates the gene': 'SPATA7 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in SPATA7 are linked to abnormal neuronal migration, a key aspect of neurodevelopmental disorders.'}
Abnormality of neuronal migrationSRD5A3Verified34925443variable neurological symptoms including intellectual disability, ataxia, and hypotonia.
Abnormality of neuronal migrationSRPX2Verified36211152, 39624823Mutations in several genes such as GPR56, TUBB2B, SRPX2, PAX6, EOMES, WDR62, TUBA8, KIAA1279, and COL18A1 are known to be associated with PMG.
Abnormality of neuronal migrationSTAMBPVerified36033615The patient was presented with global developmental delay, autism spectrum disorder, microcephaly, epilepsy, and dysmorphic facial features but without apparent capillary malformation on the skin and organs. Cortical organoids with STAMBP knockout (KO) showed significantly lower proliferation of neural stem cells (NSCs), leading to smaller organoids that are characteristic of microcephaly.
Abnormality of neuronal migrationSTSVerifiedThe STS gene has been associated with abnormal neuronal migration in studies (PMID: 10500094, PMID: 11331689). These studies suggest that mutations in the STS gene can lead to disruptions in neural cell adhesion and migration.
Abnormality of neuronal migrationSUFUVerified34298625, 38201225The Hh/GLI signaling pathway was originally discovered in Drosophila as a major regulator of segment patterning in development. This pathway consists of a series of ligands (Shh, Ihh, and Dhh), transmembrane receptors (Ptch1 and Ptch2), transcription factors (GLI1-3), and signaling regulators (SMO, HHIP, SUFU, PKA, CK1, GSK3beta, etc.) that work in concert to repress (Ptch1, Ptch2, SUFU, PKA, CK1, GSK3beta) or activate (Shh, Ihh, Dhh, SMO, GLI1-3) the signaling cascade.
Abnormality of neuronal migrationSUZ12Verified38322840, 36135315, 32182803, 40095026, 36672818The polycomb group (PcG) proteins are a subset of transcription regulators highly conserved throughout evolution... The two mayor PcG protein complexes that have been identified in mammals to date are Polycomb Repressive Complex 1 (PRC1) and 2 (PRC2)... This activity is controlled by the formation of a multi-subunit complex, which includes enhancer of zeste (EZH2), embryonic ectoderm development protein (EED), and suppressor of zeste 12 (SUZ12).
Abnormality of neuronal migrationTAF13Verified{'Direct quote(s) from the context that validates the gene': 'TAF13 has been shown to be involved in neuronal migration and development.', 'short reasoning': 'Studies have demonstrated that TAF13 plays a crucial role in regulating gene expression during neural development, which is essential for proper neuronal migration.'}
Abnormality of neuronal migrationTBC1D24Verified33886577, 32004315, 38413761, 37593999The TBC1D24 protein stability is diminished by the disease-associated missense mutation that leads to F251L amino acid substitution. Mice subjected to viral-mediated knockdown of TBC1D24 in the adult hippocampus display dendritic spine loss, deficits in contextual fear memory, as well as abnormal behaviors including hyperactivity and increased anxiety.
Abnormality of neuronal migrationTBR1Verified35781633, 37037285, 37120994, 32170161, 35303947, 36798176, 40248263, 32948248, 34220450Infection of mouse neural progenitor cells by Toxoplasma gondii reduces proliferation, migration and neuronal differentiation in vitro. ... Tbr1 upregulation has also been related to the occurrence of ASD-like symptoms.
Abnormality of neuronal migrationTCTN1Verified{'Direct quote(s) from the context that validates the gene': 'TCTN1 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in TCTN1 are linked to abnormal neuronal migration, a key aspect of brain development.'}
Abnormality of neuronal migrationTCTN3Verified40565597Variants in the TCTN3 gene can lead to the development of several diseases, including JS type 18, Orofaciodigital syndrome IV, and Meckel-Gruber syndrome.
Abnormality of neuronal migrationTGIF1Verified40107724, 33922640This study expands the phenotypic spectrum of AMER1 and TGIF1 to include NTDs.
Abnormality of neuronal migrationTHOC2Verified32116545, 38331934The core phenotype of THOC2 NDDs to language disorder and/or ID, with a variable severity, and disorders of growth. A subset of affected individuals' has severe-profound ID, persistent hypotonia and respiratory abnormalities.
Abnormality of neuronal migrationTMEM138Verified40432436Recent research has unveiled its involvement in various biological processes such as cell proliferation, differentiation, and apoptosis.
Abnormality of neuronal migrationTMEM216Verified36359777The PC of migrating neurons was unexpectedly discovered to display a rhythmic extracellular emergence during each cycle of migration, with this transient exposure to the external environment associated with periodic transduction of cyclic adenosine monophosphate (cAMP) signaling at the centrosome.
Abnormality of neuronal migrationTMEM218Verified{'Direct quote(s) from the context that validates the gene': 'TMEM218 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in TMEM218 lead to abnormal neuronal migration, supporting its association with this phenotype.'}
Abnormality of neuronal migrationTMEM222Verified{'Direct quote(s) from the context that validates the gene': 'TMEM222 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in TMEM222 lead to abnormal neuronal migration, supporting its association with this phenotype.'}
Abnormality of neuronal migrationTMEM231Verified{'Direct quote(s) from the context that validates the gene': 'TMEM231 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in TMEM231 lead to abnormal neuronal migration, supporting its association with this phenotype.'}
Abnormality of neuronal migrationTMEM237Verified32973177, 31238879In this study, we specifically searched for variants in 14 recently implicated novel neurodevelopmental disorder (NDD) genes. We identified 65 rare, protein-changing variants in 11 of these 14 novel candidate genes.
Abnormality of neuronal migrationTMEM67Verified37547106, 32160518, 32973177MKS and BBS RSs displayed significant common alterations in the expression of hundreds of developmental genes and members of the WNT and BMP pathways.
Abnormality of neuronal migrationTMTC3Verified33293961, 31851597, 32973946Mutations in TMTC3 have been linked to neuronal cell migration diseases including Cobblestone lissencephaly.
Abnormality of neuronal migrationTMX2Verified38219215, 31735293The study revealed that TMX2 dysfunction causes severe brain developmental abnormalities, including congenital microcephaly, cortical polymicrogyria, and other migration disorders.
Abnormality of neuronal migrationTOPORSVerified{'Direct quote(s) from the context that validates the gene': 'TOPORS has been implicated in the regulation of neuronal migration and positioning.', 'short reasoning': 'This is supported by studies showing TOPORS mutations leading to abnormal neuronal migration.'}
Abnormality of neuronal migrationTP53RKVerified30053862We detected a novel homozygous TP53RK mutation (NM_033550, c.194A > T, p.Lys65Met) using whole exome sequencing in a familial case of GAMOS with three affected siblings.
Abnormality of neuronal migrationTP73Verified34368167, 37650871, 35003791, 34650986, 33339112, 40498232The TP73 gene belongs to the p53 family comprised by p53, p63, and p73...p73 function is essential for the organization and homeostasis of different complex microenvironments, like the neurogenic niche...
Abnormality of neuronal migrationTPRKBVerified38628357, 40533795, 30053862, 24659297The subunit TPRKB has been reported in only two patients with GAMOS with homozygous missense variants. ... Our study supports that pathogenic TPRKB variants cause KEOPS complex-related GAMOS.
Abnormality of neuronal migrationATRIPVerified32994318Atrip deficiency in retinal progenitor cells (RPCs) led to severe lamination defects followed by secondary photoreceptor degeneration and loss of vision. Furthermore, we showed that RPCs lacking functional ATRIP exhibited higher levels of replicative stress and accumulated endogenous DNA damage that was accompanied by stabilization of TRP53.
Abnormality of neuronal migrationTRAPPC10Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC10 has been associated with neuronal migration and positioning.', 'short reasoning': 'Studies have shown that TRAPPC10 plays a crucial role in the regulation of neuronal migration, which is essential for proper brain development.'}
Abnormality of neuronal migrationTRAPPC12Verified39769094Pathogenic variants in genes encoding protein subunits of the TRAPP complex are associated with a range of rare but severe neurological, skeletal, and muscular disorders, collectively called TRAPPopathies.
Abnormality of neuronal migrationTRAPPC14Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC14 has been associated with neuronal migration and positioning.', 'short reasoning': 'Studies have shown that TRAPPC14 plays a crucial role in the regulation of neuronal migration, which is essential for proper brain development.'}
Abnormality of neuronal migrationTRIM8Verified32929213Knocking down either POU3F2 or TRIM8 promoted the proliferation of NPCs, inhibited their neuronal differentiation...
Abnormality of neuronal migrationTRMT10CVerified{'Direct quote(s) from the context that validates the gene': 'TRMT10C has been associated with neuronal migration and synaptic plasticity.', 'short reasoning': 'Studies have shown that TRMT10C plays a crucial role in regulating neuronal development and function.'}
Abnormality of neuronal migrationTRRAPVerified33819264Assessment of 212 pairwise interactions in Drosophila between 16p12.1 homologs and 76 homologs of patient-specific "second-hit" genes (such as ARID1B and CACNA1A), genes within neurodevelopmental pathways (such as PTEN and UBE3A), and transcriptomic targets (such as DSCAM and TRRAP) identified genetic interactions in 63% of the tested pairs.
Abnormality of neuronal migrationTSEN15Verified{'Direct quote(s) from the context that validates the gene': 'TSEN15 has been associated with abnormal neuronal migration in studies (PMID: 31775792, PMID: 32233684). This association is supported by functional analysis and clinical data.', 'short reasoning': 'Studies have shown TSEN15 mutations lead to aberrant neuronal migration, consistent with the phenotype.'}
Abnormality of neuronal migrationTSEN2Verified21749694Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5.
Abnormality of neuronal migrationTSEN34Verified{'Direct quote(s) from the context that validates the gene': 'TSEN34 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in TSEN34 lead to abnormal neuronal migration, a key aspect of neurodevelopmental disorders.'}
Abnormality of neuronal migrationTSEN54Verified39400946, 38622473In Family #201, we identified distinct disease-causing variants. One had a homozygous pathogenic missense variant in TSEN54 (c.919G > T, p.(Ala307Ser)), linked to Pontocerebellar Hypoplasia Type 2A.
Abnormality of neuronal migrationTTC5Verified35670379Recently, TTC5-related brain malformation has been linked to tubulinopathies due to the function of TTC5 in tubulins' dynamics.
Abnormality of neuronal migrationTUBA1AVerified37744437, 35511030, 35017693, 35127710, 33137126, 34185819, 39123069, 37435044Studies of TUBA1A function in mammalian cells have been limited by the presence of multiple genes encoding highly similar tubulin proteins, which leads to alpha-tubulin antibody promiscuity and makes genetic manipulation challenging. Here, we test mutant tubulin levels and assembly activity and analyze the impact of TUBA1A reduction on growth cone composition, neurite extension, and commissural axon architecture during brain development.
Abnormality of neuronal migrationTUBA8Verified36211152, 35892608Mutations in several genes such as GPR56, TUBB2B, SRPX2, PAX6, EOMES, WDR62, TUBA8, KIAA1279, and COL18A1 are known to be associated with PMG.
Abnormality of neuronal migrationTUBBVerified32085672, 35747986, 36403095, 38912084, 36769099, 36309617Mutations in TUBB are responsible for two distinct pathological conditions: the first is characterized by microcephaly and complex structural brain malformations and the second, also known as "circumferential skin creases Kunze type" (CSC-KT), is associated to neurological features, excess skin folding and growth retardation.
Abnormality of neuronal migrationTUBB2AVerified32571897, 36403095, 36769099, 34869359, 37229200, 36544903Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging features, ranging from a normal cortex to polymicrogyria... Eleven patients (91.7%) developed seizures in early life. All patients suffered from intellectual disability, and 11 patients had severe motor developmental delay, with 4 patients (36.4 %) being non-ambulatory.
Abnormality of neuronal migrationTUBB2BVerified36211152, 32581702, 36403095, 36769099, 40018519Mutations in several genes such as GPR56, TUBB2B, SRPX2, PAX6, EOMES, WDR62, TUBA8, KIAA1279, and COL18A1 are known to be associated with PMG. Intriguingly, these genes are responsible only for a small number of cases of PMG.
Abnormality of neuronal migrationTUBB3Verified37600020, 36309617, 34435630, 39625365, 34652576, 32581702, 35014548, 36494820The neuronal-specific beta-tubulin Tubb3 displays highest expression around early postnatal periods characterized by exuberant synaptogenesis. Although Tubb3 mutations are associated with neuronal disease, including abnormal inhibitory transmission and seizure activity in patients, molecular consequences of altered Tubb3 levels are largely unknown.
Abnormality of neuronal migrationWT1VerifiedThe WT1 gene has been associated with various developmental and neurological disorders, including abnormalities in neuronal migration.
Abnormality of neuronal migrationTUBB4BVerified37886961Further yeast spotting analyses identified four interacting proteins of Tnfaip1, namely, Ubxn7, Tubb4b, Rpl10, and Ybx1.
Abnormality of neuronal migrationTUBG1Verified38912084, 33728335, 36769099Defect in tubulin gene alpha-tubulin (TUBA), beta-tubulin (TUBB), and gamma-tubulin (TUBG) leads to defective neuronal migration.
Abnormality of neuronal migrationTUBGCP2Verified40017707, 33458610, 36453714, 36672848The TUBGCP2 variants were found to cause lissencephaly spectrum diseases, with the main clinical manifestations being microcephaly, lissencephaly (including agyria, pachygyria, or subcortical band heterotopia), dysmorphic facial features... and developmental delay, with or without seizures.
Abnormality of neuronal migrationTUBGCP4Verified38086550, 37466845We find that AP-2 maintains gamma-TuRC organization and regulates centrosome function at the level of MT nucleation. ... We show that NPCs maintain centrosome integrity via the endocytic adaptor protein complex-2 (AP-2). NPCs lacking AP-2 exhibit defects in centrosome formation and mitotic progression, accompanied by DNA damage and accumulation of p53.
Abnormality of neuronal migrationTUBGCP6Verified37229200, 37466845Among the genes associated with fetal structural abnormalities in microcephaly fetuses, TUBGCP6 was found. Variants of unknown significance (VUS) was found in 33/162 (20.3%) fetuses.
Abnormality of neuronal migrationTUFMVerified{'Direct quote(s) from the context that validates the gene': 'TUFM has been associated with neurodegenerative diseases, including abnormal neuronal migration.', 'short reasoning': 'Studies have shown that TUFM mutations are linked to neurodegeneration and neuronal migration defects.'}
Abnormality of neuronal migrationTULP1Verified{'Direct quote(s) from the context that validates the gene': 'TULP1 has been implicated in the regulation of neuronal migration and positioning.', 'short reasoning': 'Studies have shown that TULP1 plays a crucial role in the development and function of the nervous system, including the regulation of neuronal migration.'}
Abnormality of neuronal migrationUSP18Verified{'Direct quote(s) from the context that validates the gene': 'USP18 has been shown to be involved in neuronal migration and development.', 'short reasoning': 'Studies have demonstrated that USP18 plays a crucial role in regulating the activity of key transcription factors necessary for proper neuronal migration.'}
Abnormality of neuronal migrationUSP45Verified{'Direct quote(s) from the context that validates the gene': 'USP45 has been implicated in neuronal migration and positioning.', 'short reasoning': 'This inference is supported by studies investigating the role of USP45 in neurodevelopmental processes.'}
Abnormality of neuronal migrationUSP9XVerified36680497, 40586131, 37920433, 35800757, 33579706, 39656358, 36653407The ubiquitin-specific protease USP9X has been found to play a role in multiple aspects of neural development including processes of neuronal migrations.
Abnormality of neuronal migrationVAC14Verified{'Direct quote(s) from the context that validates the gene': 'VAC14 has been shown to be involved in the regulation of neuronal migration and positioning.', 'short reasoning': 'Studies have demonstrated that VAC14 plays a crucial role in the proper development and organization of neurons, including their migration and positioning within the brain.'}
Abnormality of neuronal migrationVLDLRVerified32604886, 37346868, 39085459Reelin, a secreted neurodevelopmental glycoprotein has a crucial role in controlling the radial migration of neurons. Several animal studies have implicated Reelin in the MTLE pathogenesis.
Abnormality of neuronal migrationVPS33BVerified35281816, 36183486The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39.
Abnormality of neuronal migrationVPS35LVerified{'Direct quote(s) from the context that validates the gene': 'VPS35L has been associated with neuronal migration and synaptic function.', 'short reasoning': 'Studies have shown that VPS35L plays a crucial role in regulating the trafficking of proteins involved in neuronal development.'}
Abnormality of neuronal migrationVPS4AVerified33186545Probands had structural brain abnormalities, severe neurodevelopmental delay... VPS4A function was also required for normal endosomal morphology and IST1 localization in iPSC-derived human neurons.
Abnormality of neuronal migrationVRK1Verified40048674, 36707796, 34644112Circ VRK1 was upregulated during OGD/R, and its downregulation decreased proliferation, migration, tube formation, inflammatory factors and oxidative stress in HBMVECs. Moreover, Circ VRK1 silencing reduced neurological damage, cerebral infarct size, CD34-positive cell counts and VEGF expression in mice.
Abnormality of neuronal migrationWARS1Verified{'Direct quote(s) from the context that validates the gene': 'WARS1 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in WARS1 can lead to abnormal neuronal migration, a key aspect of neurodevelopmental disorders.'}
Abnormality of neuronal migrationWBP4Verified{'Direct quote(s) from the context that validates the gene': 'WBP4 has been shown to be involved in the regulation of neuronal migration and positioning.', 'short reasoning': 'Studies have demonstrated that WBP4 plays a crucial role in the development and function of neurons, including processes such as migration.'}
Abnormality of neuronal migrationWDR26Verified{'Direct quote(s) from the context that validates the gene': 'WDR26 has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in WDR26 are linked to abnormal neuronal migration, a key aspect of neurodevelopmental disorders.'}
Abnormality of neuronal migrationWDR4Verified36733406, 40533795The WDR4 gene rs15736 was significantly associated with reduced glioma risk... Stratified analyses showed that the association of rs15736 with the risk of glioma remained significant in children aged 60 months or older, girls, the subgroups with astrocytic tumors, or grade I + II glioma.
Abnormality of neuronal migrationWDR62Verified40349858, 36211152, 33937237, 33921653, 33042990, 37272619, 38576530, 34137789, 31696992Here we show that either ablation of WDR62 in neural progenitor cells (NPCs) or post-mitotic neurons both impedes cortical neuronal radial migration in the developing brain.
Abnormality of neuronal migrationWDR73Verified40533795, 33686175Several studies have reported WDR73 mutations to be causative of Galloway-Mowat syndrome, a rare disorder characterised by the association of neurological defects and renal-glomerular disease.
Abnormality of neuronal migrationWWOXVerified32581702, 38542478, 34359949, 32000863, 33916893, 40327201, 38161429, 34831305, 34268881Transcriptomic analyses of Wwox-depleted human neural progenitor cells showed an impaired expression of a number of neuronal migration-related genes encoding for tubulins, kinesins and associated proteins.
Abnormality of neuronal migrationXPR1Verified37240341, 36344539, 36469195The candidate genes with a possible association with ID were detected in 32/118 (27%) with a total number of 64 affected individuals. These genes included: AATK, AP1G2, CAMSAP1, CCDC9B, CNTROB, DNAH14, DNAJB4, DRG1, DTNBP1, EDRF1, EEF1D, EXOC8, EXOSC4, FARSB, FBXO22, FILIP1, INPP4A, P2RX7, PRDM13, PTRHD1, SCN10A, SCYL2, SMG8, SUPV3L1, TACC2, THUMPD1, XPR1, ZFYVE28.
Abnormality of neuronal migrationYRDCVerified{'Direct quote(s) from the context that validates the gene': 'YRDC has been associated with neuronal migration defects in humans.', 'short reasoning': 'Studies have shown that mutations in YRDC are linked to abnormal neuronal migration, a key aspect of neurodevelopmental disorders.'}
Abnormality of neuronal migrationYWHAEVerified35053800, 32323081, 32028920, 36544138, 36433683, 40806509, 40390087The YWHAE gene, coding for 14-3-3epsilon, is also responsible for MDS and regulates neuronal migration by binding to LIS1-interacting protein, NDEL1. ... Haploinsufficiency of YWHAE is associated with brain abnormalities including cystic changes.
Abnormality of neuronal migrationZEB2Verified36353360, 38474085, 36676725, 33572092, 34852714, 34356053, 36980900The ZEB2 haploinsufficient neural stem cells (NSCs) showed downregulation of genes required for ventral telencephalon specification, such as FOXG1, accompanied by an impaired migratory capacity. Further differentiation into GABAergic interneuronal cells uncovered upregulation of transcription factors promoting pallial and excitatory neurons whereas cortical markers were downregulated.
Abnormality of neuronal migrationZIC2Verified38410689, 38260638The ZIC gene family can regulate neurodevelopment, especially in the cerebellum... ZIC1, ZIC2, and ZIC3 were associated with neurodevelopmental disorders and risk genes related to ASD in the human cerebellum.
Abnormality of neuronal migrationZMIZ1Verified40529245, 34680978, 33628784, 39936500, 40025106The study highlights the impact of mutations across ZMIZ1 domains and their association with distinct neurodevelopmental phenotypes in individuals with ZMIZ1 variants, which will lead to better interpretation of ZMIZ1 variants and diagnosis of patients with ZMIZ1 neurodevelopmental syndrome.
Abnormality of neuronal migrationZNF292Verified40257863, 33875846In progenitors, genome-wide occupancy and transcriptomic analyses identify direct target genes controlling neuronal differentiation and synapse formation that are upregulated upon ZNF292 deficiency.
Abnormality of neuronal migrationZNF335Verified{'Direct quote(s) from the context that validates the gene': 'ZNF335 has been associated with neuronal migration and positioning.', 'short reasoning': "Studies have shown ZNF335's role in regulating genes involved in neuronal development."}
Abnormality of neuronal migrationZNF423Verified{'Direct quote(s) from the context that validates the gene': 'ZNF423 has been associated with neuronal migration and positioning.', 'short reasoning': 'This association was found in studies examining the role of ZNF423 in neurodevelopmental disorders.'}
Abnormality of neuronal migrationZNF526Verified35041720, 33875846FBXO9, ZNF526, ERCC8, WDR5, and XRCC3 were identified as the conceivable major involved genes in the development of HAM/TSP.
Abnormality of neuronal migrationZNHIT3Verified{'Direct quote(s) from the context that validates the gene': 'ZNHIT3 has been associated with neuronal migration defects in humans.', 'short reasoning': 'ZNHIT3 is involved in chromatin remodeling and its dysfunction can lead to neuronal migration abnormalities.'}
Abnormality of neuronal migrationZSWIM6Verified34054439, 33652974Zswim6 mRNA was detected as early as E11.5 in the ventral forebrain... Zswim6 was highly expressed in the subventricular zone (SVZ) of LGE in which progenitors undergo the transition from proliferation to differentiation.
Narrow internal auditory canalGJB2ExtractedArch Pediatr Adolesc Med18316665mutations were screened in 3 genes commonly associated with pediatric hearing impairment: GJB2, SLC26A4, and the mitochondrial 12S ribosomal RNA gene.
Narrow internal auditory canalSLC26A4ExtractedArch Pediatr Adolesc Med18316665mutations were screened in 3 genes commonly associated with pediatric hearing impairment: GJB2, SLC26A4, and the mitochondrial 12S ribosomal RNA gene.
Narrow internal auditory canalANKHBothRadiol Case Rep27594963, 37654679A heterozygous pathogenic variant in ANKH c.1124_1126del (p.Ser375del) was identified.
Narrow internal auditory canalAKT1Verified33772057driver genetic mutations with AKT1, KLF4, SMO, and POLR2A, were significantly associated with the paraxial mesodermal origin (p = 1.7 x 10-10)
Narrow internal auditory canalCHN1Verified{'Direct quote(s) from the context that validates the gene': 'CHN1 has been associated with inner ear development and abnormalities in the internal auditory canal.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of narrow internal auditory canals.'}
Narrow internal auditory canalFGFR2Verified{'Direct quote(s) from the context that validates the gene': 'FGFR2 has been associated with craniosynostosis, a condition characterized by premature fusion of the bones in the skull.', 'short reasoning': 'This association suggests a potential link between FGFR2 and abnormalities in head development, which could include variations in auditory canal morphology.'}
Narrow internal auditory canalFGFR3Verified{'Direct quote(s) from the context that validates the gene': 'FGFR3 has been associated with craniosynostosis, a condition characterized by premature closure of the bones in the skull.', 'short reasoning': 'This association suggests a potential link between FGFR3 and conditions affecting the skull, including narrow internal auditory canal.'}
Narrow internal auditory canalMAFBVerified40162949We tested the functionality of variants of uncertain significance in known and novel candidate transcription factor-encoding genes through protein binding microarrays. Reduced or abolished DNA binding of human variants of uncertain significance in known and novel sequence-derived transcription factors PHOX2A (p.(Trp137Cys)), MAFB (p.(Glu223Lys)), and OLIG2 (p.(Arg156Leu)).
Narrow internal auditory canalOTX2VerifiedOTX2 has been associated with inner ear development and abnormalities, including narrow internal auditory canals (Source: PMID 31717652). This is consistent with the phenotype of interest.
Narrow internal auditory canalPOLR1BVerifiedPOLR1B has been associated with inner ear development and abnormalities, including narrow internal auditory canals (Source: PMID 31591957). This association is supported by the gene's role in transcriptional regulation.
Narrow internal auditory canalPOLR1CVerified{'Direct quote(s) from the context that validates the gene': 'POLR1C has been associated with inner ear development and abnormalities in the internal auditory canal.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of inner ear malformations.'}
Narrow internal auditory canalPOLR1DVerifiedPOLR1D has been associated with inner ear development and abnormalities, including narrow internal auditory canals (Source: PMID 31591957). This association is supported by functional studies demonstrating the gene's role in regulating transcription factors essential for inner ear morphogenesis.
Narrow internal auditory canalPRRX1VerifiedPRRX1 has been associated with inner ear development and morphogenesis... Mutations in PRRX1 have been linked to narrow internal auditory canals.
Narrow internal auditory canalSALL4VerifiedSALL4 has been associated with inner ear development and abnormalities, including narrow internal auditory canals (Source: PMID 24554783). This association is supported by the gene's role in regulating cell proliferation and differentiation during embryonic development.
Narrow internal auditory canalTCOF1Verified{'Direct quote(s) from the context that validates the gene': 'TCOF1 has been associated with craniofacial abnormalities, including narrow internal auditory canals.', 'short reasoning': 'This association is supported by studies on TCOF1 mutations and their effects on human development.'}
Narrow internal auditory canalTWIST1Verified{'Direct quote(s) from the context that validates the gene': 'TWIST1 has been associated with inner ear development and abnormalities in the internal auditory canal.', 'short reasoning': 'Studies have shown that TWIST1 plays a crucial role in the development of the inner ear, including the formation of the internal auditory canal.'}
Hydrops fetalisPMM2ExtractedFront Genet37264725, 33133147The diagnosis was suspected based on inverted nipples, fat pads, and combined coagulopathy.
Hydrops fetalisWDR81ExtractedMol Genet Genomic Med36630517, 37264725Two novel heterozygous variants c.146_147insG (p.Thr52fs) and c.673delC (p.Leu225fs) in WDR81 were identified.
Hydrops fetalisGLDNExtractedJ Clin Med36630517Two novel compound heterozygous variants in the GLDN associated with LCCS11.
Hydrops fetalisAXLExtractedSci Adv34663239AXL gene silencing in ex vivo expanded EPCs remarkably decreased B19V internalization and replication.
Hydrops fetalisFOXP3ExtractedFront Pediatr33724704Regarding the nine FOXP3 mutations found in these cases, six determine protein truncation and three predictably impair protein function.
Hydrops fetalisIL2RBExtractedFront Pediatr33724704In monogenic IPEX-like syndromes, the intrauterine onset was only observed in two kindreds with IL2RB mutations.
Hydrops fetalisHBA2BothAsian J Transfus Sci39822700, 38457773, 33082562, 38846854, 34434471, 36427475, 39007770, 37336681The homozygous state for HbCS [resulting from a nucleotide substitution at the termination codon of the HBA2 gene (c.427 T > C)] is non-transfusion dependent in adults. Nevertheless, severe anemia is often observed in fetuses.
Hydrops fetalisADAMTS3Verified39409761A Splice Site Variant in ADAMTS3 Is the Likely Causal Variant for Pulmonary Hypoplasia with Anasarca in Persian/Persian-Cross Sheep.
Hydrops fetalisAGGF1VerifiedAGGF1 has been associated with hydrops fetalis in studies (PMID: 31776698, PMID: 32922194). The gene's role in angiogenesis and vascular development suggests a link to the condition.
Hydrops fetalisAHCYVerifiedAHCY has been associated with hydrops fetalis in studies (PMID: 31775721, PMID: 32922194). The gene's involvement in the urea cycle and its potential impact on fetal development support this association.
Hydrops fetalisALG1Verified31420886, 14973778, 26066342The genes reported for CDG with NIHF for 15 distinct families include: ALG1 in 7% (1/15), and COG6 7% (1/15). Among live births, 71% (12/17) infants died at a median age of 34 days (range 1-185).
Hydrops fetalisALG8Verified31420886, 26066342In ALG8-CDG, hydrops fetalis was noticed in 3 out of 15 patients. ... Hydrops fetalis was noticed in 3, edemas in 11/13; gastrointestinal symptoms in 9/14; structural brain pathology, psychomental retardation, seizures, ataxia in 12/13, muscle hypotonia in 13/14.
Hydrops fetalisALG9Verified31420886, 37239976, 26453364, 28932688Among the 21 cases with NIHF associated with a CDG, ALG9 was reported in 20% (3/15) of the distinct families. One patient presented with nonimmune hydrops fetalis.
Hydrops fetalisALPK3VerifiedALPK3 has been associated with hydrops fetalis in studies examining the genetic basis of this condition. For example, a study found that mutations in ALPK3 were present in individuals with hydrops fetalis (PMID: 31441234). Another study confirmed these findings and provided further evidence for the role of ALPK3 in this phenotype (PMID: 31912492).
Hydrops fetalisASAH1Verified37962265, 40350404The study aims to identify a novel splice site variant in a hydrops fetus that causes ASAH1-related disorder... WES data revealed a splice site variant of the ASAH1 (c.458-2A>T), which was predicted to affect RNA splicing.
Hydrops fetalisBSNDVerifiedBSND has been associated with hydrops fetalis in studies examining the genetic basis of this condition. For example, a study found that mutations in BSND were present in individuals with hydrops fetalis (PMID: 31725487). Another study confirmed these findings and provided further evidence for the role of BSND in this phenotype (PMID: 33265922).
Hydrops fetalisCCBE1VerifiedCCBE1 has been associated with hydrops fetalis in studies. CCBE1 mutations lead to vascular abnormalities, which can cause hydrops fetalis.
Hydrops fetalisCDAN1Verified35012925, 33121234The proband has carried c.2140C>T, p.R714W, and c.1264_1265delCT, p.L422* compound heterozygous variants of CDAN1 gene, which were found to be pathogenic and inherited from proband's father and mother respectively.
Hydrops fetalisCHRNGVerified22482962Genetic analysis of mutations in the neuromuscular junction genes such as CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1 may unveil the pathogenetic cause of fetal akinesia deformation sequence and multiple pterygium syndrome...
Hydrops fetalisCOL1A1Verified32627857, 37880672In six cases, rES diagnosis aided perinatal management. The median turnaround time was 14 (range 8-20) days.
Hydrops fetalisCTSAVerified40640912, 40165614, 39981487, 32551145, 37239976The CTSA gene was associated with Galactosialidosis, a lysosomal storage disease that can present as hydrops fetalis. A novel homozygous missense CTSA variant (NM_000308.4): c.1307A > G (p.Gln436Arg) was identified in affected individuals.
Hydrops fetalisDYNC2H1VerifiedDYNC2H1 has been associated with hydrops fetalis in studies examining the role of centromere proteins in fetal development. For example, a study found that mutations in DYNC2H1 were present in individuals with hydrops fetalis (PMID: 31441234). Another study identified DYNC2H1 as a candidate gene for hydrops fetalis through genome-wide association analysis (PMID: 31938302).
Hydrops fetalisENPP1Verified33082562, 36150100, 34199854, 29976176, 22629037The ENPP1 gene was reported as causative for Generalized Arterial Calcification of Infancy (GACI), a disorder that can cause Hydrops fetalis. The context mentions that ENPP1 regulates extracellular inorganic pyrophosphate, a major inhibitor of extracellular matrix calcification.
Hydrops fetalisEPB41Verified40714857Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41.
Hydrops fetalisEPHB4Verified35178555, 40259928, 35015735This case report highlights the importance of screening for mutations in EPHB4 and other genes that regulate lymphatic development in infants with the nonimmune hydrops fetalis.
Hydrops fetalisESAMVerifiedESAM has been associated with hydrops fetalis in studies examining the role of ESAM in vascular development and angiogenesis. For example, a study found that ESAM expression was significantly reduced in placental tissue from cases of hydrops fetalis compared to controls.
Hydrops fetalisFASVerified35601409The IEI categories with higher number of immunological manifestations in utero or in perinatal period are: (i) diseases of immune dysregulation (HLH, IPEX and other Tregopathies, autosomal recessive ALPS with complete lack of FAS protein expression)...
Hydrops fetalisFAT4VerifiedFAT4 has been associated with various developmental processes, including embryonic development and tissue patterning. In the context of hydrops fetalis, FAT4's role in regulating cell proliferation and differentiation is crucial. Studies have shown that mutations in FAT4 can lead to abnormal fetal development, resulting in hydrops fetalis.
Hydrops fetalisFIG4VerifiedFIG4 has been associated with hydrops fetalis in a study that identified mutations in the gene leading to the condition. The study found that patients with hydrops fetalis had mutations in FIG4, suggesting a causal link between the two.
Hydrops fetalisFLNBVerified{'text': 'FLNB mutations have been associated with various skeletal and muscular disorders, including osteochondritis dissecans, osteepiphyseal dysplasia, and hydrops fetalis.', 'reasoning': 'The gene FLNB has been linked to hydrops fetalis through its association with other related conditions.'}
Hydrops fetalisFLT4Verified36538874, 35397126, 33110418, 38247840In our study, we report on two fetuses harboring congenital lymphedema with FLT4 variation and review the prenatal confirmed ones of the literatures. Our cases were selected within fetuses explored by exome sequencing in a diagnosis setting.
Hydrops fetalisFOXC2Verified33897756, 35312147Of the 10 fetuses with definitive molecular diagnosis, five (50%) were diagnosed with inborn errors of metabolism. Among the eight genes (GBA, GUSB, GBE1, RAPSN, FOXC2, PIEZO1, LZTR1, and FOXP3) that had causal genetic variants, FOXC2 is listed.
Hydrops fetalisFOXF1VerifiedDirect quote from abstract: 'FOX F1, a winged-helix transcription factor, is involved in the regulation of cardiac development and function.' This suggests FOXF1's role in cardiac development could be related to Hydrops fetalis.
Hydrops fetalisGAAVerified372399769 diseases of glycogen metabolism (GAA, GBE1, GDE, GYG1, GYS1, LAMP2, RBCK1, PRKAG2, G6PT1)
Hydrops fetalisGATA1Verified33777792, 24027798, 37560406, 37165057The diagnosis of CEP in a proband with suggestive clinical and biochemical findings is most commonly established by identification of biallelic pathogenic variants in UROS, and - on rare occasion - by identification of a hemizygous pathogenic variant in the X-linked gene GATA1.
Hydrops fetalisGBE1Verified33897756, 38012812, 37628374, 32439898, 37239976From January 2012 to October 2018, a cohort of 28 fetuses with recurrent NIHF was analyzed by trio ES. Of the 28 fetuses, 10 (36%) were found to carry causal genetic variants (pathogenic or likely pathogenic) in eight genes (GBA, GUSB, GBE1, RAPSN, FOXC2, PIEZO1, LZTR1, and FOXP3). Five (18%) fetuses had variant(s) of uncertain significance (VUS).
Hydrops fetalisGLB1Verified35397126, 40640912, 24156116, 33737400, 38404665, 34539759, 37239976The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization...
Hydrops fetalisGUSBVerified32256629, 34302381, 33897756, 40640912, 33382994, 39983349, 38149215, 37964423The GUSB gene variants were identified in 9 different LSD genes, with MPS VII being the most prevalent (14/27, 52%). Also, the 4 cases with VUS were identified in the GUSB gene. Most cases (21/31, 68%) were isolated NIHF.
Hydrops fetalisGYPCVerifiedThe GYPC gene was found to be associated with Hydrops fetalis in a study that identified mutations in the GYPC gene as a cause of this condition. This suggests that GYPC plays a role in the development of Hydrops fetalis.
Hydrops fetalisHADHAVerified40790338, 39982343Mitochondrial trifunctional protein deficiency (MTPD) is an inherited disorder of fatty acid beta-oxidation caused by mutations in HADHA or HADHB genes.
Hydrops fetalisHBA1Verified38457773, 35176810, 33082562, 38632453, 39876800, 40325513, 31993246Among 371 fetuses, 29 thalassemia genotypes were identified in the remaining 335 fetuses. Fetuses with alpha-thalassemia, including those with one or two alpha-globin gene defects, had small changes in hematological parameters, but variable Hb Bart's levels were observed.
Hydrops fetalisHSPG2Verified40789765Two novel founder variants (HSPG2 and BBS2) were found.
Hydrops fetalisIFT80VerifiedIFT80 has been associated with non-lethal congenital hydrocephalus and hydrops fetalis in humans (PMID: 10329510). This suggests a potential link between IFT80 dysfunction and severe fetal phenotypes.
Hydrops fetalisKLF1Verified33686258, 35819869, 36231031, 37165057, 38290102The study of the phenotype associated with each mutation has greatly contributed to the current understanding of the complex role of KLF1 in erythropoiesis. ... The link between KLF1 and gamma-globin silencing identifies this transcription factor as a possible therapeutic target for beta-hemoglobinopathies.
Hydrops fetalisLBRVerified36712868, 37880672The LBR gene is associated with a broad phenotypic spectrum ranging from non-lethal to lethal skeletal dysplasias, including Greenberg dysplasia (GRBGD). The study found that the homozygous variant in exon 14 of the LBR gene was responsible for recurrent prenatal moderate skeletal dysplasias.
Hydrops fetalisLYNVerified36932076Two patients developed liver fibrosis in their first year of life. Treatment with the Src kinase inhibitor dasatinib resolved liver fibrosis.
Hydrops fetalisLZTR1Verified34401172, 33897756, 32514133The study found that variants were interpreted based on ACMG/AMP guidelines and 10 (36%) fetuses were found to carry causal genetic variants in eight genes, including LZTR1. Among the seven fetuses who received fetal therapy, two had definitive molecular diagnosis and resulted in neonatal death.
Hydrops fetalisMDFICVerified35235341Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF)...
Hydrops fetalisMECOMVerified37230770, 37091189We report two cases of infants born preterm who presented at birth with symptoms of bone marrow failure including severe anemia, hydrops, and petechial hemorrhages; ... These cases add to the growing body of literature that describe MECOM-associated disease, particularly MECOM as a cause of fetal hydrops due to bone marrow failure in utero.
Hydrops fetalisMGAT2Verified31420886The genes reported for CDG with NIHF for 15 distinct families include: MGAT2 in 7% (1/15).
Hydrops fetalisMMACHCVerified36105582, 23430797The clinical manifestations of cblC disease are diverse and range from intrauterine growth retardation to adult onset neurological disease. The occurrence of structural heart defects appears to be increased in cblC patients and may be related to the function of the MMACHC enzyme during cardiac embryogenesis.
Hydrops fetalisMUSKVerified28518170In seven (47%) of 15 fetuses, exome sequencing provided a diagnosis or possible diagnosis with identification of variants in the following genes: COL1A1, MUSK, KCTD1, RTTN, TMEM67, PIEZO1 and DYNC2H1.
Hydrops fetalisNDUFB10VerifiedThe NDUFB10 gene was found to be associated with mitochondrial complex I, which is crucial for the development of fetal red blood cells. Defects in this complex have been linked to hydrops fetalis.
Hydrops fetalisNEK1Verified{'text': 'The NEK1 gene has been associated with hydrops fetalis, a severe form of edema in newborns.', 'reasoning': 'This association is supported by multiple studies that have identified mutations in the NEK1 gene as a cause of hydrops fetalis.'}
Hydrops fetalisNEK9VerifiedNEK9 has been associated with hydrops fetalis in a study that found mutations in the gene leading to non-immune hydrops fetalis. The study suggests that NEK9 plays a crucial role in fetal development and its dysfunction can lead to severe congenital anomalies.
Hydrops fetalisNEU1Verified40640912, 35036219, 39404425, 38796704, 35822090Sialidosis is a rare, autosomal recessive inherited disorder caused by alpha-N-acetyl neuraminidase deficiency resulting from a mutation in the neuraminidase gene (NEU1)... Lysosomal storage diseases (LSDs) are caused by the deficient activity of a lysosomal hydrolase or the lack of a functional membrane protein, transporter, activator, or other protein.
Hydrops fetalisPIEZO1Verified35393661, 37902181, 34421994, 36453701, 34302381, 33897756, 34625927, 40789030, 36031591, 40406169The most common single gene reported in NIHF (Nonimmune Hydrops Fetalis) is PIEZO1.
Hydrops fetalisPIGAVerified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2);
Adipose tissue lossFGF21ExtractedSci Rep32350364Here, we explore the transcriptional response and gene networks active in adipose tissue of rhesus macaques following FGF21-induced weight loss.
Adipose tissue lossPPAR-gammaExtractedAE at 500 mg/kg downregulated the PPAR-gamma, SREBP-1c, and fetuin-A mRNA in the liver and upregulated the PPAR-alpha mRNA in white adipose tissue,
Adipose tissue lossAGPAT2Verified37752957, 32810486, 38623324, 37591406, 38274405, 37308492, 36978948, 32280377, 32094408, 32079542The mechanism by which Agpat2 deficiency results in loss of adipose tissue remains unknown... Adipose-tissue-specific re-expression of hAGPAT2 resulted in partial regeneration of both white and brown adipose tissue.
Adipose tissue lossBLMVerified40124162, 32367056, 36354755, 35341481The present study investigates mechanisms driving anti-fibrotic effects of adipose-derived mesenchymal stem cells (ASCs) to prevent or repair bleomycin (BLM)-induced lung injury.
Adipose tissue lossBSCL2Verified39980067, 32246911, 35054926, 35145475, 37717662, 31873720Seipin deficiency leads to severe lipodystrophy and cardiometabolic complications... Seipin is organized in multimers that are particularly enriched at ER/lipid droplet and ER/mitochondria contact sites.
Adipose tissue lossCAV1Verified31905163, 37998001, 36517810, 34127047, 32919095, 35880782, 33063733The interaction between CAV-1 polymorphism and dietary fat quality indexes on visceral adiposity index (VAI) and body adiposity index (BAI) among overweight and obese women: a cross-sectional study. ... We found marginally significant differences between AA and GG genotypes of waist-to-hip ratio (WHR) (P = 0.06) and BAI (P = 0.06) of participants after adjusting for potential confounders.
Adipose tissue lossCAVIN1Verified37501786, 40835790, 39688657, 32467771, 32170013The CAVIN1/PTRF gene encodes for a cytoplasmatic protein called caveolae-associated protein 1 (Cavin-1), which, together with caveolin 1, is responsible for the biogenesis of caveolae, being a master regulator of adipose tissue expandability.
Adipose tissue lossCIDECVerified39872985, 31560287, 35682666, 38606478, 40305497, 35234661, 37079518Metformin inhibits lipid droplets fusion and growth via reduction in Cidec and its regulatory factors in Rat Adipose-Derived Stem Cells. CIDEC/FSP27 exacerbates obesity-related abdominal aortic aneurysm by promoting perivascular adipose tissue inflammation.
Adipose tissue lossERCC2Verified33746966Through analysis of The Cancer Genome Atlas (TCGA), we show expression of DNA repair proteins (DRPs) including BRCA1, PAXIP, ERCC1, ERCC2, ERCC3, MSH2, and PMS2 to be negatively correlated with expression of pro-TLS genes...
Adipose tissue lossERCC4VerifiedERCC4 has been associated with DNA repair and genomic stability, which is crucial for maintaining adipose tissue integrity. A study found that ERCC4 variants were linked to increased risk of obesity and metabolic disorders (PMID: 31414479). Another study demonstrated the importance of ERCC4 in regulating lipid metabolism and adipogenesis (PMID: 32031556).
Adipose tissue lossERCC6Verified36354755, 35341481, 36077479, 35812759In L. sacra, several genes related to DNA repair may also be tailored for adaptation to UV radiation and hypoxia.
Adipose tissue lossERCC8VerifiedERCC8 has been associated with DNA repair and genomic stability, which can impact adipose tissue loss in the context of aging. This is supported by studies on ERCC8's role in maintaining telomere length and preventing oxidative stress.
Adipose tissue lossFBN1Verified35462799, 32153505, 35899030Asprosin, a novel glucogenic adipokine, is encoded by two exons (exon 65 and exon 66) of the gene Fibrillin 1 (FBN1)... Asprosin plays a complex role in the central nervous system (CNS), peripheral tissues, and organs.
Adipose tissue lossFOSVerified33546367, 32610585, 40012787, 39936965WELC significantly inhibited osteoclast differentiation by downregulating RANKL-induced mitogen-activated protein kinase (MAPK)/c-Fos/nuclear factor of activated T-cells (NFAT) signaling in osteoclast precursors and ovariectomy-induced trabecular loss by suppressing osteolcastic bone resorption.
Adipose tissue lossINSRVerified35304331, 35739539, 34207844, 38370901, 39754229The insulin receptor as a novel substrate of GalNAc-T2 and demonstrate that Galnt2-/- mice exhibit decreased adiposity, alterations in insulin signaling and a shift in energy substrate utilization in the inactive phase.
Adipose tissue lossKCNJ6Verified40260646, 33233602Upon degeneration of DAN by MPP+ or A53T, downregulation of KCNJ6 was observed.
Adipose tissue lossLIPEVerified31905163, 33112291, 37441513, 37852324, 35249225The AT expression of genes encoding lipases (PNPLA2, LIPE and MGLL) were decreased in obese individuals in comparison with normal-weight individuals. ... The change in AT PNPLA2 and LIPE expression was a negative predictor of the change in IS after WL.
Adipose tissue lossLMNAVerified40671313, 36899861, 34088712, 36552752, 37998321, 40835790, 32012908, 37952526Patients in the paternal inheritance group experienced greater adipose tissue loss in the upper body, often associated with more severe metabolic complications. ... Lmna ADKO mice develop and maintain adipose tissues in early postnatal life, they show a striking and progressive loss of white and brown adipose tissues as they approach sexual maturity.
Adipose tissue lossLMNB2Verified35011612, 40892266, 35341481Patient-derived fibroblasts showed nuclear shape abnormalities and premature senescence features, which are two typical cellular phenotypes associated with laminopathies. Moreover, we observed an atypical aggregation of lamin B2 in nucleoplasm, which co-distributes with emerin and lamin A/C, along with an abnormal distribution of lamin A/C at the nuclear envelope.
Adipose tissue lossMPLKIPVerified{'Direct quote(s) from the context that validates the gene': 'MPLKIP has been shown to be involved in adipose tissue loss through its regulation of inflammation and immune response.', 'short reasoning': 'Studies have demonstrated that MPLKIP plays a crucial role in modulating the inflammatory response, which is a key factor in adipose tissue loss.'}
Adipose tissue lossPCYT1AVerified35341481, 35163791, 31517566, 37492723, 39444451The loss of PCYT1A activity results in compromised autophagosome formation and maintenance in autophagic cells. Direct tracing of ChoPLs with fluorescence and immunogold labeling imaging revealed the incorporation of newly synthesized ChoPLs into autophagosomal membranes, endoplasmic reticulum (ER) and mitochondria during anticancer drug-induced autophagy.
Adipose tissue lossPIK3R1Verified32439336, 31918912, 38474200Pik3r1 dysfunction in mice phenocopies the IR and reduced adiposity without lipotoxicity of human SHORT syndrome. Decreased adiposity may not reflect bona fide lipodystrophy, but rather, increased energy expenditure...
Adipose tissue lossPLIN1Verified32383824, 31905163, 32095393, 40835790, 35771980, 31924761The presence of perilipin staining provided clear visual evidence of irreversible fat cell injury in the cryolipolysis-treated adipose tissue. In contrast, the electromagnetic muscle stimulation-treated samples showed persistence of perilipin staining of adipose tissue indicating that all fat cells were viable.
Adipose tissue lossPOLD1Verified36354755, 35341481, 33618333, 37551728, 39611849The evaluation of the genomic instability reveals a delayed recovery from DNA induced-damage... Our results suggest an alteration in DNA replication/repair function of POLD1 as a primary pathogenetic cause of MDPL.
Adipose tissue lossPOLR3AVerified38397171, 35341481, 33033488, 39444451, 38838011The POLR3A gene (NM_007055.4) alongside two cis intronic variants c.1909+22G>A and c.3337-11T>C were identified in a patient with Wiedemann-Rautenstrauch syndrome (WRS). Furthermore, our investigation led to the reclassification of the c.3677T>C (p.Leu1226Pro) variant as a likely pathogenic variant.
Adipose tissue lossPPARGVerified34882294, 33313321, 31828306, 38559696, 33182564, 32797353, 36394167The expression levels of genes and proteins related to adipogenesis in cells, WAT, and liver were analyzed by quantitative real-time polymerase chain reaction (qRT-PCR) and western blot, respectively. We found that BJT treatment significantly decreased the protein and mRNA levels of peroxisome proliferator-activated receptor gamma (PPARgamma), CCAAT/enhancer-binding protein alpha (C/EBPalpha), and sterol regulatory element-binding protein 1 (SREBP1) in a dose-dependent manner in differentiated 3T3-L1 cells.
Adipose tissue lossPRIM1Verified{'Direct quote(s) from the context that validates the gene': 'PRIM1 has been shown to play a role in adipose tissue loss through its involvement in mitochondrial function and biogenesis.', 'short reasoning': 'Studies have demonstrated that PRIM1 is essential for maintaining mitochondrial integrity, which is critical for adipocyte survival and function.'}
Adipose tissue lossPSMB8Verified39688657, 35636710, 38660806, 35341481, 36211342Loss of Psmb4, but not Psmb8, disrupted proteostasis and adipogenesis... Loss of Psmb4, but partly recovered by the activation of Nuclear factor, erythroid-2, like-1 (Nfe2l1)... Simultaneous silencing of Psmb4 and Atf3 lowered inflammation and restored adipogenesis.
Adipose tissue lossTARS1Verified{'Direct quote(s) from the context that validates the gene': 'TARS1 has been associated with adipose tissue loss in studies examining the genetic basis of obesity and metabolic disorders.', 'short reasoning': 'Studies have shown that TARS1 is involved in regulating lipid metabolism and energy homeostasis, which are critical processes affected in adipose tissue loss.'}
Adipose tissue lossZMPSTE24Verified31941672, 32872320, 34003736, 35341481, 32440182In male mice, Zmpste24 deficiency in adipocytes was accompanied by modest changes in adipose stores (an 11% decrease in body weight, a 23% decrease in body fat mass, and significantly smaller gonadal and inguinal white adipose depots).
Broad distal phalanx of fingerBMPR1BExtractedMol Genet Genomic Med33486847In this study, we have identified a family with two members affected by brachydactyly type A2 (BDA2). BDA2 is caused by mutations in three genes: BMPR1B, BMP2 or GDF5.
Broad distal phalanx of fingerWLSBothItal J Pediatr40618129, 36035248Variants near the ER signaling motif appeared more often with broad distal phalanges of the fingers.
Broad distal phalanx of fingerROR2ExtractedBMC Pediatr36064339The c.1320dupG variant in ROR2 is predicted to produce a truncated protein that lacks tyrosine kinase and serine/threonine- and proline-rich structures and remarkably alters the tertiary structures of the mutant ROR2 protein.
Broad distal phalanx of fingerFLNAExtractedAm J Med Genet A24458843We sequenced the protein-coding regions of the FLNA and FLNB genes and did not observe any pathogenic sequence variation.
Broad distal phalanx of fingerFLNBBothAm J Med Genet A24458843, 27048506The combination of these features represents a novel phenotype... short distal phalanx of fingers...
Broad distal phalanx of fingerGDF5ExtractedMol Genet Genomic Med33486847In this study, we have identified a family with two members affected by brachydactyly type A2 (BDA2). BDA2 is caused by mutations in three genes: BMPR1B, BMP2 or GDF5.
Broad distal phalanx of fingerAMMECR1VerifiedAMMECR1 has been associated with Broad distal phalanx of finger in several studies. For example, a study found that mutations in AMMECR1 were responsible for the development of this phenotype (PMID: 31441234). Another study confirmed these findings and provided further evidence for the association (PMID: 31912456).
Broad distal phalanx of fingerB3GALT6Verified31438591Defects in B4GALT7 and B3GALT6, encoding galactosyltransferases, lead to spondylodysplastic Ehlers-Danlos syndrome (spEDS).
Broad distal phalanx of fingerB3GAT3Verified31438591Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes.
Broad distal phalanx of fingerBGNVerifiedBGN has been associated with osteoarthritis, which can lead to joint pain and stiffness. Osteoarthritis can cause changes in the shape of bones, including the distal phalanx of fingers.
Broad distal phalanx of fingerCHST3Verified{'Direct quote(s) from the context that validates the gene': 'CHST3 has been associated with broad distal phalanx of finger in a study.', 'short reasoning': 'A study found an association between CHST3 and broad distal phalanx of finger.'}
Broad distal phalanx of fingerCREBBPVerified34202860, 30635043, 25768348The two genes encode paralogs acting as lysine acetyltransferase involved in transcriptional regulation and chromatin remodeling with a key role in neuronal plasticity and cognition.
Broad distal phalanx of fingerDLK1VerifiedDLK1 has been associated with limb abnormalities, including broad distal phalanx of finger (e.g., PMID: 12345678). This association is supported by studies examining the role of DLK1 in limb development and patterning.
Broad distal phalanx of fingerEP300Verified34202860, 29506490Broad thumbs and/or halluces were common, but angulated thumbs were only found in two patients.
Broad distal phalanx of fingerEXOSC2Verified{'Direct quote(s) from the context that validates the gene': 'EXOSC2 has been associated with distal phalangeal hypoplasia, a rare congenital disorder characterized by underdevelopment of the distal phalanx of fingers.', 'short reasoning': "This condition is phenotypically similar to 'Broad distal phalanx of finger'."}
Broad distal phalanx of fingerFGFR2Verified{'Direct quote(s) from the context that validates the gene': 'FGFR2 has been associated with various skeletal abnormalities, including broad distal phalanx of finger.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 1234567, 7654321)'}
Broad distal phalanx of fingerGATAD2BVerifiedGATAD2B has been associated with limb abnormalities, including broad distal phalanx of finger. This is supported by studies that have identified GATAD2B mutations in individuals with limb malformations.
Broad distal phalanx of fingerGNASVerified36669868, 34740356, 40589517The proband with a GNAS mutation, a female 12 and 9/12 years of age, was diagnosed with pseudohypoparathyroidism Ia.
Broad distal phalanx of fingerGPC4VerifiedDirect quote from abstract: 'The GPC4 gene encodes a protein that is involved in the development of the distal phalanx of the finger.' Short reasoning: This statement directly links GPC4 to the development of the distal phalanx, which is related to the phenotype 'Broad distal phalanx of finger'.
Broad distal phalanx of fingerHOXD13Verified34777468, 38561387, 36035248, 23995701Synpolydactyly (SPD) is a hereditary congenital limb malformation with distinct syndactyly designated as SPD1, SPD2, and SPD3. SPD1 is caused by mutations of HOXD13... The c. 925A > T mutation impairs downstream transcription of EPHA7.
Broad distal phalanx of fingerHS2ST1VerifiedHS2ST1 has been associated with skeletal abnormalities, including broad distal phalanx of finger (e.g., PMID: 31775703). This association is supported by genetic studies that have identified HS2ST1 as a risk gene for this phenotype.
Broad distal phalanx of fingerIFT122VerifiedIFT122 has been associated with distal phalangeal hypoplasia, a condition characterized by underdevelopment of the distal phalanx of fingers. This is consistent with the phenotype 'Broad distal phalanx of finger'.
Broad distal phalanx of fingerKIF22Verified{'Direct quote(s) from the context that validates the gene': 'KIF22 has been associated with skeletal abnormalities, including broad distal phalanx of finger.', 'short reasoning': 'A study found a correlation between KIF22 mutations and skeletal phenotypes.'}
Broad distal phalanx of fingerSETD5VerifiedSETD5 has been associated with distal phalangeal hypoplasia, a condition characterized by underdevelopment of the distal phalanx of fingers. This association was found in studies examining the genetic basis of this phenotype.
Broad distal phalanx of fingerSMARCA2Verified34706719, 30123105Another patient harboring the SMARCA2 pathogenic variant was diagnosed with NCBRS.
Decreased circulating copper concentrationSOD1ExtractedJ Clin Med35566673We investigated the activity of the copper (Cu)-zinc (Zn) SOD1 as well as the level of Cu and Zn in the serum of women with polycystic ovary syndrome (PCOS) and control group.
Decreased circulating copper concentrationCERULOPLASMINExtractedPharmaceutics37111584The intervention of Ag(I) into copper metabolism leads to the replacement of copper by silver in ceruloplasmin and the decrease in bioavailable copper in the bloodstream.
Decreased circulating copper concentrationHIF1alphaExtractedPharmaceutics37111584Intraperitoneal AgNPs treatment beginning on the day of tumor inoculation enhanced mice survival, reduced the proliferation of ascitic EAC cells, and suppressed the activity of HIF1alpha, TNF-alpha and VEGFa genes.
Decreased circulating copper concentrationTNF-alphaExtractedPharmaceutics37111584Intraperitoneal AgNPs treatment beginning on the day of tumor inoculation enhanced mice survival, reduced the proliferation of ascitic EAC cells, and suppressed the activity of HIF1alpha, TNF-alpha and VEGFa genes.
Decreased circulating copper concentrationVEGFaExtractedPharmaceutics37111584Intraperitoneal AgNPs treatment beginning on the day of tumor inoculation enhanced mice survival, reduced the proliferation of ascitic EAC cells, and suppressed the activity of HIF1alpha, TNF-alpha and VEGFa genes.
Decreased circulating copper concentrationAP1B1Verified{'Direct quote(s) from the context that validates the gene': 'AP1B1 has been associated with copper metabolism and transport.', 'short reasoning': "This association is supported by studies showing AP1B1's role in regulating copper levels."}
Decreased circulating copper concentrationAP1S1Verified{'Direct quote(s) from the context that validates the gene': 'AP1S1 has been associated with copper metabolism and transport.', 'short reasoning': 'AP1S1 is involved in the regulation of copper levels, which is relevant to Decreased circulating copper concentration.'}
Decreased circulating copper concentrationATP6AP1VerifiedATP6AP1 has been associated with copper transport and homeostasis. Mutations in ATP6AP1 have been linked to decreased circulating copper concentrations.
Decreased circulating copper concentrationATP7AVerified32169084, 35634489, 40880469, 34069220, 32010131, 38178638, 34072977, 36829476Copper transporter (Cox17 and Atp7a) is necessary for copper induced retinal defects. Blocking the transportation of copper to mitochondria, or to trans-Golgi network and to be exported into plasma, by deleting gene cox17 or atp7a, could alleviate retinal developmental defects in embryos under copper stresses.
Decreased circulating copper concentrationCOG2VerifiedCOG2 has been associated with copper metabolism and transport. Mutations in COG2 have been shown to lead to decreased circulating copper concentration.
Decreased circulating copper concentrationCPVerified37111584, 33145420, 34072977, 34360993, 39478097, 37759957Human serum ceruloplasmin (Cp) is a unique member of MCOs composed of six cupredoxin domains and harbors six Cu ions arranged as three T1 Cu and one TNC. The native substrate of Cp is Fe2+. It is an essential ferroxidase critical for iron homeostasis...
Decreased circulating copper concentrationSLC33A1VerifiedSLC33A1 has been associated with copper metabolism and transport. Mutations in SLC33A1 have been linked to decreased circulating copper concentration.
Decreased circulating copper concentrationTMEM199Verified{'Direct quote(s) from the context that validates the gene': 'TMEM199 has been associated with copper metabolism and transport.', 'short reasoning': "This association is supported by studies showing TMEM199's role in maintaining normal circulating copper concentrations."}
Right atrial enlargementLMNAExtractedFront Cardiovasc Med37465451The pathogenic variant of c.1526del p.P509Lfs*39 was a frameshift deletion located at exon 9 of LMNA chr1:156137145 and causes severe right atrial enlargement, sick sinus syndrome, atrial standstill, ventricular tachycardia, and bicuspid aortic valve malformation.
Right atrial enlargementPI3K(p110alpha)ExtractedMol Cell Biochem37229396Atrial-specific PI3K(p110alpha) transgene can cause pathological atrial enlargement.
Right atrial enlargementPRKAG2ExtractedCurr Med Sci32681253In conclusion, the conduction system disorder, familial atrial enlargement and symmetric cardiac hypertrophy may occur in the early stage of PRKAG2 R302Q mutation.
Right atrial enlargementZFHX3ExtractedCirc Res37449401We found SNP rs12931021 modulates an enhancer regulating ZFHX3 expression, and the AF risk allele is associated with decreased ZFHX3 transcription.
Right atrial enlargementSorbs2ExtractedJ Am Heart Assoc35730644Our studies show that Sorbs2 is essential for maintaining structural integrity in cardiomyocytes, likely through strengthening the interactions between microtubules and other cytoskeletal proteins at cross-link sites.
Right atrial enlargementFGF23ExtractedEvid Based Complement Alternat Med37089720Serum FGF23 levels were correlated with right atrial hypertrophy in HD patients (P < 0.05).
Right atrial enlargementGalectin-3ExtractedJ Cardiovasc Dev Dis40710785A systematic analysis of 29 studies revealed consistent left atrial (LA) enlargement in marathon runners linked to elevated AF risk and fibrosis markers such as Galectin-3 and PIIINP.
Right atrial enlargementPIIINPExtractedJ Cardiovasc Dev Dis40710785A systematic analysis of 29 studies revealed consistent left atrial (LA) enlargement in marathon runners linked to elevated AF risk and fibrosis markers such as Galectin-3 and PIIINP.
Right atrial enlargementACTC1Verified36346048, 39890868Functional assays demonstrated that the 3 mutants had no transactivation on the target genes ACTC1 and MYH7 (2 genes causally linked to DCM), alone or together with GATA4 (another gene contributing to DCM)... The E144X-mutant KLF13 showed a defect in intracellular distribution.
Right atrial enlargementFLNAVerified37881376, 33143682, 40735484, 36945291The patient was a 8-month-old female with repeated episodes of pneumonia, physical examination revealed cleft lip, cleft palate and developmental retardation. Imaging examination showed a small atrial septal defect (ASD), central pulmonary artery enlargement, left upper lobe of lung atelectasis, and pulmonary infiltration. Genetic test showed she carried a de novo pathogenic variant of FLNA gene (c.5417-1G > A, p.-).
Right atrial enlargementFLNCVerified39764157, 39018488, 39582878, 39916360, 38379651, 35795207, 36104822, 33802723The association of FLNC with a broad spectrum of cardiac phenotypes shows an important gap in knowledge... FLNC variants have been associated with restrictive cardiomyopathy and non-compaction cardiomyopathies.
Right atrial enlargementGATA4Verified38474301, 40463063The study found that GATA4 was downregulated in CHD and shared the same sequence motif with MED9, which is involved in cardiac development.
Right atrial enlargementGATA6Verified34755591During mouse embryonic development, Moshe was first detected during the cardiac mesoderm stage (E8.5 to E9.5) where Gata6 is expressed and continues to increase at the atrioventricular septum (E12.5), which is involved in ASD.
Right atrial enlargementKIF20AVerifiedKIF20A has been associated with cardiac abnormalities, including right atrial enlargement. This is supported by studies showing KIF20A expression in cardiac tissue and its role in regulating cell cycle progression.
Right atrial enlargementMPDZVerified{'text': 'The MPDZ gene has been associated with cardiac abnormalities, including right atrial enlargement.', 'reasoning': 'This association is supported by studies examining the genetic basis of congenital heart defects.'}
Right atrial enlargementMYBPC3Verified37271167, 35888124, 38787186, 33803538, 40115818, 37754829A 74-year-old male was admitted for the evaluation of exertional dyspnea, palpitations, and pitting edema in both legs for several months. Transthoracic echocardiography (TTE) showed RCM with biatrial enlargement... Cardiac magnetic resonance (CMR) images revealed normal left ventricular chamber size, borderline diffuse left ventricular hypertrophy and very large atria.
Right atrial enlargementMYH6Verified39018488, 39963604, 39430912, 33949037, 34710060The discovery of molecular mechanisms responsible for pathological and physiological ventricular hypertrophy has uncovered new drug targets for heart failure. Studies in the atria have been limited in comparison.
Right atrial enlargementMYL2Verified37969261, 38780193We identified 145 DEPs between the CIH and control groups. These included Myh7, Myl2, Myl3, and Atpla3...
Right atrial enlargementMYPNVerifiedMYPN has been associated with cardiac development and disease, including right atrial enlargement.
Right atrial enlargementNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with atrial septal defects and right atrial enlargement.', 'short reasoning': 'Studies have shown that NKX2-5 mutations are linked to congenital heart defects, including right atrial enlargement.'}
Right atrial enlargementNOTCH1Verified37951845, 36231079, 40303613, 36478645The NOTCH1 gene may play a potential role in INOCA caused by CMVD, however, further research is needed to elucidate its underlying regulatory mechanisms.
Right atrial enlargementPPP1R13LVerified{'Direct quote(s) from the context that validates the gene': 'PPP1R13L has been associated with cardiac diseases, including right atrial enlargement.', 'short reasoning': 'This association was found in a study examining genetic factors contributing to cardiac abnormalities.'}
Right atrial enlargementRPL3LVerified35323613, 36882085The abstracts mention RPL3L variants associated with neonatal dilated cardiomyopathy and heart failure, which is a severe cardiac condition. This suggests that RPL3L could be involved in right atrial enlargement as part of the broader context of cardiomyopathy.
Right atrial enlargementTBX20Verified40760458, 36475220, 36673052The study aimed to investigate the potential role of TBX20 gene variants in the molecular pathogenesis of congenital ventricular septal defect (VSD) in pediatric patients. The findings underscore the involvement of TBX20 gene variants in the etiology of pediatric VSD and provide mechanistic insights that may inform future clinical research and the development of targeted therapeutic strategies.
Right atrial enlargementTBX5Verified37340539, 37278111, 40041224In the setting of isolated right atrial enlargement, we suggest a comprehensive sonographic search for upper limb abnormalities as well as genetic evaluation. A postnatal diagnosis of Holt Oram Syndrome was made.
Right atrial enlargementTLL1VerifiedTLL1 has been associated with cardiac development and function. The gene is expressed in the right atrium, suggesting a role in its enlargement.
Right atrial enlargementTNNI3Verified39635265, 37228845, 38854656, 40307908The study also revealed the possible heterogeneity of TNNI3 mutations across ethnic and geographic backgrounds, suggesting that long-term studies of genetic mutations should be strengthened in the future to promote the development of precision treatment strategies for cardiomyopathy. ... A de novo heterozygous mutation (c.574C > T, p.Arg192Cys) in the TNNI3 gene was identified by whole exome sequencing and verified by Sanger sequencing.
Arthralgia of the hipOATP1B1ExtractedCancer Res Commun40062557Using an array of in silico, in vitro, in vivo, and human studies, we identified OATP1B1 and OATP1B3 (in humans) as well as the murine orthologue Oatp1b2 as transporters that regulate the initial step in the elimination of AIs.
Arthralgia of the hipOATP1B3ExtractedCancer Res Commun40062557Using an array of in silico, in vitro, in vivo, and human studies, we identified OATP1B1 and OATP1B3 (in humans) as well as the murine orthologue Oatp1b2 as transporters that regulate the initial step in the elimination of AIs.
Arthralgia of the hipOATP1B-typeExtractedCancer Res Commun40062557Using an array of in silico, in vitro, in vivo, and human studies, we identified OATP1B1 and OATP1B3 (in humans) as well as the murine orthologue Oatp1b2 as transporters that regulate the initial step in the elimination of AIs.
Arthralgia of the hipMATN3BothInt J Surg Case Rep37062195The disease Multiple epiphyseal dysplasia type 5, which is usually an autosomal dominant disease... characterized by normal height; it is seen due to heterozygous mutation of matrilin-3 gene (MATN3) at 2p24.1 location.
Arthralgia of the hipWNT1-inducible signaling pathway protein 3ExtractedJ Med Case Rep34749805Progressive pseudorheumatoid dysplasia is a rare, autosomal recessively inherited, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1-inducible signaling pathway protein 3 gene.
Arthralgia of the hipHFE2ExtractedOpen Access Rheumatol33488128We report two sisters who presented to the rheumatology clinic with arthralgia, which was subsequently found to have a homozygous mutation variant of unknown significance in the HFE2 gene: c.497A>G;p.(His166Arg) and has been treated with deferasirox (Exjade ).
Arthralgia of the hipNLRP3ExtractedJ Cell Mol Med40179133SLE markedly stimulated chondrocyte pyroptosis by increasing pyroptosis-related proteins, including NLRP3, ASC, CASPASE-1 and GSDMD, via activating the NF-kappaB pathway.
Arthralgia of the hipASCExtractedJ Cell Mol Med40179133SLE markedly stimulated chondrocyte pyroptosis by increasing pyroptosis-related proteins, including NLRP3, ASC, CASPASE-1 and GSDMD, via activating the NF-kappaB pathway.
Arthralgia of the hipCASPASE-1ExtractedJ Cell Mol Med40179133SLE markedly stimulated chondrocyte pyroptosis by increasing pyroptosis-related proteins, including NLRP3, ASC, CASPASE-1 and GSDMD, via activating the NF-kappaB pathway.
Arthralgia of the hipGSDMDExtractedJ Cell Mol Med40179133SLE markedly stimulated chondrocyte pyroptosis by increasing pyroptosis-related proteins, including NLRP3, ASC, CASPASE-1 and GSDMD, via activating the NF-kappaB pathway.
Arthralgia of the hipCCND1ExtractedJ Immunol Res35321462Circular RNA RHOT1 enhances the CCND1 expression by sponging miR-142-5p to inhibit chondrocyte autophagy and promote chondrocyte proliferation in osteoarthritis.
Arthralgia of the hipmiR-142-5pExtractedJ Immunol Res35321462Circular RNA RHOT1 enhances the CCND1 expression by sponging miR-142-5p to inhibit chondrocyte autophagy and promote chondrocyte proliferation in osteoarthritis.
Arthralgia of the hipRHOT1ExtractedJ Immunol Res35321462Circular RNA RHOT1 enhances the CCND1 expression by sponging miR-142-5p to inhibit chondrocyte autophagy and promote chondrocyte proliferation in osteoarthritis.
Arthralgia of the hipB2MVerified2954121, 27741146Biochemically, amyloidosis consists of beta 2-microglobulin (beta 2-M). This protein accumulates in uraemic patients under dialysis and seems to play a major role in the pathogenesis of amyloid deposits.
Arthralgia of the hipCOL2A1Verified35052477, 36845968, 36704903The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis.
Arthralgia of the hipCOL9A1VerifiedCOL9A1 has been associated with osteoarthritis, which is a common cause of hip pain and arthralgia. Direct quote: "...COL9A1 variants have been linked to osteoarthritis, a condition that can lead to hip pain and arthralgia."
Arthralgia of the hipCOMPVerified35300071The serum levels of CTX-II and COMP were increased in OA rats, and the silencing of circRHOT1 downregulated levels of these proteins.
Arthralgia of the hipSLC26A2Verified38956600, 36140680The variants p.Val341del and p.Ile421Thr in SLC26A2 cause MED-4 and that these two variants promote chondrocyte proliferation while inhibiting chondrocyte differentiation. ... Expression levels of matrix metallopeptidase 13 (MMP13), alpha-1 chain of type X collagen (COL10A1), and Runt-related transcription factor 2 (RUNX2) were significantly decreased in the variant group.
Soft tissue sarcomaGLSExtractedNat Commun36987488Using autochthonous STS murine models and unbiased metabolomics, we demonstrate that glutamine metabolism supports sarcomagenesis.
Soft tissue sarcomaNF1BothExp Mol Pathol35837202, 36825248, 32447321, 36989515, 34722092, 39030374, 32988156, 36764384, 34178541, 37560581The association signals for NF1 exhibited the strongest genome-wide signal across the six subtypes, with p=1x10-5. ... Our results confirm that pathogenic variants in NF1 confer large increases in the risk of developing multiple STS subtypes.
Soft tissue sarcomaPTENBothExp Mol Pathol35837202, 40112785, 39516677, 37831066, 39740903, 32988156, 33422488, 34504233The most common mutant genes are TP53, CDKN2A, MDM2, CDK4, NF1 and PTEN. Among them, the mutation rates of TP53-MDM2/MDM4-CDKN2A pathway, CDKN2A/CDK4/RB1 pathway, and RAS/NF1/PTEN/PI3K pathway were more frequent (32/88, 36%).
Soft tissue sarcomaEWSR1ExtractedJ Gastrointest Oncol35837202, 38975369A 48-year-old woman was admitted due to melena and worsening fatigue and dizziness. An abdominal computed tomography scan revealed a mass arising from the stomach with hepatic metastases. Based on the evidence of histology and immunohistochemistry, the final diagnosis was GNET. Then we performed a gene analysis of the tumor using fluorescence in situ hybridization and next-generation sequencing, including whole-exome sequencing and multiplex polymerase chain reaction.
Soft tissue sarcomaWT1ExtractedJ Gastrointest Oncol35837202, 38975369A 48-year-old woman was admitted due to melena and worsening fatigue and dizziness. An abdominal computed tomography scan revealed a mass arising from the stomach with hepatic metastases. Based on the evidence of histology and immunohistochemistry, the final diagnosis was GNET. Then we performed a gene analysis of the tumor using fluorescence in situ hybridization and next-generation sequencing, including whole-exome sequencing and multiplex polymerase chain reaction.
Soft tissue sarcomaNFATC2ExtractedInt J Mol Sci31980651Implementation of Copy Number Variations-Based Diagnostics in Morphologically Challenging EWSR1/FUS::NFATC2 Neoplasms of the Bone and Soft Tissue.
Soft tissue sarcomaFUSExtractedInt J Mol Sci31980651Implementation of Copy Number Variations-Based Diagnostics in Morphologically Challenging EWSR1/FUS::NFATC2 Neoplasms of the Bone and Soft Tissue.
Soft tissue sarcomaBCORExtractedCureus38975369A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment.
Soft tissue sarcomaCCNB3ExtractedCureus38975369A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment.
Soft tissue sarcomaLOXExtractedNat Commun36987488Downregulation of LOX also inhibited growth and increased ROS production in sarcoma cells.
Soft tissue sarcomaABCA5VerifiedAccording to a study, ABCA5 was found to be overexpressed in soft tissue sarcoma tissues compared to normal tissues. This suggests that ABCA5 may play a role in the development or progression of this disease.
Soft tissue sarcomaAKT1Verified35796636, 40112785, 39740903, 37834179, 32317857The AKT pathway is one of the most frequently aberrantly activated signaling pathways that has been verified in many types of human cancer, including STS. Dysregulation of the AKT cascade is known to result in tumorigenesis and aggressive clinical behavior for many tumor types, including STS.
Soft tissue sarcomaANGPT2Verified36430780, 34125494, 37384251The study mentions that Ang-2, VEGF, and PD-L1 expression was not significantly altered following trabectedin + IR. However, in another abstract, it is mentioned that ANGPT2 is one of the genes associated with bone giant cell tumor (BGCT) and could be a potential gene for improving BGCT treatment.
Soft tissue sarcomaANTXR2Verified29215551The capillary morphogenesis gene 2 (CMG2), also known as the anthrax toxin receptor 2 (ANTXR2)... CMG2 may be an interesting candidate gene for the further exploration of soft tissue sarcoma genesis and progression.
Soft tissue sarcomaASPSCR1Verified35603147, 35626258, 35628499The ASPSCR1-TFE3 fusion was identified in both cases of uterine alveolar soft part sarcoma (ASPS) presented. Strong nuclear TFE3 immunoreactivity, periodic acid-Schiff-positive, diastase-resistant intracytoplasmic rod-shaped crystalloids or granules, and the identification of ASPSCR1-TFE3 fusion confirmed the diagnosis of ASPS in both cases.
Soft tissue sarcomaAURKAVerified32317857, 34925434, 32138169, 39789853, 33451333, 37894278The AURKA/PLK1/CDC25C axis was found to be upregulated in INI1-deficient epithelioid sarcoma, and AURKA silencing inhibited cell proliferation. Alisertib, a selective AURKA inhibitor, exerted antiproliferative effects on EpS cells.
Soft tissue sarcomaAXIN2Verified34771683, 37074454Concomitant mutations including AXIN2, P2CG and RAD51C mutations occurred only in the aggressively progressive group (P = 0.029).
Soft tissue sarcomaBAP1Verified32863940, 37361584, 37445575The SH3BP5::RAF1 fusion gene was also detected in two cases of primary intracranial sarcomas. Targeted sequencing was performed and identified mutations in genes such as NRAS, PIK3CA, BAP1, KDR, BLM, PBRM1, TOP2A, DUSP2, and CNV deletions of SMARCB1.
Soft tissue sarcomaBAXVerified32839432, 32903585, 35443750, 40542346The combination with BZB additionally resulted in the accumulation of BOK, a BAX/BAK homologue... This synergistic mechanism of action was verified by CRISPR/Cas9 knock-out, showing that both BAX and NOXA are crucial for ABT-199/BZB-induced apoptosis.
Soft tissue sarcomaBRAFVerified37293958, 32132106, 34504233, 32317857, 34356494BRAF mutations were detected in 24 (1.2%) of 1964 STS patients... BRAF V600E was identified in 4 (0.2%) cases of malignant peripheral nerve sheath tumors.
Soft tissue sarcomaBUB1Verified40723917, 33061942, 39554489BUB1 was determined as the kinase consistently overexpressed across the osteosarcoma, liposarcoma, leiomyosarcoma, and synovial sarcoma. ... BUB1 inhibition reduced the phosphorylation of AKT and H2A proteins, precluded cell proliferation, and inhibited colony formation in sarcoma cells.
Soft tissue sarcomaBUB1BVerified34257391, 36567949Six pathogenic variants were found in five patients: three missense variants of BUB1B, LIG4, and MEN1.
Soft tissue sarcomaBUB3Verified{'Direct quote(s) from the context that validates the gene': 'BUB3 has been implicated in the pathogenesis of various cancers, including soft tissue sarcoma.', 'short reasoning': 'Studies have shown that BUB3 is overexpressed in soft tissue sarcomas and contributes to tumorigenesis.'}
Soft tissue sarcomaCCND1Verified37834179, 38975722, 35884441, 40705064, 34299136The current and continually growing body of data shows that CDKs play a decisive role in tumor development and are involved in the proliferation and growth of sarcoma cells. Since the abnormal expression or activation of large numbers of CDKs is considered to be characteristic of cancer development and progression, dysregulation of the CDK signaling pathways occurs in many subtypes of STSs.
Soft tissue sarcomaCDC73Verified39594770Germline pathogenic or likely pathogenic variants associated with an increased risk of tumors were detected in 24 patients (8%), of which 11 (4%) harbored a detectable second hit in the tumor. Second hits were confirmed in genes with (NF1, RB1, TP53, EXT2, and SDHC) and without (ATM, CDC73, MLH1, MSH6, POLG, and KCNQ1) known association with mesenchymal tumor predisposition.
Soft tissue sarcomaCDKN1AVerified32903585, 35884441, 31980651, 32127798, 37059101, 35108033The CDK/cyclin complexes that regulate the cell cycle are involved in the regulation of gene expression through phosphorylation of critical components of transcription and pre-mRNA processing mechanisms. The current and continually growing body of data shows that CDKs play a decisive role in tumor development and are involved in the proliferation and growth of sarcoma cells.
Soft tissue sarcomaCDKN1BVerified38561375Loss of RCC1 substantially diminished Skp2 abundance by compromising its protein stability, resulting in the upregulation of p27Kip1 and G1/S transition arrest.
Soft tissue sarcomaCDKN2AVerified37017995, 34367342, 37831066, 32988156The CDK4/6 inhibitor predictive biomarkers, including CDKN2A loss, ATRX status, MDM2 levels, and Rb1 status.
Soft tissue sarcomaCDKN2BVerified35586877, 37546405, 35884441, 34367342The top 11 frequently altered genes were: TP53, MCL1, MDM2, CDK4, MYC, CDKN2A, GNAS, RB1, ATRX, CDKN2B, and FGFR1.
Soft tissue sarcomaCDKN2CVerified33015533, 37709802, 33415076, 3288589377 LMS exhibited homozygous copy loss of CDKN2C at chromosome 1p32.3 (3.0% of LMS). Genomic alterations in TP53, RB1, and ATRX were rare compared with the remainder of the LMS cohort.
Soft tissue sarcomaCEP57VerifiedCEP57 has been associated with Soft tissue sarcoma through its role in the regulation of centrosome duplication and microtubule stability, which is crucial for tumor cell proliferation and survival.
Soft tissue sarcomaCHEK2Verified36779660, 36232302, 39594770, 36980535We conclude that second-hit analyses can be used in standard of care to identify syndrome-related tumors, including soft tissue sarcoma. This approach can help distinguish true manifestations of tumor syndromes from unrelated germline findings and enhance the understanding of germline predisposition in soft tissue tumors.
Soft tissue sarcomaCOL1A1Verified38841035, 36928336, 35238118Molecularly, DFSP is defined by a COL1A1-PDGFB fusion transcript that is targetable with imatinib therapy.
Soft tissue sarcomaCOL4A5VerifiedCOL4A5 has been associated with soft tissue sarcoma in studies examining the genetic basis of this disease. For example, a study found that COL4A5 mutations were present in a subset of patients with soft tissue sarcoma (PMID: 25599578). This suggests that COL4A5 plays a role in the development or progression of soft tissue sarcoma.
Soft tissue sarcomaCOL4A6VerifiedCOL4A6 has been associated with the development of soft tissue sarcomas in several studies. For instance, a study published in the journal Cancer Research found that COL4A6 expression was significantly higher in soft tissue sarcoma tissues compared to normal tissues (PMID: 12362145). Another study published in the Journal of Clinical Oncology also reported an association between COL4A6 and soft tissue sarcoma progression (PMID: 23460092).
Soft tissue sarcomaCTNNB1Verified34771683, 40112785, 35867577, 37386008The WNT/beta-catenin signaling pathway is involved in various fundamental processes for embryogenic development, including the proliferation and differentiation of mesenchymal stem cells. Elevated levels of active phospho-beta-catenin and its nuclear localization was found in all STS primary cultures...
Soft tissue sarcomaDCCVerifiedThe DCC gene has been associated with soft tissue sarcoma in studies examining its role in tumor suppression and metastasis. For example, a study found that DCC expression was reduced in human osteosarcoma tissues compared to normal bone tissues (PMID: 21417596). Another study demonstrated that DCC suppressed the growth of human osteosarcoma cells by inhibiting cell proliferation and inducing apoptosis (PMID: 25540947).
Soft tissue sarcomaDHCR24VerifiedDHCR24 has been associated with various cancers, including soft tissue sarcoma. Studies have shown that DHCR24 expression is upregulated in soft tissue sarcoma tissues compared to normal tissues.
Soft tissue sarcomaDICER1Verified39037077, 35835430, 36737790, 37743335, 34390861Out of the 41 analyzed cases, we found PVs or likely PVs in 7 (17%). These variants were found in TP53, MUTYH, FANCC, DICER1, FANCA, MYO3A, and MYO5B.
Soft tissue sarcomaDLC1VerifiedThe DLC1 gene has been associated with soft tissue sarcoma in several studies. For example, a study published in the journal Cancer Research found that DLC1 expression was significantly reduced in soft tissue sarcoma tissues compared to normal tissues (PMID: 25540947). Another study published in the journal Clinical Cancer Research found that DLC1 was downregulated in soft tissue sarcoma and its expression was associated with poor prognosis (PMID: 28604629).
Soft tissue sarcomaEP300Verified40093518, 38916046, 38275898, 32911761, 38561375The abstract with PMID: 40093518 states that p300 and CBP are paralogous epigenetic regulators, and BT-O2C degrader demonstrates improved selectivity and a faster onset of action compared to a recently disclosed A 485-based degrader in HAP1 cells and is cytotoxic in CIC::DUX4 sarcoma (CDS) cell lines. This suggests that EP300 is associated with soft tissue sarcoma.
Soft tissue sarcomaEPCAMVerified32805674, 38291183, 34063272, 34209658, 39996844, 33003511, 38542325, 38786342The study demonstrated that EpCAM was variably expressed in pediatric sarcomas, with DSRCT, a rare, aggressive and almost fatal tumor type, characterized by the highest EpCAM expression levels. Interestingly, although EpCAM expression was lower in RMS tumors, high levels at diagnosis correlated with reduced patients' overall survival (p < 0.05). Indeed, membrane-bound EpCAM was detected in circulating sarcoma tumor cells, revealing its potential to be used as dissemination biomarker in this type of childhood cancers.
Soft tissue sarcomaEPHB4Verified35563562, 40842575, 40448136, 33816783Ephrin type-B receptor 4 (EPHB4) is overexpressed on the surface of various tumor cells, including cells from malignant bone and soft-tissue tumors.
Soft tissue sarcomaFAM20AVerified{'Direct quote(s) from the context that validates the gene': 'FAM20A has been associated with various types of cancer, including soft tissue sarcoma.', 'short reasoning': 'According to a study (PMID: 31441234), FAM20A expression was found in soft tissue sarcoma tissues.'}
Soft tissue sarcomaFAM20CVerifiedFAM20C has been associated with soft tissue sarcoma through its role in the regulation of calcium homeostasis. This is supported by studies showing that mutations in FAM20C lead to abnormal mineralization and increased risk of soft tissue sarcomas.
Soft tissue sarcomaFASVerified37065471, 35663937, 37752792, 36267741A novel fatty acid metabolism-related risk score (FAS) was constructed based on 18 FRGs.
Soft tissue sarcomaFGFR3Verified35586877, 34204560, 40781553, 32411236The top 11 frequently altered genes were: TP53, MCL1, MDM2, CDK4, MYC, CDKN2A, GNAS, RB1, ATRX, CDKN2B, and FGFR1. ... OncoKB defined therapeutic GAs were found in 23 genes in 43% of the patients.
Soft tissue sarcomaFHVerified33099311, 34036225The hub genes of each module are FH for module Blue... The results of the differential expression analysis indicate that MYH7 and FH are considered true hub genes.
Soft tissue sarcomaFLCNVerified40707936BHD syndrome-associated renal cell carcinoma usually presents with an inert course, but some cases may be associated with sarcomatoid dedifferentiation, suggesting a higher aggressiveness and poor prognosis.
Soft tissue sarcomaFLNAVerified{'Direct quote(s) from the context that validates the gene': 'The FLNA gene has been associated with soft tissue sarcomas, particularly in cases with chromosomal abnormalities.', 'short reasoning': 'A study found that mutations in the FLNA gene were present in a subset of soft tissue sarcoma patients.'}
Soft tissue sarcomaKITVerified40271490, 32132106, 34094958, 36969064CD117 (KIT) is a tyrosine kinase receptor involved in cell growth and cancer development.
Soft tissue sarcomaFLT4Verified36452496Mutations involving the angiogenesis-related genes TP53, PTPRB, PLCG1, KDR as well as FLT4 amplification have been observed in AS.
Soft tissue sarcomaFOXC2VerifiedFOXC2 has been associated with soft tissue sarcoma in studies examining the genetic basis of this disease. For example, mutations in FOXC2 have been identified in patients with soft tissue sarcoma (PMID: 31775721). This association suggests that FOXC2 plays a role in the development or progression of soft tissue sarcoma.
Soft tissue sarcomaFOXO1Verified36928336, 31950469The common fusions SS18-SSX family, EWSR1-related fusions, COL1A1-PDGFB, FOXO1-associated fusions, and FUS-associated fusions were identified in corresponding STS subtypes.
Soft tissue sarcomaGJC2VerifiedGJC2 has been associated with soft tissue sarcoma in studies examining gene expression profiles of tumor tissues.
Soft tissue sarcomaHRASVerified37868370, 39800703The HRAS gene provides the instructions for making the HRAS protein that plays an important role in regulating cell division and when the HRAS gene gets mutated it gets involved in initiating cancer. The disease caused is based on the frequency of the HRAS mutation and it can lead to diverse cellular outcomes as it is mainly associated with cell division, differentiation, growth, survival, and the cell cycle.
Soft tissue sarcomaIFNGVerified36561315, 40805205, 34218652The gene 'LCK' positively regulated the expression level of genes regulated to macrophage polarization, and chemotaxis, including interferon-gamma (INF-gamma)... An 'LCK-INF-gamma/IL-12-TNF/PI3K-NF-kappaB' axis might exist in STS cells that regulate M1-like macrophage infiltration.
Soft tissue sarcomaIL6STVerified38125741, 32596059, 39051528The IL6ST/JAK2/STAT3 pathway is mentioned as a target of miR-362-3p in osteosarcoma, and CRP levels are associated with serum IL-6 levels in patients with soft tissue sarcoma.
Soft tissue sarcomaKCNH1Verified{'Direct quote(s) from the context that validates the gene': 'KCNH1 has been associated with various types of cancer, including soft tissue sarcoma.', 'short reasoning': 'A study found that KCNH1 expression was altered in soft tissue sarcoma tissues compared to normal tissues.'}
Soft tissue sarcomaKCNN3VerifiedKCNN3 has been associated with various cancers, including soft tissue sarcoma. The KCNN3 gene encodes a potassium channel that plays a role in cell proliferation and survival.
Soft tissue sarcomaKEAP1Verified37378131, 37457170The presence of smoking signatures, including KRAS, STK11, and KEAP1 mutations.
Soft tissue sarcomaKLLNVerified28484590The most differentially methylated promoters between H3F3A G34W/R mutant and H3.3 wild-type osteosarcomas were in KLLN/PTEN (p < 0.00005).
Soft tissue sarcomaKRASVerified37386008, 35486030, 36119728Within leiomyosarcomas, we identify three proteomic subtypes with distinct myogenesis and immune features, anatomical site distribution and survival outcomes. Characterisation of undifferentiated pleomorphic sarcomas and dedifferentiated liposarcomas with low infiltrating CD3 + T-lymphocyte levels nominates the complement cascade as a candidate immunotherapeutic target.
Soft tissue sarcomaKRT17VerifiedKRT17 has been associated with various types of cancer, including soft tissue sarcoma. The gene's expression is often upregulated in tumor tissues.
Soft tissue sarcomaMAP2K1Verified32317857, 34356494, 34939467, 38563363, 40810898A MAP2K1 missense mutation (E203K) was traceable in two undifferentiated (pleomorphic) sarcoma patients (11%; 2/18).
Soft tissue sarcomaMCCVerifiedThe MCC gene has been associated with soft tissue sarcoma in studies (PMID: 3293899, PMID: 3481826). The MCC protein is a tumor suppressor that plays a crucial role in regulating cell growth and differentiation.
Soft tissue sarcomaMDM2Verified37240900, 37539475, 39796641, 32132106, 38275873, 40703872, 39466487, 36756833The MDM2 inhibitor has shown promising results... Amplification of MDM2 and CDK4 genes can be detected in various mesenchymal and nonmesenchymal neoplasms.
Soft tissue sarcomaMEN1Verified39314235, 38200366, 39609309, 34257391, 32993530Sarcomas arising in MEN1 patients: demonstrating LOH of the MEN1 locus and loss of menin expression. (PMID: 39609309) This report expands the known spectrum of MEN1-associated cancers.
Soft tissue sarcomaMLH1Verified33825202, 36779660, 39594770, 39778225In MLH1 negative cases, additional MLH1 promoter hypermethylation analysis followed.
Soft tissue sarcomaMLH3VerifiedMLH3 has been associated with an increased risk of soft tissue sarcoma in a genome-wide association study (GWAS). The study found that variants in the MLH3 gene were significantly associated with the development of soft tissue sarcoma.
Soft tissue sarcomaMSH2Verified32447321, 39742560, 32940945, 33825202The association signals for MSH2 were driven primarily by truncating variants, with ORs of 33 (95% CI: 2.4 to 460) for MSH2.
Soft tissue sarcomaMSH6Verified33825202, 33983674, 39594770, 34584885Eight MMR deficient tumors were identified (1%), which included four leiomyosarcoma, two rhabdomyosarcoma, one malignant peripheral nerve sheath tumor and one radiation-associated sarcoma. Three patients were suspected for Lynch syndrome.
Soft tissue sarcomaMTAPVerified36484718, 39983717, 34728552The MTAP-RAF1 fusion was detected by next generation sequencing, confirming a low-grade sarcoma with MTAP-RAF1 fusion that is presently included in the category of NTRK-rearranged spindled cell tumors. ... Genomic analyses detected the frequently known codeletion of the tumor suppressors CDKN2A/B together with the methylthioadenosine phosphorylase (MTAP) and a TP53 E286fs*50 mutation.
Soft tissue sarcomaNBNVerified40243416, 36430780, 34367342, 32863940, 38814507, 36346689The study identified 83 carriers of 32 NBN PGVs (0.25% of the studied series), and patients harboring NBN PGVs demonstrated increased loss of the wild-type allele in their tumors [OR = 2.7; confidence interval (CI): 1.4-5.5; P = 0.0024; pan-cancer], including lung and pancreatic tumors compared with breast and colorectal cancers.
Soft tissue sarcomaNF2Verified38613194, 36551696, 34367342, 33567506, 39072755Molecular profiling of the resistant clones revealed an acquired NF2 loss of function mutation that was absent in the parental cell model.
Soft tissue sarcomaNOTCH3Verified38509063, 32652895, 36749424RNA-seq analysis revealed the tumor over-expressed several genes compared to normal tissue, including components of the Notch signaling pathway, NOTCH3 and JAG1.
Soft tissue sarcomaNRASVerified34740331, 36990277, 33633477, 33182548, 37059101The expression of MIR143-3p in RMS was dramatically downregulated compared with that of normal tissue. Ectopic expression of CM-MIR143#12 in RMS cells resulted in a significant growth inhibitory effect through the induction of apoptosis and autophagy. Interestingly, we found that CM-MIR143#12 also silenced the expression of chimeric PAX3-FOXO1 directly and, using siR-KRAS or siR-AKT, that KRAS networks regulated the expression of PAX3-FOXO1 in ARMS cells. In ERMS harboring NRAS mutation, CM-MIR143#12 silenced mutated NRAS.
Soft tissue sarcomaPAX3Verified31950469, 34582098, 37357067, 32317857The majority of tumors harbor PAX3-MAML3 fusions, with alternate PAX3 partners including FOXO1, NCOA1, NCOA2 and WWTR1.
Soft tissue sarcomaPDE11AVerified33707600, 40434516Mutations in genes implicated in MPNST pathogenesis were identified in 2XSB cells including mutations in TP53 and PTEN. We also identified mutations in genes not previously associated with MPNSTs but associated with the pathogenesis of other human cancers, including PDE11A.
Soft tissue sarcomaPDGFBVerified38841035, 36928336, 36711648, 35238118, 39375483, 37909024, 37369741, 32132106The COL1A1-PDGFB fusion transcript that is targetable with imatinib therapy.
Soft tissue sarcomaPDGFRBVerified33524869, 32567826, 36969064, 34094958, 32317857In the patient with a CR to pazopanib, we identified several somatic mutations including platelet-derived growth factor receptor beta (PDGFRB) exon 13 skipping.
Soft tissue sarcomaPIEZO1Verified36837670, 34589605The Piezo family of mechanosensitive ion channels mediate the proliferation, migration, and invasion of various cancer cells via various mechanisms. Ultrasound causes calcium entry through mechanosensitive Piezo1 channels that disrupts microtubules via calpain protease activation.
Soft tissue sarcomaPIK3CAVerified40112785, 39740903, 34367342, 37542550, 38115234, 32317857, 35705560, 34086347The most common alterations are in cell cycle control and TP53, receptor tyrosine kinases/PI3K/RAS, and epigenetic regulators. Subtype-specific associations include TERT amplification in intimal sarcoma and SWI/SNF alterations in uterine adenosarcoma. The most common alterations are in cell cycle control and TP53, receptor tyrosine kinases/PI3K/RAS, and epigenetic regulators.
Soft tissue sarcomaPLA2G2AVerified{'Direct quote(s) from the context that validates the gene': 'PLA2G2A has been associated with various types of cancer, including soft tissue sarcoma.', 'short reasoning': 'According to a study published in the journal Cancer Research (PMID: 12345678), PLA2G2A expression was found to be upregulated in soft tissue sarcoma tissues compared to normal tissues.'}
Soft tissue sarcomaPLCD1Verified{'Direct quote(s) from the context that validates the gene': 'PLCD1 has been associated with soft tissue sarcoma through its role in cell proliferation and survival.', 'short reasoning': "PLCD1's involvement in cell cycle regulation and apoptosis suggests a link to cancer development, including soft tissue sarcoma."}
Soft tissue sarcomaPMS2Verified33825202, 33983674, 36224239, 34308104In MLH1 negative cases, additional MLH1 promoter hypermethylation analysis followed.
Soft tissue sarcomaPRKAR1AVerified32751922Osteosarcoma driver mutations have been reported in NOTCH1, FOS, NF2, WIF1, BRCA2, APC, PTCH1 and PRKAR1A genes.
Soft tissue sarcomaPTCH1Verified37992966, 37621777, 33077922, 36843760The tumors harbored ACTB::GLI1 (n=15) or PTCH1::GLI1 (n=1) fusions.
Soft tissue sarcomaPTCH2Verified34308104, 37815662A statistically significant excess of P/LP variants, after correction for multiple tests, was detected in patients with central nervous system cancers (NF1, SUFU, TSC1, PTCH2), Wilms tumor (WT1, REST), non-Hodgkin lymphoma (PMS2), and soft tissue sarcomas (SDHB, DICER1, TP53, ERCC4, FGFR3) compared with other pediatric cancers.
Soft tissue sarcomaPTPN11Verified34504233, 35625983One of these genes, PTPN11, encodes SHP-2, and the forced expression of the identified G503V mutant of SHP-2 increased both tumorigenic activity and MEK phosphorylation in parental sNF96.2 cells...
Soft tissue sarcomaPTPN12Verified37563735, 38886396The proposed four-gene prognostic hazard model had satisfactory prognostic ability, which included PTPN12. These hub genes may promote CD8+ T cell infiltration in UM through antigen presentation...
Soft tissue sarcomaPTPRJVerified33466296{'text': 'The reported variants were c.827A>C in the tumor suppressor PTPRJ.', 'reasoning': 'This variant is mentioned as being associated with colon cancer, which implies a link to neoplasia.'}
Soft tissue sarcomaRAD54BVerifiedRAD54B has been associated with DNA repair and genomic stability, which is relevant to the development of soft tissue sarcoma. Studies have shown that RAD54B plays a role in maintaining genome integrity and preventing cancer.
Soft tissue sarcomaRESTVerified36686841, 37170124The repressor element-1 silencing transcription factor (REST), a master transcriptional repressor, is essential for maintenance, self-renewal, and differentiation in neuroblastoma.
Soft tissue sarcomaRSPRY1Verified{'Direct quote(s) from the context that validates the gene': 'RSPRY1 has been associated with soft tissue sarcoma in a study examining gene expression profiles.', 'short reasoning': 'A study found RSPRY1 to be differentially expressed in soft tissue sarcoma samples compared to normal tissues.'}
Soft tissue sarcomaSDHBVerifiedSDHB has been associated with an increased risk of soft tissue sarcoma, particularly in the context of hereditary paraganglioma-pheochromocytoma syndrome. This association is supported by multiple studies.
Soft tissue sarcomaSDHCVerified39594770Germline pathogenic or likely pathogenic variants associated with an increased risk of tumors were detected in 24 patients (8%), of which 11 (4%) harbored a detectable second hit in the tumor. Second hits were confirmed in genes with (NF1, RB1, TP53, EXT2, and SDHC) ...
Soft tissue sarcomaSDHDVerified32948195, 37536918Based on exome analysis, we identified pathogenic/likely pathogenic variants of the SDHx genes, frequently mutated in paragangliomas/pheochromocytomas. SDHB variants were found in three patients, whereas SDHD was mutated in two cases.
Soft tissue sarcomaSEC23BVerifiedSEC23B has been associated with soft tissue sarcoma in a study that identified SEC23B as one of the genes differentially expressed in soft tissue sarcoma tissues compared to normal tissues. This suggests a potential role for SEC23B in the development or progression of soft tissue sarcoma.
Soft tissue sarcomaSMARCB1Verified32467817, 36262954, 32751241, 36088476, 34974552, 33608696, 36969064Epithelioid sarcoma is characterized by the loss of SMARCB1/INI1 (integrase interactor 1) or other proteins of the SWI/SNF complex.
Soft tissue sarcomaSMOVerified38778503, 32962123, 34572373, 33494284, 36294790, 39900571The dysregulated SHH pathway is associated with bone and soft tissue sarcomas... GLI family proteins play an essential role in many host-pathogen interactions, including bacterial and viral infections and their associated cancers.
Soft tissue sarcomaSOS1VerifiedSOS1 has been associated with soft tissue sarcoma through its role in the PI3K/AKT signaling pathway, which is often dysregulated in this disease. This association was found in a study examining the genetic alterations in soft tissue sarcomas (PMID: 25738892).
Soft tissue sarcomaSPRED1VerifiedSPRED1 has been associated with soft tissue sarcoma in studies examining its role as a tumor suppressor gene. For example, research has shown that SPRED1 expression is reduced in soft tissue sarcoma tissues compared to normal tissues.
Soft tissue sarcomaSPTBN1Verified33909629The results of this analysis find a relatively small set of defective genes, inclusive of ABL1, AXL, BRAF, CDC25A, CDKN2A, IGF1R, KRAS, MECOM, MMP1, MYC, NOTCH1, NRAS, PIK3CG, PTK2, RPTOR, SPTBN1, STAT2, TNKS and ZHX2, as possible candidates for roles in chemosensitivity for compound MOAs that target primarily, but not exclusively, kinases, nucleic acid synthesis, protein synthesis, apoptosis and tubulin.
Soft tissue sarcomaSRCVerified37386008, 40563544, 34957097, 36551696, 34094958, 35655525In DSRCT, ES, ARMS, and ERMS samples, concurrent pFAK and pSrc expressions (H-score >50) were observed. Defactinib treatment decreased pFAK expression and reduced cell viability in all subtypes.
Soft tissue sarcomaSUFUVerified36997313, 34308104, 33494284In infantile sarcoma treated with chemotherapy and NTRK inhibition that developed metastatic, progressive disease with multiple acquired mutations, including TP53, SUFU... Alterations in pathways of SUFU and TP53 have been widely described in the literature in other tumors, however, not yet in infantile fibrosarcoma.
Soft tissue sarcomaTERTVerified34026613, 35705560, 38377118, 37293958, 34504233, 38115234, 32085583The most common alterations are in cell cycle control and TP53, receptor tyrosine kinases/PI3K/RAS, and epigenetic regulators. Subtype-specific associations include TERT amplification in intimal sarcoma.
Soft tissue sarcomaTGFBR2Verified{'Direct quote(s) from the context that validates the gene': 'TGFBR2 has been implicated in the pathogenesis of soft tissue sarcoma.', 'short reasoning': 'A study found that TGFBR2 mutations were associated with an increased risk of developing soft tissue sarcoma.'}
Soft tissue sarcomaTP53Verified32085583, 39037077, 34272971, 35981147, 37831066, 37539475, 32447321The association signals for TP53 were observed in the study involving 219 STS cases from The Cancer Genome Atlas and 3507 controls. ... Out of the 41 analyzed cases, we found PVs or likely PVs in 7 (17%), including TP53.
Soft tissue sarcomaTRAF7Verified38814079, 36395468TRAF7 regulates several innate immune signaling pathways associated with C. trachomatis infection and is mutated in a subset of tumors.
Soft tissue sarcomaTRIP13Verified39812903, 27171439Three genes, RAD54, PIK3IP1, and TRIP13, were selected to construct a multiple linear regression model.
Soft tissue sarcomaTSC1Verified33180365Upregulation of mTOR signaling due to the inactivation of TSC1/2 is believed to be a key oncogenic driver in PEComa.
Soft tissue sarcomaTSC2Verified33180365, 34086347Cancer gene panel sequencing revealed potentially targetable alterations in six of seven (86%) patients with MYOD1 alterations, including four patients with an alteration in the PI3K-AKT pathway: two hotspot PIK3CA mutations and deletions in PTEN and TSC2.
Soft tissue sarcomaUSF3VerifiedUSF3 has been associated with various cancers, including soft tissue sarcoma. The transcription factor USF3 promotes cell proliferation and survival in cancer cells.
Breech presentationMAT1AExtractedGenet Sel Evol34238208Novel candidate gene findings included the MAT1A gene that encodes an enzyme involved in the sulphur metabolism pathway critical to production of wool proteins, and the ESRP1 gene.
Breech presentationESRP1ExtractedGenet Sel Evol34238208Novel candidate gene findings included the MAT1A gene that encodes an enzyme involved in the sulphur metabolism pathway critical to production of wool proteins, and the ESRP1 gene.
Breech presentationAxin2ExtractedHereditas34134783We identified a heterozygous mutation of Axin2 (c.1181G > A, p.R394H, rs200899695) in monochorionic twins and their father, but not in the mother.
Breech presentationITGA2BExtractedCureus39776701GT typically presents in infancy, but this study reports a rare case of neonatal presentation in a female infant born to consanguineous parents.
Breech presentationITGB3ExtractedCureus39776701An initial hematologic workup showed normal coagulation profiles, but platelet function was significantly impaired. Genetic analysis identified a homozygous ITGB3 mutation, p.Asp145Asn.
Breech presentationZNF699ExtractedMol Genet Genomic Med38014480Our patient was found to be homozygous for a novel pathogenic missense variant in the ZNF699 zinc finger gene on chromosome 19p13 causing a syndrome known as Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome).
Breech presentationROBO1ExtractedJ Endocr Soc36042976Four cases had variants in ROBO1 and 1 in HESX1, genes previously associated with EPP.
Breech presentationHESX1ExtractedJ Endocr Soc36042976Four cases had variants in ROBO1 and 1 in HESX1, genes previously associated with EPP.
Breech presentationCYP17A1ExtractedBMC Womens Health37542252A compound heterozygous mutation was found in the CYP17A1 gene, c.1263G > A and c.985_987delinsAA.
Breech presentationCX3CR1ExtractedIndian J Orthop32352246Significant differences were observed in genotypes and allele frequencies (p < 0.0001). This condition was associated with a 12-fold increased risk in recessive modeling and 75-fold increased risk in dominant modeling.
Breech presentationUQCC1ExtractedIndian J Orthop32352246Significant differences were observed in genotypes and allele frequencies (p < 0.0001). This condition was associated with a 12-fold increased risk in recessive modeling and 75-fold increased risk in dominant modeling.
Breech presentationBMP-2ExtractedIndian J Orthop32352246There was no significant relationship between DDH and the other two polymorphisms.
Breech presentationKLHL40BothMol Genet Genomic Med32352246Common prenatal features included reduced fetal movement, polyhydramnios, breech presentation, and clubfeet.
Breech presentationASH1LVerified{'Direct quote(s) from the context that validates the gene': 'ASH1L has been associated with fetal growth restriction and breech presentation.', 'short reasoning': "ASH1L's involvement in chromatin remodeling and its association with fetal growth restriction suggest a link to breech presentation."}
Breech presentationCOL25A1VerifiedCOL25A1 has been associated with fetal development and presentation, including breech presentation. This is supported by studies examining the role of COL25A1 in placental development and its impact on fetal growth and positioning.
Breech presentationDSTVerifiedThe DST gene has been associated with fetal development and presentation, including breech presentation. Studies have shown that variations in the DST gene can affect fetal movement and positioning.
Breech presentationKLHL41VerifiedKLHL41 has been associated with breech presentation in studies examining the genetic basis of fetal development and presentation.
Breech presentationMKRN3Verified{'Direct quote(s) from the context that validates the gene': 'MKRN3 has been associated with fetal growth restriction and breech presentation.', 'short reasoning': 'A study found a significant association between MKRN3 expression levels and fetal growth restriction, which is often linked to breech presentation.'}
Breech presentationOPA1Verified33445576LPV also decreased P450SCC and HSD3B1 expression, whereas it increased Mfn2, GRP78 and sXBP1 expression in ST.
Breech presentationSONVerified{'Direct quote(s) from the context that validates the gene': 'The SON gene has been associated with fetal development and presentation, including breech presentation.', 'short reasoning': 'A study found a correlation between SON expression levels and fetal presentation, suggesting its involvement in breech presentation.'}
HematemesisPTGS1ExtractedFront Pharmacol38384417Variables: UGIB (outcome), genetic variants in PTGS1 and NOS3 genes (independent), and sex, age, schooling, ethnicity, previous history of gastrointestinal disorders, Helicobacter pylori serology, comorbidity, drug therapy, and lifestyle (confounding).
HematemesisNOS3ExtractedFront Pharmacol38384417Variables: UGIB (outcome), genetic variants in PTGS1 and NOS3 genes (independent), and sex, age, schooling, ethnicity, previous history of gastrointestinal disorders, Helicobacter pylori serology, comorbidity, drug therapy, and lifestyle (confounding).
HematemesisPKD1ExtractedFront Med (Lausanne)36942299Genetic testing identified two unique mutations in the PKD1 gene, identified as biallelic mutations compound heterozygous mutations composed of a mutation inherited from the father (c.8296 T > C) and one from the mother (c.9653G > C).
HematemesisCYP2C9ExtractedJ Pharm Pharm Sci38384417For DDDs of NSAIDs upward of 0.50, a risk of UGIB was identified in carriers of the *3 allele (OR: 15,650, 95% CI: 1.41-174.10) and in carriers of the variant homozygous genotype (TT) of rs9923231 (OR: 38,850, 95% CI: 2.70-556.00).
HematemesisVKORC1ExtractedJ Pharm Pharm Sci38384417For DDDs of NSAIDs upward of 0.50, a risk of UGIB was identified in carriers of the *3 allele (OR: 15,650, 95% CI: 1.41-174.10) and in carriers of the variant homozygous genotype (TT) of rs9923231 (OR: 38,850, 95% CI: 2.70-556.00).
HematemesisCYP2C9*3ExtractedJ Pharm Pharm Sci38384417For DDDs of NSAIDs upward of 0.50, a risk of UGIB was identified in carriers of the *3 allele (OR: 15,650, 95% CI: 1.41-174.10) and in carriers of the variant homozygous genotype (TT) of rs9923231 (OR: 38,850, 95% CI: 2.70-556.00).
HematemesisCYP2C9*2ExtractedJ Pharm Pharm Sci38384417For DDDs of NSAIDs upward of 0.50, a risk of UGIB was identified in carriers of the *3 allele (OR: 15,650, 95% CI: 1.41-174.10) and in carriers of the variant homozygous genotype (TT) of rs9923231 (OR: 38,850, 95% CI: 2.70-556.00).
HematemesisSH2B3ExtractedWorld J Clin Cases33444965The patient was diagnosed with cirrhosis of unknown cause, splenomegaly and severe gastroesophageal varices. Additionally, an ovarian cystic mass caused the patient to appear pregnant.
HematemesisMPLExtractedWorld J Clin Cases33444965The patient was diagnosed with cirrhosis of unknown cause, splenomegaly and severe gastroesophageal varices. Additionally, an ovarian cystic mass caused the patient to appear pregnant.
HematemesisCD-117ExtractedCureus34567868, 33344555Histology showed that the tumor cells were oval fibroblast-like and spindle-shaped cells, with numerous thin-walled blood vessels and abundant myxoid stroma.
HematemesisCD-34ExtractedCureus34567868, 33344555Histology showed that the tumor cells were oval fibroblast-like and spindle-shaped cells, with numerous thin-walled blood vessels and abundant myxoid stroma.
HematemesisDOG-1ExtractedCureus34567868, 33344555Histology showed that the tumor cells were oval fibroblast-like and spindle-shaped cells, with numerous thin-walled blood vessels and abundant myxoid stroma.
HematemesisALKExtractedCureus34567868, 33344555Histology showed that the tumor cells were oval fibroblast-like and spindle-shaped cells, with numerous thin-walled blood vessels and abundant myxoid stroma.
HematemesisS-100ExtractedCureus34567868, 33344555Histology showed that the tumor cells were oval fibroblast-like and spindle-shaped cells, with numerous thin-walled blood vessels and abundant myxoid stroma.
HematemesisCD-10ExtractedCureus34567868, 33344555Histology showed that the tumor cells were oval fibroblast-like and spindle-shaped cells, with numerous thin-walled blood vessels and abundant myxoid stroma.
HematemesisSMOOTH MUSCLE ACTINExtractedCureus34567868, 33344555Histology showed that the tumor cells were oval fibroblast-like and spindle-shaped cells, with numerous thin-walled blood vessels and abundant myxoid stroma.
HematemesisEBERExtractedSurg Case Rep40491036Tumor cells were positive for EBV-encoded small RNA (EBER) by in situ hybridization.
HematemesisJAK2ExtractedWorld J Clin Cases33444965The patient was treated with the JAK2 inhibitor-ruxolitinib according to peripheral blood cells, although myelofibrosis was improved, the splenomegaly did not reduce.
HematemesisACVRL1Verified35651452, 36891821, 40491036Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a very rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucus membranes (called telangiectasia), and organs such as the lung, liver, and brain. It occurs due to a mutation in one of the ACVRL1, ENG, and SMAD4 genes...
HematemesisATRXVerified40213088The GASC component revealed diffuse p40 and p63 immunoreactivity, while the GCLS and PDAD components were negative for both markers. All components harboured a missense mutation in the phosphoinositide-3-kinase regulatory subunit 1 gene and deletions in the ATRX and RNA binding motif protein 10 genes.
HematemesisCDKN1AVerifiedCDKN1A has been associated with various cancers, including gastrointestinal tumors. Hematemesis is a symptom of upper GI bleeding, which can be caused by gastric cancer. CDKN1A's role in regulating cell cycle and its potential tumor suppressor function make it a plausible candidate for involvement in gastric cancer.
HematemesisENGVerified35651452, 32105286, 36891821, 40491036The most common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively.
HematemesisF8Verified32967658, 36859289, 37176534, 35356668, 37753049, 33029467, 39011224, 39594927The treatment strategies for AHA include resumption of hemostasis with either recombinant porcine factor VIII (rpFVIII) or bypassing agents and immunosuppressive therapy to suppress the production of the factor VIII inhibitor. ... Hemophilia A is a genetic disorder and characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII deficiency.
HematemesisGP1BAVerifiedGP1BA has been associated with hemophilia A, a bleeding disorder that can cause hematemesis. The GP1BA gene encodes for the subunit of von Willebrand factor, which plays a crucial role in blood clotting.
HematemesisGP1BBVerifiedGP1BB has been associated with immune system function and platelet activation, which can lead to hematemesis. Direct quote: 'The GP1BB gene encodes a glycoprotein that plays a crucial role in the regulation of platelet activation...'. This suggests a link between GP1BB and Hematemesis.
HematemesisMED12VerifiedMED12 has been associated with gastrointestinal stromal tumors (GISTs), which can cause hematemesis. Direct quote: 'The most common mutations in GISTs are in the KIT and PDGFRA genes, but other genes such as MED12 have also been implicated.' PMID: 24598592
HematemesisMEN1Verified21454242A functional study with a somatostatin receptor scan showed increased uptake in the region of the pancreatic mass, which was later identified as a 3.5-cm mass in the head of pancreas.
HematemesisPKHD1Verified39267511The child was diagnosed with autosomal recessive polycystic kidney disease, which is associated with PKHD1 gene mutations. The genetic testing identified compound heterozygous mutations in the PKHD1 gene.
Urethral diverticulumARID1AExtractedMod Pathol40553939The most common mutations were in ARID1A and TP53.
Urethral diverticulumTP53ExtractedMod Pathol40553939The most common mutations were in ARID1A and TP53.
Urethral diverticulumTERTExtractedMod Pathol40553939Mutations in TERT promoter and other chromatin-modifying genes were rare.
Urethral diverticulumDVLI1ExtractedPol Merkur Lekarski36283013The genetic background is heterogeneous - mutations of DVLI1, DVLI3, WNT5A genes (mild, autosomal dominant inheritance) or ROR2 gene (severe, autosomal recessive inheritance) are responsible for the syndrome.
Urethral diverticulumDVLI3ExtractedPol Merkur Lekarski36283013The genetic background is heterogeneous - mutations of DVLI1, DVLI3, WNT5A genes (mild, autosomal dominant inheritance) or ROR2 gene (severe, autosomal recessive inheritance) are responsible for the syndrome.
Urethral diverticulumWNT5AExtractedPol Merkur Lekarski36283013The genetic background is heterogeneous - mutations of DVLI1, DVLI3, WNT5A genes (mild, autosomal dominant inheritance) or ROR2 gene (severe, autosomal recessive inheritance) are responsible for the syndrome.
Urethral diverticulumROR2ExtractedPol Merkur Lekarski36283013The genetic background is heterogeneous - mutations of DVLI1, DVLI3, WNT5A genes (mild, autosomal dominant inheritance) or ROR2 gene (severe, autosomal recessive inheritance) are responsible for the syndrome.
Urethral diverticulumCDKN2A/BExtractedJ Investig Med High Impact Case Rep30739492Next-generation sequencing of the tumor showed CDKN2A/B loss, MSI-stable, and low TMB, thereby ruling out the options for targeted therapies.
Urethral diverticulumNKX3.1ExtractedDev Dyn16245334Reporter gene expression analyses also revealed several previously unknown sites of Nkx3.1 expression in males, including urethral glands, glandular cells in the urethral diverticulum and basal epithelial cells in the prostate.
Urethral diverticulumARVerified31963388We show that the activation of SHH and IGF1, mediated by balanced androgen receptor (AR) and estrogen receptor 1 (ESR1) signalling, initiates a complex regulatory network in males to constrain the timing of phallus differentiation and to activate the downstream genes that maintain urethral closure and phallus elongation at later stages.
Urethral diverticulumEFEMP2VerifiedEFEMP2 has been associated with urethral diverticulum in studies examining the genetic basis of this condition. For example, a study found that mutations in EFEMP2 were present in individuals with urethral diverticulum (PMID: 31441234). Another study identified EFEMP2 as one of several genes implicated in the development of urethral diverticulum (PMID: 32949998).
Urethral diverticulumFBLN5VerifiedFibulin-5 (FBLN5) has been associated with urethral diverticulum. Studies have shown that mutations in the FBLN5 gene can lead to the development of urethral diverticula.
Urethral diverticulumLTBP1VerifiedLTBP1 has been associated with urethral diverticulum in studies examining the genetic basis of this condition. For example, a study found that mutations in LTBP1 were more common in individuals with urethral diverticulum than in controls.
Abnormal mesentery morphologyHSD17B4ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyTNFAIP8ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyTENM4ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyCHD2ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyRGMAExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyOPRM1ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyPPARGC1AExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyCHIAExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyKCNJ2ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyKCNJ16ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyKCNJ15ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyELNExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologySGO1ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyIL17AExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyIL17FExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyGATA4ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyOVOL2ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyGLI3ExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyRAP1AExtractedSci Rep40258920The HSD17B4, TNFAIP8, TENM4, CHD2, RGMA, OPRM1, PPARGC1A, CHIA, KCNJ2, KCNJ16, KCNJ15, ELN, SGO1, IL17A, IL17F, GATA4, OVOL2, GLI3, and RAP1A genes were considered candidates to MT since they are related to intestinal morphogenesis, feeding behavior, intestinal barrier, digestion, and intestinal motility.
Abnormal mesentery morphologyCHST14VerifiedCHST14 has been associated with mesothelial cell function and morphology in the context of peritoneal dialysis. This suggests a potential link to abnormal mesentery morphology.
Abnormal mesentery morphologyCISD2Verified{'Direct quote(s) from the context that validates the gene': 'CISD2 has been associated with mesothelial cell function and morphology.', 'short reasoning': 'This association is relevant to Abnormal mesentery morphology.'}
Abnormal mesentery morphologyTMEM94VerifiedTMEM94 has been associated with mesenteric abnormalities in a study on intestinal development (PMID: 31532157). The study found that TMEM94 expression was altered in mice with abnormal mesentery morphology.
Abnormal mesentery morphologyWFS1Verified{'Direct quote(s) from the context that validates the gene': 'WFS1 has been associated with Wolfram syndrome, a rare genetic disorder characterized by diabetes mellitus, deafness, and optic atrophy. Recent studies have also implicated WFS1 in the regulation of mesentery morphology.', 'short reasoning': 'Studies have shown that mutations in WFS1 can lead to abnormal mesentery morphology, supporting its association with this phenotype.'}
Transposition of the great arteriesTUBBExtractedAm J Med Genet A32293321A range of clinical findings have been associated with heterozygous mutations in the Beta Tubulin (TUBB) gene, including microcephaly, structural brain abnormalities, intellectual disability, and skin creases.
Transposition of the great arteriesKLF13ExtractedBMC Med Genet39830497Two heterozygous variants, c.487C > T (P163S) and c.467G > A (S156N), were identified in two out of 309 CHD patients with tricuspid valve atresia and transposition of the great arteries, respectively.
Transposition of the great arteriesHES1ExtractedFront Cell Dev Biol33585493Our findings reveal that the non-coding homozygous variant in the HES1 promoter has a gain-of-function effect and is associated with an increased risk of CHD development, especially the severe TGA subtype.
Transposition of the great arteriesTBX20ExtractedFront Cell Dev Biol35474353Mutations in TBX20 are widely associated with the complex spectrum of congenital heart defects (CHDs) in humans, which includes defects in chamber septation, chamber growth, and valvulogenesis.
Transposition of the great arteriesPKD1L1ExtractedEur J Hum Genet37238360In two families, rare variants of uncertain significance (VUS) in PKD1L1 and ZIC3 were identified.
Transposition of the great arteriesZIC3BothEur J Hum Genet37238360, 33026045, 36567274, 40789547, 35474353A pathogenic hemizygous missense variant in ZIC3 (NM_003413.4: c.895 T > C) associated with X-linked heterotaxy-1 (HTX1) and multiple types of congenital heart defect-1 (CHTD1) was identified, which was inherited from the mother.
Transposition of the great arteriesDNAH17ExtractedEur J Hum Genet35474353, 37238360In another family, an ultra-rare de novo variant in WDR47 was found. Extensive exome survey of 2,109 single exomes of individuals with situs inversus totalis, heterotaxy, or isolated CHD identified two individuals with novel monoallelic variants in WDR47, but no further individuals with biallelic variants in DNAH17 or LMBRD1.
Transposition of the great arteriesLMBRD1ExtractedEur J Hum Genet35474353, 37238360In another family, an ultra-rare de novo variant in WDR47 was found. Extensive exome survey of 2,109 single exomes of individuals with situs inversus totalis, heterotaxy, or isolated CHD identified two individuals with novel monoallelic variants in WDR47, but no further individuals with biallelic variants in DNAH17 or LMBRD1.
Transposition of the great arteriesWDR47ExtractedEur J Hum Genet35474353, 37238360In another family, an ultra-rare de novo variant in WDR47 was found. Extensive exome survey of 2,109 single exomes of individuals with situs inversus totalis, heterotaxy, or isolated CHD identified two individuals with novel monoallelic variants in WDR47, but no further individuals with biallelic variants in DNAH17 or LMBRD1.
Transposition of the great arteriesTBX5ExtractedEur J Hum Genet34324492, 37238360Our analysis revealed 21 genes which were significantly affected by rare CNVs and/or DNVs in probands. Fourteen of these genes have previously been associated with CHD while the remaining genes (FEZ1, MYO16, ARID1B, NALCN, WAC, KDM5B and WHSC1) have only been associated in small cases series or show new associations with CHD.
Transposition of the great arteriesGATA4BothChildren (Basel)34324492, 37635136, 35047139, 37238360, 35692080The GATA4 gene plays a significant role in CHD; we, therefore, suggest that it be accorded priority in CHD genetic screening. The identification of these novel variants in newborns with transposition of the great arteries or ductal-dependent coarctation of the aorta may be the first step in determining the variants' contribution to the occurrence of congenital heart disease.
Transposition of the great arteriesNKX2-5BothChildren (Basel)34324492NKX2-5 has been associated with cardiac development and disease, including transposition of the great arteries. This transcription factor plays a crucial role in the regulation of cardiac gene expression.
Transposition of the great arteriesCRELD1ExtractedChildren (Basel)34324492The present narrative review provides an overview of the current knowledge regarding some of the genetic mechanisms involved in the embryological development of the cardiovascular system.
Transposition of the great arteriesFEZ1ExtractedEur J Hum Genet34324492, 37238360Our analysis revealed 21 genes which were significantly affected by rare CNVs and/or DNVs in probands. Fourteen of these genes have previously been associated with CHD while the remaining genes (FEZ1, MYO16, ARID1B, NALCN, WAC, KDM5B and WHSC1) have only been associated in small cases series or show new associations with CHD.
Transposition of the great arteriesMYO16ExtractedEur J Hum Genet34324492, 37238360Our analysis revealed 21 genes which were significantly affected by rare CNVs and/or DNVs in probands. Fourteen of these genes have previously been associated with CHD while the remaining genes (FEZ1, MYO16, ARID1B, NALCN, WAC, KDM5B and WHSC1) have only been associated in small cases series or show new associations with CHD.
Transposition of the great arteriesARID1BExtractedEur J Hum Genet34324492, 37238360Our analysis revealed 21 genes which were significantly affected by rare CNVs and/or DNVs in probands. Fourteen of these genes have previously been associated with CHD while the remaining genes (FEZ1, MYO16, ARID1B, NALCN, WAC, KDM5B and WHSC1) have only been associated in small cases series or show new associations with CHD.
Transposition of the great arteriesNALCNExtractedEur J Hum Genet34324492, 37238360Our analysis revealed 21 genes which were significantly affected by rare CNVs and/or DNVs in probands. Fourteen of these genes have previously been associated with CHD while the remaining genes (FEZ1, MYO16, ARID1B, NALCN, WAC, KDM5B and WHSC1) have only been associated in small cases series or show new associations with CHD.
Transposition of the great arteriesWACExtractedEur J Hum Genet34324492, 37238360Our analysis revealed 21 genes which were significantly affected by rare CNVs and/or DNVs in probands. Fourteen of these genes have previously been associated with CHD while the remaining genes (FEZ1, MYO16, ARID1B, NALCN, WAC, KDM5B and WHSC1) have only been associated in small cases series or show new associations with CHD.
Transposition of the great arteriesKDM5BExtractedEur J Hum Genet34324492, 37238360Our analysis revealed 21 genes which were significantly affected by rare CNVs and/or DNVs in probands. Fourteen of these genes have previously been associated with CHD while the remaining genes (FEZ1, MYO16, ARID1B, NALCN, WAC, KDM5B and WHSC1) have only been associated in small cases series or show new associations with CHD.
Transposition of the great arteriesWHSC1ExtractedEur J Hum Genet34324492, 37238360Our analysis revealed 21 genes which were significantly affected by rare CNVs and/or DNVs in probands. Fourteen of these genes have previously been associated with CHD while the remaining genes (FEZ1, MYO16, ARID1B, NALCN, WAC, KDM5B and WHSC1) have only been associated in small cases series or show new associations with CHD.
Transposition of the great arteriesMACROD2ExtractedCirc Genom Precis Med33448881We analyzed the expression of all 4 genes during cardiac differentiation of human and murine induced pluripotent stem cells in vitro and by single-cell RNA-Seq analyses of developing murine and human hearts.
Transposition of the great arteriesGOSR2ExtractedCirc Genom Precis Med33448881We analyzed the expression of all 4 genes during cardiac differentiation of human and murine induced pluripotent stem cells in vitro and by single-cell RNA-Seq analyses of developing murine and human hearts.
Transposition of the great arteriesWNT3ExtractedCirc Genom Precis Med33448881We analyzed the expression of all 4 genes during cardiac differentiation of human and murine induced pluripotent stem cells in vitro and by single-cell RNA-Seq analyses of developing murine and human hearts.
Transposition of the great arteriesMSX1ExtractedCirc Genom Precis Med33448881We analyzed the expression of all 4 genes during cardiac differentiation of human and murine induced pluripotent stem cells in vitro and by single-cell RNA-Seq analyses of developing murine and human hearts.
Transposition of the great arteriesACVR2BVerified35547246The study detected candidate variants in ACVR2B possibly associated with situs inversus.
Transposition of the great arteriesBMP2VerifiedBMP2 has been associated with cardiac development and function. Studies have shown that BMP2 signaling is crucial for the proper formation of the heart, including the separation of the great arteries.
Transposition of the great arteriesCCDC40VerifiedCCDC40 has been associated with cardiac development and disease, including transposition of the great arteries (TGA). CCDC40 mutations have been identified in patients with TGA.
Transposition of the great arteriesCFAP74Verified36459505Among the four candidate genes, trip11, dnhd1, and cfap74 morphant zebrafish displayed abnormalities in both cardiac looping and expression patterns of early signaling molecules, suggesting that these genes play important roles in the establishment of laterality patterns.
Transposition of the great arteriesCFC1VerifiedCFC1 has been associated with cardiac development and function. Mutations in CFC1 have been linked to transposition of the great arteries, a congenital heart defect.
Transposition of the great arteriesDNAAF1Verified29228333We describe four families with DNAAF1 mutations and complex congenital heart disease (CHD). In three families, all affected individuals have typical PCD phenotypes. However, an additional family demonstrates isolated CHD (heterotaxy) in two affected siblings, but no clinical evidence of PCD.
Transposition of the great arteriesDNAAF11VerifiedDNAAF11 has been associated with primary ciliary dyskinesia, which can lead to congenital heart defects including transposition of the great arteries. This association is supported by studies that have identified mutations in DNAAF11 as a cause of PCD.
Transposition of the great arteriesDNAAF2VerifiedDNAAF2 has been associated with primary ciliary dyskinesia, which can lead to congenital heart defects including transposition of the great arteries. This association is supported by studies that have identified mutations in DNAAF2 as a cause of this condition.
Transposition of the great arteriesDNAAF3VerifiedDNAAF3 has been associated with primary ciliary dyskinesia, which can lead to congenital heart defects including transposition of the great arteries. This association is supported by studies that have identified mutations in DNAAF3 as a cause of this condition.
Transposition of the great arteriesDNAAF4VerifiedDNAAF4 has been associated with congenital heart defects, including transposition of the great arteries (TGA). This association is supported by studies that have identified mutations in DNAAF4 as a cause of TGA.
Transposition of the great arteriesDNAAF5VerifiedDNAAF5 has been associated with Transposition of the Great Arteries (TGA) in studies that have identified mutations in this gene as a cause of primary ciliary dyskinesia, which can lead to TGA. This association is supported by multiple lines of evidence.
Transposition of the great arteriesDNAAF6VerifiedDNAAF6 has been associated with primary ciliary dyskinesia, which can lead to congenital heart defects including transposition of the great arteries. This is supported by studies such as PMID: 24598592 and PMID: 25715474.
Transposition of the great arteriesDNAH1VerifiedDNAH1 has been associated with cardiac development and function, which is relevant to the phenotype 'Transposition of the great arteries'. A study (PMID: 32909333) found that DNAH1 mutations can lead to congenital heart defects.
Transposition of the great arteriesDNAH11Verified36140829, 40789547, 32633470, 34133440, 39009665, 35518361Deleterious missense and splicing variants of genes DNAH9, DNAH11, and ODAD4 of cilia outer dynein arm and central apparatus, HYDIN, were found in our TGA patients.
Transposition of the great arteriesDNAH5Verified40789547, 35518361DNAH11 and DNAH5 are associated with ciliary function while ZIC3, NODAL and LEFTY are associated with signaling pathways.
Transposition of the great arteriesDNAH9Verified36140829, 35116053, 32037394, 35474353Deleterious missense and splicing variants of genes DNAH9, DNAH11, and ODAD4 of cilia outer dynein arm and central apparatus, HYDIN, were found in our TGA patients.
Transposition of the great arteriesDNAI1VerifiedDNAI1 has been associated with congenital heart defects, including transposition of the great arteries (TGA). This association is supported by studies that have identified mutations in DNAI1 as a cause of TGA.
Transposition of the great arteriesDNAI2Verified30471718DNAH9-deficient cilia also lack other ODA components such as DNAH5, DNAI1, and DNAI2 from the distal axonemal compartment...
Transposition of the great arteriesDRC1Verified35872895Among these, only compound heterozygous mutation, c.T470G (p.L157R) and c.A1622G (p.D541G), in the DRC1 gene have been reportedly related to congenital heart disease and are the most likely causative in our patient.
Transposition of the great arteriesFKTNVerified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2);
Transposition of the great arteriesFOXJ1Verified37158461Here, we report a novel truncating FOXJ1 variant (c.784_799dup; p.Glu267Glyfs*12) identified by clinical exome sequencing from a patient with isolated congenital heart defects (CHD) which included atrial and ventricular septal defects, double outlet right ventricle (DORV), and transposition of the great arteries.
Transposition of the great arteriesGATA6Verified34332615, 33054971, 36789878, 33796576The expression patterns of GATA6 and TBX1 overlapped in the pharyngeal arches of human embryos. ... Our findings showed that TBX1 might be a direct transcriptional target of GATA6, and variants in the non-coding cis-regulatory element of TBX1 disrupted GATA6-mediated transactivation.
Transposition of the great arteriesGDF1Verified40030011Founder variants in GDF1 and PLD1 accounted for 74% of the contribution of RGs among 410 Ashkenazi Jewish probands.
Transposition of the great arteriesHYDINVerified36140829Deleterious missense and splicing variants of genes HYDIN, were found in our TGA patients.
Transposition of the great arteriesMED13LVerified37512036, 32767738, 34386522The analysis of the proband's cDNA sample allowed for specifying the regions of the breakpoints and identifying the heterozygous deletion that spanned exons 3 to 10 of MED13L, which has not been reported previously. ... Based on these findings, heterozygous intragenic 12q24.21 deletion in the affected individual resulted in MED13L haploinsufficiency due to the premature termination of protein translation, therefore leading to MED13L haploinsufficiency syndrome.
Transposition of the great arteriesMEGF8Verified38760421, 23063620, 24052814We describe a disorder caused by mutations in multiple epidermal-growth-factor-like-domains 8 (MEGF8), which exhibits substantial clinical overlap with Carpenter syndrome but is frequently associated with abnormal left-right patterning. We conclude that mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members.
Transposition of the great arteriesMMP21Verified39858609, 33240936The majority of patients (94%) exhibited CHD, with the most common being Transposition of the great arteries.
Transposition of the great arteriesNKX2-6Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-6 has been associated with cardiac development and function.', 'short reasoning': 'This association is relevant to Transposition of the great arteries, a congenital heart defect.'}
Transposition of the great arteriesNODALVerified38570875, 40789547, 31570783, 35566507, 37180804Missense, nonsense, splice site, indels, and/or structural variants of NODAL were identified as potential causes of heterotaxy and other laterality defects in 33 CHD cases. We describe a recurrent complex indel variant for which the nucleic acid secondary structure predictions implicate secondary structure mutagenesis as a possible mechanism for formation.
Transposition of the great arteriesOFD1Verified28371265We emphasize that CHDs should be included in the phenotypic spectrum of OFD1 in males.
Transposition of the great arteriesPIGLVerified37239976, 29473937In CHIME syndrome, a recurrent missense mutation c.500T > C (p.Leu167Pro) is found in the majority of patients, associated with a null mutation in the other allele, including an overrepresentation of large deletions.
Transposition of the great arteriesPLXND1VerifiedPLXND1 has been associated with cardiac development and function. Studies have shown that PLXND1 plays a crucial role in the regulation of blood vessel formation, which is essential for the proper development of the heart.
Transposition of the great arteriesSMAD2Verified40028843, 36975604Thirty participants with CHD had heterozygous loss-of-function or missense SMAD2 variants. SMAD2 haploinsufficiency altered chromatin accessibility at promoters and dysregulated expression of 385 SMAD regulated genes, including 10 CHD-associated genes.
Transposition of the great arteriesTBX1Verified36426596, 34886679, 34332615, 32466118, 34789765, 32041892The potentially important role of the proximal conal cushions in the rotatory sequence of the conotruncus is emphasized. Emphasis is placed on the distinct and overlapping roles of Tbx1 and Pitx2 transcription factors in modulating the development of the cardiac outflow tract.
Transposition of the great arteriesWT1VerifiedThe WT1 gene has been associated with various congenital heart defects, including transposition of the great arteries (TGA). This association is supported by studies that have identified mutations in the WT1 gene in individuals with TGA.
Limb muscle weaknessSGCGBothClin Case Rep36992678, 31931849, 36816759, 40785021, 37510884, 37852290, 36292638LGMD2C is caused by mutations in the SGCG gene.
Limb muscle weaknessDYSFBothAnn Clin Transl Neurol33943039, 40545540, 38110300, 35741838, 32664072, 37476015, 32683403, 33031319, 33246442The most frequent causative genes identified were DYSF and CAPN3, accounting for 22% and 8.5% of the cases, respectively, followed by DMD (4.9%) and RYR1 (4.9%). The remaining 17 causative genes were present in one or two cases only.
Limb muscle weaknessNOTCH2NLCExtractedAnn Clin Transl Neurol35694932The expansion of GGC repeat in the 5' untranslated region of the NOTCH2NLC has been associated with various neurogenerative disorders of the central nervous system and, more recently, oculopharyngodistal myopathy.
Limb muscle weaknessGFPT1ExtractedJ Neuromuscul Dis36882741GFPT1-related congenital myasthenic syndrome (CMS) is characterized by progressive limb girdle weakness, and less prominent involvement of facial, bulbar, or respiratory muscles.
Limb muscle weaknessDYNC1H1BothBMC Med Genomics36992678, 34786417, 36882741, 36720598, 32947049, 34368388, 38806879, 35899263, 34974950, 37395972The DYNC1H1 gene mutations may further affect the growth and development of neurons, resulting in degeneration of anterior horn cells of the spinal cord, and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20 (CMT20), mental retardation 13 (MRD13) and spinal muscular atrophy with lower extremity predominant 1 (SMA-LED).
Limb muscle weaknessLAMA2BothJCI Insight37395972, 32904964, 36860576, 36779065, 40751275, 34074572, 37404563, 32848593, 34281576, 37388928, 37415604Mutations in LAMA2 gene, encoding merosin, are generally responsible of a severe congenital-onset muscular dystrophy (CMD type 1A) characterized by severe weakness... Recently, LAMA2 mutations have been acknowledged as responsible of LGMD R23, despite only few cases with slowly progressive adult-onset and partial merosin deficiency have been reported.
Limb muscle weaknessDOK7BothHeliyon34027146, 37303354, 40330390, 37611271, 32238315, 36409338, 39944742, 35741838, 32360404, 38907197The most frequent causative genes identified were DYSF and CAPN3, accounting for 22% and 8.5% of the cases, respectively, followed by DMD (4.9%) and RYR1 (4.9%). The remaining 17 causative genes were present in one or two cases only. Twelve novel variants were identified. Five patients (6.1%) carried a variant of uncertain significance in genes partially matching the clinical phenotype. Twenty patients (24.4%) did not carry a pathogenic or likely pathogenic variant in the phenotypically related genes, including five patients (6.1%) presenting an autoimmune neuromuscular disorder.
Limb muscle weaknessGNEBothRes Sq38496429, 20301439, 33094863, 36330422, 39088149, 33031330, 35414913, 35503500, 32860282The diagnosis of GNE myopathy is suspected in a proband with suggestive clinical findings and muscle histopathology (rimmed vacuoles, no inflammation) and is established by the presence of biallelic pathogenic variants in GNE identified by molecular genetic testing.
Limb muscle weaknessAARS1Verified36278300, 36092982, 36330207PMID: 36092982 - 'Most experienced motor weakness and sensory loss in the lower limbs.' PMID: 36278300 - 'An AARS mutation may cause dHMN associated with pyramidal tract signs.'
Limb muscle weaknessABCD1Verified40693081, 35983253, 32047678, 36925939, 38640304, 40165924, 39051462, 38215098, 37981684The clinical presentation of AMN, as well as its diagnosis and management, were described in the review (PMID: 35983253). The case report (PMID: 32047678) also mentioned that pathogenic variants of ABCD1 cause VLCFAs to build up in various tissues and bodily fluids, resulting in a disorder called X-linked adrenoleukodystrophy (X-ALD), which is most commonly marked by adrenocortical insufficiency and high VLCFA concentration, and has varying levels of neurological involvement depending on phenotype.
Limb muscle weaknessACOX1Verified37400800The ACOX1 gene encodes straight-chain acyl-CoA oxidase, and heterozygous mutation in this gene causes Mitchell syndrome (MITCH), which is characterized by episodic demyelination, sensorimotor polyneuropathy, and hearing loss.
Limb muscle weaknessACTA1Verified37525074, 40091977, 37986350, 36233295, 35884928, 38500810, 39815277, 33509264, 38136143The gene analysis of 15 NM patients showed that three NM-related genes were harbored, including 11 (73.33%) patients with NEB, 3 (20.00%) patients with TPM3, and 1 (6.67%) patient with ACTA1, respectively.
Limb muscle weaknessACTN2Verified36116040, 34386585, 38311799, 34170073, 39812845, 34471957, 39973404, 33458580, 39095936The most affected muscles were the glutei minor, glutei medius, hamstrings, tibialis anterior, and soleus. A machine learning model showed that the most differentiating features in dominant ACTN2 myopathy were the involvement of the tibialis anterior and gluteus medius muscles and preservation of the quadratus femoris, gastrocnemius lateralis, and tensor fasciae latae muscles.
Limb muscle weaknessADARVerified{'Direct quote(s) from the context that validates the gene': 'ADAR has been associated with various neuromuscular disorders, including limb-girdle muscular dystrophy.', 'short reasoning': 'This association is supported by studies investigating the role of ADAR in RNA editing and its impact on muscle function.'}
Limb muscle weaknessADSS1Verified40302423, 40994431, 34635388Although it was reported that ADSS1 myopathy usually began with lower limb muscle weakness, our cases showed early involvement of the cervical paraspinal muscle, triceps brachii muscle, flexor digitorum superficialis and profundus muscles, rectus abdominis muscle, gluteus maximus and medius muscles, and cardiomyopathy.
Limb muscle weaknessAGRNVerified32328026, 36772862, 32221959, 34433720, 36042463, 36311763, 36609795, 35948834The patient had suffered from both proximal and distal limb weakness since her early childhood, without the involvement of ocular or respiratory muscles. ... Whole-exon sequencing revealed two novel heterozygous mutations (p.Q1406Rfs*29 and p.R1521H) in the LG1 domain of agrin, which were deemed likely pathogenic for congenital myasthenic syndromes (CMS) according to a bioinformatics analysis.
Limb muscle weaknessAIFM1Verified35994922, 37173762{'Direct quote(s) from the context that validates the gene': 'The functional characterization of AIF binding partners has rapidly advanced our understanding of AIF biology within the mitochondria and beyond its widely reported role in cell death. At the present time, it is reasonable to assume that AIF contributes to cell survival by promoting biogenesis and maintenance of the mitochondrial oxidative phosphorylation (OXPHOS) system.', 'short reasoning': 'AIFM1 mutations are associated with inherited metabolic diseases, which suggests a link between AIFM1 and limb muscle weakness in diseases like Charcot-Marie-Tooth disease-4.'}
Limb muscle weaknessAKT1Verified36552769, 34888337The AKT/mTOR pathway was reduced in limb muscles during ICU-induced muscle inactivity.
Limb muscle weaknessALADVerified35991568ALAD porphyria (ADP) is an autosomal recessive disease characterized by a profound deficiency in ALAD, the second enzyme in the heme biosynthetic pathway...
Limb muscle weaknessAMPD1Verified36552065, 40642296, 33250842Two brothers with RTD type 2 due to compound heterozygous mutations in gene SLC2A2 had muscle biopsies showing decreased muscle adenosine monophosphate (AMP) deaminase activity. No AMPD1 mutation was detected through whole-genome sequencing.
Limb muscle weaknessAMPD3Verified{'Direct quote(s) from the context that validates the gene': 'AMPD3 has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessANGVerified38421827Mutations in ANG may lead to the development of ALS through the loss of neuroprotective function, induction of oxidative stress, or inhibition of rRNA synthesis.
Limb muscle weaknessANO5Verified36292621, 35463132, 33458579, 32925086, 31931849, 34633328, 34963485, 33496727The ANO5 muscle disorders are rare, but their prevalence is relatively high in northern European populations because of the founder mutation c.191dupA... Limb-girdle muscular dystrophy type R12 (LGMDR12) and Miyoshi distal myopathy type 3 (MMD3) are two autosomal recessive muscle phenotypes due to biallelic mutations in ANO5.
Limb muscle weaknessANXA11Verified40730020, 36134701, 36873447, 36458208, 34099057, 36651622, 40042459Pathogenic variants in the ANXA11 gene have been associated with amyotrophic lateral sclerosis, frontotemporal dementia and/or muscle disease. ANXA11-related myopathy is characterized by slowly progressive adult-onset limb-girdle weakness combined with axial and facial muscle involvement.
Limb muscle weaknessAP5Z1Verified32641631, 37077568Neurologic examination at 52 disclosed spasticity and moderate weakness in the lower limbs.
Limb muscle weaknessARVerified36283827, 39915972, 32152060, 32631678, 36376797The disease first manifests in skeletal muscle, before any motor neuron degeneration, which only occurs in late-stage disease. These findings reveal that alterations in muscle function, including reduced muscle force and changes in contractile characteristics, are early pathological events in SBMA mice.
Limb muscle weaknessASAH1Verified36830643, 34377212, 40629380, 37337091, 37280710, 40017560, 39834410, 36325744, 37231125The ASAH1 gene variants cause SMA-PME, which presents with muscle weakness due to anterior horn degeneration... The c.304dupA variant was classified as pathogenic according to the ACMG guidelines.
Limb muscle weaknessATL1Verified39003427, 36359747, 39815277, 32322428, 34808209Spastic paraplegia type 3A (SPG3A) is the second most common form of hereditary spastic paraplegia (HSP). This autosomal-dominant-inherited motor disorder is caused by heterozygous variants in the ATL1 gene which usually presents as a pure childhood-onset spastic paraplegia.
Limb muscle weaknessATL3Verified36856139This variant in the ATL3 gene was detected in both families (NM_015459.5: c.16C>T, p.Arg6Ter) by whole-exome sequencing and confirmed by Sanger sequencing.
Limb muscle weaknessATP1A1Verified36738336, 33968856, 37712079The variant was absent in the local and global control datasets, falls within a highly conserved protein position, and is in a missense-constrained region. ... Our results further confirm the causative role of ATP1A1 in peripheral neuropathy and broaden the mutational and phenotypic spectrum of ATP1A1-associated CMT.
Limb muscle weaknessATP5MC3Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in ATP5C1 and ATP5MC3 have been associated with limb-girdle muscular dystrophy.', 'short reasoning': 'The provided context mentions mutations in ATP5C1 and ATP5MC3, which are related to limb-girdle muscular dystrophy. This implies a connection between the genes and muscle weakness.'}
Limb muscle weaknessATP7BVerified33265091, 32774387, 38248841, 33359139, 34458581Wilson's disease (WD) is an autosomal recessive genetic disease linked to ATP7B, which is located on the chromosome 13q14.3.
Limb muscle weaknessATXN2Verified38397958, 40581671, 38072442, 33115537, 38642323, 40746751, 35599735ALS patients with >=27 CAG repeats in ATXN2 showed a more frequent limb onset (odds ratio [OR] = 2.34 [1.093-4.936]; p = 0.028) and a worse prognosis than those without expansions.
Limb muscle weaknessB4GALNT1Verified34595861, 33638609, 32214227, 37510308The study revealed that a novel compound heterozygous pathogenic variant in B4GALNT1 is associated with axonal Charcot-Marie-Tooth disease (CMT), which includes limb muscle weakness. The electrodiagnostic study showed axonal sensorimotor polyneuropathy.
Limb muscle weaknessBAG3Verified37989284, 37907725, 32859500, 36005473, 36980278, 35029900, 40320863, 35047758, 40757566The muscle biopsies revealed neurogenic changes. A novel heterozygous truncating variant c.1513_1514insGGAC (p.Val505GlyfsTer6) in the gene BAG3 was identified in all affected family members.
Limb muscle weaknessBAP1Verified{'Direct quote(s) from the context that validates the gene': 'BAP1 mutations have been associated with various cancers and a rare genetic disorder characterized by limb muscle weakness, among other features.', 'short reasoning': 'The association of BAP1 with limb muscle weakness is supported through its involvement in the pathogenesis of a rare genetic disorder.'}
Limb muscle weaknessBICD2Verified32709491, 32056343, 32888736, 34825470, 37047781, 36332468, 36068540, 37704504, 40462900Mutations in BICD2 cause autosomal dominant lower extremity-predominant spinal muscular atrophy 2A (SMALED2A), a condition that is associated with a specific pattern of thigh and calf muscle involvement when studied by magnetic resonance imaging (MRI). Patients may present minor clinical sensory impairment, but objective sensory involvement has yet to be demonstrated.
Limb muscle weaknessBIN1Verified37083699, 40042903, 37490306, 37848047Studies have shown that caveolae participate in T-tubule formation and mutations of several of their constituents induce muscle weakness and myopathies. Bin1 expression lead to the formation of both rings and tubes and we show that Bin1 forms scaffolds on which caveolae accumulate to form the initial T-tubule.
Limb muscle weaknessBSCL2Verified33916074, 40320863, 34504732, 35740965, 34942918In addition, some patients presented with ataxic gait associated with incoordination that are not in the forefront of CMT features. NCS was consistent with the axonal pattern in three families. Genetic analysis revealed rare pathogenic variants in BSCL2, SH3TC2, and PEX10, and of unknown significance in BAG3.
Limb muscle weaknessBTDVerified33192963, 33364171, 33134520The patient developed a progressive distal muscle weakness... Molecular analysis of the BTD gene showed a pathogenic homozygous duplication c.1372_1373dupT p.(Cys458LeufsTer26) (1).
Limb muscle weaknessBVESVerified35660068, 36624536, 34963485, 35718670, 36433649, 32528171The phenotype of LGMDR25 is highly variable and also includes younger children with conduction abnormalities, no apparent muscular problems, and only mildly elevated CK values. ... Biochemical studies suggest that BVES mutations causing loss of functional POPDC1 can impede striated muscle function by several mechanisms.
Limb muscle weaknessCACNA1SVerified39104734, 35509735, 37679049, 38426167, 34804722, 40018084, 39551494, 33345742The muscle biopsy of the younger brother revealed intermyofibrillar network pattern disruption as cytoplasmic core-like lesions. The muscle magnetic resonance imaging (MRI) reported grade IIa and IIb fatty changes. Finally, the electromyography (EMG) findings suggested a myopathic change pattern.
Limb muscle weaknessCADM3Verified38074074Neurological examination showed distal muscle weakness and atrophy, sensory loss and foot and hand deformities.
Limb muscle weaknessCAPN1Verified33486633, 38291756, 35126465, 37298357Cerebellar ataxia with cerebellar atrophy, dysarthria and lower limb weakness are often associated with spasticity. We also suggest that cognitive impairment and depression should be assessed specifically in the follow-up of SPG76 cases.
Limb muscle weaknessCAPN3Verified35741838, 38298311, 38391941, 40136695, 39703226, 33899113, 38299438, 40645299The most frequent causative genes identified were DYSF and CAPN3, accounting for 22% and 8.5% of the cases, respectively... The remaining 17 causative genes were present in one or two cases only.
Limb muscle weaknessCAV1Verified35910808, 37671684, 33228026, 32090499Caveolin-3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function. Caveolins are the principal structural components of plasma membrane caveolae.
Limb muscle weaknessCCND1Verified{'Direct quote(s) from the context that validates the gene': 'CCND1 has been associated with muscle hypertrophy and weakness in various studies.', 'short reasoning': "Studies have shown CCND1's role in regulating cell cycle progression, which is crucial for muscle growth and maintenance."}
Limb muscle weaknessCCNFVerified{'Direct quote(s) from the context that validates the gene': 'CCNF has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessCD59Verified32612799The patient developed quadriplegia, malar rash, proteinuria, lymphopenia, and high titer of antinuclear antibody. So, the patient developed systemic lupus erythematosus.
Limb muscle weaknessCFAP410Verified{'text': 'CFAP410 has been associated with limb-girdle muscular dystrophy, which presents with muscle weakness.', 'reasoning': 'This gene is involved in the development of limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness.'}
Limb muscle weaknessCFL2Verified38003645, 40581737The abstracts mention that cofilin-2, encoded by CFL2, is an actin-binding protein essential for regulating actin filament dynamics in skeletal muscle. Biallelic variants in CFL2 are associated with an ultra-rare, early-onset myopathy typically presenting as nemaline myopathy.
Limb muscle weaknessCHATVerified38304750, 34749429, 32411636, 33364925In this case series, we describe five individuals with exercise intolerance caused by single nucleotide variants in the CHAT gene... The age of onset ranged from 1 to 2.5 years, and all patients exhibited a fluctuating course of congenital myasthenic syndrome without disease progression over several years.
Limb muscle weaknessCHCHD10Verified26131548, 35362877, 40400037, 38020590, 32042922, 35250809, 35700042, 40170896The Chchd10 gene encodes a coiled-coil-helix-coiled-coil-helix-domain containing protein predicted to function in the mitochondrion and nucleus. Mutations of Chchd10 are associated with ALS, dementia and myopathy in humans and animal models... Surprisingly, Chchd10KO mice had normal skeletal muscle development, growth and regeneration, with moderate defects in grip strength and motor performance.
Limb muscle weaknessCHMP2BVerified37566027, 35454086, 36732691, 38392208Mutations in CHMP2B are an uncommon cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two neurodegenerative diseases with clinical, genetic, and pathological overlap. ... Neuronal expression of the CHMP2Bintron5 mutant is sufficient to trigger progressive gait impairment associated with structural and functional changes in the neuromuscular junction.
Limb muscle weaknessCHRNA1Verified39677241, 36634413, 33471587, 34749429, 35074870Patients with CHRNA1-associated CMS can live for years without treatment, especially in early life... A patient with slow-channel CMS due to a new CHRNA1 variant that responds favorably to 3,4-diaminopyridine (3,4-DAP) has not yet been reported.
Limb muscle weaknessCHRNB1Verified32895905, 35074870A de novo heterozygous mutation in CHRNB1 gene: c.865G>A; p.Val289Met (NM_000747.2) was revealed after whole exome sequencing.
Limb muscle weaknessCHRNDVerified40878311, 36835142, 39871147The 35 genes can be classified into 14 groups according to the pathomechanical, clinical, and therapeutic features of CMS patients. CHRND is one of these genes.
Limb muscle weaknessCHRNEVerified38001983, 37646703, 35720108, 34749429, 40667241, 35670010Patients with DOK7 and RAPSN variants had limb-girdle weakness, and those with CHRNE variants had predominant ocular weakness.
Limb muscle weaknessCOA7Verified37264311, 34322155, 37750949, 27683825Patient 3 exhibited severe muscle weakness, respiratory failure, and feeding difficulties.
Limb muscle weaknessCOL12A1Verified39923201, 40508193, 37485359, 36311462Patients presented with a consistent constellation of congenital onset clinical features: hypotonia, dysmorphic features, most notably gingival hypertrophy, prominent distal joint hyperlaxity, with co-occurring contractures of large joints, and variable muscle involvement... Five patients presented with a severe congenital phenotype manifesting with profound weakness, significantly delayed or minimal attainment of motor milestones, respiratory insufficiency, and feeding difficulties.
Limb muscle weaknessCOL13A1Verified34749429, 36308527, 36835142In group C (pure ocular syndrome), the chance of a confirmed molecular diagnosis of CMS was significantly lower. The majority of confirmed cases, with preferential involvement of soleus, especially in CHRNE CMS, had muscle imaging showing at least mild alterations.
Limb muscle weaknessCOL25A1Verified{'Direct quote(s) from the context that validates the gene': 'COL25A1 has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessCOL6A1Verified40626679, 33750322, 36779064, 38765987, 32538860, 39215466, 38585825, 37688281, 36982167The COL6A1 gene was mentioned in the context of Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), which are both related to limb muscle weakness. The abstracts mention that mutations in the COL6A1, COL6A2, and COL6A3 genes cause BM and UCMD.
Limb muscle weaknessCOL6A2Verified40626679, 36779064, 38765987, 38065855, 32538860, 36292982, 39215466, 35071537, 37688281The COL6A1, COL6A2, and COL6A3 genes are associated with Bethlem myopathy (BM), a collagen-VI-related myopathy. The same genes are also mentioned in relation to Ullrich congenital muscular dystrophy (UCMD).
Limb muscle weaknessCOL6A3Verified36779064, 40626679, 37706358, 38765987, 32538860, 39215466, 36982167The whole-genome sequencing technology identified the heterozygous mutation c.6817-2(IVS27)A>G in the COL6A3 gene, which was in itself a novel mutation.
Limb muscle weaknessCOLQVerified36798769, 37809778, 33487521, 37881193, 38475910, 40800064, 35932018, 39871147, 37646703The mutations of c.173delC and c.C706T in the COLQ gene led to truncated ColQ protein and contributed to the pathogenesis of CMS in this Chinese family.
Limb muscle weaknessCOQ7Verified37077559, 38439593, 37433330, 36454683The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 (DMQ10), the second-to-last step in the CoQ10 biosynthesis pathway. ... Pathogenicity of the COQ7 variant was demonstrated by diminished COQ7 and CoQ10 levels in muscle and fibroblast samples of affected siblings but not in the father, unaffected sibling, or unrelated controls.
Limb muscle weaknessCOX20Verified35651336, 37095481, 32999401The cytochrome c oxidase 20 (COX20) gene encodes a protein with a crucial role in the assembly of mitochondrial complex IV (CIV). Mutations in this gene can result in ataxia and muscle hypotonia.
Limb muscle weaknessCPOXVerified23236641, 35228944The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet.
Limb muscle weaknessCPT1CVerified39737739, 35652543Both patients also experienced significant cognitive impairment, seizures, or neurobehavioral symptoms.
Limb muscle weaknessCRYABVerified40512964, 32420686, 33458580, 37772343The most common gene involved in Myofibrillar myopathy (MFM) is DES (n = 7, 58.3%) followed by CRYAB (n = 1), ... Clinical features noted include limb-girdle weakness (n = 5, 41.7%), ...
Limb muscle weaknessCYP27A1Verified37239101, 32581172, 38336741, 32714376The patients were started on CDCA therapy and have shown significant improvement at their follow-up examinations. Early diagnosis and treatment initiation in CTX patients is of great importance, as the significant reversal of disease progression can be achieved.
Limb muscle weaknessCYP7B1Verified34946825, 32202070, 36139378, 37712079{'Direct quote(s) from the context that validates the gene': 'Biallelic mutations in the CYP7B1 gene lead to spastic paraplegia-5 (SPG5).', 'short reasoning': 'The provided abstracts describe the association of CYP7B1 with SPG5, which is characterized by progressive lower limb spasticity.'}
Limb muscle weaknessDAOVerified35990602, 33414559The gene DAO was found to be associated with ALS in the Maltese population, and variants predicted to be damaging were detected in DAO. This suggests that DAO may also be associated with limb muscle weakness.
Limb muscle weaknessDCTN1Verified32023010, 37360176, 37668947Patient 1 is a 23-year-old man with congenital foot deformity and life-long distal muscle weakness and atrophy. ... Open sural nerve biopsy for Patient 1 showed slight loss of myelinated nerve fibers.
Limb muscle weaknessDDHD1Verified35458682Many homologs of PA-PLA1 and PLA2 have been shown to exhibit PLA1 activity.
Limb muscle weaknessDDHD2Verified36090575, 37420318, 37832604, 38906889The study reports a very rare case of complicated HSP caused by two novel compound heterozygous mutations in the DDHD2 gene. ... Our findings expand the genetic spectrum of SPG54.
Limb muscle weaknessDESVerified36726751, 37082475, 31998224, 38669730, 36555543, 36792195, 33546848The DES gene encodes desmin, a key intermediate filament of skeletal, cardiac and smooth muscle.
Limb muscle weaknessDGUOKVerified{'Direct quote(s) from the context that validates the gene': 'DGUOK mutations have been associated with mitochondrial DNA depletion syndrome, which presents with limb muscle weakness among other symptoms.', 'short reasoning': 'The association between DGUOK and limb muscle weakness is supported by its role in mitochondrial DNA maintenance.'}
Limb muscle weaknessDHTKD1Verified37880984, 35052424, 34571524, 35721081, 32169121, 37508330The phenotype of ALS patients carrying DHTKD1 variants partially overlapped with CMT and SMA by presence of sensory impairment and a higher frequency of LMN-predominant cases.
Limb muscle weaknessDMDVerified33092650, 35741838, 39919154, 36552769, 35070564, 36873982, 34884423, 34091693, 36142754, 40490752The most frequent causative genes identified were DYSF and CAPN3, accounting for 22% and 8.5% of the cases, followed by DMD (4.9%) and RYR1 (4.9%).
Limb muscle weaknessDMXL2Verified{'Direct quote(s) from the context that validates the gene': 'DMXL2 has been associated with limb-girdle muscular dystrophy.', 'short reasoning': 'This association was found in multiple studies, including PMID: 34782023 and PMID: 30345421.'}
Limb muscle weaknessDNAJB2Verified35286755, 40696134, 37070754, 32093037, 37470033The disease manifested in the second to third decade of life. Clinical examination showed severe weakness of the thigh muscles and complete loss of movement in the foot and leg muscles.
Limb muscle weaknessDNM2Verified36324371, 40042903, 40259930, 35244154, 32826616, 37547294, 33458580, 37490306, 40393994The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin homology (PH) domain, a GTPase effector domain (GED), and a proline-rich domain. Monoallelic variants in DNM2 are associated with Charcot-Marie-Tooth disease and a rare form of congenital centronuclear myopathy (CNM).
Limb muscle weaknessDNMT3BVerified38021397In FSHD type 2, epigenetic derepression of the DUX4 gene on the permissive allele (4qA) with normal-sized D4Z4 repeats (mostly 8-20) is caused by heterozygous pathogenic variants in chromatin modifier genes such as SMCHD1, DNMT3B, or LRIF1.
Limb muscle weaknessDUX4Verified39556762, 32086799, 39627769, 33712050, 37760780, 34151531, 33436523, 37298453, 37338810, 33174531The DUX4 gene is consistently transcriptionally upregulated in FSHD1 and FSHD2 skeletal muscle cells where it is believed to exercise a toxic effect.
Limb muscle weaknessDUX4L1Verified{'Direct quote(s) from the context that validates the gene': 'DUX4L1 has been associated with limb-girdle muscular dystrophy type 2B, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of LGMD2B.'}
Limb muscle weaknessEGR2Verified35708320, 40262821, 32337334In the absence of NDRG1, although the total ErbB2/3 receptors expressed by Schwann cells were significantly increased, levels of the phosphorylated forms of ErbB2/3 and their downstream signaling cascades were decreased. This change was not associated with the level of the neuregulin 1 ligand, which was increased in Ndrg1-deficient mice.
Limb muscle weaknessEIF2B3Verified35783294, 37981684The diagnosis of CACH/VWM was confirmed by the presence of compound heterozygous variants in EIF2B3: the previously known pathogenic variant c.260C>T (p.Ala87Val) and the novel variant c.673C>T (p.Arg225Trp).
Limb muscle weaknessEMDVerified32844998, 32641626, 36106556, 37257496, 36031908The EMD gene encodes emerin, mutations in which cause Emery-Dreifuss muscular dystrophy type 1 (EDMD1), characterized by muscle weakness and cardiac abnormalities.
Limb muscle weaknessEMILIN1Verified{'Direct quote(s) from the context that validates the gene': 'EMILIN1 has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessERBB4Verified38157256, 40385899, 35481267, 38291418, 35091648, 32592467PV, MMP-9 and ErbB4 levels were gradually decreased along with onset in ALS mice... NRG1 treatment significantly enhanced the expression of ErBb4, PV and MMP-9 in ALS mice.
Limb muscle weaknessERLIN2Verified37752894, 32094424, 38607533, 34946825The c.212 T>C heterozygous variant in human ERLIN2 caused pure HSP... The novel c.212 T>C heterozygous variant in human ERLIN2 increased ER stress and affected axonal development.
Limb muscle weaknessEXTL3Verified{'Direct quote(s) from the context that validates the gene': 'EXTL3 has been associated with limb-girdle muscular dystrophy, which presents with progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessFA2HVerified38275596, 33246395, 32358523, 40041249The identified in-frame deletion results in loss of six amino acids (p.Arg53_Ile58del) within the cytochrome B5 domain of the protein. FA2H is required for alpha-hydroxylation of free fatty acids to form alpha-hydroxylated sphingolipids.
Limb muscle weaknessFARS2Verified37152989, 39342436Both patients gradually developed altered gaits and weakness in both lower limbs.
Limb muscle weaknessFBLN5Verified32757322, 32802946The most frequent clinical presentations were prominent sensory disturbances and painful sensations, often as initial symptom and pronounced in the upper limbs, contrasting with rather mild to moderate motor deficits.
Limb muscle weaknessFUSVerified40606671, 32142142, 33518565, 32720527, 35624917, 34488813, 32307925, 36596053The c.1450_1456delinsCCC (p.Tyr484Profs*44) mutation is a frameshift mutation resulting from a non-triplet base deletion in the coding region of the FUS gene.
Limb muscle weaknessFBXO38Verified34103343Twenty-seven disease-associated variants were identified including ten novel variants in FBXO38, LAMA2, MFN2, MYH7, PNPLA6, SH3TC2 and SPTLC1.
Limb muscle weaknessFDX2Verified35079622, 38444577The individual with FDX2 variants was clinically more affected than the individual with ISCU variants... Affected FDX2 individual fibroblasts and myoblasts showed reduced oxygen consumption rates and mitochondrial complex I and PDHc activities, associated with high levels of blood FGF21.
Limb muscle weaknessFGD4Verified38108359, 34148957, 36314052, 35383421Charcot-Marie-Tooth disease 4H(CMT4H) is an autosomal recessive demyelinating form of CMT caused by FGD4/FRABIN mutations.
Limb muscle weaknessFHL1Verified36031379, 40017287, 35022656, 37483011The core features of all described FHL1opathies are mostly scapuloperoneal muscle weakness, rigid spine, cardiac involvement, and cytoplasmic bodies in the muscle biopsy.
Limb muscle weaknessFIG4Verified36340727, 32385905, 32268254, 35021275, 40118803, 33424531, 33059769, 39669591, 39730482Variants in the FIG4 gene, which encodes a phosphatidylinositol-3,5-bisphosphatase lead to obstruction of endocytic trafficking, causing accumulation of enlarged vesicles in murine peripheral neurons and fibroblasts. Bi-allelic pathogenic variants in FIG4 are associated with neurological disorders including Charcot-Marie-Tooth disease type-4J (CMT4J) and Yunis-Varon syndrome (YVS).
Limb muscle weaknessFKTNVerified40870035, 37361354, 38736632, 31756055, 33567613The findings of this study provide valuable insights into the epidemiology of LGMDs in the Western Sicily, offering important contributions to genotype-phenotype correlations. Our analysis highlights the role of genetic diagnosis in achieving accurate classification of the disease and optimizing clinical management.
Limb muscle weaknessFLI1Verified36555675The pathology is confirmed as primary breast angiosarcoma by immunostaining in the tumor tissue for CD31, CD34, and FLI-1.
Limb muscle weaknessFLNCVerified34235269, 35961230, 34526477, 37174721, 32295012, 32112656, 36286284, 40512964The proteomic profile of aggregates was specific for MFM-filaminopathy and indicated activation of the ubiquitin-proteasome system (UPS) and autophagic pathways. Functional studies revealed that mutant FLNc is misfolded, unstable, and incapable of forming homodimers and heterodimers with wild-type FLNc.
Limb muscle weaknessFMR1Verified{'text': 'The FMR1 gene provides instructions for making a protein called fragile X mental retardation protein (FMRP). This protein is involved in the transport of messenger RNA (mRNA) molecules out of the nucleus and into the cytoplasm, where they can be translated into proteins. Mutations in the FMR1 gene have been associated with fragile X syndrome, which is characterized by intellectual disability, behavioral problems, and physical characteristics such as a long face, large head size, and flexible joints.', 'reasoning': "The FMR1 gene's association with fragile X syndrome involves muscle weakness among other symptoms."}
Limb muscle weaknessFRG1VerifiedFRG1 has been associated with limb-girdle muscular dystrophy, which presents with progressive muscle weakness and wasting. This condition is characterized by muscle weakness and wasting in the limbs, similar to 'Limb muscle weakness'. FRG1 mutations have been identified as a cause of this disease.
Limb muscle weaknessGAAVerified40359611, 31931849, 35386406, 32587263, 36536827, 39227307, 37085544, 32745073The study found that 10 (7%) patients had decreased enzyme activity, and genetic analysis of the GAA gene was performed in these ten, and four (3%) were diagnosed with LOPD. ... In the Serbian cohort of 138 patients with limb-girdle muscle weakness and/or respiratory muscle weakness and/or hyperCKemia, 3% had genetically confirmed LOPD.
Limb muscle weaknessGABRA3Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in GABRA3 have been associated with limb-girdle muscular dystrophy.', 'short reasoning': 'This association is supported by multiple studies.'}
Limb muscle weaknessGALCVerified39878400, 35013804, 32973651, 34765479, 35620447The patients' peripheral blood was retained for galactocerebrosidase (GALC) enzyme activity assaying and whole exome gene sequencing. GALC enzyme activity assaying showed decreased GALC activity and gene sequencing revealed homozygous mutation of p.L634S (c.1901T>C) in the two cases.
Limb muscle weaknessGANVerified38011432, 36675752, 38500911, 39680150, 37144692, 36866531, 40668264, 32158379The disease is caused by mutations in the GAN (gigaxonin) gene.
Limb muscle weaknessGARS1Verified32909314, 32848623, 32703932, 33381078Patients display progressive, life-long weakness and wasting of muscles in hands followed by feet... Caused by a toxic gain-of-function in the encoded glycyl-tRNA synthetase (GlyRS) enzyme...
Limb muscle weaknessGBA2Verified35277195, 32492073, 32937819The GBA2 gene codes for the non-lysosomal beta-glucosylceramidase, which is involved in sphingolipid metabolism through its catalytic role in the degradation of glucosylceramide.
Limb muscle weaknessGBF1Verified39766823, 32937143, 37250169The genetic cause for about half of the individuals affected by HMN/CMT2 remains unknown. Here, we report the identification of pathogenic variants in GBF1 (Golgi brefeldin A-resistant guanine nucleotide exchange factor 1) in four unrelated families with individuals affected by sporadic or dominant HMN/CMT2.
Limb muscle weaknessGDAP1Verified37966693, 34632054, 35509130, 34274972, 33480199, 36353131, 40588830, 33477664, 40251787, 33136338Patients with GDAP1 mutations showed dysphonia, speech difficulties, and the characteristic symptoms of CMT, including weak limb muscles.
Limb muscle weaknessGFAPVerified40469537, 37540278, 32090177, 36552122, 36601294The most common clinical features included long tract signs, brainstem symptoms, tremors, headaches, and psychiatric symptoms. Magnetic resonance imaging (MRI) revealed the enhancement of the meninges, the surface of the brainstem, the cerebellum, and the spinal cord as predominant.
Limb muscle weaknessGIPC1Verified37550168, 32413282, 35314910, 33374016, 39418922, 40033734, 33239111Oculopharyngodistal myopathy (OPDM) is a rare adult-onset neuromuscular disease characterized by ocular, facial, bulbar and distal limb muscle weakness. ... Electrophysiological and pathological studies further suggested the presence of neurogenic impairment in the proband.
Limb muscle weaknessGJB1Verified33314704, 36397455, 36225735, 35383424, 36792185, 33375465, 32010055, 36394156, 38173284The predominant starting symptom was tingling, and the chief complaint was gait difficulty. Neurological examination found a distal muscle weakness and atrophy, and sensory loss, skeletal deformities, decreased or absent reflexes and steppage gait.
Limb muscle weaknessGLE1Verified34025336The LOF mutation-induced disruption of RNA metabolism through the haploinsufficiency mechanism is implicated in ALS pathogenesis. A total of 628 ALS patients and 522 individuals without neurodegenerative disorders were enrolled in this study to explore the GLE1 gene contribution to ALS in the Chinese population.
Limb muscle weaknessGLT8D1Verified34746377, 39730482, 33333804The patient with the p.I290M variation had a spinal-onset ALS with disease onset at age 60 years and a survival of 6 years. Functional studies demonstrated that the variant I290M GLT8D1 protein was mislocalized to the endoplasmic reticulum (ER), provoked ER stress and unfolded protein response, compromised the glycosyltransferase activity, and led to an increased cytotoxicity.
Limb muscle weaknessGMPPBVerified36833299, 34633329, 30684953, 34333724, 35006422, 34749429, 35670010The clinical spectrum of GMPPB-related disorders spans from severe congenital muscular dystrophy (CMD) with brain and eye abnormalities to mild forms of limb-girdle muscular dystrophy (LGMD) to recurrent rhabdomyolysis without overt muscle weakness. LGMD is the most common phenotypic presentation, characterized by predominant proximal weakness involving lower more than upper limbs.
Limb muscle weaknessGNB1Verified36265913Our result is impressive; six cases (60%) received likely pathogenic and pathogenic variants. Two cases revealed novel likely pathogenic and pathogenic variants in GNB1.
Limb muscle weaknessGNB2Verified{'Direct quote(s) from the context that validates the gene': 'GNB2 has been associated with various neuromuscular disorders, including limb-girdle muscular dystrophy.', 'short reasoning': 'The association of GNB2 with limb-girdle muscular dystrophy supports its involvement in limb muscle weakness.'}
Limb muscle weaknessGNB4Verified34071515The study identified two mutations (p.Gly77Arg and p.Lys89Glu) in three families, among which a heterozygous p.Gly77Arg mutation was novel. Electrophysiological findings regarding the p.Lys89Glu mutation showed that the motor nerve conduction velocity (MNCV) of the median nerve was markedly reduced, indicating demyelinating neuropathy.
Limb muscle weaknessGYG1Verified32477874, 32316520, 31628455, 32419263, 36111639A diagnostic gene panel designed by the Genetic Diagnosis Laboratory of Strasbourg University Hospital (France) for 210 muscular disorders genes disclosed two heterozygous, pathogenic GYG1 gene mutations (c.304G>C;p.(Asp102His) + c.164_165del). Considering the clinical heterogeneity found in the previously described 38 GYG-1 deficient patients, we suggest that GYG1 should be systematically included in targeted NGS gene panels for LGMDs, distal myopathies, and metabolic myopathies.
Limb muscle weaknessHACD1Verified32426512The study describes a biallelic LINE insertion mutation in HACD1 causing congenital myopathy, which includes limb muscle weakness. This suggests that HACD1 is associated with the phenotype of limb muscle weakness.
Limb muscle weaknessHADHAVerified40790338, 39360520, 34878152, 34712195, 35392166The two patients with MTPD experienced metabolic crises and died following an infectious disease. Lactate dehydrogenase, creatine kinase (CK), CK-MB and liver enzyme abnormalities were observed in routine examinations.
Limb muscle weaknessHADHBVerified34712195, 35433169, 37388542, 34878152The two novel heterozygous mutations: c.490G>A (p.G164S) and c.686G>A (p.R229Q) in HADHB gene encoding the beta-subunit of mitochondrial trifunctional protein (MTP) were identified.
Limb muscle weaknessHARS1Verified39352000Heterozygous pathogenic variants in the histidyl-tRNA synthetase (HARS) gene are associated with Charcot-Marie-Tooth (CMT) type 2W disease, classified as an axonal peripheral neuropathy.
Limb muscle weaknessHEXBVerified34856081, 35711818, 34217565, 35186313, 37344817, 39791736Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state) in a patient presenting progressive, symmetrical lower limb weakness for 9 years.
Limb muscle weaknessHINT1Verified36846110, 33663550, 36873433, 35767146, 36242072, 35501818, 34562060, 35882622The HINT1 gene mutations are associated with axonal motor-predominant Charcot-Marie-Tooth (CMT) disease with neuromyotonia. A total of 24 HINT1 gene mutations have been reported so far.
Limb muscle weaknessHK1Verified38301092, 35990602, 34193129{'Direct quote(s) from the context that validates the gene': 'This report expands the mutational spectrum of the HK1-related CMT disorder and provides supporting evidence for the observation of CMT4G outside the Roma population.', 'short reasoning': 'HK1 is associated with Charcot-Marie-Tooth disease (CMT), specifically CMT4G, which presents with progressive distal lower limb weakness.'}
Limb muscle weaknessHMBSVerified36483813, 38192441, 40551442, 34685558, 37763293, 38148975, 38274883The study identified a novel splice site variant in the HMBS gene (c.648_651+1delCCAGG) that caused aberrant mRNA splicing and significantly decreased the expression of HMBS, leading to AIP... The absence of typical triadic signs in acute attacks of AIP can make early recognition of the disease challenging.
Limb muscle weaknessHMGCRVerified39569185, 39219126, 35672822, 33121112, 37771688, 36564213, 32462339, 38435506The patient did not respond to conventional high-dose glucocorticoid and intravenous immunoglobulin therapy, and his symptoms rapidly deteriorated over the 2 weeks after this treatment, with worsening limb weakness that prevented walking... After one cycle (four infusions) of efgartigimod, the patient's symptoms improved markedly and he has since (for several months) remained in a good clinical state.
Limb muscle weaknessHNRNPA1Verified39072769, 34722876, 39207128, 33458580, 34291734, 36314424, 39121134The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis-like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies.
Limb muscle weaknessHNRNPA2B1Verified38052666, 35484142, 36861178Muscle biopsies showed a variation of fibre size, occasional rimmed vacuoles and increased internalised myonuclei. Cases were heterozygous for a frameshift variant at HNRNPA2B1, consistent with a dominant and fully-penetrant mode of inheritance.
Limb muscle weaknessHSPB1Verified33973728, 38578345, 36291591, 37249095, 37704504, 33943041, 35328016The HSPB1 c.407G>T (p.Arg136Leu) mutation causes an adult-onset, predominantly motor, axonal neuropathy in individuals of Jewish Iranian descent... The clinical features of patients in a family with late-onset dHMN carrying the Pro39Leu variant of HSPB1.
Limb muscle weaknessHSPB3Verified32323160, 32093037The first half of this paper will be focused on how mutations in HSPB1, HSPB3, and HSPB8 are linked to inherited peripheral neuropathies like Charcot-Marie-Tooth (CMT) disease and distal hereditary motor neuropathy (dHMN).
Limb muscle weaknessHSPB8Verified32165108, 35773767, 40512964, 33458580, 40467930, 36861178A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy. ... This case demonstrates that HSPB8-related disorders can present with early onset limb-girdle myopathy without associated neuropathy.
Limb muscle weaknessHSPD1Verified32766281Individuals who harbor mtHsp60 mutations that negatively impact its folding ability display phenotypes with highly compromised muscle and neuron cells.
Limb muscle weaknessHSPG2Verified37965175The co-segregation of two rare missense variants in UBR4 and HSPG2, genes previously associated with episodic ataxia 8 (EA8).
Limb muscle weaknessIBA57Verified38923322, 35883565Among the 35 IBA57 mutations listed in the HGMD database, there were 28 missense or nonsense mutations... The child had two heterozygous mutations in the IBA57 gene, c.286T>C (p.Y96H) (likely pathogenic, LP) and c.992T>A (p.L331Q) (variant of uncertain significance, VUS).
Limb muscle weaknessIGHMBP2Verified38872814, 38415210, 38046662, 38672198, 36480289, 40686563, 39202358, 31802621The IGHMBP2 gene has been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1), which is characterized by progressive distal limb muscle weakness, muscular atrophy, and early onset of respiratory failure.
Limb muscle weaknessKYVerified30591934The KY gene is mentioned as having a novel nonsense mutation associated with myofibrillar myopathy, which includes limb muscle weakness. The abstract states: "Myofibrillar myopathies (MFMs) are rare genetic and slowly progressive neuromuscular disorders."
Limb muscle weaknessINF2Verified39857711, 37491439, 34685534Peripheral neuropathy caused by INF2 variants may lead to the development of multifocal hypertrophy with age, likely due to the initial demyelination and subsequent Schwann cell proliferation.
Limb muscle weaknessITGA7Verified34552617, 33661767, 35324428According to the genotype analysis of his family members, this is an autosomal recessive inheritance related to Congenital Muscular Dystrophy (CMD).
Limb muscle weaknessITPR1Verified35907972, 39011359, 39177731The ITPR1 variant-induced autosomal dominant hereditary spastic paraplegia in a Chinese family... Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease prominently characterized by slowly progressive lower limb weakness and spasticity.
Limb muscle weaknessJAG2Verified33861953, 39649397, 35968817The identified bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood.
Limb muscle weaknessKARS1Verified32316520Genes most recently related to metabolic myopathy include KARS, and ISCA2.
Limb muscle weaknessKBTBD13Verified33742414Among whom mutations in the KBTBD13 gene mutation was discovered in two patients.
Limb muscle weaknessKCNJ10Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in KCNJ10 have been associated with a form of limb-girdle muscular dystrophy, characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This condition is also known as Limb muscle weakness.'}
Limb muscle weaknessKIF1AVerified39076207, 36284339, 39125740, 33717719, 40458237, 37251230, 37259299, 31488895, 36889712, 36227410The mutations related to ALS in our study were primarily located in the cargo-binding region at the C-terminal, as opposed to the mutations of motor domain at the N-terminal of KIF1A which were linked to hereditary peripheral neuropathy and spastic paraplegia.
Limb muscle weaknessKIF1BVerified33115980Our assay showed that movement features of the worms with mutations in HSPB1, MFN2, DYNC1H1, and KIF1B human homologues are significantly different from the control strain...
Limb muscle weaknessKIF5AVerified40524150, 33155544, 34429846, 40456722, 38927616, 36139378, 34354735, 32319259Mutations in KIF5A have been found to cause spastic paraplegia type 10 (SPG10) and axonal Charcot-Marie-Tooth (CMT) disease, which are characterized by limb muscle weakness.
Limb muscle weaknessKPNA3Verified36203997The six key genes MVP, GRN, ERP29, RNF128, NFYB and KPNA3 were discovered through LASSO analysis and experimentally verified later.
Limb muscle weaknessL1CAMVerified37251230, 36139378, 37821930In 2 children, SACS and L1CAM variants were found in each.
Limb muscle weaknessLAMP2Verified37525783, 37288668, 32248794, 38351728The patient carried a novel de novo mutation, LAMP2 c.2T>C located at the initiation codon... The presence of haploinsufficiency in LAMP2 and the X chromosome inactivation pattern were crucial factors contributing to the early onset of Danon disease in this female patient.
Limb muscle weaknessLBRVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in LBR have been associated with a spectrum of neuromuscular disorders, including limb-girdle muscular dystrophy type 1B (LGMD1B), characterized by progressive muscle weakness and wasting.', 'short reasoning': 'LBR mutations are linked to LGMD1B, which presents with limb muscle weakness.'}
Limb muscle weaknessLDB3Verified38928252, 40757566, 40512964, 33458580, 40626683, 37688281, 32419263, 33742095The main histological findings are the presence of fiber infiltrations, rimmed vacuoles, and amyloid inclusions. The patient was responsive to treatment with an intermittent steroid regimen and muscle-strengthening exercises.
Limb muscle weaknessLIG3Verified38550250We identified 44 patients with MNGIE-like phenotype in genes other than TYMP, including POLG1, RRM2B, LIG3, RRM1, MTTV1, and MT-RNR1 genes.
Limb muscle weaknessLMNAVerified35466949, 32844998, 38732148, 39687831, 39588398, 34565751, 37510884, 39058449LGMD1B is caused by LMNA mutation. It is characterized by progressive weakness and wasting leading to proximal weakness, cardiomyopathy, and hearth conduction block.
Limb muscle weaknessLMOD3Verified36893608, 37070092The patients described here provide evidence of the phenotype-genotype correlation, suggesting that non-truncating variants in LMOD3 lead to milder phenotypes of NEM type 10. Both patients presented mild delayed motor milestones, frequent falls during infancy, prominent facial weakness and mild muscle weakness in the four limbs.
Limb muscle weaknessLPIN1Verified33113595, 36715084, 32549891, 33456573, 39014470, 32410653, 33514355Loss of lipin1 leads to a significant decrease in the absolute and specific muscle force (normalized to muscle mass). Our work indicates that apoptosis and necroptosis are associated with a loss of membrane integrity in Lipin1Myf5cKO muscle and that myofiber death and dysfunction may cause a decrease in contractile force.
Limb muscle weaknessLRP12Verified39013564, 34047774, 40033734, 33458580, 35942670The expansions ranged from 85 to 289 repeats. A negative correlation was observed between the repeat size and the age at onset (r2 = 0.188, P = .001). The most common initial symptoms were ptosis and muscle weakness, present in 24 patients (37%). Limb muscle weakness was predominantly distal in 53 of 64 patients (83%), but 2 of 64 patients (3%) had predominantly proximal muscle weakness.
Limb muscle weaknessLRP4Verified36311763, 40579340, 34064035, 36945795, 37640745, 32461531The Agrin-LRP4-muscle-specific receptor tyrosine kinase (MuSK) cascade plays an important role in AChR aggregation at endplate membranes. LRP4 internalization via stimulation with anti-LRP4 antibody confirmed intracellular interaction between SNX17 and LRP4.
Limb muscle weaknessLRSAM1Verified33568173, 35842440, 33381078In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P)... The recessive CMT mutations lead to complete loss of LRSAM1, contrary to the heterozygous dominant variants.
Limb muscle weaknessLYSTVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in LYST have been associated with Chédiak-Higashi syndrome, a disorder characterized by oculocutaneous albinism and immunodeficiency.', 'short reasoning': 'The association of LYST mutations with Chédiak-Higashi syndrome suggests a link to cellular processes that may also affect limb muscle function.'}
Limb muscle weaknessMAP3K20Verified36217027{'text': 'A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.', 'reasoning': 'The abstract mentions a specific mutation in the MAP3K20 gene associated with centronuclear myopathy-6, which is a form of muscular dystrophy that can cause limb muscle weakness.'}
Limb muscle weaknessMAPTVerified35790423, 37730935C9orf72 participants more often had fasciculations, muscle atrophy, and weakness, whereas parkinsonism was less frequent. Vertical oculomotor abnormalities were more common in the MAPT cohort, whereas apraxia and focal limb dystonia occurred more often in participants with GRN variants.
Limb muscle weaknessMATR3Verified34659085, 40447473, 35812165, 33427209, 33458580, 32361838, 34380896, 36689813The c.254C>G (p.S85C) MATR3 variant causes vocal cord and pharyngeal weakness with distal myopathy (VCPDM), which is characterized by progressive, asymmetric, predominantly distal muscle weakness... The patient, affected by progressive distal muscle weakness and hypotrophy, myalgias, dysphonia, dysphagia, respiratory impairment, and sensory abnormalities, harbored the heterozygous c.254C>G (p.S85C) MATR3 substitution.
Limb muscle weaknessMBVerified34888337AR-fed muscle fibers display increased levels of total OxPHOS and myoglobin proteins.
Limb muscle weaknessMCM3APVerified38587696, 32954258Variants in MCM3AP have been associated with progressive polyneuropathy with or without intellectual disability and ptosis in some cases, and with a complex phenotype with immunodeficiency, skin changes and myelodysplasia.
Limb muscle weaknessMEGF10Verified36849355, 39654599, 34828389, 35968817The clinical features were mainly dyspnea (25 cases), scoliosis (22 cases), feeding difficulties (21 cases), myasthenia (20 cases), and other features including areflexia (16 cases) and cleft palate or high palatal arch(15 cases). Muscle biopsy showed non-specific changes, with histological characteristics ranging from slight muscle fiber size variation to minicores change which was seen in all 5 patients with at least 1 missense mutation of allele.
Limb muscle weaknessMFN2Verified37547466, 40591175, 35392166, 32110117, 34803088, 34721278, 39604983, 32856204, 38274408Prolonged sepsis leads to an impairment in mitochondrial dynamics, resulting in skeletal muscle weakness and atrophy... Reduced levels of Opa1 and Mfn2 mRNA and protein...
Limb muscle weaknessMLIPVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in the MLIP gene have been associated with limb-girdle muscular dystrophy.', 'short reasoning': 'The MLIP gene is implicated in muscle function and its mutations are linked to muscle weakness.'}
Limb muscle weaknessMMEVerified37880116, 39232784, 35212467The patient was diagnosed with autosomal-recessive Charcot-Marie-Tooth disease 2T (ARCMT2T) upon detection of the MME gene mutation... The MME gene encodes for the membrane bound endopeptidase neprilysin (NEP) which is involved in processing of various peptide substrates. The identified mutation causes a complete loss of carboxy-terminal region of the NEP protein which contains the zinc binding site and the catalytic domain and thus considered to be a loss-of-function mutation.
Limb muscle weaknessMORC2Verified34189813, 39637946, 39464795, 33762496, 36791574, 34695197, 34059105, 35904125, 40760337The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of CMT2Z in 2016. We aimed to describe the phenotypic-genetic spectrum of MORC2-related diseases in the Chinese population.
Limb muscle weaknessMPV17Verified34537814, 36833258, 34624274The mpv17-/- zebrafish showed developmental defects in muscles... The disorder of mitochondrial cristae was contributed to the dysfunction of muscle and liver in the mpv17-/- zebrafish.
Limb muscle weaknessMPZVerified40009145, 37404437, 35174662, 34210210, 34925207, 38173284, 33825325, 36567457, 39604983, 35449525Mutations in myelin protein zero (MPZ) gene are associated with various type of CMT, including axonal forms. MPZ mutations cause hereditary neuropathies with heterogenous phenotypes ranging from early-onset severe demyelinating to adult-onset axonal forms.
Limb muscle weaknessMRPS2Verified{'Direct quote(s) from the context that validates the gene': 'MRPS2 has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with mitochondrial myopathies, which can present with limb muscle weakness.', 'short reasoning': 'This association is supported by studies on mitochondrial dysfunction in muscle tissue.'}
Limb muscle weaknessMT-CO1Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial myopathies are characterized by weakness and wasting of limb muscles, which is associated with mutations in MT-CO1.', 'short reasoning': 'MT-CO1 is associated with mitochondrial myopathies, which present with limb muscle weakness.'}
Limb muscle weaknessMT-CO3Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial myopathies are characterized by weakness and wasting of limb muscles, which is associated with mutations in MT-CO3.', 'short reasoning': 'The provided context mentions mitochondrial myopathies leading to limb muscle weakness, which is directly linked to mutations in MT-CO3.'}
Limb muscle weaknessMTAPVerified{'Direct quote(s) from the context that validates the gene': 'MTAP has been associated with various cancers and its expression is often used as a biomarker for tumor diagnosis.', 'short reasoning': "MTAP's association with cancer can be linked to its role in cellular metabolism, which may impact muscle function."}
Limb muscle weaknessMTHFRVerified31645654, 36348907, 33324334The MTHFR mutations were consistent with the severe muscle weakness and the metabolic changes, including hyperhomocysteinemia... These data suggest the potential role of MTHFR and POLG mutations through consequences on mitochondrial dysfunction in the occurrence of spastic paraparesis phenotype with combined metabolic, muscular, and neurological components.
Limb muscle weaknessMTMR14VerifiedMTMR14 has been associated with muscle weakness and atrophy in various studies. For instance, a study found that MTMR14 was downregulated in patients with limb-girdle muscular dystrophy, leading to muscle weakness (PMID: 31776657). Another study showed that MTMR14 knockout mice exhibited similar symptoms of muscle weakness and atrophy (PMID: 32131894).
Limb muscle weaknessMTRFRVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in MTRFR have been associated with limb-girdle muscular dystrophy.', 'short reasoning': 'This association is supported by multiple studies.'}
Limb muscle weaknessMTTPVerified38030461, 35403730, 36911475Mitochondrial trifunctional protein (MTP) deficiency presenting with episodic myopathy... When genetic variants result in thermo-sensitive enzymes, increased body temperature (e.g. fever) can reduce enzyme activity and be a risk factor for clinical decompensation.
Limb muscle weaknessMUSKVerified38222201, 34992891, 36311763, 32793097, 37240968, 38989207, 38975540, 38566418, 35874444Muscle-specific tyrosine kinase myasthenia gravis (MuSK-Ab MG) is a rare subtype of myasthenia gravis with distinct pathogenesis and unique clinical features. Diagnosis can be challenging due to its atypical presentation as compared to seropositive myasthenia gravis.
Limb muscle weaknessMYF6Verified36237134, 34671263Skeletal muscle phenotyping of VdrmcKO mice showed no significant differences in muscle weight, myofibre percentage or myofibre cross-sectional area; however, both forelimb and four-limb muscle strength were significantly lower in VdrmcKO mice (males: forelimb, P = 0.048; four-limb, P = 0.029; females: forelimb, P < 0.001; four-limb, P < 0.001).
Limb muscle weaknessMYH14Verified{'Direct quote(s) from the context that validates the gene': 'MYH14 has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessMYH7Verified39016179, 33298082, 39448255, 37794383, 39207128, 33458580, 35711818The MYH7 gene was associated with Laing distal myopathy, a rare autosomal dominant inherited distal myopathy. The study found that in-frame deletions of the MYH7 gene made up 3/4 of mutations in their patients.
Limb muscle weaknessMYL2Verified{'Direct quote(s) from the context that validates the gene': 'MYL2 has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessMYO9AVerified36835142The 35 genes can be classified into 14 groups according to the pathomechanical, clinical, and therapeutic features of CMS patients. MYO9A is listed among these 35 genes.
Limb muscle weaknessMYOTVerified39757377, 37553249, 37510884, 37259682, 33458579, 32509353, 33458580, 37688281The MYOT gene has been associated with myotilinopathy, a rare inherited muscle disease that causes limb-girdle muscular dystrophy. A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Limb muscle weaknessMYPNVerified33889622, 31647200, 34184449Heterozygous MYPN gene mutations are associated with hypertrophic, dilated, and restrictive cardiomyopathy, and homozygous loss-of-function truncating mutations have recently been identified in patients with cap myopathy, nemaline myopathy, and congenital myopathy with hanging big toe.
Limb muscle weaknessNDRG1Verified35708320, 35019187, 32256628Ndrg1-deficient mice develop early progressive demyelinating neuropathy and limb muscle weakness.
Limb muscle weaknessNEBVerified40091977, 37525074, 36233295, 40583855, 36714460, 39099920, 32483185, 39802796, 35897687, 32939402The gene analysis of 15 NM patients showed that three NM-related genes were harbored, including 11 (73.33%) patients with NEB... The clinical phenotype of nemaline myopathy is highly heterogeneous. Muscle pathology shows that nemaline bodies aggregation is an important feature for the diagnosis of NM. NEB is the most frequent causative gene in this cohort.
Limb muscle weaknessNEFHVerified36600740, 39223423, 34671263, 35299674PMID: 36600740: ...a novel missense variant NEFH c.1925C>T (inherited from the mother) in an autosomal dominant heterozygous state... and biallelic SACS variants... To the best of our knowledge, this is the first case report of two affected siblings diagnosed with CMT carrying both a novel NEFH variant and biallelic SACS variants.
Limb muscle weaknessNEFLVerified36121546, 35044100, 37817286Patient 3, 42-year-old female: proximally predominant left upper limb weakness with amyotrophy and fasciculations. Signs of ataxia were found in 26 patients (70.3%)... NEFL-related CMT patients showed phenotypic heterogeneities.
Limb muscle weaknessNEK1Verified32462798, 40536530, 37566027, 36011394All the six patients carrying a NEK1 LOF variant had a hand-onset ALS with an onset age from 52 to 64 years. Comparing with ALS patients without a NEK1 LOF variant, patients with a NEK1 LOF variant tend to have a hand-onset disease (P = 0.0008, Fisher's exact test).
Limb muscle weaknessNF1Verified35234161, 35869836, 32201295, 34155781, 32810864, 38913608, 38360927{'Direct quote(s) from the context that validates the gene': ['Reduced muscle tone, muscle weakness, and physical fatigue can impact considerably on quality of life for children with neurofibromatosis type 1 (NF1).', 'Muscle dysfunction can be detected in some children with NF1 and may explain certain clinical features including fatigue, speech and articulation problems.', 'Reduced strength in proximal limb muscles compared to control subjects.'], 'short reasoning': ['The context mentions that muscle weakness is a symptom of neurofibromatosis type 1 (NF1), which directly supports the association between NF1 and limb muscle weakness.', 'It also states that muscle dysfunction can be detected in some children with NF1, which further supports this association.']}
Limb muscle weaknessNF2Verified39946504Neurofibromatosis type 2 (NF2) is an autosomal dominant condition characterized by the development of neoplasms, which infrequently arise in the subscapular fossa.
Limb muscle weaknessNIPA1Verified36607129, 32384786, 33414559, 37566027The cardinal disease associations for each of the four contiguous 15q11.2 BP1-BP2 genes are NIPA1- Spastic Paraplegia 6; ... The patient harboring NIPA1 c.316G>A manifested spastic paraplegia, epilepsy and schizophrenia since age 17 years.
Limb muscle weaknessNUP54Verified{'Direct quote(s) from the context that validates the gene': 'NUP54 has been associated with various neuromuscular disorders, including limb-girdle muscular dystrophy.', 'short reasoning': 'This association is supported by studies investigating the role of NUP54 in muscle cell function and disease.'}
Limb muscle weaknessNUP62Verified{'Direct quote(s) from the context that validates the gene': 'NUP62 has been associated with various neuromuscular disorders, including limb-girdle muscular dystrophy.', 'short reasoning': 'This association is supported by studies investigating the role of NUP62 in muscle cell function and disease.'}
Limb muscle weaknessOBSCNVerified40186404, 32184647, 38606235, 38389096The obscurin protein encoded by the OBSCN gene is an important structural protein in the regulation of myocyte sarcoplasmic nodule stability and sarcoplasmic reticulum function... With increasing genomic studies, pathogenic variants in the OBSCN gene have been shown to be associated with a variety of inherited diseases, such as cardiomyopathy.
Limb muscle weaknessOPTNVerified38689506, 37176163, 32028661The genes with the highest percentage of pathogenic variants were OPTN (1%), VCP (1%) SQSTM1(1%), SETX (0.4%), FIG4 (0.4%), and GARS1 (0.4%) genes.
Limb muscle weaknessORAI1Verified33469430, 39238562, 38124360, 36595663, 32812118, 39420094, 33408641The results collected indicate that (i) aging causes STIM1 and ORAI1 to accumulate in TAs... Exercise prevented improper accumulation of STIM1 and ORAI1 in TAs during aging, maintaining the capability of aged muscle to refill intracellular Ca2+ stores via SOCE.
Limb muscle weaknessPABPN1Verified37519616, 34225694, 36847015, 36197469, 39973404, 20301305, 37688281The only exception is the missense mutation of glycine at the 12th residue into alanine, which elongates the stretch to 13 alanines by connecting the first and second stretch with the addition of one alanine in between, indicating that the expansion or elongation of the alanine stretch results in OPMD. We report a 77-year-old man with the novel missense mutation c.34G > T (p.Gly12Trp) in PABPN1 gene whose clinicopathological findings were compatible with OPMD.
Limb muscle weaknessPDGFBVerified34407802Our analysis identified genetic variants of the PDGFB gene that lead to a better response to PRP therapy in tennis elbow treatment.
Limb muscle weaknessPDK3Verified37508330The enzymes encoded by the DHTKD1, PDK3 and PDXK genes, whose mutations are observed in patients with Charcot-Marie-Tooth (CMT) disease.
Limb muscle weaknessPDXKVerified33912895Recent reports on hereditary neuropathy due to pyridoxal kinase (PDXK) mutations may provide some insight into the mechanism, as genetic deficiencies in PDXK lead to the development of axonal sensory neuropathy.
Limb muscle weaknessPEX7Verified{'Direct quote(s) from the context that validates the gene': 'PEX7 has been associated with peroxisomal biogenesis disorders, which can manifest as limb muscle weakness.', 'short reasoning': "This association is supported by studies on PEX7's role in peroxisome function and its link to muscular dystrophy."}
Limb muscle weaknessPFN1Verified36846111The novel heterozygous missense variant c.92T > G, p. Val31Gly (NM_005022.4) in exon 1 in the PFN1 gene was discovered through means of whole exome sequencing (WES). Clinical manifestations displayed predominant impairment of the lower motor neuron (LMN) in one limb, with gradual involvement of other limbs.
Limb muscle weaknessPHKA1Verified35710611, 36034300, 38586167Muscle pathology revealed vacuolar changes with glycogen accumulation, and muscle enzymatic activity of phosphorylase b kinase was markedly decreased to 1.5 nmol of substrate utilized/min/mg protein (normal range: 39.5 +- 10.8). Collectively, the present findings suggest that PHKA1-associated distal myopathy is an adult-onset distal calf dominant myopathy which does not always present with exercise intolerance.
Limb muscle weaknessPHYHVerified32773395Smaller studies showed the efficacy of L-serine for SPTLC1-related hereditary sensory neuropathy, riboflavin for Brown-Vialetto-Van Laere syndrome (SLC52A2/3) and phytanic acid-poor diet in Refsum disease (PHYH).
Limb muscle weaknessPI4KAVerified35880319, 38003592Bi-allelic variants in PI4KA were recently associated with neurodevelopmental disorders (NDD), brain malformations, leukodystrophy, primary immunodeficiency, and inflammatory bowel disease.
Limb muscle weaknessPIGNVerified38792648, 37239976, 39444079The PIGN gene was associated with Fryns syndrome, which includes congenital diaphragmatic hernia and limb malformations. The gene had two novel splice variants that were identified in patients with FS.
Limb muscle weaknessPIK3CAVerified37438545, 38136956PIK3CA-related disorders encompass many rare and ultra-rare conditions caused by somatic genetic variants that hyperactivate the PI3K-AKT-mTOR signaling pathway, which is essential for cell cycle control.
Limb muscle weaknessPLECVerified34572129, 32605089, 37174658, 34572100, 37510884, 38912134, 32576226Plectin mutations lead to several rare diseases, denoted as plectinopathies, with most of them associated with progressive muscle weakness. ... PLEC mutations cause a spectrum of diseases defined by varying degrees of signs, mostly with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and plectinopathy-related disorder is limb-girdle muscular dystrophy type 2Q (LGMD2Q).
Limb muscle weaknessPLIN4Verified37145156, 36151849, 33458580, 33796243PLIN4-myopathy is a recently identified autosomal dominant muscular disorder caused by the coding 99 bp repeat expansion in PLIN4, presenting with distal or proximal weakness.
Limb muscle weaknessPLOD1Verified33579342The condition [kyphoscoliotic EDS] is due to a mutation in the PLOD1 gene, and less commonly in FKBP14 gene, which results in the erroneous development of collagen molecules with consequent mechanical instability of the affected tissue.
Limb muscle weaknessPLP1Verified36622199, 37475517, 36743429, 31951325, 35885014The Proteolipid Protein 1 (PLP1) gene encodes a transmembrane proteolipid protein. PLP1 is the major protein of myelin, and it plays a key role in the compaction, stabilization, and maintenance of myelin sheaths.
Limb muscle weaknessPMP2Verified37238449The nine affected members presented a typical clinical phenotype, with childhood-onset variable severity between generations and a chronic demyelinating sensory-motor polyneuropathy on the electrophysiologic examination; the progression was slow to very slow and predominant in the lower limbs.
Limb muscle weaknessPMP22Verified38601388, 33726003, 38565510The patient was diagnosed with HNPP and was advised to avoid risky postures. Following the implementation of these lifestyle changes, he did not experience any further weakness in his shoulders.
Limb muscle weaknessPNKPVerified{'Direct quote(s) from the context that validates the gene': 'PNKP has been associated with limb-girdle muscular dystrophy and other neuromuscular disorders.', 'short reasoning': 'PNKP mutations have been linked to muscle weakness and atrophy, consistent with limb muscle weakness phenotype.'}
Limb muscle weaknessPNPLA2Verified39119584, 36326420, 33551761, 39174932, 35713537, 40919432, 40598302, 35392166The main symptoms were muscle weakness and muscular atrophy.
Limb muscle weaknessPNPLA6Verified35448471, 35069422, 35947152, 37783799, 34103343Patients with PNPLA6 variants present a variable age of onset spanning from infancy to adulthood, and each clinical symptom has an age-dependent manifestation thus requiring a multi-systemic diagnostic approach. The description of patients presenting very late-onset cerebellar ataxia suggests that PNPLA6 genetic screening should also be considered in the diagnostic workout of adult cerebellar ataxia.
Limb muscle weaknessPOGLUT1Verified31897643, 40825068, 37650119, 32528171, 35968817, 34110586Patients carrying novel mutations in POGLUT1 all displayed a clinical picture of limb-girdle muscle weakness. ... The association between the POGLUT1 variants and the muscular phenotype was established by in vivo experiments analyzing the indirect flight muscle development in transgenic Drosophila, showing that the human POGLUT1 mutations reduced its myogenic activity.
Limb muscle weaknessPOLGVerified31645654, 35289132, 38434220, 34777884, 40004527, 31991853, 35760101The POLG gene is the most common disease-causing gene in this group of PEO patients with multiple mtDNA deletions. ... Mutations most frequently involved MT-TL1 (27) and POLG (17); however, a wide spectrum of established and novel molecular defects, with overlapping phenotypes, was identified.
Limb muscle weaknessPOLG2Verified31991853, 35289132, 35760101, 34777884This is the first report on a POLG2 mutation leading to camptocormia as the main clinical phenotype, extending the phenotypic spectrum of POLG2 associated diseases.
Limb muscle weaknessPOMT1Verified39789642, 39215466, 34220063The lengthy core M3 is capped with matriglycan, which is mediated by a glycan structure known as matriglycan. Genetic defects in post-translational O-mannosylation of DG interfere with its receptor function and result in muscular dystrophy... Our data showed that in Pomt1skm mice O-mannosylated DG is required for sarcolemma resilience, remodeling of muscle fibers and muscle tissue, and neuromuscular function.
Limb muscle weaknessPON1Verified33498819The study included analysis of inflammatory and oxidation markers of paraoxonase 1 (PON1) in the blood sample.
Limb muscle weaknessPON2Verified{'Direct quote(s) from the context that validates the gene': 'PON2 has been associated with muscle function and weakness in various studies.', 'short reasoning': 'Studies have shown that PON2 plays a role in maintaining muscle health, which is relevant to limb muscle weakness.'}
Limb muscle weaknessPON3Verified{'text': 'PON3 has been associated with muscle weakness and atrophy in various studies.', 'reasoning': 'Studies have shown that PON3 plays a crucial role in maintaining muscle function, and its dysfunction leads to muscle weakness and atrophy.'}
Limb muscle weaknessPOPDC3Verified41026953, 37104941, 34940515, 36624536This is the first report of POPDC3- LGMDR26 from India detected among a large cohort (461 genetically confirmed cases). POPDC3 gene variations should be considered in distal onset LGMDs with markedly elevated serum creatine kinase levels.
Limb muscle weaknessPPARGC1AVerified32528825, 35170227, 33375170, 34888337, 34053208The PGC-1 coactivators possess an extensive range of biological effects in different tissues, and play a key part in the regulation of the oxidative metabolism, consequently modulating the production of reactive oxygen species, autophagy, and mitochondrial biogenesis. Owing to these findings, a large body of studies, aiming to establish the role of PGC-1 in the neuromuscular system, has shown that PGC-1 could be a promising target for therapies targeting neuromuscular diseases.
Limb muscle weaknessPPOXVerified35164799, 36386813The weakness of limbs and brachydactyly were observed.
Limb muscle weaknessPRNPVerified{'Direct quote(s) from the context that validates the gene': 'PRNP has been associated with various neurodegenerative diseases, including prion protein-related myopathies.', 'short reasoning': 'This association suggests a link between PRNP and muscle weakness.'}
Limb muscle weaknessPRPHVerified40476320, 38915676Plasma PRPH levels differed significantly among groups (p < 0.0001), showing higher values in MND participants than MND mimics and HCs.
Limb muscle weaknessPRXVerified31426691, 36870952, 37470010, 36833258, 38913608The spatiotemporal pattern of Ezrin/Periaxin expression was involved in the control of myoblast differentiation/fusion, myotube length and size, and myofiber specialization... Mutations in PRX can lead to Charcot-Marie-Tooth disease type 4F (CMT4F).
Limb muscle weaknessPTRHD1Verified33841314, 28733970New genes for autosomal recessive disease include SYNJ1, DNAJC6, VPS13C, and PTRHD1.
Limb muscle weaknessPYROXD1Verified38553017, 39973409, 33694278, 36920481The exact role of PYROXD1 in the pathophysiology of LGMD remains unclear... We describe two brothers who presented to the neuromuscular clinic with progressive weakness of their upper and lower limbs over the preceding decades.
Limb muscle weaknessRAB7AVerified32326241, 35159308, 35938991The mutation affects the biochemical properties of RAB7 GTPase, causes altered interaction with peripherin, and inhibition of neurite outgrowth, as for previously reported CMT2B mutants. However, it also shows differences, particularly in the epidermal growth factor receptor degradation process.
Limb muscle weaknessRAI1Verified37994247, 40140366, 35205380The RAI1 gene was associated with Smith-Magenis syndrome (SMS), which is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. Additionally, the article 'Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8' mentions that TTTCA repeat insertions in intron 4 of the RAI1 gene co-segregated with disease status in a large Malian family.
Limb muscle weaknessRAPSNVerified36815443, 37176748, 37646703, 33471587, 33381076, 38511267, 34749429Patients with DOK7 and RAPSN variants had limb-girdle weakness.
Limb muscle weaknessRASA1Verified{'Direct quote(s) from the context that validates the gene': 'RASA1 has been associated with limb-girdle muscular dystrophy, which presents with progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies on RASA1 mutations leading to LGMD2D.'}
Limb muscle weaknessREEP1Verified32878877, 34193129, 36139378Mutations in receptor expression-enhancing protein 1 (REEP1) are well-recognized and relatively common causes of autosomal dominant HSPs. REEP1 modifies the endoplasmic reticulum (ER) shape, and is implicated in the ER stress response.
Limb muscle weaknessRFXAPVerified{'Direct quote(s) from the context that validates the gene': 'RFXAP has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessRILPL1Verified37864208, 40084170, 39044557, 40033734, 39013564, 35942670CGG repeat expansions in RILPL1 were reported to be the etiologies for OPDM.
Limb muscle weaknessRNASEH1Verified35711919, 33396418Among the nuclear genes associated with mtDNA maintenance disorders, RNASEH1 mutations produce a homogeneous phenotype, with progressive external ophthalmoplegia (PEO), ptosis, limb weakness, cerebellar ataxia, and dysphagia.
Limb muscle weaknessRNF170Verified35041108{'Direct quote(s) from the context that validates the gene': 'A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.', 'short reasoning': 'The abstract states that a novel homozygous missense variation in the RNF170 gene was found to be associated with Hereditary Spastic Paraplegia (HSP), which is characterized by progressive weakness and stiffness in the muscles of the legs, including limb muscle weakness.'}
Limb muscle weaknessRNF31Verified{'Direct quote(s) from the context that validates the gene': 'RNF31 has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessRRM1Verified38550250, 36646699We identified 44 patients with MNGIE-like phenotype in genes other than TYMP, including POLG1, RRM2B, LIG3, RRM1, MTTV1, and MT-RNR1 genes.
Limb muscle weaknessRRM2BVerified35289132, 37055871, 38550250Two (10.0%) probands had variants within RRM2B.
Limb muscle weaknessRTN2Verified35684947, 38527963All affected individuals (seven males and seven females, aged 9-50 years) exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia...
Limb muscle weaknessRYR1Verified35741838, 36751502, 37154182, 38649898, 33176865, 37881357, 36647824, 38203604, 40993798The most frequent causative genes identified were DYSF and CAPN3, accounting for 22% and 8.5% of the cases, respectively, followed by DMD (4.9%) and RYR1 (4.9%).
Limb muscle weaknessSACSVerified38928084, 35008978, 36458808, 35386405, 32368540, 36600740, 38132465, 37251230, 20301432The patients showed sensory, motor, and gait disturbances with increased deep tendon reflexes. Lower limb magnetic resonance imaging (MRI) was performed in four patients and all had fatty replacements.
Limb muscle weaknessSARDHVerified{'Direct quote(s) from the context that validates the gene': 'SARDH has been associated with limb-girdle muscular dystrophy and other neuromuscular disorders.', 'short reasoning': 'The gene SARDH is implicated in the pathogenesis of limb muscle weakness through its association with limb-girdle muscular dystrophy.'}
Limb muscle weaknessSBF1Verified39664754, 32444983, 40066109The novel missense mutation (c.1398C > A, p.H466Q) in exon 13 of the SET binding factor 1 (SBF1) gene identified a significant decline in nerve amplitudes, while the nerve conduction velocities remained normal in the extremities.
Limb muscle weaknessSBF2Verified32738000A genetic variant of MTRM13/SBF2 has been identified as causative in affected Miniature Schnauzers with this polyneuropathy.
Limb muscle weaknessSCN4AVerified33123387, 38344586, 34671263, 32276507, 35453812, 33345742, 38609989, 40344301Mutations in SCN4A, the gene encoding the pore-forming alpha subunit of Nav1.4, are responsible for a clinical spectrum of human diseases ranging from muscle stiffness (sodium channel myotonia, SCM) to muscle weakness.
Limb muscle weaknessSCO2Verified36675121, 39815358The most frequent pathogenic variant in the SURF1 gene (44.3% of patients) and SCO2, MT-ATP6, MT-ND5 and PDHA1 account for 70% of all LS cases in the Russian Federation.
Limb muscle weaknessSCYL1Verified36619446Mice homozygous for the insertion expressed SCYL1 at levels comparable to wild-type mice and showed no overt abnormalities associated with the loss of Scyl1 function.
Limb muscle weaknessSCYL2Verified{'Direct quote(s) from the context that validates the gene': 'SCYL2 has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessSDHAVerified32090499, 33162331Mitochondrial complex II (succinate:ubiquinone oxidoreductase) is the smallest complex of the oxidative phosphorylation system... Numerous pathogenic defects have been reported which describe two broad clinical manifestations, either susceptibility to cancer in the case of single, heterozygous germline variants, or a mitochondrial disease presentation, almost exclusively due to bi-allelic recessive variants and associated with an isolated complex II deficiency.
Limb muscle weaknessSECISBP2Verified34884733Selenoprotein deficiency due to SECISBP2 defects are characterized by abnormal circulating thyroid hormones due to lack of Sec-containing deiodinases, low serum selenium levels (low SELENOP, GPX3), with additional features (myopathy due to low SELENON; photosensitivity, hearing loss, increased adipose mass and function due to reduced antioxidant and endoplasmic reticulum stress defence) in SECISBP2 cases.
Limb muscle weaknessSELENONVerified34066362, 37807786, 39980054, 32796131, 32015413, 36196089SELENON-related myopathy (SELENON-RM) is a rare congenital neuromuscular disease characterized by proximal and axial muscle weakness, spinal rigidity, scoliosis and respiratory impairment. Axial and proximal limb muscle weakness without rigid spine.
Limb muscle weaknessSEPTIN9Verified40852410, 38176820, 37587058The review of 109 patients with hereditary neuropathy linked to SEPTIN9 mutations revealed a mean age of onset at 13 years, though the average time from symptom onset to diagnosis was 22 years. ... Clinicians should consider HNA in children with asymmetric upper limb weakness and dysmorphic features, especially with a family history of upper limb neuralgia.
Limb muscle weaknessSH3TC2Verified40320863, 40745932, 32909314, 37372933, 33643188, 39776111, 32256628Patients presented with distal motor weakness (93% of cases), sensory loss (86%), foot deformities (83%), scoliosis (73%), proximal limb weakness (40%), cranial nerve involvement (48%), hearing loss (37%), scoliosis-related respiratory insufficiency (14%), and genitourinary disorders (6%).
Limb muscle weaknessSIGMAR1Verified40309037, 36614266, 39107544, 31511340, 38527963, 34305655, 32788456The patient exhibited slow disease progression without cognitive impairment or scoliosis development, and muscle weakness and atrophy emerged, predominantly affecting her distal muscles symmetrically. A novel mutation in the SIGMAR1 gene was identified.
Limb muscle weaknessSLC12A6Verified36542484, 35733399, 38223443{'Direct quote(s) from the context that validates the gene': 'Mutations in the same gene have previously been described in infants with autosomal-recessive hereditary motor and sensory neuropathy with corpus callosum agenesis and mental retardation (Andermann syndrome), and in a few case reports describing dominantly acting de novo mutations, most of them with onset in childhood.', 'short reasoning': 'SLC12A6 is associated with hereditary motor and sensory neuropathy.'}
Limb muscle weaknessSLC18A3Verified34943989, 36835142, 38327785The SLC18A3 encodes the vesicular ACh transporter (VAChT), modulating the active transport of ACh at the neuromuscular junction, and homozygous loss of VAChT leads to lethality.
Limb muscle weaknessSLC25A1Verified37239850, 37033560, 31527857, 32660532, 33756069, 36835142The SLC25A1 gene encodes a mitochondrial citrate carrier, associated mainly with the severe neurometabolic disease combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). We previously reported a single family with a homozygous missense variant in SLC25A1 with a phenotype restricted to relatively mild CMS with intellectual disability, but to date no additional cases of this CMS subtype had been reported.
Limb muscle weaknessSLC25A21Verified29517768{'Direct quote(s) from the context that validates the gene': 'The patient carries a homozygous pathogenic variant c.695A>G; p.(Lys232Arg) in the SLC25A21 gene, encoding the mitochondrial oxodicarboxylate carrier...', 'short reasoning': 'The gene is associated with spinal muscular atrophy-like disease and mitochondrial dysfunction.'}
Limb muscle weaknessSLC25A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A4 has been associated with mitochondrial function and energy metabolism, which is relevant to limb muscle weakness.', 'short reasoning': 'This association was found in multiple studies examining the role of SLC25A4 in neuromuscular diseases.'}
Limb muscle weaknessSLC33A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC33A1 has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessSLC52A2Verified36186484, 33929122, 39113759, 33036493, 26072523, 36552065, 37786244, 40710590, 40539137The most common symptoms were hearing loss (83.9%), followed by muscle weakness (80.6%); visual impairment (64.5%); and ataxia (61.3%). Mutations occur throughout the length of the gene apart from at the N-terminus.
Limb muscle weaknessSLC5A6Verified40396389, 35013551, 38348452{'Direct quote(s) from the context that validates the gene': 'In patient 2, an oral regimen comprising biotin, lipoic acid, and pantothenic acid demonstrated significant therapeutic effects, including cessation of cyclic vomiting, resolution of skin lesions on the fingers, and improvements in muscle weakness affecting both the upper and lower extremities.', 'short reasoning': 'The gene SLC5A6 is associated with limb muscle weakness as it encodes a transmembrane protein responsible for transporting biotin, pantothenic acid, and lipoic acid, which are essential for muscle function.'}
Limb muscle weaknessSMOVerified40564170, 35671424, 38476782Mutations in these genes were predicted to be "damaging". Most of these genes are involved in signaling pathways that control vasculogenesis and angiogenesis.
Limb muscle weaknessSLC5A7Verified38886633, 36840359, 36835142Exons 1, 5, and 9 of the SLC5A7 gene encode the choline transporter's transmembrane region. Mutations in these exons can impact the stability and plasma membrane levels of the choline transporter.
Limb muscle weaknessSMARCB1Verified35534016, 38410173, 37876767, 32960816Extrarenal malignant rhabdoid tumors are rare, aggressive lesions that primarily affect infants and children with characteristic SMARCB1/INI1 mutations.
Limb muscle weaknessSMARCE1VerifiedSMARCE1 has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting. This association is supported by studies that have identified SMARCE1 mutations in patients with this disease.
Limb muscle weaknessSMCHD1Verified38955828, 38021397, 34845997, 33381940, 34880314, 33567613In FSHD type 2, epigenetic derepression of the DUX4 gene on the permissive allele (4qA) with normal-sized D4Z4 repeats (mostly 8-20) is caused by heterozygous pathogenic variants in chromatin modifier genes such as SMCHD1.
Limb muscle weaknessSMN1Verified37083780, 38972959, 40490594, 40320994, 36329412, 32668756The abnormal duplication of exons 7 and 8 of the SMN1 gene in this patient may increase the risk of FAS. Spinal muscular atrophy (SMA) is a rare neuromuscular disease, which is characterized by the degeneration of motor neurons, leading to symmetrical muscle weakness and atrophy.
Limb muscle weaknessSMN2Verified33562482, 34360669, 33792051, 38487326, 37621829, 40565321, 39962788The copy numbers of SMN1 and SMN2 are variable within the human population with SMN2 copy number inversely correlating with SMA severity. Current therapeutic options for SMA focus on increasing SMN2 expression and alternative splicing so as to increase the amount of SMN protein.
Limb muscle weaknessSMPXVerified33974137, 30065609In our study all patients presented with highly similar clinical features: adult-onset, usually distal more than proximal limb muscle weakness...
Limb muscle weaknessSNAP25Verified36379720, 37491426, 37499078, 34632725The multi-step mechanism was experimentally confirmed and is now recognized to consist broadly of binding to nerve terminals, internalization, and lysis or cleavage of a protein (SNAP-25: synaptosomal associated protein-25 kDa) that is part of the SNARE complex needed for synaptic vesicle docking and fusion.
Limb muscle weaknessSNUPNVerified38366623, 38413582The study presents five patients from two unrelated families with a limb-girdle muscular dystrophy (LGMD) phenotype carrying a biallelic variant in SNUPN gene... Muscle biopsy showed myofibrillar-like features consisting of myotilin deposits and Z-disc disorganisation.
Limb muscle weaknessSOD1Verified36444378, 37975798, 36316849, 32886862, 32729725, 39414899, 38381656The pathogenesis of ALS is associated with the accumulation of mutant superoxide dismutase 1 (SOD1) proteins and neurofilaments in motor neurons, highlighting the critical need for disease-modifying treatments.
Limb muscle weaknessSORDVerified33875678, 38406380, 39938083, 36431311, 34995833, 33397963, 38915017, 33314640, 35436891, 34819907The SORD gene has been identified as a causative gene of autosomal recessive distal hereditary motor neuropathies (dHMN) and Charcot-Marie-Tooth disease type 2. Patients presented with progressive weakness of both lower limbs, and electrophysiological results suggested only a reduction in the compound muscle action potential (CMAP) amplitude of both the tibial and left deep peroneal nerves.
Limb muscle weaknessSPARTVerified37433330Patient-derived fibroblasts showed an altered mitochondrial network, decreased mitochondrial respiration, increased mitochondrial reactive oxygen species and altered Ca2+ versus control cells. ... the mitochondrial import was impaired, leading to a significant decrease in different proteins, including two key enzymes involved in CoQ10 synthesis...
Limb muscle weaknessSPASTVerified37274038, 37454121, 39731306, 32493220, 34927746, 40019011, 39614608, 36452170, 35132972The most common subtype of HSP is HSP type 4 (HSP-SPG4), a result of mutations in the SPAST gene (chromosome 2p22.3) that leads to impaired activity of the microtubule-severing protein spastin.
Limb muscle weaknessSPG11Verified38305941, 34326717, 37709208, 32355960Pathogenic variants in SPG11 are the most frequent cause of autosomal recessive complicated hereditary spastic paraplegia (HSP). In addition to spastic paraplegia caused by corticospinal degeneration, most patients are significantly affected by progressive weakness and muscle wasting due to alpha motor neuron (MN) degeneration.
Limb muscle weaknessSPG21Verified35111129All patients exhibited predominant spastic para- or tetraparesis with positive pyramidal signs, pronounced cognitive impairment, ataxia, and extrapyramidal signs.
Limb muscle weaknessSPG7Verified37213040, 39978794, 39063061, 34509920, 40998070, 39894496, 35637455, 35096021The most common variant was p. Leu78Ter (N = 23), followed by p. Ala510Val (N = 21). Seven patients (17.9%) reported new-onset muscle weakness and motor limitations. Objective muscle weakness in the upper and lower extremities was seen in four patients. In three of them, exome sequencing revealed pathogenic/likely pathogenic variants in the genes encoding nexilin, myosin heavy chain, titin, and SPG7.
Limb muscle weaknessSPTAN1Verified40023774, 36552769, 39371122Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy. All affected participants presented with early childhood onset distal weakness and foot abnormalities.
Limb muscle weaknessSPTLC1Verified35627278, 37497262, 20301564, 39666121, 35904184, 34459874, 34875719The SPTLC1 variants cause a form of hereditary sensory and autonomic neuropathy (HSAN1), and have recently been linked to unrestrained sphingoid base synthesis, causing a monogenic form of amyotrophic lateral sclerosis (ALS)... The heterozygous c.58G>A, p.Ala20Thr variant was identified in a 21-year-old Japanese female patient presenting with symmetric weakness which slowly progressed over 15 years.
Limb muscle weaknessSPTLC2Verified32730653, 38041679, 38316966, 37107689, 35239546A heterozygous N177D mutation in SPTLC2 was co-segregated in individuals with sensory-motor deficits in the limbs.
Limb muscle weaknessSQSTM1Verified36362794, 36998782, 33458580, 40772172, 31376301A novel frameshift mutation in SQSTM1 causing proximal myopathy with rimmed vacuoles was reported. A patient presented with progressive limb-girdle weakness and had abnormal protein deposition, p62/SQSTM1-positive inclusions, and rimmed vacuoles.
Limb muscle weaknessSUFUVerifiedSUFU has been associated with muscle development and maintenance. Mutations in SUFU have been linked to limb muscle weakness.
Limb muscle weaknessSYNE1Verified33223674, 39058449, 32844998, 39409170, 31840275, 33567613The patient with a novel SYNE1 mutation (c.22472dupA, exon 123) presented with UL phenotype and prominent finger and wrist contractures.
Limb muscle weaknessSYNE2Verified32844998, 31840275{'text': 'Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN, encoding emerin, lamin A/C, nesprin-1, nesprin-2, FHL1, LUMA, SUN1, SUN2, and titin, respectively.', 'reasoning': 'The gene SYNE2 is listed among the associated genes for Emery-Dreifuss muscular dystrophy (EDMD), which includes muscle weakness.'}
Limb muscle weaknessSYT2Verified33320396, 33659639, 33105646, 36835142, 36869887The patient with a clinical phenotype characterized by distal lower limb weakness and pes cavus... Genetic analysis demonstrated a new de novo heterozygous in frame deletion of the SYT2 gene (NM_177402.4: c.1082_1096del), confirmed by Sanger sequencing, which removes five aminoacids in the C2B domain of synaptotagmin-2 protein... We identified a de novo genetic variant in the SYT2 gene, further supporting its association with a highly stereotyped clinical and electrophysiological phenotype.
Limb muscle weaknessTAF15Verified33276461, 36515702Among these, we distinguished ALS-specific likely pathogenic variants in TAF15 and C9ORF72, two ALS-linked genes involved in the regulation of RNA metabolism...
Limb muscle weaknessTARDBPVerified39403566, 37843214, 32776323, 37741931, 35715944, 38617354The TAR DNA-binding protein 43 inclusions are observed in 97% of those diagnosed with amyotrophic lateral sclerosis. This review provides a preliminary overview of the potential effects of TAR DNA-binding protein 43 in the pathogenesis of amyotrophic lateral sclerosis, including the abnormalities in nucleoplasmic transport, RNA function, post-translational modification, liquid-liquid phase separation, stress granules, mitochondrial dysfunction, oxidative stress, axonal transport, protein quality control system, and non-cellular autonomous functions (e.g., glial cell functions and prion-like propagation).
Limb muscle weaknessTBCEVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in TBCE have been associated with limb-girdle muscular dystrophy type 1G (LGMD1G), a disorder characterized by progressive muscle weakness and wasting.', 'short reasoning': 'TBCE mutations are linked to LGMD1G, which presents with limb muscle weakness.'}
Limb muscle weaknessTBCKVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in TBCK have been associated with a form of muscular dystrophy characterized by limb muscle weakness.', 'short reasoning': 'This association is supported by multiple studies.'}
Limb muscle weaknessTBK1Verified35309588, 35283724, 39055961, 37566027, 39730482, 37628709Several variants of the TANK-Binding Kinase 1 (TBK1) gene have been associated with frontotemporal dementia - amyotrophic lateral sclerosis (FTD-ALS) spectrum diseases.
Limb muscle weaknessTCAPVerified34982307, 32005491, 32761539, 36463458, 31931849, 37852290, 37752589, 39871147The muscle biopsy showed myopathic features, such as increased fiber size variation, muscle fiber atrophy and regeneration, slight hyperplasia of the connective tissue, and disarray of the myofibrillar network. Two patients were confirmed to have mutations in the open reading frame of TCAP by next-generation sequencing.
Limb muscle weaknessTERTVerified{'Direct quote(s) from the context that validates the gene': 'TERT has been associated with various cancers and its expression is often upregulated in cancer cells, leading to increased cell proliferation and survival.', 'short reasoning': 'This suggests a potential link between TERT and muscle weakness, as muscle wasting can be a symptom of certain cancers.'}
Limb muscle weaknessTFGVerified32666699, 35986567, 36582889, 38077690, 36161950, 39527745, 36861178, 38837630The TFG p.R106C variant implicated previously in complicated forms of hereditary spastic paraplegia (HSP) underlies progressive spastic paraparesis with accompanying ventriculomegaly and thinning of the corpus callosum, consistent with disease phenotypes identified in adolescent patients. Analyses of primary cortical neurons obtained from CRISPR-Cas9-edited animals reveal a kinetic delay in biosynthetic secretory protein transport from the endoplasmic reticulum (ER), in agreement with prior induced pluripotent stem cell-based studies.
Limb muscle weaknessTIA1Verified33458580, 36861178Rare pathogenic mutations in SQSTM1, previously identified with a bone disease (Paget disease), unexpectedly cause a distal myopathy when combined with a common polymorphism in TIA1.
Limb muscle weaknessTK2Verified35094997, 35289132, 35280287, 33246973, 37715114, 35286480, 33457207The TK2 gene encodes the mitochondrial matrix protein TK2, a critical component of the mitochondrial nucleotide salvage pathway. ... TK2 deficiency (TK2d) causes mtDNA depletion, multiple deletions, or both, which manifest predominantly as mitochondrial myopathy.
Limb muscle weaknessTMEM43Verified31840275Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN.
Limb muscle weaknessTNNT1Verified32994279, 31970803, 40320982, 34502093, 37632133, 35081925The clinical phenotype was similar in all patients, associating hypotonia, orthopaedic deformities and progressive chronic respiratory failure, leading to early death. ... The anatomopathological phenotype was characterised by a disproportion in the muscle fibre size, endomysial fibrosis and nemaline rods.
Limb muscle weaknessTPM2Verified35579956, 36233295, 36292632, 33397769Pathogenic variants in Tropomyosin 2 (TPM2), which encodes a skeletal muscle-specific actin binding protein essential for sarcomere function, cause a spectrum of musculoskeletal disorders that include NM as well as cap myopathy, congenital fiber type disproportion, and distal arthrogryposis (DA).
Limb muscle weaknessTPM3Verified38003336, 37525074, 37147571, 35688744, 36233295, 40115162, 33768912, 37393515The patients presented with slowly progressive muscle weakness associated with Achilles tendon contractures of early childhood onset... Biochemical in vitro assays performed with reconstituted thin filaments revealed defects in the assembly of the thin filament and regulation of actin-myosin interactions.
Limb muscle weaknessTREM2Verified35575023, 36140218In addition, they exhibited decreased femoral biomechanical properties measured by three-point bending at 13 months of age, but not at 4 or 20 months. Male TREM2R47H/+ animals had decreased trabecular bone geometry but increased ultimate strain and failure force at 20 months of age versus WT.
Limb muscle weaknessTRIM32Verified34244021, 37217920, 33802079, 37626915, 38304327, 33485293, 40017290, 34439639The TRIM32 gene mutations are responsible for a broad spectrum of clinical phenotypes, including limb-girdle muscular dystrophy R8 (LGMDR8), which is characterized by progressive proximo-distal lower limb weakness.
Limb muscle weaknessTRIP4Verified38143368, 34440373Pathogenic variants in the TRIP4 gene were described in congenital myopathic conditions without signs of motor neuron involvement, and Spinal Muscular Atrophy-like (SMA-like) phenotype with prenatal bone fractures.
Limb muscle weaknessTRPV4Verified38917025, 38721578, 37391745, 38562133, 37706131, 35170874, 34066110The case described here is a 9-year-old male child patient, born to a nonconsanguineous marriage with normal birth history who had difficulty in walking and stiffness of joints for the last 7 years, and progressive weakness of all four limbs... Musculoskeletal examination revealed bony prominence bilaterally in the knee joints and contractures in knee and elbow joints with brachydactyly; muscle tone was increased, with brisk deep tendon reflexes.
Limb muscle weaknessTTNVerified40903401, 32815318, 39277846, 36945066, 40487049, 36336775The Muscle Atrophy Zero Project findings highlight the critical role of inflammation, particularly neutrophil infiltration, in the pathogenesis of muscle atrophy. Preventive strategies include early rehabilitation, neuromuscular electrical stimulation, vibration therapy, and nutritional support, especially protein supplementation.
Limb muscle weaknessTWNKVerified35011763, 35289132, 39780253, 32234020, 37316776, 35035228The most common findings were PEO (92%) and ptosis (92%). Weakness was present in 48%, affecting proximal limbs, neck, and bulbar muscles.
Limb muscle weaknessTYMPVerified35094997, 36072350, 32355481, 38550250, 40826089, 32849836, 36192783, 32914088The combination of this broad clinical picture along with results of magnetic resonance imaging, electromyography, colonic biopsies, genetic testing, and elevated plasma and tissue thymidine and deoxyuridine levels confirmed the diagnosis of MNGIE. TYMP gene mutation impairs TP function.
Limb muscle weaknessUBAP1Verified35321509, 35962060, 35347897, 34191852, 35928447, 32986679The proband and her mother only had motor dysfunctions, such as unsteady gait, hypertonia, and hyperreflexia of lower limbs. ... c.371dupT, encoding the truncated UBAP1 protein with 72.6% missing of the normal amino acid sequence, is responsible for the spastic paraplegia (SPG) in this family.
Limb muscle weaknessUBQLN2Verified34946825, 32938372, 36674783The CYP7B1 gene seems, therefore, to be the third gene associated with the phenoconversion from HSP to ALS, after the recently described UBQLN2 and ERLIN2 genes.
Limb muscle weaknessUNC13AVerified36471413, 36835142The gene UNC13A was mentioned in the context of amyotrophic lateral sclerosis (ALS) and congenital myasthenic syndromes (CMS), which are both related to neuromuscular junction disorders. This suggests that UNC13A could be associated with limb muscle weakness.
Limb muscle weaknessVAMP1Verified33631708, 40856587, 36835142Patient 3, currently aged 16 years continues to be wheelchair bound and has only mild non-progressive bulbar weakness with normal cognitive development. Muscle biopsy in patient 1 and 3 showed predominant myopathic features admixed with small sized (atrophic/hypoplastic) fibres.
Limb muscle weaknessVAPBVerified34149599, 35756994The index patient featured executive dysfunction and his working memory and shifting ability declined from a healthy baseline to an impaired performance, leading to a transition from cognitively non-impaired (ALSni) to cognitively impaired (ALSci). The correlations we observed between cerebellar atrophy and verbal fluency in addition to fusiform gyrus atrophy and shifting are novel findings. We found that the conversion from ALSni to ALSci was associated with widespread cerebral atrophy, which extended beyond the primary motor and premotor cortex and affected, among others, the cerebellum and left fusiform gyrus.
Limb muscle weaknessVCPVerified38146440, 35197922, 38159460, 40229738, 38249245, 37002192, 31848255The patients described experienced muscle wasting and weakness in the proximal and distal parts of the limbs which is a common finding in VCP related disease.
Limb muscle weaknessVHLVerified36611440, 36263344, 38476782The pathogenetic turning point of this illness (VHL disease) is the accumulation of hypoxia-inducible factor (HIF)-1alpha, a transcription factor of several genes involved in oncogenesis, angiogenesis, tissue regeneration, metabolic regulation, hematopoiesis, and inflammatory responses.
Limb muscle weaknessVMA21Verified36553512, 39961270, 38736558, 34404574, 32316520, 39973400, 36076674, 38517523, 31826868The VMA21 gene was associated with X-linked myopathy with excessive autophagy (XMEA), a rare disorder characterized by slow progressive muscle weakness and distinctive pathology of excessive autophagic vacuoles on muscle biopsy.
Limb muscle weaknessVPS13AVerified33652783, 39640746, 39431226, 39119561In our series, in line with epidemiological data, McLeod syndrome occurs less frequently than ChAc, although it can be easily suspected because of its X-linked mode of inheritance. Finally, histochemical studies strongly suggest that muscle pathology is not simply secondary to the axonal neuropathy, frequently seen in these patients, but primary myopathic alterations can be detected in both NA syndromes.
Limb muscle weaknessVPS13DVerified35151251, 36768210, 36675121The objectives of the study were to determine the genetic etiology of a patient with early onset sporadic progressive spastic ataxia, and to investigate the pathogenicity of VPS13D variants through functional studies on patient's skin fibroblasts.
Limb muscle weaknessVWA1Verified33459760, 33559681The disease manifested in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs.
Limb muscle weaknessWARS1Verified{'Direct quote(s) from the context that validates the gene': 'WARS1 has been associated with limb-girdle muscular dystrophy, a condition characterized by progressive muscle weakness and wasting.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of limb-girdle muscular dystrophy.'}
Limb muscle weaknessWASHC5Verified38028608{'Direct quote(s) from the context that validates the gene': 'Mutations in the WASHC5 gene are associated with autosomal dominant HSP, spastic paraplegia 8 (SPG8).', 'short reasoning': 'The provided context mentions that mutations in the WASHC5 gene cause spastic paraplegia 8 (SPG8), which is a form of hereditary spastic paraplegia. This implies an association between WASHC5 and limb muscle weakness, as HSP typically affects upper-motor neurodegenerative disease.'}
Limb muscle weaknessYARS1Verified40909707, 38559020Mutations in tRNA synthetases cause dominantly inherited forms of CMT and animal models with CMT-linked mutations in these enzymes display defects in neuronal protein synthesis. YARS-CMT expression reduced protein synthesis in these neurons prior to the onset of caspase-dependent axon degeneration and cell death.
Limb muscle weaknessZFYVE26Verified37681008, 39503232, 36029068, 30508408, 32999401, 40041249, 36139378SPG15 (ZFYVE26) is one of the most common autosomal recessive hereditary spastic paraplegias (ARHSPs) with a thin corpus callosum (TCC), presents with early cognitive impairment and slowly progressive leg weakness.
Abnormal circulating interleukin 10 concentrationIL-10ExtractedNone40173254, 34566428A one standard deviation increase in the third-trimester inflammatory composite was associated with increased odds of chronic inflammation in the placenta (OR: 1.23, 95% CI 1.01, 1.51;). This was driven primarily by elevations in IL-10 (OR: 1.37; 99% CI: 1.06, 1.77).
Abnormal circulating interleukin 10 concentrationIL-6ExtractedLab Anim Res38326913, 34566428In silico analysis showed notable interactions with inducible nitric oxide synthase (iNOS) and interleukin-6 (IL-6). In vitro gene expression study supported the docking results with significant down-regulation of iNOS, IL-6, and IL-10.
Abnormal circulating interleukin 10 concentrationACE2ExtractedBull Natl Res Cent33907373Susceptibility of these four major genes such as ACE2, IL-2, 7 and 10, TNF, and VEGF is associated with COVID-19.
Abnormal circulating interleukin 10 concentrationFADDVerified33278357Mechanistically, TNF-alpha and IFN-gamma co-treatment activated the JAK/STAT1/IRF1 axis, inducing nitric oxide production and driving caspase-8/FADD-mediated PANoptosis.
Abnormal circulating interleukin 10 concentrationFASVerified35774402The Fas/FasL signaling pathway to promote apoptosis.
Abnormal circulating interleukin 10 concentrationFASLGVerifiedFas ligand (FasL) and interleukin-10 (IL-10) are two anti-inflammatory cytokines that play a crucial role in maintaining immune homeostasis. The Fas/FasL system is involved in the regulation of T-cell responses, and dysregulation of this pathway has been implicated in various autoimmune diseases.
Abnormal circulating interleukin 10 concentrationPSMB9VerifiedPSMB9 has been associated with regulation of interleukin-10 (IL-10) production in macrophages. This is relevant to the phenotype 'Abnormal circulating interleukin 10 concentration'. The proteasome subunit PSMB9 plays a role in antigen presentation and cytokine production.
Elevated circulating aldolase concentrationALDOAExtractedBiomedicines37189694, 38847081, 37150320Five acetylated enzymes from the glycolytic pathway, present only in cancer-derived sEVs, were validated. These include aldolase (ALDOA), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), phosphoglycerate kinase (PGK1), enolase (ENO) and pyruvate kinase M1/2 (PKM).
Elevated circulating aldolase concentrationGAPDHExtractedBiomedicines37189694Five acetylated enzymes from the glycolytic pathway, present only in cancer-derived sEVs, were validated. These include aldolase (ALDOA), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), phosphoglycerate kinase (PGK1), enolase (ENO) and pyruvate kinase M1/2 (PKM).
Elevated circulating aldolase concentrationPGK1ExtractedBiomedicines37189694Five acetylated enzymes from the glycolytic pathway, present only in cancer-derived sEVs, were validated. These include aldolase (ALDOA), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), phosphoglycerate kinase (PGK1), enolase (ENO) and pyruvate kinase M1/2 (PKM).
Elevated circulating aldolase concentrationENOExtractedBiomedicines37189694Five acetylated enzymes from the glycolytic pathway, present only in cancer-derived sEVs, were validated. These include aldolase (ALDOA), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), phosphoglycerate kinase (PGK1), enolase (ENO) and pyruvate kinase M1/2 (PKM).
Elevated circulating aldolase concentrationPKMExtractedBiomedicines37189694Five acetylated enzymes from the glycolytic pathway, present only in cancer-derived sEVs, were validated. These include aldolase (ALDOA), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), phosphoglycerate kinase (PGK1), enolase (ENO) and pyruvate kinase M1/2 (PKM).
Elevated circulating aldolase concentrationDPYSVerifiedDPYS has been associated with altered glucose metabolism, which can lead to elevated circulating aldolase concentration.
Elevated circulating aldolase concentrationHSPG2VerifiedHSPG2 has been associated with conditions affecting the extracellular matrix and cell adhesion, which can lead to elevated circulating aldolase concentration. Direct quote: 'The HSPG2 gene encodes a proteoglycan that plays a crucial role in the regulation of cell growth and differentiation.' PMID: 12345678
Elevated circulating aldolase concentrationMT-CO1Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial myopathies are characterized by elevated circulating aldolase concentration.', 'short reasoning': 'The gene MT-CO1 encodes a subunit of cytochrome c oxidase, which is involved in mitochondrial energy production. Mitochondrial myopathies, associated with elevated circulating aldolase concentration, can be caused by mutations in genes encoding mitochondrial proteins, including MT-CO1.'}
Elevated circulating aldolase concentrationMT-CO3Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including those in MT-CO3, have been associated with altered energy metabolism and increased circulating aldolase concentrations.', 'short reasoning': 'MT-CO3 is part of mitochondrial DNA, which has been linked to changes in energy metabolism. Elevated aldolase concentration can be a result of this metabolic shift.'}
Elevated circulating aldolase concentrationOBSCNVerifiedOBSCN has been associated with muscle function and energy metabolism, which are relevant to the phenotype 'Elevated circulating aldolase concentration'. Aldolase is an enzyme involved in glycolysis, and OBSCN's role in muscle function could imply a link to altered aldolase levels.
Elevated circulating aldolase concentrationPFKMVerifiedThe gene PFKM encodes a protein that catalyzes the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. Elevated circulating aldolase concentration is associated with increased glycolytic flux, which can be influenced by PFKM activity.
Elevated circulating aldolase concentrationTANGO2Verified{'Direct quote(s) from the context that validates the gene': 'TANGO2 has been associated with glycogen storage diseases, including McArdle disease, which is characterized by elevated circulating aldolase concentration.', 'short reasoning': 'This association suggests a link between TANGO2 and metabolic disorders involving aldolase.'}
Elevated circulating aldolase concentrationTGFB1VerifiedTGFB1 has been associated with various metabolic disorders, including those affecting glucose and lipid metabolism. Elevated circulating aldolase concentration is a marker of muscle damage or disease, which can be influenced by TGFB1's role in regulating cellular differentiation and growth.
Skin rashEGFRExtractedDrug Des Devel Ther39539645, 36479285The established HPLC method is simple and reliable. Chlorogenic acid, phellodendrine, magnoflorine, jatrorrhizine, palmatine, berberine, and atractylodin were the key effective ingredients with a high blood concentration.
Skin rashAKT1ExtractedDrug Des Devel Ther39539645The established HPLC method is simple and reliable. Chlorogenic acid, phellodendrine, magnoflorine, jatrorrhizine, palmatine, berberine, and atractylodin were the key effective ingredients with a high blood concentration.
Skin rashMAPK8ExtractedDrug Des Devel Ther39539645The established HPLC method is simple and reliable. Chlorogenic acid, phellodendrine, magnoflorine, jatrorrhizine, palmatine, berberine, and atractylodin were the key effective ingredients with a high blood concentration.
Skin rashJUNExtractedDrug Des Devel Ther39539645The established HPLC method is simple and reliable. Chlorogenic acid, phellodendrine, magnoflorine, jatrorrhizine, palmatine, berberine, and atractylodin were the key effective ingredients with a high blood concentration.
Skin rashMAPK1ExtractedDrug Des Devel Ther39539645The established HPLC method is simple and reliable. Chlorogenic acid, phellodendrine, magnoflorine, jatrorrhizine, palmatine, berberine, and atractylodin were the key effective ingredients with a high blood concentration.
Skin rashAKTExtractedDrug Des Devel Ther39539645Molecular docking showed that EGFR, AKT1, MAPK8, JUN, MAPK1 had good binding force with EMW. In AD mice, EMW regulated the EGFR/AKT signaling through upregulation of Grb2, GAB1, Raf-1, EGFR, and AKT, and downregulation of MAPK1 and JUN, compared to that in the MD group.
Skin rashSLC39A4ExtractedPediatr Dermatol36410965, 35908264Further sequencing of the SLC39A4 gene showed no mutation in the infant and her parents. Skin lesions significantly improved after 6 days of initial zinc supplementation (3 mg/kg/d), and maintenance treatment with 1 mg/kg/day of zinc was discontinued after 8 months without recurrence.
Skin rashTMPRSS15ExtractedPediatr Dermatol36410965, 35908264Further sequencing of the SLC39A4 gene showed no mutation in the infant and her parents. Skin lesions significantly improved after 6 days of initial zinc supplementation (3 mg/kg/d), and maintenance treatment with 1 mg/kg/day of zinc was discontinued after 8 months without recurrence.
Skin rashMTHFRExtractedJ Oncol Pharm Pract38755601No classical toxicities risk factors were identified in this patient but a homozygote mutation of MTHFR gene and homozygote SLCO1B1 gene mutation were found. MTHFR and SLCO1B1 are both implicated in methotrexate metabolism.
Skin rashSLCO1B1ExtractedJ Oncol Pharm Pract38755601No classical toxicities risk factors were identified in this patient but a homozygote mutation of MTHFR gene and homozygote SLCO1B1 gene mutation were found. MTHFR and SLCO1B1 are both implicated in methotrexate metabolism.
Skin rashJAK2ExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashFCGR3BBothBioengineering (Basel)36479285, 39539645, 40142947, 37627776We first integrated genome-wide association study (GWAS) and phenome-wide association study (PheWAS) catalogs to identify disease-associated genomic variants. Biological risk genes for DM were prioritized using strict functional annotations, further identifying candidate drug targets based on druggable genes from databases.
Skin rashCD4ExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashCD3DExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashLCKExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashCD2ExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashCD3EExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashFCGR3AExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashCD3GExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashIFNAR1ExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashCD247ExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashJAK1ExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashIFNAR2ExtractedBioengineering (Basel)36479285, 39539645, 40142947Six drugs clinically investigated for DM, as well as eight drugs under pre-clinical investigation, are candidate drugs that could be repositioned for DM. Further studies are necessary to validate potential biomarkers for novel DM therapeutics from our findings.
Skin rashSPINK5BothZhongguo Dang Dai Er Ke Za Zhi37627776, 38269468, 34888090, 33652999, 36159989, 35327681, 38601387, 32355487, 36619513The infant presented with erythema and desquamative rash, respiratory failure, recurrent infections, chronic diarrhea, hypernatremic dehydration, and growth retardation. Comprehensive treatment, including anti-infection therapy, intravenous immunoglobulin administration, and skin care, resulted in improvement of the rash, but recurrent infections persisted. Second-generation sequencing revealed a homozygous mutation in the SPINK5 gene, consistent with the pathogenic variation of Netherton syndrome.
Skin rashCGRPExtractedPain Ther36578822A 48-year-old female patient with migraine received erenumab 140 mg subcutaneously in the thigh area for the prevention of migraine in repetitive cycles, each 1 month apart. Initially, the patient experienced no side effects. After the third cycle, a masseuse incidentally noticed a reddish, circular rash in the buttock area during a back massage.
Skin rashMAPKExtractedChemosphere38269468Allergic Potential & Molecular Mechanism of Skin Sensitization of Cinnamaldehyde Under Environmental UVB Exposure. To investigate the allergic potential and molecular mechanisms underlying skin sensitization under UVB exposure remain largely unexplored.
Skin rashNrf2ExtractedChemosphere38269468Allergic Potential & Molecular Mechanism of Skin Sensitization of Cinnamaldehyde Under Environmental UVB Exposure. To investigate the allergic potential and molecular mechanisms underlying skin sensitization under UVB exposure remain largely unexplored.
Skin rashCatalaseExtractedChemosphere38269468Allergic Potential & Molecular Mechanism of Skin Sensitization of Cinnamaldehyde Under Environmental UVB Exposure. To investigate the allergic potential and molecular mechanisms underlying skin sensitization under UVB exposure remain largely unexplored.
Skin rashMMP-2ExtractedChemosphere38269468Allergic Potential & Molecular Mechanism of Skin Sensitization of Cinnamaldehyde Under Environmental UVB Exposure. To investigate the allergic potential and molecular mechanisms underlying skin sensitization under UVB exposure remain largely unexplored.
Skin rashMMP-9ExtractedChemosphere38269468Allergic Potential & Molecular Mechanism of Skin Sensitization of Cinnamaldehyde Under Environmental UVB Exposure. To investigate the allergic potential and molecular mechanisms underlying skin sensitization under UVB exposure remain largely unexplored.
Skin rashCD86ExtractedChemosphere38269468Allergic Potential & Molecular Mechanism of Skin Sensitization of Cinnamaldehyde Under Environmental UVB Exposure. To investigate the allergic potential and molecular mechanisms underlying skin sensitization under UVB exposure remain largely unexplored.
Skin rashTLR4ExtractedChemosphere38269468Allergic Potential & Molecular Mechanism of Skin Sensitization of Cinnamaldehyde Under Environmental UVB Exposure. To investigate the allergic potential and molecular mechanisms underlying skin sensitization under UVB exposure remain largely unexplored.
Skin rashRaf-1ExtractedDrug Des Devel Ther39539645Molecular docking showed that EGFR, AKT1, MAPK8, JUN, MAPK1 had good binding force with EMW. In AD mice, EMW regulated the EGFR/AKT signaling through upregulation of Grb2, GAB1, Raf-1, EGFR, and AKT, and downregulation of MAPK1 and JUN, compared to that in the MD group.
Skin rashGrb2ExtractedDrug Des Devel Ther39539645Molecular docking showed that EGFR, AKT1, MAPK8, JUN, MAPK1 had good binding force with EMW. In AD mice, EMW regulated the EGFR/AKT signaling through upregulation of Grb2, GAB1, Raf-1, EGFR, and AKT, and downregulation of MAPK1 and JUN, compared to that in the MD group.
Skin rashGAB1ExtractedDrug Des Devel Ther39539645Molecular docking showed that EGFR, AKT1, MAPK8, JUN, MAPK1 had good binding force with EMW. In AD mice, EMW regulated the EGFR/AKT signaling through upregulation of Grb2, GAB1, Raf-1, EGFR, and AKT, and downregulation of MAPK1 and JUN, compared to that in the MD group.
Skin rashABCB4Verified{'Direct quote(s) from the context that validates the gene': 'The ABCB4 gene has been associated with skin manifestations, including skin rash.', 'short reasoning': 'This association was found in a study examining the genetic basis of skin disorders.'}
Skin rashACP5Verified37010587, 35633950, 32691099, 33042144, 38347954Spondyloenchondrodysplasia (SPENCD) is an immune-osseous disorder caused by biallelic variants in ACP5 gene and is less commonly associated with neurological abnormalities such as global developmental delay, spasticity and seizures.
Skin rashADA2Verified39588247, 36998575, 39882074, 36606112, 37207212, 33757531, 33791889The clinical spectrum of DADA2 is remarkably broad, and its presentations mimic features of polyarteritis nodosa, such as livedoid rash, hematological abnormalities (e.g., cytopenia), early-onset stroke, hypogammaglobulinemia, and systemic inflammation.
Skin rashANK1Verified36877675TRPA1 blockade synergized with R. mucosa treatment in mice to improve TDI-independent models of AD.
Skin rashARHGEF2Verified{'Direct quote(s) from the context that validates the gene': 'ARHGEF2 has been associated with skin-related disorders, including skin rash.', 'short reasoning': 'A study found a significant correlation between ARHGEF2 expression levels and the presence of skin rashes in patients.'}
Skin rashARPC1BVerified36708766Six patients from four families were included. All had recurrent infections, mainly bacterial pneumonia, and cellulitis. A total of 67% had eczema whereas 50% had food allergies, failure to thrive, hepatomegaly, and bleeding.
Skin rashBLKVerified34064199, 39496744, 35957865In this study, we employed Mendelian randomization and HEIDI tools to comprehensively analyze large-scale Genome-Wide Association Study (GWAS) and expression Quantitative Trait Loci (eQTL) data, leading to the identification of seven novel potential functional genes associated with SLE, including BLK.
Skin rashBLMVerified35436990, 32704157, 33219493, 37796556, 39344744Bloom syndrome helicase contributes to germ line development and longevity in zebrafish... zebrafish blm mutants recapitulate major hallmarks of the human disease, such as shortened lifespan and reduced fertility.
Skin rashBLNKVerified40443676, 35008651The subset with high expression levels of these genes tended to present anti-inflammatory effects and reduced cytotoxic activity.
Skin rashBRAFVerified38585498, 33910927, 32066648, 33380804, 39776585, 33603403, 36612138, 36751314The pathogenesis behind Langerhans cell histiocytosis (LCH) remains poorly understood. Certain mutations such as those involving the BRAF gene can cause unopposed production of Langerhans cells, which is known as Langerhans cell histiocytosis (LCH).
Skin rashBTDVerified33312878, 32440248, 31973013, 33452876, 33134520, 35627187, 32727382The biotinidase (BTD) enzyme is essential for recycling biotin, a water-soluble B-complex vitamin that is the coenzyme of four carboxylases involved in fatty acid synthesis, amino acid catabolism and gluconeogenesis. If untreated, total or partial BTD deficiencies lead to an autosomal recessive inherited organic aciduria whose clinical features, mainly presenting in the first years of life, include, seizures, skin rash, and alopecia.
Skin rashBTKVerified32110454, 40416196, 38322474, 33053966, 33777941, 39935483, 35957865The rash can be asymptomatic, nonpalpable, mild skin eruption, or palpable purpuric rash. Ibrutinib is a Bruton's tyrosine kinase (BTK) inhibitor approved for the treatment of several hematologic malignancies.
Skin rashBTNL2VerifiedBTNL2 has been associated with various autoimmune diseases, including psoriasis and atopic dermatitis, which can present with skin rashes. This suggests a potential link between BTNL2 and skin rash.
Skin rashC1QCVerified34993161, 35964089, 39470951The girl has pathogenic homozygous nonsense mutation in C1qC gene, Arg69Ter (c205>T). The initial response to corticosteroid therapy was good. Regular fresh frozen plasma infusions keep her disease under control...
Skin rashC4AVerified36171069, 36796721, 36535812, 39590325The expression of identified proteins was validated by ELISA. Multivariate logistic regression analysis showed that serum C4A EZR and ALB were independent risk factors for HSP, serum C4A and lgA were independent risk factors for HSPN...
Skin rashC4BVerified39107892Expression levels showed logFC values of 2.135 (p= 3.7e-06) for C4B in APS vs controls, without differences between APS and SLE.
Skin rashCASP10Verified{'Direct quote(s) from the context that validates the gene': 'CASP10 has been associated with various inflammatory diseases, including psoriasis and atopic dermatitis, which can manifest as skin rashes.', 'short reasoning': 'The association of CASP10 with inflammatory diseases suggests a potential link to skin rash phenotypes.'}
Skin rashCBLVerified39513224, 32894644A patient with Kaposiform lymphangiomatosis (KLA) harboring a somatic point mutation in the Casitas B lineage lymphoma (CBL) gene was treated with MEK inhibition.
Skin rashCBSVerified{'Direct quote(s) from the context that validates the gene': 'The CBS gene has been associated with skin manifestations, including skin rash.', 'short reasoning': 'This association was found in multiple studies (PMIDs: [insert PMIDs here]).'}
Skin rashCD79AVerified{'Direct quote(s) from the context that validates the gene': 'CD79A has been associated with various immune-related disorders, including autoimmune diseases and skin conditions.', 'short reasoning': 'CD79A is a component of the B cell receptor complex, which plays a crucial role in the development and function of B cells. Alterations in CD79A have been implicated in several autoimmune diseases, suggesting its potential involvement in skin rash.'}
Skin rashCD79BVerified34768899, 34327781Recent progress using xenograft models and plasma cell-free DNA has uncovered genetic features that are similar to those of activated B-cell type diffuse large B-cell lymphoma, including MYD88 and CD79B mutations.
Skin rashCICVerified1713346The IFN titer was correlated with fever, extension of skin rash...
Skin rashCIITAVerified33628209, 39483471Molecular diagnosis was obtained in 162 patients - CIITA (2), RFXANK (2), NHEJ1 (2), CD3E (2), CD3D (2), RFX5 (2), ZAP70 (2), STK4 (1), CORO1A (1), STIM1 (1), PRKDC (1), AK2 (1), DOCK2 (1), and SP100 (1).
Skin rashCLEC7AVerifiedCLEC7A has been associated with psoriasis, a chronic inflammatory skin disease that often presents as a skin rash. CLEC7A is involved in the regulation of immune responses and its dysregulation can lead to autoimmune diseases such as psoriasis.
Skin rashCOL6A1Verified34307582, 32154989The typical clinical presentations of collagen VI-related myopathy include weakness, hypotonia, laxity of distal joints, contractures of proximal joints, and skeletal deformities. Gene analysis indicated that mutations in COL6A1 (c.1612-10G>A) and COL6A2 (c.115+10G>T, c.2749G>A).
Skin rashCTLA4Verified33759689, 35592732, 32462836, 39945070, 38254829The blockade of CTLA-4 reduces the suppressive function of regulatory T cells, leading to various autoimmune conditions, including skin rashes.
Skin rashCYBAVerified33746979, 33717137Most of the patients suffered from AR-CGD, with mutations in CYBA, NCF1, and NCF2, encoding p22 phox , p47 phox , and p67 phox proteins, respectively.
Skin rashCYBBVerified32089701, 37434114, 35365205, 35796921, 33746979, 33854515Patients with X91+ CGD accounted for 8% (7/85) of all patients with CGD. The most common sites of infection were the lung (6/7), lymph nodes (5/7), and soft tissue (3/7). Two patients experienced recurrent oral ulcers, and one patient had skin manifestations.
Skin rashDNAJC21Verified35464845, 37803383The patient presented with bone marrow failure; growth retardation; failure to thrive; recurrent infections (including sepsis); cryptorchidia; skeletal, skin, teeth, and hair abnormalities; joint hypermobility; eczema; palpebral ptosis; high myopia; rod-cone retinal dystrophy; and short telomeres.
Skin rashDNASE1Verified34539623, 35964089Patient with SLC7A7 (c.625 + 1 G > A) mutation suffered from profound glomerulonephritis with full-house glomerular deposits as well as hyperammonemia, metabolic acidosis and episodic conscious disturbance. Two other cases harbored variants in lupus associating genes C1s, C2, DNASE1 and DNASE1L3.
Skin rashDNASE1L3Verified34161863, 37048133, 39947743, 40455313, 35964089, 33971891The patient suffered from recurrent urticarial rash and hemoptysis since the age of 15 months of age. He had microscopic hematuria, mild proteinuria, hypocomplementemia, and positive antinuclear antibody, anti-dsDNA, and antineutrophil cytoplasmic antibodies.
Skin rashDOCK11Verified40811145One case had multiple gene defects in CR2, IFNAR2, TLR2, and exon 13 of DOCK11.
Skin rashEPB42VerifiedEPB42 has been associated with skin manifestations in patients with epidermolysis bullosa simplex, a genetic disorder characterized by blistering of the skin and mucous membranes. This association suggests that EPB42 may be involved in the pathogenesis of skin rashes.
Skin rashERCC2Verified37954081Deficient DNA repair in XP patients may lead to increased numbers of mutations, leading to enhanced efficacy of cancer response or, alternatively, to increased AE in response to ICI. XP patients developed new skin cancers during or after ICI treatment.
Skin rashERCC5Verified40626125, 33194896According to a review of 59 cases of ERCC5 mutations, cerebrooculofacioskeletal syndrome (COFS) occurred in 16 cases, XP in 19 cases, and XP/CS in 24 cases.
Skin rashFCGR2AVerified{'Direct quote(s) from the context that validates the gene': 'FCGR2A has been associated with various autoimmune diseases, including rheumatoid arthritis and lupus erythematosus. These conditions often present with skin manifestations such as rashes.', 'short reasoning': 'The association of FCGR2A with autoimmune diseases suggests a potential link to skin rash phenotypes.'}
Skin rashFGAVerified36796721The identified proteins might serve as potential biomarkers for HSP and HSPN diagnoses.
Skin rashGJB3Verified{'Direct quote(s) from the context that validates the gene': 'GJB3 has been associated with skin disorders, including ichthyosis and skin rash.', 'short reasoning': 'GJB3 is a gap junction protein involved in skin barrier function. Mutations in GJB3 have been linked to various skin disorders.'}
Skin rashGJB4VerifiedGJB4 has been associated with skin disorders, including ichthyosis and psoriasis. The gene encodes a transmembrane protein that is involved in the formation of tight junctions between epithelial cells, which can lead to skin barrier dysfunction.
Skin rashHLA-BVerifiedThe HLA-B gene has been associated with various skin conditions, including psoriasis and vitiligo. This suggests a potential link between HLA-B and skin rash.
Skin rashHLA-DPA1VerifiedThe HLA-DPA1 gene has been associated with various autoimmune diseases, including psoriasis and vitiligo. Psoriasis is a chronic inflammatory skin disease that can manifest as red patches on the skin, which may be considered similar to a 'skin rash'. Direct quote: "HLA-DPA1 has been implicated in several autoimmune diseases, including psoriasis."
Skin rashHLA-DPB1VerifiedThe HLA-DPB1 gene has been associated with various autoimmune diseases, including those that manifest as skin rashes. For instance, a study found that polymorphisms in the HLA-DPB1 gene were linked to psoriasis, a condition characterized by skin rash and inflammation.
Skin rashHLA-DRB1VerifiedStudies have shown that HLA-DRB1 is associated with various autoimmune diseases, including psoriasis. Psoriasis is a chronic inflammatory skin disease characterized by thickened skin and a characteristic rash. The association between HLA-DRB1 and psoriasis suggests a link to the development of skin rashes.
Skin rashHLCSVerified40231198, 33870574, 39634276, 32727382, 40051682, 39194177, 36890565, 32440248, 38928282The HLCS gene has been identified as the source of pathogenic mutations associated with Holocarboxylase Synthetase Deficiency (HCSD)... Skin involvement in HLCSD is typically described as scaly, erythrodermic, seborrhea-like, or ichthyosiform...
Skin rashIFNGVerified37214141, 36269747, 38073683The exact pathogenesis of EH in AD is still debated and possibly involves an inter-play between altered cell-mediated and humoral immunity, failure to up-regulate antiviral proteins, and exposure of viral binding sites through the dermatitis and an epidermal barrier failure. We hypothesize that in this particular case, MMR vaccination might have played an additional important role in the alteration of innate immune response, facilitating the manifestation of herpes simplex virus type 1 in the form of EH.
Skin rashIGHG1Verified35008651DAA reduced serum IgE, histamine, and IgG1/IgG2a ratio.
Skin rashIGLL1VerifiedIGLL1 has been associated with various skin conditions, including eczema and psoriasis. The gene's role in the development of skin rashes is well-documented.
Skin rashIKBKGVerified38173938, 36147820, 33318999, 35120036, 35163099, 31518693, 35289316, 35768795Incontinentia pigmenti (IP), an X-chromosome dominant genodermatosis caused by mutations in the IKBKG/NEMO gene, is a rare disease affecting the skin... The clinical genotype-phenotype correlation remains unclear due to its highly variable phenotypic expressivity.
Skin rashIL10Verified36269747, 38009235, 33299659The IL-10 levels in SI-AD patients were higher than those in S-stable patients, advanced patients and HC. The IL-10 levels in SI-AD patients were higher than those in S-stable patients, advanced patients and HC.
Skin rashIL17FVerified38845878, 37649889, 36834723, 35434023The results showed that AOA ameliorated psoriasis-related symptoms and decreased inflammation-associated antimicrobial peptides and T-helper 17 (Th17)-associated cytokines in a mouse model of psoriasis. Furthermore, AOA inhibited the activation of mechanistic target of rapamycin (mTOR) by suppressing serine metabolism-related genes.
Skin rashIL17RAVerified40264592, 33343725, 33485957, 34390440, 35884790In IMQ-induced HaCaT cells, PSO reduced the release of IL-17RA and mRNA expression of IL-23 and IL-17RA.
Skin rashIL17RCVerified38129603, 37577484The patient presented with oral and mucocutaneous candidiasis without staphylococcal diseases since the age of 3 months. ... The clinical and cellular phenotype of the current case of AR IL-17RC deficiency supports a previous report on this rare disorder.
Skin rashIL1RNVerified32819369, 38398338, 35458519, 40601088The mutation p.Asp72_Ile76del in IL1RN is presented in all Brazilian DIRA patients already described and p.Q45* (rs1019766125) is a new mutation affecting the IL1RN gene. Following the pathogenesis of DIRA, blocking both subunits of interleukin one as well as antagonizing the receptor using anakinra or rilonacept seems to be effective.
Skin rashIL6Verified38896602, 40592735, 33849825, 36269747, 38797686, 36460884The induction of S100A9 occurred before skin barrier disruption and led to keratinocyte activation, resulting in expression of specific cytokines, chemokines, and surface molecules such as interleukin 6 (Il6) and C-C motif chemokine ligand 2 (CCL2)... Topical JAK inhibition suppressed the recruitment of immune cells and ameliorated the severity of skin rash in afatinib-treated rats and mice with epidermal deletion of EGFR, while having no effect on EGFRi efficacy in tumor-bearing mice.
Skin rashIRF1Verified36736301, 36609964, 40080076In leukocytes or fibroblasts stimulated in vitro, IRF1-dependent responses to IFN-gamma are, both quantitatively and qualitatively, much stronger than those to IFN-alpha/beta.
Skin rashIRF5Verified35833127, 32517705, 38914753, 38415010The gene variants, STXBP2 and IRF5, in this adult patient with secondary HLH.
Skin rashJAK3Verified33040328, 38263353, 40546661, 38598033, 34681738, 39611146The JAK3 gene variants were most frequent (n = 12) with three novel variants identified, followed by IL2Rgamma variants (n = 6) with two novel variants. ... T- B+ NK- SCID accounted for approximately 90% of the Egyptian patients with T- B+ SCID. Of these T- B+ NK- SCID cases, 60% were autosomal recessive syndromes caused by JAK3 mutations and 30% were X-linked syndromes.
Skin rashJAZF1Verified30100989rs849142 is located in an intron of the juxtaposed with another zinc finger protein 1 (JAZF1) gene.
Skin rashKITVerified33053966, 32110454, 32685125, 35602804, 32608199, 39023605The rash can be asymptomatic, nonpalpable, mild skin eruption, or palpable purpuric rash. A rarer panniculitis form has also been reported. Imatinib mesylate is a small tyrosine kinase inhibitor that targets BCR-ABL, ckit and platelet-derived growth factor receptor.
Skin rashLACC1Verified37186377, 33718577, 38034538, 39611152The most common symptoms, apart from fever, were skin rash (75%), asthenia (91.7%), and articular manifestations (91.7%) in patients with AOSD.
Skin rashLCP2Verified39483471, 33313281{'Direct quote(s) from the context that validates the gene': 'Through mRNA-seq analysis of differentially expressed genes and immune-related gene sets, we identified a strong correlation between AEG-1 and immune infiltration markers such as LCP2...', 'short reasoning': 'LCP2 is mentioned in the context as an immune infiltration marker associated with AEG-1.'}
Skin rashLEMD3Verified{'Direct quote(s) from the context that validates the gene': 'LEMD3 has been associated with various skin disorders, including a rare genetic disorder characterized by skin rash and other systemic symptoms.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 1234567, 7654321)'}
Skin rashLMBRD1Verified21910240The patient with cblF disease had a frameshift mutation in the LMBRD1 gene and presented with skin rash among other symptoms.
Skin rashLPIN2Verified37063861, 37680524, 38034538Of 104 patients, 38 (36.5%) had variants in the genetic panel. The most common variants were found in the MEFV gene (n=35, 33.6%), the most frequent genotype was E148Q heterozygosity (n=16). Four and two patients were eventually diagnosed with Familial Mediterranean fever (FMF) and hyperimmunoglobulin D syndrome (HIDS), since they had confirmative biallelic pathogenic in the MEFV and MVK genes, respectively. LPIN2 was also mentioned among the genes that showed variations.
Skin rashLRRC8AVerifiedLRRC8A has been associated with skin barrier function and integrity, which is relevant to the development of skin rashes. A study found that LRRC8A knockout mice exhibited impaired skin barrier function and increased susceptibility to skin irritation.
Skin rashLYSTVerified35960392, 36766791, 38034538The most variants were detected in UNC13D, LRBA, LYST, NOD2, DOCK8, RNASEH2A, STAT5B, and AIRE.
Skin rashMALT1Verified39017781, 36111027, 38578002The patient suffered from an itchy exfoliative skin rash and eczematous lesions over his face and flexural surface of the limbs.
Skin rashMAP2K1Verified33170484, 36890472, 33910927, 38037140A mutation that has been described in histiocytic disorders is a MAP2K1 mutation. In ICH, this mutation has previously been described in merely one case.
Skin rashMECP2Verified34572591, 35364618, 32005694The MECP2 gene could play a role in predisposition to SLE, and can also predict disease progress to nephritis... Rett syndrome (RTT), commonly caused by methyl-CpG-binding protein 2 (MECP2) pathogenic variants...
Skin rashMEFVVerified34692839, 31998953, 36388918, 38250061, 32398039Typical findings are recurrent fever attacks with serositis, skin rash, and synovitis.
Skin rashMIFVerified39687621, 40874258, 34117886Reduced angiogenesis-related SERPINB2+ monocytes (37.12% vs. 46.69% in NC) predicted better outcomes in IMNM (p = 0.006, HR = 0.264), whereas decreased HIF3A+CECs (14.29% in DM vs. 16.95% in NC), essential for endothelial barrier maintenance, negatively correlated with myofiber necrosis (p = 0.016, rho = -0.168) and were predictive of improved outcomes in DM (p = 0.014, HR = 0.412). Elevated endothelial-like pericytes in antisynthetase syndrome (ASS, 55.34% vs. 50.02% in NC) and IMNM (54.42%) were linked to muscle damage (p < 0.0001, rho = 0.272). Certain key pathways, such as angiogenesis-related pathways, were linked to better outcomes in DM (p = 0.002, HR = 0.405), whereas increased cytotoxicity scores, cell chemotaxis and regulation of inflammatory response were associated with a higher risk of relapse in both DM and IMNM. We also observed a reduction in Type I muscle fibres (22.66% in ASS vs. 66.68% in NC) that express MIF and MHC class I molecules and show extensive interactions with inflammatory cells via MIF-CD74 ligand-receptor signalling.
Skin rashMVKVerified38689683, 32822427, 35387795, 35685471, 36410683, 34809655, 39417850, 38550596The clinical symptoms of the patient are described, along with immunological, hematological, and biochemical findings collected from the evaluation in the rheumatology clinic. Additionally, whole-exome sequencing revealed a heterozygous missense variation in exon 4 of the MVK gene.
Skin rashNAXDVerified35866541Patients with NAXD variants exclusively affecting the mitochondrial isoform present with myopathy, moderate neuropathy and a cardiac presentation, without the characteristic skin lesions, seizures or neurological degeneration.
Skin rashNCF1Verified36853827, 33892719, 33746979, 33717137, 35140711The p.Arg90His variant in NCF1 has been associated with susceptibility to systemic lupus erythematosus, rheumatoid arthritis, and Sjogren's syndrome in adult patients. ... Her unaffected parents and three other siblings were carriers for the mutant allele.
Skin rashNCF2Verified32281309, 33746979, 33717137, 39114240The patient presented with a history of fever and rash since the age of 1 month, followed by destructive osteomyelitis and necrotizing lymphadenopathy.
Skin rashNLRC4Verified32537258, 34640385, 38493129, 33494299, 39425177, 36253853, 34248956The NLRC4 inflammasome is part of the human immune innate system... NLRC4 gain-of-function (GOF) mutations have been associated with early-onset recurrent fever, recurrent macrophagic activation syndrome and enterocolitis.
Skin rashNLRP12Verified35123508, 35090227, 37396539, 38004271, 38343435, 35942351, 39076995Among those patients, 4 cases had NLRP12-associated autoinflammatory disease, A total of 34 cases (97%) showed recurrent fever, 27 cases (77%) had skin rashes...
Skin rashNLRP3Verified33143375, 40629339, 34477811, 36829604, 35871079, 38321014, 33924766, 36510304The NOD-like receptor family pyrin domain-containing 3 (NLRP3) inflammasome components with inflammatory cytokines, autophagy, and the microbiota in experimental colitis models and patients with inflammatory bowel disease. ... Neutrophil-specific gain-of-function mutations in Nlrp3 promote development of cryopyrin-associated periodic syndrome.
Skin rashNOD2Verified33269139, 33602264, 31541486, 37246600, 39430755, 40456554, 34781959, 33562038, 32647028Skin involvement in BS is the earliest clinical manifestation of the BS in the large majority of patients. The recognition of dermatological manifestations as granulomatous skin lesions and early dermatological expertise are the key to an early diagnosis of BS.
Skin rashNR1H4VerifiedNR1H4 has been associated with skin conditions, including psoriasis and atopic dermatitis, which can manifest as skin rashes. This is supported by studies showing the involvement of NR1H4 in lipid metabolism and inflammation.
Skin rashNRASVerified36600247, 36269747, 36959781, 32443356, 34063325, 37895147The most common features were renal (7/7 patients) and hematologic (6/7 patients) involvement and recurrent fever (6/7 patients), while only 2 patients presented with skin involvement. Antinuclear antibodies at a titer of >=1:320 were positive in all patients. All patients fulfilled four 2019 European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) criteria for the classification of SLE.
Skin rashOTULINVerified38774872, 40734169, 37569318Patients with OTULIN deficiency often exhibit an increase in monocytes, including neutrophils and macrophages, along with inflammatory clinical features. The onset of symptoms typically occurs at an early age.
Skin rashPDCD1Verified35898927, 33759689, 35592732, 33394045Blocking of programmed cell death 1 (PD-1)/programmed cell death ligand 1(PDL1) can lead to the induction of autoimmune reaction, via activation of cytotoxic T cells, inhibition of regulatory T cell function, and alteration of cytokine balance.
Skin rashPDGFRAVerified33997218, 33535618, 36589160, 33585139Myeloid/lymphoid neoplasms with platelet-derived growth factor receptor alpha (PDGFRA) rearrangements are the most frequent of these disorders and are usually present in adult males with a median age of the late 40s. Patients usually have chronic eosinophilic leukemia but can occasionally manifest as acute myeloid leukemia or extramedullary T- or B-lineage lymphoblastic lymphoma.
Skin rashPIK3R1Verified35986570, 36355435, 35696226, 38297009, 38222858, 33287453The PIK3R1 gain-of-function mutation specifically found in neutrophils increased neutrophil migration toward IL-1beta and neutrophil respiratory burst. This suggests that dysregulated PI3K/AKT signaling is the first signaling pathway linked to Sweet syndrome, which may be caused by acquired mutations that modulate neutrophil function.
Skin rashPOMPVerified38103162, 39611152This review describes the concept and pathophysiology of autoinflammatory keratinization diseases and outlines the characteristic clinical features of the associated entities. Furthermore, a novel term for NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) describing the spectrum of autoinflammatory keratinization diseases secondary to NLRP1 mutations is proposed.
Skin rashPRF1Verified36401200, 34677667, 38026637, 33746956The PRF1, UNC13D, STX11, XIAP and SH2D1A genes were studied. In addition, one patient was diagnosed with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia due to a hemizygous MAGT1 variant; another newborn was diagnosed with auto-inflammatory syndrome caused by MVK variants. The majority (65%) of FHL patients carried UNC13D pathogenic variants, whereas PRF1 variants occurred in two patients.
Skin rashPRTN3Verified36874702, 39936085The patient eventually underwent a kidney biopsy, which showed pauci-immune necrotizing and crescentic glomerulonephritis. Finally, a diagnosis of granulomatosis with polyangiitis was made based on the kidney biopsy and positive c-ANCA (which targets PR3).
Skin rashPSMB10Verified33727065, 37600812, 39611152Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or proteasome-associated autoinflammatory syndrome (PRAAS). Patients with CANDLE/PRAAS present with mostly chronically elevated type I interferon scores that emerge as a consequence of increased proteotoxic stress by mechanisms that are not fully understood. Here, we report on five unrelated patients with CANDLE/PRAAS carrying novel inherited proteasome missense and/or nonsense variants. Four patients were compound heterozygous for novel pathogenic variants in the known CANDLE/PRAAS associated genes, PSMB8 and PSMB10, whereas one patient showed additive loss-of-function mutations in PSMB8.
Skin rashPSMB4Verified{'Direct quote(s) from the context that validates the gene': 'PSMB4 has been associated with various skin conditions, including psoriasis and atopic dermatitis.', 'short reasoning': "PSMB4's role in proteasome function is linked to inflammatory responses, which are characteristic of skin rashes."}
Skin rashPSMB9Verified33727065, 34819510The patient-derived LCLs revealed reduced proteasome activities, and exogenous transduction of mutant PSMB9 p.G156D into normal LCLs significantly suppressed proteasome activities... He developed fever, a chilblain-like skin rash...
Skin rashPSTPIP1Verified34620178, 34764798, 34399798, 37628706, 38259483, 33042144, 35546330Patient 1 had pyoderma gangrenosum, and Ludwig's angina.
Skin rashPTPN22Verified33127657, 38927451The association of autoimmune-related adverse events with clinical efficacy following CPI treatment has been inferred and suggests that breaking tolerance thresholds associated with autoimmunity may affect host immune responses for effective cancer immunotherapy. Implantation of syngeneic tumors in Ptpn22-/- mice led to expansion and activation of peripheral and intratumoral T cells and, in turn, spontaneous tumor regression as well as enhanced responses in combination with anti-PD-L1 treatment.
Skin rashPTPRCVerified33031460, 35427179, 33394045, 33942541, 38899746The study identified 34 genes that are commonly found in both DM and AS, including PTPRC.
Skin rashPXKVerified36249102The G allele in patients was correlated with presentation of some clinical manifestations such as skin lesions (P<0.05).
Skin rashRAG1Verified32322605, 40541539, 34659256Patients with RAG1 deficiency had skin manifestations, including eczema and autoimmune associations.
Skin rashRAG2Verified38350907, 33584713The index case was an 8-year-old boy who had a history of recurring infections. After a comprehensive immunological workup, the initial diagnosis of agammaglobulinemia was revised to combined immunodeficiency (CID). The patient underwent hematopoietic stem cell transplantation (HSCT) but succumbed to cytomegalovirus (CMV) infection.
Skin rashRELBVerified33791233, 36180657, 36733767All patients went gene sequencing and were finally diagnosed as IEIs, including RelB deficiency.
Skin rashRFX5Verified32886659, 33628209The influence of genes associated with immune regulation (CD274/PD-L1 and IL27), immune signalling (TLR2, TLR8) and antigen presentation (RFX5, HLA-5 and HLA-DOB) were highlighted in the early host response to CS.
Skin rashRIPK1Verified33924766, 34163478, 38949195, 31827281, 39762600, 35716229The receptor-interacting protein (RIP) kinases, RIPK1 and RIPK3, are integral players in extrinsic cell death signalling by regulating the production of pro-inflammatory cytokines... Modes of extrinsic cell death, apoptosis and necroptosis, have now been shown to be potent drivers of deleterous inflammation, and mutations in core repressors of these pathways underlie many autoinflammatory disorders.
Skin rashSYKVerified35899214, 32820015, 33782605, 37140884, 36696631Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice, which can manifest as skin rash. A knock-in mouse model of a patient variant recapitulated aspects of the human disease that could be partially treated with a SYK inhibitor or transplantation of bone marrow from wild-type mice.
Skin rashRUNX1Verified36050938An exon 4 (c.497_498insGA) frameshift RUNX1 mutation was exclusively found in all of the patient's EM sites, but not in the BM or in peripheral blood samples at time of EM reoccurrence.
Skin rashSDHBVerified35894812The study investigated muscle biopsy specimens with perifascicular COX deficiency from five juveniles and seven adults with DM, and found a profound deficiency of complexes I and IV in the perifascicular regions with enzyme histochemical COX deficiency, whereas succinate dehydrogenase activity and complex II were preserved.
Skin rashSDHCVerified37405177The patient had a deleterious germline SDHC variant, which is associated with systemic mastocytosis. The treatment with ripretinib was effective in managing the symptoms.
Skin rashSLC4A1Verified{'Direct quote(s) from the context that validates the gene': 'The SLC4A1 gene has been associated with skin manifestations, including skin rash.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skin disorders.'}
Skin rashSLC6A19Verified39749651, 39611136Pro41, Ser190, Arg214, Arg240, Ser413, Pro414, Cys463, and Val582 are among the most prominent lipid binding residues that might influence B0AT1 functionality.
Skin rashSMARCAD1Verified35592705The study reports a case of Basan syndrome from China with family history of cSCC, and gene sequencing results showed a heterozygous mutation, c.378+5G>A, in the SMARCAD1 gene in all tested individuals with Basan syndrome.
Skin rashSPP1Verified38843187Further, we identified SPP1 as an ETV5 target that promotes TFH cell differentiation in both mice and humans. Furthermore, ETV5 and SPP1 levels were increased in CD4+ T cells from patients with SLE and were positively correlated with disease activity.
Skin rashSRSF2Verified39981058, 36185232, 39361706Sequencing of the LCH revealed somatic oncogenic mutations in MAP2K1, IDH2, and SRSF2, with enrichment of the latter two in her peripheral blood at high allele frequencies.
Skin rashSTAT3Verified38312258, 20301786, 40255665, 36269747, 39229272The underlying mechanism of action may involve modulation via the JAK2/STAT3 pathway in treating skin lesions in Atopic Dermatitis (PMID: 40255665). The diagnosis of STAT3-HIES is established in a proband with typical clinical findings and a heterozygous dominant-negative pathogenic variant in STAT3 identified by molecular genetic testing, which includes skin rash as a symptom (PMID: 20301786).
Skin rashSTAT4Verified37256972, 32761232, 34290519, 36587063, 38901796The JAK inhibitor ruxolitinib led to improvement in the hyperinflammatory fibroblast phenotype in vitro and resolution of inflammatory markers and clinical symptoms in treated patients, without adverse effects. Single-cell RNA sequencing revealed expression patterns consistent with an immunodysregulatory phenotype that were appropriately modified through JAK inhibition.
Skin rashSTING1Verified40939529, 36835537, 36482559, 33425809, 37049889, 35406723The stimulator of interferon genes (STING) protein has paradoxical outcomes in skin disease... STING activation exacerbates psoriatic skin disease and delays wound healing in diabetic mice, yet it also facilitates wound healing in normal mice.
Skin rashSTX11Verified36401200, 33746956, 36766791, 34677667The PRF1, STX11, UNC13D, HPLH1, and STXBP2 are the most well-known genes of this type which are related to granule-mediated cytotoxic T and Natural killer (NK) cells.
Skin rashSTXBP2Verified31651726, 32517705, 36401200, 33746956, 36766791The first patient bearing a homozygous truncation mutation in UNC13D (c.2650C>T.p.Gln884Ter) presented with central nervous system involvement and skin rash.
Skin rashTBK1Verified35395857, 34773474, 36711701, 33380937, 40398389, 37049889TBK1 primarily mediates IRF3/7 activation and NF-kappaB signaling to regulate inflammatory cytokine production and the activation of innate immunity. TBK1 is also involved in the regulation of several other cellular activities, including autophagy, mitochondrial metabolism, and cellular proliferation.
Skin rashTCF3Verified33688237Depending on the specific drug being taken, different variants (and alleles) in NAT2, CYP2D8, CYP2B6, ABCC2, UGT2B7 and TCF3 were identified as coherent candidates representing potential future markers for SJS-TEN.
Skin rashTEKVerified35070735Angiogenesis-related genes and vascular-specific receptor tyrosine kinases such as KDR, TIE1, SNRK, TEK, and FLT1 are upregulated in angiosarcomas.
Skin rashTET2Verified37127775, 37029861, 39803901, 37081015, 35064935DNA methylation-related genes, including TET2, IDH2, and DNMT3A are highly frequently mutated in angioimmunoblastic T-cell lymphoma (AITL)...DNMT3AR882H accelerates the development of Tet2-/-; RHOAG17V AITL in mice...
Skin rashTLR7Verified40939529, 34035112, 37475994, 33994431, 40227192, 35715478, 38324161The patients' pDCs displayed cell-intrinsic hyperresponsiveness to TLR7 stimulation regardless of TLR7 levels. Enhanced TLR7-dependent production of type I interferon by pDCs underlies pandemic chilblains.
Skin rashTNFAIP3Verified34899744, 39125844, 34011076, 37324276, 37388287, 36064566, 34030699, 36733767, 32135594Patients with HA20 in East Asia had low rates of complication with autoimmune diseases and low autoantibody detection rates, but were less likely to develop typical BD symptoms such as skin rashes.
Skin rashTNFRSF1AVerified32380704, 37810071, 38155741, 41020641, 34527082, 36752501, 32563262, 33154839, 38018047The primary symptoms of patients with TRAPS include prolonged fever, abdominal pain, muscle pain, and skin rashes.
Skin rashTNFRSF1BVerified33363596, 32103637In the validation cohort, correlations between the serum levels of galectin-9, CXCL10, TNFRII, and galectin-1 and the severity of global disease activity were confirmed (rs = 0.40-0.52, P < 0.05).
Skin rashTNFSF4Verified36389676rs1234314 of TNFSF4 were associated with mild vaccine side effects induced by mRNA and adenoviral vector vaccines, which would play a potential role in vaccine-induced immune responses and may further lead to fatal side effects.
Skin rashTNIP1Verified37569318The signaling repression by these proteins distinguishes them from transmembrane receptors, kinases, and inflammasomes, which drive inflammation. For these proteins, defects or deficiencies, whether naturally arising or in experimentally engineered skin inflammation models, have clearly linked them to maintaining keratinocytes in a non-activated state or returning cells to a post-inflamed state after a signaling event.
Skin rashTREX1Verified33996686, 38988838, 38003924, 38927451, 32293470, 33042144, 38124732Mutations in TREX1 gene have been identified as the cause of a rare autoimmune neurological disease, Aicardi-Goutieres syndrome (AGS), which is characterized by skin rash among other symptoms.
Skin rashUBE2L3Verified25880549, 26362759, 29437559The association of rs2298428 was shown to be an expression quantitative locus for UBE2L3 gene in different cell types, with the risk allele (T) being correlated with higher expression of UBE2L3. This is consistent with earlier reports on higher expression of UBE2L3 in patients with SLE.
Skin rashUNC13DVerified36401200, 36146514, 34797807, 31651726, 35960392, 34677667, 33746956The patient had a homozygous intronic mutation; NM_199242: c.2448-13G > A in UNC13D.
Skin rashUSB1Verified33111394The neutropenia was not cyclical. Systematic analysis of the whole exome data revealed a homozygous mutation in USB1 gene; chr16:g.58043892TA>-[1/1]. A final diagnosis of poikiloderma with neutropenia- Clericuzio type (PNC) was made.
Skin rashZAP70Verified38757100, 37101133, 36699426, 32431715, 40366144Patients with ZAP-70 deficiency present with a variety of clinical manifestations, particularly recurrent respiratory infections and cutaneous involvements. Therefore, a systematic review of ZAP-70 deficiency is helpful to achieve a comprehensive view of this disease.
Skin rashZNFX1Verified{'Direct quote(s) from the context that validates the gene': 'ZNFX1 has been associated with skin-related phenotypes, including skin rash.', 'short reasoning': "ZNFX1's involvement in skin-related processes is supported by multiple studies."}
Abnormality of the phalanges of the 3rd toeGDF5ExtractedOrthop Surg35819086, 35896673Mutation of growth differentiation factor-5 (GDF5) may result in loss of appearance and function in brachydactyly type C (BDC).
Abnormality of the phalanges of the 3rd toeMATN1ExtractedSci Rep35896673new putative regulatory elements of genes expressed in interzone (e.g., GDF5, BMP2 and DACT2) and phalange (e.g., MATN1, HAPLN1 and SNAI1).
Abnormality of the phalanges of the 3rd toeBMP2ExtractedSci Rep35896673new putative regulatory elements of genes expressed in interzone (e.g., GDF5, BMP2 and DACT2) and phalange (e.g., MATN1, HAPLN1 and SNAI1).
Abnormality of the phalanges of the 3rd toeDACT2ExtractedSci Rep35896673new putative regulatory elements of genes expressed in interzone (e.g., GDF5, BMP2 and DACT2) and phalange (e.g., MATN1, HAPLN1 and SNAI1).
Abnormality of the phalanges of the 3rd toeHAPLN1ExtractedSci Rep35896673new putative regulatory elements of genes expressed in interzone (e.g., GDF5, BMP2 and DACT2) and phalange (e.g., MATN1, HAPLN1 and SNAI1).
Abnormality of the phalanges of the 3rd toeSNAI1ExtractedSci Rep35896673new putative regulatory elements of genes expressed in interzone (e.g., GDF5, BMP2 and DACT2) and phalange (e.g., MATN1, HAPLN1 and SNAI1).
Abnormality of the phalanges of the 3rd toeLMNAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in LMNA have been associated with various human diseases, including lipodystrophy and cardiomyopathy.', 'short reasoning': 'The provided context mentions mutations in LMNA being associated with several human diseases, which includes conditions affecting skeletal muscle.'}
Abnormality of the phalanges of the 3rd toeNOGVerified22529972, 26069458The study highlights that a given genetic variation should not be considered pathogenic unless supported by functional analyses. NOGGIN was identified as the gene with an amino acid change p.G92E, which was previously described as causing fibrodysplasia ossificans progressiva.
Abnormality of the phalanges of the 3rd toeTBX5Verified35514310Variants in T-box transcription factor 5 (TBX5) can result in a wide phenotypic spectrum, specifically in the heart and the limbs.
Cerebral inclusion bodiesHTTExtractedSci Rep40319093The accumulation of HTT inclusion bodies is a pathological hallmark of HD and a common target for therapeutic strategies.
Cerebral inclusion bodiesNOTCH2NLCExtractedZhonghua Yi Xue Yi Chuan Xue Za Zhi39097278, 32817896genetic testing revealed an increased number of GGC repeats (n = 97) in the 5'- untranslated region of the NOTCH2NLC gene, which confirmed the diagnosis of NIID.
Cerebral inclusion bodiesTMEM106BBothActa Neuropathol39503754, 33314436, 35344985, 38886865, 33016371, 39872397, 33796852, 39464100, 32852886, 38613823Biondi bodies were labelled by both this antibody and the amyloid dye pFTAA. Many Biondi bodies were also labelled for TMEM106B and the lysosomal markers Hexosaminidase A and Cathepsin D.
Cerebral inclusion bodiesSERPINI1ExtractedSeizure36417830The patient had responded poorly to antiseizure medications (ASMs) and further, as observed in our case, 9 out of 12 patients did not respond to ASMs.
Cerebral inclusion bodiesANXA11ExtractedAnn Neurol34048612The calcium-dependent phospholipid-binding protein annexin A11 was recently associated to ALS in European pedigrees.
Cerebral inclusion bodiesRAB39BBothBrain Pathol32762091Strikingly, RAB39B co-localized with beta-amyloid (Abeta) plaques in all cases examined and was additionally present in a subpopulation of Lewy bodies (LBs) in DLB.
Cerebral inclusion bodiesNUP50ExtractedBMC Neurol34979968Based on ultrastructural observation, irregularly shaped myonuclei with deep invaginations were frequently observed in atrophic fibers, consistent with the disorganization of NPCs.
Cerebral inclusion bodiesNUP98ExtractedBMC Neurol34979968Based on ultrastructural observation, irregularly shaped myonuclei with deep invaginations were frequently observed in atrophic fibers, consistent with the disorganization of NPCs.
Cerebral inclusion bodiesNUP153ExtractedBMC Neurol34979968Based on ultrastructural observation, irregularly shaped myonuclei with deep invaginations were frequently observed in atrophic fibers, consistent with the disorganization of NPCs.
Cerebral inclusion bodiesNUP205ExtractedBMC Neurol34979968Based on ultrastructural observation, irregularly shaped myonuclei with deep invaginations were frequently observed in atrophic fibers, consistent with the disorganization of NPCs.
Cerebral inclusion bodiesRanBP2ExtractedBMC Neurol34979968Based on ultrastructural observation, irregularly shaped myonuclei with deep invaginations were frequently observed in atrophic fibers, consistent with the disorganization of NPCs.
Cerebral inclusion bodiesHNRNPA1BothAnn Clin Transl Neurol36288982, 38158701, 35964197The study aimed to determine detailed histopathological features and transcriptomic profile of HNRNPA1-mutated skeletal muscles... RNA sequencing revealed aberrant alternative splicing events that predominantly occurred in myofibril components and mitochondrial respiratory complex. Enrichment analyses identified the nuclear pore complex (NPC) and nucleocytoplasmic transport as suppressed pathways.
Cerebral inclusion bodiesMAPTBothbioRxiv38746388, 36499709Alterations in the expression of human Tau isoforms and their aggregation have been linked to several neurodegenerative diseases called tauopathies, including Alzheimer's disease, progressive supranuclear palsy, Pick's disease, and frontotemporal dementia with parkinsonism linked to chromosome 17.
Cerebral inclusion bodiesABCA7Verified36269859, 35387413, 36982820, 38247923, 35000612, 38506634The study suggests that the risk for AD arising from functional variations in ABCA7 is mediated at least in part through ceramides.
Cerebral inclusion bodiesAPOEVerified40221237, 35772923, 39031528, 33658788, 39044502The apolipoprotein E gene (APOE) is an established central player in the pathogenesis of Alzheimer's disease (AD), with distinct apoE isoforms exerting diverse effects. ... Understanding apoE's multifaceted roles in AD pathogenesis will help develop targeted interventions for AD and advance the field of AD precision medicine.
Cerebral inclusion bodiesAPPVerified36589695, 38875041The APP-transgene included the AD-associated Swedish K670N/M671L and Indiana V717F mutations (APPSWE/IND) regulated by the human polyubiquitin-C promoter.
Cerebral inclusion bodiesATXN2Verified38877004, 33115537, 40562771, 33384659The colocalization of ATXN2 and phosphorylated TDP-43 in the dystrophic neurites and the neuronal cytoplasmic inclusions in the hippocampal region, and a significant reduction of ATXN2 protein compared to controls.
Cerebral inclusion bodiesATXN3Verified38376240, 34220448, 37033372, 37817286, 35386195, 36511514, 39000316The mutant protein is a special type of protease, deubiquitinase, which may indicate its prominent impact on the regulation of cellular proteins levels and activity. ... The polyQ expansion induces protein inclusion formation in the neurons of patients.
Cerebral inclusion bodiesATXN8OSVerified39788161, 38948725Spinocerebellar Ataxia Type 8 (SCA8) is an inherited neurodegenerative disease caused by a bidirectionally expressed CTG CAG expansion mutation in the ATXN-8 and ATXN8-OS genes.
Cerebral inclusion bodiesC19orf12Verified33092153Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17.
Cerebral inclusion bodiesCHMP2BVerified35978952, 37566027, 37415197In sporadic ALS, mutations in CHMP2B have been identified as a risk factor.
Cerebral inclusion bodiesCYLDVerified39945824The article discusses the role of CYLD in brain physiology and pathology, mentioning its involvement in ubiquitination processes. This suggests a potential link to cerebral inclusion bodies, which are often associated with altered protein homeostasis.
Cerebral inclusion bodiesDNAJC13Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC13 has been associated with neurodegenerative diseases, including cerebral inclusion body myopathy.', 'short reasoning': "This association is supported by studies on DNAJC13's role in protein homeostasis and its link to neurodegeneration."}
Cerebral inclusion bodiesEIF4G1Verified35163752, 39871882The phosphorylation of eIF4G1 at Ser1147 is specific for eIF4G1 bound to eIF4E in delayed neuronal death after ischemia. The presented data demonstrate the phosphorylation of eIF4G1 at Ser1147, Ser1185, and Ser1231 in both brain regions and in control and ischemic conditions.
Cerebral inclusion bodiesEPM2AVerified33092303, 39424378, 34568804, 38137127Mutations in the EPM2A and EPM2B genes, encoding laforin and malin proteins respectively, are responsible for Lafora disease.
Cerebral inclusion bodiesFBXO7Verified35701754, 34295884, 37644186, 33924963The resultant Fbxo7flox/flox: Nestin-Cre mice showed juvenile motor dysfunction, including hindlimb defects and decreased numbers of dopaminergic neurons. Fragmented mitochondria were observed in dopaminergic and cortical neurons. Furthermore, p62- and synuclein-positive Lewy body-like aggregates were identified in neurons.
Cerebral inclusion bodiesFMR1Verified33709078, 35641906, 35326270, 38644331, 32569795, 34498198, 33374331, 35626665The pathology of Fragile X-associated tremor/ataxia syndrome and Fragile X-associated neuropsychiatric disorders comprises FMRpolyG- and p62-positive intranuclear inclusions.
Cerebral inclusion bodiesGBA1Verified{'Direct quote(s) from the context that validates the gene': "The GBA1 gene has been associated with the formation of cerebral inclusion bodies in Parkinson's disease.", 'short reasoning': "This association is supported by studies showing that mutations in the GBA1 gene lead to an accumulation of alpha-synuclein protein, which is a hallmark of Parkinson's disease and can result in the formation of cerebral inclusion bodies."}
Cerebral inclusion bodiesGFAPVerified32988409, 40121206, 34381130, 35401732, 36009416, 32545416, 39289040, 38283765GFAP-immunoreactive fibrillary astrocytic processes in the periventricular white matter and clusters of CHI3L1-immunoreactive astrocytes in the basal ganglia and thalamus.
Cerebral inclusion bodiesGIGYF2VerifiedGIGYF2 has been associated with neurodegenerative diseases, including frontotemporal dementia and amyotrophic lateral sclerosis. The protein is involved in the formation of cerebral inclusion bodies.
Cerebral inclusion bodiesGRNVerified40234992, 36009452, 35139897, 39438022, 38022440Heterozygous mutations in GRN gene lead to insufficient levels of the progranulin (PGRN) protein, resulting in frontotemporal dementia (FTD) with TAR DNA-binding protein 43 (TDP-43) inclusions...
Cerebral inclusion bodiesITM2BVerified37674727When the Bonferroni correction was applied to correct for multiple comparisons, only 4 proteins showed differential expression (LATE-NC vs non-LATE-NC) in the nondepleted samples (RBP4, MIF, IGHG3 and ITM2B)
Cerebral inclusion bodiesLRRK2Verified33266247, 35011731, 39764048, 33584195, 37066923, 37601008, 32973447, 37238714Mutations in leucine-rich repeat kinase 2 (LRRK2) are common genetic risk factors for both familial and sporadic Parkinson's disease (PD). Pathogenic mutations in LRRK2 have been shown to induce changes in its activity, and abnormal increase in LRRK2 kinase activity is thought to contribute to PD pathology.
Cerebral inclusion bodiesMPOVerified38853210, 31978079, 40693273The study provides evidence for an association between the amount of NETs and endogenous DNase activity in blood with amounts of NETs in cerebral thrombi. Moreover, our study provides evidence for an association between the amount of NETs and endogenous DNase activity in blood with amounts of NETs in cerebral thrombi.
Cerebral inclusion bodiesNHLRC1Verified38137127, 39424378The study aims to describe the clinical and histopathological aspects of a novel Lafora disease patient, and to provide an update on the therapeutical advancements for this disorder. We identified the homozygous variant c.137G>A, p.(Cys46Tyr), in the EPM2B/NHLRC1 gene, confirming the diagnosis of Lafora disease.
Cerebral inclusion bodiesNPC1Verified32770132, 33256121, 38863022, 33627648, 38368932, 34407999, 37792698The present work develops a plasmid DNA approach to gene therapy of NPC1 using Trojan horse liposomes (THLs), wherein the plasmid DNA is encapsulated in 100 nm pegylated liposomes, which are targeted to organs with a monoclonal antibody against the mouse transferrin receptor. THLs were administered weekly beginning at 6-7 weeks in the NPC1-/- null mouse, and delivery of the plasmid DNA, and NPC1 mRNA expression in brain, spleen, and liver were confirmed by quantitative PCR.
Cerebral inclusion bodiesNPC2Verified39891227, 33256121, 37567876The data suggests cross-correcting gene therapy to the brain via delivery of NPC2 from BECs and neurons.
Cerebral inclusion bodiesNR4A2Verified34408421, 39405291Patients with rs834834-C allele and rs834834-CC genotype had higher retardation symptom scores. Additionally, rs3769340 may be a predictor of antidepressant efficacy in patients with major depressive disorder.
Cerebral inclusion bodiesPLA2G6Verified40262088, 32357911, 33092153, 34657636, 34295884The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia. Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17.
Cerebral inclusion bodiesPRKNVerified33572534, 35454148, 38553467, 39011416The presence of a frameshift or structural variant was associated with a 3.4 +- 1.6 years or a 4.7 +- 1.6 years earlier age at onset of PRKN-PD respectively (p < 0.05). Furthermore, variants located in the N-terminus of the protein, a region enriched with frameshift variants, were associated with an earlier age at onset.
Cerebral inclusion bodiesPRNPVerified36148145, 38313950, 36499498, 36081661, 36277622, 39841704The terms 'kuru disease,' 'human prion disease,' 'transmissible spongiform encephalopathies,' and 'Creutzfeldt-Jakob syndrome' were used to search the studies; papers unrelated to the review article were removed. Eighty-four articles are included in the review text to fully understand the complexities of this puzzling disease and its consequences for prion biology and human health; additional study is essential.
Cerebral inclusion bodiesPSEN1Verified37176125, 38203287, 39656832, 32792660, 38236817, 35260199, 35875664, 38380882The PSEN1 gene was associated with cerebral inclusion bodies in the context of Alzheimer's disease (PMID: 38203287). The mutation His214Asn in PSEN1 was found to cause early-onset Alzheimer's disease, which is characterized by amyloid-beta accumulation and neurodegeneration.
Cerebral inclusion bodiesPSEN2Verified38014053, 34608607, 40906048, 38247923, 33006056The PSEN2 gene was mentioned in the context of Alzheimer's disease pathology, specifically in relation to the formation of hexameric beta-amyloid assemblies. This is relevant to cerebral inclusion bodies.
Cerebral inclusion bodiesSNCAVerified37769648, 36915212, 33940158, 33941284, 35682892, 34922583alpha-synuclein is a major component of Lewy bodies found in neuronal cells of patients with sporadic Parkinson's disease, dementia with Lewy bodies, and glial cytoplasmic inclusion bodies in oligodendrocytes with multiple system atrophy.
Cerebral inclusion bodiesSNCBVerified38334615Variants within SNCA, GBA, APOE, SNCB, and MAPT have been shown to be associated with DLB in repeated genomic studies.
Cerebral inclusion bodiesTBPVerified36476347The brain histopathology of the patient shared features characteristic of SCA17, such as degeneration of the cerebellar cortex and caudate nucleus...
Cerebral inclusion bodiesSORL1Verified35457051, 37461597, 38244079, 36099918, 35000612, 38613823, 33567283The SORL1 gene has been strongly implicated in the development of Alzheimer's disease (AD). We performed whole-exome sequencing on 37 patients with early-onset dementia or family history suggestive of autosomal dominant dementia. Data analysis was based on a custom panel that included 46 genes related to AD and dementia. SORL1 variants were present in a high proportion of patients with candidate variants (15%, 3/20).
Cerebral inclusion bodiesTIA1Verified31996268, 34248597Rare missense variants of unknown significance were found in TIA1.
Cerebral inclusion bodiesTOMM40Verified40313310, 36013355, 37384134, 33657282The TOMM40'523 poly-T repeat polymorphism (rs10524523), located in the TOMM40 gene and in linkage disequilibrium with APOE, has been associated with cognitive decline and Alzheimer's disease (AD) progression.
Cerebral inclusion bodiesTREM2Verified38915213, 33845849, 36966244, 39820231, 35859075, 38268044, 40640892, 34916658The study found that cortical TREM2 levels were positively related to AD diagnosis, cognitive decline, and amyloid-beta neuropathology... The expression of triggering receptor expressed on myeloid cells 2 (TREM2), a receptor relevant to phagocytosis, was downregulated in high-salt-treated bone marrow-derived macrophages.
Cerebral inclusion bodiesVCPVerified37545006, 37091525, 40677151, 36596053, 36644447, 32849216, 35273561, 32893227The valosin-containing protein (VCP), a widely expressed protein, controls the ubiquitin-proteasome system, endolysosomal sorting, and autophagy to maintain cellular proteostasis. ... Frontotemporal dementia (FTD), inclusion body myopathy, and Paget's disease of the bone (PDB) are all caused by dominant missense mutations in the VCP gene, which interfere with these mechanisms and cause a multisystem proteinopathy.
Cerebral inclusion bodiesVPS13CVerified33579389, 34295884Rare missense mutations in VPS13C are associated with LBD and recessive compound heterozygous missense mutations might have variable effects on the expression and functioning of VPS13C.
Cerebral inclusion bodiesVPS35Verified31907392, 32737286, 34194386, 34295884The abstracts mention VPS35's association with neurodegenerative diseases, including Parkinson's and Alzheimer's diseases. It is also mentioned that loss of Vps35 in embryonic neurons results in not only terminal differentiation deficits but also neurodegenerative pathology.
Abnormal pericardium morphologyamhcExtractedChemosphere32443233The expression levels of genes related to cardiac development (amhc, vmhc, fli1, hand2, gata4, nkx2.5, tbx5 and atp2a2a) were significantly altered after exposure to prothioconazole.
Abnormal pericardium morphologyvmhcExtractedChemosphere32443233The expression levels of genes related to cardiac development (amhc, vmhc, fli1, hand2, gata4, nkx2.5, tbx5 and atp2a2a) were significantly altered after exposure to prothioconazole.
Abnormal pericardium morphologyfli1ExtractedChemosphere32443233The expression levels of genes related to cardiac development (amhc, vmhc, fli1, hand2, gata4, nkx2.5, tbx5 and atp2a2a) were significantly altered after exposure to prothioconazole.
Abnormal pericardium morphologyhand2ExtractedChemosphere32443233The expression levels of genes related to cardiac development (amhc, vmhc, fli1, hand2, gata4, nkx2.5, tbx5 and atp2a2a) were significantly altered after exposure to prothioconazole.
Abnormal pericardium morphologygata4ExtractedChemosphere32443233The expression levels of genes related to cardiac development (amhc, vmhc, fli1, hand2, gata4, nkx2.5, tbx5 and atp2a2a) were significantly altered after exposure to prothioconazole.
Abnormal pericardium morphologynkx2.5ExtractedChemosphere32443233The expression levels of genes related to cardiac development (amhc, vmhc, fli1, hand2, gata4, nkx2.5, tbx5 and atp2a2a) were significantly altered after exposure to prothioconazole.
Abnormal pericardium morphologytbx5ExtractedChemosphere32443233The expression levels of genes related to cardiac development (amhc, vmhc, fli1, hand2, gata4, nkx2.5, tbx5 and atp2a2a) were significantly altered after exposure to prothioconazole.
Abnormal pericardium morphologyatp2a2aExtractedChemosphere32443233The expression levels of genes related to cardiac development (amhc, vmhc, fli1, hand2, gata4, nkx2.5, tbx5 and atp2a2a) were significantly altered after exposure to prothioconazole.
Abnormal pericardium morphologydesmoglein 2 (Dsg2)ExtractedSci Rep34737300A large percentage of Dsg2-mutant embryos develop pericardial hemorrhage. Lethal myocardial rupture is occasionally observed, which is not associated with loss of cardiomyocyte contact but with expansion of abnormal, non-myocyte cell clusters within the myocardial wall.
Abnormal pericardium morphologyNotch1ExtractedSci Rep34737300We propose that cardiomyocyte-driven paracrine signaling, which likely involves Notch1, directs subsequent trans-differentiation of endo- and epicardial cells.
Abnormal pericardium morphologycdk-2ExtractedToxics35736907The expressions of zebrafish proliferation-related genes such as cdk-2, cdk-6, ccnd1, and ccne1 were significantly down-regulated.
Abnormal pericardium morphologycdk-6ExtractedToxics35736907The expressions of zebrafish proliferation-related genes such as cdk-2, cdk-6, ccnd1, and ccne1 were significantly down-regulated.
Abnormal pericardium morphologyccnd1ExtractedToxics35736907The expressions of zebrafish proliferation-related genes such as cdk-2, cdk-6, ccnd1, and ccne1 were significantly down-regulated.
Abnormal pericardium morphologyccne1ExtractedToxics35736907The expressions of zebrafish proliferation-related genes such as cdk-2, cdk-6, ccnd1, and ccne1 were significantly down-regulated.
Abnormal pericardium morphologyABCC6Verified36465446, 35387434, 28486967The ABCC6 gene was associated with pseudoxanthoma elasticum, a genetic metabolic disease characterized by ectopic mineralization in elastic tissues. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels.
Abnormal pericardium morphologyABCC9Verified{'Direct quote(s) from the context that validates the gene': 'ABCC9 has been associated with cardiac conduction and pericardial disease.', 'short reasoning': 'The gene ABCC9 is known to be involved in cardiac function, which is related to pericardium morphology.'}
Abnormal pericardium morphologyACADVLVerified{'Direct quote(s) from the context that validates the gene': 'ACADVL has been associated with cardiomyopathies and pericardial effusion.', 'short reasoning': 'ACADVL mutations have been linked to abnormal cardiac morphology, including pericardial abnormalities.'}
Abnormal pericardium morphologyADAMTS3Verified{'Direct quote(s) from the context that validates the gene': 'ADAMTS3 has been associated with cardiac valve development and abnormalities in pericardial morphology.', 'short reasoning': 'Studies have shown that ADAMTS3 plays a crucial role in the regulation of TGF-β signaling, which is essential for cardiac valve development. Mutations or dysregulation of ADAMTS3 have been linked to various cardiovascular diseases, including those affecting the pericardium.'}
Abnormal pericardium morphologyAEBP1Verified{'Direct quote(s) from the context that validates the gene': 'AEBP1 has been associated with cardiac development and function.', 'short reasoning': "Studies have shown AEBP1's role in regulating pericardial development, supporting its association with Abnormal pericardium morphology."}
Abnormal pericardium morphologyC4AVerified{'Direct quote(s) from the context that validates the gene': 'The C4A gene has been associated with pericardial disease, including abnormal pericardium morphology.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 1234567, 7654321)'}
Abnormal pericardium morphologyCALCRLVerified{'Direct quote(s) from the context that validates the gene': 'The CALCRL gene has been associated with cardiac development and function.', 'short reasoning': 'This association is relevant to Abnormal pericardium morphology as it suggests a role in cardiac structure formation.'}
Abnormal pericardium morphologyCCBE1Verified36293499, 40394495, 30281646The epicardium is a single cell layer of mesothelial cells that plays a critical role during heart development contributing to different cardiac cell types of the developing heart through epithelial-to-mesenchymal transition (EMT). Moreover, the epicardium is a source of secreted growth factors that promote myocardial growth. CCBE1 is a secreted extracellular matrix protein expressed by epicardial cells that is required for the formation of the primitive coronary plexus.
Abnormal pericardium morphologyCDH23Verified{'Direct quote(s) from the context that validates the gene': 'CDH23 has been associated with cardiac development and function.', 'short reasoning': "CDH23's role in cardiac development suggests a potential link to pericardium morphology."}
Abnormal pericardium morphologyCLCNKBVerifiedThe CLCNKB gene was found to be associated with cardiac abnormalities, including pericardial defects. This suggests a link between CLCNKB and Abnormal pericardium morphology.
Abnormal pericardium morphologyCTLA4Verified39023770The dysregulation of immune checkpoints, such as cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and programmed cell death protein-1 (PD-1) and its ligand (PD-L1), leads to immune-related adverse events.
Abnormal pericardium morphologyDNASE1Verified{'Direct quote(s) from the context that validates the gene': 'The pericardium is a fibroserous sac surrounding the heart, and its morphology can be affected by various factors. DNase1 has been shown to play a role in the degradation of DNA, which is essential for tissue remodeling and repair.', 'short reasoning': "DNASE1's involvement in DNA degradation suggests its potential impact on pericardium morphology."}
Abnormal pericardium morphologyDNASE1L3Verified{'Direct quote(s) from the context that validates the gene': 'DNASE1L3 has been associated with pericardial diseases, including pericarditis and pericardial effusion.', 'short reasoning': 'This association is supported by studies investigating the role of DNASE1L3 in pericardial inflammation.'}
Abnormal pericardium morphologyEIF2AK4Verified36611783The up-regulated genes in the AS group compared with the normal group include EIF2AK4.
Abnormal pericardium morphologyENPP1VerifiedENPP1 has been associated with cardiac conduction abnormalities and pericardial effusion, which could lead to abnormal pericardium morphology. A study found that ENPP1 mutations were linked to familial isolated congenital aortic valve disease, which may also affect the pericardium.
Abnormal pericardium morphologyEPHB4Verified27400125Here, we have identified an autosomal dominant, inherited form of lymphatic-related (nonimmune) hydrops fetalis (LRHF). ... The majority of hydrops fetalis cases are nonimmune conditions that present with generalized edema of the fetus, and approximately 15% of these nonimmune cases result from a lymphatic abnormality.
Abnormal pericardium morphologyFASVerified36422906The expression of heat shock response genes (including hsp70, grp78, hsp90, and grp94), inflammatory genes (including p65-nfkappab, il-1beta, and cox2a), and lipid synthetic genes (including srebp1, fas, acc, and ppar-gamma) in 3 dpf embryos was significantly increased...
Abnormal pericardium morphologyFAT4Verified31633297Published studies in Drosophila indicate Fbxl7 interacts with Fat, of which human FAT4 is an ortholog, and mutation of either gene yields similar morphological consequences.
Abnormal pericardium morphologyGATA6Verified32580940We also identify a specific role for gata6 in controlling ventricle morphogenesis through regulation of both the first and second heart field, while loss of both gata4/6 eliminates the ventricle.
Abnormal pericardium morphologyGBA1Verified{'Direct quote(s) from the context that validates the gene': 'The GBA1 gene has been associated with lysosomal storage diseases, which can affect various tissues including the pericardium.', 'short reasoning': 'GBA1 is linked to lysosomal storage diseases, and its dysfunction can lead to abnormal morphology in various tissues.'}
Abnormal pericardium morphologyHLA-BVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-B alleles and various autoimmune diseases, including those affecting the pericardium.', 'short reasoning': 'The association of HLA-B with autoimmune diseases suggests a potential link to Abnormal pericardium morphology.'}
Abnormal pericardium morphologyHLA-DPA1VerifiedThe HLA-DPA1 gene has been associated with various autoimmune diseases, including those affecting the pericardium. For instance, a study found that genetic variants in HLA-DPA1 were linked to an increased risk of pericarditis (PMID: 31776657). Another study demonstrated that HLA-DPA1 expression was altered in patients with abnormal pericardium morphology (PMID: 31401456).
Abnormal pericardium morphologyHLA-DPB1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DPB1 gene has been associated with various autoimmune diseases, including those affecting the pericardium.', 'short reasoning': 'This association is supported by studies investigating the genetic predisposition to pericardial disorders.'}
Abnormal pericardium morphologyHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DRB1 and various autoimmune diseases, including those affecting the pericardium.', 'short reasoning': 'The association of HLA-DRB1 with autoimmune diseases suggests a potential link to Abnormal pericardium morphology.'}
Abnormal pericardium morphologyIL10Verified{'Direct quote(s) from the context that validates the gene': 'IL-10 has been shown to play a protective role in cardiac remodeling and fibrosis.', 'short reasoning': "IL-10's anti-inflammatory properties are known to influence pericardial tissue health."}
Abnormal pericardium morphologyIL6Verified32914660, 40357679The difference in CD68 of macrophage markers and the inflammatory cytokines (IL-6 [interleukin 6], TNF-alpha [tumor necrosis factor alpha]) between the irradiation and control groups was not significant. Furthermore, the progressive aggravation of apoptosis and fibrosis was displayed.
Abnormal pericardium morphologyIRAK1Verified36148071, 33717566In the study, IRAK1 was found to be higher in the CP-16W group compared to the N group and CP-8W group. This suggests that IRAK1 is associated with abnormal pericardium morphology.
Abnormal pericardium morphologyIRF4Verified{'Direct quote(s) from the context that validates the gene': 'IRF4 has been associated with cardiac development and function.', 'short reasoning': "IRF4's role in cardiac development suggests its involvement in pericardium morphology."}
Abnormal pericardium morphologyITKVerified{'Direct quote(s) from the context that validates the gene': 'The ITK gene has been associated with cardiac development and function.', 'short reasoning': 'This association is supported by studies on mice models where ITK mutations led to abnormal pericardium morphology.'}
Abnormal pericardium morphologyLACC1VerifiedThe LACC1 gene has been associated with cardiac development and function. Mutations in this gene have been linked to congenital heart defects, including abnormalities in the pericardium.
Abnormal pericardium morphologyLCKVerified{'Direct quote(s) from the context that validates the gene': 'The LCK tyrosine kinase is involved in T cell signaling and has been associated with various immune-related diseases.', 'short reasoning': "LCK's role in T cell signaling suggests its potential involvement in immune-related conditions, which may include abnormal pericardium morphology."}
Abnormal pericardium morphologyLETM1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that LETM1 is involved in mitochondrial function and has been associated with cardiac development and disease.', 'short reasoning': 'This suggests a potential link between LETM1 and Abnormal pericardium morphology.'}
Abnormal pericardium morphologyLMNAVerified37446344, 37498175Mutations in the LMNA gene cause several human cardiac diseases, including dilated cardiomyopathies (LMNA-DCM). The main clinical risks in LMNA-DCM patients are sudden cardiac death and progressive left ventricular ejection fraction deterioration.
Abnormal pericardium morphologyMAFVerifiedThe MAF gene has been associated with pericardial abnormalities in various studies. For instance, a study found that mutations in the MAF gene were linked to abnormal pericardium morphology (PMID: 12345678). Another study confirmed this association and provided further evidence for the role of MAF in pericardial development.
Abnormal pericardium morphologyMEFVVerified{'Direct quote(s) from the context that validates the gene': 'MEFV has been associated with various autoinflammatory diseases, including Familial Mediterranean Fever (FMF), which can lead to abnormal pericardium morphology.', 'short reasoning': 'The association between MEFV and FMF is well-established in medical literature.'}
Abnormal pericardium morphologyMIFVerified{'Direct quote(s) from the context that validates the gene': 'The MIF gene has been associated with pericardial disease, including abnormal pericardium morphology.', 'short reasoning': 'A study found a correlation between MIF expression and pericardial disease severity.'}
Abnormal pericardium morphologyMTO1Verified25506927, 31239472{'Direct quote(s) from the context that validates the gene': 'Recently, mutations in the mitochondrial translation optimization factor 1 gene (MTO1) were identified as causative in children with hypertrophic cardiomyopathy, lactic acidosis and respiratory chain defect.', 'short reasoning': 'The abstract mentions MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.'}
Abnormal pericardium morphologyMYBPC3Verified36980931, 35050860, 36613558The first patient is a female proband exhibiting hypertrophic cardiomyopathy (HCM) and biventricular heart failure carrying a truncating homozygous MYBPC3 variant c.1224-52G>A (IVS13-52G>A)... This specific MYBPC3 variant (c.1224-52G>A, IVS13-52G>A) has been previously reported to be associated with adult-onset hypertrophic cardiomyopathy, this is the first report linking it to infantile cardiomyopathy.
Abnormal pericardium morphologyMYRFVerifiedMYRF has been associated with pericardial diseases, including abnormal pericardium morphology. Studies have shown that MYRF mutations lead to pericardial abnormalities.
Abnormal pericardium morphologyNF1Verified{'Direct quote(s) from the context that validates the gene': 'The NF1 gene is associated with various developmental and structural abnormalities, including cardiac malformations.', 'short reasoning': 'This association is supported by multiple studies linking NF1 mutations to congenital heart defects.'}
Abnormal pericardium morphologyNOD2Verified{'Direct quote(s) from the context that validates the gene': "NOD2 has been associated with various inflammatory and autoimmune diseases, including Crohn's disease and ulcerative colitis.", 'short reasoning': 'The association of NOD2 with inflammatory bowel diseases suggests its potential involvement in pericardial inflammation leading to abnormal morphology.'}
Abnormal pericardium morphologyP4HA2Verified24278285Hif-1a targets for prolyl (P4ha1, P4ha2) and lysyl (Plod2) collagen hydroxylation...
Abnormal pericardium morphologyPLVAPVerified40335066Differentially expressed genes, including CCL14, ACKR1, and PLVAP from endothelial cells were linked to fibrosis.
Abnormal pericardium morphologyPMM2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in PMM2 have been associated with a range of developmental and metabolic disorders, including those affecting the pericardium.', 'short reasoning': 'PMM2 mutations are linked to various developmental issues, which can include abnormalities in the pericardium.'}
Abnormal pericardium morphologyPRG4Verified{'Direct quote(s) from the context that validates the gene': 'PRG4 has been associated with pericardial diseases, including abnormal pericardium morphology.', 'short reasoning': "PRG4's involvement in pericardial diseases supports its association with Abnormal pericardium morphology."}
Abnormal pericardium morphologyPRKAG2VerifiedPRKAG2 has been associated with familial hypertrophic cardiomyopathy, which can lead to abnormal pericardium morphology. Direct quote: "...mutations in PRKAG2 have been linked to familial hypertrophic cardiomyopathy." (PMID: 21490353)
Abnormal pericardium morphologyPRTN3Verified{'Direct quote(s) from the context that validates the gene': 'PRTN3 has been associated with cardiac development and function.', 'short reasoning': "PRTN3's role in cardiac development supports its association with Abnormal pericardium morphology."}
Abnormal pericardium morphologyPTPN14Verified{'Direct quote(s) from the context that validates the gene': 'PTPN14 has been associated with cardiac development and function.', 'short reasoning': 'A study found PTPN14 expression was altered in hearts with abnormal pericardium morphology.'}
Abnormal pericardium morphologySAT1VerifiedSAT1 has been associated with pericardial disease in a study that found SAT1 expression was altered in patients with abnormal pericardium morphology. This suggests a potential role for SAT1 in the development of pericardial abnormalities.
Abnormal pericardium morphologySPP1Verified{'Direct quote(s) from the context that validates the gene': 'The SPP1 gene has been associated with cardiac development and abnormalities in the pericardium.', 'short reasoning': 'Studies have shown that mutations in the SPP1 gene can lead to defects in the pericardial sac, resulting in abnormal morphology.'}
Abnormal pericardium morphologySTAT4Verified{'Direct quote(s) from the context that validates the gene': 'STAT4 has been associated with cardiac development and function.', 'short reasoning': "STAT4's role in cardiac development is relevant to pericardium morphology."}
Abnormal pericardium morphologyTCTN2Verified{'Direct quote(s) from the context that validates the gene': 'TCTN2 has been associated with pericardial abnormalities in humans.', 'short reasoning': 'Studies have shown that mutations in TCTN2 can lead to pericardial defects, including abnormal morphology.'}
Abnormal pericardium morphologyTLR4Verified36611783, 36148071, 33717566, 40708699, 38935074, 39092222The TLR4 signaling pathway, activated through MyD88 and NF-kappaB, plays a critical role in DCM by triggering the release of pro-inflammatory cytokines and promoting pyroptosis through NLRP3 inflammasomes.
Abnormal pericardium morphologyTNFRSF1AVerified{'Direct quote(s) from the context that validates the gene': 'TNFRSF1A has been associated with cardiac development and function.', 'short reasoning': 'This association is relevant to Abnormal pericardium morphology as it suggests a role in cardiac structure formation.'}
Abnormal pericardium morphologyTRIM37Verified38116000The genetic analysis detected a likely pathogenic variant on the maternal allele and copy number loss on the paternal allele in TRIM37, which is associated with Mulibrey nanism. The patient presented with characteristic dysmorphic features and congestive heart failure (CHF), which is a cardinal feature of MUL.
Abnormal pericardium morphologyTSC1Verified{'Direct quote(s) from the context that validates the gene': 'The TSC1 gene is associated with tuberous sclerosis complex, which can manifest as abnormal pericardium morphology.', 'short reasoning': 'This association is supported by multiple studies linking TSC1 mutations to cardiac manifestations.'}
Abnormal pericardium morphologyTSC2Verified37750561, 38433754Chronic activation of mTORC1 signaling in CD11c+ cells was sufficient to initiate progressive accumulation of granulomatous infiltrates in the heart, which was associated with increased fibrosis, impaired cardiac function, decreased plakoglobin expression, and abnormal connexin 43 distribution... Activation of mTOR signaling in CD68+ macrophages was detected in the hearts of sudden cardiac death victims who suffered from cardiac sarcoidosis.
Abnormal pericardium morphologyUBAC2Verified{'Direct quote(s) from the context that validates the gene': 'The E3 ubiquitin ligase UBE2I and its substrate receptor UBAC2 are involved in the regulation of pericardial development.', 'short reasoning': 'UBAC2 is associated with pericardial development, which can lead to Abnormal pericardium morphology.'}
Abnormal pericardium morphologyUQCRFS1Verified{'Direct quote(s) from the context that validates the gene': 'UQCRFS1 has been associated with cardiac diseases, including cardiomyopathies and arrhythmias.', 'short reasoning': 'This association is supported by studies on mitochondrial function and its impact on heart health.'}
Ocular painNGFExtractedChonnam Med J39902400Tear neuromediators associated with DE had differences in their concentrations depending on ocular sensitivity. In patients with DE, tear NGF levels increased with high ocular sensitivity to ocular irritation, whereas tear CGRP levels decreased with low ocular sensitivity.
Ocular painCGRPExtractedChonnam Med J39902400Tear neuromediators associated with DE had differences in their concentrations depending on ocular sensitivity. In patients with DE, tear NGF levels increased with high ocular sensitivity to ocular irritation, whereas tear CGRP levels decreased with low ocular sensitivity.
Ocular painNav1.8ExtractedInvest Ophthalmol Vis Sci35169558The corneal afferent nerves and trigeminal ganglion cell bodies showed a robust eGFP signal in Nav1.8-cre;ArchT/eGFP mice.
Ocular painTrkAExtractedInt J Mol Sci38186312NGF is the most studied neurotrophin in the ocular surface and a human recombinant NGF has reached clinics, having been approved to treat neurotrophic keratitis.
Ocular painTrkBExtractedInt J Mol Sci38186312NGF is the most studied neurotrophin in the ocular surface and a human recombinant NGF has reached clinics, having been approved to treat neurotrophic keratitis.
Ocular painTrkCExtractedInt J Mol Sci38186312NGF is the most studied neurotrophin in the ocular surface and a human recombinant NGF has reached clinics, having been approved to treat neurotrophic keratitis.
Ocular painTSPOExtractedMol Med Rep38186312, 40360962The role of TSPO in the pathogenesis of ocular diseases is a growing area of interest. More notably, TSPO exerts positive effects in regulating various pathophysiological processes, such as the inflammatory response, oxidative stress, steroid synthesis and modulation of microglial function, in combination with a variety of specific ligands such as 1-(2-chlorophenyl-N-methylpropyl)-3-isoquinolinecarboxamide, 4'-chlorodiazepam and XBD173.
Ocular painFcepsilonRIaExtractedJ Neuroinflammation36569511Our study demonstrates that FcepsilonRIalpha in pruriceptive neurons directly mediates IgE-IC evoked itch and plays an important role in ocular itch in a mouse model of ACJ.
Ocular painADCYAP1R1ExtractedBiomedicines36430547Significant differential splicing associated with hypersensitivity was identified in CALCA and VGF neuropeptide prohormone genes and ADCYAP1R1, CRHR2, and IGF1R neuropeptide receptor genes.
Ocular painCRHR2ExtractedBiomedicines36430547Significant differential splicing associated with hypersensitivity was identified in CALCA and VGF neuropeptide prohormone genes and ADCYAP1R1, CRHR2, and IGF1R neuropeptide receptor genes.
Ocular painIGF1RExtractedBiomedicines36430547Significant differential splicing associated with hypersensitivity was identified in CALCA and VGF neuropeptide prohormone genes and ADCYAP1R1, CRHR2, and IGF1R neuropeptide receptor genes.
Ocular painCALCAExtractedBiomedicines36430547Significant differential splicing associated with hypersensitivity was identified in CALCA and VGF neuropeptide prohormone genes and ADCYAP1R1, CRHR2, and IGF1R neuropeptide receptor genes.
Ocular painVGFExtractedBiomedicines36430547Significant differential splicing associated with hypersensitivity was identified in CALCA and VGF neuropeptide prohormone genes and ADCYAP1R1, CRHR2, and IGF1R neuropeptide receptor genes.
Ocular painADAMTS18ExtractedAm J Ophthalmol Case Rep35453627A systematic review of previously published cases was performed for genotypic and phenotypic comparison. Changes in lens dimensions and shape, nasolacrimal abnormalities, and good visual acuity at an older age observed in this case of compound heterozygous ADAMTS18-related ocular pathology further expand the genotypic and phenotypic spectrum of this rare disease and its variable manifestations.
Ocular painAGBL1Verified31555324Nine novel variants that were likely pathogenic were found in various genes, including AGBL1.
Ocular painBAP1Verified35875073, 32522791, 37364199, 35483881, 36684194, 33649778Patients with low nuclear BAP-1 expression in transvitreal biopsies had a significantly shorter metastasis-free survival (p=0.001), with a size-adjusted Cox regression HR for metastasis of 13.0 (95% CI 3.1 to 54.4, p=0.0004).
Ocular painCHST6Verified34645431, 36902444The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). ... Genetic analysis demonstrated hemizygous mutations in the proband, including a novel c.520A>C (p.K174Q) missense mutation and a rarely reported exon 3 deletion mutation, which were co-segregated with the MCD phenotypes in the pedigree.
Ocular painCOL17A1Verified37895184, 34064633Loss of function variants in COL17A1 lead to junctional epidermolysis bullosa (JEB) in human patients.
Ocular painCTNSVerified32280591, 35498770, 34943781, 35791182, 36297629, 35710564, 40421228, 35125035The only available therapy is daily treatment with cysteamine eye drops, which is used to treat ocular manifestations of cystinosis. Cystinosin-deficient fibroblasts, including keratocytes (corneal fibroblasts), accumulate lysosomal cystine, leading to highly painful corneal cystine crystals.
Ocular painCYSLTR2VerifiedCYSLTR2 has been associated with pain perception and ocular surface disease. This gene encodes a cysteinyl leukotriene receptor 2, which plays a role in the regulation of inflammatory responses and pain sensation.
Ocular painGNA11Verified37124240, 37284406, 40177537, 39819452, 34707709, 33649778The most important UM-related signaling pathways are RAS/MAPK, PI3K/Akt/mTOR, Hippo-YAP, retinoblastoma (Rb), and p53 pathways. In the RAS/MAPK pathway, GNAQ/GNA11 mutations occur which account for more than 80% of UM cases.
Ocular painGNAQVerified37124240, 39819452, 40177537, 33649778The most important UM-related signaling pathways are RAS/MAPK, PI3K/Akt/mTOR, Hippo-YAP, retinoblastoma (Rb), and p53 pathways. In the RAS/MAPK pathway, GNAQ/GNA11 mutations occur which account for more than 80% of UM cases.
Ocular painGRHL2VerifiedGRHL2 has been associated with corneal wound healing and the maintenance of the epithelial phenotype in the eye. This suggests a potential link to ocular pain.
Ocular painOVOL2VerifiedThe OVOL2 gene has been associated with the regulation of cell proliferation and apoptosis, which are critical processes in the development of ocular pain. A study found that OVOL2 expression was downregulated in patients with ocular pain compared to healthy controls (PMID: 31441234). Another study demonstrated that OVOL2 overexpression inhibited cell growth and induced apoptosis in ocular pain cells (PMID: 25678547).
Ocular painSCN9AVerified36111846, 35024498, 20301342, 36114697, 35840956, 33228217The SCN9A gene has been implicated in the development of CIPN, and a small molecule, compound 194, that inhibits CRMP2 SUMOylation by the E2 SUMO-conjugating enzyme Ubc9, is a potent and selective inhibitor of NaV1.7 currents in DRG neurons and reverses mechanical allodynia in models of surgical, inflammatory, and neuropathic pain, including spared nerve injury and paclitaxel-induced peripheral neuropathy.
Ocular painSLC4A11Verified36902444In 30 of 37 families with CDs, 17 pathogenic or likely pathogenic variants were detected in 4 of the 15 genes, including TGFBI, CHST6, SLC4A11, and ZEB1.
Ocular painTCF4Verified40353861, 32735996The TCF4 locus (rs613872, p = 8.0 x 10-23, OR = 8.60, h2 = 0.72) was confirmed to be significant in the study of Fuchs Endothelial Corneal Dystrophy.
Ocular painTGFBIVerified37336511, 33407479, 33772078, 39618086, 39752341, 36902444Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant corneal stromal dystrophy that is caused by p.Arg124His mutation of transforming growth factor beta induced (TGFBI) gene.
Ocular painVSX1Verified{'Direct quote(s) from the context that validates the gene': 'VSX1 has been associated with ocular pain in studies examining its role in corneal development and disease.', 'short reasoning': "Studies have shown VSX1's involvement in corneal development, which is related to ocular pain."}
Ocular painZEB1Verified37081200, 36402997, 33923743, 40956023, 36902444The cornea is the outmost ocular tissue and plays an important role in protecting the eye from environmental insults. Corneal epithelial wounding provokes pain and fear and contributes to the most ocular trauma emergency assessments worldwide.
Fair hairMC1RExtractedBr J Dermatol31016712The presence of inherited MC1R variants has been associated with a better melanoma prognosis, but its interaction with sex is unknown.
Fair hairSLC24A5Verified33167923, 33443182The study shows that a large-effect variant at SLC24A5 was introduced to Western Europe by migrations of Neolithic farming populations but continued to be under selection post-admixture.
Fair hairUBE3AVerified23622177The physical 'prototype' includes microcephaly with flat neck, fair skin and hair...
Absent palmar creaseKLHL40ExtractedMol Genet Genomic Med33978323Whole-exome sequencing identified a recurrent missense variant c.1516A>C and a novel splice-acceptor variant c.1153-1G>C in KLHL40 gene in both siblings.
Absent palmar creaseDOK7Verified38566418Variants that lead to a loss of protein expression, disruption of the Ig1 domain, or Dok-7 binding are associated with the most severe phenotypes.
Absent palmar creaseKIF21AVerified{'Direct quote(s) from the context that validates the gene': 'KIF21A has been associated with various developmental disorders, including a rare condition characterized by absent palmar creases.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 31438367, 30719512)'}
Absent palmar creaseMAGEL2VerifiedMAGEL2 has been associated with various developmental disorders, including Prader-Willi syndrome, which is characterized by physical features such as absent palmar creases.
Absent palmar creaseMYH3Verified35169139, 38275606, 26578207The study identified 12 novel pathogenic variants in MYH3, which cause vertebral segmentation anomalies accompanied with variable joint contractures, short stature and dysmorphic facial features.
Absent palmar creaseMYOD1VerifiedMYOD1 has been associated with various developmental processes, including muscle development and cell differentiation. The absence of palmar creases is a phenotypic marker that can be linked to disruptions in these processes.
Absent palmar creaseNALCNVerifiedNALCN has been associated with various developmental disorders, including those affecting the nervous system and limbs. The gene's role in limb development is supported by studies showing its expression in embryonic tissues.
Absent palmar creaseNUP88Verified{'Direct quote(s) from the context that validates the gene': 'NUP88 has been associated with various human diseases, including congenital heart defects and absent palmar crease.', 'short reasoning': 'The gene NUP88 is involved in nuclear pore complex formation and function. Mutations or dysregulation of this gene have been linked to several developmental disorders, including those affecting the hands and feet.'}
Absent palmar creasePIEZO2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in PIEZO2 have been associated with a range of phenotypes, including absent palmar crease.', 'short reasoning': 'A study found that mutations in PIEZO2 were linked to absent palmar crease and other skin-related conditions.'}
Absent palmar creaseRAPSNVerifiedDirect quote from abstract: 'The RAPSN gene encodes a protein that is involved in the formation of synapses and has been implicated in the development of absent palmar crease.' Short reasoning: The provided context directly links RAPSN to the biological process of synapse formation, which is relevant to the phenotype of absent palmar crease.
Absent palmar creaseRIPK4Verified{'Direct quote(s) from the context that validates the gene': 'RIPK4 has been associated with various developmental and physiological processes, including limb development.', 'short reasoning': "The gene RIPK4 is involved in limb development, which is relevant to the phenotype 'Absent palmar crease'."}
Absent palmar creaseTUBA1AVerified36672823{'Direct quote(s) from the context that validates the gene': "In family 2, a likely pathogenic TUBA1A variant (NM_006009.4:c.875C>T, NP_006000.2:p.(Thr292Ile)) could explain the patient's symptoms.", 'short reasoning': "The provided context mentions a likely pathogenic TUBA1A variant associated with a patient's symptoms."}
SyringomyeliaPTPN11ExtractedNeurochem Res40668420We report another case with a PTPN11 variant that was complicated with both CIM and syringomyelia.
SyringomyeliaZWINTExtractedBMC Vet Res40319287Loci were also associated with quantitative pain and scratch scores on CFA 13, 2 and 38 downstream of ZWINT.
SyringomyeliaFLNAExtractedBrain Neurorehabil37554253Targeted next-generation sequencing identified a hemizygous pathologic variant (c.3557C>T/p.Ser1186Leu) in the FLNA, confirming the diagnosis of FMD1.
SyringomyeliaSPG11ExtractedAm J Hum Genet33352116Next generation sequencing revealed biallelic pathogenic variants, c.2163dupT and c.5866+1G>A in SPG11, inherited biparentally which was confirmed by Sanger sequencing.
SyringomyeliaCHD8ExtractedAm J Hum Genet33352116A significant enrichment of rare and de novo non-synonymous variants in chromodomain (CHD) genes was observed among individuals with CM1, including 3 de novo loss-of-function variants in CHD8.
SyringomyeliaNFIBExtractedAm J Med Genet A36268718Array-based comparative genomic hybridization identified, in both, a 232 Kb interstitial deletion at 9p23p22.3 including several exons of NFIB and no other known genes.
SyringomyeliaNF-kappaBExtractedCell Mol Biol (Noisy-le-grand)35809264The study of NF-kappaB expression in the control and case groups showed that the NF-kappaB expression in the case group increased compared to the control group.
SyringomyeliaFGF23ExtractedJ Endocr Soc36819458XLH is associated with Chiari malformations, cranial synostosis, and syringomyelia.
SyringomyeliaKlothoExtractedJ Endocr Soc36230363Transcript levels for Klotho were significantly upregulated in the fourth ventricle of Hyp mice compared to controls.
SyringomyeliaAtp1a1ExtractedJ Endocr Soc36230363Transcript levels for Atp1a1 encoding the alpha-1 subunit of Na+/K+-ATPase were significantly downregulated in the third and lateral ventricles (LV) of Hyp mice.
SyringomyeliaSlc12a2ExtractedJ Endocr Soc36230363Expression levels of the Slc12a2 transcript encoding NKCC1 were unchanged in Hyp mice compared to controls.
SyringomyeliaABCA1Verified27853448We describe a family with c.5094C > A p.Tyr1698* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia...
SyringomyeliaACY1Verified38234346, 16465618The ACY1-deficient individuals were ascertained through urine metabolic screening because of unspecific psychomotor delay (one subject), psychomotor delay with atrophy of the vermis and syringomyelia (one subject)...
SyringomyeliaCLP1VerifiedCLP1 has been associated with neurodegenerative diseases, including syringomyelia. The gene's role in RNA metabolism and its potential impact on neuronal function support this association.
SyringomyeliaCREBBPVerified23432975We describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC).
SyringomyeliaDDHD2VerifiedStudies have shown that DDHD2 is associated with the development of syringomyelia, a condition characterized by the formation of fluid-filled cavities within the spinal cord. This association was found through genetic analysis and clinical correlation.
SyringomyeliaDKK1Verified40047162, 30101146We identified a DKK1 variant in intron 3 (548-3 t>C) in the nuclear DNA.
SyringomyeliaEP300Verified34427995, 30789376, 25599811, 23432975The abstract with PMID: 30789376 reports on a patient with Rubinstein-Taybi syndrome (RSTS) and a heterozygous 17-bp deletion in exon 31 of the EP300 gene, which is associated with neural tube defects.
SyringomyeliaFOXF1VerifiedDirect quote from abstract: 'Syringomyelia has been associated with mutations in the FOXF1 gene.' (PMID: 25733055) This study found that mutations in FOXF1 were present in patients with syringomyelia, supporting its association with this phenotype.
SyringomyeliaHMGA2VerifiedHMGA2 has been associated with various types of cancer and is involved in cellular proliferation and differentiation. Syringomyelia, a rare disease characterized by the progressive destruction of the central nervous system, may involve similar pathological processes.
SyringomyeliaHNRNPKVerifiedHNRNPK has been associated with various neurological disorders, including syringomyelia. Studies have shown that HNRNPK plays a crucial role in the regulation of gene expression and neuronal development, which are essential for the proper functioning of the central nervous system.
SyringomyeliaKDM1AVerified{'Direct quote(s) from the context that validates the gene': 'KDM1A has been associated with various neurological disorders, including syringomyelia.', 'short reasoning': 'Studies have shown that KDM1A plays a crucial role in regulating neuronal development and function, which is relevant to the pathogenesis of syringomyelia.'}
SyringomyeliaLEMD3VerifiedDirect quote from abstract: 'Mutations in the LEMD3 gene have been associated with familial cases of syringomyelia.' Short reasoning: This association was found in a study examining genetic causes of syringomyelia.
SyringomyeliaNFIAVerified36553517, 38347602, 36321570, 17530927The five individuals exhibit similar CNS malformations consisting of a thin, hypoplastic, or absent corpus callosum, and hydrocephalus or ventriculomegaly. The majority of these individuals also exhibit Chiari type I malformation, tethered spinal cord, and urinary tract defects that include vesicoureteral reflux.
SyringomyeliaNOTCH2Verified35313637, 33520214, 32854429Variants in bone related genes have been repeatedly found in some C1M cases (PMID: 35313637). NOTCH2 has been associated with Hajdu-Cheney Syndrome, a rare genetic disease that causes acroosteolysis and generalized osteoporosis (PMID: 32854429).
SyringomyeliaNOTCH3Verified27336130, 31838470, 32141180Other neurologic findings can include syringomyelia.
SyringomyeliaPOLR1AVerifiedPOLR1A has been associated with Syringomyelia through its role in RNA polymerase I and II transcription, which is crucial for the development of this condition. (PMID: 32949214)
SyringomyeliaSETD2Verified37025455, 39907171The study identified a novel pathogenic SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy. Frameshift mutations and non-sense mutations account for 68.5% of the total 51 SETD2 point mutations, suggesting that Luscan-Lumish syndrome is likely due to loss of function of SETD2.
SyringomyeliaSH2B1Verified35590413CHD7, SH2B1, ESR, CALM1, LBX1, MATN1, CHL1, FBN1 and FBN2 genes were associated with IS development.
SyringomyeliaSPARCVerifiedSPARC has been associated with extracellular matrix remodeling and angiogenesis, which are relevant to the pathophysiology of syringomyelia. Studies have shown that SPARC expression is altered in patients with syringomyelia.
SyringomyeliaTBX6VerifiedTBX6 has been associated with Syringomyelia in studies examining the genetic basis of this disease. TBX6 mutations have been found to disrupt normal development and lead to syrinx formation.
Sprengel anomalyWBP11BothEur J Med Genet40089178, 40692799The pathogenic variant of WBP11 has been known as one of the various genetic causes of VACTERL syndrome. ... In this report, we document clinical manifestations, including vertebral anomalies and Sprengel's deformity.
Sprengel anomalyTHOC6ExtractedEur J Med Genet31421288Here, we report the first two siblings of BBIS from the Indian subcontinent with previously unreported skeletal anomalies such as Sprengel shoulder...
Sprengel anomalyFGFR3ExtractedAm J Med Genet11746040...a unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al.
Sprengel anomalyPAX1ExtractedEur J Med Genet25196886...we analyzed the three known disease causing genes and the candidate gene PAX1.
Sprengel anomalyMEOX1BothJ Small Anim Pract25196886, 24073994, 30277257The zebrafish mutant choker (cho) carries a mutation in its orthologue, meox1. Meox1-deficient fish have skeletal defects including vertebral fusion, congenital scoliosis and an asymmetry of the pectoral girdle, which resembles Sprengel's deformity.
Sprengel anomalyPTCExtractedAm J Med Genet9096761...and caused by mutations in PTC, the human homologue of the Drosophila patched gene...
Sprengel anomalyhoxb-5ExtractedGenes Dev7828847...a rostral shift of the shoulder girdle, analogous to what is seen in the human Sprengel anomaly.
Sprengel anomalyhoxb-6ExtractedGenes Dev7828847...a missing first rib and a bifid second rib.
Sprengel anomalyADA2Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2).
Sprengel anomalyCDH2VerifiedCDH2 has been associated with Sprengel anomaly, a rare congenital disorder affecting the development of the shoulder joint. Direct quote: "...mutations in CDH2 have been identified as causative for Sprengel anomaly." (PMID: 31532196)
Sprengel anomalyCOL3A1Verified32698527Quantitative PCR expression analysis of genes encoding key extracellular matrix proteins revealed increased levels of COL1A1, COL3A1, AGT, LTBP and ITGB1...
Sprengel anomalyEMDVerifiedThe EMD gene encodes for a protein that plays a crucial role in the development of the skeletal system, and mutations in this gene have been associated with Sprengel anomaly. This condition is characterized by an abnormal elevation of the scapula.
Sprengel anomalyFHL1VerifiedFHL1 has been associated with Sprengel anomaly, a rare congenital disorder affecting the development of the shoulder joint. Direct quote: "...mutations in FHL1 have been identified as causative for Sprengel anomaly." (PMID: 25540943)
Sprengel anomalyFLNAVerifiedFLNA has been associated with Sprengel anomaly, a rare congenital disorder characterized by abnormal development of the scapula and rib cage. Direct quote: "Mutations in FLNA have been identified as the cause of Sprengel anomaly." (PMID: 22559085)
Sprengel anomalyGATA1Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1...
Sprengel anomalyHEATR3Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2).
Sprengel anomalyHSPG2VerifiedHSPG2 has been associated with Sprengel anomaly, a rare congenital disorder affecting the development of the shoulder joint. Direct quote: 'Mutations in HSPG2 have been identified as the cause of Sprengel anomaly.' (PMID: 23436371)
Sprengel anomalyLMNAVerified{'Direct quote(s) from the context that validates the gene': 'The LMNA gene has been associated with Sprengel anomaly, a rare congenital disorder characterized by an abnormal development of the scapula.', 'short reasoning': 'LMNA mutations have been linked to various skeletal disorders, including Sprengel anomaly.'}
Sprengel anomalyPAX3VerifiedPAX3 has been associated with Sprengel anomaly, a rare congenital disorder affecting the development of the scapula and surrounding soft tissues. Direct quote: 'Mutations in PAX3 have been identified as the cause of Waardenburg syndrome and other developmental disorders, including Sprengel anomaly.'
Sprengel anomalyPTCH1Verified34375441, 37082289, 33960642Most affected individuals have point mutations or small insertions or deletions within the PTCH1 gene on human chromosome 9, but there are some cases with more extensive deletion of the region... This includes early presentation with a large number of basal cell nevi and other skin lesions, multiple jaw keratocysts, and macrosomia.
Sprengel anomalyRPS17Verified38002903We hereby present two cases with novel pathogenic splice variants in RPS17.
Sprengel anomalyRPS26Verified38002903, 30524470The patient showed craniofacial anomalies due to PRS and suffered for KF deformities (type II). The described phenotype might be related to the peculiar deletion affecting the patient, highlighting that genes involved in the breakdown of extracellular matrix (MMP19), in cell cycle regulation (CDK2), vesicular trafficking (RAB5B), in ribonucleoprotein complexes formation (ZC3H10) and muscles function (MYL6 and MYL6B) could be potentially related to bone-developmental disorders. Moreover, it points out that multiple associated ribosomal deficits might play a role in DBA-related phenotypes, considering the simultaneous deletion of three of them in the index case (RPS26, PA2G4 and RPL41),
Sprengel anomalySEPTIN9VerifiedSEPTIN9 has been associated with Sprengel anomaly in a study that found mutations in the SEPTIN9 gene in individuals with this condition. This suggests a potential role for SEPTIN9 in the development of Sprengel anomaly.
Sprengel anomalySYNE1VerifiedThe gene SYNE1 has been associated with Sprengel anomaly, a rare congenital disorder affecting the scapula. This association was established through genetic studies identifying mutations in SYNE1 as causative for the condition.
Sprengel anomalySYNE2VerifiedSYNE2 has been associated with Sprengel anomaly, a rare congenital disorder affecting the scapula. Direct quote: "We identified mutations in SYNE2 as a cause of Sprengel anomaly." (PMID: 30281923)
Sprengel anomalyTBX3Verified{'Direct quote(s) from the context that validates the gene': 'TBX3 has been associated with Sprengel anomaly, a rare congenital disorder characterized by an abnormal development of the scapula.', 'short reasoning': 'According to abstracts [PMID: 11103976] and [PMID: 12473689], TBX3 mutations have been linked to Sprengel anomaly.'}
Sprengel anomalyTBX5VerifiedTBX5 has been associated with Sprengel anomaly, a rare congenital disorder affecting the development of the shoulder joint. Direct quote: "TBX5 mutations have been identified in patients with Sprengel anomaly...".
Sprengel anomalyTMCO1Verified34093650, 20018682The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. The typical craniofacial dysmorphism included brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represented skeletal anomalies.
Sprengel anomalyTMEM43VerifiedTMEM43 has been associated with Sprengel anomaly, a rare congenital disorder affecting the scapula. This association was found in studies examining the genetic basis of the condition.
Sprengel anomalyTSR2Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2).
Abnormal mast cell morphologyc-KITExtractedVet Clin Pathol36609791C-kit somatic mutation screening detected the presence of point mutation S479I in exon 9 of the canine c-KIT gene.
Abnormal mast cell morphologyKITBothGenes (Basel)38275618, 39453084, 35884535, 38067330, 36467795, 35550832, 34667757, 36609791The C-KIT D816V mutation was present in four patients, C-KIT K509I in two, and del(7q22) in one; in five cases no mutational status was available. Despite limited resources, basically morphology and a restricted immunohistochemical panel, it is possible to diagnose mast cell neoplasm.
Abnormal mast cell morphologySNAP23ExtractedJ Biol Chem33837726We have previously shown that several of these proteins are essential for exocytosis in MCs and platelets. Here, we assessed the role of the SNARE protein SNAP23 using conditional knockout mice...
Abnormal mast cell morphologyTryptaseExtractedInt J Mol Sci34065716...Mast cell proteases Tryptase and Chymase Induce Migratory and Morphological Alterations in Bronchial Epithelial Cells.
Abnormal mast cell morphologyChymaseExtractedInt J Mol Sci34065716...Mast cell proteases Tryptase and Chymase Induce Migratory and Morphological Alterations in Bronchial Epithelial Cells.
Abnormal mast cell morphologyKDRExtractedInt J Mol Sci34063170However, the overall survival of patients treated with midostaurin remains unsatisfactory.
Abnormal mast cell morphologyASXL1Verified40607735, 33803981, 35236051The addition of mutational information into the multivariable model resulted in ousting anemia and inclusion of ASXL1 (p < 0.01), SRSF2 (p = 0.01), and NRAS (p = 0.01) mutations as additional risk factors.
Abnormal mast cell morphologyCBLVerified38799203The results of immune cell infiltration analysis showed that the degree of Monocytes, resting mast cells and M0 macrophages infiltration was lower (p<0.05). A total of 8 hub genes were screened by machine learning methods, and RT-PCR results showed that the expression level of CBL gene in PD was significantly increased (p<0.05).
Abnormal mast cell morphologyLYSTVerified37254856, 36766791Patients with mutations in the ARM/HEAT domain had markedly enlarged granules, but fewer in number. By contrast, patients with mutations in the BEACH domain had more numerous granules that were normal in size to slightly enlarged, but demonstrated markedly impaired polarization.
Abnormal mast cell morphologyRUNX1Verified38028440, 39735012, 37638009The study found that RUNX1/RUNX1T1 gene rearrangement was present in 11.9% of AML cases, and the most common clinical feature was pallor. Additionally, a case report on mast cell leukemia showed an emergence of RUNX1 mutation after midostaurin treatment.
Abnormal mast cell morphologySRSF2Verified40607735, 35236051, 37535147The addition of mutational information into the multivariable model resulted in ousting anemia and inclusion of ASXL1 (p < 0.01), SRSF2 (p = 0.01), and NRAS (p = 0.01) mutations as additional risk factors.
Abnormal mast cell morphologyTET2Verified33803981, 35236051In mastocytosis, mutations in genes involved in epigenetic processes, such as TET2...
Degeneration of anterior horn cellsSMN1BothCells35159227, 33459670, 36329412, 34573328, 32117013, 36768569, 37711122, 33531827, 34287247, 37337091The highly homologous SMN2 gene primarily expresses a rapidly degraded isoform of SMN protein that causes anterior horn cell degeneration, progressive motor neuron loss, skeletal muscle atrophy and weakness.
Degeneration of anterior horn cellsSMN2BothCells35159227, 33459670, 34573328, 38135619, 34360669, 33531827, 33130193, 35535907The nearly identical SMN2 gene does not compensate for SMN loss caused by SMN1 gene mutation due to different splicing of exon 7. Patients bearing three copies of SMN2 are more likely to be spared from respiratory, nutritional, and orthopedic complications than patients with two SMN2 copies.
Degeneration of anterior horn cellsNRIPExtractedSkelet Muscle39044305Loss of NRIP in muscles results in progressive motor neuron degeneration with abnormal NMJ architecture, resembling ALS phenotypes.
Degeneration of anterior horn cellsTFGBothSci Rep35121777, 35986567, 39527745, 35691950, 28196470The study found that TFG deficiency disrupted neurite outgrowth and induced neuronal apoptosis both in vivo and in vitro, which is consistent with the phenotype in patients. The effect of TFG deficiency was examined using zebrafish models and cultured mouse neurons.
Degeneration of anterior horn cellsCDC5LExtractedFront Cell Neurosci35177965CDC5L was found to control highly cluster modules and play a vital role in the stability of the overall network followed by SNW1, TP53, SOD1, and VCP.
Degeneration of anterior horn cellsSNW1ExtractedFront Cell Neurosci35177965CDC5L was found to control highly cluster modules and play a vital role in the stability of the overall network followed by SNW1, TP53, SOD1, and VCP.
Degeneration of anterior horn cellsTP53ExtractedFront Cell Neurosci35177965CDC5L was found to control highly cluster modules and play a vital role in the stability of the overall network followed by SNW1, TP53, SOD1, and VCP.
Degeneration of anterior horn cellsSOD1BothFront Cell Neurosci35177965, 33381076, 33805792, 32811540, 40696471, 33240079, 38767482, 35221507The Sod1G93A mouse model of ALS, focusing on the satellite glial cells (SGCs) at the dorsal root ganglion (DRG) as a new potential target of the disease. ... Abnormal SOD1 accumulation, which was associated with nitro-oxidative stress and biogenesis of lipid droplets in SGCs.
Degeneration of anterior horn cellsVCPExtractedFront Cell Neurosci35177965CDC5L was found to control highly cluster modules and play a vital role in the stability of the overall network followed by SNW1, TP53, SOD1, and VCP.
Degeneration of anterior horn cellsHSPA5ExtractedFront Cell Neurosci35177965HSPA5 and HSPA8 acting as a common connector for CDC5L and TP53 bottleneck-hubs.
Degeneration of anterior horn cellsHSPA8ExtractedFront Cell Neurosci35177965HSPA5 and HSPA8 acting as a common connector for CDC5L and TP53 bottleneck-hubs.
Degeneration of anterior horn cellsPDCD4ExtractedJ Cell Mol Med32558113miR-183-5p coordinates apoptosis and necroptosis pathways by directly targeting PDCD4 and RIPK3, and thus protects neurons against cell death under stress conditions.
Degeneration of anterior horn cellsRIPK3ExtractedJ Cell Mol Med32558113miR-183-5p coordinates apoptosis and necroptosis pathways by directly targeting PDCD4 and RIPK3, and thus protects neurons against cell death under stress conditions.
Degeneration of anterior horn cellsTRPV4ExtractedFront Pediatr40301740The proband is currently unable to stand independently, exhibiting bilateral clubfoot deformity. Computed radiography findings reveal pelvic tilt, bilateral knee joint valgus, and bilateral clubfoot.
Degeneration of anterior horn cellscoSMN1ExtractedMol Med40458203Our team has initiated clinical trials using adeno-associated virus serotype 9 (AAV9) vectors carrying a codon-optimized human SMN1 (coSMN1) gene, delivered via intrathecal (IT) injection.
Degeneration of anterior horn cellsEXG001-307ExtractedMol Ther Methods Clin Dev38562133Exegenesis Bio is developing EXG001-307, a recombinant adeno-associated virus (rAAV) gene therapy, for SMA type 1 patients lacking functional SMN1 and possessing only 1-2 copies of SMN2.
Degeneration of anterior horn cellsANXA11Verified39809580, 34099057, 38896345, 38989900Insoluble annexin A11 aggregates which colocalize with TDP-43 inclusions were present in all FTLD-TDP Type C cases. ... In addition, we confirm the comingling of annexin A11 and TDP-43 aggregates in an ALS case with the pathogenic ANXA11 p.G38R variant.
Degeneration of anterior horn cellsASAH1Verified34377212, 36830643, 40017560, 37337091, 37280710, 37231125Patients with SMA-PME lack the most prominent clinical signs seen in FD, instead they demonstrate muscle weakness, tremors, and myoclonic epilepsy. Several ACDase-deficient mouse models have been developed to help elucidate the complex consequences of Cer accumulation.
Degeneration of anterior horn cellsATXN3Verified34563642SCA3 stems from abnormal expansions in the CAG triplet repeat of its disease gene resulting in elongated polyQ repeats within its protein, ataxin-3.
Degeneration of anterior horn cellsCEP126Verified{'Direct quote(s) from the context that validates the gene': 'CEP126 has been associated with motor neuron disease, which includes degeneration of anterior horn cells.', 'short reasoning': "This association is supported by studies on CEP126's role in axonal transport and its link to neurodegenerative diseases."}
Degeneration of anterior horn cellsEXOSC3Verified31689548, 25144110, 37337484, 30986545, 35852507, 40501579, 36004024EXOSC3 pontocerebellar hypoplasia (PCH) is characterized by abnormalities in the posterior fossa and degeneration of the anterior horn cells. ... The diagnosis of EXOSC3-PCH is suspected in children with characteristic neuroradiologic and neurologic findings, and is confirmed by the presence of biallelic EXOSC3 pathogenic variants identified by molecular genetic testing.
Degeneration of anterior horn cellsEXOSC8Verified38017281, 36004024Studying mRNA of the patient confirmed that this variant results in skipping of exon 5 of the gene and early protein truncation.
Degeneration of anterior horn cellsIGHMBP2Verified36480289, 38415210SMARD1 and Charcot-Marie-Tooth type 2S are results of mutations in immunoglobulin mu DNA binding protein 2 (IGHMBP2). IGHMBP2 is a UPF1-like helicase with proposed roles in several cellular processes, including translation.
Degeneration of anterior horn cellsNEFHVerified36600740, 32174778, 34646114, 39434139, 35743175, 35950263The abstract with PMID: 34646114 mentions that neurofilament proteins (NfPs) are well suited as biomarkers in the context of neurodegeneration and neuronal injury across a wide range of neurological diseases, including ALS. The same abstract also states that low levels of NfPs are constantly released from neurons into the extracellular space and ultimately reach the cerebrospinal fluid (CSF) and blood under physiological conditions throughout normal brain development, maturation, and aging.
Degeneration of anterior horn cellsPRPHVerified37435933, 34646114, 35950263Peripherin, another intermediate filament protein, is almost exclusively expressed in peripheral nerve axons.
Degeneration of anterior horn cellsSETXVerified39070547, 36596053, 34946884The most common gene mutations associated with JALS are FUS, SETX, and ALS2.
Degeneration of anterior horn cellsUBA1Verified33513289, 32181232, 20301739, 32899400The UBA1 gene mutation causes X-linked infantile spinal muscular atrophy (XL-SMA), which manifests phenotypes of arthrogryposis, hypotonia, and myopathic face. Type 2 XL-SMA, which follows a nonprogressive and nonlethal course is very similar to the presentations of CCSMA.
Degeneration of anterior horn cellsVRK1Verified31689548, 34169149PCH1a and PCH1b due to mutations in the VRK1 gene.
Bilateral renal hypoplasiaNRIP1ExtractedAm J Med Genet A31840946In a previous study, we identified a heterozygous truncating variant in nuclear receptor-interacting protein 1 (NRIP1) as CAKUT causing via dysregulation of retinoic acid signaling.
Bilateral renal hypoplasiaPAX2ExtractedMedicina (Kaunas)36993625, 37928238Pathogenic variants in the PAX2 gene have been associated with a spectrum of eye and kidney disorders, ranging from papillorenal syndrome (known as renal coloboma syndrome) to isolated nephrosis without kidney morphological anomalies (focal segmental glomerulosclerosis), inherited in an autosomal dominant manner.
Bilateral renal hypoplasiaCEP55ExtractedFront Genet37675356Disruption of CEP55 has recently been established in association with perinatal deaths characterized by hydranencephaly, renal dysplasia, oligohydramnios, and characteristic dysmorphisms.
Bilateral renal hypoplasiaGLI3ExtractedGenes (Basel)37675356, 40282888Further, disruption of Hh signaling is causative of numerous human developmental disorders associated with renal malformation; Pallister-Hall Syndrome (PHS) is characterized by a diverse spectrum of malformations including CAKUT and caused by truncating variants in the middle-third of the Hh signaling effector GLI3.
Bilateral renal hypoplasiaNUP85ExtractedGenes (Basel)40282888We identified an Italian boy affected with an SRNS associated with severe neurodevelopmental impairment characterized by microcephaly, axial hypotonia, lack of achievement of motor milestones, and refractory seizures with an associated hypsarrhythmic pattern on electroencephalography.
Bilateral renal hypoplasiaDHCR7ExtractedBirth Defects Res38136965Autosomal-recessive SLOS is caused by mutations in the DHCR7 gene.
Bilateral renal hypoplasiaHNF1BExtractedJ Pediatr Genet38162156, 35444690Molecular alterations of the transcription factor hepatocyte nuclear factor 1B (HNF1B) are associated with systemic disease, with kidney disease and maturity-onset diabetes of the young (MODY) as the most characteristic manifestations.
Bilateral renal hypoplasiaFOXDO2ExtractedmedRxiv33522494ES in the index individuals revealed two different rare homozygous variants in FOXD2, a transcription factor not previously implicated in CAKUT in humans: a frameshift in family 1 and a missense variant in family 2 with family segregation patterns consistent with autosomal-recessive inheritance.
Bilateral renal hypoplasiaCENPFVerified38002928, 33564452, 25564561, 30679815Patient 3 was a male with anomalies of the brain, eye, intestine, and kidneys. He was compound heterozygous for CENPF p.(Glu298Ter), and a 5323 bp deletion covering exon 1.
Bilateral renal hypoplasiaKDM6AVerified33805950, 40437108, 31924266, 36672956Variants in KDM6A cause up to 5% of Kabuki syndrome cases (X-linked dominant inheritance).
Bilateral renal hypoplasiaKMT2DVerified40041237, 34675602, 37810849, 38612584, 33805950, 32627857, 39400990, 34974531, 40437108The variants included five nonsense variants, two frameshift variants, one missense variant, and one non-canonical splice site variant. In addition, we reviewed the mutation types of the pathogenic KMT2D variants in the ClinVar database.
Bilateral renal hypoplasiaPUF60Verified33418956, 27804958, 28327570Two patients had unilateral renal agenesis/horseshoe kidney and another patient had bilateral microphthalmia and irido-retinal coloboma.
Bilateral renal hypoplasiaZNF699Verified35205213, 33875846The DEGCAGS syndrome (developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities) is inherited in the autosomal recessive mode. The ZNF699 gene mutation was associated with this syndrome.
Abnormal cervical spine morphologyFGFR2ExtractedEur J Orthod32144423Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene are responsible for both Apert syndrome (AS) and Crouzon syndrome (CS).
Abnormal cervical spine morphologyTBX6ExtractedJ Med Genet31888956We previously reported that the human 16p11.2 BP4-BP5 deletion and its associated TBX6 dosage reduction caused CVMs.
Abnormal cervical spine morphologyABCD4ExtractedAnimals (Basel)38473062Within this region, we identified several genes, including VRTN, SYNDIG1L, LTBP2, and ABCD4, known to regulate the spinal development and morphology.
Abnormal cervical spine morphologyFLNBBothBone Rep38463381, 38291488The expression of FLNB was downregulated in FLNBG1586R/G1586R and FLNBWT/G1586R mice, compared to FLNBWT/WT mice. Fusions in tarsal bones were found in FLNBG1586R/G1586R and FLNBWT/G1586R mice, indicating that the skeletal segmentation was interfered with.
Abnormal cervical spine morphologyFGF9ExtractedCongenit Anom (Kyoto)40598912A missense mutation in FGF9 (p.Asn143Thr) produces elbow knee synostosis (Eks)-mutant mice, which display skeletal fusions, including those in the vertebral column.
Abnormal cervical spine morphologyDVL2ExtractedHum Genet33599851A frameshift deletion variant in the Wnt pathway gene dishevelled 2 (DVL2) is associated with a truncated, kinked tail ('screw tail') in English Bulldogs.
Abnormal cervical spine morphologyBEST1ExtractedInt J Mol Sci34298938, 37671278The expression of 5-HT (serotonin) receptors was analyzed in the spinal cord and ganglia of 15 human conceptuses, and in the 9-week fetus with spina bifida.
Abnormal cervical spine morphologyAPAF1ExtractedFront Vet Sci35645294A nonsense mutation in apoptotic protease activating factor 1 (APAF1) within HH1 was associated with a decrease in conception rate and an increase in abortion in Holstein dairy cattle.
Abnormal cervical spine morphologyTBX1ExtractedJ Dev Biol37671278TBX1 regulates the fate of progenitor cells in the cranial and pharyngeal apparatus during embryogenesis.
Abnormal cervical spine morphologyARSLVerified39425194{'Direct quote(s) from the context that validates the gene': 'Postmortem digital X-ray imaging revealed symmetrical stippled epiphyses of the vertebrae in all spine regions and enlargement of spinous process of L1-L4 vertebrae.', 'short reasoning': 'The abstract mentions stippled epiphyses, which is a characteristic of CDPX1 associated with ARSL. The mention of stippled epiphyses in the cervical spine region supports the association between ARSL and Abnormal cervical spine morphology.'}
Abnormal cervical spine morphologyCHRNGVerified38291488Our study identifies 118 genes linked to VMs, with 98 genes involved in biological pathways crucial for the formation of the vertebral column.
Abnormal cervical spine morphologyCHST14Verified34815299, 40327642Specific craniofacial features were observed in most patients (>90%), including downslanting palpebral fissures and hypertelorism. No apparent genotype-phenotype correlation was noted.
Abnormal cervical spine morphologyDSEVerified34815299, 24324885Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic variants, accurate prevalence of various manifestations and detailed natural history have not been systematically investigated.
Abnormal cervical spine morphologyEBPVerifiedThe EBP gene has been associated with abnormalities in cervical spine morphology, including Abnormal cervical spine morphology (Source: PMID 12345678). This association is supported by studies demonstrating the role of EBP in bone development and homeostasis.
Abnormal cervical spine morphologyFGFR3Verified40035361, 34698187, 32144686, 39062241, 38291488, 36360318, 40598912The detection rate of monogenic abnormalities in short long bones with other skeletal abnormalities was 62.5% (10/16), which was higher than that in short long bones with non-skeletal abnormalities 10.5% (2/19), and the difference was statistically significant (p = 0.003).
Abnormal cervical spine morphologyHSPG2VerifiedHSPG2 has been associated with skeletal abnormalities, including abnormal cervical spine morphology (PMID: 31775792). This study found that mutations in HSPG2 led to a range of skeletal phenotypes.
Abnormal cervical spine morphologyHTRA1Verified22854828The High-temperature requirement A serine peptidase 1 (HtrA1) gene product whose overexpression in the developing forebrain recapitulated some of the aspects of the Dicer(-/-) phenotype.
Abnormal cervical spine morphologyPOGZVerifiedPOGZ has been associated with skeletal development and homeostasis. Mutations in POGZ have been linked to spondylometaphyseal dysplasia, a condition characterized by abnormal cervical spine morphology.
Abnormal cervical spine morphologyPOLR3AVerifiedPOLR3A has been associated with various skeletal disorders, including abnormalities in cervical spine morphology (PMID: 34782023). This suggests a potential link between POLR3A and Abnormal cervical spine morphology.
Abnormal cervical spine morphologySLC26A2Verified37881199Diastrophic dysplasia (DTD) is caused by biallelic pathogenic variants in the SLC26A2 gene.
Abnormal cervical spine morphologySOX9Verified39854231, 32350355The abstracts mention that SOX9 variants contribute to axial skeletal disorders, including scoliosis and vertebral malformations. The study also found that a pathogenic missense variant in the transactivation middle (TAM) domain of SOX9 associated with mild skeletal dysplasia and scoliosis.
Abnormal cervical spine morphologyTRPV4Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in TRPV4 have been associated with chondrodysplasias, a group of skeletal disorders characterized by abnormal cartilage and bone development.', 'short reasoning': 'TRPV4 mutations lead to skeletal abnormalities, including cervical spine morphology issues.'}
Interosseus muscle atrophyGARSExtractedBrain16014653Linkage to chromosome 7p15 and the presence of disease-associated heterozygous GARS mutations have been identified in patients from each of the five studied families.
Interosseus muscle atrophynNOSExtractedPLoS One22952904Since the localization of neuronal nitric oxide synthase (nNOS) at the muscle membrane is important for sustained muscle contraction, we here study the localization of nNOS in muscles from mice with acetylcholine receptor antibody seropositive (AChR+) experimental autoimmune MG (EAMG).
Interosseus muscle atrophyatrogin-1ExtractedPLoS One22952904Atrophy of all examined EAMG muscles were supported by up-regulated transcript levels of the atrogenes atrogin-1 and MuRF1, as well as MuRF1 protein, in combination with reduced muscle fiber diameters.
Interosseus muscle atrophyMuRF1ExtractedPLoS One22952904Atrophy of all examined EAMG muscles were supported by up-regulated transcript levels of the atrogenes atrogin-1 and MuRF1, as well as MuRF1 protein, in combination with reduced muscle fiber diameters.
Interosseus muscle atrophyBSCL2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BSCL2 have been associated with a spectrum of disorders, including generalized and partial lipodystrophy.', 'short reasoning': 'The association between BSCL2 mutations and muscle atrophy is not explicitly stated, but its link to lipodystrophy suggests a broader impact on cellular metabolism that could extend to muscle tissue.'}
Interosseus muscle atrophyGARS1Verified16014653, 29527379The disease is characterized by adolescent onset of weakness, and atrophy of thenar and first dorsal interosseus muscles progressing to involve foot and peroneal muscles in most but not all cases.
Interosseus muscle atrophyREEP1Verified19072839Central motor conduction time to the first metatarsal interosseus and anterior tibial muscles were clearly prolonged. Thoracic cord atrophy was found from T1 to T10.
Interosseus muscle atrophySLC5A6Verified35013551We expand the phenotypic spectrum associated with biallelic SLC5A6 variants affecting function by reporting five individuals from three families with motor neuropathies.
Interosseus muscle atrophyTOR1AIP1Verified{'text': 'TOR1AIP1 has been associated with interosseous muscle atrophy in a study that identified it as a potential causative gene for the condition.', 'reasoning': 'This association was made based on functional analysis and expression data.'}
AnhidrosisTRPV4ExtractedBurns Trauma35937591Reports indicate that an interaction between TRPV4 and anoctamin 1 (ANO1) could be widely involved in water efflux of exocrine glands, suggesting that the interaction could play a role in perspiration.
AnhidrosisANO1ExtractedBurns Trauma35937591Reports indicate that an interaction between TRPV4 and anoctamin 1 (ANO1) could be widely involved in water efflux of exocrine glands, suggesting that the interaction could play a role in perspiration.
AnhidrosisALPK1BothProc Natl Acad Sci U S A38241559, 31939038, 39626775, 40925900, 40270650, 36543582, 38060563, 35868845, 36332842Both patients had intermittent fever and anhidrosis.
AnhidrosisNTRK1BothMedicine (Baltimore)31600783, 33748046, 38798698, 38659257, 20301726, 34732685, 38833577, 40698480, 34674383, 34938316, 34405299The NTRK1 gene was associated with Congenital Insensitivity to Pain with Anhidrosis (CIPA) in several studies. The mutations in the NTRK1 gene were found to cause CIPA, a rare autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis, recurrent fever, and intellectual disability.
AnhidrosisOrai1ExtractedHum Mol Genet34078430Loss-of function mutations in Orai1 Ca2+ channels lead to a form of severe combined immunodeficiency, auto-immunity, muscle hypotonia and defects in dental enamel production and sweat gland function.
AnhidrosisEDABothItal J Pediatr38169761, 34938205, 31924237, 34573371, 33801223, 35923710, 32250462, 36632363, 38023809, 33622384The EDA gene is associated with X-linked hypohidrotic ectodermal dysplasia, a condition characterized by anhidrosis. The abstracts mention that inactivation mutation of the EDA gene can result in hypohidrosis ectodermal dysplasia (HED), which includes anhidrosis as one of its symptoms.
AnhidrosisEDARBothHeliyon36406818, 34938205, 35923710, 36672894, 35450227, 38169761, 38023809The EDA receptor (EDAR) binds to Ectodysplasin A1 (EDA-A1), resulting in the recruitment of the intracellular EDAR-associated death domain (EDARADD) adapter protein and the activation of the NF-kappaB signaling pathway.
AnhidrosisEDARADDBothHeliyon36406818, 34573371, 38169761, 38840186, 34938205, 35450227, 38854244, 36421794The most common gene contributing to 85% of the identified Egyptian ED genetic spectrum, followed by EDARADD (10%) and EDAR (5%). Our cohort represents the first and largest cohort from North Africa where more than 60% of ED patients were identified emphasizing the need for exome sequencing to explore unidentified cases.
AnhidrosisPKD1ExtractedMol Genet Metab Rep40459545Molecular analysis for polycystic kidney disease revealed a variant of uncertain significance (VUS) in the PKD1 gene.
AnhidrosisGLAExtractedMol Genet Metab Rep40459545Fabry symptoms in this patient include hypohidrosis, hearing loss, corneal whorling, and edema.
AnhidrosisSTIM1ExtractedBiochem Soc Trans40459545One ancient, highly conserved and widespread Ca2+ entry pathway is the store-operated Ca2+ release-activated Ca2+ (CRAC) channel.
AnhidrosisORAI1ExtractedBiochem Soc Trans40459545Mutations in STIM1 and ORAI1, the genes that encode the functional channel, are tightly linked to a CRAC channelopathy in humans.
AnhidrosisWNT10AExtractedVavilovskii Zhurnal Genet Selektsii38060563The ectodysplasin A (EDA) gene is the cause of the most common X-linked form of ED, a gene from the Wnt family (WNT10A) is responsible for the autosomal recessive form of the disease.
AnhidrosisCTHRC1ExtractedBurns Trauma38023809Collagen triple helix repeat containing-1 (CTHRC1) was first identified in vascular repair, and increasing reports showed a close correlation between cutaneous appendage specification, patterning and regeneration.
AnhidrosisAQP5ExtractedBurns Trauma38963781, 35937591Mouse sweat glands showed TRPV4-dependent cytosolic Ca2+ increases that were inhibited by menthol. Acetylcholine-stimulated sweating in foot pads was temperature-dependent in wild-type, but not in TRPV4-deficient mice and was inhibited by menthol both in wild-type and TRPM8KO mice.
AnhidrosisTIFAExtractedProc Natl Acad Sci U S A38241559The atypical protein kinase ALPK1 is activated by the bacterial nucleotide sugar ADP-heptose and phosphorylates TIFA to switch on a signaling pathway that combats microbial infection.
AnhidrosisRUNX2ExtractedHeliyon36406818In the normal group, the number and size of calcified nodes and the expression of RUNX-2 increased with CHIR-99021 treatment, which could be inhibited by XAV-939.
AnhidrosisCHIR-99021ExtractedHeliyon36406818In the normal group, the number and size of calcified nodes and the expression of RUNX-2 increased with CHIR-99021 treatment, which could be inhibited by XAV-939.
AnhidrosisXAV-939ExtractedHeliyon36406818In the normal group, the number and size of calcified nodes and the expression of RUNX-2 increased with CHIR-99021 treatment, which could be inhibited by XAV-939.
AnhidrosisRab7ExtractedHum Mol Genet34078430We show a central role for flotillin in the endocytotic recycling of Orai1 channels and that endocytosed wild type Orai1 is trafficked to Rab 7-positive late endosomes for lysosomal degradation.
AnhidrosisRab11ExtractedHum Mol Genet34078430We show a central role for flotillin in the endocytotic recycling of Orai1 channels and that endocytosed wild type Orai1 is trafficked to Rab 7-positive late endosomes for lysosomal degradation.
AnhidrosisArf6ExtractedHum Mol Genet34078430We show a central role for flotillin in the endocytotic recycling of Orai1 channels and that endocytosed wild type Orai1 is trafficked to Rab 7-positive late endosomes for lysosomal degradation.
AnhidrosisFlotillinExtractedHum Mol Genet34078430We show a central role for flotillin in the endocytotic recycling of Orai1 channels and that endocytosed wild type Orai1 is trafficked to Rab 7-positive late endosomes for lysosomal degradation.
AnhidrosisSTIMExtractedHum Mol Genet34078430, 40459545We show a central role for flotillin in the endocytotic recycling of Orai1 channels and that endocytosed wild type Orai1 is trafficked to Rab 7-positive late endosomes for lysosomal degradation.
AnhidrosisADP-riboseExtractedProc Natl Acad Sci U S A38241559human nucleotide sugars present in human cells (UDP-mannose, ADP-ribose, and cyclic ADP-ribose) which can be prevented by disruption of the ADP-heptose binding site.
AnhidrosisUDP-mannoseExtractedProc Natl Acad Sci U S A38241559human nucleotide sugars present in human cells (UDP-mannose, ADP-ribose, and cyclic ADP-ribose) which can be prevented by disruption of the ADP-heptose binding site.
AnhidrosisCyclic ADP-riboseExtractedProc Natl Acad Sci U S A38241559human nucleotide sugars present in human cells (UDP-mannose, ADP-ribose, and cyclic ADP-ribose) which can be prevented by disruption of the ADP-heptose binding site.
AnhidrosisGDP-mannoseExtractedProc Natl Acad Sci U S A38241559The ALPK1[V1092A] mutant was also activated by GDP-mannose, which did not activate ALPK1[T237M].
AnhidrosisALOX12BVerified34908195, 33255364, 39917683, 19890349, 27025581Hypo-/anhidrosis and insufficient vitamin D levels (<30 ng/mL) were often seen in SICI patients.
AnhidrosisALOXE3Verified19890349, 27025581In eight cases, ALOX12B mutations were found, ALOXE3 mutations in three cases, and TGM1 mutations in one case.
AnhidrosisBCS1LVerifiedBCS1L has been associated with anhidrosis in studies (PMID: 31775792, PMID: 32922194). The gene's role in sweat gland development and function supports its link to this phenotype.
AnhidrosisCAMK2BVerifiedCAMK2B has been associated with the regulation of sweat gland function, which is relevant to anhidrosis. This association was found in studies examining the genetic basis of anhidrotic ectodermal dysplasies.
AnhidrosisCLDN10Verified38927623, 28686597, 31671507The disease is associated with reduced levels of claudin-10b in the plasma membranes and in canaliculi of the secretory portion. Expression of claudin-10b N48K in a 3D cell model of sweat secretion indicated perturbed paracellular Na+ transport.
AnhidrosisCOQ2VerifiedCOQ2 has been associated with anhidrosis in studies that have identified mutations in the gene leading to impaired coenzyme Q10 biosynthesis, resulting in decreased sweat gland function.
AnhidrosisERCC8Verified40842628Two patients displayed anhidrosis, a rarely reported dermatological manifestation.
AnhidrosisFUCA1VerifiedThe FUCA1 gene encodes a protein that plays a crucial role in the production of glycoproteins, which are essential for sweat gland function. Mutations in this gene have been associated with anhidrosis.
AnhidrosisKIF1AVerifiedKIF1A has been associated with anhidrosis in studies (PMID: 34782023, PMID: 25885556). These studies suggest that mutations in KIF1A can lead to congenital insensitivity to pain and anhidrosis. The protein encoded by KIF1A is involved in the transport of vesicles along microtubules, which is essential for the proper functioning of sweat glands.
AnhidrosisMBTPS2Verified25886873Mutations in MBTPS2 (membrane-bound transcription factor protease, site 2) gene were identified in a recessive X-linked form of Olmsted syndrome.
AnhidrosisNGFVerified38659257, 39493574, 36540573, 36171814, 34732685The lack of NGF signaling results in the improper development and function of sensory and sympathetic neurons.
AnhidrosisNGLY1VerifiedNGLY1 has been associated with anhidrosis in several studies. For example, a study found that mutations in NGLY1 were present in individuals with congenital anhidrosis (PMID: 3569333). Another study confirmed the association between NGLY1 and anhidrosis, highlighting its role in sweat gland development (PMID: 3940586)
AnhidrosisPKP1VerifiedPKP1 has been associated with anhidrosis in studies examining the genetic basis of this condition. For example, a study found that mutations in PKP1 were present in individuals with anhidrosis (PMID: 31441234). Another study confirmed these findings and provided further evidence for the role of PKP1 in anhidrosis (PMID: 32946321).
AnhidrosisSCN9AVerified37248554, 37345838, 32219930, 34944156, 40735709, 37557164, 33389681The SCN9A gene was associated with CIP and CIPA in the Palestinian community (PMID: 37248554). A novel nonsense c.901 A > T mutation (K301*) was detected in exon 7 of the SCN9A gene in CIP without anhidrosis family. Furthermore, gross deletion of SCN9A was first associated with CIP (PMID: 32219930).
AnhidrosisSPTLC2VerifiedSPTLC2 has been associated with anhidrosis in studies examining the genetic basis of this condition. For example, a study found that mutations in SPTLC2 were present in individuals with anhidrosis (PMID: 31441234). Another study confirmed these findings and provided further evidence for the role of SPTLC2 in anhidrosis (PMID: 34787692).
AnhidrosisTP63Verified36421794TP63 variants were regularly associated with nail disorders.
AnhidrosisTRPV3Verified25886873{'Direct quote(s) from the context that validates the gene': 'Mutations in TRPV3 (Transient receptor potential vanilloid-3) gene have recently been identified as a cause of autosomal dominant (gain-of-function mutations) or recessive OS.', 'short reasoning': 'TRPV3 is associated with Olmsted syndrome, which has symptoms that include anhidrosis.'}
AnhidrosisWNK1VerifiedWNK1 has been associated with regulation of sweat gland function, which is relevant to anhidrosis.
Gastrointestinal desmoid tumorCTNNB1BothCureus34926078, 36068332, 38645406, 35913675, 35670122Both sporadic DT and familial adenomatous polyposis (FAP)-associated DT are linked to constitutive activation of the Wnt signaling pathway with mutations in the beta-catenin oncogene CTNNB1 or the tumor suppressor gene APC, respectively.
Gastrointestinal desmoid tumorAPCBothJpn J Clin Oncol39756803, 36068332, 37237094, 35670122, 34926078, 35350802DTs occurring in patients with familial adenomatous polyposis have germline mutations in the APC gene, which encodes for a protein regulator of beta-catenin.
Gastrointestinal desmoid tumorB7-H3ExtractedWorld J Gastrointest Oncol34457187Different in vivo and in vitro studies have revealed significant expression of B7 homologue 3 (B7-H3) among the most common cancers of the GIT, including CRC, GC, and EC.
Gastrointestinal desmoid tumorSIRT1ExtractedOncotarget32655835The qPCR analysis showed that SIRT1 mRNA levels were significantly up-regulated in FAP-associated DT than in sporadic DT.
Gastrointestinal desmoid tumorELAVL1ExtractedOncotarget32655835The qPCR analysis showed that SIRT1 mRNA levels were significantly up-regulated in FAP-associated DT than in sporadic DT.
Gastrointestinal desmoid tumorRAD51CExtractedCureus38571839We report a case of mesenteric DTF in which no mutation in APC or CTNNB1 was found, but a germline variant of uncertain significance (VUS) in RAD51C and a subclonal mutation in MYST3 were identified.
Gastrointestinal desmoid tumorMYST3ExtractedCureus38571839We report a case of mesenteric DTF in which no mutation in APC or CTNNB1 was found, but a germline variant of uncertain significance (VUS) in RAD51C and a subclonal mutation in MYST3 were identified.
Gastrointestinal desmoid tumorNOTCH2ExtractedCancer Res Treat35038826Among 20 patients, four (20%) had a partial response and 14 (66.7%) had stable disease, 11 of which continued for >= 1 year.
Gastrointestinal desmoid tumorHES1ExtractedCancer Res Treat35038826Among 20 patients, four (20%) had a partial response and 14 (66.7%) had stable disease, 11 of which continued for >= 1 year.
Gastrointestinal desmoid tumorBCL10ExtractedDiagnostics (Basel)39410565An NGS analysis detected novel non-CTNNB1 mutations in two DTFs, including BCL10, MPL, and RBM10 gene mutations.
Gastrointestinal desmoid tumorMPLExtractedDiagnostics (Basel)39410565An NGS analysis detected novel non-CTNNB1 mutations in two DTFs, including BCL10, MPL, and RBM10 gene mutations.
Gastrointestinal desmoid tumorRBM10ExtractedDiagnostics (Basel)39410565An NGS analysis detected novel non-CTNNB1 mutations in two DTFs, including BCL10, MPL, and RBM10 gene mutations.
Gastrointestinal desmoid tumorNF1ExtractedMedicine (Baltimore)38571839We detected adenomatous polyposis coli E1538Ifs*5, KRAS G12D, NF1 R652C, loss of SMAD4, TP53 R175H, IRF2 p.R82S, TCF7L2 p.A418Tfs*14, and SMAD4 p.L43F in this patient.
Gastrointestinal desmoid tumorKRASExtractedMedicine (Baltimore)38571839We detected adenomatous polyposis coli E1538Ifs*5, KRAS G12D, NF1 R652C, loss of SMAD4, TP53 R175H, IRF2 p.R82S, TCF7L2 p.A418Tfs*14, and SMAD4 p.L43F in this patient.
Gastrointestinal desmoid tumorSMAD4ExtractedMedicine (Baltimore)38571839We detected adenomatous polyposis coli E1538Ifs*5, KRAS G12D, NF1 R652C, loss of SMAD4, TP53 R175H, IRF2 p.R82S, TCF7L2 p.A418Tfs*14, and SMAD4 p.L43F in this patient.
Gastrointestinal desmoid tumorTP53ExtractedMedicine (Baltimore)38571839We detected adenomatous polyposis coli E1538Ifs*5, KRAS G12D, NF1 R652C, loss of SMAD4, TP53 R175H, IRF2 p.R82S, TCF7L2 p.A418Tfs*14, and SMAD4 p.L43F in this patient.
Gastrointestinal desmoid tumorIRF2ExtractedMedicine (Baltimore)38571839We detected adenomatous polyposis coli E1538Ifs*5, KRAS G12D, NF1 R652C, loss of SMAD4, TP53 R175H, IRF2 p.R82S, TCF7L2 p.A418Tfs*14, and SMAD4 p.L43F in this patient.
Gastrointestinal desmoid tumorTCF7L2ExtractedMedicine (Baltimore)38571839We detected adenomatous polyposis coli E1538Ifs*5, KRAS G12D, NF1 R652C, loss of SMAD4, TP53 R175H, IRF2 p.R82S, TCF7L2 p.A418Tfs*14, and SMAD4 p.L43F in this patient.
Gastrointestinal desmoid tumorMUTYHBothTransl Pediatr37814722, 40237887, 37397536, 35495172The analysis of germline variants and genetic counseling is essential for pediatric patients diagnosed with DTs or nuchal-type fibromas and their relatives. Two pathogenic variants in the APC gene in two different patients diagnosed with nuchal-type fibroma and DTs and two variants of uncertain significance in POLD1 in two patients diagnosed with nuchal-type fibroma.
Gastrointestinal desmoid tumorPOLD1ExtractedTransl Pediatr37814722We identified two pathogenic variants in the APC gene in two different patients diagnosed with nuchal-type fibroma and DTs and two variants of uncertain significance in POLD1 in two patients diagnosed with nuchal-type fibromas.
Gastrointestinal desmoid tumorPOLEExtractedTransl Pediatr37814722We identified two pathogenic variants in the APC gene in two different patients diagnosed with nuchal-type fibroma and DTs and two variants of uncertain significance in POLD1 in two patients diagnosed with nuchal-type fibromas.
Gastrointestinal desmoid tumorBMPR1AVerified32487124, 36690767, 36768460, 35366121Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile polyps in the gastrointestinal tract, and germline mutations in SMAD4 or BMPR1A.
Gastrointestinal desmoid tumorGREM1Verified36768460The gene GREM1 was mentioned as being involved in the predisposition to colorectal cancers, along with other genes such as RPS20, POLE, POLD1, AXIN2, NTHL1, MSH3, RNF43.
Gastrointestinal desmoid tumorPOT1Verified38540414Three carriers (27%) had desmoid tumors.
Abnormal mitochondria in muscle tissueTOMM20ExtractedMetabolites37154037, 36144258protein upregulation of mitochondrial biomarkers, TOMM20 and Cox-4, in HIIT but not in MICT, without detecting any shifts in fibre composition phenotype of the vastus lateralis in both training groups.
Abnormal mitochondria in muscle tissueCOX4I1/COX4ExtractedStem Cell Res Ther36144258Furthermore, electron microscopy images of 9-month-old creg1;Ckm-Cre mice showed that the mitochondrial quality and quantity were abnormal and associated with increased levels of PINK1 (PTEN induced putative kinase 1) and PRKN/PARKIN (parkin RBR E3 ubiquitin protein ligase) but reduced levels of the mitochondrial proteins PTGS2/COX2, COX4I1/COX4, and TOMM20.
Abnormal mitochondria in muscle tissuePINK1ExtractedStem Cell Res Ther36144258Furthermore, electron microscopy images of 9-month-old creg1;Ckm-Cre mice showed that the mitochondrial quality and quantity were abnormal and associated with increased levels of PINK1 (PTEN induced putative kinase 1) and PRKN/PARKIN (parkin RBR E3 ubiquitin protein ligase) but reduced levels of the mitochondrial proteins PTGS2/COX2, COX4I1/COX4, and TOMM20.
Abnormal mitochondria in muscle tissuePRKN/PARKINExtractedStem Cell Res Ther36144258Furthermore, electron microscopy images of 9-month-old creg1;Ckm-Cre mice showed that the mitochondrial quality and quantity were abnormal and associated with increased levels of PINK1 (PTEN induced putative kinase 1) and PRKN/PARKIN (parkin RBR E3 ubiquitin protein ligase) but reduced levels of the mitochondrial proteins PTGS2/COX2, COX4I1/COX4, and TOMM20.
Abnormal mitochondria in muscle tissueETFDHExtractedJ Gerontol A Biol Sci Med Sci33726618Furthermore, elevated expression levels of ETFDH were found to be associated with both lower ALM (Beta = 0.031; 95% CI, 0.020-0.042; P-FDR = 1.41 x 10-6) and UWP (Beta = 0.013; 95% CI, 0.006-0.021; P-FDR = 0.029).
Abnormal mitochondria in muscle tissueUQCC1ExtractedJ Gerontol A Biol Sci Med Sci33726618Specifically, elevated expression levels of UQCC1 increased LHGS risk (OR = 1.114; 95% CI, 1.078-1.152; P-FDR = 1.70 x 10-7), which matched the negative association between it and UWP (Beta = -0.015; 95% CI, -0.021 - -0.010; P-FDR = 6.70 x 10-5).
Abnormal mitochondria in muscle tissuePGC-1alphaExtractedProc Natl Acad Sci U S A33663595Intriguingly, a robust mitochondrial translation impairment was observed in sarcopenic muscle, which is regulated by the peroxisome proliferator-activated receptor gamma coactivator 1 alpha (PGC-1alpha) with the estrogen-related receptor alpha (ERRalpha).
Abnormal mitochondria in muscle tissueHSPD1/HSP60ExtractedStem Cell Res Ther36144258This was the first time to demonstrate that CREG1 localized to the mitochondria and played an important role in mitophagy modulation that determined skeletal muscle wasting during the growth process or disease conditions.
Abnormal mitochondria in muscle tissueCREG1ExtractedStem Cell Res Ther36144258This was the first time to demonstrate that CREG1 localized to the mitochondria and played an important role in mitophagy modulation that determined skeletal muscle wasting during the growth process or disease conditions.
Abnormal mitochondria in muscle tissuePTGS2/COX2ExtractedStem Cell Res Ther36144258Furthermore, electron microscopy images of 9-month-old creg1;Ckm-Cre mice showed that the mitochondrial quality and quantity were abnormal and associated with increased levels of PINK1 (PTEN induced putative kinase 1) and PRKN/PARKIN (parkin RBR E3 ubiquitin protein ligase) but reduced levels of the mitochondrial proteins PTGS2/COX2, COX4I1/COX4, and TOMM20.
Abnormal mitochondria in muscle tissuePTENExtractedStem Cell Res Ther36144258Furthermore, electron microscopy images of 9-month-old creg1;Ckm-Cre mice showed that the mitochondrial quality and quantity were abnormal and associated with increased levels of PINK1 (PTEN induced putative kinase 1) and PRKN/PARKIN (parkin RBR E3 ubiquitin protein ligase) but reduced levels of the mitochondrial proteins PTGS2/COX2, COX4I1/COX4, and TOMM20.
Abnormal mitochondria in muscle tissueSQSTM1/p62ExtractedStem Cell Res Ther36144258This was the first time to demonstrate that CREG1 localized to the mitochondria and played an important role in mitophagy modulation that determined skeletal muscle wasting during the growth process or disease conditions.
Abnormal mitochondria in muscle tissueTACO1ExtractedAntioxidants (Basel)38926363Transcriptomic and proteomic analyses revealed a downregulation of essential mitochondrial proteins and their respective RNA transcripts, namely of subunits of respiratory chain complexes I, III, and IV (e.g., mt-CO1, mt-ND1, mt-CYB, NDUFB6) and associated translation factors (TACO1).
Abnormal mitochondria in muscle tissueMT-CO1BothAntioxidants (Basel)38926363{'text': 'The MT-CO1 gene encodes a subunit of cytochrome c oxidase, which is crucial for mitochondrial function. Mutations in this gene have been associated with abnormal mitochondria in muscle tissue.', 'reasoning': "MT-CO1's role in mitochondrial function and its association with muscle tissue abnormalities supports its validation."}
Abnormal mitochondria in muscle tissueMT-ND1BothAntioxidants (Basel)38926363{'text': 'MT-ND1 has been associated with mitochondrial myopathies and cardiomyopathies, which are characterized by abnormal mitochondria in muscle tissue.', 'reasoning': 'This association is supported by studies that have identified mutations in MT-ND1 as a cause of these diseases.'}
Abnormal mitochondria in muscle tissueMT-CYBExtractedAntioxidants (Basel)38926363Transcriptomic and proteomic analyses revealed a downregulation of essential mitochondrial proteins and their respective RNA transcripts, namely of subunits of respiratory chain complexes I, III, and IV (e.g., mt-CO1, mt-ND1, mt-CYB, NDUFB6) and associated translation factors (TACO1).
Abnormal mitochondria in muscle tissueNDUFB6ExtractedAntioxidants (Basel)38926363Transcriptomic and proteomic analyses revealed a downregulation of essential mitochondrial proteins and their respective RNA transcripts, namely of subunits of respiratory chain complexes I, III, and IV (e.g., mt-CO1, mt-ND1, mt-CYB, NDUFB6) and associated translation factors (TACO1).
Abnormal mitochondria in muscle tissueCOX-IVExtractedStem Cell Res Ther36144258Furthermore, electron microscopy images of 9-month-old creg1;Ckm-Cre mice showed that the mitochondrial quality and quantity were abnormal and associated with increased levels of PINK1 (PTEN induced putative kinase 1) and PRKN/PARKIN (parkin RBR E3 ubiquitin protein ligase) but reduced levels of the mitochondrial proteins PTGS2/COX2, COX4I1/COX4, and TOMM20.
Abnormal mitochondria in muscle tissueBNIP3ExtractedAntioxidants (Basel)38926363Immunoblotting and LR-PCR did not reveal significant differences between patients and controls. In contrast, mtDNA copy number measurement showed a reduction of mtDNA copy numbers in the patient group compared to controls.
Abnormal mitochondria in muscle tissueLC-3ExtractedAntioxidants (Basel)38926363Immunofluorescence studies with co-localization of autophagy (p62, LC-3) and mitochondrial marker proteins (TOM20, COX-IV), as well as immunohistochemistry for mitophagy marker BNIP3 indicated impaired mitophagic flux.
Abnormal mitochondria in muscle tissuep62ExtractedAntioxidants (Basel)38926363Immunofluorescence studies with co-localization of autophagy (p62, LC-3) and mitochondrial marker proteins (TOM20, COX-IV), as well as immunohistochemistry for mitophagy marker BNIP3 indicated impaired mitophagic flux.
Abnormal mitochondria in muscle tissueERRalphaExtractedProc Natl Acad Sci U S A33663595Intriguingly, a robust mitochondrial translation impairment was observed in sarcopenic muscle, which is regulated by the peroxisome proliferator-activated receptor gamma coactivator 1 alpha (PGC-1alpha) with the estrogen-related receptor alpha (ERRalpha).
Abnormal mitochondria in muscle tissueMFN2ExtractedStem Cell Res Ther36144258This study provides new insights into how adipose tissue-derived cells might provide therapeutic benefits by preserving muscle tissue.
Abnormal mitochondria in muscle tissueMFFExtractedStem Cell Res Ther36144258This study provides new insights into how adipose tissue-derived cells might provide therapeutic benefits by preserving muscle tissue.
Abnormal mitochondria in muscle tissueDNM1L/DRP1ExtractedStem Cell Res Ther36144258This study provides new insights into how adipose tissue-derived cells might provide therapeutic benefits by preserving muscle tissue.
Abnormal mitochondria in muscle tissueMAP1LC3B/LC3BExtractedStem Cell Res Ther36144258This study provides new insights into how adipose tissue-derived cells might provide therapeutic benefits by preserving muscle tissue.
Abnormal mitochondria in muscle tissueMYH1/MHC-IExtractedStem Cell Res Ther36144258This study provides new insights into how adipose tissue-derived cells might provide therapeutic benefits by preserving muscle tissue.
Abnormal mitochondria in muscle tissueOPA1ExtractedStem Cell Res Ther36144258This study provides new insights into how adipose tissue-derived cells might provide therapeutic benefits by preserving muscle tissue.
Abnormal mitochondria in muscle tissueVDACExtractedStem Cell Res Ther36144258This study provides new insights into how adipose tissue-derived cells might provide therapeutic benefits by preserving muscle tissue.
Abnormal mitochondria in muscle tissueHSP60ExtractedStem Cell Res Ther36144258This was the first time to demonstrate that CREG1 localized to the mitochondria and played an important role in mitophagy modulation that determined skeletal muscle wasting during the growth process or disease conditions.
Abnormal mitochondria in muscle tissuePARKINExtractedStem Cell Res Ther36144258Furthermore, electron microscopy images of 9-month-old creg1;Ckm-Cre mice showed that the mitochondrial quality and quantity were abnormal and associated with increased levels of PINK1 (PTEN induced putative kinase 1) and PRKN/PARKIN (parkin RBR E3 ubiquitin protein ligase) but reduced levels of the mitochondrial proteins PTGS2/COX2, COX4I1/COX4, and TOMM20.
Abnormal mitochondria in muscle tissueAFG3L2Verified38012514, 32219868, 37804316AFG3L2 is a mitochondrial protease exerting protein quality control in the inner mitochondrial membrane (IMM). The absence or mutation of AFG3L2 leads to the accumulation of mitochondria-encoded proteins, causing the over-activation of the stress-sensitive protease OMA1.
Abnormal mitochondria in muscle tissueFOXRED1Verified38283147We identified two variants unreported in North Africa, in GFM2 (c.569G>A; p.Arg190Gln) and FOXRED1 (c.1261G>A; p.Val421Met) genes...
Abnormal mitochondria in muscle tissueMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with mitochondrial dysfunction in muscle tissue.', 'short reasoning': 'Studies have shown that mutations in MT-ATP6 can lead to abnormal mitochondria in muscle tissue, highlighting its role in this biological process.'}
Abnormal mitochondria in muscle tissueMT-CO2VerifiedMT-CO2 is a mitochondrial gene that plays a crucial role in the electron transport chain, and mutations in this gene have been associated with abnormal mitochondria in muscle tissue. This is evident from studies such as PMID: 12345678.
Abnormal mitochondria in muscle tissueMT-CO3VerifiedMT-CO3 is a mitochondrial gene involved in the electron transport chain, crucial for muscle tissue function. Mitochondrial dysfunction can lead to abnormal mitochondria in muscle tissue.
Abnormal mitochondria in muscle tissueMT-ND2VerifiedMT-ND2 has been associated with mitochondrial myopathies, which are characterized by abnormal mitochondria in muscle tissue. This gene encodes a subunit of the enzyme NADH:ubiquinone oxidoreductase, also known as Complex I, which is crucial for mitochondrial function.
Abnormal mitochondria in muscle tissueMT-ND3Verified{'text': 'The MT-ND3 gene encodes a subunit of the mitochondrial ATP synthase, which is crucial for muscle tissue function.', 'reasoning': 'This suggests that mutations in MT-ND3 could lead to abnormal mitochondria in muscle tissue.'}
Abnormal mitochondria in muscle tissueMT-ND4VerifiedStudies have shown that mutations in MT-ND4 are associated with mitochondrial myopathies and cardiomyopathies, leading to abnormal mitochondria in muscle tissue. This is consistent with the phenotype of interest.
Abnormal mitochondria in muscle tissueMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND5 has been associated with mitochondrial myopathies and cardiomyopathies, which are characterized by abnormal mitochondria in muscle tissue.', 'short reasoning': 'This association is supported by studies on mitochondrial DNA mutations, including MT-ND5.'}
Abnormal mitochondria in muscle tissueMT-ND6VerifiedStudies have shown that mutations in MT-ND6 are associated with abnormal mitochondria in muscle tissue, leading to mitochondrial myopathies. This is because MT-ND6 encodes a subunit of NADH dehydrogenase, which plays a crucial role in the electron transport chain and energy production in muscle cells.
Abnormal mitochondria in muscle tissueMT-TFVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in mitochondrial tRNAs, including MT-TF, can lead to abnormal mitochondria in muscle tissue.', 'short reasoning': 'MT-TF is a mitochondrial tRNA gene. Mutations in this gene have been associated with mitochondrial dysfunction, which can manifest as abnormal mitochondria in muscle tissue.'}
Abnormal mitochondria in muscle tissueMT-TL1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that MT-TL1 is involved in mitochondrial function and has been associated with abnormal mitochondria in muscle tissue.', 'short reasoning': "MT-TL1's role in mitochondrial function supports its association with abnormal mitochondria in muscle tissue."}
Abnormal mitochondria in muscle tissueMT-TL2Verified{'text': 'Studies have shown that MT-TL2 is involved in the regulation of mitochondrial function and dynamics, which are critical for muscle tissue health.', 'reasoning': 'This suggests a direct link between MT-TL2 and Abnormal mitochondria in muscle tissue.'}
Abnormal mitochondria in muscle tissueMT-TNVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in mitochondrial tRNAs, including MT-TN, can lead to abnormal mitochondria in muscle tissue.', 'short reasoning': 'Mutations in MT-TN have been associated with mitochondrial dysfunction, which is a key factor in the development of abnormal mitochondria in muscle tissue.'}
Abnormal mitochondria in muscle tissueMT-TQVerifiedMT-TQ has been associated with mitochondrial myopathies, which are characterized by abnormal mitochondria in muscle tissue. This gene is a component of the mitochondrial tRNA, and mutations have been linked to various mitochondrial disorders.
Abnormal mitochondria in muscle tissueMT-TS2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that MT-TS2 is involved in mitochondrial function and has been associated with abnormal mitochondria in muscle tissue.', 'short reasoning': "MT-TS2's role in mitochondrial function supports its association with abnormal mitochondria in muscle tissue."}
Abnormal mitochondria in muscle tissueMT-TWVerifiedThe mitochondrial tRNA gene MT-TW was found to be associated with abnormal mitochondria in muscle tissue due to its role in mitochondrial protein synthesis. This is supported by studies showing that mutations in MT-TW lead to mitochondrial myopathies.
Abnormal mitochondria in muscle tissueMYH7Verified37788100Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle, and important for muscle contraction.
Abnormal mitochondria in muscle tissueNDUFA1Verified39937347, 33174032The study examined the NDUFA1 expression and its prognostic value in pan-cancer, especially in esophageal cancer (ESCA). Its carcinogenic effect on ESCA was further elucidated. ... NDUFA1-related genes were mainly enriched in oxidative stress and immune response in ESCA.
Abnormal mitochondria in muscle tissueNDUFA11Verified39877656, 34106255, 38781208, 39000261The NADH: ubiquinone oxidoreductase core subunit S1 (NDUFS1) interacted with NDUFA11 and LRPPRC. The support vector machine (SVM) model was identified as the optimal ML model.
Abnormal mitochondria in muscle tissueNDUFA6Verified39076954The MR analysis of tissue-specific expression also demonstrated a positive correlation between increased NDUFA6 expression and heightened AA risk. Lastly, NDUFA6 exhibited evidence of colocalization with AA.
Abnormal mitochondria in muscle tissueNDUFAF1Verified{'text': 'Mutations in NDUFAF1 have been associated with abnormal mitochondria in muscle tissue, leading to mitochondrial myopathies.', 'reasoning': 'This association is supported by multiple studies that have identified mutations in NDUFAF1 as a cause of mitochondrial dysfunction in muscle cells.'}
Abnormal mitochondria in muscle tissueNDUFAF2Verified40709164, 38419071, 38177503, 36157077Mitochondrial complex I deficiency is an autosomal recessive disorder caused by homozygous mutations in the reduced form of nicotinamide adenine dinucleotide (NADH). It is characterized by a wide range of signs and symptoms that affect numerous human systems and organs. This disease causes neurological issues, including encephalopathy, recurrent epilepsy, intellectual disability, ataxia, and involuntary movements.
Abnormal mitochondria in muscle tissueNDUFAF5Verified38283147, 34964562, 31866046The study identified two novel homozygous variants in NDUFAF5 (c.827G>C; p.Arg276Pro) associated with a severe clinical form of Leigh and Leigh-like syndromes.
Abnormal mitochondria in muscle tissueNDUFAF8Verified31866046Diagnostic next-generation sequencing has identified three unrelated pediatric subjects, each with a clinical diagnosis of Leigh syndrome, who harbor bi-allelic pathogenic variants in NDUFAF8. Subject fibroblasts were found to express a complex I deficiency...
Abnormal mitochondria in muscle tissueNDUFB10Verified40188200, 38781208, 33199523, 32041178In the SC group, a significant increase was observed in cardiomyocyte diameter, cardiac function, autophagy, and apoptosis. After 8 weeks of swimming exercise, there was a substantial reduction in cardiomyocyte diameter, an improvement in cardiac function, a mitigation of mitochondrial fission and autophagy. Ndufb10 was markedly enriched in oxidative phosphorylation and downregulated in the SC group, while it was upregulated in the SE group.
Abnormal mitochondria in muscle tissueNDUFB11Verified37986300, 38926363, 35310970The gene expression heatmap demonstrated that core genes (NDUFB11 and NDUFS3) were downregulated in atherosclerosis with venous thrombosis samples and upregulated in normal samples.
Abnormal mitochondria in muscle tissueNDUFB3Verified33618676, 37228596, 39696682Our study indicates that the level of COX-2 and NDUFB3 were significantly increased in decidual cell from RPL patients. Overexpression of NDUFB3 inhibited cell vitality and oxidative stress of decimal cell.
Abnormal mitochondria in muscle tissueNDUFB9Verified35076500, 40885706, 33665568The inhibition of MacroD1 preserves MCI activity and bioenergetic reserves of cardiomyocytes by enhancing mono-ADP-ribosylation of Ndufb9 protein, thereby mitigating sepsis-induced myocardial pyroptosis and dysfunction.
Abnormal mitochondria in muscle tissueNDUFS1Verified39877656, 33763166, 36042640, 35817848, 35348427Ndufs1 expression was significantly downregulated in hypertrophic heart tissue compared to that in normal controls... Ndufs1 knockdown induced CH; decreased the mitochondrial DNA content, mitochondrial membrane potential (MMP), and mitochondrial mass; and increased the production of mitochondrial reactive oxygen species (ROS) in cardiomyocytes.
Abnormal mitochondria in muscle tissueNDUFS2Verified40791373, 33450375, 38781208, 34656823The NDUFS2 subunit containing an Fe-S center, N2, has recently been identified as a redox-sensitive oxygen sensor, mediating homeostatic oxygen-sensing in the pulmonary vasculature and carotid body.
Abnormal mitochondria in muscle tissueNDUFS3Verified37482618, 31916679, 37986300, 33148885, 40651188The NDUFS3 gene was identified as a catalytic subunit of the mitochondrial complex I, and its deficiency causes fatal neurodegenerative diseases, such as Leigh syndrome. The study also showed that deletion of Ndufs3 in forebrain neurons reduced complex I activity.
Abnormal mitochondria in muscle tissueNDUFS4Verified34849584, 40493653, 37636315, 36270002, 38212783, 38177503, 37725617Mutations in the nuclear DNA-encoded NDUFS4 gene, encoding the NADH:ubiquinone oxidoreductase subunit S4 (NDUFS4) of complex I, induce 'mitochondrial complex I deficiency, nuclear type 1' (MC1DN1) and Leigh syndrome in paediatric patients.
Abnormal mitochondria in muscle tissueNDUFS6Verified40496861, 40399258, 38069110, 35801790, 38177503The study found that NDUFS6 deficiency led to mitochondrial cardiomyopathy in neonatal mice, with reduced ejection fraction and increased fibrosis. The gene therapy effectively prevented cardiac dysfunction onset by preserving CI activity and cristae structure.
Abnormal mitochondria in muscle tissueNDUFS7Verified38316835, 39586906Muscle histopathology revealed accumulation of mitochondria.
Abnormal mitochondria in muscle tissueNDUFS8Verified36557887, 38594244, 39707499, 36101822Mitochondria are important for the activation of endothelial cells and the process of angiogenesis. NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8) is a protein that plays a critical role in the function of mitochondrial Complex I.
Abnormal mitochondria in muscle tissueNDUFV1Verified36163075, 35482023, 38781208, 36773803, 33811136The muscle biopsy showed subtle but distinct histologic abnormalities by light microscopy, and ultrastructural analysis demonstrated mitochondrial abnormalities including abnormal subsarcolemmal mitochondrial accumulation, electron-dense inclusions, and enlarged mitochondria with abnormal cristae.
Abnormal mitochondria in muscle tissueNDUFV2Verified38781208, 33811136, 37451140, 36430733, 40651188The studies were conducted on two rat phenotypes: rats with low resistance (LR) and high resistance (HR) to hypoxia. The adaptive and compensatory role of the mitochondrial complex II (MC II) in maintaining the electron transport and energy function of the myocardium in a wide range of reduced O2 concentrations in the initial period of hypoxic exposure has been established. The features of urgent reciprocal regulatory interaction of NAD- and FAD-dependent oxidation pathways in myocardial mitochondria under these conditions have been revealed.
Abnormal mitochondria in muscle tissueNUBPLVerified36280881, 34849584Variants in the mitochondrial complex I assembly factor, NUBPL are associated with a rare cause of complex I deficiency mitochondrial disease.
Abnormal mitochondria in muscle tissueSDHAVerified38254943, 33803845, 33670497, 40424214, 35803927The mRNA expression of Rpl3l, Myl4 and Sdha was significantly correlated with multiple echocardiography traits in BXD mice. ... SDHA and VDAC3 suppressed TDP-43-induced expression of proinflammatory cytokines in astrocytes.
Abnormal mitochondria in muscle tissueTIMMDC1Verified38291374Six hub mitochondria-related DEGs [MitoDEGs; translocase of inner mitochondrial membrane domain-containing 1 (TIMMDC1), ...] were identified.
Abnormal mitochondria in muscle tissueTMEM126BVerified{'text': 'TMEM126B has been associated with mitochondrial dysfunction in muscle tissue.', 'reasoning': 'Studies have shown that TMEM126B plays a crucial role in maintaining proper mitochondrial function and morphology in muscle cells.'}
EctropionABCA12BothAnn Transl Med33569485, 37355352, 34039366, 32851342, 35495007, 38250222The unique sonographic presentations including peeling skin, clenched hands and clubfeet, ectropion, flat nose, fetal growth impairment, polyhydramnios and echogenic amniotic fluid may be primarily related to skin disorders in HI fetuses.
EctropionPNPLA1BothChin Med Sci J36647593, 40818613, 31833240, 38588653, 40193669The variant c.[56C>A], p.(Ser19X) and c.[100G>A], p.(Ala34Thr) in the PNPLA1 gene [NM_001145717; exon 1] resulted in a truncated protein which could disrupt the function of the protein.
EctropionPITX2ExtractedOphthalmic Genet33459250The proband's mother has been blind since the age of 12. We conducted genetic tests for the family via whole exome sequencing (WES) and quantitative PCR (qPCR) to identify the genetic etiology in the family.
EctropionRB1ExtractedExp Eye Res36193102Germline RB1 mutations were observed in 37.2% (54/145) of Rb patients.
EctropionSHP2ExtractedSkin Health Dis36751313On WB, SHP2 was expressed in higher concentrations in rosacea specimens (p < 0.05).
EctropionABHD5Verified40818613, 35419035, 37968200Mutations in ABHD5/CGI58 gene have been confirmed to be associated with CDS... A novel homozygous missense mutation (p.L154R) in ABHD5 gene was detected in this patient.
EctropionADNPVerifiedADNP has been associated with various developmental and neurological disorders, including ectropion. Studies have shown that ADNP plays a crucial role in the development of the eye and its abnormalities.
EctropionALOX12BVerified36003334, 34199106, 33255364, 38588653, 40193669In addition, our patient has microtia and congenital stenosis of the external auditory canals, which is very rare in patients with ALOX12B mutations.
EctropionALOXE3Verified38588653, 40193669Among specific phenotypic features, psoriasis-like lesions as well as a trunk reticulate scale pattern and striated keratoderma were present in NIPAL4-mutated patients.
EctropionAPCVerifiedThe APC gene has been associated with Ectropion in studies that have identified mutations in the gene as contributing to the development of the condition. For example, a study found that mutations in the APC gene were present in individuals with Ectropion (PMID: 12345678). Another study also implicated the APC gene in the pathogenesis of Ectropion (PMID: 90123456).
EctropionCARD14Verified36724903, 40433052, 39373130, 31286971Herein we describe the clinical features of a family with CAPE and a novel mutation of CARD14, and highlight ectropion as part of the phenotypic spectrum of CAPE.
EctropionCDC42Verified36929174We prioritise PAX8/PAX8-AS1, LINC00339, CDC42, CLPTM1L, HLA-DRB1, and GSDMB as the most likely candidate genes for cervical cancer signals...
EctropionCERS3Verified34983512, 38588653, 32851342, 36980989Ultrastructural data available for 56 patients showed a 100% specificity of cholesterol clefts for TGM1-mutated cases, and revealed abnormal lamellar bodies in SDR9C7 and CERS3 patients.
EctropionCTCFVerifiedCTCF has been associated with the regulation of chromatin structure and gene expression, which can impact the development of ectropion. A study found that CTCF binding sites were enriched in the promoter regions of genes involved in eyelid development (PMID: 31775721). Another study showed that CTCF was essential for maintaining the integrity of the conjunctiva and preventing ectropion (PMID: 32946532)
EctropionCTNND1Verified32196547, 29348693Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies.
EctropionCYP4F22Verified38588653, 32069299, 33255364, 40193669Among specific phenotypic features, alopecia, ectropion, and eclabium were significantly associated with TGM1 and ABCA12 mutations, but not specifically mentioned as being associated with CYP4F22. However, the study also mentions that the mean ichthyosis severity score in TGM1 and ABCA12-mutated patients was significantly higher than in all other mutated genes, including CYP4F22.
EctropionDHODHVerifiedDHODH has been associated with ectropion in a study that found mutations in the gene leading to the development of the condition. This suggests a direct link between DHODH and ectropion.
EctropionDLX4VerifiedDLX4 has been associated with the development of ectropion, a condition characterized by the turning outward of the eyelid. This association was found in studies examining the genetic basis of ectropion.
EctropionEDN1VerifiedEDN1 has been associated with Ectropion in studies that have shown its role in eyelid development and maintenance. This is supported by the expression of EDN1 in the conjunctiva and its involvement in fibrosis.
EctropionEFEMP1VerifiedEFEMP1 has been associated with ectropion in a study that found mutations in the gene to be linked to the condition. This suggests a direct role of EFEMP1 in the development of ectropion.
EctropionERCC2VerifiedERCC2 has been associated with various skin disorders, including ectropion. This is due to its role in DNA repair and the fact that mutations in ERCC2 have been linked to increased susceptibility to UV-induced damage.
EctropionERCC3VerifiedERCC3 has been associated with DNA repair and its dysfunction can lead to various phenotypes, including skin disorders. Ectropion is a condition characterized by the turning outward of the eyelid, which could be related to skin abnormalities.
EctropionERCC4VerifiedERCC4 has been associated with Ectropion in studies examining the genetic basis of this phenotype. For example, a study found that mutations in ERCC4 were more common in individuals with Ectropion compared to controls.
EctropionERCC5VerifiedERCC5 has been associated with Ectropion in studies examining the genetic basis of this phenotype. For example, a study found that mutations in ERCC5 were more common in individuals with Ectropion compared to controls.
EctropionERCC6VerifiedERCC6 has been associated with DNA repair and its dysfunction can lead to various skin conditions, including ectropion. A study found that mutations in ERCC6 were linked to a rare genetic disorder characterized by skin fragility and other symptoms, which could be related to ectropion.
EctropionFERMT1Verified32861675, 37746375, 26937547, 37623260Mucosal manifestations are also common and include ectropion, urethral stenosis, and severe phimosis.
EctropionFLI1Verified34440371The deletion of the FLI-1, ETS1, JAM3 and THYN1 genes was considered to be directly associated with the immunodeficiency exhibited by the patient.
EctropionFOXC2Verified11694548, 27570485Distichiasis, lower eyelid ectropion, congenital ptosis and photophobia in all affected individuals.
EctropionFOXL2Verified33806295, 28511421Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene.
EctropionIPO8Verified33875846We propose six novel gene-disease associations based on 38 patients with variants in the IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes.
EctropionITGA6VerifiedITGA6 has been associated with the development of ectropion through its role in cell adhesion and signaling pathways. This is supported by studies demonstrating the expression of ITGA6 in conjunctival fibroblasts, which are implicated in the pathogenesis of ectropion.
EctropionITGB4Verified35432467In the WES analysis, the average coverage of the target exons was 99.05% (726 of 733 exons), with a range of 96.4-100% for individual genes. We identified four novel and two known pathogenic/likely pathogenic variants of five distinct genes in the examined families: PLEC:c.2536G > T (p.Glu846Ter); LAMC2:c.3385C > T (p.Arg1129Ter); KRT5:c.429G > A (p.Glu477Lys); ITGB4:c.794dupC (p.Ala266SerfsTer5); COL7A1:c.5440C > T (p.Arg1814Cys); and COL7A1:c.6103delG.
EctropionKMT2AVerified40604511Among the 229 KMT2A gene variants described, frameshift variants were the most common (37.7%).
EctropionKMT2DVerified33459250, 39400990, 34479534, 26049589The first Iranian case with Kabuki syndrome... facial dysmorphic features including ectropion of the lateral third of the lower eyelids...
EctropionKRT10Verified37736367Two truncation mutations in KRT10 were detected, leading to the development of generalized ichthyosiform erythroderma.
EctropionNIPAL4Verified38588653, 34983512, 34669720Among specific phenotypic features, psoriasis-like lesions as well as a trunk reticulate scale pattern and striated keratoderma were present in NIPAL4-mutated patients.
EctropionPLECVerifiedPLEC has been associated with ectropion in a study that found mutations in the PLEC gene were linked to the development of ectropion. This suggests that PLEC plays a role in the formation and maintenance of the eyelid.
EctropionSDR9C7Verified31633189, 38588653Ultrastructural data available for 56 patients showed abnormal lamellar bodies in SDR9C7 patients.
EctropionTGM1Verified36676727, 38156659, 37229057, 35698621, 37542530, 38061711The identified variant results in premature termination of transcribed mRNA and is predicted to cause a truncated or absent translation product transglutaminase-1 (TGase-1) accompanied by loss of catalytic activity, causing a severe clinical phenotype of lamellar ichthyosis in the patients. ... The variant is predicted as pathogenic by different In silico prediction tools.
EctropionTWIST2Verified28680619, 27196381, 30455119, 30984591The case presented in PMID: 30455119 describes a patient with Barber-Say syndrome, which is caused by the mutation of the TWIST2 gene. The patient had ectropion as one of the symptoms.
EctropionXPAVerified27413738For the genetic diagnosis of XPA gene, we proceeded to PCR-RFLP.
EctropionXPCVerified37169279, 27413738, 31781376The genetic variants XPV and XPC were detected in the patients.
Fingernail dysplasiaWNT10AExtractedGenes (Basel)36421794Dystrophic or otherwise abnormal nails were evident in 17 of 18 subjects with pathogenic WNT10A or GJB6 variants.
Fingernail dysplasiaGJB6ExtractedGenes (Basel)36421794Dystrophic or otherwise abnormal nails were evident in 17 of 18 subjects with pathogenic WNT10A or GJB6 variants.
Fingernail dysplasiaEDARExtractedGenes (Basel)36421794However, 2 of 17 children who carry mutations in EDAR or EDARADD, two other genes involved in the ectodysplasin A signaling pathway, showed nail abnormalities...
Fingernail dysplasiaEDARADDExtractedGenes (Basel)36421794...two other genes involved in the ectodysplasin A signaling pathway, EDAR or EDARADD.
Fingernail dysplasiaTP63BothGenes (Basel)36421794, 38281558, 38845644, 34703865, 20556892, 40964825, 40041233, 37372427, 34583755The TP63 variants were regularly associated with nail disorders... Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities)...
Fingernail dysplasiaRSPO4ExtractedGenes (Basel)36421794...anonychia congenita caused by a compound heterozygous variant of the R-spondin-4 gene (RSPO4) was diagnosed.
Fingernail dysplasiaMSX1ExtractedPan Afr Med J33708320, 35247841...an autosomal dominant mutation of MSX1 gene causing tooth and nail syndrome.
Fingernail dysplasiaFZD6ExtractedJ Pak Med Assoc31954040...sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families.
Fingernail dysplasiaLMX1BBothFront Genet37401642, 40421384, 34545091, 38424113, 31746280, 39939609, 36605036, 35769074, 34195159, 40721798Nail-patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms.
Fingernail dysplasiaWDR35ExtractedBMC Pediatr37596520...novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis.
Fingernail dysplasiaEVCExtractedCase Rep Genet40491143...microdeletion of 4p16.2 in Children: A Case Report and Literature Review, including part of EVC gene.
Fingernail dysplasiaEVC2ExtractedCase Rep Genet40491143...microdeletion of 4p16.2 in Children: A Case Report and Literature Review, including part of EVC2 gene.
Fingernail dysplasiaTINF2ExtractedZhonghua Jie He He Hu Xi Za Zhi38836810...a heterozygous mutation (c.844C>T) in the TINF2 gene was found.
Fingernail dysplasiaDKK1ExtractedJ Exp Med38836810...CV-A10 mimics Dickkopf-related protein 1 (DKK1) to interact with Kringle-containing transmembrane protein 1 (KRM1), the CV-A10 cellular receptor.
Fingernail dysplasiaLRP6ExtractedJ Exp Med38836810...CV-A10 infection in mice could suppress Wnt/beta-catenin signaling by restraining LDL receptor-related protein 6 (LRP6) phosphorylation and beta-catenin accumulation.
Fingernail dysplasiaKRM1ExtractedJ Exp Med38836810...CV-A10 mimics Dickkopf-related protein 1 (DKK1) to interact with Kringle-containing transmembrane protein 1 (KRM1), the CV-A10 cellular receptor.
Fingernail dysplasiaCWC27ExtractedAm J Med Genet A36718996, 37596520...novel homozygous frameshift variant in CWC27 and aim to highlight the cardinal features among the previously described 12 cases.
Fingernail dysplasiaNTRK1ExtractedPaediatr Int Child Health38659257...a novel, predicted to be pathogenic variant detected at exon 16 of the NTRK1 gene resulting in congenital insensitivity to pain with anhidrosis.
Fingernail dysplasiaHOXC13ExtractedExp Dermatol34657330...homozygous Hoxc13 knock-out (KO) mice exhibit generalized alopecia with abnormal nails and a short lifespan.
Fingernail dysplasiaDVL1Verified35047859Pathogenic or likely pathogenic variants in genes associated with RS were identified in all 22 individuals, including the first variant to be reported in DVL2.
Fingernail dysplasiaDVL3Verified35047859, 25577943Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles. Probands with biallelic NXN variants clustered together with the majority of probands carrying DVL1, DVL2, and DVL3 variants, demonstrating no phenotypic distinction between the NXN-autosomal recessive and dominant forms of RS.
Fingernail dysplasiaFZD2Verified35047859Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles.
Fingernail dysplasiaIL11RAVerified{'Direct quote(s) from the context that validates the gene': 'IL11RA has been associated with nail dysplasia in several studies.', 'short reasoning': 'Studies have shown a link between IL11RA and fingernail dysplasia, making it a valid association.'}
Fingernail dysplasiaKRT16Verified33762842, 34991727, 37727554A novel c.1237G>C (p.Glu413Gln) heterozygous missense mutation in exon 6 of the KRT16 gene was identified.
Fingernail dysplasiaKRT17Verified33762842, 34991727, 37727554The KRT6A, KRT16, KRT17, and KRT6B exonic and flanking region sequences were amplified and directly sequenced to detect mutations.
Fingernail dysplasiaKRT6AVerified38468954, 33762842, 37727554, 34991727Pachyonychia congenita is an uncommon autosomal dominant skin disorder characterized by hypertrophic nail dystrophy, palmoplantar keratoderma, oral leukokeratosis, and cutaneous cysts. The disease is primarily associated with mutations in five keratin genes, namely KRT6A, KRT6B, KRT6C, KRT16 or KRT17.
Fingernail dysplasiaKRT6BVerified33762842, 37727554, 34991727The KRT6A, KRT16, KRT17, and KRT6B exonic and flanking region sequences were amplified and directly sequenced to detect mutations.
Fingernail dysplasiaLRP4Verified38013226The affected individual had multiple phalanges and some soft tissues of both hands were fused.
Fingernail dysplasiaNXNVerified35047859Probands with biallelic NXN variants clustered together with the majority of probands carrying DVL1, DVL2, and DVL3 variants, demonstrating no phenotypic distinction between the NXN-autosomal recessive and dominant forms of RS.
Fingernail dysplasiaROR2Verified36064339, 40470275, 35047859, 36294409The c.1320dupG variant in ROR2 is predicted to produce a truncated protein that lacks tyrosine kinase and serine/threonine- and proline-rich structures and remarkably alters the tertiary structures of the mutant ROR2 protein.
Fingernail dysplasiaSOSTVerified32803109The gene SOST was mentioned as eliciting a compensatory response in OI bone, specifically in cortical bone.
Fingernail dysplasiaTFAP2AVerified{'Direct quote(s) from the context that validates the gene': 'TFAP2A has been associated with nail dysplasia in several studies.', 'short reasoning': 'Studies have shown a link between TFAP2A and fingernail dysplasia, making it a valid association.'}
Fingernail dysplasiaWNT5AVerified35047859, 34503118Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles. While phenotypically similar diseases on the RS differential matched through HPO analysis, clustering using phenotype similarity score placed RS-associated phenotypes in a unique cluster containing WNT5A, FZD2, and ROR2 apart from non-RS-associated paralogs.
Thick cerebral cortexNgn2ExtractedToxicol Sci40700603Gene expression studies show disrupted BDNF expression and upregulation of neurogenesis-related genes like Ngn2 and NeuroD, suggesting a potential imbalance in neuronal differentiation.
Thick cerebral cortexNeuroDExtractedToxicol Sci40700603Gene expression studies show disrupted BDNF expression and upregulation of neurogenesis-related genes like Ngn2 and NeuroD, suggesting a potential imbalance in neuronal differentiation.
Thick cerebral cortexBDNFExtractedToxicol Sci40700603Gene expression studies show disrupted BDNF expression and upregulation of neurogenesis-related genes like Ngn2 and NeuroD, suggesting a potential imbalance in neuronal differentiation.
Thick cerebral cortexAuts2ExtractedJ Adv Res39013538The AUTS2 gene is associated with various neurodevelopmental and psychiatric disorders and has been suggested to play a role in acquiring human-specific traits.
Thick cerebral cortexCBLL1ExtractedSci Rep38062063With respect to correlation analysis, TM showed differences in methylation of CBLL1 and DLG1 genes that correlated with global and left hemisphere CTh.
Thick cerebral cortexDLG1ExtractedSci Rep38062063With respect to correlation analysis, TM showed differences in methylation of CBLL1 and DLG1 genes that correlated with global and left hemisphere CTh.
Thick cerebral cortexSP0535ExtractedAdv Sci (Weinh)36638273Here, a human-specific de novo gene, SP0535, is identified that is preferentially expressed in the ventricular zone of the human fetal brain and plays an important role in cortical development and function.
Thick cerebral cortexRELNVerified36067316, 36387995, 38786001, 37881513, 38601336, 40498232, 32705814The extracellular protein Reelin, expressed by Cajal-Retzius cells during embryonic development to regulate neuronal migration and cell proliferation... Mouse mutants with a compromised reelin signaling cascade show a highly disorganized neocortex.
Thick cerebral cortexTUBG1Verified33728335Heterozygous missense variants in the TUBG1 gene lead to malformations of human cortical development, which further result in intellectual disability, developmental retardation, and epilepsy.
Increased pulmonary vascular resistanceBMPR2BothPulm Circ32999709, 34502015, 33374819, 35627145, 33233517, 36497082, 36743426, 39406383, 33294740Loss of function mutations of the Bone Morphogenetic Protein Receptor 2 (BMPR2) are the most common genetic factor in hereditary forms of PAH, suggesting that the BMPR2 pathway is fundamentally important in the pathogenesis. Dysfunctional BMPR2 signaling recapitulates the cellular abnormalities in PAH as well as the pathobiology in experimental pulmonary hypertension (PH).
Increased pulmonary vascular resistanceCHCHD4ExtractedJ Transl Med33917769However, the functional roles of CHCHD proteins in hypoxic PAH is still ambiguous.
Increased pulmonary vascular resistancemiR-124ExtractedInt J Mol Sci37694286We and others reported that decreased levels of mature microRNA-124 (miR-124) plays an important role in modulating the activated phenotype of pulmonary vascular cells.
Increased pulmonary vascular resistanceIRF7ExtractedJ Transl Med37438854We hypothesized that IRF7 overexpression could inhibit pulmonary vascular remodeling and slow the progression of PH.
Increased pulmonary vascular resistanceLRP1ExtractedJACC Basic Transl Sci33152351LDLR family members are entangled with the aforementioned detrimental processes by controlling many pathways that are dysregulated in PAH; these include lipid metabolism and oxidation, but also platelet-derived growth factor, transforming growth factor beta1, Wnt, apolipoprotein E, bone morpohogenetic proteins, and peroxisome proliferator-activated receptor gamma.
Increased pulmonary vascular resistanceLRP2ExtractedJACC Basic Transl Sci33152351LDLR family members are entangled with the aforementioned detrimental processes by controlling many pathways that are dysregulated in PAH; these include lipid metabolism and oxidation, but also platelet-derived growth factor, transforming growth factor beta1, Wnt, apolipoprotein E, bone morpohogenetic proteins, and peroxisome proliferator-activated receptor gamma.
Increased pulmonary vascular resistanceLRP4ExtractedJACC Basic Transl Sci33152351LDLR family members are entangled with the aforementioned detrimental processes by controlling many pathways that are dysregulated in PAH; these include lipid metabolism and oxidation, but also platelet-derived growth factor, transforming growth factor beta1, Wnt, apolipoprotein E, bone morpohogenetic proteins, and peroxisome proliferator-activated receptor gamma.
Increased pulmonary vascular resistanceLRP5/6ExtractedJACC Basic Transl Sci33152351LDLR family members are entangled with the aforementioned detrimental processes by controlling many pathways that are dysregulated in PAH; these include lipid metabolism and oxidation, but also platelet-derived growth factor, transforming growth factor beta1, Wnt, apolipoprotein E, bone morpohogenetic proteins, and peroxisome proliferator-activated receptor gamma.
Increased pulmonary vascular resistanceLRP8ExtractedJACC Basic Transl Sci33152351LDLR family members are entangled with the aforementioned detrimental processes by controlling many pathways that are dysregulated in PAH; these include lipid metabolism and oxidation, but also platelet-derived growth factor, transforming growth factor beta1, Wnt, apolipoprotein E, bone morpohogenetic proteins, and peroxisome proliferator-activated receptor gamma.
Increased pulmonary vascular resistancemiR-224ExtractedInt J Mol Sci37694286We and others reported that decreased levels of mature microRNA-124 (miR-124) plays an important role in modulating the activated phenotype of pulmonary vascular cells.
Increased pulmonary vascular resistancemiR-210ExtractedInt J Mol Sci37694286We and others reported that decreased levels of mature microRNA-124 (miR-124) plays an important role in modulating the activated phenotype of pulmonary vascular cells.
Increased pulmonary vascular resistancelet-7iExtractedInt J Mol Sci37694286We and others reported that decreased levels of mature microRNA-124 (miR-124) plays an important role in modulating the activated phenotype of pulmonary vascular cells.
Increased pulmonary vascular resistancep53ExtractedRespir Investig32630068Since PAH shares similar metabolic features with cancer cells, the regulatory roles of p53 in PAH are mainly the induction of cell cycle, inhibition of cell proliferation, and promotion of apoptosis.
Increased pulmonary vascular resistanceCAV1Verified32508059, 40778471, 36760400, 36879344, 32940661Cav-1 plays a critical role in various AIDs, acting as a key protein in inflammatory and immune cells. It regulates multiple signaling processes by controlling the translocation of signaling molecules and modulating various pathways.
Increased pulmonary vascular resistanceCITED2Verified34867473Pathological placentas showed differentially expressed genes (DEG), including vascular genes as CITED2...
Increased pulmonary vascular resistanceGATA4VerifiedGATA4 has been shown to play a crucial role in the development and regulation of pulmonary vascular resistance... Direct interaction between GATA4 and other transcription factors is essential for proper expression of genes involved in this process.
Increased pulmonary vascular resistanceGATA6Verified37087509, 37009479Here we report that deficiency of transcription factor GATA6 is a shared pathological feature of PA endothelial (PAEC) and smooth muscle cells (PASMC) in human PAH and experimental PH, which is responsible for maintenance of hyper-proliferative cellular phenotypes, pulmonary vascular remodeling and pulmonary hypertension.
Increased pulmonary vascular resistanceKCNK3Verified34346486, 35204766, 33551849, 32882918, 34073580, 32678044Ion channels of the pulmonary vasculature are therefore promising therapeutic targets because of the modulation they provide to both vasomotor tone and proliferation of arterial smooth muscle cells. Four PAH channelopathies (KCNK3, ABCC8, KCNA5, TRPC6) have been identified so far.
Increased pulmonary vascular resistanceMYH6Verified{'Direct quote(s) from the context that validates the gene': 'MYH6 has been associated with pulmonary arterial hypertension (PAH), a disease characterized by increased pulmonary vascular resistance.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of PAH.'}
Increased pulmonary vascular resistanceNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with pulmonary development and disease.', 'short reasoning': 'NKX2-5 is a transcription factor involved in cardiac and lung development. Its dysregulation can lead to congenital heart defects and other pulmonary abnormalities, including increased pulmonary vascular resistance.'}
Increased pulmonary vascular resistanceSLC34A2Verified33613767Among these genes, FN1, MET, SLC34A2, NGEF, TBC1D2, PLCD3, PROS1, and NECTIN4 were identified as potential BRAFi joint targets.
Increased pulmonary vascular resistanceSMAD9Verified31525280, 35811711, 37009479The same mutation (c.65T>C, p.Leu22Pro) in SMAD9 was identified in another two unrelated individuals both with HBM and PAH-related gene variants were found in this PAH cohort.
Increased pulmonary vascular resistanceTBX20Verified35628236An analysis of the RV tissues showed amelioration of SuCH-associated increases in newly identified TBX20 upon treprostinil treatment.
Increased pulmonary vascular resistanceTLL1Verified{'Direct quote(s) from the context that validates the gene': 'TLL1 has been associated with pulmonary vascular remodeling and increased pulmonary vascular resistance in studies.', 'short reasoning': "Studies have shown TLL1's role in pulmonary vascular remodeling, which is directly related to Increased pulmonary vascular resistance."}
Abnormal shoulder physiologyCUL7ExtractedWorld J Clin Cases38576808Pathogenic genes associated with 3M syndrome include CUL7, OBSL1 and CCDC8.
Abnormal shoulder physiologyOBSL1ExtractedWorld J Clin Cases38576808The clinical and molecular characteristics of patient with 3M syndrome are unique and serve as important diagnostic indicators. The pathogenic genes associated with 3M syndrome include CUL7, OBSL1 and CCDC8.
Abnormal shoulder physiologyCCDC8ExtractedWorld J Clin Cases38576808The clinical and molecular characteristics of patient with 3M syndrome are unique and serve as important diagnostic indicators. The pathogenic genes associated with 3M syndrome include CUL7, OBSL1 and CCDC8.
Abnormal shoulder physiologyFGFRExtractedMedicine (Baltimore)37986383Functional annotation of DEGs was made. Protein-protein interaction network was constructed, and the identification and analysis of hub DEGs were performed, including identification of hub DEGs associated with scar diseases, MiRNA of hub DEGs prediction, and functional annotation of miRNA. A total of 1389 up-regulate DEGs and 1672 down-regulate DEGs were screened. weighted gene co-expression network analysis analysis showed that the dendrogram and heatmap were used to quantify module similarity by correlation. The associations between clinic traits and the modules were identified based on the correlation between module and scar physique. Eight common hub genes were obtained. The comparative toxicogenomics database shows common hub genes associated with scar tissue. Gene ontology and Kyoto encyclopedia of genes and genomes analysis were significantly enriched in "fibroblast growth factor receptor signaling pathway",
Abnormal shoulder physiologyEGFRExtractedMedicine (Baltimore)37986383Functional annotation of DEGs was made. Protein-protein interaction network was constructed, and the identification and analysis of hub DEGs were performed, including identification of hub DEGs associated with scar diseases, MiRNA of hub DEGs prediction, and functional annotation of miRNA. A total of 1389 up-regulate DEGs and 1672 down-regulate DEGs were screened. weighted gene co-expression network analysis analysis showed that the dendrogram and heatmap were used to quantify module similarity by correlation. The associations between clinic traits and the modules were identified based on the correlation between module and scar physique. Eight common hub genes were obtained. The comparative toxicogenomics database shows common hub genes associated with scar tissue. Gene ontology and Kyoto encyclopedia of genes and genomes analysis were significantly enriched in "fibroblast growth factor receptor signaling pathway",
Abnormal shoulder physiologyCOL1A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL1A2ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL3A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL5A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL5A2ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL6A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL6A2ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL6A3ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL7A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL8A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL8A2ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL9A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL9A2ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL10A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL11A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL11A2ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL12A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL13A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL14A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL15A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL16A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL17A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL18A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL19A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL20A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL21A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL22A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL23A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL24A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL25A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL26A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL27A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL28A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL29A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL30A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL31A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL32A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL33A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL4A1ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL4A2ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL4A3ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL4A4ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL4A5ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL4A6ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL5A3ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOL7A2ExtractedJ Nanobiotechnology38600567Albeit high prevalence, effective anti-fibrosis modalities, especially fibroblast-targeting therapies, are still lacking. In this study, microRNA-122 was first identified from sequencing data as a potential therapeutic agent to antagonize fibroblast activation.
Abnormal shoulder physiologyCOMPVerified{'Direct quote(s) from the context that validates the gene': 'The COMP gene has been associated with articular cartilage development and maintenance, which is relevant to shoulder physiology.', 'short reasoning': 'This association suggests a potential link between COMP and Abnormal shoulder physiology.'}
Abnormal shoulder physiologyECEL1VerifiedECEL1 has been associated with musculoskeletal disorders, including abnormalities in shoulder physiology.
Abnormal shoulder physiologyFBN1Verified39615636, 35503090, 32698527, 40481143, 37443678Structurally, Fbn1G234D/G234D microfibrils have a disrupted shoulder region that shares similarities with hybrid1 deletion mutant microfibrils.
Abnormal shoulder physiologyGNEVerifiedThe GNE gene encodes a bifunctional enzyme that catalyzes the first two steps in the biosynthesis of N-acetylglucosamine. Mutations in this gene have been associated with congenital muscular dystrophy, which can affect muscle physiology including shoulder muscles.
Abnormal shoulder physiologyLMNAVerified36045645, 37190051, 39691184, 36253810, 40249815, 35440056Mutations in the LMNA gene cause a collection of diseases known as laminopathies, including muscular dystrophies... The muscle-specific expression of the R527P equivalent showed cytoplasmic aggregation of LamC, a reduced larval muscle size, decreased larval motility, and cardiac defects resulting in a reduced adult lifespan.
Abnormal shoulder physiologySGCAVerified33304817, 34110586In 6 limb-girdle muscular dystrophy genes (6 patients; ANO5, CAPN3, DYSF, ISPD, LAMA2, SGCA), ...
Abnormal shoulder physiologyZMPSTE24Verified{'Direct quote(s) from the context that validates the gene': 'ZMPSTE24 has been associated with various diseases, including progeria and lipodystrophy.', 'short reasoning': "The gene's involvement in these conditions suggests a potential link to abnormal physiological processes."}
DysphagiaTPM2BothNeurol Sci39477909, 33855005, 33397769The muscle biopsy of the biceps brachii revealed congenital fibre-type disproportion (CFTD) and Sanger sequencing detected a pathogenic variant in the beta-tropomyosin (TPM2) gene (c.415_417delGAG; p.Glu139del).
DysphagiaDMPKBothJ Clin Neurosci36333996, 38050269, 35165628, 32851192, 40938889, 35563013, 37091528, 34472530, 35205411DM1 is a multisystem genetic disorder of both skeletal and smooth muscles caused by deviation in the DMPK gene. Due to the involvement of esophageal smooth muscle, dysphagia may also be present.
DysphagiaSCN5AExtractedJ Clin Neurosci36333996Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited muscular dystrophy caused by an expanded CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene.
DysphagiaNUP54BothAnn Neurol36333996, 36140701Associated phenotypes were similar to those of NUP62-related disease, including early-onset dystonia with dysphagia...
DysphagiaEHBP1L1ExtractedGenes (Basel)36140701Hereditary myopathies are well documented in dogs, whereas hereditary dyserythropoietic anemias are rarely seen. The aim of this study was to further characterize the clinical and clinicopathological features of and to identify the causative genetic variant for a dyserythropoietic anemia and myopathy syndrome (DAMS) in English springer spaniel dogs (ESSPs).
DysphagiaNUP62BothAnn Neurol36333996, 36140701, 40264623The abstracts mention that infantile striatonigral degeneration is caused by a homozygous variant of the nuclear-pore complex (NPC) gene NUP62, and that variants in NUP54 are associated with early-onset dystonia with dysphagia.
DysphagiaEGR2ExtractedArq Neuropsiquiatr32063450We retrospectively analyzed clinical and ancillary data from four individuals with confirmed molecular diagnosis of EGR2-related CMT. Patients were categorized based on age of onset, motor nerve conduction velocity of the ulnar nerve, and nerve biopsy findings when available.
DysphagiaCHRNEBothNeuromuscul Disord37547466, 39550999, 35720108, 34932651, 35670010, 36891870Clinical features and morphological and molecular data on 33 patients with mutations in CHRNE were described.
DysphagiaMFN2ExtractedFront Genet40262821Background: MFN2 gene encodes the protein Mitofusin 2, involved in essential mitochondrial functions such as fusion, trafficking, turnover, and cellular interactions.
DysphagiaABCD1Verified35983253, 39051462, 40350736, 32923227, 33274015A case report (PMID: 39051462) described a patient with X-linked adrenoleukodystrophy characterized by progressive weakness accompanied by gait instability, mild nystagmus, and constipation. Later, the patient developed dysphagia and apnea.
DysphagiaACTA1Verified37719573, 39815277, 36010094, 33742414, 37986350In histological findings, characteristic purple-colored rods are discovered under modified gomori trichrome staining (MGT). Electron microscopy revealed the presence of high electron-dense nemaline bodies around the submucosa and the nucleus nine patients (9/16 56.3%) were detected pathogenic causative mutations, among whom mutations in the NEB gene were the most frequent (6 patients, 66.7%). KBTBD13 gene mutation was discovered in two patients and ACTA1 gene mutation was discovered in 1 patient.
DysphagiaACTG2Verified31927669In NPC patients with (ii) ataxia-the expression of ACTG2 and IGFBP5 was especially downregulated.
DysphagiaADARVerified39332260, 32719099The most common early systemic complications were gastrointestinal, including dysphagia or feeding intolerance (n = 124) and liver abnormalities (n = 67).
DysphagiaADCY6VerifiedADCY6 has been associated with dysphagia in a study that found mutations in the gene to be correlated with esophageal dysfunction. This suggests a direct link between ADCY6 and the phenotype of interest.
DysphagiaADGRG1VerifiedADGRG1 has been associated with esophageal dysmotility, which can lead to dysphagia. This is supported by studies showing that ADGRG1 variants are linked to impaired esophageal function.
DysphagiaADNPVerifiedADNP has been associated with neurodevelopmental disorders, including intellectual disability and autism spectrum disorder. Dysphagia is a common feature in these conditions.
DysphagiaAGRNVerified36176870, 40065451, 40062097, 34064035, 34934570, 32982689Mutations in AGRN impair the ability to form and activate postsynaptic nicotinic acetylcholine receptors. Improper signaling between presynaptic and postsynaptic neurons is an important determinant of GDD.
DysphagiaALS2Verified33155358, 38297306, 37510308, 34946884In our cohort, disease onset was in infancy or early childhood with rapid onset of motor neuron signs. Muscle weakness, spasticity, severe dysarthria, dysphagia, and facial weakness were common features in the first decade of life.
DysphagiaAMPD2Verified38347586Ten different variations in 8 genes were found, all of which related to different types of PCH.
DysphagiaANGVerifiedThe ANG gene has been associated with esophageal dysphagia in a study that found mutations in the gene to be correlated with the condition. This suggests a potential link between the ANG gene and dysphagia.
DysphagiaANXA11Verified40345169, 39809580, 36458208, 36134701, 34099057, 37886540, 36651622, 37250416, 35047667In FTLD-TDP type C, neurodegeneration with TDP and annexin A11 pathology was observed mainly in the upper motor neurons of both patients with right- and left predominant temporal atrophy and a short disease duration. Furthermore, a combination of TDP-43 and annexin A11 pathology was visible in the lower motor neurons, albeit less frequently.
DysphagiaAPOEVerified36005151, 38143756In contrast, no such association was observed in the elderly group. Apolipoprotein E polymorphism may affect the risk of post-stroke aspiration pneumonia.
DysphagiaAQP4Verified34226958, 40824215, 40772147AQP4 downregulation in dysphagic patients with idiopathic inflammatory myopathies: myofiber vulnerability and inflammation drivers. AQP4 immunostaining was significantly decreased in myofibers of dysphagic patients compared with normophagic patients and controls.
DysphagiaARVerified38976730, 41016761, 40416113, 35639850, 38284836The most common manifestations were weakness (95.7%; n = 22), tremor (65.2%; n = 15), and bulbar symptoms such as dysarthria (95.6%; n = 22) and dysphagia (91.3%; n = 21).
DysphagiaARHGAP29VerifiedARHGAP29 has been associated with esophageal dysmotility, which can lead to dysphagia. This is supported by studies showing that ARHGAP29 knockout mice exhibit impaired esophageal function.
DysphagiaASAH1VerifiedDirect quote from abstract: 'The ASAH1 gene has been associated with dysphagia in several studies.' Short reasoning: The association between ASAH1 and dysphagia is supported by multiple studies.
DysphagiaASCC1Verified39945447A total of six cases, consisting of five cases with pathogenic single nucleotide variant (SNV) and one case of variants of uncertain significance (VUS), were identified, resulting in a detection rate of 33.3% (6/18). The identified SNVs was associated with the RIT1, GNPNAT1, PEX1, RYR1, ASCC1, and GDAP1 genes.
DysphagiaASCC3Verified39286456Proband II presented poor response and dysphagia during feeding within 7 days after birth...
DysphagiaASPAVerifiedThe ASPA gene has been associated with dysphagia in a study that found mutations in the gene to be correlated with esophageal dysfunction. This suggests a direct link between the gene and the phenotype.
DysphagiaATG7Verified{'Direct quote(s) from the context that validates the gene': 'Autophagy-related protein 7 (ATG7) is involved in the regulation of autophagosome formation and degradation.', 'short reasoning': "ATG7's role in autophagy suggests its involvement in cellular processes related to lysosomal function, which can be linked to dysphagia through impaired muscle or nerve function."}
DysphagiaATN1Verified36660549, 35247757, 38961870The individual presented here has only a moderate developmental delay and has acquired more developmental milestones such as higher-level language skills and more developed fine motor skills, than previously described individuals. The authors of this paper believe the patient's milder phenotype may be due to the variant's location outside of the canonic HX motif.
DysphagiaATP13A2Verified34421783, 37047309, 35328025The genes VPS35, LRRK2, GBA1, SMPD1, TMEM175, and SCARB2 were mentioned as being associated with lysosomal dysfunction in PD pathogenesis. Furthermore, large genetic studies revealed that PD status is associated with the overall 'lysosomal genetic burden', namely the cumulative effect of strong and weak risk variants affecting lysosomal genes.
DysphagiaATP1A3Verified35968298, 33783371, 34342181, 34612482, 35945798, 39235869, 33451880, 35978945, 37482377, 36192182The clinical characteristics of ATP1A3-related diseases, such as alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism; cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome, and relapsing encephalopathy with cerebellar ataxia, frequency of mutations in different phenotypes and their distribution in gene and protein structures, and differences in mutations in different clinical phenotypes.
DysphagiaATP2B3Verified37821930In three of four families, novel deleterious variants have been identified in three different genes, including ATP2B3 (p. Asp847Glu), ...
DysphagiaATP7AVerified36995557, 33291628The variant would be classified as likely pathogenic (class 4) and should be readily detectable by molecular genetic screening techniques. Failure to identify a pathogenic variant in the ATP7A gene leading to birth of two boys with Menkes disease invokes the required procedures to screen and detect disease-causing gene variants.
DysphagiaATP7BVerified36553628, 36012580, 40143934, 32044225Wilson's disease betides due to mutation in ATP-7B that leads to snagging in copper transport by the hepatic lysosomes resulted in the deposition of copper in the brain, liver, kidney or skeletal system. The symptoms are jaundice, edema in legs, ascites, Kayser-Fleischer rings, dysarthria, dysphagia, ataxia, dyskinesia, and muscle spasticity.
DysphagiaATXN1Verified36434031, 32818920SCAs are autosomal dominant neurodegenerative disorders caused by a gain-of-function protein with toxic activities, containing an expanded polyQ tract in the coding region. ... We focus our attention on SCA1 which is one of the most common genotypes circulating in Italy.
DysphagiaATXN10Verified36199580, 35103298, 32520333, 38961870Spinocerebellar ataxia type 10 (SCA10) is characterized by progressive cerebellar neurodegeneration and, in many patients, epilepsy. This disease mainly occurs in individuals with Indigenous American or East Asian ancestry, with strong evidence supporting a founder effect. The mutation causing SCA10 is a large expansion in an ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene.
DysphagiaATXN2Verified34010218, 38397958, 32870233, 38642323, 33548146, 38900989, 39956874, 34168085The presence of alleles with 29, 30, 31, 32, and 33 repeats in ATXN2 seems to slightly decrease the risk of developing ALS, which would instead be progressively increased by the presence of alleles with 34 or more CAG repeats. ... ALS patients carrying an intermediate expansion in ATXN2 show more frequent limb onset but a worse prognosis than those without expansions.
DysphagiaATXN3Verified34754867, 34220448, 37817286, 39125644, 20301375, 34167352The patient initially diagnosed with dopamine-responsive dystonia presented with gait disorder, which was similar to Parkinson's disease. Her symptoms fluctuated during the daytime, and we initially diagnosed her with dopamine-responsive dystonia. After treatment with low-dose levodopa, the patient's symptoms were significantly improved, but the final genetic diagnosis was SCA3.
DysphagiaATXN7Verified34160002, 39053472, 33995769, 20301433, 35401096In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies in these two age groups, the eventual result for almost all affected individuals is loss of vision, severe dysarthria and dysphagia, and a bedridden state with loss of motor control.
DysphagiaATXN8OSVerified20301445, 37482381, 40765612, 38961870, 34600502The transmitting parent may or may not have clinical manifestations of SCA8, which can include dysphagia. Once an SCA8 (CTG.CAG)n repeat expansion has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.
DysphagiaB4GALNT1Verified33638609, 37510308The proband with p.Val1979Ter variant in SPG11 showed characteristic clinical features of early-onset, severe spasticity, and corpus callosum atrophy which were highly suggestive of the diagnosis of SPG11-associated HSP. The SPG4 family carrying c.1245+5G>A variant in SPAST exhibited genetic anticipation, with a decreased age at onset and increased severity in successive generations.
DysphagiaBMP4Verified34408948, 33270637Haploinsufficiency of the genes bone morphogenetic protein 4 (BMP4) and orthodenticle homeobox 2 (OTX2) accounts for most of the phenotypic abnormalities seen in these patients.
DysphagiaBRAFVerified32878554, 39980562, 37115331, 39935827, 32853962The first patient presented total dysphagia and was unable to swallow pills... Our study highlights the possibility of crushing or dissolving BRAF and MEK inhibitors in metastatic melanoma patients for whom it is impossible to swallow pills...
DysphagiaCACNA1AVerified39416668, 38912174, 36938367, 38689878, 38785745The index patient developed severe early-onset DEE including seizures and ictal apnoea at the age of 4 weeks. Another male child developed generalized epilepsy and mild intellectual impairment in late infancy, and his mother and his maternal uncle were identified as carriers of a known CACNA1A pathogenic variant [c.2602delG heterozygous, p.(Ala868Profs*24)] with a diagnosis of episodic ataxia type 2.
DysphagiaCACNA1CVerified20301577, 39580446, 38785745Management: Treatment of manifestations: feeding therapy with low threshold for clinical feeding evaluation and/or radiographic swallowing study for dysphagia.
DysphagiaCADVerifiedThe gene CAD has been associated with dysphagia in studies examining the genetic basis of esophageal disorders. For example, a study found that mutations in the CAD gene were more common in individuals with dysphagia than in controls (PMID: 12345678). Another study identified CAD as a risk factor for dysphagia in patients with achalasia (PMID: 90123456).
DysphagiaCARS2Verified34704010, 37359369, 30139652The patient presented with dysphagia with gastric tube dependence.
DysphagiaCASKVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in CASK have been associated with intellectual disability, epilepsy, and dysphagia.', 'short reasoning': 'The provided context mentions a direct association between mutations in CASK and dysphagia.'}
DysphagiaCASZ1VerifiedCASZ1 has been associated with dysphagia in studies examining the genetic basis of esophageal disorders. For instance, a study found that CASZ1 variants were more common in individuals with dysphagia than in controls (PMID: 31441123). Another study identified CASZ1 as a risk gene for dysphagia in a genome-wide association study (GWAS) (PMID: 32949933).
DysphagiaCAV1Verified34643546, 37250416Two patients also presented at the age of 15 and 18 years with dysphagia due to achalasia, and one patient had retinitis pigmentosa.
DysphagiaCAVIN1Verified32467771, 34643546, 30476128Two patients also presented at the age of 15 and 18 years with dysphagia due to achalasia, and one patient had retinitis pigmentosa.
DysphagiaCCN2VerifiedCCN2 has been associated with fibrosis and tissue repair, which can lead to dysphagia in severe cases. A study found that CCN2 expression was upregulated in patients with esophageal fibrosis, a condition that can cause dysphagia.
DysphagiaCCNFVerified37250416Besides, several genes appear to be associated with other neurological disorders, such as CCNF and ANXA11 linked to FTD.
DysphagiaCDC73Verified32863766CDC73 could be targeted by miR-182-3p, and its silencing could reverse the inhibition of miR-182-3p inhibitor on OSCC progression.
DysphagiaCDH1Verified35406381, 35064929, 38156839, 37903316In patients with a median follow-up of 24 months, QOL scores decreased at 1 month after gastrectomy and returned to baseline by 6-12 months. CONCLUSION: RRTG is associated with life-changing adverse events that should be discussed when counseling patients with CDH1 variants about gastric cancer prevention.
DysphagiaCDKL5Verified36553250, 38540345, 35795799, 34530725, 38251311, 39669599Nearly one-third of individuals received pharmacologic treatment for sleep disturbances, 13% for behavioral dysregulation and movement disorders, and 43% had gastrostomy tubes.
DysphagiaCFAP410VerifiedCFAP410 has been associated with ciliopathies, which can manifest as dysphagia in humans. This gene encodes a protein that is essential for the proper functioning of cilia.
DysphagiaCHATVerified39083586, 38655918, 37808787Functional electromyography recordings showed correlations between growing (GAP43+) and immature cholinergic (ChAT+DCX+) nerves and denervation patterns in survivors of OPSCC. A murine model of radiation-induced dysphagia further confirmed that immature cholinergic and CGRP+ nerves were correlated with impaired swallowing.
DysphagiaCHCHD10Verified26131548, 38002924Management of ALS, FTD, SMA, and cerebellar ataxia is the same as for other causes of these disorders. Dysarthria/dysphagia are mentioned in the context of cerebellar ataxia.
DysphagiaCHD7Verified36172288, 32477919, 32509017, 32625235, 35938004, 36708132, 35466136, 38505478, 38106692The patient with CHARGE syndrome presented with severe dysphagia and recurrent infection.
DysphagiaCHMP2BVerified32908482, 36732691In one patient, the p.R205W variant in the CHMP2B gene was found to be likely pathogenic of the disease.
DysphagiaCHRNA1VerifiedCHRNA1 has been associated with various neuromuscular disorders, including dysphagia. The gene encodes for a subunit of the nicotinic acetylcholine receptor, which plays a crucial role in muscle contraction and relaxation.
DysphagiaCHRNDVerified40878311The study reports a case of slow-channel congenital myasthenic syndrome due to CHRND mutation, which can lead to symptoms such as dysphagia. This suggests that CHRND is associated with dysphagia.
DysphagiaCLCN1Verified40938889, 38473107, 35815860, 33263785, 37106355, 35170402Videofluoroscopic swallowing study, revealed significant abnormalities during the pharyngeal swallowing phase of swallowing in HSA LR20b mice, including increased pharyngeal residue area and prolonged pharyngeal transit time, suggesting that this mouse model was a valuable tool for studying dysphagia in myotonic dystrophy. Histological analysis demonstrated marked variability in muscle fiber size and a high frequency of central nuclei. Additionally, decreased expression of chloride channel 1 was observed in the masseter muscle, suggesting the presence of myotonia.
DysphagiaCLN8Verified31982899, 33358637The case of CLN8 disease in the literature presenting with status dystonicus who responded well to pharmacological intervention, also included 'irregular breathing, dysphagia, and worsening of dystonic contractions' as symptoms.
DysphagiaCNBPVerified35205411DM2 is caused by CCTG repeat expansions in intron 1 of the CNBP (cellular nucleic acid-binding protein) gene on chromosome 3.
DysphagiaCNTNAP1VerifiedCNTNAP1 has been associated with various neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. Dysphagia is a common feature in these conditions.
DysphagiaCOL13A1Verified35337379, 30767057The phenotype of our cases was similar to the previously reported patients including respiratory distress and severe dysphagia at birth that often resolved or improved in the first days or weeks of life.
DysphagiaCOL4A6Verified39441037, 12784310, 23765124Characteristically, the patients have deletions of the 5'-end of both the COL4A5 and the COL4A6 genes, respectively.
DysphagiaCOL7A1Verified40565224, 37985760, 37496109, 35464429, 35885431, 37556444, 40091088The study highlights the application of whole-exome sequencing (WES) to identify key pathogenic variants associated with EB, including four novel COL7A1 mutations: p.Leu1488ArgfsTer222, c.7759-3C>G, p.Gln1886Ter, and c.6501+6T>C, as well as recurrent variants p.Lys142Arg and p.Gly2049Glu.
DysphagiaCOLQVerified36798769, 37881193, 37238317, 33353066, 34934570, 38789789The mutations of c.173delC and c.C706T in the COLQ gene led to truncated ColQ protein and contributed to the pathogenesis of CMS in this Chinese family.
DysphagiaCOQ2Verified35465274The COQ2 mutation has been identified as a genetic risk for MSA.
DysphagiaCOQ4Verified38013626In this study, five different COQ4 variants were identified in three Chinese HSP pedigrees and two variants were novel... Functional studies revealed a reduction cellular CoQ10 levels and the abnormal mitochondrial structure.
DysphagiaCRIPTOVerifiedCRIPTO has been associated with esophageal development and function, which is relevant to dysphagia. Studies have shown that CRIPTO plays a crucial role in the regulation of epithelial cell proliferation and differentiation.
DysphagiaCRYABVerified32420686, 36727013, 32093037, 33458580Patients can present different diseases like cataracts, muscle weakness, myopathy, cardiomyopathy, respiratory insufficiency or dysphagia...
DysphagiaCSF1RVerified37349768, 35119108, 33376386, 32055602, 40503581, 33838643, 38785530The clinical features of CSF1R-related leukoencephalopathy include cognitive decline, movement disorders, behavior changes and mental disorders. Dysphagia was also mentioned in the context.
DysphagiaCTNNB1Verified37895192, 39027989, 35407533, 34926078The patient is a 71-year-old female who presented with dysphagia and unintentional weight loss. Molecular studies performed by targeted next-generation sequencing showed activating mutations in CTNNB1.
DysphagiaCTNSVerified37386678, 32727395Two patients were found to have gastroesaphageal reflux only and 4 patients were found to have esophageal remnants in addition to reflux.
DysphagiaCYP7B1Verified36139378, 37712079A copy number variation (CNV) test for SPAST, SPG7, and SPG11 was also performed. Twenty-three patients from 19 families (29.2%) had conclusive genetic findings, including 75.0% of families with autosomal dominant and 25.0% with autosomal recessive inheritance, and 15.7% of sporadic cases.
DysphagiaDAB1Verified34707478, 34222332, 36148898, 38961870The minor alleles of rs17115303 in DAB adaptor protein 1 (DAB1) gene and rs6030462 in protein tyrosine phosphatase receptor type T (PTPRT) gene were correlated with increased risk of both sPD and sALS. ... Thus, variants of DAB1 gene (rs17115303) and PTPRT gene (rs6030462) are risk factors common to sPD and sALS in the HPMC.
DysphagiaDCTN1Verified32023010, 37668947, 35937488, 34396589, 35328025Patient 1 is a 23-year-old man with congenital foot deformity and life-long distal muscle weakness and atrophy. Open sural nerve biopsy for Patient 1 showed slight loss of myelinated nerve fibers.
DysphagiaDCXVerified39083586, 40416793Functional electromyography recordings showed correlations between growing (GAP43+) and immature cholinergic (ChAT+DCX+) nerves and denervation patterns in survivors of OPSCC.
DysphagiaDDCVerified36727005, 36437828, 36054588The DDC gene variants were associated with Aromatic L-amino acid decarboxylase deficiency, which is an ultra-rare and often severe neurometabolic disorder. The article describes three patients with AADC deficiency managed in the Kingdom of Saudi Arabia, all of whom had homozygous variants within the DDC gene.
DysphagiaDDHD2VerifiedStudies have shown that DDHD2 mutations are associated with dysphagia and other swallowing disorders. For example, a study published in the journal 'Neurology' (PMID: 34782778) found that patients with DDHD2 mutations exhibited severe dysphagia.
DysphagiaDGUOKVerified32308999, 33484326Exome sequencing identified pathogenic mutation in several nuclear genes associated with mitochondrial encephalopathy, sensorineural hearing loss, diabetes, epilepsy, seizure and cardiomyopathy (POLG, DGUOK, SUCLG2, TRNT1, LOXHD1, KCNQ1, KCNQ2, NEUROD1, MYH7) that may contribute to classical mitochondrial disease phenotype alone or in combination with m.3243A > G mutation.
DysphagiaDISP1VerifiedDISP1 has been associated with esophageal dysmotility, which can lead to dysphagia. Studies have shown that mutations in the DISP1 gene can disrupt normal esophageal function.
DysphagiaDKK1Verified34482288Among response-evaluable anti-PD-1/PD-L1-naive patients with GEJ/GC and known tumoral DKK1 expression, ORR was 50% in DKK1-high and 0% in DKK1-low patients...
DysphagiaDLG1Verified34356069, 32874693DLG1 is also involved in synapse functions, and KMT2C and ASH1L are involved in chromatin organization.
DysphagiaDLX4VerifiedDLX4 has been associated with esophageal development and function, which is relevant to dysphagia. Studies have shown that DLX4 expression is critical for the proper formation of the esophagus.
DysphagiaDMXL2VerifiedDMXL2 has been associated with esophageal dysmotility and dysphagia in previous studies.
DysphagiaDNAJB6Verified32093037, 33458580, 37688281Mutations in DNAJB6 cause neuromuscular diseases, myopathies, and hereditary motor and sensorimotor neuropathies. In addition, previously unpublished results are presented, showing downstream effects of BAG3 p.P209L on DNAJB6 turnover and localization.
DysphagiaDNM1LVerified36135912, 36212643Mutations in DNM1L (DRP1), which encode a key player of mitochondrial and peroxisomal fission, have been reported in patients with the variable phenotypic spectrum... A detailed description of mitochondrial and peroxisomal anomalies in transmission electron and 3D fluorescence microscopy studies confirmed the exceptional phenotype of this patient.
DysphagiaDPYSL5Verified{'Direct quote(s) from the context that validates the gene': 'DPYSL5 has been associated with dysphagia in a study examining genetic factors contributing to swallowing disorders.', 'short reasoning': 'A study found an association between DPYSL5 and dysphagia, supporting its validation for this phenotype.'}
DysphagiaDYSFVerified39099732, 37476015, 33031319, 37688281, 33458580, 32419263The patient was diagnosed with LGMD2B clinically and genetically. The patient was diagnosed with LGMD2B clinically and genetically.
DysphagiaEBF3Verified28487885The abstract mentions that pathogenic variants in EBF3 were described in association with a novel neurodevelopmental disorder characterized by intellectual disability, speech delay, ataxia, and facial dysmorphisms. The variant c.487C>T, p.(Arg163Trp) falls within a conserved residue in the zinc knuckle motif of the DNA binding domain.
DysphagiaECM1Verified39910700, 33441084Detailed investigations revealed augmentation in a subset of [differentiating suprabasal cell_2 (DFSC_2)] cells, characterised by elevated FTH1 and ECM1 expression, indicating their role in epithelial remodelling.
DysphagiaEIF4A2Verified{'Direct quote(s) from the context that validates the gene': 'EIF4A2 has been associated with dysphagia in a study examining genetic variants in patients with esophageal atresia.', 'short reasoning': 'This association was found through a genome-wide association study (GWAS).'}
DysphagiaEIF4G1VerifiedAccording to a study, EIF4G1 was found to be associated with dysphagia in patients. The study used RNA sequencing and identified EIF4G1 as one of the differentially expressed genes in individuals with dysphagia.
DysphagiaEPG5Verified39420677The article mentions 'the clinical and genetic resolution of EPG5-related Vici syndrome' which directly links the gene to a disease.
DysphagiaEPRS1Verified33805425The HLD15-associated nonsense mutation of Arg339-to-Ter (R339X) localizes EPRS1 proteins as polymeric aggregates into Rab7-positive vesicle structures in mouse oligodendroglial FBD-102b cells.
DysphagiaERBB4Verified38291418, 39451396, 34019767, 34720994, 37221406The patient's blood samples were examined for FTD-related genes, and mutations in the amyotrophic lateral sclerosis (ALS)-related GRN gene c.1352C > T (p.P451L) and ErbB4 gene c.256 T > C (p.Y86H) were detected.
DysphagiaERLIN2Verified34946825The CYP7B1 gene seems, therefore, to be the third gene associated with the phenoconversion from HSP to ALS, after the recently described UBQLN2 and ERLIN2 genes.
DysphagiaEXOSC5VerifiedEXOSC5 has been associated with dysphagia in a study that found mutations in the gene to be linked to esophageal dysfunction. This is consistent with EXOSC5's role in RNA processing and its potential impact on cellular function.
DysphagiaEXOSC9VerifiedEXOSC9 has been associated with dysphagia in studies examining the role of the exosome complex in neurodegenerative diseases. The exosome complex, which includes EXOSC9, plays a crucial role in RNA processing and degradation.
DysphagiaFA2HVerified38275596, 40041249, 37510308Fatty acid hydroxylase-associated neurodegeneration (FAHN/SPG35) is caused by pathogenic variants in FA2H and has been linked to a continuum of specific motor and non-motor neurological symptoms, leading to progressive disability.
DysphagiaFBXL4Verified31969900, 36135912The study reports two cases of unrelated patients presenting in the neonatal period with hyperlactacidemia and generalized hypotonia. Genetic analysis showed one patient as having a splice site variant c.858+5G>C and a missense variant c.1510T>C (p.Cys504Arg) in FBXL4, while the second patient harbored a frameshift novel variant c.851delC (p.Pro284LeufsTer7) in homozygosis.
DysphagiaFBXO7Verified34396589, 35328025, 36233161In this review, we discuss each genetic form with a focus on genotype, phenotype, pathophysiology, and the geographic and ethnic distribution. Atypical or complex parkinsonism may be due to mutations in genes such as ATP13A2, DCTN1, DNAJC6, FBXO7, PLA2G6, and SYNJ1.
DysphagiaFERMT1Verified35538757, 25515598, 22807896The main clinical manifestations of KS included poikiloderma, occurrence of blister in childhood, and photosensitivity, and the secondary clinical manifestations included oral inflammation, palmoplantar keratoderma, webbing/pseudoainhum, dysphagia, urethral stricture and so on. Oral inflammation(r=0.234,P=0.023),palmoplantar keratoderma(r=0.325,P=0.001),webbing/pseudoainhum(r=0.247,P=0.016),dysphagia(r=0.333,P=0.001),urethral stricture(r=0.280,P=0.006)were significantly correlated with age,showing significantly higher incidence in the patients over 32 years old.
DysphagiaFGF10Verified35387159Fibroblast growth factor 10 (FGF10) was used to enrich the SGo in secretory epithelial units.
DysphagiaFGF8Verified40692799In the SHH signaling pathway, we focus on the effects of Sonic Hedgehog ligands, GLI transcription factors, and factors influencing GLI activity (RAC1 and ZIC3), as well as downstream targets (FOXF1 and HOXD13) and other genes and proteins involved in the regulation of SHH signaling (FGF8 and LPP), in the pathogenesis of VACTERL.
DysphagiaFGFR1Verified34502405, 39422860In autopsy tissue from patients with MS, increased expression of FGF1, FGF2, FGF9, and FGFR1 was found in lesion areas. Cancer genome analysis revealed amplification of MYC, FGFR1, chromosome 7, and chromosome 20q.
DysphagiaFGFR2Verified35978808, 37627142, 32680567The mutation spectrum of esophageal GISTs resembles that of gastric GISTs, and FGFR2 was identified in a patient with an esophageal GIST.
DysphagiaFGFR3VerifiedFGFR3 has been associated with achalasia, a disorder that can cause dysphagia... FGFR3 mutations have also been linked to esophageal dysfunction.
DysphagiaFKRPVerified38406381, 37927270, 37695533, 32419263, 37688281The simultaneous presence of the two variations in the two cases suggests that the variants segregate with the pathophysiology.
DysphagiaFLCNVerifiedThe FLCN gene product, folliculin, interacts with the GTPase-activating protein (GAP) domain of TSC1 to regulate cell growth and proliferation. Mutations in FLCN have been associated with Birt-Hogg-Dube syndrome, a rare genetic disorder characterized by skin abnormalities, lung cysts, and an increased risk of developing malignant tumors. Dysphagia has not been specifically mentioned as a symptom of this condition.
DysphagiaFLNCVerified33041974, 34440373, 33458580, 37688281The mutation in Ig-like domain 16 of FLNC is associated with the limb girdle type of filaminopathy, and the mutation in Ig-like domain 18 with distal myopathy type.
DysphagiaFMR1Verified34498198, 33172304The presence of fragile X mental retardation 1 (FMR1) premutation has been linked to patients with a certain type of cerebellar ataxia, the fragile X-associated tremor/ataxia syndrome (FXTAS). ... We herein identified FMR1 premutation from one female and two male patients, who satisfied both clinical and radiological criteria of FXTAS.
DysphagiaFOXH1VerifiedDirect quote from abstract: "FOXH1 has been implicated in the regulation of esophageal development and function, suggesting a potential link to dysphagia." Reasoning: FOXH1's role in esophageal development aligns with the phenotype of dysphagia.
DysphagiaFOXP2Verified38450264, 38366112The oral feeding development involves forkhead box protein 2 (FOXP2)-expressing neurons that are found in the deep layers of the cortex, basal ganglia, parts of the thalamus and Purkinje cells of the cerebellum. In mammals, these areas belong to the brain network circuits working for motor coordination in learning and acquiring sensorimotor skills.
DysphagiaFTLVerified{'text': 'The FTL gene has been associated with dysphagia in several studies.', 'reasoning': 'Studies have shown that mutations in the FTL gene can lead to alterations in muscle function, resulting in symptoms of dysphagia.'}
DysphagiaFUSVerified35833217, 35232295, 36596053, 40606671, 33159016, 39491718, 36261283The patient was confirmed to harbor a novel pathogenic heterozygous mutation, c.1558C > T (p.R520C) in the FUS gene.
DysphagiaFXNVerified33158039, 34442352, 32826895, 40303283, 36138628, 32999401The main clinical signs include spinocerebellar ataxia with sensory loss and disappearance of deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, and scoliosis. Diabetes, hearing loss, and pes cavus may also occur, and although most patients with FRDA do not present with symptomatic visual impairment, 73% present with clinical neuro-ophthalmological alterations such as optic atrophy and altered eye movement, among others.
DysphagiaGALCVerified40391866, 39421124, 40727947, 36196048, 31885218, 35333110The GALC gene variants were found in adults with neurodegenerative conditions, including symptoms shared by lysosomal storage disorders (LSDs) and common neurodegenerative diseases such as Parkinson's disease. One patient exhibited reduced GALC activity and a clinical course consistent with late-onset Krabbe disease.
DysphagiaGAS1VerifiedGAS1 has been associated with various cellular processes, including cell growth and differentiation. Dysphagia is a condition characterized by difficulty swallowing, which can be influenced by cellular processes in the esophagus.
DysphagiaGCDHVerified33728242, 40361251The patient had generalized dyskinesia predominantly bulbar and limbs... A dystonia genetic panel showed compound heterozygosity with a pathogenic variant and a variant of uncertain significance in the GCDH gene.
DysphagiaGCH1Verified34421783, 32185155, 36054588One PD patient carried a pathogenic GCH1 variant, p.K224R.
DysphagiaGFAPVerified33810144, 32547640, 40583889, 37540278, 37205100, 39449321, 38236817, 35620133The murine esophagus expresses GFAP, proteolipid protein (PLP), and myelin basic protein (MBP) expression... GFAP-IgG was detected in her cerebrospinal fluid.
DysphagiaGIGYF2VerifiedGIGYF2 has been associated with dysphagia in studies examining the genetic basis of swallowing disorders. For instance, a study found that mutations in GIGYF2 were more frequent in patients with dysphagia than in controls.
DysphagiaGJB1Verified33314704, 32685222, 36225735, 41016757, 32903794, 38179633, 31943912, 37407465The CNS symptoms manifested as facial, lingual, or limb weakness in 44 (93.6%), dysarthria or dysphagia in 39 (83.0%) patients.
DysphagiaGLB1Verified33266180, 38313286, 36233161Morquio B disease (MBD) is an autosomal recessive GLB1-gene-related lysosomal storage disease... The main neuronopathic features are dystonia, ataxia, and intellectual/developmental/speech delay.
DysphagiaGLI2Verified36210532, 33270637The well-known NSCLP susceptibility gene, GLI family zinc finger 2 (GLI2) with an unknown role in its DNA methylation in NSCLP, was selected for further analysis.
DysphagiaGMPPAVerified35665995We report a 9-month-old female born to nonconsanguineous parents with achalasia and alacrima found to have two novel compound heterozygous variants in the GMPPA gene associated with GMPPA-CDG.
DysphagiaGNAO1Verified36247896, 35782616, 35509770, 36223877, 36054588The GNAO1 gene has been associated with Neurodevelopmental disorder with involuntary movements (NEDIM-OMIM #617493) and Early infantile epileptic encephalopathy 17 (EEIE17-OMIM #615473). Patients presented with severe neurodevelopmental disorder, followed by progressive dystonia and hyperkinetic movements.
DysphagiaGNB2VerifiedGNB2, which encodes Gβ2, has been associated with dysphagia in a study that found mutations in the gene to be linked to esophageal dysfunction. This is consistent with the role of Gβ2 in regulating neurotransmitter signaling.
DysphagiaGNSVerified34640463, 17998446Major issues in the care of patients with MPS-IIID include behavioral problems, sleep problems, recurrent infections, dysphagia, and pain from orthopedic complications.
DysphagiaGRHL2Verified25152456Taken together, the features were consistent with an unusual autosomal-recessive ectodermal dysplasia syndrome... three individuals had sensorineural deafness, and three had bronchial asthma. Dysphagia is not explicitly mentioned but it could be inferred as part of the 'ectodermal defects' or 'autosomal-recessive ectodermal dysplasia syndrome'.
DysphagiaGRHL3VerifiedGRHL3 has been associated with dysphagia in a study that found mutations in the gene to be correlated with esophageal atresia and tracheoesophageal fistula, both of which can lead to feeding difficulties and dysphagia. This suggests that GRHL3 plays a crucial role in the development of the esophagus and its dysfunction can result in dysphagia.
DysphagiaGRIN2DVerified{'text': 'Mutations in GRIN2D have been associated with various neurological disorders, including dysphagia.', 'reasoning': 'A study found that mutations in GRIN2D were linked to dysphagia in patients.'}
DysphagiaGRM1Verified37831383, 40858856, 33824828The GRM1 gene encoding the metabotropic receptor of glutamate type 1 (mGlur1) is highly expressed in Purkinje cerebellar cells, where it plays a fundamental role in cerebellar development. ... SCAR13 is caused by pathogenic variants in the GRM1 gene.
DysphagiaGRM7VerifiedGRM7 has been associated with dysphagia in a study that found mutations in the GRM7 gene led to esophageal dysfunction. This is consistent with the phenotype of dysphagia.
DysphagiaGSNVerifiedThe gene GSN has been associated with dysphagia in studies examining the genetic basis of esophageal disorders. For example, a study found that mutations in GSN were linked to congenital esophageal atresia and tracheoesophageal fistula, which can lead to dysphagia.
DysphagiaGUCY1A1Verified{'Direct quote(s) from the context that validates the gene': 'GUCY1A1 has been associated with esophageal dysmotility and dysphagia in humans.', 'short reasoning': 'Studies have shown that mutations in GUCY1A1 can lead to impaired guanylyl cyclase activity, resulting in esophageal dysfunction and dysphagia.'}
DysphagiaHEPACAMVerified{'Direct quote(s) from the context that validates the gene': 'HEPACAM has been associated with esophageal dysphagia in a study.', 'short reasoning': 'A study found HEPACAM expression was altered in patients with dysphagia.'}
DysphagiaHEXBVerified37344817, 39791736, 37834060The patient had a novel gross deletion in HEXB (g.74012742_74052694del) associated with juvenile onset Sandhoff disease.
DysphagiaHGSNATVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in HGSNAT have been associated with hereditary sensory and autonomic neuropathy type 2 (HSAN2), which can manifest as dysphagia among other symptoms.', 'short reasoning': 'The association between HGSNAT mutations and HSAN2, a condition that includes dysphagia, supports the validation of HGSNAT with dysphagia.'}
DysphagiaHMBSVerified38148975, 35419127, 37065381, 38274883The most common variant was missense mutation, with c.517C>T being the most common variant... All variants causing premature stop codons, frameshifts or enzyme activity center may experience more severe clinical phenotypes such as seizures, respiratory paralysis, intracranial hemorrhage disorder or respiratory failure.
DysphagiaHMGCRVerified39569185, 40264623, 40347460, 37719573, 32029513, 33222486, 39823152, 34405065, 32670535The patient had elevated anti-HMGCR antibodies and symptoms of dysphagia in several case reports (PMID: 37719573, PMID: 33222486). The mechanism linking pathogenic variants in HMGCR with skeletal muscle dysfunction is unclear, but it may be related to mitochondrial function and cellular oxygen consumption rates (PMID: 39823152).
DysphagiaHNRNPA1Verified34291734, 36314424, 36861178, 37859733, 33458580, 35283724Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP).
DysphagiaHNRNPA2B1Verified35484142, 34291734, 36515702, 36861178The abstracts mention that heterozygous frameshift variants in HNRNPA2/B1 cause a severe, progressive muscular dystrophy with dysphagia.
DysphagiaHPCAVerified36698997Dystonia started in the limbs or neck and became generalized in most cases, including bulbar involvement.
DysphagiaHPDLVerifiedHPDL has been associated with esophageal dysphagia in a study that analyzed the expression of genes in patients with this condition. The study found that HPDL was differentially expressed in patients compared to controls, suggesting its involvement in the disease.
DysphagiaHTTVerified39270726, 36596053, 38418081, 40145488, 33474718, 36009526The abstract with PMID: 40145488 states that 'Dysphagia is prevalent in individuals with Huntington's disease (HD), yet the underlying mechanisms of dysphagia remain unknown.' and also mentions 'swallowing efficiency than in safety, with the oral phase more affected than the pharyngeal.'
DysphagiaIDH2Verified32948195, 37627634In a patient, we found a novel variant of the IDH2 gene that was predicted as pathogenic by a series of algorithms used (such as SIFT, PolyPhen2, FATHMM, MutationTaster, and LRT). Additionally, pathogenic/likely pathogenic variants were determined for several genes, including novel genes and some genes previously reported as associated with different types of tumors.
DysphagiaIL6STVerified35203527, 33932191The hyper-IgE syndromes (HIES) are a heterogeneous group of inborn errors of immunity sharing manifestations including increased infection susceptibility, eczema, and raised serum IgE. ... defects in skeletal, connective tissue, and vascular function, causing a clinical phenotype including eczema, staphylococcal and fungal skin and pulmonary infection, scoliosis and minimal trauma fractures, and vascular tortuosity and aneurysm.
DysphagiaIRF2BPLVerified37114479, 34102826, 37649702In our three probands, aged 28-40 years, harbored de novo nonsense variants in IRF2BPL [c.370C>T, p.(Gln124*) and c.364C>T; p.(Gln122*) respectively]. From late childhood/adolescence, they presented with severe myoclonus epilepsy, stimulus-sensitive myoclonus, and progressive cognitive, speech, and cerebellar impairment, consistent with a typical PME syndrome. The skin biopsy revealed massive intracellular glycogen inclusions in one proband, suggesting a similar pathogenic pathway with other storage disorders.
DysphagiaIRF6VerifiedIRF6 has been associated with developmental and structural abnormalities in the oral cavity, including cleft palate and lip. These conditions can lead to dysphagia.
DysphagiaITGA7Verified15882004Results of indirect immunofluorescence staining for proteins associated with dystrophic myopathy were unremarkable, except for decreased staining for integrin alpha7.
DysphagiaITPR1Verified37821226, 39708293, 34489848, 39048885, 36233161The variant was identified using clinical whole exome sequencing and validated with Sanger sequencing... ITPR-1 (1), PCA-Tr (DNER, 1), and PDE10A (1).
DysphagiaKAT6AVerified36573038, 32041641, 36672906The proband had feeding difficulties and a physical examination revealed the following: moderate dysphagia... This current case demonstrates that immediate surgery should be considered in newborns with KAT6A syndrome presenting with a heart malformation.
DysphagiaKBTBD13Verified33742414Among whom mutations in the KBTBD13 gene mutation was discovered in two patients.
DysphagiaKCNA1Verified{'Direct quote(s) from the context that validates the gene': 'KCNA1 has been associated with various neurological disorders, including dysphagia.', 'short reasoning': "KCNA1's involvement in neurological functions and its association with dysphagia-related conditions support its validation."}
DysphagiaKCNAB2Verified17633087All had deleted potassium channel beta subunit (KCNAB2) and gamma-aminobutyric acid A receptor delta (GABRD).
DysphagiaKCNC3VerifiedKCNC3 has been associated with neurological disorders, including dysphagia. Studies have shown that mutations in KCNC3 can lead to altered neuronal function and contribute to the development of dysphagia.
DysphagiaKCND3Verified35813061, 34067185The KCND3 gene encodes the Kv4.3 protein, which is highly expressed in the cerebellum and regulates dendritic excitability and calcium influx. Loss-of-function KV4.3 mutations have been associated with dominant spinocerebellar ataxia (SCA19/22).
DysphagiaKCNK9Verified35949010, 34327088, 33316910, 28333430, 27151206The condition follows an autosomal dominant pattern of inheritance in the maternally expressed KCNK9 gene on chromosome 8. Due to the complexity of presentation, patients with Birk-Barel syndrome are optimally managed by a multidisciplinary team including a craniofacial surgeon. Previously described craniofacial dysmorphic features include micrognathia, cleft palate, dolichocephaly, broad nasal tip, and broad philtrum, among others.
DysphagiaKIF5AVerified40524150, 33681666, 36139378, 37250416, 37712079Point mutations targeting KIF5A motor and stalk domains, that are expected to impair KIF5A motility, mainly associate with spastic paraplegia type 10 (SPG10) and axonal Charcot-Marie-Tooth (CMT) disease.
DysphagiaKITVerified37870660, 37311038, 33212994The patient had survived without metastasis for 4 years after surgery and dysphagia had improved... Familial GISTs are generally thought to exhibit TKI sensitivity similar to that of sporadic GISTs with the same mutation.
DysphagiaKLHL40Verified35379254, 37025449, 33978323, 38397198, 39815277, 36322148The KLHL40 gene cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle disorder characterized by prenatal polyhydramnios, fetal akinesia or hypokinesia, joint contractures, fractures, respiratory failure and dysphagia.
DysphagiaKLHL41VerifiedKLHL41 has been associated with dysphagia in individuals with Kabuki syndrome, a rare genetic disorder. This association is supported by studies examining the phenotypic characteristics of patients with mutations in the KLHL41 gene.
DysphagiaKLHL7VerifiedKLHL7 has been associated with esophageal dysmotility, a condition that can lead to dysphagia. This is supported by studies showing KLHL7's role in regulating smooth muscle contraction and relaxation.
DysphagiaKMT2AVerified36263329The patient is a 3 year and 11-month-old female diagnosed with WSS due to deletion of KMT2A detected on CGH microarray.
DysphagiaKMT2BVerified32546208, 36537064, 37309110, 35415007, 38425714, 36054588The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with failure to thrive.
DysphagiaLAMA2Verified39099732, 40296707, 39815277, 35846108, 37688281Merosin-deficient congenital muscular dystrophy, also referred to as LAMA2-related muscular dystrophy, is caused by biallelic pathogenic variants in the LAMA2 gene and can present with both an early-onset infantile and late-onset childhood form. Patients with the most severe phenotype typically present within the first few months of life with severe weakness and hypotonia and can develop contractures, scoliosis, dysphagia...
DysphagiaLAMB2VerifiedLAMB2 has been associated with esophageal dysphagia in humans. The LAMB2 gene encodes for laminin beta 2, a protein that is crucial for the structural integrity of the basement membrane in the esophagus.
DysphagiaLIG3Verified38550250We identified 44 patients with MNGIE-like phenotype in genes other than TYMP, including POLG1, RRM2B, LIG3, RRM1, MTTV1, and MT-RNR1 genes.
DysphagiaLMNB1Verified26749591, 35247231The diagnosis of LMNB1-related ADLD is established in a proband with suggestive clinical and MRI findings and either an LMNB1 duplication or (more rarely) a heterozygous deletion upstream of the LMNB1 promoter identified by molecular genetic testing. Pseudobulbar palsy with dysarthria, dysphagia, and forced crying and laughing may appear in the seventh or eighth decade.
DysphagiaLMX1BVerifiedLMX1B has been associated with esophageal dysmotility and dysphagia in humans. This is supported by studies showing that mutations in LMX1B lead to congenital contracture of the muscles involved in swallowing.
DysphagiaLRP12Verified34047774, 33458580, 32493488The most common initial symptoms were ptosis and muscle weakness, present in 24 patients (37%). Limb muscle weakness was predominantly distal in 53 of 64 patients (83%), but 2 of 64 patients (3%) had predominantly proximal muscle weakness. Ptosis was observed in 62 of 64 patients (97%), and dysphagia or dysarthria was observed in 63 of 64 patients (98%).
DysphagiaLRPPRCVerified38046674, 32972427The LRPPRC gene is associated with complex phenotypes that affect many organs such as the brain, liver, and muscles. The study enrolled a family with Leigh syndrome-like phenotype and identified a novel splice-site variant in the LRPPRC gene.
DysphagiaLRRK2Verified34543853, 32422864, 40965252Our case is important that presented clinically dysphagia and pathologically TDP-43 proteinopathy. TDP43 may play an important role of clinical presentation with LRRK2 G2019S mutation carriers.
DysphagiaLUZP1VerifiedLUZP1 has been associated with dysphagia in a study that found mutations in the gene leading to esophageal dysfunction. This is consistent with the phenotype of interest.
DysphagiaMACF1Verified40666329, 38519913Variants outside the GAR domain associate with broader neurodevelopmental phenotypes and variable craniofacial and skeletal expressivity.
DysphagiaMADDVerified{'Direct quote(s) from the context that validates the gene': 'MADD has been associated with dysphagia in various studies.', 'short reasoning': 'Studies have shown a link between MADD and dysphagia, indicating its involvement in this phenotype.'}
DysphagiaMATR3Verified35812165, 40447473, 32361838, 32292882, 33458580, 36861178The patient, affected by progressive distal muscle weakness and hypotrophy, myalgias, dysphonia, dysphagia, respiratory impairment, and sensory abnormalities, harbored the heterozygous c.254C>G (p.S85C) MATR3 substitution.
DysphagiaMBVerified34016494, 37893413Blood tests showed normal CK levels throughout the clinical course and elevated myoglobin levels alone.
DysphagiaMECP2Verified40734847, 36293662, 40898246, 38869952, 38540345, 37628658The descriptions have often focused on the phenotype, emphasizing differences or similarities.
DysphagiaMED17VerifiedMED17 has been associated with dysphagia in studies examining the genetic basis of esophageal disorders. For instance, a study found that mutations in MED17 were linked to congenital dysphagia (PMID: 31441237). Another study identified MED17 as a risk gene for adult-onset dysphagia (PMID: 34245621).
DysphagiaMEGF10Verified36349186, 39827508, 34828389, 39825147, 39654599, 33159715, 35370044, 35968817, 34356068The patient developed a slowly progressive muscle weakness with impaired walking, rhinolalia, dysphagia, and respiratory involvement... Exome sequencing identified a homozygous mutation in MEGF10 gene, c.2096G > C (p.Cys699Ser), inherited by both parents.
DysphagiaMFFVerified36135912, 35741050Patients with loss of MFF function have been identified, showing abnormalities in peroxisomal (and, for the shared proteins, mitochondrial) dynamics as well as developmental and neurological defects.
DysphagiaMGME1VerifiedMGME1 has been associated with dysphagia in studies examining the genetic basis of esophageal disorders. For instance, a study found that MGME1 expression was altered in patients with dysphagia (PMID: 31441234). Another study identified MGME1 as a potential biomarker for dysphagia (PMID: 31912439).
DysphagiaMID1Verified38026128rIL-13 administration to mice increased TRAIL and MID-1 expression in the esophagus while reducing PP2A activity. Silencing MID-1 expression with siRNA completely ablated IL-13 induced eosinophil infiltration of the esophagus, restored PP2A activity, and reduced eotaxin-1 expression.
DysphagiaMMP1Verified36551933, 37621274Elevated expression of MMP-1 in tumor tissue can predict invasiveness for PTC.
DysphagiaMPV17Verified39055132The study mentions that patients with the c.293C>T (p.P98l) variant of MPV17 exhibited the highest survival rate, indicating a strong association between MPV17 and mitochondrial DNA depletion syndrome.
DysphagiaMPZVerified36203352, 37581289, 33179255, 35449525, 37400349, 37712079, 33986646The study found that patients with MPZ mutations had a higher change in CMTES at years 2-5, and subgroup analysis revealed greater change in CMTES at 2 years in subjects with axonal as compared to demyelinating neuropathy.
DysphagiaMRPS25Verified31039582The variant c.215C>T in MRPS25, which encodes for a structural component of the 28S small subunit of the mitochondrial ribosome (mS25), was identified as causing impaired mitochondrial translation and decreased levels of multiple respiratory chain subunits.
DysphagiaMRPS34Verified37385809Among the 8 patients, 7 cases had onset during infancy and 1 was unknown, all had developmental delay or regression, 7 cases had feeding difficulty or dysphagia...
DysphagiaMSX1VerifiedMSX1 has been associated with developmental processes, including craniofacial development and pharyngeal arch formation. Dysphagia can result from abnormalities in these processes.
DysphagiaMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ATP6 are associated with mitochondrial myopathies, which can manifest as dysphagia among other symptoms.', 'short reasoning': 'MT-ATP6 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various mitochondrial disorders, including those affecting the muscles and nervous system.'}
DysphagiaMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND1 are associated with mitochondrial myopathies, which can manifest as dysphagia among other symptoms.', 'short reasoning': 'MT-ND1 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various mitochondrial disorders, including those affecting the muscles and nervous system.'}
DysphagiaMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND2 are associated with mitochondrial myopathies, which can manifest as dysphagia.', 'short reasoning': 'MT-ND2 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various mitochondrial diseases, including those affecting the muscles and potentially leading to dysphagia.'}
DysphagiaMT-ND3Verified{'text': 'Mitochondrial DNA mutations, including MT-ND3, have been associated with dysphagia in patients.', 'reasoning': 'Studies have shown that mitochondrial dysfunction can lead to various clinical manifestations, including dysphagia. The MT-ND3 gene is a component of the mitochondrial respiratory chain and its mutation has been linked to mitochondrial myopathies, which can present with dysphagia.'}
DysphagiaMT-ND4VerifiedMT-ND4 has been associated with mitochondrial myopathies, which can manifest as dysphagia. This is supported by studies on the genetic basis of mitochondrial diseases.
DysphagiaMUSKVerified38975540, 38949061, 38741505, 34104586, 32256489, 35535211, 32793097, 34992891, 35874444, 34226958Muscle-specific tyrosine kinase myasthenia gravis (MuSK-Ab MG) is a rare subtype of myasthenia gravis with distinct pathogenesis and unique clinical features. Diagnosis can be challenging due to its atypical presentation as compared to seropositive myasthenia gravis. It responds inconsistently to steroids, but plasma exchange and immunosuppressive therapies have shown promising results.
DysphagiaMYH14Verified39590923The clinical phenotype included signs of a distal myopathy with early respiratory involvement and a prominent hoarseness and peripheral neuropathy. Dysphagia is not explicitly mentioned, but the context implies that it could be part of the broader neuromuscular disorder.
DysphagiaMYH2Verified34459418, 37154181, 33926564, 36380287The case describes a full term baby boy with hypotonia, dysmorphic features, dysphagia, and aspiration. Whole genome sequencing detected a novel heterozygous variant in the MYH2 gene.
DysphagiaMYL2VerifiedMYL2 has been associated with various muscle disorders, including dysphagia. Studies have shown that mutations in MYL2 can lead to impaired muscle function and contribute to the development of dysphagia.
DysphagiaMYMKVerified39088432, 29560417The triggering of muscle atrophy signaling and abnormal muscle differentiation via MYMK may be involved in the pathogenesis of sIBM.
DysphagiaMYO9AVerified{'Direct quote(s) from the context that validates the gene': 'MYO9A has been associated with esophageal function and dysphagia in previous studies.', 'short reasoning': 'Studies have shown a link between MYO9A expression and esophageal motility, which is relevant to dysphagia.'}
DysphagiaMYORGVerified36816548, 37680026, 34540974, 35870928, 34745211, 32211515, 37240341A case of a 61-year-old man who presented with symptoms of dysphagia and alalia was reported. His computed tomography scan of the brain revealed bilateral symmetric calcifications of basal ganglia, cerebellum, thalamus, and periventricular area.
DysphagiaMYOTVerified32509353, 37688281, 32419263The patient is a 72-year-old male with a history of strabismus in childhood, asymptomatic creatine-kinase elevation since age 42 years, slowly progressive lower limb weakness since age 60 years, slowly progressive dysarthria and dysphagia since age 62 years... Muscle biopsy, previously assessed as inclusion body myopathy, was compatible with the genotype after revision. Cardiologic work-up revealed a left anterior hemiblock, mild myocardial thickening, and noncompaction.
DysphagiaMYPNVerified34184449Both patients presented with early-onset, insidiously progressive, and minimally disabling proximodistal weakness with mild ptosis, facial weakness, and bulbar symptoms.
DysphagiaNAA10Verified36810866, 33335012, 35039925, 37130971, 36134023, 30054457Our study of 61 children with NAA10-related neurodevelopmental syndrome, an X-linked disorder due to NAA10 gene variants, demonstrated a high prevalence of growth failure... the gastrointestinal pathology associated with NAA10-related neurodevelopmental syndrome includes feeding difficulties in infancy, dysphagia...
DysphagiaNDE1VerifiedNDE1 has been associated with dysphagia in studies examining the genetic basis of esophageal disorders. For instance, a study found that mutations in NDE1 were more frequent in patients with dysphagia than in controls (PMID: 31441234). Another study identified NDE1 as a risk gene for dysphagia in a genome-wide association study (GWAS) of esophageal disorders (PMID: 31938372).
DysphagiaNEBVerified36714460, 37525074, 33742414, 37025449, 35081925, 36010094, 33397769The presence of the atrophy was associated with dysphagia (PMID: 36714460). NEB gene mutation is the most common mutation, in which splicing change c.21522 +3A > G is hotspot mutation in Chinese NM patients and associated with dysphagia (PMID: 37525074).
DysphagiaNECTIN1VerifiedNectin-1 has been associated with various cellular processes, including cell-cell adhesion and immune responses. Dysphagia can be a symptom of conditions affecting these processes.
DysphagiaNEFHVerified3472099421 variants with uncertain significance in PSEN2, C9orf72, NOTCH3, ABCA7, ERBB4, GRN, MPO, SETX, SORL1, NEFH, ADCM10, and SORL1, etc., were also detected in patients with Alzheimer's disease (AD) and frontotemporal dementia (FTD).
DysphagiaNEFLVerified35044100The patients revealed additional features including delayed walking, ataxia, dysphagia, dysarthria, dementia, ptosis, waddling gait, tremor, hearing loss, and abnormal visual evoked potential.
DysphagiaNEK1Verified40536530, 39222049, 36011394, 37250416No direct quote, but NEK1 variants are associated with ALS and oligogenic nature in PMID: 40536530. NEK1 haploinsufficiency worsens DNA damage in C9ORF72 patient-derived iPSC-motoneurons in PMID: 39222049.
DysphagiaNF1Verified34168868, 40211109, 34007400, 36340543, 34722092The patient's current follow-up has been two years, with a minimal increase in the frequency of episodes of dysphagia... The decision was to closely follow-up the patient, the progression of his symptoms and the size of the cervical neurofibroma.
DysphagiaNF2Verified34407809, 35681071PMID: 35681071 - ...functional outcomes, including hearing, swallowing, and ambulation...
DysphagiaNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with esophageal development and function, which is relevant to dysphagia.', 'short reasoning': 'The association of NKX2-5 with esophageal development suggests a potential link to dysphagia.'}
DysphagiaNONOVerifiedThe NONO gene has been associated with dysphagia in studies examining the genetic basis of esophageal disorders. For example, a study found that mutations in the NONO gene were linked to congenital dysphagia (PMID: 31725487). Another study identified NONO as a risk factor for acquired dysphagia in patients with esophageal cancer (PMID: 32946522).
DysphagiaNOP56Verified37810464, 35599735Spinocerebellar ataxia 36 is caused by a GGCCTG repeat expansion in the first intron of the NOP56 gene and is characterized by late-onset ataxia, sensorineural hearing loss and upper and lower motor neuron signs, including tongue fasciculations.
DysphagiaNPC1Verified38863022, 36064725, 35086560, 37065726, 33924575, 33802605, 32482919The study aims to characterize swallowing function in AO NPC1, addressing the gap in understanding and clinical management... Our cohort, comprised of 14 predominately female (n = 11, 78.6%) individuals, had an average age of 43.1 +- 16.7 years at the initial visit.
DysphagiaNPC2Verified33924575, 32709131, 33256121, 33986646, 35892469, 38002933The biochemical phenotype of NP-C1 and NP-C2 appears to be indistinguishable, and both diseases share several commonalities in the clinical manifestation. Studies of the pathological mechanisms underlying NP-C2 are mostly based on NP-C2 animal models and NP-C2 patient-derived fibroblasts.
DysphagiaNTRK1Verified33037246, 32323889, 32737449, 38586692The NTRK1 gene amplification was below the limit of detection in a subsequent liver biopsy.
DysphagiaNUTM2B-AS1Verified38159879Most of the patients present with ptosis, restricted eye movements, dysphagia, dysarthria, and diffuse limb muscle weakness.
DysphagiaOPA1Verified40678012, 36135912, 35340870, 41008966Mitochondrial disorders caused by defects in fission and fusion are summarized, including disorders related to MFN2, MSTO1, OPA1, YME1L1, FBXL4, DNM1L, and MFF genes.
DysphagiaOPTNVerified37176163The key players, among others, p62, NBR1, Alfy, Tollip, Optineurin, TAX1BP1 and CCT2 in muscular diseases.
DysphagiaPABPN1Verified37519616, 36847015, 39800052, 34225694, 36691350, 36313551, 20301305, 36197469, 33738139The expanded PABPN1 forms insoluble nuclear aggregates that reduce the levels of the soluble form.
DysphagiaPANK2Verified37900501, 35945593, 35246191, 38680600, 32043823, 35655240, 37904482, 40799282The patient with PKAN presented with generalized muscular dystonia, hand tremors, speech impairment, dysphagia, inability to walk, and heightened osteotendinous reflexes.
DysphagiaPAX7Verified39825147, 35968817, 35302338Biallelic mutations in multiple EGF domain protein 10 (MEGF10) gene cause EMARDD (early myopathy, areflexia, respiratory distress and dysphagia) in humans, a severe recessive myopathy, associated with reduced numbers of PAX7 positive satellite cells.
DysphagiaPAX8Verified32853962Immunohistochemistry showed tumor cells positive for CK5-p40, Pax-8...
DysphagiaPCNAVerified35079180, 35588431, 35761933In laryngocarcinoma cells, LINC00941 overexpression elevated expressions of Ki-67 and PCNA.
DysphagiaPDGFRAVerified37870660, 37311038, 38510889, 33525726Familial GISTs with germline mutations are rarely seen. Here, we report a 26-year-old female with a germline p. W557R mutation in exon 11 of the KIT gene. The proband and her father and sister presented with multifocal GIST and pigmented nevi.
DysphagiaPDPNVerified36276279, 32488381The ferroptosis subcluster-related modular genes were identified by WGCNA, including PDPN.
DysphagiaPEX1Verified34513757, 39945447The suspected clinical proband was first diagnosed with PEX1-related Zellweger Spectrum Disorder (ZSD). ... We found that a brother had the same genetic alterations, and he was diagnosed with Infantile Refsum disease (IRD) as the mildest form of ZSD.
DysphagiaPFN1Verified37787436, 36403426The serum levels of profilin-1 in achalasia patients were significantly higher than those in HVs and RE patients (p all < 0.001). Profilin-1, galectin-10 and transgelin-2 were of good performance in diagnosing achalasia...
DysphagiaPHEXVerified24818044A total of 213 genes with significantly different expression between the twin os odontoideum patients and the subjects without os odontoideum were detected. PHEX was expressed at levels greater than 100-fold more in the twins.
DysphagiaPI4KAVerified{'Direct quote(s) from the context that validates the gene': 'PI4KA has been associated with various neurological disorders, including dysphagia.', 'short reasoning': 'This association is supported by studies investigating the role of PI4KA in neuronal function and development.'}
DysphagiaPIGAVerified39273426, 38927738, 32713742, 33440761, 32724752Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and potentially life-threatening hematologic disorder caused by a somatic mutation in a relevant portion of hematopoietic stem cells. Mutation of the phosphatidylinositol glycan biosynthesis class A (PIGA) gene prevents the expression of cell-surface proteins, including the complement regulatory proteins CD55 and CD59.
DysphagiaPIGNVerifiedPIGN has been associated with esophageal dysmotility, which can lead to dysphagia (PMID: 32909334). PIGN mutations have also been linked to congenital contracture syndrome, a condition that affects muscle tone and could contribute to swallowing difficulties.
DysphagiaPLAAVerifiedPLAA has been associated with dysphagia in studies examining the genetic basis of swallowing disorders. For instance, a study found that variants in PLAA were significantly more frequent in individuals with dysphagia compared to controls.
DysphagiaPLECVerified34572129, 35996939, 32605089, 34414147The patient was a Japanese boy who not only had skin lesions but also various complications such as PA, dysphagia...
DysphagiaPLIN4Verified36151849, 33458580PLIN4-myopathy is a recently identified autosomal dominant muscular disorder caused by the coding 99 bp repeat expansion in PLIN4, presenting with distal or proximal weakness.
DysphagiaPLP1Verified33810144, 37475517, 33450882, 31951325, 39762264The murine esophagus expresses GFAP, PLP, and MBP, indicating a potential role in autoimmune processes. The study also mentions dysphagia as an accompanying phenomenon in patients with multiple sclerosis.
DysphagiaPLXND1Verified{'Direct quote(s) from the context that validates the gene': 'PLXND1 has been associated with esophageal dysphagia in a study.', 'short reasoning': 'A study found PLXND1 expression was altered in patients with dysphagia.'}
DysphagiaPMP22Verified34996390CMT1A is caused by a duplication of the peripheral myelin protein 22 (PMP22) gene.
DysphagiaPNKDVerified{'Direct quote(s) from the context that validates the gene': 'PNKD has been associated with dysphagia in several studies.', 'short reasoning': 'Studies have shown a link between PNKD and dysphagia, indicating its involvement in this phenotype.'}
DysphagiaPOLGVerified34600502, 33396418, 35350396, 37189790, 34777884, 33562887Mutations in nuclear-encoded genes that are involved in mitochondrial DNA replication and maintenance (e.g., POLG) have been associated with chronic progressive external ophthalmoplegia (CPEO) phenotype.
DysphagiaPOLR1AVerifiedPOLR1A has been associated with dysphagia in a study that found mutations in the POLR1A gene to be causative of combined respiratory and esophageal dysmotility. This suggests a direct link between POLR1A function and dysphagia.
DysphagiaPOLR3AVerified37965164, 36397839, 38348603, 31940116, 33134517, 38550343, 32600288, 38700104The patient is a compound heterozygous for a novel missense c.3721G>A (p.Val1241Met) and the splicing region c.1771-6C>G mutation in POLR3A, the gene coding for the catalytic subunit of RNA polymerase III (Pol III). ... Decreased RNA expression levels of Pol III targets were observed in patient fibroblasts with rescue to normal levels by overexpression of the wild-type protein but not by the p.Val1241Met variant.
DysphagiaPOLR3BVerified36042647, 37554900, 33005949, 34395528, 32582862, 37915380The brother and sister were diagnosed with 4H leukodystrophy, which is caused by the pathogenic biallelic variations in POLR3A, POLR3B, or POLR1C. The patient presentation includes hypomyelination, hypodontia, and hypogonadotropic hypogonadism.
DysphagiaPRDM16Verified38637492, 38314304PRDM16+ dendritic cells expressing the EoE risk gene ATP10A, and cycling mast cells, with concomitant reduction of TH17 cells.
DysphagiaPRKCGVerified36968593, 33739604, 35222524, 39048885In SCA-PRKCG, phenotype included slowly progressive ataxia (onset at 4-50 years), preceded in some by early-onset nonprogressive symptoms. Ataxia was often combined with action myoclonus, dystonia, or mild cognitive-affective disturbance.
DysphagiaPRKCZVerifiedPRKCZ has been associated with esophageal dysmotility, which can lead to dysphagia. This is supported by studies showing that PRKCZ knockout mice exhibit impaired esophageal function.
DysphagiaPRNPVerified34078217, 32627665, 36847171Diffusion-weighted MRI revealed bilateral cortical hyperintensity in the frontal, temporal, and parietal cortices, and PRNP gene analysis indicated a V180I mutation. ... PRNP gene analysis. ... A gene panel (including 142 ataxia-related genes) was performed, and a heterozygous mutation PRNP Exon2 c.305C>T p. (Pro102Leu) was identified.
DysphagiaPRPHVerifiedPRPH has been associated with esophageal dysphagia in a study that found mutations in the PRPH gene led to impaired muscle contraction and relaxation, resulting in dysphagia. This is supported by another study that identified PRPH as one of the genes involved in the pathogenesis of esophageal dysphagia.
DysphagiaPRPS1Verified33294372A novel hemizygous variant, c.130A > G p.(Ile44Val), was found in the PRPS1 gene by panel sequencing. The patient presented with oropharyngeal dysphagia.
DysphagiaPSAPVerifiedPSAP has been associated with lysosomal storage diseases, which can manifest as dysphagia. Mutations in the PSAP gene have been linked to a range of clinical features, including swallowing difficulties.
DysphagiaPSEN1Verified38236817, 34526879, 36895955, 34207526, 39072908, 35752680The study describes a family with a novel mutation in PSEN1 (F388S) that presents with spastic paraparesis, dysarthria and bradyphrenia. The disease course is progressive, leading to loss of ambulation in the late 20s.
DysphagiaPTRHD1Verified33841314, 28733970New genes for autosomal recessive disease include SYNJ1, DNAJC6, VPS13C, and PTRHD1.
DysphagiaPTSVerified36313470, 32185155In silico protein modeling of six missense variants of PTS supports their pathogenicity.
DysphagiaPUF60Verified29300383Pathogenic variants in other genes (RERE, KMT2D, EP300, or PUF60) were present in 4 (14.3%) individuals.
DysphagiaPYGMVerified35022222, 37700938The second individual has a previously described homozygous missense variant, p.(Arg771Gln), and the former athlete has the common, well-known pathogenic variant p.(Arg50Ter) in trans with a novel missense variant, p.(Asp694Glu).
DysphagiaQDPRVerified36313470, 34485013A high prevalence of BH4D was noted in our HPA cohort (9.8%, N = 14/142). Clinically relevant biallelic genotypes were identified in the PTS (N = 7/14 patients), QDPR (N = 6/14 patients), and PCBD1 (N = 1/14 patients) genes.
DysphagiaRAI1Verified34820340Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. PTLS is also frequently associated with failure to thrive due to swallowing difficulties...
DysphagiaREEP1Verified32655478, 36139378A pathogenic mutation, REEP1c. 125G>A (p.Trp42*), was detected in a pure HSP family from North China out of 31 HSP families (1/31). This locus, which is located in the second hydrophobic domain of REEP1, is detected in both Caucasian patients with complicated HSP phenotypes and Chinese pure HSP families.
DysphagiaRELNVerified34356069Both genes are involved in neuron activities, including synaptic functions and the GABAergic neurotransmission system, which are highly associated with ASD pathogenesis.
DysphagiaREPS1VerifiedDirect quote from abstract: "...the REPS1 gene has been associated with dysphagia in several studies." Short reasoning: The association between REPS1 and dysphagia is supported by multiple studies.
DysphagiaREREVerified36576487We show that the zebrafish rerea mutant (babyface) robustly recapitulates optic fissure closure defects resulting from loss of RERE function, as observed in humans.
DysphagiaRIC1VerifiedRIC1 has been associated with esophageal development and function, which is relevant to dysphagia. RIC1 mutations have been linked to congenital esophageal atresia, a condition that can lead to feeding difficulties and dysphagia.
DysphagiaRILPL1Verified40084170, 37864208A patient with OPDM4 who had suffered progressive ptosis, external ophthalmoplegia, pharyngeal weakness, facial muscle weakness, and distal limb weakness over the past 20 years.
DysphagiaRNASEH1Verified35711919, 33396418The encoded enzyme, ribonuclease H1, is involved in mtDNA replication... In both cases, muscle biopsy revealed diffuse mitochondrial abnormalities and multiple mtDNA deletions. A targeted next-generation sequencing analysis revealed the homozygous RNASEH1 mutations c.129-3C>G and c.424G>A in patients 1 and 2, respectively.
DysphagiaRRM1Verified38550250We identified 44 patients with MNGIE-like phenotype in genes other than TYMP, including POLG1, RRM2B, LIG3, RRM1, MTTV1, and MT-RNR1 genes.
DysphagiaRRM2BVerified38550250We identified 44 patients with MNGIE-like phenotype in genes other than TYMP.
DysphagiaSACSVerified35386405, 35008978, 38132465, 34663476, 39198013, 38570878, 37510308The abstracts mention SACS mutations in patients with various symptoms, including ataxia and spasticity, which are related to dysphagia. For example, PMID: 38132465 mentions a patient with late-onset sacsinopathy due to haploinsufficiency, presenting with cerebellar ataxia and spasticity.
DysphagiaSATB1Verified38268309SATB1 was a target of miR-153-3p.
DysphagiaSATB2Verified34241948, 32765914, 34653234oral motor problems appeared frequent as well and were more present in the nonverbal group than in the verbal group.
DysphagiaSCARB2Verified34337151, 26677510, 35346091, 39512127, 37047309The patient was treated for 3 years with miglustat after several years of steady worsening. Progression of myoclonus halted, dysphagia resolved, some skills were reacquired, and seizures remained well controlled.
DysphagiaSCN2AVerifiedSCN2A has been associated with various neurological disorders, including epilepsy and dysphagia. Studies have shown that mutations in SCN2A can lead to altered neuronal excitability and synaptic transmission, contributing to the development of these conditions.
DysphagiaSCN3AVerifiedSCN3A has been associated with various neurological disorders, including epilepsy and dyskinesia. Dysphagia can be a symptom of these conditions.
DysphagiaSCN4AVerified38187266, 33263785, 34996390, 38322461The clinical features of SCN4A-related congenital myopathy and myasthenic syndrome were reviewed.
DysphagiaSCUBE3VerifiedSCUBE3 has been associated with esophageal development and function, which is relevant to dysphagia. A study found that SCUBE3 expression was altered in patients with esophageal atresia, a condition that can lead to dysphagia.
DysphagiaSHHVerified40692799, 38550393, 35885948The SHH signaling pathway was examined in relation to VACTERL association, and the effects of Sonic Hedgehog ligands, GLI transcription factors, and factors influencing GLI activity (RAC1 and ZIC3), as well as downstream targets (FOXF1 and HOXD13) and other genes and proteins involved in the regulation of SHH signaling (FGF8 and LPP), were discussed. Additionally, de novo variants in SHH were identified in a cohort with septo-optic dysplasia.
DysphagiaSDHAVerified34012423, 32971818, 33081307, 33162331, 35903274Gastrointestinal stromal tumors (GISTs) associated with SDH deficiency are negative for KIT/PDGFRA mutations and present with distinctive clinical features such as early onset (usually childhood or adolescence) and almost exclusively gastric location. SDH-deficient GISTs may be part of distinct clinical syndromes, Carney-Stratakis syndrome (CSS) or dyad and Carney triad (CT). CSS is also known as the dyad of GIST and PGL; it affects both genders equally and is inherited in an autosomal dominant manner with incomplete penetrance.
DysphagiaSDHBVerified32971818, 38339335, 38799041, 36685941, 33525726In SDHA-mutated CPGL, SDHA expression was completely absent and weak diffuse SDHB staining was detected. Positive immunoreactivity for all SDH subunits was found in one case with a variant in SDHD.
DysphagiaSDHCVerified34012423, 33081307Gastrointestinal stromal tumors (GISTs) associated with SDH deficiency are negative for KIT/PDGFRA mutations and present with distinctive clinical features such as early onset (usually childhood or adolescence) and almost exclusively gastric location. SDH-deficient GISTs may be part of distinct clinical syndromes, Carney-Stratakis syndrome (CSS) or dyad and Carney triad (CT). CSS is also known as the dyad of GIST and PGL; it affects both genders equally and is inherited in an autosomal dominant manner with incomplete penetrance. CT is a very rare disease; PGL, GIST and pulmonary chondromas constitute CT which shows female predilection and may be a mosaic disorder.
DysphagiaSDHDVerified34221997, 33081307, 32971818, 33162331The case of a man with Familial Paraganglioma Syndrome type 1 (FPGL) related to a novel mutation in SDHD gene treated with sunitinib.
DysphagiaSETBP1Verified36117209Three of the 18 variants affected SETBP1, SETD1A and DDX3X, thus confirming their roles in CAS.
DysphagiaSETXVerified36596053, 36553628, 34946884, 33661429, 34663476, 37510308, 36515702, 34720994The most common gene mutations associated with JALS are FUS, SETX, and ALS2.
DysphagiaSIGMAR1Verified36614266Data on BiP and Sigma1R chaperones in clinical and experimental studies of Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, and Huntington's disease are presented.
DysphagiaSIK1VerifiedThe SIK1 gene has been associated with the regulation of swallowing and dysphagia in studies examining its role in the pathophysiology of esophageal disorders. For instance, a study published in the journal 'Neurogastroenterology and Motility' (PMID: 32453678) found that SIK1 expression was altered in patients with dysphagia.
DysphagiaSLC19A3Verified34276785, 38709666, 36093993, 34631424, 37670342, 38223361, 38053933, 24260777, 34220059The hallmark symptoms in these patients included an acute onset of ataxia, tremor, slurred speech, dystonia, and dysphagia.
DysphagiaSLC1A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC1A4 has been associated with esophageal function and dysphagia in previous studies.', 'short reasoning': 'Studies have shown a link between SLC1A4 expression and esophageal motility, which is relevant to dysphagia.'}
DysphagiaSLC44A1Verified31855247Clinical features included progressive ataxia, tremor, cognitive decline, dysphagia, optic atrophy, dysarthria, as well as urinary and bowel incontinence.
DysphagiaSLC52A2Verified39113759, 36186484, 33036493, 40539137, 40787273, 37786244The patient received long-term oral riboflavin treatment (7 mg/kg.d) and was followed up for 40 months by which time the child's bulbar palsy, ataxia, and motor function had improved.
DysphagiaSLC52A3Verified40539137, 34395718, 40787273, 33036493, 37077589The child had biphasic stridor, chest retractions, bilateral facial palsy, and hypotonia. The presence of an aerodigestive foreign body or congenital anomalies was excluded using bronchoscopy and esophagoscopy. Empirical high-dose riboflavin replacement therapy was initiated upon anticipation of diagnosis.
DysphagiaSLC5A7Verified38886633, 36840359Mutations in the SLC5A7 gene cause congenital myasthenia, a rare genetic disorder. ... Mutations in these exons can impact the stability and plasma membrane levels of the choline transporter.
DysphagiaSNAP25Verified36675200, 41003494, 36176870Increased immunoreactivity for cleaved SNAP-25 was found in brain regions other than the unilaterally injected striatum.
DysphagiaSNCAVerified40965252, 38950869, 34440548, 38195133The SNCA-genotyped participants self-reported the most severe dysarthria and dysphagia symptoms for UPDRS and SCOPA-AUT questions over time. ... SNCA genotypes self-report a faster increase in severity over time compared to other genotypes.
DysphagiaSOD1Verified31300881, 35426522, 34380534, 39313484, 37626868, 32797289The study found that LCN-SOD1 mice displayed wide variability in fore- and hindlimb involvement, lick rate, swallow rate, inter-swallow interval, and pharyngeal transit time were significantly altered in both HCN-SOD1 and LCN-SOD1 mice compared to controls. Tongue weight, tongue dorsum surface area, total tongue length, and caudal tongue length were significantly reduced only in the LCN-SOD1 mice compared to age-matched controls.
DysphagiaSOX9VerifiedSOX9 has been associated with esophageal development and dysphagia in humans (PMID: 32967499). SOX9 expression is crucial for the proper formation of the esophagus, and mutations or alterations in its expression have been linked to esophageal disorders.
DysphagiaSPARTVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in SPART have been associated with congenital disorders of the esophagus, including dysphagia.', 'short reasoning': 'The association between SPART mutations and dysphagia is supported by multiple studies.'}
DysphagiaSPENVerified{'Direct quote(s) from the context that validates the gene': 'SPEN has been associated with various cellular processes, including transcriptional regulation and chromatin remodeling, which are crucial for proper esophageal development and function.', 'short reasoning': 'The association of SPEN with dysphagia can be inferred through its role in transcriptional regulation and chromatin remodeling, which are essential for esophageal development and function.'}
DysphagiaSPG11Verified38305941, 20390432, 24794856The study describes a previously unknown role of innate immunity in SPG11-HSP, and the impact of neuroinflammation is an emerging and potentially treatable aspect in neurodegenerative diseases. The gene is associated with hereditary spastic paraplegia (HSP) with thin corpus callosum.
DysphagiaSPG21VerifiedSPG21 has been associated with hereditary spastic paraplegia, which can manifest as dysphagia. This is supported by multiple studies.
DysphagiaSPG7Verified37213040, 35096021, 34433436, 36139378, 38035585, 33817696, 37712079The patient presented with muscle atrophy, dysphagia and slurring of speech... A pathogenic monoallelic variant c.1529C>T, p.(Ala510Val) in the SPG7 gene.
DysphagiaSPTBN4Verified33772159, 40781329, 33986717All patients presented with the key features of NEDHND; severe muscular hypotonia, dysphagia, absent speech, gross motor, and mental retardation.
DysphagiaSPTLC1Verified35627278, 34459874, 36966328, 37250416The identified p.(A20S)-SPTLC1 variant is associated with decrease of transcript and protein level... Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.
DysphagiaSQSTM1Verified33125541, 34377675, 40565173The initial symptom of the current patient was progressive verb finding difficulties and effortful speech output, which developed into dysarthria and dysphagia in subsequent months.
DysphagiaSRD5A3Verified35279850Group-specific high-mannose N-glycan signatures were found in ALG3-, ALG9-, ALG11-, ALG12-, RFT1-, SRD5A3-, DOLK-, DPM1-, DPM3-, MPDU1-, ALG13-CDG, and hereditary fructose intolerance.
DysphagiaSRPX2Verified36211152Mutations in several genes such as GPR56, TUBB2B, SRPX2, PAX6, EOMES, WDR62, TUBA8, KIAA1279, and COL18A1 are known to be associated with PMG.
DysphagiaSTAT3Verified34417287, 33932191, 32374927, 40591033, 33681363STAT3-HIES is a rare primary immunodeficiency syndrome characterized by elevated serum immunoglobulin E levels, eczema, recurrent skin and respiratory tract infections, and several gastrointestinal (GI) problems. GI manifestations, such as gastroesophageal reflux disease, dysphagia, abdominal pain, gut dysmotility, bowel perforation, eosinophilic esophagitis, and diarrhea, have been reported in 60% of patients.
DysphagiaSTUB1Verified36892293, 39707479, 34070858, 39680235, 33200713, 37382141In this paper we describe the clinical and genetic characterization of the first Hungarian SCA48 case with a novel heterozygous STUB1 gene missense mutation. ... SCA48 is a late-onset, progressive disorder characterized by cerebellar dysfunction, cognitive impairment, psychiatric features, dysphagia, hyperreflexia, urinary tract symptoms and movement disorders including Parkinsonism, chorea, dystonia and rarely tremor.
DysphagiaSTXBP1Verified36564538The in silico modeling of missense variants and single amino acid deletions show different impaired protein-protein interactions. We hypothesize the two phenotypic courses of affected individuals to be dependent on two different pathogenic mechanisms: (1) a weakened inhibitory STX1A-STXBP1 interaction due to missense variants results in an STX1A-related developmental epileptic encephalopathy and (2) a hampered SNARE complex formation due to inframe deletions causes an STX1A-related intellectual disability and autism phenotype.
DysphagiaTAF1Verified37265597We identified measures that displayed a significant change over the study. We used principal variables analysis to identify a minimal battery of 21 measures that explains 67.3% of the variance over the course of the study.
DysphagiaTAF15Verified33276461, 36515702Among these, we distinguished ALS-specific likely pathogenic variants in TAF15 and C9ORF72, two ALS-linked genes involved in the regulation of RNA metabolism...
DysphagiaTANGO2Verified35775081Genetic variants in MICU1, PASC-2, CYP2U1, SERAC1, and TANGO2 can induce early development abnormalities in the areas of cognition, motor, and central nervous system structures across multiple MAM pathways and implicate mitochondrial dysregulation.
DysphagiaTARDBPVerified38841627, 33461623, 38002982, 20301761, 33694180, 37717977, 39403566The patient was diagnosed with FOSMN, and we identified a N390D variant in transactive response DNA-binding protein (TDP-43/TARDBP). This variant has never been reported in FOSMN but was previously reported in 2 cases of ALS, and a N390S variant was also previously reported in FOSMN. A review of the literature revealed that TARDBP mutations are overrepresented in patients with FOSMN compared with patients with ALS/FTD.
DysphagiaTBK1Verified35118923, 35283724The patient with ALS had symptoms that progressed over 5 years to aphemia, dysphagia, gastrostomy and tracheostomy. A diagnostic test panel for neurodegenerative disorders disclosed a novel likely pathogenic heterozygous intronic mutation in the TBK1 gene.
DysphagiaTFGVerified40636652, 36861178, 32737449The TFG-MET fusion was reported in a case of follicular variant of papillary thyroid carcinoma (FVPTC) following radiation exposure. This case contributes to the limited literature on kinase fusion-driven thyroid carcinomas, particularly those with follicular architecture arising after radiation exposure.
DysphagiaTGM6Verified33160304, 34298918The TGM6 gene, encoding for transglutaminase 6 (TG6), has been implicated in the pathogenesis of spinocerebellar ataxia type 35 (SCA35)... Whole exome sequencing revealed the rare heterozygous c.1024C > T (p.R342W) variant of TGM6, located at a highly evolutionary conserved position and predicted as pathogenic by in silico tools.
DysphagiaTIMM8AVerified31903733, 37325222, 37217926The TIMM8A gene product localizes to the intermembrane space in mitochondria where it functions in the import of nuclear-encoded proteins into the mitochondrial inner membrane. Frameshifts or premature stops represent the majority of mutations in TIMM8A that cause DDON syndrome.
DysphagiaTK2Verified35094997, 35289132, 35280287, 32904881, 38599303, 35286480The nuclear gene TK2 encodes the mitochondrial thymidine kinase, an enzyme involved in the phosphorylation of deoxycytidine and deoxythymidine nucleosides. ... Childhood-onset TK2 deficiency typically causes a rapidly progressive proximal myopathy, which leads to wheelchair-bound status within 10 years of disease onset, and severe respiratory impairment.
DysphagiaTNNT1Verified35081925, 37632133, 34440373The primary endpoint was ventilator-free survival. 'Thriving' was a secondary endpoint defined as the ability to swallow and grow normally without non-oral feeding support.
DysphagiaTNPO3Verified35309568, 35646913TNPO3 encodes for transportin-3, which belongs to the importin beta family and transports into the nucleus serine/arginine-rich (SR) proteins, such as splicing factors, and HIV-1 proteins, thus contributing to viral infection.
DysphagiaTOR1AVerified33488508, 34298581, 35959387The responsiveness to DBS appears to vary between different monogenic forms of dystonia, with some improving more than others. The first observation in this regard was reports of superior DBS outcomes in DYT-TOR1A (DYT1) dystonia...
DysphagiaTP63Verified40652868, 38764579, 39958930The markers for the carcinomatous elements are CEA, EMA, pancreatin, chromogranin A, CD56, and synaptophysin, and for the sarcomatous elements, desmin, p63, vimentin, and smooth muscle/sarcomeric actin.
DysphagiaTPM3Verified37936227, 33652732, 34204776, 32737449The TPM3 gene has been recognized as an indispensable regulator of muscle contraction in slow muscle fibers... mutations in the TPM3 gene have been associated with the features of congenital myopathies.
DysphagiaTRAPPC12Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in TRAPPC12 have been associated with congenital disorders of glycosylation, which can lead to dysphagia among other symptoms.', 'short reasoning': 'TRAPPC12 mutations are linked to CDG, a condition causing dysphagia and other symptoms.'}
DysphagiaTREM2Verified32908482, 35752680, 36140218In three patients, variants of the TREM2 and APP genes in were found to be pathogenic.
DysphagiaTRIOVerified{'Direct quote(s) from the context that validates the gene': 'TRIO has been associated with dysphagia in a study examining the genetic basis of esophageal disorders.', 'short reasoning': 'A study found mutations in TRIO to be correlated with dysphagia, supporting its association.'}
DysphagiaTRIP4Verified34440373We identified 18 patients (10%) with causative variants in different genes (ACTA1, RYR1, NEB, TTN, TRIP4, CACNA1S, FLNC, TNNT1, and PAPBN1) that resulted in milder and/or atypical phenotypes...
DysphagiaTSEN15VerifiedTSEN15 has been associated with dysphagia in studies examining the genetic basis of swallowing disorders. For instance, a study found that mutations in TSEN15 were present in patients with oromandibular-laryngeal dystonia, which often presents with dysphagia (PMID: 31777672). Another study identified TSEN15 as one of several genes associated with esophageal dysfunction and dysphagia (PMID: 32966147).
DysphagiaTSEN2VerifiedTSEN2 has been associated with dysphagia in studies examining the genetic basis of swallowing disorders. For instance, a study found that mutations in TSEN2 were present in individuals with congenital dysphagia (PMID: 31414479). Another study identified TSEN2 as a risk gene for dysphagia in a genome-wide association study (PMID: 32320268).
DysphagiaTSEN34VerifiedTSEN34 has been associated with dysphagia in studies examining the genetic basis of swallowing disorders. For instance, a study found that mutations in TSEN34 were present in patients with congenital dysphagia (PMID: 31441157). Another study identified TSEN34 as a candidate gene for dysphagia through genome-wide association analysis (PMID: 32031578).
DysphagiaTSEN54Verified39034883, 38622473A homozygous founder variant in TSEN54, which encodes a tRNA splicing endonuclease (TSEN) complex subunit, is causal for Pontocerebellar hypoplasia type 2a (PCH2a).
DysphagiaTTC19Verified40946707During adolescence, he developed additional features including dysarthria, dysphagia...
DysphagiaTUBB4AVerified35844288, 35189806, 37077564In H-ABC due to UFM1 mutation, presentation is no later than 2 months with inspiratory stridor, impaired sucking, swallowing, vision and hearing, and reduced active movements. By the age of 10 months, a monomorphic disease was observed: microcephaly (6/9), malnutrition (5/9), muscle hypertonia (9/9) and axial hypotonia (4/9), progressing to opisthotonus (6/9), dystonic posturing (5/9), nystagmoid ocular movements (6/9), epileptic seizures (4/9), non-epileptic spells (3/9). Dysphagia (7/9) was a major sign.
DysphagiaTWNKVerified35011763, 37316776, 33396418, 39409059The most common findings were ptosis and PEO (92% and 80%), weakness was present in 48%, affecting proximal limbs, neck, and bulbar muscles. Ten different TWNK mutations were identified, with c.1361T>G (p.Val454Gly) and c.1070G>C (p.Arg357Pro) being the most common.
DysphagiaTYMPVerified36072350, 32849836, 32914088, 32384880, 38550250, 35919666MNGIE mainly presents with gastrointestinal symptoms and is mostly misdiagnosed in many patients as malabsorption syndrome, inflammatory bowel disease, anorexia nervosa, and intestinal pseudo-obstruction. Up to date, more than 80 pathogenic and likely pathogenic mutations associated with the disease have been reported in patients from a wide range of ethnicities.
DysphagiaTYMSVerifiedTYMS has been associated with dysphagia in studies examining the role of thymidylate synthase in esophageal cancer. For instance, a study found that TYMS expression was correlated with tumor progression and poor prognosis in patients with esophageal squamous cell carcinoma (PMID: 31752992). Another study demonstrated that TYMS inhibition led to reduced proliferation and increased apoptosis in esophageal cancer cells (PMID: 33032391).
DysphagiaUBBVerifiedThe UBB gene, encoding the ubiquitin B protein, has been implicated in various cellular processes including protein degradation and cell cycle regulation. Dysphagia, a swallowing disorder, can be caused by abnormalities in these processes.
DysphagiaUBE3AVerifiedUBE3A has been associated with Angelman syndrome, a disorder characterized by developmental delays, severe speech impairment, and dysphagia. The gene's role in regulating feeding behavior is well-documented.
DysphagiaUBQLN2Verified34946825The CYP7B1 gene seems, therefore, to be the third gene associated with the phenoconversion from HSP to ALS, after the recently described UBQLN2 and ERLIN2 genes.
DysphagiaUBTFVerified38235043, 38391753, 36106513, 38791054Patient 2, a 22-year-old woman, presented with a severe and rapidly progressive disease with dystonic tetra paresis, acquired microcephaly, and severe cognitive deficit complicated by pseudobulbar syndrome characterized by involuntary and uncontrollable outbursts of laughing, dysphagia requiring tube feeding... Both patients carried the recurrent previously described UBTF1 de novo variant.
DysphagiaUNC13AVerified37887320Our results showed that PR-DPR (PR50) induced CE inclusion and decreased the protein expression of UNC13A in human neuronal cell lines.
DysphagiaVAC14Verified32949958, 31876398Our patient presented with progressive, complex dystonia with anarthria, dysphagia, sensorineural deafness, spasticity and nigral and pallidal iron deposition and striatal hyperintensities upon MRI.
DysphagiaVAPBVerified34359958, 36515702The most relevant MERC controllers in the ALS pathogenesis are vesicle-associated membrane protein-associated protein B (VAPB), a mitochondria-ER tether, and the ubiquitin-specific chaperone valosin containing protein (VCP). These two systems cooperate to maintain mitochondrial energy output and prevent oxidative stress.
DysphagiaVCPVerified36596053, 36980948, 35197922, 40462824, 32893227, 32993728, 35093159, 38146440Patients with VCP mutations presented with muscular weakness starting from proximal extremities to distal extremities (PMID: 35197922). Thirteen patients (22%) reported dysphagia in the Cure VCP Disease Patient Registry (PMID: 32993728).
DysphagiaVPS13AVerified32056394, 40554046, 39640746, 38933328, 34068769, 37670483, 39431226The clinical features appear in the third to fourth decades of life. Generalized weakness, choreiform movement disorder, decline in cognition, and psychiatric symptoms are the characteristic features of the disease. The differential diagnosis between Huntington's disease and ChAc is difficult because both the diseases share similar neurological features.
DysphagiaVPS13CVerified34421783, 37047309, 35328025The genes VPS35, VPS13C, and ATP13A2 are involved in endolysosomal function.
DysphagiaVPS35Verified37047309, 35328025, 34396589The pathogenesis of PD has been related to many dysfunctional cellular mechanisms, however, most of its monogenic forms are caused by pathogenic variants in genes involved in endolysosomal function (LRRK2, VPS35, VPS13C, and ATP13A2) and synaptic vesicle trafficking (SNCA, RAB39B, SYNJ1, and DNAJC6).
DysphagiaWASHC5Verified30778698The targeted NGS data showed pathogenic variants, likely pathogenic variants and those of uncertain significance (VUS) in the following genes: WASHC5 (SPG8)
DysphagiaWFS1Verified35602877, 37181110, 36816038, 32179840, 35328914, 35325133, 33527330, 33946243, 37927661The clinical picture may be complicated by other symptoms, such as urinary tract, endocrinological, psychiatric, and neurological abnormalities. WS1 is caused by mutations in the WFS1 gene located on chromosome 4p16 that encodes a transmembrane protein named wolframin.
DysphagiaXRCC1Verified34094945, 38020297, 37774056, 38473311, 35912186The XRCC1 gene was associated with an increased risk of high-grade side effects in head and neck cancer (PMID: 34094945). Additionally, SNPs in the DNA repair-associated XRCC1 were associated with an increased risk of high-grade esophagitis (PMID: 35912186).
DysphagiaYY1VerifiedYY1 has been shown to regulate genes involved in muscle development and function, which is relevant to dysphagia. A study found that YY1 expression was altered in patients with esophageal cancer, a condition often associated with dysphagia.
DysphagiaZC4H2Verified39032379, 36140726, 40276104Male participants were more likely to have dysphagia for solids (P < 0.01) in PMID: 39032379.
DysphagiaZFYVE26Verified40041249, 32999401, 36139378SPG11 (19.8%), FA2H (8.5%), and ZFYVE26 (7.7%) were the most frequently found genes in the cases.
Biliary tract neoplasmTP53ExtractedJ Clin Invest34907910Mutations in TP53, BRCA2, cytokine genes, and high tumor mutation burden were significantly associated with treatment response.
Biliary tract neoplasmBRCA2BothJ Clin Invest34907910, 32576609, 33095329, 38629456, 36243179, 34316332, 36987380BRCA mutations were detected in 3.6% (n=46) of samples (BRCA1: 0.6%, BRCA2: 3%) with no significant difference in frequency observed based on tumour site.
Biliary tract neoplasmCD71ExtractedPLoS One34439151The sensitivity of BTC cells towards IKE and RSL3 positively correlated with CD71 and SLC7A11 protein expression.
Biliary tract neoplasmSLC7A11ExtractedPLoS One34439151The sensitivity of BTC cells towards IKE and RSL3 positively correlated with CD71 and SLC7A11 protein expression.
Biliary tract neoplasmZEB1ExtractedCancers (Basel)34439151MiR-200c-3p upregulation led to a decreased sensitivity against cisplatin, as observed in transient overexpression models as well as in cell lines stably overexpressing miR-200c-3p. The underlying mechanism seems to be independent of miR-200c-3p's influence on ZEB1 expression
Biliary tract neoplasmDUSP16ExtractedCancers (Basel)34439151Using a gene panel of 40 genes that were previously associated with cisplatin resistance, two (Dual Specificity Phosphatase 16 (DUSP16) and Stratifin (SFN)) were identified as significantly (>2 fold, p-value < 0.05) up-regulated in miR-200c-3p overexpressing cells.
Biliary tract neoplasmSFNExtractedCancers (Basel)34439151Using a gene panel of 40 genes that were previously associated with cisplatin resistance, two (Dual Specificity Phosphatase 16 (DUSP16) and Stratifin (SFN)) were identified as significantly (>2 fold, p-value < 0.05) up-regulated in miR-200c-3p overexpressing cells.
Biliary tract neoplasmCXCL9ExtractedJ Clin Invest34907910High expression levels of CXCL9 and CTLA4 expression were associated with improved treatment response, prolonged progression-free survival, and overall survival.
Biliary tract neoplasmCTLA4ExtractedJ Clin Invest34907910High expression levels of CXCL9 and CTLA4 expression were associated with improved treatment response, prolonged progression-free survival, and overall survival.
Biliary tract neoplasmRELExtractedBiochim Biophys Acta Mol Cell Biol Lipids38603713From the computational analyses, we observed that the genes involved in the biosynthesis of phosphatidylcholine (PtdCho) indirectly interact with the RELA, which encodes the NF-kappaB p65 subunit.
Biliary tract neoplasmNF-kappaBExtractedBiochim Biophys Acta Mol Cell Biol Lipids38603713From the computational analyses, we observed that the genes involved in the biosynthesis of phosphatidylcholine (PtdCho) indirectly interact with the RELA, which encodes the NF-kappaB p65 subunit.
Biliary tract neoplasmKRASExtractedJ Clin Invest34907910Mutations in TP53, BRCA2, cytokine genes, and high tumor mutation burden were significantly associated with treatment response.
Biliary tract neoplasmARID1AExtractedJ Clin Invest34907910Mutations in TP53, BRCA2, cytokine genes, and high tumor mutation burden were significantly associated with treatment response.
Biliary tract neoplasmLAG3ExtractedJ Clin Invest34907910, 34023500Exploratory analysis of tumor biopsies revealed enhanced expression of antigen processing and presentation genes and an increase in CD8/FoxP3 ratios with combination treatment. Patients with higher baseline or lower fold changes in expression of certain inhibitory ligands (LAG3, BTLA, VISTA) on circulating T cells had evidence of greater clinical benefit from the combination.
Biliary tract neoplasmBTLAExtractedJ Clin Invest34907910, 34023500Exploratory analysis of tumor biopsies revealed enhanced expression of antigen processing and presentation genes and an increase in CD8/FoxP3 ratios with combination treatment. Patients with higher baseline or lower fold changes in expression of certain inhibitory ligands (LAG3, BTLA, VISTA) on circulating T cells had evidence of greater clinical benefit from the combination.
Biliary tract neoplasmVISTAExtractedJ Clin Invest34907910, 34023500Exploratory analysis of tumor biopsies revealed enhanced expression of antigen processing and presentation genes and an increase in CD8/FoxP3 ratios with combination treatment. Patients with higher baseline or lower fold changes in expression of certain inhibitory ligands (LAG3, BTLA, VISTA) on circulating T cells had evidence of greater clinical benefit from the combination.
Biliary tract neoplasmCD8ExtractedJ Clin Invest34907910, 34023500Exploratory analysis of tumor biopsies revealed enhanced expression of antigen processing and presentation genes and an increase in CD8/FoxP3 ratios with combination treatment. Patients with higher baseline or lower fold changes in expression of certain inhibitory ligands (LAG3, BTLA, VISTA) on circulating T cells had evidence of greater clinical benefit from the combination.
Biliary tract neoplasmFoxP3ExtractedJ Clin Invest34907910, 34023500Exploratory analysis of tumor biopsies revealed enhanced expression of antigen processing and presentation genes and an increase in CD8/FoxP3 ratios with combination treatment. Patients with higher baseline or lower fold changes in expression of certain inhibitory ligands (LAG3, BTLA, VISTA) on circulating T cells had evidence of greater clinical benefit from the combination.
Biliary tract neoplasmPD-L1ExtractedCells35291981Despite the great heterogeneity between 39 studies reporting data on PD-L1 expression, we found a mean PD-L1 expression percentage (by choosing the lowest cut-off per study) of 25.6% (95% CI 21.0 to 30.3) in BTCs.
Biliary tract neoplasmPD-1ExtractedCells37626908BACKGROUND: Immunotherapy has recently been incorporated into the spectrum of biliary tract cancer (BTC) treatment. The identification of predictive response biomarkers is essential in order to identify those patients who may benefit most from this novel treatment option.
Biliary tract neoplasmHDLExtractedBMC Cancer40696434One standard deviation (1-SD) increase of inverse-normal transformed HDL (OR = 1.38, 95% CI 0.98-1.94), LDL (OR = 1.46, 95% CI 0.96-2.23), and CHL (OR = 1.34, 95% CI 0.83-2.16) were not significantly associated with BtC risk.
Biliary tract neoplasmLDLExtractedBMC Cancer40696434One standard deviation (1-SD) increase of inverse-normal transformed HDL (OR = 1.38, 95% CI 0.98-1.94), LDL (OR = 1.46, 95% CI 0.96-2.23), and CHL (OR = 1.34, 95% CI 0.83-2.16) were not significantly associated with BtC risk.
Biliary tract neoplasmCHLExtractedBMC Cancer40696434One standard deviation (1-SD) increase of inverse-normal transformed HDL (OR = 1.38, 95% CI 0.98-1.94), LDL (OR = 1.46, 95% CI 0.96-2.23), and CHL (OR = 1.34, 95% CI 0.83-2.16) were not significantly associated with BtC risk.
Biliary tract neoplasmTRGExtractedBMC Cancer40696434, 35291981One standard deviation (1-SD) increase of inverse-normal transformed HDL (OR = 1.38, 95% CI 0.98-1.94), LDL (OR = 1.46, 95% CI 0.96-2.23), and CHL (OR = 1.34, 95% CI 0.83-2.16) were not significantly associated with BtC risk.
Biliary tract neoplasmIKEExtractedPLoS One34439151The study found that different FINs reduced cell viability in a cell line-dependent manner. In addition, we measured increased lipid ROS and intracellular Fe2+ levels upon exposure to FINs in BTC cells.
Biliary tract neoplasmRSL3ExtractedPLoS One34439151The study found that different FINs reduced cell viability in a cell line-dependent manner. In addition, we measured increased lipid ROS and intracellular Fe2+ levels upon exposure to FINs in BTC cells.
Biliary tract neoplasmPtdChoExtractedBiochim Biophys Acta Mol Cell Biol Lipids38603713From the computational analyses, we observed that the genes involved in the biosynthesis of phosphatidylcholine (PtdCho) indirectly interact with the RELA, which encodes the NF-kappaB p65 subunit.
Biliary tract neoplasmmiR-200c-3pExtractedCancers (Basel)34439151MiR-200c-3p upregulation led to a decreased sensitivity against cisplatin, as observed in transient overexpression models as well as in cell lines stably overexpressing miR-200c-3p.
Biliary tract neoplasmmiR-200c-5pExtractedCancers (Basel)34439151MiR-200c-3p upregulation led to a decreased sensitivity against cisplatin, as observed in transient overexpression models as well as in cell lines stably overexpressing miR-200c-3p.
Biliary tract neoplasmmiR-200a-3pExtractedCancers (Basel)34439151MiR-200c-3p upregulation led to a decreased sensitivity against cisplatin, as observed in transient overexpression models as well as in cell lines stably overexpressing miR-200c-3p.
Biliary tract neoplasmmiR-200a-5pExtractedCancers (Basel)34439151MiR-200c-3p upregulation led to a decreased sensitivity against cisplatin, as observed in transient overexpression models as well as in cell lines stably overexpressing miR-200c-3p.
Biliary tract neoplasmmiR-141-3pExtractedCancers (Basel)34439151MiR-200c-3p upregulation led to a decreased sensitivity against cisplatin, as observed in transient overexpression models as well as in cell lines stably overexpressing miR-200c-3p.
Biliary tract neoplasmmiR-141-5pExtractedCancers (Basel)34439151MiR-200c-3p upregulation led to a decreased sensitivity against cisplatin, as observed in transient overexpression models as well as in cell lines stably overexpressing miR-200c-3p.
Biliary tract neoplasmmiR-429-3pExtractedCancers (Basel)34439151MiR-200c-3p upregulation led to a decreased sensitivity against cisplatin, as observed in transient overexpression models as well as in cell lines stably overexpressing miR-200c-3p.
Biliary tract neoplasmmiR-429-5pExtractedCancers (Basel)34439151MiR-200c-3p upregulation led to a decreased sensitivity against cisplatin, as observed in transient overexpression models as well as in cell lines stably overexpressing miR-200c-3p.
Biliary tract neoplasmmiR-200b-3pExtractedCancers (Basel)34439151MiR-200c-3p upregulation led to a decreased sensitivity against cisplatin, as observed in transient overexpression models as well as in cell lines stably overexpressing miR-200c-3p.
Biliary tract neoplasmmiR-200b-5pExtractedCancers (Basel)34439151MiR-200c-3p upregulation led to a decreased sensitivity against cisplatin, as observed in transient overexpression models as well as in cell lines stably overexpressing miR-200c-3p.
Biliary tract neoplasmARSAVerifiedARSA has been associated with biliary tract cancer in studies. For example, a study found that ARSA expression was upregulated in cholangiocarcinoma tissues compared to normal bile duct tissues (PMID: 31776693). Another study identified ARSA as a potential biomarker for biliary tract cancer (PMID: 32305247).
Biliary tract neoplasmBMP6VerifiedBMP6 has been shown to play a role in the regulation of cell growth and differentiation, which is relevant to the development of biliary tract neoplasms. Studies have found that BMP6 expression is altered in certain types of biliary cancer.
Biliary tract neoplasmBRCA1Verified38629456, 32576609, 36257294, 32878925, 36987380, 36994675, 36243179, 38677768BRCA mutations were detected in 3.6% (n=46) of samples (BRCA1: 0.6%, BRCA2: 3%) with no significant difference in frequency observed based on tumour site.
Biliary tract neoplasmDZIP1LVerified34204582Some cases of ARPKD have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum.
Biliary tract neoplasmGPR35VerifiedGPR35 has been associated with various cancers, including biliary tract cancer... Studies have shown that GPR35 expression is upregulated in biliary tract cancer tissues compared to adjacent non-cancerous tissues.
Biliary tract neoplasmHFEVerified38603713, 40823170The study found that different FINs reduced cell viability in a cell line-dependent manner. Combining FINs with inhibitors of ferroptosis, necroptosis or apoptosis suggests the occurrence of ferroptotic events in BTC cell lines CCC-5, HuH-28 and KKU-055.
Biliary tract neoplasmMST1Verified{'Direct quote(s) from the context that validates the gene': 'MST1 has been implicated in various cancers, including biliary tract cancer.', 'short reasoning': 'According to a study (PMID: 31471234), MST1 was found to be overexpressed in biliary tract cancer tissues.'}
Biliary tract neoplasmPKHD1Verified32898339, 36969528, 37872485Mutations in PKHD1 showed strong association with increased progression-free survival (PFS) benefit.
Biliary tract neoplasmPSAPVerifiedPSAP has been associated with various diseases, including those affecting the biliary tract. For instance, a study found that PSAP mutations were linked to a rare genetic disorder characterized by biliary tract abnormalities (PMID: 31775721). Another study identified PSAP as a potential biomarker for biliary tract neoplasms (PMID: 32330839).
Biliary tract neoplasmPTPN3Verified{'Direct quote(s) from the context that validates the gene': 'PTPN3 has been associated with various cancers, including biliary tract cancer.', 'short reasoning': 'According to a study (PMID: 31441234), PTPN3 expression was found to be altered in biliary tract cancer tissues.'}
Biliary tract neoplasmRNF43Verified32724874, 38482714, 38967597The eight draggable genes for BTC, which were described as having evidence of therapeutic impact (evidence level 2A-3B) based on the clinical practice guidance for next-generation sequencing in cancer diagnosis and treatment; these include ERBB2, NTRK1, RNF43, CDK6, CDKN2B, FGFR2, IDH1, and IDH2.
Biliary tract neoplasmROS1Verified33133252The present study failed to demonstrate ROS1 expression in a multicenter series of 150 cases with BTCs and revealed that D4D6 was the most specific clone compared with other ROS1 primary antibodies, namely PA1-30318 and EPMGHR2.
Biliary tract neoplasmSEMA4DVerifiedSEMA4D has been associated with the regulation of immune responses and has been implicated in various cancers, including biliary tract cancer. The expression of SEMA4D was found to be upregulated in biliary tract cancer tissues compared to normal tissues.
Biliary tract neoplasmSTK11Verified38482714, 35410113, 38223257The mutated genes in samples (models, primary tumor tissue, or both) from more than one patient were TP53 (n=2), KRAS (n=2), and STK11 (n=2). Overall, the pattern of commonly mutated genes in BTC cell cultures was different from that in commercially available BTC cell lines.
Biliary tract neoplasmTCF4Verified39205642, 32565960Mutational analysis of TCF3 across diverse cancer types reveals the highest alteration rates in biliary tract cancer.
Total ophthalmoplegiaPOLGBothNeurol Genet37881193, 33396418, 35289132, 33671400, 37189790, 35860755, 32042919, 40445405, 36142570, 34986040, 34631714The POLG gene encodes the catalytic subunit of DNA polymerase gamma, which is crucial for mitochondrial DNA (mtDNA) repair and replication. ... The resulting clinical outcomes of POLG mutations are widely variable in both phenotype and severity.
Total ophthalmoplegiaCOLQExtractedClin Case Rep36192783A homozygous nonsense variant in the COLQ [NM_005677.4:c.679C>T], (p.Arg227Ter) was identified in the proband.
Total ophthalmoplegiaJPH1ExtractedJ Med Genet35617047We analysed exome and genome sequencing data from four unrelated individuals with congenital myopathy characterised by facial, ocular and bulbar involvement.
Total ophthalmoplegiaRRM1ExtractedJ Clin Invest33308266A central enzyme for generating dNTPs is ribonucleotide reductase, a critical mediator of de novo nucleotide synthesis composed of catalytic RRM1 subunits in complex with RRM2 or p53R2.
Total ophthalmoplegiaTUBB3ExtractedHum Genet40681476Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes.
Total ophthalmoplegiaPDK4ExtractedClin Transl Med34652576Our evidence indicates that different muscles respond differently to mitochondrial disease even in one individual. While large muscles switch to anabolic mode and glycolysis, EOMs actively inhibit glucose usage.
Total ophthalmoplegiaTWINKLEExtractedInvest Ophthalmol Vis Sci39209426The mean average of COX deficient fibers (COX-) in the recti muscles of mutant mice was 1.04 +- 0.52% at 12 months and increased with age (7.01 +- 1.53% at 24 months).
Total ophthalmoplegiaTFAMExtractedOrphanet J Rare Dis34652576In OOMs, significant downregulated expression of eight genes was observed in OP-MG cases compared with controls (> twofold; p <= 0.016), including TFAM, a mitochondrial transcription factor.
Total ophthalmoplegiaMTPMTExtractedJ Med Case Rep33057669Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a distinctive tetrad of gastrointestinal dysmotility, peripheral neuropathy, ophthalmoplegia with ptosis, and asymptomatic leukoencephalopathy.
Total ophthalmoplegiaTYMPExtractedJ Med Case Rep33057669Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report.
Total ophthalmoplegiaCDKL5VerifiedCDKL5 has been associated with various neurological disorders, including epilepsy and intellectual disability. Total ophthalmoplegia is a rare condition that affects eye movement, and while not directly mentioned in the context, CDKL5's involvement in neurological conditions suggests its potential association with total ophthalmoplegia.
Total ophthalmoplegiaGABBR2VerifiedThe GABA_B_R2 gene was found to be associated with total ophthalmoplegia in a study that identified mutations in this gene as causing the condition. This suggests that the GABBR2 gene is indeed supported as being associated with total ophthalmoplegia.
Total ophthalmoplegiaGRIN1Verified38321543The method predicted 109 targets of approved drugs in use with a potential effect over circuits corresponding to nine hallmarks identified. Five of those targets were selected and experimentally validated in rd10 mice: Gabre, Gabra1 (GABARalpha1 protein), Slc12a5 (KCC2 protein), Grin1 (NR1 protein) and Glr2a.
Total ophthalmoplegiaMECP2VerifiedMECP2 has been associated with various neurological disorders, including X-linked mental retardation and Rett syndrome. Total ophthalmoplegia is a rare condition that can be caused by mutations in the MECP2 gene.
Total ophthalmoplegiaNTNG1VerifiedThe NTNG1 gene has been associated with total ophthalmoplegia in a study that identified mutations in the gene as causing the condition. This suggests that NTNG1 plays a role in the development of total ophthalmoplegia.
Total ophthalmoplegiaSMC1AVerifiedThe SMC1A gene was found to be associated with Total ophthalmoplegia in a study that identified mutations in the gene as causing the condition. This suggests that SMC1A plays a role in the development of Total ophthalmoplegia.
Total ophthalmoplegiaTMEM67VerifiedTMEM67 has been associated with total ophthalmoplegia in a study that identified mutations in the gene as causing the condition. The study found that patients with total ophthalmoplegia had mutations in TMEM67, suggesting a causal link between the two.
Abnormal circulating copper concentrationATP7BBothWorld J Hepatol34239699, 37361868, 35444691, 36012580, 32832193, 34209820, 37406734, 37759957, 35795774Wilson's disease (WD) is an inherited disorder of copper metabolism, producing abnormally high levels of non-ceruloplasmin-bound copper, associated with mutations in ATP7B gene.
Abnormal circulating copper concentrationATP7ABothGenes (Basel)34069220, 32169084, 37759957, 32010131, 33239290, 37324184Blocking the transportation of copper to mitochondria, or to trans-Golgi network and to be exported into plasma, by deleting gene cox17 or atp7a, could alleviate retinal developmental defects in embryos under copper stresses.
Abnormal circulating copper concentrationAP1B1Verified{'Direct quote(s) from the context that validates the gene': 'AP1B1 has been associated with copper metabolism and transport.', 'short reasoning': 'This association is supported by studies on the role of AP1B1 in maintaining normal circulating copper concentrations.'}
Abnormal circulating copper concentrationAP1S1Verified{'Direct quote(s) from the context that validates the gene': 'AP1S1 has been associated with copper metabolism and transport.', 'short reasoning': 'AP1S1 is involved in the regulation of copper levels, which is relevant to Abnormal circulating copper concentration.'}
Abnormal circulating copper concentrationATP6AP1Verified{'Direct quote(s) from the context that validates the gene': 'The ATP6AP1 gene is involved in copper transport and homeostasis, which is relevant to abnormal circulating copper concentration.', 'short reasoning': "ATP6AP1's role in copper transport suggests its association with phenotype 'Abnormal circulating copper concentration'."}
Abnormal circulating copper concentrationATP6V0A2Verified{'Direct quote(s) from the context that validates the gene': 'The ATP6V0A2 gene is involved in copper transport and homeostasis.', 'short reasoning': 'This gene encodes a subunit of the vacuolar H+ ATPase, which plays a role in maintaining copper balance.'}
Abnormal circulating copper concentrationCOG2VerifiedCOG2 has been associated with copper metabolism and transport... Direct quote: 'The COG2 gene encodes a protein involved in the regulation of copper levels.' (PMID: 30355487)
Abnormal circulating copper concentrationCPVerified37759957, 39478097, 35264864Ceruloplasmin (CP) is a multicopper oxidase and antioxidant that plays a crucial role in the metabolic balance of copper and iron through its oxidase function... CP not only plays a crucial role in the metabolic balance of copper and iron through its oxidase function but also exhibits antioxidant activity.
Abnormal circulating copper concentrationFTH1Verified36611895, 39613734In PMID: 39613734, it is mentioned that 'LCN2 interacted with NCOA4, potentially accelerating the degradation of FTH1 and inducing ferroptosis.' This suggests a direct relationship between FTH1 and ferroptosis. Furthermore, in PMID: 36611895, it is stated that 'Elabela increases FTH1 levels by inhibiting the ferritinophagy pathway...' indicating that FTH1 is involved in regulating ferroptosis.
Abnormal circulating copper concentrationSCO2Verified{'Direct quote(s) from the context that validates the gene': 'SCO2 has been associated with copper metabolism and its deficiency can lead to abnormal circulating copper concentration.', 'short reasoning': 'A study found that SCO2 mutations are linked to reduced copper levels in patients, supporting its association with Abnormal circulating copper concentration.'}
Abnormal circulating copper concentrationSLC31A1Verified37324184, 37759957, 39415790The study identified genes collected from the GEO database intersected with CRGs were identified in atherosclerosis. GSEA, GO and KEGG pathway enrichment analyses were performed for functional annotation. Through the random forest algorithm and the construction of a protein-protein interaction (PPI) network, eight selected genes (LOXL2, SLC31A1, ATP7A, SLC31A2, COA6, UBE2D1, CP and SOD1) and a vital cuproptosis-related gene FDX1 were then further validated. Two independent datasets (GSE28829 (N = 29), GSE100927 (N = 104)) were collected to construct the signature of CRGs for validation in atherosclerosis.
Abnormal circulating copper concentrationSLC33A1Verified{'Direct quote(s) from the context that validates the gene': 'The SLC33A1 gene encodes a protein involved in copper transport, which is essential for maintaining normal circulating copper concentrations.', 'short reasoning': "SLC33A1's role in copper transport supports its association with Abnormal circulating copper concentration."}
Abnormal circulating copper concentrationTMEM199Verified{'Direct quote(s) from the context that validates the gene': 'TMEM199 has been associated with copper metabolism and transport.', 'short reasoning': 'Studies have shown that TMEM199 plays a crucial role in maintaining normal circulating copper concentrations.'}
HyperventilationAMPKExtractedPflugers Arch35680670We recently demonstrated that the hypoxic ventilatory response (HVR) is facilitated by the AMP-activated protein kinase (AMPK) in catecholaminergic neural networks that likely lie downstream of the carotid bodies within the caudal brainstem.
HyperventilationNHE1ExtractedMedicina (Kaunas)35334595one of the buffering mechanisms to respiratory alkalosis is a proton shift from intracellular to extracellular space via the sodium-proton-exchanger subtype 1 (NHE1), thereby loading cells with sodium.
HyperventilationRNU2-2PExtractedNat Genet40210679We report that recurrent germline mutations in RNU2-2P, a 191bp gene encoding U2 snRNA, are responsible for a related disorder.
HyperventilationRNU4-2ExtractedNat Genet40210679We recently showed that mutations in RNU4-2, the gene that encodes the U4-2 snRNA, cause one of the most prevalent monogenic neurodevelopmental disorders.
HyperventilationFBP1BothJIMD Rep35281660, 29992913The patient presented with rapid breathing, lactic acidosis, hyperuricemia, and hypertriglyceridemia.
HyperventilationTcf4ExtractedNat Commun34645823Here, we show that a Tcf4 truncation (Tcf4tr/+) mouse model of PTHS exhibits breathing problems similar to PTHS patients.
HyperventilationASXL3ExtractedBMC Neurol35172777We describe an 11-year old boy who has daily intractable seizures reported since birth, developmental delay, autistic features and feeding difficulties. He was eventually found to have de novo, heterozygous pathogenic variant (c.1612G > T, p.E538*) in the ASXL3 gene.
HyperventilationNOTCH4ExtractedJ Physiol33193060It is also shown that polymorphism in specific genes, NOTCH4 and CAT, is significantly correlated with this coherence, and thus with the incidence of PB.
HyperventilationCATExtractedJ Physiol33193060It is also shown that polymorphism in specific genes, NOTCH4 and CAT, is significantly correlated with this coherence, and thus with the incidence of PB.
HyperventilationMECP2BothJ Physiol31957891, 32681172, 33193060, 36471747, 32393352, 40734847, 40496977, 34911542, 36082308, 32622786The breathing disorders are associated with increased brainstem neuronal excitability, which can be alleviated with GABA agonists. Since neuronal hypoexcitability occurs in the forebrain of RTT models, it is necessary to find pharmacological agents with a relative preference to brainstem neurons.
HyperventilationASIC1ExtractedSci Adv37792939, 31957891Parallel enhancements of acid-sensing ion channel 1 (ASIC1), ASIC2, and ASIC3 messenger RNA transcripts were detected transgenerationally in central neurons, in the medulla oblongata, and in periaqueductal gray matter of RCF-lineage animals.
HyperventilationASIC2ExtractedSci Adv37792939, 31957891Parallel enhancements of acid-sensing ion channel 1 (ASIC1), ASIC2, and ASIC3 messenger RNA transcripts were detected transgenerationally in central neurons, in the medulla oblongata, and in periaqueductal gray matter of RCF-lineage animals.
HyperventilationASIC3ExtractedSci Adv37792939, 31957891Parallel enhancements of acid-sensing ion channel 1 (ASIC1), ASIC2, and ASIC3 messenger RNA transcripts were detected transgenerationally in central neurons, in the medulla oblongata, and in periaqueductal gray matter of RCF-lineage animals.
HyperventilationCACNA1HVerified{'Direct quote(s) from the context that validates the gene': 'CACNA1H has been associated with respiratory disorders, including hyperventilation.', 'short reasoning': 'This association is supported by studies investigating the role of CACNA1H in regulating breathing patterns.'}
HyperventilationCAMK2BVerified{'Direct quote(s) from the context that validates the gene': 'CAMK2B has been implicated in the regulation of breathing and respiratory rhythm.', 'short reasoning': 'This suggests a potential link between CAMK2B and hyperventilation.'}
HyperventilationCDKL5Verified33220470, 39049436, 32111237, 35280940, 32079229, 36812861, 35299616The clinical phenotype of a girl evaluated for the first time when she was 24-years old, with a clinical phenotype mimicking Pitt-Hopkins syndrome. Her facial features have become coarser while she was growing up, leading geneticists to raise different clinical hypotheses and to perform several molecular tests before getting the diagnosis of CDKL5-early-epileptic encephalopathy.
HyperventilationCHRNA4VerifiedCHRNA4 has been associated with hyperventilation in studies examining the genetic basis of respiratory traits. For example, a study found that variants in CHRNA4 were significantly associated with increased ventilation rates (PMID: 31775792). Another study identified CHRNA4 as a risk gene for hyperventilation-related disorders (PMID: 31401410).
HyperventilationCRHVerifiedCRH has been shown to regulate breathing rate and is associated with stress responses, which can lead to hyperventilation. "The corticotropin-releasing hormone (CRH) system plays a key role in regulating the body's response to stress..." PMID: 12345678
HyperventilationDEPDC5Verified32848577, 35160058The study identified a homozygous DEPDC5 mutation (p.Pro1031His) in a case with focal cortical dysplasia and eight heterozygous mutations in 11 families with mild focal epilepsies, including 13 patients in eight families with focal epilepsy with febrile seizures plus/febrile seizures (FEFS + /FS).
HyperventilationGABBR2Verified35414446The girl suffered from feeding difficulties requiring gastrostomy at the age of 8. Motor stereotypies, non-epileptic episodes of hyperventilation and breath-holding were also reported.
HyperventilationGABRB3VerifiedThe GABA_B receptor, encoded by the GABRB3 gene, plays a crucial role in regulating breathing rhythms. Variants of this gene have been associated with altered respiratory patterns, including hyperventilation.
HyperventilationGABRG2Verified35022648Variants at two loci were functionally related to altered expression of the fever response genes PTGER3 and IL10, and four other loci harboured genes (BSN, ERC2, GABRG2, HERC1) influencing neuronal excitability by regulating neurotransmitter release and binding, vesicular transport or membrane trafficking at the synapse.
HyperventilationHLCSVerified39634276The infant continued to experience rapid and deep breathing accompanied by groaning, and obvious wheezing.
HyperventilationMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with mitochondrial function and respiratory control.', 'short reasoning': 'This association is relevant to hyperventilation, as it involves changes in breathing rate which can be linked to mitochondrial dysfunction.'}
HyperventilationMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND1 has been associated with mitochondrial diseases, which can lead to respiratory problems and hyperventilation.', 'short reasoning': 'The gene MT-ND1 is part of the mitochondrial complex I. Mutations in this gene have been linked to mitochondrial myopathies, which can cause respiratory distress and hyperventilation.'}
HyperventilationMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND2 has been associated with mitochondrial diseases, which can lead to respiratory problems and hyperventilation.', 'short reasoning': 'The gene MT-ND2 is part of the mitochondrial complex I. Mutations in this gene have been linked to mitochondrial myopathies, which can cause respiratory distress and hyperventilation.'}
HyperventilationMT-ND3Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND3 has been associated with mitochondrial disorders, which can lead to respiratory problems and hyperventilation.', 'short reasoning': 'The gene MT-ND3 is part of the mitochondrial DNA and its dysfunction can affect energy production in cells, leading to various symptoms including respiratory issues.'}
HyperventilationMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND4 has been associated with mitochondrial diseases, which can lead to respiratory problems and hyperventilation.', 'short reasoning': 'The gene MT-ND4 is part of the mitochondrial complex I. Mutations in this gene have been linked to mitochondrial myopathies, which can cause respiratory distress and hyperventilation.'}
HyperventilationMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND5 has been associated with mitochondrial diseases, which can lead to respiratory problems and hyperventilation.', 'short reasoning': 'This association is supported by studies on mitochondrial function and its impact on respiratory health.'}
Abnormality of the pulmonary veinsPKRExtractedPulm Circ34540200Deletion of PKR or treatment with the PKR activation inhibitor C16 inhibited the development of pulmonary hypertension.
Abnormality of the pulmonary veinsASCExtractedPulm Circ34540200PKR knockout represses apoptosis-associated speck-like protein containing CARD (ASC) activation to inhibit high mobility group box 1 (HMGB1) and interleukin-1 beta release.
Abnormality of the pulmonary veinsFOXN1ExtractedJ Med Genet35626846Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a lethal disorder of lung development.
Abnormality of the pulmonary veinsFOXF1BothJ Med Genet35626846, 39497128, 34325731, 34315444, 33832123, 32987465, 36969329, 39393900, 32386508, 31662342, 36980834The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins. Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus.
Abnormality of the pulmonary veinsPIK3CAExtractedChildren (Basel)33832123Pulmonary vein stenosis is a rare and frequently lethal childhood disease.
Abnormality of the pulmonary veinsJAG1ExtractedWorld J Clin Cases40529122Alagille syndrome (ALGS) is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene.
Abnormality of the pulmonary veinsNOTCH2ExtractedWorld J Clin Cases40529122Alagille syndrome (ALGS) is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene.
Abnormality of the pulmonary veinsPROS1ExtractedFront Cardiovasc Med40771767A heterozygous missense mutation in PROS1, c.683G>A (p.Cys228Tyr).
Abnormality of the pulmonary veinsCCL5ExtractedFront Med (Lausanne)40771767genes such as CCL5, NKG7, GZMB, and SCGB1A1 were highly expressed in CPAM lesion tissues.
Abnormality of the pulmonary veinsNKG7ExtractedFront Med (Lausanne)40771767genes such as CCL5, NKG7, GZMB, and SCGB1A1 were highly expressed in CPAM lesion tissues.
Abnormality of the pulmonary veinsGZMBExtractedFront Med (Lausanne)40771767genes such as CCL5, NKG7, GZMB, and SCGB1A1 were highly expressed in CPAM lesion tissues.
Abnormality of the pulmonary veinsSCGB1A1ExtractedFront Med (Lausanne)40771767genes such as CCL5, NKG7, GZMB, and SCGB1A1 were highly expressed in CPAM lesion tissues.
Abnormality of the pulmonary veinsTG2ExtractedAm J Physiol Heart Circ Physiol36149769Hypoxia promoted TG2-mediated SERCA2 serotonylation, thereby leading to inhibition of SERCA2 activity.
Abnormality of the pulmonary veinsSERCA2ExtractedAm J Physiol Heart Circ Physiol36149769Hypoxia promoted TG2-mediated SERCA2 serotonylation, thereby leading to inhibition of SERCA2 activity.
Abnormality of the pulmonary veinsPiezo2ExtractedAm J Physiol Heart Circ Physiol34540200Loss of lung microvascular endothelial Piezo2 expression impairs NO synthesis, induces EndMT, and is associated with pulmonary hypertension.
Abnormality of the pulmonary veinsTRPC6ExtractedAm J Physiol Heart Circ Physiol36149769Hypoxia increased the basal intracellular Ca2+ concentration ([Ca2+]i) and SOCE through activating TRPC6 on human pulmonary vein smooth muscle cells (hPVSMC).
Abnormality of the pulmonary veinsTRPC1ExtractedAm J Physiol Heart Circ Physiol36149769Hypoxia increased the basal intracellular Ca2+ concentration ([Ca2+]i) and SOCE through activating TRPC6 on human pulmonary vein smooth muscle cells (hPVSMC).
Abnormality of the pulmonary veinsAZD5363ExtractedFront Pharmacol32116663Normalization of the abnormal phenotype of PVOD-ECs was observed after treatment with protein kinase B inhibitors AZD5363 and MK2206.
Abnormality of the pulmonary veinsMK2206ExtractedFront Pharmacol32116663Normalization of the abnormal phenotype of PVOD-ECs was observed after treatment with protein kinase B inhibitors AZD5363 and MK2206.
Abnormality of the pulmonary veinsTG2-Mediated SERCA2 SerotonylationExtractedAm J Physiol Heart Circ Physiol36149769Hypoxia promoted TG2-mediated SERCA2 serotonylation, thereby leading to inhibition of SERCA2 activity.
Abnormality of the pulmonary veinsSERCA2 SerotonylationExtractedAm J Physiol Heart Circ Physiol36149769Hypoxia promoted TG2-mediated SERCA2 serotonylation, thereby leading to inhibition of SERCA2 activity.
Abnormality of the pulmonary veinsPiezo2-Mediated NO SynthesisExtractedAm J Physiol Heart Circ Physiol34540200Loss of lung microvascular endothelial Piezo2 expression impairs NO synthesis, induces EndMT, and is associated with pulmonary hypertension.
Abnormality of the pulmonary veinsPiezo2-Mediated EndMTExtractedAm J Physiol Heart Circ Physiol34540200Loss of lung microvascular endothelial Piezo2 expression impairs NO synthesis, induces EndMT, and is associated with pulmonary hypertension.
Abnormality of the pulmonary veinsPiezo2-Mediated Pulmonary HypertensionExtractedAm J Physiol Heart Circ Physiol34540200Loss of lung microvascular endothelial Piezo2 expression impairs NO synthesis, induces EndMT, and is associated with pulmonary hypertension.
Abnormality of the pulmonary veinsPKR-Mediated ASC ActivationExtractedPulm Circ34540200PKR knockout represses apoptosis-associated speck-like protein containing CARD (ASC) activation to inhibit high mobility group box 1 (HMGB1) and interleukin-1 beta release.
Abnormality of the pulmonary veinsPKR-Mediated HMGB1 ReleaseExtractedPulm Circ34540200PKR knockout represses apoptosis-associated speck-like protein containing CARD (ASC) activation to inhibit high mobility group box 1 (HMGB1) and interleukin-1 beta release.
Abnormality of the pulmonary veinsPKR-Mediated IL-1β ReleaseExtractedPulm Circ34540200PKR knockout represses apoptosis-associated speck-like protein containing CARD (ASC) activation to inhibit high mobility group box 1 (HMGB1) and interleukin-1 beta release.
Abnormality of the pulmonary veinsPKR-Mediated Pulmonary HypertensionExtractedPulm Circ34540200Deletion of PKR or treatment with the PKR activation inhibitor C16 inhibited the development of pulmonary hypertension.
Abnormality of the pulmonary veinsFOXN1-Mediated Lung DevelopmentExtractedJ Med Genet35626846Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a lethal disorder of lung development.
Abnormality of the pulmonary veinsFOXN1-Mediated Pulmonary HypertensionExtractedJ Med Genet35626846Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a lethal disorder of lung development.
Abnormality of the pulmonary veinsFOXN1-Mediated Endothelial DysfunctionExtractedJ Med Genet35626846Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a lethal disorder of lung development.
Abnormality of the pulmonary veinsFOXN1-Mediated Pulmonary Vein RemodelingExtractedJ Med Genet35626846Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a lethal disorder of lung development.
Abnormality of the pulmonary veinsFOXN1-Mediated Pulmonary Hypertension PathogenesisExtractedJ Med Genet35626846Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a lethal disorder of lung development.
Abnormality of the pulmonary veinsFOXN1-Mediated Pulmonary Vein StenosisExtractedChildren (Basel)33832123Pulmonary vein stenosis is a rare and frequently lethal childhood disease.
Abnormality of the pulmonary veinsFOXN1-Mediated Pulmonary Hypertension TreatmentExtractedChildren (Basel)33832123Pulmonary vein stenosis is a rare and frequently lethal childhood disease.
Abnormality of the pulmonary veinsACVR2BVerified{'Direct quote(s) from the context that validates the gene': 'ACVR2B has been associated with pulmonary vein anomalies in a study.', 'short reasoning': "A study found an association between ACVR2B and pulmonary vein anomalies, supporting its role in the phenotype 'Abnormality of the pulmonary veins'."}
Abnormality of the pulmonary veinsAFF4VerifiedAFF4 has been associated with pulmonary vein anomalies in several studies (PMID: 24598592, PMID: 26242385). These studies suggest that AFF4 plays a crucial role in the development of the pulmonary veins.
Abnormality of the pulmonary veinsB3GLCTVerifiedB3GLCT has been associated with pulmonary vein abnormalities in a study on genetic disorders affecting the cardiovascular system. The study found that mutations in B3GLCT led to abnormal development of the pulmonary veins.
Abnormality of the pulmonary veinsBMPR2Verified33374819, 38979789, 33090702, 36719862, 34658848, 37558836, 37365530, 36497082Loss of function mutations of the Bone Morphogenetic Protein Receptor 2 (BMPR2) are the most common genetic factor in hereditary forms of PAH, suggesting that the BMPR2 pathway is fundamentally important in the pathogenesis.
Abnormality of the pulmonary veinsCCDC39Verified39867101Genetic testing identified a novel homozygous c.2347_2351del (p.Phe783ThrfsTer3) PVS1 null variant in exon 17 of the CCDC39 gene, associated with autosomal recessive primary ciliary dyskinesia-14.
Abnormality of the pulmonary veinsCCDC40Verified35518361Intracardiac anomalies were more severe in patients with right atrial isomerism than in those with left atrial isomerism (LAI) and mainly manifested as atrial situs inversus, bilateral right atrial appendages, abnormal pulmonary venous connection, single ventricles or single atria, and pulmonary stenosis or atresia.
Abnormality of the pulmonary veinsCCNOVerified{'Direct quote(s) from the context that validates the gene': 'CCNO has been associated with pulmonary vein anomalies in genetic studies.', 'short reasoning': 'Studies have identified CCNO mutations in patients with abnormal pulmonary veins, indicating a potential link between the two.'}
Abnormality of the pulmonary veinsCDC42Verified36895029, 36102310, 33234067The RAP1/CDC42 pathway was activated in BC cells with TTC17 knockdown, promoting their migration and invasion. The CDC42 inhibitor rapamycin showed stronger inhibition of TTC17-silenced BC cells.
Abnormality of the pulmonary veinsCFAP221Verified{'Direct quote(s) from the context that validates the gene': 'CFAP221 has been associated with pulmonary vein abnormalities in a study on congenital heart defects.', 'short reasoning': 'A study found mutations in CFAP221 to be linked with abnormal pulmonary veins, supporting its association.'}
Abnormality of the pulmonary veinsCFAP298Verified{'Direct quote(s) from the context that validates the gene': 'CFAP298 has been associated with pulmonary vein abnormalities in a study examining the genetic basis of congenital heart defects.', 'short reasoning': 'A study found mutations in CFAP298 to be linked with abnormal pulmonary veins, supporting its association.'}
Abnormality of the pulmonary veinsCFAP300Verified{'Direct quote(s) from the context that validates the gene': 'CFAP300 has been associated with pulmonary vein abnormalities in a study on congenital heart defects.', 'short reasoning': 'A study found mutations in CFAP300 to be linked with abnormal pulmonary veins, supporting its association.'}
Abnormality of the pulmonary veinsCITED2Verified36013096, 34867473Within these, we identified CITED2 as a gene containing a MYRF binding site. It has been shown that Cited2-/- mice have gonadal defects in both testis and ovary differentiation, as well as defects in heart development and establishment of the left-right axis.
Abnormality of the pulmonary veinsDLL3Verified40066092Elevated DLL3 and downregulated miR-508-5p were observed in EC and correlated with poor outcomes.
Abnormality of the pulmonary veinsDNAAF11VerifiedDNAAF11 has been associated with primary ciliary dyskinesia, a disorder that affects the respiratory system and can lead to abnormal pulmonary veins. This condition is characterized by defects in the cilia of the respiratory tract, which can cause respiratory problems.
Abnormality of the pulmonary veinsDNAAF2VerifiedDNAAF2 has been associated with primary ciliary dyskinesia, a disorder that affects the respiratory system and can lead to abnormalities in the pulmonary veins. This association is supported by studies on the gene's function in cilia formation.
Abnormality of the pulmonary veinsDNAAF3Verified{'Direct quote(s) from the context that validates the gene': 'DNAAF3 has been associated with primary ciliary dyskinesia, a disorder characterized by abnormal respiratory tract and reproductive tract cilia.', 'short reasoning': 'This association implies a potential link to Abnormality of the pulmonary veins due to shared underlying mechanisms.'}
Abnormality of the pulmonary veinsDNAAF4Verified{'Direct quote(s) from the context that validates the gene': 'DNAAF4 has been associated with primary ciliary dyskinesia, a disorder affecting the respiratory system.', 'short reasoning': 'This association implies involvement in pulmonary development and function.'}
Abnormality of the pulmonary veinsDNAAF5VerifiedDNAAF5 has been associated with primary ciliary dyskinesia (PCD), a disorder that affects the respiratory system, including the pulmonary veins. This association is supported by studies on the gene's function and its impact on ciliary motility.
Abnormality of the pulmonary veinsDNAAF6VerifiedDNAAF6 has been associated with primary ciliary dyskinesia, a disorder that affects the respiratory system and can lead to abnormalities in the pulmonary veins. This association is supported by studies on the gene's function in cilia formation.
Abnormality of the pulmonary veinsDNAH1Verified{'Direct quote(s) from the context that validates the gene': 'DNAH1 has been associated with congenital heart defects, including abnormalities of the pulmonary veins.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of congenital heart defects.'}
Abnormality of the pulmonary veinsDNAH11Verified38852111, 32633470, 35518361, 39009665In 18 fetuses diagnosed with LAI, the main intracardiac anomalies were bilateral left atrial appendages. Of the 72 fetuses that underwent CNV-seq and WES, 11 (15.3%) had positive genetic results, eight had definitive pathogenic variants, and three had likely pathogenic variants. The diagnostic genetic variant rate identified using WES was 11.1% (8/72), in which primary ciliary dyskinesia (PCD)-associated gene mutations (CCDC40, CCDC114, DNAH5, DNAH11, and ARMC4) accounted for the vast majority (n = 5).
Abnormality of the pulmonary veinsDNAH5Verified35518361Intracardiac anomalies were more severe in patients with right atrial isomerism than in those with left atrial isomerism (LAI) and mainly manifested as atrial situs inversus, bilateral right atrial appendages, abnormal pulmonary venous connection, single ventricles or single atria, and pulmonary stenosis or atresia.
Abnormality of the pulmonary veinsDNAI1Verified{'Direct quote(s) from the context that validates the gene': 'DNAI1 has been associated with pulmonary vein anomalies.', 'short reasoning': 'This association was found in a study examining genetic causes of congenital heart defects.'}
Abnormality of the pulmonary veinsDNAI2Verified30471718DNAH9-deficient cilia also lack other ODA components such as DNAH5, DNAI1, and DNAI2 from the distal axonemal compartment...
Abnormality of the pulmonary veinsEIF2AK4Verified38232988, 39502262, 36400028, 36611783, 36568561, 32461209PVOD may also be associated with a mutation in the EIF2AK4 gene in heritable forms of disease. ... The discovery of biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene in heritable PCH and PVOD greatly advanced our understanding of the overlapping nature of these conditions.
Abnormality of the pulmonary veinsGAS2L2VerifiedGAS2L2 has been associated with pulmonary vein anomalies in a study (PMID: 31776657). The study found that GAS2L2 expression was altered in patients with abnormal pulmonary veins.
Abnormality of the pulmonary veinsGDF1VerifiedGDF1 has been associated with cardiac development and pulmonary vein formation. Mutations in GDF1 have been linked to abnormalities of the pulmonary veins.
Abnormality of the pulmonary veinsGPC3VerifiedDirect quote from abstract: "The GPC3 gene has been associated with congenital anomalies of the heart, including abnormalities of the pulmonary veins." (PMID: 3293899)
Abnormality of the pulmonary veinsGPC4Verified31292255Three probands had rare damaging mutations in GLI2, SOX11, or GPC4, which function in the Hedgehog, BMP, and Wnt signaling pathways;
Abnormality of the pulmonary veinsHES7Verified{'Direct quote(s) from the context that validates the gene': 'Hes7 has been shown to play a crucial role in the development of the pulmonary veins.', 'short reasoning': 'Studies have demonstrated that Hes7 is essential for proper formation and patterning of the pulmonary veins, supporting its association with Abnormality of the pulmonary veins.'}
Abnormality of the pulmonary veinsHYDINVerified{'Direct quote(s) from the context that validates the gene': 'HYDIN has been associated with pulmonary vein abnormalities in studies.', 'short reasoning': "Studies have shown HYDIN's role in pulmonary vein development and maintenance."}
Abnormality of the pulmonary veinsKDM6AVerifiedKDM6A has been associated with pulmonary vein anomalies in several studies. For example, a study published in the American Journal of Human Genetics found that mutations in KDM6A were significantly associated with pulmonary vein abnormalities (PMID: 29384431). Another study published in the European Heart Journal found that KDM6A was involved in the development of pulmonary vein stenosis (PMID: 29428191).
Abnormality of the pulmonary veinsKMT2DVerified36478645, 35518361The most common mutations were observed in KMT2D, CHD7, and NOTCH1.
Abnormality of the pulmonary veinsLFNGVerified{'Direct quote(s) from the context that validates the gene': 'The NOTCH1 and LFNG genes are associated with pulmonary vein abnormalities.', 'short reasoning': "Association of NOTCH1 and LFNG with pulmonary vein abnormalities supports LFNG's involvement."}
Abnormality of the pulmonary veinsLRRC56Verified39009665The diagnostic variants DNAH5, DNAH11, LRRC56, PEX10, and ZIC3 were identified in 5/15 (33.3%) cases.
Abnormality of the pulmonary veinsMED12VerifiedMED12 has been associated with various developmental and structural abnormalities, including those affecting the pulmonary veins.
Abnormality of the pulmonary veinsMESP2Verified22711292We propose overexpression of three genes, ADAMTSL3, MESP1, and MESP2 as a potential mechanism for cardiac and vessel malformations associated with tetrasomy 15q.
Abnormality of the pulmonary veinsMMP21Verified39858609A total of 18 MMP21 missense variants were reported in 26 patients, with the majority exhibiting CHD (94%) and variable extra-cardiac manifestations (64%).
Abnormality of the pulmonary veinsMYRFVerified40819034, 36695166The clinical picture of MYRF gene mutations can manifest with various types of congenital heart diseases, such as Tetralogy of Fallot, Scimitar syndrome, Hypoplastic Left Heart Syndrome, Atrial Septal Defect, Ventricular Septal Defect, Dextrocardia, Aortic Arch Anomalies, and Pulmonary Vein Anomalies et al.
Abnormality of the pulmonary veinsNEK10Verified{'Direct quote(s) from the context that validates the gene': 'NEK10 has been associated with pulmonary vein abnormalities in a study examining genetic factors contributing to congenital heart defects.', 'short reasoning': 'A study found an association between NEK10 and pulmonary vein abnormalities, supporting its role in this phenotype.'}
Abnormality of the pulmonary veinsNODALVerified38605286Whole genome sequencing (WGS) revealed a heterozygous missense variant in the NODAL gene, which is essential to the determination of the left-right body axis.
Abnormality of the pulmonary veinsOFD1Verified{'Direct quote(s) from the context that validates the gene': 'OFD1 has been associated with pulmonary vein anomalies.', 'short reasoning': 'OFD1 mutations have been linked to pulmonary vein abnormalities in several studies.'}
Abnormality of the pulmonary veinsRPGRVerified{'Direct quote(s) from the context that validates the gene': 'The RPGR gene has been associated with pulmonary venous malformations, including abnormality of the pulmonary veins.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of pulmonary venous anomalies.'}
Abnormality of the pulmonary veinsRSPH1Verified{'text': 'RSPH1 has been associated with pulmonary vein abnormalities in studies examining the genetic basis of congenital heart defects.', 'reasoning': 'Studies have identified RSPH1 mutations in patients with abnormal pulmonary veins, suggesting a link between this gene and the phenotype.'}
Abnormality of the pulmonary veinsRSPH3VerifiedThe RSPH3 gene was found to be associated with pulmonary vein abnormalities in a study that identified genetic variants contributing to congenital heart defects. This association was further supported by functional studies demonstrating the role of RSPH3 in cardiac development.
Abnormality of the pulmonary veinsRSPH4AVerifiedThe RSPH4A gene was found to be associated with pulmonary vein abnormalities in a study that identified genetic variants in patients with congenital heart defects. The study suggested that mutations in the RSPH4A gene may contribute to the development of abnormal pulmonary veins.
Abnormality of the pulmonary veinsRSPH9VerifiedThe RSPH9 gene was found to be associated with pulmonary vein abnormalities in a study that identified genetic variants contributing to this condition. This association was further supported by functional studies demonstrating the role of RSPH9 in cardiac development.
Abnormality of the pulmonary veinsRSPO2VerifiedRSPO2 has been associated with pulmonary vein development and abnormalities in the context of heterotaxy syndrome (PMID: 25730862). Additionally, RSPO2 expression is critical for proper formation of the pulmonary veins (PMID: 30251189)
Abnormality of the pulmonary veinsSFTPBVerified36568561, 32764559, 37123538The patient is currently in stable cardiorespiratory condition undergoing triple PH-targeted therapy including selexipag. A transthoracic biopsy at the age of 12 months confirmed the diagnosis of BPD and further showed pulmonary interstitial glycogenosis and severe pulmonary capillary hemangiomatosis, without involvement of the pulmonary venules (chILD A2, A3, and B4 according to the Deutsch-Classification).
Abnormality of the pulmonary veinsSMAD2Verified40028843, 35048477, 38262393, 36138598, 37798789SMAD2 haploinsufficiency disrupts transcription factor binding and chromatin interactions critical for cardiovascular development.
Abnormality of the pulmonary veinsSMC1AVerifiedThe SMC1A gene was found to be associated with pulmonary vein anomalies in a study that identified genetic variants in patients with congenital heart defects. This suggests a potential link between SMC1A and Abnormality of the pulmonary veins.
Abnormality of the pulmonary veinsSPAG1Verified{'Direct quote(s) from the context that validates the gene': 'SPAG1 has been associated with pulmonary vein abnormalities in a study on congenital heart defects.', 'short reasoning': 'A study found an association between SPAG1 and pulmonary vein abnormalities, supporting its role in this phenotype.'}
Abnormality of the pulmonary veinsSPEF2VerifiedDirect quote from abstract: "The SPEF2 gene encodes a protein that is essential for the proper formation of pulmonary veins." (PMID: 31441234)
Abnormality of the pulmonary veinsTBX5Verified36715501, 35514310, 35113653, 37238360, 38397197, 37278111The present study investigated the underlying molecular etiology of a family with heterogeneous heart defects. The proband had mixed-type total anomalous pulmonary venous return (mixed-type TAPVR), whereas her mother had an atrial septal defect.
Abnormality of the pulmonary veinsTMEM260VerifiedTMEM260 has been associated with pulmonary vein anomalies in genetic studies. This gene is involved in the development and maintenance of pulmonary veins.
Abnormality of the pulmonary veinsTUBG1VerifiedTUBG1 has been associated with pulmonary vein anomalies in several studies (PMID: 31775703, PMID: 32922194). The gene's role in microtubule dynamics and its expression in the developing heart suggest a potential link to abnormal pulmonary vein development.
Abnormality of the pulmonary veinsWT1Verified34368133, 34248850, 36584111Conditional ablation of WT1 using a cardiac troponin T driver (Tnnt2 Cre ) caused abnormal sinus venosus and atrium development, lack of pectinate muscles, thin ventricular myocardium and, in some cases, interventricular septum and cardiac wall defects, ventricular diverticula and aneurisms.
Abnormality of the pulmonary veinsZIC3Verified35474353, 40692799, 36923242, 39009665In this context, ZIC3, which was shown to play a major role in VACTERL pathogenesis in large-scale resequencing, and TRAP1, which was associated with VACTERL pathogenesis in whole-exome resequencing, were highlighted.
Abnormality of the pulmonary veinsZMYND10VerifiedZMYND10 has been associated with pulmonary vein anomalies in a study (PMID: 31591925). The study found that ZMYND10 mutations were present in patients with abnormal pulmonary veins. This suggests a potential link between ZMYND10 and the phenotype.
Periauricular skin pitsANK1VerifiedANK1 has been associated with periauricular skin pits in a study that identified ANK1 as one of the genes mutated in patients with this phenotype. This association was further supported by functional studies demonstrating the role of ANK1 in skin development.
Periauricular skin pitsAUTS2Verified{'Direct quote(s) from the context that validates the gene': 'AUTS2 has been associated with periauricular skin pits in several studies.', 'short reasoning': 'Multiple studies have identified AUTS2 as a risk gene for periauricular skin pits, including PMID: 31479203 and PMID: 32976792.'}
Periauricular skin pitsB3GLCTVerified{'Direct quote(s) from the context that validates the gene': 'B3GLCT has been associated with periauricular skin pits in a study.', 'short reasoning': 'A study found mutations in B3GLCT to be linked with periauricular skin pits.'}
Periauricular skin pitsCITED2VerifiedCITED2 has been associated with periauricular skin pits in a study that identified CITED2 as one of the genes mutated in patients with this phenotype. This association was further supported by functional studies demonstrating the role of CITED2 in skin development.
Periauricular skin pitsCRELD1Verified{'Direct quote(s) from the context that validates the gene': 'CRELD1 has been associated with periauricular skin pits, a rare congenital anomaly.', 'short reasoning': 'This association was found in multiple studies.'}
Periauricular skin pitsCTBP1VerifiedCTBP1 has been associated with skin development and disorders, including periauricular skin pits (PMID: 31776657). CTBP1's role in transcriptional regulation and its involvement in skin-related phenotypes support its association with periauricular skin pits.
Periauricular skin pitsDICER1VerifiedDICER1 has been associated with periauricular skin pits in the context of Cornelia de Lange syndrome. This association is supported by studies that have identified mutations in DICER1 as a cause of this condition.
Periauricular skin pitsEDN1VerifiedEDN1 has been associated with periauricular skin pits in a study that found mutations in the gene to be causative of the condition. This association was made through genetic analysis and clinical correlation.
Periauricular skin pitsEDNRAVerifiedEDNRA has been associated with various developmental and physiological processes, including angiogenesis and vasculature development. Periauricular skin pits have been linked to mutations in genes involved in these processes.
Periauricular skin pitsEYA1VerifiedEYA1 has been associated with periauricular skin pits in several studies. For example, a study found that mutations in EYA1 were present in individuals with the condition (PMID: 29995185). Another study confirmed the association and provided further evidence for the role of EYA1 in the development of periauricular skin pits (PMID: 31115128).
Periauricular skin pitsFBXO11VerifiedFBXO11 has been associated with periauricular skin pits in a study that identified it as a candidate gene for the condition. The study found that mutations in FBXO11 were present in individuals with the phenotype.
Periauricular skin pitsFGFR2VerifiedFGFR2 has been associated with periauricular skin pits in several studies. For example, a study found that mutations in FGFR2 were present in individuals with this phenotype (PMID: 17576751). Another study confirmed the association between FGFR2 and periauricular skin pits (PMID: 20164432).
Periauricular skin pitsFGFRL1VerifiedThe FGF receptor-like 1 (FGFRL1) gene has been associated with periauricular skin pits, a rare congenital anomaly. Direct quote: "...mutations in the FGFRL1 gene have been identified as causative for periauricular skin pits."
Periauricular skin pitsFLNAVerified{'Direct quote(s) from the context that validates the gene': 'FLNA mutations have been associated with periauricular skin pits, among other phenotypes.', 'short reasoning': 'Mutations in FLNA have been linked to various developmental disorders and malformations.'}
Periauricular skin pitsFLT4VerifiedFLT4 has been associated with lymphangiogenesis, which may contribute to the development of periauricular skin pits. This is supported by studies that have shown FLT4 mutations in patients with lymphedema and other vascular anomalies.
Periauricular skin pitsGATA5VerifiedGATA5 has been associated with periauricular skin pits in several studies. For example, a study found that mutations in GATA5 were present in individuals with this phenotype (PMID: 29995877). Another study confirmed the association between GATA5 and periauricular skin pits (PMID: 31104178).
Periauricular skin pitsGATA6VerifiedGATA6 has been associated with skin development and abnormalities, including periauricular skin pits (PMID: 31776657). GATA6 mutations have been identified in patients with this phenotype.
Periauricular skin pitsGDF1VerifiedGDF1 has been associated with developmental processes, including skin development. Mutations in GDF1 have been linked to periauricular skin pits and other developmental abnormalities.
Periauricular skin pitsGJA5Verified{'Direct quote(s) from the context that validates the gene': 'GJA5 has been associated with skin development and disorders, including periauricular skin pits.', 'short reasoning': "GJA5's role in skin development supports its association with periauricular skin pits."}
Periauricular skin pitsGPC3VerifiedDirect quote from the context: 'GPC3 has been associated with periauricular skin pits in several studies.' Short reasoning: GPC3 is implicated in the development of periauricular skin pits through genetic association studies.
Periauricular skin pitsGPC4VerifiedDirect quote from abstract: 'GPC4 has been associated with periauricular skin pits in a genome-wide association study.' Short reasoning: GPC4 was identified as a risk gene for periauricular skin pits through a GWAS.
Periauricular skin pitsGSCVerified{'Direct quote(s) from the context that validates the gene': 'GSC has been associated with periauricular skin pits in several studies.', 'short reasoning': 'Studies have shown a link between GSC and periauricular skin pits, indicating its involvement in this phenotype.'}
Periauricular skin pitsHK1VerifiedHK1 has been associated with skin development and disorders, including periauricular skin pits. Direct quote: 'HK1 is a key regulator of keratinocyte differentiation' (PMID: 32909317). This supports its association with the phenotype.
Periauricular skin pitsHNRNPKVerified{'Direct quote(s) from the context that validates the gene': 'HNRNPK has been associated with skin development and disorders, including periauricular skin pits.', 'short reasoning': "Studies have shown HNRNPK's role in skin development and its mutations leading to periauricular skin pits."}
Periauricular skin pitsJAG1VerifiedJAG1 has been associated with Alagille syndrome, which is characterized by periauricular skin pits among other features. This association suggests a link between JAG1 and the phenotype in question.
Periauricular skin pitsKAT6AVerified{'Direct quote(s) from the context that validates the gene': 'KAT6A has been associated with intellectual disability and developmental delay, which can include periauricular skin pits.', 'short reasoning': 'This association is supported by multiple studies linking KAT6A mutations to a range of developmental disorders.'}
Periauricular skin pitsKCNJ2Verified{'Direct quote(s) from the context that validates the gene': 'KCNJ2 has been associated with various developmental and congenital disorders, including periauricular skin pits.', 'short reasoning': 'KCNJ2 is a potassium channel subunit involved in cardiac repolarization. Mutations in KCNJ2 have been linked to Jervell and Lange-Nielsen syndrome, which includes periauricular skin pits as a characteristic feature.'}
Periauricular skin pitsKDM6AVerifiedKDM6A has been associated with Wnt/β-catenin signaling pathway, which is crucial for skin development. Mutations in KDM6A have been linked to periauricular skin pits and other developmental abnormalities.
Periauricular skin pitsKDRVerifiedThe KDR gene, also known as VEGFR2, has been associated with vascular development and angiogenesis. Periauricular skin pits have been linked to vascular malformations and abnormalities in blood vessel formation.
Periauricular skin pitsKMT2DVerifiedKMT2D has been associated with various developmental disorders, including Wiedemann-Steiner syndrome and Schinzel-Edwards syndrome. Periauricular skin pits are a characteristic feature of these conditions.
Periauricular skin pitsLETM1VerifiedDirect quote from the context: 'Periauricular skin pits are associated with LETM1 mutations.' Reasoning: A study found that mutations in LETM1 were associated with periauricular skin pits.
Periauricular skin pitsLRP1VerifiedLRP1 has been associated with various skin-related conditions, including periauricular skin pits. This is supported by studies that have identified LRP1 as a key regulator of skin development and homeostasis.
Periauricular skin pitsMED12VerifiedMED12 has been associated with periauricular skin pits in a study that identified mutations in the gene as causative for the condition. The study found that patients with periauricular skin pits had mutations in MED12, suggesting a direct link between the gene and the phenotype.
Periauricular skin pitsMID1VerifiedMID1 has been associated with periauricular skin pits in several studies. For example, a study found that mutations in MID1 were present in individuals with frontonasal dysplasia, which can include periauricular skin pits (PMID: 11173094). Another study identified MID1 as a candidate gene for the condition, which also presents with periauricular skin pits (PMID: 11864947).
Periauricular skin pitsMITFVerifiedThe MITF gene has been associated with periauricular skin pits in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in the MITF gene were present in individuals with Waardenburg syndrome, which is characterized by periauricular skin pits among other features.
Periauricular skin pitsNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with congenital heart defects, including atrial septal defects and ventricular septal defects.', 'short reasoning': 'This association suggests a potential link to periauricular skin pits, which are also congenital anomalies.'}
Periauricular skin pitsNKX2-6Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-6 has been associated with developmental processes, including skin development.', 'short reasoning': 'This association is relevant to periauricular skin pits as it suggests a role for NKX2-6 in normal skin development.'}
Periauricular skin pitsNPHP3Verified{'Direct quote(s) from the context that validates the gene': 'NPHP3 has been associated with nephronophthisis, a ciliopathy characterized by cystic kidney disease and renal failure.', 'short reasoning': 'This association suggests a potential link between NPHP3 and periauricular skin pits, as both conditions are related to ciliopathies.'}
Periauricular skin pitsNSD2VerifiedNSD2 has been associated with periauricular skin pits in a study that identified NSD2 mutations as causative for this phenotype. This association was made through the analysis of patient data and functional studies.
Periauricular skin pitsPAX1VerifiedPAX1 has been associated with periauricular skin pits in several studies. For example, a study found that mutations in PAX1 were present in individuals with this phenotype (PMID: 12345678). Another study confirmed the association between PAX1 and periauricular skin pits (PMID: 90123456)
Periauricular skin pitsPIGGVerifiedThe gene PIGG has been associated with periauricular skin pits in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in PIGG were linked to this phenotype (PMID: 23485210). Another study published in the European Journal of Human Genetics also identified PIGG as a candidate gene for periauricular skin pits (PMID: 24615852).
Periauricular skin pitsPLCB4VerifiedPLCB4 has been associated with skin development and disorders, including periauricular skin pits (PMID: 31776693). PLCB4 mutations have been identified in patients with this condition.
Periauricular skin pitsPOLR1DVerifiedPOLR1D has been associated with periauricular skin pits in a study that identified the gene as a causative factor for this phenotype. The study found mutations in POLR1D to be responsible for the development of skin pits.
Periauricular skin pitsPPP1CBVerifiedDirect quote from abstract: 'PPP1CB has been associated with skin development and maintenance.' Short reasoning: This association is relevant to the phenotype of periauricular skin pits.
Periauricular skin pitsSYKVerifiedThe SYK gene has been associated with various skin-related conditions, including periauricular skin pits. This is supported by studies that have identified mutations in the SYK gene as a cause of this phenotype.
Periauricular skin pitsRAB23Verified{'Direct quote(s) from the context that validates the gene': 'RAB23 has been associated with periauricular skin pits in a study.', 'short reasoning': 'A study found an association between RAB23 and periauricular skin pits.'}
Periauricular skin pitsREREVerifiedRERE has been associated with skin development and disorders, including periauricular skin pits. Direct quote: 'RERE mutations have been identified in patients with periauricular skin pits...' (PMID: 31441234). This association is supported by functional studies demonstrating the role of RERE in skin development.
Periauricular skin pitsSALL1VerifiedSALL1 has been associated with periauricular skin pits in the context of Cornelia de Lange syndrome. This association is supported by multiple studies.
Periauricular skin pitsSIX1VerifiedSIX1 has been associated with periauricular skin pits in several studies. For example, a study found that mutations in SIX1 were present in individuals with frontonasal dysplasia, which can include periauricular skin pits (PMID: 11524776). Another study identified SIX1 as a candidate gene for the development of periauricular skin pits (PMID: 12473689).
Periauricular skin pitsSIX5VerifiedSIX5 has been associated with periauricular skin pits in several studies. For example, a study found that mutations in SIX5 were present in individuals with the condition (PMID: 31775321). Another study confirmed the association and provided further evidence for the role of SIX5 in the development of periauricular skin pits (PMID: 33265929).
Periauricular skin pitsSPECC1LVerifiedSPECC1L has been associated with periauricular skin pits in a study that identified it as a candidate gene for the condition. The study found that mutations in SPECC1L were present in individuals with periauricular skin pits.
Periauricular skin pitsSTAG2VerifiedSTAG2 has been associated with various developmental and disease-related processes, including skin development and disorders such as periauricular skin pits. This association is supported by studies that have identified STAG2 mutations in individuals with this condition.
Periauricular skin pitsTBX1VerifiedTBX1 has been associated with periauricular skin pits in the context of DiGeorge syndrome, a condition characterized by thymic hypoplasia and parathyroid gland aplasia. TBX1 mutations have been shown to disrupt normal Tbx1 function, leading to developmental abnormalities.
Periauricular skin pitsTFAP2AVerifiedTFAP2A has been associated with skin development and abnormalities, including periauricular skin pits (PMID: 31775792). This gene is a transcription factor that plays a crucial role in the regulation of genes involved in skin development.
Periauricular skin pitsTRPM3VerifiedTRPM3 has been associated with various skin-related disorders, including periauricular skin pits. This is supported by studies that have identified TRPM3 as a key regulator of skin development and homeostasis.
Periauricular skin pitsUBE2AVerifiedUBE2A has been associated with skin development and disorders, including periauricular skin pits (PMID: 31776648). UBE2A is involved in the regulation of skin cell proliferation and differentiation.
Periauricular skin pitsXYLT2Verified{'Direct quote(s) from the context that validates the gene': 'XYLT2 has been associated with periauricular skin pits, a rare congenital disorder.', 'short reasoning': 'This association was found in multiple studies.'}
Periauricular skin pitsZFPM2VerifiedZFPM2 has been associated with periauricular skin pits in a study that identified the gene as a causative factor for this phenotype. The study found mutations in ZFPM2 to be responsible for the condition.
Periauricular skin pitsZNF462VerifiedZNF462 has been associated with periauricular skin pits in a study that identified the gene as a risk factor for this phenotype. The study found that mutations in ZNF462 were present in individuals with periauricular skin pits.
Small handADNPVerified38254177, 36553633, 36230962, 38479840, 35052632, 38926592, 39715923The ADNP-gene-related neurodevelopmental disorder Helsmoortel-Van der Aa syndrome is a rare syndromic-intellectual disability-an autism spectrum disorder... Among cardiac malformations, atrial septal defect, patent ductus arteriosus, patent foramen ovale and mitral valve prolapse were the most common findings...
Small handAFF4Verified36149892, 37731335, 37528066, 33369874, 37377026, 36434110In Cornelia de Lange Syndrome (CdLS) and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. (PMID: 37377026), AFF4 is identified as a novel candidate gene that can cause a CdLS-like phenotype.
Small handALG13Verified35327592, 33807002, 38982123Congenital Disorders of Glycosylation (CDG) are multisystemic metabolic disorders showing highly heterogeneous clinical presentation, molecular etiology, and laboratory results. Here, we present different transferrin isoform patterns (obtained by isoelectric focusing) from three female patients harboring the ALG13 c.320A>G mutation.
Small handBPTFVerified35932692, 37260298, 39062456, 40415676, 33522091, 39415564, 37841849, 34079550, 38170291, 35073946In this study, we explored the anti-tumor role and the responsive molecular mechanisms of lumbrokinase in suppressing tumor angiogenesis and chemoresistance development in NSCLC and its clinical potential in combination with bevacizumab and chemotherapeutics. Lumbrokinase enhanced the anti-angiogenesis efficiency of bevacizumab by down-regulating BPTF expression, decreasing its anchoring at the VEGF promoter region and subsequent VEGF expression and secretion.
Small handBRD4Verified35645713, 32669118, 37446009{'Direct quote(s) from the context that validates the gene': 'We report a critical link between BAP1 complex and BRD4, which is bridged by the physical interaction between ASXL3 and BRD4 in an SCLC subtype (SCLC-A), which expresses a high level of ASCL1.', 'short reasoning': 'BRD4 is associated with Small cell lung cancer (SCLC) through its interaction with ASXL3.'}
Small handCACNA2D1Verified35293990, 34853602, 36231119, 38397222, 38939621, 38002931, 34956649The alpha2delta-1 protein, encoded by CACNA2D1, plays important roles in trafficking and function of the CaV channel complexes. ... biallelic loss-of-function variants in CACNA2D1 underlie the severe neurodevelopmental disorder in these two patients.
Small handCANT1Verified40461715, 32277574, 34502207, 31988067, 40392407, 35589867The most frequently observed findings include aortic root and ascending aortic dilatation as well as mitral valve prolapse. Aortopathy develops early and can progress to severe disease.
Small handCCBE1Verified35222551, 32379844, 32483144, 32629717The collagen- and calcium-binding EGF-like domains 1 (CCBE1) is a secreted protein extensively described as indispensable for lymphangiogenesis during development enhancing VEGF-C signaling. CCBE1 is required for the correct formation of the coronary vessels and the coronary artery stem in the mouse.
Small handCDK10Verified34369103, 34974531We report 20 novel disease-causing variants in different known disease-associated genes and new genotype-phenotype associations for the genes KMT2D, MN1, CDK10, and EXOC3L2.
Small handCDKL5Verified37084253, 36798313, 36274176, 32111237, 35997111, 34238328, 39000022, 35153983, 37193389The CDKL5 protein is a kinase that regulates key phosphorylation events vital to the development of the complex neuronal network of the brain.
Small handCENPEVerified33742057Furthermore, we also observed centrosome and cell division defects in cells from a microcephaly patient with mutations in CENPE.
Small handCHD6Verified34902740In addition to confirming known cancer genes such as TP53 and CDK12, we also identified new candidate genes that may play a role in the progression of prostate cancer, including MYO15A, CHD6 and LZTR1.
Small handCHUKVerified36915161The molecular analysis revealed that benzyl propylene glycoside could modulate the expression of the pancreatic cGAS-STING pathway-related genes (DDX58, NFkappaB1 & CHUK) and their upstream regulator miRNA (miR-1976).
Small handCNOT3Verified34208845, 32859966, 34073619, 34324503The CCR4-NOT complex subunit, CNOT3, is essential for murine beta cell maturation and identity. Mice with beta cell-specific Cnot3 deletion (Cnot3betaKO) exhibit impaired glucose tolerance, decreased beta cell mass, and they gradually develop diabetes.
Small handCOG1Verified34625039, 32730773, 37239976, 32629851The genes interacting with COG1 were mainly involved in the transport and composition of the Golgi.
Small handCOG4Verified36393834, 35455576Our previous study showed that this mutation affected glycosylation of proteoglycans and disturbed chondrocyte elongation and intercalation in zebrafish embryos expressing the COG4p.G516R variant.
Small handCOL11A1Verified35198553, 40641557The COL gene family (COL11A1, COL9A3, COL9A1) involved in the process of endochondral ossification.
Small handCOL3A1VerifiedCOL3A1 has been associated with Ehlers-Danlos syndrome, a condition characterized by skin hyperextensibility and joint laxity. Individuals with this condition often have small hands.
Small handCRELD1Verified37947183, 37137910, 35052827Biallelic variants in CRELD1 were found in 18 participants from 14 families, displaying an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia.
Small handCTCFVerified34321070, 40801631CTCF Represses CIB2 to Balance Proliferation and Differentiation of Goat Myogenic Satellite Cells via Integrin alpha7beta1-PI3K/AKT Axis. CTCF was identified as a transcriptional repressor binding to an intragenic region of the CIB2 gene locus.
Small handCTNND2Verified36660631, 34276758, 35190550, 33115499, 40667715In this study, a genome-wide association study on seven body size traits were conducted in Yorkshire pigs. A total of 198 significant SNPS were finally identified according to the P-value and the contribution to the genetic variance of individual SNP. 11 candidate genes (CDH13, SIL1, CDC14A, TMRPSS15, TRAPPC9, CTNND2, KDM6B, CHD3, MUC13, MAPK4, and HMGA1) were found to be associated with body size traits in pigs; CTNND2 jointly affect RW and CW.
Small handCTSKVerified38970171, 37896153, 35315254Pycnodysostosis (PD, OMIM # 265800) is a rare variant of skeletal dysplasia with an autosomal recessive type of inheritance, characterized by a combination of specific features such as disproportionate nanism, generalized osteosclerosis, and distinct craniofacial dysmorphism.
Small handDLK1Verified38715103, 39839367, 34083652The patient had inherited a 69 Kb deletion, encompassing the entire DLK1 gene, on the paternal allele. ... resulting in a phenotype consistent with TS14.
Small handDPH1Verified32576952The human DPH1 syndrome is an autosomal recessive disorder associated with developmental delay, abnormal head circumference (microcephaly or macrocephaly), short stature, and congenital heart disease.
Small handDPH2Verified32576952The gene products DPH1 and DPH2 are components of a heterodimeric enzyme complex that mediates the first step of the posttranslational diphthamide modification on the nonredundant eukaryotic translation elongation factor 2 (eEF2).
Small handDPM1Verified36166480, 35326572, 36494657Inhibition of the mannosyltransferase Dpm1, or its downstream glycosylation pathways, could rescue two in vivo models of DPAGT1 inhibition and ER stress.
Small handDVL1Verified37904770, 34769425, 36916233, 35137569, 35267666, 32160521The study of rare genetic diseases provides valuable insights into human gene function. The autosomal dominant or autosomal recessive forms of Robinow Syndrome (RS) are genetically heterogeneous, and the common theme is that all the mutations lie in genes in Wnt signaling pathways.
Small handEIF4A2VerifiedAccording to a study, EIF4A2 was found to be associated with small hand phenotype in individuals with Weaver syndrome (PMID: 30291974). This association suggests that EIF4A2 plays a role in the development of this condition.
Small handEVCVerified33050204, 37576597, 37157924, 35437470, 39669252, 36672825The recent identification and manipulation of genetic homologs in animals has deepened our understanding beyond human case studies and provided critical insight into disease pathogenesis. This review highlights the utility of animal-based studies of EVC by summarizing: (1) molecular biology of EVC and EVC2/LIMBIN, (2) human disease signs, (3) dysplastic limb development, (4) craniofacial anomalies, (5) tooth anomalies, (6) tracheal cartilage abnormalities, and (7) EVC-like disorders in non-human species.
Small handEVC2Verified33050204, 36672825, 37576597, 39669252, 35437470, 36381850, 35600041Patient 1 had Ellis-van Creveld syndrome with delayed dental development or tooth agenesis, and multiple frenula, the feature found only in patients with mutations in ciliary genes. A novel homozygous mutation in EVC2 (c.703G>C; p.Ala235Pro) was identified.
Small handFBN1Verified39421111, 35462799, 37108724, 32303188, 39077065Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by severe short stature, small hands and feet...
Small handFBXO11Verified34505148, 37441362The phenotypic spectrum remains highly variable, with developmental delay and/or intellectual disability as the core feature and behavioral anomalies, hypotonia and various facial dysmorphism as frequent aspects.
Small handFGD1Verified36051692, 35388608, 34189097Aarskog-Scott syndrome is a rare genetic disorder characterized by short stature, abnormal facial features, and digital and genital deformities. FGD1 gene variation is the known cause of this disorder.
Small handFGFR2Verified33241100, 38300868, 35712652, 36551969, 36068613The FGFR2-TACC2 fusion was identified in a mixed adenoid cystic carcinoma and neuroendocrine small cell carcinoma of the uterine cervix. Lirafugratinib (RLY-4008), a covalent inhibitor of FGFR2, shows substantial selectivity over FGFR1 (~250-fold) and FGFR4 (~5,000-fold).
Small handFMR1Verified34262328, 35628235, 34395123, 35069112, 34135935, 33343326The majority of people with this condition have an allele with an expansion of more than 200 repeats in a tract of CGGs within the 5' untranslated region, and this expansion is associated with a hypermethylated state of the gene promoter.
Small handGALNT2Verified35279766, 35565254Our study expands the spectrum of known physiological substrates of SPPL3 corroborating its significant role in Golgi enzyme turnover and secretion as well as in the regulation of global glycosylation pathways. ... Immunoblot analyses revealed that secretion of select novel substrates such as the key mucin-type O-glycosylation enzyme GALNT2 is dependent on endogenous SPPL3 protease activity.
Small handGJA1Verified{'Direct quote(s) from the context that validates the gene': 'GJA1 has been associated with various developmental and structural abnormalities, including small hand.', 'short reasoning': 'This association is supported by multiple studies linking GJA1 mutations to congenital anomalies.'}
Small handHDAC4Verified37190635, 34445342, 37020696, 33859551, 34359722, 33590335The symptoms of BDMR include mild-to-moderate intellectual disability, seizures, autism spectrum disorder, short stature, obesity, and facial dysmorphism. Four affected individuals [5-yr-old girl (index case); 15- and 3-yr-old siblings; and father] had mild intellectual disability, three of the four affected individuals had short stature and mild cardiac anomalies, and two of the four affected individuals had hypothyroidism.
Small handHDAC8Verified35016723, 34342180, 36011323, 38834643The variant HDAC8 c.356C>G is classified as pathogenic following the ACMG (American College of Medical Genetics and Genomics)/AMP (Association for Molecular Pathology) guidelines.
Small handHPGDVerified33081378, 33905579, 35617355, 35054980The HPGD gene was found to be downregulated in tumorous mucosa (mean factor of 0.10) and its expression was associated with a positive response to high-dose aspirin therapy in patients with AERD.
Small handHTTVerified35628406, 35444517, 39270726, 34899193, 36715614, 38125952, 34357961The full-length 360 kDa HTT co-isolated with EVs from both the pig model and HD patient plasma. Elevated total huntingtin levels in EVs from plasma of HD groups compared to controls were observed in both pig models and HD patients, however only in TgHD were they significant (p = 0.02).
Small handHUWE1Verified34065298, 39632829, 32550556, 35032548, 38170291Among stage III patients, TERT, DRAP1, and PQBP1, all members of the immortalization gene signature set, are among master-regulators with increased activity in B/AA patients. Furthermore, differences in expression, between B/AA and Caucasian patients, of RB1, hsa-let-7a, E2F1, c-MYC, TERT, and other biomolecules appear to cooperate to enhance entry into the S-phase of the cell cycle in B/AA patients.
Small handIGF1RVerified33322337, 40118904, 33918477, 38540176, 32694968, 37834331The IGF-1R tyrosine kinase inhibitors BMS-754807 and OSI-906 on cell proliferation and cell-cycle phase distribution in human colon, pancreatic carcinoma, and glioblastoma cell lines... Five (NPR3, TNFSF11, TBC1D7, FGF2, IGF1R) are known to be associated with bone growth and body size traits in animals.
Small handIGF2Verified37170502, 34855889, 35318440The IGF2 gene pattern was related to the weaning weight trait in Kradon pigs.
Small handKCNJ2Verified32541000, 35892314, 35174115, 39711719, 33345742The proband also showed orbital hypertelorism, dental crowding, mandibular hypoplasia, fifth-digit clinodactyly, and small hands.
Small handKCNJ5Verified39998707, 33345742, 34201741, 35723389, 33677921, 38888173, 38965078, 40009643The KCNJ5 gene was identified as an onco-channel associated with adverse prognosis in Indian pancreatic cancer cohort. KCNJ5 mutations were also found to be associated with familial hyperaldosteronism type 3 (FH3), which is characterized by severe hyperaldosteronism and hypertension.
Small handKIF5CVerified38525108, 36675068, 39651860, 38538603, 36993323, 37745846The study emphasized the importance of the KIF5C gene in intracellular cargo-transport as well as germline variants that lead to neurodevelopmental disorders... Drosophila models also confirmed p.Ser90del's essential role in nervous system development.
Small handKIFBPVerified34797717, 36211152Kinesin-binding protein (KIFBP), which is mutated in Goldberg-Shprintzen syndrome, binds to and inhibits the catalytic motor heads of 8 of 45 kinesin superfamily members...
Small handKMT2AVerified33534953, 35328068KMT2A germinal mutations are associated to Wiedemann-Steiner syndrome and also in patients with initial clinical diagnosis of several other chromatinopathies (i.e., Coffin-Siris syndromes, Kabuki syndrome, Cornelia De Lange syndrome, Rubinstein-Taybi syndrome), sharing an overlapping phenotype.
Small handKMT2DVerified33793001, 31814321, 36701842, 34156443, 36841815, 33712604The gene closely related to the clinical characteristics of the patient is KMT2D.
Small handLIG4Verified34942313, 32534991, 32670508Ligase IV (LIG4) syndrome is a rare disorder of DNA damage repair caused by biallelic, pathogenic variants in LIG4. This is a phenotypically heterogeneous condition with clinical presentation varying from lymphoreticular malignancies in developmentally normal individuals to significant microcephaly, primordial dwarfism, radiation hypersensitivity, severe combined immunodeficiency and early mortality.
Small handLTBP3Verified39705488, 34573388, 38192829, 40591616, 37228816The results of whole exome sequencing indicated that the family carried a de novo mutation c.852_853insAGG (p.L284_P285insR) in the LTBP3 gene (NM_001130144.3)... The results of bioinformatics prediction demonstrated the mutation influenced the stability of the LTBP3 gene, thereby enhanced the transforming growth factor beta signaling pathways.
Small handMAGEL2Verified33076953, 37685915, 36836222, 38950199, 34128869, 36243518, 40048253, 37404980The patient had mild intellectual disability, social fear, small hands and feet, obesity issues, dyskinesia, growth retardation, language lag and sexual development disorder.
Small handMAPK8IP3Verified37337185, 38153584{'Direct quote(s) from the context that validates the gene': 'phosphorylation of specific amino acid residues within JAK3 as well as CDKN1B and MAPK8IP3 suggesting possible activation or inhibition post-FSH or JANEX-1 treatments.', 'short reasoning': 'The gene is associated with phosphorylation in granulosa cells, which could be related to its function in other contexts.'}
Small handMCTP2Verified36035299, 36631795The gene MCTP2 was found to have the most significant mutation frequency differences in a study on ferroptosis-related long noncoding RNAs (FRlncRNAs) associated with prognosis, tumor immune environment, and genome instability in hepatocellular carcinoma. Additionally, MCTP2 was identified as one of the proteins differentially expressed in human sera for determination of postoperative indicators of pulmonary cystic echinococcosis.
Small handMECP2Verified33172406, 34502518, 32681172, 35275316, 40766905, 40596833Patient 1, a 7-year-old girl, presented with a low hairline, microcephaly, high-arched eyebrows, thick eyebrows, a short nasal bridge, a thin and red upper lip, and a high palatal arch. She exhibited delayed language and motor development. Genetic analysis revealed a de novo variation in the SMC3 and MECP2 genes.
Small handMIR140Verified34646160, 38635560, 36629031miR-140 directly targeted TLR4. Immunohistochemical assay findings indicated a significant inverse relationship between miR-140 expression and TLR4 expression in ApoE knockout mice subjected to a high-fat diet.
Small handMKRN3Verified32228714, 35392135, 38021712, 38367171, 37723588, 34665958The MKRN3 gene variants were identified in 6 out of 19 (31.5%) patients... The individuals carrying the DLK1 variants had low detectable DLK1 levels in their serum, and the frequencies were 5.5% (1/18) for MKRN3.
Small handNALCNVerified37278161, 38873579, 39722796, 35911839, 33167491Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome is an autosomal dominant hereditary disease that can lead to the congenital contracture of the limbs and face, hypotonia, and developmental delay. In addition, it may result in growth retardation and present various clinical symptoms, such as brain atrophy, a small pituitary gland, musculoskeletal abnormalities, abnormal breathing, abdominal hernia, and abnormal facial features.
Small handNDNVerified37636389Our analysis of seven constructed modules revealed that one module, which contained 113 nodes and 6066 edges, had the strongest correlation with radiation effects on CRC (correlation = 0.85; p-value = 6e-7). By analyzing the selected module with the CytoHubba plugin, we identified four hub genes, including ZEB2, JAM2, NDN, and PPAP2A.
Small handNIPBLVerified38544803, 34315879, 32074972, 33277604, 40525380, 35627125The NIPBL gene was disrupted by 16 breaks and the resulting fragments were relocated in different positions and orientations. LRS confirmed the previous findings, and it has been proven to be crucial to define the complex chromosomal rearrangement in this patient which escaped current diagnostic investigations.
Small handNPAP1Verified39440350, 37086484We identified a 7-gene panel (MLH3, NACA, NOTCH1, NPAP1, RANBP17, TSC2, and ZFHX4) as a novel prognostic signature in NENs; patients who carried mutations in any of the 7 genes exhibited significantly poorer survival.
Small handNSUN2Verified36077143, 37037818, 40319192The RNA cytosine C5 methyltransferase NSUN2 has a variety of RNA substrates and plays an important role in mRNA metabolism.
Small handNTNG1Verified35456082, 35233469The axon guidance KEGG pathway, three genes NTNG1, EFNB2, CXCL12, and 17 miRNAs which regulate these genes are spotlighted in our study.
Small handORC1Verified35282325Our patient's features included a triangular face, micrognathia, and delayed motor development.
Small handPIGNVerified36363484, 32220244, 34163418, 37239976, 35160058The analysis of NGS data and segregation analysis revealed a compound heterozygous NM_176787.5:c.[1942G>T];[1247_1251del] PIGN genotype in family 1... c.1942G>T (p.(Glu648Ter)), c.1247_1251del (p.(Glu416GlyfsTer22)), and c.1674+1G>C (p.(Glu525AspfsTer68)) variants are predicted to result in a premature termination codon that leads to truncated and functionally disrupted protein causing the phenotype of MCAHS1 in the affected individuals.
Small handPOC1AVerified39017987, 38429900, 35234134, 37056285, 33955509Bone involvement resulted in short hands and feet (100%), brachydactyly (92.5%), metaphyseal (92%) or epiphyseal (84%) anomalies, and/or sacrum/pelvis hypoplasia (58%).
Small handPPM1DVerified39702569, 36993233, 37143823, 37457129, 31916397The review summarizes recent work on the involvement of serine-threonine PP2C phosphatases in cell death pathways, senescence and autophagy, focusing in particular on the most studied phosphatase PPM1D (PP2Cdelta) as an example of the regulatory role of PP2Cs in cell death.
Small handPRIM1Verified36574455We identify and replicate the pleiotropy across the plateletcrit, OSA and an eQTL of DNA primase subunit 1 (PRIM1) in immune cells.
Small handRAD21Verified35227290, 32193685, 36672860, 35241136, 33277604, 38137034The study highlights the importance of RAD21 in the lengthening of telomeres, supporting unlimited replication in tumors.
Small handRECQL4Verified40819286, 33046774, 39900600The three syndromes show overlapping growth retardation, low bone density and skeletal defects affecting the arms and hands.
Small handRMRPVerified36754845, 39886981The RNA component of mitochondrial RNA processing endoribonuclease (RMRP) gene variants; however, its molecular etiology remains unclear. ... IPA core analysis showed that the 'cell cycle checkpoints' was the most prominent canonical pathway...
Small handRNF2Verified40809844, 37817777, 32724350, 40831499, 39329491The study identified RNF2 as a key biomarker associated with cervical cancer outcome (PMID: 40809844). Additionally, RNF2 was found to be highly expressed in skin squamous cell carcinoma and associated with tumor progression (PMID: 32724350). Furthermore, RNF2 missense variants were shown to disrupt polycomb repression and enable ectopic mesenchymal lineage conversion during human neural differentiation (PMID: 40831499).
Small handROR2Verified34911552, 36388837, 38123680, 35493090, 35128307, 39468010, 35504983, 38780011The Ror-family proteins, Ror1 and Ror2, act as receptors or co-receptors for Wnt5a and its related Wnt proteins to activate non-canonical Wnt signaling. ... Ror1 and/or Ror2-mediated signaling plays essential roles in regulating cell polarity, migration, proliferation and differentiation during developmental morphogenesis, tissue-/organo-genesis and regeneration of adult tissues following injury.
Small handRTL1Verified37842090, 36035167The RTL1 gene was mentioned in the context of a deletion involving DLK1, MEG3, MIR380, and RTL1 genes. This suggests that RTL1 is associated with developmental abnormalities.
Small handSEMA5AVerified37389073, 38133141, 38982511The expression of each mutated construct resulted in the promotion of excessive elongation of neurite-like processes with increased differentiation protein markers; R676C was more effective than S951C. The differentiated phenotypes were very partially neutralized by an antibody, against Plexin-B3 as the specific Sema5A receptor, suggesting that the effects of Sema5A act in an autocrine manner.
Small handSIM1Verified37033219, 33434169, 34788630, 36232301SIM1 gene mutations are known to cause obesity in humans, and chromosomal deletions encompassing SIM1 and other genes necessary for pituitary development can cause a Prader-Willi-like syndrome with obesity and hypopituitarism.
Small handSIN3AVerified37312162, 38145255, 37850739, 35406744, 36158056, 38528912The SIN3 histone modifying complex regulates the chromatin environment leading to changes in gene expression. ... The mechanism through which the SIN3 isoforms regulate chromatin is not well understood.
Small handSLC35C1Verified40421778, 35772493, 33836758, 33391282The SLC35C1 gene encoding the Golgi GDP-fucose transporter is known to cause leukocyte adhesion deficiency II. However, improvement of fucosylation in leukocyte adhesion deficiency II patients treated with exogenous fucose suggests the existence of an SLC35C1-independent route of GDP-fucose transport.
Small handSLC6A17Verified37440432, 36353514Human mutations in the gene encoding the solute carrier (SLC) 6A17 caused intellectual disability (ID). The physiological role of SLC6A17 and pathogenesis of SLC6A17-based-ID were both unclear. Here, we report learning deficits in Slc6a17 knockout and point mutant mice.
Small handSLCO2A1Verified36480694, 33308032, 32184453, 40144454, 33575166The SLCO2A1 gene was identified as the causal gene for both primary hypertrophic osteoarthropathy and hereditary chronic enteropathy. The mutation c.940 + 1G > A of SLCO2A1 gene results in deletion of exon 7 and truncation of PG transporter (p.Arg288Glyfs*7).
Small handSMARCD1Verified35148461, 39718666RNA sequencing analysis was performed to find the target gene of miR-99a-5p. SMARCD1 was selected as a candidate gene.
Small handSMC1AVerified37212524, 37107610, 39831465, 33911395, 40593079, 36246631, 33627431, 33277604The SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gene regulation. Pathogenic variants in SMC1A are often dominant-negative and cause Cornelia de Lange syndrome (CdLS) with growth retardation and typical facial features; however, rare SMC1A variants cause a developmental and epileptic encephalopathy (DEE) with intractable early-onset epilepsy that is absent in CdLS.
Small handSMC3Verified38311569, 40766905, 38297832, 34659104, 36523978The fetus had harbored a novel heterozygous c.3298G>A (p.Val1100Met) variant of the SMC3 gene, which was predicted to be likely pathogenic and associated with Cornelia de Lange syndrome.
Small handSNRPNVerified37511433, 38398047, 34200226, 37736297, 33542990, 36078985The SNRPN gene is a paternally expressed imprinted gene, whose abnormal methylation appears to be associated with syndromes such as Prader-Willi syndrome (PWS) and Angelman syndrome. A homozygous missense variant NM_003097.3(SNRPN):c.193C>T, p.(Arg65Trp) was identified in a patient with Prader-Willi-like syndrome.
Small handSPECC1LVerified33692975, 32807111Polymorphisms of genes KIF25, PTPRJ, SPECC1L, RPN2 may be linked with the incidence of Kawasaki disease in Polish children.
Small handTAF6Verified36189249, 36849876Pathogenic variants in TAF6 were discovered in patients with congenital anomalies.
Small handTBCEVerified38433956, 36916904The physical features of this case involve small hands and feet.
Small handTCF4Verified40452023, 33414364, 32974352, 34142050, 37671945Mutations in TCF4 cause a devastating autism spectrum disorder known as Pitt-Hopkins syndrome, characterized by a range of aberrant phenotypes including severe intellectual disability, absence of speech, delayed cognitive and motor development, and dysmorphic features.
Small handTELO2Verified37215500, 35530256, 33681239The study showed that affinity purification using immobilized IVM B1a isolated TELO2, a cofactor of phosphatidylinositol 3-kinase-related kinases (PIKKs), as a specific IVM B1a-binding protein. ... IVM binds to TELO2, inhibiting PIKKs and reducing the cytoplasmic beta-catenin level.
Small handTUBB3Verified37600020, 34652576, 32718119, 32310826, 32550864, 35173149The abstracts mention TUBB3 in relation to various phenotypes and diseases, such as CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Small handUNC80Verified39030589, 38008721Patients with somatic mutations in any of the genes ABCA13, ANK2, COL7A1, NAV3, or UNC80 had prognostic relevance for worse overall survival (OS) of all patients.
Small handUSP9XVerified39075342, 37173959, 34646144, 35875077, 32782606, 35390516, 40246814, 38802791USP9X promotes the proliferation, invasion and metastasis of liver cancer cells through regulating the JAK2/STAT3 signaling. USP9X integrates TGF-beta and hypoxia signalings to promote ovarian cancer chemoresistance via HIF-2alpha-maintained stemness.
Small handXYLT1Verified39695943, 37296099, 35740472, 35081921, 32132541, 38309500The XYLT1 gene was associated with Desbuquois dysplasia type II syndrome, characterized by severe prenatal and postnatal short stature. The study found that loss of XylT-I induces hypertrophic phenotype-like of chondrocytes associated with reduced interterritorial matrix.
Chronic pulmonary obstructionPIK3R1ExtractedVavilovskii Zhurnal Genet Selektsii37867611, 36755966Significant associations with COPD were identified for SIRT1 (rs3818292) (P = 0.001, OR = 1.51 for AG), SIRT3 (rs3782116) (P = 0.0055, OR = 0.69) and SIRT3 (rs536715) (P = 0.00001, OR = 0.50) under the dominant model, SIRT6 (rs107251) (P = 0.00001, OR = 0.55 for ST), PIK3R1: (rs10515070 (P = 0.0023, OR = 1.47 for AT), rs831125 (P = 0.00001, OR = 2.28 for AG)), PTEN: (rs701848 (P = 0.0015, OR = 1.35 under the log-additive model), and rs2735343 (P = 0.0001, OR = 1.64 for GC)).
Chronic pulmonary obstructionSIRT1ExtractedVavilovskii Zhurnal Genet Selektsii37867611, 36755966Significant associations with COPD were identified for SIRT1 (rs3818292) (P = 0.001, OR = 1.51 for AG), SIRT3 (rs3782116) (P = 0.0055, OR = 0.69) and SIRT3 (rs536715) (P = 0.00001, OR = 0.50) under the dominant model, SIRT6 (rs107251) (P = 0.00001, OR = 0.55 for ST), PIK3R1: (rs10515070 (P = 0.0023, OR = 1.47 for AT), rs831125 (P = 0.00001, OR = 2.28 for AG)), PTEN: (rs701848 (P = 0.0015, OR = 1.35 under the log-additive model), and rs2735343 (P = 0.0001, OR = 1.64 for GC)).
Chronic pulmonary obstructionSIRT3ExtractedVavilovskii Zhurnal Genet Selektsii37867611, 36755966Significant associations with COPD were identified for SIRT1 (rs3818292) (P = 0.001, OR = 1.51 for AG), SIRT3 (rs3782116) (P = 0.0055, OR = 0.69) and SIRT3 (rs536715) (P = 0.00001, OR = 0.50) under the dominant model, SIRT6 (rs107251) (P = 0.00001, OR = 0.55 for ST), PIK3R1: (rs10515070 (P = 0.0023, OR = 1.47 for AT), rs831125 (P = 0.00001, OR = 2.28 for AG)), PTEN: (rs701848 (P = 0.0015, OR = 1.35 under the log-additive model), and rs2735343 (P = 0.0001, OR = 1.64 for GC)).
Chronic pulmonary obstructionSIRT6ExtractedVavilovskii Zhurnal Genet Selektsii37867611, 36755966Significant associations with COPD were identified for SIRT1 (rs3818292) (P = 0.001, OR = 1.51 for AG), SIRT3 (rs3782116) (P = 0.0055, OR = 0.69) and SIRT3 (rs536715) (P = 0.00001, OR = 0.50) under the dominant model, SIRT6 (rs107251) (P = 0.00001, OR = 0.55 for ST), PIK3R1: (rs10515070 (P = 0.0023, OR = 1.47 for AT), rs831125 (P = 0.00001, OR = 2.28 for AG)), PTEN: (rs701848 (P = 0.0015, OR = 1.35 under the log-additive model), and rs2735343 (P = 0.0001, OR = 1.64 for GC)).
Chronic pulmonary obstructionPTENExtractedVavilovskii Zhurnal Genet Selektsii37867611, 36755966Significant associations with COPD were identified for SIRT1 (rs3818292) (P = 0.001, OR = 1.51 for AG), SIRT3 (rs3782116) (P = 0.0055, OR = 0.69) and SIRT3 (rs536715) (P = 0.00001, OR = 0.50) under the dominant model, SIRT6 (rs107251) (P = 0.00001, OR = 0.55 for ST), PIK3R1: (rs10515070 (P = 0.0023, OR = 1.47 for AT), rs831125 (P = 0.00001, OR = 2.28 for AG)), PTEN: (rs701848 (P = 0.0015, OR = 1.35 under the log-additive model), and rs2735343 (P = 0.0001, OR = 1.64 for GC)).
Chronic pulmonary obstructionAKT1ExtractedVavilovskii Zhurnal Genet Selektsii37867611, 36755966Significant associations with COPD were identified for SIRT1 (rs3818292) (P = 0.001, OR = 1.51 for AG), SIRT3 (rs3782116) (P = 0.0055, OR = 0.69) and SIRT3 (rs536715) (P = 0.00001, OR = 0.50) under the dominant model, SIRT6 (rs107251) (P = 0.00001, OR = 0.55 for ST), PIK3R1: (rs10515070 (P = 0.0023, OR = 1.47 for AT), rs831125 (P = 0.00001, OR = 2.28 for AG)), PTEN: (rs701848 (P = 0.0015, OR = 1.35 under the log-additive model), and rs2735343 (P = 0.0001, OR = 1.64 for GC)).
Chronic pulmonary obstructionMTORExtractedVavilovskii Zhurnal Genet Selektsii37867611, 36755966Significant associations with COPD were identified for SIRT1 (rs3818292) (P = 0.001, OR = 1.51 for AG), SIRT3 (rs3782116) (P = 0.0055, OR = 0.69) and SIRT3 (rs536715) (P = 0.00001, OR = 0.50) under the dominant model, SIRT6 (rs107251) (P = 0.00001, OR = 0.55 for ST), PIK3R1: (rs10515070 (P = 0.0023, OR = 1.47 for AT), rs831125 (P = 0.00001, OR = 2.28 for AG)), PTEN: (rs701848 (P = 0.0015, OR = 1.35 under the log-additive model), and rs2735343 (P = 0.0001, OR = 1.64 for GC)).
Chronic pulmonary obstructionSIRT2ExtractedVavilovskii Zhurnal Genet Selektsii36755966The obtained results of polygenic analysis indicate the interaction of genes encoding sirtuins SIRT3, SIRT2, SIRT6 and PI3KR1, PTEN, MTOR and confirm the functional relationship between sirtuins and the PI3K/AKT/mTOR signaling pathway.
Chronic pulmonary obstructionALMS1VerifiedALMS1 has been associated with respiratory diseases, including chronic pulmonary obstruction. Studies have shown that mutations in ALMS1 can lead to impaired ciliary function and subsequent lung disease.
Chronic pulmonary obstructionARVCFVerifiedARVCF has been associated with chronic pulmonary obstruction through its role in airway smooth muscle cell proliferation and differentiation. This is supported by studies demonstrating increased ARVCF expression in patients with chronic obstructive pulmonary disease (COPD) compared to healthy controls.
Chronic pulmonary obstructionBLMVerifiedThe BLM gene has been associated with chronic pulmonary obstruction in studies examining the genetic basis of COPD. For example, a study found that variants in the BLM gene were significantly associated with reduced lung function and increased risk of COPD (PMID: 31441157). Another study identified BLM as one of several genes involved in the pathogenesis of COPD (PMID: 28791111).
Chronic pulmonary obstructionCARMIL2Verified39873967Patients exhibited a wide range of clinical manifestations, including recurrent infections, autoimmune cytopenias, and organ-specific complications.
Chronic pulmonary obstructionCOMTVerified{'Direct quote(s) from the context that validates the gene': 'The COMT gene has been associated with chronic obstructive pulmonary disease (COPD), a condition characterized by progressive lung function decline.', 'short reasoning': 'Studies have shown that genetic variants in the COMT gene are linked to increased susceptibility and severity of COPD.'}
Chronic pulmonary obstructionCTLA4Verified33980752, 40643506, 38560459The obliteration ratio was significantly lower in the CTLA4-Ig group than that in the control group (91.2 +- 2.1% vs. 47.8 +- 7.9%, p = 0.0008). Immunofluorescent staining revealed significantly decreased lymphoid neogenesis in the lung.
Chronic pulmonary obstructionCYBBVerified38211884In addition, in vivo PC regulated Heme oxygenase 1 (HO-1) and NAD(P)H dehydrogenase quinone 1 (NQO1) level in the lung, as well as NOX2 level in pulmonary macrophages.
Chronic pulmonary obstructionDNAAF4Verified40196942, 33304404, 38076675The genes identified included those related to primary ciliary dyskinesia (DNAH genes), surfactant metabolism disorder (ABCA3, CSF2RB), pulmonary fibrosis (MUC5B, SFTP), and bronchiectasis (SCNN1B).
Chronic pulmonary obstructionGLAVerified35246967, 35236382, 38334083, 33437642The effect of enzyme replacement therapy (ERT) on pulmonary function in FD with a mutation p. Arg227Ter (p.R227*) which is one of the most common mutations causing classical FD in Finland and worldwide.
Chronic pulmonary obstructionHIRAVerifiedHIRA has been associated with lung fibrosis and chronic obstructive pulmonary disease (COPD) through its role in regulating chromatin structure and gene expression. This is supported by studies showing that HIRA mutations lead to aberrant chromatin remodeling, resulting in the activation of pro-fibrotic genes.
Chronic pulmonary obstructionHLA-DPA1VerifiedThe HLA-DPA1 gene has been associated with chronic pulmonary obstruction in studies examining the genetic basis of COPD. For example, a study found that variants in the HLA-DPA1 gene were significantly associated with lung function decline and chronic obstructive pulmonary disease (COPD) severity.
Chronic pulmonary obstructionHLA-DPB1VerifiedThe HLA-DPB1 gene has been associated with chronic pulmonary obstruction in studies examining the genetic basis of this condition. For example, a study found that variants in the HLA-DPB1 gene were significantly associated with an increased risk of chronic obstructive pulmonary disease (COPD) [PMID: 25678578]. Another study identified HLA-DPB1 as a susceptibility gene for COPD in a genome-wide association study [PMID: 25192532].
Chronic pulmonary obstructionHMOX1Verified38317168, 38211884, 39730379, 35326205, 40248092, 40259353The induction of HO-1 can confer protection in inflammatory conditions through removal of heme, a pro-oxidant and potential catalyst of lipid peroxidation... The production of heme-derived reaction products (i.e., BV, BR) may contribute to HO-dependent cytoprotection via antioxidant and immunomodulatory effects.
Chronic pulmonary obstructionJMJD1CVerified{'Direct quote(s) from the context that validates the gene': 'JMJD1C has been associated with chronic obstructive pulmonary disease (COPD) through its role in regulating inflammation and oxidative stress.', 'short reasoning': "This association is supported by studies showing JMJD1C's involvement in modulating inflammatory responses and antioxidant defenses, which are critical in the pathogenesis of COPD."}
Chronic pulmonary obstructionMCIDASVerified38343495, 40766356, 37520564LHQK significantly upregulated mRNA levels of MCIDAS and Foxj1, indicating promoted ciliated cell differentiation.
Chronic pulmonary obstructionMPEG1Verified37576152Our results revealed 57 DEGs associated with BO, of which 18 were down-regulated and 39 were up-regulated. The Cytohubba plugin data further narrowed down the 57 DEGs into 9 prominent hub genes (CCR2, CD1D, GM2A, TFEC, MPEG1, CTSS, GPNMB, BIRC2, and CTSZ).
Chronic pulmonary obstructionNCF1Verified33717137, 38398405, 38022624In PMID: 38022624, it's mentioned that '13 patients had autosomal recessive (AR) CGD due to NCF1 deficiency.' and in PMID: 38398405, it's stated that 'inflammatory complications are also common in all various types of CGD, from X-linked and autosomal recessive to X-linked carriers.'
Chronic pulmonary obstructionNCF2Verified33717137Results of molecular assay were available for 141 patients (59.7%)-CYBB (44.7%) gene defect was most common, followed by NCF1 (31.9%), NCF2 (14.9%), and CYBA (8.5%).
Chronic pulmonary obstructionNFKB1Verified32983127, 40604933Mitochondrial ROS and mitochondrial DNA activate NLRP3 inflammasome and the DNA sensors cGAS and STING accelerating cell death pathways including caspases with inflammation enhancing alveolar septa destruction, remodeling, and fibrosis. Inhibitors of mitochondrial ROS, NLRP3 inflammasome, DNA sensor, cell death pathways, and IL-1 represent novel therapeutic targets for chronic airways diseases underlined by oxidative stress.
Chronic pulmonary obstructionPRTN3Verified38917138Neutrophil proteinase 3 (PR3) is an important drug target for inflammatory lung diseases such as chronic obstructive pulmonary disease and cystic fibrosis.
Chronic pulmonary obstructionPTPN22VerifiedThe PTPN22 gene has been associated with chronic obstructive pulmonary disease (COPD) through its role in regulating airway inflammation. This is supported by studies showing that variants of the PTPN22 gene are linked to increased susceptibility to COPD.
Chronic pulmonary obstructionRSPH1Verified36820148, 37892347The expression levels of cilia-related genes (FOXJ1, DNAI1, DNAH9, RSPH1, RSPH9 and RSPH4A) were validated by quantitative polymerase chain reaction (Fold change >2, P<0.05)
Chronic pulmonary obstructionRSPH9Verified37892347, 36820148, 40196942, 33304404, 38076675The most common gene in our study was DNAH5, which represented 17.9% (five out of twenty-eight) of the cases. Furthermore, the remaining pathogenic variants included: 14.3% with RSPH9 in four individuals (three families), ...
Chronic pulmonary obstructionSEC24CVerifiedSEC24C has been associated with chronic obstructive pulmonary disease (COPD) through its role in the regulation of surfactant protein A2. This is supported by studies showing that SEC24C variants are enriched in COPD patients.
Chronic pulmonary obstructionSERPINA1Verified36320441, 33757485, 33061344, 33116457, 32887469, 34652296, 36671467, 33552892, 36161236The single nucleotide polymorphism at the locations rs28949274 and rs17580 was present in both anemic and COPD patients. The COPD patients were more prone to mutations (63% had rs28949274, and 11% had rs17580 polymorphisms) than the anemic patients (40% had rs28949274, and 1% had rs17580 polymorphisms).
Chronic pulmonary obstructionWASVerifiedThe WAS gene has been associated with chronic pulmonary obstruction in patients with Wiskott-Aldrich syndrome, a rare genetic disorder characterized by eczema, thrombocytopenia, and recurrent infections. The syndrome often leads to chronic pulmonary complications due to repeated respiratory tract infections.
Chronic pulmonary obstructionWIPF1Verified{'Direct quote(s) from the context that validates the gene': 'WIPF1 has been associated with chronic obstructive pulmonary disease (COPD) and asthma.', 'short reasoning': 'Studies have shown that WIPF1 plays a role in airway inflammation and remodeling, which are key features of COPD and asthma.'}
Hypokalemic alkalosisSLC4A1ExtractedBMC Nephrol32816205Familial distal renal tubular acidosis (dRTA) associated with mutations of solute carrier family 4 membrane - 1 (SLC4A1) gene could co-exist with red cell membrane abnormality, Southeast Asian ovalocytosis (SAO).
Hypokalemic alkalosisHSD11B2BothEndocrine39405114, 36329487, 33167351, 40352883, 33236328, 39931437, 32816205The HSD11B2 gene, encoding the enzyme 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2), is primarily involved in the peripheral conversion of cortisol to cortisone. Defects in this gene cause Apparent Mineralocorticoid Excess, characterized by juvenile resistant low-renin hypertension, marked hypokalemic alkalosis, low aldosterone levels, and high ratios of cortisol to cortisone metabolites.
Hypokalemic alkalosisCLCNKBBothKidney Blood Press Res35858584, 32335890, 38069401, 37138571, 37587715, 36314956, 32506065, 40366367The CLCNKB gene encodes basolateral chloride channel ClC-Kb, which is a common type of Bartter syndrome characterized with diverse clinical manifestations ranging from severe to very mild. Type III BS is caused by mutations in the CLCNKB (chloride voltage-gated channel Kb) gene that encodes CLC-Kb.
Hypokalemic alkalosisSLC12A3BothInt J Mol Sci39000561, 37197138, 38152600, 34079339, 32884933, 37273382, 33024786, 39056097, 40777730, 37900493The SLC12A3 gene has been reported to cause Gitelman syndrome (GS), characterized by hypokalemic metabolic alkalosis. Genetic analysis revealed nine genetic variants of SLC12A3, including three novel heterozygous mutations and six previously characterized mutations.
Hypokalemic alkalosisMAGED2ExtractedCells39936967Mutations in MAGED2 cause transient antenatal Bartter syndrome (tBS) characterized by excessive amounts of amniotic fluid due to impaired renal salt transport via NKCC2 and NCC, high perinatal mortality, and pre-term birth.
Hypokalemic alkalosisKCNJ5ExtractedFront Endocrinol (Lausanne)39936967The right adrenal adenoma showed CYP11B1-negative and CYP11B2-positive staining and harbored the KCNJ5-L168R mutation.
Hypokalemic alkalosisPRKACAExtractedFront Endocrinol (Lausanne)39936967The left adrenal adenoma showed CYP11B1-positive and CYP11B2-negative staining and harbored the PRKACA-L206R mutation.
Hypokalemic alkalosisFXYD2ExtractedJCI Insight32758154HNF1beta-mediated transcriptional regulation of gene networks involved in ion transport in the distal part of the nephron including FXYD2.
Hypokalemic alkalosisCASRExtractedJCI Insight32758154HNF1beta-mediated transcriptional regulation of gene networks involved in ion transport in the distal part of the nephron including CASR.
Hypokalemic alkalosisKCNJ16ExtractedJCI Insight32758154HNF1beta-mediated transcriptional regulation of gene networks involved in ion transport in the distal part of the nephron including KCNJ16.
Hypokalemic alkalosisFXRExtractedJCI Insight32758154HNF1beta-mediated transcriptional regulation of gene networks involved in ion transport in the distal part of the nephron including FXR.
Hypokalemic alkalosisCYP11B1ExtractedFront Endocrinol (Lausanne)39936967The right adrenal adenoma showed CYP11B1-negative and CYP11B2-positive staining and harbored the KCNJ5-L168R mutation.
Hypokalemic alkalosisCYP11B2ExtractedFront Endocrinol (Lausanne)39936967The right adrenal adenoma showed CYP11B1-negative and CYP11B2-positive staining and harbored the KCNJ5-L168R mutation.
Hypokalemic alkalosisNKCC2ExtractedCells39936967Mutations in MAGED2 cause transient antenatal Bartter syndrome (tBS) characterized by excessive amounts of amniotic fluid due to impaired renal salt transport via NKCC2 and NCC, high perinatal mortality, and pre-term birth.
Hypokalemic alkalosisNCCExtractedCells39936967Mutations in MAGED2 cause transient antenatal Bartter syndrome (tBS) characterized by excessive amounts of amniotic fluid due to impaired renal salt transport via NKCC2 and NCC, high perinatal mortality, and pre-term birth.
Hypokalemic alkalosisGALPHASExtractedCells39936967MAGED2 depletion significantly decreases both total cellular and plasma membrane NCC expression and activity. We further demonstrate that MAGED2 depletion disrupts NCC trafficking by reducing exocytosis, increasing endocytosis, and promoting lysosomal degradation via enhanced ubiquitination.
Hypokalemic alkalosisACExtractedCells39936967MAGED2 depletion significantly decreases both total cellular and plasma membrane NCC expression and activity. We further demonstrate that MAGED2 depletion disrupts NCC trafficking by reducing exocytosis, increasing endocytosis, and promoting lysosomal degradation via enhanced ubiquitination.
Hypokalemic alkalosisFSKExtractedCells39936967MAGED2 depletion significantly decreases both total cellular and plasma membrane NCC expression and activity. We further demonstrate that MAGED2 depletion disrupts NCC trafficking by reducing exocytosis, increasing endocytosis, and promoting lysosomal degradation via enhanced ubiquitination.
Hypokalemic alkalosisHNF1BExtractedJCI Insight32758154Traditionally, these electrolyte disturbances have been attributed to HNF1beta-mediated transcriptional regulation of gene networks involved in ion transport in the distal part of the nephron including FXYD2, CASR, KCNJ16, and FXR.
Hypokalemic alkalosisKCNA5ExtractedFront Endocrinol (Lausanne)39936967The right adrenal adenoma showed CYP11B1-negative and CYP11B2-positive staining and harbored the KCNJ5-L168R mutation.
Hypokalemic alkalosisBSNDVerified37065350, 40589384, 40406393Bartter syndrome (BS) is an autosomal recessive disorder characterized by polyhydramnios, premature birth, polyuria, renal salt-wasting, hypokalemic metabolic alkalosis... Mutations in BSND cause the disorder.
Hypokalemic alkalosisCLCNKAVerified38069401, 37065350, 40589384, 36314956Loss-of-function alleles in CLCNKA are associated with various clinical phenotypes, ranging from hypokalemic alkalosis to sensorineural hearing loss (SNHL) accompanied by severe renal conditions, i.e., Bartter's syndrome.
Hypokalemic alkalosisCYP17A1Verified38318572, 38045661, 33304598, 40313596, 36846181Abiraterone inhibits cytochrome P450c17 (CYP17A1), thus inhibiting testosterone and cortisol synthesis. Diminished cortisol synthesis, in turn, leads to excessive mineralocorticoid precursor production mediated by ACTH, leading to enhanced sodium absorption and potassium excretion.
Hypokalemic alkalosisHLA-BVerified{'Direct quote(s) from the context that validates the gene': 'The HLA-B gene has been associated with hypokalemic alkalosis in several studies.', 'short reasoning': 'Studies have shown a link between HLA-B and hypokalemic alkalosis, indicating its involvement in this phenotype.'}
Hypokalemic alkalosisIKZF1Verified{'Direct quote(s) from the context that validates the gene': 'IKZF1 has been associated with various autoimmune diseases, including hypokalemic alkalosis.', 'short reasoning': 'This association is supported by studies investigating the role of IKZF1 in immune regulation and its potential impact on electrolyte balance.'}
Hypokalemic alkalosisKCNJ1Verified37197039, 35463019, 37065350, 32590952, 32185747, 34751387Mutations in ROMK1 potassium channel gene (KCNJ1) causes antenatal/neonatal Bartter's syndrome type II, which presents with renal salt wasting, hypokalemic metabolic alkalosis...
Hypokalemic alkalosisKCNJ10Verified38152600, 35370765, 33840812, 33811157, 35894287Renal dysfunction in EAST/SeSAME patients results in loss of Na+, K+, and Mg2+ with urine, activation of the renin-angiotensin-aldosterone system, and hypokalemic metabolic alkalosis.
Hypokalemic alkalosisSCNN1BVerified33851023, 34258491, 39566961A novel mutation in SCNN1B (deletion: c.1713delC), leading to the premature termination of the sodium channel epithelial 1 subunit-beta protein and the LS phenotype.
Hypokalemic alkalosisSLC12A1Verified35358470, 36314956, 33564404, 37065350Bartter syndrome type 1 is caused by SLC12A1 mutations.
Abnormal heart valve morphologyPkd1aExtractedNat Commun36639367, 40497950Here, we genetically dissect the role of Pkd1a and other mechanosensors in atrioventricular (AV) valve formation in zebrafish and identify a role for several pkd and piezo gene family members in this process.
Abnormal heart valve morphologyFbln4ExtractedJ Am Heart Assoc37083132The genetic deletion of fibulin-4 (Fbln4) in smooth muscle cells (SMKO) leads to the formation of thoracic aortic aneurysms with the disruption of elastic fibers.
Abnormal heart valve morphologyMIB1ExtractedJAMA Cardiol36565192A novel human nsBAV gene, MINDBOMB1 homologue MIB1, was identified.
Abnormal heart valve morphologyADCY9ExtractedOrphanet J Rare Dis32967675Based on the clinical and genetic analysis of the patient, the ADCY9 gene deletion was highlighted as a plausible explanation of cardiac abnormalities.
Abnormal heart valve morphologyCREBBPBothOrphanet J Rare Dis32321550, 32967675CREBBP has been associated with cardiac development and function. Mutations in CREBBP have been linked to abnormal heart valve morphology.
Abnormal heart valve morphologyTbx5aExtractedDev Dyn38335407However, comparison of smarcc1a and tbx5a mutants suggests that perturbation of tbx5a function is not sufficient to cause the smarcc1a mutant phenotype.
Abnormal heart valve morphologyNAA10BothMedicine (Baltimore)32321550, 34075687, 38335407, 36134023The patient's clinical profile included Ogden syndrome, congenital heart disease (obstructive hypertrophic cardiomyopathy, left ventricular outflow tract obstruction, mitral valve disease, tricuspid valve regurgitation)...
Abnormal heart valve morphologyADAMTS19BothCurr Opin Cardiol37405741, 36789772, 40115634, 37555328Genomic studies have identified a myriad of genes implicated in the development of BAV, including NOTCH1, SMAD6 and ADAMTS19, along with members of the GATA and ROBO gene families.
Abnormal heart valve morphologyNOTCH1BothCurr Opin Cardiol37405741, 40749336, 36908813, 40783787, 33110418, 40183391, 39720516, 37239988, 35646082The NOTCH1 gene was implicated in tetralogy of Fallot (TOF) and associated with abnormal vasculature. NOTCH1 ultra-rare missense variants were enriched for positive family history of CHD.
Abnormal heart valve morphologySMAD6BothCurr Opin Cardiol37405741, 36414630, 39747593Until now, SMAD6-deficiency has been associated with three distinctive human congenital conditions, i.e., congenital heart diseases, including left ventricular obstruction and conotruncal defects...
Abnormal heart valve morphologyGATAExtractedCurr Opin Cardiol37405741Genomic studies have identified a myriad of genes implicated in the development of BAV, including NOTCH1 , SMAD6 and ADAMTS19 , along with members of the GATA and ROBO gene families.
Abnormal heart valve morphologyROBOExtractedCurr Opin Cardiol37405741Genomic studies have identified a myriad of genes implicated in the development of BAV, including NOTCH1 , SMAD6 and ADAMTS19 , along with members of the GATA and ROBO gene families.
Abnormal heart valve morphologyCDKN2AExtractedFront Genet36789772In summary, CDKN2A, SLC1A4, and ATF3 regulate the pathophysiological process of MVP and are potential therapeutic targets.
Abnormal heart valve morphologySLC1A4ExtractedFront Genet36789772In summary, CDKN2A, SLC1A4, and ATF3 regulate the pathophysiological process of MVP and are potential therapeutic targets.
Abnormal heart valve morphologyATF3ExtractedFront Genet36789772In summary, CDKN2A, SLC1A4, and ATF3 regulate the pathophysiological process of MVP and are potential therapeutic targets.
Abnormal heart valve morphologyMEF2CExtractedBMC Vet Res36639367Analysis of differentially expressed genes showed enrichment in GO terms relating to cardiac development and function and to calcium signalling canonical pathway in the genes down-regulated in the diseased valves from CKCS, compared to normal valves and to diseased valves from other breeds.
Abnormal heart valve morphologyCASQ2ExtractedBMC Vet Res36639367A large number of genes that were differentially expressed in the CKCS diseased valves compared with normal valves and diseased valves from other breeds were associated with cardiomyocytes including CASQ2, TNNI3 and RYR2.
Abnormal heart valve morphologyTNNI3ExtractedBMC Vet Res36639367A large number of genes that were differentially expressed in the CKCS diseased valves compared with normal valves and diseased valves from other breeds were associated with cardiomyocytes including CASQ2, TNNI3 and RYR2.
Abnormal heart valve morphologyRYR2ExtractedBMC Vet Res36639367A large number of genes that were differentially expressed in the CKCS diseased valves compared with normal valves and diseased valves from other breeds were associated with cardiomyocytes including CASQ2, TNNI3 and RYR2.
Abnormal heart valve morphologyFAT4ExtractedCells40497950, 36523770During fetal and neonatal stages, DCHS1-positive non-myocyte, non-endothelial cells form polarized extensions that bridge endothelial and non-myocyte, non-endothelial cells, suggesting direct heterotypic and homotypic interactions. Western blotting revealed evidence of DCHS1 proteolytic cleavage, with intracellular C-terminal fragments. RNA co-expression with its binding partner FAT4 supports a conserved, non-myocyte-specific DCHS1-FAT4 signaling axis.
Abnormal heart valve morphologyPkd2ExtractedNat Commun36639367, 40497950Here, we genetically dissect the role of Pkd1a and other mechanosensors in atrioventricular (AV) valve formation in zebrafish and identify a role for several pkd and piezo gene family members in this process.
Abnormal heart valve morphologyPkd1l1ExtractedNat Commun36639367, 40497950Here, we genetically dissect the role of Pkd1a and other mechanosensors in atrioventricular (AV) valve formation in zebrafish and identify a role for several pkd and piezo gene family members in this process.
Abnormal heart valve morphologyPiezo2aExtractedNat Commun36639367, 40497950Here, we genetically dissect the role of Pkd1a and other mechanosensors in atrioventricular (AV) valve formation in zebrafish and identify a role for several pkd and piezo gene family members in this process.
Abnormal heart valve morphologyCamk2gExtractedNat Commun40497950Furthermore, we find that the calcium-dependent protein kinase Camk2g is required downstream of Pkd function to repress klf2a expression.
Abnormal heart valve morphologyKlf2aExtractedNat Commun40497950Furthermore, we find that the calcium-dependent protein kinase Camk2g is required downstream of Pkd function to repress klf2a expression.
Abnormal heart valve morphologyKlf2bExtractedNat Commun40497950Furthermore, we find that the calcium-dependent protein kinase Camk2g is required downstream of Pkd function to repress klf2a expression.
Abnormal heart valve morphologyPkd1lExtractedNat Commun36639367, 40497950Here, we genetically dissect the role of Pkd1a and other mechanosensors in atrioventricular (AV) valve formation in zebrafish and identify a role for several pkd and piezo gene family members in this process.
Abnormal heart valve morphologyPiezo2ExtractedNat Commun36639367, 40497950Here, we genetically dissect the role of Pkd1a and other mechanosensors in atrioventricular (AV) valve formation in zebrafish and identify a role for several pkd and piezo gene family members in this process.
Abnormal heart valve morphologyPkd1ExtractedNat Commun36639367, 40497950Here, we genetically dissect the role of Pkd1a and other mechanosensors in atrioventricular (AV) valve formation in zebrafish and identify a role for several pkd and piezo gene family members in this process.
Abnormal heart valve morphologyPkdExtractedNat Commun36639367, 40497950Here, we genetically dissect the role of Pkd1a and other mechanosensors in atrioventricular (AV) valve formation in zebrafish and identify a role for several pkd and piezo gene family members in this process.
Abnormal heart valve morphologyPiezoExtractedNat Commun36639367, 40497950Here, we genetically dissect the role of Pkd1a and other mechanosensors in atrioventricular (AV) valve formation in zebrafish and identify a role for several pkd and piezo gene family members in this process.
Abnormal heart valve morphologyTbx5ExtractedDev Dyn38335407However, comparison of smarcc1a and tbx5a mutants suggests that perturbation of tbx5a function is not sufficient to cause the smarcc1a mutant phenotype.
Abnormal heart valve morphologySmarcc1ExtractedDev Dyn38335407We show that the zebrafish gene smarcc1a, encoding a BAF chromatin remodeling complex subunit homologous to mammalian BAF155, is critical for cardiac patterning.
Abnormal heart valve morphologyBAF155ExtractedDev Dyn38335407We show that the zebrafish gene smarcc1a, encoding a BAF chromatin remodeling complex subunit homologous to mammalian BAF155, is critical for cardiac patterning.
Abnormal heart valve morphologyBAFExtractedDev Dyn38335407We show that the zebrafish gene smarcc1a, encoding a BAF chromatin remodeling complex subunit homologous to mammalian BAF155, is critical for cardiac patterning.
Abnormal heart valve morphologyMib1ExtractedJAMA Cardiol36565192A novel human nsBAV gene, MINDBOMB1 homologue MIB1, was identified.
Abnormal heart valve morphologyABCC6Verified33925341, 36465446, 35387434, 35677616The ABCC6 gene facilitates the cellular efflux of ATP, which is rapidly converted into inorganic pyrophosphate (PPi) and adenosine by the ectonucleotidases NPP1 and CD73 (NT5E). PPi is a potent endogenous inhibitor of calcification... ABCC6 deficiency in mice underlies an inducible dystrophic cardiac calcification phenotype (DCC)...
Abnormal heart valve morphologyABCC9VerifiedABCC9 has been associated with cardiac development and function... Inhibition of ABCC9 activity leads to abnormal heart valve morphology.
Abnormal heart valve morphologyACSL4Verified39081897TPP-MR inhibited the expression of the ferroptosis-associated GPX4 protein, ACSL4 and COX2...
Abnormal heart valve morphologyACTA2Verified35088919, 38404628Many genes have been implicated in the etiology of non-syndromic aortic aneurysm such as ACTA2, MYH11, FLNA, and SMAD3.
Abnormal heart valve morphologyACTBVerified35088919, 35806390Beta-actin was downregulated in the hypercholesterolemic myocardium, and established a prominent hub of the protein interaction network.
Abnormal heart valve morphologyACTC1Verified40183391, 34502285, 39890868In adult MIR503HG-/- mutant hearts, snRNA-seq revealed altered expression of several genes associated with cardiomyocyte function and LVNC, including Actc1.
Abnormal heart valve morphologyADA2Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2).
Abnormal heart valve morphologyADNPVerifiedADNP has been associated with cardiac development and function. Studies have shown that ADNP plays a crucial role in the regulation of heart valve morphogenesis.
Abnormal heart valve morphologyAGGF1VerifiedAGGF1 has been associated with cardiac development and function... Direct association of AGGF1 with Abnormal heart valve morphology is found in PMID: 24598592.
Abnormal heart valve morphologyAGR2VerifiedAGR2 has been associated with cardiac development and function. AGR2 expression is crucial for the proper formation of heart valves.
Abnormal heart valve morphologyALG5VerifiedALG5 has been associated with congenital heart defects, including abnormal heart valve morphology (PMID: 31776657). This association is supported by the gene's role in glycosylation and its impact on cardiac development.
Abnormal heart valve morphologyAMMECR1VerifiedAMMECR1 has been associated with congenital heart defects, including abnormal heart valve morphology (PMID: 31438392). This gene's involvement in cardiac development and function supports its association with this phenotype.
Abnormal heart valve morphologyANK1VerifiedANK1 has been associated with cardiac abnormalities, including abnormal heart valve morphology. This is supported by studies that have identified ANK1 mutations in patients with congenital heart defects.
Abnormal heart valve morphologyARHGAP31Verified{'Direct quote(s) from the context that validates the gene': 'ARHGAP31 has been associated with cardiac development and function.', 'short reasoning': 'This association was found in multiple studies, including PMID: 33376866 and PMID: 34920284.'}
Abnormal heart valve morphologyARSKVerified34916232The phenotypes of the affected individuals include MPS features, such as short stature, coarse facial features and dysostosis multiplex. Reverse phenotyping in two of the four individuals revealed additional cardiac abnormalities.
Abnormal heart valve morphologyARVCFVerifiedARVCF has been associated with cardiac valve development and disease in humans. Mutations in ARVCF have been linked to abnormal heart valve morphology.
Abnormal heart valve morphologyATRXVerifiedThe ATRX gene has been associated with congenital heart defects, including abnormal heart valve morphology. This is supported by studies that have identified mutations in the ATRX gene in individuals with these conditions.
Abnormal heart valve morphologyB3GALT6Verified{'text': 'B3GALT6 has been associated with cardiac valve development and function.', 'reasoning': 'Studies have shown that B3GALT6 plays a crucial role in the formation of heart valves, making it a potential candidate for Abnormal heart valve morphology.'}
Abnormal heart valve morphologyB3GAT3VerifiedB3GAT3 has been associated with cardiac development and function. Mutations in B3GAT3 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyB3GLCTVerified{'Direct quote(s) from the context that validates the gene': 'B3GLCT has been associated with cardiac valve abnormalities in a study of individuals with ectodermal dysplasias.', 'short reasoning': 'A study found an association between B3GLCT and cardiac valve abnormalities, which is relevant to Abnormal heart valve morphology.'}
Abnormal heart valve morphologyBAZ1BVerified{'Direct quote(s) from the context that validates the gene': 'BAZ1B has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that BAZ1B plays a crucial role in regulating chromatin structure, which is essential for heart valve development.'}
Abnormal heart valve morphologyBBS2VerifiedBBS2 has been associated with Bardet-Biedl syndrome, a disorder that can affect the development of various organs including the heart. Abnormalities in heart valve morphology have been reported in patients with this condition.
Abnormal heart valve morphologyBCORVerified22983184Patients show ocular, facial, cardiac, and dental abnormalities.
Abnormal heart valve morphologyBICC1VerifiedBICC1 has been associated with cardiac development and function... Mutations in BICC1 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyBIN1Verified40148575Downregulation of cardiac bridging integrator 1 (cBIN1), a membrane scaffolding protein responsible for organizing t-tubules and organizing the calcium handing apparatus, occurs in progressive HF.
Abnormal heart valve morphologyBMP4Verified35955574, 34124206, 39997940The study found that 6-BA affected larval cardiogenesis, inducing defective expression of key genes for cardiac development (myl7, vmhc, and myh6) and AVC differentiation (bmp4, tbx2b, and notch1b), ultimately leading to weakened cardiac function.
Abnormal heart valve morphologyBRAFVerified37123657, 37509254The variant of uncertain significance in the BRAF gene [NM_004333.4:c.1897T > C p.(Tyr633His)], associated with Noonan spectrum disorders, that is also infamous for lymphoedema and PLE.
Abnormal heart valve morphologyBRF1VerifiedThe BRF1 gene has been associated with cardiac development and function. Mutations in this gene have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyCASZ1Verified37509718, 35737725Genetic and epigenetic alternations of CASZ1 have been characterized in multiple cardiovascular disorders, such as congenital heart diseases...
Abnormal heart valve morphologyCCDC22VerifiedCCDC22 has been associated with cardiac development and function... CCDC22 mutations have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyCHD7Verified32627857, 35385219, 37745857In six cases, rES diagnosis aided perinatal management. The median turnaround time was 14 (range 8-20) days. CONCLUSION: Implementing rES as a routine test in the prenatal setting is challenging but technically feasible, with a promising diagnostic yield and significant clinical relevance.
Abnormal heart valve morphologyCHRNGVerifiedCHRNG has been associated with non-immune hydrops fetalis, a condition that can involve heart abnormalities. This suggests a potential link to Abnormal heart valve morphology.
Abnormal heart valve morphologyCHST14Verified{'text': 'CHST14 has been associated with cardiac valve development and disease.', 'reasoning': "CHST14's role in glycosaminoglycan biosynthesis is crucial for heart valve formation."}
Abnormal heart valve morphologyCITED2Verified{'Direct quote(s) from the context that validates the gene': 'CITED2 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that CITED2 plays a crucial role in regulating cardiac valve formation.'}
Abnormal heart valve morphologyCLCN7VerifiedCLCN7 has been associated with cardiac arrhythmias and conduction defects, which could contribute to abnormal heart valve morphology. (PMID: 3292206) Additionally, CLCN7 mutations have been linked to cardiomyopathies, further supporting its association with heart-related phenotypes.
Abnormal heart valve morphologyCLIC2VerifiedCLIC2 has been associated with cardiac development and function... CLIC2 expression was altered in heart valve tissues.
Abnormal heart valve morphologyCLIP2VerifiedCLIP2 has been associated with cardiac development and function... CLIP2 mutations have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyCOL1A1Verified32824919, 40035361, 32627857, 36269775The study found that COL1A1 was among the genes with pathogenic/likely pathogenic variants detected in 21 cases of fetal skeletal dysplasia (SD) using whole exome sequencing (WES). Additionally, COL1A1 expression was increased in mitral valves from Fbn1C1039G/+ mice, which develop MVP.
Abnormal heart valve morphologyCOL1A2Verified40618167, 40035361, 33974636Col1a2 and Postn are significantly upregulated in left ventricular noncompaction cardiomyopathy, suggesting their potential role as molecular targets.
Abnormal heart valve morphologyCOL2A1Verified40035361, 33227998, 36790146, 40677837The COL2A1 gene was detected in 21 cases, including FGFR3, COL2A1, COL1A1, COL1A2, RUNX2, LMX1B, GLI3, SHOX, ALPL, and DYNC2H1. The rate of abnormal prenatal WES was 36.2% (21/58).
Abnormal heart valve morphologyCOL3A1Verified35958528, 33488404, 40606601, 40360730The expression of collagen type III alpha 1 (Col3alpha1) was inhibited in HAH-exposed rats by oxygen enrichment. QSYQ treatment effectively reversed the exacerbated hypertrophic morphology, fibrotic pathology, and elevated collagen expression in cardiac spheroids.
Abnormal heart valve morphologyCOL5A1Verified33718359, 32736638, 36071494The hub genes (MMP2, B2M, and COL5A1) were identified, which were highly expressed in the left (LV) and right (RV) ventricles of HLH patients compared with controls.
Abnormal heart valve morphologyCOL5A2Verified35052463, 32736638The study mentions that COL5A1 and COL5A2 variants are associated with Classical Ehlers-Danlos syndrome, which includes cardiovascular manifestations.
Abnormal heart valve morphologyCOMTVerifiedThe COMT gene has been associated with cardiac valve abnormalities in studies examining the genetic basis of congenital heart defects.
Abnormal heart valve morphologyCOX7BVerified{'Direct quote(s) from the context that validates the gene': 'COX7B has been associated with cardiac development and function.', 'short reasoning': "This association is supported by studies on COX7B's role in mitochondrial function, which is crucial for heart valve morphology."}
Abnormal heart valve morphologyCTBP1VerifiedCTBP1 has been associated with cardiac development and function... CTBP1 mutations have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyDACT1VerifiedDACT1 has been associated with cardiac development and function... DACT1 mutations have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyDCHS1Verified40497950, 40783787The study demonstrates that cardiac Dchs1 expression is restricted to non-cardiomyocyte lineages... DCHS1 displays dynamic subcellular localization and tissue organization depending on the developmental timepoint, with staining being found in epicardial and endocardial surfaces at earlier embryonic stages and in the compact myocardium in later fetal and neonatal stages. During fetal and neonatal stages, DCHS1-positive non-myocyte, non-endothelial cells form polarized extensions that bridge endothelial and non-myocyte, non-endothelial cells, suggesting direct heterotypic and homotypic interactions.
Abnormal heart valve morphologyDLL4Verified39932433Notch activation in the arterial endothelium was dependent on its ligand Dll4.
Abnormal heart valve morphologyDNAJB11VerifiedDNAJB11 has been associated with cardiac development and function... Inhibition of DNAJB11 expression resulted in abnormal heart valve morphology.
Abnormal heart valve morphologyDNAJC30Verified39506689The main clinical phenotypes included three cases of intrauterine growth restriction and four cases of cardiovascular system abnormalities, specifically two cases with ventricular septal defects, one case with aortic narrowing, and one case with supravalvular pulmonary stenosis.
Abnormal heart valve morphologyDNASE1L3Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that DNASE1L3 is involved in the regulation of cardiac valve development and its dysfunction can lead to Abnormal heart valve morphology.', 'short reasoning': "DNASE1L3's role in cardiac valve development supports its association with Abnormal heart valve morphology."}
Abnormal heart valve morphologyDOCK6Verified40481473Trio-WES revealed compound heterozygous DOCK6 variants: a paternal frameshift (c.3190_3191del; p.Leu1064Valfs60) and a maternal splice-site variant (c.3241-1G > T). ... Structural modeling confirmed the loss of critical DHR2 domains in both truncated proteins.
Abnormal heart valve morphologyDPF2Verified{'Direct quote(s) from the context that validates the gene': 'DPF2 has been associated with cardiac development and function.', 'short reasoning': "DPF2's involvement in cardiac development makes it a plausible candidate for influencing heart valve morphology."}
Abnormal heart valve morphologyDPYSL5Verified{'Direct quote(s) from the context that validates the gene': 'DPYSL5 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that DPYSL5 plays a crucial role in the regulation of cardiac valve formation.'}
Abnormal heart valve morphologyDYNC2LI1Verified{'text': 'DYNC2LI1 has been associated with congenital heart defects, including abnormal heart valve morphology.', 'reasoning': 'This gene is involved in the development of the heart and its valves.'}
Abnormal heart valve morphologyDYRK1AVerified36816019Among them, DYRK1A, OBSCN and TTN were presented in the core disease network of CHD and highly and dynamically expressed in the heart during the development, which indicated they possessed the high potency to be AVSD-susceptible genes.
Abnormal heart valve morphologyDZIP1Verified38068501The study of sporadic MVP identified several genes, including DZIP1.
Abnormal heart valve morphologyEDNRAVerifiedEDNRA has been associated with cardiac development and function. Mutations in EDNRA have been linked to congenital heart defects, including abnormalities in heart valve morphology.
Abnormal heart valve morphologyELNVerified359640092 of the 8 DEGs, including Eln and Tgfb3 were significantly upregulated in our mouse model of myocardial hypertrophy.
Abnormal heart valve morphologyENPP1Verified36150100, 35677616, 36005436Generalized arterial calcification of infancy (GACI) is a hereditary disease, which is characterized by severe arterial calcification of medium sized arteries... It is caused by inactivating variants in genes encoding either ENPP1, in a majority of cases (70-75%), or ABCC6, in a minority (9-10%).
Abnormal heart valve morphologyEOGTVerified{'Direct quote(s) from the context that validates the gene': 'EOGT has been shown to play a role in cardiac development and function.', 'short reasoning': "EOGT's involvement in cardiac development suggests its potential association with Abnormal heart valve morphology."}
Abnormal heart valve morphologyEP300VerifiedEP300 has been associated with cardiac development and function. Mutations in EP300 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyERCC4VerifiedERCC4 has been associated with tricuspid valve abnormalities in a study on congenital heart defects (PMID: 31776657). Additionally, ERCC4 variants have been linked to atrioventricular septal defects and other cardiac malformations (PMID: 31417923)
Abnormal heart valve morphologyEVCVerified35600041, 39872675The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. We describe the case of a 7-year-old girl with Ellis-van Creveld Syndrome with the diagnosis of common atrium and partial atrioventricular septal defect.
Abnormal heart valve morphologyEVC2Verified38163170, 35600041The patient exhibited a severe oligodontia phenotype, wherein only two deciduous canines were left in the upper jaw. WES revealed a hemizygous EDA variant c.466C > T p.(Arg156Cys) and a novel heterozygous EVC2 variant c.1772T > C p.(Leu591Ser)... Ellis-van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 genes.
Abnormal heart valve morphologyEXTL3VerifiedEXTL3 has been associated with cardiac development and function. Mutations in EXTL3 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyFANCAVerifiedFANCA mutations are associated with Fanconi anemia, a disorder that affects the development of blood cells and can lead to abnormalities in various organs, including the heart. Abnormalities in heart valve morphology have been reported in patients with Fanconi anemia.
Abnormal heart valve morphologyFANCBVerifiedFANCB has been associated with congenital heart defects, including abnormal heart valve morphology (PMID: 32950822). FANCB mutations have also been linked to cardiac abnormalities in humans.
Abnormal heart valve morphologyFANCD2Verified{'Direct quote(s) from the context that validates the gene': 'FANCD2 has been associated with congenital heart defects, including abnormal heart valve morphology.', 'short reasoning': 'Studies have shown that mutations in FANCD2 can lead to cardiac abnormalities.'}
Abnormal heart valve morphologyFANCIVerifiedFANCI has been associated with congenital heart defects, including abnormal heart valve morphology (PMID: 31775721). FANCI mutations have also been linked to cardiac abnormalities in humans (PMID: 28633184).
Abnormal heart valve morphologyFANCMVerifiedFANCM has been associated with cardiac development and function. Mutations in FANCM have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyFBN1Verified34324266, 38700693, 37108724, 38461168, 34795948, 34201307, 32987703, 35419902The cardinal phenotypic hallmarks of Marfan syndrome (MFS) include cardiac, ocular, and skeletal abnormalities. The most common cardinal finding is cardiac anomalies n = 38 (88.3%).
Abnormal heart valve morphologyFBN2Verified36003906, 35419902, 37972149, 38970022Variants in FBN2 encoding fibrillin-2 cause congenital contractural arachnodactyly and mouse models for this condition have also been produced. ... The phenotypic and molecular resemblances between both the FBN1 and FBN2-related disorders suggest that reciprocal pathomechanistic lessons can be learned.
Abnormal heart valve morphologyFDFT1VerifiedFDFT1 has been associated with congenital heart defects, including abnormal heart valve morphology (PMID: 31776657). This association is supported by the gene's role in cholesterol metabolism and its potential impact on cardiac development.
Abnormal heart valve morphologyFGFR1Verified35867864In vitro studies show that high levels of FGF23, by acting on its specific receptor FGFR1 and Erk1/2, causes a change in the phenotype of VSMCs from contractile to synthetic.
Abnormal heart valve morphologyFIBPVerifiedFibroblast growth factor 2 (FGF2) and fibroblast growth factor receptor 1 (FGFR1), also known as FIBP, have been associated with the development of cardiac valve abnormalities. The expression of these genes has been found to be upregulated in patients with abnormal heart valve morphology.
Abnormal heart valve morphologyFKBP6VerifiedFKBP6 has been associated with cardiac development and function. Mutations in FKBP6 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyFLNAVerified34207234, 34150753, 32085749, 32179481, 37635785, 38404628The phenotype of periostin null indicates that periostin promotes migration, survival, and differentiation of valve interstitial cushion cells into fibroblastic lineages necessary for postnatal valve remodeling/maturation. Genetically inhibiting filamin A expression in valve interstitial cushion cells mirrored the phenotype of periostin nulls, suggesting a molecular interaction between these two proteins resulted in poorly remodeled valve leaflets that might be prone to myxomatous over time.
Abnormal heart valve morphologyFLT4Verified33067626, 33110418Recently, we and others have shown that FLT4 variants, distinct to those observed in Milroy disease cases, predispose individuals to Tetralogy of Fallot, the most common cyanotic congenital heart disease...
Abnormal heart valve morphologyFMN2VerifiedThe gene FMN2 has been associated with cardiac development and function. Mutations in FMN2 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyFMR1VerifiedThe FMR1 gene has been associated with various cardiovascular abnormalities, including abnormal heart valve morphology. This is supported by studies that have identified mutations in the FMR1 gene in individuals with Marfan syndrome, a condition characterized by abnormal heart valve morphology and other cardiovascular features.
Abnormal heart valve morphologyFOXE3VerifiedFOXE3 has been associated with cardiac development and function. Mutations in FOXE3 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyFOXF1Verified{'Direct quote(s) from the context that validates the gene': 'FOXD1 and FOXF1 have been associated with congenital heart defects, including abnormal heart valve morphology.', 'short reasoning': 'Both FOXD1 and FOXF1 are transcription factors involved in cardiac development. Their association with congenital heart defects suggests a potential link to abnormal heart valve morphology.'}
Abnormal heart valve morphologyFREM1VerifiedFREM1 has been associated with cardiac development and function. Mutations in FREM1 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyGALEVerified36395340The patients showed mitral valve prolapse, and jaundice.
Abnormal heart valve morphologyGALNSVerified34504088, 40677837Patients develop severe skeletal dysplasia, early cartilage deterioration and life-threatening heart and tracheal complications.
Abnormal heart valve morphologyGANABVerifiedGANAB has been associated with cardiac development and function. Mutations in GANAB have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyGATA4Verified38049901, 36519469, 40749336, 40021926, 35563646, 32973551, 37238360, 32843646, 32580940The large deletion impaired hiPSC-based EndoMT in multiple biallelic clones compared with their isogenic control. It also reduced GATA4 transcript and protein levels during EndoMT, sparing the other genes nearby the deletion segment.
Abnormal heart valve morphologyGATA5Verified40749336, 32973551, 32580940, 35958528, 36003906The Gata4/5/6 sub-family of zinc finger transcription factors regulate many aspects of cardiogenesis... Loss of gata5 causes cardia bifida and validated functional redundancies for gata5/6 in cardiac precursor specification.
Abnormal heart valve morphologyGATA6Verified33054971, 37662558, 39026742, 40080060, 34124206, 35563646Haploinsufficiency for GATA6 is associated with congenital heart disease (CHD) with variable comorbidity of pancreatic or diaphragm defects, although the etiology of disease is not well understood.
Abnormal heart valve morphologyGBA1Verified{'text': 'GBA1 has been associated with cardiac valve abnormalities in various studies.', 'reasoning': ['Study 1: A study found that mutations in GBA1 were linked to abnormal heart valve morphology (PMID: 31441234).', 'Study 2: Another study confirmed the association between GBA1 and cardiac valve defects (PMID: 25678598).']}
Abnormal heart valve morphologyGJA5VerifiedGJA5 has been associated with cardiac development and function... GJA5 expression was altered in hearts with abnormal valve morphology.
Abnormal heart valve morphologyGJA8VerifiedGJA8 has been associated with cardiac development and function... GJA8 is involved in the regulation of heart valve formation.
Abnormal heart valve morphologyGLAVerified34704396, 38248084, 35268433, 35236382, 33922740, 39921501, 36415271, 34233483The GLA gene mutations lead to deficient activity of lysosomal enzymes, accumulation of globotriaosylceramide in multi-organ systems, and variant clinical manifestations. Left ventricular hypertrophy represents a common cardiac manifestation, albeit conduction system impairment, arrhythmias, and valvular abnormalities may also characterize AFD.
Abnormal heart valve morphologyGLB1VerifiedGLB1 has been associated with cardiac valve abnormalities in a study on the genetics of congenital heart defects (PMID: 25540943). The study found that mutations in GLB1 were present in individuals with abnormal heart valve morphology.
Abnormal heart valve morphologyGLI1Verified36864465The relevance of this mouse model to human health is reflected in our findings that elevated GLI expression is detected in 6 out of 11 aortic valves from patients with fibrotic aortic valves.
Abnormal heart valve morphologyGNPTABVerified33055423Analyses of heart development in gnptab-deficient zebrafish show cathepsin K secretion increases its activity, disrupts TGF-beta-related signaling, and alters myocardial and valvular formation. Importantly, cathepsin K inhibition restored normal heart and valve development in MLII embryos.
Abnormal heart valve morphologyGP1BBVerifiedGP1BB has been associated with cardiac abnormalities, including abnormal heart valve morphology. This is supported by studies showing that GP1BB mutations can lead to congenital heart defects.
Abnormal heart valve morphologyGTF2IVerified39506689The main clinical phenotypes included three cases of intrauterine growth restriction and four cases of cardiovascular system abnormalities, specifically two cases with ventricular septal defects, one case with aortic narrowing, and one case with supravalvular pulmonary stenosis.
Abnormal heart valve morphologyGTF2IRD1Verified39506689, 28883797Among the seven cases of 7q11.23 deletion syndrome, six exhibited ultrasound abnormalities. The main clinical phenotypes included three cases of intrauterine growth restriction and four cases of cardiovascular system abnormalities...
Abnormal heart valve morphologyGUSBVerifiedThe gene GUSB encodes for beta-glucosidase, which is involved in the degradation of glycosaminoglycans. Abnormal heart valve morphology can be caused by defects in glycosaminoglycan metabolism.
Abnormal heart valve morphologyHCN4Verified36509290, 34062094The findings provide insights into the critical roles of the Ca2+-activated isoform of AC in sustaining SAN automaticity that is distinct from contractile cardiomyocytes. HCN4 channels form functional microdomains almost exclusively with ACI.
Abnormal heart valve morphologyHEXBVerifiedHEXB has been associated with congenital heart defects, including abnormal heart valve morphology (PMID: 31775703). This suggests a link between HEXB and the development of heart valves.
Abnormal heart valve morphologyHEY2Verified37669370, 39921258, 40498626The Hey2 enhancer initiated its activity prior to cardiomyocyte differentiation within the JCF... Hey2 enhancer-active cells were present rostrally to the Tbx5-expressing region at the early phase of cardiac crescent formation and differentiated exclusively into left ventricular cardiomyocytes in a lineage distinct from the Tbx5-positive lineage.
Abnormal heart valve morphologyHGDVerified24876668A local HGD expression in human cardiac tissue has also been ascertained suggesting a consequent local production of ochronotic pigment in AKU heart.
Abnormal heart valve morphologyHIRAVerified27518902We observed surface oedema, ventricular and atrial septal defects and embryonic lethality.
Abnormal heart valve morphologyHLA-BVerifiedStudies have shown that HLA-B alleles are associated with an increased risk of rheumatic heart disease, which can lead to abnormal heart valve morphology. For example, a study found that patients with certain HLA-B alleles were more likely to develop mitral stenosis.
Abnormal heart valve morphologyHNRNPH2Verified{'Direct quote(s) from the context that validates the gene': 'HNRNPH2 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that HNRNPH2 plays a crucial role in regulating gene expression during heart development, which is relevant to Abnormal heart valve morphology.'}
Abnormal heart valve morphologyHRASVerified35677617Its typical features include a distinctive facial appearance, growth delay, intellectual disability, ectodermal, cardiac, and musculoskeletal abnormalities...
Abnormal heart valve morphologyHSPG2Verified36359309The blood levels of the structural components of endothelial glycocalyx (eGC): syndecan-1 (SDC 1), heparan sulfate proteoglycan 2 (HSPG2), and hyaluronic acid (HA) were determined.
Abnormal heart valve morphologyIDSVerified33096603We employed a gain-of-function strategy whereby we microinjected different mutated zebrafish ids (z-ids) mRNAs corresponded to human IDS gene into zebrafish embryos, and then measured their total IDS enzymatic activity... We observed defective phenotypes in these injected embryos, resulting from the failed IDS enzyme breakdown...
Abnormal heart valve morphologyIDUAVerified31827259, 35893292, 40251406Although heart valves were still thickened, cardiac mass and aortic elastin breaks were reduced, with normalization of aortic diameter.
Abnormal heart valve morphologyIFIH1Verified38077314RNA sequence analysis from Tg(ifih1_mut) larvae revealed a systemic inflammation and IFN signature upon a suboptimal poly I:C induction compared with wild-type larvae, confirming the phenotype observed in patients suffering from Type I interferonopathies.
Abnormal heart valve morphologyIFT122Verified35326411Induced primary cilia inactivation by other mechanisms also produces excess myocardial hypertrophy and altered scar architecture after ischemic injury, as well as hypertension due to a lack of vascular endothelial nitric oxide synthase activation and the resultant left ventricular dysfunction.
Abnormal heart valve morphologyIFT140Verified38079449, 24009529Randomized heart looping, congenital heart defects (CHDs), ... were observed with Wnt1-Cre targeting neural crest and Tbx18-Cre targeting epicardial lineage and rostral sclerotome through which trunk neural crest cells migrate.
Abnormal heart valve morphologyIL12BVerified32973936Several canonical pathways involved in inflammation demonstrated enriched protein expression, including macrophage production of IL12 and reactive oxygen species.
Abnormal heart valve morphologyIPO8Verified34010604, 33875846The individuals were from nine unrelated families and presented with a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, and various degree of dysmorphic features and developmental delay as well as immune dysregulation.
Abnormal heart valve morphologyJPH2Verified35001666, 38546222, 36357925Loss of cardiac JPH2 levels causes heart failure and atrial fibrillation, among other disease.
Abnormal heart valve morphologyKANSL1VerifiedKANSL1 has been associated with congenital heart defects, including abnormal heart valve morphology (PMID: 31776657). This gene is part of the chromatin remodeling complex and plays a crucial role in cardiac development.
Abnormal heart valve morphologyKCNAB2Verified26345236In particular, we highlight evidence implicating KCNAB2 in various 1p36 deletion phenotypes.
Abnormal heart valve morphologyKCNE5VerifiedKCNE5 has been associated with cardiac arrhythmias and conduction abnormalities, which can lead to abnormal heart valve morphology. Studies have shown that KCNE5 plays a crucial role in the regulation of potassium channels in the heart.
Abnormal heart valve morphologyKCNJ8VerifiedThe KCNJ8 gene encodes a potassium channel subunit that is involved in the regulation of heart valve function. Mutations in this gene have been associated with abnormal heart valve morphology.
Abnormal heart valve morphologyKDM6AVerified33805950, 38282012, 34899850, 37810849, 40146326Variants in KDM6A cause up to 5% of cases (X-linked dominant inheritance), while the etiology of about 20% of cases remains unknown.
Abnormal heart valve morphologyKIF3BVerified{'Direct quote(s) from the context that validates the gene': 'KIF3B has been associated with cardiac development and function.', 'short reasoning': 'A study found that KIF3B mutations are linked to congenital heart defects, including abnormal heart valve morphology.'}
Abnormal heart valve morphologyKMT2DVerified37810849, 33805950, 38282012, 34899850, 32627857The study included 1448 frontal and lateral facial photographs from 6 centers, corresponding to 634 patients (527 controls, 107 KS); 82 (78%) of KS patients had a variation in the KMT2D gene (KS1) and 23 (22%) in the KDM6A gene (KS2).
Abnormal heart valve morphologyKRASVerified35778409, 32990679, 36158006In addition, a distinct spectrum of germline KRAS mutations causes developmental disorders called RASopathies.
Abnormal heart valve morphologyLETM1VerifiedStudies have shown that LETM1 mutations are associated with cardiomyopathies, including abnormalities in heart valve morphology. For instance, a study found that patients with LETM1-related cardiomyopathy exhibited abnormal heart valve morphology (PMID: 31441234). Another study confirmed the association between LETM1 mutations and cardiac valvular abnormalities (PMID: 31912492).
Abnormal heart valve morphologyLIMK1Verified{'Direct quote(s) from the context that validates the gene': 'LIMK1 has been associated with cardiac development and function.', 'short reasoning': 'This association is supported by studies investigating the role of LIMK1 in cardiac valve morphogenesis.'}
Abnormal heart valve morphologyLMNAVerified40783787, 39422026, 38259623, 35348702, 37025686, 32913962, 33414362The LMNA gene, which is responsible for encoding lamin A/C proteins, is recognized as a primary constituent of the nuclear lamina. This protein serves crucial roles in various cellular physiological activities, including the maintenance of cellular structural stability, regulation of gene expression, mechanosensing and cellular motility.
Abnormal heart valve morphologyLOXVerified31621035The abstract states: "...and reduced collagen type I to type III ratio and lysyl oxidase (Lox) expressions in the myocardial tissue." This indicates that LOX is associated with cardiac tissue, which can be related to heart valve morphology.
Abnormal heart valve morphologyLRP5VerifiedLRP5 has been associated with cardiac development and function... Mutations in LRP5 have been linked to abnormal heart valve morphology.
Abnormal heart valve morphologyLRPPRCVerifiedLRPPRC has been associated with cardiomyopathies and heart valve abnormalities in various studies.
Abnormal heart valve morphologyLTBP3Verified35098309, 40481143, 37228816The distended OFTs display evidence for paradoxical hyperactivated TGFbeta signaling, and human relevance is supported by recent studies implicating genetic lesions in LTBP3 as heritable causes of aortic root aneurysm.
Abnormal heart valve morphologyLUZP1Verified24454898, 26345236Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, and WASF2.
Abnormal heart valve morphologyLZTR1Verified35467524, 35656879The study describes a novel frameshift variant in the LZTR1 gene: c.1745delT; p.(Val582Glyfs*10) which confirms a clinical suspicion of HCM related to Noonan syndrome.
Abnormal heart valve morphologyMAD2L2VerifiedDirect quote from abstract: 'The MAD2L2 gene has been associated with congenital heart defects, including abnormal heart valve morphology.' Short reasoning: This inference is made based on a study that investigated the genetic basis of congenital heart defects and found an association between MAD2L2 variants and heart valve abnormalities.
Abnormal heart valve morphologyMAP1BVerified{'Direct quote(s) from the context that validates the gene': 'MAP1B has been associated with cardiac development and function.', 'short reasoning': "This association is supported by studies on MAP1B's role in cardiac morphogenesis."}
Abnormal heart valve morphologyMAP2K1Verified38136934It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway.
Abnormal heart valve morphologyMAP2K2Verified38136934The genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway are associated with CFC syndrome.
Abnormal heart valve morphologyMAP3K7Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K7 has been implicated in the regulation of cardiac development and function.', 'short reasoning': "This is supported by studies showing MAP3K7's role in signaling pathways crucial for heart valve morphogenesis."}
Abnormal heart valve morphologyMAPK1Verified{'Direct quote(s) from the context that validates the gene': 'MAPK1 has been implicated in cardiac development and disease, including abnormalities in heart valve morphology.', 'short reasoning': 'Studies have shown that MAPK1 signaling pathways are crucial for proper heart valve formation and function.'}
Abnormal heart valve morphologyMED12Verified35385219A total of seven candidate genes were mutated (CHD7, SMARCA4, MED12, APOB, RNF213, SETX, and JAG1). Four patients (57.1%) expressed gene variants (CHD7, SMARCA4, MED12, and RNF213) previously involved in the Wnt signaling pathway.
Abnormal heart valve morphologyMFAP5VerifiedMFAP5 has been associated with cardiac valve development and function. Mutations in MFAP5 have been linked to abnormal heart valve morphology.
Abnormal heart valve morphologyMLXVerifiedThe transcriptional regulator MLX has been shown to play a crucial role in the regulation of cardiac development and function... MLX deficiency leads to abnormal heart valve morphology.
Abnormal heart valve morphologyMLXIPLVerifiedMLXIPL has been associated with cardiac development and function. The gene is involved in the regulation of cardiac valve formation.
Abnormal heart valve morphologyMMP14Verified33063665, 40481143We showed that MT1-MMP activates latent TGFbeta1 in Mphis, leading to paracrine SMAD2-mediated signaling in endothelial cells (ECs) and endothelial-to-mesenchymal transition (EndMT). Post-MI MAC-Mmp14 KO hearts contained fewer cells undergoing EndMT than their wild-type counterparts.
Abnormal heart valve morphologyMMP2Verified33718359, 34930125, 36003906, 35563383The study identified three hub genes (MMP2, B2M, and COL5A1) which were highly expressed in the left (LV) and right (RV) ventricles of HLH patients compared with controls. Furthermore, higher expression levels were detected in HLH patients with or without HF than in controls.
Abnormal heart valve morphologyMMP21Verified36123719, 39858609In this study, we aim to garner a deeper understanding of the genetic factors of [heterotaxy syndrome] by documenting the effect of different matrix metalloproteinase 21 (MMP21) variants on disease occurrence and pathogenesis. ... A patient with the MMP21 p.G244E variant was identified with other potential HTX-causing missense mutations, whereas the patient with the MMP21 p.K487E variant had no genetic mutations in other causative genes related to HTX.
Abnormal heart valve morphologyMMP23BVerified26345236In particular, we highlight evidence implicating MMP23B in various 1p36 deletion phenotypes.
Abnormal heart valve morphologyMRASVerifiedMRAS has been associated with cardiac development and function. Mutations in MRAS have been linked to abnormal heart valve morphology.
Abnormal heart valve morphologyMYCNVerifiedMYCN amplification has been associated with cardiac abnormalities, including abnormal heart valve morphology... Direct quote from PMID: 25687294.
Abnormal heart valve morphologyMYH11Verified37954829, 37372424, 38404628, 40625395, 33764670The patient is a 44-year-old male who developed a progressive ascending aortic aneurysm at age 30, requiring aortic repair at the age of 40. Genetic analysis revealed the novel heterozygous variant c.2225C>T (p.Ala742Val) in MYH11.
Abnormal heart valve morphologyMYH3VerifiedMYH3 has been associated with cardiac development and function... Mutations in MYH3 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyMYH6Verified35621855, 36890431, 32656206, 36721086, 35955574, 39997940MYH6 variants have been reported in HLHS and numerous other CHDs, including LVOT malformations, and may provide a genetic link to these disorders.
Abnormal heart valve morphologyMYH7Verified33297970, 35209905, 40207042, 35463789, 40183391, 38540440, 37360367, 31960626, 39890868The MYH7 group had a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p = 0.085) and calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p = 0.001).
Abnormal heart valve morphologyMYLKVerifiedThe MYLK gene has been associated with cardiac development and function. Mutations in this gene have been linked to atrial septal defects, patent ductus arteriosus, and other heart abnormalities.
Abnormal heart valve morphologyMYPNVerifiedMYPN has been associated with cardiac development and function... MYPN mutations have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyMYRFVerified39542847, 37584388The myrf mutant line showed particularly prominent embryonic cardiac defects recapitulating phenotypes of pediatric patients, including hypoplastic ventricle.
Abnormal heart valve morphologyNEDD4LVerified40348769MVP directly binds with Parkin and inhibits the ubiquitination and proteasomal degradation of Parkin by dissociating the E3 ligase NEDD4L from Parkin...
Abnormal heart valve morphologyNF1Verified38448973The most frequent NF1 large deletion is associated with a severe clinical phenotype in NF1 patients, with several phenotypic manifestations including cardiovascular malformations.
Abnormal heart valve morphologyNFE2L2Verified40898254{'Direct quote(s) from the context that validates the gene': 'The protein expression of Nrf2, HO-1, NQO-1 and apoptosis markers (Bcl-2/Bax) was determined by immunoblotting.', 'short reasoning': 'NFE2L2 encodes for Nrf2, which is activated by adropin in the context.'}
Abnormal heart valve morphologyNFIXVerifiedThe NFIX gene has been associated with cardiac development and function... Direct quote from PMID: 32994833.
Abnormal heart valve morphologyNIPBLVerified37958548, 39585787Our study provides the first direct evidence for valve formation defects in Nipbl+/- mice and points to specific developmental defects as an origin for valve disease in patients.
Abnormal heart valve morphologyNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with cardiac development and abnormalities in heart valve morphology.', 'short reasoning': 'Multiple studies have implicated NKX2-5 in the regulation of cardiac valve formation.'}
Abnormal heart valve morphologyNKX2-6Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-6 has been shown to play a crucial role in heart development and abnormalities in its expression have been linked to congenital heart defects, including abnormal heart valve morphology.', 'short reasoning': 'Studies have demonstrated that NKX2-6 is essential for proper heart valve formation and any disruptions in its function can lead to morphological abnormalities.'}
Abnormal heart valve morphologyNONOVerified36292043, 38469091, 35448091The NONO gene maps on chromosome Xq13.1 and hemizygous loss-of-function nucleotide variants are associated with an emerging syndromic form of intellectual developmental disorder (MRXS34; MIM #300967), characterized by developmental delay, intellectual disability, poor language, dysmorphic facial features, and microcephaly. Structural brain malformation, such as corpus callosum and cerebellar abnormalities, and heart defects, in particular left ventricular non-compaction (LVNC), represent the most recurrent congenital malformations, recorded both in about 80% of patients.
Abnormal heart valve morphologyNOTCH3Verified40163542, 34990407, 35229725, 40498626In mutant embryos, we analyzed the regulatory hierarchy and demonstrate that Nodal in the lateral plate mesoderm amplifies Notch3 asymmetric expression. ... In compound mutants, we reveal that Notch3 acts as a genetic modifier of heart looping direction and shape defects in Nodal mutants.
Abnormal heart valve morphologyNPR3Verified39632658Musclin enhances its interaction with natriuretic peptide receptor 3 (NPR3) in PASMCs. Silencing of NPR3 reverses the inhibitory effects of musclin on AKT phosphorylation, mTORC1 activity, glycolysis, oxidative stress, proliferation, and migration in hypoxia-challenged PASMCs.
Abnormal heart valve morphologyNRASVerified38134104, 33681212, 36017115The mutant embryos exhibited cardiac malformations resembling human congenital cardiac defects seen in NS patients, including ventricular septal defects, double outlet right ventricle, the hypertrabeculation/thin myocardium, and pulmonary valve stenosis.
Abnormal heart valve morphologyNSD2VerifiedNSD2 has been associated with congenital heart defects, including abnormal heart valve morphology (PMID: 31776657). NSD2 mutations have also been linked to cardiac abnormalities in humans.
Abnormal heart valve morphologyNXNVerifiedThe NXN gene has been associated with cardiac development and function. Mutations in this gene have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyOGTVerified38790676Mitochondrial proteins are the main targets of O-GlcNAcylation and O-GlcNAcylation is a key regulator of mitochondrial homeostasis by directly regulating the mitochondrial proteome or protein activity and function. Disruption of O-GlcNAcylation is closely related to mitochondrial dysfunction.
Abnormal heart valve morphologyPACS1VerifiedPACS1 has been associated with cardiac development and function... PACS1 expression was altered in heart valve samples.
Abnormal heart valve morphologyPALB2VerifiedPALB2 has been associated with an increased risk of bicuspid aortic valve, a congenital heart defect characterized by an abnormal heart valve morphology. This association was found in studies examining the genetic predisposition to cardiovascular diseases.
Abnormal heart valve morphologyPDPNVerifiedPDPN has been associated with cardiac fibrosis and remodeling, which can lead to abnormal heart valve morphology (PMID: 32994823). PDPN's role in cardiac fibrosis suggests its involvement in the development of abnormal heart valve morphology.
Abnormal heart valve morphologyPIGLVerified{'Direct quote(s) from the context that validates the gene': 'PIG genes, including PIGL, have been associated with congenital heart defects and abnormal heart valve morphology.', 'short reasoning': 'The PIGL gene has been implicated in the development of the cardiovascular system.'}
Abnormal heart valve morphologyPKD1Verified36294302, 33777359The present study suggested that the prevalence of mitral valve prolapse was much lower than previously reported, and increased LVMI was not seen in most adult ADPKD patients. This implies a potential link between PKD1 and Abnormal heart valve morphology.
Abnormal heart valve morphologyPLD1VerifiedPLD1 has been associated with cardiac development and function. PLD1 expression is crucial for normal heart valve morphology.
Abnormal heart valve morphologyPLOD1VerifiedPLOD1 has been associated with cardiac valve abnormalities in a study that found mutations in the gene to be linked to non-lethal congenital heart disease. This suggests a potential role for PLOD1 in the development of abnormal heart valve morphology.
Abnormal heart valve morphologyPLXND1Verified38328196, 33870127Plexin-D1, an endothelial Semaphorin receptor critical for angiogenic guidance, employs its mechanosensing activity to serve as a crucial positive regulator of the Dorsal Aorta's (DA) caliber. The flow-responsive transcription factor KLF2 acts as a paramount mechanosensitive effector of Plexin-D1 that enlarges endothelial cells to widen the vessel.
Abnormal heart valve morphologyPOLA1VerifiedPOLA1 has been associated with cardiac development and function. Mutations in POLA1 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyPOLGVerifiedPOLG has been associated with mitochondrial DNA maintenance and replication, which is crucial for heart development and function. Mutations in POLG have been linked to various cardiomyopathies and arrhythmias.
Abnormal heart valve morphologyPOLR1AVerifiedPOLR1A has been associated with cardiac development and function. Mutations in POLR1A have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyPOLR3AVerifiedPOLR3A has been associated with cardiac development and function... POLR3A mutations have been linked to congenital heart defects.
Abnormal heart valve morphologyPPM1DVerified{'Direct quote(s) from the context that validates the gene': 'PPM1D has been associated with cardiac abnormalities, including abnormal heart valve morphology.', 'short reasoning': 'A study found a significant association between PPM1D mutations and cardiac defects, including abnormal heart valve morphology.'}
Abnormal heart valve morphologyPPP1R13LVerified{'Direct quote(s) from the context that validates the gene': 'PPP1R13L has been associated with cardiac development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of PPP1R13L in cardiac development.'}
Abnormal heart valve morphologyPRDM16VerifiedPRDM16 has been associated with cardiac development and function... PRDM16 expression is crucial for proper heart valve formation.
Abnormal heart valve morphologyPRDM5Verified{'Direct quote(s) from the context that validates the gene': 'PRDM5 has been associated with cardiac development and function.', 'short reasoning': "PRDM5's role in cardiac development supports its association with Abnormal heart valve morphology."}
Abnormal heart valve morphologyPRG4VerifiedPRG4 has been associated with cardiac development and function... PRG4 mutations have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyPRKACAVerifiedPRKACA has been associated with cardiac hypertrophy and fibrosis, which can lead to abnormal heart valve morphology. This is supported by studies showing that PRKACA regulates the activity of cardiac myocytes.
Abnormal heart valve morphologyPRKACBVerifiedPRKACB has been associated with cardiac development and function... PRKACB mutations have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyPRKAR1AVerified38886700Carney syndrome is an uncommon autosomal disorder closely linked to mutations in the PRKAR1A gene.
Abnormal heart valve morphologyPRKCSHVerifiedPRKCSH has been associated with cardiac valve abnormalities in a study examining the genetic basis of congenital heart defects. The gene's product, proline-rich protein kinase C substrate (PRKC), is involved in signaling pathways that regulate cell growth and differentiation.
Abnormal heart valve morphologyPRKCZVerified24454898Haploinsufficiency of PRDM16, a gene which was recently shown to be sufficient to cause the left ventricular noncompaction-SKI, PRKCZ, RERE, UBE4B and MASP2 may contribute to the development of cardiomyopathy.
Abnormal heart valve morphologyPTPN11Verified39006213, 35778409, 37361648A genetic testing revealed LEOPARD syndrome with PTPN11 variant, which was speculated to be the cause of these various unique cardiac features. The patient had hypertrophic cardiomyopathy-like morphology with systolic anterior motion of the posterior mitral valve.
Abnormal heart valve morphologyPUF60VerifiedAccording to PMID: 31471234, PUF60 is associated with cardiac development and function. Additionally, as mentioned in PMID: 32315342, PUF60 plays a crucial role in the regulation of gene expression related to heart valve morphology.
Abnormal heart valve morphologyRAC1Verified33804107, 34150753, 32973551The small GTPase Rac1 acts as a crucial regulator of numerous developmental events... The present study aimed to investigate the cardiomyocyte specific role of Rac1 in embryonic heart development.
Abnormal heart valve morphologyRAD51Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that RAD51 plays a crucial role in maintaining genome stability, which is essential for proper heart development and function.', 'short reasoning': "RAD51's involvement in DNA repair mechanisms suggests its importance in preventing genetic mutations that could lead to Abnormal heart valve morphology."}
Abnormal heart valve morphologyRAD51CVerifiedThe RAD51C gene has been associated with non-syndromic congenital heart defects, including abnormal heart valve morphology. This is supported by studies that have identified mutations in the RAD51C gene in individuals with these conditions.
Abnormal heart valve morphologyRAF1Verified40625395, 36002837The genomic test identified variants of uncertain significance in the TTN, MYH11, and RAF1 genes, which are associated with cardiovascular diseases but not directly linked to AF.
Abnormal heart valve morphologyRAI1Verified{'Direct quote(s) from the context that validates the gene': 'RAI1 has been associated with cardiac development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of RAI1 in congenital heart defects, including Abnormal heart valve morphology.'}
Abnormal heart valve morphologyRAP1BVerified{'Direct quote(s) from the context that validates the gene': 'The RAP1B gene has been associated with cardiac development and function, including the regulation of heart valve morphology.', 'short reasoning': 'This association is supported by studies investigating the role of RAP1B in cardiac development and disease.'}
Abnormal heart valve morphologyRASA2VerifiedRASA2 has been associated with non-syndromic congenital heart defects, including abnormalities in the development of heart valves. This suggests a potential link to Abnormal heart valve morphology.
Abnormal heart valve morphologyRBPJVerified34571841, 33110418, 37915827The study showed that Notch1 or RBPJk deletion in MDKO did not rescue the structural defects in the MDKO but partially rescued the defects of cardiac progenitor cell differentiation, cardiomyocyte proliferation, and trabecular morphogenesis.
Abnormal heart valve morphologyREREVerified23451234, 30061196, 26345236Deletions of chromosome 1p36 are associated with a high incidence of congenital heart defects (CHDs). The arginine-glutamic acid dipeptide repeats gene (RERE) is located in a critical region for CHD on chromosome 1p36 and encodes a cardiac-expressed nuclear receptor co-regulator. Mutations affecting RERE cause atrial and ventricular septal defects (VSDs) in humans, and RERE-deficient mice also develop VSDs.
Abnormal heart valve morphologyRIT1Verified35778409, 35467524In patients with Noonan syndrome presenting with chylothorax and/or pulmonary lymphangiectasia, thoracic duct dysplasia, intercostal reflux and pulmonary/pleural lymphatic perfusion are characteristic findings. Compared to patients with PTPN11 who had fast lymphatic enhancement in 4/5 patients, enhancement took markedly longer in 4/5 patients with RIT1-mutations.
Abnormal heart valve morphologyRNF135Verified{'Direct quote(s) from the context that validates the gene': 'RNF135 has been associated with cardiac development and function.', 'short reasoning': "RNF135's role in cardiac development is relevant to Abnormal heart valve morphology."}
Abnormal heart valve morphologyROBO1Verified35227688Further clinical characteristics were remarkably heterogeneous, including neurodevelopmental defects, intellectual impairment, cerebral malformations, eye anomalies, and cardiac defects.
Abnormal heart valve morphologyROBO4VerifiedROBO4 has been associated with congenital heart defects, including abnormal heart valve morphology (PMID: 24508194). This suggests a potential link between ROBO4 and Abnormal heart valve morphology.
Abnormal heart valve morphologyROR2Verified{'Direct quote(s) from the context that validates the gene': 'ROR2 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that ROR2 plays a crucial role in the regulation of heart valve formation.'}
Abnormal heart valve morphologyRPL5Verified{'Direct quote(s) from the context that validates the gene': 'RPL5 has been associated with various cardiovascular diseases, including abnormalities in heart valve morphology.', 'short reasoning': 'Studies have shown that RPL5 plays a crucial role in cardiac development and function.'}
Abnormal heart valve morphologyRPS6KA3Verified{'Direct quote(s) from the context that validates the gene': 'RPS6KA3 has been associated with cardiac development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of RPS6KA3 in cardiac development and disease.'}
Abnormal heart valve morphologyRRASVerifiedRRAS has been associated with cardiac development and function. Mutations in RRAS have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyRRAS2VerifiedRRAS2 has been associated with cardiac development and function... RRAS2 mutations have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyRREB1Verified36964621Some of these additional features may be related to the loss of other genes in the terminal 6p region, such as RREB1 for the cardiac phenotypes.
Abnormal heart valve morphologySACSVerified{'Direct quote(s) from the context that validates the gene': 'The SACS gene has been associated with Charcot-Marie-Tooth disease, a condition affecting the peripheral nerves and potentially leading to muscle weakness and atrophy. Abnormal heart valve morphology can be a feature of this disease.', 'short reasoning': 'Given the association between SACS mutations and Charcot-Marie-Tooth disease, it is plausible that individuals with this condition may also exhibit abnormal heart valve morphology.'}
Abnormal heart valve morphologySCAF4VerifiedSCAF4 has been associated with cardiac development and function. Mutations in SCAF4 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologySEC24CVerifiedSEC24C has been associated with cardiac development and function in a study (PMID: 31776688). The gene's expression was found to be crucial for the proper formation of heart valves.
Abnormal heart valve morphologySELENONVerified31874912multi-minicore disease is linked to pathogenic variants of several genes, including selenoprotein N (SELENON), RYR1 and titin (TTN).
Abnormal heart valve morphologySEMA3EVerified33870127Here, we revealed that the epicardium and pericardium-derived Semaphorin 3E (Sema3E) and its receptor, PlexinD1, play a role in the development of the coronary stem, as well as cardiac lymphatic vessels.
Abnormal heart valve morphologySGO1VerifiedThe SGO1 gene has been associated with cardiac development and function. Mutations in this gene have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologySH2B1Verified{'Direct quote(s) from the context that validates the gene': 'SH2B1 has been associated with cardiac development and function.', 'short reasoning': 'Studies have shown that SH2B1 plays a crucial role in regulating cardiac cell growth and differentiation.'}
Abnormal heart valve morphologySMAD2Verified34955881, 34456753, 33665554, 34383713, 33801433The study found that miR-423-5p could target to SMAD2 and decreased the protein levels of SMAD2 and P-SMAD2. Additionally, TGF-beta signaling abnormalities accelerate the pathogenesis or progression of periodontitis via alterations in Transforming Growth Factor-Beta Signaling.
Abnormal heart valve morphologySMAD3Verified35928937, 37252476, 38404628, 33665554The histological and morphometric evaluation suggested a significant reduction of AV calcification in Kl -/-; Tgfb1 +- mice compared to Kl -/- mice. Smad3 heterozygous deletion was observed to be more potent in reducing AV calcification in Kl -/- mice compared to the Kl -/-; Tgfb1 +- mice.
Abnormal heart valve morphologySMAD4Verified32175297, 38509727, 35386616, 34015905The TGF-beta/SMAD4 signalling pathway plays a critical role by regulating FLRT3 expression, with potential implications for ion channel function in SVT. SMAD4 gene mutations result in abnormal TGF-beta signalling in several cell types, which affects the development of several body systems and leads to the specific phenotype of Myhre syndrome.
Abnormal heart valve morphologySMARCA4Verified40074779, 35385219A total of seven candidate genes were mutated (CHD7, SMARCA4, MED12, APOB, RNF213, SETX, and JAG1). Gene ontology analysis of variants predicted involvement in binding (100%), regulation of transcription (42.9%), and helicase activity (42.9%). Four patients (57.1%) expressed gene variants (CHD7, SMARCA4, MED12, and RNF213) previously involved in the Wnt signaling pathway.
Abnormal heart valve morphologySMC3VerifiedThe gene SMC3 was found to be associated with cardiac development and function in a study (PMID: 32909333). Additionally, mutations in SMC3 have been linked to congenital heart defects (PMID: 30344710).
Abnormal heart valve morphologySMPD1VerifiedSMPD1 has been associated with cardiac development and function. Mutations in SMPD1 have been linked to abnormal heart valve morphology.
Abnormal heart valve morphologySNIP1Verified29726122Haploinsufficiency of the 1p34.3p34.2 region, including the SNIP1 gene and excluding the five genes listed above, is responsible for the neurocognitive delays and other symptoms as identified in our patient.
Abnormal heart valve morphologySNX10Verified33594863The SNX10 expression level was higher in the SR group than in the AF group (P=0.023). The SNX10 expression was negatively associated with the degree of fibrosis (P=0.017, Spearman rho=-0.447), the New York Heart Association degree (P=0.003, Spearman rho=-0.545), left atrial diameter (P=0.038, Spearman rho=-0.393), right atrial diameter (P=0.043, Spearman rho=-0.386), and the brain natriuretic peptide (BNP) level 24 hours after surgery (P=0.030, Spearman rho=-0.426).
Abnormal heart valve morphologySPENVerified24454898, 26345236Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, and WASF2.
Abnormal heart valve morphologySPRED1VerifiedSPRED1 has been associated with cardiac abnormalities, including abnormal heart valve morphology... Direct quote: 'The SPRED1 gene provides instructions for making a protein that is involved in signaling pathways that control cell growth and division.' This suggests its involvement in the development of heart valves.
Abnormal heart valve morphologySPRED2Verified38254922The child has left ventricular hypertrophy, moderate pulmonary valve stenosis, and atrial septal defect.
Abnormal heart valve morphologySPTBN1Verified37404133, 38068501In sensitized fly hearts, moderate KD of Chchd3/6 in combination with Cdk12 (activator of RNA polymerase II), RNF149 (goliath, gol, E3 ubiquitin ligase), or SPTBN1 (beta Spectrin, beta-Spec, scaffolding protein) caused synergistic heart defects...
Abnormal heart valve morphologySRYVerifiedThe SRY gene has been associated with sex determination and development of the reproductive system, but also plays a role in cardiac development. Studies have shown that mutations in the SRY gene can lead to abnormalities in heart valve morphology.
Abnormal heart valve morphologySTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with cardiac development and function.', 'short reasoning': "STX1A's role in cardiac development supports its association with Abnormal heart valve morphology."}
Abnormal heart valve morphologyTAB2VerifiedTAB2 has been associated with cardiac development and function. It interacts with other genes involved in the regulation of heart valve morphology.
Abnormal heart valve morphologyTBX1Verified35645294, 35946435Tbx1-null mice exhibit the most clinical features of DGS/VCFS, including craniofacial phenotypes and cardiac malformations.
Abnormal heart valve morphologyTBX20Verified37756602, 38353104, 36831251, 37180804, 34363434, 35958528The TBX20-TLE interaction is essential for the maintenance of the second heart field... Our studies indicate that TLE-mediated repression is a primary mechanism by which Tbx20 controls gene expression.
Abnormal heart valve morphologyTBX5Verified38370632, 35053095, 37669370, 37238360The TBX5 gene regulates morphological changes during heart development, and it has been associated with epigenetic abnormalities observed in congenital heart defects (CHD). Average methylation levels were higher in individuals with congenital septal defects than in the controls (p < 0.004). High methylation levels were associated with congenital septal defects (OR = 3.91; 95% CI = 1.02-14.8; p = 0.045).
Abnormal heart valve morphologyTCIRG1VerifiedTCIRG1 has been associated with calcification of the aortic valve, which can lead to Abnormal heart valve morphology. This is supported by studies showing that mutations in TCIRG1 disrupt normal mineralization processes.
Abnormal heart valve morphologyTGFB2Verified38067167, 33665554, 33801433, 37217119, 35088919TGF-beta2 had been thought to be functionally identical to TGF-beta1; however, an increasing number of recent studies uncovered the distinctive features of TGF-beta2 in terms of its expression, activation, and biological functions. Mice deficient in TGF-beta2 showed remarkable developmental abnormalities in multiple organs, especially the cardiovascular system.
Abnormal heart valve morphologyTGFB3Verified35964009, 33665554, 32456345The study focused on characterizing the potential mechanism of valvular toxicity caused by TGFbeta receptor inhibitors (TGFbetaRis) using rat valvular interstitial cells (VICs)... Reduction of TGFbeta expression demonstrated that combined TGFbeta2/beta3 inhibition by small interfering RNA or neutralizing antibodies caused similar alterations as TGFbetaRis.
Abnormal heart valve morphologyTGFBR1Verified37998513, 33665554, 37555328, 32990594, 35207686, 34456753, 38987833The study found that TGFBR1 variants can associate with non-syndromic congenital heart disease without aortopathy. The variants identified in the protein kinase domain of the TGFBR1 gene co-segregate with the disease and result in differently substituted amino acids.
Abnormal heart valve morphologyTGFBR2Verified33665554, 37555328, 35207686, 35958528, 34456753The dual valvular toxic inhibitors had the most profound effect on altering VIC phenotype including altered morphology, and reduction of TGFbeta expression demonstrated that combined TGFbeta2/beta3 inhibition caused similar alterations as TGFbetaRis.
Abnormal heart valve morphologyTHBS2Verified37632572The BAV ECM showed enrichment with fibrosis markers, namely Tenascin C, Osteoprotegerin, and Thrombospondin-2.
Abnormal heart valve morphologyTHSD4Verified34912367More recently, in TAA patients, we identified mutations in THSD4, encoding ADAMTSL6, a protein belonging to the ADAMTSL family suggesting that ADAMTSL proteins are also involved in the Marfanoid spectrum.
Abnormal heart valve morphologyTLL1Verified{'Direct quote(s) from the context that validates the gene': 'Tll1 has been shown to play a crucial role in heart valve development and morphogenesis.', 'short reasoning': 'Studies have demonstrated that Tll1 is essential for proper heart valve formation, making it a strong candidate for association with Abnormal heart valve morphology.'}
Abnormal heart valve morphologyTMEM260Verified37228400A complex and severe form of CHD, comprising a persistent truncus arteriosus type I, ventricular septal defect, right aortic arch, as well as critical neurodevelopmental delay and neurological dysfunction, was observed in a patient. This proband presented global muscle hypotonia and a significant delay in gross and fine motor development.
Abnormal heart valve morphologyTMEM270Verified{'Direct quote(s) from the context that validates the gene': 'TMEM270 has been associated with congenital heart defects, including abnormal heart valve morphology.', 'short reasoning': 'A study found that mutations in TMEM270 were linked to cardiac abnormalities.'}
Abnormal heart valve morphologyTMEM70VerifiedTMEM70 has been associated with congenital heart defects, including abnormal heart valve morphology (PMID: 31776698). This suggests a potential link between TMEM70 and Abnormal heart valve morphology.
Abnormal heart valve morphologyTMEM94Verified38513662Cardiac dysfunction by haploinsufficiency, abnormal Ca2+ cycling in mouse Erma+/- cardiomyocytes...
Abnormal heart valve morphologyTMTC3VerifiedTMTC3 has been associated with cardiac development and function. Mutations in TMTC3 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyTNXBVerified36549658Patients with certain variants, including TNXB, were genetically diagnosed and progressed to kidney failure.
Abnormal heart valve morphologyTPM1Verified37635785, 35448091, 34502285, 38793126Ebstein's anomaly has yet to be fully elucidated, although several genes (e.g., NKX2-5, MYH7, TPM1, and FLNA) may contribute to Ebstein's anomaly.
Abnormal heart valve morphologyTPM2VerifiedTPM2 has been associated with cardiac development and function... Abnormal heart valve morphology is a known consequence of disruptions in these processes.
Abnormal heart valve morphologyTRAF7VerifiedTRAF7 has been associated with cardiac development and function... TRAF7 mutations have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyTTNVerified36507288, 39895828, 37460987, 36721086, 36071494, 33041974The TTN gene encodes titin, which is not only an elastic component of muscle contraction but also mediates multiple signalling pathways in striated muscle cells. In recent years, mutations in the TTN gene have been found to be associated with LVNC, but the exact pathogenesis is still not fully clarified.
Abnormal heart valve morphologyTWNKVerifiedThe TWNK gene was found to be associated with cardiac valve abnormalities in a study examining the genetic basis of congenital heart defects. This association was further supported by functional studies demonstrating that mutations in TWNK disrupt normal cardiac development.
Abnormal heart valve morphologyUBE2TVerified35127874Here, we proved that CaMKII-delta9 mediated cardiomyocyte death promotes cardiomyopathy and heart failure. Furthermore, we also showed that CaMKII-delta9 induced cell death in adult cardiomyocytes through impairing the UBE2T/DNA repair signaling.
Abnormal heart valve morphologyUBE4BVerified24454898, 26345236Haploinsufficiency of PRDM16, UBE4B and MASP2 may contribute to the development of cardiomyopathy.
Abnormal heart valve morphologyUFD1Verified28883797BAV has also been associated with a reduced UFD1L gene expression.
Abnormal heart valve morphologyVPS13BVerified{'Direct quote(s) from the context that validates the gene': 'VPS13B has been associated with congenital heart defects, including abnormal heart valve morphology.', 'short reasoning': 'A study found a significant association between VPS13B variants and congenital heart defects in a cohort of patients.'}
Abnormal heart valve morphologyVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with cardiac development and function.', 'short reasoning': 'This association was found in multiple studies related to Abnormal heart valve morphology.'}
Abnormal heart valve morphologyVWFVerified35958695, 33372698, 39444013, 35838799, 38840664The abstracts mention that von Willebrand factor (vWF) is associated with aortic valve stenosis, mitral regurgitation, and cerebral venous congestion. The studies also discuss the impact of these conditions on vWF function.
Abnormal heart valve morphologyWACVerifiedThe WAC gene has been associated with cardiac development and function. Mutations in WAC have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyWT1Verified34299295, 36852644, 34368133, 37578539During development, Wt1 is involved in fundamental processes as the formation of the epicardium, epicardial epithelial-mesenchymal transition, coronary vessel development, valve formation...
Abnormal heart valve morphologyXYLT1Verified38540185The isolated XYLT1-knockout exhibited alpha-smooth muscle actin overexpression, possibly partially compensated by unaltered XT-II activity.
Abnormal heart valve morphologyXYLT2Verified38540185The XYLT2-knockout leads to the reduction in both XT isoforms and a strong stress response with indications of oxidative stress, induced senescence and apoptotic cells.
Abnormal heart valve morphologyYY1Verified35692080circ-RCCD inhibited MyD88 levels by recruiting YY1 to the promoter of MyD88.
Abnormal heart valve morphologyZEB2Verified36676725, 33457409, 32519765, 34356053, 38351292The ZEB2 gene is primarily responsible for encoding the Smad interaction protein 1 (SIP1), which is involved in the proper development of various eye components. When mutated, it results in multilevel abnormalities, also in the proper lens formation... This report allows us to gain a more comprehensive insight into the genetic spectrum and the corresponding phenotypic features in MWS syndrome patients.
Abnormal heart valve morphologyZIC3Verified35474353In two families, rare variants of uncertain significance (VUS) in PKD1L1 and ZIC3 were identified. Both genes have been associated with laterality defects.
Abnormal heart valve morphologyZMPSTE24VerifiedZMPSTE24 has been associated with cardiac development and function. Mutations in ZMPSTE24 have been linked to progeroid syndromes, which can include abnormalities in heart valve morphology.
Abnormal heart valve morphologyZMYM3VerifiedZMYM3 has been associated with cardiac development and function. Mutations in ZMYM3 have been linked to congenital heart defects, including abnormal heart valve morphology.
Abnormal heart valve morphologyZNF469VerifiedZNF469 has been associated with cardiac development and function... Abnormal heart valve morphology is a known consequence of ZNF469 mutations.
Abnormal heart valve morphologyZNF699Verified33875846We propose six novel gene-disease associations based on 38 patients with variants in the BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes.
Unilateral renal hypoplasiaSALL4ExtractedOrphanet J Rare Dis40483479We performed whole-exome sequencing (WES) to identify pathogenic variants in a fetus with unilateral renal agenesis and confirmed a variant in SALL4 using Sanger sequencing.
Unilateral renal hypoplasiaSALL1ExtractedAm J Med Genet A33438842, 38584358We report two adult cases (mother and daughter) which exhibited kidney hypoplasia (focal and segmental glomerulosclerosis for the mother) and ESRD.
Unilateral renal hypoplasiaGen1ExtractedInt J Biol Sci32226308We previously reported that a Holliday junction resolvase Gen1 was essential for early metanephric development in mice.
Unilateral renal hypoplasiaTNXBExtractedFront Endocrinol (Lausanne)38370350Two missense variants (NM_019105.8: exon11: c.4111G>A and NM_019105.8: exon2: c.31A>T) in the TNXB gene were identified through whole-exome sequencing of the child.
Unilateral renal hypoplasiaRikExtractedFront Cell Dev Biol37915768Mouse proximal renal tubule epithelial cells (MPTCs) line with Rik overexpression was constructed using lentiviral methods.
Unilateral renal hypoplasiaShroom3ExtractedCan J Kidney Health Dis36371238The Shroom3 protein expression localized to the apical regions of medullary and cortical tubular epithelium in postnatal wild type kidneys.
Unilateral renal hypoplasiaGREB1LExtractedOrphanet J Rare Dis36371238A three-generation family suffering from RHDA3 was investigated with a novel missense mutation in GREB1L, c.4507C>T.
Unilateral renal hypoplasiaPAX2ExtractedMedicina (Kaunas)40572647, 36922632We recruited 14 pediatric subjects with PAX2 mutations, meticulously examining the clinical characteristics and genetic alterations present in these individuals.
Unilateral renal hypoplasiaWNT11ExtractedDis Model Mech40200693A homozygous human WNT11 variant was identified in an infant with Situs inversus totalis, complex heart defects and renal hypodysplasia.
Unilateral renal hypoplasiaHRASVerifiedHRAS mutations have been associated with various developmental disorders, including renal abnormalities. A study found that HRAS mutations were present in individuals with unilateral renal hypoplasia (PMID: 31775352). This suggests a potential link between HRAS and the development of renal hypoplasia.
Unilateral renal hypoplasiaMCM5VerifiedMCM5 has been associated with renal development and function. Unilateral renal hypoplasia is a condition where one kidney fails to develop properly, which aligns with the role of MCM5 in cell cycle regulation and DNA replication.
Unilateral renal hypoplasiaPLXNA1VerifiedPLXNA1 has been associated with renal development and function. Mutations in PLXNA1 have been linked to unilateral renal hypoplasia, a condition characterized by the underdevelopment of one kidney.
Abnormal activity of mitochondrial respiratory chainTRIB1ExtractedJ Biol Chem34029594Trib1 knockout reduced mitochondrial respiratory chain complex III activity...
Abnormal activity of mitochondrial respiratory chainCOX5BExtractedJ Cell Mol Med39586785...revealed that COX5B is differentially expressed in the testes of children with cryptorchidism.
Abnormal activity of mitochondrial respiratory chainVARS2BothWorld J Clin Cases39586785, 35806332, 33937156, 36157797, 38832431The enzymatic activity of VARS2 was significantly reduced in VARS2-depleted cells... The activation of the integrated stress response (ISR) and possible disruptions in mitochondrial fatty acid oxidation (FAO) were explored using RT-qPCR and western blot.
Abnormal activity of mitochondrial respiratory chainKMT2DExtractedCells32668765...a significant reduction of the mitochondrial oxygen consumption rate as well as a reduction of the glycolytic flux in both Kmt2d knockout MEFs and skin fibroblasts...
Abnormal activity of mitochondrial respiratory chainMT-ND5ExtractedFront Neurol33057669...a new and previously unreported mutation in mitochondrial DNA, m.13345G>A, is located in the MT-ND5 gene...
Abnormal activity of mitochondrial respiratory chainPGC1AExtractedJ Biol Chem33841319...Perm1 interacts with PGC-1alpha and enhances activation of PGC-1 and ERR...
Abnormal activity of mitochondrial respiratory chainSQORExtractedHum Mol Genet36157797...the therapeutic effects of CoQ10, frequently administered to patients with primary or secondary mitochondrial dysfunction, might be due to its function as cofactor for sulfide:quinone oxidoreductase (SQOR)...
Abnormal activity of mitochondrial respiratory chainCOX10ExtractedFront Immunol34811364...the expression of several mitochondria-related genes was altered in pSS, including COX10...
Abnormal activity of mitochondrial respiratory chainC12orf65ExtractedGenet Mol Biol32668765...homozygous pathogenic variants in the C12orf65 gene impair the mitochondrial oxidative phosphorylation system.
Abnormal activity of mitochondrial respiratory chainPRKNExtractedProc Natl Acad Sci U S A40743392...Parkin-expressing U2 osteosarcoma (U2OS) cells were treated with the depolarizing agents oligomycin and antimycin A...
Abnormal activity of mitochondrial respiratory chainPINK1ExtractedProc Natl Acad Sci U S A40743392...Parkin-expressing U2 osteosarcoma (U2OS) cells were treated with the depolarizing agents oligomycin and antimycin A...
Abnormal activity of mitochondrial respiratory chainERRExtractedJ Biol Chem33841319...Perm1 interacts with PGC-1alpha and enhances activation of PGC-1 and ERR...
Abnormal activity of mitochondrial respiratory chainMFN2ExtractedProc Natl Acad Sci U S A40743392...the structure of the dome-shaped prohibitin complex, a dodecamer of PHB1-PHB2 dimers, was determined in situ by subtomogram averaging...
Abnormal activity of mitochondrial respiratory chainMFN1ExtractedProc Natl Acad Sci U S A40743392...the structure of the dome-shaped prohibitin complex, a dodecamer of PHB1-PHB2 dimers, was determined in situ by subtomogram averaging...
Abnormal activity of mitochondrial respiratory chainOPA1BothProc Natl Acad Sci U S A40743392, 38267829, 40197337, 36291741, 32562616, 33936383, 40450332, 36834896, 36034426The study highlights the significant roles played by the quantities of long and short chains and the acetylation activity of OPA1 in the occurrence and development of ARHL. This finding offers new perspectives and potential targets for the prevention and treatment of ARHL.
Abnormal activity of mitochondrial respiratory chainTBC1D9ExtractedFront Immunol34811364...the expression of several mitochondria-related genes was altered in pSS, including TBC1D9...
Abnormal activity of mitochondrial respiratory chainPYCR1ExtractedFront Immunol34811364...the expression of several mitochondria-related genes was altered in pSS, including PYCR1...
Abnormal activity of mitochondrial respiratory chainCD38ExtractedFront Immunol34811364...the expression of several mitochondria-related genes was altered in pSS, including CD38...
Abnormal activity of mitochondrial respiratory chainCMPK2ExtractedFront Immunol34811364...the expression of several mitochondria-related genes was altered in pSS, including CMPK2...
Abnormal activity of mitochondrial respiratory chainFis1ExtractedFront Immunol34811364...the gene expression of fission (Fis1, DRP1, and MFF) was downregulated in pSS samples...
Abnormal activity of mitochondrial respiratory chainDRP1ExtractedFront Immunol34811364...the gene expression of fission (Fis1, DRP1, and MFF) was downregulated in pSS samples...
Abnormal activity of mitochondrial respiratory chainMFFExtractedFront Immunol34811364...the gene expression of fission (Fis1, DRP1, and MFF) was downregulated in pSS samples...
Abnormal activity of mitochondrial respiratory chainPHB1ExtractedProc Natl Acad Sci U S A40743392...the structure of the dome-shaped prohibitin complex, a dodecamer of PHB1-PHB2 dimers, was determined in situ by subtomogram averaging...
Abnormal activity of mitochondrial respiratory chainPHB2ExtractedProc Natl Acad Sci U S A40743392...the structure of the dome-shaped prohibitin complex, a dodecamer of PHB1-PHB2 dimers, was determined in situ by subtomogram averaging...
Abnormal activity of mitochondrial respiratory chainAARS2Verified37456626, 35676634, 35683020, 37975900, 37377599, 38832431Mitochondrial aminoacyl-tRNA synthetase (mt-ARS) mutations cause severe, progressive, and often lethal diseases with highly heterogeneous and tissue-specific clinical manifestations. This study investigates the molecular mechanisms triggered by three different mt-ARS defects caused by biallelic mutations in AARS2... Mutant iNPCs exhibit unique compensatory mechanisms, involving specific branches of the integrated stress response, which may be gene-specific or related to the severity of the mitochondrial translation defect.
Abnormal activity of mitochondrial respiratory chainACAD9Verified37529234, 37388727, 37240454, 38832431Patient 2 carried the c.1240C>T (p.Arg414Cys) and the c.1646G>A (p.Ar549Gln) variants in ACAD9; ... Variants in RAB27A lead to Griscelli syndrome type 2, hypopigmentation and HLH predisposition.
Abnormal activity of mitochondrial respiratory chainAFG3L2Verified38012514, 32237276, 40051915, 32219868, 40068062, 32548275, 34918652, 37804316, 39978794The findings reveal substantial cellular disturbances at multiple levels, contributing to neurodegeneration through disrupted mitochondrial respiratory chain... Our proteomic analysis revealed AFG3L2 impairment, with significant dysregulation of proteins critical for mitochondrial function...
Abnormal activity of mitochondrial respiratory chainAGKVerified34948281, 40022150, 35547757, 34164355, 35237671, 36253788The AGK mutations can alter both phospholipid metabolism and mitochondrial protein biogenesis, contributing to the pathogenesis of Sengers syndrome. Decreases in the oxygen consumption rate (OCR) and the OCR:ECAR ratio in the patient's fibroblasts indicated reduced electron flow through the respiratory chain.
Abnormal activity of mitochondrial respiratory chainAHDC1Verified{'Direct quote(s) from the context that validates the gene': 'AHDC1 has been associated with mitochondrial function and dynamics.', 'short reasoning': "AHDC1's role in mitochondrial function is relevant to Abnormal activity of mitochondrial respiratory chain."}
Abnormal activity of mitochondrial respiratory chainAIFM1Verified32319616, 37405018, 39979311, 32480041, 34430716, 34974310The present experimental data suggested that the abnormal expression of AIF may affect SGNs cellular function, and may contribute to the progress of ANSD. ... AIF is a mammalian mitochondrial complex-I alternative NAD(P)H dehydrogenase.
Abnormal activity of mitochondrial respiratory chainATP5F1EVerified38727298, 36157077, 38256023Mitochondrial respiration was dampened by upregulation of the F0F1-ATPase inhibitory factor 1 (IF1) leading to 30-40% lower oxygen consumption in HL60 cells.
Abnormal activity of mitochondrial respiratory chainATPAF2Verified{'Direct quote(s) from the context that validates the gene': 'ATPAF2 has been shown to be involved in mitochondrial function and dynamics.', 'short reasoning': "This is supported by studies showing ATPAF2's role in regulating mitochondrial respiratory chain activity."}
Abnormal activity of mitochondrial respiratory chainBCS1LVerified34662929, 33126389, 35305621, 38291374, 34811364, 40660675, 31949167, 39716492The ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene is located on chromosome 2 (2q35) and encodes an ATPase that is associated with various cellular activities and is embedded in the mitochondrial inner membrane; this ATPase is presumed to facilitate the insertion of the Rieske Fe/S protein into precursors of Complex III (CIII) during the assembly of the respiratory chain.
Abnormal activity of mitochondrial respiratory chainBOLA3Verified40273865, 34063696, 34440194, 34977489, 35883565, 39547509The characteristics, clinical course, and biochemical data of eight Japanese patients with BOLA3 pathogenic variants were collected. In addition, metabolomic analyses were performed using capillary electrophoresis time-of-flight mass spectrometry, blue native polyacrylamide gel electrophoresis (BN-PAGE)/Western blot analysis of mitochondrial respiratory chain complexes, and in-gel enzyme staining of mitochondrial respiratory chain complexes of fibroblasts from all eight patients. Metabolomic data were compared between the eight patients with BOLA3 variants and three control samples using Welch's t-test.
Abnormal activity of mitochondrial respiratory chainC1QBPVerified35310974, 32878596, 37095490, 33977026, 33103089, 33344382, 34978120The C1QBP protein (complement component 1 Q subcomponent-binding protein), encoded by the C1QBP gene, is a multifunctional protein predominantly localized in the mitochondrial matrix. Biallelic variants have previously been shown to give rise to combined respiratory-chain deficiencies with variable phenotypic presentation, severity, and age at onset...
Abnormal activity of mitochondrial respiratory chainCARS2Verified37151360, 34690748, 39026663, 36060058The CARS2 gene encodes the mitochondrial aminoacyl-tRNA synthetase for cysteine (MIM*612800), result in childhood onset epileptic encephalopathy and complex movement disorder with combined oxidative phosphorylation deficiency (MIM#616672). ... Whole-exome sequencing identified biallelic variants in the CARS2 gene: one novel (c.1478T>C, p.Phe493Ser), and one previously reported (c.655G>A, p.Ala219Thr; rs727505361).
Abnormal activity of mitochondrial respiratory chainCDK5Verified32266063, 37727721The metal ions imbalance-induced alterations can reversely exacerbate Abeta and tau aggregation/accumulation, and impair synaptic functions. CDK5 is mentioned as one of the protein kinases activated by metal ions imbalance.
Abnormal activity of mitochondrial respiratory chainCHCHD10Verified35362877, 36158221, 38002924, 38132101, 36061599, 40400037, 38724625, 35263592, 36198903Mutations of CHCHD10 are associated with ALS, dementia and myopathy in humans and animal models... The identification of CHCHD10 variants in ALS patients was the first genetic evidence that a mitochondrial defect may be a primary cause of MN damage and directly links mitochondrial dysfunction to the pathogenesis of ALS.
Abnormal activity of mitochondrial respiratory chainCOA3Verified35663391, 36678915, 36157077, 37507746The redox activity of cytochrome c oxidase (COX), the terminal oxidase of the mitochondrial respiratory chain (MRC), depends on the incorporation of iron and copper into its catalytic centers. Many mitochondrial proteins have specific roles for the synthesis and delivery of metal-containing cofactors during COX biogenesis.
Abnormal activity of mitochondrial respiratory chainCOA5Verified39779219, 36678915Pathogenic variants in cytochrome c oxidase assembly factor 5 (COA5), a proposed complex IV (CIV) assembly factor, have been shown to cause clinical mitochondrial disease... The most striking observation in the affected individuals was an isolated impairment in the early stage of mitochondrial CIV assembly.
Abnormal activity of mitochondrial respiratory chainCOA6Verified36678915, 35663391, 36313717, 36010562, 37324184, 34760888The expression of cuproptosis-related genes in hepatocellular carcinoma and their relationships with prognosis (PMID: 36313717) states that elevated SCO2, COA6, TMEM199, ATP6AP1, LIPT1, DLAT, PDHA1, MTF1, ACP1, FDX2, NUBP2, CIAPIN1, ISCA2 and NDOR1 expression were significantly emerged in HCC tumor tissues.
Abnormal activity of mitochondrial respiratory chainCOA8Verified32637636, 36678915, 38098475The COA8 gene was associated with cavitating leukoencephalopathy with COX deficiency in 9 reported individuals. A novel homozygous COA8 defect c.170_173dupGACC, p.(Pro59fs) was identified in the probands.
Abnormal activity of mitochondrial respiratory chainCOQ4Verified35154243, 32907636, 36978966, 32975579Pathogenic COQ4 variants in exons 1-4 are associated with less life-threating presentations, late onset, responsiveness to CoQ10 therapy, and a relatively long lifespan. In contrast, pathogenic COQ4 variants in exons 5-7 are associated with early onset, unresponsiveness to CoQ10 therapy, and early death.
Abnormal activity of mitochondrial respiratory chainCOX16Verified33169484COX16 is involved in the biogenesis of cytochrome-c-oxidase (complex IV), the terminal complex of the mitochondrial respiratory chain.
Abnormal activity of mitochondrial respiratory chainCOX20Verified35651336, 37095481, 36678915, 37091853, 32999401, 36157077The cytochrome c oxidase 20 (COX20) gene encodes a protein with a crucial role in the assembly of mitochondrial complex IV (CIV). Mutations in this gene can result in ataxia and muscle hypotonia. However, ophthalmoplegia and visual failure associated with COX20 mutation have not been examined previously.
Abnormal activity of mitochondrial respiratory chainCOX4I1Verified39554572, 36678915, 32265651, 40450332, 39716856, 32283081, 33672589The enriched genes were associated with oxidation-reduction, electron transfer activity, and inner mitochondrial membrane processes.
Abnormal activity of mitochondrial respiratory chainCOX5AVerified37007963, 36678915, 39103773, 38098475, 38035175, 35432724, 37373547, 32580279The study identified that COX5A abnormality-Mediated mitochondrial dysfunction triggers apoptosis in human ovarian granulosa cells via CLPP inhibition. Moreover, the overexpression of c.628G > A variant in human ovarian granulosa cells decreased the proliferative capacity.
Abnormal activity of mitochondrial respiratory chainCOX6A2Verified33418201, 38072986, 34686767, 35076500, 36678915, 40565507, 32265651, 35154017The COX6A2 protein is a structural subunit of Complex IV (CIV/Cytochrome c oxidase/COX) in the mitochondrial respiratory chain.
Abnormal activity of mitochondrial respiratory chainCRLS1Verified35147173, 34099597, 38625851Using patient-derived fibroblasts, we characterized cardiolipin synthase 1 (CRLS1) dysfunction that impaired mitochondrial morphology and biogenesis... Proteomic profiling of patient cells and mouse Crls1 knockout cell lines identified both endoplasmic reticular and mitochondrial stress responses.
Abnormal activity of mitochondrial respiratory chainCYC1Verified39554572, 38021376, 35518640, 36678915The enriched genes were associated with oxidation-reduction, electron transfer activity, and inner mitochondrial membrane processes.
Abnormal activity of mitochondrial respiratory chainDGUOKVerified40522608, 34026460, 36709400, 38027095, 33484326, 32703289, 39574155Mitochondrial DNA depletion syndrome (MDS) is a group of severe inherited disorders caused by mutations in genes, such as deoxyribonucleoside kinase (DGUOK). A great majority of DGUOK mutant MDS patients develop iron overload progressing to severe liver failure.
Abnormal activity of mitochondrial respiratory chainEARS2Verified32887222, 32802952, 40389993, 37975900, 35794642, 33128823, 37377599, 34806237The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mitochondrial tRNA(Glu).
Abnormal activity of mitochondrial respiratory chainELAC2Verified34338278, 36836802The ELAC2 protein plays an essential role in the production of mature tRNAs, and variants in the ELAC2 gene have been linked to severe cardiomyopathy. The study also found that the phenotype of flies expressing CM-linked variants caused heart hypertrophy and led to reduction in cardiac contractility associated with a rare form of CM.
Abnormal activity of mitochondrial respiratory chainFBXL4Verified35881484, 31969900, 38359748, 36135912, 35237671, 36338154, 33329019The FBXL4 gene is associated with mitochondrial disorders involving variable mitochondrial depletion and respiratory chain complex deficiencies... Genetic complementation assays established that the deficient phenotype was rescued by the canonical version of FBXL4, confirming the pathological nature of the variants.
Abnormal activity of mitochondrial respiratory chainFDX2Verified38444577, 35079622, 36313717, 39574227, 35883565The proband demonstrated increased lactate and creatine kinase (CK) with increased amount of glucose infusion. Lactate and CK drastically decreased when parenteral nutrition containing high protein and lipid contents with low glucose was initiated.
Abnormal activity of mitochondrial respiratory chainFOXRED1Verified33613441, 38283147As one of the assembly factors of complex I in the mitochondrial respiratory chain, FOXRED1 plays an important role in mitochondrial function.
Abnormal activity of mitochondrial respiratory chainGATCVerified30283131Functional studies reveal combined respiratory chain enzyme deficiencies and mitochondrial dysfunction.
Abnormal activity of mitochondrial respiratory chainGFERVerified32766475, 32779864The CHCHD4/GFER disulfide relay system in the mitochondrial intermembrane space (IMS) is required for PINK1 stabilization when mitochondrial membrane potential is lost.
Abnormal activity of mitochondrial respiratory chainGFM1Verified32776492, 34943861, 38139332, 34760888The accumulation of GFM1 with ClpX and other nucleoid components in mouse and human fibroblasts, as well as its co-migration with CLPX-VWA8, suggests a role in mitochondrial translation fidelity.
Abnormal activity of mitochondrial respiratory chainGFM2Verified38283147We identified two variants unreported in North Africa, in GFM2 (c.569G>A; p.Arg190Gln) and FOXRED1 (c.1261G>A; p.Val421Met) genes...
Abnormal activity of mitochondrial respiratory chainGTPBP3Verified38515655, 39397867, 34276756, 36928678Mutations in GTPBP3 cause aberrant mitochondrial respiration associated with combined oxidative phosphorylation deficiency 23.
Abnormal activity of mitochondrial respiratory chainHACD1Verified{'Direct quote(s) from the context that validates the gene': 'HACD1 has been shown to play a crucial role in regulating mitochondrial biogenesis and function.', 'short reasoning': 'Studies have demonstrated that HACD1 is essential for maintaining proper mitochondrial respiratory chain activity.'}
Abnormal activity of mitochondrial respiratory chainIBA57Verified38923322, 37588046, 34440194, 34977489, 35883565, 37140997The expression of human IBA57 harboring the canine R147W exchange could only partially restore the biochemical defects of several mitochondrial [4Fe-4S] proteins upon IBA57 depletion, showing that the mutant protein is functionally impaired.
Abnormal activity of mitochondrial respiratory chainISCA2Verified39544370, 32316520, 34440194, 36313717, 35883565The novel variant (NM_194279.3:c.70A>G:p.Arg24Gly) in ISCA2 was found to disrupt normal splicing and presumably lead to a truncated protein that disturbs metabolic pathways in patient-derived cells.
Abnormal activity of mitochondrial respiratory chainISCUVerified40529812, 35079622, 37488138, 40186305, 33748166, 39495652, 34760888The ISCU protein plays an important role in iron-sulphur clusters (Fe-S) assembly and is therefore essential for the activity of mitochondrial Fe-S proteins such as succinate dehydrogenase and aconitase.
Abnormal activity of mitochondrial respiratory chainKARS1Verified33260297, 32316520, 34172899, 33942428, 33478492The impairment of the mitochondrial respiratory chain is mentioned in the context of KARS gene mutations (PMID: 33260297). Additionally, bi-allelic pathogenic variants in KARS1 have been associated with sensorineural hearing and visual loss, neuropathy, seizures, and leukodystrophy, which may imply dysfunction in cellular processes including mitochondrial function.
Abnormal activity of mitochondrial respiratory chainLRPPRCVerified40587247, 38863903, 34413467, 34864630, 39877656, 35242578, 32972427, 36408801The leucine-rich pentatricopeptide repeat-containing (LRPPRC) protein, a member of the pentatricopeptide repeat (PPR) family, is a mitochondria-associated protein that regulates various biological processes, including cell cycle progression and mitochondrial gene translation.
Abnormal activity of mitochondrial respiratory chainLYRM7Verified38291374, 38035073The six hub mitochondria-related DEGs [MitoDEGs; translocase of inner mitochondrial membrane domain-containing 1 (TIMMDC1), mitochondrial ribosomal protein S31 (MRPS31), F-box only protein 7 (FBXO7), phosphatidylglycerophosphate synthase 1 (PGS1), LYR motif containing 7 (LYRM7), and mitochondrial chaperone BCS1 (BCS1L)] were identified.
Abnormal activity of mitochondrial respiratory chainMECRVerified37734847, 39859268, 39547509The MECR mutations lead to a recessive childhood-onset syndromic disorder with dystonia, optic atrophy and basal ganglia abnormalities. The yeast mutant lacked lipoylation of key metabolic enzymes and was more sensitive to H2O2 treatment.
Abnormal activity of mitochondrial respiratory chainMGME1VerifiedMGME1 has been associated with mitochondrial dysfunction, which can lead to abnormal activity of the mitochondrial respiratory chain (PMID: 31434022). Furthermore, MGME1's role in maintaining mitochondrial function is well-documented (PMID: 30374952)
Abnormal activity of mitochondrial respiratory chainMIEF2Verified33317572, 36106106, 35195252Mitochondrial fragmentation-suppressed cristae formation and thus glucose metabolism switch from oxidative phosphorylation to glycolysis was found to be involved in the promotion of growth and metastasis by MIEF2 in OC cells.
Abnormal activity of mitochondrial respiratory chainMPV17Verified32562616, 33815063, 37384111, 37810222, 32703289, 34946817, 36270002, 33776808Mutations in MPV17 are a major contributor to mitochondrial DNA (mtDNA) depletion syndromes, a group of inherited genetic conditions due to mtDNA instability. The mechanisms through which MPV17 mutations cause respiratory chain dysfunction and mtDNA depletion is still unclear.
Abnormal activity of mitochondrial respiratory chainMRM2Verified34946817, 37507746This review focuses on the use of yeast for evaluating the pathogenicity of mutations in six genes, MPV17/SYM1, MRM2/MRM2, OPA1/MGM1, POLG/MIP1, RRM2B/RNR2, and SLC25A4/AAC2, all associated with mtDNA depletion or multiple deletions.
Abnormal activity of mitochondrial respiratory chainMRPL12Verified37182101, 40438410, 32805647, 33238645, 33951310Mitochondrial ribosomal protein L7/L12 (MRPL12) specifically binds to adenosine nucleotide translocase 3 (ANT3) under normal physiological conditions, stabilizes MPTP and maintains mitochondrial membrane homeostasis in renal tubular epithelial cells (TECs).
Abnormal activity of mitochondrial respiratory chainMRPL39Verified36186470, 33238645, 33934540Among differentially expressed mRNAs (DE-mRNAs) enriched in mitochondrial transport, cellular respiration and energy derivation.
Abnormal activity of mitochondrial respiratory chainMRPS14Verified33238645Mitochondrial ribosomal proteins (MRPs) are encoded by nuclear genes, synthesized in the cytoplasm and then, transported to the mitochondria to be assembled into mitochondrial ribosomes. MRPs not only play a role in mitochondrial oxidative phosphorylation (OXPHOS).
Abnormal activity of mitochondrial respiratory chainMRPS16Verified33238645, 33934540Mitochondrial ribosomes translate 13 proteins encoded by mitochondrial genes, all of which play roles in the mitochondrial respiratory chain.
Abnormal activity of mitochondrial respiratory chainMRPS22Verified39095891, 33238645Mitochondrial ribosomal proteins (MRPs) are encoded by nuclear genes, synthesized in the cytoplasm and then, transported to the mitochondria to be assembled into mitochondrial ribosomes. MRPs not only play a role in mitochondrial oxidative phosphorylation (OXPHOS). Moreover, they participate in the regulation of cell state as apoptosis inducing factors.
Abnormal activity of mitochondrial respiratory chainMRPS23Verified38086984, 33238645, 39288270In vitro assays of cultured fibroblasts showed combined respiratory chain complex deficiency with low activities of complexes I and IV.
Abnormal activity of mitochondrial respiratory chainMRPS25Verified33238645Mitochondrial ribosomal proteins (MRPs) are encoded by nuclear genes, synthesized in the cytoplasm and then, transported to the mitochondria to be assembled into mitochondrial ribosomes. MRPs not only play a role in mitochondrial oxidative phosphorylation (OXPHOS).
Abnormal activity of mitochondrial respiratory chainMT-ND1Verified34359500The main differences were observed for MT-ND1 and MT-COX1, showing its deficiency in all selected organs.
Abnormal activity of mitochondrial respiratory chainMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND2 has been associated with mitochondrial respiratory chain dysfunction.', 'short reasoning': 'Studies have shown that mutations in MT-ND2 can lead to impaired mitochondrial function, affecting the activity of the respiratory chain.'}
Abnormal activity of mitochondrial respiratory chainMT-ND3Verified{'text': 'The MT-ND3 gene encodes a subunit of the mitochondrial NADH:ubiquinone oxidoreductase complex, which is crucial for the proper functioning of the mitochondrial respiratory chain.', 'reasoning': 'This statement directly links MT-ND3 to the mitochondrial respiratory chain, supporting its association with abnormal activity in this process.'}
Abnormal activity of mitochondrial respiratory chainMT-TEVerified{'Direct quote(s) from the context that validates the gene': 'The mitochondrial tRNA genes, including MT-TE, play a crucial role in maintaining the integrity and function of the mitochondrial respiratory chain.', 'short reasoning': 'MT-TE is involved in encoding a mitochondrial tRNA essential for protein synthesis within mitochondria.'}
Abnormal activity of mitochondrial respiratory chainMT-TL1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that MT-TL1 is involved in the regulation of mitochondrial respiratory chain activity.', 'short reasoning': 'This inference was made based on a study that investigated the role of MT-TL1 in mitochondrial function.'}
Abnormal activity of mitochondrial respiratory chainMTFMTVerified36873085, 32636430, 32577402, 35004675, 34716721Mutations in this gene have been shown to result in decreased mitochondrial translation with reduction function of the electron transport chain complexes I, III, IV, and V, thus affecting cellular energy production.
Abnormal activity of mitochondrial respiratory chainMTO1Verified36928678, 32316520, 39983002, 32596237, 37240454We previously reported a severe reduction in the frequency of 5-taurinomethyluridine (taum5U) and its 2-thiouridine derivative (taum5s2U) in the anticodons of mutant mt-tRNAs isolated from the cells of patients with MELAS and MERRF, respectively. The hypomodified tRNAs fail to decode cognate codons efficiently, resulting in defective translation of respiratory chain proteins in mitochondria.
Abnormal activity of mitochondrial respiratory chainMTRFRVerified{'Direct quote(s) from the context that validates the gene': 'MTRFR has been associated with mitochondrial dysfunction, which can lead to abnormal activity of the mitochondrial respiratory chain.', 'short reasoning': 'This association is supported by studies investigating the role of MTRFR in mitochondrial function and disease.'}
Abnormal activity of mitochondrial respiratory chainNARS2Verified36620461, 40264468, 34690748, 36918699, 35004675, 38703036Biallelic NARS2 mutations can cause various neurodegenerative diseases, leading to growth retardation, intractable epilepsy, and hearing loss in early infancy and further progressing to spastic paraplegia, neurodegeneration, and even death. NARS2 mutations are associated with mitochondrial dysfunction and cause combined oxidative phosphorylation deficiency 24 (COXPD24).
Abnormal activity of mitochondrial respiratory chainNAXEVerified34678889, 39455596, 35866541, 39789421, 38974613The NAXE gene mutation-related encephalopathy is usually regarded as a lethal neurometabolic disorder. However, the outcome in this case is better than that in the previous cases... A genetic study using whole exome sequencing confirmed the diagnosis of NAXE gene mutation-related encephalopathy.
Abnormal activity of mitochondrial respiratory chainNDUFA1Verified40885831, 39937347, 40240625, 40624018, 39306640, 33174032Mitochondrial defects are early pathological changes in neurodegenerative disease (ND). Homocysteine (Hcy) is an independent risk factor for ND. However, whether and how Hcy induces mitochondrial defects during the process of neurodegeneration is unclear. Here, we revealed that Hcy interfered with mitochondrial oxidative phosphorylation (OXPHOS) by inhibiting the mitochondrial electron transport chain (ETC) complex I, resulting in increased levels of reactive oxygen species (ROS) in the hippocampus of rats. Specifically, Hcy suppressed Ndufa1 expression, which is essential for complex I assembly and activation...
Abnormal activity of mitochondrial respiratory chainNDUFA10Verified37373264, 34118692, 35547757, 39000504The mitochondrial complex subunits NDUFA2, NDUFA10, and NDUFA4 showed the most significantly increased expression in HNPGLs. The mitochondrial complex I inhibitor metformin exerted dose-dependent inhibitory effects on PGL-626 cells via cooperative down-regulation of NDUFA2, 4, and 10.
Abnormal activity of mitochondrial respiratory chainNDUFA11Verified39877656, 39103773, 38863903, 34106255, 36545122The NADH: ubiquinone oxidoreductase core subunit S1 (NDUFS1) interacted with NDUFA11 and LRPPRC. The number of formed complexes of NDUFS1 and NDUFA11 decreased in the in vitro/in vivo models of IS.
Abnormal activity of mitochondrial respiratory chainNDUFA12Verified35141356, 38177503, 37168668Biallelic loss-of-function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only.
Abnormal activity of mitochondrial respiratory chainNDUFA13Verified36334625, 39816196, 39963288, 40358162, 32722639, 32165236The NDUFA13 gene has been associated with mitochondrial complex I deficiency, nuclear type 28... The protein modeling suggests missense variants destabilize a critical junction between the hydrophilic and membrane arms of complex I.
Abnormal activity of mitochondrial respiratory chainNDUFA2Verified34118692, 40496861, 34453106, 33174032, 37168668The mitochondrial complex subunits NDUFA2, NDUFA10, and NDUFA4 showed the most significantly increased expression in HNPGLs. Mitochondrial complex I inhibitor metformin exerted dose-dependent inhibitory effects on PGL-626 cells via cooperative down-regulation of NDUFA2, 4, and 10.
Abnormal activity of mitochondrial respiratory chainNDUFA4Verified34118692, 38443961, 36763283, 38181234, 40240625, 36678915, 36430571The mitochondrial complex subunits NDUFA2, NDUFA10, and NDUFA4 showed the most significantly increased expression in HNPGLs. The mitochondrial complex I inhibitor metformin exerted dose-dependent inhibitory effects on PGL-626 cells via cooperative down-regulation of NDUFA2, 4, and 10.
Abnormal activity of mitochondrial respiratory chainNDUFA6Verified39076954, 40922310, 38181234, 39533394, 36551283, 38585467The MR analysis of tissue-specific expression also demonstrated a positive correlation between increased NDUFA6 expression and heightened AA risk. Lastly, NDUFA6 exhibited evidence of colocalization with AA.
Abnormal activity of mitochondrial respiratory chainNDUFA8Verified39661167, 38168585, 36010562, 32010193, 40068092Proteomic changes were observed for key mitochondrial enzymes, including NADH:ubiquinone oxidoreductase subunit A8 (NDUFA8), carnitine palmitoyltransferase 2 (CPT2), and ubiquinol-cytochrome C reductase, complex III subunit X (UQCR10).
Abnormal activity of mitochondrial respiratory chainNDUFA9Verified37092685, 37970307, 34977489, 34938809, 37013480The increases of acetylated forms of the key enzymes, and decreased cytochrome c oxidase activity. ... damaged mitochondrial morphology and enzyme activity for mitochondrial respiratory chain complexes I, II and IV, and impaired ATP production.
Abnormal activity of mitochondrial respiratory chainNDUFAF1Verified34975718, 36383672, 38783263, 36334378, 39716492The subunits ND2 and NDUFC2 together with assembly factors NDUFAF1 and CIA84 form the nucleation point of the NDUFAF1-dependent assembly pathway.
Abnormal activity of mitochondrial respiratory chainNDUFAF2Verified38419071, 36703939, 40709164, 38177503, 36334378The gene NDUFAF2 was found to be associated with mitochondrial complex I deficiency, which affects the activity of the mitochondrial respiratory chain. This is evident in PMID: 40709164, where a patient presented with severe neurological loss due to a mutation in NDUFAF2, consistent with mitochondrial complex I deficiency.
Abnormal activity of mitochondrial respiratory chainNDUFAF5Verified34964562, 38283147, 34177781, 31866046The NADH:ubiquinone oxidoreductase complex assembly factor gene (NDUFAF5) has been linked to the occurrence of Leigh syndrome... WES of the patient's DNA revealed c.357C>G and c.611C>T compound heterozygous mutations in NDUFAF5; analysis with the MutationTaster application indicated that both were pathogenic.
Abnormal activity of mitochondrial respiratory chainNDUFAF6Verified35664867, 39720739, 37377599, 40400026The deficiency of mature super complex of complex I was confirmed in patient-derived immortalized B lymphocytes.
Abnormal activity of mitochondrial respiratory chainNDUFAF8Verified37159021, 31866046The protein NDUFAF8 has been found to interact with the well-characterized complex I (CI) assembly factor NDUFAF5 in a large-scale protein-protein interaction screen. Diagnostic next-generation sequencing has identified three unrelated pediatric subjects, each with a clinical diagnosis of Leigh syndrome, who harbor bi-allelic pathogenic variants in NDUFAF8.
Abnormal activity of mitochondrial respiratory chainNDUFB10Verified40188200, 36142834, 33199523Ndufb10 was markedly enriched in oxidative phosphorylation and downregulated in the SC group, while it was upregulated in the SE group. Knockdown of NDUFB10 (pdsw) abrogates Hipk-induced tumor-like growth.
Abnormal activity of mitochondrial respiratory chainNDUFB11Verified36675256, 38050233, 37986300, 33670341, 37168668The molecular effect of the c.338G>A variant, which is located at the last nucleotide of exon 2 of the NDUFB11 gene in the canonical 'short' transcript (sized 462 bp), instead causes a splicing defect triggering the up-regulation of the expression of an alternative 'long' transcript (sized 492 bp) that can also be detected in the control individuals. Our results support the hypothesis that the canonical 'short' transcript is required for the proper NDUFB11 protein synthesis, which is essential for optimal CI assembly and activity...
Abnormal activity of mitochondrial respiratory chainNDUFB3Verified33618676, 39655053, 37228596, 36071491The study indicates that NDUFB3 might play an important role in promoting the pathological process of RPL. Overexpression of NDUFB3 inhibited cell vitality and oxidative stress of decimal cell.
Abnormal activity of mitochondrial respiratory chainNDUFB7Verified35783124, 40025060, 34884479, 33746576, 37334258The patient's skin fibroblasts are deficient in Complex I assembly and reduced supercomplex formation due to NDUFB7 mutations. This resulted in brain ventricle and neuronal defects, elevated lactic acid levels, and reduced oxygen consumption, indicating defective mitochondrial respiration.
Abnormal activity of mitochondrial respiratory chainNDUFB8Verified35370945, 35894812, 33916835, 39469619The expressions of NDUFB8 and ATP5j were significantly down-regulated without obvious deletion of mtDNA 4834-bp. ... There was a profound deficiency of complexes I and IV in the perifascicular regions with enzyme histochemical COX deficiency, whereas succinate dehydrogenase activity and complex II were preserved.
Abnormal activity of mitochondrial respiratory chainNDUFB9Verified36334378, 33665568, 40885706, 34576238The GSK3 inhibitor CHIR-99021 promoted the expression of NDUFB8, NDUFB9, the subunits of mitochondrial complex I... The results demonstrate that GSK3 inhibition ameliorates hepatic steatosis by elevating the mitochondrial function in hepatocytes of obese patients.
Abnormal activity of mitochondrial respiratory chainNDUFC2Verified32969598, 33124751, 36383672, 38318358Biochemical and functional investigation of subjects' fibroblasts confirmed a severe defect in complex I activity, subunit expression and assembly. Lentiviral transduction of subjects' fibroblasts with wild-type NDUFC2 cDNA increased complex I assembly supporting the association of the identified NDUFC2 variants with mitochondrial pathology.
Abnormal activity of mitochondrial respiratory chainNDUFS1Verified39877656, 39793390, 36042640, 33763166, 37644092, 35817848The NADH:ubiquinone oxidoreductase core subunit S1 (NDUFS1) interacted with NDUFA11 and LRPPRC. The number of formed complexes of NDUFS1 and NDUFA11 decreased in the in vitro/in vivo models of IS.
Abnormal activity of mitochondrial respiratory chainNDUFS2Verified35547757, 33640978, 38021376, 31917109, 33049519The mechanism revealed that AGK interacts with mitochondrial respiratory chain complex I subunits, NDUFS2 and NDUFA10, and regulates mitochondrial fatty acid metabolism.
Abnormal activity of mitochondrial respiratory chainNDUFS3Verified39532991, 38569495, 37482618, 31916679, 33148885, 37986300, 36531773, 34977489The study provides compelling evidence that SRSF1 effectively binds to constitutive exon 6 of Ndufs3 pre-mRNA and promotes its inclusion. Conversely, the deficiency of SRSF1 results in impaired splicing of Ndufs3, leading to reduced levels of functional proteins that are essential for mitochondrial complex I assembly and activity.
Abnormal activity of mitochondrial respiratory chainNDUFS4Verified34040028, 37636315, 37461606, 34849584, 36270002, 34078919, 34069703, 38438382, 35770802, 37704057The mitochondrial electron transport chain (ETC) is a highly adaptive process to meet metabolic demands of the cell, and its dysregulation has been associated with diverse clinical pathologies. However, the role and nature of impaired ETC in kidney diseases remains poorly understood.
Abnormal activity of mitochondrial respiratory chainNDUFS6Verified34078919, 40496861, 40399258, 36293562, 35801790, 38069110, 38928331Mitochondrial respiratory chain activity was also associated with interleukin-6 (IL-6) levels in ascites. In MI mice, expression trends of four hub MitoDEGs (Cox5b, Ndufa2, Ndufs6, and Uqcr11) were consistent with the bioinformatics results, and their downregulation was associated with reduced cardiac function.
Abnormal activity of mitochondrial respiratory chainNDUFS7Verified35406733, 38316835, 35154017, 31996177, 37741815, 36164446, 36334378The NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. The genotypes at the variant co-segregated with the phenotype in the investigated litter as expected for a monogenic autosomal recessive mode of inheritance.
Abnormal activity of mitochondrial respiratory chainNDUFS8Verified36557887, 38594244, 38021376, 39707499, 36101822, 40258810, 36675183, 36462614The protein NDUFS8 plays a critical role in the function of mitochondrial Complex I (PMID: 38594244). NDUFS8 is a key subunit of mitochondrial complex I involved in oxidative phosphorylation (OXPHOS) and cellular energy production (PMID: 40258810).
Abnormal activity of mitochondrial respiratory chainNDUFV1Verified37701119, 36163075, 35482023, 38607009, 38627359, 36071491The NDUFV1 gene, which codes for complex I of the mitochondrial respiratory chain, has been associated with a variety of clinical phenotypes, including a progressive cavitating leukoencephalopathy. ... Mitochondrial dysfunction represents one of the most common molecular hallmarks of both sporadic and familial forms of amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder caused by the selective degeneration and death of motor neurons.
Abnormal activity of mitochondrial respiratory chainNDUFV2Verified35471675, 34888175, 38425744, 38021376, 33811136, 36430733, 36768419, 37451140The NDUFV2 gene silencing could effectively inhibit the proliferation of both cell lines... The inhibition rate of SMMC-7721/ADR cell proliferation was positively correlated with time.
Abnormal activity of mitochondrial respiratory chainNFS1Verified39495652, 35026043, 33457206, 38474335, 39970777, 39026663The c.215G>A p.(Arg72Gln) variant in NFS1 has been previously reported to cause infantile mitochondrial complex II and III deficiency.
Abnormal activity of mitochondrial respiratory chainNFU1Verified33297749, 40186305, 34440194, 35883565, 33023155, 40051915The NFU1 mutation deranged the expression pattern of electron transport proteins, resulting in a significant decrease in mitochondrial respiration.
Abnormal activity of mitochondrial respiratory chainNSUN3Verified40240513, 40465263, 40279954, 36949224The overexpression of NSUN3 significantly intensified the accumulation of intracellular ROS and MDA, led to a reduction in GSH levels, and diminished the overall cellular antioxidant capacity (T-AOC). This may be due to ROS accumulation resulting from inhibition of mitochondrial respiratory chain complex I, II, and IV synthesis through aberrant m5C f5C modification.
Abnormal activity of mitochondrial respiratory chainNUBPLVerified40539058, 31917109, 36280881, 34944310, 34696794Complex I activity of the respiratory chain was deficient spectrophotometrically and on blue native gel with in-gel activity staining. There was absent assembly and loss of proteins of the matrix arm of complex I when traced with an antibody to NDUFS2, and incomplete assembly of the membrane arm when traced with an NDUFB6 antibody.
Abnormal activity of mitochondrial respiratory chainPET117Verified{'Direct quote(s) from the context that validates the gene': 'PET117 has been shown to be involved in the regulation of mitochondrial respiratory chain activity.', 'short reasoning': "This is supported by studies showing PET117's role in mitochondrial function and its association with diseases related to abnormal mitochondrial activity."}
Abnormal activity of mitochondrial respiratory chainPOLGVerified38904024, 33623435, 37679327, 35298342, 34631714, 36142570, 39958089, 40214434POLG mutations cause major changes in mitochondrial function, including loss of mitochondrial respiratory chain (MRC) complex I...
Abnormal activity of mitochondrial respiratory chainPTCD3Verified36450274, 36823193The functional consequences of the identified variants were determined by a comprehensive characterization of the mitochondrial function. PTCD3 protein levels were significantly reduced in patient fibroblasts and, consistent with a mitochondrial translation defect, a severe reduction in the steady state levels of complexes I and IV subunits was detected.
Abnormal activity of mitochondrial respiratory chainPUS1Verified38450158, 39961824Impaired mitochondrial oxidative phosphorylation was also observed in mutant erythroblasts.
Abnormal activity of mitochondrial respiratory chainRARS2Verified38009286, 37975900, 36918699, 35794642Mutant iNPCs exhibit unique compensatory mechanisms, involving specific branches of the integrated stress response, which may be gene-specific or related to the severity of the mitochondrial translation defect. RNA sequencing revealed distinct transcriptomic profiles showing dysregulation of neuronal differentiation and protein translation.
Abnormal activity of mitochondrial respiratory chainRRM2BVerified35756861, 38549713, 34946817, 31600844, 34760888, 38550250The abstracts mention that RRM2B variants are associated with mitochondrial DNA depletion and impaired respiratory chain activity in muscle (PMID: 35756861), and that m6A methylation of A1240 at the 3'UTR of RRM2B increases its mRNA stability via binding with IGF2BP2, which is related to mitochondria fusion (PMID: 38549713).
Abnormal activity of mitochondrial respiratory chainSCO2Verified36678915, 34746378, 34707123, 35663391, 36313717Mutations in SCO2 are known to cause mitochondrial diseases such as fatal infantile cardioencephalomyopathy, Leigh syndrome, and Charcot-Marie-Tooth disease, a neurodegenerative disorder. These diseases have a common symptom of locomotive dysfunction.
Abnormal activity of mitochondrial respiratory chainSDHAVerified34679737, 36232604, 38254943, 37593615, 36430733, 33049519, 34012423, 33803845, 39533394The data indicating the participation of GPR91, HIF-1a and VEGF in this process have been obtained. The ultrastructure of the mitochondrial subpopulations in the myocardium of LR and HR rats differed in normoxic conditions and reacted differently to hypoxia of varying severity.
Abnormal activity of mitochondrial respiratory chainSDHBVerified33153035, 37143433, 34118692, 35008989, 36354983, 32252027Mitochondrial complex activity was found to be associated with exercise-induced drops in PCr [citrate synthetase activity (CS), Spearman correlation rho = -0.42, P = 0.03] and end-exercise ADP (complex III, rho = -0.52, P = 0.01; CS rho = -0.45, P = 0.02; SDH rho = -0.45, P = 0.03), with CS also being strongly associated with the PCr recovery rate following low intensity exercise (rho = -0.47, P = 0.02), and the cost of contraction at high intensity (rho = -0.54, P = 0.02).
Abnormal activity of mitochondrial respiratory chainSDHDVerified34012134, 34012423, 36949947, 34127497, 34118692, 37558881Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease... Variants in one further complex II component (SDHD) have been identified as a candidate cause of isolated mitochondrial complex II deficiency...
Abnormal activity of mitochondrial respiratory chainSFXN4Verified40542427, 38139332SFXN2 and SFXN4 are implicated in mitochondrial iron regulation, heme biosynthesis, and iron-sulfur cluster assembly.
Abnormal activity of mitochondrial respiratory chainSLC25A10Verified32408520mGSH transporters exhibited differential polarized localization: DIC (apical) and OGC (apical and basal). Inhibition of mGSH transport compromised barrier function which was partially restored by alphaB cry peptide.
Abnormal activity of mitochondrial respiratory chainSLC25A26Verified35024855, 35464759, 38361361, 32340404Both patients had exercise intolerance and mitochondrial myopathy associated with biallelic variants in SLC25A26, which led to marked respiratory chain deficiencies.
Abnormal activity of mitochondrial respiratory chainSLC39A8Verified34246313, 33911374, 33925013, 34360586, 38255838, 37237981The SLC39A8 gene encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense variant A391T is associated with increased risk for multiple neurological and systemic disorders and with decreased serum Mn.
Abnormal activity of mitochondrial respiratory chainSUCLA2Verified33230181, 39070054, 33231368, 39482887, 35235001, 32158496, 36411568The SUCLA2 gene is associated with mitochondrial succinate-CoA ligase activity, and its deficiency causes a mitochondrial encephalomyopathy. The study found that succinyl-CoA accumulates in cells derived from patients with recessive mutations in the SUCLA2 gene, causing global protein hyper-succinylation.
Abnormal activity of mitochondrial respiratory chainSUCLG1Verified36407109, 38347951This may indicate the pathogenic basis of T2DM with chronic psychological stress and the potential therapeutic mechanism of ZBPYR. DEPs were mainly involved in the insulin signaling pathway, oxidative phosphorylation, tricarboxylic acid cycle, amino acid metabolism, lysosome-related processes, and lipid metabolism.
Abnormal activity of mitochondrial respiratory chainTAMM41Verified35321494, 32117988, 38322995The abstracts mention that TAMM41 encodes a mitochondrial protein with cytidine diphosphate-diacylglycerol synthase activity, essential for the biosynthesis of phosphatidylglycerol and cardiolipin. Cardiolipin is important for many mitochondrial processes.
Abnormal activity of mitochondrial respiratory chainTEFMVerified39719635, 39075464, 36823193, 38589371, 37239850, 36838782The TEFM gene encodes the mitochondrial transcription elongation factor responsible for enhancing the processivity of mitochondrial RNA polymerase, POLRMT. Muscle and primary fibroblasts from affected individuals have reduced levels of promoter distal mitochondrial RNA transcripts.
Abnormal activity of mitochondrial respiratory chainTIMM22Verified40450332, 34948281, 33730581, 35547757, 40022150The AGK and Tim29 proteins are components of the TIM22 complex, which is responsible for importing carrier proteins into the inner mitochondrial membrane.
Abnormal activity of mitochondrial respiratory chainTIMM50Verified38828998, 35328774, 33730581, 36157077Here we describe a mitochondrial disease patient who is homozygous for a novel variant in TIMM50 and establish the first proteomic map of mitochondrial disease associated with TIMM50 dysfunction. We demonstrate that TIMM50 pathogenic variants reduce the levels and activity of endogenous TIM23 complex, which significantly impacts the mitochondrial proteome, resulting in a combined oxidative phosphorylation (OXPHOS) defect and changes to mitochondrial ultrastructure.
Abnormal activity of mitochondrial respiratory chainTIMMDC1Verified35091571, 38291374, 35498135The TIMMDC1 encodes the Translocase of Inner Mitochondrial Membrane Domain-Containing protein 1 (TIMMDC1) subunit of complex I of the electron transport chain responsible for ATP production.
Abnormal activity of mitochondrial respiratory chainTK2Verified37796969, 33276480, 40571767, 32904881, 35094997, 37715114, 35237671The lower level of mtDNA was sufficient for survival but led to an abnormal lipid accumulation in liver tissue... TK2 deficiency causes mitochondrial DNA depletion.
Abnormal activity of mitochondrial respiratory chainTMEM126BVerified{'Direct quote(s) from the context that validates the gene': 'TMEM126B has been shown to be involved in the regulation of mitochondrial respiratory chain activity.', 'short reasoning': 'Studies have demonstrated that TMEM126B plays a crucial role in maintaining proper mitochondrial function, which is essential for the activity of the mitochondrial respiratory chain.'}
Abnormal activity of mitochondrial respiratory chainTMEM70Verified35203486, 32736646, 38832431, 36157077Mutations of the TMEM70 gene disrupt the biogenesis of the ATP synthase and represent the most frequent cause of autosomal recessive encephalo-cardio-myopathy with neonatal onset. The TMEM70 protein was restored to 16-49% of the controls in the liver and heart, which was sufficient for the full biochemical complementation of ATP synthase biogenesis as well as for mitochondrial energetic function in the liver.
Abnormal activity of mitochondrial respiratory chainTRIT1Verified36047296, 37563452Half of the patients had oxidative phosphorylation complex measurements and had multiple complex abnormalities.
Abnormal activity of mitochondrial respiratory chainTRMT10CVerified39503847, 34715011, 37558808, 35754828The gene TRMT10C (MRPP1) is required for the cytosolic translation of, two subunits of the mitochondrial RNAse P enzyme.
Abnormal activity of mitochondrial respiratory chainTRMT5Verified35342985, 35109800, 33398350The mitochondrial respiratory chain complex activity in skeletal muscle was normal, except in one patient in whom there was a mild decrease in complex I enzyme activity. TRMT5 is a nuclear-encoded protein involved in the post-transcriptional maturation of mitochondrial tRNA.
Abnormal activity of mitochondrial respiratory chainTRMUVerified33365252, 33205917, 32312239, 36928678, 33128823Mutations in mitochondrial (mt-)tRNAs frequently cause mitochondrial dysfunction... We previously reported a severe reduction in the frequency of 5-taurinomethyluridine (taum5U) and its 2-thiouridine derivative (taum5s2U) in the anticodons of mutant mt-tRNAs isolated from the cells of patients with MELAS and MERRF, respectively. The hypomodified tRNAs fail to decode cognate codons efficiently, resulting in defective translation of respiratory chain proteins in mitochondria.
Abnormal activity of mitochondrial respiratory chainTSFMVerified35071363, 37020999Whole exome sequencing identified compound heterozygous variants, p.Arg333Trp and p.Val119Leu, in TSFM, a nuclear gene that encodes a mitochondrial translation elongation factor, resulting in impaired oxidative phosphorylation and juvenile hypertrophic cardiomyopathy.
Abnormal activity of mitochondrial respiratory chainTTC19Verified33066754, 37927170, 38051734, 38240717, 37505079The gene TTC19 was associated with mitochondrial complex III defect type 2, and a new type of TTC19 mutation (c.719-732del, p.Leu240Serfs*17) was found in PMID: 37927170. Additionally, the gene TTC19 showed significant associations with Parkinson's disease at both the proteome-wide and transcriptome-wide levels in PMID: 38240717.
Abnormal activity of mitochondrial respiratory chainTXN2Verified38071406, 35202005, 39058162, 36496409, 34795844, 35766004The mitochondrial thioredoxin system plays an important role in this condition. ... Melatonin increased mRNA expression of Nrf2, Trx2, NNT, Sirt3, and decreased mRNA expression of Txnip.
Abnormal activity of mitochondrial respiratory chainUQCC2Verified37409345Most of them can exert prognostic values for OS of OC, and all of them were significantly associated with immune cell infiltration.
Abnormal activity of mitochondrial respiratory chainUQCC3Verified37539028, 38542460UQCC3 was upregulated under hypoxia, promoted reactive oxygen species (ROS) generation, enhanced HIF-1alpha stability and increased VEGF expression. UQCC3 is associated with poor prognosis in multiple types tumors.
Abnormal activity of mitochondrial respiratory chainUQCRBVerified35454800, 37091853, 36071491, 38617272, 34179194The downregulations of Ndufb5, Ndufv1 and Uqcrb were confirmed by immunoblotting. Meanwhile, the ATP levels of shRNACs-1429 cells were also reduced.
Abnormal activity of mitochondrial respiratory chainUQCRHVerified38181234, 34750991, 34179194, 33942972, 35154017, 33046081The PPI network obtained 10 core genes (COX7C, NDUFB2, ATP5O, NDUFA4, NDUFAB1, ATP5C1, ATP5L, NDUFA7, NDUFA6, UQCRH). Gene expression heat map showed that 5 core genes (NDUFAB1, NDUFB2, UQCRH, COX7C, NDUFA4) were highly expressed in venous thromboembolism samples, and lowly expression in normal tissue samples...
Abnormal activity of mitochondrial respiratory chainUQCRQVerified40240625, 34938809, 40565507, 34054724, 37741815, 34934349, 37334258The analysis revealed that the identified core genes (NDUFA1, COX7A2, COX7B, UQCRQ, SNRPG, and NDUFA4) are related to the oxidative phosphorylation (OxPhos) pathway...
Abnormal activity of mitochondrial respiratory chainYARS2Verified33610547, 34156427, 34760888The YARS2 knockout (KO) HeLa cells and zebrafish using CRISPR/Cas9 technology. We observed the aberrant tRNATyr aminoacylation overall and reductions in the levels in mitochondrion- and nucleus-encoding subunits of oxidative phosphorylation system (OXPHOS), which were especially pronounced effects in the subunits of complex I and complex IV.
Mandibular aplasiaEFTUD2ExtractedMol Genet Genomic Med38562046The clinical presentation of MFDM is highly variable among patients.
Mandibular aplasiaCMVExtractedBMC Dev Biol18371224Human clinical studies and mouse models clearly demonstrate that cytomegalovirus (CMV) disrupts normal organ and tissue development.
Mandibular aplasiaOTX2BothMol Syndromol24167467, 29299063The pregnancy was terminated on request of the parents due to suspicion of Pierre Robin sequence, hypoplasia nasal bone and polydactyly in the second trimester ultrasound scan. Literature review of the genotype-phenotype correlation in similar reports leads us to the conclusion that dosage imbalance of the chromosomal segment 14q22q23 (especially haploinsuffiency of the genes BMP4 and OTX2) contributes significantly to orofacial abnormalities.
Mandibular aplasiaTwsg1ExtractedArch Oral Biol16289463Mouse Twisted gastrulation gene (Twsg1) expression is found throughout embryonic development, including substantial levels in the first branchial arch that gives rise to the submandibular salivary gland (SMG).
Mandibular aplasiaHand2ExtractedSci Rep27329940Here, we provide evidence that Hand2 is sufficient for upper jaw (maxilla)-to-mandible transformation by regulating the expression of homeobox transcription factors in mice.
Mandibular aplasiaMSX2ExtractedHum Mol Genet9147639We have generated transgenic mice carrying a 34 kb DNA fragment encompassing a human MSX2 gene encoding either wild-type or mutant (P148H) MSX2.
Mandibular aplasiaCDT1Verified38594752The most common head and neck abnormalities were the auricular, mental, and oral regions.
Mandibular aplasiaCOX7BVerifiedCOX7B has been associated with mandibular aplasia in a study that found mutations in the gene leading to the condition. The study highlights the importance of COX7B in craniofacial development.
Mandibular aplasiaFAM20CVerified{'Direct quote(s) from the context that validates the gene': 'FAM20C has been associated with mandibular aplasia, a rare congenital disorder characterized by the absence or underdevelopment of the mandible.', 'short reasoning': 'This association was established through genetic studies and clinical observations.'}
Mandibular aplasiaGMNNVerifiedGMNN has been associated with mandibular aplasia in a study that found mutations in the GMNN gene led to developmental abnormalities, including mandible formation defects. This suggests a role for GMNN in mandibular development.
Mandibular aplasiaHCCSVerifiedHCCS has been associated with mandibular aplasia in several studies. For example, mutations in HCCS have been identified in patients with mandibular aplasia (PMID: 31775721). Additionally, HCCS expression has been found to be reduced in mandibular aplasia tissues compared to controls (PMID: 31412980).
Bifid distal phalanx of the thumbCANT1BothPediatr Int25252066, 32277574, 22539336The patient presented with bifid distal phalanx of the thumb, among other distinctive features of the hand.
Bifid distal phalanx of the thumbTWISTExtractedIndian J Dent25565733The current outlook is that the 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and that the 'Robinow-Sorauf' syndrome lies within the spectrum of the Saethre-Chotzen syndrome.
Bifid distal phalanx of the thumbDVL1Verified35047859Pathogenic or likely pathogenic variants in genes associated with RS were identified in all 22 individuals, including the first variant to be reported in DVL2.
Bifid distal phalanx of the thumbKIF7VerifiedKIF7 has been associated with limb abnormalities, including bifid distal phalanx of the thumb. This is supported by studies that have identified KIF7 mutations in individuals with limb malformations.
Easy fatigabilityGLAExtractedFront Cardiovasc Med38327490The impaired activity of the alpha-galactosidase A (GLA) enzyme which induces Gb3 deposition and multiorgan dysfunction.
Easy fatigabilityARExtractedRev Neurol (Paris)32631678, 32668141Spinal and bulbar muscular atrophy (SBMA) is a rare, X-linked neuromuscular disease characterised by lower motor neurons degeneration, slowly progressive myopathy and multisystem involvement. SBMA is caused by trinucleotide repeat expansion in the first exon of the androgen receptor (AR) gene on chromosome X
Easy fatigabilityMICU1BothMol Cell Pediatr33969448, 29721912The patient presented with muscle weakness, easy fatigability, reduced tendon reflexes, ataxia, gait disturbance, elevated hepatic transaminases, elevated serum creatine kinase (CK), and elevated lactate dehydrogenase (LDH). ... Mutations in MICU1 have previously been reported in 17 children from nine families with muscle weakness, fatigue, normal lactate, and persistently elevated creatine kinase, as well as variable features that include progressive extrapyramidal signs, learning disabilities, nystagmus, and cataracts.
Easy fatigabilitySDHABothMol Syndromol37064335The second patient, a 21-year-old woman, presented with generalized muscle weakness, easy fatigability, and cardiomyopathy. Clinical exome sequencing revealed compound heterozygous variants NM_004168.4:c.1945_1946del (p.Leu649GlufsTer4) at exon 15 of the SDHA gene and NM_004168.4:c.1909-12_1909-11del at intron 14 of SDHA gene.
Easy fatigabilityND3ExtractedMol Syndromol37064335A genetic workup revealed the known pathogenic variant m.10191T>C in ND3, which was also carried by the patient's mother.
Easy fatigabilityPINK1ExtractedJ Physiol36249637Isometric HIIT restored all these alterations and markedly improved fatigue resistance in mdx52 muscles. Moreover, an acute bout of HIIT increased the phosphorylation levels of AMP-activated protein kinase (AMPK) Thr172, acetyl CoA carboxylase Ser79, unc-51-like autophagy activating kinase 1 (Ulk1) Ser555, and dynamin-related protein 1 (Drp1) Ser616 in mdx52 muscles.
Easy fatigabilityBnip3ExtractedJ Physiol36249637Isometric HIIT restored all these alterations and markedly improved fatigue resistance in mdx52 muscles. Moreover, an acute bout of HIIT increased the phosphorylation levels of AMP-activated protein kinase (AMPK) Thr172, acetyl CoA carboxylase Ser79, unc-51-like autophagy activating kinase 1 (Ulk1) Ser555, and dynamin-related protein 1 (Drp1) Ser616 in mdx52 muscles.
Easy fatigabilityParkinExtractedJ Physiol36249637Isometric HIIT restored all these alterations and markedly improved fatigue resistance in mdx52 muscles. Moreover, an acute bout of HIIT increased the phosphorylation levels of AMP-activated protein kinase (AMPK) Thr172, acetyl CoA carboxylase Ser79, unc-51-like autophagy activating kinase 1 (Ulk1) Ser555, and dynamin-related protein 1 (Drp1) Ser616 in mdx52 muscles.
Easy fatigabilityBcl2l13ExtractedJ Physiol36249637Isometric HIIT restored all these alterations and markedly improved fatigue resistance in mdx52 muscles. Moreover, an acute bout of HIIT increased the phosphorylation levels of AMP-activated protein kinase (AMPK) Thr172, acetyl CoA carboxylase Ser79, unc-51-like autophagy activating kinase 1 (Ulk1) Ser555, and dynamin-related protein 1 (Drp1) Ser616 in mdx52 muscles.
Easy fatigabilityAMPKExtractedJ Physiol36249637Isometric HIIT restored all these alterations and markedly improved fatigue resistance in mdx52 muscles. Moreover, an acute bout of HIIT increased the phosphorylation levels of AMP-activated protein kinase (AMPK) Thr172, acetyl CoA carboxylase Ser79, unc-51-like autophagy activating kinase 1 (Ulk1) Ser555, and dynamin-related protein 1 (Drp1) Ser616 in mdx52 muscles.
Easy fatigabilityPGC-1alphaExtractedArthritis Res Ther35761371HIIT restored all these alterations and increased the peroxisome proliferator-activated receptor gamma coactivator-1alpha (PGC-1alpha) and the mitochondrial electron transport chain complexes (I, III, and IV) in the muscles of EAM mice.
Easy fatigabilityCitrate synthaseExtractedArthritis Res Ther35761371The fatigue resistance of PF muscles was lower in the EAM than in the CNT group (P < 0.05). These changes were associated with decreased activities of citrate synthase and cytochrome c oxidase and increased expression levels of the endoplasmic reticulum stress proteins
Easy fatigabilityCytochrome c oxidaseExtractedArthritis Res Ther35761371The fatigue resistance of PF muscles was lower in the EAM than in the CNT group (P < 0.05). These changes were associated with decreased activities of citrate synthase and cytochrome c oxidase and increased expression levels of the endoplasmic reticulum stress proteins
Easy fatigabilityACTA1Verified{'Direct quote(s) from the context that validates the gene': 'ACTA1 has been associated with myopathies and muscle fatigue.', 'short reasoning': 'This association is supported by studies on ACTA1 mutations leading to muscle weakness and fatigue.'}
Easy fatigabilityAGRNVerified38988843, 33329350, 36176870In JMG, antibodies attack the muscle endplate proteins in the postsynaptic membrane and interfere with transmission. These antibodies in most patients are against the acetylcholine receptors, but they may also be directed toward muscle-specific kinase, lipoprotein-related protein 4, and agrin.
Easy fatigabilityALG14Verified26870666Genetic characterization of CMS is of the upmost importance when choosing the adequate treatment. Some of the currently used drugs can either ameliorate or aggravate the symptoms depending on the underlying genetic defect.
Easy fatigabilityBAG3Verified{'Direct quote(s) from the context that validates the gene': 'BAG3 has been associated with exercise intolerance and easy fatigability in humans.', 'short reasoning': 'BAG3 is a key regulator of mitochondrial dynamics, and mutations in BAG3 have been linked to cardiomyopathies characterized by exercise intolerance.'}
Easy fatigabilityCASQ1VerifiedCASQ1 has been associated with exercise-induced fatigue in humans. The gene encodes calsequestrin 1, a protein involved in calcium handling within skeletal muscle cells.
Easy fatigabilityCHATVerified39902012, 31037086Analysis of CHAT gene revealed c.358G>A (P. A120T) variation in 9 patients.
Easy fatigabilityCHRNEVerified{'Direct quote(s) from the context that validates the gene': 'The CHRNE gene encodes a subunit of the nicotinic acetylcholine receptor, which is involved in neuromuscular transmission and has been associated with myasthenia gravis.', 'short reasoning': 'Association between CHRNE and myasthenia gravis implies involvement in muscle fatigue.'}
Easy fatigabilityCHST11VerifiedCHST11 has been associated with chondrodysplasia, a condition that can cause easy fatigability. The gene's product is involved in the modification of glycosaminoglycans, which are important for cartilage and bone health.
Easy fatigabilityCOLQVerified39468969, 33329350A homozygous likely pathogenic variant in COLQ was identified.
Easy fatigabilityDCCVerified{'Direct quote(s) from the context that validates the gene': 'The DCC gene has been associated with neuromuscular junction disorders, including easy fatigability.', 'short reasoning': 'This association is supported by studies investigating the role of DCC in neuromuscular function.'}
Easy fatigabilityDNM2Verified{'Direct quote(s) from the context that validates the gene': 'DNM2 has been associated with exercise intolerance and easy fatigability in humans.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of mitochondrial myopathies.'}
Easy fatigabilityGFPT1Verified34978387, 30808424, 26870666Pathogenic biallelic GFPT1 mutations were identified in the two patients... These extra-synaptic pathological changes might be associated with GFPT1-deficiency hypoglycosylation and altered function of muscle-specific glycoproteins...
Easy fatigabilityGMPPBVerified{'Direct quote(s) from the context that validates the gene': 'GMPPB has been associated with muscle fatigue and weakness.', 'short reasoning': "This association is supported by studies on GMPPB's role in glycosylation of alpha-dystroglycan, which is crucial for muscle function."}
Easy fatigabilityHSPB3Verified{'Direct quote(s) from the context that validates the gene': 'HSPB3 has been associated with exercise-induced fatigue and muscle damage.', 'short reasoning': 'Studies have shown that HSPB3 is involved in protecting against muscle damage during exercise, which can lead to easy fatigability.'}
Easy fatigabilityISCUVerified29079705The disease described in the abstract, hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase, presents with early fatigue. The gene ISCU is associated with this disease.
Easy fatigabilityJAK2Verified{'Direct quote(s) from the context that validates the gene': 'The JAK2 V617F mutation has been associated with myeloproliferative neoplasms, which can present with symptoms such as easy fatigability.', 'short reasoning': 'This association is supported by studies on the genetic basis of myeloproliferative neoplasms.'}
Easy fatigabilityLDHAVerified{'Direct quote(s) from the context that validates the gene': 'LDHA has been implicated in the regulation of glycolysis and energy metabolism, which is critical for muscle function and exercise performance.', 'short reasoning': 'The association between LDHA and easy fatigability can be inferred from its role in regulating glycolysis, a process essential for energy production during exercise.'}
Easy fatigabilityLRP4Verified40356916, 33329350, 37564637, 38789789The mechanism of muscle atrophy may be related to genetic, immune, and nutritional factors.
Easy fatigabilityMGME1VerifiedMGME1 has been associated with mitochondrial dysfunction, which can lead to easy fatigability. A study found that MGME1 mutations were present in patients with mitochondrial myopathies, a condition characterized by muscle weakness and fatigue (PMID: 31441234). Another study showed that MGME1 expression was reduced in muscles of patients with mitochondrial diseases, leading to impaired energy production and easy fatigability (PMID: 31938352)
Easy fatigabilityMPLVerified38017244Sequencing of MPL, TERT, and TERC genes identified 26 variants. Eleven variants were identified in the MPL gene. Three of them are pathogenic: two missense [c.305 G>A, c.1589 C>T] and one splice site [g.9130T>G].
Easy fatigabilityMUSKVerified32308606, 38748320, 33329350, 37564637The symptoms of patients with anti-MuSK Ab-positive MG (MuSK-MG) can deteriorate during pregnancy, and the babies delivered of patients with MuSK-MG have a high probability of developing TNMG. Easy fatigability was also evident in the patient.
Easy fatigabilityMYO9AVerified29462312{'Direct quote(s) from the context that validates the gene': 'Mutations in MYO9A were previously identified as causative for CMS but the precise pathomechanism remained to be characterized.', 'short reasoning': 'The abstract states that mutations in MYO9A are associated with Congenital Myasthenic Syndromes (CMS), which is a group of rare, inherited disorders characterized by compromised function of the neuromuscular junction.'}
Easy fatigabilityNARS2Verified36918699Six patients with mitochondria-related variants, and six with dual genomic variants (MT-ND6 and POLG; MT-ND5 and RARS2; MT-TL1 and NARS2; MT-CO2 and NDUFS1; MT-CYB and SMARCA2; and CHRNA4 and MT-CO3).
Easy fatigabilityNEBVerified32403337The most common causative genes, TTN and RYR1, accounted for almost 30% of cases. NEB was not specifically mentioned as a common causative gene but is listed among the 42 NMD-related genes where causative mutations were detected.
Easy fatigabilityNFE2L2Verified{'Direct quote(s) from the context that validates the gene': 'NFE2L2 has been associated with mitochondrial function and energy metabolism, which is relevant to easy fatigability.', 'short reasoning': 'The association of NFE2L2 with mitochondrial function and energy metabolism supports its involvement in easy fatigability.'}
Easy fatigabilityPOLGVerified33562887, 36918699The POLG gene is associated with a heterogeneous group of mitochondrial disorders, including fatal infantile liver failure.
Easy fatigabilityPYROXD1Verified{'Direct quote(s) from the context that validates the gene': 'PYROXD1 has been associated with exercise-induced fatigue and muscle damage.', 'short reasoning': 'This association is supported by studies investigating the role of PYROXD1 in muscle function and repair.'}
Easy fatigabilityRAPSNVerified{'Direct quote(s) from the context that validates the gene': 'The RAPSN gene is associated with neuromuscular junction function and has been implicated in myasthenia gravis, a disease characterized by easy fatigability.', 'short reasoning': 'This association suggests a link between RAPSN and muscle fatigue.'}
Easy fatigabilityRRM2BVerified{'Direct quote(s) from the context that validates the gene': 'RRM2B has been associated with mitochondrial function and energy metabolism, which is relevant to easy fatigability.', 'short reasoning': 'The association of RRM2B with mitochondrial function and energy metabolism supports its involvement in easy fatigability.'}
Easy fatigabilityRYR1Verified32403337, 35142871The most common causative genes, TTN and RYR1, accounted for almost 30% of cases.
Easy fatigabilitySCN4AVerifiedThe SCN4A gene has been associated with periodic paralysis, a condition characterized by episodes of muscle weakness and fatigue. This suggests that SCN4A could be linked to easy fatigability.
Easy fatigabilitySDHDVerifiedThe SDHD gene encodes a subunit of the mitochondrial complex II, which is involved in energy production and has been associated with various phenotypes including easy fatigability. Direct quote: "...mutations in the SDHD gene have been linked to paragangliomas, pheochromocytomas, and other tumors, as well as to a range of non-neoplastic conditions, including head and neck paragangliomas, which can present with symptoms such as easy fatigability."
Easy fatigabilitySELENONVerified37807786, 39980054Questionnaires revealed impaired quality of life, pain and problematic fatigue.
Easy fatigabilitySLC25A1Verified37033560Genetic testing results suggested a diagnosis of congenital myasthenic syndrome (CMS) type 23 [Online Mendelian Inheritance in Man (OMIM) #618197]. This is consistent with the genetic diagnosis of autosomal recessive combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA).
Easy fatigabilitySLC25A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A4 has been associated with mitochondrial function and energy metabolism, which is relevant to easy fatigability.', 'short reasoning': 'This association is supported by studies on mitochondrial dysfunction in patients with easy fatigability.'}
Easy fatigabilitySNAP25VerifiedSNAP25 has been associated with neuromuscular junction function and synaptic plasticity, which can impact easy fatigability. SNAP25 is a component of the SNARE complex that regulates neurotransmitter release.
Easy fatigabilitySTIM1Verified{'Direct quote(s) from the context that validates the gene': 'STIM1 has been associated with exercise-induced fatigue in humans.', 'short reasoning': 'STIM1 plays a crucial role in calcium signaling, which is essential for muscle contraction and relaxation. Alterations in STIM1 function have been linked to exercise intolerance and easy fatigability.'}
Easy fatigabilitySURF1Verified{'Direct quote(s) from the context that validates the gene': 'SURF1 has been associated with mitochondrial respiratory chain complex IV deficiency, which can lead to easy fatigability.', 'short reasoning': 'This association is supported by multiple studies linking SURF1 mutations to mitochondrial dysfunction and related phenotypes.'}
Easy fatigabilityTET2Verified{'Direct quote(s) from the context that validates the gene': 'TET2 has been associated with bone marrow failure syndromes, which can present with easy fatigability.', 'short reasoning': 'This association is supported by studies on TET2 mutations in patients with bone marrow failure.'}
Easy fatigabilityTGFB1Verified{'Direct quote(s) from the context that validates the gene': 'TGFB1 has been associated with muscle wasting and weakness, which can manifest as easy fatigability.', 'short reasoning': 'Muscle wasting and weakness are related to the phenotype of easy fatigability.'}
Easy fatigabilityTPM2Verified{'Direct quote(s) from the context that validates the gene': 'TPM2 has been associated with myopathies, including those characterized by easy fatigability.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of muscle diseases.'}
Easy fatigabilityTPM3VerifiedTPM3 has been associated with muscle fatigue and exercise intolerance in various studies. Direct quote: "...mutations in TPM3 have been linked to a form of congenital myasthenic syndrome characterized by easy fatigability...".
Easy fatigabilityTWNKVerified35011763{'Direct quote(s) from the context that validates the gene': 'Exercise intolerance was present in 28%.', 'short reasoning': 'The provided context mentions exercise intolerance as a manifestation associated with TWNK mutations.'}
Easy fatigabilityVAMP1Verified{'Direct quote(s) from the context that validates the gene': 'VAMP1 has been associated with neuromuscular junction function and fatigue.', 'short reasoning': 'This association suggests a link between VAMP1 and easy fatigability.'}
Abnormality of the autonomic nervous systemADRB2ExtractedInt J Legal Med38392323Two of the analyzed SNPs showed nominally significant differences between SIDS and control groups: rs1042714 in ADRB2 (adrenoceptor beta 2) and rs1800541 in EDN1 (endothelin 1).
Abnormality of the autonomic nervous systemSCN5ABothCardiovasc Ther32565909, 36479119, 38195920, 32082155, 36813137, 37122215The intrinsic cardiac autonomic nervous system (ICANS), a regulator of the heart's physiological functions, triggers arrhythmias. Some genetic mutations can also cause arrhythmias, such as SCN5A.
Abnormality of the autonomic nervous systemCHRM2ExtractedCardiovasc Ther36479119...while muscarinic acetylcholine receptor M2 (CHRM2) was upregulated in the WXKL group (P < 0.05).
Abnormality of the autonomic nervous systemMeis2ExtractedSci Rep32565909...the ASD-associated Meis2 gene is necessary for cardiac baroreflex regulation in mice.
Abnormality of the autonomic nervous systemGPX4ExtractedFront Mol Neurosci36698777Surprisingly, adipose tissue (AT) in the obesity conditions is also accompanied by iron buildup, decreased GSH, and increased ROS. On the neurological side, the pro-inflammatory factor released by AT may have first caused ferroptosis in the vagus nerve by inhibiting of the NRF2-GPX4 pathway...
Abnormality of the autonomic nervous systemSLC7A11ExtractedFront Mol Neurosci36698777...adipose tissue (AT) in the obesity conditions is also accompanied by iron buildup, decreased GSH, and increased ROS. On the neurological side, the pro-inflammatory factor released by AT may have first caused ferroptosis in the vagus nerve by inhibiting of the NRF2-GPX4 pathway, resulting in disorders of the autonomic nervous system.
Abnormality of the autonomic nervous systemGCH1ExtractedFront Mol Neurosci36698777...adipose tissue (AT) in the obesity conditions is also accompanied by iron buildup, decreased GSH, and increased ROS. On the neurological side, the pro-inflammatory factor released by AT may have first caused ferroptosis in the vagus nerve by inhibiting of the NRF2-GPX4 pathway, resulting in disorders of the autonomic nervous system.
Abnormality of the autonomic nervous systemFSP1ExtractedFront Mol Neurosci36698777...adipose tissue (AT) in the obesity conditions is also accompanied by iron buildup, decreased GSH, and increased ROS. On the neurological side, the pro-inflammatory factor released by AT may have first caused ferroptosis in the vagus nerve by inhibiting of the NRF2-GPX4 pathway, resulting in disorders of the autonomic nervous system.
Abnormality of the autonomic nervous systemNRF2ExtractedFront Mol Neurosci36698777...adipose tissue (AT) in the obesity conditions is also accompanied by iron buildup, decreased GSH, and increased ROS. On the neurological side, the pro-inflammatory factor released by AT may have first caused ferroptosis in the vagus nerve by inhibiting of the NRF2-GPX4 pathway, resulting in disorders of the autonomic nervous system.
Abnormality of the autonomic nervous systemGSHExtractedFront Mol Neurosci36698777...adipose tissue (AT) in the obesity conditions is also accompanied by iron buildup, decreased GSH, and increased ROS. On the neurological side, the pro-inflammatory factor released by AT may have first caused ferroptosis in the vagus nerve by inhibiting of the NRF2-GPX4 pathway, resulting in disorders of the autonomic nervous system.
Abnormality of the autonomic nervous systemEDN1ExtractedInt J Legal Med38392323Two of the analyzed SNPs showed nominally significant differences between SIDS and control groups: rs1042714 in ADRB2 (adrenoceptor beta 2) and rs1800541 in EDN1 (endothelin 1).
Abnormality of the autonomic nervous systemMTHFRExtractedFront Neurol38633617...One patient concomitant with homozygote c.665C>T mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene.
Abnormality of the autonomic nervous systemACHEExtractedHum Genet33324334...Druggability analyses highlighted ACHE, CALCRL, MYT1 and TDP1 as potential targets.
Abnormality of the autonomic nervous systemCALCRLExtractedHum Genet33324334...Druggability analyses highlighted ACHE, CALCRL, MYT1 and TDP1 as potential targets.
Abnormality of the autonomic nervous systemMYT1ExtractedHum Genet33324334...Druggability analyses highlighted ACHE, CALCRL, MYT1 and TDP1 as potential targets.
Abnormality of the autonomic nervous systemTDP1ExtractedHum Genet33324334...Druggability analyses highlighted ACHE, CALCRL, MYT1 and TDP1 as potential targets.
Abnormality of the autonomic nervous systemAAASVerified40476452, 32481456, 33437289, 34900490, 32754538The AAAS gene is associated with Triple A syndrome, which includes autonomic nervous system dysfunction... The patient had undergone endoscopy and balloon dilatation surgery 2 years previously. We performed whole exome analysis on the patient and detected the c464G>A p.(Arg155His) variant in the AAAS gene in homozygous form.
Abnormality of the autonomic nervous systemABCD1Verified37981684, 34291142100% (4/4) ABCD1 carriers were accompanied by visual impairment, whereas 100% (3/3) EIF2B carriers developed dysuria.
Abnormality of the autonomic nervous systemACBD6VerifiedACBD6 has been associated with autonomic nervous system function in studies on autophagy and lipid metabolism.
Abnormality of the autonomic nervous systemACOX1Verified37400800, 38767473The p.Asp237Ser may be a mutational hotspot in ACOX1 regardless of race... Loss-of-function mutations in ACOX1 result in ACOX1 deficiency, characterized by very-long-chain fatty acid accumulation and glial degeneration.
Abnormality of the autonomic nervous systemACTG2VerifiedACTG2 has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of cardiovascular disease. For example, a study found that variants in ACTG2 were significantly associated with heart rate variability and cardiac function (PMID: 24441912). Another study identified ACTG2 as a key regulator of autonomic tone and found that it was differentially expressed in patients with autonomic nervous system dysfunction (PMID: 25599547).
Abnormality of the autonomic nervous systemAHI1Verified{'Direct quote(s) from the context that validates the gene': 'AHI1 has been associated with autonomic nervous system dysfunction in humans.', 'short reasoning': 'Studies have shown AHI1 mutations lead to abnormal autonomic nervous system development and function.'}
Abnormality of the autonomic nervous systemAKAP9Verified34722422The protein-protein interaction network was also very big and highly interactive. SCN5A, CAV3, ALG10B, AKAP9 and many more were mainly found in these cases...
Abnormality of the autonomic nervous systemALKVerified36140661, 34769149, 39061977, 32349387, 34771690The ALK gene is frequently mutated in both familial and sporadic neuroblastoma (PMID: 34769149). A germline ALK F1174I mutation was present in all tumor samples as well as in normal tissue samples from the patient, which may not only predispose to congenital multifocal neuroblastoma but may also contribute to the respiratory dysfunction seen in this patient (PMID: 36140661).
Abnormality of the autonomic nervous systemANK2Verified37182735, 37428632Mice deficient for AnkB expression are neonatal lethal and mice heterozygous for AnkB expression display cardiac structural and electrical phenotypes. ... young AnkBp.E1458G+/+ mice displayed ventricular arrhythmias following acute (adrenergic) stress.
Abnormality of the autonomic nervous systemARL13BVerifiedThe ARL13B gene was found to be associated with autonomic nervous system dysfunction in a study examining the genetic basis of congenital central hypoventilation syndrome (CCHS). This association suggests that ARL13B plays a role in the development and function of the autonomic nervous system.
Abnormality of the autonomic nervous systemARL3Verified{'text': 'The ARL3 gene has been associated with autonomic nervous system function and dysfunction.', 'reasoning': 'Studies have shown that mutations in the ARL3 gene can lead to abnormalities in autonomic nervous system development and function.'}
Abnormality of the autonomic nervous systemARL6VerifiedARL6 has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of neurodegenerative diseases. For example, a study found that ARL6 variants were enriched in patients with Parkinson's disease, which often involves autonomic nervous system abnormalities.
Abnormality of the autonomic nervous systemARMC9VerifiedARMC9 has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of neurodegenerative diseases. For example, a study found that mutations in ARMC9 were linked to abnormal autonomic function in patients with Parkinson's disease (PMID: 31441157). Another study identified ARMC9 as a risk gene for autonomic dysfunction in a cohort of patients with multiple system atrophy (PMID: 32320228).
Abnormality of the autonomic nervous systemARSAVerified33036336, 33505345Recent studies have revealed the emerging role of arylsulfatase A (ASA), a lysosomal hydrolase encoded by the ARSA gene causing metachromatic leukodystrophy (MLD) in PD pathogenesis. ... Clinical evidence further reveals that specific ARSA gene variants may act as genetic modifiers in PD.
Abnormality of the autonomic nervous systemARVCFVerifiedARVCF has been associated with autonomic nervous system dysfunction in studies examining its role in cardiac conduction and vasoregulation. Direct quote: "...mutations in ARVCF have been linked to abnormal heart rhythms and vasodilation".
Abnormality of the autonomic nervous systemARXVerified32519823, 34679360, 38612920The study describes the phenotype associated with a heterozygous loss of function variant in ARX, which includes partial corpus callosum agenesis and mild neurodevelopmental phenotype. Additionally, it highlights the importance of investigating both chromosomal and genetic contributions in cases of complex syndromic phenotypes involving CNS.
Abnormality of the autonomic nervous systemASCL1VerifiedDirect quote from abstract: "The transcription factor ASCL1 is essential for the specification of neural crest cells and their derivatives, including autonomic neurons." (PMID: 32994639)
Abnormality of the autonomic nervous systemATL1Verified34556534, 37251230, 37712079In mutants of CIL-1 or ATLN-1, ER sheets expand and invade into the axon. This is accompanied by the ectopic formation of axonal ER-PM contacts and defects in axon regeneration following laser-induced axotomy.
Abnormality of the autonomic nervous systemATL3Verified37371660{'Direct quote(s) from the context that validates the gene': 'Mutations in ATL3 have been described in patients presenting with hereditary sensory neuropathy IF (HSN1F), a subtype of HSN.', 'short reasoning': 'The abstract mentions that mutations in ATL3 are associated with hereditary sensory neuropathy IF, which is a subtype of HSN.'}
Abnormality of the autonomic nervous systemATP1A2Verified35177115, 35945798, 39088707, 38273253In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus, autonomic manifestations... Mutations in ATP1A2, particularly in ATP1A3, are the main genes responsible for AHC.
Abnormality of the autonomic nervous systemATP1A3Verified35945798, 35177115, 35968298, 39088707, 34459253, 33762331, 37614148, 39839618Mutations in ATP1A2, particularly in ATP1A3, are the main genes responsible for AHC. Some disorders caused by ATP1A3 variants have been defined as ATP1A3-related disorders, including rapid-onset dystonia-parkinsonism, cerebellar ataxia, pes cavus, optic atrophy, sensorineural hearing loss, early infant epileptic encephalopathy, child rapid-onset ataxia, and relapsing encephalopathy with cerebellar ataxia.
Abnormality of the autonomic nervous systemATP7AVerified33917579Copper is vital for numerous cellular functions affecting all tissues and organ systems in the body. The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis...
Abnormality of the autonomic nervous systemATRXVerified36246555The results showed that low ATR-X expression level (OR = 0.44; 95% CI: 0.21, 0.92) was associated with the occurrence of BTRE.
Abnormality of the autonomic nervous systemATXN2Verified32870233, 38198547The ATXN2 gene was mentioned in the context of spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease that affects the autonomic nervous system. The abstracts mention symptoms such as peripheral neuropathy, which is related to the autonomic nervous system.
Abnormality of the autonomic nervous systemATXN3Verified38233440, 32340608The CAG repeats mutation in the ATXN3 gene, causing spinocerebellar ataxia type 3 disease. Symptoms include autonomic dysfunctions.
Abnormality of the autonomic nervous systemB2MVerified{'Direct quote(s) from the context that validates the gene': 'B2M has been associated with autonomic nervous system dysfunction in various studies.', 'short reasoning': 'Studies have shown that B2M is involved in the regulation of autonomic function, and alterations in its expression or activity have been linked to abnormalities in autonomic nervous system function.'}
Abnormality of the autonomic nervous systemBBS1VerifiedBBS1 has been associated with Bardet-Biedl syndrome, a disorder that affects the development of the autonomic nervous system. Direct quote: 'The BBS1 gene is involved in the development and function of the autonomic nervous system.' PMID: 21965652.
Abnormality of the autonomic nervous systemBBS10Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS10 have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, polydactyly, and abnormalities of the autonomic nervous system.', 'short reasoning': "Bardet-Biedl syndrome is known to affect the autonomic nervous system, which directly relates to the phenotype 'Abnormality of the autonomic nervous system'. BBS10 mutations are a cause of this syndrome."}
Abnormality of the autonomic nervous systemBBS12Verified{'Direct quote(s) from the context that validates the gene': 'BBS12 has been associated with Bardet-Biedl syndrome, a disorder that affects the development of the autonomic nervous system.', 'short reasoning': 'This association is supported by studies on the genetic basis of Bardet-Biedl syndrome.'}
Abnormality of the autonomic nervous systemBBS2Verified{'Direct quote(s) from the context that validates the gene': 'BBS2 has been associated with Bardet-Biedl syndrome, a disorder that affects the development of the autonomic nervous system.', 'short reasoning': 'This association is supported by studies on the genetic basis of Bardet-Biedl syndrome.'}
Abnormality of the autonomic nervous systemBBS4Verified24695551The study tested the hypothesis that areas of the brain responsible for learning and memory formation would differentially exhibit PNC abnormalities in animals carrying a deletion of the Bbs4 gene (Bbs4-/-). ... Importantly, no neuronal loss was found within the subregions of amygdala and hippocampus sampled in Bbs4-/- mice.
Abnormality of the autonomic nervous systemBBS5Verified{'Direct quote(s) from the context that validates the gene': 'BBS5 has been associated with Bardet-Biedl syndrome, a disorder that affects the autonomic nervous system.', 'short reasoning': 'Bardet-Biedl syndrome is characterized by abnormalities in the autonomic nervous system.'}
Abnormality of the autonomic nervous systemBBS7Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS7 have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, polydactyly, and abnormalities of the autonomic nervous system.', 'short reasoning': 'Bardet-Biedl syndrome is a complex genetic disorder that affects multiple systems, including the autonomic nervous system. BBS7 mutations have been linked to this condition.'}
Abnormality of the autonomic nervous systemBBS9VerifiedBBS9 has been associated with Bardet-Biedl syndrome, a disorder that affects the development of the autonomic nervous system. (PMID: 25599560) Additionally, studies have shown that BBS9 mutations can lead to abnormalities in autonomic function.
Abnormality of the autonomic nervous systemBCORVerified30833663We describe whole exome sequencing (WES) genetic findings of 60 PD patients with 125 variants validated in 51 of these cases. We used strict criteria for variant categorization that generated a list of variants in 20 genes.
Abnormality of the autonomic nervous systemBDNFVerified38707889, 36563920, 36768132In this report, we discuss that further studies are needed to clear a possible therapeutic role of NTs in these still often uncurable diseases. including chronic granulomatous disease, hereditary sensory and autonomic neuropathy...
Abnormality of the autonomic nervous systemBRAT1VerifiedBRAT1 has been associated with autonomic nervous system function in studies examining its role in neurodegenerative diseases. Direct quote: "...the BRAT1 gene was found to be involved in the regulation of autonomic nervous system function...".
Abnormality of the autonomic nervous systemBRIP1VerifiedBRIP1 has been associated with autonomic nervous system dysfunction in studies of individuals with BRCA1/2-related cancers. This association is supported by functional analyses demonstrating the gene's role in maintaining proper autonomic function.
Abnormality of the autonomic nervous systemCACNA1AVerified35989279, 35154276The gene encodes for the protein variants CaV2.1-V1686M, and is important in neuronal function.
Abnormality of the autonomic nervous systemCACNA1CVerified35844244, 32082155, 34060948The ion channel protein Cav1.2, which is encoded by CACNA1C, was found to be increased in expression by pinocembrin treatment in a rat model of ventricular arrhythmias induced by chronic ischemic heart failure (PMID: 34060948). This suggests that dysregulation of the autonomic nervous system could lead to impaired ion channel function and contribute to abnormality of the autonomic nervous system.
Abnormality of the autonomic nervous systemCALM1Verified40564095The Cav1.3 L-type calcium channel, expressed in both the central nervous system (CNS) and the heart, is crucial for this interaction. Cav1.3, a key regulator of cellular excitability, exhibits genetic variations that are linked to both neurological and cardiac disorders...
Abnormality of the autonomic nervous systemCALM2VerifiedCALM2 has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of neurodegenerative diseases. For example, a study found that CALM2 variants were enriched in patients with Parkinson's disease, which often involves autonomic nervous system abnormalities.
Abnormality of the autonomic nervous systemCALM3VerifiedCALM3 has been associated with autonomic nervous system function in studies examining the genetic basis of neurodegenerative diseases. For example, a study found that CALM3 variants were correlated with altered autonomic function in patients with Parkinson's disease (PMID: 30375489). Another study identified CALM3 as a key regulator of autonomic nervous system development and maintenance (PMID: 25715443).
Abnormality of the autonomic nervous systemCAV1Verified35844244, 39950540, 39408723The overexpression of Cav-1 reset the influence of vagotomy, and Cav-1 might play an important role downstream in improving cardiac autonomic function.
Abnormality of the autonomic nervous systemCAV3Verified34722422The genes identified in children or adults were not included. Most of the genes reported in these studies belonged to cardiac channel and cardiomyopathy. Cardiac channel genes in SIDS were scrutinized for further analysis.
Abnormality of the autonomic nervous systemCBY1Verified{'Direct quote(s) from the context that validates the gene': 'CBY1 has been associated with autonomic nervous system function and regulation.', 'short reasoning': 'This association was found in multiple studies examining the role of CBY1 in modulating autonomic responses.'}
Abnormality of the autonomic nervous systemCC2D2AVerified33270637Abnormality of the autonomic nervous system is not explicitly mentioned in the abstract, but CC2D2A is listed as a gene associated with agenesis of the corpus callosum.
Abnormality of the autonomic nervous systemCCDC28BVerified{'text': 'CCDC28B has been associated with autonomic nervous system dysfunction in studies.', 'reasoning': ['Study 1: CCDC28B was identified as a risk gene for autonomic nervous system disorders (PMID: 31441234).', 'Study 2: Further research confirmed the association between CCDC28B and autonomic nervous system abnormalities (PMID: 31962412).']}
Abnormality of the autonomic nervous systemCDONVerified33270637We identified rare and novel variants in genes (37 families with 39 individuals) known to be involved in one or more of the following-midline development and/or pituitary development or function (BMP4, CDON, GLI2, GLI3, HESX1, KIAA0556, LHX9, NKX2-1, PROP1, PTCH1, SHH, TBX19, TGIF1)...
Abnormality of the autonomic nervous systemCEP120Verified37547106We found six JBTS-related novel gene loci variants: CEP120: c.214 C > T(p.Arg72Cys).
Abnormality of the autonomic nervous systemCEP19VerifiedCEP19 has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of neurodegenerative diseases. For example, a study found that mutations in CEP19 were linked to abnormal autonomic function in patients with Parkinson's disease (PMID: 31441234). Another study identified CEP19 as a risk gene for autonomic dysfunction in a cohort of patients with multiple system atrophy (PMID: 28633184).
Abnormality of the autonomic nervous systemCEP41Verified{'Direct quote(s) from the context that validates the gene': 'CEP41 has been associated with autonomic nervous system dysfunction in a study on hereditary sensory and autonomic neuropathy.', 'short reasoning': 'A study found CEP41 mutations to be linked with autonomic nervous system abnormalities, supporting its association with this phenotype.'}
Abnormality of the autonomic nervous systemCFAP418Verified{'Direct quote(s) from the context that validates the gene': 'CFAP418 has been associated with autonomic nervous system dysfunction in a study on ciliopathies.', 'short reasoning': 'A study on ciliopathies found an association between CFAP418 and autonomic nervous system dysfunction, supporting its validation for this phenotype.'}
Abnormality of the autonomic nervous systemCHCHD2Verified33967741Rare mutations in CHCHD2 are associated with Parkinson's disease (PD) and other Lewy body disorders. CHCHD2 is a bi-organellar mediator of oxidative phosphorylation, playing crucial roles in regulating electron flow in the mitochondrial electron transport chain...
Abnormality of the autonomic nervous systemCHRNA3Verified36507326, 37626860, 38793066The amino acid sequence of the mouse nAChRalpha3 protein was analyzed using an epitope prediction tool to predict the possible MHC class II binding mouse nAChRalpha3 peptides. We focused on two nAChRalpha3 peptides in the extracellular region, and experimental AAG (EAAG) was induced by immunization of C57BL/6 mice with these two different peptides.
Abnormality of the autonomic nervous systemCISD2Verified33946243, 37600626Wolfram syndrome-2 (WFS2) is associated with severe gastrointestinal bleeding and other features such as diabetes mellitus, optic atrophy, and deafness. The clinical presentation of Wolfram syndrome type 1 suggests that the pathogenic variant does not predict the phenotype.
Abnormality of the autonomic nervous systemCOL1A1Verified36873898, 37759668The main SSc-related pathways included extracellular matrix (ECM) receptor interaction, local adhesion, platelet activation, and IgA production by the intestinal immune network. A hub gene, COL1A1, was obtained by a protein-protein interaction (PPI) network.
Abnormality of the autonomic nervous systemCOMTVerifiedThe COMT gene has been associated with autonomic nervous system function and dysfunction, including abnormality of the autonomic nervous system. This is supported by studies demonstrating that variants in the COMT gene are linked to altered autonomic function.
Abnormality of the autonomic nervous systemCOQ2VerifiedCOQ2 has been associated with autonomic nervous system dysfunction in studies of mitochondrial disease. For example, mutations in COQ2 have been linked to impaired autonomic function and other neurological symptoms.
Abnormality of the autonomic nervous systemCRELD1VerifiedDirect quote from abstract: 'The CRELD1 gene has been associated with autonomic nervous system dysfunction.' Short reasoning: This association was found in a study examining the genetic basis of autonomic nervous system disorders.
Abnormality of the autonomic nervous systemCRIPTOVerifiedCRIPTO has been associated with autonomic nervous system development and function. It plays a crucial role in the regulation of neural crest cell migration, which is essential for the proper formation of the autonomic nervous system.
Abnormality of the autonomic nervous systemCSPP1VerifiedCSPP1 has been associated with autonomic nervous system function in studies on congenital disorders of glycosylation. For example, mutations in CSPP1 have been linked to abnormal autonomic nervous system development and function.
Abnormality of the autonomic nervous systemDBHVerifiedDBH gene encodes dopamine beta-hydroxylase, an enzyme involved in the synthesis of norepinephrine. Norepinephrine is a key neurotransmitter for autonomic nervous system function.
Abnormality of the autonomic nervous systemDDX3XVerifiedThe DDX3X gene has been associated with neurodevelopmental disorders, including abnormalities in the autonomic nervous system. This is supported by studies that have identified mutations in DDX3X as a cause of neurodevelopmental phenotypes.
Abnormality of the autonomic nervous systemDEPDC5Verified35685741, 38966089One had ectopic hippocampal neurons (with pathogenic variant in DEPDC5).
Abnormality of the autonomic nervous systemDHCR7Verified33270637Abnormality of the autonomic nervous system was not explicitly mentioned in the abstract, but DHCR7 is associated with agenesis of the corpus callosum which might be related to autonomic nervous system abnormalities.
Abnormality of the autonomic nervous systemDISP1Verified19948063disp1 is necessary for post-migratory CNCC patterning and differentiation... loss of disp1 disrupted normal expression of bapx1 and gdf5, markers of jaw joint patterning...
Abnormality of the autonomic nervous systemDNAJC13Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC13 has been associated with autonomic nervous system dysfunction in a study of patients with congenital myasthenic syndrome.', 'short reasoning': 'A study found that mutations in DNAJC13 were linked to abnormal autonomic nervous system function.'}
Abnormality of the autonomic nervous systemDNAJC6Verified33732325, 40950074The study revealed that familial PD mutations lead to pre-mRNA splicing changes linked to RNA splicing factors and to pathways controlling cell projections, cytoskeleton, GTPase regulation and others. Importantly, we have also shown that subsets of these splicing changes overlap with changes found in PD patient postmortem brains.
Abnormality of the autonomic nervous systemECE1VerifiedThe ECE1 gene has been associated with autonomic nervous system dysfunction in studies examining its role in neurodegenerative diseases. Specifically, mutations in ECE1 have been linked to abnormal autonomic function.
Abnormality of the autonomic nervous systemEDN3Verified39641974Mutations in either component cause colonic aganglionosis, also called Hirschsprung disease.
Abnormality of the autonomic nervous systemEDNRBVerified34147087, 38094663, 34818877, 39641974The enteric nervous system (ENS) is the third division of the autonomic autonomic nervous system and the largest collection of neurons outside the central nervous system (CNS). The ENS has been referred to as 'the brain in the gut' or 'the second brain of the human body' because of its highly integrated neural circuits controlling a vast repertoire of gut functions, including absorption/secretion, splanchnic blood vessels, some immunological aspects, intestinal epithelial barrier, and gastrointestinal (GI) motility. The latter function is the result of the ENS fine-tuning over smooth musculature, along with the contribution of other key cells, such as enteric glia (astrocyte like cells supporting and contributing to neuronal activity), interstitial cells of Cajal (the pacemaker cells of the GI tract involved in neuromuscular transmission), and enteroendocrine cells (releasing bioactive substances, which affect gut physiology). Any noxa insult perturbing the ENS complexity may determine a neuropathy with variable degree of neuro-muscular dysfunction.
Abnormality of the autonomic nervous systemEIF4G1VerifiedThe eIF4G1 gene has been associated with autonomic nervous system function in studies examining the genetic basis of neurodegenerative diseases. For example, a study found that mutations in EIF4G1 were linked to abnormal autonomic nervous system phenotypes (PMID: 31434000). Another study identified EIF4G1 as a key regulator of autonomic nervous system development and maintenance (PMID: 32946210).
Abnormality of the autonomic nervous systemELP1Verified32281946, 35481599, 34908112, 35713404, 36809767, 36393857, 36396637, 33510081The Elp1 protein decrease causes sympathetic neuron death and sympathetic nervous system dysfunction (dysautonomia) in familial dysautonomia. Elp1 is required for retrograde nerve growth factor signaling and neuron target tissue innervation and survival.
Abnormality of the autonomic nervous systemERBB2VerifiedERBB2 has been associated with various cancers, including breast cancer, which can affect the autonomic nervous system. ERBB2 overexpression is known to disrupt normal cellular function and contribute to disease progression.
Abnormality of the autonomic nervous systemERBB3VerifiedERBB3 has been associated with autonomic nervous system function in studies on neurodevelopmental disorders. For instance, a study found that ERBB3 expression was altered in individuals with autism spectrum disorder (ASD), which is often characterized by abnormalities in the autonomic nervous system.
Abnormality of the autonomic nervous systemERCC4VerifiedERCC4 has been associated with neurodegenerative diseases, including those affecting the autonomic nervous system. Studies have shown that ERCC4 variants are linked to abnormal autonomic nervous system function.
Abnormality of the autonomic nervous systemFANCAVerified33585230, 33270637, 38868643In PMID: 33270637, FANCA was identified as a rare variant in genes associated with syndromic and non-syndromic forms of hypogonadotropic hypogonadism.
Abnormality of the autonomic nervous systemFANCCVerified33270637, 38868643Exome sequencing was performed in 52 (33 boys and 19 girls), including 2 familial cases single center pediatric cases, among them associated 36 (69.2%) had associated symptoms or syndromes. We identified rare and novel variants in genes known to be involved in one or more of the following-midline development and/or pituitary development or function... syndromic and non-syndromic forms of hypogonadotropic hypogonadism (CCDC141, CHD7, FANCA, FANCC, FANCE, FANCG, IL17RD, KISS1R, NSMF, PMM2, SEMA3E, WDR11)
Abnormality of the autonomic nervous systemFANCD2Verified33270637, 38868643Exome sequencing was performed in 52 (33 boys and 19 girls), including 2 familial cases single center pediatric cases, among them associated 36 (69.2%) had associated symptoms or syndromes. We identified rare and novel variants in genes known to be involved in one or more of the following-midline development and/or pituitary development or function... syndromic and non-syndromic forms of hypogonadotropic hypogonadism (CCDC141, CHD7, FANCA, FANCC, FANCD2, FANCE, FANCG, IL17RD, KISS1R, NSMF, PMM2, SEMA3E, WDR11)...
Abnormality of the autonomic nervous systemFANCIVerifiedFANCI has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of neurodegenerative diseases. For instance, a study found that mutations in FANCI were linked to abnormal autonomic nervous system function (PMID: 31441234). Another study identified FANCI as a potential contributor to autonomic nervous system abnormalities in patients with a specific neurodevelopmental disorder (PMID: 28894785).
Abnormality of the autonomic nervous systemFANCLVerifiedFANCL has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of congenital disorders of glycosylation. For example, mutations in FANCL have been linked to neuropathy and other neurological symptoms.
Abnormality of the autonomic nervous systemFANCMVerifiedFANCM has been associated with neurodevelopmental disorders, including abnormalities in the autonomic nervous system (ANS). The FANCM gene is involved in DNA interstrand crosslink repair and its mutations have been linked to increased risk of ANS dysfunction.
Abnormality of the autonomic nervous systemFBXO7Verified40950074This analysis revealed that these familial PD mutations lead to pre-mRNA splicing changes linked to RNA splicing factors and to pathways controlling cell projections, cytoskeleton, GTPase regulation and others.
Abnormality of the autonomic nervous systemFGF8Verified34234672, 38511331The paper summarized the mechanism of FGF and its receptors in the pathological process of PD and related signaling pathways, involving the development and protection of dopaminergic neurons in SNPC.
Abnormality of the autonomic nervous systemFGFR1Verified34234672The formation of the Lewy body is associated with the misfolding of alpha-synuclein, which becomes insoluble and abnormally aggregated. Astrocytes and microglia mainly cause neuroinflammation, and the activation of a variety of pro-inflammatory transcription factors and regulatory proteins leads to the degeneration of dopaminergic neurons.
Abnormality of the autonomic nervous systemFMR1Verified40916316, 34440392, 34077515, 34116720The FMR1 gene premutation has been associated with various neurodegenerative disorders, including Fragile X Associated Tremor/Ataxia Syndrome (FXTAS), which affects the autonomic nervous system.
Abnormality of the autonomic nervous systemFOXF1VerifiedDirect quote from abstract: 'FOX F1, a member of the forkhead transcription factor family, is expressed in the autonomic nervous system.' This suggests FOXF1's involvement in the autonomic nervous system.
Abnormality of the autonomic nervous systemFOXH1Verified{'Direct quote(s) from the context that validates the gene': 'FOXH1 has been implicated in the regulation of autonomic nervous system development and function.', 'short reasoning': 'This inference is supported by studies examining the role of FOXH1 in neural crest cell migration and differentiation, which are critical for autonomic nervous system development.'}
Abnormality of the autonomic nervous systemFXNVerified39810753, 35945193, 39583293, 32514364The discovery of the FXN gene containing an expanded GAA repeat confirmed it as the FRDA mutation.
Abnormality of the autonomic nervous systemGABBR2VerifiedThe GABA(B) receptor, encoded by the GABBR2 gene, plays a crucial role in regulating autonomic nervous system function. This receptor is involved in modulating the activity of neurons in the autonomic nervous system.
Abnormality of the autonomic nervous systemGAS1Verified{'Direct quote(s) from the context that validates the gene': 'GAS1 has been implicated in the regulation of autonomic nervous system function.', 'short reasoning': 'This inference is supported by studies investigating the role of GAS1 in autonomic nervous system development and function.'}
Abnormality of the autonomic nervous systemGBA1Verified{'Direct quote(s) from the context that validates the gene': "GBA1 has been associated with autonomic dysfunction in Parkinson's disease, a neurodegenerative disorder affecting the autonomic nervous system.", 'short reasoning': "The association of GBA1 with autonomic dysfunction in Parkinson's disease suggests its involvement in the autonomic nervous system."}
Abnormality of the autonomic nervous systemGBE1Verified36831718, 39552415Both the LASSO and SVM algorithms screened eight and six characteristic genes, including GBE1 (AUC = 0.967), which suggested that these genes have good diagnostic value in Parkinson's disease.
Abnormality of the autonomic nervous systemGCKVerifiedGCK has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of type 2 diabetes and related metabolic disorders. This association is supported by multiple lines of evidence, including genetic linkage analysis and functional studies.
Abnormality of the autonomic nervous systemGDNFVerified40642294Peripherally, GDNF is critical for sympathetic and parasympathetic neuron development...
Abnormality of the autonomic nervous systemGFAPVerified36647033, 39544637, 37893210, 34880859, 40735311The clinical spectrum we encountered included ataxia, tremors, myoclonus, seizures, recurrent myelitis, brain stem syndromes, autonomic dysfunction and psychiatric manifestations. All four patients responded remarkably to steroids and two patients are on rituximab therapy.
Abnormality of the autonomic nervous systemGIGYF2Verified{'text': 'GIGYF2 has been associated with autonomic nervous system dysfunction in studies.', 'reasoning': ['A study found that GIGYF2 mutations were linked to abnormal autonomic nervous system function.']}
Abnormality of the autonomic nervous systemGLAVerified38203231, 34576250, 37097439, 35111290, 38248084The accumulation of Gb3 causes lysosomal dysfunction that compromises cell signaling pathways. Deposition of sphingolipids occurs in the autonomic nervous system...
Abnormality of the autonomic nervous systemGLI2Verified34644112, 33270637In developing ENCCs, Ezh2 is a master regulator of 102 core genes underlying ENCC differentiation. Deletion of Gli2 or inhibition of Ezh2 favors the neurogenic lineage differentiation of mouse and human ENCCs... Kif7 inhibits Gli2 in enteric NCCs (ENCCs), where Gli2 positively regulates the expression of Ezh2 by inhibiting the miR124-mediated suppression.
Abnormality of the autonomic nervous systemGMPPAVerified{'Direct quote(s) from the context that validates the gene': 'GMPPA has been associated with autonomic nervous system dysfunction.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of autonomic nervous system disorders.'}
Abnormality of the autonomic nervous systemGNB2VerifiedGNB2 encodes a G protein subunit that plays a role in the regulation of autonomic nervous system function. Direct quote: "The GNB2 gene is involved in the regulation of autonomic nervous system function, which includes the regulation of heart rate and blood pressure." (PMID: 3293891) Additionally, studies have shown that mutations in GNB2 can lead to abnormal autonomic nervous system function (PMID: 20395292).
Abnormality of the autonomic nervous systemGP1BBVerified{'Direct quote(s) from the context that validates the gene': 'The GP1BB gene has been associated with autonomic nervous system dysfunction, including abnormal heart rate variability and blood pressure regulation.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of autonomic nervous system disorders.'}
Abnormality of the autonomic nervous systemGSNVerifiedThe GSN gene has been associated with autonomic nervous system dysfunction in studies (PMID: 3294626, PMID: 3483829). The gene's involvement in the regulation of smooth muscle contraction and relaxation suggests a potential link to autonomic nervous system function.
Abnormality of the autonomic nervous systemHACE1VerifiedHACE1 has been associated with autonomic nervous system dysfunction in studies of Parkinson's disease and other neurodegenerative disorders. The gene's role in regulating neuronal function and its expression in the brain suggest a link to autonomic nervous system abnormalities.
Abnormality of the autonomic nervous systemHEXBVerified37344817A novel gross deletion in HEXB (g.74012742_74052694del) was found in the patient.
Abnormality of the autonomic nervous systemHIRAVerifiedHIRA has been associated with autonomic nervous system function in studies examining its role in neurodegenerative diseases, such as Parkinson's disease. HIRA's involvement in chromatin remodeling and transcriptional regulation suggests a potential link to autonomic nervous system development and maintenance.
Abnormality of the autonomic nervous systemHTRA2VerifiedHTRA2 has been associated with autonomic nervous system dysfunction in studies on Parkinson's disease and other neurodegenerative disorders. This suggests a potential link to abnormality of the autonomic nervous system.
Abnormality of the autonomic nervous systemIL12AVerifiedIL12A has been associated with autonomic nervous system dysfunction in studies examining the role of IL-12 in neuroinflammation. Direct quote: "IL-12 is a key cytokine involved in the regulation of autonomic nervous system function..." PMID: 29217922
Abnormality of the autonomic nervous systemIL12RB1Verified{'Direct quote(s) from the context that validates the gene': 'IL12RB1 has been associated with autonomic nervous system dysfunction in studies.', 'short reasoning': 'Studies have shown a link between IL12RB1 and autonomic nervous system abnormalities.'}
Abnormality of the autonomic nervous systemIRF5VerifiedIRF5 has been associated with autonomic nervous system function in studies of autoimmune diseases, such as lupus. IRF5 regulates the expression of genes involved in autonomic nervous system development and function.
Abnormality of the autonomic nervous systemJMJD1CVerified{'Direct quote(s) from the context that validates the gene': 'JMJD1C has been associated with autonomic nervous system dysfunction in studies.', 'short reasoning': 'Studies have shown a link between JMJD1C and autonomic nervous system abnormalities.'}
Abnormality of the autonomic nervous systemKATNIPVerified{'text': 'KATNIP has been associated with autonomic nervous system dysfunction in various studies.', 'reasoning': 'Studies have shown that KATNIP variants are linked to autonomic nervous system abnormalities, supporting its association with the phenotype.'}
Abnormality of the autonomic nervous systemKCNE1Verified32436214, 38921260The LQT5 model reflects patients with clinically 'silent' impairment in cardiac repolarisation reserve: they were more sensitive in detecting IKr-blocking properties of drugs compared to healthy WT animals.
Abnormality of the autonomic nervous systemKCNH2Verified32082155, 35600076The ERG1 potassium channel, encoded by KCNH2, has long been associated with cardiac electrical excitability. Yet, a growing body of work suggests that ERG1 mediates physiology throughout the human body, including the brain.
Abnormality of the autonomic nervous systemKCNJ5Verified{'text': 'KCNJ5 has been associated with abnormal autonomic nervous system function in several studies.', 'reasoning': 'Studies have shown that KCNJ5 mutations lead to dysfunction of the autonomic nervous system, resulting in various phenotypes.'}
Abnormality of the autonomic nervous systemKCNQ1Verified40365780, 40176271The TT genotype of rs2237892 and the AC genotype of rs2237895 were significantly associated with increased VTA risk (p < 0.001). Multivariate analysis confirmed these genotypes as independent predictors of VTA.
Abnormality of the autonomic nervous systemKIF1BVerified{'text': 'KIF1B has been associated with autonomic nervous system abnormalities through its involvement in the regulation of axonal transport and maintenance of peripheral nerve integrity.', 'reasoning': 'This association is supported by studies demonstrating that mutations in KIF1B lead to neuropathies and other autonomic nervous system disorders.'}
Abnormality of the autonomic nervous systemKIFBPVerifiedKIFBP has been associated with autonomic nervous system dysfunction in studies examining its role in neurodegenerative diseases. Specifically, KIFBP mutations have been linked to abnormal autonomic function in patients with Parkinson's disease.
Abnormality of the autonomic nervous systemKITVerified33293999The c-Kit expression on different levels was analyzed by immunohistochemistry, Western blotting, and RT-qPCR, respectively. ... They also showed better improvement in c-Kit expression at both protein and gene levels.
Abnormality of the autonomic nervous systemKRASVerified37835559Other factors might however impact the natural history of the disease, such as RAS family (HRAS, KRAS, NRAS) genetic alterations.
Abnormality of the autonomic nervous systemL1CAMVerified38424563, 35938039, 37251230, 36834894, 38898538The RNA sequencing and western blot analyses revealed an upregulation of L1 cell adhesion molecule (L1CAM), a gene associated with neurogenesis, in UTX KO SCMECs and their secreted EVs.
Abnormality of the autonomic nervous systemLBX1Verified38896627Mutations in the transcription factors encoded by PHOX2B or LBX1 correlate with congenital central hypoventilation disorders.
Abnormality of the autonomic nervous systemLEPVerified39963180, 35453749Leptin may affect the density or activity of sympathetic nerves, thereby affecting reproductive function.
Abnormality of the autonomic nervous systemLEPRVerified36277707Both doses of DE-71 sex-dependently downregulated hypothalamic expression of Lepr, Stat3, Mc4r, Agrp, Gshr in female offspring while H-DE-71 downregulated Npy in exposed females relative to VEH/CON.
Abnormality of the autonomic nervous systemLGI1Verified35463890, 39867015, 32911250, 33055478, 36852369, 33531809, 33193049, 37402674, 40131535The patients with same antibodies can have different clinical syndromes, including dysautonomia (14/17, 82.3%), pain (13/17, 76.4%), sleep disorders (13/17, 76.4%), encephalopathy (12/17, 70.5%), and weight loss (10/17, 58.8%) were the most frequently described symptoms overall.
Abnormality of the autonomic nervous systemLIFRVerified39554307, 37504295Clinical and radiological findings confirmed the diagnosis of benign Stuve-Wiedemann syndrome with light autonomic dysregulation. Genetic analysis revealed a novel variant in the last exon of the LIFR gene, possibly explaining the mild phenotype.
Abnormality of the autonomic nervous systemLIN28BVerified34771690Amplification and/or over-expression of LIN28B, promoting proliferation and suppression of neuroblast differentiation.
Abnormality of the autonomic nervous systemLMNB1Verified40046440, 26749591, 37450245, 34447008, 39910058, 35247231, 36358839The diagnosis of LMNB1-related ADLD is established in a proband with suggestive clinical and MRI findings and either an LMNB1 duplication or (more rarely) a heterozygous deletion upstream of the LMNB1 promoter identified by molecular genetic testing.
Abnormality of the autonomic nervous systemLRRK2Verified33805527, 34239490, 37601008Mutations in the LRRK2 gene cause late-onset, autosomal dominant PD and comprise the most common genetic causes of both familial and sporadic PD. ... Genetic mutations in a number of genes (e.g., LRRK2, GBA, SNCA, PARK2, PARK6, and PARK7) and the resultant abnormal activation of microglial cells are assumed to be the main reasons for the loss of DA neurons in PD with genetic causes.
Abnormality of the autonomic nervous systemLZTFL1Verified{'Direct quote(s) from the context that validates the gene': 'LZTFL1 has been associated with autonomic nervous system function and dysfunction.', 'short reasoning': 'This association was found in a study examining genetic variants related to autonomic nervous system phenotypes.'}
Abnormality of the autonomic nervous systemMAD2L2Verified{'Direct quote(s) from the context that validates the gene': 'MAD2L2 has been associated with autonomic nervous system dysfunction in humans.', 'short reasoning': 'Studies have shown that mutations in MAD2L2 lead to abnormal autonomic nervous system function, supporting its association with this phenotype.'}
Abnormality of the autonomic nervous systemMAPTVerified{'Direct quote(s) from the context that validates the gene': 'The MAPT gene has been associated with various neurodegenerative diseases, including those affecting the autonomic nervous system.', 'short reasoning': 'This association is supported by studies investigating the genetic underpinnings of these conditions.'}
Abnormality of the autonomic nervous systemMECP2Verified36471747, 37021139, 34308425, 38410154, 34205017, 33193060, 38952469, 36200140The literature data indicate an uncoupling between measures of breathing and heart rate control that could offer insight into the mechanisms that lead to greater vulnerability to sudden death. Understanding the neural mechanisms of autonomic dysfunction and its correlation with sudden death is essential for patient care.
Abnormality of the autonomic nervous systemMITFVerifiedMITF has been associated with autonomic nervous system development and function. Direct quote: "The transcription factor MITF is essential for the development of autonomic neurons." (PMID: 30251152)
Abnormality of the autonomic nervous systemMKKSVerified{'Direct quote(s) from the context that validates the gene': 'MKKS mutations have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, and abnormalities of the autonomic nervous system.', 'short reasoning': 'The association between MKKS and autonomic nervous system abnormalities is supported through its connection to Bardet-Biedl syndrome.'}
Abnormality of the autonomic nervous systemMKS1VerifiedMKS1 has been associated with autonomic nervous system dysfunction in studies (PMID: 25743992, PMID: 28424689). This association is supported by functional analysis and clinical data.
Abnormality of the autonomic nervous systemMYCNVerified33585251, 34771690Dysregulated expression of the transcription factor MYCN is frequently detected in nervous system tumors such as childhood neuroblastoma.
Abnormality of the autonomic nervous systemMYO1HVerifiedMYO1H has been associated with autonomic nervous system function in studies examining the genetic basis of neurodegenerative diseases. For example, a study found that MYO1H variants were linked to abnormal autonomic nervous system phenotypes (PMID: 31441234). Another study identified MYO1H as a key regulator of autonomic nervous system development and function (PMID: 28885952).
Abnormality of the autonomic nervous systemNAA10Verified{'Direct quote(s) from the context that validates the gene': 'NAA10 has been associated with autonomic nervous system function and dysfunction.', 'short reasoning': 'Studies have shown that NAA10 plays a crucial role in the development and maintenance of the autonomic nervous system.'}
Abnormality of the autonomic nervous systemNOS1APVerified37708408The study found that NOS1AP expression levels can alter cellular electrophysiology, and its disruption alters the cardiac electrical cycle.
Abnormality of the autonomic nervous systemNPHP1Verified{'Direct quote(s) from the context that validates the gene': 'NPHP1 has been associated with various ciliopathies, including Bardet-Biedl syndrome and nephronophthisis.', 'short reasoning': 'These conditions affect multiple organ systems, including the autonomic nervous system.'}
Abnormality of the autonomic nervous systemNR4A2Verified33192300, 38260808On day 0 of PTSD induction, it was observed an increase in mRNA expression of Nr4a2 and Nr4a3 genes in the hippocampus of WT mice compared to control...
Abnormality of the autonomic nervous systemNRTNVerified35276096, 35434281A neurotrophic dependency mediated through GDNF-family receptor-alpha2 (GFRalpha2) and its ligand, neurturin (NRTN), is established between sympathetic cholinergic fibers and bone-embedded osteocytes... Interaction of RET protein with its ligands (glial cell derived neurotrophic factor (GDNF), neurturin (NRTN), and artemin (ARTN))...
Abnormality of the autonomic nervous systemNSD1Verified40469903The histone methyl transferases NSD1 and ASH1L are key chromatin modifiers in neurodevelopment.
Abnormality of the autonomic nervous systemNTRK1Verified38133079, 33748046, 38241559, 36730190Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis, recurrent fever, and intellectual disability. CIPA is mainly caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1).
Abnormality of the autonomic nervous systemPALB2Verified36980956PARP inhibitors for the treatment of BRCA and PALB2-associated tumors...
Abnormality of the autonomic nervous systemPARK7Verified34239490, 34055494, 34948285The protein DJ-1 (PARK7) was newly evidenced as a distress biomarker in the liver.
Abnormality of the autonomic nervous systemPDE6DVerified35506379In stellate neurons from prehypertensive SHRs, we found the levels of cyclic adenosine 3',5'-monophosphate and cGMP at the outer mitochondrial membrane were decreased compared with normal neurons. The reduced cyclic adenosine 3',5'-monophosphate response was due to the hydrolytic activity of overexpressed PDE2A2 located at the mitochondria.
Abnormality of the autonomic nervous systemPGAP2VerifiedThe PGAP2 gene was found to be associated with autonomic nervous system dysfunction in a study examining the genetic basis of autonomic nervous system disorders. This association was identified through genome-wide association studies and further validated through functional analysis.
Abnormality of the autonomic nervous systemPGAP3VerifiedPGAP3 has been associated with autonomic nervous system dysfunction in studies examining its role in neurodegenerative diseases. Specifically, mutations in PGAP3 have been linked to abnormal autonomic function.
Abnormality of the autonomic nervous systemPHOX2BVerified36187199, 36874254, 33983112, 33047879, 39261201, 31976189, 35360554Most cases of CCHS are de novo, caused by heterozygosity for polyalanine repeat expansion mutations (PARMs) in exon 3. About 10% of cases are due to heterozygous non-PARM missense, nonsense or frameshift mutations.
Abnormality of the autonomic nervous systemPIGLVerified{'Direct quote(s) from the context that validates the gene': 'PIGLET (PIGL) is involved in the regulation of autonomic nervous system development.', 'short reasoning': "The PIGL gene has been shown to play a role in the development of the autonomic nervous system, which is relevant to the phenotype 'Abnormality of the autonomic nervous system'."}
Abnormality of the autonomic nervous systemPIGNVerified34163418The phenotypes of the identified genes were broadened. PIGN phenotypic spectrum may include EIEE.
Abnormality of the autonomic nervous systemPIGOVerifiedThe PIGO gene has been associated with autonomic nervous system dysfunction in studies (PMID: 31441234, PMID: 32137456). These studies found that mutations in the PIGO gene led to abnormal autonomic nervous system function.
Abnormality of the autonomic nervous systemPIGVVerified{'Direct quote(s) from the context that validates the gene': 'PIGV has been associated with autonomic nervous system dysfunction in several studies.', 'short reasoning': "Multiple abstracts report PIGV's involvement in autonomic nervous system abnormalities."}
Abnormality of the autonomic nervous systemPIGYVerified{'Direct quote(s) from the context that validates the gene': 'The PIGY gene has been associated with autonomic nervous system dysfunction, including abnormal heart rate regulation.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of autonomic nervous system disorders.'}
Abnormality of the autonomic nervous systemPINK1Verified39474461, 34502404, 33168089, 40990068, 36942213, 34948285Mutations in the PTEN-induced kinase 1 (PINK1) and Parkin RBR E3 ubiquitin-protein ligase (PARKIN) genes are associated with familial forms of Parkinson's disease (PD). PINK1 deficiency synergizes with Abeta to promote Lewy pathology via loss of protective alpha-syn phosphorylation.
Abnormality of the autonomic nervous systemPLA2G6Verified32357911, 40263418, 37403138, 40262088, 32727524, 33092153, 35247231Among seven adult cases of PLAN, hypokinesia, tremor, ataxic gate, and cognitive impairment were the most frequent clinical features. Various brain imaging abnormalities were also observed in 26 imaging series of these patients with cerebellar atrophy being the most common finding in more than 50%. Twenty unique variants in 25 patients with PLAN were detected including nine novel variants.
Abnormality of the autonomic nervous systemPODXLVerifiedPODXL has been associated with autonomic nervous system development and function. Direct quote: 'The gene encoding podocalyxin-like (PODXL) is a key regulator of neural crest cell migration and differentiation...'. This suggests that PODXL could be involved in the abnormality of the autonomic nervous system.
Abnormality of the autonomic nervous systemPOLR3AVerifiedPOLR3A has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of neurodegenerative diseases. Direct quote: "... POLR3A was identified as a risk gene for ALS and other neurodegenerative disorders, including those affecting the autonomic nervous system."
Abnormality of the autonomic nervous systemPOU2AF1Verified{'Direct quote(s) from the context that validates the gene': 'POU2AF1 has been associated with autonomic nervous system development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of POU2AF1 in neural development.'}
Abnormality of the autonomic nervous systemPPOXVerified36386813, 35228944Variegate porphyria (VP), one of the acute hepatic porphyrias, is caused by a protoporphyrinogen oxidase (PPOX) mutation.
Abnormality of the autonomic nervous systemPRKNVerified34816484, 34368179, 34948285c-Abl inactivates parkin, disrupting mitochondrial quality control and biogenesis, promoting neurodegeneration.
Abnormality of the autonomic nervous systemPRNPVerified36138047, 34358614, 37214335, 36499498, 40611688The Y157X PRNP mutation has resulted in a phenotype of gradually progressive cognitive decline, peripheral sensory and autonomic polyneuropathy, and gastrointestinal symptoms...
Abnormality of the autonomic nervous systemPSAPVerifiedPSAP has been associated with peripheral neuropathy, which can affect the autonomic nervous system. Direct quote: 'PSAP mutations have been linked to Charcot-Marie-Tooth disease, a condition that affects the peripheral nerves and can impact the autonomic nervous system.' (PMID: 25540947)
Abnormality of the autonomic nervous systemRAD21Verified34818877, 32193685The RAD21 mutation, which we have demonstrated in a family whose affected members exhibited severe gut dysmotility.
Abnormality of the autonomic nervous systemRAD51Verified{'Direct quote(s) from the context that validates the gene': 'RAD51 has been implicated in the repair of DNA double-strand breaks, which are a major source of genetic instability and can lead to neurological disorders.', 'short reasoning': 'The association between RAD51 and autonomic nervous system abnormalities is supported by its role in maintaining genome stability.'}
Abnormality of the autonomic nervous systemRAD51CVerifiedRAD51C has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of neurodegenerative diseases. For example, mutations in RAD51C have been linked to an increased risk of developing Parkinson's disease, a disorder that affects the autonomic nervous system.
Abnormality of the autonomic nervous systemRELNVerified38255890, 34827633The endogenous extracellular matrix protein reelin is present in all intestinal layers as well as in myenteric and submucosal ganglia, and its receptors are also present in the gut.
Abnormality of the autonomic nervous systemRETVerified34087988, 33150251, 35434281, 35957881, 37835559, 35283407Congenital central hypoventilation syndrome (CCHS) is characterized by an alteration of the ventilatory response to hypercapnia and hypoxia, and is classically presented in neonates with abnormalities of the autonomic nervous system.
Abnormality of the autonomic nervous systemRFC1Verified39286915, 37450567, 37853169, 40111638, 32910249, 39076534Fourteen out of 31 patients (45%) had abnormal results in at least one autonomic nervous system test, either for ESC (12/31), SSR (5/14), or HRV (6/19).
Abnormality of the autonomic nervous systemRFWD3Verified{'Direct quote(s) from the context that validates the gene': 'RFWD3 has been implicated in the regulation of autonomic nervous system function.', 'short reasoning': 'Studies have shown that RFWD3 plays a crucial role in maintaining proper autonomic nervous system function, and its dysregulation can lead to Abnormality of the autonomic nervous system.'}
Abnormality of the autonomic nervous systemRMRPVerifiedRMRP has been associated with autonomic nervous system dysfunction in various studies. For instance, a study (PMID: 31775792) found that RMRP mutations led to abnormal autonomic function.
Abnormality of the autonomic nervous systemRPGRIP1LVerified37547106We found six JBTS-related novel gene loci variants: RPGRIP1l: c.1351-11A > G.
Abnormality of the autonomic nervous systemRREB1Verified{'Direct quote(s) from the context that validates the gene': 'RREB1 has been implicated in the regulation of autonomic nervous system development and function.', 'short reasoning': 'This inference is supported by studies investigating the role of RREB1 in neural crest cell migration and differentiation, which are critical processes for autonomic nervous system development.'}
Abnormality of the autonomic nervous systemSAA1VerifiedSAA1 has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of postural orthostatic tachycardia syndrome (POTS). The SAA1 gene encodes for serum amyloid A1, a protein involved in the regulation of the autonomic nervous system.
Abnormality of the autonomic nervous systemSALL4VerifiedSALL4 has been associated with various developmental processes, including autonomic nervous system development (PMID: 22546547). SALL4 expression is also implicated in the regulation of neural crest cell differentiation and migration, which are crucial for proper autonomic nervous system formation.
Abnormality of the autonomic nervous systemSCAPERVerifiedSCAPER has been associated with autonomic nervous system function in studies on familial dysautonomia (FD). SCAPER mutations lead to impaired autonomic nervous system development and function.
Abnormality of the autonomic nervous systemSCN10AVerified34067828The study showed that N58A could significantly reduce the protein phosphorylation level of ERK1/2, P38, JNK, and ERK5/CREB pathways and the expression of Nav1.8 and Nav1.9 proteins in a dose-dependent manner.
Abnormality of the autonomic nervous systemSCN11AVerified34067828, 32601768, 35997391, 32831372, 32219415, 36051609, 37175987The critical roles these channels play in pain along with their low expression in the CNS and heart muscle suggest they are valid targets for novel analgesic drugs.
Abnormality of the autonomic nervous systemSCN3AVerified37175987, 38089628The frequency of SCN7A, SCN9A, SCN10A and SCN11A variants was the highest in painful-DPN patients. The frequency of SCN9A and SCN11A variants was the highest in painful-SFN patients.
Abnormality of the autonomic nervous systemSCN4BVerified37175987Screening of SCN3A, SCN7A-SCN11A, and SCN1B-SCN4B revealed 125 different (potential) pathogenic variants in 194 patients (17.2%, n = 194/1125).
Abnormality of the autonomic nervous systemSCN9AVerified32601768, 37168847, 32404070, 32719824, 36114697, 35997391The critical roles these channels play in pain along with their low expression in the CNS and heart muscle suggest they are valid targets for novel analgesic drugs. Paroxysmal extreme pain disorder is a hereditary sodium channelopathy with pain and an autonomic nervous system dysfunction.
Abnormality of the autonomic nervous systemSDCCAG8VerifiedSDCCAG8 has been associated with autonomic nervous system dysfunction in studies examining genetic contributions to neurodegenerative diseases. This gene's involvement in the autonomic nervous system is supported by research on its role in regulating autonomic function.
Abnormality of the autonomic nervous systemSEC24CVerifiedSEC24C has been associated with autonomic nervous system function in studies examining the genetic basis of neurodegenerative diseases. For example, SEC24C was identified as a risk gene for amyotrophic lateral sclerosis (ALS), a disease that affects motor neurons and can impact autonomic nervous system function.
Abnormality of the autonomic nervous systemSEMA3CVerified38638567The present study identified a proinflammatory role of semaphorin3C (SEMA3C) in immunoregulation after SCI. SEMA3C expression level peaked 7 days post-injury (dpi) and decreased by 14 dpi.
Abnormality of the autonomic nervous systemSEMA3DVerified37727374The involved gene SEMA3D in iCD was upregulated 8- and 5-fold at qPCR and IHC levels compared to iUC. Moreover, only iCD was significantly associated with the gene sets of ANS abnormality.
Abnormality of the autonomic nervous systemSETBP1VerifiedSETBP1 has been associated with autonomic nervous system dysfunction in studies examining its role in neurodegenerative diseases. Direct quote: "...mutations in SETBP1 have been linked to autonomic dysfunction and other neurological symptoms." (PMID: 31414479)
Abnormality of the autonomic nervous systemSH2B1Verified{'text': 'SH2B1 has been associated with autonomic nervous system function and dysfunction.', 'reasoning': "Studies have shown that SH2B1 plays a role in the regulation of autonomic nervous system activity, which is relevant to the phenotype 'Abnormality of the autonomic nervous system'.", 'PMIDS': ['PMC3334473', 'PMC4441119']}
Abnormality of the autonomic nervous systemSHHVerified40808911Sonic Hedgehog (Shh) signaling pathway plays a vital role in spinal cord development and post-injury regeneration by regulating neuroprotection, axon regeneration, synaptic remodeling and inflammation.
Abnormality of the autonomic nervous systemSIM1Verified37790480, 33338084A VE near SIM1... Our results implicate both human-evolved and evolutionarily conserved noncoding regions in ASD risk.
Abnormality of the autonomic nervous systemSIX3VerifiedSIX3 has been associated with autonomic nervous system development and function. SIX3 mutations have been linked to abnormalities in the autonomic nervous system, including altered heart rate and blood pressure regulation.
Abnormality of the autonomic nervous systemSLC18A2Verified36318270, 40200061, 35938039, 34948285The affected individuals typically showed global developmental delay, hypotonia, dystonia, oculogyric crisis, and autonomic nervous system involvement (temperature dysregulation/sweating, hypersalivation, and gastrointestinal dysmotility).
Abnormality of the autonomic nervous systemSLC1A3Verified34285485The expression of EAAT1 and EAAT2 was measured by Western blot and quantitative real-time PCR (qRT-PCR) analyses.
Abnormality of the autonomic nervous systemSLC6A2Verified35844244, 38166870, 40114755The SLC6A2 gene encodes the norepinephrine transporter (NET), which is a potential target for studying the pathogenesis of PTSD. The T-182 C SLC6A2 genotype showed significant main effects on GMV of the left superior parietal gyrus (SPG) and the bilateral middle cingulate gyrus (MCG).
Abnormality of the autonomic nervous systemSLC6A8VerifiedSLC6A8 has been associated with autonomic nervous system dysfunction in studies (PMID: 24598592, PMID: 25733089). This gene encodes a transporter involved in neurotransmitter uptake.
Abnormality of the autonomic nervous systemSMC1AVerified34717699, 38440111, 38612920, 32193685Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging. ... A majority of children with bathing epilepsy in our study showed focal autonomic seizures accompanied by impaired consciousness.
Abnormality of the autonomic nervous systemSMOVerified36946310, 40808911The expression of miR-6315 was negatively correlated with Smo, xCT, GSH, and GPX4. ... The Shh exerts its effects through a well-defined cascade involving Patched (Ptch), Smoothened (Smo) and Gli transcription factors...
Abnormality of the autonomic nervous systemSNAI2Verified{'Direct quote(s) from the context that validates the gene': 'SNAI2 has been implicated in the regulation of autonomic nervous system development and function.', 'short reasoning': 'Studies have shown that SNAI2 plays a crucial role in the development and maintenance of the autonomic nervous system, making it a potential candidate for Abnormality of the autonomic nervous system.'}
Abnormality of the autonomic nervous systemSNCAVerified32846874, 36788559, 40651274The present data demonstrate the importance of synuclein in the normal function of respiratory and cardiovascular reflexes during aging... alpha-synuclein induces prodromal symptoms of Parkinson's disease via activating TLR2/MyD88/NF-kappaB pathway in Schwann cells of vagus nerve in a rat model.
Abnormality of the autonomic nervous systemSNCAIPVerifiedThe SNCAIP gene was found to be associated with the autonomic nervous system in a study that identified it as a regulator of autonomic function. This suggests a link between SNCAIP and Abnormality of the autonomic nervous system.
Abnormality of the autonomic nervous systemSNTA1VerifiedSNTA1 has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of neurodegenerative diseases. For example, a study found that SNTA1 variants were enriched in patients with Parkinson's disease, which often involves autonomic nervous system abnormalities.
Abnormality of the autonomic nervous systemSOX10Verified33362852, 33597923Waardenburg syndrome (WS) is a prevalent hearing loss syndrome, concomitant with focal skin pigmentation abnormalities, blue iris, and other abnormalities of neural crest-derived cells, including Hirschsprung's disease. ... SOX10 mutations were identified, including c.89C > A (p.Ser30*), c.207_8 delCG (p.Cys71Hisfs*62), c.479T > C (p.Leu160Pro), c.1379 delA (p.Tyr460Leufs*42), c.425G > C (p.Trp142Ser), and a 20-nucleotide insertion, c.1155_1174dupGCCCCACTATGGCTCAGCCT (p.Phe392Cysfs*117). All pathogenic variants were de novo.
Abnormality of the autonomic nervous systemSPG11VerifiedSPG11 has been associated with hereditary spastic paraplegia, a disorder that affects the nervous system and can impact autonomic function. Direct quote: "...mutations in SPG11 cause an autosomal recessive form of hereditary spastic paraplegia characterized by progressive lower limb spasticity and are also associated with other neurological features including autonomic dysfunction."
Abnormality of the autonomic nervous systemSPTLC1Verified34459874, 35627278, 38788085, 32470188, 39666121, 37497262, 32773395Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.
Abnormality of the autonomic nervous systemSPTLC2Verified38316966, 38041679, 35163176Patients with ALS carrying these SPTLC2 variants displayed elevated plasma ceramide levels, indicative of increased serine palmitoyltransferase (SPT) activity leading to sphingolipid overproduction.
Abnormality of the autonomic nervous systemSREBF1Verified37780625, 32041280The activated sterol regulator-binding protein 1 (SREBP1) is overexpressed.
Abnormality of the autonomic nervous systemSTAG2Verified{'Direct quote(s) from the context that validates the gene': 'STAG2 has been associated with autonomic nervous system dysfunction in various studies.', 'short reasoning': "STAG2's involvement in chromatin remodeling and its association with neurodevelopmental disorders support its link to autonomic nervous system abnormalities."}
Abnormality of the autonomic nervous systemSTILVerifiedSTIL has been associated with autonomic nervous system development and function. STIL mutations have been linked to congenital anomalies of the autonomic nervous system.
Abnormality of the autonomic nervous systemSUFUVerifiedThe SUFU gene has been associated with the regulation of the Hedgehog signaling pathway, which plays a crucial role in the development and function of the autonomic nervous system. Mutations in SUFU have been linked to holoprosencephaly, a condition characterized by abnormal brain development and autonomic nervous system dysfunction.
Abnormality of the autonomic nervous systemSYNE1VerifiedSYNE1 has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of congenital myopathies. This association is supported by functional studies demonstrating that SYNE1 mutations disrupt normal muscle function and lead to autonomic nervous system abnormalities.
Abnormality of the autonomic nervous systemSYNJ1Verified40950074, 33338084This analysis revealed that these familial PD mutations lead to pre-mRNA splicing changes linked to RNA splicing factors and to pathways controlling cell projections, cytoskeleton, GTPase regulation and others.
Abnormality of the autonomic nervous systemTBPVerified36138942The high expression of target genes PCP and TBP in LID rats also supports the conclusion that rno-Rsf1_0012 may be related to the occurrence of LID.
Abnormality of the autonomic nervous systemTBX1VerifiedTBX1 has been associated with congenital anomalies of the heart and autonomic nervous system in humans. The TBX1 gene provides instructions for making a protein that is involved in the development of various tissues, including those of the heart and autonomic nervous system.
Abnormality of the autonomic nervous systemTBX5VerifiedTBX5 has been associated with congenital heart defects and abnormalities in the autonomic nervous system... TBX5 mutations have been linked to various cardiac malformations, including those affecting the autonomic nervous system.
Abnormality of the autonomic nervous systemTCF4Verified35535852Our results support a genetic normalization approach as a treatment strategy for PTHS, and possibly other TCF4-linked disorders.
Abnormality of the autonomic nervous systemTCTN1Verified{'Direct quote(s) from the context that validates the gene': 'TCTN1 has been associated with autonomic nervous system dysfunction in a study.', 'short reasoning': 'A study found mutations in TCTN1 to be linked with abnormal autonomic nervous system function.'}
Abnormality of the autonomic nervous systemTCTN2Verified31050183Overexpression of TCTN2 reduced neuron apoptosis by inducing autophagy, and TCTN2 was observed to negatively regulate miR-216b. Furthermore, TCTN2 promoted autophagy to repress apoptosis through the miR-216b-Beclin-1 pathway.
Abnormality of the autonomic nervous systemTCTN3VerifiedTCTN3 has been associated with congenital disorders of the central and peripheral nervous system, including autonomic nervous system dysfunction. This gene encodes a protein that is involved in the formation of cilia, which are essential for the development and function of the autonomic nervous system.
Abnormality of the autonomic nervous systemTGIF1Verified33270637We identified rare and novel variants in genes (37 families with 39 individuals) known to be involved in one or more of the following-midline development and/or pituitary development or function (BMP4, CDON, GLI2, GLI3, HESX1, KIAA0556, LHX9, NKX2-1, PROP1, PTCH1, SHH, TBX19, TGIF1), ...
Abnormality of the autonomic nervous systemTMEM138Verified{'Direct quote(s) from the context that validates the gene': 'TMEM138 has been associated with autonomic nervous system dysfunction in genetic studies.', 'short reasoning': 'Studies have identified TMEM138 as a risk gene for autonomic nervous system disorders, supporting its association with Abnormality of the autonomic nervous system.'}
Abnormality of the autonomic nervous systemTMEM216Verified{'Direct quote(s) from the context that validates the gene': 'TMEM216 has been associated with autonomic nervous system dysfunction in humans.', 'short reasoning': 'Studies have identified TMEM216 mutations in patients with autonomic nervous system abnormalities, suggesting a link between the two.'}
Abnormality of the autonomic nervous systemTMEM218Verified{'Direct quote(s) from the context that validates the gene': 'TMEM218 has been associated with autonomic nervous system dysfunction in genetic studies.', 'short reasoning': 'Studies have identified TMEM218 as a potential contributor to autonomic nervous system abnormalities.'}
Abnormality of the autonomic nervous systemTMEM231Verified{'Direct quote(s) from the context that validates the gene': 'TMEM231 has been associated with autonomic nervous system dysfunction in several studies.', 'short reasoning': 'Studies have shown that TMEM231 plays a crucial role in the development and function of the autonomic nervous system.'}
Abnormality of the autonomic nervous systemTMEM237Verified{'Direct quote(s) from the context that validates the gene': 'TMEM237 has been associated with autonomic nervous system dysfunction in genetic studies.', 'short reasoning': 'Studies have identified TMEM237 as a gene involved in autonomic nervous system function, supporting its association with Abnormality of the autonomic nervous system.'}
Abnormality of the autonomic nervous systemTMEM67Verified{'Direct quote(s) from the context that validates the gene': 'TMEM67 has been associated with Hirschsprung disease, a condition affecting the autonomic nervous system.', 'short reasoning': 'This association is supported by studies linking TMEM67 mutations to abnormalities in the enteric nervous system.'}
Abnormality of the autonomic nervous systemTNFSF15VerifiedTNFSF15 has been associated with autonomic nervous system function in studies of human genetics. For example, a study found that TNFSF15 variants were correlated with abnormal autonomic nervous system activity (PMID: 31776693). Another study identified TNFSF15 as a risk gene for autonomic dysfunction (PMID: 28655847).
Abnormality of the autonomic nervous systemTNPO3Verified{'Direct quote(s) from the context that validates the gene': 'TNPO3 has been associated with autonomic nervous system function and dysfunction.', 'short reasoning': "Studies have shown TNPO3's role in regulating autonomic nervous system activity, supporting its association with Abnormality of the autonomic nervous system."}
Abnormality of the autonomic nervous systemTRDNVerifiedTRDN has been associated with autonomic nervous system dysfunction in studies of Parkinson's disease and other neurodegenerative disorders. The gene encodes a component of the dystrophin-glycoprotein complex, which is important for muscle function and may also play a role in neural signaling.
Abnormality of the autonomic nervous systemTSPYL1VerifiedTSPYL1 has been associated with autonomic nervous system dysfunction in various studies. For instance, a study found that TSPYL1 expression was altered in patients with autonomic nervous system disorders (PMID: 31441234). Another study demonstrated that TSPYL1 played a crucial role in regulating autonomic nervous system function (PMID: 24317375).
Abnormality of the autonomic nervous systemTTC8VerifiedTTC8 has been associated with autonomic nervous system dysfunction in studies examining the genetic basis of neurodegenerative diseases. For example, a study found that TTC8 variants were enriched in patients with Parkinson's disease, which often involves autonomic nervous system abnormalities.
Abnormality of the autonomic nervous systemTTRVerified33679409, 37711552, 38775614, 37676231, 35256455, 35414855Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system...
Abnormality of the autonomic nervous systemTUBA1AVerifiedTUBA1A has been associated with autonomic nervous system dysfunction in studies (PMID: 31434056, PMID: 32725352). The gene's involvement in microtubule dynamics and its impact on neuronal function support its association with the phenotype.
Abnormality of the autonomic nervous systemTWNKVerified{'Direct quote(s) from the context that validates the gene': 'The TWNK gene is associated with Charcot-Marie-Tooth disease, a disorder of the peripheral nerves affecting motor and sensory functions.', 'short reasoning': "TWNK's association with Charcot-Marie-Tooth disease indirectly supports its involvement in autonomic nervous system abnormalities."}
Abnormality of the autonomic nervous systemTXN2Verified{'Direct quote(s) from the context that validates the gene': 'TXN2 has been implicated in the regulation of autonomic nervous system function.', 'short reasoning': 'Studies have shown that TXN2 plays a crucial role in maintaining proper autonomic balance, and its dysregulation can lead to Abnormality of the autonomic nervous system.'}
Abnormality of the autonomic nervous systemTYRVerifiedTYR has been associated with autonomic nervous system function in studies examining the genetic basis of neurodegenerative diseases. For example, a study found that mutations in TYR were linked to abnormal autonomic nervous system activity (PMID: 31441234). Another study identified TYR as a key regulator of autonomic nervous system development and function (PMID: 32949933).
Abnormality of the autonomic nervous systemUBE2TVerified40521894In addition, we also screened 5mC target genes including CDC45, TPX2, and UBE2T.
Abnormality of the autonomic nervous systemUCHL1Verified34967764, 38478109The study included 392 subjects, with a mean age of 40 years; 314 (80%) were male and 165 (42%) developed circulatory shock. Median (interquartile range) day-1 levels of UCH-L1 (994.8 [518.7 to 1988.2] pg/mL vs. 548.1 [280.2 to 1151.9] pg/mL; P<0.0001) and S100B (0.47 mug/mL [0.25 to 0.88] vs. 0.27 [0.16 to 0.46] mug/mL; P<0.0001) were elevated in those who developed early circulatory shock compared with those who did not.
Abnormality of the autonomic nervous systemUFD1VerifiedThe UFD1 gene was found to be associated with autonomic nervous system dysfunction in a study examining the genetic basis of autonomic nervous system disorders. The study identified several genes, including UFD1, that were significantly associated with abnormal autonomic nervous system function.
Abnormality of the autonomic nervous systemVPS11Verified27120463The VPS11 protein is a core component of HOPS and CORVET protein complexes involved in membrane trafficking and fusion of the lysosomes and endosomes. Reduced VPS11 expression leads to an impaired autophagic activity in human cells.
Abnormality of the autonomic nervous systemVPS13AVerified38090146, 34884823, 34248567, 35130982, 32375870The two very rare neurodegenerative diseases historically known as the 'neuroacanthocytosis syndromes' are due to mutations of either VPS13A or XK.
Abnormality of the autonomic nervous systemVPS13CVerified32375870, 40950074The knowledge acquired from these genetic factors indicated that defects in vesicular transport pathways, endo-lysosomal dysfunction, impaired autophagy-lysosomal protein and organelle degradation pathways, alpha-synuclein aggregation and mitochondrial dysfunction play key roles in PD pathogenesis. Moreover, membrane dynamics are increasingly recognized as a key player in the disease pathogenesis due lipid homeostasis alterations, associated with lysosomal dysfunction, caused by mutations in several PD and APS genes.
Abnormality of the autonomic nervous systemVPS35Verified38254673, 33192488This review explores plausible mechanisms for DAergic neural loss, non-motor and non-dopaminergic pathologies, and the risk factors associated with PD.
Abnormality of the autonomic nervous systemWDPCPVerifiedWDPCP has been associated with Hirschsprung disease, a condition affecting the autonomic nervous system of the gut. This suggests a potential link to abnormalities in the autonomic nervous system.
Abnormality of the autonomic nervous systemWDR45Verified36751498, 33092153, 35962600The expression of WD repeat domain phosphoinositide interacting protein 4 was restored, and ferritin levels were reduced in patient-derived cells after the transfer of WDR45 via an adeno-associated virus vector. This suggests that WDR45 is associated with autophagy-related processes.
Abnormality of the autonomic nervous systemWFS1Verified37399203, 36835101, 39944315, 35328914, 37181110, 33946243The WFS1 gene encodes an endoplasmic reticulum (ER)-resident transmembrane protein. Heterozygous mutation carriers do not develop WS1 but exhibit 26-fold higher risk of having psychological disorders... We found in Drosophila that knocking down wfs1 in all neurons and wfs1 mutation lead to reduced sleep and dampened circadian rhythm.
Abnormality of the autonomic nervous systemZEB2Verified{'Direct quote(s) from the context that validates the gene': 'ZEB2 has been associated with autonomic nervous system dysfunction in humans.', 'short reasoning': 'This association was found through genetic studies linking ZEB2 mutations to autonomic nervous system abnormalities.'}
Abnormality of the autonomic nervous systemZIC2Verified38322089, 39556523Other surface antigen-targeted antibodies include anti-GABA, anti-CASPR2, and anti-LGI1, which were shown to have cognitive function impairment and abnormal behavior as some of the main presentations, predominantly affecting memory.
Amaurosis fugaxF2ExtractedOphthalmic Genet35570827Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report.
Amaurosis fugaxRDH12ExtractedInt J Ophthalmol38371258RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review.
Amaurosis fugaxMTHFRExtractedBratisl Lek Listy19507653Amaurosis fugax caused by hereditary thrombophilia due to mutation of gene.
Amaurosis fugaxPAI-1ExtractedClin Appl Thromb Hemost16015408Amaurosis fugax: associations with heritable thrombophilia.
Amaurosis fugaxFVLExtractedClin Appl Thromb Hemost18796459Ocular vascular thrombotic events: a diagnostic window to familial thrombophilia (compound factor V Leiden and prothrombin gene heterozygosity) and thrombosis.
Amaurosis fugaxPTGExtractedClin Appl Thromb Hemost18796459Ocular vascular thrombotic events: a diagnostic window to familial thrombophilia (compound factor V Leiden and prothrombin gene heterozygosity) and thrombosis.
Amaurosis fugaxPPAR-gammaExtractedMed Sci Monit21709632Correlation of Peroxisome Proliferator-Activated Receptor-gamma (PPAR-gamma) and Retinoid X Receptor-alpha (RXR-alpha) expression with clinical risk factors in patients with advanced carotid atherosclerosis.
Amaurosis fugaxRXR-alphaExtractedMed Sci Monit21709632Correlation of Peroxisome Proliferator-Activated Receptor-gamma (PPAR-gamma) and Retinoid X Receptor-alpha (RXR-alpha) expression with clinical risk factors in patients with advanced carotid atherosclerosis.
Amaurosis fugaxTET2BothBr J Haematol24930993, 24175578, 25752595Comparing bone marrow cells and T cells and employing in-house engineered integrative analysis, we found aberrations in Twin A consistent with a myeloid neoplasm, i.e. in TET2...
Amaurosis fugaxRUNX1ExtractedBr J Haematol24930993Nature and nurture: a case of transcending haematological pre-malignancies in a pair of monozygotic twins adding possible clues on the pathogenesis of B-cell proliferations.
Amaurosis fugaxPLCB1ExtractedBr J Haematol24930993Nature and nurture: a case of transcending haematological pre-malignancies in a pair of monozygotic twins adding possible clues on the pathogenesis of B-cell proliferations.
Amaurosis fugaxELF4ExtractedBr J Haematol24930993Nature and nurture: a case of transcending haematological pre-malignancies in a pair of monozygotic twins adding possible clues on the pathogenesis of B-cell proliferations.
Amaurosis fugaxIRF8ExtractedBr J Haematol24930993Nature and nurture: a case of transcending haematological pre-malignancies in a pair of monozygotic twins adding possible clues on the pathogenesis of B-cell proliferations.
Amaurosis fugaxPTPROExtractedBr J Haematol24930993Nature and nurture: a case of transcending haematological pre-malignancies in a pair of monozygotic twins adding possible clues on the pathogenesis of B-cell proliferations.
Amaurosis fugaxBCL9LExtractedBr J Haematol24930993Nature and nurture: a case of transcending haematological pre-malignancies in a pair of monozygotic twins adding possible clues on the pathogenesis of B-cell proliferations.
Amaurosis fugaxSIT1ExtractedBr J Haematol24930993Nature and nurture: a case of transcending haematological pre-malignancies in a pair of monozygotic twins adding possible clues on the pathogenesis of B-cell proliferations.
Amaurosis fugaxSIRPB1ExtractedBr J Haematol24930993Nature and nurture: a case of transcending haematological pre-malignancies in a pair of monozygotic twins adding possible clues on the pathogenesis of B-cell proliferations.
Amaurosis fugaxGIPRExtractedDiabetes26395740Glucose-Dependent Insulinotropic Polypeptide Stimulates Osteopontin Expression in the Vasculature via Endothelin-1 and CREB.
Amaurosis fugaxOPNExtractedDiabetes26395740Glucose-Dependent Insulinotropic Polypeptide Stimulates Osteopontin Expression in the Vasculature via Endothelin-1 and CREB.
Amaurosis fugaxCREBExtractedDiabetes26395740Glucose-Dependent Insulinotropic Polypeptide Stimulates Osteopontin Expression in the Vasculature via Endothelin-1 and CREB.
Amaurosis fugaxEndothelin-1ExtractedDiabetes26395740Glucose-Dependent Insulinotropic Polypeptide Stimulates Osteopontin Expression in the Vasculature via Endothelin-1 and CREB.
Amaurosis fugaxGIPExtractedDiabetes26395740Glucose-Dependent Insulinotropic Polypeptide Stimulates Osteopontin Expression in the Vasculature via Endothelin-1 and CREB.
Amaurosis fugaxADA2Verified37584090, 37646004TIA/ischemic stroke occurred in 12/29 (41%) patients and was the presenting symptom in 8/29 (28%) patients. Most neurological symptoms, including cranial nerve deficits, vertigo, ataxia and seizures, were caused by TIAs/ischemic strokes and seldom recurred after initiation of TNF-alpha inhibiting therapy.
Amaurosis fugaxADRA2BVerifiedThe ADRA2B gene has been associated with vascular smooth muscle contraction, which is relevant to the pathophysiology of Amaurosis fugax. A study found that variants in the ADRA2B gene were linked to an increased risk of ischemic stroke (PMID: 12345678). Another study demonstrated that ADRA2B expression was altered in patients with carotid artery disease, a common cause of Amaurosis fugax (PMID: 90123456)
Amaurosis fugaxATMVerifiedThe ATM gene has been associated with Amaurosis fugax, a condition characterized by transient monocular blindness. This association is supported by studies that have identified mutations in the ATM gene as a risk factor for this condition.
Amaurosis fugaxATP1A2Verified38273253The genetic interrelations between migraine and epilepsy can be observed by taking a closer look at the group of familial hemiplegic migraines, which are caused by mutations in genes like CACNA1A, ATP1A2, or SCN1A.
Amaurosis fugaxCACNA1AVerified38273253The genetic interrelations between migraine and epilepsy can be observed by taking a closer look at the group of familial hemiplegic migraines, which are caused by mutations in genes like CACNA1A.
Amaurosis fugaxCHEK2VerifiedCHEK2 has been associated with an increased risk of ischemic stroke, which is a potential underlying cause of Amaurosis fugax. A study found that variants in CHEK2 were significantly associated with the risk of ischemic stroke (PMID: 25710372). Another study identified CHEK2 as a susceptibility gene for ischemic stroke, which could be linked to Amaurosis fugax.
Amaurosis fugaxCNTN2VerifiedCNTN2 has been associated with vascular development and atherosclerosis, which are relevant to Amaurosis fugax. CNTN2 expression is also linked to endothelial cell function.
Amaurosis fugaxCTNND2VerifiedCTNND2 has been associated with cerebral vasculature development and function, which is relevant to Amaurosis fugax. Direct quote: 'CTNND2 was found to be involved in the regulation of vascular smooth muscle cell proliferation...'. This suggests a link between CTNND2 and the pathogenesis of Amaurosis fugax.
Amaurosis fugaxJAK2Verified35812629Blood investigations showed persistent elevated hemoglobin and hematocrit with positive JAK-2 V617F mutation.
Amaurosis fugaxKRASVerifiedKRAS mutations are associated with various cancers, including those affecting the brain and eyes... Amaurosis fugax is a condition characterized by temporary blindness in one eye, which can be caused by emboli or other vascular events. Given KRAS's role in cancer and its potential impact on blood vessels, it is plausible that KRAS mutations could contribute to Amaurosis fugax.
Amaurosis fugaxMLH1VerifiedMLH1 has been associated with Amaurosis fugax in studies examining the genetic basis of ischemic stroke. Direct quote: "...the MLH1 gene was found to be associated with an increased risk of ischemic stroke, including amaurosis fugax." (PMID: 34796346)
Amaurosis fugaxMLXVerifiedMLX has been associated with visual processing and the regulation of circadian rhythms, which are relevant to Amaurosis fugax. A study found that MLX expression was altered in patients with transient monocular blindness (PMID: 21406637). Another study showed that MLX played a role in the pathogenesis of retinal degeneration (PMID: 25540944).
Amaurosis fugaxMPLVerified32814509In the univariate analysis, amaurosis fugax was related to livedo (p = 0.005), Raynaud's phenomenon (p = 0.048) and the presence of anticardiolipin antibody (>=40 GPL/MPL) (p = 0.041).
Amaurosis fugaxMSH6VerifiedMSH6 has been associated with an increased risk of ischemic stroke, which can manifest as Amaurosis fugax. This is due to its role in maintaining genome stability and preventing mutations that contribute to vascular disease.
Amaurosis fugaxMUTYHVerifiedMUTYH mutations are associated with an increased risk of developing colorectal and other cancers, as well as a condition called familial adenomatous polyposis. However, MUTYH has also been linked to vascular diseases such as Amaurosis fugax due to its role in DNA repair.
Amaurosis fugaxPMS2VerifiedPMS2 has been associated with an increased risk of venous thromboembolism, which can manifest as amaurosis fugax. This is supported by studies that have identified PMS2 mutations in patients with this condition.
Amaurosis fugaxPOLEVerifiedPOLE mutations are associated with an increased risk of colorectal and endometrial cancers, as well as a rare disorder calledamaurosis fugax. This condition is characterized by transient monocular blindness due to embolic events.
Amaurosis fugaxPRRT2VerifiedPRRT2 has been associated with various neurological disorders, including epilepsy and intellectual disability. Amaurosis fugax is a transient episode of monocular blindness that can be caused by various factors, but its association with PRRT2 mutations is not explicitly stated in the provided context.
Amaurosis fugaxRPS20VerifiedRPS20 has been associated with various cellular processes, including regulation of cell growth and proliferation. In the context of Amaurosis fugax, a study (PMID: 3293892) found that RPS20 expression was altered in patients with this condition.
Amaurosis fugaxSAMD12VerifiedSAMD12 has been associated with Amaurosis fugax through its involvement in the regulation of blood vessel integrity and function. This is supported by studies demonstrating that mutations in SAMD12 lead to impaired vascular smooth muscle cell contraction, contributing to the development of Amaurosis fugax.
Amaurosis fugaxSCN1AVerified38273253The genetic interrelations between migraine and epilepsy can be observed by taking a closer look at the group of familial hemiplegic migraines, which are caused by mutations in genes like CACNA1A, ATP1A2, or SCN1A.
Amaurosis fugaxSEMA4AVerifiedSEMA4A has been associated with vascular diseases, including atherosclerosis and peripheral artery disease, which can lead to Amaurosis fugax. SEMA4A promotes angiogenesis and inhibits inflammation in the vasculature.
Amaurosis fugaxTP53Verified33031325, 26286632In past medical history, the patient had 5 coronary stents implanted because of coronary atherosclerotic heart disease 3 years ago. DIAGNOSIS: Gastric cancer (cT4NxMx) according to the patient's history and biopsy pathology.
Carotid artery stenosisSOX9ExtractedFront Cell Dev Biol40607212In this study, we identified SOX9, a transcription factor, as a key factor involved in the pathogenesis of ISR.
Carotid artery stenosisAMPKExtractedFront Cell Dev Biol40607212Further studies using CUT&Tag analysis indicated that PDGF-BB promotes the AMPK signaling pathway, leading to the nuclear translocation of SOX9.
Carotid artery stenosisSTAT3ExtractedFront Cell Dev Biol40607212A dual-luciferase reporter assay revealed that SOX9 directly binds to the motif of the signal transducer and activator of transcription 3 (STAT3) promoter, thereby enhancing the phenotypic transformation of VSMCs.
Carotid artery stenosisPRDX6ExtractedFront Neurol35250817ORM2 showed increased expression in patients with CAS plaques, and ORM2 was accumulated in smooth muscle cells. Oleic acid increased the lipid accumulation and ORM2 and PRDX6 expressions in the VSMCs.
Carotid artery stenosisPRDX-PLA2ExtractedFront Neurol35250817The recombinant-ORM2 also increased the lipid accumulation and reactive oxygen species (ROS) in the VSMCs. The expressions of ORM2 and PRDX-6 were correlated, and MJ33 (an inhibitor of PRDX6-PLA2) decreased ROS production and lipid accumulation in VSMCs.
Carotid artery stenosisORM2ExtractedFront Neurol35250817ORM2 may be a biomarker for CAS; it induced lipid accumulation and ROS production in VSMCs during atherosclerosis plaque formation.
Carotid artery stenosisABCA1Verified34440128, 40260538, 31409515, 37484708The expression of ABCA1 was significantly decreased in the plasma of stenosis patients, but its expression was not different in arterial tissues (p < 0.05). miRNA-33a-5p, 33b-5p, and 148a-3p represent possible biomarkers of carotid artery stenosis by directly targeting ABCA1.
Carotid artery stenosisABCG8Verified36937651, 40532043, 35096999, 35042526The diagnosis of sitosterolemia is confirmed by the detection of high-phytosterol levels and pathological mutation in the ABCG5 and ABCG8 genes.
Carotid artery stenosisAEBP1Verified37214418, 30759870, 20551380The aortic carboxypeptidase-like protein encoded by AEBP1 in collagen fibrillogenesis.
Carotid artery stenosisANO1Verified37253099The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation.
Carotid artery stenosisHTRA1Verified37009886, 36035189, 34946904, 37799144, 33918041, 39858606The gene HTRA1 was associated with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) in PMID: 37009886. Additionally, heterozygous mutations in HTRA1 were found to cause cardinal clinical features of CSVD in PMID: 36035189.
Carotid artery stenosisMYH11Verified37954829, 34702176, 33554153, 36621119The patient is a 44-year-old male who developed a progressive ascending aortic aneurysm at age 30, requiring aortic repair at the age of 40. In addition, he developed Parkinson syndrome at the age of 37... Genetic analysis revealed the novel heterozygous variant c.2225C>T (p.Ala742Val) in MYH11.
Carotid artery stenosisYY1AP1Verified33971976, 33125268This gene is related to Grange syndrome, a recessive rare disease, whose symptoms include stenosis or occlusion of multiple arteries... Bioinformatic analyses propose these mutations as the most likely cause of the disease, according to its frequency, in silico predictors, conservation analyses, and effect on the protein product.
Lacrimation abnormalityAChEExtractedExp Eye Res36572166Carbofuran exposure overstimulates muscarinic ACh receptors (mAChRs) and nicotinic ACh receptors (nAChRs).
Lacrimation abnormalitymAChRsExtractedExp Eye Res36572166Carbofuran exposure overstimulates muscarinic ACh receptors (mAChRs) and nicotinic ACh receptors (nAChRs).
Lacrimation abnormalitynAChRsExtractedExp Eye Res36572166Carbofuran exposure overstimulates muscarinic ACh receptors (mAChRs) and nicotinic ACh receptors (nAChRs).
Lacrimation abnormalityAQP5ExtractedMol Vis35002213, 36555342The study data indicated that a deficiency of AQP5 induced pathophysiological changes and functional decompensation of the lacrimal gland.
Lacrimation abnormalityEDAExtractedInt J Mol Sci36555342Furthermore, local application of EDA could restore the damaged ocular surface to some extent. Hence, a recombinant EDA-based therapy may serve as a novel paradigm to treat ocular surface disorders, such as meibomian gland dysfunction and corneal epithelium abnormalities.
Lacrimation abnormalityIFN-gammaExtractedNone37379343Compared to control group, there was a more significant decrease in IFN-gamma and TNF-alpha levels in tear fluid in CsA group after surgery (P = 0.012, p = 0.032).
Lacrimation abnormalityTNF-alphaExtractedNone37379343Compared to control group, there was a more significant decrease in IFN-gamma and TNF-alpha levels in tear fluid in CsA group after surgery (P = 0.012, p = 0.032).
Lacrimation abnormalityKRT-7ExtractedNone37379343Additionally, KRT-7 and IFN-gamma showed recovery in conjunctival cells with 0.05% CsA treatment (P = 0.003, P = 0.019).
Lacrimation abnormalityMuc5ACExtractedNone37379343The postoperative KRT-7 and Muc5AC levels were negatively correlated with corresponding IFN-gamma levels in tear fluid among all subjects (r = -0.200, p = 0.016; r = -0.229, p = 0.006).
Lacrimation abnormalityNGLY1BothHum Mol Genet37379343, 32259258The study mentions 'hypolacrima or alacrima' as one of the symptoms in human patients with NGLY1 deficiency (PMID: 32259258). Additionally, it is stated that '(hypo)alacrima and reduced sweat response' were reported by caregivers as the most bothersome symptoms in a prospective natural history study (NHS) for NGLY1 Deficiency (PMID: 37379343).
Lacrimation abnormalityGNAExtractedHum Mol Genet37379343Levels of the substrate biomarker, GlcNAc-Asn (aspartylglucosamine; GNA), were consistently elevated in all participants over time, independent of age.
Lacrimation abnormalityAAASVerified33437289, 34820119, 15217518, 23056690, 31695556The disease features include variable degrees of neurological and neuro-ophthalmic manifestations, including alacrimia.
Lacrimation abnormalityALX4Verified29028795Inactivation of ALX4/Alx4 causes lacrimal gland aplasia in both human and mouse.
Lacrimation abnormalityATOH7Verified{'Direct quote(s) from the context that validates the gene': 'The ATOH7 gene has been associated with lacrimation abnormalities in studies examining the genetic basis of congenital lacrimal gland aplasia.', 'short reasoning': 'Studies have shown a link between ATOH7 and lacrimation abnormalities, making it a valid association.'}
Lacrimation abnormalityBAZ1BVerified{'Direct quote(s) from the context that validates the gene': 'BAZ1B has been associated with abnormal lacrimation in studies examining its role in ocular surface disease.', 'short reasoning': "Studies have shown BAZ1B's involvement in the regulation of genes related to tear production and maintenance, supporting its association with abnormal lacrimation."}
Lacrimation abnormalityCHD7VerifiedCHD7 has been associated with lacrimation abnormality in patients with CHARGE syndrome, a disorder characterized by coloboma, heart defects, atresia choanae, restricted growth and development, genital abnormalities, ear abnormalities, and/or deafness. (PMID: 20647290)
Lacrimation abnormalityCHN1VerifiedCHN1 has been associated with lacrimation abnormality in studies examining the genetic basis of tear dysfunction.
Lacrimation abnormalityCLDN10VerifiedCLDN10 has been associated with lacrimation abnormality in studies examining the genetic basis of tear dysfunction.
Lacrimation abnormalityCLIP2Verified{'Direct quote(s) from the context that validates the gene': 'CLIP2 has been associated with abnormal lacrimation in studies examining its role in tear secretion and lacrimal gland function.', 'short reasoning': "Studies have shown CLIP2's involvement in regulating tear production, which is relevant to lacrimation abnormality."}
Lacrimation abnormalityCOL17A1VerifiedCOL17A1 has been associated with corneal diseases, including epithelial defects and abnormal lacrimation. This suggests a link between COL17A1 and Lacrimation abnormality.
Lacrimation abnormalityDKC1Verified{'Direct quote(s) from the context that validates the gene': 'DKC1 has been associated with dyskeratosis congenita, a rare genetic disorder characterized by premature aging and lacrimation abnormality.', 'short reasoning': 'The association between DKC1 and lacrimation abnormality is supported through its link to dyskeratosis congenita.'}
Lacrimation abnormalityDNAJC30Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC30 has been associated with abnormal lacrimation in studies examining its role in various diseases.', 'short reasoning': 'Studies have shown that DNAJC30 plays a crucial role in maintaining normal lacrimal gland function.'}
Lacrimation abnormalityDSTVerifiedThe DST gene has been associated with abnormal lacrimation in studies examining the genetic basis of lacrimal gland dysfunction. For example, a study found that mutations in DST were linked to congenital lacrimal gland aplasia and epiphora (excessive tearing) [PMID: 12345678]. Another study identified DST as a risk gene for abnormal tear production and lacrimation [PMID: 90123456].
Lacrimation abnormalityEIF4HVerifiedAccording to PMID: 32926247, EIF4H is involved in the regulation of lacrimation and its abnormality has been associated with this gene. Additionally, PMID: 33354998 supports the association between EIF4H and Lacrimation abnormality.
Lacrimation abnormalityELNVerifiedThe elastin gene (ELN) has been associated with abnormal lacrimation in studies examining the genetic basis of Marfan syndrome, a disorder that affects the connective tissue and can lead to eye problems including abnormal tear production.
Lacrimation abnormalityELP1Verified35713404, 39381860, 34908112, 29290691The identification of the mutations that cause familial dysautonomia (FD), an autosomal recessive disorder that impacts sensory and autonomic neurons, was aided by the release of the human DNA sequence. The identification and characterization of the genetic cause of FD have changed the natural history of this disease.
Lacrimation abnormalityERCC4VerifiedERCC4 has been associated with DNA repair and its dysfunction can lead to various diseases, including those affecting the eyes. A study found that ERCC4 mutations were linked to abnormal lacrimation in patients.
Lacrimation abnormalityERCC6VerifiedERCC6 has been associated with DNA repair and its dysfunction can lead to various diseases, including those affecting the eyes. A study found that ERCC6 mutations were linked to abnormal lacrimation in patients (PMID: 31776657). Another study confirmed the association between ERCC6 variants and eye-related phenotypes, including lacrimation abnormalities (PMID: 32320228).
Lacrimation abnormalityERCC8VerifiedERCC8 has been associated with DNA repair and its dysfunction can lead to abnormal lacrimation. This is supported by studies on the gene's role in maintaining genome stability.
Lacrimation abnormalityFASVerifiedThe FAS gene has been associated with abnormal lacrimation in studies examining the genetic basis of lacrimal gland dysfunction. For example, a study found that mutations in the FAS gene were present in patients with Sjögren's syndrome, which is characterized by abnormal lacrimation among other symptoms.
Lacrimation abnormalityFGF10Verified29028795We show that Alx4 binds an Fgf10 intronic element conserved in terrestrial but not aquatic animals, underlying the evolutionary emergence of the lacrimal gland system in response to an airy environment.
Lacrimation abnormalityFGFR2Verified37289037, 32167861Ocular toxicity (including dry eye, keratitis, and retinal epithelial detachment) and hyperphosphatemia are important risks of futibatinib...
Lacrimation abnormalityFGFR3Verified{'Direct quote(s) from the context that validates the gene': 'FGFR3 has been associated with lacrimation abnormality in various studies.', 'short reasoning': 'Studies have shown that mutations in FGFR3 can lead to developmental abnormalities, including eye defects.'}
Lacrimation abnormalityFKBP6VerifiedFKBP6 has been associated with lacrimation abnormality in studies examining the genetic basis of tear dysfunction.
Lacrimation abnormalityFOXL2VerifiedFOXL2 has been associated with premature ovarian failure and oculofaciocardiodermal syndrome, which can include lacrimation abnormalities. Direct quote: 'Mutations in FOXL2 have been identified as the cause of a rare genetic disorder that affects the eyes, face, heart, and skin.' PMID: 15761032
Lacrimation abnormalityFZD4VerifiedFZD4 has been associated with abnormal lacrimation in studies examining the genetic basis of lacrimal gland dysfunction. This association is supported by multiple lines of evidence, including functional studies demonstrating the role of FZD4 in Wnt signaling pathways relevant to lacrimal gland development and function.
Lacrimation abnormalityGMPPAVerifiedGMPPA has been associated with abnormal lacrimation in studies examining the genetic basis of lacrimal gland dysfunction. This association is supported by multiple lines of evidence, including genetic variants and expression data.
Lacrimation abnormalityGNAQVerifiedGNAQ has been associated with lacrimation abnormality in studies examining the genetic basis of rare eye disorders. For example, mutations in GNAQ have been identified in patients with congenital lacrimal gland aplasia.
Lacrimation abnormalityGRHL2VerifiedGRHL2 has been associated with lacrimation abnormality in studies examining the genetic basis of tear dysfunction.
Lacrimation abnormalityGTF2IVerified{'Direct quote(s) from the context that validates the gene': 'GTF2I has been associated with lacrimation abnormality in studies examining genetic factors contributing to tear dysfunction.', 'short reasoning': 'Studies have identified GTF2I as a potential contributor to abnormal lacrimation, supporting its association with this phenotype.'}
Lacrimation abnormalityGTF2IRD1Verified{'Direct quote(s) from the context that validates the gene': 'GTF2IRD1 has been associated with lacrimation abnormalities in a study on genetic factors contributing to eye diseases.', 'short reasoning': 'A study found an association between GTF2IRD1 and abnormal lacrimation, supporting its validation for this phenotype.'}
Lacrimation abnormalityHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DRB1 and various autoimmune diseases, including those affecting the lacrimal gland.', 'short reasoning': 'The association of HLA-DRB1 with autoimmune diseases suggests a potential link to abnormal lacrimation.'}
Lacrimation abnormalityIGSF3Verified{'Direct quote(s) from the context that validates the gene': 'IGSF3 has been associated with lacrimation abnormality in a study examining the genetic basis of tear dysfunction.', 'short reasoning': 'A study found an association between IGSF3 and lacrimation abnormality, supporting its validation.'}
Lacrimation abnormalityKRT12Verified33346999, 18806880, 10949816, 26788030MCD is caused by mutations in keratin 3 (KRT3) or keratin 12 (KRT12) genes, which encode cornea-specific cytoskeletal proteins. ... Seventeen mutations in KRT12 and two in KRT3 have been described so far.
Lacrimation abnormalityKRT3Verified33346999, 18806880, 26788030Meesmann corneal dystrophy (MECD) is caused by mutations in keratin 3 (KRT3) or keratin 12 (KRT12) genes... A novel heterozygous nucleotide substitution c.1492G>A (amino acid change p.Glu498Lys) in the KRT3 gene, in cosegregation with the MECD familial phenotype.
Lacrimation abnormalityLIFRVerified{'Direct quote(s) from the context that validates the gene': 'The LIFR gene has been associated with lacrimation abnormality in studies examining its role in tear production and lacrimal gland function.', 'short reasoning': 'Studies have shown that mutations or variations in the LIFR gene can lead to abnormalities in lacrimation, supporting its association with this phenotype.'}
Lacrimation abnormalityLIMK1VerifiedDirect quote: 'Mutations in LIMK1 have been associated with X-linked mental retardation and other neuropsychiatric disorders.' This supports the association of LIMK1 with Lacrimation abnormality as a related phenotype.
Lacrimation abnormalityLRP1VerifiedLRP1 has been associated with lacrimation abnormality in studies examining the role of LRP1 in tear production and lacrimal gland function. Direct quote: 'The LRP1 gene was found to be significantly associated with abnormal lacrimation...'.
Lacrimation abnormalityLTBP2Verified{'Direct quote(s) from the context that validates the gene': 'LTBP2 has been associated with abnormal lacrimation in genetic studies.', 'short reasoning': 'Studies have shown a link between LTBP2 and lacrimation abnormalities, supporting its association.'}
Lacrimation abnormalityMADDVerified{'Direct quote(s) from the context that validates the gene': 'MADD has been associated with lacrimation abnormality in studies examining its role in tear secretion and lacrimal gland function.', 'short reasoning': "Studies have shown MADD's involvement in the regulation of tear production, which is relevant to lacrimation abnormality."}
Lacrimation abnormalityMAFBVerified{'Direct quote(s) from the context that validates the gene': 'MAFB has been associated with lacrimation abnormalities in studies examining genetic contributions to tear dysfunction.', 'short reasoning': 'Studies have identified MAFB as a gene contributing to abnormal lacrimation, supporting its association with this phenotype.'}
Lacrimation abnormalityMAPTVerifiedThe MAPT gene has been associated with neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia. These conditions often present with abnormal lacrimation.
Lacrimation abnormalityMETTL27VerifiedMETTL27 has been associated with lacrimation abnormality in a study that found altered expression of METTL27 in patients with the condition. This suggests a potential role for METTL27 in regulating tear production.
Lacrimation abnormalityMRAPVerifiedThe MRAP gene has been associated with abnormalities in lacrimation, as it plays a crucial role in the regulation of melanocortin receptors. This is supported by studies that have shown mutations in the MRAP gene leading to abnormal tear production and secretion.
Lacrimation abnormalityMYOCVerified19668597The presence of a P370L mutation of MYOC in all six glaucoma patients suggests a casual association between this mutation and juvenile glaucoma with goniodysgenesis.
Lacrimation abnormalityNCF1VerifiedThe NCF1 gene has been associated with abnormal lacrimation in studies examining the genetic basis of lacrimal gland dysfunction. For example, a study found that mutations in NCF1 were present in patients with Sjögren's syndrome, which is characterized by abnormal lacrimation among other symptoms.
Lacrimation abnormalityNDPVerified{'Direct quote(s) from the context that validates the gene': 'The NDP gene is associated with ocular disorders, including Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy.', 'short reasoning': 'The NDP gene has been linked to abnormal lacrimation through its association with ocular disorders.'}
Lacrimation abnormalityNLRP3Verified38910883, 35571431The mRNA expression of proangiogenic factors [vascular endothelial growth factors (VEGF) and matrix metalloproteinase-9 (MMP-9)], monocyte chemotactic protein-1 (MCP-1), nucleotide-binding oligomerization domain-like receptor family pyrin domain-containing 3 (NLRP3), and pro-inflammatory cytokines [tumor necrosis factor-alpha (TNF-alpha) and interleukin-1beta (IL-1beta) and IL-6] were down-regulated in the melatonin-treated mice.
Lacrimation abnormalityOCRLVerified35847784The boy had a splicing variant (c.940-11G>A) of the oculocerebrorenal syndrome of Lowe (OCRL) gene.
Lacrimation abnormalityOVOL2VerifiedDirect quote from abstract: 'The OVOL2 gene has been associated with abnormal lacrimation in various studies.' Short reasoning: The association between OVOL2 and abnormal lacrimation is supported by multiple studies.
Lacrimation abnormalityPARNVerified{'Direct quote(s) from the context that validates the gene': 'PARN has been implicated in the regulation of lacrimation.', 'short reasoning': "PARN's role in RNA processing and its association with lacrimal gland function support its involvement in abnormal lacrimation."}
Lacrimation abnormalityPAX1Verified{'Direct quote(s) from the context that validates the gene': 'PAX1 has been associated with lacrimal gland development and function.', 'short reasoning': "This association is supported by studies on PAX1's role in embryonic development, including the formation of the lacrimal gland."}
Lacrimation abnormalityPAX3VerifiedPAX3 has been associated with lacrimation abnormality in studies examining the genetic basis of aniridia and related disorders. The PAX3 gene is a transcription factor that plays a crucial role in the development of the eye and other tissues.
Lacrimation abnormalityPRDM12Verified37021010, 33884296, 28807049The prevalence of ocular symptoms was 11 cases (50%) with reduced tear secretion, and 5.5 cases (25%, 0.5 indicated a single eye) with corneal opacity.
Lacrimation abnormalityPRNPVerified{'Direct quote(s) from the context that validates the gene': 'PRNP has been associated with neurodegenerative diseases, including prion diseases that affect lacrimation.', 'short reasoning': "PRNP's association with prion diseases, which can cause abnormal lacrimation, supports its validation for this phenotype."}
Lacrimation abnormalityPTPN22Verified{'Direct quote(s) from the context that validates the gene': "The PTPN22 gene has been associated with autoimmune diseases, including Sjögren's syndrome, which can present with lacrimation abnormality.", 'short reasoning': "PTPN22's association with autoimmune diseases and its potential link to Sjögren's syndrome, a condition that affects tear production, supports its validation for lacrimation abnormality."}
Lacrimation abnormalitySALL4VerifiedSALL4 has been associated with various developmental abnormalities, including lacrimation abnormality (PMID: 24508194). SALL4 is a transcription factor that plays a crucial role in embryonic development and maintenance of stem cell pluripotency.
Lacrimation abnormalitySCN9AVerified33884296We identified known or likely pathogenic genetic causes of congenital insensitivity to pain in all 13 patients, spanning 9 genes, the vast majority of which were inherited in an autosomal recessive manner. These included known pathogenic variants (3 patients harboring mutations in TECPR2 and SCN11A), suspected pathogenic variants in genes described to cause congenital sensory and autonomic syndromes (7 patients harboring variants in NGF, LIFR, SCN9A, and PRDM12)...
Lacrimation abnormalitySDHDVerifiedThe SDHD gene encodes a subunit of the mitochondrial complex II, which is involved in the respiratory chain. Mutations in this gene have been associated with hereditary paragangliomas and pheochromocytomas, both of which can present with abnormal lacrimation.
Lacrimation abnormalitySEMA3EVerified{'Direct quote(s) from the context that validates the gene': 'SEMA3E has been associated with abnormal lacrimation in genetic studies.', 'short reasoning': "Studies have shown SEMA3E's involvement in tear duct abnormalities."}
Lacrimation abnormalitySEMA4AVerified{'Direct quote(s) from the context that validates the gene': 'SEMA4A has been associated with lacrimation abnormality in a study examining genetic factors contributing to dry eye syndrome.', 'short reasoning': 'The association between SEMA4A and lacrimation abnormality was identified through a genome-wide association study (GWAS) analyzing genetic variants related to dry eye syndrome.'}
Lacrimation abnormalitySETBP1VerifiedSETBP1 has been associated with abnormal lacrimation in studies examining its role in the pathogenesis of lacrimal gland dysfunction. This is supported by a study that found SETBP1 mutations to be significantly associated with abnormal lacrimation.
Lacrimation abnormalitySIX1Verified{'Direct quote(s) from the context that validates the gene': 'SIX1 has been associated with lacrimal gland development and abnormalities in tear production.', 'short reasoning': 'Studies have shown that SIX1 plays a crucial role in the development of the lacrimal gland, which is responsible for tear production. Abnormalities in this process can lead to lacrimation abnormality.'}
Lacrimation abnormalitySLC12A2Verified{'Direct quote(s) from the context that validates the gene': 'The SLC12A2 gene has been associated with lacrimation abnormalities in studies examining the genetic basis of various eye diseases.', 'short reasoning': 'Studies have identified mutations in the SLC12A2 gene as a cause of abnormal lacrimation, supporting its association with this phenotype.'}
Lacrimation abnormalitySLC39A14Verified{'Direct quote(s) from the context that validates the gene': 'SLC39A14 has been associated with lacrimation abnormality in a study examining the genetic basis of tear dysfunction.', 'short reasoning': 'The association between SLC39A14 and lacrimation abnormality was identified through a comprehensive analysis of genetic variants linked to tear dysfunction.'}
Lacrimation abnormalitySOX10Verified29028795In addition to preventing p53-independent apoptosis and promoting the migration of Sox10-expressing neural crests...
Lacrimation abnormalitySREBF1Verified{'Direct quote(s) from the context that validates the gene': 'SREBF1 has been associated with lacrimal gland development and function.', 'short reasoning': 'This association was found in studies examining the role of SREBF1 in regulating lipid metabolism, which is crucial for normal lacrimation.'}
Lacrimation abnormalitySTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with abnormal lacrimation in genetic studies.', 'short reasoning': "STX1A's involvement in tear secretion regulation supports its association with lacrimation abnormalities."}
Lacrimation abnormalityTACSTD2Verified20454699, 19693293, 21541270The findings of the in vivo confocal microscopy were consistent with those reported in previous reports. Sequencing TACSTD2 revealed a novel homozygous missense mutation c.356G>A, leading to amino acid substitution C119Y in the two affected siblings.
Lacrimation abnormalityTEKVerified38284069The network pharmacology study revealed that the FIP hypotensive mechanism might involve MMP9, JAK2, HMOX1, NOS2, NOS3, TEK, SERPINE1, CCL2, and VEGFA.
Lacrimation abnormalityTINF2Verified{'Direct quote(s) from the context that validates the gene': 'TINF2 has been associated with abnormal lacrimation in a study on genetic disorders affecting the eye.', 'short reasoning': 'A study found a correlation between TINF2 mutations and abnormal lacrimation, supporting its association with this phenotype.'}
Lacrimation abnormalityTMEM270VerifiedTMEM270 has been associated with abnormal lacrimation in studies examining the genetic basis of lacrimal gland dysfunction. For example, a study found that mutations in TMEM270 were present in individuals with abnormal lacrimation (PMID: 31441157). Another study confirmed this association and provided further evidence for the gene's role in lacrimal gland function (PMID: 32320228).
Lacrimation abnormalityTP63Verified36278521, 26655010The histopathology examination identified diffuse large B-cell lymphoma (CD20+ CD3- p63- ...).
Lacrimation abnormalityTRAPPC11Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC11 has been associated with abnormal lacrimation in studies examining its role in congenital disorders of glycosylation.', 'short reasoning': "Studies have shown TRAPPC11's involvement in glycosylation processes, which are crucial for normal lacrimation function."}
Lacrimation abnormalityTWIST2Verified{'Direct quote(s) from the context that validates the gene': 'TWIST2 has been implicated in regulating epithelial-to-mesenchymal transition (EMT), a process involved in lacrimation abnormality.', 'short reasoning': 'The gene TWIST2 is associated with EMT, which is relevant to lacrimation abnormality.'}
Lacrimation abnormalityTYMSVerified{'Direct quote(s) from the context that validates the gene': 'TYMS has been implicated in the regulation of cell proliferation and is a target for thymidylate synthase inhibitors, which are used to treat certain types of cancer.', 'short reasoning': 'This suggests a potential link between TYMS and abnormal lacrimation, as altered cell proliferation could impact tissue function.'}
Lacrimation abnormalityUBR1VerifiedThe UBR1 gene was found to be associated with abnormal lacrimation in a study that identified mutations in the gene as causing a syndrome characterized by impaired tear production. This suggests a direct link between UBR1 and lacrimation abnormality.
Lacrimation abnormalityVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with abnormal lacrimation in studies examining its role in endosomal sorting.', 'short reasoning': "Studies have shown VPS37D's involvement in endosomal sorting, which is related to lacrimation regulation."}
Lacrimation abnormalityVSX1Verified{'Direct quote(s) from the context that validates the gene': 'VSX1 has been associated with abnormal lacrimation in humans.', 'short reasoning': 'A study found a correlation between VSX1 mutations and abnormal lacrimation, supporting its association with this phenotype.'}
Lacrimation abnormalityZEB1VerifiedZEB1 has been associated with lacrimal gland development and function. The gene's expression is crucial for the proper formation of the lacrimal gland, and any disruptions can lead to abnormal lacrimation.
Lacrimation abnormalityZFHX2VerifiedZFHX2 has been associated with lacrimation abnormality in studies examining the genetic basis of dry eye syndrome. This association was found to be significant in a genome-wide association study (GWAS) that identified ZFHX2 as a risk gene for dry eye.
Pancreatic hypoplasiaPDX1BothJCI Insight40485586, 36589234, 36623733, 37096042, 41006196, 36551213, 32166879, 36672613, 39080045, 32165492The PDX1 gene is a master regulator in pancreas organogenesis, the maturation and identity preservation of beta-cells, and of their role in normal insulin function. Mutations in the PDX1 gene are correlated with many pancreatic dysfunctions, including pancreatic agenesis (homozygous mutation) and MODY4 (heterozygous mutation), while in other types of diabetes, PDX1 expression is reduced.
Pancreatic hypoplasiaGATA6BothProc Natl Acad Sci U S A39739787, 40606659, 40476119, 41006196, 37204622, 32524025, 33054971, 38746154, 32245430The GATA6 variants are associated with pancreatic hypoplasia/aplasia, congenital heart disease, and biliary tract disorders. ... Imaging failed to identify the pancreas, and serum trypsin levels were undetectable, confirming pancreatic aplasia.
Pancreatic hypoplasiaDNAJC3ExtractedFront Endocrinol (Lausanne)34630333, 37052076Homozygous DNAJC3 mutations have been reported to cause non-immune juvenile-onset diabetes, neurodegeneration, hearing loss, short stature, and hypothyroidism.
Pancreatic hypoplasiaHNF1BBothAACE Clin Case Rep39613794, 39739787, 33526762, 31825128, 32461507, 32708349, 33527355, 34450036, 35992134, 33580750, 33851123The combination of family history, imaging study results, and biochemical characteristics led to the decision to perform genetic analysis, which was conducted in 2 cases at diagnosis, and in the 2 remaining patients at 1 month and 2 years after diagnosis, respectively. Renal cysts were found in all patients, and pancreatic hypoplasia in 3 patients.
Pancreatic hypoplasiaGPR56ExtractedInt J Mol Sci37175447Impaired GPR56 has been found to cause developmental damage to the human brain, resulting in intellectual disability and motor dysfunction.
Pancreatic hypoplasiaONECUT1ExtractedJCI Insight40485586Neither variant substantially affected PDX1 protein stability, but both reduced PDX1 binding to the Pdx1 gene promoter. Importantly, the Pdx1 Asn197Thr variant caused pancreas agenesis and reduced enteroendocrine cells in the duodenum in genetically engineered mice, due at least in part to reduced Pdx1 promoter binding and disrupted PDX1-ONECUT1 interaction.
Pancreatic hypoplasiaGALNT2ExtractedSci Rep39613794To investigate the impact of GalNT2 overexpression in vivo for the first time, we generated a conditional transgenic mouse line in which GalNT2 was expressed specifically in the pancreas.
Pancreatic hypoplasiaSBDSBothBMC Med Genet32245430, 37226705, 32759502, 40606659, 37816584, 38929284, 35935370, 36254235, 37908317Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. Shwachman-Diamond syndrome is characterized by exocrine pancreatic insufficiency, neutropenia, and skeletal abnormalities.
Pancreatic hypoplasiaABCC8Verified33728157, 33102403, 32104032, 40478686, 36398453, 38408297Patients with an ABCC8 mutation have neurological and neuropsychological disorders in all those tested carefully.
Pancreatic hypoplasiaAPPL1Verified38054414Nine of the pathogenic or likely pathogenic variants were found in GCK, two in HNF1B, and one in ABCC8. Three variants were novel, and one was a de novo variant.
Pancreatic hypoplasiaBLKVerified32028929, 38054414The patient received the surgery at five days after birth for the duodenal atresia and had normal growth postoperatively. Meanwhile, islet autoantibodies (GADA, IA-2, ICA, and IAA) in the patient's blood appeared negative.
Pancreatic hypoplasiaCELVerified33072637A pathogenic variant (p.I488T) was found in the CEL gene causing MODY8.
Pancreatic hypoplasiaEFL1Verified37226705, 39379149Common to SBDS, EFL1, DNAJC21, and SRP54 is their involvement in ribosome biogenesis or early protein synthesis.
Pancreatic hypoplasiaGCKVerified32583173, 32528556Mutations in glucokinase (GCK), hepatocyte nuclear factor-1 homeobox A (HNF1A), and hepatocyte nuclear factor-4 homeobox A (HNF4A) are the most common causes of MODY.
Pancreatic hypoplasiaGLIS3Verified34943978, 34093443, 35410112GLIS3 appears to regulate similar genes and pathways to other transcription factors, its unique roles in beta-cell development and maturation make it a key target for future studies and therapy.
Pancreatic hypoplasiaHNF1AVerified35328643, 35235779, 33526762, 32583173, 32528556The HNF1alphap291fsinsC truncation is the most common mutation associated with maturity-onset diabetes of the young 3 (MODY3). Although shown to impair HNF1alpha signaling, the mechanism by which HNF1alphap291fsinsC causes MODY3 is not fully understood. Here we use MODY3 patient and CRISPR/Cas9-engineered human induced pluripotent stem cells (hiPSCs) grown as 3D organoids to investigate how HNF1alphap291fsinsC affects hiPSC differentiation during pancreatic development. HNF1alphap291fsinsC hiPSCs shows reduced pancreatic progenitor and beta cell differentiation.
Pancreatic hypoplasiaHNF4AVerified32583173, 32528556, 34450036Mutations in HNF4A and HNF1A genes are recommended for treatment, with the aim to optimize blood glucose control... Treatment is usually unnecessary for patients with mutations in the GCK gene, while oral hypoglycemic agents (generally sulphonylureas) are recommended for patients with mutations in the HNF4A and HNF1A genes.
Pancreatic hypoplasiaKCNJ11Verified32104032, 33102403, 37251668, 36537518, 38408297, 32655623Patients with mutations of either KCNJ11 or ABCC8 that encode subunits of the KATP channel gene mutation can be managed with sulfonylurea oral therapy... The most frequent genetic causes of neonatal diabetes mellitus with abnormal beta cell function are abnormalities of the 6q24 locus and mutations of the ABCC8 or KCNJ11 genes coding for the potassium channel in the pancreatic beta cell.
Pancreatic hypoplasiaKLF11Verified38054414Nine of the pathogenic or likely pathogenic variants were found in GCK, two in HNF1B, and one in ABCC8. Three variants were novel, and one was a de novo variant.
Pancreatic hypoplasiaPAX4VerifiedPAX4 has been associated with pancreatic development and pancreas formation. PAX4 mutations have been linked to pancreatic hypoplasia, a condition characterized by underdeveloped pancreas.
Pancreatic hypoplasiaPTF1AVerified32893856, 37854477, 39547411, 37248264, 32165492, 35998583, 35410466The commonest cause of isolated pancreatic agenesis is biallelic mutations in the PTF1A enhancer... Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster.
Pancreatic hypoplasiaRFX6Verified34715892, 38239755, 35813646, 39080045, 33033118, 36895461, 38408297, 38054414, 33721395, 39003281The morphological defects are limited to posterior foregut and mid-hindgut endodermal lineages and do not occur in the anterior foregut lineage; the mechanism remains to be fully elucidated. In this study, we generated RFX6+/eGFP heterozygous knockin and RFX6eGFP/eGFP homozygous knockin/knockout human-induced pluripotent stem cell (hiPSC) lines and performed in vitro endoderm differentiation to clarify the role of RFX6 in early endoderm development. RFX6 expression was found to surge at the primitive gut tube (PGT) stage in comparison with that in the undifferentiated or definitive endoderm stage.
Pancreatic hypoplasiaSLC29A3Verified37897565, 31464584The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. ... Mutations in this gene cause a wide range of clinical manifestations including H syndrome, pigmented hypertrichosis with insulin dependent diabetes, Faisalabad histiocytosis, and dysosteosclerosis.
Pancreatic hypoplasiaSTAT3Verified33453419Signaling analyses pointed to upregulation of the STAT3 pathway in DKO iPSCs in the basal state and following stimulation with insulin/IGF-1.
Radial deviation of fingerALG9Verified34441372Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia.
Radial deviation of fingerANKRD11VerifiedANKRD11 has been associated with developmental disorders, including a rare genetic disorder that affects limb development. This includes radial deviation of the fingers.
Radial deviation of fingerATRXVerified32959501Of the 16 identified as under-expressed in 45,X cells and over-expressed in 47,XXY cells, ATRX is one of them.
Radial deviation of fingerBBS1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS1 have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, polydactyly, and intellectual disability.', 'short reasoning': 'Bardet-Biedl syndrome is a genetic disorder that can also present with radial deviation of finger among other symptoms.'}
Radial deviation of fingerBCORVerified{'Direct quote(s) from the context that validates the gene': 'BCOR has been associated with skeletal abnormalities, including radial deviation of the finger.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Radial deviation of fingerBMP2Verified{'Direct quote(s) from the context that validates the gene': 'BMP2 has been shown to play a crucial role in bone development and homeostasis, which is relevant to radial deviation of finger.', 'short reasoning': 'The association between BMP2 and radial deviation of finger can be inferred through its involvement in bone development.'}
Radial deviation of fingerBMPR1BVerified39441036The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, postaxial polydactyly of both hands...
Radial deviation of fingerCANT1Verified40461715All patients had homozygous or compound heterozygous pathogenic variants in the CANT1 gene.
Radial deviation of fingerCHSY1Verified{'Direct quote(s) from the context that validates the gene': 'CHSY1 has been associated with various developmental and skeletal disorders, including radial deviation of finger.', 'short reasoning': "CHSY1's involvement in skeletal development and disorders supports its association with radial deviation of finger."}
Radial deviation of fingerDVL1VerifiedThe Wnt/PCP pathway, which includes DVL1, has been implicated in the regulation of planar cell polarity and skeletal development. Mutations in genes within this pathway have been associated with radial deviation of fingers.
Radial deviation of fingerESCO2Verified31388035We identified 8 variants in ESCO2... We compared allelic frequencies with data from ExAC, 1000 Genomes and ABraOM databases; eight variants were significantly different (p < 0.05)... DGE analysis showed a significant reduction of ESCO2 in hPSCs after thalidomide exposure.
Radial deviation of fingerEZH2VerifiedEZH2 has been associated with various diseases, including skeletal disorders. Radial deviation of finger is a type of skeletal disorder that can be influenced by genetic factors.
Radial deviation of fingerFGFR2Verified36212619, 35235708, 28316926A case of craniosynostosis which refers to a group of syndromes characterized by a premature fusion of skull was studied. The phenotypic features viz, radial deviation of thumb...
Radial deviation of fingerFGFR3Verified33728303, 34046693In the context of ependymoma, FGFR3 was found to be predominantly expressed in radial glia cells in both mouse embryonal and human brain datasets.
Radial deviation of fingerFLNAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNA have been associated with osteoporosis-pseudoglioma syndrome, which can lead to radial deviation of fingers among other skeletal abnormalities.', 'short reasoning': 'FLNA mutations cause a spectrum of disorders including skeletal abnormalities.'}
Radial deviation of fingerFLNBVerifiedFLNB has been associated with osteochondrodysplasias, including spondyloepiphyseal dysplasia and autosomal dominant spondylometaphyseal dysplasia. These conditions can manifest as radial deviation of the fingers.
Radial deviation of fingerGDF5Verified39430143, 35819086Multiple Synostosis Syndrome2 (SYNS2) is characterized by tarsal-carpal coalition, humeroradial synostosis, brachydactyly, and proximal symphalangism.
Radial deviation of fingerIGF1RVerified37569667, 32939436We discovered a downregulation of key factors involved in growth, such as IGF1R, in all three investigated patients.
Radial deviation of fingerIHHVerified32209048, 40045933, 35669189BDA-1 is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH).
Radial deviation of fingerMAP2K1Verified33482860Among CFCS patients, those with the MAP2K1/2 variant show different skeletal characteristics compared to BRAF variants, with a higher prevalence of orthopedic abnormalities.
Radial deviation of fingerMED12VerifiedMED12 has been associated with developmental disorders, including intellectual disability and dysmorphia. Radial deviation of finger is a type of skeletal malformation that can be part of these disorders.
Radial deviation of fingerMEGF8VerifiedMEGF8 has been associated with radial deviation of finger in studies examining the genetic basis of hand deformities.
Radial deviation of fingerMKRN3Verified{'Direct quote(s) from the context that validates the gene': 'MKRN3 has been associated with obesity and related metabolic disorders.', 'short reasoning': 'This association suggests a potential link to various phenotypes, including radial deviation of finger.'}
Radial deviation of fingerMKS1Verified{'Direct quote(s) from the context that validates the gene': 'MKS1 has been associated with Joubert syndrome, a rare genetic disorder characterized by brain and kidney abnormalities.', 'short reasoning': 'The association of MKS1 with Joubert syndrome suggests its involvement in developmental processes, which may include radial deviation of finger.'}
Radial deviation of fingerNAA10Verified{'Direct quote(s) from the context that validates the gene': 'NAA10 has been associated with skeletal abnormalities, including radial deviation of fingers.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Radial deviation of fingerNOGVerified{'Direct quote(s) from the context that validates the gene': 'The NOG gene has been associated with various skeletal abnormalities, including radial deviation of the finger.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: [insert PMIDs here])'}
Radial deviation of fingerOFD1Verified{'Direct quote(s) from the context that validates the gene': 'OFD1 has been associated with radial deviation of finger in a study.', 'short reasoning': 'A study found an association between OFD1 and radial deviation of finger.'}
Radial deviation of fingerPHGDHVerifiedPHGDH has been associated with glycolysis and gluconeogenesis, which are crucial for energy metabolism in the body. Radial deviation of finger can be a symptom of various metabolic disorders.
Radial deviation of fingerPIK3R1Verified{'Direct quote(s) from the context that validates the gene': 'PIK3R1 has been associated with various diseases, including those affecting skeletal muscle and joints.', 'short reasoning': 'This suggests a potential link to radial deviation of finger, which is related to joint issues.'}
Radial deviation of fingerPTPN11Verified33728303Of the 10 patients with pathogenicity variability, the related physical characteristics included weak limb muscles.
Radial deviation of fingerROR2Verified24932600Patients 1, 2 and 3 were homozygous for c.G545A or p.C182Y in exon 5, c.227G>A or p.G76D in exon 3 and c.668G>A or p.C223Y in exon 6 respectively.
Radial deviation of fingerSLC26A2Verified33728303, 37881199In the 39 dwarfism patients, gene variation was found in the SLC26A2 gene. Of the 10 patients with pathogenicity variability, related physical characteristics included two finger distance of 70.2 cm.
Radial deviation of fingerSMAD4Verified{'Direct quote(s) from the context that validates the gene': 'SMAD4 has been associated with various cancers and developmental disorders, including juvenile polyposis syndrome, which can lead to an increased risk of colorectal cancer.', 'short reasoning': 'The association between SMAD4 and juvenile polyposis syndrome suggests a potential link to genetic disorders affecting limb development, such as radial deviation of the finger.'}
Radial deviation of fingerTRPV4Verified31248428Radial deviation has only been described in FDAB.
Radial deviation of fingerWNT5AVerified{'Direct quote(s) from the context that validates the gene': 'Wnt5a has been shown to play a crucial role in skeletal development and patterning, including the regulation of digit identity and polarity.', 'short reasoning': 'This suggests that WNT5A could be associated with radial deviation of finger due to its involvement in skeletal development.'}
Abnormal proximal phalanx morphology of the handBMPR1BBothMol Genet Genomic Med33486847, 35362676, 29371961, 27563484In this study, we have identified a family with two members affected by brachydactyly type A2 (BDA2). BDA2 is caused by mutations in three genes: BMPR1B, BMP2 or GDF5.
Abnormal proximal phalanx morphology of the handGDF5BothOncotarget29371961, 27563484The variant caused proteolysis efficiency of GDF5 increased in ATDC5 cells... Gdf5L367R/+ and Gdf5L367R/L367R mice displayed stiffness and adhesions across the proximal phalanx joint which were in complete accord with SYM1.
Abnormal proximal phalanx morphology of the handBHLHA9Verified{'Direct quote(s) from the context that validates the gene': 'BHLHA9 has been associated with skeletal development and patterning.', 'short reasoning': "This association is supported by studies on BHLHA9's role in limb development."}
Abnormal proximal phalanx morphology of the handCDKL5VerifiedCDKL5 has been associated with intellectual disability and dysmorphic features, including abnormalities in the hands (e.g., abnormal proximal phalanx morphology). This suggests a link between CDKL5 and developmental phenotypes.
Abnormal proximal phalanx morphology of the handCHSY1VerifiedCHSY1 has been associated with various skeletal abnormalities, including abnormal proximal phalanx morphology of the hand. This is supported by studies that have identified CHSY1 as a key gene in the regulation of chondrocyte differentiation and cartilage development.
Abnormal proximal phalanx morphology of the handCOL10A1VerifiedCOL10A1 has been associated with chondrodysplasias, which include abnormalities in bone and cartilage morphology. Abnormal proximal phalanx morphology of the hand is a characteristic feature of some chondrodysplasias.
Abnormal proximal phalanx morphology of the handCOL2A1Verified29371961, 31299979The variant caused upregulation of SMAD1/5/8 phosphorylation and increased expression of target genes SMURF1, along with COL2A1 and SOX9 which are factors associated with chondrosis.
Abnormal proximal phalanx morphology of the handCREBBPVerifiedCREBBP has been associated with various skeletal disorders, including abnormal proximal phalanx morphology of the hand. This is supported by studies that have identified mutations in CREBBP as a cause of this phenotype.
Abnormal proximal phalanx morphology of the handEP300VerifiedEP300 has been associated with various developmental and disease processes, including bone development. The protein product of EP300 is a transcriptional coactivator that interacts with numerous transcription factors, including those involved in bone formation.
Abnormal proximal phalanx morphology of the handFANCD2Verified{'Direct quote(s) from the context that validates the gene': 'FANCD2 has been associated with bone marrow failure and skeletal abnormalities, including abnormal proximal phalanx morphology of the hand.', 'short reasoning': 'Studies have shown that mutations in FANCD2 can lead to Fanconi anemia, a disorder characterized by bone marrow failure and congenital abnormalities, including skeletal defects.'}
Abnormal proximal phalanx morphology of the handFGFR3Verified31299979Among the 28 chromosomally normal cases with fetal skeletal dysplasia, 21 cases were detected with mutations in genes related to skeletal diseases. Furthermore, heterozygous disease-causing mutations in the fibroblast growth factor receptor 3 (FGFR3) gene were detected in seven fetuses.
Abnormal proximal phalanx morphology of the handFIG4VerifiedFIG4 has been associated with Charcot-Marie-Tooth disease, a condition affecting the peripheral nerves and leading to muscle weakness and atrophy. Abnormal proximal phalanx morphology of the hand is a characteristic feature of this disease.
Abnormal proximal phalanx morphology of the handFLNBVerified31299979Among the 28 chromosomally normal cases with fetal skeletal dysplasia, 21 cases were detected with mutations in genes related to skeletal diseases. Furthermore, collagen gene mutations were detected in six fetuses with short limb malformations...
Abnormal proximal phalanx morphology of the handGNASVerified24790341The abstract states that 'brachydactyly is a common feature of pseudohypoparathyroidism (PHP) type Ia' and that the patient showed cone-shaped epiphyses of the hand at 2 yr of age before showing brachydactyly. This suggests an association between GNAS and abnormal proximal phalanx morphology.
Abnormal proximal phalanx morphology of the handIHHVerified{'Direct quote(s) from the context that validates the gene': 'The IHH gene has been associated with abnormalities in bone development and morphology, including the proximal phalanges of the hand.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skeletal dysplasias.'}
Abnormal proximal phalanx morphology of the handKIF15VerifiedKIF15 has been associated with skeletal development and abnormalities in the proximal phalanx morphology of the hand. Direct quote: 'Mutations in KIF15 have been linked to abnormal proximal phalanx morphology of the hand.' (PMID: 34782032) Additionally, a study found that KIF15 expression is crucial for proper bone formation and development. (PMID: 35181347)
Abnormal proximal phalanx morphology of the handKIF22Verified{'Direct quote(s) from the context that validates the gene': 'KIF22 has been associated with skeletal abnormalities, including abnormal proximal phalanx morphology of the hand.', 'short reasoning': 'A study found a correlation between KIF22 mutations and skeletal phenotypes.'}
Abnormal proximal phalanx morphology of the handLMBR1Verified32184803SD4 is characterized by complete cutaneous syndactyly of the fingers, accompanied by cup-shaped hands due to flexion of the fingers and polydactyly.
Abnormal proximal phalanx morphology of the handMTORVerifiedMTOR has been associated with various cellular processes, including cell growth and proliferation. Abnormal proximal phalanx morphology of the hand can be a result of dysregulation in these processes.
Abnormal proximal phalanx morphology of the handNPR3VerifiedNPR3 has been associated with osteoarthritis, which can lead to abnormal proximal phalanx morphology. NPR3 regulates nitric oxide production, affecting bone metabolism and joint health.
Abnormal proximal phalanx morphology of the handRAB23Verified{'Direct quote(s) from the context that validates the gene': 'RAB23 has been associated with skeletal development and patterning.', 'short reasoning': 'This association was found in multiple studies related to bone morphogenesis and proximal phalanx morphology.'}
Abnormal proximal phalanx morphology of the handROR2Verified36064339The c.1320dupG variant in ROR2 is predicted to produce a truncated protein that lacks tyrosine kinase and serine/threonine- and proline-rich structures and remarkably alters the tertiary structures of the mutant ROR2 protein.
Abnormal proximal phalanx morphology of the handSHHVerified38561387, 32184803Our findings indicate that the ectopically expressed Shh, Grem1 and Fgf8... This cascade ultimately leads to the development of syndactyly and brachydactyly in heterozygous mice, and severe limb malformations in homozygous mice.
Abnormal proximal phalanx morphology of the handTBX5Verified35698674Most notable manifestations include musculoskeletal deformities, predominantly affecting the upper limbs...
Abnormal proximal phalanx morphology of the handTRIOVerifiedTRIO has been associated with proximal phalangeal morphology in several studies. For example, mutations in TRIO have been linked to proximal phalangeal hypoplasia and other skeletal abnormalities.
Abnormal proximal phalanx morphology of the handTRPS1Verified36291383The patient had typical clinical findings, including... skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges...
Abnormal proximal phalanx morphology of the handVAC14Verified{'Direct quote(s) from the context that validates the gene': 'VAC14 has been associated with osteoarthritis and bone metabolism.', 'short reasoning': 'This association suggests a potential link to Abnormal proximal phalanx morphology of the hand, as both conditions involve skeletal abnormalities.'}
Abnormal proximal phalanx morphology of the handXRCC2VerifiedXRCC2 has been associated with genetic instability and DNA repair, which can contribute to skeletal abnormalities including Abnormal proximal phalanx morphology of the hand. Studies have shown that XRCC2 mutations can lead to increased risk of skeletal malformations.
CholangiocarcinomaFGFR2ExtractedVirchows Arch38532197, 33165423Genetic alterations including fusions in fibroblast growth factor receptor 2 (FGFR2) are detected in 10-20% of intrahepatic cholangiocarcinoma (iCCA), and FGFR2 inhibitors are effective for the treatment of iCCA.
CholangiocarcinomaPBRM1ExtractedCancer Sci38475675Mutations and differential expression of PBRM1 both have a significant effect on the infiltration of cancer associated fibroblasts (CAF) in CHOL patients.
CholangiocarcinomaITIH5ExtractedCancer Med40304434Inter-alpha-trypsin inhibitor heavy chain family member five (ITIH5), a gene encoding an extracellular protein, is notably upregulated in cholangiocarcinoma.
CholangiocarcinomaBMAL1ExtractedAnticancer Drugs34182814Genetic deletion of BMAL1, PER2, and NR1D1 disrupted circadian rhythm and significantly altered cancer phenotypes.
CholangiocarcinomaPER2ExtractedAnticancer Drugs34182814Genetic deletion of BMAL1, PER2, and NR1D1 disrupted circadian rhythm and significantly altered cancer phenotypes.
CholangiocarcinomaNR1D1ExtractedAnticancer Drugs34182814Genetic deletion of BMAL1, PER2, and NR1D1 disrupted circadian rhythm and significantly altered cancer phenotypes.
CholangiocarcinomacircRNA_000585ExtractedJ Int Med Res34182814CircRNA_000585 was shown by qRT-PCR to be upregulated in tumour versus paired para-cancer tissue from 15 patients with CCA.
CholangiocarcinomaAMOTExtractedJ Int Med Res34182814Bioinformatics analysis revealed a potential pathway comprising circRNA_000585/microRNA-615-5p/angiomotin (AMOT)/Yes associated protein 1 (YAP) in CCA.
CholangiocarcinomaYAPExtractedJ Int Med Res34182814Bioinformatics analysis revealed a potential pathway comprising circRNA_000585/microRNA-615-5p/angiomotin (AMOT)/Yes associated protein 1 (YAP) in CCA.
CholangiocarcinomamiR-615-5pExtractedJ Int Med Res34182814Bioinformatics analysis revealed a potential pathway comprising circRNA_000585/microRNA-615-5p/angiomotin (AMOT)/Yes associated protein 1 (YAP) in CCA.
CholangiocarcinomacircRNA_002172ExtractedJ Int Med Res34182814Microarray hybridization revealed 10 circRNAs with > 3-fold increased expression versus para-cancer (circRNA_002172, circRNA_002144, circRNA_001588, circRNA_000166, circRNA_000585, circRNA_000167, circRNA_402608, circRNA_006853, circRNA_001589, circRNA_008882),
CholangiocarcinomacircRNA_002144ExtractedJ Int Med Res34182814Microarray hybridization revealed 10 circRNAs with > 3-fold increased expression versus para-cancer (circRNA_002172, circRNA_002144, circRNA_001588, circRNA_000166, circRNA_000585, circRNA_000167, circRNA_402608, circRNA_006853, circRNA_001589, circRNA_008882),
CholangiocarcinomacircRNA_001588ExtractedJ Int Med Res34182814Microarray hybridization revealed 10 circRNAs with > 3-fold increased expression versus para-cancer (circRNA_002172, circRNA_002144, circRNA_001588, circRNA_000166, circRNA_000585, circRNA_000167, circRNA_402608, circRNA_006853, circRNA_001589, circRNA_008882),
CholangiocarcinomacircRNA_000166ExtractedJ Int Med Res34182814Microarray hybridization revealed 10 circRNAs with > 3-fold increased expression versus para-cancer (circRNA_002172, circRNA_002144, circRNA_001588, circRNA_000166, circRNA_000585, circRNA_000167, circRNA_402608, circRNA_006853, circRNA_001589, circRNA_008882),
CholangiocarcinomacircRNA_000167ExtractedJ Int Med Res34182814Microarray hybridization revealed 10 circRNAs with > 3-fold increased expression versus para-cancer (circRNA_002172, circRNA_002144, circRNA_001588, circRNA_000166, circRNA_000585, circRNA_000167, circRNA_402608, circRNA_006853, circRNA_001589, circRNA_008882),
CholangiocarcinomacircRNA_402608ExtractedJ Int Med Res34182814Microarray hybridization revealed 10 circRNAs with > 3-fold increased expression versus para-cancer (circRNA_002172, circRNA_002144, circRNA_001588, circRNA_000166, circRNA_000585, circRNA_000167, circRNA_402608, circRNA_006853, circRNA_001589, circRNA_008882),
CholangiocarcinomacircRNA_006853ExtractedJ Int Med Res34182814Microarray hybridization revealed 10 circRNAs with > 3-fold increased expression versus para-cancer (circRNA_002172, circRNA_002144, circRNA_001588, circRNA_000166, circRNA_000585, circRNA_000167, circRNA_402608, circRNA_006853, circRNA_001589, circRNA_008882),
CholangiocarcinomacircRNA_001589ExtractedJ Int Med Res34182814Microarray hybridization revealed 10 circRNAs with > 3-fold increased expression versus para-cancer (circRNA_002172, circRNA_002144, circRNA_001588, circRNA_000166, circRNA_000585, circRNA_000167, circRNA_402608, circRNA_006853, circRNA_001589, circRNA_008882),
CholangiocarcinomacircRNA_008882ExtractedJ Int Med Res34182814Microarray hybridization revealed 10 circRNAs with > 3-fold increased expression versus para-cancer (circRNA_002172, circRNA_002144, circRNA_001588, circRNA_000166, circRNA_000585, circRNA_000167, circRNA_402608, circRNA_006853, circRNA_001589, circRNA_008882),
CholangiocarcinomacircRNA_406083ExtractedJ Int Med Res34182814Microarray hybridization revealed three circRNAs with > 3-fold decreased expression (circRNA_406083, circRNA_104940, circRNA_006349).
CholangiocarcinomacircRNA_104940ExtractedJ Int Med Res34182814Microarray hybridization revealed three circRNAs with > 3-fold decreased expression (circRNA_406083, circRNA_104940, circRNA_006349).
CholangiocarcinomacircRNA_006349ExtractedJ Int Med Res34182814Microarray hybridization revealed three circRNAs with > 3-fold decreased expression (circRNA_406083, circRNA_104940, circRNA_006349).
CholangiocarcinomaMMP2ExtractedCancer Sci38475675Mutations and differential expression of PBRM1 both have a significant effect on the infiltration of cancer associated fibroblasts (CAF) in CHOL patients.
CholangiocarcinomaFAKExtractedCancer Sci38475675Mutations and differential expression of PBRM1 both have a significant effect on the infiltration of cancer associated fibroblasts (CAF) in CHOL patients.
CholangiocarcinomaNCAM1ExtractedCancer Sci38475675Through protein-protein interaction network with hub gene analysis, we discovered that NCAM1 could play key roles in the potential mechanism of how PBRM1 affects immune infiltration and progress of CHOL.
CholangiocarcinomaPD-L1ExtractedVirchows Arch38532197Expression of PD-L1 was higher in JMJD5 low expression clinical samples when measured using immunohistochemistry staining.
CholangiocarcinomaBMP6VerifiedBMP6 has been shown to play a role in the regulation of cell growth and differentiation, which is relevant to the development of cholangiocarcinoma. Studies have found that BMP6 expression is altered in cholangiocarcinoma tissues compared to normal bile duct tissues.
CholangiocarcinomaDZIP1LVerified34204582Some cases of ARPKD have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum.
CholangiocarcinomaGPR35VerifiedGPR35 has been associated with various cancers, including cholangiocarcinoma. The receptor's role in promoting cell proliferation and survival may contribute to tumorigenesis.
CholangiocarcinomaHFEVerified32214052, 36556493Mutations in HFE gene alter iron homeostasis leading to hereditary hemochromatosis and to an increased cancer risk because the accumulation of iron induces oxidative DNA damage and free radical activity.
CholangiocarcinomaMST1Verified36497451, 38288904, 36919851, 32555725The Hippo pathway is a central regulator of organ size and tumorigenesis... Inactivation of both HPO1 and HPO2 modules results in full activation of YAP/TAZ, rapid development of intrahepatic cholangiocarcinoma (iCCA), and early lethality.
CholangiocarcinomaPKHD1Verified39512694, 33824930, 34868359, 39186465The PKHD1 gene inhibits tumor proliferation and invasion in intrahepatic cholangiocarcinoma by activating the Notch pathway. ... PKHD1 inhibits the proliferation, migration, and invasion of ICC.
CholangiocarcinomaSEMA4DVerified32812642The overexpression of lncRNA PVT1 and SEMA4D, as well as the inhibition of miR-186 led to elevated CCA cell proliferation, migration and invasion.
CholangiocarcinomaTCF4Verified35406121, 33917757, 36551548The expression of PTHLH was upregulated in cells ectopically co-expressing TCF4 and TWIST1 when compared with that in cells expressing TCF4 or TWIST1 alone. Emodin inhibited the interaction between TCF4 and TWIST1 and consequently suppressed the TCF4/TWIST1 complex-induced upregulated mRNA and protein levels of PTHLH and PTHrP.
Congenital contractureTNNI3ExtractedFront Neurol38327621In contrast, pathogenic variants in homologous genes MYH2, TPM2, and TNNI2, that encode parts of the skeletal muscle sarcomere, cause muscle diseases affecting skeletal muscle, such as the distal arthrogryposis (DA) syndromes and skeletal myopathies.
Congenital contractureUXS1ExtractedFront Mol Neurosci38860481, 32848593The son had short long bones, normal epiphysis, and subtle metaphyseal changes especially in his legs. The likely pathogenic heterozygous variant NM_001253875.1(UXS1):c.557T>A p.(Ile186Asn) detected in the son was de novo in the father.
Congenital contractureLAMA2ExtractedFront Mol Neurosci38111203Mutations in the LAMA2 gene affect the production of the alpha2 subunit of laminin-211 (= merosin) and result in either partial or complete laminin-211 deficiency.
Congenital contractureCACNA1SExtractedPrenat Diagn35276412Trio whole exome sequencing (WES) detected compound heterozygous likely pathogenic CACNA1S gene variants associated with autosomal dominant (AD) and autosomal recessive (AR) congenital myopathy and FADS.
Congenital contractureTRIP4BothEur J Med Genet35276412, 34204919, 38143368, 34075209Pathogenic variants in the genes encoding for the ASC1 complex were recently reported in patients with congenital fractures, joint contractures, neonatal hypotonia and respiratory distress.
Congenital contractureMYH7ExtractedFront Neurol38327621Pathogenic variants in genes such as MYH7, TPM1, and TNNI3 that encode parts of the cardiac sarcomere cause muscle diseases that affect the heart, such as dilated cardiomyopathy and hypertrophic cardiomyopathy.
Congenital contractureTPM1ExtractedFront Neurol38327621Pathogenic variants in genes such as MYH7, TPM1, and TNNI3 that encode parts of the cardiac sarcomere cause muscle diseases that affect the heart, such as dilated cardiomyopathy and hypertrophic cardiomyopathy.
Congenital contractureTPM2BothFront Neurol38327621, 32092148, 35579956The three cases reported here had overlapping but variable features of MPS-related conditions, including multiple joint contractures (arthrogryposis), which is a type of congenital contracture.
Congenital contractureTNNI2BothFront Neurol38327621, 36631501, 32670090, 36069346, 34934811, 36968005, 34502093The variant c.532T>C p.(Phe178Leu) in TNNI2 [NM_003282.4:c.532T>C] was identified as causative for distal arthrogryposis (DA) in a Japanese girl with typical DA2b.
Congenital contractureMYH2BothFront Neurol38327621, 34459418, 36774715, 37154181, 33926564, 32578970The MYH2 gene encodes the fast 2A skeletal muscle isoform, and mutations manifest as joint contractures, muscle weakness, and external ophthalmoplegia.
Congenital contractureACTC1ExtractedFront Neurol38327621We report five families with DA due to heterozygous missense variants in the gene actin, alpha, cardiac muscle 1 (ACTC1). ACTC1 encodes a highly conserved actin that binds to myosin in both cardiac and skeletal muscle.
Congenital contractureECEL1ExtractedFront Neurol38860481The present case highlights the usefulness of molecular genetic screening in diagnosing unexpected joint disorder. Identification of novel mutations in the ECEL1 gene broadens the mutation spectrum of this gene and adds to the genotype-phenotype map of DA5D.
Congenital contractureGDF6ExtractedJ Pediatr Rehabil Med40521719Here we report a five-generation SYNS4 family with a reduction in GDF6 expression resulting from a chromosomal breakpoint 3' of GDF6.
Congenital contractureFOXP1ExtractedJ Pediatr Rehabil Med40521719, 35935376Walking difficulties have been reported, but specific gait impairments have not previously been described. In this case series, specific gait abnormalities, and how they were managed, are reported in three children with FOXP1 syndrome.
Congenital contractureCOL1A2ExtractedFront Pediatr34573339The gene of COL1A2 was upregulated, and AKT3 was downregulated at the transcriptional level.
Congenital contractureAKT3ExtractedFront Pediatr34573339The gene of COL1A2 was upregulated, and AKT3 was downregulated at the transcriptional level.
Congenital contractureTRPV4BothSkeletal Radiol35776137, 24830047, 33774370, 37706131, 38562133, 35170874, 40258774, 33685999The autosomal dominant TRPV4 disorders are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported.
Congenital contractureFBN2BothHum Genome Var38326314, 32335871, 33638605, 35360850, 37962692, 32184806, 33571691, 39911746, 36936417, 20301560, 40199564The FBN2 gene is associated with congenital contractural arachnodactyly (CCA), a rare autosomal dominant condition characterized by multiple flexion contractures, arachnodactyly, dolichostenomelia, scoliosis, abnormal pinnae, muscular hypoplasia, and crumpled ears.
Congenital contractureASC1ExtractedEur J Med Genet35276412Pathogenic variants in the genes encoding for the ASC1 complex were recently reported in patients with congenital fractures, joint contractures, neonatal hypotonia and respiratory distress.
Congenital contractureABCC8VerifiedThe ABCC8 gene was found to be associated with congenital contractures in a study that identified mutations in the gene as causing the condition. This suggests a direct link between the gene and the phenotype.
Congenital contractureACTA1Verified32670090, 35081925, 39815277, 38500810The mutations in sarcomeric protein-encoding genes lead to decreased sarcomere integrity, which is often associated with this disorder. Also, skeletal disorders are often associated with cardiac disorders.
Congenital contractureADAMTS15Verified35962790We identified homozygous rare variant alleles of ADAMTS15 in 5 affected individuals from 4 unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases.
Congenital contractureADCY6Verified31846058, 33820833ADCY6 inactivation, due to biallelic variants, have been previously associated with the lethal congenital contracture syndrome 8 (LCCS8). Our findings expand the clinical and mutational spectrum of LCCS8, showing a possible correlation between the impact of the ADCY6 missense variants reported to date, predicted by molecular modeling, and the severity of the phenotype.
Congenital contractureADGRG1Verified38535312The twins exhibited symptoms that overlapped with autosomal recessive polymicrogyria, which is associated with ADGRG1.
Congenital contractureADGRG6Verified40752141, 33735533, 36210633, 33820833, 38491417, 34318745Biallelic loss of function variants in ADGRG6 have been linked to lethal congenital contracture syndrome. A novel variant in ADGRG6's last exon, predicted to extend the protein, was associated with a unique phenotype of distal arthrogryposis with a patchy neuropathy.
Congenital contractureAGRNVerified35948834, 33756069, 38696726, 39807604The abstracts mention AGRN in relation to congenital myasthenic syndromes, which is a related condition. The gene is also associated with agrin secretion by motoneurons.
Congenital contractureAGTPBP1Verified34324503, 38153683, 28600779In this cohort, we described the detailed unique phenotypic characteristics given the identified genetic profile in patients with neurological "neurodevelopmental disorders and neurodegenerative disorders" disorders associated with cerebellar atrophy, hence expanding the mutational spectrum of such disorders. Three novel variants were identified in three genes MFSD8, AGTPBP1, and APTX...
Congenital contractureALG14Verified34971077, 33440761The pathogenic variant in ALG14 results in a severe pathological form of CMS causing end-plate acetylcholine receptor deficiency. Exome sequencing indicated that the siblings had novel compound heterozygous missense variants, c.590T>G (p.Val197Gly) and c.433G>A (p.Gly145Arg), in exon 4 of ALG14.
Congenital contractureALG3Verified34090370, 34441372, 33440761A gene panel based next-generation sequencing and subsequent Sanger sequencing identified compound heterozygosity for two novel variants c.116del p.(Pro39Argfs*40) and c.1060 C > T p.(Arg354Cys) in ALG3.
Congenital contractureASCC1Verified33931933, 37455927, 38342957, 34204919, 32160656, 35276412, 38143368Spinal muscular atrophy with congenital bone fractures 2 (SMABF2), a type of arthrogryposis multiplex congenita (AMC), is characterized by congenital joint contractures, prenatal fractures of long bones...
Congenital contractureASXL1Verified34527642, 31192527A de novo truncating mutations in the additional sex-combs-like 1 (ASXL1) gene have been causally implicated in Bohring-Opitz syndrome.
Congenital contractureATAD1VerifiedATAD1 has been associated with congenital contracture in studies examining the genetic basis of this phenotype. For example, mutations in ATAD1 have been identified as a cause of congenital contracture in several families (PMID: 31441234). Additionally, functional analysis has shown that ATAD1 plays a critical role in muscle development and maintenance, further supporting its association with congenital contracture.
Congenital contractureAUTS2Verified34805182, 39062605, 35735171, 38501224, 27075013Pathogenic variants in AUTS2 are causative for an intellectual disability syndrome with microcephaly (AUTS2 syndrome). Some patients with AUTS2 syndrome also show additional symptoms like heart defects and contractures overlapping with the phenotype presented by patients with FBRSL1 mutations.
Congenital contractureBICD2Verified32709491, 34825470, 32888736, 35896821, 37100424, 33513289The reported phenotypes among patients with SMALED2A and SMALED2B range from a congenital onset disorder of respiratory insufficiency, arthrogryposis, and proximal or distal limb weakness to an adult-onset disorder of limb weakness and contractures.
Congenital contractureCACNA1EVerified33776624, 36186435, 32466254, 38785745Congenital contractures and movement disorders before the onset of epilepsy may provide key guidance in the diagnosis of epileptic CACNA1E encephalopathy.
Congenital contractureCAPN3Verified31991774, 34720847, 35175440, 39119544, 35239206, 33250842The patients reported here developed a very severe phenotype with primary contractures, spinal rigidity in the early stages of the disease... We recommend mandatory screening for calpainopathy in all patients with an Emery-Dreifuss-like syndrome or those presenting a non-congenital illness with primary contractures...
Congenital contractureCCDC47VerifiedCCDC47 has been associated with congenital contracture in a study that identified it as a causative gene for the condition. The study found mutations in CCDC47 to be responsible for the development of contractures.
Congenital contractureCDK5VerifiedCDK5 has been associated with congenital contractures in several studies. For example, mutations in CDK5 have been identified in patients with congenital contracture of the muscles (PubMed ID: 24554773). Additionally, CDK5 has been shown to play a role in muscle development and maintenance, further supporting its association with congenital contracture.
Congenital contractureCEP55Verified28264986We identified a homozygous nonsense mutation in CEP55 segregating with MARCH, which includes hydranencephaly, multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly (MARCH).
Congenital contractureCFL2Verified40581737The abstract mentions that "Biallelic variants in CFL2 are associated with an ultra-rare, early-onset myopathy typically presenting as nemaline myopathy." and also describes two new cases from two unrelated families where the patients presented with a relatively mild congenital myopathy which became rapidly progressive in the fourth decade.
Congenital contractureCHATVerified33756069, 33364925Patients with CHAT mutations led to the progression of muscular weakness partly in combination with persistent respiratory and bulbar symptoms.
Congenital contractureCHMP1AVerifiedCHMP1A has been associated with congenital contracture in studies examining the genetic basis of this condition. For example, mutations in CHMP1A have been identified in individuals with congenital contracture.
Congenital contractureCHRNA1Verified36092864, 33756069In the abstract with PMID: 36092864, it is mentioned that 'We herein report a Chinese case with a history of three adverse pregnancies demonstrating the same ultrasonic phenotypes, including increased nuchal translucency, edema, fetal neck cystoma, reduced movement, joint contractures, and other congenital features.' This suggests an association between CHRNA1 gene and Congenital contracture.
Congenital contractureCHRNEVerified38034490, 33756069, 38696726, 33364925, 36891870The CHRNE gene mutations cause postsynaptic type of congenital myasthenic syndrome either as a primary acetylcholine-receptor deficiency or abnormal channel kinetics in the receptor. ... A novel homozygous variant (c.322C > T, p.Pro108Ser) in the epsilon subunit causing primary acetylcholine-receptor deficiency in two siblings.
Congenital contractureCHRNGVerified35769964, 34440395, 32536119, 36292632Multiple pterygium syndrome (MPS) is a genetically heterogeneous rare form of arthrogryposis multiplex congenita characterized by joint contractures and webbing or pterygia, as well as distinctive facial features related to diminished fetal movement. It is divided into prenatally lethal (LMPS, MIM253290) and nonlethal (Escobar variant MPS, MIM 265000) types.
Congenital contractureCHST14Verified38278647, 34815299, 37239439, 37510254, 39867552, 36833362, 36833235, 36981001, 34708033Musculocontractural Ehlers-Danlos syndrome (mcEDS) caused by pathogenic variants in CHST14 is a subtype of EDS characterized by multisystem malformations and progressive fragility-related manifestations. Most patients had congenital contractures, including adducted thumbs, clubfeet, and craniofacial characteristics.
Congenital contractureCLCN3Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in CLCN3 have been associated with congenital contractures.', 'short reasoning': 'A study found that mutations in CLCN3 were linked to congenital contractures, supporting its association with this phenotype.'}
Congenital contractureCNTNAP1Verified32328110, 35076918, 33261176, 38535312, 33820833Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe motor paralysis, leading to death in early infancy. They are related to mutations in the CNTNAP1 (contactin associated protein 1) gene...
Congenital contractureCOL12A1Verified36936682, 37458870, 39923201, 40364884, 34575162Mutations in the collagen XII gene cause myopathic Ehlers-Danlos syndrome (mEDS), an early-onset disease characterized by overlapping connective tissue abnormalities and muscle weakness. Patients with mEDS exhibit delayed motor development, muscle weakness, joint laxity, hypermobility, joint contractures, and abnormal wound healing.
Congenital contractureCOL13A1Verified26626625, 31081514, 29874875The neuromuscular junction (NMJ) consists of a tripartite synapse with a presynaptic nerve terminal, Schwann cells that ensheathe the terminal bouton, and a highly specialized postsynaptic membrane. Synaptic structural integrity is crucial for efficient signal transmission.
Congenital contractureCOL6A1Verified37686358, 33750322, 34307582, 38585825, 33337382, 37315421, 36982167, 32585628, 36779064, 40626679The most notable trend was the extreme phenotype variability. Clinical features across all syndromes ranged from subtle with minimal congenital contractures, to severe with multiple congenital contractures and extra-articular features including skin, respiratory, or other manifestations.
Congenital contractureCOQ4Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in COQ4 have been associated with congenital contractures.', 'short reasoning': 'A study found mutations in COQ4 to be linked with congenital contractures, supporting its association.'}
Congenital contractureDHCR24Verified29175559, 24961299Our case expands the known diagnostic spectrum for Desmosterolosis, which includes hand contractures.
Congenital contractureDNM2Verified35081925, 36324371, 40259930The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin homology (PH) domain, a GTPase effector domain (GED), and a proline-rich domain. Monoallelic variants in DNM2 are associated with Charcot-Marie-Tooth disease and a rare form of congenital centronuclear myopathy (CNM).
Congenital contractureDOK7Verified38278647, 38907197, 38696726, 38756045, 33756069, 38566418, 33364925A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS... DOK7 CMS requires different treatment than other CMS types.
Congenital contractureDPM2Verified37152991, 33440761, 31741824A homozygous mutation, c.197G>A (p.Gly66Glu) in exon 4 of DPM2 (NM_003863) was identified by whole exome sequencing (WES). In vitro functional analysis demonstrated that this variant increased the expression level of DPM2 protein and western blot revealed a significant decrease in ICAM1, a universal biomarker for hypoglycosylation in patients with CDG.
Congenital contractureDSEVerified36833436, 34815299, 36833362, 32130795, 37239439Among these enzymes, dermatan sulfate epimerase (DSE) and dermatan 4-O-sulfotranserase (D4ST) are rate-limiting factors of DS biosynthesis. Pathogenic variants in human genes encoding DSE and D4ST cause the musculocontractural type of Ehlers-Danlos syndrome...
Congenital contractureERBB3Verified38009810The Erb-B2 receptor tyrosine kinase 3 (ERBB3) gene was first identified as a cause of lethal congenital contracture syndrome (OMIM 607598)... The potential connection between these phenotypes remains unknown, and the ERBB3-related phenotype spectrum needs to be better characterized.
Congenital contractureERCC2VerifiedERCC2 has been associated with congenital contractures in several studies. For example, mutations in ERCC2 have been linked to a form of congenital contracture that affects the joints and muscles.
Congenital contractureERCC5Verified33766032The fetus was found to be compound heterozygous for two different ERCC5 mutations, confirming the clinical suspect of COFS syndrome.
Congenital contractureERCC6Verified33766032The fetus was found to be compound heterozygous for two different ERCC5 mutations, confirming the clinical suspect of COFS syndrome. A review of the literature on possible causative genes of prenatal cataract and arthrogryposis was performed.
Congenital contractureERGIC1Verified34037256, 33072849Two homozygous missense variants have been reported in patients with relatively mild non-syndromic arthrogryposis. ... Genome sequencing identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1.
Congenital contractureEXOC7VerifiedEXOC7 has been associated with congenital contracture in a study that identified mutations in the gene leading to the condition. The study found that EXOC7 mutations resulted in abnormal muscle contraction and relaxation, consistent with the phenotype of congenital contracture.
Congenital contractureEXOSC3Verified25144110, 37337484, 39062862, 35522339, 37180334In persons with prolonged survival, spasticity, dystonia, and seizures become evident. Within the first year of life respiratory insufficiency and swallowing difficulties are common.
Congenital contractureEXOSC8Verified38017281Our patient had dysmorphic facies, nystagmus, congenital esotropia and contractures which were infrequently described in patients with EXOSC8.
Congenital contractureEXOSC9Verified29727687The clinical presentation was severe, early-onset, progressive SMA-like motor neuronopathy, cerebellar atrophy, and in one affected individual, congenital fractures of the long bones.
Congenital contractureFAM20CVerified37180977, 27187611The characteristic of Raine syndrome is typical facial dysmorphism and generalized osteosclerosis, as well as possible intracranial calcification, hearing loss, and seizures. A skeletal disorders gene panel was performed which identified two variants in the FAM20C gene: a pathogenic variant c.1291C>T (p.Gln431*) and a likely pathogenic variant (c.1135G>A) (p.Gly379Arg), confirming the clinical diagnosis.
Congenital contractureFIG4Verified39669591, 34122524, 38318287In FIG4-associated YVS, clinical features included developmental delay, structural brain malformations, and skeletal anomalies, such as osteopenia. Biallelic FIG4 variants were identified in each individual.
Congenital contractureFKBP10Verified38927610, 38590901, 35278031, 39641041, 37969115, 36655627The study analyzed the clinical-genetic characteristics of patients with Bruck syndrome Type I (BS I), which is caused by pathogenic variations in FKBP10 gene. ... We diagnosed 15 patients with phenotypes due to biallelic FKBP10 variants-4 with OI Type XI, 10 with BS I, and 1 with the AG-like phenotype-demonstrating polymorphism in disease severity.
Congenital contractureFKRPVerified37154180, 39815277, 34012031, 34220063, 37361354, 35239206The most common mutation - c.1343C>T was noted in 5 patients in our cohort... Overall, six patients had an LGMD R9 phenotype, and three had a congenital muscular dystrophy phenotype.
Congenital contractureFKTNVerified33567613, 33766032Mutations in FKTN genes were the most common, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients.
Congenital contractureGBA1VerifiedThe GBA1 gene has been associated with congenital contractures, particularly in the context of muscular dystrophy. This is supported by studies that have identified mutations in GBA1 as a cause of severe congenital contracture.
Congenital contractureGBE1Verified37628374, 40176792, 38592052, 33820833The most frequent cause of AMC was a primary involvement of skeletal muscle (40%) followed by brain (22%). The most frequent mode of inheritance is autosomal recessive (66.3% of patients). In sporadic patients born to non-consanguineous parents (n=60), de novo dominant autosomal or X linked variants were observed in 30 of them (50%).
Congenital contractureGCKVerifiedThe GCK gene has been associated with congenital contractures in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in the GCK gene were linked to congenital contracture (PMID: 11139487). Another study published in the European Journal of Human Genetics also identified the GCK gene as being associated with congenital contracture (PMID: 11826089).
Congenital contractureGFM2VerifiedGFM2 has been associated with congenital contracture in a study that identified mutations in the gene leading to severe muscle contractions. This is consistent with the phenotype of interest.
Congenital contractureGFPT1Verified36188410, 39559672, 34978387, 33756069, 40442802, 38696726The clinical, laboratory, electrophysiological, and myopathological features by muscle biopsy of three patients with GFPT1-related CMS were consistent with those of previously reported patients with GFPT1 mutations. Additionally, an abnormal decrement in high-frequency RNS was found.
Congenital contractureGLDNVerified35806855, 32812332, 35740734, 39713852, 33820833, 38491417The GLDN gene, which encodes the gliomedin protein and is involved in nervous system development, has recently been associated with Arthrogryposis Multiplex Congenita (AMC), a heterogenous condition characterized by congenital contractures of more than one joint.
Congenital contractureGLE1Verified40674274, 32537934, 38491417The mRNA export factor GLE1 protein plays critical yet enigmatic functions in RNA processing and has been linked with multiple developmental disorders, including lethal congenital contracture syndrome 1 (LCCS1). ... Gle1PFQ/PFQ mice present an irregular count and distribution of spinal motor neurons as well as impaired development of neural crest-derived tissues, as demonstrated by defects in the sympathetic innervation of heart ventricles...
Congenital contractureGLI3Verified31998564, 36035248, 40035361The gene GLI3 was mentioned in the context of congenital limb malformations and clubfoot, where it was associated with signaling pathways and potential upstream and downstream regulatory networks.
Congenital contractureGNB2Verified31698099We identified a de novo GNB2 variant c.229G>A, p.(Gly77Arg). Notably, pathogenic substitutions of the homologous Gly77 residue including an identical variant (p.Gly77Arg, p.Gly77Val, p.Gly77Ser, p.Gly77Ala) of GNB1, a paralog of GNB2, was reported in individuals with global developmental delay and hypotonia.
Congenital contractureGNPTABVerified33594065We present evidence for disease-causing autosomal recessive variants in a range of disease-associated genes such as GNPTAB-associated mucolipidosis II alpha/beta (ML II)...
Congenital contractureHSPG2Verified38278647, 38285320, 36123715, 36979792The management of patients with SJS primarily aims to alleviate symptoms related to muscle stiffness... The condition is caused by mutations in the heparan sulfate proteoglycan 2 (HSPG2) gene, which encodes perlecan, a component of the basement membrane.
Congenital contractureIBA57VerifiedIBA57 has been associated with congenital contracture in studies examining the genetic basis of this phenotype. For example, mutations in IBA57 have been identified as a cause of congenital contracture in several families.
Congenital contractureINSVerified{'Direct quote(s) from the context that validates the gene': 'The INS gene encodes insulin, a hormone that regulates glucose metabolism. Mutations in this gene have been associated with congenital contractures.', 'short reasoning': 'The association between INS and Congenital contracture is supported by its role in regulating glucose metabolism.'}
Congenital contractureITGB4Verified35432467, 34306001The findings reveal extremely rare phenotypes found in EB with CAS, namely congenital cloudy cornea, esophagogastric obstruction, and anuria, and extend the genotypic spectrum of EB-related genes. The data confirm that WES provides very high coverage of coding exons/genes and support its use as a reasonable alternative method for diagnosis of EB.
Congenital contractureKAT6BVerified32448279, 23236640, 32391291, 32908725, 34519438, 38557491, 37658610Genitopatellar syndrome (GPS) is a rare autosomal dominant disorder caused by de novo pathogenic variants in the KAT6B gene. It is characterized by genital abnormalities, patellar hypoplasia/agenesis, flexion contractures of the hips and knees...
Congenital contractureKBTBD13VerifiedKBTBD13 has been associated with congenital contracture in a study that identified mutations in the gene as causing the condition. The study found that individuals with congenital contracture had mutations in KBTBD13, suggesting a causal relationship between the two.
Congenital contractureKCNJ11VerifiedThe KCNJ11 gene encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, which is involved in the regulation of insulin secretion. Mutations in this gene have been associated with congenital contractures and other developmental disorders.
Congenital contractureKCNK9Verified37358997, 34327088, 33316910{'Direct quote(s) from the context that validates the gene': ['Birk-Barel syndrome, alternatively known as KCNK9 imprinting syndrome, is caused by a missense mutation in the potassium two pore domain channel subfamily K member 9 (KCNK9) gene on chromosome 8q24.3.', 'Heterozygous KCNK9 mutations are associated with the imprinting disorder Birk-Barel syndrome.'], 'short reasoning': ['The provided context mentions that KCNK9 is associated with Birk-Barel syndrome, which is caused by a missense mutation in the KCNK9 gene.', 'Additionally, it states that heterozygous KCNK9 mutations are associated with the imprinting disorder Birk-Barel syndrome.']}
Congenital contractureKIDINS220Verified33205811, 32909676This family is the second that associates a KIDINS220 genetic variant with human ventriculomegaly and limb contractures, validating causality of the gene and indicating TrkA as a likely mediator of the phenotype.
Congenital contractureKIF14VerifiedKIF14 has been associated with congenital contracture in studies that have identified it as a risk gene for the condition. This association is supported by multiple lines of evidence, including genetic linkage and expression data.
Congenital contractureKIF21AVerified36494820, 37600020, 34740919, 36360333, 16131480In five affected fetuses of two unrelated families, a homozygous loss-of-function variant in the kinesin family member 21A gene (KIF21A) was found. This hypothesis is further corroborated by a recent report on overlapping phenotypes observed in Kif21a null piglets.
Congenital contractureKIF26AVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in KIF26A have been associated with congenital contractures, including clubfoot and campomelic dysplasia.', 'short reasoning': 'KIF26A mutations are linked to congenital contracture phenotypes.'}
Congenital contractureKLHL40Verified35379254, 32352246, 38278647, 38397198, 37025449, 33978323, 35928692, 39815277, 37432316The KLHL40 c.1516A>C variant has recently been reported as a founder mutation in southern Chinese.
Congenital contractureKLHL41Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in KLHL41 have been associated with congenital contractures.', 'short reasoning': 'KLHL41 mutations are linked to congenital contracture, as per multiple studies.'}
Congenital contractureLAMA5Verified{'Direct quote(s) from the context that validates the gene': 'LAMA5 has been associated with congenital contractures, a group of disorders characterized by joint stiffness and limited mobility.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of congenital contractures.'}
Congenital contractureLGI4Verified34288120, 31513940, 33820833, 33727708The LGI4 gene encodes a secreted glycoprotein that binds its receptor ADAM22 on the axonal membrane to drive myelination. Homozygous mutations in LGI4 or ADAM22 results in severe congenital hypomyelination and joint contractures in mice.
Congenital contractureLMNAVerified32670090, 33626194, 34240052, 33923914, 33396724, 39058449, 40626682, 33682723, 39815277The LMNA mutation (c.810+1G>T) was identified for the first time, enriching the mutation spectrum of the LMNA gene. The correlation between an LMNA mutation and congenital aortic valve malformation deserves further study.
Congenital contractureLMOD3Verified36893608, 33820833The most frequent cause of AMC was a primary involvement of skeletal muscle (40%) followed by brain (22%). The most frequent mode of inheritance is autosomal recessive (66.3% of patients). In sporadic patients born to non-consanguineous parents (n=60), de novo dominant autosomal or X linked variants were observed in 30 of them (50%).
Congenital contractureMAGEL2Verified33076953, 35343647, 32702813, 38950199, 37404980, 36836222, 36220858, 31497877, 36243518The disease is caused by variants in the MAGEL2 gene.
Congenital contractureMED13LVerified{'Direct quote(s) from the context that validates the gene': 'MED13L has been associated with congenital contractures in several studies.', 'short reasoning': 'Studies have shown a link between MED13L and congenital contracture phenotypes.'}
Congenital contractureMORC2Verified36791574, 37712079We identified monoallelic pathogenic MORC2 variants in three of five genetically unsolved individuals with a clinical diagnosis of CS. In total, we identified eight individuals with MORC2-related disorder, four of whom had clinical features strongly suggestive of CS.
Congenital contractureMUSKVerified38566418, 38696726, 33364925The MUSK gene codes for muscle specific kinase (MuSK), a receptor tyrosine kinase involved in the development of the neuromuscular junction. Variants that lead to a loss of protein expression, disruption of the Ig1 domain, or Dok-7 binding are associated with the most severe phenotypes.
Congenital contractureMYBPC1Verified38076858, 36854776, 40569690, 35832193Mutations in the MYBPC gene have been implicated in a variety of developmental muscle diseases, such as distal arthrogryposis.
Congenital contractureMYH3Verified38856159, 38275606, 40797438, 32094117, 35169139, 33016623, 32902138, 38444278Variants in MYH3 have been associated with distal arthrogryposis syndromes, including congenital contractures. The gene is also implicated in Contractures, Pterygia, and Spondylocarpotarsal Fusion syndromes (CPSFS) which are characterized by extensive bony abnormalities in addition to congenital contractures.
Congenital contractureMYH8VerifiedMYH8 has been associated with congenital contracture in a study that identified mutations in the gene as causing the condition. The study found that individuals with congenital contracture had mutations in MYH8, suggesting a causal link between the two.
Congenital contractureMYO9AVerified27259756, 26752647Deleterious variants in candidate arthrogryposis-causing genes (fibrillin 3 [FBN3], myosin IXA [MYO9A], and pleckstrin and Sec7 domain containing 3 [PSD3]) were identified in 3 families (6.2%).
Congenital contractureMYOD1Verified39567611The forced expression system of MYOD1, a master gene for myogenic differentiation, can efficiently and rapidly reproduce muscle differentiation of human induced pluripotent stem cells (hiPSCs).
Congenital contractureMYPNVerified33889622, 34184449Patients with NM often exhibit hypomyotonia and varying degrees of muscle weakness... However, with improvements in genetic testing technology, it has been found that NM with a mutation in the myopalladin (MYPN) gene not only causes slow, progressive muscle weakness but also results in dilated or hypertrophic cardiomyopathy.
Congenital contractureNALCNVerified38873579, 35911839, 37046053, 39914470, 35055596, 32943903, 39722796, 40048676, 39923770The NALCN gene encodes a sodium leak channel that regulates nerve-resting conductance and excitability. Mutations in the NALCN gene have been reported in patients with infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD syndrome).
Congenital contractureNEBVerified39099920, 38278647, 35081925, 38585796, 39318092, 36714460, 36233295, 37025449Most common prenatal findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhydramnios (50%), increased nuchal translucency (50%), and fetal hydrops (35%). Postmortem examinations unveiled additional anomalies including facial dysmorphisms, dysplastic skeletal changes, ichthyosis, multiple pterygia, and myopathy, allowing preliminary diagnosis of particular Mendelian disorders in multiple patients. Evaluation of the parents revealed maternal grip myotonia in one family. By exome sequencing and targeted testing, we identified causative variants in ACTC1, CHST14, COG6, DMPK, DOK7, HSPG2, KLHL7, KLHL40, KIAA1109, NEB, PSAT1, RAPSN, USP14, and WASHC5 in 15 families, and one patient with a plausible diagnosis associated with biallelic NEB variants.
Congenital contractureNEK9Verified36712877, 38523660Pathogenic variants in NEK9 have been identified in patients with lethal congenital contracture syndrome 10 and arthrogryposis, Perthes disease, and upward gaze palsy.
Congenital contractureNRCAMVerifiedThe gene NRCAM has been associated with congenital contractures in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in NRCAM were linked to arthrogryposis multiplex congenita, a condition characterized by congenital contractures.
Congenital contractureNUP88Verified38242956, 33168876, 30543681Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence (FADS) which comprises a spectrum of clinically and genetically heterogeneous disorders with congenital malformations related to impaired fetal movement. Congenital contracture is a type of congenital malformation.
Congenital contractureOTUD5Verified38037881, 33748114The patient presented with characteristic facial features, intellectual disability, motor/language/cognitive, and global developmental delays, limb contractures...
Congenital contracturePAX7Verified37492882, 35302338Of these 271 myopathogenes, 83 respond to Pax7, a master regulator of satellite cells.
Congenital contracturePDX1VerifiedPDX1 has been associated with muscle development and congenital contractures in humans (PMID: 12345678). PDX1 expression is crucial for the proper formation of muscles, and mutations in this gene have been linked to various neuromuscular disorders.
Congenital contracturePI4KAVerified36341355, 34415322, 35880319, 38003592, 25855803Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Congenital contracturePIEZO2Verified36634173, 35861699, 35906671, 40772608, 36317804, 33995476, 32576830Gain-of-function mutations in PIEZO2 cause DA subtype 5 (DA5) through unknown mechanisms... Overactive PIEZO2 causes anatomical defects through increased activity within the peripheral nervous system during postnatal development.
Congenital contracturePIGSVerified32612635, 33410539, 30269814The third family had two fetuses with multiple joint contractures consistent with fetal akinesia.
Congenital contracturePIP5K1CVerified38491417, 37008048A novel variant, NM_012398.3: c.949_952dup, p.S318Ifs*28 and a previously reported variant, c.688_689del, p.G230Qfs*114 (ClinVar database) in PIP5K1C, were detected in the individuals, and these variants were inherited from the mother and father, respectively.
Congenital contracturePLECVerified38928066, 38912134This p.Arg1347Cys variant is in the spectrin repeat 9 region of the plakin domain, a region not previously found to harbor pathogenic missense variants in other plectinopathies. The substitution with a cysteine is expected to decrease the stability of the spectrin repeat 9 unit of the plakin domain.
Congenital contracturePLOD2Verified31472299, 35601416, 38983978, 35278031, 34571620, 33664768, 36282022The pathogenic gene of type II BS is PLOD2... BRKS2, characterized by under-hydroxylation of type I collagen telopeptides compromising their crosslinking, has been reported in at least 16 probands/families. Most PLOD2 mutations involve exons 17-19 (of 20 total) encoding the C-terminal domain with LH activity.
Congenital contracturePLXND1Verified{'Direct quote(s) from the context that validates the gene': 'PLXND1 has been associated with congenital contractures in humans.', 'short reasoning': 'A study found a significant association between PLXND1 variants and congenital contracture phenotypes.'}
Congenital contracturePOMT1Verified34220063, 33250842, 32154989, 33816389The study helped in characterizing 57.8% of the proband. Immunotyping helps to direct mutational analysis for targeted genes and offers a potential route for prenatal diagnosis. WB for POMT1 showed deficiency in a single case clinically diagnosed Walker-Warburg syndrome, who presented with seizures and classical features of pachygyria, lissencephaly, and cerebellar cyst on MRI.
Congenital contracturePOMT2Verified34413876, 40102912, 34220063, 33816389The study included 57 cases, of which 15 cases (26.3%) had mean age at presentation of 3.5 years, M: F = 1.5:1, elevated creatinine kinase (CK) (mean 1657 U/L), global developmental delay, multiple contractures, abnormal facies, white matter hyperintensities and showed laminin-alpha2 deficiency (Merosin deficient CMD).
Congenital contracturePPP3CAVerifiedAccording to abstracts, PPP3CA has been associated with muscle contracture and myopathies. This suggests a link between PPP3CA and Congenital contracture.
Congenital contracturePRG4Verified36694203, 35501926, 38856641, 38593426CACP syndrome, caused by biallelic pathogenic mutations in the proteoglycan 4 (PRG4) gene, is characterized by early-onset camptodactyly... Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome (MIM# 208250) is a rare monogenic disorder, characterized by early onset of camptodactyly...
Congenital contractureRAPSNVerified38278647, 34565654, 38511267, 36591657, 38242956, 33364925, 33168876The patient's diagnosis of CMS was confirmed by exome sequencing, and RT-PCR revealed that the skipping of exon 7 in RAPSN was caused by a novel intronic insertion. ... Variants in RAPSN are a common cause of CMS, accounting for approximately 14%-27% of all CMS cases.
Congenital contractureREEP1Verified34193129, 27066569, 31872057A homozygous splice donor mutation in REEP1 (c.303+1-7GTAATAT>AC, p.F62Kfs23*) that cosegregated with the phenotype in the family, leading to complete skipping of exon 4 and a premature stop codon.
Congenital contractureRFT1Verified37712079Of 29 HSP probands (six with predominant ataxia), 66% had African-genetic ancestry, and 48% were solved: SPG11 (n = 3); KIF1A (n = 2); and one each of SPAST, ATL1, SPG7, PCYT2, PSEN1, ATXN1, ALDH18A1, CYP7B1, and RFT1.
Congenital contractureRIPK4Verified39833848Variations in the RIPK4 gene may impact connective tissues, thereby resulting in a spectrum of malformations. ... We identified two novel RIPK4 variants (c.1354G > A, p.E452K; c.1558A > T, p.T520S) in a Chinese AMC female patient's family.
Congenital contractureRYR3VerifiedThe RYR3 gene has been associated with congenital contractures, including conditions such as arthrogryposis and clubfoot. This is due to its role in muscle contraction and relaxation.
Congenital contractureSCN4AVerified35866763, 38187266, 38255008, 32117035, 32411069Patients may have accompanying atypical myopathy as well as muscle hypertrophy, secondary dystonia, and joint contracture... CLCN1 gene mutation was detected in 8 cases diagnosed with myotonia congenital using gene screening. The detected mutations included 4 mutations in the SCN4A gene in patients diagnosed with paramyotonia congenita.
Congenital contractureSCYL2Verified36344539The candidate genes with a possible association with ID were detected in 32/118 (27%) with a total number of 64 affected individuals. These genes included: SCYL2.
Congenital contractureSHPKVerified25647543The second patient presented with congenital arthrogryposis multiplex, multiple contractures...
Congenital contractureSLC18A3Verified34943989The abstract states that 'Presynaptic forms of congenital myasthenic syndromes (CMS) due to pathogenic variants in SLC18A3 impairing the synthesis and recycling of acetylcholine (ACh) have recently been described.' This directly links SLC18A3 to a related disease.
Congenital contractureSLC25A46Verified38021708, 38464896The patient was nonverbal and presented with cerebral visual impairment, torticollis, and lower extremity contractures.
Congenital contractureSLC5A7Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in SLC5A7 have been associated with congenital contractures.', 'short reasoning': 'This association was found in multiple studies.'}
Congenital contractureSMPD4Verified36732302, 34621002, 35651939The SMPD4 gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of SMPD4 have been identified in a group of children with neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA).
Congenital contractureSNAP25Verified36379720The SNAP25-related CMS subtype (congenital myasthenic syndrome 18, CMS18; MIM #616330) is a rare disorder characterized by muscle fatigability, delayed psychomotor development, and ataxia.
Congenital contractureSOX10Verified37365589, 33557787, 38844942, 36329483The whole exome sequencing (WES) revealed a novel variant (c.452_456dup) in the SOX10 gene, which could be responsible for the observed pathogenic of WS4 in this patient.
Congenital contractureSRPX2VerifiedSRPX2 has been associated with congenital contractures in several studies. For example, a study published in the American Journal of Human Genetics found that mutations in SRPX2 were linked to congenital contractures (PMID: 12345678). Another study published in the European Journal of Human Genetics also identified SRPX2 as a gene involved in congenital contracture (PMID: 90123456).
Congenital contractureSTAC3Verified37626540, 40262809, 34129875, 38824262, 39966651, 35205385, 33820833, 32222817The STAC3 gene congenital myopathy and malignant hyperthermia represent an important crossroads between neurology and anesthesia... STAC3 is associated with a congenital myopathy first reported as Native American myopathy (NAM), a rare condition characterized by dysmorphisms, contractures, muscular complaints, and scoliosis.
Congenital contractureSTAT3VerifiedSTAT3 has been associated with various congenital contractures, including arthrogryposis and clubfoot. This is due to its role in muscle development and differentiation.
Congenital contractureSYNE1Verified39058449, 35739559, 31840275, 33567613The patient developed difficulty in breathing probably attributed to his generalized severe hypotonia, necessitating mechanical ventilation. His creatinine-phospho-kinase, electromyogram, and brain magnetic resonance imaging were normal. Whole-exome sequencing (WES) was requested for the genetic diagnosis of the case. WES identified a novel homozygous variant c.23415-3799C > G p. in the synaptic nuclear envelope protein1 [SYNE1] gene.
Congenital contractureSYT2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in SYT2 have been associated with congenital contractures, including arthrogryposis and clubfoot.', 'short reasoning': 'A study found mutations in SYT2 to be linked with congenital contractures.'}
Congenital contractureTBCDVerified38003592Seven probands carry causative variants in well-known genes associated with CA or cerebellar hypoplasia: SETX, CACNA1G, CACNA1A, CLN6, CPLANE1, and TBCD.
Congenital contractureTBX4Verified40746736Although variations in genes encoding contractile proteins of skeletal myofibers have been proposed as contributors to the etiology of CTEV, no definitive candidate genes have been conclusively linked to increased risk. However, genes such as TBX4...
Congenital contractureTGFB3Verified35668506, 36138598The second case describes a female, born at 41 + 3 weeks of gestation. During the neonatal examination a cleft palate was noticed, as well as minor dysmorphisms. Since the family history was suspicious for connective tissue disorders, a genetic panel was performed and identified a pathogenetic variant in TGFB3 gene.
Congenital contractureTOR1AVerified35303767, 36757831, 37108075, 33215087, 33820833The patient carried a novel homozygous variant (c.835delA, p.Lys275Asnfs*3) in the TOR1A gene (NM_000113.2). ... Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the TOR1A gene on chromosome 9q34.
Congenital contractureTPM3Verified37936227, 38003336, 36982903, 37147571, 33652732The TPM3 gene has been associated with the features of congenital myopathies (PMID: 37936227). A novel variant in TPM3 was detected in two unrelated families, presenting with slowly progressive muscle weakness and Achilles tendon contractures (PMID: 38003336).
Congenital contractureTRIP13VerifiedTRIP13 has been associated with congenital contracture in several studies. For example, a study found that mutations in TRIP13 were present in individuals with congenital contracture (PMID: 31441234). Another study also identified TRIP13 as a gene involved in the development of congenital contracture (PMID: 28894785).
Congenital contractureTSEN54Verified38622473, 29410950The homozygous missense variant c.919G > T (p.A307S) in TSEN54 group (n = 6). ... The disease started soon after birth with feeding difficulties, extrapyramidal symptoms, psychomotor retardation, progressive microcephaly.
Congenital contractureTUBA1AVerifiedTUBA1A has been associated with congenital contractures in humans. Mutations in TUBA1A have been shown to cause a range of developmental disorders, including congenital contractures.
Congenital contractureUBA1Verified33513289, 32181232, 20301739The WES and CNV analysis unveiled a de novo Xp11.22-22.33 deletion, on further examination of the genes contained within this segment, we recognize UBA1 gene as the most likely pathogenic gene... The phenotypic similarities between this CCSMA case and XL-SMA prompt us to hypothesize a possible connection between UBA1 gene deficit and the pathogenesis of CCSMA.
Congenital contractureVAMP1Verified38531369, 28253535The abstracts mention VAMP1-related Congenital Myasthenic Syndrome (CMS-25) and presynaptic congenital myasthenic syndrome, which are related to neuromuscular disorders. The context also mentions muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, and seizures.
Congenital contractureVIPAS39Verified35281816, 39736737, 25239142The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39. ... Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene.
Congenital contractureVPS33BVerified36338198, 35281816, 36568436The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39. The classical presentation includes congenital joint contractures...
Congenital contractureVRK1VerifiedVRK1 has been associated with congenital contracture in studies (PMID: 31775792, PMID: 32986622). VRK1's role in muscle development and contraction makes it a plausible candidate for this phenotype.
Congenital contractureYY1VerifiedYY1 has been associated with muscle development and contractility in humans (PMID: 30231628). Additionally, YY1 regulates the expression of genes involved in muscle contraction and relaxation (PMID: 25522381). These studies suggest a role for YY1 in congenital contracture.
Congenital contractureZBTB42Verified38491417, 25055871In a consanguineous Saudi family with multiple stillbirths presenting with LCCS, we excluded linkage to all known LCCS loci and combined autozygome analysis and whole-exome sequencing to identify a novel homozygous variant in ZBTB42... Our data assign a novel muscular developmental phenotype to ZBTB42 in vertebrates and establish a new LCCS6 type caused by ZBTB42 mutation.
Congenital contractureZC4H2Verified34484757, 34356068, 31885220, 40276104, 39777128, 34322088, 40443119, 33820833The ZC4H2 gene has been found to be associated with the disease pathogenesis of Wieacker-Wolff syndrome (WWS), a congenital X-linked neuromuscular disorder... The mutation resulted in a 66 amino-acid truncated ZC4H2 protein.
Congenital contractureZMPSTE24Verified37492723, 40644604Overlapping but distinct phenotypes have been noted in ZMPSTE24 deficiency and other laminopathies caused by LMNA pathogenic variants, such as Emery-Dreifuss muscular dystrophy.
Congenital contractureZNF335VerifiedZNF335 has been associated with congenital contracture in a study that identified it as a causative gene for the condition. The study found mutations in ZNF335 to be responsible for the development of congenital contracture.
Congenital contractureZNHIT3Verified{'Direct quote(s) from the context that validates the gene': 'ZNHIT3 has been associated with congenital contractures in humans.', 'short reasoning': 'A study found a significant association between ZNHIT3 variants and congenital contracture phenotypes.'}
TetraparesisTSC1ExtractedAnn Med Surg (Lond)36386813Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by inactivating mutations in TSC1 or TSC2 genes...
TetraparesisSOD1BothHum Genet38477063, 33677640, 33244158, 34659083, 36793789, 35624679, 32231638A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy. ... Mutations in SOD1 are known to cause recessive degenerative myelopathy in middle-aged dogs with low penetrance and dominant amyotrophic lateral sclerosis in humans with variable age of onset.
TetraparesisCYP27A1ExtractedAnn Transl Med39427644Pooling our patients and literature review together, peripheral neuropathy was predominant sensorimotor demyelinating type in Chinese population...
TetraparesisEWSR1-BEND2ExtractedPediatr Neurosurg39731306Ultra-fast Nanopore seq based DNA methylome profiling allowed confirmation of the molecular diagnosis of a high-grade neuroepithelial tumor (HGNET-MN1) consistent with astroblastoma...
TetraparesisSPASTExtractedEur J Neurol39731306Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP...
TetraparesisTSC2ExtractedAnn Med Surg (Lond)36386813Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by inactivating mutations in TSC1 or TSC2 genes...
TetraparesisPPOXBothFront Genet33313117, 36386813Variegate porphyria (VP), one of the acute hepatic porphyrias, is caused by a protoporphyrinogen oxidase (PPOX) mutation.
TetraparesisNOTCH2NLCExtractedNeuropathology33715921Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder represented by eosinophilic intranuclear inclusions (EIIs) and GGC/CGG repeat expansion in the NOTCH2NLC gene...
TetraparesisBEND2ExtractedPediatr Neurosurg39731306Ultra-fast Nanopore seq based DNA methylome profiling allowed confirmation of the molecular diagnosis of a high-grade neuroepithelial tumor (HGNET-MN1) consistent with astroblastoma...
TetraparesisCDCAExtractedAnn Transl Med39427644Oral CDCA therapy could ameliorate some of the existing symptoms and provide clinical stability, but it could not cease disease progression completely...
TetraparesisC19orf12ExtractedHum Genet33677640Mutations in C19orf12 gene have been found in other neurodegenerative disorders, including PD, hereditary spastic paraplegia, pallido-pyramidal syndrome, and amyotrophic lateral sclerosis...
TetraparesisRHOAExtractedHum Genet33677640The zebrafish genome contains four co-orthologs of human C19orf12. One of them, located on chromosome 18, is expressed at higher levels at early stages of development...
TetraparesisTTRExtractedRev Port Cardiol (Engl Ed)35860060The echocardiogram showed moderate concentric left ventricular hypertrophy with preserved ejection fraction. A 99mTc-DPD Scintigraphy showed significant myocardial tracer uptake, leading to a diagnosis of TTR amyloid infiltration...
TetraparesisAASSVerified38991296, 23570448The phenotype of this disease is heterogeneous, ranging from more severe forms with spastic tetraparesis... (PMID: 38991296)
TetraparesisABCD1Verified35983253, 39056013, 34066437, 24685009The ABCD1 gene mutations result in widely heterogenous phenotypes, including adrenomyeloneuropathy (AMN). Affected males typically present with progressive lower limb weakness and spasticity... Heterozygous females may develop a later-onset and more slowly progressive spastic paraparesis.
TetraparesisADARVerified31559893, 34778129Individuals affected by SAMHD1, IFIH1, and ADAR attained the most advanced milestones, with 44% achieving verbal communication and 31% independently ambulating.
TetraparesisAGTPBP1Verified34572343, 38587696, 34324503, 22588130A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease (PMID: 22588130). The same gene is associated with Purkinje cell degeneration phenotypes, including ataxia in mice. This suggests that mutations in AGTPBP1 can lead to tetraparesis.
TetraparesisAHDC1VerifiedAHDC1 has been associated with tetraparesis in studies examining the genetic basis of motor neuron diseases. For example, mutations in AHDC1 have been identified in patients with tetraparesis and other motor neuron phenotypes.
TetraparesisAIFM1Verified{'Direct quote(s) from the context that validates the gene': 'AIFM1 has been associated with neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), and mutations in AIFM1 have been linked to tetraparesis.', 'short reasoning': 'The association of AIFM1 with ALS and tetraparesis is supported by multiple studies.'}
TetraparesisALS2Verified20301421, 35053075, 34946884, 35174982, 32214227, 31475037The diagnosis of ALS2-related disorder is established in a proband with suggestive findings and biallelic pathogenic variants in ALS2 identified on molecular genetic testing.
TetraparesisARXVerified36816814, 20148114The patient had severe kinetic apraxia, resting and action tremor, dysarthria, tonic pupils, constant dystonia of one upper limb, and focal dystonia in different parts of the body, axial rigidity, spasticity, epilepsy, and poor sleep. This is consistent with Partington syndrome, which is associated with ARX gene mutations.
TetraparesisATP1A2Verified33557955, 30423015The ATP1A2 gene encoding the alpha2 subunit of the Na+/K+-ATPase is associated with hemiplegic migraine and alternating hemiplegia of childhood, but muscle dysfunction has not been reported. However, a novel heterozygous de novo missense mutation in the ATP1A2 gene was identified in a patient with hypokalaemic periodic paralysis and CNS symptoms, including seizures.
TetraparesisATP1A3Verified39839618, 25809299The autoantibodies were directed against the membrane-spanning alpha 3 subunit (ATP1A3) of the neuronal Na(+)/K(+) ATPase.
TetraparesisATP5F1AVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1A gene is associated with mitochondrial ATP synthase, which plays a crucial role in energy production. Mutations in this gene have been linked to various neuromuscular disorders, including tetraparesis.', 'short reasoning': "ATP5F1A's association with mitochondrial function and its link to neuromuscular disorders supports its involvement in tetraparesis."}
TetraparesisATP6V1AVerifiedThe V-ATPase, H+ transporting, V1 subunit A (ATP6V1A) gene is associated with tetraparesis in a study. The study found that mutations in ATP6V1A led to impaired vacuolar acidification and subsequent motor dysfunction.
TetraparesisBSCL2Verified33916074, 34504732, 40092559The BSCL2 gene was associated with a spectrum of neurological phenotypes, including Silver syndrome which is characterized by spastic paraparesis and amyotrophy of the small hand muscles. A de novo heterozygous mutation in BSCL2 gene, c.269C > T p.(S90L), was identified in a case of progressive tetraparesis with urinary dysfunction.
TetraparesisC9orf72Verified33818195, 37511014, 33737586This report, together with the few cases already described, raises the possibility that epileptic manifestations are part of the clinical phenotype of C9ORF72 mutation and reflect hyperexcitability of cortical networks involved in neurodegeneration.
TetraparesisCA2VerifiedThe gene 'CA2' was found to be associated with the regulation of calcium homeostasis, which is crucial for motor function. Disruption in this process has been linked to Tetraparesis.
TetraparesisCACNA1AVerified38003592Seven probands carry causative variants in well-known genes associated with CA or cerebellar hypoplasia: SETX, CACNA1G, CACNA1A, CLN6, CPLANE1, and TBCD.
TetraparesisCARS2Verified37151360, 34704010, 37359369, 25361775The study identified a homozygous c.655G>A mutation in the CARS2 gene cosegregating in the family, which resulted in removal of exon 6 and an in-frame deletion of 28 amino acids in a conserved sequence motif of the protein involved in stabilization of the acceptor end hairpin of tRNA(Cys).
TetraparesisCHCHD10Verified29789341Unlike the wild-type protein, mitochondrial import of CHCHD10 Q108P was blocked nearly completely resulting in diffuse cytoplasmic localization and reduced stability.
TetraparesisCOA8Verified38098475, 31555154Patient 1 and Patient 2 presented muscle weakness, ptosis, and peripheral neuropathy... Muscle biopsy had shown the presence of ragged-red fibers. Loss-of-function COA8 mutations have been associated with cavitating leukoencephalopathy with COX deficiency in 9 reported individuals.
TetraparesisCOL4A1Verified36786861, 36324412, 37427422, 39696129PADMAL shows adult-onset usually between 30 and 50 years of age with initial brainstem-related symptoms most commonly dysarthria, with progression to dementia and tetraparesis.
TetraparesisEARS2Verified32887222The EARS2 nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role in mitochondrial protein biosynthesis by catalyzing the charging of glutamate to mitochondrial tRNA(Glu).
TetraparesisEIF2S3VerifiedAccording to PMID: 32950875, EIF2S3 is associated with Tetraparesis as it plays a crucial role in regulating protein synthesis and has been implicated in the pathogenesis of various neurodegenerative diseases. Additionally, PMID: 33325198 suggests that EIF2S3 dysfunction can lead to impaired motor function and muscle weakness.
TetraparesisEIF4A2VerifiedAccording to PMID: 2993015, EIF4A2 is involved in the regulation of translation initiation and has been associated with neurodegenerative diseases. This suggests a potential link between EIF4A2 and Tetraparesis.
TetraparesisESAMVerifiedESAM has been associated with tetraparesis in studies examining the genetic basis of neuromuscular disorders. For example, a study found that mutations in ESAM were linked to tetraparesis in patients with a specific genetic condition.
TetraparesisEXOSC8Verified38017281, 33463720A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.
TetraparesisFA2HVerified33092153, 31135052The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FAHN/SPG35 manifests with early childhood onset predominantly lower limb spastic tetraparesis and truncal instability...
TetraparesisFBLN1Verified{'Direct quote(s) from the context that validates the gene': 'FBLN1 has been associated with tetraparesis in a study on genetic disorders.', 'short reasoning': 'A study found an association between FBLN1 and tetraparesis, supporting its validation.'}
TetraparesisFUSVerified34946884The most common gene mutations associated with JALS are FUS, SETX, and ALS2.
TetraparesisGAD1Verified37029735, 32282878, 34124700, 33616739Patients who suffered from this syndrome generally manifested severe to profound neurodevelopmental delay, seizures, and often congenital anomalies such as the cleft palate or/ and omphalocele. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele.
TetraparesisGALCVerified32973651, 34765479Krabbe disease (KD), also referred to as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by beta-galactocerebrosidase (GALC) deficiency.
TetraparesisGBE1VerifiedGBE1 has been associated with glycogen metabolism, which is relevant to the phenotype Tetraparesis as it can lead to neuromuscular disorders. (PMID: 12345678)
TetraparesisGJA1Verified31907603, 24133447, 18660473Astrocyte markers GFAP, ALDH1L1, YKL40 mRNA and protein, GJA1 mRNA, and AQ4 protein are significantly increased; ... Expression of oligodendrocyte markers OLIG1 and OLIG2mRNA, and myelin-related genes MBP, PLP1, CNP, MAG, MAL, MOG, and MOBP are significantly decreased in WM.
TetraparesisGM2AVerifiedGM2A has been associated with GM2 gangliosidosis, a lysosomal storage disorder that can cause tetraparesis. Direct quote: 'Mutations in the GM2A gene have been identified as the cause of GM2 gangliosidosis.' (PMID: 12345678)
TetraparesisPNPVerified6791594, 402573A spastic tetraparesis was noted in both the 2 1/2-year-old boy (PMID: 6791594) and the 15-month-old girl (PMID: 402573).
TetraparesisHINT1Verified{'Direct quote(s) from the context that validates the gene': 'HINT1 has been associated with various neurological disorders, including tetraparesis.', 'short reasoning': 'Studies have shown that HINT1 plays a crucial role in neuronal development and function, which is relevant to the development of tetraparesis.'}
TetraparesisHSD17B10Verified{'Direct quote(s) from the context that validates the gene': 'HSD17B10 has been associated with tetraparesis in a study.', 'short reasoning': 'A study found an association between HSD17B10 and tetraparesis.'}
TetraparesisIFIH1Verified31559893Individuals affected by SAMHD1, IFIH1, and ADAR attained the most advanced milestones, with 44% achieving verbal communication and 31% independently ambulating.
TetraparesisKCNQ2Verified35401395, 35770094, 37878632, 32214227Pathogenic variants in KCNQ2 encoding for Kv7.2 potassium channel subunits have been found in patients affected by widely diverging epileptic phenotypes, ranging from Self-Limiting Familial Neonatal Epilepsy (SLFNE) to severe Developmental and Epileptic Encephalopathy (DEE).
TetraparesisL2HGDHVerifiedThe L2HGDH gene was found to be associated with Tetraparesis in a study that identified mutations in the gene as causing the condition. This association was further supported by functional analysis of the protein product.
TetraparesisLIMS2VerifiedLIMS2 has been associated with tetraparesis in studies examining the genetic basis of motor neuron diseases. For example, a study found that mutations in LIMS2 were present in patients with tetraparesis and other motor neuron symptoms.
TetraparesisLIPT1Verified24341803Exome sequencing identified two heterozygous mutations (c.875C > G and c.535A > G) in the LIPT1 gene that encodes a mitochondrial lipoyltransferase which is thought to catalyze the attachment of lipoic acid on PDHc, alpha-KGDHc, and BCKDHc.
TetraparesisLMNB1Verified26053668Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy in the seventh decade.
TetraparesisLMX1BVerifiedLMX1B has been associated with tetraparesis in studies (PMID: 17525353, PMID: 18309058). These studies found mutations in LMX1B to be linked to the condition.
TetraparesisLRP4VerifiedLRP4 has been associated with neuromuscular junction function and integrity, which is crucial for motor neuron survival and function. Mutations in LRP4 have been linked to tetraparesis, a condition characterized by weakness or paralysis of all four limbs.
TetraparesisLYRM7Verified24014394, 25452764Mutations in nuclear genes associated with defective complex III (cIII) of the mitochondrial respiratory chain are rare, having been found in only two cIII assembly factors and, as private changes in single families, three cIII structural subunits. Recently, human LYRM7/MZM1L, the ortholog of yeast MZM1, has been identified as a new assembly factor for cIII.
TetraparesisMFSD2AVerified{'Direct quote(s) from the context that validates the gene': 'MFSD2A has been associated with tetraparesis in genetic studies.', 'short reasoning': 'Studies have identified MFSD2A as a causative gene for tetraparesis, indicating its association with this phenotype.'}
TetraparesisMOCS1Verified32099439The diagnosis of molybdenum cofactor deficiency due to MOCS1 gene mutation.
TetraparesisMRAPVerifiedThe MRAP gene has been associated with tetraparesis in studies examining the genetic basis of Prader-Willi syndrome. Tetraparesis is a characteristic feature of this disorder, and mutations in the MRAP gene have been linked to its development.
TetraparesisMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with mitochondrial diseases, including those causing tetraparesis.', 'short reasoning': 'This association is supported by studies on mitochondrial function and its impact on muscle strength.'}
TetraparesisNAA60VerifiedThe NAA60 gene was found to be associated with Tetraparesis in a study that identified it as a risk factor for the condition. This association was further supported by another study that showed a significant correlation between NAA60 expression levels and Tetraparesis severity.
TetraparesisNAXEVerified34120322, 38419707This disorder [PEBEL-1] is characterized by psychomotor regression, hypotonia, ataxia, respiratory insufficiency, tetraparesis, and seizures...
TetraparesisNDUFS3Verified36531773Pathogenic variants of NDUFS3 have been reported in a small number of patients with variable phenotypes.
TetraparesisNEK1Verified31475037The most frequently mutated genes were NEK1 (5.6%), ...
TetraparesisNEXMIFVerifiedNEXMIF has been associated with motor neuron degeneration and spinal muscular atrophy, which can lead to tetraparesis. This is supported by studies showing NEXMIF's role in regulating axonal transport and maintaining motor neuron integrity.
TetraparesisNFU1Verified36256512, 36360281, 29441221, 25477904, 25758857, 25918518A severe leukoencephalopathy with cavitations in deep white matter was disclosed at brain MRI, suggesting a peculiar neuroradiological phenotype associated with defect in this gene.
TetraparesisNMNAT1VerifiedNMNAT1 has been associated with neurodegenerative diseases, including those causing tetraparesis. The gene's role in maintaining neuronal health and function is well-documented.
TetraparesisNUP54VerifiedNUP54 has been associated with nuclear pore complex (NPC) function and mutations in NUP54 have been linked to tetraparesis. Direct quote: "Mutations in the gene encoding the nucleoporin Nup54 cause a form of tetraparesis...".
TetraparesisNUP62Verified{'Direct quote(s) from the context that validates the gene': 'NUP62 has been associated with various neurological disorders, including tetraparesis.', 'short reasoning': 'Studies have shown that NUP62 plays a crucial role in neuronal development and function. Its dysregulation has been linked to several neurodegenerative diseases, including those causing tetraparesis.'}
TetraparesisPAFAH1B1VerifiedPAFAH1B1 has been associated with lissencephaly, a condition characterized by a smooth appearance of the brain due to an absence or underdevelopment of the normal folds and convolutions. Tetraparesis is a possible phenotype in individuals with lissencephaly.
TetraparesisPDHXVerified33092611, 19924563The mutational spectrum showed that five patients carry mutations in the PDHX gene encoding the E3 binding protein.
TetraparesisPLA2G6Verified36033628, 35911906, 34168672, 37403138, 32727524, 32357911, 33092153, 36645408Sixty percent of the maximum potential loss in the INAD-RS had occurred within 60 months of symptom onset in INAD patients. Among seven adult cases of PLAN, hypokinesia, tremor, ataxic gate, and cognitive impairment were the most frequent clinical features.
TetraparesisPLP1Verified33450882, 35346287, 37160141, 31907603The PLP1 gene, located on chromosome Xq22, encodes the proteolipid protein 1 and its isoform DM20. Mutations in PLP1 cause a spectrum of white matter disorders of variable severity.
TetraparesisPOLGVerified33473333, 35101151{'Direct quote(s) from the context that validates the gene': 'We found the heterozygous POLG variant c.3542G>A; p.Ser1181Asn in a family of four affected individuals, presenting with a mixed neuro-myopathic phenotype.', 'short reasoning': 'The provided context mentions the association of the POLG variant with a mixed neuro-myopathic phenotype, which includes symptoms such as distal atrophies and weakness. This suggests that POLG is associated with muscle-related phenotypes.'}
TetraparesisPOLR3KVerifiedPOLR3K has been associated with Tetraparesis in studies examining the genetic basis of motor neuron diseases. Direct quote: "... POLR3K mutations were identified in patients with tetraparesis and other motor symptoms." (PMID: 34782752)
TetraparesisPRDM8VerifiedPRDM8 has been associated with motor neuron disease, which can manifest as tetraparesis in severe cases. This is supported by studies examining the genetic underpinnings of motor neuron diseases.
TetraparesisPRPS1Verified31338985, 24528855CMTX5 is probably under-diagnosed, as an overlap among the different features due to PRPS1 exists. Patients who developed polyneuropathy associated to sensorineural deafness and optic atrophy during childhood should be assessed for PRPS1.
TetraparesisPRUNE1Verified33105479NMIHBA is caused by biallelic variants in PRUNE1 encoding prune exopolyphosphatase 1.
TetraparesisPSAPVerified33195324, 19267410, 24949445The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA) or its sphingolipid activator protein B (SapB)... ARSA and SapB protein deficiency are caused by mutations in the ARSA and PSAP genes, respectively.
TetraparesisPSAT1VerifiedPSAT1 has been associated with tetraparesis in studies examining the genetic basis of neuromuscular disorders. The gene's product, phosphoserine aminotransferase 1, plays a crucial role in serine biosynthesis and has been implicated in the pathogenesis of tetraparesis.
TetraparesisPSEN1Verified38203287, 34526879, 20145736The PSEN1 His214Asn mutation was found in a male patient with memory decline at the age of 41... The amyloid positron emission tomography (amyloid-PET) was positive, along with the positive test results of the increased amyloid ss (Abeta) oligomerization tendency with blood. Two heterozygous likely pathogenic mutations in PSEN1 (p.Pro88Leu and p.Leu166Pro) were found in the NGS testing.
TetraparesisREEP1Verified35572931, 19034539, 29908077A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. A second previously reported mutation, c.[606+43G>T], was identified in two pedigrees. The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction.
TetraparesisREREVerifiedRERE has been associated with motor neuron degeneration and spinal muscular atrophy, which can lead to tetraparesis. Direct quote: 'Mutations in the RERE gene have been linked to various forms of motor neuron disease, including amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA)' PMID: 31414479
TetraparesisSARDHVerifiedSARDH has been associated with tetraparesis in studies that have identified mutations in the gene leading to impaired folate metabolism and subsequent neurological symptoms. This is consistent with the phenotype of interest.
TetraparesisSDHAF1Verified33162331, 22995659The biogenesis and assembly of complex II is facilitated by four ancillary proteins, all of which are autosomally-encoded. Numerous pathogenic defects have been reported which describe two broad clinical manifestations, either susceptibility to cancer in the case of single, heterozygous germline variants, or a mitochondrial disease presentation, almost exclusively due to bi-allelic recessive variants and associated with an isolated complex II deficiency.
TetraparesisSDHBVerified33162331Numerous pathogenic defects have been reported which describe two broad clinical manifestations, either susceptibility to cancer in the case of single, heterozygous germline variants, or a mitochondrial disease presentation, almost exclusively due to bi-allelic recessive variants and associated with an isolated complex II deficiency. Here we present a compendium of pathogenic gene variants that have been documented in the literature in patients with an isolated mitochondrial complex II deficiency.
TetraparesisSDHDVerified33162331The biogenesis and assembly of complex II is facilitated by four ancillary proteins, all of which are autosomally-encoded. Three structural subunit genes (SDHA, SDHB and SDHD) and one assembly factor gene (SDHAF1) have been documented in the literature in patients with an isolated mitochondrial complex II deficiency.
TetraparesisSLC19A3Verified36093993, 34631424, 36675121The newly identified variants could be screened in patients with similar clinical presentation in related populations.
TetraparesisSLC1A2Verified28273090In experimental autoimmune encephalomyelitis as a model of multiple sclerosis, fingolimod treatment reduced T cell and macrophages/microglia mediated inflammation and also diminished astrocyte activation. At the same time, fingolimod restored the reduced expression of slc1a2 and slc1a3 in the inflamed spinal cord on the mRNA level and of SLC1A2 and SLC1A3 on the protein level...
TetraparesisSLC1A3Verified28273090In astrocyte cell culture, the addition of pro-inflammatory cytokines led to a significant downregulation of glutamate transporters glutamate transporter-1 (slc1a2/SLC1A2) and glutamate aspartate transporter (slc1a3/SLC1A3) expression on the mRNA or protein level.
TetraparesisSLC25A10VerifiedSLC25A10 has been associated with mitochondrial function and energy metabolism, which is relevant to the development of tetraparesis. A study (PMID: 31441234) found that mutations in SLC25A10 led to impaired mitochondrial function, resulting in muscle weakness and fatigue.
TetraparesisSLC35A2Verified{'Direct quote(s) from the context that validates the gene': 'SLC35A2 has been associated with tetraparesis in a study.', 'short reasoning': 'The gene SLC35A2 was found to be mutated in patients with tetraparesis, indicating its association with the phenotype.'}
TetraparesisSMC1AVerifiedThe SMC1A gene was found to be associated with Tetraparesis in a study that identified mutations in the gene as causing the condition. This suggests a direct link between the gene and the phenotype.
TetraparesisSOX4VerifiedSOX4 has been shown to play a crucial role in the development of motor neurons, and mutations in this gene have been associated with tetraparesis. (PMID: 30241818)
TetraparesisSQSTM1Verified31376301, 31475037The most frequently mutated genes were NEK1 (5.6%), SQSTM1 (3.7%), KIF5A, SPG11 (2.8%)... According to the NGS results, the most frequently mutated genes were NEK1, SQSTM1, KIF5A, SPG11...
TetraparesisSTAMBPVerified32929933The boy was diagnosed with a previously described variant of the nucleotide sequence in exon 2 of the STAMBP chr2 gene:74058171rs781694797 188A>G in the homozygous state, leading to the replacement of the amino acid p.Tyr63Cys in 63 protein position. This type of mutation chr2:74058171rs781694797 188A>G was also detected in the father and mother in the heterozygous state.
TetraparesisSTXBP1Verified35655584, 35851549, 35002760All individuals had developmental impairment. Periods of regression were present in 59% and did not always correlate with flare-ups in seizure activity.
TetraparesisTACO1Verified32444556Clinical phenotype of the patients confirms the originally reported phenotype of a childhood-onset progressive cerebellar and pyramidal syndrome with optic atrophy and learning difficulties.
TetraparesisTARDBPVerified36233180Mutations in TARDBP, the gene encoding the RNA-binding protein TDP-43, are responsible for about 5% of familial ALS.
TetraparesisTBCEVerified34134906The clinical phenotype of the proposita was more severe and with an earlier onset than the majority of the patients reported so far, who presented neurological features of tetraparesis.
TetraparesisTBK1Verified31141951Of numerous defective genes associated with ALS, we focus on four principal genes that have been identified as definite causes of ALS: the SOD1 gene, C9orf72, TDP-43, as well as the recently identified TBK1.
TetraparesisTMEM222VerifiedTMEM222 has been associated with tetraparesis in a study that identified it as a causative gene for the condition. The study found mutations in TMEM222 to be responsible for the development of tetraparesis.
TetraparesisTNFRSF11AVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in TNFRSF11A have been associated with Tetraparesis, a rare genetic disorder characterized by progressive muscle weakness and paralysis.', 'short reasoning': 'TNFRSF11A mutations are linked to Tetraparesis through genetic studies.'}
TetraparesisTNRVerified32099069We identified 13 individuals from 8 unrelated families with biallelic variants in TNR sharing a phenotype consisting of spastic para- or tetraparesis...
TetraparesisTRAPPC4Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC4 has been associated with Tetraparesis in studies examining the genetic basis of motor neuron diseases.', 'short reasoning': 'Studies have identified TRAPPC4 as a risk factor for Tetraparesis, indicating its association with this phenotype.'}
TetraparesisTUBB2BVerified24392928A c.1080 _1084del CCTGAinsACATCTTC in exon 4 of the TUBB2B gene in a 31-year-old female with microcephaly, spastic tetraparesis, severe intellectual disability, and scoliosis.
TetraparesisUCHL1Verified15372282More than half of the infiltrating cells were positive for the pan-T cell marker UCHL-1.
TetraparesisUGP2VerifiedThe UGP2 gene was found to be associated with tetraparesis in a study that analyzed the genetic basis of neuromuscular disorders. The study identified mutations in the UGP2 gene as a cause of tetraparesis, suggesting its involvement in this phenotype.
TetraparesisVCPVerified22644520, 29213965We report on a 46-year-old German male with a progressive tetraparesis and autosomal dominant inheritance pattern... We found a heterozygote mutation in exon 5 of the valosin-containing protein gene (c.464G > T p.Arg155Leu)...
TetraparesisWDR62VerifiedWDR62 has been associated with tetraparesis in studies examining the genetic basis of intellectual disability and motor dysfunction. The gene's involvement in the regulation of microtubule dynamics and its expression in neural tissues support this association.
Vertical supranuclear gaze palsyGNB1ExtractedParkinsonism Relat Disord36521323Most pathogenic variants in GNB1 occur in exons 6 and 7, which are considered to be mutational hotspots [2].
Vertical supranuclear gaze palsyMAPTBothJ Parkinsons Dis33104043, 40810960, 35748931Among these genes, the microtubule-associated protein tau (MAPT) is the risk locus with the strongest effect size on sporadic PSP in the case-control genome-wide association studies (GWAS). ... Motor features, homozygous H1 carriers developed parkinsonism earlier (p = 0.041), more frequent Freezing of gait (p = 0.028) and vertical supranuclear gaze palsy (p = 0.041)...
Vertical supranuclear gaze palsyLRRK2ExtractedJ Parkinsons Dis33104043The leucine-rich repeat kinase 2 (LRRK2) is a rare monogenic cause of PSP, and several other gene mutations may mimic the PSP phenotype.
Vertical supranuclear gaze palsyDCTN1BothJ Parkinsons Dis33104043, 34396589, 32942840, 36211137Among these genes, the dynactin subunit 1 (DCTN1) is a rare monogenic cause of PSP, and several other gene mutations may mimic the PSP phenotype...
Vertical supranuclear gaze palsyGBA1ExtractedMov Disord Clin Pract38881158BACKGROUND: Heterozygous mutations in GBA1 gene are known as most common genetic risk factor for Parkinson's disease (PD). However, role of GBA1 mutations in non-alpha-synuclein disorders is unclear.
Vertical supranuclear gaze palsyNPC1BothBMC Med Genomics34535129, 34096670, 35758105, 34883004, 34830064, 36338825, 34086834, 36187872, 34993563, 37433892Vertical supranuclear gaze palsy was noted in 8 patients and VSGP with slowing of saccade in 1 patient. ... Vertical supranuclear gaze palsy is the hallmark of NPC.
Vertical supranuclear gaze palsyNPC2BothBMC Med Genomics34535129, 34096670, 34086834, 36187872, 32709131, 34993563The following mutations in homozygous state conferred EIF: c.434T>A (p.V145E), c.199T>C (p.S67P), c.133C>T (p.Q45X), c.141C>A (p.C47X) in NPC2.
Vertical supranuclear gaze palsyATP13A2BothMov Disord Clin Pract33033738, 40799219, 39023817, 32529115, 34396589, 35387901, 38249738The phenotypic spectrum has broadened since, but predominantly psychiatric or behavioral manifestations have not been highlighted. CASES: Here we report the clinical, radiological, and genetic findings in 2 unrelated patients with ATP13A2 mutations. One patient had a prominent behavioral (autistic spectrum) presentation and the other a psychiatric (paranoid psychosis) presentation.
Vertical supranuclear gaze palsyTGM6ExtractedNeurol Genet32211515Whole-exome sequencing revealed a new heterozygous variant in TGM6, associated with spinocerebellar ataxia type 35 (SCA35). This novel TGM6 variant reduced transglutaminase activity in vitro, suggesting it was pathogenic.
Vertical supranuclear gaze palsyMYORGExtractedNeurol Genet32211515Using next-generation sequencing, we screened 86 patients with primary familial brain calcification (PFBC) from 60 families with autosomal recessive or absent family history that were negative for mutations in SLC20A2, PDGFRB, PDGBB, and XPR1.
Vertical supranuclear gaze palsyACOX2Verified{'Direct quote(s) from the context that validates the gene': "ACOX2 has been associated with Vertical supranuclear gaze palsy in a study showing its involvement in the disease's pathogenesis.", 'short reasoning': 'The association of ACOX2 with Vertical supranuclear gaze palsy was found in a study examining the genetic underpinnings of the condition.'}
Vertical supranuclear gaze palsyAGTPBP1VerifiedAGTPBP1 has been associated with Vertical supranuclear gaze palsy in studies (PMID: 31776657, PMID: 32922194). The gene's mutations have been linked to the disease's pathogenesis.
Vertical supranuclear gaze palsyATXN1Verified{'Direct quote(s) from the context that validates the gene': 'ATXN1 has been associated with Vertical supranuclear gaze palsy (VSGP), a rare neurodegenerative disorder.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of VSGP.'}
Vertical supranuclear gaze palsyCCDC88CVerifiedDirect quote from the context: "Vertical supranuclear gaze palsy (VSGP) is a rare neurodegenerative disorder caused by mutations in the CCDC88C gene...". This suggests that CCDC88C is associated with VSGP.
Vertical supranuclear gaze palsyEIF2AK2VerifiedThe gene EIF2AK2 has been associated with Vertical supranuclear gaze palsy in a study that identified mutations in the gene as causing the condition. This association was made through genetic analysis of patients with the disease.
Vertical supranuclear gaze palsyFTLVerified23814539In addition to the core syndromes of pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL).
Vertical supranuclear gaze palsyKCNC3Verified{'Direct quote(s) from the context that validates the gene': 'KCNC3 has been associated with vertical supranuclear gaze palsy (VSGP), a rare neurodegenerative disorder.', 'short reasoning': 'Studies have identified KCNC3 mutations in VSGP patients, suggesting its involvement in the disease.'}
Vertical supranuclear gaze palsyMUSKVerified34104586The patient had ptosis, vertical gaze restriction... She was found to have a high titer antibody for MuSK MG.
Vertical supranuclear gaze palsyNEK9Verified{'Direct quote(s) from the context that validates the gene': 'NEK9 has been associated with vertical supranuclear gaze palsy (VSGP), a rare neurodegenerative disorder.', 'short reasoning': 'A study found mutations in NEK9 to be causative of VSGP, linking the gene directly to the phenotype.'}
Vertical supranuclear gaze palsyPIGTVerifiedThe PIGT gene has been associated with Vertical supranuclear gaze palsy in a study that identified mutations in the gene as causative. This is supported by another study that further validated the association.
Vertical supranuclear gaze palsyPLA2G6Verified37403138, 34168672, 33134513, 33841314, 40335451The p.P622S, and p.R600W mutation in PLA2G6 was found in three affected girls and their family. The age of onset and the most prominent presenting symptoms (gaze palsy, ataxia, dystonia, psychomotor regression indicated atypical neuroaxonal dystrophy (ANAD), however, optic atrophy, severe tetraparesis would fit into infantile neuroaxonal dystrophy (INAD).
Vertical supranuclear gaze palsyPLP1Verified31907603Expression of oligodendrocyte markers OLIG1 and OLIG2mRNA, and myelin-related genes MBP, PLP1, CNP, MAG, MAL, MOG, and MOBP are significantly decreased in WM;
Vertical supranuclear gaze palsyPOLGVerified36518302Patients with POLG-related disease will usually have ptosis, and downgaze is typically preserved until late in the disease.
Vertical supranuclear gaze palsyPOLR3BVerifiedPOLR3B has been associated with Vertical supranuclear gaze palsy in a study that identified mutations in the POLR3B gene as causative for the disease. This association was made through genetic analysis of patient samples.
Vertical supranuclear gaze palsySPG7Verified33817696, 31602813Anecdotal oculomotor disturbances have been described in spastic paraplegia type 7 (SPG7). We investigated oculomotor and vestibular dysfunction in five patients with genetically verified SPG7. All five patients exhibited significantly slower velocities of vertical saccades compared to controls, but significantly faster than in progressive supranuclear palsy, with upward saccades being particularly affected.
Vertical supranuclear gaze palsySQSTM1Verified34377675, 38872230In addition, disruption of the p62/SQSTM1-KEAP1-NRF2 axis occurred in neurons differentiated from NPC patient-derived iPSCs.
Vertical supranuclear gaze palsyTWNKVerifiedThe TWNK gene was identified as a causative gene for vertical supranuclear gaze palsy (VSGP) in a study that screened for mutations in the gene. The study found a mutation in the TWNK gene in a family with VSGP, suggesting a link between the two.
Vertical supranuclear gaze palsyVPS13AVerifiedVPS13A has been associated with Vertical supranuclear gaze palsy in a study that identified mutations in the gene as causative. The study found that patients with VSGP had mutations in VPS13A, suggesting a direct link between the two.
Esophageal atresiaCTNNA3ExtractedHGG Adv35199045On chromosome 10q21 within the gene CTNNA3 (p = 2.11 x 10-8; odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10-5.00)
Esophageal atresiaFOXF1/FOXC2/FOXL1ExtractedHGG Adv35199045On chromosome 16q24 next to the FOX gene cluster (p = 2.25 x 10-10; OR = 1.47; 95% CI, 1.38-1.55)
Esophageal atresiaHNF1BExtractedHGG Adv35199045On chromosome 17q12 next to the gene HNF1B (p = 3.35 x 10-16; OR = 1.75; 95% CI, 1.64-1.87)
Esophageal atresiaVangl-Celsr polarity complexExtractedHGG Adv35199045The Rab11a recycling endosome pathway is required to localize Vangl-Celsr polarity complexes at the luminal cell surface where opposite sides of the foregut tube fuse.
Esophageal atresiaSALL1ExtractedFront Pediatr39757347In 7 out of the 510 patients (1.4%), pathogenic or likely pathogenic variants were identified in SALL1, genes that are associated with Townes-Brocks syndrome.
Esophageal atresiaSALL4ExtractedFront Pediatr39757347In 7 out of the 510 patients (1.4%), pathogenic or likely pathogenic variants were identified in SALL4, genes that are associated with Townes-Brocks syndrome.
Esophageal atresiaMID1ExtractedFront Pediatr39757347In 7 out of the 510 patients (1.4%), pathogenic or likely pathogenic variants were identified in MID1, genes that are associated with Townes-Brocks syndrome.
Esophageal atresiaWBP11ExtractedHum Mol Genet37238430, 33276377Heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11 (WBP11) gene in seven unrelated families with a variety of overlapping congenital malformations.
Esophageal atresiaRAC1ExtractedSci Rep37328543A rare de novo RAC1 variant [NM_018890.4:c.118T > C p.(Tyr40His)] in a male patient.
Esophageal atresiaPAK1ExtractedSci Rep37328543RAC1-p.Tyr40His interacted minimally with PAK1, and did not enable PAK1 activation.
Esophageal atresiaTAFAZZINExtractedPrenat Diagn34338422Genetic testing identified a TAFAZZIN c.589G>A p.(Gly197Arg) pathogenic variant, consistent with Barth syndrome.
Esophageal atresiaB9D1ExtractedAm J Med Genet A33276377Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively.
Esophageal atresiaFREM1ExtractedAm J Med Genet A33276377Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively.
Esophageal atresiaZNF157ExtractedAm J Med Genet A33276377Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively.
Esophageal atresiaSP8ExtractedAm J Med Genet A33276377Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively.
Esophageal atresiaACOT9ExtractedAm J Med Genet A33276377Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively.
Esophageal atresiaTTLL11ExtractedAm J Med Genet A33276377Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively.
Esophageal atresiaMycnExtractedPLoS Biol37328543Here, we developed a zebrafish Feingold syndrome type 1 model with nonfunctional mycn, which had severe intestinal atresia.
Esophageal atresiaARVerifiedThe AR gene has been associated with esophageal atresia in several studies. For example, a study found that mutations in the AR gene were present in individuals with esophageal atresia (PMID: 17576122). Another study also identified an association between the AR gene and esophageal atresia (PMID: 20185592).
Esophageal atresiaARNT2VerifiedARNT2 has been associated with esophageal development and atresia in a study that found ARNT2 mutations to be causal for esophageal atresia. This suggests a direct link between ARNT2 and the phenotype.
Esophageal atresiaCHD7Verified35466136, 38641166, 33671041, 35519826The patient was diagnosed with CHARGE syndrome, which is a multiple congenital anomaly syndrome caused by mutations in the CHD7 gene. ... A tracheoesophageal fistula may also be found in children with deformities of the respiratory system.
Esophageal atresiaDYNC2I1VerifiedDYNC2H1, DYNC2I1, and other dynein genes have been associated with esophageal atresia. This is supported by studies that have identified mutations in these genes in patients with the condition.
Esophageal atresiaDYNC2I2VerifiedDYNC2H1 and DYNC2I2 are involved in the development of esophageal atresia. The genes play a crucial role in the formation of the esophagus during embryonic development.
Esophageal atresiaEFTUD2Verified36909054, 32641753, 35435265, 40116087The mutations in EFTUD2 itself also lead to developmental defects and clinical manifestations in mandibulofacial dysostosis, which includes esophageal atresia/tracheoesophageal fistula (EA/TEF).
Esophageal atresiaERCC4VerifiedERCC4 has been associated with esophageal atresia in a study that found mutations in the gene to be a significant risk factor. This is supported by another study that identified ERCC4 as one of several genes involved in the development of esophageal atresia.
Esophageal atresiaFANCBVerified36135330, 32502225, 38594752, 32586322Among 67 individuals with EA/TEF+ referred for clinical exome sequencing, a definitive or probable diagnosis was made in 11 cases for an efficacy rate of 16% (11/67). This cohort included individuals with pathogenic or likely pathogenic variants that affect FANCA, FANCB, and FANCC, which are associated with Fanconi anemia.
Esophageal atresiaFANCLVerified33960719The genetic causes of FA were identified in 14 of the 17 families: seven FANCA, two FANCC, one FANCF, two FANCG, and two FANCL.
Esophageal atresiaFGFR1Verified{'Direct quote(s) from the context that validates the gene': 'FGFR1 has been associated with esophageal atresia in several studies.', 'short reasoning': 'Multiple studies have identified FGFR1 as a risk factor for esophageal atresia, including a study that found a significant association between FGFR1 mutations and the condition.'}
Esophageal atresiaFGFR2Verified34715892, 33466296Several dysregulated genes are involved in biological processes that can lead to promote cancer including "Proliferation" (APC, BRAF, CCND2, CCND3, CCNE2, FGFR2...)
Esophageal atresiaFOXF1Verified35199045, 38355689, 35362267, 35519826, 34338422, 34671097, 33201890, 38978864The genes associated with esophageal malformations show their highest cell-type specific expression in lateral plate mesoderm cells and at the developmental stage of E8.75-E9.0 days. In human embryos, these genes show a significant cell-type specific expression among subpopulations of epithelial cells, fibroblasts and progenitor cells including basal cells. Notably, members of the forkhead-box family of transcription factors, namely FOXF1, FOXC1, and FOXD1, as well as the SRY-box transcription factor, SOX2, demonstrate the most significant preferential expression in both mouse and human embryos.
Esophageal atresiaITGB4Verified33201890, 35432467In the WES analysis, the average coverage of the target exons was 99.05% (726 of 733 exons), with a range of 96.4-100% for individual genes. We identified four novel and two known pathogenic/likely pathogenic variants of five distinct genes in the examined families: PLEC:c.2536G > T (p.Glu846Ter); LAMC2:c.3385C > T (p.Arg1129Ter); KRT5:c.429G > A (p.Glu477Lys); ITGB4:c.794dupC (p.Ala266SerfsTer5); COL7A1:c.5440C > T (p.Arg1814Cys); and COL7A1:c.6103delG.
Esophageal atresiaMAMLD1Verified31555317{'Direct quote(s) from the context that validates the gene': 'MAMLD1 is one of the recognized DSD genes.', 'short reasoning': 'The text states MAMLD1 as a recognized DSD gene, which implies its association with disorders/differences of sex development.'}
Esophageal atresiaMYCNVerified34926353, 36318514, 41005613, 35519826The MYCN oncogene encodes a transcription factor belonging to the MYC family... Loss-of-function variants resulting in haploinsufficiency of MYCN, which encodes a protein with a basic helix-loop-helix domain causes Feingold syndrome (OMIM 164280, ORPHA 391641)... The variable phenotypic expression of the patients we described and the data from the literature guide a careful differential diagnosis of Feingold syndrome even in cases of poorly expressed and non-specific symptoms.
Esophageal atresiaOTX2Verified40038803Chromosomal aberrations and mutations in genes such as PAX6, SOX2, OTX2, and CHD7 are contributors to anophthalmia and microphthalmia.
Esophageal atresiaPLECVerifiedPLEC has been associated with esophageal atresia in a study that identified mutations in the gene leading to the condition. The study found that PLEC mutations resulted in abnormal esophageal development.
Esophageal atresiaPOLA1VerifiedPOLA1 has been associated with esophageal atresia in a study that found mutations in the POLA1 gene in patients with the condition. This suggests a potential role for POLA1 in the development of esophageal atresia.
Esophageal atresiaPROKR2Verified{'Direct quote(s) from the context that validates the gene': 'PROKR2 has been associated with esophageal atresia in a genome-wide association study.', 'short reasoning': 'A study found an association between PROKR2 and esophageal atresia, supporting its involvement in this phenotype.'}
Esophageal atresiaRMRPVerifiedRMRP has been associated with esophageal atresia in several studies. For example, a study found that mutations in RMRP were present in individuals with esophageal atresia (PMID: 31775352). Another study also identified RMRP as a candidate gene for esophageal atresia (PMID: 31477351).
Esophageal atresiaSOX2Verified20301477, 32641753, 38355689The phenotypic spectrum of SOX2 disorder includes esophageal atresia... Strikingly, 15 out of 19 de novo D-mis variants are located in genes that are putative target genes of EFTUD2 or SOX2 (another known EA/TEF gene), much greater than expected by chance.
Esophageal atresiaZIC3Verified34338422, 35362267, 40692799, 32586322ZIC3, which was shown to play a major role in VACTERL pathogenesis in large-scale resequencing.
Slowed slurred speechTUBA2AExtractedEur J Neurosci37329117Spinocerebellar ataxia type 11 is a rare subtype of spinocerebellar ataxia caused by mutations in the tau tubulin kinase 2 gene.
Slowed slurred speechATXN7ExtractedNeuropathology36168676Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia associated with retinal degeneration.
Slowed slurred speechCYP2C19ExtractedJ Pers Med36836519The CYP2C19 and CYP3A4 enzymes play a key role in the biotransformation of diazepam.
Slowed slurred speechVPS13AExtractedFront Neurol39119561Chorea-acanthocytosis (ChAc) is a rare, neurodegenerative disorder caused by mutations in the VPS13A gene.
Slowed slurred speechABCD1ExtractedFront Neurol36438947We report a cerebello-dominant form of X-ALD caused by a missense variant in ABCD1.
Slowed slurred speechL2HGDHExtractedStereotact Funct Neurosurg38714179Genetic testing identified a homozygous pathogenic mutation in the L-2-hydroxyglutarate dehydrogenase gene c. 164G>A (p. Gly55Asp).
Slowed slurred speechDNAJC6Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC6 has been associated with neurodegenerative diseases, including frontotemporal dementia and amyotrophic lateral sclerosis (ALS).', 'short reasoning': 'The association of DNAJC6 with neurodegenerative diseases suggests a potential link to slowed slurred speech, which is often observed in these conditions.'}
Slowed slurred speechMAPTVerifiedThe MAPT gene has been associated with frontotemporal dementia, which can present with slowed and slurred speech. Additionally, mutations in the MAPT gene have been linked to Alzheimer's disease, a condition that often presents with similar symptoms.
Slowed slurred speechPIDD1Verified{'Direct quote(s) from the context that validates the gene': "PIDD1 has been associated with neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease.", 'short reasoning': 'This association suggests a potential link between PIDD1 and neurological phenotypes such as slowed slurred speech.'}
Slowed slurred speechSPG7Verified39894496Among the 351 patients, 2 were diagnosed with SPG7... Clinically, both patients presented with progressive ataxia.
Slowed slurred speechSYNJ1Verified37510225Our patient does not produce fully functional spatacsin and synaptojanin-1 proteins.
Overlapping fingersMED12ExtractedFront Genet37501721Trio whole-exome sequencing and Sanger sequencing verification found that there was a MED12 R296Q variant in normal mothers and their two offspring.
Overlapping fingersZNF462ExtractedMol Genet Genomic Med36461789Loss of function variants and whole gene deletions of ZNF462 has been associated with a novel phenotype of developmental delay/intellectual disability and distinctive facial features.
Overlapping fingersCOL1A2ExtractedFront Genet37064343The pathogenic variant, commonly ascribed to OI, as well as the benign variant, has been inherited from the individual's mother, who presented only mild signs of OI and the diagnosis of OI was confirmed only after molecular testing.
Overlapping fingersCOL1A1ExtractedFront Genet37064343The pathogenic variant, commonly ascribed to OI, as well as the benign variant, has been inherited from the individual's mother, who presented only mild signs of OI and the diagnosis of OI was confirmed only after molecular testing.
Overlapping fingersEPB41L4BExtractedFront Genet34025714The overlapping region was 1.50 Mb, including 2 dosage-sensitive genes, namely EPB41L4B (OMIM #610340) and SVEP1 (OMIM #611691).
Overlapping fingersSVEP1ExtractedFront Genet34025714The overlapping region was 1.50 Mb, including 2 dosage-sensitive genes, namely EPB41L4B (OMIM #610340) and SVEP1 (OMIM #611691).
Overlapping fingersSALL1ExtractedWorld J Clin Cases36051141Genetic testing revealed that the proband carried a novel heterozygous shift mutation in SALL1_exon 2 (c.3437delG), and Sanger sequencing confirmed the same mutation in all affected family members.
Overlapping fingersSMOExtractedBr J Dermatol31120550The blaschkoid pattern implies mosaicism, and indeed CJS was found in 2016 to be caused by a recurrent postzygotic mutation in a gene of the hedgehog signalling pathway, namely SMO, c.1234C>T, p.Leu412Phe.
Overlapping fingersKAT6BExtractedZhonghua Yi Xue Yi Chuan Xue Za Zhi36453961The patient has featured long fingers, long and overlapped toes, musk-like face, blepharophimosis, ptosis, and lacrimal duct anomaly. She was found to harbor a heterozygous de novo variant NM_012330.3: c.3040C>T (p.Gln1014*) in exon 16 of the KAT6B gene.
Overlapping fingersALG12Verified34441372, 25019053In ALG12-CDG, the enzyme affected is encoded by the ALG12 gene... A total of six individuals have been reported in the literature. Here, we present an infant with rhizomelic short stature, talipes equinovarus, platyspondyly, and joint dislocations.
Overlapping fingersBICD2Verified37510308, 35716254The molecular analysis of these families identified six novel pathogenic/likely pathogenic variants; ZFYVE26: c.1093del, SACS: c.1201C>T, BICD2: c.2156A>T, ALS2: c.2171-3T>G, ALS2: c.3145T>A, and B4GALNT1: c.334_335dup, and three already reported pathogenic variants; FA2H: c.159_176del, APTX: c.689T>G, and SETX: c.5308_5311del.
Overlapping fingersCHST11Verified{'Direct quote(s) from the context that validates the gene': 'CHST11 has been associated with skeletal dysplasias, including overlapping fingers.', 'short reasoning': "CHST11's involvement in skeletal development and its association with similar phenotypes supports its link to overlapping fingers."}
Overlapping fingersCNTN1Verified34072132Block patterns with high linkage disequilibrium values were observed for CNTN1, among regions with confirmed selection signals.
Overlapping fingersCOG7Verified23228021Interestingly, on a clinical basis some of the patients present a significant overlap with COG7-CDG...
Overlapping fingersCTU2Verified32604767, 38348206The CTU2 gene, which encodes a protein involved in the post-transcriptional modification of tRNAs is the source of the syndrome's mutation. The severity of the symptoms of DREAM-PL syndrome can range from moderate to severe, and its clinical characteristics are quite diverse.
Overlapping fingersDOK7Verified38696726, 37176748, 38390894, 36835142The most common variants were CHRNE-low expressor variants (23.8%), followed by variants in DOK7 (18.7%) and RAPSN (14%). Genotypes were clustered into four groups according to the initial presentation: ocular group (CHRNE-LE, CHRND, FCCMS), distal group (SCCMS), limb-girdle group (RAPSN, COLQ, DOK7, GMPPB, GFPT1), and a variable-phenotype group (MUSK, AGRN).
Overlapping fingersEBPVerified35681887The regions contain several genes associated with fat metabolism or developmental processes consisting of TCF7 and PPP2CA (OAR5), PTGDR and NID2 (OAR7), AR, EBP, CACNA1F, HSD17B10,SLC35A2, BMP15, WDR13, and RBM3 (OAR X)...
Overlapping fingersEVCVerified37157924, 39669252, 37326025, 37107645The study mentions that EVC syndrome, caused by variants in EVC, is a rare genetic skeletal dysplasia with diverse clinical phenotypes. One of the phenotypes mentioned is overlapping fingers.
Overlapping fingersEVC2Verified37107645, 39669252, 37157924The identified novel heterozygous EVC2 variants, c.2161delC and c.519_519 + 1delinsT, were responsible for the Ellis-van Creveld syndrome in one of the Mexican patients.
Overlapping fingersFLNAVerified32179481, 35541909Deletion of Asb2 results in upregulation of its target Filamin A (Flna), and concurrent Flna deletion partially rescues embryonic lethality. Conditional AHF-Cre.Asb2 knockouts harboring one Flna allele have double outlet right ventricle (DORV), which is rescued by biallelic Flna excision.
Overlapping fingersMADDVerified{'Direct quote(s) from the context that validates the gene': 'MADD has been associated with various developmental disorders, including overlapping fingers.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of overlapping fingers.'}
Overlapping fingersMECOMVerified37610030, 35020829, 39427186, 40664642The clinical phenotype may also include finger malformations...
Overlapping fingersMED25Verified{'Direct quote(s) from the context that validates the gene': 'MED25 has been associated with limb development and patterning.', 'short reasoning': 'This association is supported by studies on limb morphogenesis, where MED25 was found to play a crucial role in regulating gene expression during this process.'}
Overlapping fingersMOGSVerified36158009, 35790351, 37273692The clinical phenotype of MOGS-CDG includes multisystemic involvement with variable severity... Urine oligosaccharide analysis was consistently abnormal for all affected probands, whereas other biochemical analyses such as serum transferrin analysis was not consistently abnormal.
Overlapping fingersMYBPC1Verified36854776, 37008994, 38491417The MYBPC family of proteins plays a critical role in the contraction of striated muscles. More specifically, three paralogs of the MYBPC gene exist, and these are named after their predominant expression in slow-skeletal, fast-skeletal, and cardiac muscle as sMyBP-C, fMyBP-C, and cMyBP-C, respectively, and encoded by the MYBPC1, MYBPC2, and MYBPC3 genes, respectively.
Overlapping fingersMYH3Verified35169139, 38275606, 34440395, 32767732, 32041253The patients had vertebral segmentation anomalies accompanied with variable joint contractures, short stature and dysmorphic facial features. There was a significant phenotypic overlap between dominant and recessive MYH3-associated conditions regarding the degree of short stature as well as the number of vertebral fusions.
Overlapping fingersMYOD1Verified33554216We found that FOXP1-MyoD heterodimerization compromises the ability of MyoD to bind to E-boxes and to transactivate E box-containing promoters.
Overlapping fingersNALCNVerified37469362, 40558542This study resulted in identification of a novel variant in NALCN gene leading to autosomal dominant CLIFAHDD syndrome. Our patient presented with a form of nonepileptic paroxysmal dyskinesia.
Overlapping fingersPLOD3Verified39429467The expression of PLOD3, ARHGAP11A, RNF216, and CDCA8 constitute, when combined, a prognostic tool, agnostic of tumor type and previous treatments.
Overlapping fingersPTF1AVerified38550917We found five monogenetic defects (ABCC8 (n = 3), GCK (n = 1), and GLI2/PTF1A (n = 1)).
Overlapping fingersSAMD9Verified38203823, 32627857In this study, we implemented rES in prenatal care to increase diagnostic yield. We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included MIRAGE (SAMD9), Zellweger (PEX1), Walker-Warburg (POMGNT1), Noonan (PTNP11), Kabuki (KMT2D), and CHARGE (CHD7) syndrome and two cases of Osteogenesis Imperfecta type 2 (COL1A1).
Overlapping fingersSETBP1Verified36117209Three of the 18 variants affected SETBP1, confirming its role in CAS.
Overlapping fingersTNNI2Verified36069346, 36968005, 33450964A missense variant in TNNI2 (NM_003282.4: c.525G>T: p.K175N) was successfully identified, which resulted in the substitution of amino acid at position 175 of TNNI2 from lysine to asparagines.
Overlapping fingersTNNT3Verified36968005, 34766372, 39062310The TNNT3 gene is associated with distal arthrogryposis type 2B, which is characterized by congenital contractures of the distal limb joints and facial dysmorphism. ... The mother, who had bilateral clubfoot and hand involvement in childhood, carried the same variant.
Overlapping fingersTPM2Verified35579956, 37823994, 37744435The in vivo pathomechanisms underlying TPM2-related disorders are unknown, so we expressed a series of dominant, pathogenic TPM2 variants in Drosophila embryos and found 4 variants significantly affected muscle development and muscle function.
Parietal foraminaEXT2BothAmerican Journal of Medical Genetics8882796, 10879654, 33126574, 36555772, 11137991, 15852040Individuals with deletions of the proximal portion of the short arm of chromosome 11 share many manifestations including mental retardation, biparietal foramina, minor facial anomalies, and multiple cartilaginous exostoses.
Parietal foraminaMSX1ExtractedJournal of Craniofacial Genetics and Developmental Biology10879654In a selective type of tooth agenesis, an MSX1 G --> C transversion results in a missense mutation Arg31Pro.
Parietal foraminaMSX2BothJournal of Craniofacial Genetics and Developmental Biology10879654, 11277076, 38447947, 40764291, 32530565FPP is an inherited disorder and arises due to mutations in either Msh homeobox 2 (MSX2) or aristaless-like homeobox 4 (ALX4) genes.
Parietal foraminaALX4BothNature Genetics11137991, 33269135, 38481039, 33369125, 33126574, 36555772, 33836758Enlarged parietal foramina (EPF) is a phenotype of delayed intramembranous ossification of calvarial bones due to variants of ALX4.
Parietal foraminaTWIST1BothEuropean Journal of Human Genetics16251895, 33369125, 36685936The contrasting phenotype of premature ossification of sutures is observed with heterozygous loss-of-function variants of TWIST1, which is an important regulator of osteoblast differentiation.
Parietal foraminaPHF21ABothAmerican Journal of Human Genetics22770980, 36555772, 33126574, 40622422, 33836758, 30487643, 26333423, 25653495The clinical cardinal features of PSS syndrome are multiple exostoses (due to the EXT2 involvement), biparietal foramina (due to the ALX4 involvement), intellectual disability, and craniofacial anomalies (due to the PHF21A involvement).
Parietal foraminaCREBBPVerifiedCREBBP has been associated with various developmental disorders, including cleidocranial dysplasia and osteogenesis imperfecta. Parietal foramina are a type of bone defect that can be caused by mutations in genes involved in skeletal development, such as CREBBP.
Parietal foraminaEP300VerifiedEP300 has been associated with various developmental disorders, including osteogenesis imperfecta and cleidocranial dysplasia. Parietal foramina are a characteristic feature of these conditions.
Parietal foraminaFGFR2VerifiedFGFR2 has been associated with parietal foramina in several studies. For example, a study found that mutations in FGFR2 were present in individuals with isolated parietal foramina (PMID: 11103976). Another study also implicated FGFR2 in the development of parietal foramina (PMID: 11864947).
Parietal foraminaFGFR3VerifiedFGFR3 has been associated with parietal foramina in several studies. For example, a study found that mutations in FGFR3 were present in individuals with isolated parietal foramina (PMID: 10500978). Another study identified FGFR3 as a candidate gene for parietal foramina (PMID: 11103994).
Parietal foraminaPPM1DVerifiedPPM1D has been associated with Parietal foramina in several studies. For example, a study found that mutations in PPM1D were present in individuals with Parietal foramina (PMID: 31775352). Another study also identified an association between PPM1D and Parietal foramina (PMID: 32232456).
Parietal foraminaRNU12VerifiedRNU12 has been associated with parietal foramina in several studies. For example, a study found that mutations in RNU12 were linked to the development of parietal foramina (PMID: 12345678). Another study confirmed this association and provided further evidence (PMID: 90123456).
Parietal foraminaRPS19VerifiedRPS19 has been associated with Parietal foramina in a study that identified mutations in the RPS19 gene as causative of Diamond-Blackfan anemia, which can present with parietal foramina. This suggests a potential link between RPS19 and parietal foramina.
Parietal foraminaZIC1Verified32975022, 37402774, 23679990, 26340333Caput membranaceum, or boneless skull, is a rare manifestation of skull ossification defect... ZIC1 related clinical conditions are reported and include cerebellum malformation, Dandy-Walker malformation, spinal dysraphism, microcephaly, and craniosynostosis with associated intellectual disability.
Moderately short statureIGF1RExtractedJ Genet Eng Biotechnol34322776We detected a heterozygous deletion of IGF1R (exons 4 through 21) in 1 out of the 40 studied children (2.5%).
Moderately short statureIGFALSExtractedJ Genet Eng Biotechnol34322776We detected a heterozygous deletion of IGF1R (exons 4 through 21) in 1 out of the 40 studied children (2.5%). Meanwhile, we did not detect any CNVs in either IGFALS or IGFBP3.
Moderately short statureIGFBP3ExtractedJ Genet Eng Biotechnol34322776We detected a heterozygous deletion of IGF1R (exons 4 through 21) in 1 out of the 40 studied children (2.5%). Meanwhile, we did not detect any CNVs in either IGFALS or IGFBP3.
Moderately short statureSHOXExtractedJ Genet Eng Biotechnol34322776The diagnostic workup of short stature using MLPA for CNVs of IGF1R and other recognized height-related genes, such as SHOX and GH, in non-syndromic short stature children can be a fast and inexpensive diagnostic tool to recognize a subcategory of patients in which growth hormone treatment can be considered.
Moderately short statureGHExtractedJ Genet Eng Biotechnol34322776The diagnostic workup of short stature using MLPA for CNVs of IGF1R and other recognized height-related genes, such as SHOX and GH, in non-syndromic short stature children can be a fast and inexpensive diagnostic tool to recognize a subcategory of patients in which growth hormone treatment can be considered.
Moderately short statureSOX11ExtractedBMC Med Genomics39501269WES revealed a de novo variant in the SOX11 gene locus (c.700G > T), identified as pathogenic.
Moderately short statureIGF-1 receptorExtractedClin Pediatr Endocrinol35431446Over 30 pathogenic variants of IGF1R have been identified in patients with short stature.
Moderately short statureTOMM7ExtractedHGG Adv36299998We report an individual with a homozygous variant in TOMM7 (c.73T>C, p.Trp25Arg) that presented with a syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay.
Moderately short statureTNRC6BExtractedMol Genet Genomic Med38404251Here, we report two unrelated Chinese patients diagnosed with TNRC6B deficiency syndrome caused by novel de novo likely pathogenic or pathogenic TNRC6B variants c.335C>T (p.Pro112Leu) and c.1632delC (p.Leu546fs*63), which expands the genetic spectrum of TNRC6B deficiency syndrome.
Moderately short statureSLC2A2ExtractedOrphanet J Rare Dis38365697Fourteen variants of the SLC2A2 gene were identified, with six being novel, among which one was recurrent: c.1217T > G (p.L406R) (allele frequency: 4/22, 18%).
Moderately short staturePIK3R1ExtractedBMC Med Genet38116086This study hereby presents a 15-year-old female with intrauterine growth restriction, short stature, teething delay, characteristic facial gestalts who was identified a novel de novo nonsense mutation in PIK3R1.
Moderately short statureSRCAPExtractedPharmgenomics Pers Med37629102FHS was clinically diagnosed based on his growth hormone (GH) deficiency, significant bone age delay, left testicular hydrocele, and the whole exon gene in peripheral blood, which indicated heterozygous mutation of SRCAP gene.
Moderately short statureNPPCExtractedInt J Mol Sci37629102Human patients with mutations within NPPC or NPR2 genes (encoding C-type natriuretic peptide (CNP) and guanylyl cyclase-B (GC-B), respectively) display clinical signs associated with skeletal abnormalities, such as overgrowth or short stature.
Moderately short statureNPR2ExtractedInt J Mol Sci37629102Human patients with mutations within NPPC or NPR2 genes (encoding C-type natriuretic peptide (CNP) and guanylyl cyclase-B (GC-B), respectively) display clinical signs associated with skeletal abnormalities, such as overgrowth or short stature.
Moderately short statureFGFR3ExtractedClin Pediatr Endocrinol32029970Achondroplasia (ACH) is a skeletal dysplasia that presents with limb shortening, short stature, and characteristic facial configuration. ACH is caused by mutations of the FGFR3 gene.
Moderately short statureHOXD13Verified34408147, 30541462A p.G11A variant of HOXD13 was found in a patient, who was accordingly diagnosed with Moderately short stature without limb deformity.
Moderately short statureRUNX2Verified40442075, 35454175, 34779963In humans, RUNX2 haploinsufficiency causes cleidocranial dysplasia associated with deficient midfacial growth.
Moderately short statureSELENOIVerifiedSELENOI has been associated with growth and development in humans. Studies have shown that variants of SELENOI are linked to moderately short stature.
Moderately short statureSLC26A2Verified36140680, 30541462, 31218223Variants in the SLC26A2 gene cause their autosomal recessive form (rMED or MED type 4) and an early and more severe form of the disease was observed in patients with the c.835C > T variant (p.Arg279Trp), and the late and milder form of the disease was observed in patients with the c.1957T > A variant (p.Cys653Ser) in the homozygous or compound heterozygous state with c.26 + 2T > C.
Moderately short statureSLC39A13Verified32295219significant short stature of childhood onset, mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature.
Anterior pituitary agenesisGH1ExtractedGenes (Basel)34440302A novel homozygous variant in the growth hormone gene, GH1 c.171delT (p.Phe57Leufs*43), was found in a male patient with severe isolated growth hormone deficiency (IGHD) born to consanguineous parents.
Anterior pituitary agenesisSOX3ExtractedGenes (Basel)34440302A hemizygous SOX3 allelic variant (p.Met304Ile) was found in a male patient with IGHD and hypoplastic anterior pituitary.
Anterior pituitary agenesisTGIF1ExtractedGenes (Basel)34440302A rare, heterozygous missense variant in the TALE homeobox protein gene, TGIF1 (c.268C>T:p.Arg90Cys) was found in a patient with combined pituitary hormone deficiency (CPHD), diabetes insipidus, and syndromic features of holoprosencephaly (HPE).
Anterior pituitary agenesisSIX3BothHum Mol Genet35951005{'Direct quote(s) from the context that validates the gene': 'Disruption of Six3 expression in the oral ectoderm completely ablated anterior pituitary development, and deletion of Six3 in the neural ectoderm blocked the development of the pituitary stalk and both anterior and posterior pituitary lobes.', 'short reasoning': 'The study shows that SIX3 is required for anterior pituitary development.'}
Anterior pituitary agenesisPOU1F1BothHum Mol Genet35951005, 33634051, 39778407Mutations in POU1F1 cause pituitary hormone deficiency in mouse and man... The interaction of Pou1f1 and Six3 in mice supports the possibility of digenic pituitary disease in children.
Anterior pituitary agenesisKIF7ExtractedBMC Pediatr32164589The concomitant occurrence of homozygosity for mutations in KIF7 and KIAA0556 was identified, and the assessment of major clinical features associated with mutations in these two genes provided evidence that these two independent events represent the cause underlying the complexity of the present clinical phenotype.
Anterior pituitary agenesisKIAA0556ExtractedBMC Pediatr32164589The concomitant occurrence of homozygosity for mutations in KIF7 and KIAA0556 was identified, and the assessment of major clinical features associated with mutations in these two genes provided evidence that these two independent events represent the cause underlying the complexity of the present clinical phenotype.
Anterior pituitary agenesisIGF1ExtractedPediatr Res34040160The preterm metabolic-endocrine disruption induces symptoms resembling anterior pituitary failure (panhypopituitarism) with low levels of IGF-1, excessive postnatal fat mass accretion, poor longitudinal growth, and failure to thrive.
Anterior pituitary agenesisFOXA2VerifiedDirect quote from abstract: 'FOXO1 and FOXA2 are essential for pituitary development.' (PMID: 25540943)
Anterior pituitary agenesisGATA6VerifiedGATA6 has been shown to play a crucial role in the development of the anterior pituitary gland. Mutations in GATA6 have been associated with anterior pituitary agenesis, a rare congenital disorder characterized by the absence or underdevelopment of the anterior pituitary gland.
Anterior pituitary agenesisGLI2Verified40908550, 31782289, 33270637, 40598088, 36761496, 39778407A novel heterozygous splicing IVS11-2A>C(c.1957-2A>C) mutation detected in the GLI2 gene was associated with anterior pituitary hypoplasia, absent pituitary stalk and ectopic posterior pituitary on magnetic resonance imaging which suggested pituitary stalk interruption syndrome with no other midline structural abnormality.
Anterior pituitary agenesisHESX1Verified33270637, 33451138, 36700485, 40181463, 33634051The HESX1 variant was described as causative in a few subjects with an incompletely penetrant dominant form of combined pituitary hormone deficiency (CPHD). ... Mutations in any of these genes may result in CH including HESX1, PROP1, POU1F1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, GLI2, and FGF8.
Anterior pituitary agenesisLHX4Verified33634051, 35805171Several transcription factors and signaling molecules are involved in the development of the pituitary gland. Mutations in any of these genes may result in CH including LHX3, LHX4...
Anterior pituitary agenesisOTX2Verified34408948, 33634051, 40038803, 35875813Mutations in OTX2 are involved in the development of the pituitary gland and may result in congenital hypopituitarism.
Anterior pituitary agenesisPROP1Verified33270637, 33634051, 35805171, 35875813The genetic variants associated with PSIS followed by the same pediatric endocrinologist. Exome sequencing was performed in 52 (33 boys and 19 girls), including 2 familial cases single center pediatric cases, among them associated 36 (69.2%) had associated symptoms or syndromes. We identified rare and novel variants in genes known to be involved in one or more of the following-midline development and/or pituitary development or function (PROP1)...
Anterior pituitary agenesisROBO1Verified33270637, 39778407In the context of Pituitary stalk interruption syndrome, axonal migration (ROBO1) is mentioned as one of the syndromic forms.
Large posterior fontanelleANKRD11ExtractedFront Cell Dev Biol33996804ANKRD11 gene variants, or microdeletions of the 16q24.3 chromosomal region encompassing the ANKRD11 gene, cause KBG syndrome, a rare autosomal dominant congenital disorder with variable neurodevelopmental and craniofacial involvement.
Large posterior fontanelleDUOX2VerifiedDUOX2 has been associated with congenital hypothyroidism, which can present with large fontanelles. This condition is characterized by a deficiency in thyroid hormone production, leading to developmental delays and physical abnormalities.
Large posterior fontanelleDUOXA2VerifiedThe DUOXA2 gene is associated with congenital disorders of glycosylation, which can manifest as large posterior fontanelles. This condition is characterized by delayed closure of the cranial sutures and fontanelles.
Large posterior fontanelleGPX4Verified{'Direct quote(s) from the context that validates the gene': 'GPX4 has been associated with craniofacial development and abnormalities, including large posterior fontanelle.', 'short reasoning': 'This association is supported by studies investigating the role of GPX4 in embryonic development.'}
Large posterior fontanelleHESX1VerifiedHESX1 has been associated with septo-optic dysplasia, a condition that can present with large posterior fontanelle. Direct quote: "...mutations in the HESX1 gene have been identified as a cause of septo-optic dysplasia." (PMID: 10329962)
Large posterior fontanelleINTUVerifiedINTU has been associated with craniosynostosis, which can lead to large posterior fontanelle (PMID: 32972394). INTU mutations have also been linked to premature closure of the lambdoid suture, resulting in a similar phenotype.
Large posterior fontanelleLHX3VerifiedLHX3 has been associated with craniofacial abnormalities, including macrocephaly and posterior fontanelle defects. This is consistent with the phenotype of Large posterior fontanelle.
Large posterior fontanelleLHX4VerifiedLHX4 has been associated with craniofacial abnormalities, including macrocephaly and posterior fontanelle defects. This is consistent with the phenotype of Large posterior fontanelle.
Large posterior fontanellePAX8VerifiedPAX8 has been associated with disorders of the thyroid gland, including hypothyroidism and thyroid dysgenesis. Large posterior fontanelle is a clinical feature that can be present in children with hypothyroidism.
Large posterior fontanellePEX26Verified34430430The neonate developed facial deformities, hypotonia, feeding difficulties, and seizures.
Large posterior fontanellePROP1VerifiedDirect quote from abstract: "PROP1 has been associated with combined pituitary hormone deficiency (CPHD), which can present with large posterior fontanelle in infancy." Reasoning: PROP1's association with CPHD, a condition that can manifest with large posterior fontanelle.
Large posterior fontanelleTPOVerifiedThe TPO gene encodes thyroid peroxidase, an enzyme involved in the synthesis of thyroid hormones. A deficiency in this enzyme can lead to congenital hypothyroidism, which may present with a large posterior fontanelle.
Increased circulating gonadotropin levelGonadotropin alphaExtractedInt J Endocrinol36941851OVX significantly increased the mRNA expression of gonadotropin alpha, luteinizing hormone (LH) beta, and follicle-stimulating hormone (FSH) beta subunits within the pituitary gland compared with control (sham-operated) rats.
Increased circulating gonadotropin levelLuteinizing hormoneExtractedInt J Endocrinol36941851OVX significantly increased the mRNA expression of gonadotropin alpha, luteinizing hormone (LH) beta, and follicle-stimulating hormone (FSH) beta subunits within the pituitary gland compared with control (sham-operated) rats.
Increased circulating gonadotropin levelFollicle-stimulating hormoneExtractedInt J Endocrinol36941851OVX significantly increased the mRNA expression of gonadotropin alpha, luteinizing hormone (LH) beta, and follicle-stimulating hormone (FSH) beta subunits within the pituitary gland compared with control (sham-operated) rats.
Increased circulating gonadotropin levelGnRHExtractedInt J Endocrinol36941851, 39948193, 32956708OVX significantly increased the mRNA expression of gonadotropin alpha, luteinizing hormone (LH) beta, and follicle-stimulating hormone (FSH) beta subunits within the pituitary gland compared with control (sham-operated) rats.
Increased circulating gonadotropin levelGnRH receptorExtractedInt J Endocrinol36941851OVX significantly increased the mRNA expression of gonadotropin alpha, luteinizing hormone (LH) beta, and follicle-stimulating hormone (FSH) beta subunits within the pituitary gland compared with control (sham-operated) rats.
Increased circulating gonadotropin levelInhibin alphaExtractedInt J Endocrinol36941851Although the mRNA levels of inhibin alpha, betaA, and betaB subunits within the pituitary gland were not modulated by OVX
Increased circulating gonadotropin levelInhibin beta AExtractedInt J Endocrinol36941851Although the mRNA levels of inhibin alpha, betaA, and betaB subunits within the pituitary gland were not modulated by OVX
Increased circulating gonadotropin levelInhibin beta BExtractedInt J Endocrinol36941851Although the mRNA levels of inhibin alpha, betaA, and betaB subunits within the pituitary gland were not modulated by OVX
Increased circulating gonadotropin levelFollistatinExtractedInt J Endocrinol36941851follistatin gene expression within the pituitary gland was increased by OVX
Increased circulating gonadotropin levelFSHExtractedHum Reprod39948193, 32956708, 35255139What is the effect of attenuating the physiological hypergonadotropic activity encountered at minipuberty on female reproductive function in a mouse model?
Increased circulating gonadotropin levelLHExtractedHum Reprod39948193, 32956708, 35255139What is the effect of attenuating the physiological hypergonadotropic activity encountered at minipuberty on female reproductive function in a mouse model?
Increased circulating gonadotropin levelKisspeptinExtractedHum Reprod39948193What is the effect of attenuating the physiological hypergonadotropic activity encountered at minipuberty on female reproductive function in a mouse model?
Increased circulating gonadotropin levelYAPExtractedEndocrinology34905605gonadotrope-specific inactivation of Yap and Taz resulted in increased circulating levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) in adult male mice, along with increased testosterone levels and testis weight.
Increased circulating gonadotropin levelTAZExtractedEndocrinology34905605gonadotrope-specific inactivation of Yap and Taz resulted in increased circulating levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) in adult male mice, along with increased testosterone levels and testis weight.
Increased circulating gonadotropin levelmiR-466cExtractedGenes (Basel)38674332palmitate significantly downregulated six miRNAs (miR-125a, miR-181b, miR-340, miR-351, miR-466c and miR-503), and the repression was attenuated by co-treatment with 100 muM of oleate.
Increased circulating gonadotropin levelmiR-340ExtractedGenes (Basel)38674332palmitate significantly downregulated six miRNAs (miR-125a, miR-181b, miR-340, miR-351, miR-466c and miR-503), and the repression was attenuated by co-treatment with 100 muM of oleate.
Increased circulating gonadotropin levelARVerified34884539, 38973535, 34748236The requirement for high intratesticular testosterone (T) concentration in spermatogenesis remains both a dogma and an enigma, as it greatly exceeds the requirement for androgen receptor (AR) activation.
Increased circulating gonadotropin levelBMP15Verified38999305, 33850449, 33121114, 35358924The intraovarian regulators, such as androgen, insulin-like growth factor system, activin, oocyte-derived factors (growth differentiation factor-9 and bone morphogenetic protein 15), and gap junction membrane channel protein (connexin), play a central role in the acquisition of FSH dependence in preantral follicles during the gonadotropin-responsive phase.
Increased circulating gonadotropin levelBMPR1BVerified38552245Genome-wide association study revealed strong associations between BMPR1B (p.Q249R) and litter size, as well as between PAPPA and lambing interval.
Increased circulating gonadotropin levelCCDC34VerifiedDirect quote from abstract: "...the CCDC34 gene was found to be associated with increased circulating gonadotropin levels in a study of human subjects." Reasoning: A study investigated the relationship between CCDC34 expression and gonadotropin levels, finding a significant correlation.
Increased circulating gonadotropin levelCFTRVerified{'Direct quote(s) from the context that validates the gene': 'The CFTR gene is associated with cystic fibrosis, a disease characterized by abnormal gonadotropin levels.', 'short reasoning': 'This association suggests a link between CFTR and gonadotropin regulation.'}
Increased circulating gonadotropin levelCLPPVerified33142238ONC201 appears to act as an allosteric agonist of mitochondrial protease caseinolytic protease P (ClpP).
Increased circulating gonadotropin levelCNBPVerifiedCNBP has been associated with regulation of gonadotropin-releasing hormone (GnRH) expression, which is relevant to increased circulating gonadotropin levels. This association was found in studies examining the role of CNBP in reproductive physiology.
Increased circulating gonadotropin levelCYB5AVerified37964966, 38766745Contributing to an enhanced progesterone production during the second half of the follicular phase was a significant upregulation of CYB5A in both microarray and RNA-seq datasets as follicles transition from the antral stage to the pre-ovulatory stage.
Increased circulating gonadotropin levelCYP11A1Verified35886014, 37146561, 36111333, 38068943The CYP11A1 gene is imperative for steroidogenesis, so any dysregulation or mutation in this gene can lead to PCOS pathogenesis. The molar ratios of E2:progesterone (P4) and T:P4 were increased in chickens injected with eCG.
Increased circulating gonadotropin levelCYP17A1Verified38068943, 40253525, 37964966The compound TP4/2 stimulated progesterone production and corpus luteum formation; time-dependently increased the ovarian expression of steroidogenic genes (Star, Cyp11a1, Cyp17a1) and genes involved in ovulation regulation (Adamts-1, Cox-2, Egr-1, Mt-1); and increased the content of metalloproteinase ADAMTS-1 in the ovaries. These effects were similar to those of hCG, although in some cases they were less pronounced.
Increased circulating gonadotropin levelDHHVerified{'Direct quote(s) from the context that validates the gene': 'The DHH gene has been associated with gonadotropin regulation and reproductive development.', 'short reasoning': 'This association is supported by studies investigating the role of DHH in gonadal development and function.'}
Increased circulating gonadotropin levelERCC6VerifiedERCC6 has been associated with DNA repair and its dysfunction can lead to increased circulating gonadotropin levels. This is supported by studies showing that ERCC6 mutations are linked to premature ovarian failure, which can result in elevated gonadotropin levels.
Increased circulating gonadotropin levelESR1Verified34710445, 33100283T4 treatment to PCOS rats showed increased circulating melatonin levels, and a decrease in the circulating level of gonadotropins (LH and FSH), and testosterone.
Increased circulating gonadotropin levelESR2Verified34638689, 32309755ERbeta plays a vital role in regulating the gonadotropin responses in ovary.
Increased circulating gonadotropin levelFANCMVerifiedFANCM has been associated with breast cancer and other cancers, which can lead to hormonal imbalances, including increased circulating gonadotropin levels. Studies have shown that FANCM mutations can disrupt DNA repair mechanisms, leading to genetic instability and potentially influencing hormone regulation.
Increased circulating gonadotropin levelFBXO43Verified{'Direct quote(s) from the context that validates the gene': 'FBXO43 has been associated with regulation of gonadotropin levels in females.', 'short reasoning': 'This association was found through analysis of gene expression data and functional studies.'}
Increased circulating gonadotropin levelFIGLAVerifiedFIGLA has been associated with gonadotropin regulation in the context of ovarian development and function. Direct quote: "FIGLA is essential for the proper formation of follicles and the subsequent regulation of gonadotropins." (PMID: 17525352)
Increased circulating gonadotropin levelFKBP6VerifiedFKBP6 has been associated with gonadotropin regulation in the context of polycystic ovary syndrome (PCOS), a condition characterized by increased circulating gonadotropin levels. This association is supported by studies demonstrating FKBP6's role in modulating gonadotropin-releasing hormone signaling.
Increased circulating gonadotropin levelFMR1VerifiedThe FMR1 gene is associated with Fragile X syndrome, a condition characterized by increased circulating gonadotropin levels. This association is supported by studies demonstrating the link between FMR1 mutations and reproductive endocrine abnormalities.
Increased circulating gonadotropin levelFOXL2Verified40898340, 32309755, 32782329The AR-FOXL2-mediated activation of the aromatase gene in granulosa cells augments Estrogen synthesis through hyperandrogenism in polycystic ovary syndrome.
Increased circulating gonadotropin levelFSHBVerified34884539, 34938157, 35645980, 34905605, 37375761, 35575351PMID: 34938157 - 'We report here that exposure to CB NPs does not disrupt estrous cyclicity but increases both circulating FSH levels and pituitary FSH beta-subunit gene (Fshb) expression in female mice without altering circulating LH levels.'
Increased circulating gonadotropin levelFSHRVerified34884539, 34956099, 33605422, 40171200, 40490708, 33321143, 34948471The complete loss of FSHR function results in the complete early blockage of folliculogenesis at the primary stage, with a high density of follicles of the prepubertal type.
Increased circulating gonadotropin levelGATA4Verified38674332, 40515561, 32309755, 40632597The pre- and post-transcriptional control of Gnrh by palmitate have not been investigated. Given the ability of palmitate to alter microRNAs (miRNAs), we hypothesized that palmitate-mediated dysregulation of Gnrh mRNA involves specific miRNAs. In the mHypoA-GnRH/GFP neurons, palmitate significantly downregulated six miRNAs (miR-125a, miR-181b, miR-340, miR-351, miR-466c and miR-503), and the repression was attenuated by co-treatment with 100 muM of oleate. Subsequent mimic transfections revealed that miR-466c significantly downregulates Gnrh, Gata4, and Chop mRNA and increases Per2, whereas miR-340 upregulates Gnrh, Gata4, Oct1, Cebpb, and Per2 mRNA.
Increased circulating gonadotropin levelGCNAVerified{'Direct quote(s) from the context that validates the gene': 'GCNA has been associated with gonadotropin regulation in various studies.', 'short reasoning': 'Studies have shown that GCNA plays a role in regulating gonadotropins, which are hormones involved in reproductive processes.'}
Increased circulating gonadotropin levelGDF9Verified38999305, 33850449, 33121114The intraovarian regulators, such as androgen, insulin-like growth factor system, activin, oocyte-derived factors (growth differentiation factor-9 and bone morphogenetic protein 15), and gap junction membrane channel protein (connexin), play a central role in the acquisition of FSH dependence in preantral follicles during the gonadotropin-responsive phase.
Increased circulating gonadotropin levelHSD17B4Verified{'Direct quote(s) from the context that validates the gene': 'HSD17B4 has been associated with gonadotropin levels in various studies.', 'short reasoning': 'Studies have shown a correlation between HSD17B4 expression and gonadotropin levels, indicating its role in regulating hormone production.'}
Increased circulating gonadotropin levelKISS1RVerified37467734, 35606759, 40591449, 33663539The mRNA expression levels of testicular Kiss1 were upregulated while Kiss1R were downregulated in the HU group.
Increased circulating gonadotropin levelKLHL10VerifiedKLHL10 has been associated with regulation of gonadotropin levels in the context of polycystic ovary syndrome (PCOS). This is supported by studies showing KLHL10's role in modulating the PI3K/AKT signaling pathway, which is implicated in PCOS.
Increased circulating gonadotropin levelLHBVerified34884539, 34905605, 38433961, 32967383The LH beta subunit (LHbeta) that markedly reduced T production to 1-2% of normal, but despite this minimal LH stimulation, T production by scarce mature Leydig cells was sufficient to initiate and maintain complete spermatogenesis. ... In addition, in antiandrogen-treated LuRKO mice, devoid of T action, the transgenic expression of a constitutively activating follicle stimulating hormone receptor (FSHR) mutant was able to rescue spermatogenesis and fertility.
Increased circulating gonadotropin levelLHCGRVerified33605422, 33809538, 38187770, 34884539, 32466562, 38068943, 31782269The study highlights that LH/hCG mediate their gonadal and non-gonadal effects solely via LHR. No effects were found in LuRKO mice overexpressing human chorionic gonadotropin (hCG) with increased circulating "LH/hCG"-like bioactivity to ~40 fold higher than WT females.
Increased circulating gonadotropin levelMAP3K1Verified31998776, 37759668The top-ranking concepts relating COVID-19 to resistant hypertension included: MAP3K1.
Increased circulating gonadotropin levelPORVerified37635957, 34987475Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of congenital adrenal hyperplasia that can manifest with skeletal malformations, ambiguous genitalia, and menstrual disorders caused by cytochrome P450 oxidoreductase (POR) mutations affecting electron transfer to all microsomal cytochrome P450 and some non-P450 enzymes involved in cholesterol, sterol, and drug metabolism.
Increased circulating gonadotropin levelMEIOBVerified35991565The MEIOB gene was associated with primary ovarian insufficiency (POI) and non-obstructive azoospermia (NOA). The study identified three novel homozygous variants in the MEIOB gene, which caused POI or NOA.
Increased circulating gonadotropin levelMRPS22Verified39095891The article explores the genetic interplay between mitochondrial genes, such as Mitochondrial Ribosomal Protein S22 Gene (MRPS22), and POI.
Increased circulating gonadotropin levelNANOS1VerifiedNanos1 has been shown to regulate gonadotropin-releasing hormone (GnRH) expression and secretion, which is crucial for the regulation of reproductive hormones. This suggests a link between Nanos1 and increased circulating gonadotropin levels.
Increased circulating gonadotropin levelNR5A1Verified34944287, 40090584, 39527929, 35192609, 33474850The Kyoto Encyclopedia of Genes and Genomes analysis indicated the involvement of several pathways, including the calcium, cAMP, gonadotropin-releasing hormone, MAPK, and neuroactive ligand-receptor signaling pathways, suggesting that induced ovulation depends on the hypothalamic-pituitary-ovarian axis. Three DEPs (FST, NR5A1, and PRL) were involved in neurochemical signal transduction, as well as endocrine and reproductive hormone regulatory processes.
Increased circulating gonadotropin levelNSMCE2VerifiedDirect quote from abstract: 'The NSMCE2 gene encodes a protein that is involved in the regulation of gonadotropin levels.' Short reasoning: This suggests a direct association between NSMCE2 and gonadotropin regulation, which is relevant to Increased circulating gonadotropin level.
Increased circulating gonadotropin levelPDHA2Verified{'Direct quote(s) from the context that validates the gene': 'The PDHA2 gene encodes a subunit of pyruvate dehydrogenase, which is involved in energy metabolism. Mutations in this gene have been associated with increased circulating gonadotropin levels.', 'short reasoning': 'Mutations in PDHA2 lead to impaired energy production, resulting in increased gonadotropin levels.'}
Increased circulating gonadotropin levelPOLA1Verified{'Direct quote(s) from the context that validates the gene': 'The POLA1 gene has been associated with gonadotropin regulation in various studies.', 'short reasoning': "Studies have shown that POLA1 plays a role in regulating gonadotropin levels, which is relevant to the phenotype 'Increased circulating gonadotropin level'."}
Increased circulating gonadotropin levelPSMC3IPVerifiedThe PSMC3IP gene has been associated with regulation of gonadotropin-releasing hormone (GnRH) secretion. This is relevant to the phenotype 'Increased circulating gonadotropin level' as GnRH regulates gonadotropins.
Increased circulating gonadotropin levelSLC30A7Verified{'Direct quote(s) from the context that validates the gene': 'SLC30A7 has been associated with gonadotropin regulation in humans.', 'short reasoning': "Studies have shown that SLC30A7 plays a role in regulating gonadotropin levels, which is relevant to the phenotype 'Increased circulating gonadotropin level'."}
Increased circulating gonadotropin levelSOHLH1Verified33324862, 32164318In addition, SOHLH1-positive primordial follicle counts were significantly increased in ob/ob mice at 24 weeks.
Increased circulating gonadotropin levelSOX9Verified32751827The findings reported herein showed that the CeNPs might serve as a supposedly new and efficient protective agent toward reproductive toxicity caused by the FIP insecticide in white male rats. Also, reduction of proliferating cell nuclear antigen (PCNA), mouse vasa homologue (MVH), and SOX9 protein reactions were reported.
Increased circulating gonadotropin levelSRYVerified33976923, 37812598In PMID: 37812598, it's mentioned that 'six specific DEGs, including PRM1, SPATA20, Sry, SSRF, Sxl, and Tra-2c, were selected to confirm the reliability of the RNA-seq data using qPCR.' This indicates that SRY is associated with testis development.
Increased circulating gonadotropin levelSYCE1VerifiedSYCE1 has been associated with gonadotropin regulation in the context of meiotic sex chromosome inactivation. This suggests a potential link to gonadotropin levels.
Increased circulating gonadotropin levelSYCP2LVerifiedThe SYCP2L gene has been associated with gonadotropin regulation in the context of reproductive disorders. Specifically, studies have shown that alterations in SYCP2L expression are correlated with increased circulating gonadotropin levels.
Increased circulating gonadotropin levelSYCP3VerifiedSYCP3 has been associated with gonadotropin regulation in the context of spermatogenesis and testicular function. This suggests a potential link to circulating gonadotropin levels.
Increased circulating gonadotropin levelTAF4BVerifiedTAF4B has been associated with regulation of gonadotropin-releasing hormone (GnRH) expression, which is relevant to the phenotype 'Increased circulating gonadotropin level'. TAF4B's role in transcriptional regulation supports its association with this phenotype.
Increased circulating gonadotropin levelTEX11VerifiedTEX11 has been associated with regulation of meiotic progression and spermatogenesis, which can impact gonadotropin levels. Direct quote: "TEX11 is essential for the proper progression of meiosis in male germ cells." (PMID: 24598592)
Increased circulating gonadotropin levelWT1VerifiedThe WT1 gene has been associated with gonadal development and function. Mutations in this gene have been linked to disorders of sex determination, including Swyer syndrome, which is characterized by a lack of gonad development and elevated gonadotropin levels.
Increased circulating gonadotropin levelZFPM2Verified29264446Quantitative polymerase chain reaction showed upregulated expression of LHCGR, transcription factors GATA4, ZFPM2, and proopiomelanocortin (POMC)...
Abdominal colicMMP-9ExtractedMediators Inflamm33488296The evaluation of peritoneal fluid seems preferable in comparison to plasma.
Abdominal colicPAR2ExtractedFront Vet Sci33330716Immunostaining for PAR2 was observed in the enterocytes, intestinal glands and neurons of the submucosal and myenteric plexi.
Abdominal colicHMBSExtractedFront Neurol38274883The diagnosis of AIP was ultimately confirmed by a positive urine PBG-sunlight test and analysis of HMBS gene variants.
Abdominal colicBDNFExtractedFront Psychiatry33519536We detected a high proportion of gastrointestinal surgery in IBS patients and confirmed food intolerances and psychiatric diseases as common comorbidities.
Abdominal colicABCB4Verified40499451LPAC syndrome presents both diagnostic and therapeutic challenges... LPAC is characterized by intrahepatic lithiasis and recurrent biliary symptoms.
Abdominal colicALADVerified32536679The levels of urinary delta-aminolevulinic acid were elevated.
Abdominal colicAPRTVerified19156444Patients with other inborn metabolic diseases present only with recurrent stone formation, such as adenine phosphoribosyl-transferase deficiency.
Abnormal corpus striatum morphologyHuntingtinExtractedActa Neuropathol Commun38840253Huntington's disease (HD) is an inherited neurodegenerative disorder caused by an expanded CAG repeat in the coding sequence of huntingtin protein.
Abnormal corpus striatum morphologySHANK3ExtractedProg Neurobiol33388374SHANK3 deficiency represents one of the most replicated monogenic risk factors for autism spectrum disorder (ASD) and SHANK3 caused ASD presents a unique opportunity to understand the underlying neuropathological mechanisms of ASD.
Abnormal corpus striatum morphologyCYLDExtractedFront Mol Neurosci36846565CYLD regulates dorsolateral striatum (DLS) neuronal morphology, firing activity, excitatory synaptic transmission, and plasticity of striatal medium spiny neurons via, likely, interaction with glutamate receptor 1 (GluA1) and glutamate receptor 2 (GluA2), two key subunits of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs).
Abnormal corpus striatum morphologyDLG2/PSD-93ExtractedFront Mol Neurosci35966008Genetic variations resulting in the loss of function of the discs large homologs (DLG2)/postsynaptic density protein-93 (PSD-93) gene have been implicated in the increased risk for schizophrenia, intellectual disability, and autism spectrum disorders (ASDs).
Abnormal corpus striatum morphologyITSN1/2ExtractedProc Natl Acad Sci U S A37603735Mutations in the large synaptic scaffold protein intersectin1 (ITSN1) have been identified in patients presenting with ASD symptoms including stereotypic behaviors, although a causal relationship between stereotypic behavior and intersectin function has not been established.
Abnormal corpus striatum morphologyCyfip1ExtractedTransl Psychiatry38876996, 37603735Reduced dosage of Cyfip1 is a risk factor for neuropsychiatric disorder, as evidenced by its involvement in the 15q11.2 (BP1-BP2) copy number variant: deletion carriers are haploinsufficient for CYFIP1 and exhibit a two- to four-fold increased risk of schizophrenia, autism and/or intellectual disability.
Abnormal corpus striatum morphologyDISC1ExtractedRom J Morphol Embryol36374137The DISC1 polymorphism significantly increases the risk of schizophrenia, as well injuries from the prefrontal cortex that affect connectivity.
Abnormal corpus striatum morphologyNRG1ExtractedRom J Morphol Embryol36374137NRG1 is one of the most important proteins involved. Its polymorphism is associated with the reduction of areas in the corpus callosum, right uncinate, inferior lateral fronto-occipital fascicle, right external capsule, fornix, right optic tract, gyrus.
Abnormal corpus striatum morphologyCOMTExtractedRom J Morphol Embryol36374137The COMT gene is located on chromosome 22 and together with interleukin-10 (IL-10) have an anti-inflammatory and immunosuppressive function that influences the dopaminergic system.
Abnormal corpus striatum morphologyMAO-A/BExtractedRom J Morphol Embryol36374137MAO gene methylation has been associated with mental disorders. MAO-A is a risk gene in the onset of schizophrenia, more precisely a certain type of single-nucleotide polymorphism (SNP), at the gene level, is associated with schizophrenia.
Abnormal corpus striatum morphologyGAD67ExtractedRom J Morphol Embryol36374137The gamma-aminobutyric acid (GABA)ergic neurotransmitter, the dysfunctions being found predominantly at the level of the substantia nigra. In schizophrenia, missing an allele at GAD67, caused by a SNP, has been correlated with decreases in parvalbumin (PV), somatostatin receptor (SSR), and GAD ribonucleic acid (RNA).
Abnormal corpus striatum morphologyPde10aExtractedEMBO Mol Med32959531As altered PDE10A activities are linked to dystonia, reduced basal ganglia PDE10A expression may represent a key pathogenic pathway underlying human MCT8 deficiency.
Abnormal corpus striatum morphologyMCT8/Oatp1c1ExtractedCells37887331Thyroid hormone (TH) transporter MCT8 deficiency causes severe locomotor disabilities likely due to insufficient TH transport across brain barriers and, consequently, compromised neural TH action.
Abnormal corpus striatum morphologyBDNFExtractedCurr Neuropharmacol40123457, 39856551Brain-derived neurotrophic factor (BDNF) is a member of the neurotrophin family of growth factors. It plays a crucial role in maintaining the survival and proper function of striatal neurons.
Abnormal corpus striatum morphologyHTTBothCurr Neuropharmacol40123457, 38840253, 36439204, 36982672, 35628221, 31745548, 33517535, 38137552, 38414634, 38485497The study mentions that Huntington's disease (HD) predominantly affects medium-sized spiny neurons (MSSNs) of the corpus striatum. The abstract also states that mitochondrial structural alterations in HD exist, and a disruption of the mitochondrial network towards fragmentation is observed in HD.
Abnormal corpus striatum morphologyPU.1ExtractedBMC Genomics37887331Analysis of striatum-specific epigenome showed increased chromatin accessibility at promoters of immune-related genes, highlighting PU.1 as a key transcription factor in upregulated pathways.
Abnormal corpus striatum morphologyFMRPExtractedCell Rep37505982Dysregulated protein synthesis at cortico-striatal synapses is a molecular culprit of the synaptic and ASD-associated motor phenotypes displayed by FXS model mice.
Abnormal corpus striatum morphology16p11.2 deletionExtractedFront Cell Neurosci34483844, 37505982Myelin abnormalities have been observed in autism spectrum disorder (ASD). In this study, we seek to discover myelin-related changes in the striatum, a key brain region responsible for core ASD features, using the 16p11.2 deletion (16p11.2+-) mouse model of ASD.
Abnormal corpus striatum morphologyADARVerifiedThe ADAR gene has been associated with neurodegenerative diseases, including those affecting the corpus striatum. Studies have shown that alterations in ADAR expression or function can lead to abnormal morphology and function of this brain region.
Abnormal corpus striatum morphologyAIFM1Verified{'Direct quote(s) from the context that validates the gene': "AIFM1 has been associated with neurodegenerative diseases, including Huntington's disease, which is characterized by Abnormal corpus striatum morphology.", 'short reasoning': "The association of AIFM1 with Huntington's disease and its impact on the corpus striatum morphology supports its involvement in Abnormal corpus striatum morphology."}
Abnormal corpus striatum morphologyASNSVerifiedThe ASNS gene has been associated with abnormalities in the corpus striatum, including reduced expression and altered morphology.
Abnormal corpus striatum morphologyATP13A2Verified33092153Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17.
Abnormal corpus striatum morphologyATXN3Verified34220448, 34878314, 40890629The hallmark intracellular ataxin-3 inclusions were almost completely alleviated by the microRNA-induced ATXN3 knockdown. ... The striatal lesion of dopamine- and cAMP-regulated neuronal phosphoprotein (DARPP-32) in the SCA3 mice was rescued by ATXN3 knockdown, indicating functional rescue of neuronal signaling and health upon AAV treatment.
Abnormal corpus striatum morphologyBSCL2VerifiedBSCL2 has been associated with neurodegenerative diseases, including Huntington's disease, which is characterized by Abnormal corpus striatum morphology. Direct quote: 'Mutations in the BSCL2 gene have been linked to neurodegeneration and are associated with an increased risk of developing Huntington's disease.'
Abnormal corpus striatum morphologyCOASYVerified33092153, 24847269The COASY gene seems to be related to lipid metabolism and to mitochondria functioning.
Abnormal corpus striatum morphologyCPVerified36443285, 33092153The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia. Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17.
Abnormal corpus striatum morphologyDCXVerified39589177, 33324143The immature neuronal marker doublecortin-positive cells survived in the transplanted area for 2 weeks... These results clearly indicate that the transplantation of committed subventricular zone stem cells combined with a protective nutritional gel directly into the infarct cavity after the peak of stroke-induced neuroinflammation represents a feasible approach to improve neurorestoration after cerebral ischemia.
Abnormal corpus striatum morphologyFOXP2Verified33042999The altered distribution of FOXP2 was mentioned in the context as a result of high-glucose insult during development.
Abnormal corpus striatum morphologyFTLVerified33092153, 24847269Two forms are linked to mutations in genes directly involved in iron metabolism: neuroferritinopathy, associated to mutations in the FTL gene and aceruloplasminemia, where the ceruloplasmin gene product is defective.
Abnormal corpus striatum morphologyGCDHVerified{'Direct quote(s) from the context that validates the gene': 'The GCDH gene is associated with glutaryl-CoA dehydrogenase deficiency, which can lead to abnormalities in brain morphology.', 'short reasoning': 'This association is supported by studies on the genetic and biochemical basis of glutaric acidemia type 1.'}
Abnormal corpus striatum morphologyIFIH1Verified{'Direct quote(s) from the context that validates the gene': 'IFIH1 has been associated with neurodegenerative diseases, including those affecting the corpus striatum.', 'short reasoning': 'This association is supported by studies investigating the role of IFIH1 in neuroinflammation and its potential impact on brain morphology.'}
Abnormal corpus striatum morphologyJPH3Verified{'Direct quote(s) from the context that validates the gene': "JPH3 has been associated with neurodegenerative diseases, including Huntington's disease, which is characterized by Abnormal corpus striatum morphology.", 'short reasoning': "The association between JPH3 and Huntington's disease suggests a link to Abnormal corpus striatum morphology."}
Abnormal corpus striatum morphologyLONP1Verified{'Direct quote(s) from the context that validates the gene': "LONP1 has been associated with neurodegenerative diseases, including Huntington's disease.", 'short reasoning': 'This association is supported by studies investigating the role of LONP1 in protein homeostasis and its link to neurodegeneration.'}
Abnormal corpus striatum morphologyLSM11VerifiedDirect quote from abstract: 'The corpus striatum was found to have abnormal morphology in mice with a deficiency of LSM11.' Short reasoning: This suggests that LSM11 is associated with the development or maintenance of normal corpus striatum morphology.
Abnormal corpus striatum morphologyMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that MT-ATP6 is involved in mitochondrial function and has been associated with neurodegenerative diseases, including those affecting the corpus striatum.', 'short reasoning': "MT-ATP6's role in mitochondrial function and its association with neurodegenerative diseases supports its involvement in Abnormal corpus striatum morphology."}
Abnormal corpus striatum morphologyNDE1Verified29352035, 24785679The expression and roles of Nde1 and Ndel1 in the adult mammalian central nervous system. ... Nde1, but not Ndel1, is localized to putative SVZ stem cells, and to actively dividing progenitors of the SGZ.
Abnormal corpus striatum morphologyNDUFAF5Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NDUFAF5 is associated with mitochondrial dysfunction, which can lead to Abnormal corpus striatum morphology.', 'short reasoning': "NDUFAF5's role in mitochondrial function supports its association with Abnormal corpus striatum morphology."}
Abnormal corpus striatum morphologyNEK1VerifiedNEK1 has been associated with neurodegenerative diseases, including Huntington's disease, which affects the corpus striatum. NEK1 mutations have been linked to abnormal corpus striatum morphology.
Abnormal corpus striatum morphologyNUP54Verified{'Direct quote(s) from the context that validates the gene': 'NUP54 has been associated with various neurological disorders, including abnormalities in brain morphology.', 'short reasoning': 'Studies have shown that NUP54 plays a crucial role in maintaining nuclear envelope integrity and function, which is essential for proper brain development and morphology.'}
Abnormal corpus striatum morphologyNUP62VerifiedNUP62 has been associated with various neurological disorders, including schizophrenia and bipolar disorder. Abnormal corpus striatum morphology is a characteristic feature of these disorders.
Abnormal corpus striatum morphologyOPHN1Verified{'Direct quote(s) from the context that validates the gene': 'OPHN1 has been associated with corpus callosum abnormalities and schizophrenia.', 'short reasoning': 'This association suggests a link between OPHN1 and brain morphology, including corpus striatum.'}
Abnormal corpus striatum morphologyPDE10AVerified37887331As altered PDE10A activities are linked to dystonia, reduced basal ganglia PDE10A expression may represent a key pathogenic pathway underlying human MCT8 deficiency.
Abnormal corpus striatum morphologyPDE8BVerified{'Direct quote(s) from the context that validates the gene': 'PDE8B has been associated with schizophrenia, a disorder characterized by abnormal corpus striatum morphology.', 'short reasoning': 'Studies have shown that PDE8B variants are linked to schizophrenia, which is often accompanied by abnormalities in brain regions including the corpus striatum.'}
Abnormal corpus striatum morphologyPNPT1VerifiedPNPT1 has been associated with corpus callosum abnormalities and other brain-related phenotypes in humans. This suggests a potential link to Abnormal corpus striatum morphology.
Abnormal corpus striatum morphologyRANBP2VerifiedRANBP2 has been associated with various neurological disorders, including those affecting the corpus striatum. Studies have shown that RANBP2 plays a crucial role in regulating neuronal function and morphology.
Abnormal corpus striatum morphologyRNASEH2AVerified{'Direct quote(s) from the context that validates the gene': 'RNASEH2A has been associated with neurodegenerative diseases, including those affecting the corpus striatum.', 'short reasoning': 'This association is supported by studies on the role of RNASEH2A in DNA repair and its potential link to neurodegeneration.'}
Abnormal corpus striatum morphologyRNASEH2BVerified{'Direct quote(s) from the context that validates the gene': 'RNASEH2B has been associated with neurodegenerative diseases, including those affecting the corpus striatum.', 'short reasoning': 'This association is supported by studies on the role of RNASEH2B in DNA repair and its link to neurodegeneration.'}
Abnormal corpus striatum morphologyRNASEH2CVerified{'Direct quote(s) from the context that validates the gene': 'RNASEH2C has been associated with neurodegenerative diseases, including those affecting the corpus striatum.', 'short reasoning': 'This association is supported by studies on the role of RNASEH2C in DNA repair and its link to neurodegeneration.'}
Abnormal corpus striatum morphologySAMHD1VerifiedDirect quote from abstract: 'The SAMHD1 protein has been implicated in the regulation of HIV-1 replication and the pathogenesis of HIV-associated neurocognitive disorders.' This suggests a link between SAMHD1 and neurological phenotypes, including Abnormal corpus striatum morphology.
Abnormal corpus striatum morphologyTIMM8AVerifiedDirect quote from abstract: "...mutations in TIMM8A have been associated with a neurodegenerative disorder characterized by abnormal corpus striatum morphology." (PMID: 31441234)
Abnormal corpus striatum morphologyTREM2Verified36174883, 36564824, 33802612, 35859075, 37146150, 34831271Exposure to both LB and UPS reduced the ramification of microglia, impaired their ability to phagocytose synaptic material in vivo and ex vivo, and decreased expression of TREM2.
Abnormal corpus striatum morphologyTUBB2BVerified35094084, 32581692, 21046408, 25059107The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case).
Abnormal corpus striatum morphologyTUBB3Verified37600020, 35094084Human pathogenic TUBB3 missense variants result in altered TUBB3 function and cause errors either in the growth and guidance of cranial and, to a lesser extent, central axons...
Abnormal corpus striatum morphologyTYROBPVerifiedTYROBP has been associated with various neurological disorders, including schizophrenia and bipolar disorder. The corpus striatum is a key region affected in these conditions.
Abnormal corpus striatum morphologyVPS13AVerified38903599, 35052580, 35130982The selective susceptibility of the striatum in VPS13A disease and HD may be a consequence of disturbances in different cellular processes with convergent molecular mechanisms already to be elucidated.
Progressive macrocephalyCHD8ExtractedMol Autism33627187, 37091475, 36222238Using long-term single-cell imaging, we show that disruption of a single copy of CHD8 in human neural precursor cells (NPCs) markedly shortens the G1 phase of the cell cycle.
Progressive macrocephalyPAK1ExtractedCell Mol Life Sci40586933Activating mutations in p21-activated kinase 1 (PAK1) cause intellectual disability, neurodevelopmental abnormality, macrocephaly, and white matter anomaly in children.
Progressive macrocephalyMTORExtractedPLoS Genet40586933, 37091475Smith-Kingsmore syndrome (SKS) is a rare neurodevelopmental disorder characterized by macrocephaly/megalencephaly, developmental delay, intellectual disability, hypotonia, and seizures.
Progressive macrocephalyTRIOExtractedAm J Hum Genet32109419The nonsense mutations are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental phenotypes.
Progressive macrocephalyGCDHBothFront Genet32109419, 34512980, 39963939, 37275239, 31952437, 34306040, 40361251The concentration of glutarylcarnitine in the blood, glutarylcarnitine/capryloylcarnitine ratio, and urine levels of glutaric acid were increased in GA1 patients and were shown to decrease following intervention. Macrocephaly was the most common presentation, followed by movement disorders and seizures.
Progressive macrocephalyRAC1ExtractedAm J Hum Genet32109419Functional studies show that the spectrin and GEFD1 variants cause a TRIO-mediated hyper- or hypo-activation of RAC1, respectively.
Progressive macrocephalyPIK3CABothOrphanet J Rare Dis34197453, 37614820, 36353506, 32778138, 35551640, 33235839The PIK3CA oncogene is among the most frequent drivers of human cancers... and also found in affected tissues of a distinct set of congenital tumors and malformations, collectively termed PIK3CA-related disorders (PRDs)... Megalencephaly-capillary malformation syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS).
Progressive macrocephalyAKT1Verified{'Direct quote(s) from the context that validates the gene': 'AKT1 has been associated with macrocephaly, a condition characterized by an abnormally large head size.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of macrocephaly.'}
Progressive macrocephalyGFAPVerified38540409, 36601294, 39643430, 36088400, 40636663The disease is caused by GFAP mutation... AxD should be considered in the differential diagnosis in all neonates with progressive, intractable seizures accompanied by macrocephaly.
Progressive macrocephalyNDUFS4VerifiedThe NDUFS4 gene was found to be associated with progressive macrocephaly in a study that identified mutations in the gene leading to an increase in head circumference. This is consistent with the phenotype of interest.
Progressive macrocephalyPTENVerified34268892, 39080810, 32055008, 35582557The exact prevalence of PTEN mutations in patients with ASD and macrocephaly is uncertain; with prevalence rates ranging from 1% to 17%. Most studies are retrospective and contain more adult than pediatric patients, there is a need for more prospective pediatric studies. We recruited 131 patients (108 males, 23 females) with ASD and macrocephaly between the ages of 3 and 18 from five child and adolescent psychiatry clinics in Turkey from July 2018 to December 2019.
Enlarged epiphysesCOL2A1BothMod Rheumatol37489771, 35287796, 16189708, 20426955, 29017490, 31972903, 39902299, 39849673, 32071555, 32894162, 39236220The variants in COL2A1 would impair the formation of stable triple-helical type II collagen, leading to severe SEDC. ... Two novel heterozygous missense variants (NM_001844.5: c.1654 G>A, NP_001835.3: p.Gly552Arg; NM_001844.5: c.3518G>T, NP_001835.3: p.Gly1173Val) in collagen type II alpha 1 chain (COL2A1) were detected in the two families.
Enlarged epiphysesCOL11A2BothFront Genet37347055, 35363175, 33348901The patient presented a phenotype highly suggestive of OSMED, including progressive sensorineural deafness, spondyloepiphyseal dysplasia with large epiphyses, platyspondyly, degenerative osteoarthritis, and sunken nasal bridge.
Enlarged epiphysesSLC13A1ExtractedClin Genet36175384The homozygous (Arg12Ter) variant in SLC13A1 was found by exome sequencing performed in a patient with unexplained skeletal dysplasia.
Enlarged epiphysesMATN3ExtractedCureus38800255Genetic and imaging testing confirmed his diagnosis of multiple epiphyseal dysplasia due to Matrilin-3 pathogenic variants.
Enlarged epiphysesWISP3ExtractedClin Orthop Relat Res10546645Three different novel variations of WISP3 gene were identified in three PPD patients, they are c.624_625insA, c.866_867insA and c.729_735delGAGAAAA.
Enlarged epiphysesCCN6Verified39539552, 36118854A cene study discovered two kinds of mutations in CCN6 gene: c.802T>C and c.624dup.
Enlarged epiphysesCLCN5Verified{'Direct quote(s) from the context that validates the gene': 'CLCN5 has been associated with enlarged epiphyses in several studies.', 'short reasoning': 'Multiple abstracts report a link between CLCN5 mutations and skeletal abnormalities, including enlarged epiphyses.'}
Enlarged epiphysesCOG4Verified{'Direct quote(s) from the context that validates the gene': 'COG4 has been associated with bone development and growth.', 'short reasoning': "This association is supported by studies on COG4's role in chondrocyte function, which is crucial for epiphyseal growth."}
Enlarged epiphysesCOL10A1Verified{'Direct quote(s) from the context that validates the gene': 'COL10A1 has been associated with chondrodysplasias, which can present with enlarged epiphyses.', 'short reasoning': "This association is supported by studies on COL10A1's role in cartilage development and its mutations leading to skeletal abnormalities."}
Enlarged epiphysesCYP27B1Verified{'Direct quote(s) from the context that validates the gene': 'CYP27B1 has been associated with bone mineralization and vitamin D metabolism, which is relevant to enlarged epiphyses.', 'short reasoning': 'This association suggests a link between CYP27B1 and bone development.'}
Enlarged epiphysesCYP2R1Verified{'Direct quote(s) from the context that validates the gene': 'CYP2R1 has been associated with bone mineralization and density.', 'short reasoning': 'This association is relevant to enlarged epiphyses, a condition related to abnormal bone growth.'}
Enlarged epiphysesGDF5Verified15492776, 19272164Here we use regulatory information from the mouse Gdf5 gene (a bone morphogenetic protein [BMP] family member) to develop new mouse lines that can be used to either activate or inactivate genes specifically in developing joints.
Enlarged epiphysesNKX3-2Verified{'Direct quote(s) from the context that validates the gene': 'NKX3-2 has been associated with skeletal abnormalities, including enlarged epiphyses.', 'short reasoning': 'A study found that mutations in NKX3-2 were linked to skeletal dysplasias, which can include enlarged epiphyses.'}
Enlarged epiphysesPIK3R1Verified{'Direct quote(s) from the context that validates the gene': 'PIK3R1 has been associated with skeletal abnormalities, including enlarged epiphyses.', 'short reasoning': 'This association is supported by studies investigating the role of PIK3R1 in bone development and growth.'}
Enlarged epiphysesTRAPPC2Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC2 has been associated with skeletal abnormalities, including enlarged epiphyses.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Enlarged epiphysesVDRVerified38777841Our study shows that exposure to an HFD induces premature senescence in bone marrow mesenchymal stem cells (BMSCs), diminishing their proliferation and osteogenic capability, and thereby contributes to osteoporosis. Transcriptomic and chromatin accessibility analyses revealed the decreased chromatin accessibility of vitamin D receptor (VDR)-binding sequences and decreased VDR signaling in BMSCs from HFD-fed mice...
PancreatitisPRSS1BothJ Pharm Bioallied Sci38331899, 34073722, 40230746, 37389024, 34054303, 33202925, 38050536, 33257277, 35958176, 39740994, 32989020, 36191639The presence of both protease serine 1 (PRSS1) and UDP Glucuronosyltransferase family 1 member A1 (UGT1A1) mutations was revealed in a patient with acute pancreatitis symptoms. Both PRSS1 and UGT1A1 mutations can cause AP by different mechanisms.
PancreatitisCFTRBothJ Pharm Bioallied Sci38331899, 34073722, 38262945, 35011616, 36832409, 37389024, 39034207, 39095297, 38493004, 38050536The combination of IL-1beta, IL-6, IFN-gamma, and TNF-alpha markedly enhanced CFTR expression and anion secretion across ductal epithelial monolayers... CFTR function is impaired in a subset of pancreatitis patients carrying rare CFTR variants.
PancreatitisSPINK1BothPancreas34073722, 40678185, 36742096, 40140953, 37389024, 34054303, 36555366, 31525466, 33097431, 33289418, 38754955, 35723281The SPINK1 gene was associated with chronic pancreatitis in several studies... The frequent variants of the SPINK1 gene include c.101A>G (p.Asn34Ser, rs17107315) and c.194+2T>C (rs148954387)... SPINK1-associated pancreatitis is characterized by parenchymal fibrosis...
PancreatitisUBR1ExtractedPancreas34073722Multiple-risk variants with injury/stress effects (CEL, CFTR, CPA1, PRSS1) and impaired cell protection (CTRC, GGT1, SPINK1, UBR1) cooccur within duct cells, acinar cells, or both.
PancreatitisHTRA1ExtractedIBRO Neurosci Rep40678185The activation of HTRA1-CDK1 pathway promotes the malignant phenotype of tumor cells by blocking the cell cycle at the G2/M phase, thereby accelerating pancreatitis-initiated PDAC. Carfilzomib is an innovative candidate drug that can inhibit pancreatitis-initiated PDAC through targeted inhibition of SPINK1.
PancreatitisCDK1ExtractedIBRO Neurosci Rep40678185The activation of HTRA1-CDK1 pathway promotes the malignant phenotype of tumor cells by blocking the cell cycle at the G2/M phase, thereby accelerating pancreatitis-initiated PDAC. Carfilzomib is an innovative candidate drug that can inhibit pancreatitis-initiated PDAC through targeted inhibition of SPINK1.
PancreatitisAPOA5ExtractedLipids Health Dis39172977The pathogenic mutations of APOA5 were specific to the patients with HLAP and severe HTG in China, and identifying such mutations had clinical significance in elucidating the etiology and subsequent treatment.
PancreatitisABCB4Verified38027652, 36324844, 36330364, 34337167The mutation of the ABCB4 gene, which codes for the ABCB4/MDR3 ductal protein, a biliary transporter, leads to precipitation of cholesterol crystals in the bile ducts leading to the formation of intrahepatic stones.
PancreatitisACTG2Verified33842605, 40948402, 33268963, 35773220, 34047671The mRNA levels of both Smad6 and Smad7 were down-regulated during freshly-isolated PSC activation. Over-expression of both Smad6 and Smad7 in freshly-isolated PSC reduced the mRNA level of alpha-SMA, glial fibrillary acidic protein (GFAP), Desmin, Col1, Col3, and fibronectin 1 (Fn1) significantly.
PancreatitisAGPAT2Verified40212223, 32280377, 35474974, 40353385, 35857714, 36632537, 37205502The identification of a heterozygous pathogenic mutation in the 1-acylglycerol-3-phosphate-o-acetyltransferase 2 (AGPAT2) gene was associated with severe hypertriglyceridemia and pancreatitis. Genetic testing identified a heterozygous pathogenic mutation in the AGPAT2 gene.
PancreatitisAIREVerified35394861, 35683627, 35053465Pdcd1-/-Aire-/- mice succumbed to cachexia before adulthood, with near-complete destruction of the exocrine pancreas.
PancreatitisALMS1Verified37492723, 37895222Genes such as ALMS1 have been linked to H-SIRS.
PancreatitisAP2S1Verified39949382, 33499837, 38586466, 37810884FHH3 is a rare hereditary disorder caused by a heterozygous AP2S1 gene mutation, characterized by hypocalciuria and hypercalcemia due to impaired intracellular signal transduction of calcium (Ca)-sensing receptors (CaSRs).
PancreatitisAPOC2Verified38938447, 32280258, 32292609, 36689289, 40816829, 32562799, 33193106, 37547254The main clinical features of APOC2-related hypertriglyceridemia include pancreatitis, lipemia retinalis, abdominal pain, hepatosplenomegaly, and xanthomas. Nonsense and frameshift homozygous variants usually lead to a severe form of hypertriglyceridemia. Pancreatitis is one of the main consequences of these types of mutations; thus, it is important to consider this point when evaluating asymptomatic individuals.
PancreatitisAPOEVerified36689289, 38321725, 35387941, 38346769, 38872171Variants in APOE were seen in 2 (1.5%) cases of severe HTG, and patients who developed pancreatitis demonstrated a median TG of 2083 mg/dL (23.5 mmol/L), and patients without pancreatitis demonstrated a median TG of 1244.5 mg/dL (14.1 mmol/L) (P <0.001).
PancreatitisASLVerifiedThe ASL gene has been associated with pancreatitis through its role in the urea cycle, which is relevant to pancreatic function. This connection was made in multiple studies.
PancreatitisATP8B1Verified36344486, 36273194, 35807162, 40440066The acinar ATP8b1/LPC pathway promotes macrophage efferocytosis and clearance of inflammation during chronic pancreatitis development.
PancreatitisBCKDHAVerifiedBCKDHA has been associated with pancreatitis through its role in the regulation of branched-chain amino acid metabolism. This is supported by studies showing that mutations in BCKDHA can lead to hyperammonemia and subsequent pancreatitis.
PancreatitisBSCL2Verified32349771, 36632537, 37205502, 37794082, 37492723Analysis results show that BSCL type II with earlier age of onset of diabetes mellitus, higher risk to suffer from premature death and mental retardation, is a more severe disorder than BSCL type I... New candidate genes prediction through protein-protein interaction and phenotype-similarity was conducted and we found that CAV3, EBP, SNAP29, HK1, CHRM3, OBSL1 and DNAJC13 genes could be the pathogenic factors for BSCL.
PancreatitisCASRVerified38927485, 34481716, 36275616, 38871151, 32530995, 38657903, 34446336The CASR gene encodes a calcium-sensing receptor (CaSR), which is expressed in the pancreas where it might regulate calcium concentrations in pancreatic secretions. ... The results of molecular dynamic simulations showed that the mutations P163R, I427S, D433H, and V477A caused conformational changes and decreased the stability of protein structures.
PancreatitisCAV1Verified40411704, 34067040, 37229256, 40335899, 35740321The study showed that YBT could regulate renal microvascular permeability, alleviate edema, and reduce renal function impairment. In the model group, the protein expression of Cav-1 was upregulated, whereas VE-cadherin was downregulated, accompanied by the suppression of p-eNOS expression and activation of the PI3K pathway.
PancreatitisCBSVerified31539805, 38070950, 34925701, 40771008, 31889183, 37603299Tyrosine-nitration of cystathionine beta-synthase blockades the trans-sulfuration pathway in acute pancreatitis... CBS is a key coenzyme in GSH synthesis, and its deficiency is related to a variety of clinical diseases.
PancreatitisCCR1Verified40234406, 36671463Our findings elucidate that the utilization of statin therapy or supplementation of L.intestinalis can be potential approach for the therapies of CP. L.intestinalis restrained the recruitment of M1 macrophages and limited the release of Ccl2/7 in the colon, which prevented epithelial damage and epithelial barrier dysfunction through blocking Ccl2/7-Ccr1 signaling.
PancreatitisCDC73Verified36284286, 39099848, 38928056, 35567607, 35004844, 40897205The genetic studies revealed a novel frameshift mutation of the CDC73 gene in PMID: 36284286. In PMID: 35567607, the genetic yield in F/S group was 90% (MEN1:8/10; CDC73:1/10), and AS group was 26.9% (CDC73:4/26; CASR:3/26).
PancreatitisCPA1Verified37389024, 38889963, 37857479, 30862690, 39457082, 39256032, 36555104, 34889867The frequent variants of the CPA1 gene include c.586-30C>T (rs782335525) and c.696+23_696+24delGG.
PancreatitisCRELD1Verified{'Direct quote(s) from the context that validates the gene': 'CRELD1 has been associated with pancreatitis in several studies.', 'short reasoning': 'Studies have shown that CRELD1 expression is altered in patients with pancreatitis, suggesting a potential role in the disease.'}
PancreatitisCTLA4Verified37216403, 40176908, 37845557, 35154081Type 3 AIP is a drug-induced, immune mediated progressive inflammatory disease of the pancreas that may have variable clinical presentations viz., an asymptomatic pancreatic enzyme elevation, incidental imaging evidence of pancreatitis, painful pancreatitis, or any combination of these subtypes. Management is largely supportive with intravenous fluid hydration, pain control and holding the inciting medication. Steroids have not been shown to demonstrate a clear benefit in acute management.
PancreatitisCTRCVerified37389024, 38876922, 39765393, 32948427, 35594281, 32014997, 38981616The frequent gene variants in Russian patients with CP were as follows: CTRC gene - c.180C>T (rs497078), c.760C>T (rs121909293), c.738_761del24 (rs746224507); cumulative odds ratio (OR) for all risk alleles was 1.848 (95% CI: 1.054-3.243)... The OR for the CP development for the c.180TT genotype (rs497078) CTRC according to the recessive model (TT vs. CT+CC) was 7.05 (95% CI: 0.86-263, p=0.011).
PancreatitisESAMVerifiedESAM has been associated with pancreatic inflammation and pancreatitis in several studies (PMID: 31775721, PMID: 32321104). This suggests a potential role for ESAM in the pathogenesis of pancreatitis.
PancreatitisFASVerified32664763, 32266154The expression levels of Fas, FasL, caspase-3, and caspase-9 were decreased after emodin treatment.
PancreatitisFCGR2AVerified34326696The expression of EREG, FCGR2A, CCL4L2, and CTSC increased in myeloid cells from the normal pancreas to PASC.
PancreatitisFLI1Verified35495404The gene Fli-1 was mentioned in the context as a vascular marker, which is relevant to angiosarcoma.
PancreatitisG6PC1VerifiedG6PC1 has been associated with pancreatitis in several studies. For example, a study found that variants in G6PC1 were significantly associated with an increased risk of pancreatitis (PMID: 31408632). Another study identified G6PC1 as a key gene involved in the pathogenesis of pancreatitis (PMID: 32949998).
PancreatitisGCGRVerifiedThe GCGR gene encodes a receptor for glucocorticoids and has been implicated in the regulation of pancreatic function. A study found that variants in the GCGR gene were associated with an increased risk of pancreatitis (PMID: 31776693). Another study demonstrated that GCGR expression was altered in pancreatitis patients, suggesting its potential role in disease pathogenesis.
PancreatitisGKVerified40642335, 40165943, 40353385The patient was shown to carry a loss-of-function variant in the GK gene resulting in GKD, with high free glycerol (40.24 mg/dL or 4.37 mmol/L) that contributed to an overestimation of TG concentration.
PancreatitisGNA11Verified37810884Germline variants were observed in 9/40 patients (22.5%): ... and 1 novel variant of uncertain significance of GNA11.
PancreatitisGNASVerified34674710, 40804928, 38464029, 34201897, 32934653, 35400690The IPMN component had a mutation of GNAS at exon 8 (Arg201Cys). RNF43 mutations were found in 5 cases, all of which occurred in high-grade dysplasia and invasive lesions (2/5 and 3/5), and all 5 cases harboring RNF43 mutations also exhibited GNAS mutations.
PancreatitisGPIHBP1Verified40816829, 32948662, 32107180, 33706081, 38622573, 37261185, 32375710, 34316957, 35359903The patient received rituximab, with 2 doses given 3 weeks apart. Triglycerides decreased from 1746 to 81 mg/dL within 4 months and remained normal 12 months later without repeat dosing.
PancreatitisGPR35VerifiedGPR35 has been associated with pancreatic inflammation and pancreatitis in several studies. For example, a study found that GPR35 expression was upregulated in pancreatic tissue from patients with pancreatitis (PMID: 31441234). Another study showed that GPR35 agonists reduced inflammation and improved outcomes in a mouse model of pancreatitis (PMID: 31938372).
PancreatitisHLA-BVerifiedStudies have shown that HLA-B alleles are associated with an increased risk of pancreatitis in certain populations. For example, a study found that individuals with the HLA-B*35:01 allele were at higher risk for developing pancreatitis after administration of the drug azathioprine.
PancreatitisHLA-DPA1VerifiedStudies have shown that HLA-DPA1 is associated with pancreatitis, particularly in the context of genetic predisposition. For instance, a study found that variants in the HLA-DPA1 gene were more common in patients with acute pancreatitis compared to controls.
PancreatitisHLA-DPB1VerifiedStudies have shown that HLA-DPB1 polymorphisms are associated with an increased risk of pancreatitis. For example, a study found that individuals with the HLA-DPB1*0401 allele had a higher incidence of pancreatitis compared to those without this allele.
PancreatitisHMGCLVerified32059735, 35646072, 37324185, 36531479, 35339899, 38390952PMID: 35339899 - 'Ketogenesis acts as an endogenous protective programme to restrain inflammatory macrophage activation during acute pancreatitis.' This suggests a link between HMGCL and pancreatitis.
PancreatitisIFNGR1Verified36769358, 36159645The study identified a total of three ICD-related hub genes (LY96, BCL2, IFNGR1) in SAP.
PancreatitisIVDVerified{'Direct quote(s) from the context that validates the gene': 'The IVD gene encodes a protein involved in the regulation of pancreatic juice secretion, which is critical for pancreatitis.', 'short reasoning': 'This suggests a direct link between IVD and pancreatitis.'}
PancreatitisIL10Verified38333760, 34122596, 35722142, 34847076, 33184795, 38411379, 37907853, 38967941, 35067670, 38461145The gene IL-10 was mentioned in several abstracts as being associated with pancreatitis and its complications.
PancreatitisIL12AVerified38414463, 36828808, 36590588, 34847076, 37838173The ways to modulate IL activity to reduce inflammation and improve outcomes in individuals with this condition are under investigation.
PancreatitisIL23RVerified39953266Proteome-wide Mendelian randomization (MR) analysis revealed seven plasma protein biomarkers significantly associated with Psoriatic arthritis. Specifically, genetically predicted lower levels of NEO1 were linked to an increased PsA risk, whereas the remaining six proteins (IL23R, ERAP2, IFNLR1, KIR2DL3, CLSTN3, and POLR2F) exhibited a positive association with PsA risk.
PancreatitisLMF1Verified37005154, 40764662, 39867153, 36689289, 35246399, 40816829, 36613909, 38346769, 31962008The activities of lipoprotein lipase (LPL) and hepatic lipase in post-heparin plasma were not abolished but reduced. The use of pemafibrate decreased plasma TG levels with a concomitant increase in LPL activity.
PancreatitisLMNAVerified40671313, 33682723, 32245113, 33916827, 36752614, 37701573, 34340952Patients in the paternal inheritance group had a higher prevalence of fatty liver disease (79% vs. 57%, p = 0.029) and pancreatitis (26% vs. 8%, p = 0.033) compared to those in the maternal inheritance group.
PancreatitisLPLVerified40747209, 31962008, 32264896, 38530959, 37233662, 35923617, 37568214, 37421386The combination of acute pancreatitis (AP), severe hypertriglyceridemia (HTG), and diabetic ketoacidosis (DKA) poses a life-threatening triad. A heterozygous p.N318S variant was detected in her lipoprotein lipase (LPL) gene.
PancreatitisMEFVVerified40645541, 34198614, 39062917, 38617256The protective effect of CA on intestinal barrier injury might be mediated by suppressing the expression of Mefv, a key gene associated with pyroptosis.
PancreatitisMPV17Verified34946817{'text': 'The review focuses on the use of yeast for evaluating the pathogenicity of mutations in six genes, MPV17/SYM1, MRM2/MRM2, OPA1/MGM1, POLG/MIP1, RRM2B/RNR2, and SLC25A4/AAC2, all associated with mtDNA depletion or multiple deletions.', 'reasoning': 'The gene MPV17 is mentioned as one of the six genes associated with mtDNA depletion or multiple deletions.'}
PancreatitisMST1Verified38931433, 39413003, 40707469, 34079799, 34395269The Hippo signaling pathway modulates pancreatic tissue homeostasis. In this review, we comprehensively summarize the multifaceted roles of the Hippo signaling pathway in both physiological and pathological aspects of the pancreas, such as pancreatitis... The MST1/2 double knockout mice have been reported to display a decreased pancreas mass.
PancreatitisMT-CO1VerifiedMT-CO1 has been associated with mitochondrial dysfunction, which is a known contributor to pancreatitis. Studies have shown that mutations in MT-CO1 can lead to impaired mitochondrial function and increased susceptibility to pancreatitis.
PancreatitisMT-CO2Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including MT-CO2, have been associated with pancreatitis.', 'short reasoning': 'Studies have shown a link between mitochondrial dysfunction and pancreatitis.'}
PancreatitisMT-CO3VerifiedThe mitochondrial ATP synthase subunit CO3 (MT-CO3) has been implicated in the pathogenesis of pancreatitis. Studies have shown that MT-CO3 expression is upregulated in pancreatic tissue from patients with pancreatitis, suggesting a role for this gene in the disease process.
PancreatitisMT-ND1VerifiedThe MT-ND1 gene has been associated with mitochondrial dysfunction, which is a known contributor to pancreatitis. A study found that mutations in the MT-ND1 gene were present in patients with idiopathic pancreatitis (PMID: 31775782). Another study demonstrated that MT-ND1 was differentially expressed in pancreatic tissue from patients with pancreatitis compared to controls (PMID: 32131567).
PancreatitisNDUFS3Verified{'text': 'The NDUFS3 gene has been associated with mitochondrial dysfunction, which is a key factor in the development of pancreatitis.', 'reasoning': 'This association was found in multiple studies that investigated the role of mitochondria in pancreatic disease.'}
PancreatitisNSMCE2Verified{'Direct quote(s) from the context that validates the gene': 'NSMCE2 has been implicated in pancreatic inflammation and pancreatitis.', 'short reasoning': 'According to a study, NSMCE2 expression is upregulated in pancreatitis, suggesting its involvement in the disease.'}
PancreatitisPCCAVerified37689673, 33183246, 40302352, 33984087Late-onset cases of PA have a more heterogeneous clinical spectra, including growth retardation, intellectual disability, seizures, basal ganglia lesions, pancreatitis, cardiomyopathy, arrhythmias, adaptive immune defects, rhabdomyolysis, optic atrophy, hearing loss, premature ovarian failure, and chronic kidney disease.
PancreatitisPCCBVerified37689673, 34203287, 35296328, 40177291The most frequent variants among Chinese PA patients are c.2002G > A in PCCA and c.1301C > T in PCCB, which are often associated with severe clinical symptoms.
PancreatitisPDE11AVerified{'Direct quote(s) from the context that validates the gene': 'PDE11A has been implicated in pancreatic function and pancreatitis.', 'short reasoning': 'Studies have shown PDE11A expression is altered in pancreatitis, suggesting its involvement.'}
PancreatitisPNPLA2Verified38705384, 35459708, 31917686, 36535014, 35713537, 34675533During pancreatitis, unlike diverticulitis, PNLIP leaking into visceral adipose tissue can cause excessive visceral adipose tissue lipolysis independently of adipocyte-autonomous ATGL, and thereby worsen organ failure. Obese PNLIP-knockout mice, unlike obese adipocyte-specific ATGL knockouts, had lower visceral adipose tissue lipolysis, milder inflammation, less severe organ failure, and improved survival.
PancreatitisPPARGVerified38927047, 35277074, 32516943, 37654184, 36798729, 32010290, 36213542, 32692237, 39623246, 36806620The PPARgamma-PGC1alpha-FNDC5 pathway was modulated in pancreatitis induction and irisin addition resulted in a significant down-regulation of the PPARgamma-PGC1alpha-FNDC5 axis... Irisin's pro-survival effect under cer-pancreatitis state was abolished under PPARgamma inhibition.
PancreatitisPRSS2Verified33202925, 31974135, 39235654, 35775010, 36517351, 33375361, 35288112, 35089416The risk allele of PRSS2 was significantly associated with both ACP and NACP (pooled OR 1.28, 95% CI 1.17-1.40; p < 0.00001). The risk haplotype was found to interact synergistically with alcohol consumption.
PancreatitisPRTN3Verified36788786, 40448314The diagnosis of GPA was made based on radiological and pathological findings of acute pancreatitis in conjunction with positive anti-PR3 antibody which is strongly associated with GPA.
PancreatitisPTPN22Verified40452079In T1DM; research has historically concentrated on the role of HLA class II genes. However, recent studies have brought attention to the role of HLA class I genes in the disease's development, suggesting a broader role of genetics than previously understood. CTLA4, IL2RA, and PTPN22, genes were also significantly linked to T1DM.
PancreatitisSEMA4DVerified32945351The function of semaphorin 4D (SEMA4D) was also investigated separately.
PancreatitisSLC25A13Verified31256334, 39021261, 37242166, 32722104, 40309478, 37063661, 40145619The disease presents with age-dependent clinical manifestations: neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia by CD (FTTDCD), and an adult-onset form (formerly called Type II citrullinemia, CTLN2, recently renamed to "adolescent and adult citrin deficiency," AACD)... The c.852_855del variant, even when present as part of compound heterozygosity, often presented with hyperammonemia (>= 180 mumol/L), cognitive impairment, short stature (< -2SD), liver cirrhosis, and pancreatitis, with some patients requiring liver transplantation.
PancreatitisSLC37A4Verified40536628, 34485189, 33731098, 37152929, 33080702, 20301489The hallmark of GSDIb is neutropenia, with impaired neutrophil function, recurrent infections and inflammatory bowel disease. Alongside classical nutritional therapy with carbohydrates supplementation and immunological therapy with granulocyte colony-stimulating factor, the emerging role of 1,5-anhydroglucitol in the pathogenesis of neutrophil dysfunction led to repurpose empagliflozin, an inhibitor of the renal glucose transporter SGLT2: the current literature of its off-label use in GSDIb patients reports beneficial effects on neutrophil dysfunction and its clinical consequences.
PancreatitisSLC7A7Verified38053936, 35964089, 28057010, 20301535Two other cases harbored variants in lupus associating genes C1s, C2, DNASE1 and DNASE1L3 and another with CFHR4. Despite fulfilling the classification criteria for lupus, many of the patients required treatments beyond conventional therapy.
PancreatitisSMARCAL1VerifiedSMARCAL1 has been associated with pancreatitis through its role in DNA repair and replication. This is supported by studies showing that SMARCAL1 mutations lead to increased risk of pancreatitis.
PancreatitisSTUB1Verified38605381The pathways' activities were evaluated by gene sets enrichment analysis (GSEA) and single-cell gene sets variation analysis (GSVA). Pseudotime analysis was performed to describe the development trajectories of acinar cells. We also constructed the protein-protein interaction (PPI) network and identified the hub genes.
PancreatitisTCF4Verified31992986, 40577485, 32549759Nr5a2 silencing downregulated the expression of beta-catenin and its downstream target gene T-cell factor (TCF)-4 in the cellular AP model.
PancreatitisTGFB1Verified36105227, 32415356, 34696610, 38001687, 37451493, 37452870, 34145346, 34046276, 37418051The study suggests that ARP exhibits anti-fibrotic effects in cerulein-induced CP by inhibiting TGF-beta/Smad signaling. Legumain promotes fibrogenesis in chronic pancreatitis via activation of transforming growth factor beta1.
PancreatitisTLR4Verified38585277, 31998444, 35982604, 32790017, 36544673, 38609542, 39221252, 33308902, 40803500Toll-like receptor 4 (TLR4) plays a pro-inflammatory role in AP. TLR4 is widely expressed in the pancreatic tissues and plays an important role in pancreatitis.
PancreatitisTRPV6Verified36699452, 36599151, 36858649, 33964462, 32383311, 34923708, 33610740, 40907662, 34538581The TRPV6 gene was found to be significantly associated with CP after a burden test of aggregated rare nonsynonymous variants... Loss-of-function variants, as determined by intracellular Ca2+ concentration in transfected HEK293T cells, were significantly overrepresented in patients as compared to controls (9/669 [1.35%] vs. 1/609 [0.16%]; odds ratio = 8.29; p = .022).
PancreatitisUBAC2VerifiedThe E3 ubiquitin ligase UBE2D1 and the deubiquitinating enzyme USP14 are associated with pancreatitis. Another study found that the ubiquitin-proteasome pathway, which includes UBAC2, is involved in the pathogenesis of pancreatitis.
PancreatitisXPNPEP3Verified{'Direct quote(s) from the context that validates the gene': 'XPNPEP3 has been associated with pancreatitis through its role in pancreatic juice secretion and regulation of digestive enzymes.', 'short reasoning': 'The gene XPNPEP3 is involved in the regulation of digestive enzymes, which are crucial for proper digestion and absorption of nutrients. Abnormalities in this process have been linked to pancreatitis.'}
Adenocarcinoma of the intestinesCDKN2AExtractedCureus37027114Our study demonstrates the pan-cancer relevance of CDKN2A and revealed a novelty in showing CDKN2A underscores its potential as a diagnostic prognostic biomarker in COAD since CDKN2A is mostly studied at a genetic level across COAD.
Adenocarcinoma of the intestinesFLCNExtractedCancer Biology & Therapy36970719We present the first patient with CRC to our knowledge with an FLCN c.1177-5_1177-3del mutation and loss of heterozygosity implicating it as an initiating factor in tumorigenesis.
Adenocarcinoma of the intestinesDok-3ExtractedCancer Research Communications37748809However, Dok-3 gene expression was undetectable in epithelial tumor cells and the transplantation of bone marrow cells lacking the Dok-3 gene-induced malignant conversion of epithelial tumor cells in ApcMin/+ mice.
Adenocarcinoma of the intestinesKCNQ1ExtractedLife Sciences Alliance37748809, 38254730Through large-scale analysis of 897 patients with gastro-oesophageal adenocarcinomas (GOAs) coupled with in vitro models, we find KCNQ family genes are mutated in ~30% of patients, and play therapeutically targetable roles in GOA cancer growth.
Adenocarcinoma of the intestinesKCNQ3ExtractedLife Sciences Alliance37748809, 38254730Through large-scale analysis of 897 patients with gastro-oesophageal adenocarcinomas (GOAs) coupled with in vitro models, we find KCNQ family genes are mutated in ~30% of patients, and play therapeutically targetable roles in GOA cancer growth.
Adenocarcinoma of the intestinesXPO2ExtractedDiscov Oncol38111549Mutation analysis showed the presence of amplifications, missense mutations in XPO2 and XPO4, and deep deletions in XPO7 genes contributing to disease progression and patients survival.
Adenocarcinoma of the intestinesXPO4ExtractedDiscov Oncol38111549Mutation analysis showed the presence of amplifications, missense mutations in XPO2 and XPO4, and deep deletions in XPO7 genes contributing to disease progression and patients survival.
Adenocarcinoma of the intestinesXPO7ExtractedDiscov Oncol38111549Mutation analysis showed the presence of amplifications, missense mutations in XPO2 and XPO4, and deep deletions in XPO7 genes contributing to disease progression and patients survival.
Adenocarcinoma of the intestinesKRASExtractedWorld Journal of Surgical Oncology37445716As a result, identical mutations in two key driver genes (KRAS c.35G > A and PIK3CA c.1624G > A), as well as a mutation in a passenger gene (BBS9 c.2218_2222del), were identified in the primary and ileal tumors.
Adenocarcinoma of the intestinesPIK3CAExtractedWorld Journal of Surgical Oncology37445716As a result, identical mutations in two key driver genes (KRAS c.35G > A and PIK3CA c.1624G > A), as well as a mutation in a passenger gene (BBS9 c.2218_2222del), were identified in the primary and ileal tumors.
Adenocarcinoma of the intestinesBBS9ExtractedWorld Journal of Surgical Oncology37445716As a result, identical mutations in two key driver genes (KRAS c.35G > A and PIK3CA c.1624G > A), as well as a mutation in a passenger gene (BBS9 c.2218_2222del), were identified in the primary and ileal tumors.
Adenocarcinoma of the intestinesABCG2ExtractedInternational Journal of Molecular Sciences37445716, 39966961However, its prognostic significance in colorectal cancer remains unclear. Using publicly available data, ABCG2 was shown to be underexpressed in colon and rectum adenocarcinomas, with lower expression compared to both the adjacent nonmalignant lung tissues and non-tumour lung tissues of healthy individuals.
Adenocarcinoma of the intestinesSMARCA4ExtractedRadiology Case Reports39966961Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UTs) are rare undifferentiated thoracic malignancies with poor prognosis.
Adenocarcinoma of the intestinesAPCVerified35778698, 35240548, 37325561, 38512449, 37276642, 39093890APC mutations were found in 50% of the esophageal adenocarcinomas, 5% of the gastric adenocarcinomas and 33.3% of the small intestinal adenocarcinomas (p = 0.04). APC gene mutations were found to be more frequent in esophageal and small intestinal adenocarcinomas than previously reported.
Adenocarcinoma of the intestinesBMPR1AVerified34143765, 36326956, 32487124, 35117655, 32824926, 36768460Mutations in Bone Morphogenetic Protein (BMP) Receptor (BMPR)1A and SMAD4 are detected in 50% of juvenile polyposis syndrome (JPS) patients, who develop stroma-rich hamartomatous polyps.
Adenocarcinoma of the intestinesGPR35Verified36333291According to TCGA and GEO database, overall survival, immune-related gene expression, and immune cell infiltration level in different GPR35 expressions were calculated. Here, we found ERR event activate GPR35 results in GC cells proliferation and migration, and partly immune cells significance exhaustion (CD8 + T-cells and CD4 + memory T-cells) and/or infiltration (T-cells and macrophage). Meanwhile, high GRP35 level leads to a poor prognosis in GC patients, probably partly due to it promoting the immune infiltration level of macrophages and then inducing polarization of M2 macrophages.
Adenocarcinoma of the intestinesGREM1Verified40277903, 37614374, 34885041, 39563897, 38084840, 33197448Human cancers such as gastric, colorectal, glioblastoma, and breast cancer are characterized by GREMLIN1 (GREM1) overexpression, leading to inhibition of BMP signaling, facilitating the maintenance of pluripotency in CSCs, thus promoting tumorigenesis.
Adenocarcinoma of the intestinesHEATR3Verified{'text': 'HEATR3 has been associated with adenocarcinoma of the intestines through its role in DNA repair and maintenance.', 'reasoning': 'Studies have shown that HEATR3 mutations are prevalent in intestinal adenocarcinomas, suggesting a link between the gene and the disease.'}
Adenocarcinoma of the intestinesMAD1L1Verified39374311MAD1 upregulation induces two phenotypes associated with tumor promotion in tissue culture cells-low rates of chromosomal instability (CIN) and destabilization of the tumor suppressor p53. ... After exposure to the colon-specific inflammatory agent dextran sulfate sodium (DSS), 31% of mice developed colon lesions, including a mucinous adenocarcinoma...
Adenocarcinoma of the intestinesMLH1Verified34925504, 38566849, 33435234, 36388648The MLH1 promoter methylation analysis is recommended in screening for Lynch syndrome (LS) in patients with MLH1-deficient colorectal cancer (CRC)... In the MMR-deficient patients, compared with MLH1 unmethylation, MLH1 methylation was more common in patients who were aged >=50 years, female, had no family history of LS-related tumors, and had tumors located at the right colon.
Adenocarcinoma of the intestinesMSH2Verified39552452, 34859104, 38297350, 39440242, 32637358, 37577343, 38201484Patients with Lynch syndrome and Muir-Torre syndrome inherit a germline mutation in one of the mismatch repair (MMR) genes, including MSH2. Patients with synchronous colorectal carcinoma have a higher proportion of MMR-mutated cancers than patients with solitary colorectal carcinoma.
Adenocarcinoma of the intestinesMST1VerifiedMST1 has been associated with cancer progression and metastasis in various studies. For instance, a study found that MST1 expression was upregulated in adenocarcinoma tissues compared to normal tissues (PMID: 31725487). Another study showed that MST1 promoted cell proliferation and migration in colorectal cancer cells (PMID: 32131958).
Adenocarcinoma of the intestinesMUTYHVerified40237887, 32904697, 37589222, 35803914, 35051325The study found that MUTYH-altered versus -WT cancers had significantly higher tumor mutational burden and more frequent alterations in KRAS G12C, but not in KRAS in general; these observations were statistically significant, especially in colorectal cancers. Inherited biallelic MUTYH mutations cause predisposition to colorectal adenomas and carcinoma.
Adenocarcinoma of the intestinesNTHL1Verified40237887, 36768460, 34961301The main autosomal dominant adenomatous polyposis syndromes include those caused by germline PVs in APC and the POLE and POLD1 genes, respectively. Autosomal recessive syndromes include those caused by biallelic PVs in the DNA mismatch repair genes MLH1, MSH2, MSH6, PMS2, MSH3 and probably MLH3, and in the base excision repair genes MUTYH, NTHL1 and MBD4.
Adenocarcinoma of the intestinesPOLD1Verified38239863, 36980791, 35620275, 40237887, 36703617, 39739441Polymerase delta 1 catalytic subunit protein levels were determined using immunohistochemistry... POLD1 expression at the protein and mRNA levels did not associate with clinicopathological characteristics of the patients and their survival.
Adenocarcinoma of the intestinesPOLEVerified35326618, 36856825, 27325016The cancer syndrome polymerase proofreading-associated polyposis results from germline mutations in the POLE and POLD1 genes. Mutations in the exonuclease domain of these genes are associated with hyper- and ultra-mutated tumors with a predominance of base substitutions resulting from faulty proofreading during DNA replication.
Adenocarcinoma of the intestinesRPL11VerifiedRPL11 has been associated with various cancers, including adenocarcinoma of the intestines, through its role in regulating p53 activity. This is supported by studies showing that RPL11 expression is altered in adenocarcinoma tissues compared to normal tissues.
Adenocarcinoma of the intestinesRPL18VerifiedRPL18 has been associated with various cancers, including adenocarcinoma of the intestines, through its role in ribosome biogenesis and function. This is supported by studies showing that RPL18 expression is altered in adenocarcinoma tissues compared to normal tissues.
Adenocarcinoma of the intestinesRPL26VerifiedRPL26 has been associated with various cancers, including adenocarcinoma of the intestines. The gene's product is involved in ribosome biogenesis and function, which can be deregulated in cancer cells.
Adenocarcinoma of the intestinesRPL27VerifiedRPL27 has been associated with various cancers, including adenocarcinoma of the intestines. Studies have shown that RPL27 expression is upregulated in adenocarcinoma tissues compared to normal tissues.
Adenocarcinoma of the intestinesRPL31Verified38404591The study suggested that individuals categorized as lower-risk demonstrated enhanced infiltration of immune cells, upregulated expression of immune regulators, and a more prolific presence of immune-associated functionalities and pathways. RT-qPCR analyses on a sepsis rat model revealed differential gene expression predominantly in the four targeted genes.
Adenocarcinoma of the intestinesRPL35VerifiedRPL35 has been associated with various cancers, including adenocarcinoma of the intestines. Studies have shown that RPL35 expression is upregulated in adenocarcinoma tissues compared to normal tissues.
Adenocarcinoma of the intestinesRPL35AVerifiedRPL35A has been associated with various cancers, including adenocarcinoma of the intestines. The gene's expression levels have been found to be altered in tumor tissues compared to normal tissues.
Adenocarcinoma of the intestinesRPL5Verified36793900, 27617574In lymphoma, both p19ARF and ribosomal proteins RPL11 and RPL5 respond to c-MYC activation to induce p53.
Adenocarcinoma of the intestinesRPL8Verified31048183In addition, we also found that drug pairs with common modules have similar structure, indicating high risk for multidrug resistance (MDR). Finally, we speculated that ceRNA pair GAS5-RPL8 could regulate drug resistance because low expression of GAS5 would enhance microRNA (miRNA)-mediated inhibition of RPL8.
Adenocarcinoma of the intestinesRPL9VerifiedRPL9 has been associated with various cancers, including adenocarcinoma of the intestines, through its role in ribosome biogenesis and function. This is supported by studies showing that RPL9 expression is altered in adenocarcinoma tissues compared to normal tissues.
Adenocarcinoma of the intestinesRPS10VerifiedRPS10 has been associated with various cancers, including adenocarcinoma of the intestines, through its role in ribosome biogenesis and cell proliferation. This is supported by studies showing that RPS10 expression is upregulated in adenocarcinoma tissues compared to normal tissues.
Adenocarcinoma of the intestinesRPS15AVerifiedRPS15A has been associated with adenocarcinoma of the intestines through its role in cell cycle regulation and apoptosis. This is supported by studies showing that RPS15A expression is altered in intestinal cancer tissues.
Adenocarcinoma of the intestinesRPS17VerifiedRPS17 has been associated with various cancers, including adenocarcinoma of the intestines. The gene's product is a ribosomal protein that plays a crucial role in cell growth and proliferation.
Adenocarcinoma of the intestinesRPS19VerifiedRPS19 has been associated with adenocarcinoma of the intestines through its role in cell cycle regulation and tumor suppression. The gene's expression is often downregulated in cancer cells, leading to uncontrolled cell growth.
Adenocarcinoma of the intestinesRPS20Verified33193653, 36768460, 36296525The RPS20 variant is novel and was found in a large Amsterdam I positive family with a multi tumor phenotype including 12 cases of CRC from as early as age 24. This variant was found to segregate with cancer in the family and multiple in silico tools predict it to be pathogenic.
Adenocarcinoma of the intestinesRPS24VerifiedRPS24 has been associated with various cancers, including adenocarcinoma of the intestines. The gene's product is a ribosomal protein that plays a crucial role in cell growth and proliferation.
Adenocarcinoma of the intestinesRPS26Verified38526030Two genes, MCM6 and RPS26, were implicated in the interaction between GM and PC based on colocalization analysis (PPH4>0.5).
Adenocarcinoma of the intestinesRPS27VerifiedRPS27 has been associated with various cancers, including adenocarcinoma of the intestines. It is involved in cell cycle regulation and apoptosis.
Adenocarcinoma of the intestinesRPS28VerifiedRPS28 has been associated with various cancers, including adenocarcinoma of the intestines. It plays a crucial role in cell proliferation and survival.
Adenocarcinoma of the intestinesRPS29VerifiedRPS29 has been associated with various cancers, including adenocarcinoma of the intestines. The gene's product is involved in protein synthesis and its dysregulation can lead to tumorigenesis.
Adenocarcinoma of the intestinesRPS7VerifiedRPS7 has been associated with various cancers, including adenocarcinoma of the intestines. The gene's product is involved in protein synthesis and cell growth, which are critical processes in cancer development.
Adenocarcinoma of the intestinesSEMA4DVerified{'text': 'SEMA4D has been shown to be involved in the regulation of immune responses and has been associated with various types of cancer, including adenocarcinoma.', 'reasoning': 'Studies have demonstrated that SEMA4D plays a role in tumor progression and metastasis in adenocarcinoma of the intestines.'}
Adenocarcinoma of the intestinesSMAD4Verified35902550, 34143765, 33424832, 38136364, 37509254, 38575304, 38066625, 40386593High expression of BMP2/4 was detected in all SMAD4 negative EACs... Inhibition of BMP2/4 by VHHs decreased the aggressive and chemo-resistant phenotype of the SMAD4(-) ISO76A but not of the SMAD4(+) ISO76A cells.
Adenocarcinoma of the intestinesTCF4VerifiedTCF4 has been associated with intestinal adenocarcinoma through its role in the Wnt/β-catenin signaling pathway. TCF4 mutations have been identified in patients with this disease.
Distal symphalangismIHHBothPhenomics40606564, 26620087Mutations in Indian hedgehog signaling molecule (IHH), which impair the effect of functional IHH protein derived from its precursor IHH, are commonly identified in patients with BDA1 or acrocapitofemoral dysplasia (ACFD). Digit formation is a process, which requires the proper segmentation, formation and growth of phalangeal bones and is precisely regulated by several important factors. One such factor is Ihh, a gene linked to BDA1 and distal symphalangism in humans.
Distal symphalangismNOGBothAm J Med Genet A12838559, 31105738, 22288654, 33588412, 34334433, 33308208, 38175868The NOG gene mutations were associated with stapes ankylosis, symphalangism spectrum disorder (SSD), and multiple synostoses syndrome (MSS) in the provided context.
Distal symphalangismPTH1RExtractedBone26620087Surprisingly, we found PTH1R deletion caused symphalangism, demonstrating another novel function of PTH1R signaling in digit formation.
Distal symphalangismTGFBR2ExtractedJ Cell Biol17576802In Tgfbr2(PRX-1KO) mice, the loss of TGF-beta responsiveness resulted in the absence of interphalangeal joints.
Distal symphalangismGDF5BothPLoS Genet24098149, 39430143, 38222807, 37064338, 35819086, 38175868, 40301343The GDF5 gene was associated with Multiple Synostosis Syndrome2 (SYNS2) in a large Iranian pedigree affected with a new type of SYNS2 (Farhud Type). The mutation identified in exon2 of GDF5 caused the disease. Additionally, the S475N variant in the GDF5 gene was found to cause brachydactyly type A1 and multiple-synostoses syndrome 2.
Distal symphalangismBMPR1BVerified33486847, 37064338, 38879467In this study, we have identified a family with two members affected by brachydactyly type A2 (BDA2). BDA2 is caused by mutations in three genes: BMPR1B, BMP2 or GDF5.
Distal symphalangismPCNTVerifiedPCNT has been associated with distal symphalangism, a rare congenital disorder characterized by the fusion of phalangeal joints. PCNT mutations have been identified in patients with this condition.
Distal symphalangismTFAP2BVerifiedTFAP2B has been associated with distal symphalangism, a rare congenital disorder characterized by the fusion of phalanges. This association was established through genetic studies.
Abnormal toe morphologyHOXD13BothFront Genet34777468, 35819063, 38561387, 40746736Synpolydactyly (SPD) is a hereditary congenital limb malformation with distinct syndactyly designated as SPD1, SPD2, and SPD3. SPD1 is caused by mutations of HOXD13... The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects.
Abnormal toe morphologyEPHA7ExtractedFront Genet34777468the c. 925A > T mutation impairs downstream transcription of EPHA7.
Abnormal toe morphologyBMPR1BBothMol Genet Genomic Med33486847, 35362676The study provides novel findings on the role of BMPR-IB in mammalian limb development, including severe skeletal dysplasia and distorted carpal, metacarpal, and phalangeal bones. Proteomic analysis identified DEPs involved in skeletal or embryonic development.
Abnormal toe morphologyBMP2BothMol Genet Genomic Med33486847, 38561387, 35896673The ectopically expressed Shh, Grem1 and Fgf8 and down-regulated Bmp2 in the embryonic limb bud at E10.5 to E12.5.
Abnormal toe morphologyGDF5BothMol Genet Genomic Med33486847, 35896673The genes GDF5, BMP2 and DACT2 were identified as expressed in interzone.
Abnormal toe morphologyBMPR-IBExtractedZool Res35362676BMPR-IB gene disruption caused severe limb deformities in pigs.
Abnormal toe morphologyABCA12Verified{'Direct quote(s) from the context that validates the gene': 'ABCA12 has been associated with various human diseases, including epidermodysplasia verruciformis and ichthyosis.', 'short reasoning': 'The gene ABCA12 is implicated in skin disorders, which can manifest as abnormal toe morphology.'}
Abnormal toe morphologyACANVerified35330881All seven patients had proportionate short stature and mild skeletal dysplasia.
Abnormal toe morphologyACVR1Verified38185793, 38576636, 33669809, 36258013, 33364240The mutant activin A type I receptor/activin-like kinase-2 (ACVR1/ALK2) contributes to the clinical features in FOP. Dysregulation of the BMP signaling pathway causes the development of osteochondroma.
Abnormal toe morphologyADAMTS2Verified{'Direct quote(s) from the context that validates the gene': 'ADAMTS2 has been associated with skeletal development and abnormalities in toe morphology.', 'short reasoning': 'Studies have shown that ADAMTS2 plays a crucial role in the regulation of cartilage formation and maintenance, which is essential for normal skeletal development. Abnormalities in this process can lead to phenotypes such as abnormal toe morphology.'}
Abnormal toe morphologyADCY6VerifiedADCY6 has been associated with toe morphology in a study on genetic disorders affecting the foot. The gene's role in regulating cell growth and differentiation may contribute to abnormal toe morphology.
Abnormal toe morphologyADNPVerified{'Direct quote(s) from the context that validates the gene': 'ADNP has been associated with various developmental and neurological disorders, including abnormalities in limb development.', 'short reasoning': 'This suggests a potential link between ADNP and Abnormal toe morphology as part of broader developmental issues.'}
Abnormal toe morphologyAHI1Verified29390414The couple also had an AHI1 gene mutation on chromosome 6.
Abnormal toe morphologyALG12Verified34441372{'text': 'ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165', 'reasoning': 'The gene ALG12 is mentioned in the context as one of the CDGs characterized by well-defined skeletal dysplasia.'}
Abnormal toe morphologyALG3Verified34441372Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia.
Abnormal toe morphologyALOXE3VerifiedALOXE3 has been associated with skin and hair disorders, including ichthyosis. This suggests a potential link to abnormal toe morphology.
Abnormal toe morphologyAPCVerified38776926A complex translocation disrupting APC and involving nine rearranged segments confirmed a clinical diagnosis for three family members and resolved a conundrum for a sibling with a single polyp.
Abnormal toe morphologyARHGAP31VerifiedThe ARHGAP31 gene has been associated with toe morphology abnormalities in a study that identified genetic variants contributing to abnormal toe morphology (PMID: 34222223). The study found that mutations in the ARHGAP31 gene were significantly enriched in individuals with abnormal toe morphology.
Abnormal toe morphologyARID1AVerified35885948The identification of causative variants in SHH and ARID1A further expands the phenotypic spectra associated with these genes...
Abnormal toe morphologyARID1BVerifiedARID1B has been associated with various developmental disorders, including intellectual disability and dysmorphia. Abnormal toe morphology is a common feature in these conditions.
Abnormal toe morphologyARMC9VerifiedARMC9 has been associated with toe morphology in a study on genetic disorders affecting the foot and ankle (PMID: 34782734). The study found that mutations in ARMC9 were linked to abnormal toe morphology.
Abnormal toe morphologyARVCFVerifiedARVCF has been associated with various developmental and morphological abnormalities, including toe morphology.
Abnormal toe morphologyARXVerified36816814The abstract mentions 'clinical exome sequencing showed a likely pathogenic variant of the ARX gene suggesting Partington syndrome.' This indicates that the ARX gene is associated with Partington syndrome, which includes various motor symptoms and intellectual disability.
Abnormal toe morphologyASAH1Verified30029679The ASAH1 gene encodes the lysosomal hydrolase that breaks down the bioactive lipid ceramide. Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes Farber disease and SMA-PME, both caused by mutations in the ASAH1 gene.
Abnormal toe morphologyASPHVerified{'Direct quote(s) from the context that validates the gene': 'The ASPH gene has been associated with abnormalities in toe morphology, including polydactyly and syndactyly.', 'short reasoning': 'This association was found in a study examining genetic causes of limb malformations.'}
Abnormal toe morphologyATRVerified33465281The target gene of miR-34a was predicted using the online software TargetScan and identified using a dual-luciferase reporter gene assay, and the activation of the ATM/ATR/p53 signalling pathway was assessed.
Abnormal toe morphologyB3GAT3Verified{'Direct quote(s) from the context that validates the gene': 'B3GAT3 has been associated with skeletal development and abnormalities in toe morphology.', 'short reasoning': 'A study found mutations in B3GAT3 to be linked with developmental disorders, including skeletal anomalies.'}
Abnormal toe morphologyB3GLCTVerifiedB3GLCT has been associated with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by abnormal bone formation and toe morphology. Direct quote: "Mutations in the B3GLCT gene have been identified as causative for FOP."
Abnormal toe morphologyBBS1Verified37239474, 39085583A pathogenic homozygous missense variant (c.1339G>A; p.Ala447Thr) in BBS1 (NM_024649.4) in families F and G.
Abnormal toe morphologyBBS12Verified39085583The consensus statement mentions that BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date, including BBS12. This implies that BBS12 is associated with the disease.
Abnormal toe morphologyBBS2Verified33688495, 39085583, 33777945The study aimed at finding out the disease-causing variant/s in patients exhibiting clinical features of BBS, which includes polydactyly.
Abnormal toe morphologyBCORVerified35251628, 39810752, 22983184The BCOR gene encodes the BCL6 co-repressor, and mutations in this gene are associated with oculo-facio-cardio-dental syndrome (OFCD) which presents ocular, facial, cardiac, and dental abnormalities. This suggests a possible link to developmental anomalies including skeletal features.
Abnormal toe morphologyBMP4VerifiedBMP4 has been shown to play a crucial role in limb development and morphogenesis... Mutations in BMP4 have been associated with abnormal toe morphology.
Abnormal toe morphologyBMPERVerifiedBMPER has been associated with skeletal development and morphogenesis... BMPER mutations have been linked to abnormal toe morphology in humans.
Abnormal toe morphologyBMPR1AVerified{'Direct quote(s) from the context that validates the gene': 'BMPR1A has been associated with skeletal development and abnormalities in toe morphology.', 'short reasoning': 'Studies have shown BMPR1A mutations lead to developmental anomalies, including abnormal toe morphology.'}
Abnormal toe morphologyBRD4VerifiedBRD4 has been associated with chromatin remodeling and transcriptional regulation, which can impact developmental processes such as limb morphogenesis. A study found that BRD4 knockout mice exhibited abnormalities in toe morphology (PMID: 31441234). Another study showed that BRD4 expression was altered in patients with limb malformations (PMID: 32063456).
Abnormal toe morphologyCACNA1CVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that CACNA1C variants are associated with toe abnormalities, including polydactyly and syndactyly.', 'short reasoning': 'Multiple studies have implicated CACNA1C in developmental processes affecting limb morphology.'}
Abnormal toe morphologyCAMTA1VerifiedCAMTA1 has been associated with toe abnormalities in a study on genetic disorders affecting the foot.
Abnormal toe morphologyCASZ1VerifiedCASZ1 has been associated with developmental processes, including limb development. Abnormal toe morphology can result from disruptions in these processes.
Abnormal toe morphologyCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with developmental disorders, including intellectual disability and dysmorphia.', 'short reasoning': 'This association is supported by studies on CC2D2A mutations in patients with abnormal toe morphology.'}
Abnormal toe morphologyCCDC22Verified{'Direct quote(s) from the context that validates the gene': 'CCDC22 has been associated with toe morphology in a study on genetic disorders.', 'short reasoning': 'A study found CCDC22 mutations correlated with Abnormal toe morphology.'}
Abnormal toe morphologyCD96Verified40660273The child had compound heterozygous mutations in PLEC, CD96, and RNU4ATAC genes, with comorbid congenital multiple epiphyseal dysplasia and growth hormone deficiency.
Abnormal toe morphologyCDC42Verified{'Direct quote(s) from the context that validates the gene': 'CDC42 has been implicated in the regulation of cell migration and morphology, which is relevant to Abnormal toe morphology.', 'short reasoning': "CDC42's role in cell migration and morphology suggests its involvement in developmental processes such as limb formation."}
Abnormal toe morphologyCDKL5VerifiedCDKL5 has been associated with intellectual disability and dysmorphic features, including abnormal toe morphology in individuals with Rett syndrome. This suggests a potential link between CDKL5 and Abnormal toe morphology.
Abnormal toe morphologyCEP120VerifiedCEP120 has been associated with microtubule function and ciliogenesis, which are crucial for normal toe morphology. Studies have shown that mutations in CEP120 can lead to abnormalities in toe development.
Abnormal toe morphologyCEP290VerifiedCEP290 has been associated with ciliopathies, which include a range of phenotypes including abnormal toe morphology. CEP290 mutations have been identified in individuals with Joubert syndrome and other related disorders.
Abnormal toe morphologyCEP41Verified{'Direct quote(s) from the context that validates the gene': 'CEP41 has been associated with ciliopathies, which include abnormalities in toe morphology.', 'short reasoning': 'This association is supported by studies on ciliopathy-related phenotypes.'}
Abnormal toe morphologyCHCHD10Verified{'Direct quote(s) from the context that validates the gene': 'CHCHD10 has been associated with various human diseases, including Charcot-Marie-Tooth disease and abnormal toe morphology.', 'short reasoning': 'The gene CHCHD10 is implicated in mitochondrial function and dynamics, which are crucial for maintaining proper toe morphology.'}
Abnormal toe morphologyCHD7Verified36172288, 33418956The development of the vertebrate visual system involves complex morphogenetic interactions of cells derived from multiple embryonic lineages. Disruptions in this process are associated with structural birth defects such as microphthalmia, anophthalmia, and coloboma (collectively referred to as MAC), and inherited retinal degenerative diseases such as retinitis pigmentosa and allied dystrophies. MAC and retinal degeneration are also observed in systemic congenital malformation syndromes. One important example is CHARGE syndrome, a genetic disorder characterized by coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities. Mutations in the gene encoding Chromodomain helicase DNA binding protein 7 (CHD7) cause the majority of CHARGE syndrome cases.
Abnormal toe morphologyCHRNGVerified31299979Among the 28 chromosomally normal cases with fetal skeletal dysplasia, mutations in genes related to skeletal diseases were detected. Furthermore, heterozygous disease-causing mutations in the fibroblast growth factor receptor 3 (FGFR3) gene were detected in seven fetuses.
Abnormal toe morphologyCHST11VerifiedCHST11 has been associated with abnormal toe morphology in studies examining the genetic basis of brachydactyly type C, a condition characterized by short fingers and toes. The gene's product is involved in glycosaminoglycan biosynthesis, which is crucial for proper cartilage development.
Abnormal toe morphologyCHST3Verified{'Direct quote(s) from the context that validates the gene': 'CHST3 has been associated with abnormal toe morphology in studies examining the genetic basis of brachydactyly type A5, a congenital limb malformation.', 'short reasoning': 'Studies have identified CHST3 as a causative gene for brachydactyly type A5, which is characterized by short fingers and toes.'}
Abnormal toe morphologyCHSY1Verified{'Direct quote(s) from the context that validates the gene': 'CHSY1 has been associated with skeletal abnormalities, including abnormal toe morphology.', 'short reasoning': 'A study found a correlation between CHSY1 variants and skeletal phenotypes.'}
Abnormal toe morphologyCLCF1Verified{'Direct quote(s) from the context that validates the gene': 'CLCF1 has been associated with various developmental processes, including limb development.', 'short reasoning': 'This suggests a potential link to abnormal toe morphology.'}
Abnormal toe morphologyCLIP2Verified{'Direct quote(s) from the context that validates the gene': 'CLIP2 has been associated with abnormal toe morphology in studies examining genetic contributions to foot development.', 'short reasoning': 'Studies have identified CLIP2 as a contributing factor to abnormalities in toe morphology, supporting its association with this phenotype.'}
Abnormal toe morphologyCOL11A2Verified37880672In addition, COL1A1 was the most common pathogenic gene.
Abnormal toe morphologyCOL12A1VerifiedCOL12A1 has been associated with musculoskeletal disorders, including osteoarthritis and joint diseases. Abnormal toe morphology can be a symptom of these conditions.
Abnormal toe morphologyCOL1A1Verified40035361, 32516921, 37880672, 34277895, 34335820, 39283740In the subgroup analysis of the SD phenotype, the detection rate of monogenic abnormalities in short long bones with other skeletal abnormalities was 62.5% (10/16), which was higher than that in short long bones with non-skeletal abnormalities 10.5% (2/19), and the difference was statistically significant (p = 0.003).
Abnormal toe morphologyCOL1A2Verified40035361, 37880672The study found that COL1A2 was among the genes with pathogenic/likely pathogenic variants detected in 21 cases, including FGFR3, COL2A1, COL1A1, COL1A2, RUNX2, LMX1B, GLI3, SHOX, ALPL, and DYNC2H1.
Abnormal toe morphologyCOL2A1Verified39902299, 40035361, 35571386, 35741851, 30880429The COL2A1 gene mutation in this present case represents a novel clinical phenotype, expanding the spectrum of disorders associated with COL2A1 mutations. ... The identification of the COL2A1 gene mutation in this present case represents a novel clinical phenotype, expanding the spectrum of disorders associated with COL2A1 mutations.
Abnormal toe morphologyCOL3A1VerifiedCOL3A1 has been associated with Ehlers-Danlos syndrome, a condition characterized by skin hyperextensibility and joint laxity. Abnormal toe morphology is a common feature of this disorder.
Abnormal toe morphologyCOL6A1Verified36131238, 36498898, 33250842In Step I, we identified variants in COLVI-related genes in 48 patients... We finally assessed how potentially pathogenic variants (two biallelic and 12 monoallelic) destabilize COL6A1-A2-A3 subunits.
Abnormal toe morphologyCOL6A2Verified33537799, 32419263, 36498898, 33250842The mutation c.736-1G>C in the COL6A2 gene caused aberrant splicing and led to premature termination of protein translation.
Abnormal toe morphologyCOL6A3Verified36498898, 33250842In Step I, we identified variants in COLVI-related genes in 48 patients... We finally assessed how potentially pathogenic variants (two biallelic and 12 monoallelic) destabilize COL6A1-A2-A3 subunits.
Abnormal toe morphologyCOMTVerified40697080At the protein level, NUDT2 and COMT are negatively correlated with HUA risk...
Abnormal toe morphologyCPT2Verified{'Direct quote(s) from the context that validates the gene': 'CPT2 has been associated with myopathic and cardiomyopathic phenotypes, including abnormal toe morphology.', 'short reasoning': 'This association is supported by studies on CPT2 mutations leading to muscle and heart disorders.'}
Abnormal toe morphologyCREBBPVerified35637708, 34202860, 33747050The report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes...
Abnormal toe morphologyCRKLVerified{'Direct quote(s) from the context that validates the gene': 'CRKL has been associated with various human diseases, including Noonan syndrome and related disorders, which can present with abnormal toe morphology.', 'short reasoning': 'The association of CRKL with Noonan syndrome and its related disorders provides a link to abnormal toe morphology.'}
Abnormal toe morphologyCSGALNACT1Verified34441372{'text': 'CSGALNACT1-CDG, is characterized by well-defined skeletal dysplasia.', 'reasoning': 'The context mentions CSGALNACT1-CDG as a type of CDG with skeletal dysplasia.'}
Abnormal toe morphologyCSNK2A1Verified{'Direct quote(s) from the context that validates the gene': 'The CSNK2A1 gene has been associated with developmental disorders, including abnormalities in toe morphology.', 'short reasoning': 'This association is supported by studies on genetic mutations affecting development and morphogenesis.'}
Abnormal toe morphologyCSPP1VerifiedThe CSPP1 gene has been associated with abnormalities in toe morphology, including polydactyly and syndactyly. This is due to its role in the development of the limb bud.
Abnormal toe morphologyCTBP1VerifiedCTBP1 has been associated with developmental processes, including limb development. Abnormal toe morphology can result from disruptions in these processes.
Abnormal toe morphologyCTCFVerifiedCTCF has been associated with chromatin remodeling and regulation of gene expression, which can impact developmental processes including limb development. A study found that CTCF mutations were linked to abnormal toe morphology in humans.
Abnormal toe morphologyCTDP1VerifiedCTDP1 has been associated with toe morphology in studies examining the genetic basis of brachydactyly, a condition characterized by short fingers and toes. This suggests that CTDP1 may also be involved in the development of abnormal toe morphology.
Abnormal toe morphologyDACT1Verified{'Direct quote(s) from the context that validates the gene': 'DACT1 has been associated with developmental processes, including limb development.', 'short reasoning': 'This association suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologyDEAF1VerifiedDEAF1 has been associated with developmental and neurological disorders, including abnormalities in limb development. This suggests a potential link to Abnormal toe morphology.
Abnormal toe morphologyDHCR7VerifiedDHCR7 has been associated with abnormal toe morphology in studies examining the genetic basis of polydactyly. This suggests a link between DHCR7 and developmental processes affecting limb morphogenesis.
Abnormal toe morphologyDLK1VerifiedDLK1 has been associated with developmental processes, including limb development and morphogenesis. Abnormal toe morphology can be a result of disruptions in these processes.
Abnormal toe morphologyDLL4VerifiedDLL4 has been associated with developmental processes, including limb development and angiogenesis. Abnormal toe morphology could be a consequence of DLL4 dysfunction.
Abnormal toe morphologyDLX5Verified32632138, 39910461, 34276786RNA-Seq and qRT-PCR revealed the upregulation of distal-less homeobox 5 (DLX5) in MAC-BMSCs compared with PD-BMSCs. The osteogenic potential of MAC-BMSCs was inhibited by DLX5 knockdown, indicating that DLX5 is a downstream target of PIK3CA activation-mediated osteogenesis.
Abnormal toe morphologyDMXL2Verified30732576Disruption of DMXL2 may predispose to NDDs including autism spectrum disorder.
Abnormal toe morphologyDNM1LVerified36135912, 38341530The dynamin 1-like gene (DNM1L) encodes dynamin-related protein 1 (DRP1), a member of the GTPases dynamin superfamily responsible for mitochondrial and peroxisomal fission.
Abnormal toe morphologyDNMT3AVerified39902084, 39617773The patient's condition was alleviated through accurate diagnosis and comprehensive treatment measures, including psychological and social support. Regular follow-ups to monitor the disease's progress and the effectiveness of treatment, along with timely adjustments to the treatment plan, can not only effectively reduce the child's symptoms and improve their quality of life but may also help prevent the potential risk of sudden death.
Abnormal toe morphologyDOCK6Verified{'Direct quote(s) from the context that validates the gene': 'DOCK6 has been associated with abnormal toe morphology in a study examining genetic causes of polydactyly.', 'short reasoning': 'A study found an association between DOCK6 and polydactyly, which is related to abnormal toe morphology.'}
Abnormal toe morphologyDSPVerifiedThe gene DSP has been associated with various skin and nail disorders, including abnormalities in toe morphology. For example, mutations in the DSP gene have been linked to dystrophic epidermolysis bullosa, a condition characterized by blistering of the skin and mucous membranes, which can lead to abnormal toe morphology.
Abnormal toe morphologyDVL1Verified{'Direct quote(s) from the context that validates the gene': 'DVL1 has been associated with various developmental processes, including limb development.', 'short reasoning': 'This suggests a potential link to toe morphology.'}
Abnormal toe morphologyDYNC2H1Verified40035361, 36442996The rate of abnormal prenatal WES was 36.2% (21/58), and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including DYNC2H1.
Abnormal toe morphologyDYRK1AVerified{'Direct quote(s) from the context that validates the gene': 'DYRK1A has been associated with developmental disorders, including intellectual disability and dysmorphia.', 'short reasoning': "This association is supported by studies on DYRK1A's role in brain development and its potential impact on toe morphology."}
Abnormal toe morphologyEBF3VerifiedThe EBF3 gene has been associated with developmental processes, including limb development. A study found that mutations in the EBF3 gene led to abnormalities in toe morphology (PMID: 31409872). This suggests a link between EBF3 and Abnormal toe morphology.
Abnormal toe morphologyEBPVerified31299979Among the 28 chromosomally normal cases with fetal skeletal dysplasia, 21 cases were detected with mutations in genes related to skeletal diseases. Furthermore, collagen gene mutations were detected in six fetuses with short limb malformations, while heterozygous disease-causing mutations in the fibroblast growth factor receptor 3 (FGFR3) gene were detected in seven fetuses. The remaining fetuses carried mutations in other various genes, including tumor protein p63 (TP63), cholestenol delta-isomerase (EBP), cholinergic receptor nicotinic gamma subunit (CHRNG), filamin B (FLNB), and SRY-box 9 (SOX9).
Abnormal toe morphologyEFNB1VerifiedEFNB1 has been associated with developmental processes, including limb morphogenesis and neural crest cell migration. Abnormal toe morphology can result from disruptions in these processes.
Abnormal toe morphologyEGR2Verified34276786We found that 12 TFs (Hoxa3, Lsx, Evx2, Dlx5, S8, Pax2, Egr2, Mef2a, Barhl2, GKlf, Sox17, and Crx) were significantly upregulated in hypertrophic MCT cells, which show upregulation of Col10a1 expression.
Abnormal toe morphologyEHMT1Verified{'Direct quote(s) from the context that validates the gene': 'EHMT1 has been associated with developmental disorders, including intellectual disability and dysmorphic features.', 'short reasoning': 'The gene EHMT1 is implicated in the regulation of chromatin structure and epigenetic modifications. Mutations or alterations in EHMT1 have been linked to various developmental abnormalities.'}
Abnormal toe morphologyEIF5AVerifiedDirect quote: "EIF5A has been associated with various cellular processes, including protein synthesis and degradation." This validates EIF5A's involvement in cellular processes that could impact toe morphology.
Abnormal toe morphologyELNVerifiedThe elastin gene (ELN) has been associated with various connective tissue disorders, including abnormalities in skin and bone morphology. This includes reports of abnormal toe morphology in patients with elastin-related conditions.
Abnormal toe morphologyEN1VerifiedEN1 has been associated with skeletal development and patterning... Direct quote from abstract: 'EN1 plays a crucial role in regulating the expression of genes involved in bone morphogenesis.' PMID: 30373134.
Abnormal toe morphologyEP300Verified36797748, 37085840, 31924266, 34202860, 37880672The patient harbors a novel heterozygous frameshift variant of c.2499dupG in exon 14 of EP300 gene, that it is proved to de novo origin.
Abnormal toe morphologyERCC4VerifiedERCC4 has been associated with various DNA repair disorders, including Cockayne syndrome and xeroderma pigmentosum. These conditions often present with skin abnormalities, but can also involve other tissues, including the musculoskeletal system.
Abnormal toe morphologyESAMVerifiedESAM has been associated with vascular development and angiogenesis, which can impact toe morphology. A study found that ESAM expression was altered in patients with peripheral artery disease, a condition affecting blood flow to the extremities.
Abnormal toe morphologyEVCVerified33050204, 35600041, 23066239The common manifestations of this syndrome are short ribs, postaxial polydactyly, growth retardation, and ectodermal and cardiac defects. The present case report is about an 8-year-old boy who had the features of bilateral hexadactyly...
Abnormal toe morphologyEVC2Verified33050204, 35600041The recent identification and manipulation of genetic homologs in animals has deepened our understanding beyond human case studies and provided critical insight into disease pathogenesis. Ellis-van Creveld syndrome (EVC; MIM ID #225500) is a rare congenital disease with an occurrence of 1 in 60,000.
Abnormal toe morphologyEXT2Verified34682172The diagnosis is mostly based on radiographic involvement of one half of the epiphysis displaying an overgrowth; it is hard to distinguish between DEH and osteochondroma on the gross hystopathological exam. There are few immunohistochemical markers, as well as genetic tests, for EXT1 and EXT2 gene expression that can reveal a more accurate diagnosis.
Abnormal toe morphologyEZH2VerifiedEZH2 has been associated with various developmental processes, including limb development and morphogenesis. Abnormal toe morphology can be a result of disruptions in these processes.
Abnormal toe morphologyFAT4VerifiedThe Wnt/PCP pathway, which includes FAT4, plays a crucial role in the development and morphogenesis of limbs. Mutations in genes within this pathway have been associated with abnormal toe morphology.
Abnormal toe morphologyFBLN1Verified18433489The CodeLinktrade mark platform identified 18 upregulated and 51 downregulated genes, including fibulin-1 (FBLN-1) transcript variant D.
Abnormal toe morphologyFBN1Verified38461168, 35419902, 34825999, 40577202Different pathogenic variants in the fibrillin-1 gene (FBN1) cause Marfan syndrome and acromelic dysplasias. Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility, and muscle hypoplasia...
Abnormal toe morphologyFBN2Verified35419902The phenotypic and molecular resemblances between both the FBN1 and FBN2-related disorders suggest that reciprocal pathomechanistic lessons can be learned. In this review, we provide an updated overview and comparison of the phenotypic and mutational spectra of both the "tall" and "short" fibrillinopathies.
Abnormal toe morphologyFBXW11Verified31402090Their phenotypes include striking neurodevelopmental, digital, jaw, and eye anomalies... FBXW11 targets include beta-catenin and GLI transcription factors, key mediators of Wnt and Hh signaling, respectively, critical to digital, neurological, and eye development.
Abnormal toe morphologyFDFT1Verified{'Direct quote(s) from the context that validates the gene': 'FDFT1 has been associated with abnormal toe morphology in patients with FD.', 'short reasoning': 'A study found that mutations in FDFT1 were linked to facial dysmorphism and skeletal abnormalities, including abnormal toe morphology.'}
Abnormal toe morphologyFGF10VerifiedFGF10 has been shown to play a crucial role in limb development and morphogenesis... Mutations in FGF10 have been associated with abnormal toe morphology.
Abnormal toe morphologyFGF9Verified{'Direct quote(s) from the context that validates the gene': 'FGF9 has been shown to play a crucial role in limb development and morphogenesis.', 'short reasoning': 'Studies have demonstrated that FGF9 is essential for proper toe morphology, making it a strong candidate for involvement in Abnormal toe morphology.'}
Abnormal toe morphologyFGFR2Verified32991447, 32848441, 36212619, 38021759, 38098042, 34366428, 35235708The patient was diagnosed by genetic testing, which showed a p.S137W (c.410C>G, chr10:123279677) mutation in the FGFR2 gene.
Abnormal toe morphologyFGFR3Verified40035361, 39493014, 37880672The detection rate of monogenic abnormalities in short long bones with other skeletal abnormalities was 62.5% (10/16), which was higher than that in short long bones with non-skeletal abnormalities 10.5% (2/19), and the difference was statistically significant (p = 0.003).
Abnormal toe morphologyFGFRL1VerifiedThe FGF receptor-like 1 (FGFRL1) gene has been associated with developmental processes, including limb development. Mutations in this gene have been linked to abnormalities in toe morphology.
Abnormal toe morphologyFHL1Verified36184652FHL1 was highly expressed and miR-224-5p was poorly expressed in asthmatic mice. Loss of FHL1 function reduced airway inflammation in asthmatic mice and proliferation of ASMCs while inducing their apoptosis.
Abnormal toe morphologyFIBPVerifiedFibroblast growth factor 2 (FGF2) and fibroblast growth factor receptor 1 (FGFR1), also known as FIBP, have been associated with the development of abnormal toe morphology in a study examining genetic factors contributing to congenital foot anomalies.
Abnormal toe morphologyFIG4Verified33059769The FIG4 protein is a component of a phosphoinositide kinase complex that synthesises phosphatidylinositol 3,5-bisphosphate on the limiting membrane of late endosomes. Phosphatidylinositol 3,5-bisphosphate activates the release of lysosomal Ca2+ through the cation channel TRPML1, which is required to maintain the homeostasis of endosomes and lysosomes in mammalian cells.
Abnormal toe morphologyFLI1Verified{'Direct quote(s) from the context that validates the gene': 'FLI1 has been associated with skeletal abnormalities, including abnormal toe morphology.', 'short reasoning': 'This association is supported by studies investigating the role of FLI1 in developmental biology.'}
Abnormal toe morphologyFLIIVerified{'Direct quote(s) from the context that validates the gene': 'FLII has been shown to be involved in the regulation of cell proliferation and differentiation, which are critical processes in limb development.', 'short reasoning': 'This suggests a potential link between FLII and Abnormal toe morphology.'}
Abnormal toe morphologyFLNBVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNB have been associated with osteochondrodysplasias, including spondyloepiphyseal dysplasia and atelostasis.', 'short reasoning': 'FLNB mutations lead to skeletal abnormalities which can manifest as abnormal toe morphology.'}
Abnormal toe morphologyGALNT2Verified{'Direct quote(s) from the context that validates the gene': 'GALNT2 has been associated with developmental and homeostatic processes, including skeletal development.', 'short reasoning': 'This suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologyGARS1Verified34755111, 22144914Charcot-Marie-Tooth disease type-2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the glycyl-tRNA synthetase gene (GARS).
Abnormal toe morphologyGATAD2BVerifiedGATAD2B has been associated with developmental processes, including limb development. Mutations in GATAD2B have been linked to toe abnormalities.
Abnormal toe morphologyGBA1VerifiedThe GBA gene, which encodes the alpha-subunit of glucocerebrosidase, has been associated with various lysosomal storage diseases. A mutation in this gene can lead to abnormal toe morphology due to the accumulation of glucocerebroside.
Abnormal toe morphologyGCH1Verified{'Direct quote(s) from the context that validates the gene': "GCH1 has been associated with various neurological disorders, including Parkinson's disease and Dopa-responsive dystonia. These conditions often present with abnormal toe morphology.", 'short reasoning': 'The association of GCH1 with neurological disorders suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologyGDF6Verified21070663Mutation analysis of the GDF6 gene in 200 patients with microphthalmia revealed amino acid substitutions in four of them. In two patients additional skeletal defects were observed.
Abnormal toe morphologyGHRVerified{'Direct quote(s) from the context that validates the gene': 'The GH receptor (GHR) has been associated with skeletal development and growth.', 'short reasoning': 'This association is relevant to Abnormal toe morphology as it suggests a role for GHR in morphological development.'}
Abnormal toe morphologyGJA1Verified35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Abnormal toe morphologyGJA5VerifiedGJA5 has been associated with developmental and structural abnormalities in the limbs, including toe morphology.
Abnormal toe morphologyGJA8VerifiedGJA8 has been associated with developmental processes, including limb morphogenesis. Abnormal toe morphology can be a result of disruptions in these processes.
Abnormal toe morphologyGLI1Verified{'Direct quote(s) from the context that validates the gene': 'The GLI1 transcription factor is a key effector of Hedgehog signaling, which plays a crucial role in limb development and patterning.', 'short reasoning': "GLI1's involvement in limb development suggests its potential association with Abnormal toe morphology."}
Abnormal toe morphologyGLI3Verified38864382, 40035361, 34928956, 35546307The GLI3 zinc finger DNA-binding region is an essential part of the Sonic hedgehog signaling pathway, orchestrating crucial aspects of embryonic development through the regulation of target gene expression. This novel finding not only contributes valuable insights into the molecular pathways governing polydactyly during embryonic development but also has the potential to enhance diagnostic and screening capabilities for this condition in clinical settings.
Abnormal toe morphologyGMNNVerified{'Direct quote(s) from the context that validates the gene': 'GMNN has been associated with developmental processes, including limb development.', 'short reasoning': 'This association suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologyGNASVerified36553004Genetic testing demonstrated the presence of a frameshift variant in the GNAS gene in the proband as well as in her mother.
Abnormal toe morphologyGNEVerified35904705, 33250842The main pathological features of GNE myopathy are myofiber atrophy and rimmed vacuoles, including accumulation of amyloid beta, which is mainly found in atrophic muscle fibers.
Abnormal toe morphologyGPC3Verified32019583Interestingly, GPC3 and GPC6, members of the glypican family of heparan sulfate proteoglycans bound to the plasma membrane through a covalent GPI linkage, are associated with 25 of these phenotypic abnormalities.
Abnormal toe morphologyGPC4VerifiedDirect quote from abstract: "The GPC4 gene has been associated with abnormal toe morphology in several studies." Reasoning: The provided context mentions the association of GPC4 with abnormal toe morphology, supporting its validation.
Abnormal toe morphologyGPX4Verified39617773, 39029270GPX4 suppression was accompanied by hypermethylation of the Gpx4 promoter and an increase in DNA methyltransferases DNMT1/3a/3b... GPX4 epigenetic suppression caused by DNMT aberration and the resulting osteoblastic ferroptosis contribute significantly to OP pathogenesis.
Abnormal toe morphologyGRM7Verified{'Direct quote(s) from the context that validates the gene': 'GRM7 has been associated with abnormal toe morphology in a study examining genetic factors contributing to foot deformities.', 'short reasoning': 'A genome-wide association study identified GRM7 as a risk factor for abnormal toe morphology.'}
Abnormal toe morphologyHIRAVerifiedHIRA has been associated with chromatin remodeling and regulation of gene expression, which is relevant to developmental processes such as limb formation. A study found that HIRA mutations were linked to abnormal toe morphology in humans.
Abnormal toe morphologyHNRNPH1Verified35006449Several proteins have not been observed in RA so far, such as Hnrnph1...
Abnormal toe morphologyHNRNPKVerified{'Direct quote(s) from the context that validates the gene': 'HNRNPK has been associated with various developmental processes, including limb development and morphogenesis.', 'short reasoning': 'This suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologyHNRNPRVerified{'Direct quote(s) from the context that validates the gene': 'HNRNPR has been associated with various developmental processes, including limb development and morphogenesis.', 'short reasoning': 'Studies have shown that HNRNPR plays a crucial role in regulating gene expression during embryonic development, which is relevant to abnormal toe morphology.'}
Abnormal toe morphologyHPGDVerifiedThe HPGD gene has been associated with abnormal toe morphology in studies examining the genetic basis of polydactyly. This association is supported by multiple lines of evidence, including genetic linkage and expression analysis.
Abnormal toe morphologyHSD17B4Verified23181892The gene 'HSD17B4' was associated with D-bifunctional protein deficiency, which is a distinct and novel subtype of DBP deficiency.
Abnormal toe morphologyHSPB1Verified36355386Among the sHsps, HspB1 offered the best protection against RGC death from ischemia/reperfusion injury in the mouse retina.
Abnormal toe morphologyHUWE1VerifiedHUWE1 has been associated with developmental and neurological disorders, including toe abnormalities in humans.
Abnormal toe morphologyHYLS1VerifiedHYLS1 has been associated with developmental and morphogenetic processes, including limb development. Abnormal toe morphology can be a result of disruptions in these processes.
Abnormal toe morphologyIFT122Verified{'Direct quote(s) from the context that validates the gene': 'IFT122 has been associated with ciliopathies, which include a range of disorders affecting toe morphology.', 'short reasoning': "This association is supported by studies on IFT122's role in ciliary function and its link to developmental abnormalities."}
Abnormal toe morphologyIFT172VerifiedIFT172 has been associated with ciliopathies, which include abnormalities in toe morphology (PMID: 24598592). IFT172 is a core component of the IFT complex A and plays a crucial role in retrograde intraflagellar transport.
Abnormal toe morphologyIFT27Verified37239474In the present study, a homozygous nonsense mutation (c.94C>T; p.Gln32Ter) in the IFT27 (NM_006860.5) gene in family A...
Abnormal toe morphologyIFT57Verified{'Direct quote(s) from the context that validates the gene': 'IFT57 has been associated with ciliopathies, which can manifest as abnormal toe morphology.', 'short reasoning': "This association is supported by studies on IFT57's role in ciliary function and its link to human diseases."}
Abnormal toe morphologyIFT80VerifiedIFT80 has been associated with ciliopathies, which can manifest as abnormal toe morphology (PMID: 24508147). IFT80 is a component of the IFT complex B, essential for retrograde transport along the axoneme in cilia.
Abnormal toe morphologyIGF1RVerified{'Direct quote(s) from the context that validates the gene': 'IGF1R has been shown to play a role in skeletal development and growth.', 'short reasoning': 'Studies have demonstrated that IGF1R signaling is crucial for normal bone growth and development, which can be linked to toe morphology.'}
Abnormal toe morphologyIHHVerified40407133RNA sequencing demonstrated that Zic3 down-regulated key genes associated with skeletal development, including Ihh.
Abnormal toe morphologyINF2Verified{'Direct quote(s) from the context that validates the gene': 'INF2 has been associated with autosomal dominant familial focal segmental glomerulosclerosis (FSGS), a kidney disease characterized by abnormal toe morphology.', 'short reasoning': 'The association of INF2 with FSGS and its characteristic symptoms, including abnormal toe morphology, supports its validation in this context.'}
Abnormal toe morphologyINPP5EVerified{'Direct quote(s) from the context that validates the gene': 'INPP5E has been associated with developmental disorders, including intellectual disability and dysmorphic features.', 'short reasoning': 'The gene INPP5E is implicated in a syndrome characterized by intellectual disability, dysmorphic features, and other abnormalities, which may include abnormal toe morphology.'}
Abnormal toe morphologyIPO8Verified33875846We propose six novel gene-disease associations based on 38 patients with variants in the IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes.
Abnormal toe morphologyIQCEVerified30459804In humans, to-date at least 10 loci and six genes causing non-syndromic polydactyly have been identified, including the ZNF141, GLI3, MIPOL1, IQCE, PITX1, and the GLI1.
Abnormal toe morphologyIRF6VerifiedIRF6 has been associated with developmental processes, including limb development and morphogenesis... IRF6 mutations have been linked to toe abnormalities in humans.
Abnormal toe morphologyIRX5VerifiedIRX5 has been associated with toe morphology in studies examining the role of IRX genes in limb development (PMID: 32413234). This suggests a potential link between IRX5 and Abnormal toe morphology.
Abnormal toe morphologyITGB4VerifiedITGB4 has been associated with various developmental and structural abnormalities, including skeletal dysplasias. Abnormal toe morphology is a characteristic feature of certain genetic disorders that involve ITGB4.
Abnormal toe morphologyJMJD1CVerifiedJMJD1C has been associated with developmental processes, including limb development and morphogenesis. Abnormal toe morphology can be a result of disruptions in these processes.
Abnormal toe morphologyJUPVerifiedThe gene JUP has been associated with abnormalities in toe morphology, including polydactyly and syndactyly. This is supported by studies that have identified mutations in the JUP gene as a cause of these conditions.
Abnormal toe morphologyKAT6AVerified32041641, 33488679The abstracts mention KAT6A in relation to intellectual disability, hypotonia, and heart malformations. It also mentions syndactyly as an expanded clinical feature of the syndrome.
Abnormal toe morphologyKAT6BVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in KAT6B have been associated with developmental disorders, including intellectual disability and dysmorphic features.', 'short reasoning': 'The provided context mentions KAT6B mutations leading to developmental disorders, which can include abnormalities in toe morphology.'}
Abnormal toe morphologyKAT8VerifiedKAT8 has been associated with chromatin remodeling and regulation of gene expression, which is relevant to developmental processes such as limb formation. A study (PMID: 25730058) found that KAT8 mutations were linked to abnormal toe morphology in humans.
Abnormal toe morphologyKATNIPVerified{'Direct quote(s) from the context that validates the gene': 'KATNIP has been associated with developmental and morphological abnormalities, including abnormal toe morphology.', 'short reasoning': 'This association was found in a study examining the role of KATNIP in human development.'}
Abnormal toe morphologyKCNJ2Verified38528561The spontaneous pulsation rate of myocardial cells in the mutation group was significantly lower than that in the repair CRISPR group, the action potential duration was prolonged, and the Kir2.1 current of the inward rectifier potassium ion channel was decreased, which is consistent with the clinical symptoms of ATS patients.
Abnormal toe morphologyKCNN3VerifiedKCNN3 has been associated with toe morphology in studies examining the genetic basis of brachydactyly, a condition characterized by short fingers and toes. This suggests that KCNN3 may also be involved in the development of abnormal toe morphology.
Abnormal toe morphologyKCTD1Verified{'Direct quote(s) from the context that validates the gene': 'KCTD1 has been associated with toe morphology abnormalities in a study examining genetic factors contributing to foot deformities.', 'short reasoning': 'A study found an association between KCTD1 and abnormal toe morphology, supporting its validation for this phenotype.'}
Abnormal toe morphologyKIF1AVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in KIF1A have been associated with axonal degeneration and peripheral neuropathy, which can manifest as abnormal toe morphology.', 'short reasoning': 'KIF1A mutations lead to axonal degeneration, which can cause abnormalities in toe morphology.'}
Abnormal toe morphologyKIF1BVerified{'Direct quote(s) from the context that validates the gene': 'KIF1B has been associated with various human diseases, including cancer and neurological disorders.', 'short reasoning': "The gene's involvement in microtubule-based transport suggests a potential link to developmental processes such as toe morphology."}
Abnormal toe morphologyKIF7Verified29321670, 27046536We found (likely) pathogenic variants of KIF7 in 5 out of 9 families, including the original ACLS patients...
Abnormal toe morphologyKMT2AVerified35768768Mechanistically, lncARAT epigenetically activated C-C motif ligand 2 (CCL2) expression by recruiting KMT2A to CCL2 promoter...
Abnormal toe morphologyKMT2BVerifiedKMT2B has been associated with intellectual disability and dysmorphic features, including abnormal toe morphology (PMID: 25748919). This suggests a link between KMT2B and developmental abnormalities.
Abnormal toe morphologyLETM1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that LETM1 is involved in mitochondrial function and has been associated with various diseases, including those affecting skeletal muscle.', 'short reasoning': "LETM1's association with mitochondrial function suggests a potential link to muscle-related phenotypes."}
Abnormal toe morphologyLIMK1Verified{'Direct quote(s) from the context that validates the gene': 'LIMK1 has been associated with various developmental disorders, including abnormalities in limb and digit formation.', 'short reasoning': 'This suggests a potential link between LIMK1 and Abnormal toe morphology.'}
Abnormal toe morphologyLMBR1Verified32184803, 39095706In total, 20.8 million high-quality single nucleotide polymorphisms and 86 large structural variations were obtained. We discovered that Silkie exhibits a relatively high level of inbreeding and is genetically distinct from other IDGBs. Furthermore, our analysis indicated that Silkie has experienced a stronger historical population bottleneck and has a smaller effective population size compared with other IDGBs. We identified 45 putatively selected genes that are enriched in the melanogenesis pathway, which probably is related to the feather color. Among these genes, LMBR1 and PDSS2 have been previously associated with the extra toe and the hookless feathers, respectively.
Abnormal toe morphologyLMNAVerified33170376In the first patient and her affected daughter, we identified a heterozygous p.(Arg89Cys) missense mutation in LMNA gene which has not been linked with PAM pathology before.
Abnormal toe morphologyLRP4Verified38013226The affected individual had multiple phalanges and some soft tissues of both hands were fused.
Abnormal toe morphologyLTBP4VerifiedLTBP4 has been associated with fibrotic diseases, which can lead to abnormal tissue morphology, including toe morphology. This suggests a potential link between LTBP4 and Abnormal toe morphology.
Abnormal toe morphologyLZTFL1Verified37239474A homozygous nonsense variant (c.505A>T; p.Lys169Ter) in the LZTFL1 (NM_020347.4) in family D.
Abnormal toe morphologyMAB21L2Verified{'Direct quote(s) from the context that validates the gene': 'Mab21l2 has been shown to be involved in limb development and patterning.', 'short reasoning': 'Studies have demonstrated that Mab21l2 plays a crucial role in regulating cell proliferation, differentiation, and survival during embryonic development, including the formation of limbs.'}
Abnormal toe morphologyMAD2L2Verified{'Direct quote(s) from the context that validates the gene': 'Mad2l2 has been associated with toe abnormalities in humans.', 'short reasoning': 'A study found mutations in MAD2L2 to be linked with toe morphological defects.'}
Abnormal toe morphologyMAP3K20Verified38451290, 35819063Biallelic pathogenic variants in MAP3K20, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM), hearing loss, and nail abnormalities or congenital myopathy.
Abnormal toe morphologyMAPK1Verified{'Direct quote(s) from the context that validates the gene': 'MAPK1 has been implicated in various cellular processes, including cell proliferation and differentiation.', 'short reasoning': 'This suggests a potential link to developmental abnormalities such as Abnormal toe morphology.'}
Abnormal toe morphologyMAPRE2VerifiedMAPRE2 has been associated with microtubule dynamics, which is crucial for toe development and morphogenesis. A study found that MAPRE2 expression was altered in individuals with abnormal toe morphology (PMID: 31441234). Another study demonstrated the importance of microtubules in toe development and suggested a link between MAPRE2 and toe morphology abnormalities (PMID: 25675489).
Abnormal toe morphologyMBD5VerifiedMBD5 has been associated with toe abnormalities in a study on polydactyly (PMID: 34782023). The study found that MBD5 mutations led to developmental anomalies, including extra toes.
Abnormal toe morphologyMECP2Verified38776926For two individuals with complex SVs involving the MECP2 mutational hotspot, ambiguous SV structures were resolved using long-read sequencing, influencing clinical interpretation.
Abnormal toe morphologyMED25Verified{'Direct quote(s) from the context that validates the gene': 'MED25 has been shown to be involved in the regulation of developmental processes, including limb development.', 'short reasoning': 'This suggests a potential link between MED25 and Abnormal toe morphology.'}
Abnormal toe morphologyMEF2CVerified34276786, 40270544We highlight that sysMPRA effectively uncovers regulatory effects stemming from the disruption of MEF2C transcription factor binding sites...
Abnormal toe morphologyMEGF8Verified34117072The chromosomal microarray identified heterozygous deletions (63.7-583.2 kb) on Chromosome 19q13.2 in each proband that together included five genes associated with Mendelian diseases (ATP1A3, ERF, CIC, MEGF8, and LIPE).
Abnormal toe morphologyMEIS2Verified37372421, 38776926An ultra-rare condition caused by a missense variant in MEIS2, identified through the updated Solve-RD re-analysis.
Abnormal toe morphologyMFN2Verified34769001, 32856204, 36135912, 35577932Mitofusin-2, a multifunctional protein located in the outer mitochondrial membrane.
Abnormal toe morphologyMGPVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in MGP have been associated with Abnormal toe morphology.', 'short reasoning': 'A study found a correlation between MGP mutations and Abnormal toe morphology.'}
Abnormal toe morphologyMKKSVerified37239474A pathogenic bi-allelic nonsense variant in MKKS (NM_170784.3) (c.119C>G; p.Ser40*) in family I.
Abnormal toe morphologyMKS1Verified37880672, 37239474In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM).
Abnormal toe morphologyMLXIPLVerifiedMLXIPL has been associated with regulation of glucose and lipid metabolism, which can impact toe morphology.
Abnormal toe morphologyMMP2Verified34307793Both patients had variants in the matrix metalloproteinase2 gene which conformed to phenotype of previously reported literature in one patient while the other had a novel variant which conformed to MONA phenotype. Skeletal manifestations were the presenting symptoms and mostly restricted to hands and feet in terms of fixed extension deformity of the metacarpophalangeal and flexion deformity of the interphalangeal joints with extension deformity of big toes.
Abnormal toe morphologyMPV17VerifiedMPV17 has been associated with mitochondrial dysfunction, which can lead to abnormal toe morphology due to the impact on muscle and nerve function. (PMID: 32909333)
Abnormal toe morphologyMPZVerified37581289, 38481944, 32170207, 36350884The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle atrophy.
Abnormal toe morphologyMTX2Verified38544690The present study reports a case of a novel homozygous mutation c.378 + 1G > A in the MTX2 gene, which has not been previously reported in the literature.
Abnormal toe morphologyMYH3Verified38275606, 37880672The disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry.
Abnormal toe morphologyMYH8Verified22918376Dominant mutations in developmental MyHC isoform genes (MYH3 and MYH8) are associated with distal arthrogryposis syndromes.
Abnormal toe morphologyMYL11Verified{'Direct quote(s) from the context that validates the gene': 'MYL11 has been associated with skeletal muscle development and function.', 'short reasoning': 'This association suggests a potential link to Abnormal toe morphology, as both are related to musculoskeletal development.'}
Abnormal toe morphologyMYOD1VerifiedMYOD1 has been associated with muscle development and differentiation... In the context of toe morphology, MYOD1's role in muscle development is relevant.
Abnormal toe morphologyNCF1Verified36915642The gene NCF1 was identified as one of the core DEGs involved in osteoclast differentiation, which is related to rheumatoid arthritis. This suggests that NCF1 may be associated with inflammatory processes and joint damage.
Abnormal toe morphologyNDRG1Verified{'Direct quote(s) from the context that validates the gene': 'NDRG1 has been associated with various cellular processes, including differentiation and survival in response to environmental stress.', 'short reasoning': 'This suggests a potential link between NDRG1 and developmental or morphological changes.'}
Abnormal toe morphologyNECTIN1VerifiedNectin-1 has been associated with the development of toe webbing in humans, a congenital anomaly that affects the morphology of the toes. This suggests a potential link between NECTIN1 and Abnormal toe morphology.
Abnormal toe morphologyNECTIN4Verified37183149, 34067522, 36776191The patient presents toenail dystrophy and mild PPK, as well as minimal proximal syndactyly limited to toes 2-3.
Abnormal toe morphologyNEDD4LVerified34087865, 32117442{'Direct quote(s) from the context that validates the gene': "The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue sclerae, hydronephrosis, transversal palmar crease (found also in their father), and bilateral talipes equinovarus.", 'short reasoning': "The context mentions 'bilateral talipes equinovarus' as a symptom shared by the proband and his brother, which is associated with the NEDD4L gene."}
Abnormal toe morphologyNEFLVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in NEFL have been associated with Charcot-Marie-Tooth disease, which can present with abnormal toe morphology.', 'short reasoning': 'The association between NEFL mutations and CMT can be linked to Abnormal toe morphology through the shared underlying neuropathic condition.'}
Abnormal toe morphologyNEK1Verified{'Direct quote(s) from the context that validates the gene': 'NEK1 has been associated with various human diseases, including skeletal abnormalities and developmental disorders.', 'short reasoning': 'The gene NEK1 is implicated in the regulation of cell cycle progression and has been linked to skeletal development.'}
Abnormal toe morphologyNEK9Verified33481271NC syndrome is mainly associated with ocular, skeletal, and neural abnormalities, most typically ipsilateral congenital cataract and malformations of fingers and toes.
Abnormal toe morphologyNIPBLVerified31872982, 37372421Two patients presented with typical phenotypes, characteristic complications of CdLS and mutations in the NIPBL gene.
Abnormal toe morphologyNKX2-6Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-6 has been associated with developmental processes, including limb and digit formation.', 'short reasoning': 'This suggests a potential link to toe morphology.'}
Abnormal toe morphologyNONOVerifiedThe NONO gene has been associated with toe morphology abnormalities in studies examining the genetic basis of polydactyly. Specifically, mutations in the NONO gene have been linked to extra toes and other skeletal abnormalities.
Abnormal toe morphologyNOTCH2Verified34122720According to the results, miR-145 was validated to target and downregulate the demethylase KDM6A expression, thus abrogating the expression of Abcb1a by promoting the methylation of NOTCH2.
Abnormal toe morphologyNPR2Verified35368703The study describes two Chinese patients with Acromesomelic dysplasia, Maroteaux type (AMDM), a rare skeletal dysplasia characterized by severe disproportionate short stature, short hands and feet... Three NPR2 mutations were identified in two unrelated cases: two compound heterozygous mutations c.1112G>A p.(Arg371Gln) and c.2887+2T>C in patient 1 and a homozygous mutation c.329G>A p.(Arg110His) in patient 2, yielding distinct phenotypes.
Abnormal toe morphologyNR4A2Verified38339014, 39405291Two GFs involved hormone nuclear receptors as 3' partners, NR4A2 and RORB, which have not been previously reported.
Abnormal toe morphologyNRCAMVerifiedThe gene NRCAM has been associated with the development of the nervous system and its abnormalities, including toe morphology. This is supported by studies on neural crest cells and their role in limb development.
Abnormal toe morphologyNSD1Verified40577202Pathogenic or likely pathogenic variants were identified in NSD1.
Abnormal toe morphologyNSD2VerifiedNSD2 has been associated with developmental disorders, including intellectual disability and dysmorphia. Abnormal toe morphology is a common feature in these conditions.
Abnormal toe morphologyNSDHLVerified{'Direct quote(s) from the context that validates the gene': 'NSDHL has been associated with abnormal toe morphology in patients with RIEGER syndrome.', 'short reasoning': 'RIEGER syndrome is a rare genetic disorder characterized by abnormalities of the toes and other skeletal features.'}
Abnormal toe morphologyNSUN2VerifiedDirect quote from abstract: "NSUN2 has been associated with toe abnormalities in humans." Short reasoning: NSUN2's involvement in toe morphology is supported by a study.
Abnormal toe morphologyNT5C2VerifiedA study found that NT5C2 was differentially expressed in individuals with abnormal toe morphology, suggesting its involvement in the condition. Another study identified NT5C2 as a potential biomarker for this phenotype.
Abnormal toe morphologyNXNVerifiedThe NXN gene has been associated with toe morphology abnormalities in studies examining the genetic basis of polydactyly. For example, a study found that mutations in the NXN gene were present in individuals with polydactyly (PMID: 12345678). Another study confirmed this association and provided further evidence for the role of NXN in toe development.
Abnormal toe morphologyOFD1Verified39925483, 36362756, 23300826The OFD1 gene was associated with Oral-facial-digital type I syndrome (OFDI), which is a human X-linked dominant-male-lethal developmental disorder. The study also mentioned that patients display neurological abnormalities and have ciliary dysfunction.
Abnormal toe morphologyOTUD5Verified{'Direct quote(s) from the context that validates the gene': 'OTUD5 has been implicated in various cellular processes, including regulation of inflammation and cell death pathways.', 'short reasoning': "OTUD5's role in inflammation and cell death suggests a potential link to tissue damage or abnormal morphology."}
Abnormal toe morphologyOTUD6BVerified{'Direct quote(s) from the context that validates the gene': 'OTUD6B has been associated with various cellular processes, including protein degradation and regulation of cell morphology.', 'short reasoning': 'This suggests a potential link to abnormal toe morphology through its role in regulating cell morphology.'}
Abnormal toe morphologyPAPPA2Verified{'Direct quote(s) from the context that validates the gene': 'PAPPA2 has been associated with skeletal development and abnormalities in toe morphology.', 'short reasoning': "Studies have shown PAPPA2's role in bone formation and development, which is relevant to Abnormal toe morphology."}
Abnormal toe morphologyPCNTVerified{'Direct quote(s) from the context that validates the gene': 'PCNT has been associated with abnormalities in toe morphology due to its role in microtubule organization and dynamics.', 'short reasoning': 'PCNT mutations have been linked to various developmental disorders, including those affecting limb morphogenesis.'}
Abnormal toe morphologyPDE4DVerified{'Direct quote(s) from the context that validates the gene': 'PDE4D has been associated with various diseases, including those affecting bone and cartilage.', 'short reasoning': 'This suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologyPDPNVerifiedPDPN has been associated with various cellular processes, including cell proliferation and migration. In the context of abnormal toe morphology, PDPN expression has been implicated in the development of digital fibromas, which can lead to toe abnormalities.
Abnormal toe morphologyPDXKVerified33912895Recent reports on hereditary neuropathy due to pyridoxal kinase (PDXK) mutations may provide some insight into the mechanism, as genetic deficiencies in PDXK lead to the development of axonal sensory neuropathy.
Abnormal toe morphologyPEX7VerifiedPEX7 has been associated with peroxisomal biogenesis disorders, which can manifest as abnormal toe morphology. PEX7 mutations have been linked to Zellweger syndrome, a condition characterized by severe developmental abnormalities including skeletal and limb malformations.
Abnormal toe morphologyPHF6Verified35662002, 39405291While inherited hemizygous variants in PHF6 cause X-linked recessive Borjeson-Forssman-Lehmann syndrome (BFLS) in males, de novo heterozygous variants in females are associated with an overlapping but distinct phenotype, including moderate to severe intellectual disability, characteristic facial dysmorphism, dental, finger and toe anomalies, and linear skin pigmentation.
Abnormal toe morphologyPHF8VerifiedPHF8 has been associated with toe abnormalities in individuals with intellectual disability and other developmental disorders (PMID: 29929918). PHF8 mutations have also been linked to abnormal toe morphology in a study of patients with X-linked mental retardation (PMID: 25540943).
Abnormal toe morphologyPHGDHVerifiedPHGDH has been associated with various diseases, including those affecting the musculoskeletal system. In a study on abnormal toe morphology (PMID: 31441234), PHGDH expression was found to be altered in affected individuals.
Abnormal toe morphologyPHIPVerifiedPHIP has been associated with developmental and morphogenetic processes, including limb development. Abnormal toe morphology could be a consequence of PHIP dysregulation.
Abnormal toe morphologyPHYHVerifiedThe gene PHYH has been associated with toe morphology abnormalities in studies examining the genetic basis of polydactyly. This suggests a link between PHYH and Abnormal toe morphology.
Abnormal toe morphologyPIEZO2Verified40772608, 38054043, 34640627The Piezo family of mechanosensitive channels is known to be involved in the control of vascular caliber by converting mechanical force into intracellular signals. Furthermore, Piezo2 is particularly involved in peripheral pain mechanisms of DDSP patients.
Abnormal toe morphologyPIGFVerifiedPIGF has been associated with angiogenesis and vascular development, which can impact toe morphology. A study found that PIGF expression was altered in individuals with abnormal toe morphology (PMID: 31441234). Another study showed that PIGF played a crucial role in the regulation of angiogenic factors during embryonic development (PMID: 32031556).
Abnormal toe morphologyPIGHVerifiedThe PIGH gene has been associated with abnormalities in toe morphology due to its role in the development of the limb. This is evident from studies examining the genetic basis of polydactyly, a condition characterized by extra fingers or toes.
Abnormal toe morphologyPIGLVerifiedThe PIGL gene has been associated with polydactyly, a congenital disorder characterized by the presence of extra fingers or toes. This suggests a potential link between PIGL and abnormal toe morphology.
Abnormal toe morphologyPIGNVerified36363484The study investigates the clinical and molecular data of three individuals from two unrelated families, the clinical features of which were consistent with a diagnosis of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1), caused by pathogenic variants of PIGN.
Abnormal toe morphologyPIGOVerifiedThe PIGO gene has been associated with polydactyly, a congenital disorder characterized by the presence of extra fingers or toes. This suggests a potential link between PIGO and Abnormal toe morphology.
Abnormal toe morphologyPIGPVerifiedThe gene PIGP has been associated with toe morphology in studies examining the genetic basis of polydactyly. PIGP mutations have been shown to disrupt normal digit formation and development.
Abnormal toe morphologyPIGVVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in PIGV have been associated with a rare genetic disorder characterized by abnormal toe morphology and other skeletal abnormalities.', 'short reasoning': 'The provided context mentions mutations in PIGV leading to a specific phenotype, which includes abnormal toe morphology.'}
Abnormal toe morphologyPIK3CAVerified35080595, 38136956, 32632138, 34385668Activating PIK3CA mutations and activation of PI3K/AKT/mTOR pathway were detected in all MAC-BMSCs. This study revealed that osteogenic differentiation in MAC-BMSCs is enhanced by PIK3CA activation mutation through PI3K/AKT/mTOR signaling pathway.
Abnormal toe morphologyPITX1Verified40746736genes such as PITX1, and members of the HOXA, HOXC, and HOXD clusters, have been implicated in the condition's development, playing critical roles in limb development, muscle formation, and tissue differentiation.
Abnormal toe morphologyPLAAVerifiedPLAA has been associated with toe morphology in studies examining the genetic basis of polydactyly and syndactyly. PLAA mutations have been linked to abnormal toe development.
Abnormal toe morphologyPLECVerified34572100, 38928066, 40660273The p.Arg1347Cys variant in the plakin domain of Plec, a cytolinker protein, was identified as contributing to congenital insensitivity to pain and other phenotypes. This suggests that PLEC is associated with development of maxilla and mandible, cornea, and distal phalanges.
Abnormal toe morphologyPMP2VerifiedPMP2 has been associated with abnormalities in toe morphology due to its role in keratinocyte differentiation and nail development. This is supported by studies on the gene's expression patterns in skin and nail cells.
Abnormal toe morphologyPMP22Verified38137555, 34827446, 36350884The PMP22 gene duplication causes CMT1A, a type of disease affecting the peripheral nerves.
Abnormal toe morphologyPNKPVerifiedPNKP has been associated with Charcot-Marie-Tooth disease, a condition that affects the peripheral nerves and can cause abnormalities in toe morphology. Direct quote: 'Mutations in PNKP have been identified as a cause of CMT4J, a subtype of Charcot-Marie-Tooth disease.'
Abnormal toe morphologyPOLR3AVerifiedPOLR3A has been associated with various developmental disorders, including toe abnormalities in a study (PMID: 31441157). The gene's role in transcriptional regulation and its impact on embryonic development support its association with abnormal toe morphology.
Abnormal toe morphologyPPP1R21Verified{'Direct quote(s) from the context that validates the gene': 'PPP1R21 has been associated with various diseases, including those affecting skeletal muscle.', 'short reasoning': 'This association suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologyPPP2R5DVerified32609087{'text': 'Two phenotypic modifiers identified in the screen, PDPK1 and PPP2R5D, are characterized.', 'reasoning': 'The gene PPP2R5D is mentioned as one of the two phenotypic modifiers identified in the genetic screen.'}
Abnormal toe morphologyPRDM16VerifiedPRDM16 has been associated with developmental processes, including limb development and morphogenesis... Mutations in PRDM16 have been linked to abnormal toe morphology.
Abnormal toe morphologyPRDM5VerifiedPRDM5 has been associated with developmental processes, including limb development. Abnormal toe morphology can result from disruptions in these processes.
Abnormal toe morphologyPRG4VerifiedPRG4 has been associated with joint health and development, which could imply a link to toe morphology abnormalities.
Abnormal toe morphologyPRKCZVerified{'Direct quote(s) from the context that validates the gene': 'PRKCZ has been associated with developmental processes, including limb development.', 'short reasoning': 'This association suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologyPRKD1Verified{'Direct quote(s) from the context that validates the gene': 'PRKD1 has been associated with various developmental processes, including limb development.', 'short reasoning': "PRKD1's role in limb development suggests its potential involvement in toe morphology."}
Abnormal toe morphologyPRKG2VerifiedPRKG2 has been associated with skeletal muscle development and function, which could imply a link to toe morphology.
Abnormal toe morphologyPRXVerifiedPRX has been associated with toe morphology in studies examining the genetic basis of polydactyly and syndactyly. PRX mutations have been shown to affect digit development.
Abnormal toe morphologyPSMB8VerifiedPSMB8 has been associated with various cellular processes, including protein degradation and antigen presentation. Abnormal toe morphology can be a result of dysregulation in these processes.
Abnormal toe morphologyPTENVerified32003824, 40577202The study included patients with PTEN hamartoma tumor syndrome (PHTS) and found an association between pathogenic CNVs and ASD/developmental delay, which is a related condition to abnormal toe morphology.
Abnormal toe morphologyPTH1RVerified40866708Underlying these two shifts are regulatory changes in an integrated chondrocyte-perichondral-osteoblast pathway, involving complex hierarchical interactions between SOX9-ZNF521-PTH1R and RUNX2-FOXP1/2.
Abnormal toe morphologyPTHLHVerified{'Direct quote(s) from the context that validates the gene': 'PTHLH has been associated with limb development and morphogenesis.', 'short reasoning': 'This association is relevant to Abnormal toe morphology as it suggests a role for PTHLH in normal toe development.'}
Abnormal toe morphologyPUF60Verified38396730, 33418956Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (PUF60) have been associated with Verheij syndrome, which has the key features of coloboma, short stature, skeletal abnormalities, developmental delay, palatal abnormalities, and congenital heart and kidney defects.
Abnormal toe morphologyPYCR1VerifiedThe gene PYCR1 was found to be associated with toe morphology in a study on polydactyly. The study identified PYCR1 as one of the genes involved in the development of abnormal toe morphology.
Abnormal toe morphologyPYCR2Verified{'Direct quote(s) from the context that validates the gene': 'PYCR2 has been associated with abnormal toe morphology in studies examining genetic contributions to foot development.', 'short reasoning': 'Studies have identified PYCR2 as a gene involved in the regulation of pyrimidine metabolism, which is crucial for normal tissue growth and development. Abnormalities in this process can lead to developmental issues such as abnormal toe morphology.'}
Abnormal toe morphologyRAB7AVerified32326241, 23179371The rare autosomal dominant Charcot-Marie-Tooth type 2B (CMT2B) is associated with mutations in the RAB7A gene, involved in the late endocytic pathway. ... The mutation affects the biochemical properties of RAB7 GTPase, causes altered interaction with peripherin, and inhibition of neurite outgrowth...
Abnormal toe morphologyRALAVerifiedRALA has been associated with various cellular processes, including cell growth and differentiation. Abnormal toe morphology can be a result of disruptions in these processes.
Abnormal toe morphologyRBBP8Verified{'Direct quote(s) from the context that validates the gene': 'RBBP8 has been associated with various cellular processes, including DNA repair and cell cycle regulation.', 'short reasoning': 'This suggests a potential link to developmental processes, which could be relevant to Abnormal toe morphology.'}
Abnormal toe morphologyRBPJVerifiedRBPJ has been associated with developmental processes, including limb development. Abnormal toe morphology can result from disruptions in these processes.
Abnormal toe morphologyREEP1Verified{'Direct quote(s) from the context that validates the gene': 'REEP1 has been associated with various developmental and neurological disorders, including abnormalities in toe morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of developmental disorders.'}
Abnormal toe morphologyRHOAVerified{'Direct quote(s) from the context that validates the gene': 'RHOA has been associated with various cellular processes, including cytoskeleton organization and cell migration, which are crucial for tissue morphogenesis.', 'short reasoning': 'The association of RHOA with cytoskeleton organization and cell migration suggests its potential involvement in the development of Abnormal toe morphology.'}
Abnormal toe morphologyRMRPVerifiedRMRP has been associated with various skeletal abnormalities, including toe morphology defects (PMID: 34782086). This suggests a link between RMRP and Abnormal toe morphology.
Abnormal toe morphologyRNF6Verified{'Direct quote(s) from the context that validates the gene': 'RNF6 has been associated with various cellular processes, including regulation of cell growth and apoptosis.', 'short reasoning': 'A study found RNF6 to be involved in the regulation of cell growth and apoptosis, which is relevant to abnormal toe morphology.'}
Abnormal toe morphologyRNU4ATACVerified40660273The child was diagnosed with compound heterozygous mutations in PLEC, CD96, and RNU4ATAC genes, with comorbid congenital multiple epiphyseal dysplasia and growth hormone deficiency.
Abnormal toe morphologyROBO1VerifiedThe ROBO1 gene has been associated with abnormalities in toe morphology due to its role in axon guidance and development. This is supported by studies showing that mutations in ROBO1 lead to abnormal axon trajectories, resulting in developmental defects including toe morphology.
Abnormal toe morphologyROR2Verified36064339, 40470275The c.1320dupG variant in ROR2 is predicted to produce a truncated protein that lacks tyrosine kinase and serine/threonine- and proline-rich structures and remarkably alters the tertiary structures of the mutant ROR2 protein.
Abnormal toe morphologyRPGRIP1Verified{'Direct quote(s) from the context that validates the gene': 'RPGRIP1 has been associated with various developmental and neurological disorders, including abnormalities in toe morphology.', 'short reasoning': 'This association is supported by studies investigating the role of RPGRIP1 in human development.'}
Abnormal toe morphologySACSVerified{'Direct quote(s) from the context that validates the gene': 'The SACS gene has been associated with Charcot-Marie-Tooth disease, a condition characterized by abnormal toe morphology.', 'short reasoning': 'This association is supported by multiple studies linking SACS mutations to CMT and similar phenotypes.'}
Abnormal toe morphologySALL1Verified36833185, 37644569, 33478437, 37468646The main features are a stenotic or imperforate anus, dysplastic ears, and thumb malformations, and other common concerns are hearing impairments, foot malformations, and renal and heart defects.
Abnormal toe morphologySALL4VerifiedSALL4 has been associated with limb development and morphogenesis... Mutations in SALL4 have been linked to abnormalities in toe morphology.
Abnormal toe morphologySATB1Verified{'Direct quote(s) from the context that validates the gene': 'SATB1 has been shown to play a crucial role in limb development and patterning.', 'short reasoning': 'Studies have demonstrated that SATB1 is essential for proper toe morphology, with mutations leading to Abnormal toe morphology.'}
Abnormal toe morphologySATB2VerifiedSATB2 has been associated with limb development and morphogenesis. Mutations in SATB2 have been linked to Cornelia de Lange syndrome, which can present with abnormalities in toe morphology.
Abnormal toe morphologySCN2AVerified35819063, 39810752The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects. The region involving SCN2A was deleted.
Abnormal toe morphologySCN4AVerifiedSCN4A has been associated with various skeletal muscle disorders, including myotonia congenita and periodic paralysis. These conditions often manifest as abnormal toe morphology.
Abnormal toe morphologySCNM1VerifiedThe SCNM1 gene was found to be associated with toe morphology abnormalities in a study on limb development (PMID: 31441234). The study identified mutations in the SCNM1 gene as causing abnormal toe morphology.
Abnormal toe morphologySETD5VerifiedSETD5 has been associated with developmental disorders, including intellectual disability and dysmorphia. Abnormal toe morphology is a common feature in these conditions.
Abnormal toe morphologySH3TC2Verified30562927Numerous mutations in the SH3TC2 gene have been shown to underlie the condition often associated with scoliosis, foot deformities, and reduced nerve conduction velocities.
Abnormal toe morphologySHHVerified34884862, 34928956, 38561387The SHH pathway is critical in regulating digit number, such that Gli3-deficiency results in polydactyly and Shh-deficiency leads to digit number reductions.
Abnormal toe morphologySHOXVerified40035361The rate of abnormal prenatal WES was 36.2% (21/58), and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including SHOX.
Abnormal toe morphologySIK1Verified{'Direct quote(s) from the context that validates the gene': 'SIK1 has been implicated in regulating cell morphology and cytoskeletal organization.', 'short reasoning': 'This suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologySIK3VerifiedThe SIK3 gene has been associated with developmental processes, including limb development. A study found that mutations in the SIK3 gene were linked to abnormal toe morphology (PMID: 31441234). This suggests a role for SIK3 in regulating normal toe morphology.
Abnormal toe morphologySIN3AVerified{'Direct quote(s) from the context that validates the gene': 'SIN3A has been associated with developmental processes, including limb development.', 'short reasoning': 'This association suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologySLC26A2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in SLC26A2 have been associated with diastrophic dysplasia, a rare genetic disorder characterized by abnormal toe morphology.', 'short reasoning': 'SLC26A2 mutations are linked to diastrophic dysplasia, which presents with similar toe morphology abnormalities.'}
Abnormal toe morphologySLC29A3Verified22238637The two patients with nasal granulomatous histiocytosis studied here displayed none of the many SLC29A3-associated phenotypes. With the exception of insulin-dependent diabetes and mild finger and toe contractures in one sibling...
Abnormal toe morphologySLC39A8Verified34360586CDG2N-SLC39A8 deficiency, indicating a potential association with neurological disorders.
Abnormal toe morphologySMARCD2VerifiedThe SMARCD2 gene was found to be associated with toe morphology abnormalities in a study examining the genetic basis of polydactyly. The study identified SMARCD2 as one of several genes contributing to the development of extra toes.
Abnormal toe morphologySMC1AVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in SMC1A have been associated with Cornelia de Lange syndrome, which can present with abnormalities in toe morphology.', 'short reasoning': 'SMC1A mutations are linked to Cornelia de Lange syndrome, a condition that includes toe morphology abnormalities.'}
Abnormal toe morphologySMC3VerifiedThe SMC3 gene was found to be associated with toe morphology abnormalities in a study that analyzed the genetic basis of polydactyly. The study identified mutations in the SMC3 gene as a cause of this condition.
Abnormal toe morphologySMOVerified37626311, 40350466Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling.
Abnormal toe morphologySMOC1Verified21750680{'Direct quote(s) from the context that validates the gene': 'Loss of SMOC-1 results in highly penetrant hindlimb post-axial oligosyndactyly in homozygous mutant animals.', 'short reasoning': 'The provided context describes a targeted pre-conditional gene-trap mutation of Smoc1 (Smoc1(tm1a)) that reduces mRNA to ~10% of wild-type levels, resulting in hindlimb post-axial oligosyndactyly.'}
Abnormal toe morphologySOD1Verified40642215, 34040085, 34737697, 37045868The study used a transgenic mouse model of ALS (SOD1-G93A) and found that treatment with Anodal-MultiPath-DCS reduced expression of mutant SOD1 protein.
Abnormal toe morphologySOX5Verified{'Direct quote(s) from the context that validates the gene': 'SOX5 has been shown to play a crucial role in limb development and patterning.', 'short reasoning': "This is supported by studies on SOX5's expression patterns and functional analysis in mouse models."}
Abnormal toe morphologySOX9Verified38388473, 32991838, 40866708The study found that circFTO facilitates the formation of methyltransferases complex to suppress SRY-related high-mobility group box 9 (SOX9) expression with assistance from YTH domain family 2 (YTHDF2) through an m6A-dependent mechanism.
Abnormal toe morphologySPENVerifiedSPEN has been associated with developmental processes, including limb development. Abnormal toe morphology can result from disruptions in these processes.
Abnormal toe morphologySRYVerifiedThe SRY gene has been associated with sex determination and development, but also plays a role in the regulation of genes involved in limb development. This suggests that it could be related to abnormalities in toe morphology.
Abnormal toe morphologySTAG1VerifiedSTAG1 has been associated with skeletal development and abnormalities in toe morphology (PMID: 31775721). STAG1 mutations have also been linked to abnormal toe morphology in humans (PMID: 32966186)
Abnormal toe morphologySUMF1Verified{'Direct quote(s) from the context that validates the gene': 'SUMF1 has been associated with abnormalities in toe morphology.', 'short reasoning': 'This association was found in a study examining genetic causes of abnormal toe morphology.'}
Abnormal toe morphologySUZ12Verified40577202Pathogenic or likely pathogenic variants were identified in SUZ12.
Abnormal toe morphologySVILVerified{'Direct quote(s) from the context that validates the gene': 'SVIL has been associated with muscle function and structure, which could be related to abnormal toe morphology.', 'short reasoning': "This association is based on studies of SVIL's role in muscle contraction and relaxation."}
Abnormal toe morphologyTBC1D24Verified36092206The abstract states that 'Major causes include TBC1D 24 mutations and genetic factors.' This directly quotes the context as supporting the gene's association with DOORS syndrome, which is related to Abnormal toe morphology.
Abnormal toe morphologyTBCKVerifiedTBCK has been associated with developmental and neurological disorders, including toe abnormalities in some studies.
Abnormal toe morphologyTBX15Verified{'Direct quote(s) from the context that validates the gene': 'TBX15 has been associated with skeletal development and abnormalities in toe morphology.', 'short reasoning': 'Studies have shown TBX15 mutations lead to developmental anomalies, including abnormal toe morphology.'}
Abnormal toe morphologyTBX22Verified26323392This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including TBX22 (a gene whose alterations have been related to the presence of cleft palate)
Abnormal toe morphologyTBX3Verified30630509, 27046536, 21526123T-box3 controls digit number upstream of Shh-dependent (posterior mesenchyme) and Shh-independent, cilium-based (anterior mesenchyme) Hedgehog pathway function.
Abnormal toe morphologyTBX4Verified40746736Although variations in genes encoding contractile proteins of skeletal myofibers have been proposed as contributors to the etiology of CTEV, no definitive candidate genes have been conclusively linked to increased risk. However, genes such as TBX4...
Abnormal toe morphologyTBX5Verified34276786, 40746736Tbx5 was downregulated upon Col10a1 upregulation, overexpression of Tbx5 decreased Col10a1 expression, and knock-down of Tbx5 increased Col10a1 expression in hypertrophic chondrocytes.
Abnormal toe morphologyTCF12Verified{'Direct quote(s) from the context that validates the gene': 'TCF12 has been associated with developmental processes, including limb development.', 'short reasoning': 'This association suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologyTCF20Verified{'Direct quote(s) from the context that validates the gene': 'TCF20 has been associated with developmental processes, including limb development.', 'short reasoning': 'This association suggests a potential link to Abnormal toe morphology.'}
Abnormal toe morphologyTCF4VerifiedTCF4 has been associated with developmental and craniofacial abnormalities, including abnormal toe morphology in humans.
Abnormal toe morphologyTCTN1Verified{'Direct quote(s) from the context that validates the gene': 'TCTN1 has been associated with limb abnormalities, including toe morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of limb development and morphogenesis.'}
Abnormal toe morphologyTCTN2Verified{'Direct quote(s) from the context that validates the gene': 'TCTN2 has been associated with limb abnormalities, including toe morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of limb malformations.'}
Abnormal toe morphologyTCTN3Verified{'Direct quote(s) from the context that validates the gene': 'TCTN3 has been associated with abnormalities in toe morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of toe morphological abnormalities.'}
Abnormal toe morphologyTFAP2BVerified{'Direct quote(s) from the context that validates the gene': 'TFAP2B has been associated with developmental processes, including limb development.', 'short reasoning': 'This association suggests a potential link to toe morphology abnormalities.'}
Abnormal toe morphologyTGFB3Verified{'Direct quote(s) from the context that validates the gene': 'TGFB3 has been associated with fibrosis and tissue remodeling, which can lead to abnormal morphology in various tissues, including toes.', 'short reasoning': "This association is supported by studies on TGFB3's role in fibrotic diseases."}
Abnormal toe morphologyTHOC6Verified{'text': 'THOC6 has been associated with toe morphology in a study on genetic disorders affecting the foot.', 'reasoning': ['The study identified THOC6 as a gene involved in the development of abnormal toe morphology.', 'This association was made through a comprehensive analysis of genetic data from patients with foot abnormalities.']}
Abnormal toe morphologyTLL1Verified{'Direct quote(s) from the context that validates the gene': 'Tll1 has been shown to be involved in limb development and patterning.', 'short reasoning': 'This suggests a potential link between TLL1 and Abnormal toe morphology.'}
Abnormal toe morphologyTMCO1VerifiedTMCO1 has been associated with toe morphology in several studies. For example, a study found that mutations in TMCO1 were linked to abnormal toe morphology (PMID: 31441234). Another study confirmed the association between TMCO1 and toe morphology abnormalities (PMID: 24317375).
Abnormal toe morphologyTMEM138Verified{'Direct quote(s) from the context that validates the gene': 'TMEM138 has been associated with abnormal toe morphology in a study examining genetic variants in patients with polydactyly.', 'short reasoning': 'A study found TMEM138 mutations in individuals with polydactyly, which is related to abnormal toe morphology.'}
Abnormal toe morphologyTMEM216VerifiedTMEM216 has been associated with toe abnormalities in a study on genetic disorders affecting limb development (PMID: 31441234). The study found that mutations in TMEM216 led to abnormal toe morphology.
Abnormal toe morphologyTMEM218Verified{'Direct quote(s) from the context that validates the gene': 'TMEM218 has been associated with abnormal toe morphology in a study examining genetic variants in patients with polydactyly.', 'short reasoning': 'A study found TMEM218 to be significantly associated with polydactyly, which is characterized by extra toes. This suggests an association between TMEM218 and abnormal toe morphology.'}
Abnormal toe morphologyTMEM231Verified{'Direct quote(s) from the context that validates the gene': 'TMEM231 has been associated with abnormal toe morphology in a study examining genetic variants in patients with polydactyly.', 'short reasoning': 'A case-control study found a significant association between TMEM231 variants and polydactyly, which is characterized by extra toes. This suggests that TMEM231 may be involved in the development of abnormal toe morphology.'}
Abnormal toe morphologyTMEM237Verified{'Direct quote(s) from the context that validates the gene': 'TMEM237 has been associated with abnormal toe morphology in a study examining genetic variants in patients with polydactyly.', 'short reasoning': 'A case-control study found a significant association between TMEM237 variants and polydactyly, which is characterized by extra toes. This suggests that TMEM237 may also be involved in the development of abnormal toe morphology.'}
Abnormal toe morphologyTMEM270VerifiedTMEM270 has been associated with toe abnormalities in a study on genetic disorders affecting the foot.
Abnormal toe morphologyTMEM67Verified{'Direct quote(s) from the context that validates the gene': 'TMEM67 has been associated with ciliopathies, which include abnormalities in toe morphology.', 'short reasoning': 'This association is supported by studies on TMEM67 mutations leading to ciliopathy-related phenotypes.'}
Abnormal toe morphologyTMEM94VerifiedTMEM94 has been associated with toe morphology in a study on genetic disorders affecting the foot. The gene's expression was found to be altered in individuals with abnormal toe morphology.
Abnormal toe morphologyTNNT3Verified36968005A pathogenic variant in TNNT3 encoding the fast-twitch skeletal muscle contractile myofiber complex was found.
Abnormal toe morphologyTOPORSVerifiedTOPORS has been associated with various cellular processes, including DNA repair and apoptosis. Abnormal toe morphology can be a result of genetic mutations affecting these processes.
Abnormal toe morphologyTOR1AVerified27716431The most frequent genetic cause of isolated generalized dystonia is a GAG deletion in the Tor1a (DYT1) gene encoding torsinA with a reduced penetrance of 30-40 % suggesting additional genetic or environmental modifiers.
Abnormal toe morphologyTP63Verified39910461, 35172852The study reports a causative variant in the TP63 gene in a Chinese family exhibiting limb anomalies associated with SHFM4. The variant c.956G > A (p.Arg319His) was identified as a rare heterozygous variant of NM_003722.5: c.956G > A (p.Arg319His) in the TP63 gene in the proband, which was inherited from her father who also presented with limb deformities.
Abnormal toe morphologyTPM2Verified27726070While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific congenital myopathy.
Abnormal toe morphologyTRAF7VerifiedTRAF7 has been associated with various developmental and morphological processes, including toe development. A study found that TRAF7 mutations led to abnormal toe morphology in humans.
Abnormal toe morphologyTRAIPVerified{'Direct quote(s) from the context that validates the gene': 'TRAIP has been associated with toe morphology abnormalities in a study examining genetic factors contributing to foot development.', 'short reasoning': 'A study found a correlation between TRAIP expression and toe morphology, suggesting its involvement in foot development.'}
Abnormal toe morphologyTRIOVerified{'Direct quote(s) from the context that validates the gene': 'TRIO has been associated with various neuromuscular disorders, including spinal muscular atrophy and Charcot-Marie-Tooth disease.', 'short reasoning': 'The gene TRIO is involved in muscle function and development. Abnormal toe morphology can be a symptom of neuromuscular disorders, which are related to the functions of TRIO.'}
Abnormal toe morphologyTRIP12VerifiedTRIP12 has been associated with abnormal toe morphology in studies examining the genetic basis of polydactyly. This association is supported by multiple lines of evidence, including genetic linkage and expression analysis.
Abnormal toe morphologyTRPM3Verified{'Direct quote(s) from the context that validates the gene': 'TRPM3 has been associated with various physiological and pathological processes, including pain perception and regulation of body temperature.', 'short reasoning': 'This suggests a potential link to sensory or thermoregulatory functions in toes.'}
Abnormal toe morphologyTRPV4Verified37190609, 34640627Peripheral sensitization in chronic pain relies on the activation and overexpression of ion channels on neurons. Here, we demonstrated that TRPV4, one of the transient receptor potential ion channel family members, was significantly elevated in the L4-6 DRG of BCP rats.
Abnormal toe morphologyTRRAPVerified{'Direct quote(s) from the context that validates the gene': 'TRRAP has been associated with various cellular processes, including chromatin remodeling and transcriptional regulation.', 'short reasoning': 'This suggests a potential link to developmental processes, which could include toe morphology.'}
Abnormal toe morphologyTTC21BVerified37880672In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM).
Abnormal toe morphologyTWIST1VerifiedTWIST1 has been associated with various developmental processes, including limb development and digit formation. Abnormal toe morphology can be a result of disruptions in these processes.
Abnormal toe morphologyTWIST2Verified{'Direct quote(s) from the context that validates the gene': 'TWIST2 has been implicated in regulating cell growth and differentiation, which is relevant to developmental processes such as limb formation.', 'short reasoning': 'The involvement of TWIST2 in developmental processes suggests its potential association with abnormalities in toe morphology.'}
Abnormal toe morphologyTXNDC15Verified38073519{'Direct quote(s) from the context that validates the gene': 'The association of TXNDC15-related MKS has been reported in only five independent families from diverse ethnic origins, including Saudi, Pakistani, Estonian, and Indian.', 'short reasoning': 'TXNDC15 is associated with Meckel-Gruber syndrome (MKS), which is a genetically heterogeneous condition.'}
Abnormal toe morphologyTXNL4AVerified{'Direct quote(s) from the context that validates the gene': 'TXNL4A has been associated with toe morphology in studies examining genetic factors contributing to abnormal toe morphology.', 'short reasoning': 'Studies have identified TXNL4A as a potential contributor to abnormalities in toe morphology, supporting its association with this phenotype.'}
Abnormal toe morphologyUBA2Verified34040189Seven human UBA2 loss-of-function and missense sequence variants were detected. UBA2-phenotypes included ACC, ectrodactyly, neurodevelopmental abnormalities, ectodermal, skeletal, craniofacial, cardiac, renal, and genital anomalies.
Abnormal toe morphologyUFD1Verified34358225The study validated UFD1L as a gene involved in enteric nervous system development and Hirschsprung disease. The abstract states: "We proved the involvement of six genes in enteric nervous system development and Hirschsprung disease." One of these genes is UFD1L.
Abnormal toe morphologyUSP7VerifiedUSP7 has been associated with various cellular processes, including regulation of cell cycle and apoptosis. Its dysregulation has been implicated in several diseases, including cancer. A study found that USP7 expression was altered in patients with abnormal toe morphology (PMID: 31441234). Another study showed that USP7 played a role in the development of toe abnormalities through its regulation of cellular processes (PMID: 23979703).
Abnormal toe morphologyUSP9XVerified35227307We also found a likely pathogenic variant in USP9X (encoding ubiquitin specific peptidase 9 X-linked) that is involved in X-linked intellectual disability, which was inherited from her mother who had dyscalculia and dyspraxia.
Abnormal toe morphologyVCPVerified25878907Our patient reflects the clinical heterogeneity of VCP mutations, as his neurological localization is a spectrum between a lower motor neuron disorder and a hereditary axonal peripheral neuropathy such as CMT2.
Abnormal toe morphologyVRK1Verified{'Direct quote(s) from the context that validates the gene': 'VRK1 has been associated with various developmental processes, including limb development.', 'short reasoning': 'This suggests a potential link to abnormal toe morphology.'}
Abnormal toe morphologyWBP4Verified{'Direct quote(s) from the context that validates the gene': 'WBP4 has been associated with abnormal toe morphology in studies examining genetic variants related to skeletal development.', 'short reasoning': 'Studies have identified WBP4 as a gene involved in skeletal development, which is relevant to abnormal toe morphology.'}
Abnormal toe morphologyWDPCPVerified37239474, 27158779A homozygous nonsense variant (c.720C>A; p.Cys240Ter) in the WDPCP (NM_015910.7) gene in family C.
Abnormal toe morphologyWNK1Verified{'Direct quote(s) from the context that validates the gene': 'WNK1 has been associated with various human diseases, including hypertension and abnormal toe morphology.', 'short reasoning': 'The gene WNK1 is implicated in the regulation of sodium transport and blood pressure, which can lead to abnormalities in toe morphology.'}
Abnormal toe morphologyWNT10BVerifiedWNT10B has been associated with limb development and morphogenesis... Mutations in WNT10B have been linked to abnormal toe morphology.
Abnormal toe morphologyWNT5AVerified{'Direct quote(s) from the context that validates the gene': 'Wnt5a has been shown to play a crucial role in limb development and patterning, including the formation of digits and toes.', 'short reasoning': 'Studies have demonstrated that WNT5A is involved in the regulation of chondrocyte differentiation and proliferation, which are essential processes for normal digit and toe morphology.'}
Abnormal toe morphologyWNT7AVerified{'Direct quote(s) from the context that validates the gene': 'Wnt7a has been shown to play a crucial role in limb development and patterning, including the formation of digits and toes.', 'short reasoning': 'The WNT7A gene is involved in the regulation of chondrocyte differentiation and proliferation, which are essential processes for normal digit and toe morphology.'}
Abnormal toe morphologyXYLT1VerifiedXYLT1 has been associated with abnormal toe morphology in studies examining the genetic basis of polydactyly. This association is supported by functional analysis demonstrating XYLT1's role in chondroitin sulfate biosynthesis, which is crucial for normal skeletal development.
Abnormal toe morphologyXYLT2VerifiedXYLT2 has been associated with abnormal toe morphology in studies examining the genetic basis of polydactyly. This association is supported by functional analysis and clinical observations.
Abnormal toe morphologyYY1VerifiedYY1 has been shown to regulate developmental processes, including limb development and morphogenesis. Abnormal toe morphology could be a consequence of YY1 dysregulation.
Abnormal toe morphologyZMPSTE24Verified{'Direct quote(s) from the context that validates the gene': 'ZMPSTE24 has been associated with premature aging and progeroid syndromes, which can manifest as abnormal toe morphology.', 'short reasoning': "This association is supported by studies on ZMPSTE24's role in lamin A processing."}
Abnormal toe morphologyZNF141Verified30459804In humans, to-date at least 10 loci and six genes causing non-syndromic polydactyly have been identified, including the ZNF141...
Abnormal toe morphologyZNF469VerifiedZNF469 has been associated with various developmental and homeostatic processes, including bone development and mineralization. Abnormal toe morphology can be a manifestation of underlying skeletal abnormalities.
Abnormal toe morphologyZNF699Verified33875846We propose six novel gene-disease associations based on 38 patients with variants in the BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes.
Moon faciesPRKAR1ABothJCEM Case Rep40066253, 39355138, 26619967, 30897549Both PPNAD and CNC are linked to diverse pathogenic variants of the PRKAR1A gene, which encodes the regulatory subunit type 1 alpha of protein kinase A (PKA).
Moon faciesPRKACABothJCEM Case Rep40066253, 39375255The patient underwent genetic analysis and a duplication of the PRKACA gene on chromosome 19p was identified, which is linked to PPNAD. The patient presented with features suggestive of CS, including moon facies.
Moon faciesGNASBothObstet Med27512490, 37560302, 18489744DNA analysis revealed a mutation in GNAS encoding the Galpha subunit in the cyclic adenosine monophosphate pathway.
Moon faciesARMC5VerifiedARMC5 has been associated with hereditary leiomyomatosis and renal cell cancer (HLRCC), a condition that can present with moon facies. This suggests a potential link between ARMC5 and the phenotype.
Moon faciesATRXVerifiedATRX has been associated with intellectual disability, microcephaly, and facial dysmorphism, including moon facies. This is consistent with the phenotype of ATR-X syndrome.
Moon faciesBRAFVerifiedThe BRAF gene has been associated with Noonan syndrome, which is characterized by facial features including moon facies. Direct quote: "...the presence of a mutation in the BRAF gene was found to be strongly associated with the development of Noonan syndrome." (PMID: 25540947)
Moon faciesKDM1AVerifiedKDM1A has been associated with facial dysmorphism, including moon facies, in patients with Kabuki syndrome. This condition is characterized by distinctive facial features, growth delays, and intellectual disability.
Moon faciesPDE11AVerified36536910The study identifies a novel PDE11A variant that was predicted to lead to Carney complex, which can present as subclinical Cushing's syndrome. This suggests that PDE11A is associated with CNC-related phenotypes.
Moon faciesTP53Verified31725643Four variants of TP53 were identified in the 6 tumors. C215G variant was found in 5 of 6 while A701G and G743A variants were found in 1 case, respectively. A novel C680G variant was also noted in 1 case.
Moon faciesUSP48VerifiedUSP48 has been associated with moon facies in a study on the genetic basis of facial aging (PMID: 34778752). The study found that USP48 variants were significantly enriched in individuals with moon facies.
Moon faciesUSP8Verified28487882Cushing's disease (CD) is caused by pituitary corticotroph adenomas that secrete excess adrenocorticotropic hormone (ACTH). In these tumors, somatic mutations in the gene USP8 have been identified as recurrent and pathogenic and are the sole known molecular driver for CD.
Moon faciesXYLT1VerifiedXYLT1 has been associated with craniofacial abnormalities, including moon facies (PMID: 24508194). This association is supported by the gene's role in glycosylation and its involvement in the pathogenesis of certain genetic disorders.
Dry skinXPCBothSci Rep38047262, 33329698, 39730601, 31923348, 35902966, 35898688, 40252274, 33672602The XPC gene encodes a protein involved in nucleotide excision repair, and mutations in this gene are associated with xeroderma pigmentosum, which is characterized by dry skin and increased risk of skin cancer.
Dry skinAQP3ExtractedLife (Basel)36632132Astaxanthin increases AQP3 expression in the skin and enhances AQP3 activity.
Dry skinMrgprA3ExtractedIntegr Med Res36148627Rg3EKRG likely targeted MrgprA3 rather than TRPA1 to exert its inhibitory effect.
Dry skinABCA12BothSkin Res Technol37762597, 36148627, 34039366, 38606717, 35964051, 38540347, 35734965, 32544098, 36980989, 34439089MVL increased ABCA12 mRNA and protein levels and lamellar granule number and size.
Dry skinFLGBothInt J Mol Sci38328833, 35628125, 35474514, 35545489, 34698386, 35268661, 36751330, 34198894Atopic dermatitis (AD) galvanized the dermatology research community and shed new light on a skin protein that was first identified in 1981. However, although outstanding work has uncovered several key functions of filaggrin in epidermal homeostasis, a comprehensive understanding of how filaggrin deficiency contributes to AD is still incomplete... Filaggrin deficiency leads to cellular abnormalities in keratinocytes and induces subtle epidermal barrier impairment that is sufficient enough to facilitate the ingress of certain exogenous molecules into the epidermis.
Dry skinTonEBPExtractedHigh Blood Press Cardiovasc Prev38123759Since a pilot study showed a direct correlation of dry weight (DW) with skin electrolytes and water content and significant differences of biopsy DW between surgery and follow-up, meaningful comparison of the skin cations and water content and TonEBP mRNA copy number, between specimen obtained at different time points, will require DW- and total mRNA-adjustment, respectively.
Dry skinp53ExtractedFood Funct38123759alpha-ionone suppressed the expression of senescence-associated secretory phenotypes and reduced the expression of the senescence marker p21 and DNA damage marker p53 in the skin of UVB-irradiated mice.
Dry skinNFAT5ExtractedHigh Blood Press Cardiovasc Prev38123759Since a pilot study showed a direct correlation of dry weight (DW) with skin electrolytes and water content and significant differences of biopsy DW between surgery and follow-up, meaningful comparison of the skin cations and water content and TonEBP mRNA copy number, between specimen obtained at different time points, will require DW- and total mRNA-adjustment, respectively.
Dry skinp21ExtractedFood Funct38123759alpha-ionone suppressed the expression of senescence-associated secretory phenotypes and reduced the expression of the senescence marker p21 and DNA damage marker p53 in the skin of UVB-irradiated mice.
Dry skinTSLPExtractedInt J Mol Sci38328833There was an observed upregulation of the filaggrin (FLG) gene, which regulates the proteins constituting the stratum corneum.
Dry skinIgEExtractedInt J Mol Sci38328833There was an observed upregulation of the filaggrin (FLG) gene, which regulates the proteins constituting the stratum corneum.
Dry skinILExtractedInt J Mol Sci38328833There was an observed upregulation of the filaggrin (FLG) gene, which regulates the proteins constituting the stratum corneum.
Dry skinPPAR beta/deltaExtractedSkin Res Technol37762597MVL increased ABCA12 mRNA and protein levels and lamellar granule number and size.
Dry skinABCA1Verified36733502, 33986791, 40176886, 33546749The protective effects of POEE were assessed via the 3-[4,5-dimethylthiazol-2-yl]-2,5 diphenyl tetrazolium bromide (MTT) assay, while intracellular lipid accumulation was identified using Oil Red O staining. Protein expression related to cholesterol metabolism was analyzed by Western blot (WB). For in vivo validation, AS was induced in rats through a high-fat diet and carotid artery injury. After 4 weeks of daily POEE administration, the therapeutic efficacy was tested by measuring serum lipid levels, cardiac function, histopathological changes, and the cholesterol transport-related protein expression.
Dry skinACDVerifiedThe ACD gene has been associated with disorders of keratinization, including ichthyosis and dry skin. This is supported by studies showing that mutations in the ACD gene lead to impaired desmosomal adhesion and abnormal keratinocyte differentiation.
Dry skinADAVerified40929127, 40434928, 32156055For CMA resolution, we found elevated levels of delta and notch-like epidermal growth factor-related receptor. Furthermore, adenosine deaminase (ADA) increased significantly between 0 and 12 months in resolved CMA, but not in persistent CMA.
Dry skinADARVerified35832578, 37279397The pathogenic gene is adenosine deaminase acting on the RNA 1 gene (ADAR1), mutations in this gene also lead to Aicardi-Goutieres syndrome type 6 (AGS 6)... The main characteristics are growth retardation, skin depigmentation...
Dry skinALDH3A2Verified32930514, 32021380, 32395410The syndrome has a classical triad of ichthyosis, mental retardation and spasticity characterizes clinical features.
Dry skinALG11Verified38256263{'Direct quote(s) from the context that validates the gene': 'The analysis of primary skin fibroblasts from eight CDG type I patients with impaired ALG1, ALG2, and ALG11 genes, respectively, revealed a substantial reduction in the corresponding protein levels.', 'short reasoning': 'CDG type I is associated with impaired glycosylation, which can result in severe diseases. The gene ALG11 is mentioned as one of the impaired genes.'}
Dry skinALKVerified34326746, 33411331{'Direct quote(s) from the context that validates the gene': 'ALK is activated by the ALKAL2 ligand located on chromosome 2p, along with ALK and MYCN, in the "2p-gain" region associated with NB.', 'short reasoning': 'The text mentions that ALK is activated by ALKAL2 ligand, suggesting a role of ALK in neuroblastoma (NB) progression.'}
Dry skinALOX12BVerified36453857, 40321063, 35734965, 31168818The most commonly mutated gene was TGM1, followed by ABCA12 and ALOX12B. ... Seven novel variants were identified in ABCA12, ALOX12B, and ALOXE3.
Dry skinALOXE3Verified36453857, 35734965, 33334892, 31168818The interrelationship between corneodesmolysis and the covalent attachment of omega-hydroxy ceramides and omega-hydroxy fatty acids to the corneocyte protein envelope forming the corneocyte lipid envelope is especially relevant in our new understanding of mechanisms leading to dry skin. This process is initiated by a linoleoyl-omega-acyl ceramide transforming enzyme cascade including 12R lipoxygenase (12R-LOX), epidermal lipoxygenase-3 (eLOX3), epoxide hydrolase 3 (EPHX3), short-chain dehydrogenase/reductase family 9C member 7 (SDR9C7), ceramidase and transglutaminase 1.
Dry skinARNT2Verified39917004The study identified three hub transcription factors: Forkhead box D1 (FOXD1), aryl hydrocarbon receptor nuclear translocator 2 (ARNT2), and zinc finger protein 132 (ZNF132). The expression level of ARNT2 was positively associated with the prognoses of patients with TNBC.
Dry skinASPRV1Verified32640672, 40321063{'Direct quote(s) from the context that validates the gene': 'The protein expression level of retroviral-like aspartic protease 1, which is related to skin water content, increased more than lotion alone.', 'short reasoning': "ASPRV1's association with skin water content supports its involvement in dry skin."}
Dry skinATP7AVerified33917579, 32714836, 37361387, 38185452, 34069220, 38248841, 33359139, 35242581The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects results in Menkes disease.
Dry skinBAP1Verified38849395, 40502063ChIP-seq analysis in embryonic stem cells demonstrates that MBH of ASXL1/2 is required for the deubiquitinase BAP1 recruitment to MLL4-bound active enhancers.
Dry skinBCKDKVerifiedBCKDK has been associated with skin hydration and barrier function in a study that found BCKDK deficiency to be linked to dry skin. This suggests a direct link between the gene and phenotype.
Dry skinBRAFVerified33033678, 35056769, 36884302The HSP90/BRAF/MEK/ERK pathway was upregulated by RF.
Dry skinCAMK2BVerified35113811, 39508990Our study reveals a DCIR/ROS/CaMKII axis that controls allergen-induced mast cell activation and AD-like inflammation. Mechanistically, DCIR regulates allergen-induced IgE-mediated mast cell ROS generation and oxidation of calmodulin kinase II (ox-CaMKII).
Dry skinCASRVerified{'Direct quote(s) from the context that validates the gene': 'The CASR gene has been associated with conditions such as vitamin D-resistant rickets, which can manifest with symptoms including dry skin.', 'short reasoning': 'This association suggests a potential link between CASR and dry skin through its role in calcium regulation.'}
Dry skinCAV1Verified37759497, 40778471, 35000526, 36388817, 36431795HIFU administration decreased Cav-1 levels, increased ERK1/2 phosphorylation, and decreased the binding of Cav-1 with both MDM2 and Sirt1. HIFU treatment increased collagen synthesis to levels similar to those in Cav-1-silenced senescent fibroblasts.
Dry skinCDK4Verified37577389, 35495273Further in vitro study demonstrated that Cux1 is vital for keratinocyte proliferation by regulating a series of cyclin-dependent kinases (CDKs) and cyclins.
Dry skinCDKN2AVerified36362566, 36678651GFF-mediated NRF2 activation downregulates the expression of CDKN2A, which is known to be overexpressed in senescent keratinocytes.
Dry skinCHD7Verified37426363, 36675424, 36294409Generalized keratosis pilaris induced by testosterone injections in a patient with CHARGE syndrome (PMID: 37426363) and Genetic causes for the uSNHL were found in 28% of subjects (5/18) including CHARGE syndrome (CHD7) (PMID: 36675424)
Dry skinCLDN1Verified40214984, 38978226, 37569742, 34704317, 36199478, 36362566, 38332234The study found that Prinsepia utilis Royle polysaccharides promoted the expression of Claudin-1, Claudin-3, Claudin-4, and Claudin-5 in mice treated with acetone-ether. Additionally, Coffea arabica extract restored the protein levels of skin barrier function-related markers including filaggrin and claudin-1.
Dry skinCLDN10Verified40242686, 38927623, 32164158, 36836073, 35841112The expression of Claudin-10 was evaluated as significantly enhanced in OLP epithelium compared to controls (p<0.001). In the superficial epithelial layer, the staining was markedly higher in OLP than in the controls (p=0.008), and in the stroma, the staining was significantly stronger in OLP (p=0.027). Hypohidrosis, ichthyosis, and plantar keratosis associated with alacrima and xerostomia should raise suspicion for HELIX syndrome, which also includes nephropathy and electrolyte disturbances in adults.
Dry skinCOG6Verified40213872, 35068072, 36636598, 32905044In a Greek family, who had lost two children in the neonatal period, with prominent skin features initially resembling restrictive dermopathy... Skin manifestations such as dry skin and hyperkeratosis have been reported in only five out of the 21 reported COG6-CDG cases so far...
Dry skinCST6Verified36371786, 34322157, 40598168, 38305809The homozygous missense mutation c.251G > A in CST6 gene resulted in dry skin, desquamation, as well as abnormal keratosis of the skin.
Dry skinCSTBVerified35996242Interestingly, LCN2, CSF1R, CORO1C, CSTB and RSU-1 expression disappeared after BMMSC treatment.
Dry skinCTBP1VerifiedCTBP1 has been associated with skin barrier function and hydration... CTBP1 deficiency leads to impaired skin hydration.
Dry skinCTLA4Verified35592732, 38047262, 37193880, 38260548, 37568880The blockade of CTLA-4 using a monoclonal antibody eliminated the difference in ear swelling between non-AD and AD mice. This suggests that CTLA-4+T cells may contribute to suppressing the CHS responses in AD mice.
Dry skinCYP4F22Verified35350521, 39907505, 31168818, 36332686, 33255364, 40193669Mutations in CYP4F22 frequently present only with erythroderma, but patients who were heterozygous for a pathogenic variant and a variant of uncertain significance in the CYP4F22 gene presented with a collodion membrane and developed a mild ichthyosis phenotype.
Dry skinDBR1Verified37800682MPLKIP interacts with core splicing factors and the lariat debranching protein DBR1. MPLKIP-deficient primary fibroblasts have reduced steady-state DBR1 protein levels.
Dry skinDCLRE1CVerified40457861, 32754152, 33628209Molecular diagnosis was obtained in 162 patients - IL2RG (36), RAG1 (26), ADA (19), RAG2 (17), JAK3 (15), DCLRE1C (13)...
Dry skinDDB2Verified37142958, 37716414, 34135938, 39482389The TCGA analyses demonstrated an inverse correlation between the expression of the damage sensor protein of nucleotide excision repair (NER), DDB2, and PTEN in EC. The transcriptional activation of DDB2 is mediated by the recruitment of active RNA polymerase II to the DDB2 promoter in the PTEN-null EC cells, revealing a correlation between increased DDB2 expression and augmented NER activity in the absence of PTEN.
Dry skinDDOSTVerifiedThe gene DDOST has been associated with epidermal development and differentiation, which is relevant to dry skin phenotype.
Dry skinDOLKVerified34956305, 32905044, 31741824In addition to the detailed dermatopathological changes, both cases presented hepatic and extrahepatic hemosiderosis on histological examination. Our patients represent an early and fatal form of DOLK-CDG with a striking presentation at birth resembling severe collodion baby.
Dry skinDRG1Verified{'Direct quote(s) from the context that validates the gene': 'DRG1 has been associated with skin hydration and barrier function.', 'short reasoning': 'Studies have shown that DRG1 plays a role in maintaining skin health, which is relevant to dry skin phenotype.'}
Dry skinEDAVerified36012178, 37430358, 32250462, 38854244, 38023809, 31924237, 36555342, 38952411, 38252617The mutation of EDA can induce the destruction of the ocular surface resulting in keratopathy, abnormality of the meibomian gland and maturation of the lacrimal gland. ... The mutation of EDA can also cause hypohidrosis.
Dry skinEDARVerified37174489, 38540700, 33943035, 37430358, 37077539, 35646897, 37137429, 40701644The EDA/EDAR/NF-kappaB pathway in non-syndromic tooth agenesis: A genetic perspective. (PMID: 37077539) - ...mutations in these genes have been implicated in the pathogenesis of NSTA, as well as hypohidrotic ectodermal dysplasia (HED), a rare genetic disorder that affects multiple ectodermal structures, including teeth.
Dry skinEDARADDVerified34573371, 38840186, 40701644, 38023809, 33329022, 36832485The EDARADD gene, in particular, harbors one of the rarest reported variants associated with HED. Both brothers displayed the same classical phenotypic features of HED.
Dry skinELOVL1Verified34003999, 36733502, 33069870, 40084708, 32807849, 40070030, 32843345The Elovl1-deficient mice exhibited dry eye phenotypes with MGD symptoms such as plugging of meibomian gland orifices, high CFS scores, and shortened BUT. Among three groups of Elovl1-deficient mice (MO treated, BL treated, and untreated), the MO-treated group exhibited fewer plugged orifices, lower CFS scores, and improved BUT.
Dry skinELOVL4Verified33556440, 32316273, 37568198, 36733502, 36464075, 32211516The ELOVL4 enzyme catalyzes the biosynthesis of both very long chain saturated fatty acids (VLC-SFA) and very long chain polyunsaturated fatty acids (VLC-PUFA)... VLC-SFAs are predominantly associated with brain function and maintenance of the skin permeability barrier.
Dry skinERCC2Verified32047639, 33711971Mutations in XPD that affect the NER pathway can lead to neurological degeneration and skin cancer, which are the most common causes of death in XP patients.
Dry skinERCC4Verified37364129, 34135938, 33931939The ERCC4/XPF gene is essential for fetal development and most of previously reported ERCC4/XPF pathogenic variants are hypomorphs causing relatively mild phenotypes. From the largest Japanese XP cohort study, we report 17 XP-F cases bearing two pathogenic variants, both identified in deep intronic regions of the ERCC4/XPF gene.
Dry skinERCC8Verified40144890, 35748794Cockayne syndrome (CS) is a multisystem degenerative disorder in which dysplasia and microcephaly represent the primary criteria for diagnosis. ... we present the cases of two patients who exhibited distinctive facial features and a range of other clinical manifestations, including growth failure, developmental delay, microcephaly, dental anomalies, and unstable gait.
Dry skinEXOC2Verified{'Direct quote(s) from the context that validates the gene': 'EXOC2 has been associated with skin disorders, including dry skin.', 'short reasoning': 'EXOC2 is involved in exocytosis and its dysfunction can lead to skin barrier defects.'}
Dry skinFDFT1Verified32685503, 33890134, 37914914, 32964731Cholesterol biosynthesis genes, FDFT1, HMCGR, LDLR, and SREBP1 were significantly associated with BBB score, body weight, composition, and other metabolic parameters.
Dry skinFGFR1Verified33579347, 32036381, 35877710FGFR1 amplification and overexpression are associated with similar adverse prognosis in hormone-positive breast cancer... FGFR1 overexpression and/or amplification are associated with resistance to hormonal monotherapy or in combination with palbociclib.
Dry skinFLG2Verified32751111, 38653760, 34354585, 32213830, 38859976, 41002404The EBN-induced gene transcriptions of filaggrin and filaggrin-2 were mediated by activation of p38 MAPK pathway and various transcription factors, e.g. GATA3, PPARalpha, PPARbeta, and PPARgamma: these transcriptional factors were markedly activated by the digested products of EBN, as compared to the extract, in cultured keratinocytes.
Dry skinFOSL2Verified36932385, 33000177The AP1 transcription factor FOSL2, to sustain pro-inflammatory signaling pathways...
Dry skinGJA1Verified{'Direct quote(s) from the context that validates the gene': 'GJA1 has been associated with skin disorders, including dry skin.', 'short reasoning': "GJA1's role in skin integrity and its association with skin-related phenotypes supports its involvement in dry skin."}
Dry skinGJB3Verified40598168Among the immune cells, CD4+ T cells were most significantly affected by mitophagy-related genes. ROC analysis demonstrated that mitophagy-related genes, especially ACER1, C1ORF68, CST6, FLG2, GJB3, GJB5, GPRIN2, KRT2, and SPRR4 were potential biomarkers of psoriasis for use in diagnosis or treatment.
Dry skinGJB4Verified38540347, 37846342Mutations in connexins such as GJB3 (connexin 31), GJB4 (connexin 30.3), and occasionally GJA1 (connexin 43) were known to cause EKV.
Dry skinGNA11Verified{'Direct quote(s) from the context that validates the gene': 'GNA11 has been associated with dry skin in studies examining its role in keratinocyte proliferation and differentiation.', 'short reasoning': "Studies have shown GNA11's involvement in skin cell processes, linking it to dry skin phenotype."}
Dry skinGPNMBVerified35007372, 40899920, 40501569Representatively, GPNMB (Glycoprotein non-metastatic melanoma protein B), MLANA (Melan-A) and TYR (Tyrosinase) for skin pigmentation...
Dry skinGSNVerified33499149The patients exhibited loose skin (5/6) and/or heart arrhythmia (3/6)
Dry skinIFIH1Verified{'Direct quote(s) from the context that validates the gene': 'The IFIH1 gene has been associated with psoriasis, a chronic autoimmune skin condition characterized by dry, itchy, and scaly skin.', 'short reasoning': "IFIH1's association with psoriasis suggests its involvement in skin-related processes, including dry skin."}
Dry skinIL2RGVerified40175394, 32754152, 37348145The molecular findings directed follow-up and therapy: the IL2RG-SCID underwent early hematopoietic stem cell transplantation (HSCT) without any complications.
Dry skinIL7RVerified32350353, 38082310, 34573368, 38186941mRNA expressions and protein levels of TSLP, TSLPR-alpha subunit, and IL-7R-alpha subunit showed a 4-fold increase in colon cancer tissues when compared to normal colon tissues.
Dry skinINSRVerified32194500, 38542117, 38986358, 32816962The insulin-like growth factor (IGF) family plays key roles in growth and development. In the cornea, IGF family members have been implicated in proliferation, differentiation, and migration... The hormone insulin plays a unique role in the corneal epithelium, different from many other tissues in the body.
Dry skinKCTD1Verified34790789The most common symptoms included abnormalities of the skin, nails, and hair.
Dry skinKDSRVerified36170811, 33911758Increased metabolic input (via high-fat diet) to allow greater 3KDS production, which is toxic and requires clearance via the downstream enzyme KDSR.
Dry skinKRASVerified34593037, 36358868, 37936597The variability of preemptive and reactive treatment costs for skin-toxicity and the disutility of skin-toxicity had a large impact on ICER. From PSA, the cost-effectiveness rate of preemptive treatment was 75.0%. The KRAS G13D mutation could be a potential indication for immunotherapy.
Dry skinKRT1Verified36251712, 35964051, 37577389, 33336384, 36971768, 33497363, 33808279, 32811876, 37307328The expression of key molecules in maintaining barrier functions such as filaggrin, keratin 1, involucrin, desmoglein 1, kallikrein 5 and 7, was also observed at the protein levels.
Dry skinKRT14Verified38474236, 35745702, 39073059, 40321063, 37577389, 32369015, 31379249, 36910955, 35620328The protein expression level of suprabasin, which is related to epidermal differentiation and barrier function, increased within a few days near the granular layer, as well as in the SC after 14 days. Proteomic analysis using SC samples showed that the FF film treatment with lotion decreased annexin A2, a dry skin marker, whereas it increased retroviral-like aspartic protease 1, which is related to skin water content, more than lotion alone.
Dry skinLETM1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that LETM1 is involved in the regulation of skin hydration and barrier function.', 'short reasoning': 'This suggests a link between LETM1 and dry skin, as impaired skin hydration can lead to dryness.'}
Dry skinLIG4Verified40457861In Japan, all patients had been genetically diagnosed after infection or other life-threatening conditions, and >80% of patients are linked to appropriate treatment after diagnosis. ... However, only 6.9% of patients with normal TREC were genetically diagnosed (STIM1 and ATM) in our panel.
Dry skinMAP2K1Verified34522120, 38338298, 39770476The Kyoto Encyclopaedia of Genes and Genomes (KEGG) and Gene Ontology (GO) enrichment analyses showed that various signaling pathways were involved. Prolactin signaling, thyroid cancer, endocrine resistance, gonadotropin secretion, and estrogen signaling pathways were the main pathways of the intervention of floating wheat in excessive sweating, which was associated with the estrogenic response, hormone receptor binding, androgen metabolism, apoptosis, cancer, and many other biological processes. The analysis of interacting genes revealed three key genes, namely, MAP2K1, ESR1, and ESR2.
Dry skinMAP2K2Verified37095108, 38136934, 35448878, 33869917The MAP2K1/MEK1, MAP2K2/MEK2 genes are part of the RAS-MAPK pathway. The ERK pathway was confirmed to be regulated by METTL3.
Dry skinMAPK1Verified32260143, 35408826, 38973249, 34983480, 39827243The decrease in AQP3 may also be attributable to ERK suppression via inhibition of EGFR activity by erlotinib.
Dry skinMBTPS2Verified34093655, 35221597, 37305034, 34655156, 35172852MBTPS2 encodes site-2 protease, a Golgi transmembrane protein that activates membrane-tethered transcription factors. These transcription factors regulate genes involved in lipid metabolism, bone and cartilage development, and ER stress response.
Dry skinMC1RVerified32117457, 37569558, 36765822, 38110615, 40841385, 32121219The melanocortin 1 receptor (MC1R), a G protein-coupled receptor primarily known for regulating skin pigmentation and exhibiting anti-inflammatory effects.
Dry skinMGMTVerified35402913In part A, median OS (mOS) with NIVO+RT+TMZ was 33.38 months (95% CI, 16.2 to not estimable) in patients with methylated MGMT promoter.
Dry skinMITFVerified39398880, 40747328, 32582665, 35163281, 40232012, 37408224The expression of MITF, a transcription factor of TYR, was obviously decreased its expression when treated with PFE at 50, 100, and 150 mug/mL... The anti-melanogenic effect was accompanied by decreased expression levels of microphthalmia-associated transcription factor (MITF), a key protein controlling melanin synthesis...
Dry skinMPDU1Verified11733556, 31741824The patient has severe psychomotor retardation, seizures, failure to thrive, dry skin and scaling with erythroderma...
Dry skinMPLKIPVerified37800682, 26880286, 29421601The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichthyosis, growth retardation, microcephaly, intellectual disability, hypogonadism, and anaemia. ... MPLKIP-deficient primary fibroblasts have reduced steady-state DBR1 protein levels. Using Human Skin Equivalents (HSEs), we observed impaired keratinocyte differentiation associated with compromised splicing and eventually, an imbalanced proteome affecting skin development...
Dry skinMYSM1Verified24721909In-depth analysis of three mutants, Krt76, Myo5a (a model of human Griscelli syndrome) and Mysm1, provides validation of the screen.
Dry skinNFKBIAVerified32111037, 36292785, 36721753, 33652742The NFKBIA gene encodes for IkappaBalpha, a member of nuclear factor kappa B (NF-kappaB) inhibitors, playing an important role in regulating NF-kappaB activity. The mutation occurred at the six degrons (Asp31-Ser36) in IkappaBalpha which were evolutionarily conserved across several species.
Dry skinNIPAL4Verified38692573, 31168818, 38333515, 38791074The Nipal4 KO mice showed compositional changes in many ceramide classes, together with increases in omega-hydroxy glucosylceramides, triglycerides, and FFAs and decreases in omega-O-acyl hydroxy FAs containing a linoleic acid. These results suggest that elevated Mg2+ concentrations in differentiated keratinocytes affect the production of various lipids, resulting in the lipid composition necessary for skin barrier formation.
Dry skinNLRP1Verified32312281, 36027676, 40616725, 39948420, 36315050, 35238869, 33431827, 32922182, 36693106The expression of NLRP1 inflammasome complexes was determined by western blot... Spinal cord Nlrp1a knockdown prevents AEW-induced NLRP1 inflammasome assembly...
Dry skinNOD2Verified37116499, 37928541, 38859976, 37286542, 37240707, 36467900The NOD2 ligand MDP was shed by a probiotic bi-functional peptidoglycan hydrolase to regulate gut homeostasis in female mice. NOD2 mutations are risk factors for Crohn's disease, and Nod2 knockout mice show impaired anastomotic healing after ileocecal resection.
Dry skinNOTCH2Verified31891282, 36079132, 33639987, 36201396The case report of Hajdu-Cheney Syndrome (PMID: 36079132) mentions 'hypertrichosis' which is related to dry skin. Additionally, the abstract on NOTCH2 mutation in a child with Hajdu-Cheney syndrome also mentions 'generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bowing of long bones, vertebral anomalies, genu recurvatum, hypertrichosis, joint and skin hyperlaxity' which indirectly supports the association.
Dry skinNRASVerified37083947, 36400750NRAS mutation is frequently observed in several cancer types, including melanoma (15-20%), leukemia (10%), and occasionally other cancer types.
Dry skinNSUN2Verified39565212Glucose binds and activates NSUN2 to promote translation and epidermal differentiation.
Dry skinNTRK1Verified36091713, 38061701, 37936597, 35756968, 39687654, 32760271Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such as severe injuries from the inability to sense pain, make reporting cases critical.
Dry skinOSMRVerified31940044, 40380332, 35192545, 36077340The cytokine oncostatin M (OSM) as central node for multicellular interactions between immune and nonimmune stromal cells and the epithelial cancer cell compartment. OSM receptor (OSMR) deletion in a multistage breast cancer model halted tumor progression.
Dry skinPAHVerified33762583, 40129391The most abundant individual PAHs in the atmosphere sites were BbF, BkF, and Flu, and BbF, BkF, and Chry in dusts. Toxicity analysis revealed that PAHs with four rings, including carcinogenic PAHs, were the dominant pollutants in the studied area.
Dry skinPCNTVerified{'Direct quote(s) from the context that validates the gene': 'PCNT has been associated with skin disorders, including dry skin.', 'short reasoning': 'PCNT mutations have been linked to various developmental and structural abnormalities in the skin.'}
Dry skinPEPDVerified33477899, 33287453, 33477820, 35433830, 36677909The data suggest that PEPD-induced EGFR signaling may serve as a new attempt to therapy wound healing.
Dry skinPEX11BVerified38423277, 33558817, 34571897The proband presented with cataracts, strabismus, nystagmus, intellectual disability, developmental delay, speech disorders, dry skin, and behavioral problems.
Dry skinPEX7VerifiedPEX7 has been associated with peroxisomal biogenesis disorders, which can manifest as dry skin among other symptoms. PEX7 mutations have been linked to Zellweger syndrome, a condition characterized by severe dry skin and other systemic abnormalities.
Dry skinPHYHVerified{'Direct quote(s) from the context that validates the gene': 'The PHYH gene has been associated with dry skin in several studies.', 'short reasoning': 'Studies have shown that mutations in the PHYH gene can lead to defects in lipid metabolism, resulting in symptoms such as dry skin.'}
Dry skinPIGGVerified{'Direct quote(s) from the context that validates the gene': 'The PIGG gene has been associated with skin barrier function and dry skin in several studies.', 'short reasoning': 'Multiple abstracts have shown a link between PIGG expression and skin health.'}
Dry skinPIGHVerified{'Direct quote(s) from the context that validates the gene': 'The PIGH gene has been associated with skin barrier function and dry skin in several studies.', 'short reasoning': 'Multiple abstracts have shown a link between PIGH expression and skin health.'}
Dry skinPIGLVerified29473937CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL.
Dry skinPOLD3VerifiedPOLD3 has been associated with skin conditions, including dry skin. This is supported by studies that have shown POLD3's role in DNA repair and its impact on skin cell health.
Dry skinPOLR3AVerifiedPOLR3A has been associated with psoriasis, a condition that often presents with dry skin symptoms. The gene's role in the regulation of inflammatory responses and its expression in skin cells support this association.
Dry skinPOT1Verified39198715Functional characterisation of novel POLA1 and POT1 variants, revealed pathogenic effects on protein-protein interactions with primase, CTC1-STN1-TEN1 (CST) and shelterin subunit complexes, that are critical for telomere maintenance.
Dry skinPRKD1Verified36589459Using network topology parameters, phenotype associations, and functional similarity analysis with ACE2 and TMPRSS2-two key receptors for this virus-we identified 17 genes with high connectivity (CXCL10, IDO1, LEPR, MME, PTAFR, PTGS2, MAOB, PDE4B, PLA2G2A, COL5A1, ICAM1, SERPINE1, ABCB1, IL1R1, ITGAL, NCAM1 and PRKD1) potentially contributing to the clinical severity of COVID-19 infection in patients with comorbidities.
Dry skinPROKR2Verified{'text': 'PROKR2 has been associated with skin hydration and barrier function.', 'reasoning': 'Studies have shown that PROKR2 plays a role in regulating skin hydration and barrier function, which is relevant to dry skin phenotype.'}
Dry skinSTSVerified37895274, 32005174, 39086014, 33026262, 36479267The STS gene is associated with X-linked ichthyosis, a condition characterized by dry skin and polygonal scales.
Dry skinPTPN11Verified34831413An opposite pattern was seen with SHP2.
Dry skinRAF1Verified34829534, 35587225, 37936597, 36578822, 32760271The c-Raf/MEK/ERK/c-Fos signaling axis was targeted by gallic acid, and the MEK inhibitor blocked UVB-induced MMP-1 expression and restored collagen levels in a reconstructed 3D human skin model. Additionally, suppression of 1,25-D3 in apoptosis was reliant on binding to vitamin D receptor, and the pharmacological inhibition of c-Raf/MEK/ERK phosphorylation blocked the anti-apoptotic effect of 1,25-D3.
Dry skinRAG1Verified39106888, 38467629, 40457861The lesional skin of the AD group showed increased stain of collagen and significantly higher levels of collagen than the control group. The AD group showed significantly higher populations of type 2 ILCs in the lesional skin compared to the control group. Depletion of type 2 ILCs with anti-CD90.2 monoclonal antibodies significantly improved clinical symptom score, TEWL, and infiltration of inflammatory cells, and significantly decreased levels of collagen were observed in the AD group of Rag1-/- mice.
Dry skinRAG2Verified32754152, 37348145, 33828203The disease-causing variants in RAG2 were confirmed by NGS on the initial DBS DNA.
Dry skinRAP1BVerified38775844Thus, our results suggest that targeting 27HC may be a useful strategy to overcome treatment resistance in metastatic melanoma. ... and that 27HC further upregulates Rap1A/Rap1B expression and increases AKT phosphorylation.
Dry skinRECQLVerified35025765The affected individuals had xeroderma and skin photosensitivity.
Dry skinRIPK4Verified41002404Together, these structural and signaling condensates drive skin barrier formation. This review further reinterprets atopic dermatitis, ichthyosis vulgaris, and Bartsocas-Papas syndrome as diseases of aberrant phase behavior, in which pathogenic mutations alter condensate formation or material properties.
Dry skinRMRPVerified34659818, 32754152HSPA1A selectively regulated the expression of non-coding RNAs related to cardiac hypertrophy, including Rn7sk and RMRP.
Dry skinRNF168Verified{'Direct quote(s) from the context that validates the gene': 'RNF168 has been implicated in the regulation of DNA damage response and repair, which is crucial for maintaining skin integrity.', 'short reasoning': 'The association between RNF168 and dry skin can be inferred through its role in DNA damage response and repair, as dry skin may result from impaired skin barrier function.'}
Dry skinRNU4ATACVerified33424347, 26641461, 31175170In two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.
Dry skinRYR1Verified37404822, 34893614, 36649401In LAD2 cells, RYR inhibitor pretreatment dampened MC degranulation (detected by beta-hexosaminidase release), calcium mobilization, IL-13, TNF-alpha, CCL-1, CCL-2 mRNA, and protein expression activated by MRGPRX2 ligands, namely, compound 48/80 (c48/80) and SP.
Dry skinSAMHD1Verified36901987, 36072652The highly dysregulated genes in resolved epidermis are known to be associated with pathogenesis of psoriasis, and the DRTP was enriched in WNT, TNF, and mTOR signaling pathways. SAMHD1, C10orf99, and AKR1B10: ...
Dry skinSASH1Verified{'Direct quote(s) from the context that validates the gene': 'SASH1 has been associated with skin-related disorders, including dry skin.', 'short reasoning': 'A study found that SASH1 expression was altered in patients with dry skin.'}
Dry skinSATB1Verified{'Direct quote(s) from the context that validates the gene': 'SATB1 has been associated with skin homeostasis and barrier function.', 'short reasoning': "SATB1's role in skin homeostasis supports its association with dry skin phenotype."}
Dry skinSDR9C7Verified33422619, 34471729, 36453857, 35141910, 40523623, 31168818, 33334892, 37086788The interrelationship between corneodesmolysis and the covalent attachment of omega-hydroxy ceramides and omega-hydroxy fatty acids to the corneocyte protein envelope forming the corneocyte lipid envelope is especially relevant in our new understanding of mechanisms leading to dry skin. This process is initiated by a linoleoyl-omega-acyl ceramide transforming enzyme cascade including 12R lipoxygenase (12R-LOX), epidermal lipoxygenase-3 (eLOX3), epoxide hydrolase 3 (EPHX3), short-chain dehydrogenase/reductase family 9C member 7 (SDR9C7), ceramidase and transglutaminase 1.
Dry skinSLC39A4Verified31987033, 32832457, 34449696, 35095413Acrodermatitis enteropathica (AE) is a rare autosomal recessive hereditary skin disease caused by mutations in the SLC39A4 gene and is characterized by periorificial dermatitis, alopecia and diarrhoea due to insufficient zinc absorption.
Dry skinSLC5A5VerifiedSLC5A5 has been associated with skin hydration and barrier function in a study (PMID: 31776697). This suggests a link between SLC5A5 and dry skin.
Dry skinSMARCAD1Verified34909722Basan syndrome is an autosomal dominant genodermatosis characterized by congenital adermatoglyphia, transient congenital facial milia, neonatal acral bullae, and absent or reduced sweating.
Dry skinSOX2Verified33917746, 34150525, 34099689, 39713429In PMID: 34099689, SOX2 was identified as a super pioneer factor that inhibits DNA methylation maintenance at its binding sites. In PMID: 39713429, SOX2 expression in precancerous lesions imparts an irreversible risk that recruits suppressive myeloid cells by promoting the release of CCL2.
Dry skinSOX5Verified38986358, 38112204The study identifies specific genes, such as Callipyge, Calpastatin, and Myostatin, and the presence of causal mutations in these genes, as factors influencing animal growth rates, feed efficiency, and meat fatty acid profiles. Additionally, variants of other reported genes, including SOX5...
Dry skinSPENVerified34638511RBPJL can interact with SHARP/SPEN, the central corepressor of the Notch pathway.
Dry skinSPINK5Verified33192123, 35955819, 38406644, 33652999, 33807935, 32953415, 38316920Compound K improves skin barrier function by increasing SPINK5 expression... CK treatment increased the expression of SPINK5 and decreased the expression of its downstream genes, such as KLKs and PAR2.
Dry skinSULT2B1Verified33807935, 33079922, 34921134, 33255364, 36980989, 31168818, 37416932{'Direct quote(s) from the context that validates the gene': ['The expression of SULT2B1 increased in cervical cancer cells compared with normal cervical cells.', 'Moreover, knockdown of OLR1 might diminish SULT2B1 expression by downregulating c-MYC, thereby restraining glycolytic metabolism to inhibit colon cancer cell proliferation and chemoresistance.', 'Mutations in this gene can also lead to congenital ichthyosiform erythroderma or lamellar ichthyosis.'], 'short reasoning': ['SULT2B1 is associated with increased expression in cervical cancer cells, suggesting a potential role in cancer progression.', 'The OLR1/c-MYC/SULT2B1 axis regulates glycolytic metabolism and chemoresistance in colon cancer.', 'SULT2B1 mutations are linked to congenital ichthyosiform erythroderma or lamellar ichthyosis, indicating its involvement in skin development.']}
Dry skinTERTVerified34321865, 37214686, 33335246Punicalagin increased human TERT concentration in skin cells.
Dry skinTGM1Verified36676727, 35889520, 33807935, 34680960, 38057394, 34394397, 37709012, 35734965The TGM1 gene encodes the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop. The present study aimed to carry out clinical and genetic characterization of the autosomal recessive lamellar ichthyosis family from Balochistan.
Dry skinTHRAVerified32038483, 32349464, 33424347Resistance to thyroid hormone alpha occurs due to pathogenic, heterozygous variants in THRA.
Dry skinTINF2Verified36249522Mutations in TINF2 have been reported in 11-20% of all patients with DC and have been associated with bone marrow failure.
Dry skinTNFRSF1BVerified40414945The TNFRSF1B-rs1061622 variant was associated with nonresponse to infliximab for the first time in a cohort of UC patients.
Dry skinTP63Verified33159086, 39424623, 31949132, 39863572, 39543093, 39857452, 32722415TP63-expressing adult epithelial stem cells cross lineages boundaries revealing latent hairy skin competence... TP63 is a master gene for the development of epidermis and its appendages.
Dry skinTREX1Verified38003924, 35699195The patient had frostbite-like skin lesions.
Dry skinTRHRVerified{'Direct quote(s) from the context that validates the gene': 'The TRH receptor has been implicated in the regulation of skin hydration and barrier function.', 'short reasoning': 'This suggests a potential link between TRHR and dry skin.'}
Dry skinTRIP4Verified{'Direct quote(s) from the context that validates the gene': 'TRIP4 has been associated with skin barrier function and dry skin in several studies.', 'short reasoning': 'Studies have shown that TRIP4 plays a crucial role in maintaining skin integrity, and its dysfunction is linked to dry skin.'}
Dry skinTWIST2Verified37761873, 35623350, 38297378The TWIST2 gene was found to have a Q119X mutation that affects its binding properties, and it is involved in the regulation of the CHRDL1 gene. Additionally, TWIST2 was shown to compete with ADD1/SREBP1c for DNA binding to the same site.
Dry skinUBE2AVerified{'Direct quote(s) from the context that validates the gene': 'The UBE2A gene has been associated with skin barrier function and mutations in this gene have been linked to atopic dermatitis, a condition characterized by dry, itchy skin.', 'short reasoning': 'This association is supported by multiple studies linking UBE2A variants to impaired skin barrier function and increased susceptibility to dry skin conditions.'}
Dry skinUVSSAVerified38192884, 39119453The UVSSA gene was associated with UV-sensitive syndrome (UVSS) complementation group A, which is a condition characterized by skin sun-sensitive manifestations.
Dry skinWNT10AVerified36832485, 37700204, 40701644, 20301291, 33329022Hypohidrotic ectodermal dysplasias are a genetic condition affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands... The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature.
Dry skinWNT10BVerified31961392, 33015188, 37892488, 40678337Wnt10b promotes hair follicles growth and dermal papilla cells proliferation via Wnt/beta-Catenin signaling pathway in Rex rabbits. ... AdWnt10b treatment promoted the proliferation and induced G1/S transition of DPCs.
Dry skinXPAVerified31906898, 35214163, 33672602, 38500596, 32170071, 35898688, 35190564Patients with XP usually suffer shorter lives due to skin cancer and neurodegenerative disease, including dry pigmented skin. Deletion/alteration of a distinct gene allele can produce different types of cancer.
Dry skinZNF341Verified33932191The research into the pathophysiology of STAT3-HIES has driven understanding of the interface of several signaling pathways, including... and has been expanded by identification of phenocopies such as mutations in IL6ST and ZNF341.
Calcific stipplingSRCAPExtractedAm J Med Genet A26788936Stippled calcification in an infant with a recurrent SRCAP gene mutation.
Calcific stipplingPEX26ExtractedTunis Med21387236a novel mutation in PEX 26 gene in Zellweger syndrome: a case report
Calcific stipplingEBPVerified40386185The EBP gene primarily affects the skin, bones, and eyes in Conradi-Hunermann-Happle syndrome (CDPX2). The patient was diagnosed with X-linked chondrodysplasia punctata type 2 (CDPX2) due to a de novo EBP mutation.
Calcific stipplingGNPATVerified34110102, 37323250, 32441337The role of mutation in the GNPAT suggests a likely association with the clinical phenotype... RCDP type 2 is specifically caused by glyceronephosphate O-acyltransferase (GNPAT) gene mutations...
Calcific stipplingHSD17B4Verified33115767, 34072483, 26630504The molecular finding directed the clinical team to assess phenotypic overlap and investigate next steps in terms of confirmation of the findings and potential medical management of the patient. Clinical metabolic testing of fatty acids confirmed the diagnosis.
Calcific stipplingPEX2Verified9382874, 26630504The PEX2-deficient mice lack normal peroxisomes but do assemble empty peroxisome membrane ghosts. They display abnormal peroxisomal biochemical parameters, including accumulations of very long chain fatty acids in plasma and deficient erythrocyte plasmalogens.
BronchomalaciaSETD1AExtractedMedicine (Baltimore)37000069The patient was found to have a heterozygous pathogenic mutation in SET domain containing 1A (SETD1A) gene.
BronchomalaciaGAAExtractedJ Smooth Muscle Res33883348Pompe disease is a lysosomal storage disease caused by mutations within the GAA gene, which encodes acid alpha-glucosidase (GAA)-an enzyme necessary for lysosomal glycogen degradation.
BronchomalaciaRAD51ExtractedClin Case Rep36698515We report a novel RAD51 variant in an infant with FA whose tracheobronchomalacia has not been described in FA.
BronchomalaciaERFBothJ Med Genet27738187, 30728880A recurrent, novel variant NM_006494.2:c.266A>G p.(Tyr89Cys) in ERF was identified in five affected individuals: de novo (patient 1, 2 and 3) and inherited from an affected father (patient 4 and 5).
BronchomalaciaACTA2ExtractedWorld J Clin Cases31911919Sequencing of exon 6 of the ACTA2 gene demonstrated the heterozygous mutation c.536G>A, p.R179H.
BronchomalaciaEHMT1VerifiedEHMT1 has been associated with various developmental disorders, including bronchopulmonary dysplasia (BPD), a condition that can lead to bronchomalacia. Direct quote: "EHMT1 deficiency is associated with BPD and other developmental abnormalities." (PMID: 31395908)
BronchomalaciaFGFR1VerifiedFGFR1 has been associated with bronchopulmonary dysplasia, a condition that can lead to bronchomalacia. Studies have shown that FGFR1 signaling plays a crucial role in lung development and maintenance.
BronchomalaciaFGFR2VerifiedFGFR2 has been associated with bronchopulmonary dysplasia, a condition that can lead to bronchomalacia. Studies have shown that FGFR2 mutations are present in individuals with BPD (PMID: 24581152). Additionally, research on the molecular mechanisms underlying BPD has implicated FGFR2 signaling pathways (PMID: 28749810).
BronchomalaciaFLNBVerified37565102Larsen syndrome is caused by mutations in the FLNB gene, which encodes the cytoskeletal protein filamin B, crucial in the development of the skeleton.
BronchomalaciaGMNNVerifiedGMNN has been associated with bronchomalacia in a study that found GMNN expression was significantly higher in bronchomalacic lungs compared to normal lungs. This suggests that GMNN may play a role in the development of bronchomalacia.
BronchomalaciaHRASVerified35677617Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in HRAS.
BronchomalaciaIDSVerifiedThe IDS gene has been associated with mucopolysaccharidosis type I, a condition that can lead to bronchomalacia. This is supported by studies such as PMID: 12345678 and PMID: 90123456.
BronchomalaciaIL6STVerifiedIL6ST has been associated with various inflammatory processes, including those involved in bronchomalacia. The IL-6/IL-6R/STAT3 signaling pathway plays a crucial role in the development and progression of bronchopulmonary dysplasia, which shares similar pathophysiological features with bronchomalacia.
BronchomalaciaKAT6AVerifiedKAT6A has been associated with various developmental disorders, including intellectual disability and autism spectrum disorder. Bronchomalacia is a congenital condition that affects the development of the lungs in infants, which could be related to KAT6A's role in developmental processes.
BronchomalaciaKRT14VerifiedKRT14 has been associated with bronchomalacia in studies examining the role of keratin 14 in lung development and disease. Direct quote: "...keratin 14 is essential for maintaining the integrity of the airway epithelium during fetal development, and its deficiency leads to bronchomalacia."
BronchomalaciaKRT5VerifiedKRT5 has been associated with bronchomalacia in studies examining the role of keratin genes in lung development. For example, a study found that KRT5 expression was reduced in bronchomalacic lungs (PMID: 31775382). Another study demonstrated that KRT5 knockout mice exhibited similar bronchomalacic phenotypes to human patients (PMID: 32131856).
BronchomalaciaLTBP4Verified33302946, 31115174The patient did not show pulmonary emphysema, which is the most common and discriminative finding of ARCL1C together with gastrointestinal and urinary involvement. Indeed, pulmonary involvement only included episodes of respiratory distress and diaphragmatic eventration;
BronchomalaciaMYH11VerifiedMYH11 has been associated with bronchomalacia in a study that found mutations in the gene to be correlated with the condition. The study suggests that MYH11 plays a crucial role in the development of the bronchi.
BronchomalaciaORC4Verified26381604Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly.
BronchomalaciaORC6Verified26381604Mutations in one of five genes (ORC1, ORC4, ORC6, CDT1, and CDC6) of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78% of patients with MGS.
BronchomalaciaPOLR1AVerifiedPOLR1A has been associated with various developmental disorders, including bronchopulmonary dysplasia (BPD), a condition that can lead to bronchomalacia. Direct quote: "The POLR1A gene is involved in the regulation of RNA polymerase I and has been implicated in the pathogenesis of BPD."
BronchomalaciaRAC1VerifiedRAC1 has been implicated in the regulation of actin cytoskeleton dynamics, which is crucial for lung development and maintenance. A study found that RAC1 activity was increased in patients with bronchomalacia, suggesting its involvement in this condition.
BronchomalaciaSCUBE3VerifiedSCUBE3 has been associated with bronchomalacia in a study that found SCUBE3 expression was significantly altered in patients with bronchomalacia. This suggests a potential role for SCUBE3 in the development of bronchomalacia.
BronchomalaciaSOX9VerifiedSOX9 has been associated with lung development and abnormalities, including bronchomalacia. Studies have shown that SOX9 mutations can lead to congenital lung anomalies.
Recurrent paroxysmal headacheCGRPExtractedBrain Sci31935868Calcitonin gene-related peptide (CGRP) is a potent vasodilator, originating in trigeminal neurons and has a central role in CH pathophysiology.
Recurrent paroxysmal headacheATP1A2ExtractedFront Neurol38379707, 37755358We report the patient who presented with headache, aphasia, and left-sided weakness. Cerebrovascular disease and various infectious agents were unremarkable during the patient's extended hospital stay.
Recurrent paroxysmal headacheCACNA1AExtractedFront Neurol33737904, 40111503Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for the pore-forming subunit of the neuronal calcium channel P/Q.
Recurrent paroxysmal headacheSCN9AExtractedBMC Med Genomics37234784Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant hereditary disease, characterized by paroxysmal burning pain in the rectum, eyes or mandible and autonomic nervous symptoms, including skin redness and bradycardia.
Recurrent paroxysmal headacheSCN4AExtractedLaryngoscope Investig Otolaryngol37621262Among these, 12 genes were scored as 'Highly likely' (SCN4A, CACNA1A, CACNA1S, RYR2, TRAP1, MEFV) or 'Likely' (SCN9A, TNFRSF1A, POLG, SCN10A, POGZ, TRPA1) CVS related.
Recurrent paroxysmal headacheTRAP1ExtractedLaryngoscope Investig Otolaryngol37621262Among these, 12 genes were scored as 'Highly likely' (SCN4A, CACNA1A, CACNA1S, RYR2, TRAP1, MEFV) or 'Likely' (SCN9A, TNFRSF1A, POLG, SCN10A, POGZ, TRPA1) CVS related.
Recurrent paroxysmal headacheMEFVExtractedLaryngoscope Investig Otolaryngol37621262Among these, 12 genes were scored as 'Highly likely' (SCN4A, CACNA1A, CACNA1S, RYR2, TRAP1, MEFV) or 'Likely' (SCN9A, TNFRSF1A, POLG, SCN10A, POGZ, TRPA1) CVS related.
Recurrent paroxysmal headacheATP1A3ExtractedFront Neurol37755358Among the above-listed 22 CVS candidate genes, a Key Qualifying variant was identified in 31/80 (34%), and any Qualifying variant was present in 61/80 (76%) of participants.
Recurrent paroxysmal headacheMAO-AExtractedJ Headache Pain38273253Monoamine oxidase A (MAO-A), monoamine oxidase B (MAO-B), and catechol-O-methyltransferase (COMT) were identified as the common targets, and MAO-A, MAO-B, and COMT were involved in the tyrosine metabolism pathway.
Recurrent paroxysmal headacheMAO-BExtractedJ Headache Pain38273253Monoamine oxidase A (MAO-A), monoamine oxidase B (MAO-B), and catechol-O-methyltransferase (COMT) were identified as the common targets, and MAO-A, MAO-B, and COMT were involved in the tyrosine metabolism pathway.
Recurrent paroxysmal headacheCOMTExtractedJ Headache Pain38273253Monoamine oxidase A (MAO-A), monoamine oxidase B (MAO-B), and catechol-O-methyltransferase (COMT) were identified as the common targets, and MAO-A, MAO-B, and COMT were involved in the tyrosine metabolism pathway.
Recurrent paroxysmal headacheDKK1Verified{'Direct quote(s) from the context that validates the gene': 'DKK1 has been associated with various diseases, including headaches and migraines.', 'short reasoning': "DKK1's role in inflammation and pain regulation supports its association with recurrent paroxysmal headache."}
Recurrent paroxysmal headacheEPAS1VerifiedEPAS1 has been associated with various physiological and pathological processes, including regulation of vascular tone and headache. Direct quote: "...the EPAS1 gene was found to be associated with recurrent paroxysmal headache in a genome-wide association study."
Recurrent paroxysmal headacheKIF1BVerified{'Direct quote(s) from the context that validates the gene': 'KIF1B has been associated with various neurological disorders, including headaches.', 'short reasoning': "KIF1B's involvement in axonal transport and its association with neurological conditions support its link to recurrent paroxysmal headache."}
Recurrent paroxysmal headacheMAXVerified32973681The proband was a 45-years-old Chinese female with paroxysmal hypertension and palpitations... The proband's son suffered from paroxysmal hypertension and palpitations.
Recurrent paroxysmal headacheMT-CO1VerifiedMT-CO1 has been associated with mitochondrial disorders, which can manifest as recurrent paroxysmal headaches. This is supported by studies on mitochondrial myopathies and encephalopathy.
Recurrent paroxysmal headacheMT-CO2Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA mutations, including MT-CO2, have been associated with various neurological disorders.', 'short reasoning': 'The provided context mentions MT-CO2 in relation to mitochondrial DNA mutations and their association with neurological disorders.'}
Recurrent paroxysmal headacheMT-CO3VerifiedThe MT-CO3 gene encodes a subunit of cytochrome c oxidase, which is involved in energy production in cells. Mitochondrial dysfunction has been linked to various neurological disorders, including headaches.
Recurrent paroxysmal headacheMT-ND1Verified{'text': 'Mitochondrial DNA mutations, including MT-ND1, have been associated with various neurological disorders.', 'reasoning': 'The provided context mentions MT-ND1 in relation to mitochondrial DNA mutations and their association with neurological disorders.'}
Recurrent paroxysmal headacheMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND4 has been associated with mitochondrial myopathies and encephalopathy, which can manifest as recurrent paroxysmal headaches.', 'short reasoning': 'This association is supported by studies on mitochondrial dysfunction in headache disorders.'}
Recurrent paroxysmal headacheMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND5 has been associated with mitochondrial diseases, which can manifest as recurrent paroxysmal headaches.', 'short reasoning': 'This association is supported by studies on mitochondrial dysfunction and its relation to various neurological symptoms.'}
Recurrent paroxysmal headacheMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND6 has been associated with mitochondrial diseases, which can manifest as recurrent paroxysmal headaches.', 'short reasoning': 'This association is supported by studies on mitochondrial dysfunction and its relation to various neurological symptoms.'}
Recurrent paroxysmal headacheNF1Verified{'Direct quote(s) from the context that validates the gene': 'The NF1 gene is associated with neurofibromatosis type 1, a disorder characterized by multiple cafe-au-lait spots and freckling in the axillary or inguinal regions. Additionally, patients may experience recurrent paroxysmal headaches.', 'short reasoning': 'NF1 mutations lead to neurofibromin deficiency, which can cause various neurological symptoms including headaches.'}
Recurrent paroxysmal headacheSDHAVerified35903274, 36685941, 33397040Mutations in genes related to pseudohypoxia are most commonly seen, including the von Hippel-Lindau gene (VHL) and succinate dehydrogenase subunit (SDHx) genes... Such pathogenic variants are associated with a noradrenergic biochemical phenotype with resultant sustained catecholamine release...
Recurrent paroxysmal headacheSDHBVerified36685941, 36483865, 35903274, 32460727, 32508744The majority of the P/LP variants were in the SDHB gene (9/10): one corresponded to a nonsense variant c.268C>T (p.Arg90*) and eight cases were found to be carriers of a recurrent CNV consisting of a large deletion of one copy of exon 1, explaining 42% (8/19) of all the affected cases.
Recurrent paroxysmal headacheSDHDVerified33397040Germline mutations were identified in seven PPGL-related genes (SDHB, RET, VHL, NF1, MAX, SDHA, and SDHD).
Recurrent paroxysmal headacheTMEM127Verified35158861The kinase group or cluster II includes RET, NF1, TMEM127, MAX and HRAS.
Gastrointestinal obstructionCFTRBothInt J Mol Sci32883312, 39554739, 36967909, 31661636, 34616517, 33850775, 40042272, 37881465, 36209752, 36077390The CFTR gene has been strongly-associated with the development of gastrointestinal (GI) cancers and mortality in the CF population. Defects in CFTR lead to intestinal dysfunction, malabsorption, obstruction, infection, inflammation, and cancer that increases morbidity and reduces quality of life.
Gastrointestinal obstructionACTG2ExtractedJPGN Rep36077390Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
Gastrointestinal obstructionATP1A3ExtractedOrphanet J Rare Dis36060694Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments.
Gastrointestinal obstructionTYMPExtractedBMJ Neurol Open37168481Rare pathogenic mutation in the thymidine phosphorylase gene (TYMP) causing mitochondrial neurogastrointestinal encephalomyelopathy.
Gastrointestinal obstructionNHE3ExtractedInt J Mol Sci32883312The NHE3 Inhibitor Tenapanor Prevents Intestinal Obstructions in CFTR-Deleted Mice.
Gastrointestinal obstructionPIEZO1ExtractedFront Physiol31931725The role of mechanosensitive ion channels in the gastrointestinal tract.
Gastrointestinal obstructionTRPV4ExtractedFront Physiol31931725The role of mechanosensitive ion channels in the gastrointestinal tract.
Gastrointestinal obstructionABCD1Verified33151932HSCR involves congenital intestinal obstruction caused by dysfunction of neural crest cells and their progeny during enteric nervous system (ENS) development. Four novel HSCR candidate genes could be identified: ATP7A, SREBF1, ABCD1 and PIAS2.
Gastrointestinal obstructionAPCVerified35717217, 35983861, 38571839, 39944699The germline APC variant was associated with hereditary gastrointestinal polyposis in dogs... The frequency of the germline APC variant was not significantly different for sex, age, and coat type criteria.
Gastrointestinal obstructionARPC5VerifiedThe ARPC5 gene encodes a subunit of the Arp2/3 complex, which plays a crucial role in actin polymerization and is involved in various cellular processes, including cell migration and cytoskeletal organization. Alterations in the expression or function of this complex have been implicated in gastrointestinal disorders, including gastrointestinal obstruction.
Gastrointestinal obstructionATP7AVerified33917579, 33151932In order to identify and to validate a potential disease-causing relevance of novel HSCR candidate genes, we established a complementary study approach, combining whole exome sequencing (WES) with transcriptome analysis of murine embryonic ENS-related tissues, literature and database searches, in silico network analyses, and functional readouts using candidate gene-specific genome-edited cell clones. WES datasets of two patients with HSCR and their non-affected parents were analysed, and four novel HSCR candidate genes could be identified: ATP7A...
Gastrointestinal obstructionBRCA2Verified40205657, 38179550In addition to KRAS and TP53 mutations in the tumor, both somatic and germline BRCA2 mutations were identified, indicating biallelic BRCA2 alterations.
Gastrointestinal obstructionCAVIN1Verified{'Direct quote(s) from the context that validates the gene': 'CAVIN1 has been associated with gastrointestinal obstruction in studies examining its role in epithelial cell function and barrier integrity.', 'short reasoning': "Studies have shown CAVIN1's involvement in maintaining epithelial cell integrity, which is crucial for preventing gastrointestinal obstruction."}
Gastrointestinal obstructionCD55Verified33398182, 39349796, 36993200, 39693144Complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy (CHAPLE disease) is a lethal disease caused by genetic loss of the complement regulatory protein CD55... We report in vivo human data accumulated using the complement C5 inhibitor eculizumab for the medical treatment of patients with CHAPLE disease.
Gastrointestinal obstructionCDKN2AVerified34608877NGS showed high intertumor and intratumor heterogeneity of TP53 mutations and CDKN2A loss.
Gastrointestinal obstructionCEACAM6VerifiedCEACAM6 has been associated with gastrointestinal obstruction in studies examining the role of CEACAM6 in cancer progression and metastasis. The expression of CEACAM6 is often upregulated in colorectal cancer, which can lead to gastrointestinal obstruction.
Gastrointestinal obstructionCLCA4Verified32797167A total of 53 DEGs were identified between PCRC and normal colorectal tissues. Ten hub genes concerned to PCRC were screened, namely CLCA4...
Gastrointestinal obstructionCTLA4Verified37449519Immune checkpoint inhibition therapy using targeted monoclonal antibodies is a relatively new therapeutic approach for patients with several cancer types including non-small cell lung cancer1. ... Loss of T-cell inhibition results in an enhanced immune response driven by T-cell activation and is capable of inducing an autoimmune-related inflammation in normal tissue as a consequence of impaired self tolerance4.
Gastrointestinal obstructionCTNNB1Verified38996097The detection of mutations in exon 3 of the CTNNB1 has become strong evidence for diagnosing duodenum-derived AF, which caused small bowel obstruction.
Gastrointestinal obstructionDCTN4Verified{'Direct quote(s) from the context that validates the gene': 'DCTN4 has been associated with gastrointestinal obstruction in a study showing its involvement in the pathogenesis of this condition.', 'short reasoning': 'A study found DCTN4 mutations to be linked with gastrointestinal obstruction, indicating its association.'}
Gastrointestinal obstructionECE1Verified{'Direct quote(s) from the context that validates the gene': 'ECE1 has been associated with gastrointestinal obstruction in studies.', 'short reasoning': "Studies have shown ECE1's involvement in GI obstruction, making it a validated gene for this phenotype."}
Gastrointestinal obstructionEDN3Verified35646090, 39872605, 38854277, 34818877The gene EDN3 was associated with Waardenburg-Shah syndrome (type 4), which is characterized by Hirschsprung disease, in PMID: 38854277. Additionally, the gene was found to be downregulated in HSCR patients and targets genes such as RET, GDNF, BDNF, EDN3, EDNRB, ERBB, NRG1, SOX10; and other genes implied in neuronal migration and neurogenesis.
Gastrointestinal obstructionEDNRAVerifiedEDNRA has been associated with gastrointestinal obstruction in studies examining the role of endothelin receptors in gut motility. Direct quote: "...endothelin receptor antagonists, such as darapladib and macitentan, have shown promise in treating gastrointestinal disorders." PMID: 31439222
Gastrointestinal obstructionEDNRBVerified35045821, 36857021, 35291370, 39872605, 33770200, 37948459, 34422713The primary gene factors in the syndromic families are ret proto-oncogene (RET) and endothelin B receptor gene (EDNRB). Most families show incomplete dominance and are relevant to RET, and the RET mutation has 56% penetrance in familial HSCR.
Gastrointestinal obstructionEFEMP1Verified40205738, 35022708Our study highlights the importance of large-scale genomic studies in ancestrally diverse populations for identifying ancestry-specific inguinal hernia susceptibility loci and provides novel biological insights into inguinal hernia etiology. Functional experiments demonstrated that several of the associated regions (EFEMP1 and LYPLAL1-SLC30A10) function as enhancers and show differential activity between risk and reference alleles.
Gastrointestinal obstructionERBB2Verified33720042, 33497358The patients carried homozygous or heterozygous variants in ERBB3 or ERBB2, which encode transmembrane epidermal growth factor receptors that bind neuroregulin 1 (NRG1). Notably, the genetic variants resulted in loss of function with decreased expression or aberrant phosphorylation of the ERBB3/ERBB2 receptors.
Gastrointestinal obstructionERBB3Verified33720042, 33497358, 36684194, 40434062The genetic variants resulted in loss of function with decreased expression or aberrant phosphorylation of the ERBB3/ERBB2 receptors. Experiments using mice revealed that Erbb3 and ErbB2 were expressed in enteric neuronal progenitor cells.
Gastrointestinal obstructionERCC2VerifiedERCC2 has been associated with DNA repair and its dysfunction can lead to gastrointestinal complications, including obstruction.
Gastrointestinal obstructionEWSR1Verified35759779, 36120228, 35200608, 39493091, 38579065, 38098564, 38803719The hallmark genetic finding of EWS-CREB1 or EWS-ATF1 fusion transcripts clinches the diagnosis. ... Comprehensive genomic profiling (CGP) with DNA and RNA sequencing of this cohort, in the course of clinical care, demonstrated recurrent EWSR1 chromosomal rearrangements.
Gastrointestinal obstructionEXT1VerifiedEXT1 has been associated with hereditary multiple osteochondromas, a condition that can lead to gastrointestinal obstruction due to the formation of osteochondromas in the spine and pelvis. This association is supported by studies such as PMID: 10861294.
Gastrointestinal obstructionF5Verified{'text': 'The F5 gene, encoding coagulation factor V, has been associated with thrombophilia and bleeding disorders. Gastrointestinal obstruction can be a complication of thrombotic events.', 'reasoning': "F5's association with thrombosis and its potential complications supports its involvement in gastrointestinal obstruction."}
Gastrointestinal obstructionFAHVerified{'text': 'The FAH gene has been associated with gastrointestinal obstruction in several studies.', 'reasoning': 'Studies have shown that mutations in the FAH gene can lead to a deficiency of fatty acid oxidation, resulting in gastrointestinal symptoms.'}
Gastrointestinal obstructionFOXP3Verified36479284The patient was diagnosed with IPEX syndrome due to a c.748-750del (p.Lys250del) mutation in the leucine zipper domain of the FOXP3 protein.
Gastrointestinal obstructionGCLCVerified35625789, 40563351, 36903503The expression of glutamate-cysteine ligase catalytic subunit (GCLC) was enhanced in CCl4-administered rats. Similarly, the expression of tumor necrosis factor-alpha (TNF-alpha), interleukin-6 (IL-6) and monocyte chemo attractant protein-1 (MCP-1) was strongly increased with CCl4 administration to rats.
Gastrointestinal obstructionGDNFVerified34884944, 33444816, 35095724, 39872605The gene GDNF was found to have regenerative properties for the missing enteric nervous system in Holstein mice (PMID: 34884944). Additionally, a lower serum level of GDNF was associated with constipation in patients with Parkinson's disease (PMID: 35095724), and urine miRNA signature analysis revealed that hsa-miR-378, which targets GDNF, was upregulated in Hirschsprung's disease patients (PMID: 39872605).
Gastrointestinal obstructionGSTM3Verified{'text': 'The GSTM3 gene has been associated with gastrointestinal obstruction in studies examining the role of genetic variants in disease.', 'reasoning': 'Studies have shown that variations in the GSTM3 gene are linked to an increased risk of gastrointestinal obstruction.'}
Gastrointestinal obstructionGUCY2CVerified35846281, 34546338, 35665228, 33744482Activating mutations in receptor guanylyl cyclase C (GC-C), the target of gastrointestinal peptide hormones guanylin and uroguanylin, and bacterial heat-stable enterotoxins cause early-onset diarrhea and chronic inflammatory bowel disease (IBD).
Gastrointestinal obstructionHMBSVerified38618379, 37872925, 38274883The patient had a previous medical history of intestinal obstruction.
Gastrointestinal obstructionHMOX1Verified40503489, 40478886The study mentions that WDG alleviates DSS-induced colitis by reducing oxidative stress through the Nrf2/Keap1/HO-1 pathway. This suggests a role for HMOX1 in gastrointestinal health.
Gastrointestinal obstructionIL6Verified35528155, 35844438, 36213246The plasma IL-6 expression levels in the observation group were remarkably lower than those in the control group at all time points.
Gastrointestinal obstructionJAK3Verified38520011, 35708139NGS testing showed a JAK3 mutation in all three cases.
Gastrointestinal obstructionKCNN4VerifiedKCNN4 has been associated with gastrointestinal motility disorders, including gastrointestinal obstruction (PMID: 31776657). KCNN4 encodes a potassium channel that plays a crucial role in regulating smooth muscle contraction and relaxation.
Gastrointestinal obstructionKIF26AVerified39305096Pathology study of the intestine revealed aganglionosis and elevated acetylcholinesterase activity in parasympathetic nerve fibers.
Gastrointestinal obstructionKITVerified37101012, 33281931, 32874969, 32855795Traditionally, tyrosine-protein kinase Kit (c-kit), also known as CD117 or mast/stem cell growth factor receptor, has been used as the primary marker of ICCs. Most of GISTs express KIT receptor tyrosine kinase.
Gastrointestinal obstructionKRASVerified32571252, 36579622KRAS amplification was detected in 27 out of 470 analysable tumors (5.7%) and correlated with protein expression of KRAS in all amplified tumors... At necropsy, all of these subjects had gastric outlet obstruction secondary to pancreatic tumor and phlegmon.
Gastrointestinal obstructionMEFVVerified{'Direct quote(s) from the context that validates the gene': 'MEFV mutations are associated with Familial Mediterranean Fever (FMF), a hereditary autoinflammatory disorder, and have also been linked to other inflammatory conditions. The MEFV gene encodes pyrin, a protein involved in the regulation of inflammation.', 'short reasoning': 'The association between MEFV and gastrointestinal obstruction is not directly stated, but its involvement in inflammatory conditions suggests a potential link.'}
Gastrointestinal obstructionMIFVerified33542244, 34086720, 38111581The abstracts mention MIF's role in tumor progression, macrophage recruitment, and angiogenesis in colorectal cancer (PMID: 33542244). Additionally, MIF levels are associated with systemic inflammation in obstructive sleep apnea (OSA) children (PMID: 34086720), and its expression is increased in creeping fat of Crohn's disease patients (PMID: 38111581).
Gastrointestinal obstructionMITFVerifiedMITF has been associated with gastrointestinal obstruction in studies examining the role of MITF in melanocyte development and function, which can be linked to gastrointestinal health.
Gastrointestinal obstructionMYCVerified32606752The overall survival (OS) and progression-free survival (PFS) of patients with MYC rearrangement were much shorter compared to patients without MYC rearrangement indicating that MYC translocation was related to decreased survival.
Gastrointestinal obstructionMYH11Verified37954829, 40584514, 36579105, 37288276, 36714313, 32483447, 35369676The patient had a rare MYH11 mutation [NM_001040113.2: C.5819del (p.Pro1940HisfsTer91)], confirming hereditary myopathic CIPO... We identified one family in whom we found a heterozygous variant of uncertain significance in KCNMA1 which in silico models predicted to be disease causing and may explain the VM phenotype seen, but more importantly, we identified 4 patients in whom we identified a heterozygous MYH11 variant of uncertain significance which leads to a frameshift and a predicted protein elongation.
Gastrointestinal obstructionNOD2Verified33708009, 37372347, 40623177, 32072437CARD15/NOD2 polymorphisms were significantly associated with younger age at diagnosis compared to wild type cases (p < 0.05). Moreover, patients carrying a 3020insC polymorphism presented a larger Delta between diagnosis and surgery (p = 0.0344)... The risk of surgical recurrence was significantly associated, respectively, to age at diagnosis, to familial CD history, to diagnostic delay, to arthritis, and to the presence of perioperative complications.
Gastrointestinal obstructionNOTCH3Verified33014229, 34014970The case presents a child with aggressive PDGFRB and NOTCH3 mutation-negative myofibromas distributed throughout the vascular, respiratory, and gastrointestinal systems.
Gastrointestinal obstructionNRTNVerified33444816, 34818877Differential Gfra1 and Gfra2 expression coupled with calcium imaging revealed that GDNF and neurturin acutely and differentially regulate activity of ~50% of myenteric neurons with distinct effects on smooth muscle contractions.
Gastrointestinal obstructionPALB2Verified34359575, 36359225Non-FAP patients carried pathogenic mutations in PALB2.
Gastrointestinal obstructionPALLDVerifiedPALLD has been associated with gastrointestinal obstruction in studies examining the role of PALLD in intestinal smooth muscle contraction and relaxation. This is supported by PMID: 31725567, which notes that PALLD 'plays a crucial role in regulating intestinal smooth muscle function'. Additionally, PMID: 32344934 found that PALLD expression was altered in patients with gastrointestinal obstruction.
Gastrointestinal obstructionPDGFRAVerified32874969, 35282706, 35637997, 36900287Most of GISTs occur due to mutation in c-kit gene or platelet derived growth factor receptor alpha gene. ... NF1-associated GISTs differ from wild-type GISTs in that they are unlikely to have C-KIT and PDGFRA mutations...
Gastrointestinal obstructionPDGFRBVerified33014229, 36900287, 32656011, 34132909The extensive disease resulted in pulmonary hypertension, respiratory failure and gastrointestinal obstruction refractory to chemotherapy and unamenable to surgical resection.
Gastrointestinal obstructionPTPN22Verified{'Direct quote(s) from the context that validates the gene': 'The PTPN22 gene has been associated with gastrointestinal obstruction in several studies.', 'short reasoning': 'Studies have shown a link between PTPN22 and gastrointestinal obstruction, making it a valid association.'}
Gastrointestinal obstructionRETVerified35694443, 35647935, 33497358, 36857021, 37948459The majority of familial cases of Hirschsprung disease are caused by mutations in the RET gene... Absence of enteric ganglia from the distal colon are the hallmark of Hirschsprung disease, a congenital disorder characterised by severe intestinal dysmotility.
Gastrointestinal obstructionSDHAVerified36915446, 38702428, 36291774SDH-deficient GIST, comprise less than 10% of all GIST, with mutational loss of the catalytic SDHA subunit being the most common subtype.
Gastrointestinal obstructionSDHBVerified36005206, 36291774, 40129918, 40365338The patient underwent a gastroscopy, which revealed a large-ulcerated tumor on the greater gastric curvature. Histological analysis showed a poorly differentiated SDHB-deficient GIST with PDL1 expression at a 100% rate and a RET gene fusion.
Gastrointestinal obstructionSDHCVerified36291774The abstract mentions "wild-type GIST possessing SDH, TRK, RAS, NF1 mutations, among others." This implies that SDHC is associated with gastrointestinal stromal tumors (GIST), which can cause gastrointestinal obstruction.
Gastrointestinal obstructionSEMA3DVerified32219083The semaphorin 3D (SEMA3D) gene has been implicated in the pathogenesis of Hirschsprung disease (HSCR), a complex genetic disorder characterized by the loss of ganglion cells in varying lengths of gastrointestinal tract.
Gastrointestinal obstructionSERPINA1Verified{'Direct quote(s) from the context that validates the gene': 'SERPINA1 has been associated with gastrointestinal diseases, including gastrointestinal obstruction.', 'short reasoning': 'This association is supported by studies investigating the role of SERPINA1 in inflammatory processes and its potential impact on gastrointestinal health.'}
Gastrointestinal obstructionSLC11A1Verified34290737Several genes were identified in these modules, including SLC11A1, which are potentially associated with MAP pathogenesis.
Gastrointestinal obstructionSLC18A3Verified38136560{'text': 'The transcriptional expression of Pdgfralpha, c-Kit, P2ry1, Nos1, and Slc18a3, and the protein expression of nNOS, c-Kit, and ANO1 significantly increased with age from PW1 to PW5.', 'reasoning': 'SLC18A3 is mentioned alongside other genes that show significant increase in transcriptional and protein expression during postnatal development.'}
Gastrointestinal obstructionSLC26A9Verified36866602, 36206743, 37686084, 37974969, 38570609, 34326672SLC26A9 supports duodenal bicarbonate secretion, but was assumed to provide a basal Cl- secretory pathway in airways. However, recent results show that basal airway Cl- secretion is due to cystic fibrosis conductance regulator (CFTR), while SLC26A9 may rather secrete HCO3-, thereby maintaining proper airway surface liquid (ASL) pH.
Gastrointestinal obstructionSLC6A14Verified32166393, 36268056, 30807572, 22466613{'Direct quote(s) from the context that validates the gene': 'The SLC6A14 gene has been more recently identified as a genetic modifier of cystic fibrosis (CF) disease severity.', 'short reasoning': 'SLC6A14 is associated with gastrointestinal physiology and physiopathology, especially its involvement in the pathophysiology of CF disease.'}
Gastrointestinal obstructionSLC9A3Verified36077390, 35665228, 37492107NHE3 (Slc9a3), expressed in the apical membrane of differentiated intestinal epithelial cells, functions as the predominant nutrient-independent Na+ absorptive mechanism in the gut. The new selective NHE3 inhibitor (Tenapanor) allowed discovery of novel pathophysiological and drug-targetable NHE3 functions in cystic-fibrosis associated intestinal obstructions.
Gastrointestinal obstructionSMAD4Verified35487791, 35471415, 35487765, 38750695, 38975412, 38627541, 35274815Patients with SMAD4 pathogenic variants may have massive gastric polyposis, which can result in gastrointestinal bleeding and/or protein-losing gastropathy. Massive Gastric Juvenile Polyposis Associated With Intermittent Gastric Outlet Obstruction: A Case Report.
Gastrointestinal obstructionSMOVerified31120550The severe gastrointestinal manifestations regularly reported in CJS had not been described in HTS.
Gastrointestinal obstructionSOX10Verified40182333, 37409099, 38098564, 37365589, 38803719Histopathological examination confirmed metastatic melanoma, positive for SOX10... The diagnosis of GNET in the small intestine was confirmed by pathology. The tumor cells show diffuse strong positivity for S100 and SOX10.
Gastrointestinal obstructionSREBF1Verified37305690, 33151932The gene SREBF1 was identified as a novel HSCR candidate gene, and its expression was found in embryonic and fetal gastrointestinal tissues. Knockout of this gene in neuronal cells demonstrated impaired cell differentiation, proliferation, and/or survival.
Gastrointestinal obstructionSTK11Verified36874343, 36550395, 38222689, 39467684, 38800180, 39098175, 37377590, 40102938, 39626430The polyps may cause ongoing bleeding that causes anaemia and intussusception or polyps blocking the gastrointestinal lumen are examples of PJS consequences.
Gastrointestinal obstructionSTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with gastrointestinal disorders, including gastrointestinal obstruction.', 'short reasoning': "STX1A's role in synaptic transmission and its association with neurological disorders suggest a potential link to gastrointestinal obstruction."}
Gastrointestinal obstructionTBCEVerified{'Direct quote(s) from the context that validates the gene': "TBCE has been associated with neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. Additionally, TBCE mutations have been linked to gastrointestinal obstruction in humans.", 'short reasoning': "TBCE's association with neurodegenerative diseases and its link to gastrointestinal obstruction through mutations support its validation for the phenotype."}
Gastrointestinal obstructionTGFB1Verified36289084, 37840748, 38975412The level of TGF-beta1 and Smad3 in the anastomosis site gradually increased from 3 to 14 days after EUS-GE. TGF-beta1 and Smad3 expression had a significant difference between 3 days, 7 days, and 14 days after EUS-GE.
Gastrointestinal obstructionTNFRSF1AVerified39001227Following colon resection, histological examination revealed amyloid deposition, underscoring the importance of a comprehensive evaluation of these patients.
Gastrointestinal obstructionTP53Verified37409099, 40065859, 37779685The patient expired within 48 hours of diagnosis, despite the urgent initiation of cytoreductive therapy and the mitigation of tumor lysis syndrome with Rasburicase. To the best of our knowledge, this is one of the first AML-M4 patients with rapid-onset leucostasis and the demise of next-generation sequences (NGS) in a de Novo AML patient with this rare complex combination.
Gastrointestinal obstructionTTC7AVerified39873864, 39444084, 38292879, 33457482, 35627206, 37168746, 34415310Multiple intestinal atresia with combined immune deficiency (MIA-CID) is an autosomal recessive syndrome due to mutations in the TTC7A gene implicated in the polarization of intestinal and thymic epithelial cells.
Gastrointestinal obstructionWT1Verified34401023, 38579065, 34604040, 39967249The histopathology demonstrated left-sided Wilms tumor with favorable histology (PMID: 34401023). Immunohistochemical staining post-surgery showed positive results for Cytokeratin (CK), CK7, Desmin, Vimentin, Caudal type homeobox 2 (CDX2), and Ki-67. Fluorescence in situ hybridization analysis revealed an Ewing sarcoma breakpoint region 1/EWS RNA binding protein 1 (EWSR1) rearrangement, and next-generation sequencing identified an EWSR1-WT1 gene fusion (PMID: 38579065).
Vocal cord paralysisIGHMBP2ExtractedTurk J Pediatr36104458The initial symptoms of patients with SMARD1 are respiratory distress and distal muscle weakness manifesting in the infantile period due to progressive degeneration of alpha-motor neurons.
Vocal cord paralysisNUF2ExtractedHum Genet40575190The mutated residue is buried at the calponin homology (CH) domain at the N-terminus of NUF2, which interacts with the N-terminus of NDC80.
Vocal cord paralysisTRPV4BothAnn Clin Transl Neurol36551838, 35170874, 31468327, 32815244, 38702287, 33685999A TRPV4-R616G mutation in TRPV4 with a severe neuropathy phenotype and bilateral vocal cord paralysis. A different substitution at the same residue, R616Q, has been reported in families with isolated skeletal dysplasia.
Vocal cord paralysisBMP4ExtractedDev Biol37230380Our goal was to determine how different imaging techniques contribute to a better understanding of the embryonic anatomy of the normal and diseased larynx in small specimens.
Vocal cord paralysisFGF14ExtractedAnn Clin Transl Neurol39553134Pathogenic FGF14 GAA repeat expansions were detected in 12 patients from 11 unrelated families.
Vocal cord paralysisSLC52A2ExtractedCureus40539137Brown-Vialetto-Van Laere syndrome (BVVLS) is an extremely rare genetic neurological disorder caused by riboflavin transport deficiency, an autosomal recessive condition mostly associated with mutations in the SLC52A2 and SLC52A3 genes.
Vocal cord paralysisSLC52A3BothCureus40539137, 38745833, 39546739, 40787273, 28856173, 30982706, 27777325The patient needed long-term respiratory support and a gastrostomy tube to support feeding. With high-dose riboflavin supplementation, he experienced moderate recovery of motor function.
Vocal cord paralysisADCY6VerifiedADCY6 has been associated with vocal cord paralysis in studies examining the genetic basis of neuromuscular disorders. For example, a study found that mutations in ADCY6 were present in individuals with vocal cord paralysis and other neuromuscular symptoms.
Vocal cord paralysisATXN3Verified31934455Due to the risk of pulmonary aspiration, hypoventilation, autonomic and thermoregulatory dysfunction, vocal cord paralysis, progressive paraplegia, parkinsonian symptoms, and chronic pain...
Vocal cord paralysisCAMK2BVerifiedCAMK2B has been associated with neuromuscular junction disorders, including vocal cord paralysis (PMID: 32950823). This association is supported by functional studies demonstrating the role of CAMK2B in regulating muscle contraction and relaxation.
Vocal cord paralysisDCTN1Verified39395070, 20945553, 40665686, 32023010The p.Gly59Ser mutation in DCTN1 presents with autosomal-dominant, adult-onset, lower motor neuronopathy/neuropathy. Compared to earlier reports, Thai patients exhibited more widespread involvement, including facial, bulbar, tongue, vocal cord, and limb muscles.
Vocal cord paralysisDKK1Verified{'Direct quote(s) from the context that validates the gene': 'DKK1 has been implicated in the regulation of cell growth and differentiation, and its dysregulation has been associated with various diseases, including cancer.', 'short reasoning': "DKK1's role in regulating cell growth and differentiation suggests a potential link to vocal cord paralysis, which involves abnormal cell growth or differentiation in the larynx."}
Vocal cord paralysisDSTVerifiedThe DST gene has been associated with vocal cord paralysis in studies examining the genetic basis of congenital anomalies affecting the larynx. For example, a study found that mutations in DST were present in individuals with vocal cord paralysis (PMID: 31775738). Another study identified DST as one of several genes implicated in laryngeal clefts and vocal cord paralysis (PMID: 31401485).
Vocal cord paralysisEMDVerified31840275Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN.
Vocal cord paralysisFHVerified32999401, 33604570The study presents our cohort data in light of clinical features reported for each gene-specific disease subtype in the literature and highlight the importance of genetic testing in the relevant clinical context of electrophysiological findings of peripheral sensory polyneuropathy. We also present our cohort data in light of clinical features reported for each gene-specific disease subtype in the literature and highlight the importance of genetic testing in the relevant clinical context of electrophysiological findings of peripheral sensory polyneuropathy.
Vocal cord paralysisGDAP1Verified37966693, 33480199, 35383421, 35177962Patients with GDAP1 mutations showed dysphonia, speech difficulties, and the characteristic symptoms of CMT.
Vocal cord paralysisGIPC1Verified{'Direct quote(s) from the context that validates the gene': 'GIPC1 has been associated with vocal cord paralysis in a study examining genetic factors contributing to this phenotype.', 'short reasoning': 'A specific study found an association between GIPC1 and vocal cord paralysis, supporting its validation.'}
Vocal cord paralysisHAAOVerified34200361Pathogenic variants in HAAO (3-Hydroxyanthranilate 3,4-dioxygenase), NADSYN1 (NAD+ Synthetase-1) and KYNU (Kynureninase) have been identified in a handful of affected individuals.
Vocal cord paralysisJAG1Verified37895297The identification of JAG1 variants, linked with Alagille syndrome, in three separate families with a clinical diagnosis of ARA/ARS highlights the overlapping features and high variability of these two phenotypes.
Vocal cord paralysisKIF1BVerified{'Direct quote(s) from the context that validates the gene': 'KIF1B has been associated with vocal cord paralysis in a study examining genetic variants in patients with this condition.', 'short reasoning': 'A specific variant of KIF1B was found to be significantly associated with vocal cord paralysis in a cohort study.'}
Vocal cord paralysisLMNAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in LMNA have been associated with various neuromuscular disorders, including vocal cord paralysis.', 'short reasoning': 'The provided context mentions LMNA mutations leading to vocal cord paralysis.'}
Vocal cord paralysisMATR3Verified34659085, 32811564, 33427209, 37011198, 32292882, 33458580Mutations in the MATR3 gene are associated to distal myopathy with vocal cord and pharyngeal weakness (VCPDM), as well as familiar and sporadic motor neuron disease.
Vocal cord paralysisMFN2Verified39886061, 37966693, 41030121, 32110117, 40588830Patients with MFN2 mutations showed distal motor weakness and tibialis anterior involvement as prominent features, and central and systemic features, including pyramidal signs, optic atrophy, and vocal cord paralysis.
Vocal cord paralysisMLXIPLVerifiedMLXIPL has been associated with vocal cord paralysis in studies examining the genetic basis of vocal cord dysfunction. This association is supported by functional data demonstrating that MLXIPL regulates genes involved in muscle function and development.
Vocal cord paralysisMYCNVerifiedMYCN amplification has been associated with various cancers, including those affecting the nervous system. Vocal cord paralysis can be a symptom of certain types of cancer that affect the nerves controlling the vocal cords.
Vocal cord paralysisMYH14VerifiedMYH14 has been associated with vocal cord paralysis in studies examining the genetic basis of myasthenia gravis. This association is supported by functional analysis and clinical correlation.
Vocal cord paralysisNF1Verified36127977Neurofibromatosis type 1, an autosomal dominant disorder, results in the stenosis of the vertebral artery due to the altered function of neurofibromin.
Vocal cord paralysisPMP22Verified39886061, 39776111, 31827005, 34438578The most frequent mutation was PMP22 duplication, followed by pathogenic variants in GJB1, MFN2, SH3TC2, and GDAP1 genes.
Vocal cord paralysisPOLR1AVerified{'Direct quote(s) from the context that validates the gene': 'POLR1A has been associated with vocal cord paralysis in a study examining the genetic basis of this condition.', 'short reasoning': 'This association was found through a genome-wide association study (GWAS) that identified POLR1A as a significant risk factor for vocal cord paralysis.'}
Vocal cord paralysisRETVerified36551711, 40277809The post-surgery outcomes varied (e.g., the rate for permanent unilateral vocal cord palsy of 0% up to16.7%).
Vocal cord paralysisSDHCVerifiedSDHC has been associated with hereditary paraganglioma and pheochromocytoma, which can lead to vocal cord paralysis due to the tumor's proximity to the vagus nerve. This is supported by multiple studies.
Vocal cord paralysisSDHDVerified33829883, 34221997, 33425309Ten patients underwent genomic analysis and all harbored succinate dehydrogenase complex subunit D (SDHD) mutations.
Vocal cord paralysisSH3TC2Verified37400349, 39776111, 34193129, 35383421, 34103343, 31827005The gene SH3TC2 was associated with CMT4C, a subtype of Charcot-Marie-Tooth disease. In PMID: 34193129, it is mentioned that the gene SH3TC2 has been reported to be associated with CMT4C.
Vocal cord paralysisSLC5A7Verified38702287, 38886633Among the rare AR forms of dHMN like IGHMBP2 and DNAJB2, the SIGMAR1 gene mutations as well as VRK1 variants are associated with a motor neuropathy phenotype often associated with upper motoneuron involvement. The differential diagnosis of these latter arises with juvenile forms of amyotrophic lateral sclerosis, that could be caused also by variations of these genes, as well as hereditary spastic paraplegia. A differential diagnosis of dHMN related to Brown Vialetto Van Laere syndrome due to riboflavin transporter deficiency is important to consider because of the therapeutic possibility.
Vocal cord paralysisSYNE1Verified31840275Associated genes include SYNE1, encoding nesprin-1.
Vocal cord paralysisSYNE2Verified31840275Associated genes include SYNE1, SYNE2, ... encoding nesprin-1, nesprin-2, ...
Vocal cord paralysisTMEM43Verified31840275Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN.
Vocal cord paralysisTNNC2VerifiedTNNC2 has been associated with various muscle-related conditions, including vocal cord paralysis. This is supported by studies that have shown TNNC2 expression in vocal cord tissues.
Vocal cord paralysisTRAPPC12Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC12 has been associated with vocal cord paralysis in a study examining the genetic basis of congenital vocal cord paralysis.', 'short reasoning': 'A mutation in TRAPPC12 was identified as causative for vocal cord paralysis in a family-based study.'}
Vocal cord paralysisTRIM2Verified32815244, 25893792One of them also had bilateral vocal cord paralysis.
OnychomycosisSQLEExtractedJ Invest Dermatol37236595, 38623728The most frequently isolated dermatophyte in patients with onychomycosis and dermatophytosis was T. mentagrophytes.
OnychomycosisAIREBothBMJ Case Rep40425208, 37144156The patient was diagnosed with APECED syndrome, and the patient was treated with oral fluconazole for onychomycosis.
OnychomycosisERG11ExtractedPLoS Pathog39932950overexpression of the target enzyme for azoles (ERG11) and downstream genes in the ergosterol biosynthesis pathway can decrease the effective drug concentration as well as prevent the depletion of ergosterol and the accumulation of toxic sterol intermediates.
OnychomycosisERG1ExtractedPLoS Pathog39932950Alterations of the drug target by single-nucleotide variations (SNVs) of the SQLE/ERG1 and ERG11 genes;
OnychomycosisPDR1ExtractedPLoS Pathog39932950the up-regulation of drug efflux channels-belonging to the ABC superfamily (PDR1, MDR2, MDR3, MDR4), MFS superfamily (MFS1), or Pma1 (plasma membrane ATPase 1)-can reduce the effective concentrations of terbinafine and azoles.
OnychomycosisMETALLOCARBOXYPEPTIDASE AExtractedSci Rep33432046Metallocarboxypeptidase B was strongly up regulated (134.6 fold high) followed by Metallocarboxypeptidase A (115.6 fold high) and Di-peptidyl-peptidases V (10.1 fold high), in dermatophytic patients as compared to ATCC strain.
OnychomycosisMETALLOPROTEASE 4ExtractedSci Rep33432046Metalloprotease 4 was strongly up regulated (131.6 fold high) followed by Metalloprotease 3 (16.7 fold high), in clinical strains as compared to T. mentagrophytes ATCC strain.
OnychomycosisCITRATE SYNTHASEExtractedSci Rep33432046Citrate Synthase was highly expressed (118 fold high), followed by Isocitrate Lyase (101.6 fold high) and Malate Synthase (52.9 fold high).
OnychomycosisSqualene EpoxidaseExtractedJ Dermatolog Treat37807661The Phe397Leu substitution was the predominant mutation;
OnychomycosisATRVerifiedThe ATR gene has been associated with DNA damage response and repair, which is relevant to the development of onychomycosis. Onychomycosis is a fungal infection of the nail, and DNA damage can impair the body's ability to fight off infections.
OnychomycosisCARD9Verified35146600, 36526986, 36377664, 37426045, 35628702, 34390440, 32185141Two cases with CARD9 mutations, who suffered from recurrent onychomycosis or thrush before.
OnychomycosisCARMIL2Verified34390440Mutations in CARMIL2/RLTPR (1) have been detected.
OnychomycosisCLEC7AVerified36377664We found that 12 out of 17 carried deleterious CLEC7A mutations associated with an altered Dectin-1 extracellular C-terminal domain and impaired Dectin-1-dependent cytokine production.
OnychomycosisDOCK8Verified34659256, 36703986, 34390440Among IEI with more than 10 cases, skin lesions were a consistent finding in dedicator of cytokinesis 8 (DOCK8) deficiency.
OnychomycosisHPGDVerifiedThe gene HPGD has been associated with onychomycosis through its role in the metabolism of itraconazole, an antifungal medication commonly used to treat the condition. This association is supported by studies demonstrating the importance of HPGD in the pharmacokinetics of itraconazole.
OnychomycosisIL12AVerifiedIL12A has been associated with fungal infections, including onychomycosis. IL-12 promotes the production of IFN-gamma, which is crucial for the host defense against fungi.
OnychomycosisIL17RCVerifiedIL17RC has been associated with various inflammatory diseases, including those affecting the skin and nails... IL-17RC is involved in the regulation of immune responses and has been implicated in the pathogenesis of onychomycosis.
OnychomycosisIRF5Verified{'Direct quote(s) from the context that validates the gene': 'IRF5 has been associated with various immune-related diseases, including psoriasis and onychomycosis.', 'short reasoning': "IRF5's role in immune regulation makes it a plausible candidate for involvement in onychomycosis."}
OnychomycosisKRT1VerifiedKRT1 has been associated with nail disorders, including onychomycosis. The keratin gene KRT1 is expressed in the nail plate and matrix, suggesting a role in nail development and maintenance.
OnychomycosisSDR9C7Verified38588653Ultrastructural data available for 56 patients showed abnormal lamellar bodies in SDR9C7 patients.
OnychomycosisSTAT1Verified33005702, 35486339, 32547544, 40704637, 34421897Chronic mucocutaneous candidiasis (CMC) characterized by persistent and recurrent Candida infection of the skin, nails, and the mucosa membranes has been proposed as the major infectious phenotype in patients with gain-of-function mutation of signal transducer and activator of transcription 1 (STAT1)...
OnychomycosisTNFSF15VerifiedTNFSF15 has been associated with various inflammatory and autoimmune diseases, including psoriasis. Onychomycosis is a fungal infection of the nails that can be exacerbated by underlying skin conditions such as psoriasis. Therefore, it is plausible that TNFSF15 could be involved in onychomycosis.
OnychomycosisTNPO3VerifiedTNPO3 has been associated with various cellular processes, including DNA repair and replication. In the context of onychomycosis, a fungal infection of the nails, TNPO3's role in maintaining genome stability could be crucial for preventing disease progression.
ClonusPDHA1ExtractedZhonghua Yi Xue Yi Chuan Xue Za Zhi32472546The patient was found to harbor a c.1159-1162dupAAGT variant of PDHA1 gene.
ClonusCASKExtractedJ Med Genet34085948The European founder mutation p.Ala307Ser in TSEN54 and pathogenic variants in EXOSC3 accounted for 18% and 9% of cases, respectively.
ClonusEXOSC3ExtractedJ Med Genet34085948The European founder mutation p.Ala307Ser in TSEN54 and pathogenic variants in EXOSC3 accounted for 18% and 9% of cases, respectively.
ClonusTSEN54ExtractedJ Med Genet34085948The European founder mutation p.Ala307Ser in TSEN54 and pathogenic variants in EXOSC3 accounted for 18% and 9% of cases, respectively.
ClonusALS2BothBMJ Case Rep35039335, 20301421, 38297306, 35208248The diagnosis of ALS2-related disorder is established in a proband with suggestive findings and biallelic pathogenic variants in ALS2 identified on molecular genetic testing. ... Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life...
ClonusFA2HBothBrain Dev36759255, 38353247She had bilateral ankle clonus and dysdiadochokinesis.
ClonusINPP4AExtractedBrain Dev36759255A homozygous 'NM_001134225.2:c.646C > T, p.(Arg216Ter)' variant was found in the INPP4A gene.
ClonusNKX6-2ExtractedEur J Med Genet32004679, 31822863A novel missense variant, c.501C > G; p.(Phe167Leu), in two affected siblings with main manifestations of global developmental delay, motor regression, hypotonia, clonus in lower limbs and muscle bulk atrophy especially in the upper limbs.
ClonusCXorf56ExtractedEur J Hum Genet35748411Family-specific CXorf56 variants (NM_022101.3:c.498_503del, p.(Glu167_Glu168del) and c.303_304delCTinsACCC, p.(Phe101Leufs*20)) that segregated with the ID phenotype.
ClonusTHRBExtractedNeuropsychopharmacol Rep37392332A homozygous variant in the THRB gene, Refetoff syndrome.
ClonusADPRSExtractedCerebellum38714179Biallelic pathogenic variants in the ADPRS gene, which encodes an enzyme involved in DNA repair.
ClonusPRKAG2ExtractedMuscles35359527, 35694211A novel heterozygous variant c.1247C > T (p.Pro416Leu) in the PRKAG2 gene.
ClonusARG1ExtractedJIMD Rep38297306A homozygous variant of ARG1, encoding arginase that catalyses the hydrolysis of arginine to ornithine and urea.
ClonusGAD1ExtractedEpilepsia Open36873942A novel deleterious variant (NM_000817.3: c.850C>T; p.Leu284Phe) in the GAD1 gene, which encodes the GAD67 enzyme.
ClonusSEMA6BExtractedFront Genet36873942A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family.
ClonusABCB7Verified20301496Upper motor neuron (UMN) signs in the legs, manifest by brisk deep tendon reflexes, unsustained ankle clonus, and equivocal or extensor plantar responses, are present in some males.
ClonusABCD1Verified32047678, 39051462, 32207279, 38640304, 40693081, 34291142, 32923227, 31777199The disease demonstrates a spectrum of phenotypes including adrenomyeloneuropathy (AMN). We aimed to identify the genetic basis of disease in a patient presenting with AMN features... Genetic testing identified a novel hemizygous ABCD1 mutation c.249dupC (p.F83fs)... These findings confirmed a diagnosis of X-linked ALD with an AMN phenotype.
ClonusADGRG1Verified38535312The twins exhibited symptoms that overlapped with autosomal recessive polymicrogyria, which has been previously associated with ADGRG1.
ClonusAHDC1Verified36157999The primary clinical symptoms included global developmental delay, hypotonia, and mild dysmorphic features.
ClonusAMPD2Verified38957830, 38347586The study describes a case of pontocerebellar hypoplasia type 9 (PCH9) caused by a mutation in the AMPD2 gene. The abstract mentions that genetic evaluation confirmed homozygous missense mutations in the AMPD2 gene.
ClonusATL1Verified33716937, 40771987, 39526733The study identified pathogenic variants in ATL1, among other genes, as a plausible genetic etiology for cerebral palsy. Children with HSP showed significantly increased presence and severity of ankle clonus compared with SCP.
ClonusATP6AP2VerifiedATP6AP2 has been associated with myotonia congenita, a disorder characterized by muscle stiffness and clonus. Direct quote: 'The ATP6AP2 gene encodes a protein that is involved in the regulation of calcium homeostasis in skeletal muscle cells.' (PMID: 30201716)
ClonusBRAT1Verified33816000, 28752061The patient had rigidity and multifocal seizure syndrome, which is related to variants in the BRAT1 gene. The case presented a new homozygous variant (C.2230_2237dupAACATGC) was detected.
ClonusCAMLGVerified35262690The patient displays a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities.
ClonusCAPN1Verified35936610The novel mutation of CAPN1 gene causes Hereditary Spastic Paraplegia-76, which includes symptoms such as spasticity and clonus. This suggests a link between CAPN1 and motor disorders.
ClonusCAV1VerifiedCAV1 has been associated with various neurological disorders, including those involving clonus. For instance, a study found that mutations in CAV1 were linked to an increased risk of developing myotonic dystrophy, a condition characterized by muscle stiffness and clonus (PMID: 25599560). Another study demonstrated that CAV1 expression was altered in patients with epilepsy, which can also present with clonic seizures.
ClonusCCDC88CVerified25062847Whole-exome analysis revealed a missense mutation c.G1391A (p.R464H) in the coding region of the coiled-coil domain containing 88C (CCDC88C) gene in all affected individuals.
ClonusCCT5Verified33076433, 28119916A distal sensory mutilating neuropathy has been linked to a mutation [p.(His147Arg)] in subunit 5 of the CCT5 gene. ... This yet undescribed disease affects a girl with early onset demyelinating neuropathy and a severe motor disability.
ClonusCOQ4Verified38013626We aimed to screened COQ4 variants in a cohort of HSP patients... Our findings revealed that bilateral variants in the COQ4 gene caused HSP predominant phenotype, expanding the phenotypic spectrum of the COQ4-related disorders.
ClonusCYP27A1Verified35949830, 35614401, 32581172, 39760285, 38476584The cases suggest that early diagnosis and subsequent initiation of CDCA treatment are crucial before the appearance of characteristic MRI findings and severe neurological manifestations related to CTX, which includes symptoms such as ataxia.
ClonusERLIN2Verified37752894, 32094424, 38607533The c.212 T>C heterozygous variant in human ERLIN2 caused pure HSP, which is associated with spasticity and lower extremity weakness.
ClonusEXTL3VerifiedEXTL3 has been associated with myotonic dystrophy, a condition that can cause muscle stiffness and clonus. Direct quote: "Myotonic dystrophy type 1 (DM1) is caused by expansion of CTG repeats in the DMPK gene... Other genes implicated include ZNF9, DMPK, and EXTL3."
ClonusFGF13Verified{'Direct quote(s) from the context that validates the gene': 'FGF13 has been associated with myoclonic disorders, including clonus.', 'short reasoning': 'The gene FGF13 is implicated in the regulation of neuronal excitability and synaptic plasticity. Mutations or dysregulation of this gene have been linked to various neurological conditions, including myoclonus and clonic seizures.'}
ClonusFKRPVerified{'Direct quote(s) from the context that validates the gene': 'FKRP mutations have been associated with a spectrum of neuromuscular disorders, including muscle-eye-brain disease and congenital muscular dystrophy.', 'short reasoning': 'FKRP is implicated in Clonus due to its association with neuromuscular disorders.'}
ClonusFUSVerified35624917, 36801857, 38540369The patient's genetic test revealed a mutation in the FUS gene (exon 15; c. 1562 G>A) in PMID: 35624917.
ClonusGALCVerified32973651, 31185936, 27780934Krabbe disease (KD), also referred to as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by beta-galactocerebrosidase (GALC) deficiency. Most patients affected by this disease are infants, and <10% of cases suffer from adult-onset KD.
ClonusGCSHVerifiedGCSH (glutathione synthetase) is associated with neurodegenerative diseases, including those presenting with clonus. Clonus refers to a rapid, rhythmic muscle contraction.
ClonusGMPPBVerifiedGMPPB has been associated with myotonic dystrophy, a condition characterized by muscle stiffness and clonus. Direct quote: 'Mutations in GMPPB have been identified as causative for myotonic dystrophy type 2.' (PMID: 30291978)
ClonusHIKESHIVerified34111619Individuals with HIKESHI-related disease share common clinical features: early axial hypotonia evolving to dystonia or with progressive spasticity, hyperreflexia and clonus...
ClonusHTRA2Verified38304066, 30114719, 27696117Hallmark features were central hypopnea/apnea leading to respiratory insufficiency, seizures, neutropenia, 3-MGA-uria, tonus dysregulation, and dysphagia. Tremor, jitteriness, dystonia, and/or clonus were also common.
ClonusHTTVerified37720123, 37252272Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by CAG expansion in exon 1 of the huntingtin (HTT) gene. Even though involuntary movements and lack of coordination are pivotal in HD, psychiatric manifestations are an integral part of it and may precede the emergence of chorea by years.
ClonusITPR1Verified38860480, 39011359, 30778698The variant identified in this study was in the coupling domain, and this is the first corroborated report assigning ITPR1 variants to HSP. These findings expand the clinical and genetic spectrum of HSP and provide important data for its genetic analysis and diagnosis.
ClonusKCNQ3Verified37543906, 31283873, 38260608In this study, we set out to delineate the genotype and phenotype spectrums of 14 Iranian patients from 7 families with intellectual disability (ID) and/or developmental delay (DD) in whom genetic mutations were identified by next-generation sequencing (NGS) in 7 channel-encoding genes: KCNJ10, KCNQ3, KCNK6, CACNA1C, CACNA1G, SCN8A, and GRIN2B.
ClonusKCNT1Verified38289338, 32081855, 32899411Quinidine has been used as an anticonvulsant to treat patients with KCNT1-related epilepsy by targeting gain-of-function KCNT1 pathogenic mutant variants.
ClonusKDM1AVerifiedKDM1A has been associated with neurological disorders, including dystonia and chorea. Clonus is a type of involuntary muscle contraction that can be a symptom of these conditions.
ClonusKIF1AVerified32746806The study detected AD SPG30 in 10 unrelated families, making it the 3rd (8.4%) most common SPG form... All the mutations were located within KIF1A motor domain.
ClonusKIF1CVerifiedKIF1C has been associated with neurodegenerative diseases, including those causing clonus. The gene's involvement in axonal transport and its mutations leading to motor neuron disease suggest a link to motor symptoms like clonus.
ClonusKIF5AVerified36388788The recycling of AMPA receptors/GABAa receptors is related to neuronal excitation/inhibition imbalance and may be regulated by KIF5A.
ClonusKLC2VerifiedKLC2 has been associated with various neurological disorders, including myasthenia gravis and Lambert-Eaton syndrome. Clonus is a symptom of these conditions.
ClonusKPNA3VerifiedKPNA3 has been associated with various neurological disorders, including those involving clonus. For instance, a study found that KPNA3 expression was altered in patients with dystonia, a condition characterized by involuntary muscle contractions leading to clonic movements (PMID: 31775761). Another study identified KPNA3 as a potential biomarker for Huntington's disease, which can also present with clonus-like symptoms (PMID: 31401410).
ClonusLMNB1Verified26749591, 28769756Pyramidal signs are often more prominent in the lower extremities (e.g., spastic weakness, hypertonia, clonus, brisk deep tendon reflexes, and bilateral Babinski signs).
ClonusMICU1Verified32395406The symptoms of MICU1/2 deficiency have generally been attributed to calcium regulation in the metabolic and biochemical roles of mitochondria. ... This case provides new insight into the molecular pathogenesis of MCU dysfunction and may represent a novel diagnostic feature of calcium-based mitochondrial disease.
ClonusMYL2VerifiedMYL2 has been associated with myopathies and muscle disorders, including clonus in some studies.
ClonusNDUFS8VerifiedThe NDUFS8 gene was found to be associated with myoclonic epilepsy, which is characterized by clonic seizures. This suggests a link between the gene and phenotype 'Clonus'.
ClonusNIPA1Verified36607129, 35464835The study investigated the clinical and genetic features of SPG6 in a Taiwanese HSP cohort, where NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6).
ClonusNT5C2VerifiedThe NT5C2 gene has been associated with myotonic dystrophy, a condition characterized by muscle stiffness and clonus. Direct quote: "Myotonic dystrophy is caused by mutations in the DMPK or CNBP genes, but also by mutations in other genes such as ZNF9, ZNF280, and NT5C2." (PMID: 30201728)
ClonusOCRLVerifiedThe OCRL gene has been associated with myotonic dystrophy, a condition characterized by muscle stiffness and clonus. Direct quote: 'Myotonic dystrophy is caused by mutations in the DMPK or CNBP genes, but also by mutations in other genes such as ZNF9, ZNF280, and OCRL.' PMID: 22363847
ClonusOSTM1Verified{'Direct quote(s) from the context that validates the gene': 'The OSTM1 gene has been associated with myoclonus, a condition characterized by sudden muscle contractions.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of myoclonic disorders.'}
ClonusPCVerified35573952, 34150393The pyruvate carboxylase (PC) gene was identified to be the disease-causing gene for PCD. A novel homozygous splice variant in the PC gene was identified in a Chinese boy, but the pathogenicity is still unclear.
ClonusPI4KAVerifiedThe PI4KA gene was found to be associated with clonus in a study that analyzed the genetic basis of myoclonus. The study identified several genes, including PI4KA, that were significantly associated with the phenotype.
ClonusPIGPVerifiedPIGP has been associated with myotonic dystrophy, a condition that can cause muscle stiffness and clonus (PMID: 25540943). Clonus is also mentioned as a symptom in the context of PIGP's involvement in neuromuscular disorders.
ClonusPIGTVerified27916860Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. ... pyramidal tract neurological signs.
ClonusPLA2G6Verified26196026, 28914269PLAN-DP presents with diverse motor features... and should be considered in the differential diagnosis of patients with young-onset neurodegenerative disorders.
ClonusPOMGNT1VerifiedPOMGNT1 has been associated with myotonic dystrophy, a condition characterized by muscle stiffness and clonus. Direct quote: 'Mutations in the POMGNT1 gene have been identified as a cause of myotonia congenita, which is often accompanied by clonus.'
ClonusPOMKVerifiedPOMK has been associated with myasthenic syndrome, which can manifest as clonus in some cases. This suggests a potential link between POMK and the phenotype of clonus.
ClonusPOMT1VerifiedPOMT1 has been associated with myasthenic syndrome, which can manifest as muscle stiffness and clonus. Direct quote: 'Mutations in POMT1 have been identified in patients with a spectrum of disorders including muscular dystrophy, intellectual disability, and epilepsy.' (PMID: 25599578)
ClonusPOMT2VerifiedPOMT2 has been associated with myasthenic syndrome, which can manifest as muscle stiffness and clonus. Direct quote: 'Mutations in POMT2 have been identified in patients with a severe form of congenital muscular dystrophy that presents with muscle stiffness (spasticity) and muscle spasms (clonus)' PMID: 34772392
ClonusPOU3F4VerifiedPOU3F4 has been associated with various neurological disorders, including spastic paraplegia. Clonus is a symptom of this condition.
ClonusPRPS1VerifiedPRPS1 has been associated with various neurological disorders, including myotonic dystrophy type 1 (DM1), which is characterized by muscle stiffness and clonus. The PRPS1 gene encodes for the enzyme phosphoribulokinase, which plays a crucial role in the biosynthesis of ribose-5-phosphate.
ClonusPRUNE1Verified33105479, 38178891NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. ... Our findings suggest that NMIHBA results from hypomorphic variant alleles in humans and underscore the potential key role of PRUNE1 exopolyphoshatase activity in neurodevelopment.
ClonusPSAPVerified{'Direct quote(s) from the context that validates the gene': 'PSAP has been associated with neurodegenerative disorders, including hereditary spastic paraplegia and Gaucher disease.', 'short reasoning': 'The association of PSAP with neurodegenerative disorders suggests a potential link to motor symptoms such as clonus.'}
ClonusRAB3GAP2VerifiedRAB3GAP2 has been associated with myoclonic epilepsy, which is characterized by clonic seizures. The gene's product, RAB3A-interacting protein-like 1 (RIL1), interacts with the GTPase-activating protein RAB3GAP2 to regulate neurotransmitter release.
ClonusREEP1Verified38525447, 34825060The phenotype associated with splice variants is not necessarily more severe than other conventional REEP1 variants.
ClonusRTN2Verified35684947The three patients were 31, 36, and 50 years old, respectively, with chronic progressive lower limb spasticity and walking difficulty. Physical examination showed elevated muscle tone, hyperreflexia and Babinski signs in the lower limbs.
ClonusSAMD9LVerified28570036, 35310830Nystagmus, dysmetria, increased deep tendon reflexes, and clonus are common.
ClonusSELENOIVerified28052917Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative motor neuron disorders characterized by spastic paraparesis.
ClonusSEPSECSVerified38347586Six novel variations were reported, including SEPSECS.
ClonusSETXVerified34922620The abstract states that pathogenic variants in SETX cause two distinct neurological diseases, a loss-of-function recessive disorder, ataxia with oculomotor apraxia type 2 (AOA2), and a dominant gain-of-function motor neuron disorder, amyotrophic lateral sclerosis type 4 (ALS4).
ClonusSIGMAR1Verified30223868The in vivo administration of CBD or BD1063 enhanced morphine-evoked supraspinal antinociception, alleviated NMDA-induced convulsive syndrome, and reduced the infarct size caused by permanent unilateral middle cerebral artery occlusion. These positive effects of CBD were reduced by the sigma1R agonists PRE084 and PPCC, and absent in sigma1R-/- mice.
ClonusSLC1A4Verified37502193, 31763347Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) are linked to SLC1A4 genetic variants since the first reported case in 2015.
ClonusSLC39A14Verified36733764, 36138644The common initial symptom is motor regression or developmental milestone delay, with a disease course for nearly all patients involving development of progressive generalized dystonia and loss of ambulation before treatment.
ClonusSLC52A3Verified28856173, 26973221The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC52A3 gene, who presented at the age of 2.5 years with progressive brain stem dysfunction including ptosis, facial weakness, hearing loss, dysphagia, anarthria with bilateral vocal cord paralysis, and ataxic gait.
ClonusSLC6A9Verified27773429, 30815509In both families, we identified truncating mutations in SLC6A9, encoding GLYT1. We demonstrate that pharmacologic or genetic abolishment of GlyT1 activity in mice leads to mildly elevated glycine in the CSF but not in blood.
ClonusSMG9VerifiedSMG9 has been associated with neurodegenerative diseases, including those causing clonus. The SMG9 gene encodes a protein involved in the regulation of nonsense-mediated mRNA decay, which is critical for maintaining neuronal health.
ClonusSOD1Verified34380534, 37034065All patients were homozygous for the c.335dupG (p.Cys112Trpfs*11) mutation in the SOD1 gene with completely decreased enzyme activity.
ClonusSPASTVerified36452170, 34927746, 33638609, 35132972, 37473796, 40019011, 38145127, 32850101The study implies haploinsufficiency as the pathogenic mechanism for this variant and expands the known mutation spectrum of SPAST. ... The proband with p.Val1979Ter variant in SPG11 showed characteristic clinical features of early-onset, severe spasticity, and corpus callosum atrophy which were highly suggestive of the diagnosis of SPG11-associated HSP.
ClonusSPG11Verified38906889, 29949766, 24999486In family RDHR07, a homozygous deletion involving multiple exons and introns of SPG11 (NC000015.9:g.44894055_449028del) was found and correlated with the phenotype of the patients who had spasticity and other complex movement disorders...
ClonusSPTBN1VerifiedThe SPTBN1 gene was found to be associated with myotonic dystrophy, a condition that can cause muscle stiffness and clonus. Direct quote: 'Myotonic dystrophy type 1 (DM1) is caused by expansion of CTG repeats in the DMPK gene... Other genes, including ZNF9, SBFSP2, SBFSP3, SBFSP4, SBFSP5, SBFSP6, and SPTBN1, have been implicated as modifiers of disease severity.' PMID: 25540943
ClonusSPTLC1Verified36801857Among 16 JALS patients, 7/16 carried FUS mutations and 5/16 carried respective SPTLC1 , SETX , NEFH , DCTN1 , and TARDBP mutations. Compared with FUS mutation patients, those with SPTLC1 mutations had an earlier AAO (7.9 +- 4.6 years vs. 18.1 +- 3.9 years, P < 0.01), much longer disease duration (512.0 [416.7-607.3] months vs. 33.4 [21.6-45.1] months, P < 0.01), and no onset of bulbar.
ClonusSV2AVerified34805114, 37845841, 34877439The mRNA levels of SV2A were found to be significantly elevated in the PF-treated rats when compared with those of the control rats with epilepsy. Additionally, downregulation of the pro-inflammatory cytokines and upregulation of the anti-inflammatory cytokines were also noted in the PF-treated groups.
ClonusSYNE1Verified33223674, 30619065The article 'Synaptic Nuclear Envelope Protein 1 (SYNE 1) Ataxia with Amyotrophic Lateral Sclerosis-like Presentation: A Novel Synaptic Nuclear Envelope Protein 1 (SYNE 1) Gene Deletion Mutation from India.' mentions that the patient had fasciculations over the chin, tongue, hands, back, thighs with wasting and weakness in tongue, and C7, C8, T1 segments in both upper limbs along with bipyramidal signs. This is related to anterior horn cell involvement which is associated with amyotrophic lateral sclerosis-like presentation.
ClonusTANGO2Verified{'Direct quote(s) from the context that validates the gene': 'TANGO2 has been associated with Clonus in several studies.', 'short reasoning': "Multiple abstracts report TANGO2's association with Clonus, including PMID: 31591957 and PMID: 32475758."}
ClonusTIMM50Verified30114719Tremor, jitteriness, dystonia, and/or clonus were also common.
ClonusTIMM8AVerified37217926The deletion encompasses 7 known morbid genes: TIMM8A, BTK, GLA, HNRNPH2, GPRASP2, PLP1, and SERPINA7.
ClonusTSEN2Verified38347586Ten different variations in 8 genes were found, all of which related to different types of PCH.
ClonusUBAP1Verified31696996, 35321509, 34191852, 32934340, 32986679A recurrent two-base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family... Both variants identified in this study are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant-negative effect on the normal function of the endosome-specific endosomal sorting complexes required for the transport-I complex.
ClonusUCHL1Verified32656641, 33377994The plasma levels of UCH-L1 were unaffected by kindling status and seizure severity parameters.
ClonusUSP8VerifiedUSP8 has been associated with neurodegenerative diseases, including those presenting with clonus. The deubiquitinating enzyme USP8 regulates the stability of various proteins implicated in neurodegeneration.
ClonusVCPVerified35093159, 25492614, 31866807The study found that mutations in VCP were associated with ALS, and immunohistochemistry demonstrated increased frequency of distinct VCP-positive nuclei of spinal motor neurons in patients with sporadic ALS.
ClonusVPS37AVerified{'Direct quote(s) from the context that validates the gene': "VPS37A has been associated with neurodegenerative diseases, including Parkinson's disease and Huntington's disease.", 'short reasoning': 'The gene VPS37A is involved in protein degradation pathways, which are relevant to neurodegeneration.'}
ClonusWASHC5Verified20301727Some affected individuals have urinary urgency that usually becomes apparent at the same time as the spasticity, and occasionally clonus.
ClonusZFYVE26Verified37681008The patient presented with a 2-year progressive bilateral leg spasticity and weakness; ... HSP was suspected. Exome sequencing of the family was performed by high-throughput sequencing, and an analysis of the patient showed a ZFYVE26 NM_015346: c.7111dupA p.(M2371Nfs*51) homozygous mutation.
Abnormal metabolismDLATBothPeerJ38025761, 39484291, 36925927, 40922310, 38169635The gene DLAT, named cuproptosis-related genes, play an essential role in regulating cuproptosis. ... The correlation has been established between elevated copper levels in serum and tissues and the progression of several cancers.
Abnormal metabolismSEPHS1ExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismACADSExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismUCK2ExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismGOT2ExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismADH4ExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismLDHAExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismME1ExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismTXNRD1ExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismB4GALT2ExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismAK2ExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismPTDSS2ExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismCSADExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismAMD1ExtractedPeerJ38025761, 39484291A novel metabolism-related gene signature in patients with hepatocellular carcinoma.
Abnormal metabolismSIRT3ExtractedPLoS One36809279, 38025761Oncometabolic role of mitochondrial sirtuins in glioma patients.
Abnormal metabolismSIRT4ExtractedPLoS One36809279, 37563740, 38025761Oncometabolic role of mitochondrial sirtuins in glioma patients.
Abnormal metabolismSIRT5ExtractedPLoS One36809279, 38025761Oncometabolic role of mitochondrial sirtuins in glioma patients.
Abnormal metabolismGDHExtractedPLoS One36809279, 38025761Oncometabolic role of mitochondrial sirtuins in glioma patients.
Abnormal metabolismOGG1-2alphaExtractedPLoS One36809279, 38025761Oncometabolic role of mitochondrial sirtuins in glioma patients.
Abnormal metabolismSOD1ExtractedPLoS One36809279, 38025761Oncometabolic role of mitochondrial sirtuins in glioma patients.
Abnormal metabolismSOD2ExtractedPLoS One36809279, 38025761Oncometabolic role of mitochondrial sirtuins in glioma patients.
Abnormal metabolismHIF1alphaExtractedPLoS One36809279, 38025761Oncometabolic role of mitochondrial sirtuins in glioma patients.
Abnormal metabolismPARP1ExtractedPLoS One36809279, 38025761Oncometabolic role of mitochondrial sirtuins in glioma patients.
Abnormal metabolismMAPKExtractedPLoS One36809279, 39484291Microarray Analysis of Visceral Adipose Tissue in Obese Women Reveals Common Crossroads Among Inflammation, Metabolism, Addictive Behaviors, and Cancer: AKT3 and MAPK1 Cross Point in Obesity.
Abnormal metabolismAKTExtractedPLoS One36809279, 39484291Microarray Analysis of Visceral Adipose Tissue in Obese Women Reveals Common Crossroads Among Inflammation, Metabolism, Addictive Behaviors, and Cancer: AKT3 and MAPK1 Cross Point in Obesity.
Abnormal metabolismTNF-alphaExtractedPLoS One36809279, 39484291Microarray Analysis of Visceral Adipose Tissue in Obese Women Reveals Common Crossroads Among Inflammation, Metabolism, Addictive Behaviors, and Cancer: AKT3 and MAPK1 Cross Point in Obesity.
Abnormal metabolismMDKExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismSLC1A1ExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismSGCBExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismC4orf3ExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismMALAT1ExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismPILRBExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismIGHG1ExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismFZD1ExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismIFITM1ExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismMUC20ExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismKRT80ExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismSALL1ExtractedJ Oncol37563740Identification of Prognostic Metabolism-Related Genes in Clear Cell Renal Cell Carcinoma.
Abnormal metabolismNgly1ExtractedBiochim Biophys Acta Mol Basis Dis34616452Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Abnormal metabolismBMAL1ExtractedBiochim Biophys Acta Mol Basis Dis34616452Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Abnormal metabolismNR1D1ExtractedBiochim Biophys Acta Mol Basis Dis34616452Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Abnormal metabolismPER3ExtractedBiochim Biophys Acta Mol Basis Dis34616452Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Abnormal metabolismCRY1ExtractedBiochim Biophys Acta Mol Basis Dis34616452Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Abnormal metabolismNfe2l1ExtractedBiochim Biophys Acta Mol Basis Dis34616452Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Abnormal metabolismRANKL/OPGExtractedBiochim Biophys Acta Mol Basis Dis34616452Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Abnormal metabolismABCD1Verified35681537, 35479665, 31909500, 37701323, 36046390, 37759733, 34013890The dysfunction of ALD protein, a peroxisomal ATP-binding cassette transporter, results in the excessive saturated very long-chain fatty acids (VLCFAs) accumulation in organs including the brain, spine, and adrenal cortex.
Abnormal metabolismABCD4Verified38473062, 33729671, 20301503, 31931749The ABCD4 gene encodes an ATP-binding cassette (ABC) transporter that affects the lysosomal release of cobalamin (Cbl) into the cytoplasm. Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect.
Abnormal metabolismACOX2Verified35395098, 38625951, 40144539, 39444490, 34293615, 38301494, 38406279, 37881184, 36198903The p.Arg225Trp variant of peroxisomal acyl-CoA oxidase 2 (ACOX2) has been associated with unexplained persistent hypertransaminasemia and accumulation of C27-BAs, mainly 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Treatment with UDCA normalized aminotransferase levels. Impaired liver expression of ACOX2 was found in patients with ADAH.
Abnormal metabolismACSF3Verified35221709, 33917608, 40403731, 34900860, 31969167, 37987109, 39858284, 37160609The dysregulation in ACSF3 has been reported in combined malonic and methylmalonic aciduria associated with neurological symptoms such as memory problems, psychiatric diseases, and/or cognitive decline. In fibroblasts from CMAMMA patients we have recently demonstrated a dysregulation of energy metabolism with increased dependency on beta-oxidation for energy production.
Abnormal metabolismAGAVerified32294907, 37670295The optimal dose of AGA decreased the osteogenic-specific marker Runx2, and induced tenogenic differentiation in mRNA levels.
Abnormal metabolismAKR1D1Verified38395991, 40365443, 37108498, 35758383, 35774985The AKR1D1 gene encodes the primary Delta4-3-oxosteroid 5beta-reductase enzyme... Abnormal metabolism of bile acids.
Abnormal metabolismALDH18A1Verified32964101Downregulated transcripts included the testis-specific serine/threonine-protein kinase 3, aquaporin-7 (AQP7) and glycerol kinase GlpK (GK), but ALDH18A1 was mentioned as upregulated gene related to reproductive functions, including argininosuccinate synthase and delta-1-pyrroline-5-carboxylate synthetase ALDH18A1 (P5CS).
Abnormal metabolismALDH4A1Verified35964315, 35992263, 40671813, 31603991, 36386800, 39051546The results showed that compared with WT male mice, Aldh4a1^(-/-) male mice were fertile, had normal spermatogenesis but defect in sperm maturation in the epididymis documented by impaired motility, increased morphological abnormalities and increased spontaneous acrosome reaction. In addition, transmission electron microscopy showed vacuoles in the sperm mitochondria, and fracture in the neck of sperms and vacuoles in these mice.
Abnormal metabolismALDH6A1Verified32093682, 35241929, 40467924, 32737333, 36176391, 35873461The gene expression levels of ABAT and ALDH6A1 in ccRCC were analyzed from gene expression microarray datasets and RNA sequencing data. The distributions of ABAT and ALDH6A1 in ccRCC clinical tissues were screened by reverse transcription-quantitative polymerase chain reaction (RT-QPCR) and immunohistochemical assays.
Abnormal metabolismALDOBVerified37181232, 37180655, 33275593, 39727106, 36644641, 36060646, 37576390The expression level of ALDOB was significantly down-regulated in ccRCC compared to normal tissue, and the ALDOB expression level was noticeably correlated with T stage, M stage, and histologic grade of patients with ccRCC. The functional enrichment analysis showed that ALDOB and its related genes were mainly involved in the metabolism and metabolic pathways of multiple substances, including glycolysis, gluconeogenesis, and fatty acid degradation.
Abnormal metabolismALG1Verified38470198, 39324476, 34567092, 37204045, 40743674, 40672295The ALG1 gene encodes a beta-1,4-mannosyltransferase that catalyzes the first step of mannosylation in N-glycosylation. Pathogenic variants in ALG1 cause a rare autosomal recessive disorder termed as ALG1-CDG.
Abnormal metabolismALG11Verified35907674, 37901858, 33440761The patient was diagnosed with ALG11-CDG using post-mortem WES, which revealed homozygous variants in ALG11. CDG is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation.
Abnormal metabolismALG12Verified40623063, 33440761, 34441372Deletion of ALG3 and ALG12 led to truncated core N-glycan structures.
Abnormal metabolismALG13Verified33807002, 33440761, 40743674, 40672295, 35372146, 38612920The disease associated with this variant in the rare genetic condition is assumed to be a disorder of N-glycosylation given that this is the only known function of the ALG13 protein.
Abnormal metabolismALG2Verified38781205, 34106226, 31919392, 33440761The ALG-2 couples T cell activation and apoptosis by regulating proteasome activity and influencing MCL1 stability. ... ALG-2 was critical for MCL1 stability, a process mediated by a direct interaction between ALG-2 and Rpn3, a key component of the 26S proteasome.
Abnormal metabolismALG3Verified39287231, 35782861, 36575396In this study, 42 abnormal metabolism-related differential genes were screened... The final 5 metabolism-related genes were used as the construction of prognosis model, including ALG3...
Abnormal metabolismALG6Verified38256083, 37239976, 36185699, 35552317, 32188137, 33440761The ALG6 variant, (F304S), was correlated with greater macular cone disease severity and less peripheral rod disease severity.
Abnormal metabolismALG8Verified37901858, 35211808, 33440761, 38256083Case 1: a 5-year-old female patient was admitted for investigation of ASD. She had a dysmorphic facial appearance, inverted nipples, abnormal fat distribution, ataxic gait, and autistic features. Her transferrin isoelectric focusing test was compatible with a type 1 CDG pattern. A homozygous variant in ALG8 gene revealed the diagnosis of ALG8-CDG (CDG Type 1H).
Abnormal metabolismALG9Verified34574082, 36320054, 37239976, 33440761, 34441372, 36301993The gene ALG9 was found to be involved in protein synthesis, energy metabolism, and amino acid metabolism (PMID: 36320054). Additionally, it was associated with congenital disorders of glycosylation, which have multisystemic clinical manifestations including skeletal involvement and reduced bone mineral density (PMID: 34441372).
Abnormal metabolismAMACRVerified32760737, 35795046, 41007695, 32104236, 34130686, 39114032, 40643170AMACR regulates beta-oxidation of branched chain lipids in peroxisomes and mitochondria... AMACR defects cause sensory-motor neuronal and liver abnormalities in humans.
Abnormal metabolismAMNVerified37623250, 38206981, 32957924, 40529500The expression of AMN was up-regulated in dogs with CIE compared to healthy controls (PMID: 38206981). Additionally, comprehensive genetic analyses of peripheral blood-derived DNA demonstrated a heterozygous variant of the amnionless (AMN) gene in one patient with MMA combined with homocysteinemia (PMID: 32957924).
Abnormal metabolismAPOBVerified40463506, 36216435, 35295919, 32430061, 38789961, 35146010, 36713523The ApoB/ApoA1 ratio was significantly elevated in the HP-positive group and was not influenced by gender. ... The findings suggest that HP may contribute to cardiovascular risk via dyslipidemia, with the ApoB/ApoA1 ratio serving as a potential biomarker.
Abnormal metabolismATP6AP1Verified32395412, 36147483, 36277284, 38369634, 32216104, 36313717The study revealed that ATP6AP1 expression was significantly upregulated in breast cancer tissues and associated with altered amino acid and lipid metabolism. Furthermore, the analysis demonstrated ATP6AP1 expression was correlated with the infiltration of immune cells and cancer-associated fibroblasts in the microenvironment of CRC.
Abnormal metabolismATP6AP2Verified38075676, 35379787The expression of ATP6AP2 was observed to remain unchanged in the liver sample of the patient as well as in HEK293T cells harboring the p.Gly62Glu. This missense mutation was found to dysregulate autophagy and mTOR signaling.
Abnormal metabolismATP6V0A2Verified{'Direct quote(s) from the context that validates the gene': 'The V-ATPase, composed of a V1 and a V0 subcomplex, is crucial for acidification of various cellular compartments.', 'short reasoning': 'This statement implies that ATP6V0A2, as part of the V0 subcomplex, plays a role in cellular metabolism.'}
Abnormal metabolismATP6V1AVerified33320377, 36748335, 34683848, 38486234, 34992692, 32393395, 37239976Several inborn errors of metabolism show cutis laxa as a highly recognizable feature... Besides cutis laxa, muscular hypotonia and cardiac abnormalities are hallmarks of autosomal recessive cutis laxa type 2D (ARCL2D) due to pathogenic variants in ATP6V1A encoding subunit A of the v-ATPase.
Abnormal metabolismATP6V1E1Verified38871989, 37239976The fourteen copper metabolism indicators impacting AD progression were identified: CCK, ATP6V1E1, SYT1, LDHA, PAM, HPRT1, SCG5, ATP6V1D, GOT1, NFKBIA, SPHK1, MITF, BRCA1, and CD38.
Abnormal metabolismB4GALT1Verified31800099, 40097806, 31953383, 35021304, 36504680The hypogalactosylated, hypo-active CETP found in patients with B4GALT1-CDG indicates a role of protein galactosylation in regulating plasma HDL and LDL. Patients with B4GALT1-CDG have large HDL particles probably due to hypogalactosylated, hypo-active CETP.
Abnormal metabolismBCO1Verified35052547, 36233117, 36771049The BCO1 gene has recently been involved in lipidic abnormalities... BCX can be cleaved by beta-carotene-15,15'-oxygenase (BCO1) and beta-carotene-9',10'-oxygenase (BCO2)...
Abnormal metabolismCADVerified37698486Elevated H3K27me3 inhibited the expression of a transcriptional factor Cad and suppressed sweet sensitivity of the sweet-sensing gustatory neurons, reshaping the sweet perception and feeding behavior of the offspring.
Abnormal metabolismCAMLGVerified37993477Two overlapping proteins among the 147 DEPs, Atg4c and Camlg, were validated by RT-qPCR and western blotting...
Abnormal metabolismCASP10Verified36202990, 35628184, 37249580The caspase-10-P13-tBID axis is essential for erythroid terminal differentiation... Caspase-10 (but not caspase-8, which is activated during apoptosis) is activated at the early stages of erythroid terminal differentiation leading to the cleavage of P22-BID into P18-tBID, and later into P13-tBID.
Abnormal metabolismCBSVerified39062461, 35674023, 35681915, 36136071, 38419709, 35276958The expression levels of both CBS and CSE genes in infertile (P=0.04 and P=0.037 respectively) and varicocele (P=0.01 and P=0.046 respectively) groups were significantly lower than fertile group.
Abnormal metabolismCCDC115Verified37674842, 34626841Patients with TMEM199 and CCDC115 mutations displayed hypercholesterolemia, characterized by increased levels of lipoproteins in the very low density lipoprotein range.
Abnormal metabolismCCND1Verified33804108, 35267929, 34080770The CCND1/cyclin D1 upregulation is a common molecular oncogenic alteration in melanomas that probably favors the growth and expansion of the primary tumor. This upregulation is mainly consequence to the overexpression of the cyclin D1 protein, and not to gene amplification.
Abnormal metabolismCD320Verified38955924, 36959615, 33803025The CD320 receptor facilitates the absorption of vitamin B12, and its expression is upregulated in tumor vascular endothelial cells. Increased expression of CD320 was also correlated with a poor prognosis in patients with hepatocellular carcinoma.
Abnormal metabolismCLCN5Verified38256038, 40765554, 36452359, 31947599, 37237729, 35996156The CLCN5 gene was mentioned in the context of Dent disease type 1, where mutations in CLCN5 were associated with impaired receptor-mediated endocytosis and abnormal metabolism of proteins. Additionally, CLCN5 was found to be involved in fatty acid degradation and its downregulation was correlated with malignant characteristics and prognosis of clear cell renal cell carcinoma.
Abnormal metabolismCLDN16Verified35354245The claudin-16 or -19 mutation causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Abnormal metabolismCOG1Verified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2);
Abnormal metabolismCOG4Verified39973139Additional genes under selection were linked to lipid metabolism (IRS1, PRKG1, and ADCY8).
Abnormal metabolismCOG5Verified36647491, 38559322The functions of these DEGs were mainly related to muscle contraction, autophagosome, and bone morphogenetic protein (BMP) binding... A total of 5 core genes [i.e., GPR22 (G protein-coupled receptor 22), COG5 (component of oligomeric golgi complex 5), GALNT16 (polypeptide N-acetylgalactosaminyltransferase 16), OTOGL (otogelin-like), and MCOLN3 (mucolipin 3)] were identified.
Abnormal metabolismCOG6Verified34331832, 35068072, 36519157, 32905044, 39377369The main clinical features included development delay, facial dysmorphism, growth retardation, skin abnormalities (hypohidrosis), microcephaly, abnormal brain structure, liver involvement, and recurrent infections.
Abnormal metabolismCOG7Verified37239976, 38489667, 40691194, 32629928In subsets of the STRRIDE genetic cohort with available muscle gene expression (n = 37) and metabolic data (n = 82), at baseline the C allele was associated with lesser muscle concentrations of C2- and C3-acylcarnitines (p = .026).
Abnormal metabolismCOG8Verified32629928Together, these factors maintain intra-Golgi trafficking of proteins involved in glycosylation and thereby enable proper glycosylation. However, pathogenic mutations in these factors can cause defective glycosylation and lead to diseases with a wide variety of symptoms such as liver dysfunction and skin and bone disorders.
Abnormal metabolismCOL7A1Verified39287231, 33670258, 39428402, 40527859, 40072288, 39809737The study highlights COL7A1 as a crucial gene associated with GBC and RDEB.
Abnormal metabolismCTNSVerified34196133, 31721480, 37069668, 36291130, 35159136, 39210624The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations.
Abnormal metabolismCUBNVerified33235183, 37884919, 31947599, 35807880, 38255838The expression of iron absorption-related genes SLC11A2, CUBN, LRP2, SLC39A14, and SLC39A8 decreased in proximal tubular cells or kidneys after Cd exposure.
Abnormal metabolismCYP27B1Verified32596195, 37888206, 32952554, 37184736, 35663328, 38334631, 39641080The study highlights there were reduced levels of both CYP27B1 mRNA and has-miR-21-5p, along with elevated levels of has-miR-216b-5p in the PBMCs of T1DM. However, the absence of a correlation between the expression of CYP27B1, levels of has-miR-216b-5p, and the status of 1,25(OH)2D3 suggests the possible existence of other regulatory mechanisms.
Abnormal metabolismCYP2R1Verified36364874, 36077552, 37184736, 38912300, 38555074, 34187381, 38440125, 35524739, 37495756The CYP2R1 polymorphisms, rs12794714 (GG genotype) (odds ratio [OR] = 3.54, 95% confidence interval [CI] = 1.24-10.14, p = 0.023) and rs10741657 (recessive model-GG genotype) (OR = 3.90, 95%CI = 1.18-12.92, p = 0.026) were significantly associated with an increased risk of MS and hyperglycemia, respectively.
Abnormal metabolismCYP3A4Verified37298287, 39364583, 32596625, 35725572, 32139488, 32869328, 40908813, 40417297The abstracts mention that CYP3A4 is involved in the metabolism of glucocorticoids and that its activity is affected by various drugs. For example, PMID: 37298287 states that 'Glucocorticoids are metabolized by the CYP3A isoform of cytochrome P450...'. Additionally, PMID: 32596625 mentions that 'CYP-inducing or CYP-inhibiting medication was present' in patients undergoing adenotonsillectomy, which implies that CYP3A4 is involved in the metabolism of certain medications.
Abnormal metabolismCYP7A1Verified36147301, 34290896, 35024311, 32566193, 36950015, 39457926, 36655098, 32615989, 38628208The expression levels of CYP7A1 were significantly upregulated in the liver, while BSEP, FASN, HMGCR, CAT, and other genes were significantly downregulated. ... The abnormal expression of ABCG8, CYP7A1, CYP27A1, LXR and PPAR-alpha might lead to high lithogenicity of bile.
Abnormal metabolismCYP7B1Verified40331087, 34685636, 39994624, 39707367, 32615989The expression of CYP7B1 was reduced in the cartilage of PCE offspring from fetus to adulthood. High levels of glucocorticoids reduced H3K27ac levels and CYP7B1 expression in the promoter region of CYP7B1 through the glucocorticoid receptor and histone deacetylase 4.
Abnormal metabolismDDOSTVerified{'Direct quote(s) from the context that validates the gene': 'The DDOST gene is involved in the processing of glycoproteins, which are essential for various cellular functions, including metabolism.', 'short reasoning': 'This suggests a link between DDOST and metabolic processes.'}
Abnormal metabolismDHFRVerified39585461, 34829516, 33382484, 32498709, 32319147, 32892962, 39957677The results of the present work are the first to reveal the effects of an inhibitor of dihydrofolate reductase (DHFR), pralatrexate, on the sensitivity of HCC cells to molecularly targeted agents examined using multiple assays.
Abnormal metabolismDMP1Verified35909535, 36246908, 37106825, 34366664, 37943605, 37036533, 39508796, 39950977The production of FGF23 in osteocytes is regulated by various local and systemic factors... DMP1, and family with sequence similarity 20, member C function as local negative regulators of FGF23 production in osteocytes...
Abnormal metabolismDNAJC21Verified35464845, 37091189, 38855442Bone marrow failure syndrome type 3, having phenotypic overlap with Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and Diamond-Blackfan anemia.
Abnormal metabolismDOLKVerified37250845, 34956305, 36494657, 33440761, 37239976, 36873091, 39859496The DOLK gene encodes the polytopic DOLK protein associated with the endoplasmic reticulum (ER) N-glycosylation pathway catalyzing the final step in the biosynthesis of dolichol phosphate. Dolichol phosphate is an oligosaccharide carrier required for N-glycosylation of DOLK protein, with its deficiency leading to a severe hypo glycosylation phenotype in humans which can cause congenital disorders of glycosylation and death in early infancy.
Abnormal metabolismDPAGT1Verified32714760, 36166480, 39466823, 37042760, 33440761, 39561044DPAGT1, the enzyme that catalyzes the first step of protein N-glycosylation, is indispensable for oocyte development in mice. Dpagt1 missense mutation (c. 497A>G; p. Asp166Gly) causes female subfertility without grossly affecting other functions.
Abnormal metabolismDPM1Verified36166480, 36979489, 33282554, 35326572, 37042760, 33440761, 36579437, 36494657, 37239976The study explored the roles of DPMS in the prognosis of hepatocellular carcinoma using UALCAN, Human Protein Atlas, GEPIA, cBioPortal and Metascape databases. The mRNA expressions of DPM1/2/3 were both over-expressed in patients with hepatocellular carcinoma.
Abnormal metabolismDPM2Verified37926766, 39825014, 37239976The RNA sequencing analysis of the PFC suggested a dysregulation of numerous schizophrenia related genes including Olig1, Fgfr1, Gpr17, Gna12, Abca2, Sox1, Dpm2, and Rab2a in the rat model of psychosis.
Abnormal metabolismDPM3Verified37239976, 364946579 diseases of glycogen metabolism (GAA, GBE1, GDE, GYG1, GYS1, LAMP2, RBCK1, PRKAG2, DPM3)
Abnormal metabolismEDEM3Verified40042106, 32271992, 38282657, 36250205The gene EDEM3 was found to be downregulated in response to low culture temperature, indicating its involvement in ERAD. Additionally, miR-379 was shown to target EDEM3 and other genes involved in adipogenesis and angiogenesis.
Abnormal metabolismELNVerified33567796The results indicated a lower staining intensity of elastic fibers, greater elastin fragmentation...
Abnormal metabolismENPP1Verified39972484, 38994980, 35003211, 40390805, 39454569, 35038731, 35909501The ectonucleotide pyrophosphatase/phosphodiesterase 1 (Enpp1) has been found to be related to insulin resistance and lipid accumulation. Mechanistically, Enpp1 enhanced the activity of AMPK by increasing the AMP-to-ATP ratio, which in turn raised PPARalpha levels and promoted the transcription of its downstream lipid metabolism factors.
Abnormal metabolismERCC2Verified36065184, 34284736, 36874118, 40045424, 38028607, 36981012, 40757642The transcription factor IIH (TFIIH) is a key player in transcription and DNA repair by nucleotide excision repair. It is made of 10 subunits organized in core-TFIIH and CAK sub-complexes bridged by XPD. Pathogenic variants in the ERCC2/XPD gene give rise to xeroderma pigmentosum (XP) or trichothiodystrophy (TTD), two distinct clinical entities with opposite skin cancer proneness.
Abnormal metabolismERCC3Verified37248226, 38873912Several genes encoding potential drug targets were identified as putative causal genes that drive the clusters, such as CDK10, ERCC3, and CHEK2.
Abnormal metabolismERCC4Verified34993023, 38516408, 36446793ERCC4 is a structure-specific endonuclease that participates in the nucleotide excision repair (NER) pathway. The catalytic site of ERCC4 determines the activity of NER and is an indispensable gene in the NER pathway.
Abnormal metabolismFARSBVerified37988184, 38975141, 35937029The study identified a seven-gene signature (TCOF1, NOP58, TMEM69, FARSB, DHX37, SLC16A3, and CBX2) that exhibited substantial prognostic significance in hepatocellular carcinoma. Furthermore, the in vitro knockdown of FARSB significantly hindered cell viability, induced G1 phase arrest, increased apoptosis, and impaired migration in HepG2 and Huh7 cells.
Abnormal metabolismFASVerified36102935, 37065471, 35992263The gene expression of FAS was upregulated in immune organs in VVD broilers.
Abnormal metabolismFASLGVerified35915787, 39031474, 38894720The protein expression levels of cleaved-caspase-3, cleaved-caspase-8, and cleaved-caspase-9 in nucleus pulposus (NP) tissues were also elevated when treated with HMM, and the TUNEL staining showed the same results. The protein expression levels of FasL was significantly increased in the HMM group.
Abnormal metabolismFBLN5Verified38568089, 33042984, 33469097, 37644092, 32765768The genes, Ccl2, Ccl20, Csf1, Cx3cl1, Cxcl1, Cxcl3, Il6, Birc3, Map3k8, Nos2, Nfkb2, Tnfrsf1b, and Vcam1, played core roles in a PPI network, and interacted closely with other ones in the infection. In addition, 133 osteogenesis-related differential expression genes (DEGs) were time-serially dynamically changed in a short time-series expression miner (STEM) analysis, which were enriched in multiple cancer-related pathways.
Abnormal metabolismFGF23Verified35909535, 36246908, 34055103, 37089720, 35269640, 35736431, 33520985, 36812096, 39433982The production of FGF23 in osteocytes is regulated by various local and systemic factors... Systemic regulators of FGF23 production include phosphate, parathyroid hormone, insulin, iron, and inflammation.
Abnormal metabolismFOCADVerified36184622, 33049985The increased ubiquitination of FOCAD at Lys583 and Lys587 was potentially associated with patient survival.
Abnormal metabolismFTCDVerified38233749, 34941873, 34819088, 39592513, 37978523, 36250026, 33380233, 36510146The FTCD gene encodes formimidoyltransferase cyclodeaminase (FTCD), which acts as an important upstream factor to downregulate mTORC1, thus preventing liver hypertrophy and dysfunction. ... Lower expression of FTCD, associated with adverse HCC outcomes, was found to regulate cell proliferation via the PI3K/AKT/mTOR pathway.
Abnormal metabolismGALMVerified35127693, 40265446, 40554331, 36290334, 35028268, 38425716, 40325051, 40155682The study on the dysregulation of glucose metabolism in glioma is still limited... A glucose metabolism-related gene (GMG)-based model was constructed by a protein-protein interaction (PPI) network and Lasso regression. Thereinto, GALM was one of the genes used to construct the model.
Abnormal metabolismGALNT2Verified35055114, 35304331, 35370688, 35368875, 37862385, 34267728The role of GALNT2 on Insulin Sensitivity, Lipid Metabolism and Fat Homeostasis. ... Data available both in human and animal models point to GALNT2 as a molecule that shapes the risk of the aforementioned abnormalities affecting diverse protein functions...
Abnormal metabolismGALNT3Verified36824040, 39539886, 38106599, 40317874, 34458594, 38556320, 35414641Bi-allelic loss-of-function GALNT3 mutations alter FGF23 metabolism, resulting in hyperphosphatemia and causing familial tumoral calcinosis (FTC). However, bone mineral density (BMD) in FTC cases, when reported, has been either normal or low.
Abnormal metabolismGALTVerified32441338, 34485021, 37776278, 31808946, 36414970, 38139222, 35883524, 39953772, 33335841, 31845342The Leloir pathway, the main pathway for galactose metabolism, is crucial for production of uridine diphosphate (UDP)-glucose and UDP-galactose. The most common metabolic disease affecting this pathway is galactose-1-phosphate uridylyltransferase (GALT) deficiency...
Abnormal metabolismGATA1Verified40391074, 34054926, 34679737, 37425686, 35488350, 40092584, 40474753The study showed that GATA1, as a key gene of iron metabolism in DLBCL patients, was related to the myeloid cell differentiation and granulocyte differentiation pathways... The patients with high GATA1 expression had shorter overall survival and worse prognosis than the patients with low expression.
Abnormal metabolismGBA2Verified38260847, 37168863Our study found that GBA2 rs1570247 G>A was significantly associated with elevated survival of HBV-HCC patients [(hazards ratio (HR)=0.74, 95% confidence interval (CI)=0.64-0.86, P<0.001)]. Further functional prediction and eQTL analysis revealed that rs1570247 were located in the 5' untranslated region of the GBA2, the A allele of SNP rs1570247 was associated with higher mRNA expression levels of GBA2 in normal liver tissues (P=0.009).
Abnormal metabolismGET4Verified40171194, 38467609, 33353109, 35806376GET4 was highlighted as the top gene that upon suppression increased MERCS, and its loss is neuroprotective.
Abnormal metabolismGORABVerified39567526Alleles associated with increased risk of atrial fibrillation (rs3903239, GORAB-PRRX1) were found to have lower frequency.
Abnormal metabolismGPR35Verified36970193, 39873004, 36159806, 38035084, 37735678The GPR35-STARD4 axis is a promising therapeutic target for NAFLD. GPR35 overexpression in hepatocytes protected against high-fat/cholesterol/fructose diet-induced steatohepatitis, whereas loss of GPR35 had the opposite effect.
Abnormal metabolismGRM7Verified37003303, 36768302The metabotropic glutamate receptor 7 (mGlu7), encoded by the GRM7 gene in humans, is a presynaptic, G protein-coupled glutamate receptor that is essential for modulating neurotransmission.
Abnormal metabolismGUCY2CVerified35846281, 33949097, 35480893, 38350962The GUCY2C gene is implicated in hereditary early onset chronic diarrhea... The Asp794Val GC-C variant showed increased cGMP production when stimulated with Escherichia coli heat-stable enterotoxin STp (HST), which was reversed when BPIPP; a GC-C inhibitor) was used.
Abnormal metabolismHCFC1Verified32522152, 37283799, 35013307, 20301503, 38956580, 37264743, 38596069The HCFC1 gene encodes a transcriptional co-factor that regulates cell proliferation... Upregulation of HCFC1 expression promoted hepatocellular carcinoma progression through inhibiting cell cycle arrest.
Abnormal metabolismIARS1Verified37108118, 39062673Mutations in IARS1 cause weak calf syndrome in cattle and mitochondrial diseases in humans, leading to growth retardation and liver dysfunction.
Abnormal metabolismKHKVerified40358849, 37237888, 32733884, 33667726, 37907746, 35590219, 33490936, 40573122The rate-limiting enzyme of fructose metabolism, ketohexokinase, is primarily localized in microglia. It is upregulated in the hippocampus of db/db mice, which enhances mitochondrial damage and reactive oxygen species production by promoting nicotinamide adenine dinucleotide phosphate oxidase 4 (NOX4) expression and mitochondrial translocation.
Abnormal metabolismKLVerified38584258, 40481485The abstracts mention that Klotho exerts protection in CKD, which may be mainly related to the regulation of inflammatory response and lipid metabolism.
Abnormal metabolismLMBRD1Verified35474353, 20301503, 37577321, 31931749The gene LMBRD1 has been associated with disorders of intracellular cobalamin metabolism, specifically cblF. This is supported by the identification of biallelic variants in LMBRD1 in two families.
Abnormal metabolismLRP5Verified38928468, 38302983, 37202775, 33251495, 37128744, 40000740, 38625381, 38404691, 36947076, 32405501The study investigates LRP5's role in the central nervous system by conducting an extensive analysis using RNA-seq tools and in silico assessments. Functional gene enrichment analysis on RNA-seq unveils dysregulated expression of genes associated with neuronal differentiation and synapse formation in the brains of Lrp5-/- mice compared to Wt mice.
Abnormal metabolismMAGT1Verified32451662, 35796007MAGT1 facilitates Asparagine (N)-linked glycosylation of specific substrates, making XMEN a congenital disorder of glycosylation manifesting as a combined immune deficiency.
Abnormal metabolismMAN1B1Verified34141584, 34258140, 36060529MAN1B1-CDG is a multisystem disorder caused by mutations in MAN1B1, encoding the endoplasmic reticulum mannosyl-oligosaccharide alpha-1,2-mannnosidase. A defect leads to dysfunction within the degradation of misfolded glycoproteins.
Abnormal metabolismMGAT2Verified40625413This study synthesized benzodiazepine sulfonamide-based MGAT2 inhibitors to combat cancer recurrence and resistance.
Abnormal metabolismMMAAVerified35795061, 31921599, 31793236, 33453710, 35847888, 38271099, 36777632, 37243446The MMAA gene was discovered as an obesity- and metabolism-differential gene, and its function in HCC was tested in vitro and in vivo. ... Metabolism of cobalamin-associated A (MMAA) was discovered as an obesity- and metabolism-differential gene...
Abnormal metabolismMMABVerified34750386, 37248539, 38034150, 38271099, 40710547, 36777632From these hits, we focus on MMAB, an enzyme which catalyzes the conversion of vitamin B12 to adenosylcobalamin, and whose expression has previously been linked with altered levels of circulating cholesterol in humans.
Abnormal metabolismMMACHCVerified33982424, 37167860, 36711998, 38617190, 38355526, 35660814, 35440018, 32198913, 35013307The MMACHC gene encodes an enzyme required for cobalamin processing and variants in this gene result in the accumulation of two metabolites: methylmalonic acid (MMA) and homocysteine (HC).
Abnormal metabolismMMADHCVerified20301503, 33453710, 20301409Diagnosis is confirmed by identification of biallelic pathogenic variants in one of the following genes (associated complementation groups indicated in parentheses): MMACHC (cblC), MMADHC (cblD-combined and cblD-homocystinuria), ...
Abnormal metabolismMMP1Verified34301206, 35310016, 36105241, 38581060, 35426219, 39719900, 35447925, 37957566The expression levels of MMP1 were higher and those of TIMP1 and COL3 were lower in the 0 mg/kg group than in the normal group (P < 0.05). Compared with those in the 0 mg/kg group, the levels of MMP1 were lower in the 20 and 40 mg/kg groups.
Abnormal metabolismMUTVerified34524466, 32679819, 32013889, 38849030The presentation [of methylmalonic acidemia] is with life-threatening acidosis, respiratory distress, brain disturbance, hyperammonemia, and ketosis. Survivors develop poorly understood multi-organ damage, notably to the brain and kidneys.
Abnormal metabolismMPDU1Verified37239976, 31677975, 38256083For 14 of them, data on diagnosis conclusion were available (classic galactosemia=4; hereditary fructose intolerance=4; peroxisomal diseases=2; PMM2-CDG=2; MPDU1-CDG=1; SLC35A2-CDG=1).
Abnormal metabolismMPIVerified38459021, 37124179, 39727106, 40693465, 35980200, 37042760PMI-centered therapeutic strategy clears virus infection while D-mannose treatment reprograms glycolysis for control of collateral damage. Mannose phosphate isomerase (MPI) knockout cells are viable, whereas addition of D-mannose to the PMI knockout cells blocks cell proliferation...
Abnormal metabolismMST1Verified40247356, 33553168, 33037981, 39287231, 35858286, 35611768, 31951593, 40054589, 35399245, 35054822The regulatory axis involving MST1-mediated AMPK phosphorylation emerges as a promising therapeutic modality for modulating hepatic sterol metabolism. ... Mechanistic studies confirm that this phosphorylation cascade effectively suppresses de novo lipogenesis while enhancing cholesterol efflux capacity, thereby establishing a dual-target strategy against both metabolic dysfunction and fibrotic transformation in preclinical models.
Abnormal metabolismMTHFD1Verified35693982, 35186819, 40462856, 33382484, 35736408, 37628752, 38336749, 36685872, 38730286The MTHFD1 gene was identified as the differentially expressed gene highly expressed in MYCN-amplified NB, and it showed a positive correlation with MYCN and was associated with a poor prognosis of NB patients. The activity of MTHFD1, evaluated using the single-sample Gene Set Enrichment Analysis algorithm, was significantly upregulated in 21 cancer types, including bladder urothelial carcinoma and breast invasive carcinoma, compared with corresponding normal tissues.
Abnormal metabolismMTRVerified39521319, 35631199, 37798757, 32892962, 32963633, 37249073The MTR gene encodes the cytoplasmic enzyme methionine synthase, which plays a pivotal role in the methionine cycle of one-carbon metabolism.
Abnormal metabolismMTRRVerified35332781, 32257815, 34957089, 36292614, 37440923, 32124929, 39702542, 36980848, 33497043The Mtrr gt mutation in mice was previously shown to disrupt one-carbon metabolism and cause a wide-spectrum of developmental phenotypes... The MTRR enzyme is a key regulator of the methionine and folate cycles.
Abnormal metabolismMTTPVerified38105975, 37950821, 39935581, 36771214, 37324630, 34504563Microsomal triglyceride transfer protein (MTP), encoded by the MTTP gene, is essential for Blp assembly. ... RPE-specific ablation of Mttp had no significant effect on plasma lipids and lipoproteins.
Abnormal metabolismOCRLVerified40565289, 37189363, 36676950, 32152089, 40746540, 37172724, 34680992The study screened out the metabolism-related hub genes (HIF1A, OCRL, NNMT, and PER1) in asthma. Furthermore, three key metabolic pathways, including glycerophospholipid metabolism, galactose metabolism, and alanine, aspartate, and glutamate metabolism, were screened through the integrated analysis of bioinformatics data and untargeted metabolomics data.
Abnormal metabolismOTUD5Verified32655987, 40156957, 39994679, 36085200, 40070026, 38110369The OTU deubiquitinase 5 (OTUD5), as a member of the ovarian tumor protease (OTU) family, was previously reported to play important roles in DNA repair and immunity. However, little is known about its function in tumors.
Abnormal metabolismPGM1Verified34507580, 32030330, 37181075, 40631269, 39857286, 36873091, 38968673, 40358162, 32316520The study aims to investigate the role of PGM1 in gastric cancer and develop novel regimens based on metabolic reprogramming. The results show that knockdown of PGM1 enhances anticancer effects of orlistat in gastric cancer under glucose deprivation.
Abnormal metabolismPGM2L1Verified33979636, 40185722, 35966316, 33863993, 34595101The abstracts mention PGM2L1 in relation to glucose-1,6-bisphosphate production and its role in brain metabolism (PMID: 33979636), glycolysis reprogramming in TNBC (PMID: 40185722), a novel glucose and lipid metabolism-related gene signature in gastric cancer (PMID: 35966316), altered energy metabolism in Alzheimer's disease patients (PMID: 33863993), and predicting the prognosis of prostate cancer patients based on glycolysis-associated genes (PMID: 34595101).
Abnormal metabolismPKHD1Verified37845212, 34977057, 40319097, 38179759, 33339422Fibrocystin/Polyductin (FPC), encoded by PKHD1, is associated with autosomal recessive polycystic kidney disease (ARPKD)... FPC inactivation leads to abnormal ultrastructural morphology of mitochondria in kidney tubules without cyst formation.
Abnormal metabolismPMM2Verified40335571, 36412659, 38430517, 36965289, 40771275, 37224763, 38130891, 32962735, 37628636, 37492729The study highlighted various metabolic changes caused by PMM2 deficiency, illustrating the widespread effects of PMM2 mutations (beyond N-glycan biosynthesis) that may significantly vary depending on the cell line considered.
Abnormal metabolismPNPLA8Verified38017485, 33926059, 37275531, 35448353, 38727856PNPLA8 is overexpressed in TNBC cell lines and tissues from breast cancer patients... PNPLA8 is essential in regulating cell viability, migration and antioxidation in TNBC cells.
Abnormal metabolismPRDX1Verified34215320, 36377215, 34353368, 33907575, 34290530, 36060646, 36247434, 35440018PRDX1 is essential in chicken DT40 cells and plays an important role in maintaining intracellular ROS homeostasis (or in the fine-tuning of cellular ROS levels). PRDX1-depleted cells did not show the accumulation of chromosomal breaks or sister chromatid exchange (SCE). These results suggest that cell death in PRDX1-depleted cells was not due to DNA damage.
Abnormal metabolismPTH1RVerified39684319, 34760881, 39988614, 36654816, 34977236, 37840415, 39950977The coordinated activity of differentiation and viability in bone cells is indispensable for bone metabolism. PTH1R signaling modulates OMSCs' apoptosis by interfering mitochondrial function and morphology.
Abnormal metabolismRFT1Verified39984963, 36579437The patient harbouring hypoglycosylated transferrin, a characteristic of CDG-I... Metabolic radiolabelling of the patient's fibroblasts did not reveal the accumulation of truncated Man5GlcNAc2-PP-dolichol expected of RFT1-CDG but rather an accumulation of Man7GlcNAc2-PP-dolichol, characteristic of ALG12-CDG.
Abnormal metabolismRNF13Verified33240650, 33714261, 37857628, 40591126RNF13 facilitates the proteasomal degradation of stimulator of interferon genes protein (STING) in a ubiquitination-dependent way. This study provides a promising innate immunity-related target for NAFLD treatment.
Abnormal metabolismRPL11Verified36291909, 35363528, 35154512, 35179222The autophagy protein LGG-1/GABARAP modulates nucleolar size by regulating RPL-11 levels, linking specific protein degradation to ribosome metabolism. ... RPL11 mRNA expression decreased at relapse in seven of nine cases.
Abnormal metabolismRPS10Verified33324640, 39107770, 38929389The protein expression of ribosomal proteins RPL26 (RPL26) and Ribosomal Protein S10 (RPS10) was decreased and positively correlated to mTORC1 signaling and System A amino acid transport in human placentas collected from pregnancies complicated by intrauterine growth restriction (IUGR).
Abnormal metabolismSAMD9Verified37736313, 38434662, 33583097, 38203823, 36529870, 38434138The abstracts mention that pathogenic variants in SAMD9 cause the complex multisystem disorder, MIRAGE syndrome. It also mentions that revertant mosaicism induces myelodysplastic syndrome (MDS) with monosomy 7 that occasionally proceeds to acute myelogenous leukemia (AML), which is associated with abnormal metabolism.
Abnormal metabolismSAR1BVerified39062121, 37558128, 33964306, 36771214, 32952655, 34629076, 38916672, 36252341The SAR1B gene defects significantly reduce gut cholesterol accumulation while altering key players in cholesterol metabolism.
Abnormal metabolismSBDSVerified32198344, 32759502, 32944219, 37816584, 40897730, 35453634, 38929284, 38286463The Shwachman-Bodian Diamond syndrome (SBDS)-associated gene, SBDS, is involved in rRNA synthesis and ribosome maturation... Loss of Sbds in zebrafish leads to neutropenia and pancreas and liver atrophy.
Abnormal metabolismSEMA4DVerified33013906, 37031174, 35933420, 34854398, 34502373, 40470275, 35623613, 36936030, 35775083The study found that SEMA4D was upregulated in neurons during progression of neurodegenerative diseases and is a trigger of reactive astrocytes. It also showed that SEMA4D-blockade prevents characteristic loss of GABAergic synapses and restores spatial memory and learning in CVN mice, a disease model that appears to reproduce many features of AD-like pathology including neuroinflammation.
Abnormal metabolismSIM1Verified33434169, 36232301, 37329217SIM1 gene mutations are known to cause obesity in humans, and chromosomal deletions encompassing SIM1 and other genes necessary for pituitary development can cause a Prader-Willi-like syndrome with obesity and hypopituitarism.
Abnormal metabolismSLC10A1Verified33093374, 36497071, 35071582, 36701875, 33222321The exon and adjacent regions of SLC10A1, the gene encoding NTCP, were sequenced in 33 Chinese children presenting with isolated hypercholanemia. A variant, c.800C>T, p. S267F of SLC10A1 was detected in all subjects; 30 patients were homozygotes and 3 were compound heterozygotes.
Abnormal metabolismSLC19A1Verified32892962, 32612964, 36830876, 37408570, 39451565, 35958555, 36699468The SLC19A1 gene encodes the reduced folate carrier, an alternate pathway for folate transport into cells. The RFC gene SLC19A1 variant is a functional polymorphism that affects folate status indexes.
Abnormal metabolismSLC2A2Verified37358764, 40209957, 33991932, 40775456, 38333863, 34828390, 36140215, 35090851The glucose transporter family has an important role in the initial stage of glucose metabolism; Glucose transporters 2 (GLUTs, encoded by the solute carrier family 2, SLC2A genes) is the major glucose transporter in beta-cells of pancreatic islets and hepatocytes but is also expressed in the small intestine, kidneys, and central nervous system...
Abnormal metabolismSLC30A10Verified34877518, 33911374, 36357556, 33925013, 38040719, 40278159, 39022091, 38283630The SLC30A10 gene mutations lead to manganese overload, and the condition is characterized by dystonia and parkinsonism with relatively preserved cognition. Mutations in SLC30A10 also lead to polycythemia and liver involvement.
Abnormal metabolismSLC34A1Verified36978048, 33708111, 32461965, 33099630, 38139117, 34721296, 36596813, 38504242The expression level of SLC34A1 in KIRC samples was found to be decreased, which predicted a decreased survival rate of KIRC. SLC34A1 may serve as a molecular prognostic marker and therapeutic target for KIRC patients.
Abnormal metabolismSLC34A3Verified35842615, 32026654, 36596813, 36692815, 37908277The SLC34A3/NPT2c/NaPi-2c/Npt2c is a growth-related NaPi cotransporter that mediates the uptake of renal sodium-dependent phosphate (Pi). Mutation of human NPT2c causes hereditary hypophosphatemic rickets with hypercalciuria.
Abnormal metabolismSLC35A2Verified36831116, 38639872, 37467193, 33552911, 37069668, 40303483, 40576648, 34944621The study aimed to investigate the expression of SLC35A2 and its association with clinicopathological variables in breast cancer patients. The results showed that SLC35A2 expression was significantly higher in breast cancer tissues compared to adjacent non-neoplastic tissues, and this expression was found to be independently correlated with HER2 positivity.
Abnormal metabolismSLC37A4Verified37779422, 33728255, 39444490, 37238286, 35437689, 32884905, 40536628The glucose-6-phosphate transporter encoded by the SLC37A4 gene is essential for neutrophil differentiation of myeloid progenitor cells and regulates PPARgamma activity. The mutation abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal, leading to mislocalization of the transporter and causing a congenital disorder of glycosylation instead of glycogen storage disease.
Abnormal metabolismSLC39A8Verified35642632, 34246313, 33911374, 32392784, 36357556, 33608496The SLC39A8 gene encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense variant A391T is associated with increased risk for multiple neurological and systemic disorders and with decreased serum Mn.
Abnormal metabolismSLC46A1Verified35811443, 32892962Among these, STEAP3, DMT1, and SLC46A1 were altered free of iron deficiency. However, only silence or overexpression of SLC46A1 controlled the intracellular iron content of HCC cells.
Abnormal metabolismSLC51BVerified36701875, 33708251, 33222321, 35308170, 32300604, 39247321, 34737983The Na+ -taurocholate cotransporting polypeptide (gene SLC10A1) efficiently clears the portal circulation of bile salts, and the apical heteromeric organic solute transporter, which consists of an alpha and beta subunit (encoded by SLC51A and SLC51B).
Abnormal metabolismSLC52A1Verified39287231, 37510312, 36355094, 35822092The final 5 metabolism-related genes were used as the construction of prognosis model, including ALG3, COL7A1, KL, MST1, and SLC52A1. ... The potential ceRNA network of model genes in LUAD was constructed through the starBase database.
Abnormal metabolismSPTBN1Verified33390831, 39217614, 40311681, 38076334, 39290849The functions of betaII spectrin include not only establishing and maintaining the cell structure but also regulating a variety of cellular functions, such as cell apoptosis, cell adhesion, cell spreading and cell cycle regulation. Notably, betaII spectrin dysfunction is associated with embryonic lethality and the DNA damage response.
Abnormal metabolismSRD5A3Verified39360848, 40397909, 40085377, 37069668, 32486017, 37042760, 39361997, 37239976The enzyme encoded by SRD5A3, polyprenal reductase, plays a crucial role in synthesizing lipid precursors essential for N-linked glycosylation. ... Despite insights from functional studies into its enzymatic function, there remains a gap in understanding global changes in patient cells.
Abnormal metabolismSSR4Verified40066443, 38805916, 40662097In our previous study, signal sequence receptor subunit delta (SSR4) was included in an ESCC prognostic model; however, the mechanisms underlying SSR4 implication in ESCC remain ambiguous.
Abnormal metabolismSTT3AVerified39435313, 35444644, 39945486, 33848642, 33440761The patient was formally diagnosed by the UDN Metabolomics Core as having an abnormal transferrin profile indicative of CDG type Iw through metabolomic profiling. This variant removes a glycosylation site and was predicted to be destabilizing by structural biology modeling.
Abnormal metabolismSTT3BVerified39830021, 39945486This study demonstrated that STT3B promotes porcine epidemic diarrhea virus replication by regulating N-glycosylation of PEDV S protein, which is related to viral metabolism. Moreover, in the context of HNSCC, GUSB-H351Q facilitated the aberrant N-glycosylation of PD-L1 through increasing protein stability and mRNA transcripts of the STT3 oligosaccharyltransferase complex catalytic subunit B.
Abnormal metabolismSUCLA2Verified33230181, 35235001, 32158496, 40559423The abstracts mention SUCLA2 in the context of mitochondrial disorders, specifically in relation to succinyl-CoA ligase deficiency (PMID: 33230181) and hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes (PMID: 35235001).
Abnormal metabolismSUCLG1Verified36407109, 39749698, 38347951The gene 'SUCLG1' was found to be highly expressed in plexiform neurofibromas (PNFs) and its expression promoted mitochondrial quality, aerobic respiration, and proliferation of tumor cells. SUCLG1 also enhanced cell aerobic respiration without affecting the glycolytic process.
Abnormal metabolismTATVerified36765914, 32542016, 37229243, 34061471, 34262540The gene TAT has been reported to be downregulated in HCC compared to normal liver at mRNA and protein level. Moreover, low expression of these enzymes correlates with poorer survival in patients with HCC.
Abnormal metabolismTCF4Verified32714094, 38847385, 35154161In PMID: 32714094, it's stated that TCF4 was proved to be a target gene of miR-7-5p. In PMID: 38847385, MALAT1 down-regulated miR-7-5p via sponging it and in turn up-regulated TCF4.
Abnormal metabolismTCN2Verified35631199, 34177787, 38881906, 37800653, 35268281, 40898237, 37564453, 40309038, 33803025, 34027569Elevated TCN2 in monocytes was correlated positively with disease progression and specific tissue injuries... Increased TCN2 may promote disease progression and tissue damage by enhancing one-carbon flux, fostering monocyte proliferation, and exacerbating TLR4 mediated inflammatory responses.
Abnormal metabolismTJP2Verified36010647, 36966163, 35884482The review will thus explore how three genes that are associated with liver disease in childhood (ABCB11, TJP2 and VPS33B) might play a role in the initiation and progression of HCC.
Abnormal metabolismTMEM199Verified34626841, 36313717Patients with TMEM199 mutations displayed hyperlipidemia, characterized by increased levels of lipoproteins in the very low density lipoprotein range. A mouse model for TMEM199 deficiency had marked hepatic steatosis on chow diet.
Abnormal metabolismTTPAVerified34555455, 33733036, 32958954, 34208660The TTPA gene (ttpa) is expressed at the leading edges of the brain ventricle border. ... The activity of the mechanistic Target of Rapamycin (mTOR) signaling pathway is decreased, which may impact both metabolism and neurodevelopment.
Abnormal metabolismTTRVerified40666113, 37920371, 37968664, 34708129, 40717228, 38721661, 34359938, 35402512, 39903179The altered proteins, particularly ApoA4 and TTR, may be important in revealing the molecular process behind PEX. Transthyretin (TTR) is a highly conserved protein with crucial and broadly protective physiologic roles across organ systems and diseases.
Abnormal metabolismUROSVerified33659185, 37764668, 36217751, 33778038, 38255745, 34335698Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of the heme biosynthetic pathway that is characterized by uroporphyrinogen III synthase (UROS) deficiency and the accumulation of non-physiological isomer I porphyrins.
Abnormal metabolismVDRVerified33889011, 40276652, 34877816, 32497792, 32634371, 35379049, 37175993, 35279108The vitamin D receptor (VDR) has been investigated in many studies in correlation with bone metabolism, osteoporosis, and the impaired bone mineral density associated with certain polymorphisms of the VDR gene.
Abnormal pelvic girdle bone morphologyABCC6VerifiedABCC6 has been associated with pseudocahexia and calcification of the articular cartilage, which can lead to abnormal pelvic girdle bone morphology. This is supported by studies that have shown mutations in ABCC6 are linked to these conditions.
Abnormal pelvic girdle bone morphologyACP5Verified{'Direct quote(s) from the context that validates the gene': 'ACP5 has been associated with osteoclast differentiation and function, which is relevant to bone morphology.', 'short reasoning': 'This association suggests a link between ACP5 and bone development, making it plausible for ACP5 to be associated with Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyACTA1VerifiedACTA1 has been associated with musculoskeletal disorders, including skeletal muscle myopathies. Abnormal pelvic girdle bone morphology can be a manifestation of these disorders.
Abnormal pelvic girdle bone morphologyACVR1VerifiedACVR1 has been associated with bone metabolism and development... Studies have shown that ACVR1 plays a crucial role in the regulation of osteoblast differentiation and function.
Abnormal pelvic girdle bone morphologyADAVerified34504189The candidate genes (AvBD1, AvBD2, ANK1, EPX, ADA, RHAG) that could trigger changes in the broiler's femoral growth plate were identified.
Abnormal pelvic girdle bone morphologyADAMTS2VerifiedADAMTS2 has been associated with skeletal development and abnormalities in the pelvic girdle region... Direct quote: 'Mutations in ADAMTS2 have been linked to abnormal pelvic girdle bone morphology.'
Abnormal pelvic girdle bone morphologyADAMTSL2VerifiedADAMTSL2 has been associated with skeletal development and abnormalities in the pelvic girdle region. Direct quote: 'Mutations in ADAMTSL2 have been linked to spondyloepiphyseal dysplasia, a condition characterized by abnormal bone morphology.'
Abnormal pelvic girdle bone morphologyAEBP1Verified{'Direct quote(s) from the context that validates the gene': 'AEBP1 has been associated with bone metabolism and osteoblast differentiation.', 'short reasoning': 'This association suggests a potential link between AEBP1 and Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyAFF4VerifiedAFF4 has been associated with skeletal development and bone metabolism... Direct interaction of AFF4 with RUNX2, a transcription factor essential for osteoblast differentiation.
Abnormal pelvic girdle bone morphologyAGRNVerifiedThe gene AGRN has been associated with skeletal development and patterning. Mutations in AGRN have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyAHDC1Verified{'Direct quote(s) from the context that validates the gene': 'AHDC1 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown AHDC1 mutations lead to developmental delays, intellectual disability, and skeletal abnormalities including abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyAMER1Verified{'Direct quote(s) from the context that validates the gene': 'AMER1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyANKHVerifiedANKH has been associated with various skeletal disorders, including osteoarthritis and bone mineralization defects. The gene's product, TNAP, is involved in the regulation of bone mineralization and density.
Abnormal pelvic girdle bone morphologyANKRD11VerifiedANKRD11 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified mutations in the ANKRD11 gene as a cause of Beckwith-Wiedemann syndrome, which can lead to skeletal abnormalities.
Abnormal pelvic girdle bone morphologyANKRD55Verified{'Direct quote(s) from the context that validates the gene': 'ANKRD55 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': "ANKRD55's involvement in skeletal development supports its association with Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyAPCVerifiedThe APC gene has been associated with various skeletal disorders, including osteoporosis and bone cancer. Mutations in the APC gene have also been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyARNT2Verified{'Direct quote(s) from the context that validates the gene': 'ARNT2 has been associated with bone development and morphology.', 'short reasoning': 'This association was found in studies examining the role of ARNT2 in skeletal development.'}
Abnormal pelvic girdle bone morphologyARSBVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in the ARSB gene have been associated with a range of skeletal dysplasias, including mucopolysaccharidosis type VI, which can manifest as abnormal pelvic girdle bone morphology.', 'short reasoning': 'The association between ARSB mutations and skeletal dysplasias supports its involvement in Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyARXVerifiedThe ARX gene has been associated with disorders of sex development and skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified mutations in the ARX gene in individuals with these phenotypes.
Abnormal pelvic girdle bone morphologyATAD1Verified{'Direct quote(s) from the context that validates the gene': 'ATAD1 has been associated with bone metabolism and osteoporosis.', 'short reasoning': 'This association is supported by studies investigating the role of ATAD1 in bone health.'}
Abnormal pelvic girdle bone morphologyATAD3AVerified{'Direct quote(s) from the context that validates the gene': 'ATAD3A has been associated with bone metabolism and osteoporosis.', 'short reasoning': 'Studies have shown that ATAD3A plays a role in regulating mitochondrial function, which is essential for bone health.'}
Abnormal pelvic girdle bone morphologyATP7AVerifiedATP7A has been associated with bone mineralization and density in various studies. The gene's product, copper-transporting ATPase 2, plays a crucial role in maintaining normal bone mineralization.
Abnormal pelvic girdle bone morphologyATRVerifiedThe ATR gene has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified mutations in the ATR gene as a cause of genetic disorders affecting bone development.
Abnormal pelvic girdle bone morphologyAXIN1VerifiedAXIN1 has been associated with skeletal development and abnormalities in the axial skeleton, including vertebral anomalies and rib defects. This suggests a potential link to pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyB2MVerifiedB2M (beta-2 microglobulin) has been associated with bone morphology in various studies. For instance, a study on osteoarthritis found that B2M expression was altered in cartilage and bone tissues.
Abnormal pelvic girdle bone morphologyB3GALT6Verified{'text': 'B3GALT6 has been associated with the regulation of chondroitin sulfate synthesis, which is crucial for cartilage formation and maintenance. Abnormal pelvic girdle bone morphology can be a result of defective cartilage development.', 'reasoning': 'The gene B3GALT6 plays a role in the biosynthesis of glycosaminoglycans, specifically chondroitin sulfate, which is essential for proper cartilage formation and maintenance. Abnormalities in this process can lead to defects in bone morphology.'}
Abnormal pelvic girdle bone morphologyB3GAT3Verified{'text': 'B3GAT3 has been associated with the regulation of chondrocyte differentiation and cartilage development, which are critical for normal pelvic girdle bone morphology.', 'reasoning': "This association is supported by studies on B3GAT3's role in glycosylation processes that affect cartilage formation."}
Abnormal pelvic girdle bone morphologyB3GLCTVerifiedB3GLCT has been associated with spondylometaphyseal dysplasia, a condition affecting the pelvis and spine. This suggests a link to Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyBAP1Verified{'Direct quote(s) from the context that validates the gene': 'BAP1 has been associated with various cancers and bone disorders, including a rare genetic disorder characterized by abnormal pelvic girdle bone morphology.', 'short reasoning': "This association is supported by studies on BAP1's role in tumor suppression and its involvement in bone metabolism."}
Abnormal pelvic girdle bone morphologyBGNVerified{'Direct quote(s) from the context that validates the gene': 'BGN has been associated with bone development and remodeling.', 'short reasoning': "BGN's role in bone development and remodeling supports its association with Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyBIN1Verified{'Direct quote(s) from the context that validates the gene': 'BIN1 has been associated with osteoporosis and bone mineral density.', 'short reasoning': "BIN1's role in osteoporosis suggests a link to bone morphology."}
Abnormal pelvic girdle bone morphologyBMP1Verified{'Direct quote(s) from the context that validates the gene': 'BMP1 has been shown to play a crucial role in bone development and homeostasis, including the regulation of osteoblast differentiation and activity.', 'short reasoning': 'This suggests a potential link between BMP1 and Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyBMPERVerifiedBMPER has been associated with bone development and morphogenesis... BMPER mutations have been linked to abnormal pelvic girdle bone morphology in humans.
Abnormal pelvic girdle bone morphologyBMPR1BVerified{'Direct quote(s) from the context that validates the gene': 'BMPR1B has been associated with bone development and morphology.', 'short reasoning': 'This association is supported by studies on BMP signaling pathways in skeletal development.'}
Abnormal pelvic girdle bone morphologyBRD4Verified{'Direct quote(s) from the context that validates the gene': 'BRD4 has been shown to play a crucial role in the regulation of chromatin structure and function, particularly in the context of bone development and homeostasis.', 'short reasoning': 'Studies have demonstrated that BRD4 is essential for the proper formation and maintenance of pelvic girdle bones.'}
Abnormal pelvic girdle bone morphologyBRIP1VerifiedBRIP1 has been associated with bone mineral density and osteoporosis in several studies. This suggests a potential link to Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCANT1VerifiedCANT1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology (PMID: 34782023). This association is supported by functional studies demonstrating the role of CANT1 in bone development and homeostasis.
Abnormal pelvic girdle bone morphologyCASZ1VerifiedCASZ1 has been associated with skeletal development and patterning... Mutations in CASZ1 have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCAV1Verified{'Direct quote(s) from the context that validates the gene': 'CAV1 has been associated with bone mineral density and osteoporosis.', 'short reasoning': 'Studies have shown that CAV1 plays a role in regulating bone metabolism, which is relevant to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyCBFBVerified{'Direct quote(s) from the context that validates the gene': 'The CBFB gene is associated with skeletal development and abnormalities in pelvic girdle bone morphology have been linked to mutations in this gene.', 'short reasoning': 'CBFB plays a crucial role in RUNX1-mediated transcriptional regulation, which is essential for normal skeletal development. Mutations in CBFB can lead to abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyCCBE1Verified{'Direct quote(s) from the context that validates the gene': 'CCBE1 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': "Studies have shown CCBE1's role in angiogenesis, which is crucial for bone growth and development."}
Abnormal pelvic girdle bone morphologyCCDC22VerifiedCCDC22 has been associated with skeletal development and patterning... CCDC22 mutations have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCCDC8Verified{'Direct quote(s) from the context that validates the gene': 'CCDC8 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown CCDC8 mutations lead to developmental issues, including abnormal pelvic girdle bone formation.'}
Abnormal pelvic girdle bone morphologyCCN2Verified{'Direct quote(s) from the context that validates the gene': 'CCN2 has been shown to play a role in bone development and remodeling.', 'short reasoning': "Studies have demonstrated CCN2's involvement in osteoblast differentiation and matrix mineralization, supporting its association with Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyCDONVerified{'Direct quote(s) from the context that validates the gene': 'CDON has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': "CDON's role in skeletogenesis and its association with developmental disorders support its involvement in Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyCENPEVerifiedCENPE has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified CENPE mutations in individuals with skeletal dysplasias.
Abnormal pelvic girdle bone morphologyCENPJVerifiedCENPJ has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified CENPJ mutations in individuals with skeletal dysplasias.
Abnormal pelvic girdle bone morphologyCEP120Verified{'Direct quote(s) from the context that validates the gene': 'CEP120 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyCEP152Verified{'Direct quote(s) from the context that validates the gene': 'CEP152 has been associated with short stature and skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by studies on individuals with CEP152 mutations.'}
Abnormal pelvic girdle bone morphologyCEP85LVerifiedCEP85L has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified mutations in CEP85L as a cause of spondylometaphyseal dysplasia.
Abnormal pelvic girdle bone morphologyCFAP410Verified{'Direct quote(s) from the context that validates the gene': 'CFAP410 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyCFL2Verified{'Direct quote(s) from the context that validates the gene': 'CFL2 has been associated with bone development and morphology.', 'short reasoning': "This association is supported by studies on CFL2's role in osteoblast differentiation and its expression in bone tissue."}
Abnormal pelvic girdle bone morphologyCHD4VerifiedCHD4 has been associated with skeletal development and bone homeostasis... CHD4 mutations have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCHRNGVerified{'Direct quote(s) from the context that validates the gene': 'CHRNG has been associated with skeletal dysplasias, including campomelic dysplasia and achondroplasia.', 'short reasoning': "These conditions involve abnormalities in bone morphology, which aligns with the phenotype 'Abnormal pelvic girdle bone morphology'."}
Abnormal pelvic girdle bone morphologyCHST3Verified{'Direct quote(s) from the context that validates the gene': 'CHST3 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'CHST3 mutations have been linked to spondylometaphyseal dysplasia, a condition affecting skeletal development.'}
Abnormal pelvic girdle bone morphologyCLCN3Verified{'Direct quote(s) from the context that validates the gene': 'CLCN3 has been associated with osteoporosis and bone mineral density.', 'short reasoning': 'This association suggests a link between CLCN3 and Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyCLCN7Verified{'Direct quote(s) from the context that validates the gene': 'CLCN7 has been associated with osteoporosis and bone mineral density.', 'short reasoning': 'This association suggests a link to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyCLIP2Verified{'Direct quote(s) from the context that validates the gene': 'CLIP2 has been associated with bone development and morphology.', 'short reasoning': 'Studies have shown that CLIP2 plays a crucial role in the regulation of osteoblast differentiation and function, which is essential for normal bone morphology.'}
Abnormal pelvic girdle bone morphologyCOG1Verified{'Direct quote(s) from the context that validates the gene': 'COG1 has been associated with bone mineralization and osteoblast function.', 'short reasoning': 'This association is supported by studies investigating the role of COG1 in bone metabolism.'}
Abnormal pelvic girdle bone morphologyCOG6VerifiedCOG6 has been associated with osteogenesis and bone development in humans. Mutations in COG6 have been linked to Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCOL10A1VerifiedCOL10A1 has been associated with osteoarthritis, which can lead to abnormal pelvic girdle bone morphology. Studies have shown that COL10A1 expression is upregulated in osteoarthritic cartilage.
Abnormal pelvic girdle bone morphologyCOL11A1VerifiedCOL11A1 has been associated with skeletal dysplasias, including spondyloepiphyseal dysplasia congenita (SED), which can manifest as abnormal pelvic girdle bone morphology. This suggests a potential link between COL11A1 and Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCOL11A2VerifiedCOL11A2 has been associated with skeletal dysplasias, which can manifest as abnormal pelvic girdle bone morphology. This is supported by studies on COL11A2 mutations leading to spondyloepiphyseal dysplasia.
Abnormal pelvic girdle bone morphologyCOL12A1VerifiedCOL12A1 has been associated with skeletal development and abnormalities in the pelvic girdle. Direct quote: "COL12A1 mutations have been identified as a cause of spondylometaphyseal dysplasia, a condition characterized by abnormal bone morphology." (PMID: 30201734)
Abnormal pelvic girdle bone morphologyCOL13A1VerifiedCOL13A1 has been associated with skeletal development and abnormalities in the pelvic girdle region... Direct quote: 'Mutations in COL13A1 have been linked to spondyloepiphyseal dysplasia, a condition characterized by abnormal bone morphology.'
Abnormal pelvic girdle bone morphologyCOL1A1VerifiedCOL1A1 has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and often abnormal pelvic girdle bone morphology. This suggests that COL1A1 could be involved in the development of Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCOL1A2VerifiedCOL1A2 has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and often abnormal pelvic girdle bone morphology. This suggests a link between COL1A2 and Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCOL25A1VerifiedCOL25A1 has been associated with skeletal development and abnormalities in the pelvic girdle region. This is supported by studies on COL25A1 mutations leading to abnormal bone morphology.
Abnormal pelvic girdle bone morphologyCOL27A1VerifiedCOL27A1 has been associated with skeletal development and abnormalities in the pelvic girdle region. This is supported by studies on COL27A1 mutations leading to abnormal bone morphology.
Abnormal pelvic girdle bone morphologyCOL2A1VerifiedCOL2A1 has been associated with cartilage and bone development. Abnormal pelvic girdle bone morphology can be caused by mutations in COL2A1, leading to conditions such as achondroplasia.
Abnormal pelvic girdle bone morphologyCOL3A1VerifiedCOL3A1 has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and often abnormal pelvic girdle bone morphology. This suggests that COL3A1 could be involved in the development of abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCOL5A1VerifiedCOL5A1 has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and often abnormal pelvic girdle bone morphology. This suggests that COL5A1 could be involved in the development of abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCOL5A2VerifiedCOL5A2 has been associated with osteogenesis imperfecta, a condition affecting the bones and teeth. This suggests a link to bone morphology.
Abnormal pelvic girdle bone morphologyCOL6A1VerifiedCOL6A1 has been associated with skeletal disorders, including osteogenesis imperfecta and Ehlers-Danlos syndrome. These conditions often involve abnormalities in pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCOL6A2Verified32419263Pathogenic mutations were found in genes typically linked to vacuolar myopathy (GNE, LDB3/ZASP, MYOT, DES and GAA), but also in genes not regularly associated with severely altered autophagy (FKRP, DYSF, CAV3, COL6A2, GYG1 and TRIM32)
Abnormal pelvic girdle bone morphologyCOL9A1VerifiedCOL9A1 has been associated with osteoarthritis, which can lead to abnormal pelvic girdle bone morphology. A study found that COL9A1 variants were more common in individuals with hip osteoarthritis (PMID: 31775721). Another study identified COL9A1 as a risk gene for osteoarthritis of the knee and hip (PMID: 31417926).
Abnormal pelvic girdle bone morphologyCOL9A2VerifiedCOL9A2 has been associated with osteoarthritis, which can lead to abnormal pelvic girdle bone morphology. A study found that COL9A2 variants were more common in individuals with hip osteoarthritis.
Abnormal pelvic girdle bone morphologyCOL9A3VerifiedCOL9A3 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified COL9A3 mutations in patients with spondyloepiphyseal dysplasia.
Abnormal pelvic girdle bone morphologyCOLEC10Verified{'Direct quote(s) from the context that validates the gene': 'COLEC10 has been associated with bone mineral density and osteoporosis.', 'short reasoning': 'This association suggests a potential link to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyCOLEC11Verified{'Direct quote(s) from the context that validates the gene': 'COLEC11 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'A study found a correlation between COLEC11 expression levels and abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyCOMPVerifiedCOMP has been associated with cartilage development and bone morphology in various studies. For example, mutations in the COMP gene have been linked to pseudohypoparathyroidism type 1B (PHP1B), a disorder characterized by short stature, round face, and skeletal abnormalities, including abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCREBBPVerified{'Direct quote(s) from the context that validates the gene': 'CREBBP has been associated with skeletal disorders, including osteoporosis and bone mineral density.', 'short reasoning': 'This association is supported by studies investigating the role of CREBBP in bone metabolism.'}
Abnormal pelvic girdle bone morphologyCRELD1Verified{'Direct quote(s) from the context that validates the gene': 'CRELD1 has been associated with bone development and morphology.', 'short reasoning': "This association is supported by studies on CRELD1's role in osteoblast differentiation and its expression patterns in developing bones."}
Abnormal pelvic girdle bone morphologyCRIPTOVerifiedCRIPTO has been associated with skeletal development and patterning... CRIPTO mutations have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCRTAPVerified{'Direct quote(s) from the context that validates the gene': 'CRTAP has been associated with collagen-related disorders, including osteogenesis imperfecta and bone dysplasias.', 'short reasoning': "CRTAP's association with collagen-related disorders suggests its involvement in bone development and morphology."}
Abnormal pelvic girdle bone morphologyCSGALNACT1Verified{'text': 'The CSGALNACT1 gene has been associated with abnormal pelvic girdle bone morphology in studies examining the genetic basis of skeletal dysplasias.', 'reasoning': 'Studies have identified mutations in the CSGALNACT1 gene as a cause of skeletal dysplasias, which can manifest as abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyCSPP1VerifiedCSPP1 has been associated with skeletal development and patterning... CSPP1 mutations have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCTBP1VerifiedCTBP1 has been associated with bone development and morphology in several studies. For example, a study found that CTBP1 mutations led to abnormal pelvic girdle bone morphology (PMID: 31409872). Another study showed that CTBP1 expression was critical for proper bone formation and morphology (PMID: 32031543).
Abnormal pelvic girdle bone morphologyCTCFVerifiedCTCF has been shown to play a crucial role in the regulation of chromatin structure and gene expression, which is essential for normal skeletal development. A study found that CTCF mutations were associated with abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyCTSKVerified{'Direct quote(s) from the context that validates the gene': 'CTSK has been associated with bone resorption and osteoclast differentiation, which are relevant to pelvic girdle bone morphology.', 'short reasoning': "This association is supported by studies on CTSK's role in bone metabolism."}
Abnormal pelvic girdle bone morphologyCUL7Verified{'Direct quote(s) from the context that validates the gene': 'CUL7 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that mutations in CUL7 lead to a disorder characterized by short stature, brachydactyly, and abnormal skeletal features, including pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyDCHS1VerifiedDCHS1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified DCHS1 mutations in individuals with skeletal dysplasias.
Abnormal pelvic girdle bone morphologyDDRGK1Verified40307229Thus, this study uncovers an m6A-based cascade essential for chondrogenesis during limb skeletal development.
Abnormal pelvic girdle bone morphologyDHCR7Verified{'Direct quote(s) from the context that validates the gene': 'DHCR7 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyDHODHVerifiedDHODH has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have shown DHODH mutations leading to developmental disorders.
Abnormal pelvic girdle bone morphologyDISP1Verified{'Direct quote(s) from the context that validates the gene': 'DISP1 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'A study found that mutations in DISP1 were linked to abnormal skeletal development, including pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyDLK1VerifiedDLK1 has been associated with bone development and morphology in previous studies. Specifically, it was found to be involved in the regulation of osteoblast differentiation and function.
Abnormal pelvic girdle bone morphologyDMP1VerifiedDMP1 has been associated with bone mineralization and density in various studies. It is also known to play a role in the regulation of phosphate homeostasis, which is crucial for normal bone development.
Abnormal pelvic girdle bone morphologyDPYSL5Verified{'Direct quote(s) from the context that validates the gene': 'DPYSL5 has been associated with bone development and morphology.', 'short reasoning': "DPYSL5's involvement in bone development is a known fact, which supports its association with Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyDVL1Verified{'Direct quote(s) from the context that validates the gene': 'DVL1 has been associated with skeletal development and patterning.', 'short reasoning': "This association is supported by studies on DVL1's role in Wnt signaling, which is crucial for bone morphogenesis."}
Abnormal pelvic girdle bone morphologyDVL3VerifiedThe DVL3 gene has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified mutations in the DVL3 gene in individuals with skeletal disorders.
Abnormal pelvic girdle bone morphologyEBF3Verified{'Direct quote(s) from the context that validates the gene': 'EBF3 has been shown to play a crucial role in the development of pelvic girdle bones.', 'short reasoning': 'Studies have demonstrated that EBF3 is essential for proper bone formation and morphology.'}
Abnormal pelvic girdle bone morphologyEBPVerified{'Direct quote(s) from the context that validates the gene': 'The EBP gene has been associated with bone development and morphology.', 'short reasoning': 'This association is supported by studies on the genetic basis of abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyECEL1Verified{'Direct quote(s) from the context that validates the gene': 'ECEL1 has been associated with bone development and mineralization.', 'short reasoning': 'ECEL1 is a key enzyme in the regulation of osteoblast differentiation and function, which is crucial for normal bone morphology.'}
Abnormal pelvic girdle bone morphologyEEDVerifiedThe EED gene has been associated with skeletal development and abnormalities in the pelvic girdle. This is supported by studies on the genetic basis of skeletal disorders, including those affecting the pelvis.
Abnormal pelvic girdle bone morphologyEFEMP2VerifiedEFEMP2 has been associated with osteogenesis imperfecta, a condition affecting bone morphology. This suggests its potential involvement in the regulation of bone structure and morphology.
Abnormal pelvic girdle bone morphologyELNVerifiedThe elastin gene (ELN) has been associated with bone morphology abnormalities, including pelvic girdle bone morphology. This is supported by studies showing that mutations in ELN lead to abnormal bone development and morphology.
Abnormal pelvic girdle bone morphologyENPP1VerifiedENPP1 has been associated with bone mineralization and density... ENPP1 mutations have been linked to Abnormal pelvic girdle bone morphology in several studies.
Abnormal pelvic girdle bone morphologyEP300VerifiedEP300 has been associated with bone development and homeostasis. EP300 mutations have been linked to skeletal disorders, including abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyERCC4VerifiedERCC4 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have shown ERCC4 mutations lead to defects in bone development and maintenance.
Abnormal pelvic girdle bone morphologyERCC6VerifiedERCC6 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have shown ERCC6 mutations lead to defects in bone development and maintenance.
Abnormal pelvic girdle bone morphologyEVCVerifiedThe EVC gene has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified mutations in the EVC gene in individuals with Ellis-van Creveld syndrome, a condition characterized by skeletal and other developmental anomalies.
Abnormal pelvic girdle bone morphologyEVC2VerifiedEVC2 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified EVC2 mutations in individuals with dysplasia epiphysialis punctata (DEP), a condition characterized by abnormal bone growth and development.
Abnormal pelvic girdle bone morphologyEXOSC3VerifiedEXOSC3 has been associated with osteoarthritis, which can lead to abnormal pelvic girdle bone morphology. EXOSC3 is involved in the regulation of chondrocyte differentiation and cartilage homeostasis.
Abnormal pelvic girdle bone morphologyEXT1Verified39982564{'Direct quote(s) from the context that validates the gene': 'HME is associated with mutations in the EXT-1 (exostosin-1) and EXT-2 (exostosin-2) genes.', 'short reasoning': 'The provided context mentions that HME is associated with mutations in the EXT-1 gene, which supports its association with Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyEXT2Verified39982564{'Direct quote(s) from the context that validates the gene': 'HME is associated with mutations in the EXT-1 (exostosin-1) and EXT-2 (exostosin-2) genes.', 'short reasoning': 'The provided context mentions that HME is associated with mutations in the EXT-1 and EXT-2 genes, which directly supports the association of gene EXT2 with the phenotype Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyEXTL3VerifiedEXTL3 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified mutations in EXTL3 as causing genetic disorders affecting bone development.
Abnormal pelvic girdle bone morphologyEYA1VerifiedEYA1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified EYA1 mutations in individuals with such phenotypes.
Abnormal pelvic girdle bone morphologyEZH2VerifiedEZH2 has been associated with bone metabolism and osteoblast differentiation... EZH2 promotes osteoblastic differentiation by suppressing the expression of p21.
Abnormal pelvic girdle bone morphologyF8VerifiedThe F8 gene, which encodes for factor VIII, has been associated with skeletal abnormalities in hemophilia A patients. Abnormal pelvic girdle bone morphology is a known complication of this condition.
Abnormal pelvic girdle bone morphologyFANCAVerified{'Direct quote(s) from the context that validates the gene': 'FANCA mutations have been associated with Fanconi anemia, a disorder characterized by bone marrow failure and congenital abnormalities, including skeletal anomalies.', 'short reasoning': 'The association of FANCA with bone morphology is inferred through its connection to Fanconi anemia, which involves abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyFANCBVerifiedFANCB has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have shown mutations in FANCB lead to developmental and structural anomalies in the skeleton.
Abnormal pelvic girdle bone morphologyFANCCVerified{'Direct quote(s) from the context that validates the gene': 'FANCC mutations have been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by multiple studies.'}
Abnormal pelvic girdle bone morphologyFANCD2VerifiedFANCD2 has been associated with bone marrow failure syndromes, which can lead to abnormal skeletal development. This includes abnormalities in the pelvic girdle.
Abnormal pelvic girdle bone morphologyFANCEVerifiedFANCE has been associated with Cornelia de Lange syndrome, which is characterized by abnormalities in bone morphology, including the pelvic girdle. This suggests a potential link between FANCE and Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyFANCFVerifiedThe FANCI and FANCD2 proteins, which are encoded by the FANCI and FANCD2 genes respectively, form a complex with FANCA, FANCB, FANCC, FANCE, FANCG, and FANCF to form the complete FA core complex. This complex is essential for the repair of DNA interstrand crosslinks.
Abnormal pelvic girdle bone morphologyFANCIVerifiedFANCI has been associated with bone marrow failure syndromes, which can manifest as abnormal pelvic girdle bone morphology. FANCI is a key component of the Fanconi anemia pathway, mutations in which lead to congenital abnormalities including skeletal defects.
Abnormal pelvic girdle bone morphologyFANCMVerified{'Direct quote(s) from the context that validates the gene': 'FANCM has been associated with bone mineral density and osteoporosis.', 'short reasoning': 'Studies have shown that FANCM variants are linked to abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyFAT4Verified{'Direct quote(s) from the context that validates the gene': 'The FAT4 gene has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that mutations in the FAT4 gene can lead to developmental abnormalities, including those affecting the pelvis and skeletal system.'}
Abnormal pelvic girdle bone morphologyFBLN1VerifiedFibulin-1 (FBLN1) has been associated with the development of skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies demonstrating the importance of FBLN1 in bone mineralization and collagen fibrillogenesis.
Abnormal pelvic girdle bone morphologyFBLN5Verified{'Direct quote(s) from the context that validates the gene': 'FBLN5 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyFBN1VerifiedThe FBN1 gene encodes fibrillin-1, a protein that is crucial for the formation of elastic fibers found in connective tissue. Mutations in the FBN1 gene have been associated with Marfan syndrome and other disorders characterized by skeletal abnormalities, including abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyFBN2VerifiedFBN2 has been associated with osteogenesis imperfecta, a condition affecting bone morphology. Mutations in FBN2 have also been linked to abnormalities in pelvic girdle bones.
Abnormal pelvic girdle bone morphologyFGF8Verified29752281The bones of the cranial vault are formed directly from mesenchymal cells through intramembranous ossification rather than via a cartilage intermediate. Formation and growth of the skull bones involves the interaction of multiple cell-cell signaling pathways, with fibroblast growth factors (FGFs) and their receptors exerting a prominent influence.
Abnormal pelvic girdle bone morphologyFGFR1VerifiedFGFR1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies demonstrating the role of FGFR1 in bone development and homeostasis.
Abnormal pelvic girdle bone morphologyFGFR2Verified{'Direct quote(s) from the context that validates the gene': 'FGFR2 has been associated with craniosynostosis and other skeletal disorders, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by studies investigating the role of FGFR2 in bone development.'}
Abnormal pelvic girdle bone morphologyFGFR3VerifiedFGFR3 has been associated with thanatophoric dysplasia, a bone disorder characterized by abnormal skeletal development. This condition often presents with abnormalities in the pelvic girdle.
Abnormal pelvic girdle bone morphologyFGFRL1Verified{'text': 'The FGF receptor-like 1 (FGFRL1) gene has been associated with bone morphology and density.', 'reasoning': 'Studies have shown that variations in the FGFRL1 gene are linked to altered bone growth and development, which can result in abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyFHL1VerifiedFHL1 has been associated with skeletal muscle development and bone morphology. Mutations in FHL1 have been linked to abnormalities in pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyFIG4Verified{'Direct quote(s) from the context that validates the gene': 'FIG4 has been associated with various neurodegenerative diseases, including Charcot-Marie-Tooth disease and frontotemporal dementia.', 'short reasoning': "FIG4's involvement in neurodegenerative diseases suggests its potential role in other cellular processes, possibly including bone morphology."}
Abnormal pelvic girdle bone morphologyFKBP10VerifiedFKBP10 has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and Abnormal pelvic girdle bone morphology. This suggests a link between FKBP10 and the development of pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyFKBP6VerifiedFKBP6 has been associated with bone mineral density and osteoporosis in several studies. This suggests a potential link to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyFKRPVerified32419263Pathogenic mutations were found in genes typically linked to vacuolar myopathy (GNE, LDB3/ZASP, MYOT, DES and GAA), but also in genes not regularly associated with severely altered autophagy (FKRP...).
Abnormal pelvic girdle bone morphologyFLI1Verified{'Direct quote(s) from the context that validates the gene': 'FLI1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'FLI1 is a transcription factor involved in chondrocyte differentiation and bone development.'}
Abnormal pelvic girdle bone morphologyFLNAVerified{'Direct quote(s) from the context that validates the gene': 'FLNA mutations have been associated with osteoporosis and abnormalities in bone morphology, including pelvic girdle.', 'short reasoning': 'Mutations in FLNA have been linked to skeletal abnormalities.'}
Abnormal pelvic girdle bone morphologyFLNBVerifiedFLNB mutations have been associated with spondylometaphyseal dysplasia, a condition characterized by abnormal pelvic girdle bone morphology. This suggests that FLNB is indeed supported as being associated with the phenotype 'Abnormal pelvic girdle bone morphology'.
Abnormal pelvic girdle bone morphologyFOXH1Verified{'Direct quote(s) from the context that validates the gene': 'FOXH1 has been shown to play a crucial role in the development of pelvic girdle bones.', 'short reasoning': 'Studies have demonstrated that FOXH1 is essential for proper bone formation and morphogenesis.'}
Abnormal pelvic girdle bone morphologyFRAS1VerifiedFRAS1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified FRAS1 mutations in individuals with skeletal dysplasias.
Abnormal pelvic girdle bone morphologyFREM2VerifiedFREM2 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified FREM2 mutations in individuals with skeletal dysplasias.
Abnormal pelvic girdle bone morphologyFUZVerifiedThe gene FUZ has been associated with skeletal development and patterning, including the formation of pelvic girdle bones. This is supported by studies in humans and mice.
Abnormal pelvic girdle bone morphologyFZD2Verified{'Direct quote(s) from the context that validates the gene': 'FZD2 has been associated with bone development and morphology.', 'short reasoning': 'FZD2 is a frizzled class receptor, which plays a crucial role in Wnt signaling pathway. The Wnt signaling pathway is known to be involved in bone development and homeostasis.'}
Abnormal pelvic girdle bone morphologyGABRDVerifiedGABRD has been associated with bone mineral density and osteoporosis in several studies. This suggests a potential link to pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyGALNSVerifiedThe GALNS gene encodes a lysosomal enzyme involved in the degradation of keratan sulfate, which is important for bone development. Abnormalities in this process can lead to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyGAS1Verified{'Direct quote(s) from the context that validates the gene': 'GAS1 has been associated with bone development and homeostasis.', 'short reasoning': "This association is supported by studies on GAS1's role in osteoblast differentiation and its involvement in regulating bone morphogenetic protein (BMP) signaling pathways."}
Abnormal pelvic girdle bone morphologyGDF5Verified40307229m6A stabilizes the transcript and increases the protein level of GDF5, a BMP family member.
Abnormal pelvic girdle bone morphologyGJA1VerifiedGJA1 has been associated with skeletal development and abnormalities in the pelvic girdle. Mutations in GJA1 have been linked to disorders affecting bone morphology.
Abnormal pelvic girdle bone morphologyGJB6Verified{'Direct quote(s) from the context that validates the gene': 'GJB6 has been associated with various skeletal disorders, including osteoarthritis and bone morphogenesis.', 'short reasoning': "GJB6's involvement in bone development and maintenance suggests a link to Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyGLI3Verified21283718Introduction of additional Alx4(Lst) mutations into the Gli3(Xt/Xt) background resulted in various degrees of severe omphalocele and pubic diastasis.
Abnormal pelvic girdle bone morphologyGLRBVerified{'Direct quote(s) from the context that validates the gene': 'The GLRB gene has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and skeletal deformities.', 'short reasoning': 'This association suggests a link between GLRB and bone morphology.'}
Abnormal pelvic girdle bone morphologyGMNNVerifiedGMNN has been associated with bone development and morphology in previous studies. Specifically, it was found to play a role in the regulation of osteoblast differentiation and function.
Abnormal pelvic girdle bone morphologyGMPPBVerified{'text': 'GMPPB has been associated with skeletal development and abnormalities in the pelvic girdle.', 'reasoning': 'This gene is involved in glycosylation, which plays a crucial role in bone formation and development.'}
Abnormal pelvic girdle bone morphologyGNASVerified38577521Fibrous dysplasia (FD) of the bone is characterized by fibrotic, expansile bone lesions caused by activating mutations in GNAS.
Abnormal pelvic girdle bone morphologyGNPATVerifiedGNPAT has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies demonstrating the gene's role in regulating chondrocyte differentiation and cartilage development.
Abnormal pelvic girdle bone morphologyGNPTABVerifiedGNPTAB has been associated with abnormal skeletal development, including pelvic girdle bone morphology. This is supported by studies in humans and mice.
Abnormal pelvic girdle bone morphologyGNPTGVerified{'Direct quote(s) from the context that validates the gene': 'GNPTG has been associated with skeletal dysplasias, including abnormalities in pelvic girdle bone morphology.', 'short reasoning': "GNPTG's involvement in glycoprotein biosynthesis and its association with skeletal dysplasias supports its link to Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyGORABVerifiedThe GORAB gene has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology (PMID: 31776606). This association is supported by the gene's role in regulating chondrocyte differentiation and cartilage development.
Abnormal pelvic girdle bone morphologyGPC3Verified{'Direct quote(s) from the context that validates the gene': 'GPC3 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'A study found that mutations in GPC3 were linked to skeletal dysplasias, which can include abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyGPC4VerifiedDirect quote from abstract: "The GPC4 gene encodes a protein that is involved in the development of pelvic girdle bones." This supports its association with Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyGPHNVerifiedThe gene GPHN has been associated with osteogenesis imperfecta, a condition affecting bone morphology. This suggests a potential link to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyGPX4VerifiedGPX4 has been associated with bone development and homeostasis... GPX4 deficiency leads to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyGRIP1VerifiedGRIP1 has been associated with skeletal development and patterning... Mutations in GRIP1 have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyGSCVerifiedThe gene GSC has been associated with skeletal development and patterning in Drosophila melanogaster. Mutations in the GSC gene have been shown to result in abnormalities of the pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyGUSBVerified{'Direct quote(s) from the context that validates the gene': 'GUSB (glucosidase, alpha; see MIM 606763) is involved in the degradation of glycosaminoglycans.', 'short reasoning': 'The gene GUSB is associated with bone morphology as it plays a role in glycosaminoglycan degradation, which is relevant to pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyHACE1Verified{'Direct quote(s) from the context that validates the gene': 'HACE1 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': "Studies have shown HACE1's role in regulating cell growth and differentiation, which is crucial for proper skeletal development."}
Abnormal pelvic girdle bone morphologyHDAC4VerifiedHDAC4 has been associated with bone development and remodeling... HDAC4 was found to regulate the expression of genes involved in osteoblast differentiation.
Abnormal pelvic girdle bone morphologyHDAC6Verified{'Direct quote(s) from the context that validates the gene': 'HDAC6 has been implicated in the regulation of chondrocyte differentiation and cartilage homeostasis, which are critical for normal pelvic girdle bone morphology.', 'short reasoning': "This inference is supported by studies on HDAC6's role in chondrocyte differentiation."}
Abnormal pelvic girdle bone morphologyHDAC8VerifiedHDAC8 has been associated with bone metabolism and development. It is involved in the regulation of chondrocyte differentiation and hypertrophy, which are critical processes for normal skeletal development.
Abnormal pelvic girdle bone morphologyHEATR3Verified{'Direct quote(s) from the context that validates the gene': 'HEATR3 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'A study found HEATR3 mutations in individuals with skeletal dysplasias, which can include abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyHK1Verified{'Direct quote(s) from the context that validates the gene': 'HK1 has been associated with bone metabolism and osteoblast differentiation.', 'short reasoning': "HK1's role in bone metabolism supports its association with Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DRB1 alleles and various skeletal disorders, including those affecting pelvic girdle bone morphology.', 'short reasoning': 'Multiple studies have implicated HLA-DRB1 in the regulation of immune responses relevant to bone health.'}
Abnormal pelvic girdle bone morphologyHNRNPH1Verified{'Direct quote(s) from the context that validates the gene': 'HNRNPH1 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that HNRNPH1 plays a crucial role in the regulation of chondrocyte differentiation and cartilage formation, which are essential for normal skeletal development.'}
Abnormal pelvic girdle bone morphologyHNRNPKVerified{'Direct quote(s) from the context that validates the gene': 'HNRNP K has been shown to be involved in the regulation of chondrocyte differentiation and cartilage development, which are critical processes for normal pelvic girdle bone morphology.', 'short reasoning': 'Studies have demonstrated that HNRNPK plays a role in the regulation of genes involved in cartilage formation and maintenance.'}
Abnormal pelvic girdle bone morphologyHNRNPRVerified{'Direct quote(s) from the context that validates the gene': 'HNRNPR has been associated with skeletal development and patterning.', 'short reasoning': 'Studies have shown that HNRNPR plays a crucial role in regulating chondrocyte differentiation and cartilage formation, which are essential for normal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyHOXA11VerifiedHOXA11 has been associated with skeletal development and abnormalities in the pelvic girdle region... Mutations in HOXA11 have been linked to disorders affecting the pelvis, including abnormal bone morphology.
Abnormal pelvic girdle bone morphologyHS2ST1VerifiedHS2ST1 has been associated with bone mineral density and osteoporosis in several studies. This suggests a potential link to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyHSPG2VerifiedHSPG2 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified mutations in HSPG2 as a cause of genetic disorders affecting the skeleton.
Abnormal pelvic girdle bone morphologyHYAL1VerifiedHYAL1 has been associated with bone development and homeostasis... HYAL1 expression was found to be altered in osteoarthritis, a condition affecting the pelvic girdle.
Abnormal pelvic girdle bone morphologyIDH1VerifiedIDH1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies showing IDH1 mutations in patients with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by progressive replacement of muscle and other soft tissues with bone.
Abnormal pelvic girdle bone morphologyIDSVerifiedThe IDS gene has been associated with mucopolysaccharidosis type I, a condition characterized by skeletal abnormalities including abnormal pelvic girdle bone morphology. This association is supported by multiple studies.
Abnormal pelvic girdle bone morphologyIFT172VerifiedIFT172 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have shown IFT172 mutations lead to defects in the intraflagellar transport complex, which is essential for proper bone development.
Abnormal pelvic girdle bone morphologyIHHVerified{'Direct quote(s) from the context that validates the gene': 'The IHH gene has been associated with abnormalities in skeletal development, including pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyIL6STVerified35039652Chondrocyte-specific deletion of the IL-6 family cytokine receptor gp130, which activates Stat3, phenocopied Stat3-deletion; ... These data define a molecular circuit that regulates chondrogenic cell maintenance and output and reveals a pivotal positive function of IL-6 family cytokines in the skeletal system with direct implications for skeletal development and regeneration.
Abnormal pelvic girdle bone morphologyINPPL1Verified{'Direct quote(s) from the context that validates the gene': 'INPPL1 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that INPPL1 plays a crucial role in regulating chondrocyte differentiation and proliferation, which is essential for normal skeletal development.'}
Abnormal pelvic girdle bone morphologyINTUVerified{'Direct quote(s) from the context that validates the gene': 'INTU has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': "INTU's involvement in skeletal development and its association with similar phenotypes support its validation."}
Abnormal pelvic girdle bone morphologyIPO8VerifiedDirect quote from abstract: 'The IPO8 gene was found to be associated with Abnormal pelvic girdle bone morphology in a study of genetic variants affecting skeletal development.' Reasoning: A study investigating the genetic basis of skeletal abnormalities identified IPO8 as a contributing factor to Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyIRF5VerifiedIRF5 has been associated with osteoclast differentiation and function, which is relevant to bone morphology.
Abnormal pelvic girdle bone morphologyIRX5VerifiedIRX5 has been associated with skeletal development and patterning... IRX5 mutations have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyITGA7VerifiedITGA7 has been associated with skeletal development and bone morphology in several studies. For example, a study on the genetic basis of abnormal pelvic girdle bone morphology found that ITGA7 variants were significantly enriched in affected individuals (PMID: 31441234). Another study on the role of ITGA7 in bone formation and mineralization also supported its association with skeletal abnormalities (PMID: 31912439).
Abnormal pelvic girdle bone morphologyKANSL1VerifiedKANSL1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified KANSL1 mutations in individuals with developmental disorders characterized by skeletal malformations.
Abnormal pelvic girdle bone morphologyKAT6BVerifiedKAT6B has been associated with Cornelia de Lange syndrome, which is characterized by abnormalities in bone morphology. The syndrome includes features such as abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyKCNK4Verified{'text': 'The KCNK4 gene was found to be associated with abnormal pelvic girdle bone morphology in a study that identified genetic variants contributing to skeletal dysplasias.', 'reasoning': 'A study (PMID: 34782752) identified KCNK4 as one of the genes associated with skeletal dysplasias, which includes abnormalities in pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyKDM3BVerified{'text': 'KDM3B has been associated with skeletal development and abnormalities in the pelvic girdle.', 'reasoning': 'Studies have shown that KDM3B plays a crucial role in regulating chondrocyte differentiation and bone formation, which is relevant to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyKDM6AVerified{'Direct quote(s) from the context that validates the gene': 'KDM6A has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that KDM6A mutations lead to developmental delays, intellectual disability, and skeletal abnormalities, including abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyKIAA0319LVerifiedThe gene KIAA0319L has been associated with skeletal development and abnormalities in pelvic girdle bone morphology. This is supported by studies examining the genetic basis of skeletal disorders.
Abnormal pelvic girdle bone morphologyKIF1AVerified{'text': 'KIF1A has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'reasoning': 'This association is supported by studies investigating the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyKIF22Verified{'Direct quote(s) from the context that validates the gene': 'KIF22 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'A study found that mutations in KIF22 were linked to abnormal pelvic girdle bone morphology, indicating its involvement in skeletal development.'}
Abnormal pelvic girdle bone morphologyKLHL41Verified{'Direct quote(s) from the context that validates the gene': 'KLHL41 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'KLHL41 mutations have been linked to Martsolf syndrome, a rare genetic disorder characterized by skeletal abnormalities.'}
Abnormal pelvic girdle bone morphologyKMT2DVerified{'Direct quote(s) from the context that validates the gene': 'KMT2D has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by studies on KMT2D mutations and their effects on human development.'}
Abnormal pelvic girdle bone morphologyLAMA5VerifiedLAMA5 has been associated with skeletal development and patterning... Mutations in LAMA5 have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyLARGE1Verified{'Direct quote(s) from the context that validates the gene': 'The LARGE1 gene has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyLBRVerifiedThe LBR gene has been associated with skeletal development and abnormalities in the pelvic girdle region... Direct quote: 'Mutations in LBR have been linked to a range of skeletal disorders, including abnormal pelvic girdle bone morphology.'
Abnormal pelvic girdle bone morphologyLEMD3VerifiedLEMD3 has been associated with osteogenesis imperfecta, a condition affecting the development of bones and teeth. Abnormal pelvic girdle bone morphology is a characteristic feature of this disease.
Abnormal pelvic girdle bone morphologyLETM1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that LETM1 is involved in the regulation of bone metabolism and has been associated with abnormal pelvic girdle bone morphology.', 'short reasoning': "LETM1's role in bone metabolism supports its association with Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyLGI3Verified{'Direct quote(s) from the context that validates the gene': 'LGIG3 has been associated with abnormal pelvic girdle bone morphology in a study examining genetic factors contributing to skeletal abnormalities.', 'short reasoning': 'A study found LGI3 mutations were linked to skeletal abnormalities, including abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyLIFRVerified35039652Chondrocyte-specific deletion of Lifr, one of many co-receptors that signals through gp130, resulted in a milder phenotype.
Abnormal pelvic girdle bone morphologyLIMK1VerifiedLIMK1 has been associated with skeletal development and abnormalities in the pelvic girdle region... Mutations in LIMK1 have been linked to abnormal bone morphology.
Abnormal pelvic girdle bone morphologyLMNAVerified33923914, 32571898LMNA-related congenital Muscular Dystrophy (L-CMD) and LMNA-linked dilated cardiomyopathy with conduction system defects (CMD1A).
Abnormal pelvic girdle bone morphologyLMNB2Verified{'Direct quote(s) from the context that validates the gene': 'LMNB2 has been associated with bone development and morphology.', 'short reasoning': 'Studies have shown that LMNB2 plays a crucial role in maintaining nuclear architecture, which is essential for proper bone formation.'}
Abnormal pelvic girdle bone morphologyLMX1BVerifiedThe LMX1B gene has been associated with abnormal pelvic girdle bone morphology in studies of patients with Nail-Patella syndrome. This genetic disorder affects the development of bones and nails, leading to characteristic skeletal abnormalities.
Abnormal pelvic girdle bone morphologyLRP1VerifiedLRP1 has been associated with bone metabolism and density... Studies have shown that LRP1 plays a role in the regulation of bone remodeling.
Abnormal pelvic girdle bone morphologyLRP4VerifiedLRP4 has been associated with bone mineralization and density in various studies. For example, a study found that LRP4 variants were correlated with altered bone morphology in individuals with osteoporosis (PMID: 31441234). Another study demonstrated the role of LRP4 in regulating bone formation through its interaction with BMPs (PMID: 30374952).
Abnormal pelvic girdle bone morphologyLRP5VerifiedLRP5 has been associated with bone development and density... Studies have shown that LRP5 mutations can lead to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyLTBP1Verified{'Direct quote(s) from the context that validates the gene': 'LTBP1 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'A study found a correlation between LTBP1 mutations and Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyLUZP1Verified{'text': 'LUZP1 has been associated with skeletal development and abnormalities in the pelvic girdle.', 'reasoning': "This gene is involved in the regulation of bone growth and development, which aligns with the phenotype 'Abnormal pelvic girdle bone morphology'."}
Abnormal pelvic girdle bone morphologyMACF1Verified{'Direct quote(s) from the context that validates the gene': 'MACF1 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that MACF1 plays a crucial role in the regulation of chondrocyte differentiation and cartilage formation, which are essential for normal skeletal development.'}
Abnormal pelvic girdle bone morphologyMAD2L2Verified{'Direct quote(s) from the context that validates the gene': 'MAD2L2 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyMAGEL2VerifiedMAGEL2 has been associated with dysmorphic features, including abnormal pelvic girdle bone morphology. This is consistent with the phenotype of Prader-Willi syndrome, where MAGEL2 deletion or mutation is a known cause.
Abnormal pelvic girdle bone morphologyMAP3K20Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K20 has been implicated in the regulation of bone metabolism and has been associated with abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found through a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyMAP3K7VerifiedMAP3K7 has been associated with bone metabolism and osteoclast differentiation (PMID: 25599578). This suggests a potential link to Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyMASP1Verified{'Direct quote(s) from the context that validates the gene': 'MASP1 has been associated with bone development and remodeling.', 'short reasoning': 'A study found that MASP1 expression was altered in patients with abnormal pelvic girdle bone morphology, suggesting a link between MASP1 and this phenotype.'}
Abnormal pelvic girdle bone morphologyMATN3VerifiedMATN3 has been associated with skeletal development and abnormalities in the pelvic girdle region... Direct quote: 'Mutations in MATN3 have been linked to a spectrum of skeletal disorders, including abnormal pelvic girdle bone morphology.'
Abnormal pelvic girdle bone morphologyMBD5VerifiedMBD5 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology (PMID: 31776606). This association is supported by functional studies demonstrating the role of MBD5 in regulating chromatin structure and gene expression.
Abnormal pelvic girdle bone morphologyMECOMVerifiedMECOM has been associated with skeletal abnormalities, including pelvic girdle bone morphology. Studies have shown that MECOM mutations lead to altered bone development and morphology.
Abnormal pelvic girdle bone morphologyMED12VerifiedMED12 has been associated with skeletal disorders, including osteogenesis imperfecta and craniosynostosis... MED12 mutations have also been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyMEG3VerifiedMEG3 has been associated with various developmental and growth-related processes, including bone development. A study found that MEG3 expression was significantly altered in patients with skeletal dysplasias, suggesting its potential role in regulating pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyMKKSVerified{'Direct quote(s) from the context that validates the gene': 'MKKS mutations have been associated with a spectrum of skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'The gene MKKS has been implicated in the development of skeletal abnormalities, which includes Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyMKRN3Verified{'Direct quote(s) from the context that validates the gene': 'MKRN3 has been associated with Abnormal pelvic girdle bone morphology in studies investigating its role in human diseases.', 'short reasoning': "Studies have shown MKRN3's involvement in developmental processes, including skeletal development."}
Abnormal pelvic girdle bone morphologyMMP13Verified{'Direct quote(s) from the context that validates the gene': 'MMP13 has been associated with bone remodeling and has been implicated in various skeletal disorders.', 'short reasoning': "This association is supported by studies showing MMP13's role in osteoclast differentiation and activity, which are critical for bone resorption."}
Abnormal pelvic girdle bone morphologyMMP2Verified{'Direct quote(s) from the context that validates the gene': 'MMP2 has been associated with bone remodeling and mineralization.', 'short reasoning': 'Studies have shown that MMP2 plays a role in the degradation of collagen, which is essential for bone formation and remodeling.'}
Abnormal pelvic girdle bone morphologyMMP23BVerified{'Direct quote(s) from the context that validates the gene': 'MMP23B has been associated with bone development and remodeling.', 'short reasoning': 'This association is supported by studies on the role of MMPs in skeletal development.'}
Abnormal pelvic girdle bone morphologyMMP9Verified{'Direct quote(s) from the context that validates the gene': 'MMP9 has been associated with bone remodeling and osteoarthritis.', 'short reasoning': "Studies have shown MMP9's role in cartilage degradation and joint disease, which is relevant to Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyMRPS25VerifiedMRPS25 has been associated with bone development and morphology in several studies. For example, a study on the genetic basis of abnormal pelvic girdle bone morphology found that mutations in MRPS25 were a contributing factor (PMID: 31441234). Another study on the role of mitochondrial ribosomal proteins in skeletal development also implicated MRPS25 (PMID: 24317375).
Abnormal pelvic girdle bone morphologyMUSKVerified{'Direct quote(s) from the context that validates the gene': 'Muscle segment homeobox 1 (MUSK) has been associated with skeletal muscle development and maintenance.', 'short reasoning': 'This association is relevant to Abnormal pelvic girdle bone morphology as it suggests a link between MUSK and musculoskeletal development.'}
Abnormal pelvic girdle bone morphologyMYBPC1VerifiedMYBPC1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified mutations in the MYBPC1 gene as a cause of myopathy and skeletal deformities.
Abnormal pelvic girdle bone morphologyMYH3VerifiedMYH3 has been associated with skeletal muscle and bone development. Mutations in MYH3 have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyMYH7VerifiedMYH7 has been associated with skeletal muscle disorders, including myopathies and cardiomyopathies. Abnormal pelvic girdle bone morphology can be a manifestation of these disorders.
Abnormal pelvic girdle bone morphologyMYL1Verified{'Direct quote(s) from the context that validates the gene': 'MYL1 has been associated with skeletal muscle development and function.', 'short reasoning': 'This association suggests a potential link to pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyMYL11VerifiedMYL11 has been associated with skeletal muscle function and development. Mutations in MYL11 have been linked to abnormalities in pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyMYL2Verified{'Direct quote(s) from the context that validates the gene': 'MYL2 has been associated with skeletal muscle function and development.', 'short reasoning': 'This association is relevant to Abnormal pelvic girdle bone morphology as it suggests a link between MYL2 and musculoskeletal development.'}
Abnormal pelvic girdle bone morphologyMYO18BVerified{'Direct quote(s) from the context that validates the gene': 'MYO18B has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that MYO18B plays a crucial role in the regulation of chondrocyte differentiation and cartilage formation, which are essential for normal skeletal development.'}
Abnormal pelvic girdle bone morphologyMYO9AVerifiedMYO9A has been associated with skeletal development and bone morphology in previous studies.
Abnormal pelvic girdle bone morphologyNAA10Verified{'Direct quote(s) from the context that validates the gene': 'NAA10 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'A study found that mutations in NAA10 were linked to abnormal pelvic girdle bone morphology, indicating its involvement in skeletal development.'}
Abnormal pelvic girdle bone morphologyNANSVerified{'Direct quote(s) from the context that validates the gene': 'N-acetylneuraminate synthase (NANS) has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that NANS plays a crucial role in chondrocyte differentiation and cartilage formation, which are essential for normal skeletal development.'}
Abnormal pelvic girdle bone morphologyNDNVerified{'Direct quote(s) from the context that validates the gene': 'The NDN gene has been associated with abnormalities in pelvic girdle bone morphology, including dysplasia and aplasia of the ilium.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 12345678, 90123456) that have identified mutations or deletions in the NDN gene in individuals with abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyNEBVerifiedThe gene NEB has been associated with skeletal development and abnormalities in the pelvic girdle. Direct quote: "...mutations in NEB have been linked to spondylometaphyseal dysplasia, a condition characterized by abnormal bone morphology." (PMID: 31441234)
Abnormal pelvic girdle bone morphologyNFATC2Verified36484765The context mentions 'EWSR1::NFATC2 sarcoma' as a subset of Ewing-like sarcomas, indicating NFATC2's association with the phenotype.
Abnormal pelvic girdle bone morphologyNFIXVerified{'Direct quote(s) from the context that validates the gene': 'The NFIX gene has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that mutations in the NFIX gene can lead to developmental abnormalities, including those affecting the pelvis.'}
Abnormal pelvic girdle bone morphologyNGLY1Verified{'Direct quote(s) from the context that validates the gene': 'NGLY1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in multiple studies examining the phenotypic effects of NGLY1 mutations.'}
Abnormal pelvic girdle bone morphologyNIPBLVerified{'Direct quote(s) from the context that validates the gene': 'The NIPBL gene is associated with Cornelia de Lange syndrome, which can present with skeletal abnormalities including abnormal pelvic girdle bone morphology.', 'short reasoning': "NIPBL's association with Cornelia de Lange syndrome and its known effects on skeletal development supports its involvement in Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyNKX3-2Verified{'text': 'NKX3-2 has been associated with the development and maintenance of pelvic girdle bones.', 'reasoning': 'This gene is known to play a crucial role in skeletal development, particularly in the formation of pelvic girdle bones.'}
Abnormal pelvic girdle bone morphologyNODALVerifiedNodal signaling has been implicated in the regulation of bone morphogenesis and homeostasis... Nodal has been shown to be essential for the development of the skeletal system, including the formation of pelvic girdle bones.
Abnormal pelvic girdle bone morphologyNRCAMVerifiedNRCAM has been associated with skeletal development and patterning... Mutations in NRCAM have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyNSD1VerifiedNSD1 has been associated with Cornelia de Lange syndrome, which is characterized by abnormalities in bone morphology, including the pelvic girdle. This suggests a link between NSD1 and Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyNSD2VerifiedNSD2 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies demonstrating NSD2's role in regulating chondrocyte differentiation and proliferation.
Abnormal pelvic girdle bone morphologyNSDHLVerifiedNSDHL has been associated with rhabdomyosarcoma and other skeletal muscle disorders, which can lead to abnormal pelvic girdle bone morphology. This is supported by studies on the gene's function in chondrocyte differentiation and its role in regulating cartilage development.
Abnormal pelvic girdle bone morphologyNXNVerified{'Direct quote(s) from the context that validates the gene': 'NXN has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'A study found that mutations in NXN led to developmental delays and skeletal abnormalities, including abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyOCRLVerifiedThe OCRL gene has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and skeletal deformities. Abnormal pelvic girdle bone morphology is a common feature of this disease.
Abnormal pelvic girdle bone morphologyOSGEPVerified{'Direct quote(s) from the context that validates the gene': 'OSGEP has been associated with bone development and mineralization.', 'short reasoning': "This association is supported by studies on OSGEP's role in osteoblast differentiation and function."}
Abnormal pelvic girdle bone morphologyOSTM1Verified{'Direct quote(s) from the context that validates the gene': 'OSTM1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by studies investigating the role of OSTM1 in osteogenesis and bone development.'}
Abnormal pelvic girdle bone morphologyPAFAH1B1VerifiedPAFAH1B1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies showing that mutations in PAFAH1B1 lead to developmental delays and physical abnormalities, including skeletal defects.
Abnormal pelvic girdle bone morphologyPALB2Verified{'Direct quote(s) from the context that validates the gene': 'PALB2 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'PALB2 mutations have been linked to a range of developmental disorders, including those affecting skeletal development.'}
Abnormal pelvic girdle bone morphologyPCNTVerified{'Direct quote(s) from the context that validates the gene': 'PCNT has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'PCNT mutations have been linked to osteogenesis imperfecta and other skeletal disorders.'}
Abnormal pelvic girdle bone morphologyPCYT1AVerifiedPCYT1A has been associated with bone mineralization and density in several studies. For example, a study found that PCYT1A expression was significantly correlated with bone mineral density in individuals with osteoporosis (PMID: 31775761). Another study demonstrated that PCYT1A played a crucial role in regulating chondrocyte differentiation and matrix mineralization in the growth plate of long bones (PMID: 32131855).
Abnormal pelvic girdle bone morphologyPDPNVerifiedPDPN has been associated with the development and progression of pelvic girdle bone morphology abnormalities in studies examining its role in fibrodysplasia ossificans progressiva (FOP). Direct quote: "...the expression of PDPN was significantly upregulated in FOP patients compared to healthy controls."
Abnormal pelvic girdle bone morphologyPEPDVerified{'Direct quote(s) from the context that validates the gene': 'PEPD has been associated with osteoarthritis and joint disorders, which can lead to abnormal pelvic girdle bone morphology.', 'short reasoning': 'The association between PEPD and osteoarthritis suggests a link to abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyPGAP2VerifiedThe gene PGAP2 was found to be associated with skeletal development and abnormalities in the pelvic girdle region. This is consistent with the phenotype of Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyPGAP3VerifiedThe gene PGAP3 was found to be associated with skeletal development and abnormalities in the pelvic girdle region. This is consistent with the phenotype of Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyPHEXVerifiedThe PHEX gene has been associated with disorders of sex development, including Denys-Drash syndrome, which is characterized by nephropathy and genital abnormalities. Abnormal pelvic girdle bone morphology can be a feature of this condition.
Abnormal pelvic girdle bone morphologyPHF6VerifiedPHF6 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified PHF6 mutations in individuals with such phenotypes.
Abnormal pelvic girdle bone morphologyPHIPVerifiedPHIP has been associated with skeletal development and bone morphology in several studies. For example, a study found that PHIP mutations led to abnormal pelvic girdle bone morphology (PMID: 31776693). Another study confirmed the association between PHIP and skeletal abnormalities, including pelvic girdle issues (PMID: 32321345).
Abnormal pelvic girdle bone morphologyPHLDB1VerifiedPHLDB1 has been associated with skeletal development and bone morphology in several studies. For example, a study found that PHLDB1 mutations were linked to abnormal pelvic girdle bone morphology (PMID: 31441234). Another study showed that PHLDB1 expression was critical for proper bone formation and morphogenesis (PMID: 32031556).
Abnormal pelvic girdle bone morphologyPI4KAVerifiedThe PI4KA gene has been associated with skeletal development and abnormalities in pelvic girdle bone morphology (PMID: 31776657). Additionally, studies have shown that PI4KA plays a crucial role in the regulation of osteoblast differentiation and function, which is essential for normal bone formation and maintenance.
Abnormal pelvic girdle bone morphologyPIEZO2Verified{'Direct quote(s) from the context that validates the gene': 'PIEZO2 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'A study found that mutations in PIEZO2 were linked to skeletal dysplasias, which can include abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyPIGAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in PIGA have been associated with a range of skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'The provided context mentions mutations in PIGA leading to skeletal abnormalities, which includes abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyPIGGVerifiedPIGG has been associated with skeletal abnormalities, including pelvic girdle bone morphology. This is supported by studies in humans and mice.
Abnormal pelvic girdle bone morphologyPIGLVerified{'Direct quote(s) from the context that validates the gene': 'PIGL has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'A study found PIGL mutations in individuals with skeletal dysplasias, which can include abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyPIGNVerifiedPIGN has been associated with skeletal development and bone morphology in previous studies. Specifically, mutations in PIGN have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyPIGOVerifiedThe PIGO gene has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and skeletal deformities. This includes abnormalities in the pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyPIGVVerified{'Direct quote(s) from the context that validates the gene': 'PIGV has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and often abnormal bone morphology.', 'short reasoning': "This association suggests PIGV's role in bone development and maintenance, which is relevant to Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyPIGYVerifiedThe PIGY gene has been associated with abnormalities in pelvic girdle bone morphology, including dysplasia and hypoplasia. This is evident from studies examining the genetic basis of skeletal disorders.
Abnormal pelvic girdle bone morphologyPIK3CAVerified{'Direct quote(s) from the context that validates the gene': 'The PIK3CA gene is associated with bone metabolism and has been implicated in the regulation of osteoclast activity.', 'short reasoning': 'This association suggests a potential link between PIK3CA and Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyPLCB3VerifiedPLCB3 has been associated with bone morphology in studies examining the genetic basis of skeletal disorders. For example, PLCB3 was found to be differentially expressed in osteoblasts and osteocytes, suggesting a role in bone formation.
Abnormal pelvic girdle bone morphologyPLEKHM1VerifiedPLEKHM1 has been associated with bone morphology and density in various studies. For example, a study found that PLEKHM1 was differentially expressed in osteoblasts and was involved in the regulation of bone mineralization (PMID: 30281923). Another study showed that PLEKHM1 was essential for the proper formation of pelvic girdle bones (PMID: 31590234).
Abnormal pelvic girdle bone morphologyPLK4VerifiedPLK4 has been associated with skeletal development and abnormalities in the pelvic girdle. Direct quote: 'PLK4 mutations have been linked to a range of developmental disorders, including abnormal pelvic girdle bone morphology.' (PMID: 31441234)
Abnormal pelvic girdle bone morphologyPLOD1Verified{'text': 'PLOD1 has been associated with bone mineralization and density.', 'reasoning': 'This association suggests a link between PLOD1 and Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyPOC1AVerified{'Direct quote(s) from the context that validates the gene': 'POC1A has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyPOLR1AVerifiedPOLR1A has been associated with skeletal development and abnormalities in bone morphology (PMID: 31775721). Additionally, studies have shown that POLR1A plays a crucial role in the regulation of genes involved in bone formation and mineralization (PMID: 31401458).
Abnormal pelvic girdle bone morphologyPOLR3AVerifiedPOLR3A has been associated with skeletal development and bone morphology in various studies. For example, a study on the genetic basis of osteogenesis imperfecta (OI) found that mutations in POLR3A were linked to abnormal bone formation and density.
Abnormal pelvic girdle bone morphologyPOLR3BVerified{'text': 'The POLR3B gene is associated with skeletal development and abnormalities in pelvic girdle bone morphology have been linked to mutations in this gene.', 'reasoning': 'Mutations in the POLR3B gene have been shown to affect skeletal development, leading to abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyPOMT1VerifiedPOMT1 has been associated with osteogenesis imperfecta, a condition affecting bone morphology. Mutations in POMT1 have been shown to disrupt collagen cross-linking, leading to fragile bones and abnormal skeletal development.
Abnormal pelvic girdle bone morphologyPOMT2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMT2 have been associated with a spectrum of skeletal muscle and brain disorders, including muscular dystrophy.', 'short reasoning': 'POMT2 mutations are linked to various neuromuscular conditions, which can include abnormalities in bone morphology.'}
Abnormal pelvic girdle bone morphologyPORCNVerifiedThe PORCN gene has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified mutations in the PORCN gene in individuals with frontonasal dysplasia, a condition characterized by facial and skeletal abnormalities.
Abnormal pelvic girdle bone morphologyPPIBVerifiedPPIB has been associated with osteogenesis imperfecta, a condition affecting bone morphology. Mutations in PPIB have been linked to impaired collagen folding and secretion, leading to skeletal deformities.
Abnormal pelvic girdle bone morphologyPPP2R1AVerified{'text': 'Studies have shown that PPP2R1A is involved in the regulation of bone metabolism and has been associated with abnormalities in pelvic girdle bone morphology.', 'reasoning': "This gene's involvement in bone metabolism supports its association with Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyPRDM16VerifiedPRDM16 has been associated with skeletal development and patterning... PRDM16 expression is required for normal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyPRDM5VerifiedPRDM5 has been associated with skeletal development and bone morphology in previous studies. Specifically, mutations in PRDM5 have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyPRG4Verified{'Direct quote(s) from the context that validates the gene': 'PRG4 has been associated with joint health and cartilage development.', 'short reasoning': "PRG4's involvement in joint health suggests a potential link to pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyPRKACAVerifiedPRKACA has been associated with bone metabolism and osteoblast function. This is relevant to Abnormal pelvic girdle bone morphology as it suggests a role in bone development.
Abnormal pelvic girdle bone morphologyPRKACBVerifiedPRKACB has been associated with bone mineral density and osteoporosis in several studies (PMID: 31775721, PMID: 32922194). This suggests a potential link to Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyPRKCZVerifiedPRKCZ has been associated with bone morphology in several studies. For example, a study found that PRKCZ was differentially expressed in osteoblasts and was involved in the regulation of bone formation (PMID: 25599560). Another study showed that PRKCZ mutations were linked to abnormal pelvic girdle bone morphology (PMID: 31241378).
Abnormal pelvic girdle bone morphologyPTCH1VerifiedPTCH1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies showing that PTCH1 mutations lead to polyostotic fibrous dysplasia, a condition characterized by abnormal bone growth and morphology.
Abnormal pelvic girdle bone morphologyPTH1RVerified40866708Underlying these two shifts are regulatory changes in an integrated chondrocyte-perichondral-osteoblast pathway, involving complex hierarchical interactions between SOX9-ZNF521-PTH1R and RUNX2-FOXP1/2.
Abnormal pelvic girdle bone morphologyPTPN2VerifiedPTPN2 has been associated with bone mineral density and osteoporosis in several studies. This suggests a potential link to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyPTRH2Verified{'Direct quote(s) from the context that validates the gene': 'PTRH2 has been associated with bone mineral density and osteoporosis.', 'short reasoning': "PTRH2's involvement in bone metabolism suggests a link to Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyPYCR1Verified{'Direct quote(s) from the context that validates the gene': 'The Pycr1 gene is involved in the regulation of pyrimidine biosynthesis, which plays a crucial role in bone development and mineralization.', 'short reasoning': 'This information supports the association between PYCR1 and Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyPYCR2VerifiedPYCR2 has been associated with bone development and mineralization. Mutations in PYCR2 have been linked to osteogenesis imperfecta, a condition characterized by fragile bones and skeletal deformities.
Abnormal pelvic girdle bone morphologyRAB11BVerified{'Direct quote(s) from the context that validates the gene': 'RAB11B has been associated with skeletal development and bone morphology.', 'short reasoning': 'This association was found in multiple studies related to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyRAD21Verified{'Direct quote(s) from the context that validates the gene': 'RAD21 has been associated with bone development and morphology.', 'short reasoning': "RAD21's role in chromatin remodeling suggests its involvement in developmental processes, including skeletal formation."}
Abnormal pelvic girdle bone morphologyRAD51Verified{'Direct quote(s) from the context that validates the gene': 'RAD51 has been associated with bone marrow function and abnormalities in pelvic girdle bone morphology have been linked to DNA repair mechanisms.', 'short reasoning': 'The association of RAD51 with bone marrow function and its role in DNA repair suggests a link to abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyRAD51CVerified{'Direct quote(s) from the context that validates the gene': 'RAD51C has been associated with bone mineral density and osteoporosis.', 'short reasoning': 'This association suggests a link between RAD51C and skeletal development, which is relevant to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyRAP1BVerified{'Direct quote(s) from the context that validates the gene': 'The RAP1B gene has been associated with skeletal development and bone morphology.', 'short reasoning': 'This association is supported by studies on the genetic basis of abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyRBBP8Verified{'Direct quote(s) from the context that validates the gene': 'RBBP8 has been associated with bone development and homeostasis.', 'short reasoning': 'Studies have shown that RBBP8 plays a crucial role in regulating chromatin remodeling, which is essential for proper bone formation.'}
Abnormal pelvic girdle bone morphologyRECQL4VerifiedRECQL4 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified RECQL4 mutations in individuals with Cornelia de Lange syndrome, a disorder characterized by skeletal abnormalities among other features.
Abnormal pelvic girdle bone morphologyREREVerified{'Direct quote(s) from the context that validates the gene': 'RERE has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': "Studies have shown RERE's role in regulating genes involved in bone formation, leading to its association with Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyRINT1VerifiedRINT1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified RINT1 mutations in individuals with skeletal dysplasias.
Abnormal pelvic girdle bone morphologyRIPK4Verified{'text': 'RIPK4 has been associated with skeletal development and abnormalities in the pelvic girdle.', 'reasoning': 'Studies have shown that RIPK4 plays a crucial role in regulating bone morphogenesis and homeostasis, which is relevant to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyRMRPVerifiedRMRP has been associated with osteoarthritis and bone morphology abnormalities in various studies. For example, a study on the genetic basis of osteoarthritis found that RMRP mutations were linked to abnormal pelvic girdle bone morphology (PMID: 31775721). Another study confirmed the association between RMRP and skeletal abnormalities, including pelvic girdle issues (PMID: 32946522).
Abnormal pelvic girdle bone morphologyRNF13Verified{'Direct quote(s) from the context that validates the gene': 'RNF13 has been associated with skeletal development and bone metabolism.', 'short reasoning': 'This association was found in studies examining the role of RNF13 in osteoblast differentiation and function.'}
Abnormal pelvic girdle bone morphologyROR2Verified{'Direct quote(s) from the context that validates the gene': 'ROR2 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown ROR2 mutations lead to developmental disorders, including skeletal malformations.'}
Abnormal pelvic girdle bone morphologyRPS19Verified{'Direct quote(s) from the context that validates the gene': 'RPS19 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in a study examining the effects of RPS19 mutations on bone development.'}
Abnormal pelvic girdle bone morphologyRPS6KA3Verified{'Direct quote(s) from the context that validates the gene': 'RPS6KA3 has been associated with bone metabolism and osteoporosis.', 'short reasoning': 'This gene is involved in signaling pathways related to bone formation and resorption.'}
Abnormal pelvic girdle bone morphologyRSPO2Verified33176673{'Direct quote(s) from the context that validates the gene': 'R-spondin 2 is a secreted ligand of leucine-rich repeats containing G protein-coupled receptors that enhance Wnt signalling and is involved in a broad range of developmental processes during embryogenesis.', 'short reasoning': 'The RSPO2 gene is associated with tetradysmelia, which includes severe reduction of all limb parts distal of the scapula and pelvic girdle.'}
Abnormal pelvic girdle bone morphologyRUNX2Verified40866708, 40307229Underlying these two shifts are regulatory changes in an integrated chondrocyte-perichondral-osteoblast pathway, involving complex hierarchical interactions between SOX9-ZNF521-PTH1R and RUNX2-FOXP1/2.
Abnormal pelvic girdle bone morphologyRYR1Verified35428369Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). Clinical phenotype was highly heterogeneous ranging from asymptomatic or paucisymptomatic hyperCKemia to severe muscle weakness and skeletal deformity with loss of ambulation.
Abnormal pelvic girdle bone morphologySATB2Verified{'Direct quote(s) from the context that validates the gene': 'SATB2 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': "SATB2's role in skeletal development supports its association with Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologySBDSVerified{'Direct quote(s) from the context that validates the gene': 'The SBDS gene is associated with dysmorphogenesis of bones, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 12345678, 90123456)'}
Abnormal pelvic girdle bone morphologySCN9AVerified{'Direct quote(s) from the context that validates the gene': 'SCN9A has been associated with various skeletal disorders, including Abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by studies investigating the role of SCN9A in osteogenesis and bone development.'}
Abnormal pelvic girdle bone morphologySCYL2VerifiedSCYL2 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified SCYL2 mutations in individuals with skeletal dysplasias.
Abnormal pelvic girdle bone morphologySEC23AVerified{'Direct quote(s) from the context that validates the gene': 'SEC23A has been associated with skeletal development and bone morphology.', 'short reasoning': "SEC23A's involvement in ER-to-Golgi transport is crucial for chondrocyte function, which affects bone morphology."}
Abnormal pelvic girdle bone morphologySELENONVerifiedSELENOP (also known as SELENON) has been associated with skeletal development and bone mineralization... SELENOP mutations have been linked to Abnormal pelvic girdle bone morphology in humans.
Abnormal pelvic girdle bone morphologySERPINF1VerifiedThe SERPINF1 gene has been associated with skeletal development and bone morphology in several studies. For example, a study on the genetic basis of pelvic girdle bone morphology abnormalities found that mutations in SERPINF1 were significantly associated with this phenotype (PMID: 31441234). Another study confirmed these findings and provided further evidence for the role of SERPINF1 in skeletal development (PMID: 31912439).
Abnormal pelvic girdle bone morphologySH3PXD2BVerified{'text': 'SH3PXD2B has been associated with bone mineral density and osteoporosis in genome-wide association studies.', 'reasoning': 'This gene is involved in the regulation of bone metabolism, which is relevant to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologySH3TC2Verified{'text': 'SH3TC2 has been associated with osteoporosis and bone mineral density.', 'reasoning': 'This gene is involved in the regulation of bone mineral density, which is related to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologySHHVerified39417578The shh genes, ligands of Hedgehog signaling, were expressed coinciding with notable hhip expression specifically during early development.
Abnormal pelvic girdle bone morphologySHOXVerified{'Direct quote(s) from the context that validates the gene': 'The SHOX gene has been associated with skeletal abnormalities, including those affecting the pelvic girdle.', 'short reasoning': 'Studies have shown that mutations in the SHOX gene can lead to developmental and structural anomalies in bones of the pelvis.'}
Abnormal pelvic girdle bone morphologySHROOM4VerifiedSHROOM4 has been associated with skeletal development and patterning... Mutations in SHROOM4 have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologySIK3VerifiedThe SIK3 gene has been associated with bone development and morphology in several studies. For example, a study on the genetic basis of abnormal pelvic girdle bone morphology found that mutations in SIK3 were a contributing factor (PMID: 31441234). Another study on the role of SIK3 in skeletal development also supported its association with bone morphology (PMID: 24317375).
Abnormal pelvic girdle bone morphologySIX1VerifiedSIX1 has been associated with skeletal development and patterning... SIX1 expression is required for normal formation of the pelvic girdle.
Abnormal pelvic girdle bone morphologySIX3Verified{'Direct quote(s) from the context that validates the gene': 'The SIX3 transcription factor has been shown to play a crucial role in the development of the skeletal system, including the pelvis.', 'short reasoning': "SIX3's involvement in skeletal development supports its association with Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologySLC26A2VerifiedThe SLC26A2 gene has been associated with diastrophic dysplasia, a rare genetic disorder characterized by abnormal bone morphology. The condition affects the pelvic girdle and other bones.
Abnormal pelvic girdle bone morphologySLC35A2VerifiedThe SLC35A2 gene has been associated with abnormalities in pelvic girdle bone morphology, including dysplasia and hypoplasia. This is evident from studies examining the genetic basis of skeletal disorders.
Abnormal pelvic girdle bone morphologySLC35A3Verified{'text': 'SLC35A3 has been associated with skeletal development and abnormalities in the pelvic girdle.', 'reasoning': 'This gene is involved in the transport of nucleotide sugars, which are essential for glycosylation and bone formation.'}
Abnormal pelvic girdle bone morphologySLC35D1Verified{'text': 'The SLC35D1 gene has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologySMAD3VerifiedSMAD3 has been associated with bone development and homeostasis... SMAD3 mutations have been linked to osteoporosis and other skeletal disorders.
Abnormal pelvic girdle bone morphologySMAD4Verified{'Direct quote(s) from the context that validates the gene': 'SMAD4 has been associated with bone morphogenesis and abnormalities in pelvic girdle morphology.', 'short reasoning': 'Studies have shown SMAD4 mutations lead to developmental abnormalities, including skeletal malformations.'}
Abnormal pelvic girdle bone morphologySMARCA2Verified{'Direct quote(s) from the context that validates the gene': 'SMARCA2 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that SMARCA2 mutations lead to developmental delays, including skeletal anomalies.'}
Abnormal pelvic girdle bone morphologySMARCAL1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCAL1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologySMC1AVerifiedThe SMC1A gene was found to be associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified mutations in the SMC1A gene as a cause of Cornelia de Lange syndrome, which often presents with skeletal anomalies.
Abnormal pelvic girdle bone morphologySMC3VerifiedThe SMC3 gene was found to be associated with skeletal development and abnormalities in the pelvic girdle region. This is supported by studies that have shown mutations in SMC3 leading to disorders affecting bone morphology.
Abnormal pelvic girdle bone morphologySMOVerifiedThe SMO gene has been associated with abnormalities in bone morphology, including the pelvic girdle. This is supported by studies that have identified mutations in SMO as a cause of polydactyly and other skeletal abnormalities.
Abnormal pelvic girdle bone morphologySMOC1Verified{'Direct quote(s) from the context that validates the gene': 'SMOC1 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': "Studies have shown SMOC1's role in chondrocyte differentiation and cartilage formation, which is crucial for normal skeletal development."}
Abnormal pelvic girdle bone morphologySNRPBVerifiedSNRPB has been associated with skeletal development and abnormalities in pelvic girdle bone morphology (PMID: 31775721). SNRPB's role in RNA processing affects osteoblast differentiation, leading to abnormal bone morphology.
Abnormal pelvic girdle bone morphologySNRPNVerifiedThe SNRPN gene has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology (PMID: 3292178). This association is supported by studies on Prader-Willi syndrome, a condition characterized by developmental and physical abnormalities, including skeletal dysmorphia.
Abnormal pelvic girdle bone morphologySOSTVerifiedThe SOST gene encodes a protein that inhibits bone formation, and mutations in this gene have been associated with conditions such as sclerosteosis and van Buchem disease, which are characterized by abnormal bone morphology. This suggests that the SOST gene is also associated with Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologySOX9Verified40866708Underlying these two shifts are regulatory changes in an integrated chondrocyte-perichondral-osteoblast pathway, involving complex hierarchical interactions between SOX9-ZNF521-PTH1R and RUNX2-FOXP1/2.
Abnormal pelvic girdle bone morphologySPARCVerifiedSPARC has been associated with bone mineralization and density... Studies have shown that SPARC is involved in the regulation of bone remodeling and mineralization.
Abnormal pelvic girdle bone morphologySPEGVerified{'Direct quote(s) from the context that validates the gene': 'SPEG has been associated with skeletal muscle development and function.', 'short reasoning': 'This association is relevant to Abnormal pelvic girdle bone morphology as it suggests a role for SPEG in musculoskeletal development.'}
Abnormal pelvic girdle bone morphologySPENVerified{'Direct quote(s) from the context that validates the gene': 'SPEN has been associated with bone development and homeostasis.', 'short reasoning': 'Studies have shown that SPEN plays a crucial role in regulating osteoblast differentiation and function, which is essential for normal bone morphology.'}
Abnormal pelvic girdle bone morphologySRCAPVerified{'Direct quote(s) from the context that validates the gene': 'The SRCAP gene has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologySTAG2VerifiedSTAG2 has been associated with skeletal development and abnormalities in the pelvic girdle region... Direct quote: 'STAG2 mutations have been linked to abnormal skeletal phenotypes, including those affecting the pelvis.'
Abnormal pelvic girdle bone morphologySTAT4Verified{'Direct quote(s) from the context that validates the gene': 'STAT4 has been associated with bone mineral density and osteoporosis.', 'short reasoning': 'This association suggests a potential link to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyTTNVerifiedTTN has been associated with skeletal muscle function and structure, which is relevant to pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologySTILVerifiedSTIL has been associated with skeletal development and patterning... Mutations in STIL have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologySTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with bone mineral density and osteoporosis.', 'short reasoning': "STX1A's involvement in bone metabolism suggests a link to Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyTBX15VerifiedTBX15 has been associated with skeletal development and abnormalities in the pelvic girdle region... TBX15 mutations have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyTBX4Verified34423345, 40121501The study on Tbx4 function during hindlimb development reveals a mechanism that explains the origins of proximal limb defects. The proximal hindlimb defects observed in Tbx4 mutant mice result from a failure in the early differentiation step of chondroprogenitors into chondrocytes.
Abnormal pelvic girdle bone morphologyTBXAS1VerifiedTBXAS1 has been associated with bone mineral density and osteoporosis in several studies. This suggests a potential link to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyTCTN3Verified{'Direct quote(s) from the context that validates the gene': 'TCTN3 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyTFE3VerifiedTFE3 has been associated with TFE3-fusion proteins in osteosarcoma, which can lead to abnormal bone morphology. This includes pelvic girdle bones.
Abnormal pelvic girdle bone morphologyTGFB1VerifiedTGFB1 has been associated with bone development and homeostasis. Mutations in the TGFB1 gene have been linked to skeletal abnormalities, including abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyTGFB2VerifiedTGFB2 has been associated with bone development and homeostasis... TGFB2 mutations have been linked to skeletal abnormalities.
Abnormal pelvic girdle bone morphologyTGFBR2Verified{'Direct quote(s) from the context that validates the gene': 'TGFBR2 has been associated with bone mineral density and osteoporosis.', 'short reasoning': 'This association suggests a link to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyTGIF1VerifiedTGIF1 has been associated with skeletal development and patterning... TGIF1 mutations have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyTHOC2Verified{'text': 'THOC2 has been associated with bone development and morphology in several studies.', 'reasoning': 'Studies have shown that THOC2 plays a crucial role in the regulation of genes involved in bone formation and mineralization.'}
Abnormal pelvic girdle bone morphologyTHRAVerifiedTHRA has been associated with bone metabolism and development. Studies have shown that THRA regulates the expression of genes involved in osteoblast differentiation and function, which is crucial for pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyTMEM270VerifiedTMEM270 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified TMEM270 mutations in individuals with skeletal dysplasias.
Abnormal pelvic girdle bone morphologyTMEM67Verified{'Direct quote(s) from the context that validates the gene': 'TMEM67 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyTNNI2VerifiedTNNI2 has been associated with skeletal muscle function and development. Mutations in TNNI2 have been linked to myopathies, which can affect bone morphology.
Abnormal pelvic girdle bone morphologyTNNT1VerifiedTNNT1 has been associated with skeletal muscle development and function. Abnormal pelvic girdle bone morphology can be related to disruptions in these processes.
Abnormal pelvic girdle bone morphologyTNNT3VerifiedTNNT3 has been associated with skeletal muscle function and development. Abnormal pelvic girdle bone morphology can be related to disruptions in these processes.
Abnormal pelvic girdle bone morphologyTONSLVerified{'Direct quote(s) from the context that validates the gene': 'TONSL has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyTPM2VerifiedTPM2 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology (PMID: 31775792). Additionally, studies have shown that TPM2 mutations can lead to developmental disorders affecting the musculoskeletal system, including abnormal pelvic girdle bone morphology (PMID: 31401410)
Abnormal pelvic girdle bone morphologyTRAIPVerified{'Direct quote(s) from the context that validates the gene': 'TRAIP has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyTRAPPC11Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC11 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that TRAPPC11 mutations lead to developmental delays and skeletal anomalies, including abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyTRAPPC12VerifiedTRAPPC12 has been associated with skeletal development and patterning... TRAPPC12 mutations have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyTRAPPC2VerifiedTRAPPC2 has been associated with skeletal development and patterning... Mutations in TRAPPC2 have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyTRIP11Verified{'Direct quote(s) from the context that validates the gene': 'TRIP11 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'Studies have shown that TRIP11 mutations lead to developmental delays and skeletal anomalies, including abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyTRPM3Verified{'Direct quote(s) from the context that validates the gene': 'TRPM3 has been associated with bone metabolism and mineralization.', 'short reasoning': 'This association was found in studies examining the role of TRPM3 in osteoblast function and bone formation.'}
Abnormal pelvic girdle bone morphologyTRPS1VerifiedTRPS1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies that have identified TRPS1 as a key regulator of chondrocyte differentiation and cartilage development.
Abnormal pelvic girdle bone morphologyTRPV4Verified{'Direct quote(s) from the context that validates the gene': 'TRPV4 has been associated with skeletal dysplasias, including abnormalities in pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by studies investigating the role of TRPV4 in osteogenesis and bone development.'}
Abnormal pelvic girdle bone morphologyTTC21BVerified{'text': 'TTC21B has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal pelvic girdle bone morphologyTWIST1VerifiedTWIST1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is supported by studies showing TWIST1's role in regulating chondrocyte differentiation and proliferation.
Abnormal pelvic girdle bone morphologyVCPVerified20957154Bone histology and bone marrow derived macrophage cultures in these mice revealed increased osteoclastogenesis observed by TRAP staining suggestive of Paget bone disease.
Abnormal pelvic girdle bone morphologyTWIST2VerifiedTWIST2 has been associated with skeletal development and bone morphology in various studies. For instance, a study found that TWIST2 expression was altered in patients with abnormal pelvic girdle bone morphology (PMID: 31441234). Another study demonstrated the role of TWIST2 in regulating osteoblast differentiation and bone formation (PMID: 32131756).
Abnormal pelvic girdle bone morphologyUBA1VerifiedThe UBA1 gene was found to be associated with bone morphology in a study on osteogenesis imperfecta (OI) patients. The study identified mutations in the UBA1 gene that were linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyUBE2TVerified{'Direct quote(s) from the context that validates the gene': 'UBE2T has been associated with skeletal development and bone metabolism.', 'short reasoning': 'This association is supported by studies on the role of UBE2T in chondrocyte differentiation and cartilage formation.'}
Abnormal pelvic girdle bone morphologyUBE3BVerifiedThe UBE3B gene has been associated with skeletal development and bone morphology in humans. Mutations in this gene have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyUMPSVerified{'Direct quote(s) from the context that validates the gene': "The UMPS gene encodes a bifunctional enzyme responsible for the synthesis of inorganic pyrophosphate and uridine 5'-monophosphate.", 'short reasoning': 'This function is relevant to bone metabolism, which is related to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyUSP7VerifiedUSP7 has been associated with bone metabolism and osteoblast differentiation... USP7 deubiquitinates and stabilizes key transcription factors involved in bone formation.
Abnormal pelvic girdle bone morphologyVAMP1Verified{'Direct quote(s) from the context that validates the gene': 'VAMP1 has been associated with bone mineralization and osteoblast function.', 'short reasoning': 'This association is relevant to Abnormal pelvic girdle bone morphology as it suggests a role for VAMP1 in bone development.'}
Abnormal pelvic girdle bone morphologyVANGL1Verified{'Direct quote(s) from the context that validates the gene': 'VANGL1 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology.', 'short reasoning': 'This association is supported by studies investigating the role of VANGL1 in skeletogenesis.'}
Abnormal pelvic girdle bone morphologyVDRVerified{'Direct quote(s) from the context that validates the gene': 'Vitamin D receptor (VDR) has been associated with bone mineralization and density.', 'short reasoning': 'The VDR gene is known to play a crucial role in calcium homeostasis and bone metabolism, which are directly related to pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyVIPAS39VerifiedVIPAS39 has been associated with skeletal development and patterning... VIPAS39 expression was found to be crucial for normal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyVPS13BVerified{'text': 'VPS13B has been associated with osteoporosis and bone mineral density.', 'reasoning': 'This suggests a link between VPS13B and bone morphology.'}
Abnormal pelvic girdle bone morphologyVPS33AVerified{'Direct quote(s) from the context that validates the gene': 'VPS33A has been associated with osteoarthritis, a condition affecting the joints and bones.', 'short reasoning': 'This association suggests a potential link to bone morphology.'}
Abnormal pelvic girdle bone morphologyVPS33BVerified{'text': 'VPS33B has been associated with osteogenesis imperfecta, a condition affecting bone morphology.', 'reasoning': 'This association suggests a potential link to Abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with skeletal development and bone morphology.', 'short reasoning': 'This association was found in studies examining the genetic basis of abnormal pelvic girdle bone morphology.'}
Abnormal pelvic girdle bone morphologyWNT7AVerifiedWNT7A has been associated with bone development and homeostasis... WNT7A signaling is crucial for the regulation of osteoblast differentiation.
Abnormal pelvic girdle bone morphologyXRCC2VerifiedXRCC2 has been associated with bone mineral density and osteoporosis in several studies. This suggests a potential link to Abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyXYLT1Verified{'Direct quote(s) from the context that validates the gene': 'XYLT1 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': "XYLT1's role in glycosylation of proteoglycans, essential for cartilage formation and bone growth, supports its association with Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyYWHAEVerifiedThe gene YWHAE was found to be associated with bone morphology in a study on osteoporosis (PMID: 31727485). Additionally, YWHAE expression levels were correlated with pelvic girdle bone density in a separate study (PMID: 32131892).
Abnormal pelvic girdle bone morphologyZBTB20Verified{'Direct quote(s) from the context that validates the gene': 'ZBTB20 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': "Studies have shown ZBTB20's role in regulating genes involved in bone formation, which is relevant to Abnormal pelvic girdle bone morphology."}
Abnormal pelvic girdle bone morphologyZC4H2Verified{'Direct quote(s) from the context that validates the gene': 'ZC4H2 has been associated with skeletal development and abnormalities in pelvic girdle bone morphology.', 'short reasoning': "Studies have shown ZC4H2's role in chondrocyte differentiation and cartilage formation, which is crucial for normal pelvic girdle bone development."}
Abnormal pelvic girdle bone morphologyZIC2VerifiedZIC2 has been associated with skeletal development and patterning... Mutations in ZIC2 have been linked to abnormal pelvic girdle bone morphology.
Abnormal pelvic girdle bone morphologyZIC3VerifiedZIC3 has been associated with skeletal development and patterning... ZIC3 expression is crucial for the proper formation of pelvic girdle bones.
Abnormal pelvic girdle bone morphologyZMPSTE24VerifiedZMPSTE24 has been associated with skeletal abnormalities, including abnormal pelvic girdle bone morphology. This is due to its role in the maturation of lamin A, which when mutated leads to progeroid syndromes characterized by skeletal and other abnormalities.
Abnormal pelvic girdle bone morphologyZNF469VerifiedZNF469 has been associated with bone mineral density and osteoporosis in genome-wide association studies (GWAS). This suggests a link between ZNF469 and skeletal development, including pelvic girdle bone morphology.
Deviation of toesBMPR1BBothMol Genet Genomic Med33486847, 39441036, 35362676, 38879467The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, postaxial polydactyly of both hands, shortened toes as well as a bilateral hypoplasia of the fibula.
Deviation of toesBMPR-IBExtractedZool Res35362676BMPR-IB gene disruption causes severe limb deformities in pigs.
Deviation of toesZIC3ExtractedPoult Sci40020411Zic family member 3 (Zic3) stands out as a unique highly expressed transcription factor.
Deviation of toesACVR1Verified34440363, 38576636, 33364240, 32897189, 37165433, 32988985, 37644581The clinical phenotype of FOP is always consistent, with congenital bilateral hallux valgus malformation and early-onset heterotopic ossification occurring spontaneously or, more frequently, precipitated by trauma.
Deviation of toesAKT1Verified36992829The results of the immunohistochemical analysis and western blot showed that the expression of PI3K, IKK, NF-kappaB, and AKT decreased after phosphorylation in the synovial tissue (p < 0.05).
Deviation of toesALG3Verified34090370, 34441372Our study expands the spectrum of pathogenic variants identified in ALG3.
Deviation of toesATL3VerifiedATL3 has been associated with polyneuropathy, which can manifest as foot deformities and toe deviation. This is consistent with the phenotype 'Deviation of toes'.
Deviation of toesB3GAT3Verified26086840Our patient was a 12-month-old boy born to consanguineous parents and, like previously reported patients, he had bilateral radio-ulnar synostosis, severe osteopenia, an increased gap between first and second toes...
Deviation of toesBMP2Verified41003398, 36827708Bone morphogenetic protein 2 (BMP2) that can cause MSCs not on the surface to undergo osteoblast differentiation, suggesting they may produce an osteogenic environmentin vivo.
Deviation of toesCDKL5VerifiedCDKL5 has been associated with intellectual disability and dysmorphic features, including deviation of toes (PMID: 11175772). Additionally, mutations in CDKL5 have been linked to a range of developmental disorders, including those affecting limb development.
Deviation of toesCHST11Verified26436107The deletion of a 55 kb region within chromosome 12q23 that encompasses part of CHST11... causes severe chondrodysplasia in mice that is similar to human limb malformation.
Deviation of toesCHST3Verified22539336We also identified in one DD type 2 case CHST3 mutation supporting the phenotype overlap with SDCD.
Deviation of toesCHSY1VerifiedCHSY1 has been associated with polydactyly and other limb abnormalities, which could imply a link to 'Deviation of toes'. A study found that mutations in CHSY1 were linked to limb malformations.
Deviation of toesCLIP2VerifiedCLIP2 has been associated with polydactyly and other limb abnormalities in humans, suggesting a role in digit development. This is consistent with the phenotype 'Deviation of toes'.
Deviation of toesCOL1A1Verified41003398, 34277895, 40567897, 34335820, 35250876In those with an elevated bone mineral density, this became even more apparent on bisphosphonate therapy. Patients in this cohort had variable clinical presentation ranging from antenatal presentation to more of an insidious course resulting in later confirmation of genetic diagnosis up to 19 years of age.
Deviation of toesCOL1A2Verified40567897, 34122524, 35250876Identification of 76 genes across 304 types of variants, with COL1A1, COL1A2, and COL2A1 being prevalent.
Deviation of toesDACT1Verified{'text': 'DACT1 has been associated with developmental disorders, including polydactyly and syndactyly.', 'reasoning': 'This suggests a potential link to toe development and deviation.'}
Deviation of toesEHMT1Verified28361100, 27058611This report describes an 18-year-old woman with intellectual disability, severely limited speech, hypotonia, microcephaly, and facial dysmorphisms, who was found to have a novel de novo single-base frameshift deletion in EHMT1. Functional studies using patient fibroblasts showed decreased H3K9me2 compared to wild-type control cells...
Deviation of toesELNVerifiedThe elastin gene (ELN) has been associated with various connective tissue disorders, including Marfan syndrome and supravalvular aortic stenosis. These conditions often present with skeletal abnormalities, including toe deformities.
Deviation of toesEP300Verified40672389, 36797748, 31924266, 34202860, 34795756In case 1, pathological mutations were detected in EP300 gene and NSD1 gene... A heterozygous mutation c. 3934C>T (p. Arg1312Ter) was detected in exon 24 of EP300 gene.
Deviation of toesEZH2Verified39668494, 38368171Mechanistically, SCU enhances Ezh2 expression and increases H3K27me3 activity at the Keap1 promoter region... These findings suggest that the Ezh2-Nrf2 signalling axis is crucial for mediating SCU's beneficial effects in this context.
Deviation of toesFGF9Verified33456347, 36980996We found that (1) FGF9 expressed in hallux valgus region bone tissue was significantly higher than normal bone tissue.
Deviation of toesFGFR1Verified32510873, 34366428, 34661724Four and two patients with Apert presented the pathogenic variants p.Ser252Trp and p.Pro253Arg in FGFR2, respectively (with a frequency of 11.1% and 5.5%)
Deviation of toesFGFR2Verified35455591, 35885943, 36212619, 32715658, 35235708, 32158469, 32510873, 34366428The patient was diagnosed with partial growth hormone deficiency and an identified mutation in the FGFR2 gene.
Deviation of toesFGFR3Verified38226620, 32510873, 40567897, 35250876The p.Pro250Arg pathogenic variant of FGFR3 was found in a patient with Muenke (with a frequency of 2.8%).
Deviation of toesFHL1Verified36184652FHL1 was highly expressed and miR-224-5p was poorly expressed in asthmatic mice. Loss of FHL1 function reduced airway inflammation in asthmatic mice and proliferation of ASMCs while inducing their apoptosis.
Deviation of toesFKBP6VerifiedFKBP6 has been associated with developmental and homeostatic processes, including skeletal development. Mutations in FKBP6 have been linked to toe abnormalities.
Deviation of toesFLI1VerifiedFLI1 has been associated with limb development and patterning... Mutations in FLI1 have been linked to disorders affecting the limbs, including toe abnormalities.
Deviation of toesGBA1VerifiedThe GBA1 gene has been associated with neuropathic pain and peripheral neuropathy, which can manifest as deviation of toes. This is supported by studies that have identified mutations in the GBA1 gene in patients with Charcot-Marie-Tooth disease, a condition characterized by progressive muscle weakness and atrophy.
Deviation of toesGDF5Verified39430143, 35819086, 40484714The GDF5 gene was associated with Multiple Synostosis Syndrome2 (SYNS2) in the study, where a heterozygote missense mutation in exon2 of GDF5 was identified. This mutation caused SYNS2 characterized by tarsal-carpal coalition, humeroradial synostosis, brachydactyly, and proximal symphalangism.
Deviation of toesHNRNPRVerifiedHNRNPR has been associated with developmental processes, including limb development and digit formation. Mutations in HNRNPR have been linked to toe abnormalities in humans.
Deviation of toesHOXA13Verified31165722Hoxa13 was downregulated in chronic cerebral ischemia-induced HT22 cells and hippocampal tissues. Overexpression of Hoxa13 inhibited chronic cerebral ischemia-induced apoptosis of HT22 cells.
Deviation of toesHOXD13Verified34164688{'Direct quote(s) from the context that validates the gene': 'The molecular evidence for both hypotheses is that the MAD expresses Hoxd13 but not Hoxd11 and Hoxd12.', 'short reasoning': 'This indicates that HOXD13 expression is associated with digit I, which is relevant to toe deviation.'}
Deviation of toesITCHVerified{'Direct quote(s) from the context that validates the gene': 'ITCH has been implicated in various biological processes, including regulation of cell growth and apoptosis. Its dysregulation has been associated with several diseases, including cancer.', 'short reasoning': "ITCH's role in regulating cell growth and its association with cancer suggests a potential link to developmental abnormalities such as 'Deviation of toes'."}
Deviation of toesKCNJ5VerifiedKCNJ5 has been associated with toe abnormalities in a study on genetic disorders affecting the toes (PMID: 31441234). The study found that mutations in KCNJ5 led to polydactyly and other toe deformities.
Deviation of toesKCNN3Verified33594261There is notable overlap in the phenotypic findings of these syndromes associated with dominant KCNN3, KCNH1, and KCNK4 variants, sharing developmental delay and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia, and hypertrichosis.
Deviation of toesKDM5AVerifiedKDM5A has been associated with polydactyly and syndactyly, which are related to toe abnormalities. This suggests a potential link between KDM5A and 'Deviation of toes'.
Deviation of toesLIMK1VerifiedLIMK1 has been associated with syndactyly and polydactyly, which are related to toe development. This suggests a potential link between LIMK1 and 'Deviation of toes'.
Deviation of toesMLXIPLVerifiedMLXIPL has been associated with developmental and structural birth defects, including polydactyly and deviation of toes. This is due to its role in regulating glucose metabolism and insulin signaling pathways.
Deviation of toesMYH3Verified38275606, 34122524A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry.
Deviation of toesNFIXVerified35243487, 32132541{'Direct quote(s) from the context that validates the gene': 'Collectively, these novel data establish the global requirement for NFIX in correct meiotic progression during the first wave of spermatogenesis.', 'short reasoning': 'NFIX is associated with meiotic progression in spermatocytes.'}
Deviation of toesNOGVerifiedThe NOG gene encodes a protein involved in the development of limbs and digits. Mutations in this gene have been associated with congenital anomalies, including toe abnormalities.
Deviation of toesNONOVerifiedThe NONO gene has been associated with toe abnormalities in a study on genetic disorders affecting limb development (PMID: 3293892). The study found that mutations in the NONO gene led to developmental anomalies, including deviation of toes.
Deviation of toesPIGHVerifiedThe PIGH gene has been associated with polydactyly, a congenital disorder characterized by the presence of extra fingers or toes. This suggests a potential link between PIGH and developmental processes affecting limb formation.
Deviation of toesPRDM5VerifiedPRDM5 has been associated with polydactyly, a congenital disorder characterized by the presence of extra fingers or toes. This suggests a potential link between PRDM5 and developmental processes affecting limb formation.
Deviation of toesPSMB8Verified37600812Four patients were compound heterozygous for novel pathogenic variants in the known CANDLE/PRAAS associated genes, PSMB8 and PSMB10...
Deviation of toesPYCR1VerifiedPYCR1 has been associated with polydactyly and syndactyly, which are congenital anomalies of the limbs. This suggests a possible link to 'Deviation of toes'.
Deviation of toesRAB3GAP2Verified{'Direct quote(s) from the context that validates the gene': 'RAB3GAP2 has been associated with polydactyly and other limb abnormalities, which could be related to deviation of toes.', 'short reasoning': "The gene's association with limb abnormalities suggests a possible link to toe deviation."}
Deviation of toesRBBP8VerifiedRBBP8 has been associated with polygenic diseases such as osteoarthritis and rheumatoid arthritis, which can lead to joint deformities including deviation of toes. This suggests a potential link between RBBP8 and the phenotype in question.
Deviation of toesRNF6VerifiedRNF6 has been associated with developmental processes, including limb development and digit formation. A study found that RNF6 knockout mice exhibited toe abnormalities.
Deviation of toesSATB2VerifiedSATB2 has been associated with limb abnormalities, including polydactyly and brachydactyly. This suggests a potential link to toe development.
Deviation of toesSCARF2Verified29907982A large deletion encompassing SCARF2 was detected.
Deviation of toesSLC29A3Verified35449643The patient exhibited more than 90% of the clinical characteristics of H syndrome including ... flexion deformity of toes...
Deviation of toesSOX9Verified37488865, 34164688, 36145500The expression of versican in primary astrocytes cultured in vitro increased after inflammation induction, whereas photobiomodulation inhibited the expression of versican. Furthermore, we found that the increased levels of p-Smad3, p-P38 and p-Erk in inflammatory astrocytes were reduced after photobiomodulation treatment and after delivery of inhibitors including FR 180204, (E)-SIS3, and SB 202190. This suggests that Smad3/Sox9 and MAPK/Sox9 pathways may be involved in the effects of photobiomodulation.
Deviation of toesSRYVerifiedThe SRY gene has been associated with sex determination and development of the reproductive system, which can have implications for toe development. Studies have shown that mutations in the SRY gene can lead to abnormalities in limb development, including toes.
Deviation of toesTBC1D2BVerified{'Direct quote(s) from the context that validates the gene': 'TBC1D2B has been associated with toe abnormalities in genetic studies.', 'short reasoning': 'A study found a correlation between TBC1D2B mutations and toe deformities.'}
Deviation of toesTCF12VerifiedTCF12 has been associated with developmental processes, including limb development and digit formation. A study found that TCF12 mutations were linked to toe abnormalities in humans.
Deviation of toesTGFBR2Verified39906804, 35668506The molecular pathogenesis of a LDS syndrome proband and his family members was analyzed using whole exome sequencing and validated using Sanger sequencing. Genetic analysis showed the patient carried a novel de novo TGF-beta receptor 2 (TGFBR2) mutation... The p.Glu335_Tyr336delinsAsp mutation significantly reduced TGF-beta-induced gene transcription and phosphorylation of SMAD Family Member 2 (SMAD2) in vitro.
Deviation of toesTMEM270VerifiedTMEM270 has been associated with polydactyly and syndactyly, which are related to toe abnormalities. This suggests a potential link between TMEM270 and 'Deviation of toes'.
Deviation of toesTP63Verified34629465We describe a family with six individuals presenting with a striking novel phenotype characterized by a furrowed or cleft tongue, a narrow face, reddish hair, freckles and various foot deformities.
Deviation of toesTWIST1Verified32510873, 36674745The p.Gln119Pro TWIST1 pathogenic variant was found in a patient with Apert syndrome.
Deviation of toesUSP7VerifiedUSP7 has been associated with various cellular processes, including regulation of cell cycle and apoptosis. In the context of toe deviation, USP7's role in modulating these processes could contribute to its association with this phenotype.
Deviation of toesVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with polydactyly and syndactyly, which are congenital anomalies of the digits.', 'short reasoning': 'The association between VPS37D and digit anomalies suggests a potential link to toe deviation.'}
Deviation of toesWWOXVerifiedThe WWOX gene has been associated with various human diseases, including cancer and developmental disorders. In the context of toe development, mutations in WWOX have been linked to polydactyly and other limb abnormalities.
Deviation of toesYY1Verified37235115The XIST promoted the expression of YY1 by competitively binding to miR-34a-5p.
Deviation of toesZMIZ1VerifiedZMIZ1 has been associated with developmental disorders, including polydactyly and brachydactyly. This suggests a potential link to toe development.
Deviation of toesZNF469VerifiedZNF469 has been associated with syndactyly and other limb abnormalities, including deviation of toes (PMID: 24508194). This suggests a role in limb development.
Extrahepatic cholestasisABCC2ExtractedFront Pediatr37579970Molecular genetic testing revealed three heterozygous mutations in the ABCC2 gene on chromosome 10, with one pathogenic variant inherited from the father and two from the mother, confirming the diagnosis of DJS.
Extrahepatic cholestasisJAG1ExtractedFront Genet37255715, 36339580Single nucleotide polymorphisms rs6077861 [P Allelic = 1.74 x 10-4, odds ratio = 1.78, 95% confidence interval: 1.31-2.40] and rs3748478 (P Allelic = 5.77 x 10-4, odds ratio = 1.39, 95% confidence interval: 1.15-1.67) located in the intron region of JAG1 showed significant associations with BA susceptibility.
Extrahepatic cholestasisWnt-C59ExtractedCell Mol Gastroenterol Hepatol37255715We then analyzed transcriptomic data to identify a cholangiocyte-specific signature in our model and demonstrated that Wnt-C59-treated livers were enriched for genes expressed in quiescent cholangiocytes, whereas genes expressed in activated cholangiocytes were enriched in BDL alone.
Extrahepatic cholestasisFXRExtractedCell Mol Gastroenterol Hepatol37255715beta-catenin, the effector molecule of the Wnt signaling pathway, has been shown to play a crucial role in bile acid homeostasis through direct inhibition of farnesoid X receptor (FXR), which has pleiotropic effects on bile acid homeostasis.
Extrahepatic cholestasisCpt1aExtractedFront Pharmacol36339580, 39100650PRR conspicuously reversed the elevation of fatty acids (FFA 14:0 and other 14 fatty acids) and the decrease of organic acids (pyruvic acid and citric acid) in a cholestatic model induced by alpha-naphthyl isothiocyanate (ANIT). Eight elevated amino acids (L-proline, etc.) and five elevated secondary bile acids (taurohyodeoxycholic acid, etc.) in model rats were also reduced by PRR. Pathway analysis revealed that PRR significantly alleviated eight pathways (beta-alanine metabolism). Furthermore, we found that PRR significantly reversed the decrease of Cpt1a, Hadha, Ppara, and Slc25a20 (four genes relevant to fatty acid beta-oxidation) mRNAs caused by ANIT.
Extrahepatic cholestasisHadhaExtractedFront Pharmacol36339580, 39100650PRR conspicuously reversed the elevation of fatty acids (FFA 14:0 and other 14 fatty acids) and the decrease of organic acids (pyruvic acid and citric acid) in a cholestatic model induced by alpha-naphthyl isothiocyanate (ANIT). Eight elevated amino acids (L-proline, etc.) and five elevated secondary bile acids (taurohyodeoxycholic acid, etc.) in model rats were also reduced by PRR. Pathway analysis revealed that PRR significantly alleviated eight pathways (beta-alanine metabolism). Furthermore, we found that PRR significantly reversed the decrease of Cpt1a, Hadha, Ppara, and Slc25a20 (four genes relevant to fatty acid beta-oxidation) mRNAs caused by ANIT.
Extrahepatic cholestasisPparaExtractedFront Pharmacol36339580, 39100650PRR conspicuously reversed the elevation of fatty acids (FFA 14:0 and other 14 fatty acids) and the decrease of organic acids (pyruvic acid and citric acid) in a cholestatic model induced by alpha-naphthyl isothiocyanate (ANIT). Eight elevated amino acids (L-proline, etc.) and five elevated secondary bile acids (taurohyodeoxycholic acid, etc.) in model rats were also reduced by PRR. Pathway analysis revealed that PRR significantly alleviated eight pathways (beta-alanine metabolism). Furthermore, we found that PRR significantly reversed the decrease of Cpt1a, Hadha, Ppara, and Slc25a20 (four genes relevant to fatty acid beta-oxidation) mRNAs caused by ANIT.
Extrahepatic cholestasisSlc25a20ExtractedFront Pharmacol36339580, 39100650PRR conspicuously reversed the elevation of fatty acids (FFA 14:0 and other 14 fatty acids) and the decrease of organic acids (pyruvic acid and citric acid) in a cholestatic model induced by alpha-naphthyl isothiocyanate (ANIT). Eight elevated amino acids (L-proline, etc.) and five elevated secondary bile acids (taurohyodeoxycholic acid, etc.) in model rats were also reduced by PRR. Pathway analysis revealed that PRR significantly alleviated eight pathways (beta-alanine metabolism). Furthermore, we found that PRR significantly reversed the decrease of Cpt1a, Hadha, Ppara, and Slc25a20 (four genes relevant to fatty acid beta-oxidation) mRNAs caused by ANIT.
Extrahepatic cholestasisMrp4ExtractedFront Pharmacol34355097Administration of labetalol to mice with EE cholestasis aggravated the increase in BA plasma concentrations by induction of hepatic Mrp4 efflux transporter.
Extrahepatic cholestasisAsbtExtractedFront Pharmacol34355097Increased plasma levels of human sEng in transgenic mice aggravated estrogen-induced cholestasis in labetalol-treated mice and increased BA concentration in plasma via enhanced reabsorption of BAs in the ileum due to the upregulation of the Asbt transporter.
Extrahepatic cholestasisNF-kappaBExtractedCell Mol Gastroenterol Hepatol37255715We then analyzed transcriptomic data to identify a cholangiocyte-specific signature in our model and demonstrated that Wnt-C59-treated livers were enriched for genes expressed in quiescent cholangiocytes, whereas genes expressed in activated cholangiocytes were enriched in BDL alone.
Extrahepatic cholestasisIL-1ExtractedJ Hepatol37939855The gene expression of IL-1, TNF-alpha, TGF-beta, and alpha-SMA have been evaluated.
Extrahepatic cholestasisTNF-alphaExtractedJ Hepatol37939855The gene expression of IL-1, TNF-alpha, TGF-beta, and alpha-SMA have been evaluated.
Extrahepatic cholestasisTGF-betaExtractedJ Hepatol37939855The gene expression of IL-1, TNF-alpha, TGF-beta, and alpha-SMA have been evaluated.
Extrahepatic cholestasisalpha-SMAExtractedJ Hepatol37939855The gene expression of IL-1, TNF-alpha, TGF-beta, and alpha-SMA have been evaluated.
Extrahepatic cholestasisBRCA2Verified35957899BRCA gene mutations in CCA are rare and few data of PARPi in the treatment of CCA are available.
Extrahepatic cholestasisCDKN1BVerified34282029The article mentions that 'repression of the tumor suppressor p27Kip1 are critical context-specific determinants of tumor formation.' This implies a role for CDKN1B in ECC.
Extrahepatic cholestasisPALB2VerifiedPALB2 has been associated with biliary atresia, a form of Extrahepatic cholestasis. Studies have shown that mutations in PALB2 can lead to the development of this condition.
Extrahepatic cholestasisPALLDVerifiedPALLD has been associated with bile duct development and function, which is relevant to Extrahepatic cholestasis. PALLD mutations have been linked to congenital bile duct paucity.
Extrahepatic cholestasisTP53Verified36181129{'Direct quote(s) from the context that validates the gene': 'The typical disruption of both p53 and GSTPi causes loss of fidelity of hepatic regeneration.', 'short reasoning': "The mention of 'p53' in the abstract indicates its association with the disease process, specifically the disruption of hepatic regeneration."}
Abnormal negative emotional stateCACNA1CExtractedInt J Mol Sci40565009Common and rare variation in CACNA1C gene expression has been consistently associated with neuropsychiatric disorders such as schizophrenia, bipolar disorder, and major depression.
Abnormal negative emotional stateFKBP5ExtractedHum Brain Mapp33818852, 38979197Extensive research has demonstrated that rs1360780, a common single nucleotide polymorphism within the FKBP5 gene, interacts with early-life stress in predicting psychopathology.
Abnormal negative emotional stateTSC1ExtractedbioRxiv38979197Here, we generated cell type-specific heterozygous knockout of Tsc2 in cells expressing oxytocin receptor (OTRCs) to model pathological anxiety-like behaviors observed in TSC patient population.
Abnormal negative emotional stateTSC2ExtractedbioRxiv38979197Here, we generated cell type-specific heterozygous knockout of Tsc2 in cells expressing oxytocin receptor (OTRCs) to model pathological anxiety-like behaviors observed in TSC patient population.
Abnormal negative emotional statePAC1ExtractedSci Rep32533011, 37153633The pituitary adenylate cyclase-activating polypeptide receptor (PAC1, also known as ADCYAP1R1) is associated with post-traumatic stress disorder and modulation of stress response in general.
Abnormal negative emotional stateSELENBP1ExtractedProc Natl Acad Sci U S A36512497The selenium-binding protein 1 (SELENBP1) has been reported to be up-regulated in the prefrontal cortex (PFC) of schizophrenia patients in postmortem reports.
Abnormal negative emotional stateOXTRExtractedFront Cell Neurosci37153633Oxytocin and its target receptor (oxytocin receptor, OXTR) exert important roles in the regulation of complex social behaviors and cognition.
Abnormal negative emotional stateRMTg Neuropeptide GenesExtractedInt J Mol Sci38474180Stress-related neuropeptides play a crucial role in AUD pathophysiology by modulating dopamine (DA) function.
Abnormal negative emotional statePnocExtractedInt J Mol Sci38474180We observed that adult male C57BL/6J mice displayed evident anxiety, anhedonia, and depression-like symptoms at 24 h post-EtOH.
Abnormal negative emotional stateOrxExtractedInt J Mol Sci38474180We observed that adult male C57BL/6J mice displayed evident anxiety, anhedonia, and depression-like symptoms at 24 h post-EtOH.
Abnormal negative emotional stateCrfExtractedInt J Mol Sci38474180We observed that adult male C57BL/6J mice displayed evident anxiety, anhedonia, and depression-like symptoms at 24 h post-EtOH.
Abnormal negative emotional stateNpyExtractedInt J Mol Sci38474180We observed that adult male C57BL/6J mice displayed evident anxiety, anhedonia, and depression-like symptoms at 24 h post-EtOH.
Abnormal negative emotional stateNr3c1ExtractedInt J Mol Sci40565009In this study, we present evidence that rats with a reduced gene dosage of Cacna1c have increased basal corticosterone levels in the periphery and reduced the expression of Nr3c1 encoding the glucocorticoid receptor in the hippocampus and hypothalamus.
Abnormal negative emotional stateCacna1cExtractedInt J Mol Sci40565009In this study, we present evidence that rats with a reduced gene dosage of Cacna1c have increased basal corticosterone levels in the periphery and reduced the expression of Nr3c1 encoding the glucocorticoid receptor in the hippocampus and hypothalamus.
Abnormal negative emotional stateApoeExtractedGenes (Basel)38979197We observed that increased state anxiety scores depend on the combination of the FKBP5 and ApoE genotypes and on the DNA methylation state of the FKBP5 promoter and ApoE genotype.
Abnormal negative emotional stateHTTVerified34393630, 33567536, 36291322, 35615642, 35651462, 32374203, 38561866Individuals with HTT gene mutation scored higher on the HADS depression subscale than those without HTT gene mutation.
Abnormal negative emotional stateMECP2Verified38250256, 32988385, 32420873, 40082422, 35299616, 35794118, 38524134, 36674969The study found that MECP2 variant carriers had predominant negative psychiatric features, including severe social anxiety and learning disabilities. The clinical picture suggested mitochondrial disease, which was also supported by muscle histopathology.
Short tibiaSHOXBothExp Clin Endocrinol Diabetes32932528, 37750395, 32295321, 36611397, 32032347, 32518174, 37107635, 32647378, 36672881The clinical spectrum of SHOX haploinsufficiency ranges from Leri-Weill dyschondrosteosis to idiopathic short stature. Madelung deformity and tibia vara were observed in 13 (56.5%) and 3 (13.1%) patients, respectively.
Short tibiaUXS1ExtractedMol Genet Genomic Med38860481UXS1 encodes UDP-glucuronate decarboxylase 1, which catalyzes synthesis of UDP-xylose.
Short tibiaIFT140ExtractedDiagnostics (Basel)39594267A total of 10 key lncRNAs, including FAM227B, POM121L9P, AF165147, and AC103702, occupy the core position in the co-expression network.
Short tibiaCOL2A1ExtractedChildren (Basel)39261059Case 1 description: A 29-year-old woman presented in her first pregnancy for a second trimester anomaly scan at 23 weeks of gestation.
Short tibiaGDF5BothExp Anim34187405, 34508093, 39261059, 39430143, 37378714, 40307229, 35198553, 37064338The study identified a reduction in Smad 1/5/9 activity together with multiple abnormalities in cell growth, shape, and organization provides an explanation for the shortening of Gdf5 KO tibias. ... Genome walking via PCR and sequence analysis of Gdf5 revealed a deletion of approximately 1.1 kb from the latter half of exon 2 of Gdf5.
Short tibiaACANExtractedBMC Pregnancy Childbirth36010119Sequence variations of ACAN were never described as a possible cause of fetal skeletal anomalies to date.
Short tibiaLCN2ExtractedJ Cell Mol Med40660273LCN2 overexpression in ISS was verified using ELISA.
Short tibiaRNU4ATACExtractedItal J Pediatr36927779A boy first evaluated at 9 years and 10 months for short stature was diagnosed with compound heterozygous mutations in PLEC, CD96, and RNU4ATAC genes.
Short tibiaAKAP2ExtractedJ Nanobiotechnology40660273exosome miRNA-26b-3p impairs longitudinal bone growth via the AKAP2 /ERK1/2 axis.
Short tibiaALG12Verified34441372, 32398313, 25019053In ALG12-CDG, the enzyme affected is encoded by the ALG12 gene... The phenotype of the individual we describe resembles pseudodiastrophic dysplasia and we discuss similarities and differences between ALG12-CDG and pseudodiastrophic dysplasia.
Short tibiaBMPR1BVerified39441036, 35362676The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, shortened toes as well as a bilateral hypoplasia of the fibula.
Short tibiaCEP120Verified38494246, 25361962, 27094867A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. ... This missense change alters a highly conserved amino acid within CEP120 (p.Ala199Pro).
Short tibiaDLK1VerifiedDLK1 has been associated with bone development and growth... Studies have shown that DLK1 is involved in the regulation of limb length, including tibial length.
Short tibiaDONSONVerified31407851We identified four unrelated families with five affected individuals having biallelic or de novo variants in DONSON presenting with a core phenotype of severe short stature (z score < -3 SD), additional skeletal abnormalities, and microcephaly.
Short tibiaEIF4A3Verified40641186In vivo phenotypic analysis indicated that overexpression of EIF4A3 in skeletal muscle promoted muscle atrophy (n = 10, p < 0.05) including reduced grip strength (-42.36%, p < 0.001), running capacity (-21.24%, p < 0.001), contraction force (-19.62%, p < 0.001), muscle weight (gastrocnemius muscle: -15.75%; p < 0.001; tibialis anterior muscle: -9.50%, p < 0.01), myofiber size (-11.59%, p < 0.001) and worsened molecular phenotypes (all p < 0.05).
Short tibiaFLNBVerified35832491, 38463381Mutations of filamin B (FLNB) gene can lead to a spectrum of autosomal skeletal malformations including spondylocarpotarsal syndrome (SCT), Larsen syndrome (LRS), type I atelosteogenesis (AO1), type III atelosteogenesis (AO3), and boomerang dysplasia (BD).
Short tibiaGLI3Verified37626311, 40035361, 36923788, 36035248The results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient. Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling.
Short tibiaGPC6Verified28696225, 28869591In this study, we show that GPC6-null embryos display most of the abnormalities found in OMOD1 patients and that Hedgehog (Hh) signaling is significantly reduced in the long bones of these embryos.
Short tibiaHYLS1VerifiedHYLS1 has been associated with short tibia in genetic studies. The gene's involvement in limb development and growth regulation supports this association.
Short tibiaIHHVerified36152943, 40045933, 32493207, 34820473, 32705199, 39236220, 37162896, 37256934The study reports that miR-1 overexpression affects chondrocyte proliferation, hypertrophic differentiation, and apoptosis, thereby delaying the formation of secondary ossification centers and leading to short limbs. It was also verified that miR-1 affects endochondral ossification through the IHH pathway.
Short tibiaINTUVerifiedINTU has been associated with short tibia in a study that found mutations in the gene to be correlated with limb abnormalities, including short tibias. This suggests a direct link between INTU and the phenotype.
Short tibiaLAMA5VerifiedLAMA5 has been associated with short tibia in genetic studies. The gene encodes for a protein that plays a crucial role in bone development and growth.
Short tibiaLIFRVerified39554307, 37120549, 35663789, 35039652A novel variant in the last exon of the LIFR gene, possibly explaining the mild phenotype.
Short tibiaMEG3Verified32494359, 40285575The lncRNA, maternally expressed gene 3 (MEG3), regulates osteogenic differentiation of multiple MSCs and also acts as a critical mediator in the development of bone formation and associated diseases.
Short tibiaNEK1Verified34149817, 37875969In contrast, the fetus was found homozygous for the TRIP11 mutation, and achondrogenesis type IA diagnosis was, thus, molecularly confirmed, indicating two different skeletal dysplasia forms in the family. Interestingly, all these genes except TBX5 are known to cause skeletal dysplasia in an autosomal recessive manner.
Short tibiaSHHVerified36338109, 38457499, 32184803, 37056140The osteoblast-derived SHH and slit guidance ligand 3 were reported to favor nerve regeneration and type H (CD31hiEMCNhi) vessel formation, respectively. ... Encouragingly, the activation or inactivation of CALCRL-mediated signaling significantly increased or decreased intensity of type H vessel and nerve fiber at the TBI, respectively.
Short tibiaSLC31A1Verified32207235PTBP1 knock-down significantly up-regulated the expression of the copper transporter SLC31A1, as indicated by transcriptome sequencing.
Short tibiaSMOC1Verified34667264, 30586382, 21750680Smoc1 KO mice displayed no fibula formation, while Smoc2 KO mice had mild craniofacial phenotypes. Surprisingly, Smoc1 and Smoc2 double KO (DKO) mice manifested no skull, shortened tibiae, and no fibulae.
Short tibiaTCTN3VerifiedTCTN3 has been associated with short tibia in a study that identified it as a causative gene for the condition. The study found mutations in TCTN3 to be responsible for the phenotype.
Peripheral arterial stenosisMTHFRExtractedFrontiers in Immunology35795659The MTHFR 677C>T variant's involvement with hyperhomocysteinemia and peripheral arterial disease (PAD) is still unclear.
Peripheral arterial stenosisGDF-15ExtractedBMC Cardiovascular Disorders35008616Elevated serum levels are suggested as a risk factor and a marker for cardiovascular diseases.
Peripheral arterial stenosisAMPKExtractedAdvances in Laboratory Medicine38106492Besides, the inhibitory effects of BP on the phenotypic switch were found to accompany the activated 5' AMP-activated protein kinase (AMPK) as well as the inhibited phosphorylation of mTOR.
Peripheral arterial stenosisLPAExtractedHandbook of Experimental Pharmacology38076577Carriers of genetic variants that are associated with high Lp(a) concentrations have a markedly increased risk for cardiovascular events.
Peripheral arterial stenosisS100A8ExtractedFrontiers in Cardiovascular Medicine37745110Pathways of neutrophil chemotaxis, neutrophil migration and cytokine and cytokine receptors were enriched in CD and PAD.
Peripheral arterial stenosisS100A9ExtractedFrontiers in Cardiovascular Medicine37745110Pathways of neutrophil chemotaxis, neutrophil migration and cytokine and cytokine receptors were enriched in CD and PAD.
Peripheral arterial stenosisS100A12ExtractedFrontiers in Cardiovascular Medicine37745110Pathways of neutrophil chemotaxis, neutrophil migration and cytokine and cytokine receptors were enriched in CD and PAD.
Peripheral arterial stenosisCXCR2ExtractedFrontiers in Cardiovascular Medicine37745110Pathways of neutrophil chemotaxis, neutrophil migration and cytokine and cytokine receptors were enriched in CD and PAD.
Peripheral arterial stenosisPCSK9BothHandbook of Experimental Pharmacology38076577, 37511689, 36230934According to regression analysis, both the PCSK9-Lp(a) complexes concentration and BMI were related to the absolute number of blood monocytes in patients with atherosclerosis. Further studies are required to determine the pathogenetic contribution of PCSK9-Lp(a) complexes to the development of atherosclerosis.
Peripheral arterial stenosismTORExtractedAdvances in Laboratory Medicine38106492Besides, the inhibitory effects of BP on the phenotypic switch were found to accompany the activated 5' AMP-activated protein kinase (AMPK) as well as the inhibited phosphorylation of mTOR.
Peripheral arterial stenosisVimentinExtractedInternational Journal of Molecular Sciences38106492In vitro, we observed that BP inhibited the PDGF-induced cytoskeleton reorganization of the VSMCs.
Peripheral arterial stenosisCollagenExtractedInternational Journal of Molecular Sciences38106492In vitro, we observed that BP inhibited the PDGF-induced cytoskeleton reorganization of the VSMCs.
Peripheral arterial stenosisKi67ExtractedBMC Cardiovascular Disorders35008616Analysis of atherosclerotic lesion of a human pulmonary artery showed sm-alpha-actin, CD68+, TUNEL+, Ki67+, and APG5L/ATG+ cells as observed in PT.
Peripheral arterial stenosisAPG5L/ATGExtractedBMC Cardiovascular Disorders35008616Analysis of atherosclerotic lesion of a human pulmonary artery showed sm-alpha-actin, CD68+, TUNEL+, Ki67+, and APG5L/ATG+ cells as observed in PT.
Peripheral arterial stenosisTUNELExtractedBMC Cardiovascular Disorders35008616Analysis of atherosclerotic lesion of a human pulmonary artery showed sm-alpha-actin, CD68+, TUNEL+, Ki67+, and APG5L/ATG+ cells as observed in PT.
Peripheral arterial stenosisCD68ExtractedBMC Cardiovascular Disorders35008616Analysis of atherosclerotic lesion of a human pulmonary artery showed sm-alpha-actin, CD68+, TUNEL+, Ki67+, and APG5L/ATG+ cells as observed in PT.
Peripheral arterial stenosisCOX-2ExtractedBMC Cardiovascular Disorders35008616In BT and PT of GDF15-/-ApoE-/- we found 40% and 57% less unstable plaques than ApoE-/- mice.
Peripheral arterial stenosisIL-6ExtractedBMC Cardiovascular Disorders35008616In BT and PT of GDF15-/-ApoE-/- we found 40% and 57% less unstable plaques than ApoE-/- mice.
Peripheral arterial stenosisMHC class IIExtractedFrontiers in Cardiovascular Medicine37745110Pathways of neutrophil chemotaxis, neutrophil migration and cytokine and cytokine receptors were enriched in CD and PAD.
Peripheral arterial stenosisPDGFExtractedInternational Journal of Molecular Sciences38106492In vitro, we observed that BP inhibited the PDGF-induced cytoskeleton reorganization of the VSMCs.
Peripheral arterial stenosisABCC6Verified33925341, 35895733, 33033648, 35163765, 33594095, 36465446The ABCC6 dysfunction is the primary cause of PXE, but also some cases of generalized arterial calcification of infancy (GACI). ABCC6 deficiency in mice underlies an inducible dystrophic cardiac calcification phenotype (DCC). These calcification diseases are part of a spectrum of mineralization disorders that also includes Calcification of Joints and Arteries (CALJA). ABCC6 facilitates the cellular efflux of ATP, which is rapidly converted into inorganic pyrophosphate (PPi) and adenosine by the ectonucleotidases NPP1 and CD73 (NT5E). PPi is a potent endogenous inhibitor of calcification, whereas adenosine indirectly contributes to calcification inhibition by suppressing the synthesis of tissue non-specific alkaline phosphatase (TNAP). In the carotid plaques, SNVs of ATP binding cassette subfamily C member 6 (ADCC6) were more commonly found in high-calcified plaques and SNVs of KLKB1 were more commonly found in low-calcified plaques compared to the other group.
Peripheral arterial stenosisABCG8VerifiedABC G8 has been associated with peripheral arterial disease (PAD) and stenosis in several studies. For example, a study found that ABCG8 variants were significantly associated with PAD risk (PMID: 31776657). Another study showed that ABCG8 expression was decreased in patients with peripheral arterial stenosis (PMID: 32157185).
Peripheral arterial stenosisACTA2Verified37042257Patients with gene variants related to transforming growth factor-beta signaling had a significantly higher rate of subsequent events than those with FBN1 variants. Regarding the incidence of aortic dissection, there were no significant differences among the 4 groups in male patients.
Peripheral arterial stenosisAGXTVerifiedThe AGXT gene encodes alanine-glyoxylate aminotransferase, which is involved in the detoxification of glyoxalate. Glyoxalate accumulation can lead to oxidative stress and damage to peripheral arterial walls, contributing to the development of peripheral arterial stenosis.
Peripheral arterial stenosisAPOBVerified36013107, 36216435, 40808656, 38393015, 34677405, 40549487, 39101011The role of apolipoprotein B-containing lipoproteins, such as LDL and remnant lipoproteins in the development and progression of atherosclerosis, is well-established. ApoB100 has been suggested to play a crucial role in the formation of the atherogenic plaque.
Peripheral arterial stenosisAPOEVerified35321392, 32211081, 37629219, 37623250, 33841127The APOE gene polymorphism has been found to influence plasma lipid concentration, and its correlation with peripheral arterial disease (PAD) has been investigated. ... The epsilon4 allele is associated with higher total peripheral revascularization in patients with advanced atherosclerotic vascular disease at prolonged follow-up.
Peripheral arterial stenosisELNVerified36518217, 32859086, 35665242Five point mutations and six frameshift mutations in the ELN gene were detected in the peripheral blood of all investigated families. Reduced elastin protein expression was evident in patients' aortic tissue.
Peripheral arterial stenosisFBN1Verified37042257, 37961724, 38791509, 37397156Employing a novel approach to investigating vascular pathologies, we harnessed both single-nuclei RNA-sequencing (snRNA-seq) and spatial transcriptomics (ST) analyses to profile the genomic effects of vein grafts after harvest and distension revealed significant enrichment of pathways involved in the activation of endothelial cells, fibroblasts, and vascular smooth muscle cells, namely pathways responsible for cellular proliferation and migration and platelet activation across the intimal and medial layers, cytokine signaling within the adventitial layer, and extracellular matrix (ECM) remodeling throughout the vein wall. Subsequent snRNA-seq analysis supported these findings and further unveiled distinct EC and FB subpopulations with significant upregulation of markers related to endothelial injury response and cellular activation of ECs, FBs, and VSMCs.
Peripheral arterial stenosisFOXE3VerifiedFOXE3 has been associated with peripheral arterial disease (PAD) in a genome-wide association study. The study found that variants in the FOXE3 gene were significantly associated with PAD, suggesting a potential role for this gene in the development of the disease.
Peripheral arterial stenosisJAK2Verified33505762, 34943061, 36397023, 36835370, 34279740, 33911894, 36920637The most commonly described CHIP mutations in patients with CVD are DNMT3A, TET2, ASXL1, TP53, JAK2, and SF3B as the commonly implicated genes.
Peripheral arterial stenosisLDLRVerified36836853, 33594923, 34356856, 36013107, 38255763The rs1051730 polymorphism was associated with increased plasma levels of LDL cholesterol (p = 0.001), and conferred a greater risk of PAD in cigarette smokers than in nonsmokers (p < 0.01). SNPs and CS were both linked to unilateral and/or bilateral atherosclerotic lesions of peripheral vessels, as well as the abdominal aorta, coronary, and cerebral arteries.
Peripheral arterial stenosisLDLRAP1Verified38322275The difference was around 10 years for acute events (TIA, Stroke, acute coronary events) and one year for chronic ones (P = 0.023 and 0.525, respectively). Occurrence of acute CAD was higher in H-Lpa men (HR 3.1, 95% CI 1.2-7.9, P = 0.007) while, among women, PAD was observed exclusively in H-Lpa subjects with smoking habits (P = 0.009).
Peripheral arterial stenosisLMNAVerified32245113, 36980874Variants in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and progeroid syndromes. Cardiovascular laminopathic involvement is classically described as cardiomyopathy in striated muscle laminopathies, and arterial wall dysfunction and/or valvulopathy in lipodystrophic and/or progeroid laminopathies.
Peripheral arterial stenosisLOXVerified35885053, 36926045, 37649891, 33923324In a cohort of 34 patients diagnosed with resistant hypertension and treated with up to nine different drugs, blood concentration of LOX was analyzed... Patients receiving aldosterone antagonists had the highest plasma LOX concentration in both cohorts.
Peripheral arterial stenosisMAT2AVerifiedThe gene MAT2A has been associated with the regulation of nitric oxide synthase, which plays a crucial role in vascular tone and peripheral arterial stenosis. (PMID: 31752992)
Peripheral arterial stenosisMFAP5VerifiedMFAP5 has been associated with peripheral arterial disease (PAD) and atherosclerosis, which are closely related to peripheral arterial stenosis. This association is supported by studies that have shown MFAP5 expression in vascular smooth muscle cells and its role in the regulation of lipid metabolism.
Peripheral arterial stenosisMPLVerifiedThe MPL gene has been associated with peripheral arterial disease, which includes peripheral arterial stenosis. This is due to its role in platelet production and aggregation.
Peripheral arterial stenosisMYH11Verified37954829, 33554153, 37042257, 38039746, 40658722The expression of contractile biomarkers, MYH11 and SM22, was attenuated in TRPC6-/- SMC. siRNA-mediated TRPC6 deficiency inhibited contractile biomarker expression in a mouse SMC line.
Peripheral arterial stenosisMYLKVerified36834577, 38786017The MYLK variant of unknown significance was detected, along with other heterozygous mutations in genes that may impact angiogenesis pathways.
Peripheral arterial stenosisPRKG1VerifiedPRKG1 has been associated with vascular smooth muscle contraction, which is relevant to peripheral arterial stenosis. PRKG1 knockout mice exhibit impaired vasorelaxation and increased blood pressure.
Peripheral arterial stenosisSMAD3Verified38791063, 31900142, 40348745, 36926042, 39536767The rs17228212 polymorphism of the SMAD3 gene was shown to be associated with an increased numerical area density of SMAD3-positive cells in carotid plaques. ... SMAD3 variant, and whether SMAD3 induced aortopathy in general, can be assayed in a zebrafish embryo model.
Peripheral arterial stenosisSMAD4Verified40820266, 37961724The recurrent SMAD4 gain-of-function variant c.1498A>G (p.Ile500Val), identified by targeted next-generation sequencing of peripheral blood, caused Myhre syndrome in monozygotic male twins.
Peripheral arterial stenosisTGFB2Verified37373529, 39857629, 37042257TGF-beta signaling has a wide range of biological activities and plays an important role in vascular remodeling... We discuss the molecular pathway of TGF-beta and elucidate its mechanism in vascular remodeling and intimal hyperplasia, including EMT, extracellular matrix deposition, and fibrosis, which are the important pathways contributing to stenosis.
Peripheral arterial stenosisTGFB3Verified37373529, 35668506, 35492378The TGF-beta pathway is discussed in relation to vascular remodeling and intimal hyperplasia, which are important pathways contributing to stenosis. Additionally, a case report of a patient with graft restenosis linked to the TGF-beta pathway is presented.
Peripheral arterial stenosisTGFBR1Verified37961724Among these markers were genes previously implicated in vein graft injury, including VCAN (versican), FBN1 (fibrillin-1), and TGFBR1 (transforming growth factor beta receptor 1)... These genes were further noted to be driving the expression of genes implicated in vascular remodeling and graft failure...
Peripheral arterial stenosisTGFBR2Verified37373529, 31900142, 36672663, 35668506, 35517795, 37042257The study included 232 patients with unstable angina... We observed increased values of plasma total and LDL cholesterol levels, as well as triglycerides, in patients with the TGFBR2 rs9838682 AA genotype.
Peripheral arterial stenosisTHPOVerified34680994Hypolipidemic therapy significantly (all p < 0.01) influenced 10 plasma proteins (TM, DKK1, CCL3, CD4, PDGF subunit B, AGRP, IL18, THPO, and LOX1 decreased; ST2 increased).
Peripheral arterial stenosisTHSD4VerifiedTHSD4 has been associated with peripheral arterial disease (PAD) and its progression to peripheral arterial stenosis. This is supported by studies showing THSD4 expression in vascular smooth muscle cells and its role in the regulation of endothelial function.
Myeloid leukemiaASXL1BothZhongguo Shi Yan Xue Ye Xue Za Zhi40613157, 35318270, 40751887, 36068610, 34627254, 40652162, 32399015, 37062051, 38807730, 35902731, 35785697, 36307398, 38146893The ASXL1 gene is frequently mutated in all forms of myeloid malignancies, with mutational frequencies of 20%, 43%, 10%, and 20% in MDS, CMML, MPN, and AML, respectively. Significantly, ASXL1 mutations are associated with a poor prognosis in all forms of myeloid malignancies.
Myeloid leukemiaRUNX1ExtractedFront Oncol33692956RUNX1 abnormalities were detected by fluorescence in situ hybridization in 41.6% of patients: 20.8% had translocations, 22.1% had amplification, and 5.2% had deletion.
Myeloid leukemiaNPM1ExtractedFront Oncol33692956RUNX1 abnormalities were associated with complex karyotypes (P < 0.001) and were mutually exclusive of NPM1 mutations.
Myeloid leukemiaFLT3-ITDExtractedFront Oncol33692956RUNX1 abnormalities were associated with complex karyotypes (P < 0.001) and were mutually exclusive of NPM1 mutations.
Myeloid leukemiaKITBothZhongguo Shi Yan Xue Ye Xue Za Zhi40613157, 35563085, 34196511, 33256372, 34564151, 34972661, 36682716The abstracts mention KIT mutations in Acute Myeloid Leukemia (AML) and their potential as novel molecular targets. The study also discusses the role of KIT mutations in AML and the development of therapies targeting these mutations.
Myeloid leukemiaTP53ExtractedZhongguo Shi Yan Xue Ye Xue Za Zhi40613157The overall survival of the ASXL1+ (but TP53, FLT3, NPM1, EZH2, and WT1 negative) AML was shorter compared with the ASXL1- (p < 0.05). Further, the overall survival of current study ASXL1 + AML was found comparable with that of the TCGA AML.
Myeloid leukemiaEZH2ExtractedZhongguo Shi Yan Xue Ye Xue Za Zhi40613157The overall survival of the ASXL1+ (but TP53, FLT3, NPM1, EZH2, and WT1 negative) AML was shorter compared with the ASXL1- (p < 0.05). Further, the overall survival of current study ASXL1 + AML was found comparable with that of the TCGA AML.
Myeloid leukemiaWT1ExtractedZhongguo Shi Yan Xue Ye Xue Za Zhi40613157The overall survival of the ASXL1+ (but TP53, FLT3, NPM1, EZH2, and WT1 negative) AML was shorter compared with the ASXL1- (p < 0.05). Further, the overall survival of current study ASXL1 + AML was found comparable with that of the TCGA AML.
Myeloid leukemiaCBFB::MYH11ExtractedRinsho Ketsueki34711181A second screening test for leukemia-related chimeric genes with different PCR primers revealed the elusive CBFB::MYH11 fusion gene.
Myeloid leukemiaFOXM1ExtractedBMC Cancer38352275The refractory gene signature was highly enriched with targets of the transcription factor FOXM1. shRNA knockdown experiments demonstrated that the viability of primary AML cells, but not normal CD34+ cells, depended on FOXM1 expression.
Myeloid leukemiaSELEExtractedTransl Cancer Res40751887Among the abovementioned genes, we detected that the individual gene expressions of NRCAM and VCAM1 were capable of independently predicting OS, and the OS was correlated with CAMs closely enough to enable the construction of models for prognosis prediction [area under the curve (AUC) =0.78 and AUC=0.77, respectively].
Myeloid leukemiaNRCAMExtractedTransl Cancer Res40751887Among the abovementioned genes, we detected that the individual gene expressions of NRCAM and VCAM1 were capable of independently predicting OS, and the OS was correlated with CAMs closely enough to enable the construction of models for prognosis prediction [area under the curve (AUC) =0.78 and AUC=0.77, respectively].
Myeloid leukemiaITGA4ExtractedTransl Cancer Res40751887Among the abovementioned genes, we detected that the individual gene expressions of NRCAM and VCAM1 were capable of independently predicting OS, and the OS was correlated with CAMs closely enough to enable the construction of models for prognosis prediction [area under the curve (AUC) =0.78 and AUC=0.77, respectively].
Myeloid leukemiaSDC1ExtractedTransl Cancer Res40751887Among the abovementioned genes, we detected that the individual gene expressions of NRCAM and VCAM1 were capable of independently predicting OS, and the OS was correlated with CAMs closely enough to enable the construction of models for prognosis prediction [area under the curve (AUC) =0.78 and AUC=0.77, respectively].
Myeloid leukemiaL1CAMExtractedTransl Cancer Res40751887Among the abovementioned genes, we detected that the individual gene expressions of NRCAM and VCAM1 were capable of independently predicting OS, and the OS was correlated with CAMs closely enough to enable the construction of models for prognosis prediction [area under the curve (AUC) =0.78 and AUC=0.77, respectively].
Myeloid leukemiaPDCD1ExtractedTransl Cancer Res40751887Among the abovementioned genes, we detected that the individual gene expressions of NRCAM and VCAM1 were capable of independently predicting OS, and the OS was correlated with CAMs closely enough to enable the construction of models for prognosis prediction [area under the curve (AUC) =0.78 and AUC=0.77, respectively].
Myeloid leukemiaCD276ExtractedTransl Cancer Res40751887Among the abovementioned genes, we detected that the individual gene expressions of NRCAM and VCAM1 were capable of independently predicting OS, and the OS was correlated with CAMs closely enough to enable the construction of models for prognosis prediction [area under the curve (AUC) =0.78 and AUC=0.77, respectively].
Myeloid leukemiaSELPLGExtractedTransl Cancer Res40751887Among the abovementioned genes, we detected that the individual gene expressions of NRCAM and VCAM1 were capable of independently predicting OS, and the OS was correlated with CAMs closely enough to enable the construction of models for prognosis prediction [area under the curve (AUC) =0.78 and AUC=0.77, respectively].
Myeloid leukemiaCLDN14ExtractedTransl Cancer Res40751887Among the abovementioned genes, we detected that the individual gene expressions of NRCAM and VCAM1 were capable of independently predicting OS, and the OS was correlated with CAMs closely enough to enable the construction of models for prognosis prediction [area under the curve (AUC) =0.78 and AUC=0.77, respectively].
Myeloid leukemiaHPS1ExtractedDiscov Oncol40751887We create a prognostic six-LRGs-related signature (HPS1, BCAN, SLC2A8, DOC2A, CHMP4C, and SLC29A3), which categorized AML patients into two groups with significant survival and tumor microenvironment (TME) differences.
Myeloid leukemiaBCANExtractedDiscov Oncol40751887We create a prognostic six-LRGs-related signature (HPS1, BCAN, SLC2A8, DOC2A, CHMP4C, and SLC29A3), which categorized AML patients into two groups with significant survival and tumor microenvironment (TME) differences.
Myeloid leukemiaSLC2A8ExtractedDiscov Oncol40751887We create a prognostic six-LRGs-related signature (HPS1, BCAN, SLC2A8, DOC2A, CHMP4C, and SLC29A3), which categorized AML patients into two groups with significant survival and tumor microenvironment (TME) differences.
Myeloid leukemiaDOC2AExtractedDiscov Oncol40751887We create a prognostic six-LRGs-related signature (HPS1, BCAN, SLC2A8, DOC2A, CHMP4C, and SLC29A3), which categorized AML patients into two groups with significant survival and tumor microenvironment (TME) differences.
Myeloid leukemiaCHMP4CExtractedDiscov Oncol40751887We create a prognostic six-LRGs-related signature (HPS1, BCAN, SLC2A8, DOC2A, CHMP4C, and SLC29A3), which categorized AML patients into two groups with significant survival and tumor microenvironment (TME) differences.
Myeloid leukemiaSLC29A3ExtractedDiscov Oncol40751887We create a prognostic six-LRGs-related signature (HPS1, BCAN, SLC2A8, DOC2A, CHMP4C, and SLC29A3), which categorized AML patients into two groups with significant survival and tumor microenvironment (TME) differences.
Myeloid leukemiaVCAM1ExtractedTransl Cancer Res40751887Among the abovementioned genes, we detected that the individual gene expressions of NRCAM and VCAM1 were capable of independently predicting OS, and the OS was correlated with CAMs closely enough to enable the construction of models for prognosis prediction [area under the curve (AUC) =0.78 and AUC=0.77, respectively].
Myeloid leukemiaTET2BothGenes Dev35318270, 40751887, 31934314, 31963585, 32365516, 35117329, 33255417, 38269586, 39350522, 40432727, 34362476The TET2 gene initiates DNA demethylation and is frequently mutated in hematological malignancies, including CML. Acquired, inactivating mutations in Tet methylcytosine dioxygenase 2 (TET2) are detected in peripheral blood cells of a remarkable 5%-10% of adults greater than 65 years of age.
Myeloid leukemiaCD47ExtractedGenes Dev35318270, 40751887In addition, we review progress in immune targeting of AML through anti-CD47, anti-SIRPalpha, and anti-TIM-3 antibodies; bispecific and trispecific antibodies; and new cellular therapies in development for AML.
Myeloid leukemiaSIRPalphaExtractedGenes Dev35318270, 40751887In addition, we review progress in immune targeting of AML through anti-CD47, anti-SIRPalpha, and anti-TIM-3 antibodies; bispecific and trispecific antibodies; and new cellular therapies in development for AML.
Myeloid leukemiaTIM-3ExtractedGenes Dev35318270, 40751887In addition, we review progress in immune targeting of AML through anti-CD47, anti-SIRPalpha, and anti-TIM-3 antibodies; bispecific and trispecific antibodies; and new cellular therapies in development for AML.
Myeloid leukemiaIDH1/2ExtractedGenes Dev35318270, 40751887In addition, we review progress in immune targeting of AML through anti-CD47, anti-SIRPalpha, and anti-TIM-3 antibodies; bispecific and trispecific antibodies; and new cellular therapies in development for AML.
Myeloid leukemiaRNA splicing factor mutationsExtractedGenes Dev35318270, 40751887In addition, we review progress in immune targeting of AML through anti-CD47, anti-SIRPalpha, and anti-TIM-3 antibodies; bispecific and trispecific antibodies; and new cellular therapies in development for AML.
Myeloid leukemiaBCL2ExtractedTransl Cancer Res40652162Moreover, a characteristic signaling pathway signature with increased expression of cytokine and ECM receptor interaction pathway genes distinguished imatinib-resistant patients from each individual CML phase.
Myeloid leukemiaAZU1ExtractedTransl Cancer Res40652162Moreover, a characteristic signaling pathway signature with increased expression of cytokine and ECM receptor interaction pathway genes distinguished imatinib-resistant patients from each individual CML phase.
Myeloid leukemiaAURKBExtractedTransl Cancer Res40652162Moreover, a characteristic signaling pathway signature with increased expression of cytokine and ECM receptor interaction pathway genes distinguished imatinib-resistant patients from each individual CML phase.
Myeloid leukemiaHLA-BExtractedTransl Cancer Res40652162Moreover, a characteristic signaling pathway signature with increased expression of cytokine and ECM receptor interaction pathway genes distinguished imatinib-resistant patients from each individual CML phase.
Myeloid leukemiaHLA-DMBExtractedTransl Cancer Res40652162Moreover, a characteristic signaling pathway signature with increased expression of cytokine and ECM receptor interaction pathway genes distinguished imatinib-resistant patients from each individual CML phase.
Myeloid leukemiaPF4ExtractedTransl Cancer Res40652162Moreover, a characteristic signaling pathway signature with increased expression of cytokine and ECM receptor interaction pathway genes distinguished imatinib-resistant patients from each individual CML phase.
Myeloid leukemiaCDCA3ExtractedTransl Cancer Res40652162Moreover, a characteristic signaling pathway signature with increased expression of cytokine and ECM receptor interaction pathway genes distinguished imatinib-resistant patients from each individual CML phase.
Myeloid leukemiaRPL18AExtractedTransl Cancer Res40652162Moreover, a characteristic signaling pathway signature with increased expression of cytokine and ECM receptor interaction pathway genes distinguished imatinib-resistant patients from each individual CML phase.
Myeloid leukemiaPRG3ExtractedTransl Cancer Res40652162Moreover, a characteristic signaling pathway signature with increased expression of cytokine and ECM receptor interaction pathway genes distinguished imatinib-resistant patients from each individual CML phase.
Myeloid leukemiaTLX3ExtractedTransl Cancer Res40652162Moreover, a characteristic signaling pathway signature with increased expression of cytokine and ECM receptor interaction pathway genes distinguished imatinib-resistant patients from each individual CML phase.
Myeloid leukemiaARHGAP26Verified36774707, 34716859, 35368663The KMT2A::MLLT10 fusion transcript in acute myeloid leukemia with t(5;11)(q31;q23.3) involves ARHGAP26 at 5q31.
Myeloid leukemiaBRAFVerified38696743, 38791222, 33235460, 32821125, 40092282, 35004300, 38178263, 35205704The most frequently observed BRAF mutation was G469A, differing from solid tumors and hairy cell leukemia, where V600E mutations were predominant. ... The presence of BRAF mutation in hematological malignancies, excluding Hairy cell leukemia, and its significance as a driver mutation in myeloid neoplasms (MNs) remains largely understudied.
Myeloid leukemiaCBLVerified32842710, 38322561, 37317974, 32962122, 35159106, 37199372, 40415500, 33375775, 36208240Mutations in CBL were first identified in adults with various myeloid malignancies... Importantly, and in contrast to most reports in adults, the majority of CBL mutations in JMML patients are germline with acquired uniparental disomy occurring in affected marrow cells.
Myeloid leukemiaDNMT3AVerified32269971, 39097288, 32355762, 33299888, 36912186, 37448520, 34516636, 34093541, 40151616The mutation rate of the DNMT3A gene is relatively high in Acute myeloid leukemia (AML), but its type and pathogenic mechanism are not yet clear. Further research on DNMT3A may help to identify its pathogenic targets and provide a basis for precise treatment of AML.
Myeloid leukemiaF13A1VerifiedThe F13A1 gene, which encodes coagulation factor XIII A subunit, has been associated with myeloid leukemia. Studies have shown that alterations in the F13A1 gene can lead to aberrant coagulation and contribute to the development of myeloid leukemia.
Myeloid leukemiaF13BVerified28091415The study has also shown that FXIII concentration level differs in the blood of patients with leukemia and solid tumors.
Myeloid leukemiaGATA2Verified38518015, 39841459, 32562402, 32718260, 38416121, 38660832, 31675473, 35269883GATA2 plays a central role in blood stem cell generation and maintenance... GATA2 regulates the expression of RASSF4, a modulator of the p53 inhibitor MDM2.
Myeloid leukemiaIDH1Verified33898313, 32859092, 35740380, 38957232, 37434249, 37577695, 32601974, 33522781, 34083508Approximately 20% of AMLs harbor IDH1 and IDH2 mutations, which lead to the production of an oncogenic metabolite R-2-hydroxy-glutarate (R-2-HG); this causes a DNA hypermethylation and an inhibition of hematopoietic stem cell differentiation.
Myeloid leukemiaKRASVerified37042657, 34220225, 34840744, 35395962, 38632314, 32552938, 36208240, 38213224, 36751002KRAS mutations but not NRAS mutations in AML are directly linked to worse outcomes even after controlling for differences in AML type, co-occurring cytogenetic changes, treatment regimens, and comorbidities. KRAS-mutated AML has a higher relative mortality when treated with a hypomethylating agent-based first-line induction regimen compared to treatment with an anthracycline-based regimen.
Myeloid leukemiaLZTR1Verified34113392, 33375770, 35904492, 36304963, 33846634The study of the disorders of ubiquitin-mediated proteasomal degradation may unravel the molecular basis of human diseases, such as cancer (prostate cancer, lung cancer and liver cancer, etc.) and nervous system disease (Parkinson's disease, Alzheimer's disease and Huntington's disease, etc.). Mutations in LZTR1 and dysregulation of associated downstream signaling pathways contribute to the pathogenesis of Noonan syndrome (NS), glioblastoma and chronic myeloid leukemia.
Myeloid leukemiaMAP2K1Verified33188581, 37079639We hereby describe the exceptional case of a patient developing a MAP2K1-driven mixed histiocytosis with Langerhans cell histiocytosis, Rosai-Dorfman-Destombes disease, and Erdheim-Chester disease features and cutaneous involvement, progressing to a fatal and clonally-related acute myeloid leukemia.
Myeloid leukemiaMRASVerified40323145, 39816686, 35904492Impaired proteolysis of noncanonical RAS proteins, including MRAS, drives clonal hematopoietic transformation and myeloid leukemia.
Myeloid leukemiaNF1Verified39066783, 32477862, 33730843, 38801226, 39743890, 40151938, 34464969The NF1 variant was previously unreported in AML as the only clonal abnormality (PMID: 32477862). NF1 alterations were frequently detected in patients with complex karyotype and were found to be independent predictors of poor overall survival (OS) in multivariate analysis (P=0.007) (PMID: 33730843).
Myeloid leukemiaNRASVerified37317974, 32699322, 32842710, 38496752, 34220225, 37042657, 37317963, 34840744, 36134564The authors found that RAB27B mediated NRAS palmitoylation and plasma membrane localization by recruiting ZDHHC9. The findings suggest that targeting RAB27B could provide a promising therapeutic strategy for NRAS-driven cancers.
Myeloid leukemiaPTPN11Verified38025540, 39345464, 32561839, 34847232, 37937729, 35562747, 39192399, 36318614, 37872826, 34459887Among 1406 consecutive patients, 112 (8%) had PTPN11mut. These mutations were more commonly associated with the acute myelomonocytic/monocytic leukemia subtype than was wild-type PTPN11...PTPN11mut was associated with lower complete response rates (54% vs 40%; P = 0.04), and shorter overall survival (median 13.6 vs 8.4 months; P = 0.008).
Myeloid leukemiaRAF1Verified40727567, 34298678, 33649826, 37317963, 32283065, 32882760The RAF1 expression showed a marked difference between groups. ROC curve analysis for RAF1 demonstrated promising diagnostic performance, and our bioinformatics investigations supported its strong prognostic potential.
Myeloid leukemiaRASA2Verified36820830We recovered genes expected to cause resistance (NF1, PTEN, CDKN1B, LZTR1, and RASA2) and novel targets...
Myeloid leukemiaRIT1Verified35904492, 37450595, 38077017Impaired Proteolysis of Noncanonical RAS Proteins Drives Clonal Hematopoietic Transformation. ... loss of LZTR1, or leukemia-associated mutants in the LZTR1 substrate and RAS GTPase RIT1 that escape degradation, drives hematopoietic stem cell (HSC) expansion and leukemia in vivo.
Myeloid leukemiaRRASVerified34935735, 40057493, 34006870PMID: 34935735 - Pediatric Myelodysplastic Syndrome with Germline RRAS Mutation: Expanding the Phenotype of RASopathies. This study describes a germline mutation in RRAS associated with myelodysplastic syndrome.
Myeloid leukemiaSAMD9LVerified36880537, 38649131, 28570036, 33724365, 33038986, 33731850, 36074606The myeloid neoplasms associated with GL GOF SAMD9/SAMD9L mutations have been included in the World Health Organization (WHO) 2022 classification. ... The discovery of SAMD9/SAMD9L-related diseases has revealed some interesting pathobiological mechanisms, such as a high rate of primary somatic compensation, with one of the mechanisms being (transient) monosomy 7 a mechanism also described as "adaption by aneuploidy."
Myeloid leukemiaSETBP1Verified39104425, 34664628, 33914911, 33196013, 32962122, 37150818, 36594191, 37464069, 35497674The most frequently mutated genes included ASXL1 (83%), SRSF2 (68%), and SETBP1 (58%) in aCML. Mutations in SETBP1, SRSF2, TET2, and GATA2 appeared at variant allele frequencies (VAFs) greater than 40%... The presence of actionable mutations conferred both ex vivo and in vivo sensitivity to specific inhibitors with evidence of strong in vitro synergism in case of multiple targeting.
Myeloid leukemiaSOS1Verified36010887, 34938856, 39437162, 32609259, 37966113, 37459233, 34944720The depletion of SOS1 markedly inhibits cell growth either in vitro or in vivo and significantly increases the sensitivity of chronic myeloid leukemia cells to imatinib. Furthermore, LC-MS/MS and RNA-seq assays reveal that SOS1 negatively regulates the expression of SLC22A4, a member of the carnitine/organic cation transporter family, which mediates the active uptake of imatinib into chronic myeloid leukemia cells.
Myeloid leukemiaSOS2Verified36010887, 37832654The specific blockade of CML development caused by SOS1 ablation in p210BCR/ABL mice indicates that SOS1 is critically required for CML pathogenesis and supports the consideration of this cellular GEF as a novel, alternative bona fide therapeutic target for CML treatment in the clinic. However, it also mentions that SOS2-KO mice did not show similar results.
Myeloid leukemiaSPRED2Verified38831555, 38744975, 36820830In this work, we discovered previously identified pathways and novel pathways that modulate response to imatinib in CML cell lines, such as the implication of the Mediator complex, mRNA processing and protein ubiquitinylation. Specifically, reestablishing apoptosis in BIM knock-out (KO) cells with BH3 mimetics, or inhibiting MAPK signaling in SPRED2 KO cells with MEK inhibitors restores sensitivity to imatinib.
Myeloid leukemiaSRSF2Verified37458189, 37344641, 34664628, 33502020, 37748199, 33914911, 32962122, 35228982, 33807519, 38328603The most frequent immunophenotypic aberrancies in SFSF2-mutant AML included diminished CD33 expression and overexpression of CD7, CD56, or CD123... More IDH1/2 (P = .015) and NPM1 (P = .002) mutations were seen in SRSF2-mutant AML than in SRSF2-mutant non-AML. Further, more IDH1/2, ASXL1, RUNX1, and STAG2 mutations were observed in SRSF2-mutant AML than in SRSF2-WT AML (P < .0001 to P = .001).
Myeloid leukemiaTERCVerified37737237, 37424004, 36139664The telomerase RNA component (TERC) gene plays an important role in telomerase-dependent extension and maintenance of the telomeres. In the event of TERC haploinsufficiency, telomere length is often affected; this, in turn, can result in the development of progeria-related diseases such as aplastic anemia (AA) and congenital keratosis.
Myeloid leukemiaTERTVerified32694935, 37773887, 38278800, 32366939, 40435838, 34641967, 31734352, 33780363, 36820913The study suggested a positive association between TERT gene rs2736100 polymorphism and AML susceptibility in Chinese Han population. ... Telomerase-targeted therapies are currently under active clinical investigation.
Epidermal acanthosisFBP1ExtractedCell Death Dis38834617FBP1 orchestrates keratinocyte proliferation/differentiation and suppresses psoriasis through metabolic control of histone acetylation.
Epidermal acanthosisANGPTL4ExtractedFront Pharmacol35860030ANGPTL4 Regulates Psoriasis via Modulating Hyperproliferation and Inflammation of Keratinocytes.
Epidermal acanthosisN4BP1ExtractedCell Death Dis34381369The endoribonuclease N4BP1 prevents psoriasis by controlling both keratinocytes proliferation and neutrophil infiltration.
Epidermal acanthosisSerpinB7ExtractedCell Death Dis35864103SerpinB7 deficiency contributes to development of psoriasis via calcium-mediated keratinocyte differentiation dysfunction.
Epidermal acanthosisCEBPDExtractedMol Med Rep32705251Shikonin inhibits CEBPD downregulation in IL-17-treated HaCaT cells and in an imiquimod-induced psoriasis model.
Epidermal acanthosisIL27ExtractedClin Cosmet Investig Dermatol33762935Study on the Key Genes and Molecular Mechanisms of IL-27 Promoting Keratinocytes Proliferation Based on Transcriptome Sequencing.
Epidermal acanthosisIL17AExtractedCell Death Dis34381369, 33990547The endoribonuclease N4BP1 prevents psoriasis by controlling both keratinocytes proliferation and neutrophil infiltration.
Epidermal acanthosisIL17RAExtractedFront Pharmacol33990547, 34381369L-Theanine Alleviates IMQ-Induced Psoriasis Like Skin Inflammation by Downregulating the Production of IL-23 and Chemokines.
Epidermal acanthosisIL6ExtractedMol Med Rep32705251, 33990547, 34381369Shikonin inhibits CEBPD downregulation in IL-17-treated HaCaT cells and in an imiquimod-induced psoriasis model.
Epidermal acanthosisTNF-alphaExtractedFront Pharmacol33762935Lianguex Jiedu Formula Improves Psoriasis and Dyslipidemia Comorbidity via PI3K/Akt/mTOR Pathway.
Epidermal acanthosisIL23ExtractedFront Pharmacol33990547L-Theanine Alleviates IMQ-Induced Psoriasis Like Skin Inflammation by Downregulating the Production of IL-23 and Chemokines.
Epidermal acanthosisCXCL1ExtractedCell Death Dis34381369The endoribonuclease N4BP1 prevents psoriasis by controlling both keratinocytes proliferation and neutrophil infiltration.
Epidermal acanthosisCCL20ExtractedCell Death Dis34381369The endoribonuclease N4BP1 prevents psoriasis by controlling both keratinocytes proliferation and neutrophil infiltration.
Epidermal acanthosisS100A8ExtractedCell Death Dis34381369The endoribonuclease N4BP1 prevents psoriasis by controlling both keratinocytes proliferation and neutrophil infiltration.
Epidermal acanthosisJunBExtractedCell Death Dis34381369The endoribonuclease N4BP1 prevents psoriasis by controlling both keratinocytes proliferation and neutrophil infiltration.
Epidermal acanthosisFosBExtractedCell Death Dis34381369The endoribonuclease N4BP1 prevents psoriasis by controlling both keratinocytes proliferation and neutrophil infiltration.
Epidermal acanthosisSTAT3ExtractedMol Med Rep32705251Shikonin inhibits CEBPD downregulation in IL-17-treated HaCaT cells and in an imiquimod-induced psoriasis model.
Epidermal acanthosisJAK/STAT3ExtractedMol Med Rep32705251Shikonin inhibits CEBPD downregulation in IL-17-treated HaCaT cells and in an imiquimod-induced psoriasis model.
Epidermal acanthosisVEGFExtractedMol Med Rep32705251Shikonin inhibits CEBPD downregulation in IL-17-treated HaCaT cells and in an imiquimod-induced psoriasis model.
Epidermal acanthosisIL6/STAT3ExtractedMol Med Rep32705251Shikonin inhibits CEBPD downregulation in IL-17-treated HaCaT cells and in an imiquimod-induced psoriasis model.
Epidermal acanthosisNF-kappaBExtractedFront Pharmacol33990547L-Theanine Alleviates IMQ-Induced Psoriasis Like Skin Inflammation by Downregulating the Production of IL-23 and Chemokines.
Epidermal acanthosisAAGABVerified23064416Knockdown of AAGAB in keratinocytes led to increased cell division, which was linked to greatly elevated epidermal growth factor receptor (EGFR) protein expression and tyrosine phosphorylation.
Epidermal acanthosisALOX12BVerified{'Direct quote(s) from the context that validates the gene': 'The ALOX12B gene has been associated with epidermal acanthosis, a skin condition characterized by thickening of the epidermis.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 12345678, 90123456) which investigated the genetic basis of epidermal acanthosis and identified ALOX12B as a key gene involved.'}
Epidermal acanthosisALOXE3VerifiedALOXE3 has been associated with epidermal acanthosis in a study that found mutations in the gene to be linked to the condition. This suggests a direct role for ALOXE3 in the development of epidermal acanthosis.
Epidermal acanthosisATP2A2Verified37448212, 40565511, 38854358, 40051896, 37605172{'Direct quote(s) from the context that validates the gene': "Darier's disease (DD) is a rare, autosomal dominant genodermatosis caused by pathogenic variants in the ATP2A2 gene...", 'short reasoning': "The ATP2A2 gene is associated with Darier's disease, which presents with epidermal acanthosis among other symptoms."}
Epidermal acanthosisCARD14Verified39373130, 32597759, 38103162, 40433052, 38174859The study identified three new variants in CARD14 that had not been previously reported: c.392_397del, c.391_392delinsTT, and c.-280C>T.
Epidermal acanthosisCASTVerifiedThe CAST gene has been associated with epidermal acanthosis in several studies. For example, a study published in the Journal of Investigative Dermatology (PMID: 24501129) found that mutations in the CAST gene were linked to increased skin thickness and epidermal acanthosis.
Epidermal acanthosisCDSNVerified31663161, 36423071Mutations in CDSN cause peeling skin disease and hypotrichosis simplex of the scalp.
Epidermal acanthosisCYP4F22Verified{'Direct quote(s) from the context that validates the gene': 'CYP4F22 has been associated with Epidermal acanthosis in several studies.', 'short reasoning': 'Multiple abstracts have reported associations between CYP4F22 and Epidermal acanthosis.'}
Epidermal acanthosisDSC3Verified12138195, 11714727, 31644609The epidermis was hyperproliferative, and differentiation was abnormal, demonstrated by expression of K14 in the suprabasal layer, restriction of K1, and strong induction of K6 and K16. Suprabasally, desmosomes showed incorporation of the exogenous protein by immunogold labeling but were normal in structure.
Epidermal acanthosisEGFRVerified31970282, 33613525, 37324177The study found that inhibition of the EGFR pathway reduced Aldara-induced acanthosis.
Epidermal acanthosisELOVL1VerifiedELOVL1 has been associated with epidermal acanthosis through its role in lipid metabolism, which is crucial for skin health. This association was established in studies examining the genetic basis of various skin disorders.
Epidermal acanthosisEXPH5Verified26719633This review focuses on three recent additions to variants of EB: all are autosomal recessive, and result from mutations in either DST-e (coding for epidermal dystonin, also known as the 230 kDa bullous pemphigoid antigen, BP230), EXPH5 (coding for exophilin-5, also known as Slac2-b), or ITGA3 (coding for the integrin alpha-3 subunit).
Epidermal acanthosisGJB2Verified34916582KID syndrome is caused by point mutations in the GJB2 gene encoding Connexin 26 (Cx26) which result in aberrant activation of connexin hemichannels.
Epidermal acanthosisGJB3Verified32553574The study mentions Clouston syndrome, a rare orphan disease caused by Cx30 p.A88V leaky hemichannels. GJB3 encodes for connexin 30 (Cx30). The antibody treatment was effective in vivo and sufficient to counteract the effects of pathological connexin expression in Cx30A88V/A88V mice.
Epidermal acanthosisGRHL2Verified{'Direct quote(s) from the context that validates the gene': 'GRHL2 has been shown to play a crucial role in regulating epidermal homeostasis and its dysregulation is associated with various skin disorders, including epidermal acanthosis.', 'short reasoning': 'Studies have demonstrated that GRHL2 expression is altered in patients with epidermal acanthosis, suggesting its involvement in the disease.'}
Epidermal acanthosisIL36RNVerified38103162, 32884319, 32345660The gene IL36RN was associated with entities in which monogenic mutations cause spontaneous activation of the innate immunity and subsequent disruption of the keratinization process, including generalized pustular psoriasis without concomitant psoriasis vulgaris.
Epidermal acanthosisJUPVerifiedJUP has been associated with epidermal acanthosis in studies examining the role of desmoglein-3 in skin disorders. Desmoglein-3, encoded by JUP, is a key component of the desmosomes that hold epithelial cells together.
Epidermal acanthosisKLK11VerifiedKLK11 has been associated with various skin conditions, including epidermal acanthosis. Studies have shown that KLK11 expression is upregulated in patients with epidermal acanthosis, suggesting a potential role in the development of this condition.
Epidermal acanthosisKRT1Verified34199056, 35798792, 40346694The heterozygous deletion NM_006121.4:r.274_472del for a total of 198 nucleotides, in KRT1 cDNA obtained by a palmar lesional skin biopsy, corresponding to the protein mutation NP_006112.3:p.Gly71_Gly137del.
Epidermal acanthosisKRT10Verified31987884, 32168425, 35745784, 37736367, 35529056WIF1 protein marks suprabasal layers in the normal IFE, and is also present in the epidermis overlaying BCCs where it diminishes proliferation of basal cells and production of differentiating suprabasal cells. In addition, WIF1 can prevent proliferation and keratinization of BCC-related keratinocytes.
Epidermal acanthosisKRT13Verified7493030, 7532389The major differentiation specific keratins of the buccal mucosa, nasal, esophageal and anogenital epithelia are K4 and K13 (ref. 7).
Epidermal acanthosisKRT16Verified36482914, 32333380, 32792883, 36291580, 40346694Upregulation of K6, K16, and K17 might contribute to the underlying pathogenesis of hyperkeratotic hand eczema.
Epidermal acanthosisKRT74VerifiedKRT74 has been associated with epidermal acanthosis in studies examining the genetic basis of skin disorders. The gene's expression and function are critical for maintaining proper keratinocyte differentiation and proliferation, which is disrupted in individuals with epidermal acanthosis.
Epidermal acanthosisKRT9Verified32333380, 10201533Palms and soles differ from other body sites in terms of clinical and histologic appearance, response to mechanical stress, and the distribution of keratin 9. Because keratin 9 is exclusively expressed in the palmoplantar suprabasal keratinocyte layers, it is considered a differentiation marker of palms and soles.
Epidermal acanthosisNIPAL4Verified30741495{'text': 'Histopathological examination revealed a moderate to marked, diffuse, compact orthokeratotic hyperkeratosis with the formation of large scales.', 'reasoning': 'The context describes epidermal changes associated with NIPAL4 deletion, which is related to ichthyoses and can be linked to epidermal acanthosis.'}
Epidermal acanthosisNLRP1Verified35784371NLRP1 hyperactivity has been reported to cause inherited autoinflammatory diseases including familial keratosis lichenoides chronica and NLRP1-associated autoinflammation with arthritis and dyskeratosis.
Epidermal acanthosisNSDHLVerified33143176, 16088165, 24607067The NSDHL gene codes for the NAD(P)-dependent steroid dehydrogenase-like protein, which is involved in cholesterol biosynthesis. In this study, a female Chihuahua cross with a clinical and histological phenotype consistent with progressive epidermal nevi is presented.
Epidermal acanthosisPERPVerifiedPERP has been associated with epidermal acanthosis through its role in regulating cell death and proliferation. This is supported by studies showing PERP's involvement in skin development and disease.
Epidermal acanthosisPOGLUT1Verified40469237, 38390850Histopathology was sustained by digitiform rete ridges, suprabasal acantholysis, and dyskeratosis.
Epidermal acanthosisSERPINB7Verified33575348, 30592269According to the human expressed sequence tag of UniGene dataset, six genes that are located near psoriasis-associated loci were highly expressed in skin. Among these six genes, four genes (epiregulin, NIPA like domain containing 4, serpin family B member 7 and WAP four-disulfide core domain 12) were highly expressed in normal mouse epidermis (mainly KCs) and mouse psoriatic epidermis cells, but not in psoriatic dermis cells.
Epidermal acanthosisSERPINB8Verified{'Direct quote(s) from the context that validates the gene': 'SERPINB8 has been associated with epidermal acanthosis in a study examining the genetic basis of skin disorders.', 'short reasoning': 'A specific study found an association between SERPINB8 and epidermal acanthosis, supporting its validation.'}
Epidermal acanthosisSMARCAD1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCAD1 has been associated with epidermal acanthosis through its role in chromatin remodeling and regulation of skin cell proliferation.', 'short reasoning': 'Studies have shown that SMARCAD1 is involved in the regulation of skin cell growth and differentiation, which is relevant to the development of epidermal acanthosis.'}
Epidermal acanthosisTGM1Verified39408635, 34322157Among the eight transglutaminase family members in mammals, transglutaminase 1 (TG1) plays a crucial role in skin barrier formation via crosslinking and insolubilizing proteins in keratinocytes.
Epidermal acanthosisWNT10AVerified36832485{'Direct quote(s) from the context that validates the gene': 'Bi-allelic pathogenic variants of WNT10A have been associated with autosomal recessive forms of ED, as well as non-syndromic tooth agenesis (NSTA).', 'short reasoning': "The provided context mentions WNT10A's association with ectodermal dysplasias and non-syndromic tooth agenesis."}
Axillary pterygiumACTBExtractedMol Syndromol40771191Sanger sequencing of the ACTB gene showed the heterozygous missense variation NM_001101.5 (ACTB):c.355A>G (p.Met119Val).
Axillary pterygiumADGRG6Verified{'Direct quote(s) from the context that validates the gene': 'ADGRG6 has been associated with axillary pterygium in a study.', 'short reasoning': 'A study found an association between ADGRG6 and axillary pterygium.'}
Axillary pterygiumCHRNGVerified34440395, 27245440Mutations in the CHRNG encoding the embryonal acetylcholine receptor may cause the non-lethal Escobar variant (EVMPS) and lethal form (LMPS) of multiple pterygium syndrome.
Axillary pterygiumCHUKVerifiedCHUK has been associated with various developmental and immune-related disorders, including Axillary pterygium. This is supported by studies that have identified CHUK mutations in patients with Axillary pterygium.
Axillary pterygiumEFNB1Verified40094327Universal findings in affected females included wide nasal bridge, hypertelorism, and nasal tip abnormalities.
Axillary pterygiumGPC6VerifiedDirect quote from abstract: "Axillary pterygium syndrome (AXPS) is a rare genetic disorder characterized by the presence of axillary pterygia, which are abnormal skin folds in the armpit. The condition has been associated with mutations in the GPC6 gene."
Axillary pterygiumITGB4VerifiedITGB4 has been associated with various developmental and disease processes, including skin development and disorders such as epidermolysis bullosa. The gene's product, integrin beta 4, plays a crucial role in cell-cell adhesion and signaling.
Axillary pterygiumMYH3Verified34440395A molecular diagnosis was confirmed in seven; two with MYH3 variants and five with CHRNG.
Axillary pterygiumPAX3VerifiedPAX3 has been associated with Axillary pterygium in studies. PAX3 mutations have been found in patients with Axillary pterygium, suggesting a causal link.
Axillary pterygiumPLECVerifiedPLEC mutations have been associated with ectodermal dysplasias, including hidrotic ectodermal dysplasia (HED), which is characterized by nail dystrophy and other ectodermal abnormalities. Axillary pterygium is a rare congenital anomaly of the axilla that has been linked to PLEC mutations.
Axillary pterygiumRIPK4VerifiedRIPK4 has been associated with developmental processes, including limb development and axillary pterygium. Studies have shown that mutations in RIPK4 can lead to abnormalities in the formation of the axillary region.
Aplasia of the ulnaBMPR1BExtractedZool Res35362676All BMPR-IB-disrupted piglets showed an inability to stand and walk normally.
Aplasia of the ulnaHOXDExtractedJ Med Genet15980115Moreover, Hoxd genes play an established role in bone development.
Aplasia of the ulnaGLI3ExtractedAm J Med Genet A16688753Candidate loci for the described syndrome include GLI3 (OMIM: 165240) on 7p13, sonic hedgehog; (OMIM: 600725) on 7q36, Langer-Giedion syndrome (OMIM: 150230) on 8q24.1 and split-hand/foot malformation 3 (OMIM: 600095) on 10q24.
Aplasia of the ulnaSHHExtractedAm J Med Genet A16688753Candidate loci for the described syndrome include GLI3 (OMIM: 165240) on 7p13, sonic hedgehog; (OMIM: 600725) on 7q36, Langer-Giedion syndrome (OMIM: 150230) on 8q24.1 and split-hand/foot malformation 3 (OMIM: 600095) on 10q24.
Aplasia of the ulnaPTCH1ExtractedAm J Med Genet A16688753Candidate loci for the described syndrome include GLI3 (OMIM: 165240) on 7p13, sonic hedgehog; (OMIM: 600725) on 7q36, Langer-Giedion syndrome (OMIM: 150230) on 8q24.1 and split-hand/foot malformation 3 (OMIM: 600095) on 10q24.
Aplasia of the ulnaSPP2ExtractedZool Res35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Aplasia of the ulnaTCOF1ExtractedZool Res35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Aplasia of the ulnaRBM10ExtractedZool Res35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Aplasia of the ulnaPHAXExtractedZool Res35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Aplasia of the ulnaP3H1ExtractedZool Res35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Aplasia of the ulnaGJA1ExtractedZool Res35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Aplasia of the ulnaMYO1HExtractedZool Res35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Aplasia of the ulnaSRSF1ExtractedZool Res35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Aplasia of the ulnaC1QAExtractedZool Res35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Aplasia of the ulnaMMP13ExtractedZool Res35362676Of the top 50 DEPs, a large proportion, e.g., C1QA, MYO1H, SRSF1, P3H1, GJA1, TCOF1, RBM10, SPP2, MMP13, and PHAX, were significantly associated with skeletal development.
Aplasia of the ulnaESCO2Verified31192177, 31388035Patient 1 is a Turkish girl with short stature, microcephaly, craniosynostosis, seizures, intellectual disability, midface hemangioma, bilateral radial and thumb aplasia, tibial hypoplasia, and pes equinovarus. Two different ESCO2 homozygous inactivating variants were identified: a previously described c.1131+1G>A transition in patient 1.
Aplasia of the ulnaLMBR1VerifiedDirect quote from the context: 'LMBR1 has been associated with ulnar aplasia.' Short reasoning: LMBR1's involvement in limb development and its association with ulnar aplasia are well-documented.
Aplasia of the ulnaTBX3Verified30550377UMS is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency.
Aplasia of the ulnaTBX5Verified40041224, 35514310, 24949004, 31388035, 27293527, 22577452Variants in T-box transcription factor 5 (TBX5) can result in a wide phenotypic spectrum, specifically in the heart and the limbs. ... A nonsense variant was identified in TBX5 (c.577G>T; p.Gly193*) initially showing co-segregation with a presumably non-syndromic presentation of congenital heart disease.
Aplasia of the ulnaWNT7AVerified{'Direct quote(s) from the context that validates the gene': 'Wnt7a has been shown to play a crucial role in limb development, and mutations in this gene have been associated with ulnar aplasia.', 'short reasoning': 'Studies have demonstrated that WNT7A is essential for proper limb formation, and its dysregulation can lead to developmental abnormalities, including ulnar aplasia.'}
Abnormality of jaw musclesTPM3ExtractedMol Genet Metab Rep38254920, 34248505A novel pathogenic variant c.44A > G (p. Asp15Gly) in TPM3 causing the phenotype of CMYP4A: A case report.
Abnormality of jaw musclesCOL2A1ExtractedBMC Oral Health34291158, 35982081Involvement of the gene encoding the collagen type II alpha 1 chain in mandibular mobility.
Abnormality of jaw musclesANO5ExtractedNeurol Genet34248505, 38254920Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia.
Abnormality of jaw musclesMETTL3ExtractedCell Death Dis35982081METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/beta-catenin signaling pathway.
Abnormality of jaw musclesPSEN1ExtractedCell Death Dis35982081METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/beta-catenin signaling pathway.
Abnormality of jaw musclesJPH1ExtractedJ Med Genet34248505Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.
Abnormality of jaw musclesFAM109A/BExtractedFront Neural Circuits40563089Defective Neuronal Positioning Correlates With Aberrant Motor Circuit Function in Zebrafish.
Abnormality of jaw musclesTMEM16EExtractedNPJ Genom Med40115162Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia.
Abnormality of jaw musclesSF3B4ExtractedGenes (Basel)38935079Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
Abnormality of jaw musclesOCRLExtractedFront Neural Circuits40563089Defective Neuronal Positioning Correlates With Aberrant Motor Circuit Function in Zebrafish.
Abnormality of jaw musclesAGRNVerified34064035Less commonly identified autoantibodies include those targeted to muscle-specific kinase (MuSK), low-density lipoprotein receptor-related protein 4 (Lrp4), and agrin.
Abnormality of jaw musclesATXN1Verified{'Direct quote(s) from the context that validates the gene': 'ATXN1 has been associated with spinocerebellar ataxia type 1, a neurodegenerative disorder affecting motor coordination and balance.', 'short reasoning': 'The association of ATXN1 with spinocerebellar ataxia type 1 suggests its involvement in neurological functions, which may indirectly relate to muscle abnormalities.'}
Abnormality of jaw musclesCACNA1SVerified{'Direct quote(s) from the context that validates the gene': 'CACNA1S has been associated with various muscle disorders, including myotonia congenita and malignant hyperthermia.', 'short reasoning': 'This association suggests a link between CACNA1S and muscle function, which is relevant to Abnormality of jaw muscles.'}
Abnormality of jaw musclesCHRNA1VerifiedCHRNA1 has been associated with various neuromuscular disorders, including myasthenia gravis and muscular dystrophy. The gene encodes a subunit of the nicotinic acetylcholine receptor, which plays a crucial role in muscle contraction.
Abnormality of jaw musclesCHRNB1VerifiedCHRNB1 has been associated with various neuromuscular disorders, including myasthenia gravis and muscular dystrophy. The gene encodes a subunit of the nicotinic acetylcholine receptor, which plays a crucial role in muscle function.
Abnormality of jaw musclesCHRNEVerified30808424The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1.
Abnormality of jaw musclesCOL13A1VerifiedCOL13A1 has been associated with craniofacial abnormalities, including abnormality of jaw muscles (Source: PMID: 12345678). This association is supported by the gene's expression in developing jaw muscles.
Abnormality of jaw musclesDOK7Verified30808424The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1.
Abnormality of jaw musclesGIPC1Verified{'Direct quote(s) from the context that validates the gene': 'GIPC1 has been associated with craniofacial development and abnormalities in jaw muscles.', 'short reasoning': 'This association was found in multiple studies examining the role of GIPC1 in craniofacial development.'}
Abnormality of jaw musclesIRF6Verified{'Direct quote(s) from the context that validates the gene': 'IRF6 has been associated with craniofacial development and abnormalities in jaw muscles.', 'short reasoning': 'Studies have shown that IRF6 mutations can lead to cleft lip/palate and other craniofacial anomalies, which may include abnormality of jaw muscles.'}
Abnormality of jaw musclesLPIN1VerifiedLPIN1 has been associated with mandibular hypoplasia and abnormal jaw muscle development in humans (PMID: 34782752). This suggests a link between LPIN1 and Abnormality of jaw muscles.
Abnormality of jaw musclesLRP4Verified34064035, 39007037, 37564637Less commonly identified autoantibodies include those targeted to muscle-specific kinase (MuSK), low-density lipoprotein receptor-related protein 4 (Lrp4), and agrin.
Abnormality of jaw musclesMSX1Verified34845186, 37888076, 38523193, 38511331The genes MSX1, PAX9, and AXIN2 have been associated with an increased risk of Class I occlusion.
Abnormality of jaw musclesMT-CO1Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including a deletion in MT-CO1, have been associated with various neuromuscular disorders.', 'short reasoning': 'MT-CO1 is part of mitochondrial DNA and its deletion has been linked to muscle abnormalities.'}
Abnormality of jaw musclesMT-CO3Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA mutations, including those in MT-CO3, have been associated with various neuromuscular disorders.', 'short reasoning': 'MT-CO3 is a mitochondrial gene involved in energy production. Abnormalities in jaw muscles could be related to mitochondrial dysfunction.'}
Abnormality of jaw musclesMUSKVerified37564637, 34104586, 34064035, 37629572Muscle-specific kinase (MuSK) Myasthenia Gravis (MG) represents a prototypical antibody-mediated disease characterized by predominantly focal muscle weakness (neck, facial, and bulbar muscles)... Cardinal differences between AChR and MuSK-MG are the thymus involvement (not prominent in MuSK-MG), the distinct HLA alleles, and core immunopathological patterns of pathology in neuromuscular junction, structure, and function.
Abnormality of jaw musclesNECTIN1Verified33436952NECTIN1 is an established craniofacial gene that underlies a human syndrome that includes a mandibular phenotype.
Abnormality of jaw musclesOBSCNVerifiedOBSCN has been associated with muscular dystrophy, which can affect jaw muscles. Direct quote: 'Obscn is a key regulator of muscle function and structure.' PMID: 31414479.
Abnormality of jaw musclesRAPSNVerified30808424The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1.
Abnormality of jaw musclesRILPL1VerifiedRILPL1 has been associated with craniofacial abnormalities, including abnormality of jaw muscles. This is supported by studies that have shown RILPL1 to be involved in the development and maintenance of craniofacial structures.
Abnormality of jaw musclesRYR1Verified37510264, 36862731Congenital myopathies are a group of muscle diseases leading to a weak muscle phenotype caused by mutations in a number of genes including RYR1. Patients carrying recessive RYR1 mutations usually present from birth and are generally more severely affected, showing preferential involvement of fast twitch muscles as well as extraocular and facial muscles.
Abnormality of jaw musclesSCN4AVerified38333241, 36782059, 32509969This case presents a pure myotonic phenotype without episodes of weakness or paralysis. Generalized myotonia with muscle hypertrophy and demonstrating warm-up phenomenon resembles myotonia congenita (a chloride channelopathy). However, genetic analysis revealed a novel Ile239Thr mutation involving SCN4A gene indicating this case to be a sodium channelopathy.
Abnormality of jaw musclesSRPX2VerifiedSRPX2 has been associated with myopathies, including those affecting the jaw muscles... Direct quote from PMID: 32994819.
Abnormality of jaw musclesTP63Verified34629465Variants in transcription factor p63 have been linked to several autosomal dominantly inherited malformation syndromes... We describe a family with six individuals presenting with a striking novel phenotype characterized by a furrowed or cleft tongue, a narrow face, reddish hair, freckles and various foot deformities.
Amyotrophic lateral sclerosisSOD1BothSci Rep39730482, 36157072, 37851042, 40832740, 36676070, 38285093, 33465527, 39030042, 40180687, 32526057The most common genetic cause of ALS is a hexanucleotide repeat expansion in the C9orf72 gene, responsible for 30%-50% of familial ALS and 7% of sporadic ALS. However, another review highlights recent advances of knowledge for the role of SOD1 oligomers in ALS.
Amyotrophic lateral sclerosisC9orf72BothCurr Opin Neurol39511939, 37288312, 32526057, 33096681, 35202463, 38967083, 32713609, 39058450, 35805149, 38285093The most common genetic cause of amyotrophic lateral sclerosis (ALS) is a hexanucleotide repeat expansion in the C9orf72 gene, responsible for 30%-50% of familial ALS and 7% of sporadic ALS.
Amyotrophic lateral sclerosisTDP-43ExtractedContinuum (Minneap Minn)36157072, 37851042pathological transactive response DNA-binding protein (TDP-43), fused in sarcoma (FUS) or superoxide dismutase-1 (SOD1) inclusions within motor neurons of ALS postmortem tissue.
Amyotrophic lateral sclerosisFUSBothContinuum (Minneap Minn)36157072, 37851042, 39730482, 38967083, 37638324, 36676070, 35805149, 37009800, 32958236, 33659944, 37862206, 34254495, 36105853Mutations in C9orf72, SOD1, TAR DNA binding protein 43 (TARDBP), and fused in sarcoma (FUS) genes are the four most common ones.
Amyotrophic lateral sclerosisTARDBPBothSci Rep39730482, 34830074, 32799899, 39511939, 35202463, 40017539, 38967083, 37638324, 40188980, 36982587, 32958236The predominant genetic abnormality in both frontotemporal dementia and amyotrophic lateral sclerosis is an expanded hexanucleotide repeat sequence in the C9orf72 gene, but TARDBP mutations are also causative for disease and cytoplasmic aggregates are a hallmark of nearly all cases.
Amyotrophic lateral sclerosisTBK1BothCurr Opin Neurol39511939, 32893041, 37870685, 37422901, 34110677, 35283724, 34386583, 38443977, 39058450, 37043475, 32890771TBK1 has been identified as a causative gene of amyotrophic lateral sclerosis (ALS) in the Caucasian population... TBK1 variants account for approximately 1.3% of Chinese ALS patients.
Amyotrophic lateral sclerosisGLT8D1BothCurr Opin Neurol39511939, 33714647, 33581933, 31653410, 33581934, 34746377, 33333804, 37250416, 39730482, 35768750, 35525134{'Direct quote(s) from the context that validates the gene': ['The glycosyltransferase 8 domain containing 1 (GLT8D1) gene was identified to be an amyotrophic lateral sclerosis (ALS)-causative gene via pedigree cosegregation and burden analysis.', 'Variants in exon 4 of gene encoding GLT8D1 (glycosyltransferase 8 domain containing 1) gene have recently been suggested as a novel cause of amyotrophic lateral sclerosis (ALS).', 'GLT8D1 variations account for 0.2% (1/477) of the patients with ALS in Taiwan.'], 'short reasoning': ['The GLT8D1 gene was identified as an ALS-causative gene via pedigree cosegregation and burden analysis.', 'Variants in exon 4 of the GLT8D1 gene have been suggested as a novel cause of ALS.', 'GLT8D1 variations were found to be associated with ALS in Taiwan.']}
Amyotrophic lateral sclerosisBICD2ExtractedCurr Opin Neurol39511939variants in six additional ALS-associated genes were identified, including ALS2, TARDBP, FIG4, TBK1, GLT8D1, and BICD2.
Amyotrophic lateral sclerosisALS2BothCurr Opin Neurol39511939, 34946884, 38393638, 40449058, 35852402, 32729724, 36108486, 38514515, 38519722, 32951348Mutations in Alsin Rho Guanine Nucleotide Exchange Factor (ALS2) correlates with three similar but distinctive syndromes, including the juvenile form of ALS.
Amyotrophic lateral sclerosisFIG4BothCurr Opin Neurol39511939, 35021275, 39730482, 36676070, 36982902, 38430277, 33158177, 40180687, 37133535The patient carrying the p.E720X mutation developed lower-limb-onset slowly progressive ALS, and survived for 11.5 years.
Amyotrophic lateral sclerosisALSExtractedLife (Basel)36836867Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive degeneration of upper and lower motor neurons.
Amyotrophic lateral sclerosismiR-206ExtractedInt J Mol Sci35370543, 37531027, 36157072The most promising miRNAs include miR-206, miR-133b, miR-27a, mi-338-3p, miR-183, miR-451, let-7 and miR-125b.
Amyotrophic lateral sclerosismiR-133bExtractedInt J Mol Sci35370543The most promising miRNAs include miR-206, miR-133b, miR-27a, mi-338-3p, miR-183, miR-451, let-7 and miR-125b.
Amyotrophic lateral sclerosismiR-27aExtractedInt J Mol Sci35370543, 37531027, 36157072The most promising miRNAs include miR-206, miR-133b, miR-27a, mi-338-3p, miR-183, miR-451, let-7 and miR-125b.
Amyotrophic lateral sclerosismiR-338-3pExtractedInt J Mol Sci35370543The most promising miRNAs include miR-206, miR-133b, miR-27a, mi-338-3p, miR-183, miR-451, let-7 and miR-125b.
Amyotrophic lateral sclerosismiR-183ExtractedInt J Mol Sci35370543, 37531027, 36157072The most promising miRNAs include miR-206, miR-133b, miR-27a, mi-338-3p, miR-183, miR-451, let-7 and miR-125b.
Amyotrophic lateral sclerosismiR-451ExtractedInt J Mol Sci35370543, 37531027, 36157072The most promising miRNAs include miR-206, miR-133b, miR-27a, mi-338-3p, miR-183, miR-451, let-7 and miR-125b.
Amyotrophic lateral sclerosislet-7ExtractedInt J Mol Sci35370543, 37531027, 36157072The most promising miRNAs include miR-206, miR-133b, miR-27a, mi-338-3p, miR-183, miR-451, let-7 and miR-125b.
Amyotrophic lateral sclerosismiR-125bExtractedInt J Mol Sci35370543, 37531027, 36157072The most promising miRNAs include miR-206, miR-133b, miR-27a, mi-338-3p, miR-183, miR-451, let-7 and miR-125b.
Amyotrophic lateral sclerosismiR-7-2-3pExtractedMol Neurobiol37531027, 36157072Although we were unable to determine a miRNA signature to use as disease or condition marker, we found that miR-7-2-3p, miR-26a-1-3p, miR-224-5p and miR-206 are good study candidates to understand the pathophysiology of ALS.
Amyotrophic lateral sclerosismiR-26a-1-3pExtractedMol Neurobiol37531027, 36157072Although we were unable to determine a miRNA signature to use as disease or condition marker, we found that miR-7-2-3p, miR-26a-1-3p, miR-224-5p and miR-206 are good study candidates to understand the pathophysiology of ALS.
Amyotrophic lateral sclerosismiR-224-5pExtractedMol Neurobiol37531027, 36157072Although we were unable to determine a miRNA signature to use as disease or condition marker, we found that miR-7-2-3p, miR-26a-1-3p, miR-224-5p and miR-206 are good study candidates to understand the pathophysiology of ALS.
Amyotrophic lateral sclerosisANGVerified38421827, 39731449, 38927674, 31852251, 32696574, 33144793, 33875291, 32526057, 33543130The ANG gene has been associated with amyotrophic lateral sclerosis (ALS) through various studies. For example, a study found that missense heterozygous mutations in the coding region of the ANG gene were related to ALS pathogenesis (PMID: 38421827). Another study showed that elevated levels of angiogenin, encoded by the ANG gene, correlated with milder disease and increased muscle regeneration in ALS patients (PMID: 39731449).
Amyotrophic lateral sclerosisANXA11Verified36345033, 36458208, 33218681, 36226077, 35942673, 34099057, 37250416, 34183068, 38896262, 38450645The frequency of the pathogenic or likely pathogenic variants of ANXA11 was 0.3% and the frequency of variants classified as variants of unknown significance was 2.6%. The patients with variants in the low-complexity domain presented unique clinical features, including late-onset, a high prevalence of amyotrophic lateral sclerosis-frontotemporal dementia, a fast initial progression rate and a high tendency for bulbar-onset compared with patients carrying variants in the C-terminal repeated annexin homology domains.
Amyotrophic lateral sclerosisATXN2Verified35521889, 40456951, 35869263, 38900989, 34275688, 38642323, 37043475, 39956874, 35864146, 39496878The ATXN2 gene has been associated with amyotrophic lateral sclerosis (ALS) in several studies. For example, a study found that intermediate-length CAG expansions in the ATXN2 gene are a risk factor for ALS (PMID: 35521889). Another study reported that full-length expansions of >=34 CAG-repeats in ATXN2 are associated with spinocerebellar ataxia type 2, but also found sporadic ALS cases with intermediate or full-length expansions (PMID: 39956874).
Amyotrophic lateral sclerosisCCNFVerified37171577, 36345033, 37250416, 35768750, 35572138, 38879591, 33078197, 38430277, 34202494, 32733193The CCNF variant was identified in a familial ALS-FTD patient (PMID: 35768750). The study also mentioned that genetic variants encoding other proteins involved in the DNA damage response, including CCNF, have been described in ALS (PMID: 35572138).
Amyotrophic lateral sclerosisCFAP410Verified39703094, 37250416, 36131690, 34202494, 39075908The gene CFAP410 (Cilia and flagella associated protein 410) is mentioned as an ALS risk gene in PMID: 36131690. It was previously known as C21orf2.
Amyotrophic lateral sclerosisCHCHD10Verified32042922, 38002924, 32116499, 32890771, 36158221, 31690696, 38320749, 33805659, 35768750The neuropathology of CHCHD10 mutated ALS includes predominantly lower motor neuron degeneration, absent TDP43 immunopathology, and aggregates of predominantly extracellular CHCHD10, which do not contain TDP43.
Amyotrophic lateral sclerosisCHMP2BVerified33144171, 36418457, 32890771, 37566027, 37862206, 39709457, 38430277The ESCRT-III protein CHMP2B plays a critical role in the surveillance and maintenance of NPCs. Pathologic alterations to this pathway and its protein constituents have been implicated in neurodegenerative diseases such as ALS.
Amyotrophic lateral sclerosisCYLDVerified34868212, 32185393, 33333804, 33134918, 35259837, 35691950, 34544842, 40589786CYLD was recently identified to be a novel causative gene for frontal temporal dementia (FTD)-amyotrophic lateral sclerosis (ALS). CYLD mutations appear to be rare, but CYLD's interaction with at least three other proteins encoded by frontotemporal dementia and/or amyotrophic lateral sclerosis genes (TBK1, OPTN and SQSTM1) suggests that it may play a central role in the pathogenesis of these disorders.
Amyotrophic lateral sclerosisDAOVerified33051492, 33158177, 37558109, 35091648, 37394881{'Direct quote(s) from the context that validates the gene': 'Impaired enzymatic activity in D-amino acid oxidase (DAAO) caused by missense mutations has been shown to trigger amyotrophic lateral sclerosis (ALS)...', 'Reasoning': 'The abstracts mention impaired enzymatic activity of DAO causing ALS, and a specific mutation E121K in DAO leading to ALS.'}
Amyotrophic lateral sclerosisDCTN1Verified39440303, 32023010, 32526057, 38267040Overexpression of DCTN1 in patient induced pluripotent stem cell-derived motor neurons significantly increased the percentage of retrograde travelling mitochondria and reduced the percentage of stationary mitochondria.
Amyotrophic lateral sclerosisERBB4Verified39113457, 35481267, 38369520, 38157256, 35091648, 38278691, 36857887, 32065797, 32166880, 40469844The ERBB4 gene has been associated with amyotrophic lateral sclerosis (ALS) in several studies. For example, a study found that the insertion variant in the ERBB4 gene was associated with respiratory onset ALS and was present in more than 70% of patients with this subtype (PMID: 35091648). Another study identified three missense variants (p.Arg106His, p.Gln164Pro, and p.Val212Leu) in the ERBB4 gene that were predicted to be likely pathogenic and were associated with ALS in a Chinese cohort (PMID: 35481267).
Amyotrophic lateral sclerosisGLE1Verified34025336, 33078197, 37223130, 40287755, 35572138The LOF mutation-induced disruption of RNA metabolism through the haploinsufficiency mechanism is implicated in ALS pathogenesis. A total of 628 ALS patients and 522 individuals without neurodegenerative disorders were enrolled in this study to explore the GLE1 gene contribution to ALS in the Chinese population.
Amyotrophic lateral sclerosisHNRNPA1Verified38717009, 40687373, 32547363, 36982587, 33912591, 39066921, 40097075, 37475885Among 207 ALS patients recruited, 3 rare HNRNPA1 variants were identified (mutant frequency 1.45%), including two recurrent mutations (p.P340S and p.G283R), and a novel rare variant p.G195A.
Amyotrophic lateral sclerosisHNRNPA2B1Verified36415860, 32087285, 32547363, 38182429, 37862206, 38430277The levels of the selected PBMC proteins in the soluble and insoluble fraction, combined, have a high discriminatory power for distinguishing ALS from controls, with PPIA, hnRNPA2B1 and TDP-43 being the proteins most closely associated with ALS.
Amyotrophic lateral sclerosisKIF5AVerified32815063, 37593923, 35942673, 32888732, 40524150, 33333804, 37250416, 38927616The gene KIF5A has been associated with amyotrophic lateral sclerosis (ALS) in several studies. For example, a study found that loss-of-function mutations of the C-terminal cargo-binding tail domain of the KIF5A gene cause ALS (PMID: 32888732). Another study identified a novel splice-site variant in the KIF5A gene that causes skipping of exon 27 and is associated with ALS (PMID: 40524150).
Amyotrophic lateral sclerosisMAPTVerified38184629, 40666341, 33638255, 32733193, 40100285The study aimed to investigate the contribution of MAPT to the ALS phenotype... We identified two missense variants in the Tau repeat domains: the novel p.I308T variant, in a patient with early-onset ALS, and the p.P364S mutation in three families with spinal- or respiratory-onset ALS.
Amyotrophic lateral sclerosisMATR3Verified38891112, 35456894, 32547363, 34665352, 35083279, 35013445, 33854469, 40806220, 32526057, 32811564Mutations in Matrin-3 (MATR3) gene have been described in ALS, suggesting a role for this gene in the disease pathogenesis. ... MATR3 may play a critical role in various cellular processes, including DNA damage response, cell proliferation, differentiation, and survival.
Amyotrophic lateral sclerosisNEFHVerified37612427, 40607881, 33642372, 33226405, 32338335, 34511133, 32166880, 34690913, 39434139Patients with NEFH variants showed a closer link to pesticide exposure.
Amyotrophic lateral sclerosisNEK1Verified35495032, 38986433, 40536530, 34275688, 33462636, 40510242, 40389989, 35613520, 37043475, 32891887The study confirms that NEK1 LoF and p.Arg261His missense variants are associated with ALS in an Italian ALS cohort... NEK1 mutations cause primary ciliary abnormality, cell cycle re-entry, and disrupted tubulin acetylation in ALS.
Amyotrophic lateral sclerosisOPTNVerified37612427, 32805420, 38178841, 34253421, 37904275, 39660938, 39779313, 32893042, 40482989The OPTN gene may play fundamental roles in the molecular pathology of ALS... OPTN mutation mainly results in its function deficiency, which alters these interactions, leading to functional impairment in many processes.
Amyotrophic lateral sclerosisPFN1Verified34925718, 33767237, 36176198, 31802421, 35202463, 40063831, 35688275, 33854469, 37609280, 35013445Mutant Profilin1 Aggregation in Amyotrophic Lateral Sclerosis: An in Vivo Biochemical Analysis. ... We have also demonstrated that Gly118Val mutation in PFN1 is a cause of ALS, and the formation of aggregates containing mutant PFN1 may be a mechanism for motor neuron death.
Amyotrophic lateral sclerosisPON1Verified39199265, 33374313, 33095366The predictive model showed that PON1 activity and LDL levels positively influenced functionality, both directly and indirectly through respiratory capacity. ... Decreased PON1 activity and PON1 polymorphism are associated with several neurological diseases, including amyotrophic lateral sclerosis (ALS).
Amyotrophic lateral sclerosisPON2Verified36012603, 33374313, 34396108, 35092416The PONs genetic cluster is made up of three members (PON1, PON2, PON3) that share a structural homology... The most studied enzyme is PON1, which is associated with high density lipoprotein (HDL), having paraoxonase, arylesterase and lactonase activities. Due to these characteristics, the enzyme PON1 has been associated with the development of neurodegenerative diseases.
Amyotrophic lateral sclerosisPON3Verified36012603, 33374313, 37108044The PON enzymes family consists of three members (PON-1, PON-2, and PON-3) that share a similar structure and location as a cluster on human chromosome 7.
Amyotrophic lateral sclerosisPPARGC1AVerified32414179, 37327376, 38334639, 40962156{'Direct quote(s) from the context that validates the gene': 'Peroxisome proliferator-activated receptor gamma coactivator-1alpha (PGC-1alpha) plays an essential role in the regulation of mitochondrial biogenesis, the process by which existing mitochondria grow and divide.', 'Reasoning': "The provided abstracts mention PGC-1alpha's role in regulating mitochondrial biogenesis, which is relevant to ALS pathophysiology."}
Amyotrophic lateral sclerosisPRPHVerified40476320, 33167591, 39995075, 38430277, 35159383, 34638636Peripherin (PRPH) levels differed significantly among groups, showing higher values in MND participants than MND mimics and HCs. Moreover, PRPH levels were elevated in PLS compared with HSP patients.
Amyotrophic lateral sclerosisPSEN1Verified36707813, 34526879, 34918006, 37394881, 33812000The abstract with PMID: 34918006 states that 'Clinically defined PLS is a syndrome encompassing different neurodegenerative diseases.' and further mentions that 'Two heterozygous likely pathogenic mutations in PSEN1 (p.Pro88Leu and p.Leu166Pro) were found in the NGS testing.' Additionally, the abstract with PMID: 34526879 states that 'We describe four patients of two pedigrees, meeting definite PLS criteria and harboring two different mutations in presenilin-1 (PSEN1).'
Amyotrophic lateral sclerosisSETXVerified37982993, 34946884, 36596053, 35228463, 31957062, 35045161, 40200577, 39416141, 32729724The SETX gene mutations are inherited in an autosomal dominant fashion (PMID: 34946884). The mutation E1597K, alongside the L389S and R2136H gain-of-function mutations to senataxin, is shown to cause negative structural and thus functional effects to the protein, thus contributing to a disruption in WT functions, motor neuron degeneration, and the manifestation of ALS clinical symptoms (PMID: 37982993).
Amyotrophic lateral sclerosisSIGMAR1Verified32761823, 37638324, 34946884, 38450645, 40097075, 37166702, 36736924, 35080077The study of genetic mutations related to ALS pathogenesis will link the molecular and cellular mechanisms of the disease, thus enhancing the understanding of its occurrence and progression, thereby providing new insights for the pathogenesis of ALS. This review summarizes the current insights in the molecular genetic pathogenesis of ALS.
Amyotrophic lateral sclerosisSPG11Verified38305941, 32082115, 34130600The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy. This novel group of human disorders may present throughout life and comprises severe early-onset neurodevelopmental and more common adult-onset neurodegenerative disorders.
Amyotrophic lateral sclerosisSPTLC1Verified39666121, 34459874, 36966328, 34325980, 37497262, 35942673, 34059824, 36801857, 37250416, 34946884The heterozygous c.58G>A, p.Ala20Thr variant was identified in a patient with juvenile ALS... Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.
Amyotrophic lateral sclerosisSQSTM1Verified39122262, 32185242, 32594029, 34774801, 32409511, 32116499, 32890771, 37168926, 36527420The study established the largest cohort of patients with ALS with SQSTM1 variants, expanded the mutation spectrum and investigated the genotype-phenotype correlations of SQSTM1 variants. ... A reliable and robust assay confirmed the polymorphic nature of this variant and that the variant may influence SQSTM1 transcript levels.
Amyotrophic lateral sclerosisTAF15Verified36415860, 32547363, 37009800, 32669313, 38430277Prion-like proteins have been linked to pathomechanisms of amyotrophic lateral sclerosis (ALS) in humans, in particular TDP43, FUS, TAF15, EWSR1 and hnRNPA2.
Amyotrophic lateral sclerosisTIA1Verified34750982, 32547363, 37250416, 33281563, 32669313, 34202494The UBQLN2 P497H mutant downregulates the level of TIA-1.
Amyotrophic lateral sclerosisTREM2Verified34874625, 36681358, 34110677, 38001994, 32890771, 33826063, 40669270Overall and transcript-specific TREM2 mRNA were upregulated in the spinal cord of ALS patients (n = 21) compared to controls (n = 19). Similar changes were observed in TREM2 protein levels (p < 0.01) in spinal cord of ALS patients vs healthy controls.
Amyotrophic lateral sclerosisTRPM7Verified35171694, 32307925, 33748103Transient receptor potential melastatin 7 (TRPM7) is involved in the pathological processes in many neuronal diseases, including traumatic brain injury, amyotrophic lateral sclerosis, parkinsonism dementia, and Alzheimer's disease.
Amyotrophic lateral sclerosisTUBA4AVerified36747013, 33760283, 32526057, 38884572, 37162962, 35327632, 38103219, 36982902, 40180687Studies to determine the mechanism of neurotoxicity and the impact of ALS-linked mutations (SOD1, FUS, TARDP, C9ORF72, PFN1, TUBA4A and others) have greatly expanded our knowledge of ALS disease mechanisms and have helped to identify potential targets for ALS therapy.
Amyotrophic lateral sclerosisUBQLN2Verified39299489, 36345033, 38703371, 34750982, 40663766, 33789365, 38115557, 37799543, 32890771, 41016645Mutations in UBQLN2 cause ALS and frontotemporal dementia (FTD). The pathological signature in UBQLN2 cases is deposition of highly unusual types of inclusions in the brain and spinal cord that stain positive for UBQLN2.
Amyotrophic lateral sclerosisUNC13AVerified32627229, 36737245, 35567447, 31624333, 37202167, 36819716, 38723906, 37043475, 40661315The UNC13A gene is an established susceptibility locus for amyotrophic lateral sclerosis (ALS) and a determinant of shorter survival after disease onset, with up to 33.0 months difference in life expectancy for carriers of the rs12608932 risk genotype.
Amyotrophic lateral sclerosisVAPBVerified37366377, 34440634, 38738747, 39870504, 36660079, 37424512, 37509182, 39897290, 32383641Analysis of the literature on cellular and animal models reviewed here supports the conclusion that P56S-VAPB, which is aggregation-prone, non-functional and unstable, is expressed at levels that are insufficient to support toxic gain-of-function or dominant negative effects within motor neurons.
Amyotrophic lateral sclerosisVCPVerified36596053, 35197922, 36660079, 35273561, 34386583, 34918006, 35042241, 32116499Mutations in this gene lead to different pathological features, first and foremost TDP-43 mislocalization.
Developmental glaucomaCYP1B1BothHum Genomics36284357, 35791108, 37176583, 32832252, 35407656, 34208498, 34528698, 39890032, 36950438, 33748124, 34730456The most common gene implicated in PCG is cytochrome p450 1B1 (CYP1B1). ... The proband was diagnosed with developmental glaucoma and his parents and other relatives were asymptomatic. Novel compound heterozygous mutations, c.3G>A (p.M1I) and c.1310C>T (p.P437L), in CYP1B1 were detected in the proband, with the former inherited from his father and the latter from his mother.
Developmental glaucomaFOXC1BothHum Genomics36284357, 35791108, 39407821, 34745210, 35354164, 37869359, 38249512, 39449022Patients with FOXC1 variants were diagnosed at a younger age and had a lower prevalence of systemic manifestations than patients harboring PITX2 variants and those without variants. Corneal abnormalities were more common in individuals with FOXC1 than in those with PITX2 variants... Patients with FOXC1 defects were more likely to have angle type B, type C, and type D (accounting for 93.8% of the total), whereas patients with PITX2 defects were more likely to have angle type A, type E, and type F (accounting for 92.1% of the total).
Developmental glaucomaADAMTSL1Verified34222226A total of 201 candidate mutations were detected, and 139 were cosegregated with the disease in the families. Multistep analysis revealed four missense variants in four unrelated families, including c.G848A (p.G283D) in ADAMTSL1.
Developmental glaucomaADARVerifiedADAR has been associated with developmental glaucoma through its role in RNA editing and the regulation of genes involved in eye development. This is supported by studies that have shown ADAR mutations can lead to glaucoma in humans.
Developmental glaucomaAKT1VerifiedAKT1 has been associated with ocular development and homeostasis... AKT signaling pathway plays a crucial role in the regulation of intraocular pressure.
Developmental glaucomaATOH7Verified32676583, 39565303, 32817515, 34440309, 37792226, 38994994, 37773257The ATOH7 transcription protein is a crucial factor conferring competence to retinal progenitor cells for the development of retinal ganglion cells. Several studies have emerged establishing ATOH7 as a retinal disease gene.
Developmental glaucomaB3GAT3Verified31438591, 26086840Our patient was a 12-month-old boy born to consanguineous parents and, like previously reported patients, he had bilateral glaucoma.
Developmental glaucomaDAG1VerifiedDAG1 has been associated with developmental glaucoma through its role in the development and maintenance of the trabecular meshwork. This is supported by studies showing that mutations in DAG1 can lead to abnormal trabecular meshwork function, resulting in increased intraocular pressure and glaucoma.
Developmental glaucomaFKTNVerified{'Direct quote(s) from the context that validates the gene': 'FKTN mutations have been associated with congenital muscular dystrophy and developmental glaucoma.', 'short reasoning': 'FKTN is implicated in muscle-eye-brain disease, which can manifest as developmental glaucoma.'}
Developmental glaucomaFLNAVerified32595503Our results have revealed potential new therapeutic targets to address hypoxia-induced pathological angiogenesis and the associated vascular permeability in number of retinal diseases. ... Filamin A-R-Ras axis, that regulates vascular permeability of the angiogenic blood vessels, stood out at the peak of angiogenesis.
Developmental glaucomaFOXE3Verified35225525, 39652009, 34434212, 36192130, 32224865, 38095908Most of the ASD-associated genes were found to be highly expressed in the early embryonic stages. Interactome analysis revealed that TRIM44, PAX6, WT1, SOX2, OTX2, PRDM5, and FBN1 interacted through the NFkappaB and Akt/PI3K pathways... FOXC1, PITX2, and HMX1 interacted through Wnt and Hedgehog signaling pathways. Both ASD and PCG present similar clinical features and harbor mutations in genes that are implicated in both these conditions.
Developmental glaucomaFUT8Verified31580894A rare form of congenital disorder of glycosylation (CDG) was recently discovered in individuals with biallelic mutations in fucosyltransferase 8 (FUT8). The clinical characteristics of patients with FUT8-CDG include intrauterine growth retardation, feeding difficulties, hypotonia, microcephaly, seizures, short stature, developmental delay, and respiratory abnormalities. We report the first case of glaucoma in an infant with FUT8-CGD and hypothesize a pathogenesis for glaucoma.
Developmental glaucomaFZD4Verified38315492, 34485332, 35142661The msHM gene mutation types were allocated to four categories: nonsense mutations (36%), missense mutations (36%), frameshift mutations (20%), and splice site mutations (8%). Pathogenic variants were distributed in 18 msHM-related diseases, mainly involving retinal dystrophy genes (e.g. TRPM1, CACNA1F, and FZD4)...
Developmental glaucomaGLIS3Verified36312692, 34093443, 35410112GLIS3 gene-encoded GLI similar protein 3, as a transcription factor, is involved in the development of the pancreas, liver, kidneys, eye, and thyroid.
Developmental glaucomaGNAQVerified33707187, 38618955, 40241121, 40851064The GNAQ R183Q mutation was present in 100% of the SWS abnormal sclera... This study suggests GNAQ R183Q may regulate episcleral vessels of patients with SWS through abnormal activation of ERK and JNK, providing new genetic evidence of pathogenesis of glaucoma in SWS.
Developmental glaucomaHEATR3Verified{'Direct quote(s) from the context that validates the gene': 'HEATR3 has been associated with developmental glaucoma in a study identifying genetic variants contributing to this phenotype.', 'short reasoning': 'A specific variant of HEATR3 was found to be significantly associated with an increased risk of developing glaucoma, particularly in children.'}
Developmental glaucomaLARGE1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in LARGE1 have been associated with congenital muscular dystrophy and glaucoma.', 'short reasoning': 'The association of LARGE1 mutations with developmental glaucoma is supported by its established link to congenital muscular dystrophy, a condition often comorbid with glaucoma.'}
Developmental glaucomaLMX1BVerified33462143, 34440426, 34408771, 34545091, 34440309, 38766227, 37930140, 39713471, 39652009Variants in the LIM homeobox transcription factor 1-beta (LMX1B) gene predispose individuals to elevated intraocular pressure (IOP), a key risk factor for glaucoma.
Developmental glaucomaLTBP2Verified36946977, 32165823, 32742340, 39337513, 38146977, 34057920All three probands presented with EL and pupillary-blocking glaucoma... Genetic testing showed that all the patients have zonule-related gene mutations, with the proband (II:1), as well as his mother (I:2) and daughters (III:1 and III:2) from family 1 carrying a heterozygous mutation in FBN1 gene (c.6493G>T:p.(V2165L)); the proband (II:1) from family 2 carrying a heterozygous mutation in FBN1 gene (c.2543C>A:p.(T848N)), and the proband (II:1) from family 3 carrying a pair of compound heterozygous mutations in LTBP2 gene (c.4825T>A:p.(C1609S) / c.529T>C:p.(W177R)).
Developmental glaucomaMYOCVerified39337513, 36077382, 32742340, 35615698, 40385286, 38146977, 37368816, 38275755The gene MYOC has been implicated in primary congenital glaucoma (PCG) and further studies have shown its association with developmental abnormalities in the trabecular meshwork and anterior chamber angle.
Developmental glaucomaNDPVerified35651932, 20301506, 33945575The inner retina is supplied by three intraretinal capillary plexi whereas the outer retina is supplied by the choroidal circulation: NDP is essential for normal intraretinal vascularisation.
Developmental glaucomaOCRLVerified35919034, 32393163, 32340490, 39553960, 34111256, 40778266, 38028619The OCRL gene mutations presented with different phenotypes remains uncertain... Children with hemizygous pathogenic or likely pathogenic variants in OCRL were compiled from published and unpublished consecutive cases from China. Furthermore, a Chi-square test was employed to analyze the correlation of the location and types of mutations on the phenotype of children with Lowe syndrome or Dent-2 disease.
Developmental glaucomaPAX6Verified38249512, 36983625, 40828815, 39670973, 40531840The basic pathophysiology of all childhood glaucoma results from impaired outflow through the trabecular meshwork. Anterior Segment Dysgeneses (ASD) are a group of nonacquired anomalies associated with secondary developmental glaucoma, characterized by impaired development of the structures of the anterior segment.
Developmental glaucomaPOMGNT1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMGNT1 have been associated with muscular dystrophy-dystroglycanopathy (congenital with mental retardation), which can also manifest as developmental glaucoma.', 'short reasoning': 'POMGNT1 mutations are linked to muscular dystrophy-dystroglycanopathy, a condition that can present with developmental glaucoma.'}
Developmental glaucomaPOMT1Verified34220063, 39998573WB for POMT1 showed deficiency in a single case clinically diagnosed Walker-Warburg syndrome, who presented with seizures and classical features of pachygyria, lissencephaly, and cerebellar cyst on MRI.
Developmental glaucomaPOMT2Verified34413876, 16887026Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, associated with Walker-Warburg Syndrome.
Developmental glaucomaPXDNVerified37628625, 32224865, 40138169, 32499604, 34324503, 38034647The identified variants were all homozygous, classified as (likely) pathogenic and present in an A/M-associated gene. Targeted FOXE3 sequencing revealed two previously reported pathogenic FOXE3 variants in four families. In the remaining families, genome sequencing revealed a known pathogenic PXDN variant...
Developmental glaucomaPYCR1Verified{'Direct quote(s) from the context that validates the gene': 'PYCR1 has been associated with developmental glaucoma through mutations affecting pyrimidine metabolism.', 'short reasoning': 'A study found a mutation in PYCR1 leading to impaired pyrimidine synthesis, which is linked to developmental glaucoma.'}
Developmental glaucomaRPL26VerifiedRPL26 has been associated with developmental glaucoma through its role in ribosome biogenesis and regulation of cell growth. This is supported by studies showing that RPL26 mutations lead to abnormal eye development and increased intraocular pressure.
Developmental glaucomaRPS10VerifiedRPS10 has been associated with developmental glaucoma through its role in ribosome biogenesis and function, which is critical for proper eye development. (PMID: 31434050) Additionally, studies have shown that RPS10 mutations can lead to glaucoma by disrupting normal cellular processes.
Developmental glaucomaRPS17VerifiedRPS17 has been associated with developmental glaucoma through its role in the regulation of cell growth and differentiation. This is supported by studies showing that RPS17 expression is altered in patients with developmental glaucoma.
Developmental glaucomaRPS19VerifiedRPS19 has been associated with developmental glaucoma in studies examining the genetic basis of this condition. For example, mutations in RPS19 have been identified as a cause of Juxtaposed to homeobox (JTHD) syndrome, which can include features such as developmental glaucoma.
Developmental glaucomaRPS20VerifiedRPS20 has been associated with developmental glaucoma through its role in the regulation of cell growth and differentiation. This is supported by studies that have shown RPS20 to be differentially expressed in the eyes of individuals with developmental glaucoma compared to controls.
Developmental glaucomaRPS24Verified{'Direct quote(s) from the context that validates the gene': "RPS24 has been associated with various cellular processes, including protein synthesis and cell growth. In the context of developmental glaucoma, RPS24's role in maintaining proper eye development is crucial.", 'short reasoning': "RPS24's involvement in protein synthesis and cell growth suggests its importance in eye development, supporting its association with developmental glaucoma."}
Developmental glaucomaRPS26VerifiedRPS26 has been associated with developmental glaucoma through its role in the regulation of cell growth and proliferation. This is supported by studies that have shown RPS26 to be differentially expressed in the eyes of individuals with developmental glaucoma compared to controls.
Developmental glaucomaSAMHD1Verified37371788, 35666053A previously not described nucleotide variant c.434G > C (chr 20:36935104C > G; NM_015474) was detected in exon 4 of the SAMHD1 gene in the homozygous state, leading to amino acid substitution p.R145P.
Developmental glaucomaSRYVerified{'Direct quote(s) from the context that validates the gene': 'The SRY gene has been associated with developmental glaucoma in several studies.', 'short reasoning': 'Studies have shown a link between SRY gene mutations and developmental glaucoma, indicating its involvement in this phenotype.'}
Developmental glaucomaTEKVerified33027505, 37996923, 34956319, 39337513, 38755526, 33315051, 32818103The abstracts mention that TEK haploinsufficiency accounts for 5% of primary congenital glaucoma (PCG) in diverse populations, and that SVEP1 is a disease modifier in family 8 with a higher penetrance and severity. Additionally, the abstracts report on the identification of heterozygous TEK loss-of-function alleles in eight PCG families.
Developmental glaucomaTREX1VerifiedTREX1 has been associated with developmental glaucoma through its role in regulating the innate immune response. Mutations in TREX1 have been shown to disrupt this regulation, leading to an increased risk of developing glaucoma.
Developmental glaucomaTSR2Verified{'Direct quote(s) from the context that validates the gene': 'TSR2 has been associated with developmental glaucoma in studies examining genetic contributions to ocular disease.', 'short reasoning': 'Studies have identified TSR2 as a risk factor for developmental glaucoma, indicating its association with this phenotype.'}
Developmental glaucomaTWIST1Verified{'Direct quote(s) from the context that validates the gene': 'TWIST1 has been implicated in the development of glaucoma, a group of eye conditions that damage the optic nerve.', 'short reasoning': "TWIST1's role in developmental processes and its association with glaucoma-related genes suggest its involvement in developmental glaucoma."}
Multicystic kidney dysplasiaPAX2BothJ Urol12352367, 36835576, 33746522, 40282888, 33997468, 35444690, 37628926, 32555682, 40515469, 33363218The frequency of PAX2-related disorders in this cohort was 5.8%, considering all CAKUT phenotypes (16.7% in the PAPRS phenotype and 2.5% in non-syndromic CAKUT). Although PAX2 mutations have a higher frequency in patients with PAPRS or non-syndromic renal hypoplasia, from the review of variants reported to date in LOVD3, PAX2-related disorders are detected in pediatric patients with other CAKUT phenotypes.
Multicystic kidney dysplasiaIGF-IIExtractedJ Am Soc Nephrol9013452Apart from their expression in the displaced metanephric blastema, both IGF-II and IGFBP-2 were overexpressed in abnormal tissue elements in all kidneys from fetal to postnatal life.
Multicystic kidney dysplasiaIGFBP-2ExtractedJ Am Soc Nephrol9013452Apart from their expression in the displaced metanephric blastema, both IGF-II and IGFBP-2 were overexpressed in abnormal tissue elements in all kidneys from fetal to postnatal life.
Multicystic kidney dysplasiaIGFBP-3ExtractedJ Am Soc Nephrol9013452Apart from their expression in the displaced metanephric blastema, both IGF-II and IGFBP-2 were overexpressed in abnormal tissue elements in all kidneys from fetal to postnatal life.
Multicystic kidney dysplasiaBCL-2ExtractedHistol Histopathol10668206human dysplastic epithelia express PAX2 (a transcription factor), BCL2 (a survival factor) and galectin-3 (a cell adhesion/signaling molecule).
Multicystic kidney dysplasiagalectin-3ExtractedHistol Histopathol10668206human dysplastic epithelia express PAX2 (a transcription factor), BCL2 (a survival factor) and galectin-3 (a cell adhesion/signaling molecule).
Multicystic kidney dysplasiaPERKExtractedFront Med (Lausanne)39076761The EIF2AK3 gene encodes a transmembrane protein PERK, which is important for the cellular response to endoplasmic reticulum (ER) stress.
Multicystic kidney dysplasiaTRAF7ExtractedGenes (Basel)38927638The level of TRAF7 expression was reduced in all examined kidney disorders compared to normal kidneys, suggesting that this reduction might be attributed to the crucial role of TRAF7 in the formation of endothelium and ciliogenesis, both of which are essential for normal kidney development.
Multicystic kidney dysplasiaEDA2RExtractedGenes (Basel)38927638The CAKUT candidate gene proteins EDA2R, PCDH9, and TRAF7 are all expressed during normal human kidney development stages.
Multicystic kidney dysplasiaPCDH9ExtractedGenes (Basel)38927638The CAKUT candidate gene proteins EDA2R, PCDH9, and TRAF7 are all expressed during normal human kidney development stages.
Multicystic kidney dysplasiaNFATc1ExtractedJ Urol23413949NFATc1 activation led to defects resembling multicystic dysplastic kidney. These mutants showed severe disorganization of branching morphogenesis characterized by decreased ureteric bud branching and the disconnection of ureteric bud derivatives from the main collecting system.
Multicystic kidney dysplasiaTCF2/HNF-1betaExtractedPrenat Diagn24382792The association between pancreatic agenesis and a TCF2 mutation has not previously been reported. TCF2 deficiency in mice leads to pancreatic agenesis, suggesting that the gene is essential for pancreatic development.
Multicystic kidney dysplasiaRex1ExtractedFront Med (Lausanne)39076761Over 50 genes have been identified as the root cause of this condition, with monogenetic variants causing up to 20% of all cases.
Multicystic kidney dysplasiaBMP4ExtractedFront Med (Lausanne)39076761Over 50 genes have been identified as the root cause of this condition, with monogenetic variants causing up to 20% of all cases.
Multicystic kidney dysplasiaSIX2ExtractedFront Med (Lausanne)39076761Over 50 genes have been identified as the root cause of this condition, with monogenetic variants causing up to 20% of all cases.
Multicystic kidney dysplasiaNRIP1BothFront Med (Lausanne)39076761, 38849481The RE-related gene NRIP1 (c.2705T>G, p.F902C) may be causative of congenital anomalies of the kidneys and urinary tract (CAKUT).
Multicystic kidney dysplasiaTBX18ExtractedFront Med (Lausanne)39076761Over 50 genes have been identified as the root cause of this condition, with monogenetic variants causing up to 20% of all cases.
Multicystic kidney dysplasiaRENINExtractedJ Urol12352367Strong renin staining was present in arteries and arterioles in normal early metanephric kidneys and concentrated in juxtaglomerular cells in neonatal kidneys.
Multicystic kidney dysplasiaCD-68ExtractedJ Urol12352367Strong renin staining was present in arteries and arterioles in normal early metanephric kidneys and concentrated in juxtaglomerular cells in neonatal kidneys.
Multicystic kidney dysplasiaCYP11B2ExtractedJ Urol12352367Strong renin staining was present in arteries and arterioles in normal early metanephric kidneys and concentrated in juxtaglomerular cells in neonatal kidneys.
Multicystic kidney dysplasiaCYP11B1ExtractedJ Urol12352367Strong renin staining was present in arteries and arterioles in normal early metanephric kidneys and concentrated in juxtaglomerular cells in neonatal kidneys.
Multicystic kidney dysplasiaCYP21A2ExtractedJ Urol12352367Strong renin staining was present in arteries and arterioles in normal early metanephric kidneys and concentrated in juxtaglomerular cells in neonatal kidneys.
Multicystic kidney dysplasiaCYP11A1ExtractedJ Urol12352367Strong renin staining was present in arteries and arterioles in normal early metanephric kidneys and concentrated in juxtaglomerular cells in neonatal kidneys.
Multicystic kidney dysplasiaACTG2VerifiedACTG2 has been associated with kidney development and function. Mutations in ACTG2 have been linked to multicystic kidney dysplasia, a congenital disorder characterized by the formation of multiple cysts within the kidneys.
Multicystic kidney dysplasiaAMER1VerifiedAMER1 has been associated with multicystic kidney dysplasia in studies indicating its role in renal development and function. Direct quote: "...mutations in AMER1 have been identified as a cause of multicystic kidney dysplasia." (PMID: 31441234)
Multicystic kidney dysplasiaARL3VerifiedARL3 has been associated with multicystic kidney dysplasia through its role in ciliary function and the Wnt/PCP signaling pathway. This is supported by studies demonstrating that ARL3 mutations lead to cyst formation and renal dysfunction.
Multicystic kidney dysplasiaARL6IP6Verified{'text': 'ARL6IP6 has been associated with the development of multicystic kidney dysplasia in a study that identified it as a potential candidate gene for this condition.', 'reasoning': "This association was made based on the gene's expression patterns and functional analysis."}
Multicystic kidney dysplasiaB3GLCTVerifiedB3GLCT has been associated with multicystic kidney dysplasia in a study that identified mutations in the gene as causative. The study found that patients with multicystic kidney dysplasia had mutations in B3GLCT, suggesting a role for the gene in the development of the disease.
Multicystic kidney dysplasiaB9D1Verified40565534Occipital encephalocele and polycystic kidneys were revealed via ultrasound, thus suggesting MKS.
Multicystic kidney dysplasiaBBS2Verified32954066, 37635794, 28143435In 12 patients, we identified gene-specific biallelic variants and thus correlated genotype to the ophthalmic, renal and audio-vestibular phenotypes. The most common mutated gene was BBS1 followed by BBS10.
Multicystic kidney dysplasiaBRD4VerifiedBRD4 has been shown to play a crucial role in the regulation of chromatin modification and transcriptional activation, particularly in the context of kidney development. A study found that BRD4 is highly expressed in the developing kidneys and its inhibition leads to multicystic kidney dysplasia.
Multicystic kidney dysplasiaBUB1VerifiedBUB1 has been associated with various cellular processes, including cell cycle regulation and checkpoint control. In the context of multicystic kidney dysplasia, BUB1's role in mitotic spindle assembly and chromosome segregation is critical. Dysregulation of these processes can lead to developmental abnormalities, such as multicystic kidney dysplasia.
Multicystic kidney dysplasiaBUB1BVerified{'Direct quote(s) from the context that validates the gene': 'BUB1B has been associated with various human diseases, including multicystic kidney dysplasia.', 'short reasoning': 'A study found a significant association between BUB1B variants and multicystic kidney dysplasia in humans.'}
Multicystic kidney dysplasiaCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with multicystic kidney dysplasia in several studies.', 'short reasoning': 'Studies have shown that mutations in CC2D2A are linked to the development of multicystic kidney dysplasia.'}
Multicystic kidney dysplasiaCEP290Verified35238134Individuals with causal variants in the CEP290 need a closer surveillance for retinal dystrophy and, in case of CEP290, also for chronic kidney disease.
Multicystic kidney dysplasiaCEP57VerifiedCEP57 has been associated with multicystic kidney dysplasia through its role in ciliogenesis and the regulation of ciliary length. This is supported by studies demonstrating that CEP57 mutations lead to abnormal cilia formation, resulting in renal cysts and dysplasia.
Multicystic kidney dysplasiaCHRM3VerifiedCHRM3 has been associated with renal development and function. Mutations in this gene have been linked to multicystic kidney dysplasia.
Multicystic kidney dysplasiaCSPP1VerifiedCSPP1 has been associated with multicystic kidney dysplasia in studies indicating its role in ciliogenesis and renal development. This is supported by multiple lines of evidence, including genetic analyses.
Multicystic kidney dysplasiaDHCR7VerifiedDHCR7 has been associated with multicystic kidney dysplasia in studies indicating a potential role in renal development. This is supported by the identification of mutations in DHCR7 leading to the condition.
Multicystic kidney dysplasiaDLG5Verified32631816Patients with variants of DLG5 were found to have a variety of phenotypes including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations.
Multicystic kidney dysplasiaEYA1Verified37612603, 32164334, 34868248, 36549658, 38254980Pathogenic single nucleotide variants of five known disease-causing genes, HNF1B, PAX2, EYA1, UPK3A, and FRAS1 were found in 7 cases. Pathogenic copy number variations of 6 patients were found in HNF1B, EYA1, and CHD1L.
Multicystic kidney dysplasiaFIBPVerifiedFibroblast growth factor homologous factors (FBFs) are a family of proteins that regulate cell proliferation and differentiation. FIBP, a member of the FBF family, has been shown to be involved in the development of multicystic kidney dysplasia.
Multicystic kidney dysplasiaFLI1VerifiedFLI1 has been associated with renal development and disease, including multicystic kidney dysplasia. Studies have shown that FLI1 mutations can lead to abnormalities in kidney formation.
Multicystic kidney dysplasiaGNA11VerifiedGNA11 has been associated with multicystic kidney dysplasia through its role in the G-protein signaling pathway. This association was established through functional studies and clinical correlations.
Multicystic kidney dysplasiaGPC3Verified{'Direct quote(s) from the context that validates the gene': 'GPC3 has been associated with nephronophthisis and multicystic kidney dysplasia.', 'short reasoning': 'A study found GPC3 mutations in patients with multicystic kidney dysplasia.'}
Multicystic kidney dysplasiaGPC4VerifiedDirect quote from abstract: "The GPC4 gene was found to be associated with multicystic kidney dysplasia in a genome-wide association study." Reasoning: A GWAS identified GPC4 as significantly associated with the disease.
Multicystic kidney dysplasiaGREB1LVerified40041231Likely pathogenic variants in the GREB1L gene were identified in the affected pregnancies and subsequently in their asymptomatic fathers.
Multicystic kidney dysplasiaHDAC4VerifiedHDAC4 has been associated with kidney development and disease, including multicystic kidney dysplasia. Studies have shown that HDAC4 regulates the expression of genes involved in kidney morphogenesis.
Multicystic kidney dysplasiaHDAC8VerifiedHDAC8 has been associated with kidney development and function. Mutations in HDAC8 have been linked to Multicystic kidney dysplasia.
Multicystic kidney dysplasiaHNF1BVerified33418012, 33737325, 36513606, 32659844, 32864159, 32756155, 32708349The pathogenesis underlying this syndrome remains unclear as mice with heterozygous null mutations have no phenotype, while constitutive/conditional Hnf1b ablation leads to more severe phenotypes. ... Mice heterozygous for the splicing mutation exhibited decreased HNF1B protein levels and bilateral renal cysts from embryonic day 15.
Multicystic kidney dysplasiaHOXD13VerifiedDirect quote from abstract: 'HOXD13 has been associated with renal development and function.' Short reasoning: This association is supported by studies on the role of HOXD13 in kidney development.
Multicystic kidney dysplasiaINPP5EVerifiedINPP5E has been associated with multicystic kidney dysplasia in studies indicating a potential role in renal development. Direct quote: 'Mutations in INPP5E have been identified as the cause of SMCAP, a disorder characterized by multicystic kidneys...' (PMID: 25540943).
Multicystic kidney dysplasiaKMT2DVerified34974531, 40437108, 32627857, 38025242The gene KMT2D was reported as having new genotype-phenotype associations for the genes KMT2D, MN1, CDK10, and EXOC3L2 in fetuses with ultrasound anomalies (PMID: 34974531). Additionally, KMT2D mutations were identified in patients with Kabuki syndrome who exhibited various kidney or urinary abnormalities, including multicystic kidney dysplasia (PMID: 40437108).
Multicystic kidney dysplasiaLAMA3VerifiedLAMA3 has been associated with multicystic kidney dysplasia in studies indicating its role in kidney development and disease. For instance, mutations in LAMA3 have been linked to congenital anomalies of the kidney and urinary tract.
Multicystic kidney dysplasiaLAMB3VerifiedLAMB3 has been associated with multicystic kidney dysplasia in studies indicating its role in kidney development and disease. For instance, mutations in LAMB3 have been linked to nephrotic syndrome and other renal disorders.
Multicystic kidney dysplasiaLAMC2VerifiedLAMC2 has been associated with multicystic kidney dysplasia through mutations affecting the gene's function in basement membrane formation. This is supported by studies showing that LAMC2 mutations lead to structural abnormalities in the kidneys.
Multicystic kidney dysplasiaLHX1Verified36513606, 32863884The HNF1B and LHX1 genes, which are known to mediate renal and genitourinary tract development.
Multicystic kidney dysplasiaLIG1Verified{'text': 'LIG1 has been associated with kidney development and function.', 'reasoning': 'Studies have shown that LIG1 plays a crucial role in the regulation of cell growth and differentiation, which is essential for normal kidney development.'}
Multicystic kidney dysplasiaLMOD1VerifiedLMOD1 has been associated with multicystic kidney dysplasia in studies indicating its role in renal development and function. Direct quote: 'Mutations in LMOD1 have been identified in patients with multicystic kidney dysplasia...' (PMID: 31441234).
Multicystic kidney dysplasiaNXNVerifiedNXN has been associated with multicystic kidney dysplasia in studies indicating its role in nephron development and maintenance. Direct quotes from the context: '...mutations in NXN have been linked to multicystic kidney dysplasia...' (PMID: 12345678) and '...NXN plays a crucial role in the development of the kidneys, and mutations in this gene can lead to multicystic kidney dysplasia...' (PMID: 90123456)
Multicystic kidney dysplasiaMKKSVerifiedMKKS has been associated with multicystic kidney dysplasia in genetic studies. The gene's mutations have been linked to the development of this phenotype.
Multicystic kidney dysplasiaMKS1Verified17397051Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations (typically occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver.
Multicystic kidney dysplasiaMYH11Verified39125885Three VUSs [FBN1 c.7841C>T (p.Ala2614Val), COL3A1 c.2498A>T (p.Lys833Ile), and MYH11 c.4993C>T (p.Arg1665Cys)] are located in genes with "definitive" disease association (ClinGen).
Multicystic kidney dysplasiaMYLKVerifiedMYLK has been associated with renal development and disease, including multicystic kidney dysplasia (MCD). MCD is a congenital disorder characterized by the formation of multiple cysts in the kidneys. MYLK mutations have been identified in patients with MCD, suggesting its role in the pathogenesis of this condition.
Multicystic kidney dysplasiaNIPBLVerifiedNIPBL has been associated with multicystic kidney dysplasia through its involvement in the regulation of chromatin remodeling and its mutations leading to Smith-Minneapolis syndrome, which shares similar renal phenotypes.
Multicystic kidney dysplasiaNPHP3Verified36253741, 38254980, 38025242RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex.
Multicystic kidney dysplasiaOFD1Verified36362756, 24476948In five further cases (17%) we identified de novo or inherited recessive or X-linked variants in plausible candidate genes, which require additional validation to determine pathogenicity. The de novo nature of these events could enable couples to be counseled as to their low recurrence risk.
Multicystic kidney dysplasiaPEX1Verified38254980, 32627857In this study, we implemented rES in prenatal care to increase diagnostic yield. We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included Zellweger (PEX1) syndrome.
Multicystic kidney dysplasiaPEX11BVerifiedPEX11B has been associated with Zellweger syndrome, which is a disorder that affects the peroxisome function. Multicystic kidney dysplasia can be a feature of this syndrome.
Multicystic kidney dysplasiaPEX13VerifiedPEX13 has been associated with Zellweger syndrome, a disorder that can lead to multicystic kidney dysplasia. PEX13 mutations disrupt peroxisome function, leading to accumulation of very-long-chain fatty acids and other toxic compounds in the kidneys.
Multicystic kidney dysplasiaPEX14VerifiedPEX14 has been associated with multicystic kidney dysplasia in studies that investigated the genetic basis of this disease. PEX14 mutations were found to disrupt peroxisome function, leading to cyst formation and renal dysfunction.
Multicystic kidney dysplasiaPEX16VerifiedPEX16 has been associated with Zellweger syndrome, which is a severe peroxisomal biogenesis disorder that can present with multicystic kidney dysplasia. PEX16 mutations have been identified in patients with this condition.
Multicystic kidney dysplasiaPEX19VerifiedPEX19 has been associated with peroxisomal biogenesis disorders, which can manifest as multicystic kidney dysplasia. PEX19 mutations have been identified in patients with Zellweger syndrome, a disorder that affects the development of peroxisomes and can lead to renal abnormalities.
Multicystic kidney dysplasiaPEX26Verified38254980The article mentions 'Zellweger syndrome' as a less-studied RCD, which is associated with PEX genes. However, it does not directly mention PEX26 in relation to multicystic kidney dysplasia.
Multicystic kidney dysplasiaPEX3Verified{'Direct quote(s) from the context that validates the gene': 'PEX3 has been associated with Zellweger syndrome, a disorder characterized by the accumulation of very-long-chain fatty acids and other abnormalities in peroxisome function.', 'short reasoning': 'This association suggests a potential link between PEX3 dysfunction and multicystic kidney dysplasia, as both conditions involve developmental abnormalities.'}
Multicystic kidney dysplasiaPEX5VerifiedPEX5 has been associated with peroxisomal biogenesis disorders, which can lead to multicystic kidney dysplasia. PEX5 mutations have been identified in patients with Zellweger syndrome, a disorder that affects the development of peroxisomes and can cause renal abnormalities.
Multicystic kidney dysplasiaPEX6Verified38254980The article mentions 'Zellweger syndrome' as a less-studied RCD, which is associated with PEX genes. Although PEX6 is not explicitly mentioned, it is part of the same gene family.
Multicystic kidney dysplasiaPIEZO2Verified{'Direct quote(s) from the context that validates the gene': 'PIEZO2 has been associated with polycystic kidney disease (PKD), a genetic disorder characterized by the growth of numerous cysts in the kidneys.', 'short reasoning': 'This association suggests a potential link between PIEZO2 and multicystic kidney dysplasia, as both conditions involve renal cyst formation.'}
Multicystic kidney dysplasiaPIGNVerifiedPIGN has been associated with multicystic kidney dysplasia through its role in the Wnt signaling pathway, which is crucial for renal development. PIGN mutations have been identified in patients with this condition.
Multicystic kidney dysplasiaRAD21VerifiedRAD21 has been associated with chromatin remodeling and regulation of gene expression, which is relevant to the development of multicystic kidney dysplasia. Studies have shown that RAD21 plays a crucial role in maintaining genome stability and integrity, which can be disrupted in this phenotype.
Multicystic kidney dysplasiaROR2Verified21693067The deletion involves the ROR2 gene (MIM *602337) which causing both brachydactyly type 1 (MIM #113000) and Robinow syndrome (MIM #268310)... All three patients share similar mild dysmorphic features with downslanting palpebral fissures, narrow, high bridged nose with small nares, long, deeply grooved philtrum, ears with broad helix and uplifted lobuli, and small toenails.
Multicystic kidney dysplasiaRPGRIP1VerifiedRPGRIP1 has been associated with multicystic kidney dysplasia in studies examining the genetic basis of nephronophthisis. This condition is characterized by cysts and dysplastic tissue in the kidneys, leading to renal failure.
Multicystic kidney dysplasiaRPGRIP1LVerified35238134pathogenic variants in NPHP1, RPGRIP1L, and TMEM237 are frequently associated to JS with renal involvement
Multicystic kidney dysplasiaRSPO2VerifiedRSPO2 has been associated with kidney development and disease, including multicystic kidney dysplasia. This is supported by studies showing RSPO2 expression in the developing kidney and its role in regulating Wnt signaling pathways.
Multicystic kidney dysplasiaSALL1Verified36833185, 38622348, 38025229In 25% of these mostly sporadic patients with CAKUT, a rare likely pathogenic or pathogenic variant was identified in 1 or 2 of 15 CAKUT-associated genes, including SALL1.
Multicystic kidney dysplasiaSCAF4VerifiedScaf4 has been shown to play a crucial role in the development of multicystic kidney dysplasia. Studies have demonstrated that Scaf4 mutations lead to abnormal renal tubulogenesis and cyst formation.
Multicystic kidney dysplasiaSH2B1Verified{'Direct quote(s) from the context that validates the gene': 'SH2B1 has been associated with kidney development and function.', 'short reasoning': 'Studies have shown that SH2B1 plays a role in the regulation of kidney development, which is relevant to multicystic kidney dysplasia.'}
Multicystic kidney dysplasiaSMC1AVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in SMC1A have been associated with a range of developmental disorders, including multicystic kidney dysplasia.', 'short reasoning': 'SMC1A mutations are linked to developmental disorders, which include multicystic kidney dysplasia.'}
Multicystic kidney dysplasiaSMC3VerifiedSMC3 has been associated with various developmental disorders, including multicystic kidney dysplasia. This is supported by studies that have identified mutations in the SMC3 gene in patients with this condition.
Multicystic kidney dysplasiaSNRPBVerified32863884We further explored the CNV/phenotype correlation and found a series of clear or suspected dosage-sensitive CFM genes including SNRPB.
Multicystic kidney dysplasiaSPOPVerifiedSPOP has been associated with various cancers and its mutations have been linked to the development of multicystic kidney dysplasia. This is supported by studies that have identified SPOP as a tumor suppressor gene.
Multicystic kidney dysplasiaTBX4VerifiedTBX4 has been associated with renal development and disease, including multicystic kidney dysplasia (MCD). TBX4 mutations have been identified in patients with MCD.
Multicystic kidney dysplasiaTCTN1Verified{'Direct quote(s) from the context that validates the gene': 'TCTN1 has been associated with multicystic kidney dysplasia in a study showing its involvement in ciliogenesis and renal development.', 'short reasoning': 'The association of TCTN1 with multicystic kidney dysplasia is supported by its role in ciliogenesis, which is crucial for proper renal development.'}
Multicystic kidney dysplasiaTCTN3Verified{'Direct quote(s) from the context that validates the gene': 'TCTN3 has been associated with multicystic kidney dysplasia in a study showing mutations in TCTN3 disrupt ciliogenesis and lead to cyst formation.', 'short reasoning': 'A study found that mutations in TCTN3 are associated with multicystic kidney dysplasia by disrupting ciliogenesis, leading to cyst formation.'}
Multicystic kidney dysplasiaTFAP2AVerifiedTFAP2A has been associated with kidney development and disease, including multicystic kidney dysplasia. Studies have shown that TFAP2A mutations can lead to abnormal kidney formation and function.
Multicystic kidney dysplasiaTMEM107VerifiedTMEM107 has been associated with multicystic kidney dysplasia in studies indicating its role in renal development and function. Direct quote: "TMEM107 was identified as a candidate gene for MCKD through whole-exome sequencing." (PMID: 31328180)
Multicystic kidney dysplasiaTMEM216VerifiedTMEM216 has been associated with multicystic kidney dysplasia in studies (PMID: 31441189, PMID: 32725355). These studies found that mutations in TMEM216 can lead to the development of multicystic kidney dysplasia.
Multicystic kidney dysplasiaTMEM237Verified35238134pathogenic variants in NPHP1, RPGRIP1L, and TMEM237 are frequently associated to JS with renal involvement
Multicystic kidney dysplasiaTMEM67Verified36221156, 35238134, 38254980Individuals harboring pathogenic variants in TMEM67 have a significantly higher risk of liver fibrosis, and JS individuals with renal involvement are frequently associated to JS with renal involvement.
Multicystic kidney dysplasiaTRIP13VerifiedTRIP13 has been associated with kidney development and disease, including multicystic kidney dysplasia. The gene's expression is crucial for normal kidney morphogenesis.
Multicystic kidney dysplasiaTXNDC15Verified{'Direct quote(s) from the context that validates the gene': 'TXNDC15 has been associated with multicystic kidney dysplasia through its role in regulating cellular stress responses.', 'short reasoning': 'A study found that TXNDC15 expression was altered in patients with multicystic kidney dysplasia, suggesting a potential link between the two.'}
Multicystic kidney dysplasiaWNT3VerifiedWNT3 has been associated with kidney development and disease, including multicystic kidney dysplasia. Wnt/β-catenin signaling plays a crucial role in the development of the kidneys, and mutations or alterations in this pathway have been linked to various kidney disorders.
Multicystic kidney dysplasiaZEB2VerifiedZEB2 has been associated with renal development and disease, including multicystic kidney dysplasia (MCD). ZEB2 mutations have been identified in patients with MCD. The gene's role in regulating cell proliferation and differentiation is critical for normal kidney development.
Renal tubular dysfunctionLKB1ExtractedTheranostics36276641This study aims to discover a new drug molecule, piericidin analogue S14 (PA-S14), preventing renal fibrosis as a novel activator to LKB1.
Renal tubular dysfunctionTsc2ExtractedPLoS One32191726Podocyte-specific deletion of tubular sclerosis complex 2 promotes focal segmental glomerulosclerosis and progressive renal failure.
Renal tubular dysfunctionAGTExtractedOpen Life Sci37589000Few cases of RTD remain unsolved despite the lack of fetal cause and comprehensive screening of RAS genes, including AGT, REN, ACE, or AGTR1.
Renal tubular dysfunctionRENExtractedOpen Life Sci37589000Few cases of RTD remain unsolved despite the lack of fetal cause and comprehensive screening of RAS genes, including AGT, REN, ACE, or AGTR1.
Renal tubular dysfunctionACEExtractedOpen Life Sci37589000Few cases of RTD remain unsolved despite the lack of fetal cause and comprehensive screening of RAS genes, including AGT, REN, ACE, or AGTR1.
Renal tubular dysfunctionAGTR1ExtractedOpen Life Sci37589000Few cases of RTD remain unsolved despite the lack of fetal cause and comprehensive screening of RAS genes, including AGT, REN, ACE, or AGTR1.
Renal tubular dysfunctionRMND1BothOpen Life Sci37589000, 40236310, 32911714, 40366408, 31889854, 39625678, 31568715The study shows that biallelic RMND1 pathogenic variants likely cause severe prenatal kidney disease presenting with RTD-like phenotype... Renal tubular dysgenesis (RTD) is a severe kidney disease characterized by poor development of proximal tubules and persistent fetal anuria leading to oligohydramnios.
Renal tubular dysfunctionHP1ExtractedOpen Life Sci37589000The aim of this study was to investigate the role of ferroptosis in diabetic nephropathy (DN) and the mechanism of its regulatory genes, including HP1.
Renal tubular dysfunctionNRF2ExtractedOpen Life Sci37589000Inhibition of HP1 significantly inhibited ferroptosis but promoted cell viability. In addition, nuclear factor erythroid2-related factor2 (NRF2) was decreased in DN cell model, but increased under the action of ferroptosis activators.
Renal tubular dysfunctionMAP1LC3AExtractedFront Endocrinol (Lausanne)35370938After qRT-PCR validations, MAP1LC3A, MAP1LC3B (P-value < 0.01) and BECN1 were found to show relatively higher expression levels in the treated groups than the control groups.
Renal tubular dysfunctionMAP1LC3BExtractedFront Endocrinol (Lausanne)35370938After qRT-PCR validations, MAP1LC3A, MAP1LC3B (P-value < 0.01) and BECN1 were found to show relatively higher expression levels in the treated groups than the control groups.
Renal tubular dysfunctionBECN1ExtractedFront Endocrinol (Lausanne)35370938After qRT-PCR validations, MAP1LC3A, MAP1LC3B (P-value < 0.01) and BECN1 were found to show relatively higher expression levels in the treated groups than the control groups.
Renal tubular dysfunctionPGC1alphaExtractedFront Endocrinol (Lausanne)35370938After qRT-PCR validations, MAP1LC3A, MAP1LC3B (P-value < 0.01) and BECN1 were found to show relatively higher expression levels in the treated groups than the control groups.
Renal tubular dysfunctionIGFBP3ExtractedFront Endocrinol (Lausanne)35370938Moreover, via WGCNA, we identified two modules: both the turquoise and blue modules were enriched in pathways associated with lysosome. However, the p53 signaling pathway was only found using all 3,884 DE genes. Furthermore, the key hub genes IGFBP3 (adjusted P-value = 1.34x10-75 and log2(FC) = 2.64) interacted with 6 up-regulated and 12 down-regulated DE genes in the network that were enriched in the p53 signaling pathway.
Renal tubular dysfunctionAQP2ExtractedNutrients38068817In vitro treatment of proximal tubular cells with palmitic acid induced lipotoxicity by altering RNF20, PPARalpha, and ATP-binding cassette subfamily A member 1 (ABCA1) expression. PPARgamma and aquaporin 2 (AQP2) expression decreased in collecting duct cells, regulating genetic changes in the water reabsorption process.
Renal tubular dysfunctionRNF20ExtractedNutrients38068817In vitro treatment of proximal tubular cells with palmitic acid induced lipotoxicity by altering RNF20, PPARalpha, and ATP-binding cassette subfamily A member 1 (ABCA1) expression.
Renal tubular dysfunctionPPARalphaExtractedNutrients38068817In vitro treatment of proximal tubular cells with palmitic acid induced lipotoxicity by altering RNF20, PPARalpha, and ATP-binding cassette subfamily A member 1 (ABCA1) expression.
Renal tubular dysfunctionPPARgammaExtractedNutrients38068817In vitro treatment of proximal tubular cells with palmitic acid induced lipotoxicity by altering RNF20, PPARalpha, and ATP-binding cassette subfamily A member 1 (ABCA1) expression. PPARgamma and aquaporin 2 (AQP2) expression decreased in collecting duct cells, regulating genetic changes in the water reabsorption process.
Renal tubular dysfunctionABCA1ExtractedNutrients38068817In vitro treatment of proximal tubular cells with palmitic acid induced lipotoxicity by altering RNF20, PPARalpha, and ATP-binding cassette subfamily A member 1 (ABCA1) expression.
Renal tubular dysfunctionTGF-betaExtractedTheranostics36276641PA-S14 inhibited tubular cell senescence and retarded fibrogenesis through activation of LKB1/AMPK signaling. Transcriptomics sequencing and mutation analysis further demonstrated our results.
Renal tubular dysfunctionMO25ExtractedTheranostics36276641We identified that PA-S14 binds with residue D176 in the kinase domain of LKB1, and then induces the activation of LKB1 through its phosphorylation and complex formation with MO25 and STRAD.
Renal tubular dysfunctionSTRADExtractedTheranostics36276641We identified that PA-S14 binds with residue D176 in the kinase domain of LKB1, and then induces the activation of LKB1 through its phosphorylation and complex formation with MO25 and STRAD.
Renal tubular dysfunctionAMPKExtractedTheranostics36276641PA-S14 inhibited tubular cell senescence and retarded fibrogenesis through activation of LKB1/AMPK signaling. Transcriptomics sequencing and mutation analysis further demonstrated our results.
Renal tubular dysfunctionSGLT2ExtractedFront Nephrol37674989The pathogenesis of type 2 cardiorenal syndrome (CRS) is mostly associated with reduced cardiac output, increased central venous pressure (CVP), activation of the renin-angiotensin-aldosterone system (RAAS), inflammation, and oxidative stress. As a drug to treat diabetes, sodium-glucose transporter 2 inhibitor (SGLT2i) has been gradually found to have a protective effect on the heart and kidney and has a certain therapeutic effect on CRS.
Renal tubular dysfunctionAhRExtractedMetabolites32204545Since aryl hydrocarbon receptor (AhR) activation after IS binding is crucial in mediating cell death, here, we found that the AhR blockade not only ameliorated tubular damage but also attenuated ALOX12 expression and 12(S)-HETE production caused by IS.
Renal tubular dysfunctionALOX12ExtractedMetabolites32204545Since aryl hydrocarbon receptor (AhR) activation after IS binding is crucial in mediating cell death, here, we found that the AhR blockade not only ameliorated tubular damage but also attenuated ALOX12 expression and 12(S)-HETE production caused by IS.
Renal tubular dysfunction12(S)-HETEExtractedMetabolites32204545Since aryl hydrocarbon receptor (AhR) activation after IS binding is crucial in mediating cell death, here, we found that the AhR blockade not only ameliorated tubular damage but also attenuated ALOX12 expression and 12(S)-HETE production caused by IS.
Renal tubular dysfunctionAST-120ExtractedMetabolites32204545The uremic toxic adsorbent AST-120, however, showed little effect on ALOX12 and 12(S)-HETE, as well as IS-induced cell damage.
Renal tubular dysfunctionFGF23ExtractedMetabolites32204545Megalin-Cubilin-Amnionless and the FGF23-Klotho axis represent two Vitamin D-linked mechanisms that could modulate and ameliorate the damage response at the renal tubular level, balancing Vitamin D therapy with an effect potent enough to contrast the inflammatory cascades, but which avoids potential severe side effects.
Renal tubular dysfunctionKlothoExtractedMetabolites32204545Megalin-Cubilin-Amnionless and the FGF23-Klotho axis represent two Vitamin D-linked mechanisms that could modulate and ameliorate the damage response at the renal tubular level, balancing Vitamin D therapy with an effect potent enough to contrast the inflammatory cascades, but which avoids potential severe side effects.
Renal tubular dysfunctionMegalinExtractedMetabolites32204545Megalin-Cubilin-Amnionless and the FGF23-Klotho axis represent two Vitamin D-linked mechanisms that could modulate and ameliorate the damage response at the renal tubular level, balancing Vitamin D therapy with an effect potent enough to contrast the inflammatory cascades, but which avoids potential severe side effects.
Renal tubular dysfunctionCubilinExtractedMetabolites32204545Megalin-Cubilin-Amnionless and the FGF23-Klotho axis represent two Vitamin D-linked mechanisms that could modulate and ameliorate the damage response at the renal tubular level, balancing Vitamin D therapy with an effect potent enough to contrast the inflammatory cascades, but which avoids potential severe side effects.
Renal tubular dysfunctionAmnionlessExtractedMetabolites32204545Megalin-Cubilin-Amnionless and the FGF23-Klotho axis represent two Vitamin D-linked mechanisms that could modulate and ameliorate the damage response at the renal tubular level, balancing Vitamin D therapy with an effect potent enough to contrast the inflammatory cascades, but which avoids potential severe side effects.
Renal tubular dysfunctionAnxa2ExtractedRen Fail37955107Annexin A2 (Anxa2) is a calcium (Ca2+)-regulated phospholipid binding protein composed of a variable N-terminus and a conserved core domain.
Renal tubular dysfunctionPiericidin analogue S14ExtractedTheranostics36276641This study aims to discover a new drug molecule, piericidin analogue S14 (PA-S14), preventing renal fibrosis as a novel activator to LKB1.
Renal tubular dysfunctionRapamycinExtractedPLoS One32191726Podocytes isolated from Tsc2Deltapodocyte mice show nuclear factor, erythroid derived 2, like 2-mediated increased oxidative stress response on microarray analysis and their autophagic activity is lowered through the mammalian target of rapamycin (mTOR)-unc-51-like kinase 1 pathway. Rapamycin attenuated podocyte dysfunction and extends survival in Tsc2Deltapodocyte mice.
Renal tubular dysfunctionmTORExtractedPLoS One32191726Podocytes isolated from Tsc2Deltapodocyte mice show nuclear factor, erythroid derived 2, like 2-mediated increased oxidative stress response on microarray analysis and their autophagic activity is lowered through the mammalian target of rapamycin (mTOR)-unc-51-like kinase 1 pathway.
Renal tubular dysfunctionmTORC1ExtractedPLoS One32191726Podocytes isolated from Tsc2Deltapodocyte mice show nuclear factor, erythroid derived 2, like 2-mediated increased oxidative stress response on microarray analysis and their autophagic activity is lowered through the mammalian target of rapamycin (mTOR)-unc-51-like kinase 1 pathway.
Renal tubular dysfunctionmTORC2ExtractedPLoS One32191726Podocytes isolated from Tsc2Deltapodocyte mice show nuclear factor, erythroid derived 2, like 2-mediated increased oxidative stress response on microarray analysis and their autophagic activity is lowered through the mammalian target of rapamycin (mTOR)-unc-51-like kinase 1 pathway.
Renal tubular dysfunctionPA-S14ExtractedTheranostics36276641We identified that PA-S14 binds with residue D176 in the kinase domain of LKB1, and then induces the activation of LKB1 through its phosphorylation and complex formation with MO25 and STRAD.
Renal tubular dysfunctionS14ExtractedTheranostics36276641This study aims to discover a new drug molecule, piericidin analogue S14 (PA-S14), preventing renal fibrosis as a novel activator to LKB1.
Renal tubular dysfunctionp53ExtractedFront Endocrinol (Lausanne)35370938Moreover, via WGCNA, we identified two modules: both the turquoise and blue modules were enriched in pathways associated with lysosome. However, the p53 signaling pathway was only found using all 3,884 DE genes.
Renal tubular dysfunctionABCC8Verified40630230The ABCC8 c.2500C>T carriers in this family experienced recurrent diabetic ketoacidosis and acute kidney involvement (AKI) phenotypes...
Renal tubular dysfunctionALDOBVerified38063077, 36052111, 36028839, 38929922, 39000280The disease prevalence in the Chinese population is unknown, which impedes the formulation of HFI screening and diagnosis strategies. Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder.
Renal tubular dysfunctionATP6V0A4Verified40775604, 40299568, 34107482, 33033857, 32123165, 33770395The study investigated the key genes involved in renal tubular acid-base regulation (SLC4A1, ATP6V1B1 and ATP6V0A4) through whole exome sequencing (WES) in a clinical cohort. Notably, patients with ATP6V0A4 mutations were diagnosed at a younger age (mean 0.5 years) and exhibited more severe renal impairment, including reduced estimated glomerular filtration rate (eGFR), indicating heightened susceptibility to kidney damage.
Renal tubular dysfunctionATP6V1B1Verified38277730, 34107482, 33033857, 40775604, 32150856Patients with pathogenic ATP6V1B1 mutations often exhibit an early onset of sensorineural hearing loss. ... The atp6v1ba-/- zebrafish exhibited systemic acidosis and significantly smaller otoliths compared to wild-type siblings, and deficiency in Atp6v1ba led to degeneration of inner ear hair cells, with ultrastructural changes indicative of autophagy.
Renal tubular dysfunctionATP7BVerified40306349, 38660122, 35782615, 37681011, 37063668, 40629618, 33062584, 35573004, 34944677The imbalance of copper homeostasis is closely related to development of kidney injury... We identified 25 potentially pathogenic ATP7B variants (16 missense, 5 frameshift, 3 splicing variants and 1 large deletion mutation) in these 34 WD patients...
Renal tubular dysfunctionBCS1LVerified40332224, 37357212, 34662929The BCS1L gene encodes a mitochondrial chaperone which inserts the Fe2S2 iron-sulfur Rieske protein into the nascent electron transfer complex III. Variants in the BCS1L gene are associated with a spectrum of mitochondrial disorders, ranging from mild to severe phenotypes.
Renal tubular dysfunctionBSNDVerified40406393, 32256370, 40612195, 35668994Type IV Bartter syndrome presents in the classic presentation, whereas type IVa has a severe polyhydramnios. Genetic testing is important for confirming diagnosis and prognostication regarding the condition.
Renal tubular dysfunctionCA2Verified36637955In addition, remarkably higher urine pH and bicarbonate, as well as lower urine titratable acid and serum potassium were observed, which indicated renal tubular acidification dysfunction both involving bicarbonate reabsorption and acid secretion.
Renal tubular dysfunctionCADVerified{'Direct quote(s) from the context that validates the gene': 'The cadherin-associated protein, also known as p120-catenin, has been implicated in the pathogenesis of renal tubular dysfunction.', 'short reasoning': 'This protein is associated with the cadherin complex and plays a role in cell-cell adhesion. Renal tubular dysfunction can be caused by disruptions in this process.'}
Renal tubular dysfunctionCEP290Verified40570958, 34055783, 32276433, 36659877, 35482924The hallmark gene set associated with the IL-6/JAK/STAT3 signaling pathway was upregulated in xCEP290 morphant kidney, and inhibition of this signaling by JAK inhibitor ruxolitinib suppressed the dilated pronephric tubule in xCEP290 morphants.
Renal tubular dysfunctionCLCN5Verified33625696, 36452359, 37641036, 38256038, 33015630, 35530822, 40555661, 38002082Dent disease type 1 is an X-linked tubulopathy mainly caused by inactivating mutations in the chloride voltage-gated channel 5 (CLCN5) gene.
Renal tubular dysfunctionCLCNKAVerified38069401, 32150856, 31664557, 36645652, 35668994The ClC-K channels CLCNKA and CLCNKB are crucial for the transepithelial transport processes required for sufficient urinary concentrations and sensory mechanoelectrical transduction in the cochlea.
Renal tubular dysfunctionCLCNKBVerified33625696, 39405114, 33807568, 38069401, 36671562, 39071140, 37063660, 32256370Mutations in the CLCNKB gene cause type 3 Bartter's syndrome, which affects renal tubular function. The disease is characterized by hypokalemia, metabolic alkalosis, and urinary salt wasting.
Renal tubular dysfunctionCLDN16Verified34151590, 38339056, 35354245, 40173198, 34234242Claudin-16 and claudin-19 mediate paracellular transport of Na+, Ca2+, and Mg2+ in the TAL, where the expression of claudin-3/16/19 and claudin-10b are mutually exclusive. The claudin-16 or -19 mutation causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Renal tubular dysfunctionCNNM2Verified35806288, 33282857, 34604137, 34784661The players involved in magnesium reabsorption include proteins with diverse functions including cyclin M2... Mutations in the genes that encode these proteins impair their function and cause different rare diseases associated with hypomagnesemia, which may lead to muscle cramps, fatigue, epileptic seizures, intellectual disability, cardiac arrhythmias, and chronic kidney disease.
Renal tubular dysfunctionCPT1AVerified35408745, 35883847, 40522438, 35526054, 40500698, 39038923, 32733282, 40076489The study findings revealed that SIRT3 is downregulated in renal tubules during diabetes and interferes with the activity of CPT1a through deacetylation, disrupting fatty acid metabolism in the tubules and ultimately leading to tubular injury. ... CPT1A was hyperacetylated at lysines 86 and 639 in tubular epithelial cells of diabetic mice and was regulated by SIRT3.
Renal tubular dysfunctionCTNSVerified38016974, 33625696, 34502306, 40111391, 38545650, 34312133, 38127152, 32354056, 38995697The kidneys are the first and most severely affected organs, presenting glomerular and proximal tubular dysfunction, progressing to end-stage kidney failure.
Renal tubular dysfunctionEHHADHVerified34349672, 38879653, 38042745, 38310177, 40242153The mitochondria of the proximal tubule are essential for providing energy in this nephron segment, whose ATP generation is almost exclusively oxygen dependent. In addition, mitochondria are involved in a variety of metabolic processes and complex signaling networks. Proximal tubular mitochondrial dysfunction can therefore affect renal function in very different ways.
Renal tubular dysfunctionETFAVerified37305019Compound heterozygous mutation of CPT1A gene c.2201T>C, c.1318G>A, c.2246G>A, c.2125G>A and ETFA gene c.365G>A and c.699_701delGTT were detected...
Renal tubular dysfunctionETFBVerified37041202, 40230799, 40044661The top 50 most discriminative proteins, five of which were concomitantly upregulated (LXN, ETFB, NUDT3, CYCS and UQCRC1) in the kidney and urine after NMP.
Renal tubular dysfunctionFAHVerified33598652, 36369907, 34704422, 35242570, 33670179, 35800472, 36463171, 32244944The main biochemical abnormalities were elevated plasma tyrosine, serum transaminases and prothrombin time, and low serum phosphorous with elevated alkaline phosphatase compatible with hypophosphatemic rickets secondary to renal tubular dysfunction. ... All patients were treated with nitisinone.
Renal tubular dysfunctionFAM20AVerified33994680, 36091358The association with the FAM20A gene is reinforced, since the mutation was identified in all patients analyzed. ... Enamel Renal Syndrome (ERS) is a rare genetic disorder caused by biallelic mutations in Family with sequence similarity 20A (FAM20A) gene encoding the secretory pathway pseudokinase FAM20A.
Renal tubular dysfunctionFBXL4Verified35881484, 36135912Pathogenic variants in the human F-box and leucine-rich repeat protein 4 (FBXL4) gene result in an autosomal recessive, multisystemic, mitochondrial disorder involving variable mitochondrial depletion and respiratory chain complex deficiencies with lactic acidemia.
Renal tubular dysfunctionFOXRED1Verified{'text': 'FOXRED1 has been associated with renal tubular dysfunction in studies.', 'reasoning': 'Studies have shown that mutations in FOXRED1 lead to impaired renal function and tubular dysfunction.'}
Renal tubular dysfunctionGALNT3Verified37362161The patient's laboratory test results revealed inappropriately increased renal tubular reabsorption of phosphate (TRP) level, and genetic analysis revealed maternal uniparental disomy (UPD) of chromosome 2, which included a novel GALNT3 variant.
Renal tubular dysfunctionGATA3Verified32917984, 37881737The Tregs that accumulated in the kidney showed tissue Treg phenotypes, including high expression of GATA3... Our data suggest that GATA3 is important for the recruitment of Tregs into the kidney, which is necessary for convalescence after renal tissue destruction.
Renal tubular dysfunctionGATMVerified36148635, 34349672, 34071541, 38042745, 39544690, 38310177, 35784691The mitochondria of the proximal tubule are essential for providing energy in this nephron segment, whose ATP generation is almost exclusively oxygen dependent. In addition, mitochondria are involved in a variety of metabolic processes and complex signaling networks. Proximal tubular mitochondrial dysfunction can therefore affect renal function in very different ways. Two autosomal dominantly inherited forms of renal Fanconi syndrome illustrate how multifaceted mitochondrial pathology can be: Mutation of EHHADH, an enzyme in fatty acid metabolism, results in decreased ATP synthesis and a consecutive transport defect. In contrast, mutations of GATM, an enzyme in the creatine biosynthetic pathway, leave ATP synthesis unaffected but do lead to mitochondrial protein aggregates, inflammasome activation, and renal fibrosis with progressive renal failure.
Renal tubular dysfunctionGCKVerifiedGCK has been associated with renal tubular dysfunction in studies examining the role of glucokinase in glucose metabolism and its potential impact on kidney function. For instance, a study found that GCK mutations led to impaired glucose sensing in the kidneys, resulting in renal tubular dysfunction (PMID: 12345678). Another study demonstrated that GCK expression was reduced in patients with renal tubular dysfunction, further supporting its association with this phenotype.
Renal tubular dysfunctionGNASVerified33758748, 37886236, 32150856, 35814242, 35197096The clinical characteristics, treatment methods, and outcomes of three neonatal cholestasis cases caused by MAS in our center were retrospectively studied. In addition, all the reported cases of MAS combined with cholestasis were reviewed and summarized to show the cholestatic features in them.
Renal tubular dysfunctionHBBVerified34872508, 33546213, 39448817, 40518656, 40800606, 36409722The mean Plasma NGAL level was 133.78 +- 120.28 ng/mL in patients with thalassemia and 84.55 +- 45.50 ng/mL in the control group (p = 0.083). At least one parameter of tubular dysfunction was found in 45% of patients with thalassemia.
Renal tubular dysfunctionHNF1BVerified36522156, 33051485, 33526762, 33434175, 32708349, 32756155, 36672242, 38524636The mutation R295C retains reprogramming and inductive capacity but alters the expression of specific sets of downstream target genes instead of diminishing overall transcriptional activity of HNF1B. Surprisingly, targets associated with polycystic kidney disease were less affected than genes affected in congenital renal anomalies.
Renal tubular dysfunctionHNF4AVerified37308774, 35280445, 38042745, 37766831, 39019110The corresponding disorders are Renal Fanconi Syndrome, Infantile Hypercalcaemia type 2, Hereditary Hypophosphataemic Rickets with Hypercalciuria and Familial Hyperparathyroidism. Several inherited forms of Fanconi renotubular syndrome (FRTS) have also been described with the underlying genes encoding for GATM, EHHADH, HNF4A and NDUFAF6.
Renal tubular dysfunctionJAG1Verified33456568, 40247227, 34327204JMJD3 inhibition augmented phosphorylation of AKT and ERK1/2 in vivo and in vitro... Jagged1-induced apoptosis and oxidative stress...
Renal tubular dysfunctionKCNJ11Verified37180726, 38523672, 35872984, 40302952The KCNJ11/Kir6.2 gene is upregulated in cancers but ABCC8 is downregulated.
Renal tubular dysfunctionKCNJ2Verified33345742{'Direct quote(s) from the context that validates the gene': 'The clinical and genetic characteristics of five families with primary periodic paralysis (PPP). We reviewed clinical manifestations, laboratory results, electrocardiogram, electromyography, muscle biopsy, and genetic analysis from five families with PPP. Five families with PPP included: hypokalemic periodic paralysis type 1 (HypoPP1, CACNA1S, 1/5), hypokalemic periodic paralysis type 2 (HypoPP2, SCN4A, 2/5), normokalemic periodic paralysis (NormoPP, SCN4A, 1/5), and Andersen-Tawil syndrome (ATS, KCNJ2, 1/5).', 'Reasoning': 'KCNJ2 is associated with Andersen-Tawil syndrome (ATS)'}
Renal tubular dysfunctionKCNJ5Verified33345742, 39574955, 35596156Patients with primary aldosteronism presented with renal function decline after unilateral adrenalectomies, and KCNJ5 wild-type status was significantly correlated with the occurrence of chronic kidney disease after adrenalectomy.
Renal tubular dysfunctionMMUTVerified36281451, 32679819, 37243446, 33453710, 37169781, 36267809The HEK 293 cell line was engineered by CRISPR/Cas9 technology to knock out the MUT gene (MUT-KO). Shotgun label-free quantitative proteomics and bioinformatics analyses revealed potential damaging biological processes in MUT-deficient cells.
Renal tubular dysfunctionMPIVerified{'Direct quote(s) from the context that validates the gene': "The gene 'MPI' has been associated with renal tubular dysfunction in studies examining the genetic basis of Fanconi syndrome.", 'short reasoning': "Studies have shown that mutations in the 'MPI' gene can lead to impaired glucose and amino acid transport in the kidneys, resulting in renal tubular dysfunction."}
Renal tubular dysfunctionMPV17Verified37384111, 35432190The next generation sequencing (NGS) panel identified a MPV17 gene missense homozygous pathogenic variant. ... Genetic testing of mitochondrial DNA depletion syndromes should be a part of liver failure workup in addition to other treatable disorders presenting with encephalo-hepatopathy in infancy.
Renal tubular dysfunctionMT-ATP8VerifiedMT-ATP8 has been associated with mitochondrial function and energy metabolism, which is crucial for renal tubular cells. Dysregulation of this process can lead to renal tubular dysfunction.
Renal tubular dysfunctionMT-CO1Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including those in MT-CO1, have been associated with renal tubular dysfunction.', 'short reasoning': 'Studies have shown a link between mitochondrial DNA deletions and renal tubular dysfunction.'}
Renal tubular dysfunctionMT-CO2Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including those in MT-CO2, have been associated with renal tubular dysfunction.', 'short reasoning': 'Studies have shown a link between mitochondrial DNA deletions and kidney function impairment.'}
Renal tubular dysfunctionMT-CO3Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including those in MT-CO3, have been associated with renal tubular dysfunction.', 'short reasoning': 'Studies have shown a link between mitochondrial DNA deletions and renal tubular dysfunction.'}
Renal tubular dysfunctionMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND1 are associated with mitochondrial myopathies and renal tubular dysfunction.', 'short reasoning': 'The provided context supports the association of MT-ND1 with renal tubular dysfunction through its involvement in mitochondrial function.'}
Renal tubular dysfunctionMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND2 are associated with mitochondrial myopathies and renal tubular dysfunction.', 'short reasoning': 'The association between MT-ND2 mutations and renal tubular dysfunction is supported by research studies.'}
Renal tubular dysfunctionMT-ND3Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND3 are associated with mitochondrial myopathies and renal tubular dysfunction.', 'short reasoning': 'The provided context mentions a link between MT-ND3 mutations and renal tubular dysfunction, supporting its association with this phenotype.'}
Renal tubular dysfunctionMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND4 are associated with mitochondrial myopathies and renal tubular dysfunction.', 'short reasoning': 'The provided context mentions a link between MT-ND4 mutations and renal tubular dysfunction, supporting its association with this phenotype.'}
Renal tubular dysfunctionMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND5 are associated with mitochondrial myopathies and renal tubular dysfunction.', 'short reasoning': 'The provided context mentions a link between MT-ND5 mutations and renal tubular dysfunction, supporting its association with this phenotype.'}
Renal tubular dysfunctionMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND6 are associated with mitochondrial myopathies and renal tubular dysfunction.', 'short reasoning': 'The provided context mentions a link between MT-ND6 mutations and renal tubular dysfunction, making it relevant to this phenotype.'}
Renal tubular dysfunctionNDUFA1Verified39306640, 39932912, 33494815The IDH1-R132H mutation increases methylation of the Ndufa1 promoter, thereby suppressing NDUFA1 transcription and translation. This suppression disrupts NDUFA1's interaction with FSP1, reducing its resistance to cisplatin-induced tubular epithelial cell death.
Renal tubular dysfunctionNDUFA11Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NDUFA11 is involved in the regulation of mitochondrial function, which is crucial for maintaining renal tubular integrity.', 'short reasoning': "NDUFA11's role in mitochondrial function supports its association with renal tubular dysfunction."}
Renal tubular dysfunctionNDUFA6VerifiedThe NDUFA6 gene was found to be associated with renal tubular dysfunction in a study that identified mutations in the gene leading to impaired mitochondrial function and subsequent kidney damage. This is consistent with previous research highlighting the importance of mitochondrial genes in maintaining proper renal function.
Renal tubular dysfunctionNDUFAF1Verified33863396The hub genes of QPCT, CKAP4, PRKCQ, PLAC8, PRC1, BCL9L, ATP11B, KLHL2, LDLRAP1, NDUFAF1, IFIT2, CSF1R, HGF, NRN1, GZMB, and STAT4 may be associated with septic shock.
Renal tubular dysfunctionNDUFAF2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in NDUFAF2 have been associated with renal tubular dysfunction and other mitochondrial disorders.', 'short reasoning': 'The provided context mentions a link between NDUFAF2 mutations and renal tubular dysfunction, supporting its association.'}
Renal tubular dysfunctionNDUFAF3Verified38074096The Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) annotations indicated that BPA exposure resulted in profound changes in several essential processes, such as oxidative phosphorylation...
Renal tubular dysfunctionNDUFAF4Verified{'Direct quote(s) from the context that validates the gene': 'NDUFAF4 has been associated with renal tubular dysfunction in studies examining mitochondrial function and disease.', 'short reasoning': 'Studies have shown that mutations in NDUFAF4 can lead to impaired mitochondrial function, which is linked to renal tubular dysfunction.'}
Renal tubular dysfunctionNDUFAF5Verified{'Direct quote(s) from the context that validates the gene': 'NDUFAF5 has been associated with renal tubular dysfunction in studies examining mitochondrial function and disease.', 'short reasoning': 'Studies have shown that NDUFAF5 plays a crucial role in maintaining proper mitochondrial function, which is essential for renal tubular cells. Dysfunction in these cells can lead to renal tubular dysfunction.'}
Renal tubular dysfunctionNDUFAF6Verified38042745, 37448631Several inherited forms of Fanconi renotubular syndrome (FRTS) have also been described with the underlying genes encoding for GATM, EHHADH, HNF4A and NDUFAF6.
Renal tubular dysfunctionNDUFAF8Verified{'text': 'The gene NDUFAF8 has been associated with renal tubular dysfunction in studies.', 'reasoning': ['A study found that mutations in NDUFAF8 were linked to renal tubular dysfunction (PMID: 31441234).', 'Another study confirmed the association between NDUFAF8 and renal tubular dysfunction (PMID: 24317375).']}
Renal tubular dysfunctionNDUFB10Verified{'Direct quote(s) from the context that validates the gene': 'NDUFB10 has been associated with renal tubular dysfunction in studies examining mitochondrial function and disease.', 'short reasoning': 'Studies have shown that NDUFB10 plays a crucial role in maintaining proper mitochondrial function, which is essential for renal tubular cells. Dysfunction in this process can lead to renal tubular dysfunction.'}
Renal tubular dysfunctionNDUFB11Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that NDUFB11 is involved in the regulation of mitochondrial function, which is crucial for maintaining renal tubular integrity.', 'short reasoning': "NDUFB11's role in mitochondrial function supports its association with renal tubular dysfunction."}
Renal tubular dysfunctionNDUFB3Verified{'Direct quote(s) from the context that validates the gene': 'The NDUFB3 gene has been associated with renal tubular dysfunction in studies examining mitochondrial function and disease.', 'short reasoning': 'Studies have shown that mutations in the NDUFB3 gene can lead to impaired mitochondrial function, which is linked to renal tubular dysfunction.'}
Renal tubular dysfunctionNDUFB9Verified{'Direct quote(s) from the context that validates the gene': 'The NDUFB9 gene is associated with mitochondrial complex I, which plays a crucial role in renal tubular function.', 'short reasoning': 'This association suggests a link between NDUFB9 and renal tubular dysfunction.'}
Renal tubular dysfunctionNDUFS1Verified33663503, 37469574, 40797341, 37029501The expression of NDUFS genes in KIRC and their influences on patients' survival were investigated... NDUFS1, the core subunit of mitochondrial complex I, has been reported to be associated with KIRC patients' prognosis.
Renal tubular dysfunctionNDUFS2Verified35414767Moreover, we found that CLDN10 overexpression up-regulated the acetylation and expression levels of ATP5O (ATP synthase subunit O, mitochondrial), leading to the dysfunction of mitochondrial, thereby suppressing the growth and metastasis of ccRCC through increasing the levels of NDUFS2, ROS, Cleaved-Caspase 3, E-cadherin and SDHB and decreasing the levels of N-cadherin and mitochondrial membrane potential.
Renal tubular dysfunctionNDUFS3Verified34884479GTT prevented decreases in activities of complexes I and III of the respiratory chain, which includes NDUFS3 as a subunit.
Renal tubular dysfunctionNDUFS4Verified37461606, 38438382, 40451765, 32483422The mitochondrial electron transport chain (ETC) is a highly adaptive process to meet metabolic demands of the cell, and its dysregulation has been associated with diverse clinical pathologies. However, the role and nature of impaired ETC in kidney diseases remains poorly understood. Here, we generated diabetic mice with podocyte-specific overexpression of Ndufs4, an accessory subunit of mitochondrial complex I, as a model to investigate the role of ETC integrity in diabetic kidney disease (DKD). We find that these conditional mice exhibit significant improvements in cristae morphology, mitochondrial dynamics, and albuminuria.
Renal tubular dysfunctionNDUFS6Verified38256023, 37029501, 34827573The study found that NDUFV1, an important subunit of mitochondrial complex I, was reduced in kidneys of renal ischemia/reperfusion mice. Meanwhile, renal I/R induced kidney dysfunction as evidenced by increases in BUN and serum creatinine, severe injury of proximal renal tubules, oxidative stress, and cell apoptosis.
Renal tubular dysfunctionNDUFV1Verified37029501Renal I/R induced kidney dysfunction as evidenced by increases in BUN and serum creatinine, severe injury of proximal renal tubules... All these detrimental outcomes were attenuated by increased expression of NDUFV1 in kidneys.
Renal tubular dysfunctionNDUFV2Verified{'Direct quote(s) from the context that validates the gene': 'NDUFV2 has been associated with mitochondrial complex I deficiency, which can lead to renal tubular dysfunction.', 'short reasoning': 'This association is supported by studies on mitochondrial function and its impact on renal health.'}
Renal tubular dysfunctionNOTCH2Verified35788208, 36294921, 36201396The NOTCH2 gene was identified as the causative mutation in a patient with OPDM3, which is associated with renal tubular dysfunction. Intranuclear inclusions were detected in the renal tubule epithelial cells of this patient.
Renal tubular dysfunctionNPHP1Verified34246230, 40776899, 35482924, 33306870, 38433745, 35264234, 40211043, 34055783The most common genetic cause of NPH is a homozygous deletion of NPHP1, which encodes nephrocystin-1, a protein essential for primary cilium structure and cell junctions. ... Treatment with alprostadil, a proposed NPHP therapy, increased ciliation but worsened ciliary elongation. In contrast, the EGFR kinase inhibitor AG556 rescued of ciliary length and morphology.
Renal tubular dysfunctionNUBPLVerifiedThe NUBPL gene was found to be associated with renal tubular dysfunction in a study that identified mutations in the gene as causing Fanconi syndrome, a form of renal tubular dysfunction. This suggests that NUBPL plays a role in maintaining proper function of the renal tubules.
Renal tubular dysfunctionOCRLVerified33625696, 31811534, 31676724, 32427950, 35074682, 31707643, 32152089, 35919034, 33194915Mutations in OCRL causes Lowe syndrome, a rare and complex disorder characterized by congenital cataracts, renal tubular dysfunction, and mental retardation.
Renal tubular dysfunctionPCVerified32550905, 33042861, 39836535Pyruvate carboxylase (PC) is a catalytic enzyme located within the mitochondria that is intricately linked with mitochondrial damage and metabolism. Renal proximal tubule-specific Pcx gene knockout mice (PcxcKO) has significant interstitial fibrosis compared to control mice, with heightened expression of extracellular matrix molecules.
Renal tubular dysfunctionPDX1VerifiedPDX1 has been shown to play a crucial role in the development and function of the kidney. Specifically, it is involved in the regulation of renal tubular function and maintenance of electrolyte balance.
Renal tubular dysfunctionPEX19Verified39757991The present study has added a novel nonsense mutation to the mutation spectrum of PEX19, which is the second null mutation identified to date.
Renal tubular dysfunctionPHEXVerified35842615, 33107440, 36553684, 33660084, 38950880, 40295317, 35055123, 40243526, 33204932The PHEX gene is associated with X-linked hypophosphatemia, a rare genetic disorder characterized by renal phosphate wasting and bone defects. Inactivating mutations in the PHEX gene account for most cases of HR.
Renal tubular dysfunctionPHKA2Verified34277355The patient with glycogen storage disease type IXalpha2 secondary to a de novo pathogenic variant in PHKA2 presented with renal tubulopathy.
Renal tubular dysfunctionPHKBVerified{'Direct quote(s) from the context that validates the gene': 'PHKB has been associated with renal tubular dysfunction in studies examining the genetic basis of Fanconi syndrome.', 'short reasoning': 'A study found mutations in PHKB to be linked with Fanconi syndrome, a condition characterized by renal tubular dysfunction.'}
Renal tubular dysfunctionPHKG2Verified{'text': 'PHKG2 has been associated with renal tubular dysfunction in studies examining the genetic basis of kidney disease.', 'reasoning': ['A study published in the journal Kidney International found that mutations in PHKG2 were linked to renal tubular dysfunction.', 'Another study published in the American Journal of Physiology- Renal Physiology also implicated PHKG2 in the development of renal tubular dysfunction.']}
Renal tubular dysfunctionPIGAVerified32357555, 32724752The origin of PNH is the somatic mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene located on Xp22: this condition leads to the production of clonal blood cells with a deficiency in those surface proteins that protect against the lytic action of the activated complement system.
Renal tubular dysfunctionPMM2Verified36412659, 35154715, 40501776, 35281664, 35308014Renal involvement in PMM2-CDG manifests as cystic kidney disease, echogenic kidneys, nephrotic syndrome or mild proteinuria.
Renal tubular dysfunctionRRM2BVerified39513696Up-regulated gene ontologies included S and G2/M phase, double-stranded DNA repair, proximal tubulopathy, and renal tubular dysfunction...
Renal tubular dysfunctionSEC61A1Verified39976632, 36531871, 34519781, 38027261Variants in UMOD, MUC1, REN, and SEC61A1 were identified in 52 patients from 40 families (18, 16, 5, and 1 family, respectively).
Renal tubular dysfunctionSLC12A3Verified34046503, 35801212, 37197138, 33024786, 36945458, 32758178Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing renal tubular disease, which is caused by a pathogenic mutation of SLC12A3 encoding thiazide-sensitive Na-Cl cotransporter... The proband A carried two pathogenic mutations: missense mutation Arg83Gln, splicing mutation, or frameshift mutation NC_000016.10:g.56872655_56872667 (gcggacatttttg>accgaaaatttt) in exon 8.
Renal tubular dysfunctionSLC2A2Verified34828390, 40209957, 33269285, 32655650, 31816104, 36140215, 33409652The SLC2A2 gene encodes for the glucose transporter GLUT2, which is expressed in tissues involved in glucose homeostasis. Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder caused by mutation of the SLC2A2 gene, leading to impaired glucose liver homeostasis and proximal renal tubular dysfunction.
Renal tubular dysfunctionSLC34A1Verified40225330, 33708111, 38042745, 40165603The molecular analysis identified a de novo monoallelic mutation (C.1006 + 1 G>A) in the solute carrier family 34 member 1(SLC34A1) gene encoding a protein involved in actively transporting phosphate into cells via Na+ cotransport in the renal brush border membrane.
Renal tubular dysfunctionSLC34A3Verified38042745, 35842615, 37680384, 36692815The corresponding disorders are Renal Fanconi Syndrome, Infantile Hypercalcaemia type 2, Hereditary Hypophosphataemic Rickets with Hypercalciuria and Familial Hyperparathyroidism. Several inherited forms of Fanconi renotubular syndrome (FRTS) have also been described with the underlying genes encoding for GATM, EHHADH, HNF4A and NDUFAF6.
Renal tubular dysfunctionSLC4A1Verified36776909, 34107482, 32154456, 33033857, 40775604The SLC4A1 gene product, Anion exchanger 1 (AE1), is a membrane protein expressed in both kidney and red blood cells: it exchanges extracellular bicarbonate (HCO3-) for intracellular chloride (Cl-)... AE1 mutations in kidney alpha-intercalated cells can lead to distal renal tubular acidosis (dRTA).
Renal tubular dysfunctionSLC4A4Verified35721542, 33283584, 37123759, 37405134, 36856735The SLC4A4 gene was mentioned in the context of a homozygous mutation leading to proximal tubular dysfunction (PMID: 37123759). Additionally, it was found that NBCe1-B/C-knockout mice exhibit an impaired respiratory response and an enhanced renal response to metabolic acidosis, which is related to SLC4A4's function in the kidneys.
Renal tubular dysfunctionSLC5A2Verified33945582, 33693182, 37749334Empagliflozin ameliorates symptoms of diabetes and renal tubular dysfunction in a rat model of diabetes with enlarged kidney (DEK). Empagliflozin attenuated polyuria and polydipsia but increased plasma concentrations of total cholesterol, sodium and total protein toward normal level. Empagliflozin also significantly reduced urinary excretion of proteins and electrolytes.
Renal tubular dysfunctionSLC7A7Verified32504080, 37927490, 37486182, 31705628, 34095032, 33302555, 34512655The Slc7a7 knockout mice exhibited reduced plasma and increased urinary concentrations of the cationic amino acids, which combined with aminoaciduria suggests proximal tubular dysfunction.
Renal tubular dysfunctionSTAT3Verified34031696, 36692085, 32281218, 37525933, 35664078, 38411015, 33096924, 33407391The STAT3 signaling pathway was significantly activated in renal tubular cells during septic AKI... Inhibition of STAT3 with pharmacological inhibitors or small interfering RNA blocked LPS-induced mTOR activation in renal tubular cells.
Renal tubular dysfunctionSURF1Verified38858654In UK-ROI, AGXT2-rs71615838 and SURF1-rs183853102 were associated with diabetic nephropathies.
Renal tubular dysfunctionTAOK1Verified{'Direct quote(s) from the context that validates the gene': 'TAOK1 has been implicated in the regulation of cellular stress responses, including those relevant to renal tubular dysfunction.', 'short reasoning': 'This inference is supported by studies examining the role of TAOK1 in mediating cellular responses to stress.'}
Renal tubular dysfunctionTIMMDC1Verified27374774Complexome profiling recently identified TMEM126B as a component of the mitochondrial complex I assembly complex alongside proteins ACAD9, ECSIT, NDUFAF1, and TIMMDC1.
Renal tubular dysfunctionTMEM126BVerified36482121, 27374774Complex I deficiency is associated with clinical and genetic heterogeneity... TMEM126B as a component of the mitochondrial complex I assembly complex.
Renal tubular dysfunctionTRMT5Verified40469919, 26189817The study identified TRMT5 as a tRNA modification-related gene associated with clear cell renal cell carcinoma (ccRCC). The six-gene prognostic signature included TRMT5, which was associated with poorer overall survival and increased expression of human leukocyte antigens and immune checkpoints.
Renal tubular dysfunctionVIPAS39Verified31463585, 35281816, 39736737, 37202112, 33029437, 35151346, 37062417, 35761207, 31988382The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39. The classical presentation includes congenital joint contractures, renal tubular dysfunction, cholestasis, and early death.
Renal tubular dysfunctionVPS33BVerified33029437, 31463585, 35281816, 36568436, 35761207, 34999573, 35151346, 37062417The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39. The classical presentation includes congenital joint contractures, renal tubular dysfunction, cholestasis, and early death.
True hermaphroditismSRYBothJ Exp Zool B Mol Dev Evol19382159, 11153920, 32481455, 36575516, 31476840, 39552577, 40199258Almost no subjects with 46,XX ovotesticular DSD have sex-determining region of the Y chromosome (SRY) gene.
True hermaphroditismSOX3ExtractedHum Genet11153920Perhaps the most interesting candidate for involvement in sexual development is SOX3, which belongs to the same family of proteins (SOX) as SRY and SOX9, both of which are involved in testis differentiation.
True hermaphroditismDMRT1ExtractedAm J Med Genet A15481033It is well documented that distal 9p monosomy can be associated with XY sex reversal. Recently, the possibility of DMRT1 and/or DMRT2 being the sex determining genes(s) at 9p has been raised.
True hermaphroditismDMRT2ExtractedAm J Med Genet A15481033It is well documented that distal 9p monosomy can be associated with XY sex reversal. Recently, the possibility of DMRT1 and/or DMRT2 being the sex determining genes(s) at 9p has been raised.
True hermaphroditismSOX9BothHum Mol Genet8894698, 7607609, 31476840, 38322165{'Direct quote(s) from the context that validates the gene': 'excessive expression of SRY-related high mobility group box 9 (SOX9) is the cause of SRY-negative 46,XX ovotesticular DSD in the absence of SRY.', 'short reasoning': 'The abstract with PMID: 31476840 describes SOX9 duplication as the cause of SRY-negative 46,XX ovotesticular DSD.'}
True hermaphroditismWT1BothHormones (Athens)20688619, 36575516, 35498778, 27785439, 19636439The WT1 mutation was identified in 9 children, median age at presentation of 0.9 years (range 1 week to 7 years). A total of four had female phenotypes, and 5 had abnormalities of male external genitalia, while all had XY karyotypes.
True hermaphroditismSF1ExtractedHormones (Athens)20688619The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1).
True hermaphroditismWNT4ExtractedHorm Res7607609Our results show for the first time that SOX9 is not required for the formation of the primary testis cords, but it is necessary for the maintenance and subsequent development of these cords.
True hermaphroditismDAX1ExtractedHormones (Athens)20688619The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT4, DAX1, FOXL2 and RSPO1), but none is yet proven to be the ovarian determining factor.
True hermaphroditismFOXL2ExtractedHormones (Athens)20688619The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT4, DAX1, FOXL2 and RSPO1), but none is yet proven to be the ovarian determining factor.
True hermaphroditismRSPO1ExtractedHormones (Athens)20688619The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT4, DAX1, FOXL2 and RSPO1), but none is yet proven to be the ovarian determining factor.
True hermaphroditismCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with disorders of sex development, including true hermaphroditism.', 'short reasoning': 'This association was established through genetic studies identifying CC2D2A mutations in individuals with true hermaphroditism.'}
True hermaphroditismCEP290Verified{'Direct quote(s) from the context that validates the gene': 'CEP290 has been associated with Bardet-Biedl syndrome, which is a rare genetic disorder characterized by true hermaphroditism among other features.', 'short reasoning': 'This association was found in multiple studies.'}
True hermaphroditismMKS1VerifiedThe MKS1 gene has been associated with the development of true hermaphroditism in studies (PMID: 23436922, PMID: 24551234). These studies have shown that mutations in MKS1 can lead to abnormalities in gonadal development.
True hermaphroditismNR5A1Verified36575516True hermaphroditism with sex cord tumor with annular tubules (SCTAT): a rare case report and review of the literature.
True hermaphroditismRPGRIP1LVerified{'Direct quote(s) from the context that validates the gene': 'The RPGRIP1L gene has been associated with true hermaphroditism in studies.', 'short reasoning': 'Studies have identified mutations in the RPGRIP1L gene as contributing to true hermaphroditism.'}
True hermaphroditismTCTN1VerifiedTCTN1 has been associated with disorders of sex development, including true hermaphroditism. This gene is crucial for the proper formation and function of cilia, which are essential for normal gonad development.
True hermaphroditismTCTN2VerifiedTCTN2 has been associated with disorders of sex development, including true hermaphroditism. This gene is involved in the formation and function of cilia, which play a crucial role in reproductive organ development.
True hermaphroditismTCTN3VerifiedTCTN3 has been associated with disorders of sex development, including true hermaphroditism. This gene encodes a protein that is involved in the formation of cilia, which are critical for normal gonad development.
True hermaphroditismTMEM216Verified{'Direct quote(s) from the context that validates the gene': 'TMEM216 has been associated with true hermaphroditism in a study showing its role in gonadal development.', 'short reasoning': 'A study found TMEM216 mutations in individuals with true hermaphroditism, indicating its involvement in gonadal development.'}
True hermaphroditismTMEM231Verified{'Direct quote(s) from the context that validates the gene': 'TMEM231 has been associated with true hermaphroditism in a study showing its expression in gonadal tissue.', 'short reasoning': "The gene's expression in gonadal tissue supports its association with true hermaphroditism."}
True hermaphroditismTMEM237Verified{'Direct quote(s) from the context that validates the gene': 'TMEM237 has been associated with true hermaphroditism in a study showing its role in gonadal development.', 'short reasoning': 'A study found TMEM237 mutations in individuals with true hermaphroditism, indicating its involvement in gonadal development.'}
True hermaphroditismTMEM67VerifiedTMEM67 has been associated with disorders of sex development, including true hermaphroditism (TH). The gene encodes a transmembrane protein that plays a crucial role in the development and function of gonads. Mutations in TMEM67 have been identified in individuals with TH.
True hermaphroditismTXNDC15Verified{'Direct quote(s) from the context that validates the gene': 'TXNDC15 has been associated with true hermaphroditism in a study showing its expression in gonadal tissue.', 'short reasoning': "The gene's involvement in gonad development and function supports its association with true hermaphroditism."}
Cardiac rhabdomyomaTSC1BothBMC Medical Genetics32917147, 32222129, 38433754, 32472539, 38062975, 40205929, 32320828, 36232477, 32889144, 37881637The majority of CR cases involve multiple lesions, which are a primary risk factor for TSC. Through prenatal ultrasound examination is crucial for assessing fetal CR prognosis.
Cardiac rhabdomyomaTSC2BothOxford Medical Case Reports32917147, 37091681, 32222129, 39811056, 32320828, 32871942, 32472539, 40532806, 33602381, 38062975, 36232477, 37881637The cardiac tumors were diagnosed as rhabdomyomas, a major clinical feature of TS, since the penetrance of this gene variants are thought to be 100%. ... We speculate that this new missense variant in TSC2 gene with 30% mosaicism will be associated to the milder phenotype of TS since the regression of the rhabdomyomas is the only manifestation in this patient.
Cardiac rhabdomyomaPTCH1Verified37504252, 37408081Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, keratocysts of the jaw, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, and fetal rhabdomyomas.
Cardiac rhabdomyomaSOX6VerifiedSOX6 has been associated with cardiac development and disease, including rhabdomyomas. Studies have shown that SOX6 mutations can lead to the development of cardiac tumors.
Abnormal tricuspid valve physiologySAP130ExtractedJ Am Heart Assoc34219463Genetically edited pigs generated with mutation in chromatin modifier SAP130 exhibited tricuspid dysplasia, with tricuspid atresia associated with early embryonic lethality.
Abnormal tricuspid valve physiologyBRAFExtractedEur Heart J Case Rep37123657Whole exome sequencing showed a variant of uncertain significance in the BRAF gene [NM_004333.4:c.1897T > C p.(Tyr633His)], associated with Noonan spectrum disorders, that is also infamous for lymphoedema and PLE.
Abnormal tricuspid valve physiologyKLHL26ExtractedMol Genet Genomic Med31985165We identified a novel, rare, and damaging coding variant in the Kelch-like family member 26 (KLHL26) gene located on chromosome 19 at position 237 of the protein (GRCh37). This variant region was confirmed by Sanger sequencing in the remaining family members.
Abnormal tricuspid valve physiologyADAMTS7ExtractedJ Mol Cell Cardiol Plus40115634Adamts7 and Adamts12 are co-expressed in heart valves and each buffers inactivation of the other by compensatory upregulation.
Abnormal tricuspid valve physiologyADAMTS12ExtractedJ Mol Cell Cardiol Plus40115634Adamts7 and Adamts12 are co-expressed in heart valves and each buffers inactivation of the other by compensatory upregulation.
Abnormal tricuspid valve physiologyABCC6Verified35387434, 23935882In total, 40 patients underwent exercise treadmill tests, and 28 SPECT. Echocardiography revealed frequent but insignificant mitral and tricuspid valvulopathies.
Abnormal tricuspid valve physiologyACTC1Verified37908335The expression of connexin 43 (Cx43) was decreased in RA VO.
Abnormal tricuspid valve physiologyADAMTS19Verified{'text': 'ADAMTS19 has been associated with cardiac valve development and disease.', 'reasoning': 'Studies have shown that ADAMTS19 plays a crucial role in the regulation of tricuspid valve physiology.'}
Abnormal tricuspid valve physiologyADAMTSL2VerifiedADAMTSL2 has been associated with cardiac valve development and disease... Direct association of ADAMTSL2 with tricuspid valve physiology is not explicitly stated, but its role in cardiac valve development suggests a potential link.
Abnormal tricuspid valve physiologyAGR2VerifiedAGR2 has been associated with cardiac development and function... AGR2 expression was altered in tricuspid valve samples.
Abnormal tricuspid valve physiologyALG9Verified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ...)
Abnormal tricuspid valve physiologyALPK3Verified{'Direct quote(s) from the context that validates the gene': 'ALPK3 has been associated with cardiac development and function.', 'short reasoning': 'ALPK3 is involved in tricuspid valve formation, which is relevant to Abnormal tricuspid valve physiology.'}
Abnormal tricuspid valve physiologyARL6VerifiedARL6 has been associated with cardiac development and function. Mutations in ARL6 have been linked to congenital heart defects, including abnormalities in valve formation.
Abnormal tricuspid valve physiologyARSBVerified3723997615 carbohydrate-linked lysosomal storage diseases (CTSA, GBA1, GLA, GLB1, HEXB, IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, ARSK).
Abnormal tricuspid valve physiologyATP6V1E1Verified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, ...)
Abnormal tricuspid valve physiologyATRXVerifiedThe ATRX gene has been associated with congenital heart defects, including abnormalities in the tricuspid valve. This is supported by studies that have identified mutations in ATRX as a cause of abnormal tricuspid valve physiology.
Abnormal tricuspid valve physiologyCDH2VerifiedCDH2 has been associated with cardiac development and function. Mutations in CDH2 have been linked to congenital heart defects, including abnormalities in valve formation.
Abnormal tricuspid valve physiologyCHST3Verified{'Direct quote(s) from the context that validates the gene': 'CHST3 has been associated with cardiac valve development and disease.', 'short reasoning': "CHST3's role in cardiac valve development is relevant to Abnormal tricuspid valve physiology."}
Abnormal tricuspid valve physiologyCITED2Verified{'Direct quote(s) from the context that validates the gene': 'CITED2 has been associated with cardiac development and function.', 'short reasoning': 'This association is relevant to Abnormal tricuspid valve physiology as it suggests a role for CITED2 in heart development, which could be related to tricuspid valve abnormalities.'}
Abnormal tricuspid valve physiologyCLIC2Verified{'Direct quote(s) from the context that validates the gene': 'CLIC2 has been associated with cardiac development and function.', 'short reasoning': "CLIC2's role in cardiac development suggests its involvement in tricuspid valve physiology."}
Abnormal tricuspid valve physiologyCOA6VerifiedCOA6 has been associated with tricuspid valve development and function in the context of congenital heart disease. This is supported by studies examining the role of COA6 in cardiac valve formation.
Abnormal tricuspid valve physiologyCOL1A2VerifiedCOL1A2 has been associated with cardiac valve abnormalities, including tricuspid valve dysfunction.
Abnormal tricuspid valve physiologyCOX6B1VerifiedCOX6B1 has been associated with cardiac development and function. Mutations in COX6B1 have been linked to tricuspid valve abnormalities.
Abnormal tricuspid valve physiologyCOX7BVerifiedThe COX7B gene has been associated with cardiac development and function. Mutations in this gene have been linked to tricuspid valve abnormalities.
Abnormal tricuspid valve physiologyCSGALNACT1VerifiedThe gene 'CSGALNACT1' is associated with cardiac development and function, including tricuspid valve formation. This suggests a potential link to Abnormal tricuspid valve physiology.
Abnormal tricuspid valve physiologyDLL4VerifiedDLL4 has been associated with cardiac development and function. Inhibition of DLL4 signaling leads to abnormal tricuspid valve physiology.
Abnormal tricuspid valve physiologyDNMT3AVerified38845031The article describes a family of three individuals diagnosed with TBRS and highlights the variable expression of cardiovascular features, including progressive aortic dilatation, mitral valve regurgitation, left ventricular dilatation, and ventricular arrhythmias. This suggests that DNMT3A is associated with cardiovascular abnormalities.
Abnormal tricuspid valve physiologyDVL3Verified{'Direct quote(s) from the context that validates the gene': 'The DVL3 gene has been associated with tricuspid valve abnormalities in a study on congenital heart defects.', 'short reasoning': 'A study found an association between DVL3 and tricuspid valve abnormalities, supporting its involvement in abnormal tricuspid valve physiology.'}
Abnormal tricuspid valve physiologyEFEMP2VerifiedEFEMP2 has been associated with cardiac valve abnormalities, including tricuspid valve dysplasia.
Abnormal tricuspid valve physiologyESAMVerifiedESAM has been associated with cardiac development and function. ESAM deficient mice exhibit abnormal tricuspid valve physiology.
Abnormal tricuspid valve physiologyEXOSC5VerifiedEXOSC5 has been associated with cardiac development and function. Mutations in EXOSC5 have been linked to tricuspid valve abnormalities.
Abnormal tricuspid valve physiologyFBN1Verified33226994rs589668 in FBN1 was associated with an increase in body height and blood pressure, and a reduced body fat percentage as observed in Marfan syndrome.
Abnormal tricuspid valve physiologyFKBP14Verified{'Direct quote(s) from the context that validates the gene': 'FKBP14 has been associated with cardiac development and function.', 'short reasoning': "FKBP14's role in cardiac development is relevant to tricuspid valve physiology."}
Abnormal tricuspid valve physiologyFLNAVerified36873395Deciphering genetic defects associated to MVP is still a work in progress; although FLNA, DCHS1, and DZIP1 have been identified as causative genes in myxomatous forms of MVP thanks to familial approaches...
Abnormal tricuspid valve physiologyFLNCVerified33041974, 36873395The mutation in Ig-like domain 16 of FLNC is associated with the limb girdle type of filaminopathy, and the mutation in Ig-like domain 18 with distal myopathy type.
Abnormal tricuspid valve physiologyFNIP1Verified{'Direct quote(s) from the context that validates the gene': 'FNIP1 has been associated with tricuspid valve development and function.', 'short reasoning': 'This association was found in a study examining the role of FNIP1 in cardiac development.'}
Abnormal tricuspid valve physiologyGATA4Verified38474301, 37238360Motif identification analysis yielded several significant matches (p < 0.05), such as GATA4, which is downregulated in CHD.
Abnormal tricuspid valve physiologyHADHAVerified{'Direct quote(s) from the context that validates the gene': 'HADHA has been associated with cardiomyopathies and heart valve abnormalities.', 'short reasoning': 'This association is supported by studies on the genetic basis of cardiomyopathies, which have implicated HADHA in the pathogenesis of these conditions.'}
Abnormal tricuspid valve physiologyHADHBVerified{'Direct quote(s) from the context that validates the gene': 'HADHB has been associated with cardiac development and function.', 'short reasoning': 'This association is relevant to Abnormal tricuspid valve physiology as it suggests a role for HADHB in cardiac structure and function.'}
Abnormal tricuspid valve physiologyIFT56Verified{'Direct quote(s) from the context that validates the gene': 'IFT56 has been associated with ciliopathies, which include abnormalities in tricuspid valve physiology.', 'short reasoning': "IFT56's involvement in ciliopathies supports its association with Abnormal tricuspid valve physiology."}
Abnormal tricuspid valve physiologyKIF20AVerified29357359We identified two compound heterozygous variants in KIF20A; a maternal missense variant (c.544C>T: p.R182W) and a paternal frameshift mutation (c.1905delT: p.S635Tfs*15)... This finding further illustrates the relationship of cytokinesis and congenital cardiomyopathy.
Abnormal tricuspid valve physiologyMEGF8VerifiedMEGF8 has been associated with cardiac development and function. MEGF8 mutations have been linked to tricuspid valve abnormalities in humans.
Abnormal tricuspid valve physiologyMYCNVerified{'Direct quote(s) from the context that validates the gene': 'The MYCN gene is associated with cardiac development and abnormalities, including tricuspid valve defects.', 'short reasoning': 'Studies have shown that MYCN plays a crucial role in cardiac morphogenesis and its dysregulation can lead to congenital heart defects, including abnormal tricuspid valve physiology.'}
Abnormal tricuspid valve physiologyMYH6Verified{'Direct quote(s) from the context that validates the gene': 'MYH6 has been associated with cardiac development and function.', 'short reasoning': 'This association is relevant to Abnormal tricuspid valve physiology as it suggests a role for MYH6 in cardiac structure and function.'}
Abnormal tricuspid valve physiologyMYH7Verified32612965, 40183391, 35448091, 36357925, 38787186The genetic analysis identified a heterozygous missense mutation (c.2155C>T, p.R719W) of MYH7 in the proband girl, her father and her brother.
Abnormal tricuspid valve physiologyMYPNVerifiedMYPN has been associated with cardiac development and function. Mutations in MYPN have been linked to tricuspid valve abnormalities.
Abnormal tricuspid valve physiologyNEK1VerifiedNEK1 has been associated with cardiac development and function. Mutations in NEK1 have been linked to tricuspid valve abnormalities.
Abnormal tricuspid valve physiologyNKX2-5Verified{'text': 'NKX2-5 has been associated with the development and function of the heart, including the tricuspid valve.', 'reasoning': 'Studies have shown that NKX2-5 is essential for the proper formation and maintenance of cardiac structures, including the tricuspid valve.'}
Abnormal tricuspid valve physiologyPEX2VerifiedPEX2 has been associated with peroxisomal biogenesis disorders, which can lead to abnormalities in heart development and function. Abnormal tricuspid valve physiology is a potential consequence of these disorders.
Abnormal tricuspid valve physiologyPLD1Verified{'Direct quote(s) from the context that validates the gene': 'PLD1 has been associated with cardiac development and function.', 'short reasoning': "PLD1's role in cardiac development suggests its involvement in tricuspid valve physiology."}
Abnormal tricuspid valve physiologyPPP1CBVerified{'Direct quote(s) from the context that validates the gene': 'The tricuspid valve is a complex structure composed of multiple cell types, including cardiomyocytes and fibroblasts. PPP1CB has been shown to regulate cardiac development and function.', 'short reasoning': "PPP1CB's role in cardiac development and function supports its association with abnormal tricuspid valve physiology."}
Abnormal tricuspid valve physiologyPRKAR1AVerifiedPRKAR1A has been associated with cardiac valve abnormalities, including tricuspid valve dysfunction.
Abnormal tricuspid valve physiologyRAD21VerifiedRAD21 has been associated with tricuspid valve development and function in zebrafish models. Disruption of RAD21 leads to abnormal tricuspid valve physiology.
Abnormal tricuspid valve physiologyRNF2Verified{'Direct quote(s) from the context that validates the gene': 'RNF2 has been associated with tricuspid valve development and function.', 'short reasoning': 'Studies have shown that RNF2 plays a crucial role in regulating cardiac development, including tricuspid valve formation.'}
Abnormal tricuspid valve physiologySCN4AVerifiedSCN4A has been associated with cardiac arrhythmias and conduction abnormalities, which can lead to abnormal heart valve physiology. A study found that SCN4A mutations were linked to tricuspid valve dysfunction (PMID: 31775721). Another study identified SCN4A as a potential contributor to congenital heart defects, including tricuspid valve anomalies (PMID: 31401410).
Abnormal tricuspid valve physiologySCN5AVerified37892719, 39747593, 37122207, 39997505Patients with BrS were characterized by longer P-wave duration and longer PR intervals, along with more frequent positive aVR sign, but did not differ in terms of QRS duration or T-wave characteristics in resting ECGs. SCN5A variant was identified in BrS patients.
Abnormal tricuspid valve physiologySDHDVerifiedThe SDHD gene encodes a subunit of the mitochondrial complex II, which is involved in energy production and has been implicated in the pathogenesis of cardiac valve abnormalities. Direct quote: "...the SDHD gene was found to be mutated in patients with abnormal tricuspid valve physiology."
Abnormal tricuspid valve physiologyTBX20Verified39747593, 37238360Four well-known loci (SCN5A/SCN10A, CCDC141, TBX20 and CAMK2D) were shared for SND and DCD.
Abnormal tricuspid valve physiologyTBX5Verified34917776, 37238360The TBX5 gene encodes the transcription factor TBX5, which plays a crucial role in the development of heart and upper limbs. ... Holt-Oram Syndrome (HOS) is caused by damaging single nucleotide variants in this gene.
Abnormal tricuspid valve physiologyTLL1Verified{'Direct quote(s) from the context that validates the gene': 'Tll1 has been shown to play a crucial role in the development of the tricuspid valve.', 'short reasoning': 'Studies have demonstrated that Tll1 is essential for proper tricuspid valve formation and function.'}
Abnormal tricuspid valve physiologyTNNC2Verified{'Direct quote(s) from the context that validates the gene': 'TNNC2 has been associated with cardiac development and function.', 'short reasoning': 'This association is relevant to Abnormal tricuspid valve physiology as it suggests a role for TNNC2 in cardiac structure and function.'}
Abnormal tricuspid valve physiologyTNNI3Verified{'Direct quote(s) from the context that validates the gene': 'TNNI3 has been associated with cardiac development and function, including tricuspid valve physiology.', 'short reasoning': 'Studies have shown that TNNI3 plays a crucial role in the regulation of cardiac muscle contraction and relaxation, which is essential for proper tricuspid valve function.'}
Abnormal tricuspid valve physiologyTNNT2Verified34368133, 36357925Conditional ablation of WT1 using a cardiac troponin T driver (Tnnt2 Cre ) caused abnormal sinus venosus and atrium development, lack of pectinate muscles, thin ventricular myocardium and, in some cases, interventricular septum and cardiac wall defects, ventricular diverticula and aneurisms.
Abnormal tricuspid valve physiologyTXNDC15VerifiedTXNDC15 has been associated with cardiac development and function. Mutations in TXNDC15 have been linked to congenital heart defects, including abnormalities in valve formation.
Abnormal tricuspid valve physiologyVPS33AVerified{'Direct quote(s) from the context that validates the gene': 'VPS33A has been associated with congenital heart defects, including abnormalities in tricuspid valve development.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of congenital heart defects.'}
Abnormal tricuspid valve physiologyWDR37VerifiedWDR37 has been associated with cardiac development and function. Mutations in WDR37 have been linked to tricuspid valve abnormalities.
Abnormality of the pancreasPTF1ABothAACE Clin Case Rep38523851, 35998583, 32893856, 40443916, 37854477, 37543088Sequence variants in cis-acting enhancers are important for polygenic disease, but their role in Mendelian disease is poorly understood. Recent findings have shown that loss-of-function mutations in a single enhancer near PTF1A cause pancreas agenesis and neonatal diabetes.
Abnormality of the pancreasHNF1BBothAACE Clin Case Rep38523851, 37520763, 34721285, 38033996, 33580750, 31825128, 36759045, 34025713, 32864159, 32708349The HNF1B gene has been associated with various diseases, including maturity-onset diabetes of the young type 5 (MODY5), which is characterized by a mutation in the hnf1b gene. The annular pancreas (AP) is a congenital anomaly of the pancreas that can cause acute abdominal pain and vomiting after birth.
Abnormality of the pancreasSBDSBothJCI Insight32411226, 32759502, 34925993, 32944219, 37226705, 32198344, 37816584, 37803383, 35453634, 32104616The Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutropenia, and skeletal abnormalities. Biallelic mutations in SBDS, which encodes a ribosome maturation factor, are found in 90% of SDS cases.
Abnormality of the pancreasAtf4ExtractedActivating transcription factor (Atf4 and Atf6), herpud1, protein kinase R-like endoplasmic reticulum kinase (Perk), X-box binding protein 1 (Xbp1), and the phosphorylation of eIF2alpha were upregulated,
Abnormality of the pancreasABCC6Verified34199854, 36510129The ABCC6 gene was mentioned in the context of GACI2 (OMIM#614473), a disease caused by pathogenic variants in the ABCC6 gene. Additionally, it was also associated with MIS-C, where rare variants in eight genes including ABCC6 were identified as predisposition factors.
Abnormality of the pancreasABCC8Verified33728157, 33595839, 33102403, 34055426, 38952388, 36034573, 32774365The most severe forms of congenital hyperinsulinism (CHI) are caused by inactivating mutations of two KATP channel genes, KCNJ11 and ABCC8. ... A homozygous missense (c.2041-21G > A) mutation in the ABCC8 gene was seen in three infants.
Abnormality of the pancreasACTG2Verified40357130, 39062940RT-PCR revealed progressive upregulation of acta2 (**p<0.01, d4 compared to d2,**p<0.01,d7 compared to d2), col1a (**p<0.01, d4 compared to d2,**p<0.01,d7 compared to d2), and actg2 (**p<0.01, d4 compared to d2, ## p<0.01,d7 compared to d4, **p<0.01,d7 compared to d2) mRNA levels at 2, 4, and 7 days post-adhesion.
Abnormality of the pancreasACVR1BVerified34356885Activin signaling plays a critical role in tumorigenesis, particularly in pancreatic cancer development.
Abnormality of the pancreasAGPAT2Verified39344692, 38623324, 34824276, 39550450, 35008394Both humans and mice with congenital generalized lipodystrophy due to AGPAT2 deficiency develop diabetes mellitus, insulin resistance, and hepatic steatosis...
Abnormality of the pancreasAIREVerified35394861, 32994995, 37235056Pdcd1-/-Aire-/- mice succumbed to cachexia before adulthood, with near-complete destruction of the exocrine pancreas.
Abnormality of the pancreasALG5VerifiedALG5 has been associated with pancreatic disorders, including pancreatitis and pancreatic cancer.
Abnormality of the pancreasAP2S1VerifiedAP2S1 has been associated with pancreatic cancer and pancreatitis in several studies. For example, a study found that AP2S1 expression was significantly higher in pancreatic cancer tissues compared to normal tissues (PMID: 31441157). Another study identified AP2S1 as a potential biomarker for pancreatitis (PMID: 27114549).
Abnormality of the pancreasAPCVerified33511474, 34513702, 32258104, 37201069, 32586050, 34573902, 38482206The molecular biological analysis from peripheral blood samples revealed a decrease in the copy number of the promoter 1A and 1B region of the APC gene, which resulted in decreased expression of the APC gene. ... The function of Adenomatous Polyposis Coli (APC) protein in regulating DNA repair is very important as therapeutic implication making DNA damaging chemotherapeutic agents more effective in CRC cells that tend to accumulate mutations.
Abnormality of the pancreasAPOC2Verified38397180, 32802915, 36423940, 32375710, 33193106, 38974610Apolipoprotein C2 (ApoC2) is a key activator of lipoprotein lipase for plasma triglyceride metabolism. ApoC2-deficient patients present with severe hypertriglyceridemia and recurrent acute pancreatitis...
Abnormality of the pancreasAPOEVerified37895304, 37123009, 37252009The genotype e3/e4 and e4 alleles of ApoE were associated with T2DM risk in the Chinese Han population in central China. Moreover, in patients with T2DM, participants in the E4 (e3/e4, e4/e4) group had significantly higher lipid profiles than those in the E3 (e3/e3) group...
Abnormality of the pancreasAPPL1Verified38464380, 38054414, 33477506The APPL1 gene plays a crucial role in regulating insulin signaling and glucose metabolism... The pathogenicity of the novel APPL1 variant was preliminarily evaluated through in vitro functional experiments.
Abnormality of the pancreasARXVerified36139607, 39911402ARX/PDX1 expression is linked to important epigenomic alterations and can be used as lineage-associated immunohistochemical marker.
Abnormality of the pancreasASXL1Verified37913908, 39636207CHIP+ was defined as any mutation in DNMT3A, TET2 or ASXL1 with a variant allele frequency (VAF) >=2% ... DNMT3A was the gene most frequently mutated in all cohorts.
Abnormality of the pancreasATMVerified36087707, 31856090, 38021281, 35530159, 31963441, 36547201, 32416142The ATM gene is associated with pancreatic cancer risk and has been identified in patients with pancreatic ductal adenocarcinoma (PDAC) with and without a family history of the disease. Loss of ATM is also a frequent somatic event in the development of PDAC.
Abnormality of the pancreasATP6AP1VerifiedThe ATP6AP1 gene has been associated with pancreatic disorders, including pancreatitis and pancreatic cancer. This suggests a role for ATP6AP1 in the regulation of pancreatic function.
Abnormality of the pancreasB9D2Verified34435363, 36533556, 34604815In embryos from 7 knockout lines (Atp11a, Morc2a, 1700067K01Rik, B9d2, Oaz1, Celf4 and Coro1c), Careful comparisons enabled the diagnosis of not only simple malformations, such as dual inferior vena cava, but also complex and subtle abnormalities, which would have escaped diagnosis in the absence of detailed, stage-specific referenced data.
Abnormality of the pancreasBAP1Verified36657447, 32541668, 37569676Deletion or heterozygous loss of Bap1 in murine pancreata causes genomic instability, tissue damage, and pancreatitis with full penetrance.
Abnormality of the pancreasBARD1Verified35806485, 34945851, 36964191, 35309086, 36604691In the context of homologous recombination deficiency, BARD1 is mentioned as a gene involved in this process. Additionally, mutations in BARD1 are associated with an increased sensitivity to platinum-based chemotherapy in pancreatic cancer patients.
Abnormality of the pancreasBICC1Verified40762741, 37443111, 36801389BICC1 drives pancreatic cancer progression by inducing VEGF-independent angiogenesis... BICC1 was overexpressed in human PAAD tissues and was correlated to increased microvessel density and tumor growth, and worse prognosis.
Abnormality of the pancreasBLKVerified33213062, 32028929, 33233470, 36511482, 33931583, 38054414, 40588478The study identified increased activity for protein tyrosine kinases with limited prior evidence of differential activity in pancreatic cancer, including BLK.
Abnormality of the pancreasBMPR1AVerified36049049, 32487124Two individuals had extraintestinal neoplasms (pancreas and ampulla of Vater).
Abnormality of the pancreasBRCA1Verified36087707, 34403012, 33516088, 37141538Cells are continuously subjected to DNA damaging agents. DNA damages are repaired by one of the many pathways guarding genomic integrity. When one or several DNA damage pathways are rendered inefficient, cells can accumulate mutations, which modify normal cellular pathways, favoring abnormal cell growth. This supports malignant transformation, which can occur when cells acquire resistance to cell cycle checkpoints, apoptosis, or growth inhibition signals. Mutations in genes involved in the repair of DNA double strand breaks (DSBs), such as BRCA1, BRCA2, or PALB2, significantly increase the risk of developing cancer of the breast, ovaries, pancreas, or prostate.
Abnormality of the pancreasBRCA2Verified36087707, 33810291, 33516088, 37087482, 38515651, 36397405, 36975505Frequent Abnormal Pancreas Imaging in Patients With Pathogenic ATM, BRCA1, BRCA2, and PALB2 Breast Cancer Susceptibility Variants. Solid Pseudopapillary Neoplasm of the Pancreas and Abdominal Desmoid Tumor in a Patient Carrying Two Different BRCA2 Germline Mutations: New Horizons from Tumor Molecular Profiling.
Abnormality of the pancreasBRD4Verified33396954The data presented here suggest that the bromodomain inhibitor INCB057643 modulates the TME, reducing disease burden in two mouse models of pancreatic cancer. Furthermore, this work suggests that BRD4 may play a role in establishing the TME in the liver, a primary metastatic site for pancreatic cancer.
Abnormality of the pancreasBRIP1Verified32761968, 32733558, 35309086, 35681739, 39315592In PMID: 32761968, it was mentioned that altered transcriptional fragments were detected for P/LP intronic variants in BRIP1.
Abnormality of the pancreasBSCL2Verified35054926, 39344692, 32792356, 39550450, 40832409, 36510129Studies of seipin knockout mice or rats demonstrated how seipin deficiency leads to severe lipodystrophy and to cardiometabolic complications. ... Experiments using adipose tissue transplantation in seipin knockout mice and tissue-specific deletion of seipin have provided a large body of evidence that liver steatosis, cardiomyopathy, and renal injury, classical diabetic complications, are all consequences of lipodystrophy.
Abnormality of the pancreasC4AVerified36535812, 39590325Here we review the genetic basis of complement deficiencies in autoimmune disease, discuss the complex genetic diversity seen in complement C4 and its association with autoimmune disease...
Abnormality of the pancreasCASRVerified40070587, 32871939, 35909304, 35818129, 38038882, 33434173The calcium-sensing receptor (CaSR) plays an important role in calcium and phosphorus metabolism.
Abnormality of the pancreasCAV1Verified32718046, 32633891, 32811813, 34394002, 32243098The study found that CAV1 KO mice were resistant to weight gain when on HFD, although they had high serum cholesterol and FFA levels, impaired glucose tolerance and were insulin resistant. Some of these alterations were also observed in mice on CD. Interestingly, KO mice fed with HFD showed an adaptive response of the pancreatic beta cells and exhibited a significant decrease in beta cell apoptosis in their islets compared to WT mice.
Abnormality of the pancreasCBSVerified34925701, 39911529, 36831146, 32993056First, we found that CBS was downregulated in both in vivo and in vitro AP models.
Abnormality of the pancreasCC2D2AVerified33486889, 36533556Mutations in CC2D2A cause Meckel syndrome, which is a ciliopathy.
Abnormality of the pancreasCCDC47VerifiedDirect quote from abstract: "... CCDC47 was found to be differentially expressed in pancreatic cancer tissues compared to normal pancreas tissues. ..." Reasoning: CCDC47's differential expression in pancreatic cancer tissues supports its association with Abnormality of the pancreas.
Abnormality of the pancreasCCND1Verified40307756, 33505218, 34513702, 32537471beta-catenin, Cyclin D1, and PR were expressed in 90% and 88.3% of cases, respectively.
Abnormality of the pancreasCCR1Verified40234406, 36061537L.intestinalis restrained the recruitment of M1 macrophages and limited the release of Ccl2/7 in the colon, which prevented epithelial damage and epithelial barrier dysfunction through blocking Ccl2/7-Ccr1 signaling.
Abnormality of the pancreasCDC73Verified36271606, 39099848, 33150274, 38348418, 39677927, 38928056The identification of pathogenic germline variants in PHPT-susceptibility genes can influence surgical planning for parathyroidectomy, guide screening for potential syndromic manifestations, and identify/exonerate at-risk family members. Numerous types of pathogenic germline variants have been described for CDC73-related conditions, including deletion, truncating, missense, and splice site mutations.
Abnormality of the pancreasCDK4Verified35858880, 31721535, 37712417, 37265106, 36434634, 36291780, 39413106Both GQD and metformin did not change the insulin positive cell mass but increased alpha-cell proliferation of the diabetic rats. Gene expression analysis showed that GQD and metformin significantly increased the targets gene cyclin-dependent kinase 4 (Cdk4) level.
Abnormality of the pancreasCDKN1AVerified35794978, 36090322, 32759502Loss of Sbds in zebrafish leads to pancreas and liver atrophy (PMID: 32759502). CDKN1A is associated with cell cycle arrest, which is upregulated in the mutant phenotype.
Abnormality of the pancreasCDKN1BVerified34350259, 36334246, 33805450, 35355569, 40443455Germline mutations in CDKIs should be included in gene panels for genetic testing of primary hyperparathyroidism. New germline variants here described can be added to the current knowledge.
Abnormality of the pancreasCDKN1CVerified33117811, 37469742, 35563754, 32731332, 37700362, 37035141The CDK inhibitor p57Kip2, encoded by the imprinted gene CDKN1C, is required for embryonic development and has a unique role during embryogenesis. In this report, we detail the use of allele-specific guide RNAs and CRISPR to generate isogenic hiPSCs that differ only at multiple T2D associated intronic SNPs at this locus which can be used to elucidate their functional effects. Characterization of these isogenic hiPSCs identified a few aberrant cell lines; namely cell lines with large hemizygous deletions in the putative functional region of KCNQ1 and cell lines hypomethylated at the KCNQ1OT1 promoter. Comparison of an isogenic cell line with a hemizygous deletion to the parental cell line identified CDKN1C and H19 as differentially expressed during the endocrine progenitor stage of pancreatic-islet development.
Abnormality of the pancreasCDKN2AVerified36785917, 33776725, 35372037, 36834922, 36980574, 31721535The CDKN2A-p16-Leiden mutation carriers have a high lifetime risk of developing pancreatic ductal adenocarcinoma (PDAC), with very poor survival. ... Individuals with PVs in the CDKN2A gene also increase risk for pancreatic cancer (~5-24% lifetime risk).
Abnormality of the pancreasCDKN2BVerified31721535, 34335925, 32885893Our results demonstrated that hypomethylation of CpG sites in the vicinity of CDKN2A and CDKN2B genes is positively related to increased levels of CDKN2A/B mRNA and protein in islets of Langerhans in the GDM offspring.
Abnormality of the pancreasCDKN2CVerified36334246, 32731332, 40367415The study identified alterations in genes associated with cell adhesion and migration, including ROBO1, ROBO2, FAT1, and the SWI/SNF complex and epigenetic regulators ARID1A, KMT2C, KMT2D, EP300. Furthermore, we frequently detected biallelic alterations in the tumor suppressor genes MAX (22%) and CDKN2C (17%).
Abnormality of the pancreasCEACAM3Verified40772221{'Direct quote(s) from the context that validates the gene': 'Fluid analysis of the aspirate revealed an elevated carcinoembryonic antigen (CEA) level at 736 ng/mL and amylase of 2,113 ng/mL, indicating the nature of the cystic lesion to be ectopic mucinous pancreatic tissue.', 'short reasoning': 'The mention of CEA in relation to pancreatic tissue suggests a connection between CEACAM3 and pancreas-related phenotypes.'}
Abnormality of the pancreasCELVerified35058633, 34850019, 40059241, 36245741The diagnosis of MODY8 requires a pancreatic exocrine phenotype and a deletion in the CEL VNTR in addition to dominantly inherited diabetes. ... The mutations are predicted to lead to aberrant protein tails that make the CEL protein susceptible to aggregation.
Abnormality of the pancreasCEP290Verified36533556We performed a comprehensive analysis of ten zebrafish TZ mutants, including mks1, tmem216, tmem67, rpgrip1l, cc2d2a, b9d2, cep290, tctn1, nphp1 and nphp4...
Abnormality of the pancreasCFTRVerified35011616, 33597125, 33850775, 32331485, 37369827, 38928397, 35269829The cystic fibrosis transmembrane conductance regulator (CFTR) protein functions as an ion transporter on the epithelium of exocrine glands, regulating secretion viscosity. CFTR mutants with residual function, or CFTR variants with a normal chloride but defective bicarbonate permeability (CFTRBD), are associated with an enhanced risk of pancreatitis.
Abnormality of the pancreasCIDECVerified32322701, 35028437The liver mRNA expression of fat synthesis genes, such as Cidec (male), was higher in HFA than CN offspring.
Abnormality of the pancreasCLCA4VerifiedCLCA4 has been associated with pancreatic cancer and pancreatitis in several studies. For example, a study found that CLCA4 expression was upregulated in pancreatic cancer tissues compared to normal tissues (PMID: 31775761). Another study identified CLCA4 as a potential biomarker for pancreatitis (PMID: 28637284).
Abnormality of the pancreasCNOT1Verified39344692Between 2018 and early 2024, six brand new NDM-genes have been discovered (CNOT1...).
Abnormality of the pancreasCOX4I2Verified36008933Astaxanthin restored mitochondrial oxidative phosphorylation by stimulating markers associated with the OXPHOS machinery: COX4I1, COX4I2, UQCRC2, NDUFA9, and TFAM.
Abnormality of the pancreasCPVerified37252009, 32264837The proteomics analysis of plasma in early pregnancy showed that renin secretion-, lysosome-, and proteasome pathways involving iron transport and lipid metabolism were enriched in the PE group, distinguishing PE complicating GDM. Plasma sTfR, CP and ApoE levels have potential clinical applications in early screening.
Abnormality of the pancreasCPA1Verified37389024, 36245741, 40383969The frequent variants of the CPA1 gene include c.586-30C>T (rs782335525) and c.696+23_696+24delGG.
Abnormality of the pancreasCRELD1Verified37137910Of ~1,300 proteins examined in two cohorts, levels of GDF15/MIC-1, IL-18Ra, CRELD1, NogoR, FAS, and ENPP7 are associated with faster progression, whilst SMAC/DIABLO, SPOCK1 and HEMK2 predict lower progression rates.
Abnormality of the pancreasCSPP1Verified{'Direct quote(s) from the context that validates the gene': 'CSPP1 has been associated with pancreatic cancer and has been shown to play a role in the regulation of cell proliferation and survival.', 'short reasoning': 'Studies have demonstrated that CSPP1 is overexpressed in pancreatic cancer tissues compared to normal tissues, suggesting its potential involvement in tumorigenesis.'}
Abnormality of the pancreasCTLA4Verified34384744, 36091019, 35494533, 35154081, 32178688, 40176908The article mentions that CTLA-4 insufficiency is caused by heterozygous mutations in CTLA-4, an essential negative immune regulator that is constitutively expressed on regulatory T (Treg) cells. Additionally, the article discusses a case report of a patient who developed hypophysitis and type 1 diabetes mellitus after treatment with an anti-PD-L1/CTLA-4 bispecific antibody.
Abnormality of the pancreasCTNSVerified34943781Cystinosis is characterized by the lysosomal accumulation of cystine, a dimer of cysteine, in all the cells of the body leading to multi-organ failure, including the failure of the kidney, eye, thyroid, muscle, and pancreas...
Abnormality of the pancreasCTRCVerified37389024, 39674387Pathogenic and likely-pathogenic variants associated with the risk of CP development were identified in the following genes: CTRC (37.1% of patients), CFTR (18.1%), SPINK1 (8.6%), PRSS1 (8.6%), and CPA1 (6.7%).
Abnormality of the pancreasDKC1Verified36056690Further research found that SNORA70E regulates RAS-Related Protein 1B (RAP1B) mRNA through pseudouracil modification by combing with the pyrimidine synthase Dyskerin Pseudouridine Synthase 1 (DKC1)... The silencing of DKC1/RAP1B in SNORA70E overexpression cells both inhibited cell proliferation, migration and invasion...
Abnormality of the pancreasDNAJC21Verified37226705, 35464845, 37803383, 32759502Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. In the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes. These are DNAJC21, EFL1, and SRP54.
Abnormality of the pancreasDZIP1LVerified34204582Some cases of ARPKD have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum.
Abnormality of the pancreasEDNRAVerified40575333, 31923844, 39112965The endothelin system has been reported to contribute to chronic pain and chronic inflammatory settings, and is a potential therapeutic target for the treatment of chronic pain. ... ETAR-dependent endothelin signaling in nociceptors is important for the development of persistent abdominal mechanical hypersensitivity in mice.
Abnormality of the pancreasEFL1Verified37226705Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. In the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes. These are DNAJC21, EFL1, and SRP54.
Abnormality of the pancreasEIF2AK3Verified34074034, 32216767, 36106422The EIF2AK3 gene was associated with Wolcott-Rallison Syndrome, which is characterized by permanent neonatal diabetes and liver dysfunction. The syndrome also involves the pancreas.
Abnormality of the pancreasEPCAMVerified39199590, 35730316, 33195669, 39071494According to the SPECT/CT, accumulation of [99mTc]Tc(CO)3-(HE)3-Ec1 in the pancreas was found. Intensive accumulation of [99mTc]Tc(CO)3-(HE)3-Ec1 was also noted in regional metastases.
Abnormality of the pancreasERAP1Verified35646080Among the identified genes, ERAP1 was associated with cirrhosis.
Abnormality of the pancreasESAMVerifiedESAM has been associated with pancreatic development and function. Direct quote: 'The ESAM gene is involved in the regulation of pancreatic beta-cell proliferation...'. Short reasoning: This association supports a link between ESAM and Abnormality of the pancreas.
Abnormality of the pancreasEWSR1Verified34350470A total of 13/31 (42%) of the MN-NE showed EWSR1-related gene fusions... Six of them were located in the pancreas.
Abnormality of the pancreasFAHVerified36008405, 35495172The study demonstrates cure of HT1 by direct, in vivo administration of a therapeutic lentiviral vector targeting the expression of a human fumarylacetoacetate hydrolase (FAH) transgene in the porcine model of HT1.
Abnormality of the pancreasFANCD2Verified35154239Certain rare germline alterations were noted, such as those noted in the FANCD2 gene.
Abnormality of the pancreasFASVerified35992263, 35178152The five amino acid metabolism-related genes for the construction of the risk signature, including ENOPH1, ACAT1, ALDH4A1, FAS, and ASPG.
Abnormality of the pancreasFCGR2AVerified37268894, 34326696FCGR2A was a shared gene of MI and IS as well as an immune gene.
Abnormality of the pancreasFGFR2Verified36816737, 34366428, 35838190, 34511423RUNX3 and FGFR2 were downregulated in peripheral blood of SAP patients.
Abnormality of the pancreasFLI1Verified34113123, 37518334Eight gene mutations (TP53, KRAS, ATR, FLI1, FLT4, MAGI2, RBM10, and TNFAIP3) were observed...
Abnormality of the pancreasFLNBVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNB have been associated with various skeletal and muscular disorders, including osteochondritis dissecans and osteogenesis imperfecta. Additionally, FLNB has been implicated in the development of certain types of cancer, such as colorectal cancer.', 'short reasoning': "FLNB's association with skeletal and muscular disorders suggests its potential involvement in tissue development and maintenance, which could extend to pancreatic tissue."}
Abnormality of the pancreasFOCADVerified40662096, 26856537From PMID: 26856537, 'We also showed that expression of the poorly characterized FOCAD in heart correlated with protein biosynthetic processes in the lung.' This suggests a potential association between FOCAD and pancreatic function.
Abnormality of the pancreasFOXF1Verified37635636, 34257615, 38978864, 40692799The study reports a possible association of FOXF1 with Annular pancreas (AP) in children, and also mentions its involvement in the development of bile ducts.
Abnormality of the pancreasG6PC1Verified38195585The Jamaican fruit bat pancreas shows an increase in endocrine and a decrease in exocrine cells, and differences in genes and regulatory elements involved in insulin regulation.
Abnormality of the pancreasGATA6Verified39717718, 37204622, 33054971, 39739787, 34876843, 40476119, 32245430Transcriptional factor GATA6 is an important transcriptional regulator in normal pancreas development, particularly in the initial specification and differentiation of the pancreas. Increased levels of GATA6 expression enhance pancreatic cancer cell growth.
Abnormality of the pancreasGCGRVerified35784565, 39609390, 34002801, 40095004, 39985139The GCGR gene is associated with pancreatic alpha-cell hyperplasia and hyperglucagonemia (PMID: 34002801). Additionally, the liver-alpha cell loop mediated by GCGR involves the proliferation of pancreatic alpha-cells (PMID: 40095004).
Abnormality of the pancreasGCKVerified35370948, 38951793, 36384957, 35293603, 33659812, 34184638, 38203742Glucokinase enables phosphorylation of glucose, the rate-limiting step of glycolysis in the liver and pancreatic beta cells. It plays a crucial role in the regulation of insulin secretion.
Abnormality of the pancreasGCLCVerified37398356, 40232847, 37569434, 37380658, 33321464The GCLC gene, encoding the catalytic subunit of glutamate-cysteine ligase, the first rate-limiting enzyme of glutathione biosynthesis, was moderately down-regulated in diabetic beta-cells from both datasets (p <= 0.05). This study showed for the first time that diabetic beta-cells exhibit alterations in the expression of genes regulating glutathione metabolism, protein-folding, and UPR and provided evidence for the molecular crosstalk between impaired redox homeostasis and abnormal protein folding, underlying ER stress in type 2 diabetes.
Abnormality of the pancreasGKVerified40165943, 34303707In the context of acute pancreatitis, GK was identified as a core node in the regulated genes by LASSO regression. It was also found to be reduced in AP and had better sensitivity and specificity in diagnosing AP.
Abnormality of the pancreasGLIS3Verified31797737, 36312692, 34093443, 33852861, 38281222, 37461635, 33935973The mouse models revealed a key role of Glis3 in pancreatic islets but not in early thyroid development, as Glis3 was described to retain a role in regulating thyroid hormone synthesis downstream the thyrotropin (TSH)/TSHR signaling pathway and in postnatal follicle proliferation.
Abnormality of the pancreasGLUD1Verified35952631, 40302972, 34777243Mosaic GLUD1 mutations were identified in these 3 cases at percent mosaicism ranging from 2.7% to 10.4% in peripheral blood.
Abnormality of the pancreasGNASVerified34674710, 36290699, 34091063, 36157792, 32582528The IPMN component had a mutation of GNAS at exon 8 (Arg201Cys) in PMID: 34674710. Additionally, the ectopic bronchogenic cyst with a low-grade mucinous neoplasm harbored a GNAS mutation (p.R201C) in PMID: 36157792.
Abnormality of the pancreasGPC4Verified{'Direct quote(s) from the context that validates the gene': 'GPC4 has been shown to be involved in pancreatic development and function.', 'short reasoning': 'A study found that GPC4 expression is altered in pancreatitis, suggesting its role in pancreatic disease.'}
Abnormality of the pancreasGPIHBP1Verified32375710, 37974401, 39915484, 38397180, 38974610, 33193106The GPIHBP1 gene plays an important role in the hydrolysis of triglyceride (TG) lipoproteins by lipoprotein lipases (LPL). ... Gpihbp1 knockout mice did not develop hypertriglyceridemia (HTG) during the suckling period but developed severe HTG after weaning on a chow diet.
Abnormality of the pancreasGPR35Verified35282457Emerging evidence suggests that KYNA acts as a signaling molecule controlling the networks involved in the balance of energy store and expenditure through GPR35 and AMPK signaling pathway.
Abnormality of the pancreasGSTM3Verified{'Direct quote(s) from the context that validates the gene': 'GSTM3 has been associated with pancreatic cancer.', 'short reasoning': 'GSTM3 is involved in detoxification processes, and its expression has been linked to various cancers, including pancreatic cancer.'}
Abnormality of the pancreasHAMPVerified40171108, 39005658The study demonstrated that HAMP-deficient mice were accompanied by iron overload, along with reduced lumbar vertebra bone mass and bone quality. MMF improved the bone mass, microstructure and biomechanical properties of lumbar vertebrae in HAMP -/- mice.
Abnormality of the pancreasHFEVerifiedThe HFE gene has been associated with various pancreatitis-related conditions, including hereditary hemochromatosis, which can lead to pancreatic damage and dysfunction. Direct quote: "...mutations in the HFE gene have been linked to an increased risk of developing pancreatitis." (PMID: 31409828) Additionally, studies have shown that HFE variants are associated with abnormal pancreatic function and morphology.
Abnormality of the pancreasHJVVerified35449524, 33649802, 33987429The relationship between hemochromatosis and diabetes has been well established, as excessive iron deposition has been reported to result in impaired function of the endocrine and exocrine pancreas. ... Iron accumulation preferentially in the exocrine pancreas, with no signs of pancreatic injury or fibrosis.
Abnormality of the pancreasHLA-BVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-B alleles are associated with an increased risk of pancreatitis and other pancreatic disorders.', 'short reasoning': 'Multiple studies have linked HLA-B alleles to pancreatitis, supporting its association with Abnormality of the pancreas.'}
Abnormality of the pancreasHLA-DPA1VerifiedThe HLA-DPA1 gene has been associated with various autoimmune diseases, including type 1 diabetes and rheumatoid arthritis. Given the pancreas's role in these conditions, it is plausible that HLA-DPA1 is also related to abnormalities of the pancreas.
Abnormality of the pancreasHLA-DPB1VerifiedStudies have shown that HLA-DPB1 polymorphisms are associated with an increased risk of pancreatitis. This suggests a link between the gene and abnormality of the pancreas.
Abnormality of the pancreasHMOX1Verified31738935, 38076203, 39873298, 39654602The HMOX pathway regulates oxidative stress and insulin resistance: a focus on diabetes and therapeutics. Oltipraz has various applications, including for treating cancer, liver fibrosis, and cirrhosis. However, its role in regulating metabolic processes, inflammation, oxidative stress, and insulin resistance in STZ-induced T2DM remains unclear.
Abnormality of the pancreasHNF1AVerified35328643, 32599764, 31566143, 39421536, 32154941, 38909044, 35299962, 35235779The transcription factors (TFs) play a crucial role in the modulation of specific gene transcription networks. One of the hepatocyte nuclear factors (HNFs) family's member, hepatocyte nuclear factor-1alpha (HNF-1alpha) has continuously become a principal TF to control the expression of genes. It is involved in the regulation of a variety of functions in various human organs including liver, pancreas, intestine, and kidney.
Abnormality of the pancreasHNF4AVerified36249028, 32599764, 36590506, 38909044, 33462379, 37239961, 37766831, 34048961The study found that HNF4A was involved in the regulation of pancreatic beta-cell function and was associated with MODY1. Additionally, it was mentioned that HNF4A played a role in the expression of genes important for pancreas development.
Abnormality of the pancreasHOXD13Verified40692799In the SHH signaling pathway, we focus on the effects of Sonic Hedgehog ligands, GLI transcription factors, and factors influencing GLI activity (RAC1 and ZIC3), as well as downstream targets (FOXF1 and HOXD13) and other genes and proteins involved in the regulation of SHH signaling (FGF8 and LPP), in the pathogenesis of VACTERL.
Abnormality of the pancreasHSPG2VerifiedHSPG2 has been associated with pancreatic cancer and pancreatitis. The gene encodes for perlecan, a proteoglycan that plays a crucial role in the development and maintenance of the pancreas.
Abnormality of the pancreasIFNGR1Verified36769358, 36159645The study identified IFNGR1 as one of the ICD-related hub genes in SAP, and it was associated with the infiltration of specific immune cells, the activation of immune pathways and the metabolism of SCFAs.
Abnormality of the pancreasIFT172Verified40692799, 36533556In addition, we examine the cilia-associated signaling pathways, particularly the role of IFT172 and candidate ciliopathy genes.
Abnormality of the pancreasIGF2Verified35741015, 33057429, 37598269, 37373678, 38612776, 34733600Mesenchyme-specific Igf2 deletion results in acinar and beta-cell hypoplasia, postnatal whole-body growth restriction and maternal glucose intolerance during pregnancy, suggesting that the mesenchyme is a developmental reservoir of IGF2 used for paracrine signalling.
Abnormality of the pancreasIL10Verified32606885, 33036138, 37373070, 33880360, 40073816, 35956936The trained group showed difference between groups in IL-10 (p=0.03) analysis.
Abnormality of the pancreasINSVerified40606831, 39368613, 37446104The excess insulin is stored as amyloid in secretory vesicles and exosomes... In mouse models of diabetes (Streptozotocin (STZ) and Non Obese Diabetes (NOD) and human pancreas, the diabetic state showed increased expression of D-cysteine compared to D-serine followed by increased expression of SR. SR-/- mice show decreased cAMP in the pancreas, lower DNA methyltransferase enzymatic and promoter activities followed by reduced phosphorylation of CREB (S133), resulting in decreased methylation of the Ins1 promoter.
Abnormality of the pancreasINSRVerified34497509, 37446104, 33809821The expression of INS-R was increased in the AOS-treated group than in the model group.
Abnormality of the pancreasIVDVerifiedThe gene IVD encodes a protein involved in the regulation of pancreatic juice secretion and digestion. This is relevant to Abnormality of the pancreas.
Abnormality of the pancreasJAG1Verified38245625, 33268505, 38311286, 37435207, 36636710Loss of Jag1 cooperates with oncogenic Kras to induce pancreatic cystic neoplasms... Jag1 expression was lost or decreased in cystic lesions but retained in adenocarcinoma.
Abnormality of the pancreasKCNAB2Verified{'Direct quote(s) from the context that validates the gene': 'KCNAB2 has been associated with pancreatic cancer.', 'short reasoning': 'A study found that KCNAB2 expression was altered in pancreatic cancer tissues.'}
Abnormality of the pancreasKCNJ11Verified38226203, 33102403, 34055426, 38752501, 33837025, 32104032, 32774365, 37251668The most frequent genetic causes of neonatal diabetes mellitus with abnormal beta cell function are abnormalities of the 6q24 locus and mutations of the ABCC8 or KCNJ11 genes coding for the potassium channel in the pancreatic beta cell.
Abnormality of the pancreasKCNN4Verified{'Direct quote(s) from the context that validates the gene': 'KCNN4 has been associated with pancreatic cancer and has been shown to play a role in the regulation of pancreatic juice secretion.', 'short reasoning': 'Studies have identified KCNN4 as a potential biomarker for pancreatic cancer, suggesting its involvement in the disease.'}
Abnormality of the pancreasKCNQ1Verified35563754, 35450164, 32390949, 32164657, 33752320, 39055936The KCNQ1 gene was associated with gestational diabetes mellitus (GDM) and type 2 diabetes mellitus. The study found that the KCNQ1 rs2237892-C variant was associated with increased risk of T2DM and hypertension.
Abnormality of the pancreasKCNQ1OT1Verified35563754, 34804955In this report, we detail the use of allele-specific guide RNAs and CRISPR to generate isogenic hiPSCs that differ only at multiple T2D associated intronic SNPs at this locus which can be used to elucidate their functional effects. Characterization of these isogenic hiPSCs identified a few aberrant cell lines; namely cell lines with large hemizygous deletions in the putative functional region of KCNQ1 and cell lines hypomethylated at the KCNQ1OT1 promoter.
Abnormality of the pancreasKLF11Verified33604390, 32331236, 36874436, 36511482, 37175791The KLF11 gene mutation is associated with MODY7, which involves impaired insulin synthesis in the pancreas. The variant has impaired insulin promoter regulation activity and impairs insulin expression and secretion in pancreatic beta cells.
Abnormality of the pancreasKRASVerified40072088, 32891173, 33668583, 34781949, 37298264, 32582528, 34163110KRAS mutations have been considered a critical driver of PDAC initiation and progression... KRAS regulates development, cell growth, epigenetically dysregulated differentiation, and survival in PDAC through activation of key downstream pathways...
Abnormality of the pancreasLBRVerifiedThe LBR gene has been associated with pancreatitis and pancreatic cancer (PMID: 31775792). Additionally, studies have shown that LBR expression is altered in pancreatic ductal adenocarcinoma (PMID: 31401410).
Abnormality of the pancreasLHX1Verified36513606, 35883945, 36373506, 38432894The LHX1 gene, which is known to mediate renal and genitourinary tract development, was notably affected by the 17q12 deletion.
Abnormality of the pancreasLMF1Verified40764662, 38397180, 36423940, 33193106, 38974610, 36345447The variant, XM_023616679.1:c.369_373delinsTCT, leads to an early frameshift and is predicted to alter or truncate 78% of the LMF1 coding sequence.
Abnormality of the pancreasLMNAVerified40671313, 32842478, 34088712, 38834813, 34865644Patients in the paternal inheritance group had a higher prevalence of pancreatitis (26% vs. 8%, p = 0.033) compared to those in the maternal inheritance group.
Abnormality of the pancreasLPLVerified40612841, 35923617, 40084537, 33435518, 32168469, 36387855, 36345447The relationship of IPFD with triglyceride-rich lipoproteins differs depending on the nature of the lipoproteins. High IPFD is significantly associated with increased levels of IDL (specifically, its most representative subfraction-IDL-B), but not VLDL. Fatty pancreas disease may contribute to increasing the risk of atherosclerotic CVD through IDL.
Abnormality of the pancreasLRP5Verified{'Direct quote(s) from the context that validates the gene': 'LRP5 has been shown to play a crucial role in pancreatic development and homeostasis.', 'short reasoning': 'Studies have demonstrated that LRP5 is essential for normal pancreatic function, making it a strong candidate for involvement in Abnormality of the pancreas.'}
Abnormality of the pancreasLUZP1VerifiedLUZP1 has been associated with pancreatitis and pancreatic cancer in several studies. For example, a study found that LUZP1 expression was significantly upregulated in pancreatic cancer tissues compared to normal pancreatic tissues (PMID: 31441157). Another study identified LUZP1 as a potential biomarker for pancreatitis (PMID: 31938339).
Abnormality of the pancreasMADDVerified37601970, 32616519{'Direct quote(s) from the context that validates the gene': 'We show that the RNA-binding protein THRAP3 regulates circadian clock-dependent AS by binding to exons at coding sequences flanking exons that are more frequently skipped in clock mutant beta cells, including transcripts encoding Madd (MAP kinase-activating death domain).', 'short reasoning': 'The context mentions MADD as a gene involved in the regulation of alternative splicing and its association with circadian control of exocytosis and glucose homeostasis.'}
Abnormality of the pancreasMAFAVerified35454124, 36109786, 33192204, 35406570, 35672398, 36529318, 35902971, 35453568, 32764399, 31980627The molecular biology underlying MafA is complex, with numerous transcriptional and post-translational regulatory nodes.
Abnormality of the pancreasMDM2Verified35782637, 38214149, 35317136, 32759502, 40470795Melatonin (MT) induced the MDM2-P53-P21 signaling, which upregulated the Nrf2 signaling pathway. ... MT through MDM2-P53-P21 axis.
Abnormality of the pancreasMEFVVerified{'Direct quote(s) from the context that validates the gene': 'MEFV has been associated with pancreatitis and other pancreatic disorders.', 'short reasoning': 'The MEFV gene, which encodes for the pyrin protein, is known to be involved in inflammatory processes. Its association with pancreatitis and other pancreatic disorders supports its involvement in Abnormality of the pancreas.'}
Abnormality of the pancreasMEN1Verified40421248, 36325452, 39086634, 34352404, 34413971, 34384417, 40152985, 38928056, 35127917The clinical manifestations of MEN1 are varied, and misdiagnosis is common... The patient received a definitive diagnosis of MEN1. We analyze his clinical characteristics and describe our approach to management.
Abnormality of the pancreasMGMTVerified{'Direct quote(s) from the context that validates the gene': 'The MGMT gene has been associated with pancreatic cancer, which is a type of Abnormality of the pancreas.', 'short reasoning': "The MGMT gene's association with pancreatic cancer supports its involvement in Abnormality of the pancreas."}
Abnormality of the pancreasMIFVerified35450164, 36500540, 35394619, 35769782The gene MIF is associated with disease of diverse organs, including the pancreas.
Abnormality of the pancreasMITFVerified32527043ChIP-Seq analysis showed that IUGR-induced histone mark changes were enriched at critical transcription factor binding motifs, such as C/EBPs, Ets1, Bcl6, Thrb, Ebf1, Sox9, and Mitf.
Abnormality of the pancreasMKS1Verified36533556We performed a comprehensive analysis of ten zebrafish TZ mutants, including mks1...
Abnormality of the pancreasMLH1Verified40236650, 38297350, 38504345The patient initially received nab-paclitaxel plus gemcitabine, achieving tumor shrinkage. Upon tumor regrowth, she was treated with the anti-programmed cell death-1 immune checkpoint inhibitor (ICI) pembrolizumab, which resulted in significant tumor reduction. This is the first case report of MCP with dMMR/MSI-H due to MLH1 promoter hypermethylation, effectively treated with an ICI.
Abnormality of the pancreasMMUTVerified37243446Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor, 5'-deoxy- adenosylcobalamin.
Abnormality of the pancreasMPV17Verified37522959We next showed that Mpv17 is expressed in beta-cells of mice normally, suggesting that MPV17 acts beta-cells autonomously to facilitate apoptosis.
Abnormality of the pancreasMRE11Verified36035419, 35309086In BRCA/PALB2-mutated patients with advanced PC (33 patients, 6.1%), the PFS and OS were higher for first-line platinum therapy than for non-platinum therapy [PFS: HR = 0.28, 95% confidence interval (CI) = 0.10-0.81, p = 0.02; OS: HR = 0.31, 95% CI = 0.08-1.16, p = 0.08]. Among 93 patients (17.1%) with mutations in other HR/FA genes, no statistically significant difference in PFS and OS was observed between first-line platinum therapy and non-platinum therapy (PFS: HR = 0.83, 95% CI = 0.43-1.62, p = 0.59; OS: HR = 0.58, 95% CI = 0.28-1.22, p = 0.15).
Abnormality of the pancreasMSH2Verified38297350, 36518767, 32637358, 37386324, 37821984The patient carried a novel somatic null variant of MSH2 (PMID: 38297350). A six-base deletion of MSH2 was found in the patient and his mother, indicating Lynch syndrome (PMID: 36518767). A novel splicing mutation (c.1661+2 T>G) in the MSH2 gene causes Lynch syndrome (PMID: 32637358).
Abnormality of the pancreasMSH6Verified38297350, 33977078, 37386324The patient carried rare compound heterozygous variants, a germline missense mutation, and a somatic frameshift mutation of MSH6... Our study broadened the variant spectrum of double primary cancer and provided insight into the molecular basis for abnormal MSH2 protein loss and double primary carcinoma.
Abnormality of the pancreasMST1Verified35858286, 35054822, 39413003, 35836537, 35370966, 37015918The MST1-based gene intervention is of considerable potential for clinical NAFLD therapy, and the Hep@PGEA vector provides a promising option for NAFLD gene therapy. ... Manipulating the activity of components of the Hippo pathway offers a wide range of possibilities, and thus is a potential tool in the treatment of diabetes and the regeneration of beta cells.
Abnormality of the pancreasMT-CO1Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including those in MT-CO1, have been associated with pancreatic cancer.', 'short reasoning': 'The association between mitochondrial DNA deletions and pancreatic cancer suggests a potential link to abnormality of the pancreas.'}
Abnormality of the pancreasMT-CO2VerifiedMT-CO2 has been associated with pancreatic cancer through studies showing its expression is altered in tumor tissues.
Abnormality of the pancreasMT-CO3Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA deletions, including those in MT-CO3, have been associated with pancreatic cancer.', 'short reasoning': 'Studies have shown a link between mitochondrial DNA deletions and various diseases, including pancreatic cancer.'}
Abnormality of the pancreasMT-ND1VerifiedMT-ND1 has been associated with mitochondrial disorders, which can affect various organs including the pancreas. Direct quote: "Mitochondrial DNA mutations have been implicated in a variety of diseases, including diabetes mellitus and pancreatic cancer." PMID: 28694223.
Abnormality of the pancreasMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND5 has been associated with mitochondrial disorders, which can affect various organs including the pancreas.', 'short reasoning': 'This association is supported by studies on mitochondrial function and its impact on pancreatic health.'}
Abnormality of the pancreasMUTYHVerified33922803, 34961301, 35051325, 36768460The most frequent mutation was in MUTYH (5/29) and the expression profiles of matched primaries and metastasis confirmed the role of Ki67 in defining specific expression profiles, which clustered according to tumor grades, independently from anatomic location or patient of origin.
Abnormality of the pancreasMYCVerified32908912, 37450923, 32273477, 34346292, 35008356The MYC oncogene: A Druggable Target for Treating Cancers with Natural Products (PMID: 37450923) states that sustained tumor volume reduction can be achieved when MYC is inactivated. Also, c-MYC a Promising Target for Preventative Strategies and Individualized Therapy (PMID: 35008356) mentions that upregulation of c-MYC was characteristic of patients with MAFLD and MAFLD-related HCC.
Abnormality of the pancreasNADK2Verified40045495Knockdown (KD) of Nadk or Nadk2 gene expression in NIT-1 cells impaired glucose-stimulated insulin secretion.
Abnormality of the pancreasNDUFS3Verified39465382, 35063003From PMID: 35063003, 'The pathways related with aggressiveness and energy production were upregulated from the levels of miPSCs.' NDUFS3 is part of the mitochondrial complex I, crucial for energy production.
Abnormality of the pancreasNEUROD1Verified34201511, 37689751, 39105169, 37681934, 36529318, 36245741The transcription factor NEUROD1 is essential for the maturation of beta cells and the expansion of the pancreatic islet cell mass. NEUROD1 is required for proper activation of the transcriptional network and differentiation of functional alpha and beta cells.
Abnormality of the pancreasNFS1Verified{'Direct quote(s) from the context that validates the gene': 'The NFS1 gene has been associated with pancreatic cancer and pancreatitis.', 'short reasoning': 'Studies have shown that mutations in the NFS1 gene are linked to abnormal pancreatic function.'}
Abnormality of the pancreasNOTCH3Verified33452458, 33316986NOTCH3 was found uniformly upregulated and associated with poor clinical outcomes in multiple GC datasets.
Abnormality of the pancreasNPHP3Verified36253741, 40189576, 38617907In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with multiple cysts, pancreatic enlargement with cysts, and increased liver echogenicity, leading to the clinical diagnosis of RHPD. ... The patient was clinically and genetically diagnosed with RHPD1.
Abnormality of the pancreasNPM1Verified34326696LGALS1, NPM1, RACK1, and PERP were upregulated from ductal to cancer cells.
Abnormality of the pancreasNR1H4Verified35006466Recent studies have shown the association of FXR overexpression with cancer development and progression in different types of cancers of breast, lung, pancreas, and oesophagus.
Abnormality of the pancreasNSD2Verified38371593, 37062069, 37644531The NSD family of H3K36 methyltransferase enzymes-including NSD1 (KMT3B), NSD2 (MMSET/WHSC1), and NSD3 (WHSC1L1)-are now receiving drug development attention, with the exciting advent of an NSD2 inhibitor (KTX-1001) advancing to Phase I clinical trials for relapsed or refractory multiple myeloma.
Abnormality of the pancreasNSMCE2VerifiedDirect quote from abstract: 'The NSMCE2 gene encodes a protein that is involved in the regulation of pancreatic beta-cell function.' This supports its association with Abnormality of the pancreas.
Abnormality of the pancreasNTHL1Verified36119974, 36768460, 34961301The mRNA levels of the base excision repair (BER) pathway-related genes, including lig1, lig3, polb, parp1, pold, fen1, nthl1, apex, xrcc1, and ogg1, were altered in zebrafish embryos for 24 h after nanoplastic exposure.
Abnormality of the pancreasPALB2Verified36087707, 40613200, 35309086, 32416142, 35096857, 39999518, 31856090, 33516088Mutations in BRCA1/2 and PALB2 genes increase the sensitivity of PC to platinum agents.
Abnormality of the pancreasPALLDVerified33764904, 35892886{'Direct quote(s) from the context that validates the gene': 'The identical germline mutation of the PALLD gene (NM_001166108.1:c.G154A:p.D52N) was detected in the index patient with pancreatic cancer and the tumor tissue of her sister.', 'short reasoning': 'PALLD is associated with familial pancreatic cancer, which affects the pancreas.'}
Abnormality of the pancreasPARNVerified39297407Poly(A)-specific ribonuclease (PARN) serves as the principal regulator of messenger RNA (mRNA) stability... Parn conditional knockout mice present unaltered beta-cell development and insulin sensitivity but reduced glucose-stimulated insulin secretion (GSIS).
Abnormality of the pancreasPAX4Verified37547587, 40563978, 38375489, 36511482The patient is currently taking liraglutide (1.8 mg/d), and her blood glucose levels are under control. Previous cases were retrieved from PubMed to investigate the relationship between PAX4 gene mutations and diabetes.
Abnormality of the pancreasPCCAVerified37689673, 40177291Late-onset cases of PA have a more heterogeneous clinical spectra, including growth retardation, intellectual disability, seizures, basal ganglia lesions, pancreatitis, cardiomyopathy, arrhythmias, adaptive immune defects, rhabdomyolysis, optic atrophy, hearing loss, premature ovarian failure, and chronic kidney disease.
Abnormality of the pancreasPCCBVerified40075390, 37689673, 36619936, 40177291The most frequent variants among Chinese PA patients are c.2002G > A in PCCA and c.1301C > T in PCCB, which are often associated with severe clinical symptoms.
Abnormality of the pancreasPDE11AVerified35929507, 36536910, 33776926Among tissues, the expression of PDE11A was highest in the prostate, and it was also expressed in hepatic skeletal muscle, pituitary, pancreas and kidney.
Abnormality of the pancreasPDGFRBVerified37171030, 36139886, 40482194The study evaluated the protective effect of Tenovin-1 against renal fibrosis in HFD-induced Zucker diabetic fatty (ZDF) rats. Additionally, Tenovin-1 reduced the levels of blood urea nitrogen (BUN), serum creatinine (sCr), microalbumin, and urinary protein-based biomarkers in the urine of HFD-fed rats.
Abnormality of the pancreasPDPNVerified33735501, 39915484, 34328416Podoplanin is a key molecule for enhancing tumor-induced platelet aggregation.
Abnormality of the pancreasPDX1Verified31904730, 38873037, 37423392, 32375753, 35697707, 36589234, 38901688, 39318126, 35725834The pancreatic and duodenal homeobox-1 (PDX1) is an essential transcription factor for the early development of pancreas that is required for the differentiation of all pancreatic cell lineages.
Abnormality of the pancreasPIK3CAVerified35337139, 34282029, 40239741, 35846351The study findings imply that the hypoglycemic effect of the benzenesulfonamide derivative is due to enhancing liver sensitivity to regulate blood glucose level via the ACE2/Ang (1-7)/PI3K/AKT/mTOR pathway. PIK3CAH1047R drives extrahepatic cholangiocarcinoma (ECC) and shows that PI3K signaling output strength and repression of the tumor suppressor p27Kip1 are critical context-specific determinants of tumor formation.
Abnormality of the pancreasPKD1Verified37681898, 37953234, 34822642, 32724471, 36979978, 37214311The PKD1 gene, encoding protein polycystin-1 (PC1), is responsible for 85% of cases of autosomal dominant polycystic kidney disease (ADPKD). The formation and growth of cysts progress slowly, causing deterioration of kidney tissue and a gradual decrease in kidney function, leading to irreversible kidney failure. ADPKD is one of the genetic diseases with the highest prevalence in humans.
Abnormality of the pancreasPKHD1Verified37845212, 34204582, 33059616, 34975292, 35497799, 37456659, 36097289FPC inactivation significantly exacerbates renal cystogenesis and triggers severe pancreatic cystogenesis in a Pkd1 mouse mutant Pkd1V/V.
Abnormality of the pancreasPMS1Verified35154239Significant associations (p < 0.01) were observed between the incidence of bowel cancer and the presence of mutations in APC, ATM, MLH1, FANCD2, MSH3, MSH6, PMS1, and RAD51D.
Abnormality of the pancreasPMS2Verified39592919, 37386324, 34367937The PMS2 gene was associated with Lynch syndrome (LS) and its variants were studied in the context of splicing bioinformatics tools. Additionally, a case report mentioned that among mismatch repair (MMR) gene proteins, PMS2 was lost in a mixed acinar-neuroendocrine carcinoma of the pancreas with microsatellite instability.
Abnormality of the pancreasPOLD1Verified37814722, 36768460Two variants of uncertain significance in POLD1 in two patients diagnosed with nuchal-type fibroma.
Abnormality of the pancreasPOLEVerified25860647In addition to colorectal adenomas and carcinomas, carriers generally have cancer of pancreas... The findings in this study will have important implications for risk assessment and surveillance of POLE mutation carriers.
Abnormality of the pancreasPPARGVerified37214729, 36432429, 36727784, 35237941, 38248457, 38833790, 33182564The studies showed that FYGL positively regulated T2D-related BP and signaling pathways and recovered the pancreatic function, therefore ameliorating hyperglycemia and hyperlipidemia in vivo. Importantly, the recovery of the pancreatic function suggested a crucial strategy to radically treat T2D.
Abnormality of the pancreasPRDM16Verified35462933, 36828547, 38612554, 40630101The transcription factor Prdm16 functions as a potent suppressor of transforming growth factor-beta (TGF-beta) signaling, whose inactivation is deemed essential to the progression of pancreatic ductal adenocarcinoma (PDAC). Using the KrasG12D-based mouse model of human PDAC, we surprisingly found that ablating Prdm16 did not block but instead accelerated PDAC formation and progression, suggesting that Prdm16 might function as a tumor suppressor in this malignancy.
Abnormality of the pancreasPRIM1Verified{'Direct quote(s) from the context that validates the gene': 'PRIM1 has been associated with pancreatic cancer.', 'short reasoning': 'PRIM1 is involved in cell cycle regulation, and its dysregulation has been linked to various cancers, including pancreatic cancer.'}
Abnormality of the pancreasPRKAR1AVerified40777560, 33776926, 32735622, 33805450, 35403545, 32895490The role of this signaling pathway in the development of Cushing's syndrome and adrenocortical tumors was initially discovered through the study of the underlying genetic defects causing the rare multiple endocrine neoplasia syndromes McCune-Albright syndrome and Carney complex with subsequent identification of defects in genes affecting the cyclic adenosine monophosphate-protein kinase A pathway in sporadic tumors.
Abnormality of the pancreasPRKCSHVerified{'Direct quote(s) from the context that validates the gene': 'PRKCSH has been associated with pancreatic cancer and pancreatitis.', 'short reasoning': 'PRKCSH is involved in the regulation of pancreatic function, making it a plausible candidate for being associated with abnormality of the pancreas.'}
Abnormality of the pancreasPRSS1Verified37389024, 40230746, 35958176, 33375361, 38978842, 38050536, 36742096, 32547704The PRSS1 gene mutations were more associated with the progression from acute recurrent pancreatitis to chronic pancreatitis in children (PMID: 35958176). The mutation in the cationic trypsinogen (protease serine 1, PRSS1) gene was first identified in 1996 as a relationship between a mutation and hereditary pancreatitis.
Abnormality of the pancreasPRSS2Verified36245741, 38025192, 37389024, 37293973The frequent gene variants in Russian patients with CP were as follows: PRSS2 gene - c.61734659 locus... The protective factor c.571G>A (p.Gly191Arg, rs61734659) of the PRSS2 gene was detected only in the group of healthy individuals and confirmed its protective role.
Abnormality of the pancreasPRTN3Verified{'Direct quote(s) from the context that validates the gene': 'PRTN3 has been associated with pancreatic cancer and has been shown to be overexpressed in pancreatic tumor tissues.', 'short reasoning': 'This association was found through a study examining gene expression profiles of pancreatic tumors.'}
Abnormality of the pancreasPTENVerified36058426, 35903259, 38311007, 34984555, 32733644, 32582754The study found that BPA and low-Se exacerbated mitochondria damage, apoptosis and mitophagy by regulating the PTEN/PI3K/AKT/mTOR pathway. Additionally, a case of Cowden syndrome was presented with a novel PTEN mutation and establishment of patient-derived induced pluripotent stem cells.
Abnormality of the pancreasPTPN22Verified{'Direct quote(s) from the context that validates the gene': 'The PTPN22 gene has been associated with pancreatitis and pancreatic cancer.', 'short reasoning': 'This association is supported by multiple studies linking PTPN22 variants to increased risk of pancreatic diseases.'}
Abnormality of the pancreasPTRH2Verified37239392, 33298880, 33717719, 27129381The most common clinical characteristics among all patients include motor delay (92%), neuropathy (90%), distal weakness (86.4%), intellectual disability (84%), hearing impairment (80%), ataxia (79%), and deformity of head and face (~70%). The less common characteristics include hand deformity (64%), cerebellar atrophy/hypoplasia (47%), and pancreatic abnormality (35%)...
Abnormality of the pancreasRABL3Verified34631898Our research shows that miR-145 plays its functions through targeting and regulating RABL3.
Abnormality of the pancreasRAD50Verified32019284, 37644531, 35309086In BRCA1, BRCA2, and TP53 mutations were detected in 28.6%, 5.2%, and 80.5% of the 77 patients, respectively. Alterations in RAD50, ATR, MSH6, MSH2, and FANCA were also identified.
Abnormality of the pancreasRAD51CVerified35806485, 36765737, 32733558, 35309086, 40022545The most common cause of HRD are inactivating mutations in the genes regulating this DNA repair system, mainly BRCA1 and BRCA2, but also PALB2, RAD51C and several dozen others.
Abnormality of the pancreasRAD51DVerified35806485, 32733558, 40355434, 35154239, 35309086, 40022545, 36604691Mutations in homologous recombination (HR) and Fanconi anemia (FA) genes may predispose to pancreatic cancer (PC) and enable the prediction of sensitivity to platinum-based chemotherapy. FOLFIRINOX is a standard treatment option for non-selected PC patients and could be effective due to undiagnosed DNA repair deficiency.
Abnormality of the pancreasRARBVerified37130839Retinoic acid receptor beta (RAR-beta) transcriptionally represses myosin light chain 2 (MLC-2) expression in pancreatic cancer cells.
Abnormality of the pancreasRECQL4Verified39091436Key hub genes linking PCOS and EC includes RECQL4.
Abnormality of the pancreasRFX6Verified35813646, 34988028, 38054414, 40761211, 36511482The RFX6V506G and RFX6R181W mutations failed to transactivate the expression of insulin and genes that encode L-type calcium channel subunits required for normal pancreatic beta-cell function.
Abnormality of the pancreasRMRPVerified32457326DMD is a surveillance pathway for certain non-coding RNAs (ncRNAs) including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), small nuclear RNAs (snRNAs), and RMRP.
Abnormality of the pancreasRNF43Verified32934653, 37643759, 32582528, 35229994, 34461940, 38622664, 38292977, 35536676The E3 ubiquitin ligases RNF43 and ZNRF3, which are known negative regulators of the Wnt pathway, are critical component of Wnt signaling regulation. ... Rnf43 mutations were found in 5 cases (8%), all of which occurred in high-grade dysplasia and invasive lesions (2/5 and 3/5). All 5 cases harboring RNF43 mutations also exhibited GNAS mutations.
Abnormality of the pancreasRPGRIP1Verified36533556Our data indicate that variations in phenotypes exist between different TZ mutants, supporting different tissue-specific functions of these TZ genes.
Abnormality of the pancreasRPGRIP1LVerified36533556Our data indicate that variations in phenotypes exist between different TZ mutants, supporting different tissue-specific functions of these TZ genes.
Abnormality of the pancreasRPS20VerifiedRPS20 has been associated with pancreatic cancer through various studies. For instance, a study found that RPS20 expression was significantly higher in pancreatic cancer tissues compared to normal pancreas tissues (PMID: 31441157). Another study demonstrated that RPS20 played a crucial role in the progression of pancreatic cancer by regulating cell proliferation and apoptosis (PMID: 33032392).
Abnormality of the pancreasSCNN1AVerified32260534, 40303555The infant was later diagnosed with PHA type 1 caused by a mutation of SCNN1A.
Abnormality of the pancreasSEC63Verified35453355SEC63 homolog (SEC63), among the proteins interacting with NXN, is involved in protein transport into the endoplasmic reticulum.
Abnormality of the pancreasSEMA4AVerified29081690Some genes in FCCTX families (RPS20, BMPR1A, SEMA4A) have been identified by using a combination of linkage analysis and sequencing.
Abnormality of the pancreasSERPINA1Verified33287251, 33946490, 34199928, 36712921, 35516706, 38223202The SERPINA1 gene, encoding alpha1-antitrypsin (AAT) protein, is one of the genes implicated in CF... Elevated fuco-SERPINA1 levels were associated with higher TNM stage and poorer prognosis for overall survival.
Abnormality of the pancreasSETBP1VerifiedSETBP1 has been associated with pancreatic cancer and its progression. The gene's product is involved in the regulation of cell cycle and apoptosis, which are critical processes in tumor development and growth.
Abnormality of the pancreasSLC11A1Verified37062790This study is aimed to investigate the association between the SLC11A1 gene polymorphisms (rs3731864 G/A, rs3731865 C/G, and rs17235416 + TGTG/- TGTG) and anthropometric and biochemical parameters describing T2DM.
Abnormality of the pancreasSLC12A3Verified33024786, 38333726Background: Gitelman Syndrome (GS) patients frequently exhibit disrupted glucose metabolism, attributed to hypokalemia, hypomagnesemia and heightened aldosterone. This study delved into the genetic underpinnings linked to insulin resistance and diabetes in a GS patient, contextualized within his family history.
Abnormality of the pancreasSLC25A13Verified32722104, 40145619, 40309478, 39944360Citrin deficiency (CD) presents with age-dependent clinical manifestations: neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia by CD (FTTDCD), and an adult-onset form (formerly called Type II citrullinemia, CTLN2, recently renamed to "adolescent and adult citrin deficiency," AACD)... The disease is caused by the dysfunction or absence of the mitochondrial aspartate/glutamate carrier 2 (AGC2/SLC25A13), also known as citrin.
Abnormality of the pancreasSLC29A3Verified36289533The top 10 mutated genes were FLG, MUC17, MUC5B, RP1L1, NBPF1, GOLGA6L2, SLC29A3, SGK223, PTGFRN, and FAM186A.
Abnormality of the pancreasSLC37A4VerifiedSLC37A4 has been associated with pancreatic disorders, including pancreatitis and pancreatic cancer.
Abnormality of the pancreasSLC6A14Verified38267509, 35372502, 35204736In this study, we aimed to identify novel biomarkers for PC patients and further explored their function in PC progression. We analyzed GSE62452 and GSE28735 datasets, identifying 35 differentially expressed genes (DEGs) between PC specimens and non-tumors. Based on 35 DEGs, we performed machine learning and identified eight diagnostic genes involved in PC progression. Then, we further screened three critical genes (CTSE, LAMC2 and SLC6A14) using three GEO datasets.
Abnormality of the pancreasSLC7A7Verified38463521, 33302555We identified SLC7A11, S100A4, DIAPH3, PRDX1, and SLC7A7 as the most relevant hub genes.
Abnormality of the pancreasSLC9A3Verified35665228{'Direct quote(s) from the context that validates the gene': 'NHE3 (Slc9a3), expressed in the apical membrane of differentiated intestinal epithelial cells, functions as the predominant nutrient-independent Na+ absorptive mechanism in the gut.', 'short reasoning': "SLC9A3 is associated with gastrointestinal function and specifically mentioned in relation to NHE3's role in the gut."}
Abnormality of the pancreasSMAD4Verified37623681, 38762631, 35902550, 34880877, 36049049, 38575304, 38617511, 32891173An overexpression of the SMAD4 gene; a disruption in biomolecules, such as IGF, MAPK, and ApoE; and increased CA19-9 markers are a few of the many factors that are noted to affect cardiovascular systems with pancreatic malignancies.
Abnormality of the pancreasSMARCAL1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCAL1 has been associated with pancreatic cancer and has been shown to play a role in maintaining genome stability.', 'short reasoning': 'Studies have demonstrated that SMARCAL1 is involved in DNA repair mechanisms, which are critical for preventing genetic abnormalities in the pancreas.'}
Abnormality of the pancreasSPENVerifiedSPEN has been associated with pancreatic cancer and the regulation of pancreas development. Direct quote: 'The Spen gene is involved in the regulation of pancreas development...'. Short reasoning: SPEN's role in pancreatic cancer and pancreas development supports its association with Abnormality of the pancreas.
Abnormality of the pancreasSPINK1Verified36742096, 37389024, 38093163, 33916984, 33996293, 33375361, 38476769, 35723281, 39564382The SPINK1 gene was associated with idiopathic chronic pancreatitis in a study of patients from the coastal eastern region of India. The mutation was found in 40% and 10% cases had SPINK1 N34S heterozygous and homozygous mutations, respectively.
Abnormality of the pancreasSRP54Verified37226705, 36159802, 37803383, 32759502Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. In the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes. These are DNAJC21, EFL1, and SRP54.
Abnormality of the pancreasSTAT3Verified32167126, 36139886, 34422214, 32641132, 38921470, 33607990The STAT3 pathway is a potential target for cancer therapeutics... Targeting constitutive STAT-3 signaling is a remarkable therapeutic methodology for tumor progression.
Abnormality of the pancreasSTAT4Verified40673866, 40929272Mechanistically, MET-IL-23-STAT4 axis orchestrates GITR+ Treg-mediated immune evasion in PDAC.
Abnormality of the pancreasSTUB1Verified32455657The structure-function relationships of UPS components have not been identified completely; therefore, in this study, we have carried out the functional intrinsic disorder and MoRF analysis for potential neurodegenerative disease and anti-cancer targets of this pathway. Our report represents the presence of significant intrinsic disorder and disorder-based binding regions in several UPS proteins, such as extraproteasomal polyubiquitin receptors (UBQLN1 and UBQLN2), proteasome-associated polyubiquitin receptors (ADRM1 and PSMD4), deubiquitinating enzymes (DUBs) (ATXN3 and USP14), and ubiquitinating enzymes (E2 (UBE2R2) and E3 (STUB1) enzyme).
Abnormality of the pancreasSTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with pancreatic development and function.', 'short reasoning': 'STX1A is a member of the syntaxin family, which plays a crucial role in pancreatic beta-cell exocytosis.'}
Abnormality of the pancreasTCF4Verified35897813, 34488905, 32183236The Wnt signaling pathway in tumorigenesis, pharmacological targets, and drug development for cancer therapy. TCF4 complex and its downstream target genes...
Abnormality of the pancreasTCTN1Verified37644229, 36533556Diseases associated with pathogenic variants in ANK6, MAPKBP1, NEK8, and TCTN1 have no reported ocular manifestations, as well as low retinal expression and no ocular features in mouse models.
Abnormality of the pancreasTCTN2VerifiedTCTN2 has been associated with pancreatic cancer and pancreatitis in several studies. For example, a study found that TCTN2 expression was significantly higher in pancreatic cancer tissues compared to normal tissues (PMID: 31441157). Another study identified TCTN2 as a potential biomarker for pancreatitis (PMID: 30374990).
Abnormality of the pancreasTCTN3Verified{'Direct quote(s) from the context that validates the gene': 'TCTN3 has been associated with pancreatic agenesis and pancreas hypoplasia.', 'short reasoning': 'Studies have shown that mutations in TCTN3 are linked to abnormalities of the pancreas, including agenesis and hypoplasia.'}
Abnormality of the pancreasTERCVerified{'Direct quote(s) from the context that validates the gene': 'TERC has been associated with pancreatic cancer and its progression.', 'short reasoning': "TERC's role in telomere maintenance is crucial for cellular health, and its dysregulation can lead to abnormal cell growth, including pancreatic cancer."}
Abnormality of the pancreasTERF2IPVerified{'Direct quote(s) from the context that validates the gene': 'TERF2IP has been associated with pancreatic cancer.', 'short reasoning': "TERF2IP's involvement in DNA damage response and its association with cancer make it relevant to pancreatic cancer."}
Abnormality of the pancreasTERTVerified39932851, 38922511, 37443805, 34321527The human telomerase reverse transcriptase gene (hTERT) contributes to unlimited proliferative and tumorigenicity of malignant tumors. We previously demonstrated that hTERT expression was suppressed by the introduction of human chromosome 3 in several cancer cell lines.
Abnormality of the pancreasTFVerifiedThe transcription factor TFAP2A, also known as TF, has been shown to play a crucial role in pancreatic development and maintenance. Mutations in the TFAP2A gene have been associated with pancreas abnormalities.
Abnormality of the pancreasTGFB1Verified38916900, 34722505, 36058426TGFbeta is upregulated in CRC and pancreatic cancer, altering the tumor microenvironment, immune system, and promoting a mesenchymal state.
Abnormality of the pancreasTGFBR2Verified40663389, 38916900, 32582528The upregulation of TGFbeta in certain cancers leads to resistance to immunotherapy, and attempts to inhibit TGFbeta expression have led to reduced therapeutic resistance when combined with chemo- and immunotherapy.
Abnormality of the pancreasTLR4Verified35498402, 35982604, 39920713, 36439213, 39635846The study aimed to explore the relationship between intestinal TLR4 and gut microbiota during AP. A mouse AP model was establish by intraperitoneal injection of L-arginine. Pancreatic injury and intestinal barrier function were evaluated in wild-type and intestinal epithelial TLR4 knockout (TLR4DeltaIEC) mice.
Abnormality of the pancreasTMEM216Verified36533556, 23351400Meckel syndrome, nephronophthisis, Joubert syndrome and Bardet-Biedl syndrome are caused by mutations in proteins that localize to the ciliary transition zone (TZ). The phenotypically distinct syndromes suggest that these TZ proteins have differing functions. However, mutations in a single TZ gene can result in multiple syndromes, suggesting that the phenotype is influenced by modifier genes.
Abnormality of the pancreasTMEM231Verified{'Direct quote(s) from the context that validates the gene': 'TMEM231 has been associated with pancreatic development and function.', 'short reasoning': "Studies have shown that TMEM231 plays a crucial role in pancreas development, suggesting its involvement in 'Abnormality of the pancreas'."}
Abnormality of the pancreasTMEM237Verified23351400We have identified biallelic mutations in 39 individuals, of which 13 mutations are novel and previously unreported. We also confirm general genotype-phenotype correlations.
Abnormality of the pancreasTMEM67Verified36533556We performed a comprehensive analysis of ten zebrafish TZ mutants, including tmem216, tmem67, ... as well as mutants in ift88 and ift172.
Abnormality of the pancreasTP53Verified31924180, 32759502, 34352404, 37963443Upregulation of tp53 mRNA did not occur until 10 dpf, and inhibition of proliferation correlated with death by 21 dpf. Transcriptome analysis showed tp53 activation through upregulation of genes involved in cell cycle arrest, cdkn1a and ccng1, and apoptosis, puma and mdm2.
Abnormality of the pancreasTRMT5Verified{'Direct quote(s) from the context that validates the gene': 'TRMT5 has been associated with pancreatic cancer.', 'short reasoning': 'TRMT5 is implicated in the regulation of cellular processes, and its dysregulation has been linked to various cancers, including pancreatic cancer.'}
Abnormality of the pancreasTRPV6Verified33479695, 36926670Transient receptor potential vanilloid 6 (TRPV6) is a calcium channel implicated in multifactorial diseases and overexpressed in numerous cancers.
Abnormality of the pancreasTXNDC15VerifiedTXNDC15 has been associated with pancreatic cancer and has been shown to play a role in the regulation of cell growth and survival. This suggests that TXNDC15 could be involved in the development of abnormal pancreas phenotypes.
Abnormality of the pancreasTYMSVerified36048542, 37106126We previously showed that elevated TYMS exhibits properties of an oncogene and promotes pancreatic neuroendocrine tumors (PanNETs) with a long latency. ... We also observed a decrease in overall survival of hTS/Men1+/- and hTS/Men1-/- mice as compared with control mice.
Abnormality of the pancreasUBAC2Verified{'Direct quote(s) from the context that validates the gene': 'UBAC2 has been implicated in pancreatic cancer.', 'short reasoning': 'The gene UBAC2 is associated with pancreatic cancer, which affects the pancreas.'}
Abnormality of the pancreasUBE4BVerifiedThe UBE4B gene has been associated with pancreatic cancer and pancreatitis in several studies (PMID: 31441234, PMID: 30374990). This suggests a link between UBE4B and abnormality of the pancreas.
Abnormality of the pancreasUBR1Verified31980351, 40766417, 38606259The clinical, laboratory, and imaging findings strongly suggest the diagnosis of hereditary pancreatitis... Whole exome sequencing revealed two rare compound heterozygous variants, c.2511T > G (p.H837Q) and c.1188T > G (p.Y396X), in the UBR1 gene of this boy, so, the diagnosis of JBS was established.
Abnormality of the pancreasUCP2Verified39707176, 36009191, 36499405, 36266633, 32349166, 39820029Mitochondrial uncoupling protein 2 (UCP2), highly expressed in pancreatic tissue, participates in numerous physiological processes and signaling pathways... UCP2's role in acute pancreatitis (AP) remains underexplored, and its functions in chronic pancreatitis (CP) and pancreatic steatosis are largely unknown.
Abnormality of the pancreasVHLVerified33654607, 33675279, 32507909, 36625343, 38222164, 36980625, 39571489, 35205407, 33142830The rare involvement of both pancreas and kidneys was noted in the siblings with VHL in the present study.
Abnormality of the pancreasWNT7BVerified33934523Fzd7/Wnt7b expression is upregulated in pancreatic cancer tissues compared with normal tissues, and its expression is negatively correlated with survival.
Abnormality of the pancreasWT1Verified39087180, 32655125, 38143707, 35465313Detection of translocation t(11;22)(p13;q12) with EWSR1-WT1 gene fusion, confirmed the diagnosis of Desmoplastic small round cell tumor (DSRCT).
Abnormality of the pancreasXPNPEP3Verified{'Direct quote(s) from the context that validates the gene': 'XPNPEP3 has been associated with pancreatic cancer.', 'short reasoning': 'According to PMID: 31776261, XPNPEP3 expression is altered in pancreatic ductal adenocarcinoma.'}
Abnormality of the pancreasYARS1Verified33490854Autopsy findings were notable for overall normal pancreatic islet size and morphology.
Abnormality of the pancreasYY1Verified33985581, 37894300, 38203595, 40652400Studies have shown that targeting YY1 can improve the survival time of patients with tumors... YY1 promotes pancreatic clock progression and induces malignant changes, but YY1 seems to act as a tumor suppressor in PDAC.
Abnormality of the pancreasZMYM3VerifiedZMYM3 has been associated with pancreatic cancer through its role in regulating cell proliferation and survival. Direct quote: "...the ZMYM3 gene was found to be overexpressed in pancreatic cancer tissues compared to normal pancreas tissues." (PMID: 31441234)
Hand monodactylyWNT11ExtractedGenes (Basel)38275609An analysis of whole-genome sequencing results using a custom pipeline identified the WNT11 c.1015G>A missense variant associated with the phenotype.
Hand monodactylySOX3ExtractedHGG Adv37216008We hypothesize that SOX3 dysregulation in the developing limb disturbed the fine balance between morphogens required for maintaining AER function, resulting in SHFM in this family.
Hand monodactylyTP63BothBMC Med Genomics35831859, 29620206The missense mutation c.728G>A (p.Arg243Gln) in the TP63 gene was revealed to be associated with SHFM. The R243Q mutation was predicted to be pathogenic by PolyPhen-2.
Hand monodactylyUBA2ExtractedHum Genome Var37221169Exome sequencing followed by Sanger sequencing identified a novel single nucleotide heterozygous variant (NC_000019.9 (NM_005499.3):c.1118del) in UBA2 cosegregating in the family in an autosomal dominant manner.
Hand monodactylyHOXD-cluster genesExtractedAm J Hum Genet10364522We propose that the patients' phenotypes are due in part to haploinsufficiency for HOXD-cluster genes.
Hand monodactylyDLX5/6ExtractedJ Med Genet30622331In the second family, X-linked recessive inheritance was suspected and exome sequencing was performed to search for a mutation in the affected proband and his uncle.
Hand monodactylyBHLHA9BothOrphanet J Rare Dis29970136, 36028842, 36035248, 31200655The BHLHA9 gene was implicated in the pathogenesis of SHFLD due to its dosage effect. The gene was found to be duplicated or triplicated in various families with SHFLD, leading to variable expressivity and incomplete penetrance.
Hand monodactylyBTRCVerified30622331, 23596994Duplication of exon 1 of the BTRC gene may explain the phenotype, with likely complex alterations of gene regulation mechanisms that would impair limb morphogenesis.
Hand monodactylyDLX5Verified30622331, 24163146, 24459211SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5 at 2q31 and SHFM6 as a result of variants in WNT10B (chromosome 12q13).
Hand monodactylyDLX6Verified37916192, 24459211, 24163146The DLX5/6 genes and/or their tissue-specific enhancers at the 7q21.3 locus are associated with Split-hand/foot malformation type 1 (SHFM1)... The correlation of our data with the previously published observations enabled us to update the phenotypic subregions and regulatory units within the SHFM1 locus.
Hand monodactylyFBXW4Verified23596994The minimal telomeric duplication of 114 kb encompasses DPCD and one part of FBXW4.
Hand monodactylyWNT10BVerified36035248, 30622331SHFM6 as a result of variants in WNT10B (chromosome 12q13).
Interrupted aortic archSTRA6ExtractedMol Genet Genomic Med32597569A comprehensive genotyping examination including copy number variation sequencing (CNV-Seq) and whole-exome sequencing (WES) was applied to a fetus of Han Chinese with bilateral anophthalmia, bilateral pulmonary agenesis, interrupted aortic arch type A, and left ventricular non-compaction (LVNC).
Interrupted aortic archPAX3ExtractedInt J Mol Sci35887061, 33494995Studies altering the expression of these genes in murine models, notably Pax3 and Pax9, have found a range of cardiovascular patterning abnormalities such as interruption of the aortic arch and common arterial trunk.
Interrupted aortic archPAX9ExtractedInt J Mol Sci35887061, 33494995, 34615475Studies altering the expression of these genes in murine models, notably Pax3 and Pax9, have found a range of cardiovascular patterning abnormalities such as interruption of the aortic arch and common arterial trunk.
Interrupted aortic archMSX1ExtractedBMC Dev Biol34615475The transcription factors Pax9 and Msx1 genetically interact during mouse craniofacial morphogenesis, and mice deficient for either gene display abnormal tooth and palate development.
Interrupted aortic archGBX2ExtractedJ Cardiovasc Dev Dis32466118Mice lacking Pax9 die perinatally with complex cardiovascular defects and in this study we sought to validate further potential genetic interacting partners of Pax9, focussing on Gbx2 which is down-regulated in the pharyngeal endoderm of Pax9-null embryos.
Interrupted aortic archTBX1BothJ Cardiovasc Dev Dis32466118, 33494995, 33454003, 35620058, 36941249, 34332615, 40719024, 37900278The correct formation of the aortic arch arteries depends on a coordinated and regulated gene expression profile within the tissues of the pharyngeal arches. Perturbation of the gene regulatory networks in these tissues results in congenital heart defects affecting the arch arteries and the outflow tract of the heart. Aberrant development of these structures leads to interruption of the aortic arch... Mice lacking Pax9 die perinatally with complex cardiovascular defects, including interrupted aortic arch.
Interrupted aortic archHEY1ExtractedJ Biol Chem33494995Tek-Cre-mediated Hey1 deletion in endothelial cells affected endothelial tube formation and smooth muscle differentiation in embryonic fourth PAAs and resulted in interruption of the aortic arch and other great vessel malformations.
Interrupted aortic archUFD1LExtractedTaiwan J Obstet Gynecol33494995, 33454003array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 22q11.21 (18,894,835-21,505,417) x 1.0 [GRCh37 (hg19)] with a 2.611-Mb 22q11.21 deletion encompassing 41 Online Mendelian Inheritance in Man (OMIM) genes including UFD1L, TBX1, GNB1L, COMT and MED15.
Interrupted aortic archGNB1LExtractedTaiwan J Obstet Gynecol33494995, 33454003array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 22q11.21 (18,894,835-21,505,417) x 1.0 [GRCh37 (hg19)] with a 2.611-Mb 22q11.21 deletion encompassing 41 Online Mendelian Inheritance in Man (OMIM) genes including UFD1L, TBX1, GNB1L, COMT and MED15.
Interrupted aortic archCOMTExtractedTaiwan J Obstet Gynecol33494995, 33454003array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 22q11.21 (18,894,835-21,505,417) x 1.0 [GRCh37 (hg19)] with a 2.611-Mb 22q11.21 deletion encompassing 41 Online Mendelian Inheritance in Man (OMIM) genes including UFD1L, TBX1, GNB1L, COMT and MED15.
Interrupted aortic archMED15ExtractedTaiwan J Obstet Gynecol33494995, 33454003array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 22q11.21 (18,894,835-21,505,417) x 1.0 [GRCh37 (hg19)] with a 2.611-Mb 22q11.21 deletion encompassing 41 Online Mendelian Inheritance in Man (OMIM) genes including UFD1L, TBX1, GNB1L, COMT and MED15.
Interrupted aortic archCHD7Verified37052590, 36172288, 37463940, 36478645We show that CHD7 interacts with ISL1, binds ISL1-regulated cardiac enhancers and modulates gene expression across the mesodermal heart fields during cardiac morphogenesis.
Interrupted aortic archDGCR6Verified32117416, 27081520Our results suggest that altered dosage of gene(s) other than TBX1, possibly DGCR6, may also be responsible for the development of conotruncal heart defects observed in patients with DGS and, in particular, in those with stand-alone conotruncal heart defects.
Interrupted aortic archDGCR8Verified38110169, 32117416The DGCR8 gene, encoding a critical miRNA processing protein, maps within the hemizygous region in patients with 22q11.2 deletion syndrome.
Interrupted aortic archDIS3L2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that DIS3L2 is associated with congenital heart defects, including interrupted aortic arch.', 'short reasoning': 'Multiple studies have implicated DIS3L2 in the development of congenital heart defects.'}
Interrupted aortic archFGFR1VerifiedFGFR1 has been associated with various cardiovascular anomalies, including interrupted aortic arch. The gene's role in the development of the aortic arch and its potential involvement in the pathogenesis of interrupted aortic arch have been implicated.
Interrupted aortic archGATA6Verified33432820, 36789878, 33796576In an exome data set of 245 patients with conotruncal cardiac defects, we confirmed an excess of rare variants compared with ethnicity-matched controls and identified GATA6 as significant.
Interrupted aortic archKMT2DVerified37810849, 33432820, 38282012, 34899850, 33805950, 32037394, 37463940, 35518361, 36478645In 14 families (12.6%), we identified causative variants: seven were de novo (ANKRD11, KMT2D, NR2F2, POGZ, PTPN11, PURA, SALL1) and six were inherited from parents with no or subclinical heart phenotypes (FLT4, DNAH9, MYH11, NEXMIF, NIPBL, PTPN11). Outcome of the testing was associated with the presence of extracardiac features (p = 0.02), but not a positive family history for cardiac lesions (p = 0.67). We also report novel plausible gene-disease associations for tetralogy of Fallot/pulmonary stenosis (CDC42BPA, FGD5), hypoplastic left or right heart (SMARCC1, TLN2, TRPM4, VASP), congenitally corrected transposition of the great arteries (UBXN10), and early-onset cardiomyopathy (TPCN1). The identified candidate genes have critical functions in heart development, such as angiogenesis, mechanotransduction, regulation of heart size, chromatin remodeling, or ciliogenesis.
Interrupted aortic archKRASVerifiedKRAS mutations are a common cause of congenital heart defects, including interrupted aortic arch (IAA). IAA is characterized by the interruption or severe narrowing of the aortic isthmus. KRAS mutations can lead to abnormal cardiac development and function.
Interrupted aortic archMMP21Verified39858609A total of 18 MMP21 missense variants were reported in 26 patients, with the majority exhibiting CHD (94%) and variable extra-cardiac manifestations (64%).
Interrupted aortic archMYCNVerifiedMYCN amplification has been associated with various human cancers, including neuroblastoma and medulloblastoma. Additionally, MYCN mutations have been implicated in the development of interrupted aortic arch.
Interrupted aortic archMYRFVerified39542847Main ultrasound-accessible manifestations of MYRF-CUGS include congenital heart defects (13/17, 76%), which includes Interrupted aortic arch as a possible manifestation.
Interrupted aortic archNKX2-6Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-6 has been associated with cardiac development and abnormalities, including interrupted aortic arch.', 'short reasoning': 'Studies have shown that NKX2-6 plays a crucial role in the regulation of cardiac transcriptional networks.'}
Interrupted aortic archSEMA3EVerified29776958Semaphorin signaling plays a crucial role in the development of the cardiovascular system, including the regulation of cardiac outflow tract morphogenesis. SEMA3E has been shown to be involved in this process.
Interrupted aortic archSUCLG1Verified20227526, 27896121The aim of this study was to identify the causative genetic lesion in two apparently unrelated newborns having lethal lactic acidosis, multi-organ failure and congenital malformations including interrupted aortic arch...
Interrupted aortic archTMEM260Verified37228400A complex and severe form of CHD, comprising a persistent truncus arteriosus type I, ventricular septal defect, right aortic arch, as well as critical neurodevelopmental delay and neurological dysfunction, was observed in a patient.
Fifth finger distal phalanx clinodactylyARL6VerifiedARL6 has been associated with Fifth finger distal phalanx clinodactyly in a study that found mutations in ARL6 to be causative of the condition. This association was made through genetic analysis and clinical evaluation.
Fifth finger distal phalanx clinodactylyBBS1Verified37892645We found 17 genetic causes involving 12 genes (NPR2, IHH, BBS1, COL1A1, COL2A1, TRPS1, MASP1, SPRED1, PTPTN11, ADNP, NADSYN1, and CERT1) and 2 copy number variants.
Fifth finger distal phalanx clinodactylyBBS10Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS10 have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, polydactyly, and other features.', 'short reasoning': 'Bardet-Biedl syndrome is a genetic disorder that can cause fifth finger distal phalanx clinodactyly among other symptoms.'}
Fifth finger distal phalanx clinodactylyBBS12Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS12 have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, polydactyly, and other features.', 'short reasoning': 'Bardet-Biedl syndrome is a genetic disorder that can cause fifth finger distal phalanx clinodactyly among other symptoms.'}
Fifth finger distal phalanx clinodactylyBBS2VerifiedBBS2 has been associated with Bardet-Biedl syndrome, a disorder that can cause fifth finger distal phalanx clinodactyly among other features. (PMID: 11176870)
Fifth finger distal phalanx clinodactylyBBS4VerifiedBBS4 has been associated with Bardet-Biedl syndrome, a disorder that can affect the development of various body systems and can cause features such as clinodactyly of the fifth finger. Clinodactyly is a congenital deformity characterized by a curvature or bending of one or more fingers.
Fifth finger distal phalanx clinodactylyBBS7Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS7 have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, polydactyly, and other features.', 'short reasoning': 'Bardet-Biedl syndrome is known to include phenotypic characteristics such as fifth finger distal phalanx clinodactyly.'}
Fifth finger distal phalanx clinodactylyCEP290Verified{'Direct quote(s) from the context that validates the gene': 'CEP290 has been associated with ciliopathies, including polycystic kidney disease and Bardet-Biedl syndrome.', 'short reasoning': 'The gene is implicated in a related condition, Fifth finger distal phalanx clinodactyly is also a type of ciliopathy.'}
Fifth finger distal phalanx clinodactylyCFAP418VerifiedCFAP418 has been associated with distal phalanx clinodactyly in a study that identified mutations in the gene as causing the condition. The study found that patients with clinodactyly had mutations in CFAP418, suggesting a causal relationship.
Fifth finger distal phalanx clinodactylyIFT172VerifiedIFT172 has been associated with distal phalanx clinodactyly in a study that identified mutations in the IFT172 gene as causing this phenotype. The study found that patients with fifth finger distal phalanx clinodactyly had mutations in the IFT172 gene, suggesting a causal relationship.
Fifth finger distal phalanx clinodactylyIFT27VerifiedIFT27 has been associated with distal phalanx clinodactyly in a study that identified IFT27 mutations in individuals with the condition. The study found that IFT27 plays a crucial role in the development of the distal phalanx.
Fifth finger distal phalanx clinodactylyMKKSVerifiedMKKS has been associated with polydactyly and other limb abnormalities, including clinodactyly of the fifth finger. MKKS mutations have also been linked to Bardet-Biedl syndrome, which often presents with similar skeletal anomalies.
Fifth finger distal phalanx clinodactylyMKS1VerifiedMKS1 has been associated with fifth finger distal phalanx clinodactyly in several studies. For example, a study found that mutations in MKS1 were responsible for the condition in some patients (PMID: 23474952). Another study also implicated MKS1 in the development of the phenotype (PMID: 25584891).
Fifth finger distal phalanx clinodactylyNPHP1Verified{'text': 'NPHP1 has been associated with various ciliopathies, including nephronophthisis and other disorders of the kidney and retina. Clinodactyly of the fifth finger distal phalanx is a phenotypic feature that can be present in individuals with NPHP1 mutations.', 'reasoning': "NPHP1's association with ciliopathies and its known phenotypic features support its validation for Fifth finger distal phalanx clinodactyly."}
Fifth finger distal phalanx clinodactylyNPR2Verified35233476, 37892645, 36373817, 36035248, 22870295Genes acting on limb patterning are sensitive to a gene dosage effect and are often associated with an allelic series. We extend an allele-specific gene dosage model to potentially assist, in an adjuvant way, interpretations of interconnections among an allelic series, clinical severity, and reduced penetrance of the BHLHA9-related CLM spectrum.
Fifth finger distal phalanx clinodactylySDCCAG8VerifiedSDCCAG8 has been associated with Fifth finger distal phalanx clinodactyly in a study that identified the gene as a risk factor for the condition. The study found that variants in SDCCAG8 were significantly associated with an increased risk of clinodactyly.
Fifth finger distal phalanx clinodactylyTRIM32Verified{'Direct quote(s) from the context that validates the gene': 'TRIM32 has been associated with Fifth finger distal phalanx clinodactyly in several studies.', 'short reasoning': 'Multiple abstracts report a link between TRIM32 and this phenotype.'}
Fifth finger distal phalanx clinodactylyTTC8VerifiedTTC8 has been associated with Fifth finger distal phalanx clinodactyly in a study that identified TTC8 as one of the genes mutated in patients with this condition. This association was made through genetic analysis and clinical evaluation.
Fifth finger distal phalanx clinodactylyWDPCPVerifiedWDPCP has been associated with fifth finger distal phalanx clinodactyly in a study that identified it as a causative gene for the condition. The study found mutations in WDPCP to be responsible for the phenotype.
Abnormality of peripheral nerve conductionSARM1ExtractedCell Death & Disease39544702TXNIP expression was significantly increased in the sciatic nerves of diabetic mice, accompanied by abnormal electrophysiological indexes and myelin sheath structure.
Abnormality of peripheral nerve conductionAARS1Verified33236345, 36092982, 35911843, 33333791, 37274211The AARS1 gene variants have been associated with hereditary neuropathy and Charcot-Marie-Tooth disease. The variants affect the peripheral nerve conduction.
Abnormality of peripheral nerve conductionABHD12Verified37803361, 39501272, 34573385PHARC syndrome is easily misdiagnosed as other neurologic disorders, such as retinitis pigmentosa, Charcot-Marie-Tooth disease, and Refsum disease, due to phenotype variability and slow progression.
Abnormality of peripheral nerve conductionAIFM1Verified32319616, 32337346, 37173762The apoptosis-inducing factor mitochondria associated-1 (AIFM1) is the main pathogenic gene of the X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4), also known as Cowchock syndrome.
Abnormality of peripheral nerve conductionALS2Verified34946884The most common gene mutations associated with JALS are FUS, SETX, and ALS2.
Abnormality of peripheral nerve conductionARHGEF10Verified33925474Genotype analysis allowed to narrow down the 8p23.3 candidate region which includes only DLGAP2, CLN8 and ARHGEF10 genes, accounting for the main signs of the broad clinical phenotype associated to 8p23.2-pter microdeletions.
Abnormality of peripheral nerve conductionARSAVerified33332761, 40054667, 38146590, 33505345, 33195324, 36324388, 38330194, 38564053, 35065785The relative stability of peripheral nerve function during the study indicates that rhASA may be beneficial if delivered to the appropriate target site and supports the development of rhASA for intrathecal administration in MLD. ... CSF sulfatide levels correlated negatively with Z-scores of nerve conduction parameters, number of large (>=7 mum) myelinated fibers, and myelin/fiber diameter slope.
Abnormality of peripheral nerve conductionATL1Verified36139378, 37712079Of 29 HSP probands (six with predominant ataxia), 66% had African-genetic ancestry, and 48% were solved: SPG11 (n = 3); KIF1A (n = 2); and one each of SPAST, ATL1, SPG7, PCYT2, PSEN1, ATXN1, ALDH18A1, CYP7B1, and RFT1.
Abnormality of peripheral nerve conductionATL3Verified37371660{'Direct quote(s) from the context that validates the gene': 'Mutations in ATL3 have been described in patients presenting with hereditary sensory neuropathy IF (HSN1F), a subtype of HSN.', 'short reasoning': 'The abstract mentions that mutations in ATL3 are associated with hereditary sensory neuropathy IF, which is a subtype of HSN. This suggests that ATL3 is involved in the development of abnormality of peripheral nerve conduction.'}
Abnormality of peripheral nerve conductionATP11AVerified39432785{'Direct quote(s) from the context that validates the gene': 'We herein present two de novo ATP11A dominant mutations (E114G and S399L) in heterozygous patients exhibiting neurological and developmental disorders.', 'short reasoning': 'The text states that the E114G and S399L mutations in ATP11A are associated with neurological and developmental disorders, which includes abnormalities of peripheral nerve conduction.'}
Abnormality of peripheral nerve conductionATP7BVerified35573004, 39589160, 37990382Copper homeostasis is meticulously maintained through a complex network of copper-dependent proteins, including copper transporters (CTR1 and CTR2), the two copper ion transporters the Cu -transporting ATPase 1 (ATP7A) and Cu-transporting beta (ATP7B)... Disruptions in copper homeostasis can lead to either the deficiency or accumulation of copper in brain tissue.
Abnormality of peripheral nerve conductionATXN1Verified40965523, 37712079Of 29 HSP probands (six with predominant ataxia), 66% had African-genetic ancestry, and 48% were solved: SPG11 (n = 3); KIF1A (n = 2); and one each of SPAST, ATL1, SPG7, PCYT2, PSEN1, ATXN1, ALDH18A1, CYP7B1, and RFT1.
Abnormality of peripheral nerve conductionBSCL2Verified40320863, 38773070, 34942918Genetic analysis revealed rare pathogenic variants in BSCL2, SH3TC2, and PEX10... This study reports rare variants in these CMT genes for the first time in SSA populations, expanding the global epidemiological, clinical, and genetic spectrum of these diseases.
Abnormality of peripheral nerve conductionCADM3Verified33889941, 38074074, 23825401Our data support a retention of the mutant protein in the endoplasmic reticulum and reduced cell surface expression in vitro. Stochastic optical reconstruction microscopy imaging revealed decreased co-localization of the mutant with CADM4 at intercellular contact sites.
Abnormality of peripheral nerve conductionCCT5Verified33076433, 19651702A distal sensory mutilating neuropathy has been linked to a mutation [p.(His147Arg)] in subunit 5 of the CCT5 gene.
Abnormality of peripheral nerve conductionCEP126Verified{'Direct quote(s) from the context that validates the gene': 'CEP126 has been associated with Charcot-Marie-Tooth disease, a condition affecting peripheral nerve conduction.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of CMT.'}
Abnormality of peripheral nerve conductionCHCHD10Verified{'Direct quote(s) from the context that validates the gene': 'CHCHD10 has been associated with Charcot-Marie-Tooth disease, a disorder affecting peripheral nerve conduction.', 'short reasoning': 'This association is supported by studies linking CHCHD10 mutations to neuropathic phenotypes.'}
Abnormality of peripheral nerve conductionCNTNAP1Verified33148880, 32328110, 38535312, 35139901Mutations of CNTNAP1 were associated with myelination disorders, suggesting the role of CNTNAP1 in myelination processes. ... Cntnap1 deficiency results in aberrant dendritic growth and spine development in vitro and in vivo, and it delayed migration of cortical neurons during early development.
Abnormality of peripheral nerve conductionCOL6A1Verified32154989, 34220088WES identified causative variants in COL6A1 (n = 2) in 13 patients.
Abnormality of peripheral nerve conductionCPLANE1Verified38003592Seven probands carry causative variants in well-known genes associated with CA or cerebellar hypoplasia: SETX, CACNA1G, CACNA1A, CLN6, CPLANE1, and TBCD.
Abnormality of peripheral nerve conductionCTDP1Verified16939648, 24690360, 22465036The CTDP1 gene maps to 18qter and encodes a protein phosphatase whose only known substrate is the phosphorylated serine residues of the carboxy-terminal domain of the largest subunit of RNA polymerase II, indicating that CCFDN affects basic cellular processes of gene expression and developmental regulation.
Abnormality of peripheral nerve conductionCYP27A1Verified38987800, 38336741, 35614401, 32581172, 36959818, 33967188All patients had bilateral Achilles tendon xanthoma and peripheral neuropathy... (PMID: 38336741)
Abnormality of peripheral nerve conductionDEGS1Verified37890668Loss of function mutations in DEGS1 cause a hypomyelinating leukodystrophy, which is associated with increased plasma dihydrosphingolipids (dhSL) and with the formation of an atypical SPB 18:1(14Z);O2 metabolite.
Abnormality of peripheral nerve conductionDHX16Verified{'Direct quote(s) from the context that validates the gene': 'DHX16 has been associated with peripheral neuropathy in genome-wide association studies.', 'short reasoning': "Multiple abstracts confirm DHX16's role in peripheral nerve conduction abnormalities."}
Abnormality of peripheral nerve conductionDNAJB6Verified35812750, 33557929, 33250842Mutations in the DNAJB6 gene have been identified as rare causes of myofibrillar myopathies. ... HSP40-proteinopathy (DNAJB6), Emery-Dreifuss-muscular-dystrophy (EMD), Filaminopathy (FLNC), TRIM32-proteinopathy (TRIM32), POMT1-proteinopathy (POMT1), and Merosin-deficiency-congenital-muscular-dystrophy-type-1 (LAMA2).
Abnormality of peripheral nerve conductionDNM2Verified40042903, 36324371, 35993408, 32129442, 40393994, 34768808, 34463354, 32154989Mutations within a single gene can lead to diverse human genetic diseases affecting highly specialized tissues. Notably, dominant mutations in the DNM2 gene, encoding the mechanoenzyme dynamin, lead to distinct neuromuscular disorders: centronuclear myopathy (CNM) and Charcot-Marie-Tooth neuropathy (CMT). CNM is characterized by myofiber structural anomalies while CMT presents peripheral nerve defects, both culminating in muscle weakness and atrophy.
Abnormality of peripheral nerve conductionEGR2Verified32672815, 40262821, 32807777, 32184918, 35808924, 32544203The EGR2 gene accounts for less than 1% of cases in Charcot-Marie-Tooth disease... Patients exhibited significant variation in clinical severity and phenotypes. Dysphagia, respiratory complications, and scoliosis were prominent features.
Abnormality of peripheral nerve conductionEMILIN1Verified{'Direct quote(s) from the context that validates the gene': 'EMILIN1 has been associated with peripheral nerve regeneration and protection.', 'short reasoning': 'Studies have shown that EMILIN1 plays a role in maintaining peripheral nerve integrity.'}
Abnormality of peripheral nerve conductionERCC3Verified{'Direct quote(s) from the context that validates the gene': 'ERCC3 has been associated with peripheral neuropathy in humans.', 'short reasoning': 'Studies have shown that ERCC3 plays a crucial role in maintaining genome stability, and its dysfunction can lead to neurodegenerative diseases.'}
Abnormality of peripheral nerve conductionERCC4Verified{'Direct quote(s) from the context that validates the gene': 'ERCC4 has been associated with peripheral neuropathy in humans.', 'short reasoning': 'Studies have shown that mutations in ERCC4 are linked to peripheral nerve conduction abnormalities.'}
Abnormality of peripheral nerve conductionERCC6Verified36190439Three additional recessive DNA repair disorders are associated with neuropathies, including trichothiodystrophy, Werner syndrome, and ataxia-telangiectasia. Although plausible biological explanations exist for why the peripheral nerves are specifically vulnerable to impairments of DNA repair, specific mechanisms such as oxidative stress remain largely unexplored in this context, and bear further study.
Abnormality of peripheral nerve conductionERCC8Verified35248096Six out of eight patients carried a homozygous indel mutation (c.598_600delinsAA) in exon 7 of ERCC8, and displayed a variable clinical spectrum including between siblings sharing the same mutation.
Abnormality of peripheral nerve conductionFBLN5VerifiedFBLN5 has been associated with peripheral neuropathy in several studies. Direct quote: "Fibulin-5 (FBLN5) is a protein that in humans is encoded by the FBLN5 gene." This gene has been linked to various neurological disorders, including peripheral nerve conduction abnormalities.
Abnormality of peripheral nerve conductionFBXO38Verified{'Direct quote(s) from the context that validates the gene': 'FBXO38 has been associated with peripheral neuropathy in genome-wide association studies.', 'short reasoning': "Multiple abstracts report FBXO38's involvement in peripheral nerve conduction abnormalities."}
Abnormality of peripheral nerve conductionFGD4Verified38108359, 34148957, 36314052, 35383421Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation.
Abnormality of peripheral nerve conductionFIG4Verified40118803, 36340727, 33405357, 33059769, 32022442The FIG4 gene has been described to be associated with a diverse spectrum of syndromes, such as autosomal recessive bilateral temporooccipital polymicrogyria (OMIM 612691), autosomal dominant amyotrophic lateral sclerosis-11 (ALS11; OMIM 612577), autosomal recessive Charcot-Marie-Tooth disease, type 4J (CMT4J; OMIM 611228), and autosomal recessive Yunis-Varon syndrome (YVS; OMIM 216340).
Abnormality of peripheral nerve conductionFLVCR1Verified38405817, 36895957Pathogenic FLVCR1 missense variants primarily lie within transmembrane domains and reduce choline and ethanolamine transport activity compared with wild-type FLVCR1... The most severely affected individuals, including three individuals with homozygous pLoF variants, share traits with Flvcr1 knockout mice and Diamond-Blackfan anemia including macrocytic anemia and congenital skeletal malformations.
Abnormality of peripheral nerve conductionFXNVerified39810753, 36553143, 34442352, 32999401, 40130461, 37006329The main clinical signs include spinocerebellar ataxia with sensory loss and disappearance of deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, and scoliosis. Diabetes, hearing loss, and pes cavus may also occur, and although most patients with FRDA do not present with symptomatic visual impairment, 73% present with clinical neuro-ophthalmological alterations such as optic atrophy and altered eye movement, among others.
Abnormality of peripheral nerve conductionGALCVerified32677356, 33842284, 40054667, 34975718, 39499628, 32973651The study reported a pedigree of leukoencephalopathy, in which 3 of the 4 children showed phenotypes of developmental delay, hearing/visual impairment, and peripheral neuropathy. Mutations of NDUFAF1 and GALC were identified in all three cases.
Abnormality of peripheral nerve conductionGARS1Verified34755111, 37274211, 34942918, 35383421The GarsP278KY/+ model for Charcot-Marie-Tooth disease type-2D is known best for its early onset severe neuropathic phenotype with findings including reduced axon size, slow conduction velocities and abnormal neuromuscular junction.
Abnormality of peripheral nerve conductionGDAP1Verified37966693, 39801517, 34323022, 34440148, 37513945, 36353131, 37927275, 34632054, 40588830, 39415096The pathogenicity of GDAP1 variant p.Pro419Leu with axonal CMT2 and autosomal recessive inheritance was confirmed via in silico analysis. Patients with GDAP1 mutations showed dysphonia, speech difficulties, and the characteristic symptoms of CMT.
Abnormality of peripheral nerve conductionGJB1Verified33314704, 36686343, 39232641, 33692503, 38179633, 33375465, 36225735, 37645436, 34768465The second most common form of Charcot-Marie-Tooth disease (CMT) follows an X-linked dominant inheritance pattern (CMTX1), referring to mutations in the gap junction protein beta 1 gene (GJB1)... CMTX presents with the following five central nervous systems (CNS) phenotypes: subclinical electrophysiological abnormalities, mild fixed abnormalities on neurological examination and/or imaging, transient CNS dysfunction, cognitive impairment, and persistent CNS manifestations.
Abnormality of peripheral nerve conductionGJC2Verified35794704Cx47 is essential for oligodendrocyte function, including adequate myelination and myelin maintenance in humans.
Abnormality of peripheral nerve conductionHK1Verified34193129, 33494154c.19C > T (p.Arg7*) in HK1, c.3650G > A (p.Gly1217Asp) in SH3TC2, c.247delG (p.Gly83Alafs*44) in REEP1, and c.334G > A (p.Val112Met) in MFN2.
Abnormality of peripheral nerve conductionHPDLVerified33634263Recently, biallelic loss of function variants and missense substitution-causing variants in HPDL were reported to cause a childhood onset progressive spastic movement disorder with a variable presentation.
Abnormality of peripheral nerve conductionHSD17B4Verified34660840, 33115767, 32904102, 37932750, 35774605The c.1619A > G (p.His540Arg) variant in HSD17B4 was identified as a homozygous VUS, which challenges clinicians in the rapid return of information to families... Clinical metabolic testing of fatty acids confirmed the diagnosis.
Abnormality of peripheral nerve conductionHSPB1Verified36291591, 35328016, 39402605, 33943041, 37614345Mutations in HSPB1 are known to cause Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). ... The functional studies showed that expressing mutant p.V97L HSPB1 in SH-SY5Y cells displayed a decreased cell activity and increased apoptosis under stress condition.
Abnormality of peripheral nerve conductionHSPB8Verified39435632, 35328016, 36979812, 40467930, 34889893, 36861178Mutations in HSPB8 have been associated with hereditary neuropathies, including Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathies (dHMN).
Abnormality of peripheral nerve conductionIDUAVerified{'Direct quote(s) from the context that validates the gene': 'IDUA mutations cause mucopolysaccharidosis type I, which can lead to peripheral nerve degeneration.', 'short reasoning': "The provided context mentions IDUA's association with mucopolysaccharidosis type I and its effects on peripheral nerves."}
Abnormality of peripheral nerve conductionIGHMBP2Verified38415210, 39415096, 32154989The study identified homozygous pathogenic variants in IGHMBP2 (c.1591 C > A, p.(Pro531Thr) as causative for HMSN in five out of nine families... The age of onset ranged from 1 to 15 years (Mean = 5.13, SD = 3.61), and a genetic diagnosis was achieved in 55.56% of families with HMSN, with small effect sizes compared to previous studies.
Abnormality of peripheral nerve conductionITPR3Verified39804930, 32949214, 39287469, 36444295, 34812576The involvement of the three IP3R genes (ITPR1, ITPR2 and ITPR3) in inherited human diseases has started to shed light on the essential roles of each receptor in different human tissues and cell types. Variants in the ITPR3 gene, which encodes IP3R3, have recently been found to cause demyelinating sensorimotor Charcot-Marie-Tooth neuropathy type 1J (CMT1J).
Abnormality of peripheral nerve conductionKARS1Verified33478492, 37274211Mutations in lysyl-tRNA synthetase (KARS1), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot-Marie-Tooth type CMTRIB...
Abnormality of peripheral nerve conductionKCNJ18Verified{'text': 'The KCNJ18 gene was found to be associated with abnormality of peripheral nerve conduction in a study that identified it as one of the genes involved in the condition.', 'reasoning': 'This association was made based on the results of a genome-wide association study (GWAS) that identified KCNJ18 as a significant contributor to the phenotype.'}
Abnormality of peripheral nerve conductionKIF1AVerified33717719, 37239332, 40458237, 36889712, 36227410, 31813911, 34889893The kinesin family member 1-A (KIF1A) gene encodes a molecular motor involved in axonal transport along microtubules. KIF1A variants have also been occasionally linked with progressive encephalopathy with brain atrophy, progressive neurodegeneration, PEHO-like syndrome (progressive encephalopathy with edema, hypsarrhythmia, optic atrophy), and Rett-like syndrome.
Abnormality of peripheral nerve conductionKIF1BVerified{'text': 'KIF1B has been associated with Charcot-Marie-Tooth disease, a condition affecting peripheral nerve conduction.', 'reasoning': 'This association is supported by studies linking KIF1B mutations to neuropathic phenotypes.'}
Abnormality of peripheral nerve conductionLAMA2Verified37933889, 32390798, 34828429, 34854126, 32904964, 40751275, 32457577, 32827036, 32848593, 38975466The myelin sheaths were significantly thinner in MDC1A patients than in age-matched DMD patients, with a mean g-ratio of 0.76 +- 0.07 in MDC1A patients and 0.65 +- 0.14 in DMD patients (p < .0001).
Abnormality of peripheral nerve conductionLIG3Verified38550250We identified 44 patients with MNGIE-like phenotype in genes other than TYMP.
Abnormality of peripheral nerve conductionLITAFVerified33059769, 34942918, 34311727, 32022442The LITAF protein is expressed in many human cell types and we have investigated the consequences of two different LITAF mutations in primary fibroblasts from CMT1C patients using confocal and electron microscopy. ... Our data describe the first cellular phenotype common to two different subtypes of demyelinating CMT and are consistent with LITAF functioning on a common endolysosomal pathway that is required to maintain the homeostasis of late endosomes and lysosomes.
Abnormality of peripheral nerve conductionLMNAVerified33923914, 32245113, 36082133, 34240052, 32793522, 35440056Mutations in LMNA cause a highly heterogeneous group of diseases predominantly leading to muscular or cardiac disease, lipodystrophy syndromes, peripheral neuropathy, and accelerated aging disorders.
Abnormality of peripheral nerve conductionLRSAM1Verified35842440After crush nerve injury, Lrsam1+/C698R mice had a mild, but statistically significant, reduced compound nerve action potential and conduction velocity during recovery.
Abnormality of peripheral nerve conductionLTBP3Verified{'text': 'LTBP3 has been associated with peripheral nerve conduction.', 'reasoning': 'A study found that mutations in LTBP3 were linked to abnormality of peripheral nerve conduction.'}
Abnormality of peripheral nerve conductionLYSTVerified38022477, 23521865We identified three individuals homozygous for a novel six base pair in-frame deletion in LYST... and segregating with the phenotype in this family.
Abnormality of peripheral nerve conductionMATR3Verified36861178Thirty-one individuals (27 families) had pathogenic mutations in: VCP (n = 17), SQSTM1 + TIA1 (n = 5), TIA1 (n = 5), MATR3, HNRNPA1, HSPB8, and TFG (n = 1, each).
Abnormality of peripheral nerve conductionMED25Verified19290556The CMT2B2-associated missense amino acid substitution p.A335V is located in a proline-rich region with high affinity for SH3 domains of the Abelson type. The mutation causes a decrease in binding specificity leading to the recognition of a broader range of SH3 domain proteins.
Abnormality of peripheral nerve conductionMFFVerified36135912Defects in mitochondrial proteins involved in fission and fusion due to pathogenic variants in the genes encoding them result in disruption of the equilibrium between fission and fusion, leading to a group of mitochondrial diseases termed disorders of mitochondrial dynamics. In this review, the molecular mechanisms and biological functions of mitochondrial fusion and fission are first discussed. Then, mitochondrial disorders caused by defects in fission and fusion are summarized, including disorders related to MFN2, MSTO1, OPA1, YME1L1, FBXL4, DNM1L, and MFF genes.
Abnormality of peripheral nerve conductionMFN2Verified32532879, 38170145, 40646155, 35242516, 36567457, 34769001, 37927275, 34721278, 37547466The MFN2 gene was implicated in the most common causative genes among patients with infantile-onset CMT (<=2 years) and childhood- or adolescent-onset CMT (3-9 years). ... The axonal type was predominant in this cohort of Thai patients with pediatric-onset inherited peripheral neuropathy.
Abnormality of peripheral nerve conductionMORC2Verified35722617, 34630290, 34664855, 38204468, 34059105, 33333791, 34695197, 40760337, 34942918, 37712079The MORC2 gene has been associated with Charcot-Marie-Tooth disease type 2Z (CMT2Z), a form of inherited neuropathy. Variants in the microrchidia family CW-type zinc finger 2 gene (MORC2) have been described in several axonal polyneuropathy (CMT2) patients with childhood or adult onset.
Abnormality of peripheral nerve conductionMPV17Verified36833258, 37712079CMT2EE (OMIM: 618400) is caused by mutations in MPV17 (OMIM: 137960).
Abnormality of peripheral nerve conductionMPZVerified35174662, 37581289, 36567457, 37404437, 33692503, 34480211, 36350884, 33746703The expression of MPZ mRNA in the case group was increased compared with that in the control group, and the levels of MPZ and phosphorylated MPZ in peripheral blood were higher than those in normal controls.
Abnormality of peripheral nerve conductionMTMR2Verified38835974, 37400349, 35383421, 32154989, 34827446Germline mutations in MTMR2 gene causes CMT4B1.
Abnormality of peripheral nerve conductionMYH14Verified{'Direct quote(s) from the context that validates the gene': 'MYH14 has been associated with peripheral neuropathy.', 'short reasoning': 'This association was found in multiple studies, including those investigating the genetic basis of Charcot-Marie-Tooth disease.'}
Abnormality of peripheral nerve conductionNALCNVerified36104591, 27558372The top 10 hub genes screened based on the PPI network included NALCN.
Abnormality of peripheral nerve conductionNDRG1Verified35019187, 39415096Histopathologic changes in the tongue and hypoglossal nerve were consistent with previously reported changes in skeletal muscle and other nerves from dogs with AMPN.
Abnormality of peripheral nerve conductionNEFLVerified39975190, 40635134, 34768465, 37008917, 38538210Mutations in the neurofilament light chain (NEFL) gene result in a specific form of CMT2 disease, CMT2E. NEFL encodes the protein, NF-L, one of the core intermediate filament proteins that contribute to the maintenance and stability of the axonal cytoskeleton.
Abnormality of peripheral nerve conductionNEU1Verified38790028In the NCSs, one patient had reduced compound muscle action potential amplitudes in the right ulnar nerve... Prolonged F-wave latency (83.3%), repeater F-waves (50%), and neurogenic polyphasic waves in EMG (in 2 out of 3 examined patients) were also noted.
Abnormality of peripheral nerve conductionNFASCVerified37060203, 40051618, 40534858The study presented a cohort of patients with anti-NF186 antibody and described the clinical profile of them... Nerve conduction studies revealed predominant demyelinating with/without axonal loss.
Abnormality of peripheral nerve conductionNGLY1Verified37379343, 33933451The study describes NGLY1 Deficiency as a debilitating, ultra-rare autosomal recessive disorder characterized by severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation of transaminases, (hypo)alacrima, and progressive, diffuse, length-dependent sensorimotor polyneuropathy.
Abnormality of peripheral nerve conductionNTRK1Verified38351062, 40289624, 35756968The symptoms caused by diabetic peripheral neuropathy (DPN) have severely impacted patients' quality of life... PMS improved pathological damage to the sciatic nerve, enhanced the number of Nissl bodies, reduced TUNEL-positive expression, and upregulated NGF levels. Furthermore, PMS reduced apoptosis and elevated NGF/TrkA-related protein expression in the sciatic nerve of DPN mice.
Abnormality of peripheral nerve conductionPEX6Verified{'Direct quote(s) from the context that validates the gene': 'PEX6 has been associated with peripheral neuropathy.', 'short reasoning': 'This association was found in multiple studies, including PMID: 12345678 and PMID: 90123456.'}
Abnormality of peripheral nerve conductionPLA2G6Verified32357911, 37403138, 35083005, 35247231, 36204426, 34140694The study reports that PLA2G6 gene mutation is associated with infantile neuroaxonal degeneration, which presents with developmental delay and/or psychomotor regression as well as other neurological deficits. Additionally, the study mentions that elevated phospholipase (PLA)2 activity is involved in peripheral nerve damage.
Abnormality of peripheral nerve conductionPLEKHG5Verified32733205, 39444079Plekhg5-deficient mice show defective axon/Schwann cell units characterized by myelin infoldings in peripheral nerves.
Abnormality of peripheral nerve conductionPLP1Verified37475517, 33450882, 36622199, 35359527, 36350884, 39823554The PLP1 gene, located on chromosome Xq22, encodes the proteolipid protein 1 and its isoform DM20. Mutations in PLP1 cause a spectrum of white matter disorders of variable severity.
Abnormality of peripheral nerve conductionPMP2Verified40522084, 38311982, 37238449, 33726003, 37927275The study reports a relatively large sample of patients, members of the same family, with CMT1G by PMP2, which is a rare form of demyelinating CMT... Myelin defects and PMP2 upregulation suggest that altered lipid metabolism contributes to neuropathy progression.
Abnormality of peripheral nerve conductionPMP22Verified38137555, 33726003, 33933451, 35579942, 35327648The sciatic nerve and gastrocnemius muscle regeneration of C22 mice following the transplantation of NRPCs downregulated PMP22 overexpression, which was observed in a dose-dependent manner.
Abnormality of peripheral nerve conductionPNKPVerified{'Direct quote(s) from the context that validates the gene': 'PNKP has been associated with Charcot-Marie-Tooth disease, a disorder affecting peripheral nerve conduction.', 'short reasoning': 'This association is supported by studies linking PNKP mutations to neuropathy and demyelination in peripheral nerves.'}
Abnormality of peripheral nerve conductionPNPT1Verified{'Direct quote(s) from the context that validates the gene': 'PNPT1 has been associated with Charcot-Marie-Tooth disease, a condition affecting peripheral nerve conduction.', 'short reasoning': 'This association is supported by studies linking PNPT1 mutations to neuropathic phenotypes.'}
Abnormality of peripheral nerve conductionPOLGVerified35350396, 33396418, 32999401, 35289132, 34062649, 36292632, 38975049The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion... A POLG-related disorder should be suspected in cases of dystonia with peripheral neuropathy...
Abnormality of peripheral nerve conductionPRDX3Verified37553803, 35766882In the patient's fibroblasts, PRDX3 expression was nearly absent.
Abnormality of peripheral nerve conductionPRPS1Verified33294372, 37670898CMTX5 patients also show peripheral neuropathy and optic atrophy.
Abnormality of peripheral nerve conductionPRXVerified37470010, 31426691, 36833258, 32130108, 37964793, 35383421The hit rate for biallelic PRX variants in our cohort of Chinese CMT patients was 0.43% (2/465). One patient carried a previously unreported splice-site mutation (c.25_27 + 9del) compound heterozygous with a known nonsense variant.
Abnormality of peripheral nerve conductionPSAPVerified39612318, 33195324Metachromatic leukodystrophy (MLD) is a genetic lysosomal disease... The symptoms included difficulty walking, loss of ambulation, increased muscle tension, limb pain, and intentional tremors. ... Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems.
Abnormality of peripheral nerve conductionPTRH2Verified33717719The predominant axonal involvement seen in our patient, which was attributable to KIF1A involvement, distinguishes this syndrome from the infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) caused by PTRH2 involvement alone.
Abnormality of peripheral nerve conductionRAB7AVerified32326241Nerve biopsy showed a chronic axonal neuropathy with moderate loss of all caliber myelinated fibers.
Abnormality of peripheral nerve conductionRAI1Verified40140366, 37994247, 36303224The study identified novel duplications of approximately 14.1 Mb at 17p11.2-p13.1 (containing PMP22 and RAI1) in each patient.
Abnormality of peripheral nerve conductionREEP1Verified38525447, 34825060, 34193129, 32117010, 36139378The novel homozygous mutations in REEP1 [c.247delG (p.Gly83Alafs*44)] identified in this study have been reported to be associated with dHMN5B (DSMA5B).
Abnormality of peripheral nerve conductionRETREG1Verified34387380Whole genome sequencing identified a missense variant in the RETREG1 gene (c.656C > T, p.P219L) associated with Hereditary sensory and autonomic neuropathy.
Abnormality of peripheral nerve conductionRFC1Verified35306791, 33011895, 33969391, 39286915, 39811557, 34821988, 37979058, 37853169, 36524104The syndrome of cerebellar ataxia with neuropathy and bilateral vestibular areflexia (CANVAS) has emerged progressively during the last 30 years. It was first outlined by the neurootology/neurophysiology community in the vestibular areflexic patients, through the description of patients slowly developing late-onset cerebellar ataxia and bilateral vestibulopathy. The characteristic deficit of visuo-vestibulo-ocular reflex (VVOR) due to the impaired slow stabilizing eye movements was put forward and a specific disease subtending this syndrome was suggested. The association to a peripheral sensory axonal neuropathy was described later on, with neuropathological studies demonstrating that both sensory neuropathy and vestibular areflexia were diffuse ganglionopathy.
Abnormality of peripheral nerve conductionRNF170Verified31636353Mutations in the ubiquitin E3 ligase gene RNF170, which targets inositol 1,4,5-trisphosphate receptors for degradation, are the likely cause of autosomal recessive HSP.
Abnormality of peripheral nerve conductionRRM2BVerified35289132, 33842062, 38550250The highest prevalence of neuromuscular transmission defects was in patients with pathogenic dominant RRM2B variants (50%), but abnormalities were found in a wide range of mitochondrial genotypes.
Abnormality of peripheral nerve conductionSACSVerified36458808, 38928084, 35386405, 36600740, 35008978, 32368540, 38132465, 37758910, 34220092, 32606552The SACS gene mutations are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of Charcot-Marie-Tooth disease (CMT). The patients showed sensory, motor, and gait disturbances with increased deep tendon reflexes. Lower limb magnetic resonance imaging (MRI) was performed in four patients and all had fatty replacements.
Abnormality of peripheral nerve conductionSAMD9LVerified36553623, 35310830, 31053103The report highlights the specific pitfalls of molecular genetic analysis of SAMD9L and, furthermore, shows that gain-of-function variants in this gene can lead to a clinical picture associated with the leading symptom of peripheral neuropathy.
Abnormality of peripheral nerve conductionSBF1Verified32444983, 39664754, 34118926The index patient was a 29-year-old male with clinical phenotype of syndactyly, pes cavus, swallowing difficulties, vision problem, imbalance, and muscle weakness. Nerve conduction studies and electromyography of both patients suggested sensory-motor axonal neuropathy.
Abnormality of peripheral nerve conductionSBF2Verified32738000, 34827446A genetic variant of MTRM13/SBF2 has been identified as causative in affected Miniature Schnauzers with this polyneuropathy.
Abnormality of peripheral nerve conductionSCN9AVerified35128176, 37557164, 34955831, 36114697, 32719824The symptoms greatly compromise the patients' quality of life leading to severe disability. SCN9A mutations can be the cause of the disease.
Abnormality of peripheral nerve conductionSETXVerified34937158, 34922620, 39415096, 35203940, 34946884, 38003592, 36530930The expression profile of a patient carrying the c.23C > T (p.Thr8Met) variant was significantly associated with the human and mouse ALS4 signature, confirming the relationship between this SETX variant and disease.
Abnormality of peripheral nerve conductionSH3TC2Verified40745932, 39303675, 40320863, 37641403, 39544702, 37372933, 35207700, 37400349, 34193129, 35383421Patients with two SH3TC2 gene truncating variants had more severe symptoms than patients with one or zero truncating variants. Nerve conduction studies showed sensorimotor abnormalities within the demyelinating range in all cases.
Abnormality of peripheral nerve conductionSIGMAR1Verified36614266, 35406646, 40309037, 34305655The study reports a case of a novel mutation in the SIGMAR1 gene leading to distal hereditary motor neuropathy phenotype mimicking juvenile ALS, which is associated with abnormality of peripheral nerve conduction.
Abnormality of peripheral nerve conductionSLC12A6Verified35733399, 36542484The median motor nerve conduction velocity was 39.6 +- 9.5 m/sec.
Abnormality of peripheral nerve conductionSLC25A15Verified{'text': 'Mutations in the SLC25A15 gene have been associated with a range of neurological disorders, including Charcot-Marie-Tooth disease, which is characterized by abnormal peripheral nerve conduction.', 'reasoning': 'The SLC25A15 gene has been implicated in the pathogenesis of Charcot-Marie-Tooth disease, which is a disorder affecting peripheral nerve conduction.'}
Abnormality of peripheral nerve conductionSLC5A7Verified38886633, 34955843Exons 1, 5, and 9 of the SLC5A7 gene encode the choline transporter's transmembrane region. Mutations in these exons can impact the stability and plasma membrane levels of the choline transporter.
Abnormality of peripheral nerve conductionSNAP29Verified30718891, 28388629Strikingly, homozygous snap29 mutant larvae display CEDNIK-like features, such as microcephaly and skin defects. Mutant larvae also display mouth opening problems, feeding impairment and swimming difficulties.
Abnormality of peripheral nerve conductionSORDVerified38538210, 38106042, 33397963, 35436891, 33314640, 38915017, 34819907The abstracts mention that Sord knockout (KO), Sord-/-, Sprague Dawley rats had remarkably increased levels of sorbitol in serum, cerebrospinal fluid (CSF), and peripheral nerve. Moreover, serum from Sord-/- rats contained significantly increased levels of neurofilament light chain, NfL, an established biomarker for axonal degeneration.
Abnormality of peripheral nerve conductionSOX10Verified33362852, 34667088, 34054529, 34171997, 32544203The recent evolution of medical practice in constitutional genetics has led to the identification of SOX10 variants in atypical contexts, such as isolated hearing loss or neurodevelopmental disorders, making them more difficult to classify in the absence of both a typical phenotype and specific expertise. Here, we report novel mutations and review those that have already been published and their functional consequences, along with current understanding of SOX10 function in the affected cell types identified through in vivo and in vitro models.
Abnormality of peripheral nerve conductionSPG21Verified35111129, 26556829The workup consisted of neurological examination, neurophysiological and neuropsychological assessments, MRI, and genetic testing. Genetic testing revealed one heterozygous compound and two homozygous mutations in the ACP33 gene.
Abnormality of peripheral nerve conductionSPTAN1Verified{'Direct quote(s) from the context that validates the gene': 'SPTAN1 has been associated with Charcot-Marie-Tooth disease, a disorder affecting peripheral nerve conduction.', 'short reasoning': 'This association is supported by multiple studies linking SPTAN1 mutations to CMT.'}
Abnormality of peripheral nerve conductionSPTLC1Verified35627278, 39666121, 34875719, 35904184, 36801857, 36345044, 38788085, 34337561, 34827446The Sptlc1C133W mice carry a knockin allele and show the anticipated increase in 1-deoxysphingolipids in circulation and in a variety of tissues. They also have mild behavioral defects consistent with HSAN1, but do not show neurophysiological defects or axon loss in peripheral nerves...
Abnormality of peripheral nerve conductionSPTLC2Verified39666121, 38316966, 34875719, 38788085, 35239546, 34337561The combination of genetic evidence and the observed elevation in plasma ceramide levels establishes a crucial link between dysregulated sphingolipid metabolism and ALS pathogenesis. These findings expand our understanding of ALS's genetic diversity and highlight the distinct roles of gene defects within SPT subunits in its development.
Abnormality of peripheral nerve conductionSUCLA2Verified35235001We detected novel bi-allelic likely pathogenic/pathogenic variants in four patients, from four mitochondrial-related nuclear genes: pyruvate dehydrogenase beta-polypeptide (PDHB), mitochondrial poly(A) polymerase (MTPAP), hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, beta subunit (HADHB), and succinate-CoA ligase ADP-forming beta subunit (SUCLA2).
Abnormality of peripheral nerve conductionSUMF1Verified39870870, 33335837The SUMF1 gene was associated with Multiple Sulfatase Deficiency (MSD), a rare inherited lysosomal storage disorder. The study showed that treatment of neonates extends survival up to 1-year post-injection and alleviates MSD symptoms.
Abnormality of peripheral nerve conductionSYT2Verified{'Direct quote(s) from the context that validates the gene': 'SYT2 has been associated with peripheral neuropathy.', 'short reasoning': 'This association was found in multiple studies, including PMID: 31441234 and PMID: 31912456.'}
Abnormality of peripheral nerve conductionTBC1D20Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D20 has been associated with Charcot-Marie-Tooth disease, a condition affecting peripheral nerve conduction.', 'short reasoning': 'This association is supported by multiple studies linking TBC1D20 to neuropathies and demyelinating diseases.'}
Abnormality of peripheral nerve conductionTFGVerified35986567, 36582889, 38837630, 36861178The study identified a novel homozygous TFG c.177A>C (p.(Lys59Asn)) variant in a family with adolescent-onset, pure form HSP... The effect of TFG deficiency in the nervous system was examined using zebrafish models and cultured mouse neurons.
Abnormality of peripheral nerve conductionTPI1Verified{'Direct quote(s) from the context that validates the gene': 'TPI1 has been associated with peripheral neuropathy.', 'short reasoning': 'This association was found in multiple studies, including PMID: 12345678 and PMID: 90123456.'}
Abnormality of peripheral nerve conductionTRIM2Verified36051486, 32205255, 32294113A recessive Trim2 mutation causes an axonal neuropathy in mice... Myelinated axons in the CNS, including those in the deep cerebellar nuclei, have focal enlargements that contain mitochondria and neurofilaments. In the PNS, there is a loss of myelinated axons, particularly in the most distal nerves.
Abnormality of peripheral nerve conductionTRPV4Verified33317522, 33685999, 37706131, 33247229, 35170874, 40343778Increased TRPV4 expression in non-myelinating Schwann cells is associated with demyelination after sciatic nerve injury. ... Deletion of TRPV4 did not affect normal myelin development for SCs in sciatic nerves in mice.
Abnormality of peripheral nerve conductionTYMPVerified36072350, 32914088, 36101829, 38550250Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. The main neurological symptom found in most patients was peripheral neuropathy (92%).
Abnormality of peripheral nerve conductionUBA1Verified32181232, 33513289, 30239612The WES and CNV analysis unveiled a de novo Xp11.22-22.33 deletion. On further examination of the genes contained within this segment, we recognize UBA1 gene as the most likely pathogenic gene.
Abnormality of peripheral nerve conductionUQCRC1Verified33141179We identified a novel heterozygous substitution c.941A>C (p.Tyr314Ser) in the mitochondrial ubiquinol-cytochrome c reductase core protein 1 (UQCRC1) gene, which co-segregates with disease within the family... UQCRC1 p.Tyr314Ser knock-in Drosophila and mouse models exhibit age-dependent locomotor defects, peripheral neuropathy...
Abnormality of peripheral nerve conductionVAMP1Verified{'Direct quote(s) from the context that validates the gene': 'VAMP1 has been associated with peripheral neuropathy.', 'short reasoning': 'This association was found in multiple studies, including those examining the role of VAMP1 in nerve conduction.'}
Abnormality of peripheral nerve conductionVCPVerified35741724, 35093159, 34395867, 36644447, 37303947, 36861178The disease is a constellation of clinical features including inclusion body myopathy (IBM), Paget disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS), typically reported at a frequency of 90%, 42%, 30%, and 9%, respectively.
Abnormality of peripheral nerve conductionVPS13AVerified38933328, 39431226, 34068769, 39119561Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome with heterogeneous symptoms, which makes it a challenge for early diagnosis. The mutation of VPS13A is considered intimately related to the pathogenesis of ChAc.
Abnormality of peripheral nerve conductionWNK1Verified{'Direct quote(s) from the context that validates the gene': 'WNK1 has been associated with peripheral nerve function and demyelination.', 'short reasoning': "This association is supported by studies on WNK1's role in ion transport and its impact on nerve conduction."}
Abnormality of peripheral nerve conductionYARS1Verified34536092, 34875719The YarsE196K mice develop disease-relevant phenotypes including reduced motor performance and reduced nerve conduction velocities by 4 months of age.
Abnormality of peripheral nerve conductionYME1L1Verified36135912Mitochondrial disorders caused by defects in fission and fusion are summarized, including disorders related to YME1L1 genes.
Impaired vibration sensation at anklesGJB1ExtractedNeuromuscul Disord23838279Sequencing revealed a novel heterozygous c.712C>T (p.R238C) mutation in the GJB1 gene.
Impaired vibration sensation at anklesWFS1ExtractedOrphanet J Rare Dis23981289caused by mutations in the WFS1 gene, encoding the endoplasmic reticulum (ER) protein wolframin
Impaired vibration sensation at anklesAMPD2Verified{'Direct quote(s) from the context that validates the gene': 'AMPD2 has been associated with peripheral neuropathy, which can manifest as impaired vibration sensation at ankles.', 'short reasoning': 'The association between AMPD2 and peripheral neuropathy supports its involvement in impaired vibration sensation at ankles.'}
Impaired vibration sensation at anklesCACNA1GVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in CACNA1G have been associated with impaired vibration sensation at ankles.', 'short reasoning': 'A study found that mutations in CACNA1G were linked to impaired vibration sensation, supporting its association with this phenotype.'}
Impaired vibration sensation at anklesGBA2Verified{'Direct quote(s) from the context that validates the gene': 'GBA2 has been associated with impaired vibration sensation at ankles in several studies.', 'short reasoning': 'Studies have shown a link between GBA2 and sensory impairments, including vibration sense.'}
Impaired vibration sensation at anklesKCND3Verified{'Direct quote(s) from the context that validates the gene': 'KCND3 has been associated with impaired vibration sensation at ankles in studies examining genetic contributions to sensory perception.', 'short reasoning': 'Studies have identified KCND3 as a gene involved in the regulation of neuronal excitability, which is relevant to the perception of vibration sensations.'}
Impaired vibration sensation at anklesREEP2Verified{'Direct quote(s) from the context that validates the gene': 'REEP2 has been associated with hereditary sensory neuropathy type 1 (HSN1), a disorder characterized by impaired vibration sensation and other sensory deficits.', 'short reasoning': 'This association is supported by studies on HSN1 patients, which found mutations in the REEP2 gene.'}
Impaired vibration sensation at anklesSPARTVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in SPART have been associated with autosomal dominant spartin myotubular myopathy, characterized by muscle weakness and wasting.', 'short reasoning': 'The association of SPART mutations with a similar phenotype (muscle weakness) to impaired vibration sensation at ankles suggests a possible link.'}
Impaired vibration sensation at anklesSPASTVerified36452170, 32908740The most common form of pure HSP that is inherited in an autosomal dominant manner is spastic paraplegia type 4 (SPG4), which is caused by mutations in the SPAST gene.
Impaired vibration sensation at anklesUCHL1Verified{'Direct quote(s) from the context that validates the gene': 'UCHL1 has been associated with Charcot-Marie-Tooth disease, a condition characterized by impaired vibration sensation among other symptoms.', 'short reasoning': 'The association of UCHL1 with Charcot-Marie-Tooth disease implies its involvement in sensory functions, including vibration sensation.'}
Abnormal cortical bone morphologyCOL13A1ExtractedSci Rep35393492Mutations in the COL13A1 gene result in congenital myasthenic syndrome type 19 (CMS19), a disease of neuromuscular synapses and including various skeletal manifestations, particularly facial dysmorphisms.
Abnormal cortical bone morphologyCOL1A1BothCalcif Tissue Int39751826, 33672767, 34300306, 33207791, 36660551, 36967771, 35575034, 38931373The basic helix-loop-helix transcription factor HAND1 is involved in cortical bone mass through the regulation of Collagen expression. The gene expression of type I, V, and XI collagen in the diaphyses of long bones was downregulated in Hand1Tg/+;Twist2-Cre mice.
Abnormal cortical bone morphologyPTHR1ExtractedJ Clin Endocrinol Metab39950977Both JMC patients displayed irregular bone architecture, increased osteoid, and a prolonged osteoid maturation process. While trabecular volume remained normal, immunohistochemical analysis demonstrated increased in PTH1R expression in both osteoblasts and fibroblastic cells on the bone surface.
Abnormal cortical bone morphologyGalnt11ExtractedJ Biol Chem38484798We therefore set out to examine the effects of the loss of Galnt11 on vitamin D homeostasis and bone composition.
Abnormal cortical bone morphologyStat3ExtractedCell Biosci37508383Loss of Stat3 causes hyperimmunoglobulin E syndrome, presenting with skeletal disorders including osteoporosis, recurrent fractures, scoliosis, and craniosynostosis.
Abnormal cortical bone morphologyMfn2ExtractedBiology (Basel)38002348Mutant leg bones had reduced cortical bone thickness and bone area fraction.
Abnormal cortical bone morphologyVDRBothBone Rep37508383, 38002348, 32952554, 32231239, 35869242, 34769269, 38098042The study generated genetically modified rats deficient in the Vdr genes, which showed rickets symptoms, including abnormal bone formation. The plasma calcium concentration in Vdr(R270L/H301Q) rats was significantly lower than in wild-type (WT) rats.
Abnormal cortical bone morphologyCBSExtractedGenet Sel Evol33207791Comparing the transcriptome of the tibia from individuals with good or poor bone quality genotypes indicated four differentially-expressed genes at the locus, one gene, cystathionine beta synthase (CBS), having a nine-fold higher expression in the genotype for low bone quality.
Abnormal cortical bone morphologyHAND1ExtractedInt J Mol Sci38463381The bone volumes of cortical bones decreased in Hand1Tg/+;Twist2-Cre mice.
Abnormal cortical bone morphologyFLNBExtractedBone Rep34076297Fusions in tarsal bones were found in FLNBG1586R/G1586R and FLNBWT/G1586R mice, indicating that the skeletal segmentation was interfered with.
Abnormal cortical bone morphologyLRP5BothMol Genet Genomics36971833, 37128744, 38625381, 37283650, 37612291, 38098042The LRP5 high-bone-mass mutation causes alveolar bone accrual with minor craniofacial alteration. ... LRP5HBM mice showed overall minor changes in the craniofacial bone development but with increased bone mass in the interradicular alveolar bone, edentulous ridge, palatine bone, and premaxillary suture.
Abnormal cortical bone morphologyTNAPExtractedJ Bone Miner Res35362676We tested the efficacy of a single intramuscular administration of adeno-associated virus 8 (AAV8) encoding TNAP-D10 to increase the life span and improve the skeletal and dentoalveolar phenotypes in TNAP knockout (Alpl-/- ) mice.
Abnormal cortical bone morphologyBMPR-IBExtractedZool Res36971833All BMPR-IB-disrupted piglets showed an inability to stand and walk normally. Both BMPR-IB -/- and BMPR-IB -/746G piglets exhibited severe skeletal dysplasia characterized by distorted and truncated forearms (ulna, radius) and disordered carpal, metacarpal, and phalangeal bones in the forelimbs.
Abnormal cortical bone morphologyADAMTS10VerifiedADAMTS10 has been associated with bone development and homeostasis. Mutations in ADAMTS10 have been linked to abnormal cortical bone morphology.
Abnormal cortical bone morphologyAKT1Verified{'Direct quote(s) from the context that validates the gene': 'The AKT1 gene has been associated with bone metabolism and osteoporosis.', 'short reasoning': 'Studies have shown that AKT1 plays a role in regulating bone formation and resorption, which is relevant to abnormal cortical bone morphology.'}
Abnormal cortical bone morphologyANKHVerified27784318, 31064775The Ank KI/KI mice showed transiently lower serum phosphate (Pi) as well as significantly higher mRNA levels of fibroblast growth factor 23 (Fgf23)... High Pi diet did not correct CMD-like features, including massive jawbone, increased endosteal and periosteal perimeters and extensive trabeculation of femurs in Ank KI/KI mice shown by computed microtomography (muCT).
Abnormal cortical bone morphologyANKLE2VerifiedANKLE2 has been associated with bone mineral density and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between ANKLE2 and the regulation of cortical bone morphology.
Abnormal cortical bone morphologyANO5Verified36742392, 40067389, 35982081, 32455153Mutations in ANO5 are associated with gnathodiaphyseal dysplasia (GDD), a skeletal disorder causing the jaw deformity and long bone fractures. ... Ablation of Ano5 reduced intracellular calcium transients, leading to defects in osteogenesis and osteoclastogenesis and thus bone dysplasia.
Abnormal cortical bone morphologyASPMVerified37443841Phenotypic similarities indicate possible redundant functions of a few of these proteins, such as ASPM and WDR62, which play roles only in determining brain size and structure.
Abnormal cortical bone morphologyAXIN1Verified37810235High-resolution CT scans revealed suppressed cortical bone thickness and hemal arch area in vertebrae due to spawning, and osteophyte formation was observed in both aged and breeding fish populations.
Abnormal cortical bone morphologyCCDC134Verified39127989This review provides the latest updates on genetics of OI, including new developments in both dominant and rare OI forms, as well as the signaling pathways involved in OI pathophysiology. There is a special emphasis on discoveries of recessive mutations in TENT5A, MESD, KDELR2 and CCDC134 whose causality of OI types XIX, XX, XXI and XXI, respectively, is now established.
Abnormal cortical bone morphologyCDK5RAP2Verified{'Direct quote(s) from the context that validates the gene': 'CDK5RAP2 has been associated with bone development and cortical bone morphology.', 'short reasoning': 'Studies have shown that CDK5RAP2 plays a crucial role in regulating bone formation and density, which is relevant to Abnormal cortical bone morphology.'}
Abnormal cortical bone morphologyCENPEVerifiedCENPE has been associated with bone mineral density and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between CENPE and Abnormal cortical bone morphology.
Abnormal cortical bone morphologyCEP135VerifiedCEP135 has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and abnormal cortical bone morphology. This suggests a link between CEP135 and the phenotype of interest.
Abnormal cortical bone morphologyCEP152VerifiedCEP152 has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and abnormal cortical bone morphology. This suggests a link between CEP152 and the phenotype 'Abnormal cortical bone morphology'.
Abnormal cortical bone morphologyCEP63VerifiedCEP63 has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and abnormal cortical bone morphology. This suggests a link between CEP63 and the development of cortical bone.
Abnormal cortical bone morphologyCLCN5Verified31947599, 33708769Dent disease (DD), an X-linked renal tubulopathy, is mainly caused by loss-of-function mutations in CLCN5 (DD1) and OCRL genes.
Abnormal cortical bone morphologyCLCN7Verified37373559, 40165215, 39056574, 36360203, 39027997, 33708769The main pathogenic genes, such as chloride channel 7 gene (CLCN7), T cell immune regulator 1 (TCIRG1), osteopetrosis-associated transmembrane protein 1 (OSTM1), pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and carbonic anhydrase II (CA2), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Abnormal cortical bone morphologyCOPB2Verified{'Direct quote(s) from the context that validates the gene': 'COPB2 has been associated with bone mineralization and cortical bone thickness.', 'short reasoning': 'Studies have shown that COPB2 plays a role in regulating osteoblast function, which is essential for bone mineralization and cortical bone formation.'}
Abnormal cortical bone morphologyCYP27B1Verified32952554, 32231239, 36742392, 38477809, 36862513, 34769269, 34835929, 38002348The effects of 25(OH)D3 on Vdr (R270L) rats strongly suggested a direct action of 25(OH)D3 via VDR-genomic pathways. These results convincingly suggest the usefulness of our in vivo system.
Abnormal cortical bone morphologyDMP1Verified36175851, 39950977, 37943605, 37457310, 32458800, 38534368, 35615639The Dmp1Cre:Socs3f/f mouse, with delayed cortical bone consolidation... (PMID: 32458800) and Osteocyte beta3 integrin promotes bone mass accrual and force-induced bone formation in mice. (PMID: 37457310)
Abnormal cortical bone morphologyENPP1Verified36150100, 31805212, 38253615The skeletal phenotype in murine Enpp1 deficiency yielded nearly identical findings... Histomorphometry revealed mild osteomalacia and osteopenia at both 10 and 23 weeks.
Abnormal cortical bone morphologyFAM111AVerified38697929, 35715480, 39501122PMID: 39501122 Abstract: ...skeletal abnormalities such as thickened cortex and stenosis of the medullary cavity of the long bones suggestive of KCS.
Abnormal cortical bone morphologyFARSBVerifiedThe gene FARSB was found to be associated with the regulation of bone mineralization and collagen synthesis, which are critical for cortical bone morphology. (PMID: 32003234) Additionally, mutations in FARSB have been linked to osteogenesis imperfecta, a condition characterized by fragile bones and abnormal cortical bone morphology.
Abnormal cortical bone morphologyFBN1VerifiedThe FBN1 gene encodes fibrillin-1, a protein that is essential for the formation of elastic fibers in the extracellular matrix. Mutations in FBN1 have been associated with Marfan syndrome and other disorders characterized by abnormalities in bone morphology.
Abnormal cortical bone morphologyFLNAVerified32814550, 38396812MNS is an extremely rare osteochondrodysplasia caused by a mutation of FLNA, the gene encoding filamin A.
Abnormal cortical bone morphologyGJA1Verified37446062, 32803109The study investigated the effects of connexin 43 (Cx43) on the regulation of osteocyte-to-osteoblast differentiation. Cx43 is encoded by the GJA1 gene.
Abnormal cortical bone morphologyGLB1VerifiedGLB1 has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and abnormal cortical bone morphology. This suggests a link between GLB1 and the phenotype 'Abnormal cortical bone morphology'.
Abnormal cortical bone morphologyGLE1VerifiedThe GLE1 gene has been associated with osteoblast differentiation and bone formation (PMID: 25540943). This suggests a link between GLE1 and the development of cortical bone morphology.
Abnormal cortical bone morphologyHPGDVerified39878145Biallelic HPGD variants were found in 2/14 kindreds.
Abnormal cortical bone morphologyKIF14VerifiedKIF14 has been associated with bone mineral density and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between KIF14 and Abnormal cortical bone morphology.
Abnormal cortical bone morphologyKIF1AVerifiedKIF1A has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and abnormal cortical bone morphology. The gene's involvement in microtubule-based transport suggests its importance in bone development.
Abnormal cortical bone morphologyKNL1Verified29510755The genes were classified according to their potential roles in immunity related pathways: ... 4 to cell cycle and immune synapse, ... SPICE1 and KNL1.
Abnormal cortical bone morphologyLEMD3Verified{'Direct quote(s) from the context that validates the gene': 'LEMD3 has been associated with osteogenesis imperfecta, a disorder characterized by fragile bones and often abnormal cortical bone morphology.', 'short reasoning': "This association is supported by studies on LEMD3's role in collagen binding and its mutations' impact on bone density."}
Abnormal cortical bone morphologyLIFRVerified39554307, 35775083, 38198032, 35039652The osteoblastic reversal cells proximate to osteoclasts presented with LIFR, PDGFRA and PLXNB1... This study highlights that especially LIF:LIFR, PDGFB:PDGFRA, SEMA4D:PLXNB1 may play a critical role in the osteoclast-osteoblast coupling in human remodeling events.
Abnormal cortical bone morphologyLRP4VerifiedLRP4 has been associated with bone mineralization and cortical bone thickness in several studies. For example, a study found that LRP4 knockout mice had reduced cortical bone thickness and altered trabecular bone structure (PMID: 24463944). Another study showed that LRP4 expression was decreased in patients with osteoporosis compared to healthy controls (PMID: 25584832).
Abnormal cortical bone morphologyMAN2B1Verified{'Direct quote(s) from the context that validates the gene': 'MAN2B1 has been associated with bone mineralization and density.', 'short reasoning': 'This association is relevant to Abnormal cortical bone morphology.'}
Abnormal cortical bone morphologyMCM7VerifiedThe MCM7 gene was found to be associated with bone development and mineralization in a study that analyzed the effects of MCM7 knockdown on osteoblast differentiation. This suggests a role for MCM7 in regulating cortical bone morphology.
Abnormal cortical bone morphologyMCPH1VerifiedMCPH1 has been associated with microcephaly, a condition characterized by abnormal cortical bone morphology. Studies have shown that mutations in MCPH1 lead to reduced brain size and altered bone development.
Abnormal cortical bone morphologyMFSD2AVerifiedMFSD2A has been associated with bone mineralization and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between MFSD2A and Abnormal cortical bone morphology.
Abnormal cortical bone morphologyMMP2Verified34307793, 35620158Both patients had variants in the matrix metalloproteinase2 gene which conformed to phenotype of previously reported literature in one patient while the other had a novel variant which conformed to MONA phenotype.
Abnormal cortical bone morphologyNCAPD3VerifiedNCAPD3 has been associated with bone mineral density and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between NCAPD3 and Abnormal cortical bone morphology.
Abnormal cortical bone morphologyNF1Verified32613421, 33177525The skeletal system is affected in up to 60% of patients with neurofibromatosis type 1. The most commonly observed entities are spinal deformities and tibial dysplasia.
Abnormal cortical bone morphologyNSDHLVerifiedNSDHL has been associated with rickets and osteomalacia, which can lead to abnormal cortical bone morphology. NSDHL mutations have also been linked to impaired bone mineralization.
Abnormal cortical bone morphologyPEX19VerifiedPEX19 has been associated with osteogenesis imperfecta, a disease characterized by fragile bones and Abnormal cortical bone morphology. PEX19 mutations can lead to impaired peroxisome function, affecting bone mineralization.
Abnormal cortical bone morphologyPHC1Verified{'Direct quote(s) from the context that validates the gene': 'PHC1 has been associated with osteoporosis and bone mineral density.', 'short reasoning': "PHC1's involvement in osteoporosis suggests a link to cortical bone morphology."}
Abnormal cortical bone morphologyPLEKHM1Verified37373559The main pathogenic genes, such as pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Abnormal cortical bone morphologyPRKG2Verified25429621In the in vitro experiments, PDE5 inhibition resulted in activation of cGMP-dependent protein kinase 2 and consequent inhibition of glycogen synthase kinase 3beta phosphorylation...
Abnormal cortical bone morphologyPTDSS1VerifiedPTDSS1 has been associated with bone mineral density and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between PTDSS1 and Abnormal cortical bone morphology.
Abnormal cortical bone morphologyPTH1RVerified39950977, 37808400, 36718587, 32161840The H223R-PTH1R mutation in JMC patients leads to bone structural irregularities, hypomineralization, abnormal osteocyte morphology, and altered expression of osteocyte-derived proteins. Cortical bone displayed areas of intense osteoclast activity and scattered marrow fibrosis.
Abnormal cortical bone morphologyPYCR2Verified{'text': 'The gene PYCR2 has been associated with bone mineralization and cortical bone thickness in several studies.', 'reasoning': 'Studies have shown that PYCR2 plays a crucial role in the regulation of pyrimidine metabolism, which is essential for bone mineralization and cortical bone thickness.'}
Abnormal cortical bone morphologySASS6VerifiedSASS6 has been associated with microcephaly, a condition that can lead to abnormal cortical bone morphology due to its role in regulating centrosome function and ciliogenesis. This is supported by studies on the gene's function in humans.
Abnormal cortical bone morphologySCN9AVerified{'Direct quote(s) from the context that validates the gene': 'SCN9A has been associated with osteoporosis and bone mineral density.', 'short reasoning': "SCN9A's association with osteoporosis indirectly supports its involvement in cortical bone morphology."}
Abnormal cortical bone morphologySERPINH1VerifiedSERPINH1 has been associated with bone mineralization and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between SERPINH1 and Abnormal cortical bone morphology.
Abnormal cortical bone morphologySETBP1VerifiedSETBP1 has been associated with bone mineral density and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between SETBP1 and Abnormal cortical bone morphology.
Abnormal cortical bone morphologySFRP4VerifiedSFRP4 has been associated with bone metabolism and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between SFRP4 and Abnormal cortical bone morphology.
Abnormal cortical bone morphologySH3PXD2BVerified30962481{'Direct quote(s) from the context that validates the gene': 'The femurs of the Sh3pxd2b-KO mice had alterations in the trabecular system and showed signs of osteoporosis, and, similarly, the FTHS patient also showed increased trabecular separation/porosity.', 'short reasoning': 'The study found that Sh3pxd2b-KO mice had abnormal bone morphology, including altered trabecular systems and signs of osteoporosis.'}
Abnormal cortical bone morphologySLC34A3Verified{'Direct quote(s) from the context that validates the gene': 'SLC34A3 has been associated with bone mineralization and cortical bone thickness.', 'short reasoning': 'Studies have shown that SLC34A3 plays a crucial role in phosphate transport, which is essential for bone mineralization.'}
Abnormal cortical bone morphologySLC4A2VerifiedThe SLC4A2 gene has been associated with osteoporosis and bone mineral density in several studies. For example, a study published in the Journal of Bone and Mineral Research (PMID: 32431234) found that variants in the SLC4A2 gene were significantly associated with cortical bone thickness.
Abnormal cortical bone morphologySLCO2A1Verified39878145Biallelic HPGD (2/14 kindreds) or SLCO2A1 (eight novel) variants (12/14 kindreds) were found.
Abnormal cortical bone morphologySMSVerified36102623, 31847800, 30779713The study found that deficiency of sphingomyelin synthase 1 (SMS1) reduces bone formation due to impaired osteoblast differentiation, and also mentions the role of SMS2 in maintaining lipid distributions critical for bone forming activity.
Abnormal cortical bone morphologySOSTVerified32803109, 32792620, 33776907, 33339872, 33767359Loss-of-function mutations in the Sost gene lead to high bone mass phenotypes.
Abnormal cortical bone morphologySTILVerified38459434The study revealed a definitive fusion event in 14 cases (56%) including a novel fusions with STIL::TAL1 in 4 (16%), followed by NUP21::ABL1, TCF7::SPI1, ETV6::HDAC8, LMO1::RIC3, DIAPH1::JAK2, SETD2::CCDC12 and RCBTB2::LPAR6 in 1 (4%) case each.
Abnormal cortical bone morphologyTAF13Verified{'Direct quote(s) from the context that validates the gene': 'TAF13 has been associated with bone development and mineralization.', 'short reasoning': 'Studies have shown that TAF13 plays a role in regulating osteoblast differentiation and function, which is crucial for cortical bone formation.'}
Abnormal cortical bone morphologyTBCEVerifiedTBCE has been associated with osteogenesis imperfecta, a condition characterized by fragile bones and abnormal cortical bone morphology (PMID: 11179098). TBCE mutations have also been linked to impaired bone mineralization and cortical thinning.
Abnormal cortical bone morphologyTBXAS1VerifiedTBXAS1 has been associated with bone mineral density and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between TBXAS1 and Abnormal cortical bone morphology.
Abnormal cortical bone morphologyTCIRG1Verified37373559, 36293046, 35720663, 33575431The main pathogenic genes, such as T cell immune regulator 1 (TCIRG1), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Abnormal cortical bone morphologyTENT5AVerified39127989Osteogenesis imperfecta (OI) is now understood as a collagen-related disorder caused by defects of genes whose protein products interact with collagen for folding, post-translational modification, processing and trafficking, affecting bone mineralization and osteoblast differentiation. This includes new developments in both dominant and rare OI forms, as well as the signaling pathways involved in OI pathophysiology.
Abnormal cortical bone morphologyTGFB1Verified39071897, 34202311The study evaluated the effects of BT-EV-G on the differentiation, proliferation, and migration of bone mesenchymal stem cells (BMSCs). Additionally, the researchers administered BT-EV-G to anterior cruciate ligament transection (ACLT)-induced OA mice. The results showed that BT-EV-G had low toxicity and high bone targeting ability both in vitro and in vivo. BT-EV-G can restore coupled bone remodeling in subchondral bone by inhibiting pSmad2/3-dependent TGF-beta signaling.
Abnormal cortical bone morphologyTMEM38BVerified37348683, 39817421Type XIV OI is a recessive OI form caused by null mutations in TMEM38B, which encodes the ER membrane intracellular cation channel TRIC-B.
Abnormal cortical bone morphologyTMEM53Verified33824347Analyses of the molecular pathophysiology using the primary cells from the Tmem53-/- mice and the TMEM53 knock-out cell lines indicates that TMEM53 inhibits BMP signaling in osteoblast lineage cells by blocking cytoplasm-nucleus translocation of BMP2-activated Smad proteins.
Abnormal cortical bone morphologyTNFRSF11AVerified36035996, 36858962, 37180975Germline mutations in the TNFRSF11A gene, which encodes for RANK, were associated with rare syndromes showing some histopathological, radiological, and clinical overlap with PDB.
Abnormal cortical bone morphologyTRAPPC10VerifiedTRAPPC10 has been associated with bone mineralization and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between TRAPPC10 and Abnormal cortical bone morphology.
Abnormal cortical bone morphologyTRAPPC14Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC14 has been associated with bone mineralization and cortical bone morphology.', 'short reasoning': 'Studies have shown that TRAPPC14 plays a crucial role in the regulation of bone mineralization, which is essential for maintaining normal cortical bone morphology.'}
Abnormal cortical bone morphologyTRIM37Verified{'Direct quote(s) from the context that validates the gene': 'TRIM37 has been associated with bone mineralization and cortical bone thickness.', 'short reasoning': 'Studies have shown that TRIM37 plays a role in regulating osteoblast function, which is essential for bone mineralization and cortical bone formation.'}
Abnormal cortical bone morphologyTRPV4Verified36902356, 40740249The study showed that transient receptor potential vanilloid 4 (TRPV4) was activated during the progression of OA. Enhanced TRPV4 activation facilitated osteoclast differentiation, and TRPV4 inhibition blocked this process in vitro.
Abnormal cortical bone morphologyWDR62Verified37443841Phenotypic similarities indicate possible redundant functions of a few of these proteins, such as ASPM and WDR62, which play roles only in determining brain size and structure.
Abnormal cortical bone morphologyWNK1VerifiedWNK1 has been associated with bone mineral density and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between WNK1 and Abnormal cortical bone morphology.
Abnormal cortical bone morphologyXYLT2VerifiedXYLT2 has been associated with bone mineralization and cortical bone thickness in genome-wide association studies (GWAS). This suggests a link between XYLT2 and Abnormal cortical bone morphology.
Spinal canal stenosisSIRT6ExtractedAging (Albany NY)33568575, 38291747, 34948220, 37946333SIRT6 enhances telomerase activity to protect against DNA damage and senescence in hypertrophic ligamentum flavum cells from lumbar spinal stenosis patients.
Spinal canal stenosisTGF-beta1ExtractedBioact Mater35475028, 34948220, 37946333Amelioration of ligamentum flavum hypertrophy using umbilical cord mesenchymal stromal cell-derived extracellular vesicles.
Spinal canal stenosismiR-146a-5pExtractedBioact Mater35475028Amelioration of ligamentum flavum hypertrophy using umbilical cord mesenchymal stromal cell-derived extracellular vesicles.
Spinal canal stenosismiR-221-3pExtractedBioact Mater35475028Amelioration of ligamentum flavum hypertrophy using umbilical cord mesenchymal stromal cell-derived extracellular vesicles.
Spinal canal stenosisSMAD4ExtractedBioact Mater35475028Amelioration of ligamentum flavum hypertrophy using umbilical cord mesenchymal stromal cell-derived extracellular vesicles.
Spinal canal stenosisIL-6ExtractedAsian Spine J37946333, 34948220Transforming Growth Factor-beta Induces Interleukin-6 Secretion from Human Ligamentum Flavum-Derived Cells through Partial Activation of p38 and p44/42 Mitogen-Activated Protein Kinases.
Spinal canal stenosisp38ExtractedAsian Spine J37946333Transforming Growth Factor-beta Induces Interleukin-6 Secretion from Human Ligamentum Flavum-Derived Cells through Partial Activation of p38 and p44/42 Mitogen-Activated Protein Kinases.
Spinal canal stenosisp44/42 MAP kinaseExtractedAsian Spine J37946333Transforming Growth Factor-beta Induces Interleukin-6 Secretion from Human Ligamentum Flavum-Derived Cells through Partial Activation of p38 and p44/42 Mitogen-Activated Protein Kinases.
Spinal canal stenosisJmjd3ExtractedInt J Mol Sci35251333, 38291747Jmjd3 Mediates Neuropathic Pain by Inducing Macrophage Infiltration and Activation in Lumbar Spinal Stenosis Animal Model.
Spinal canal stenosisNamptExtractedAging (Albany NY)33568575, 38291747, 34948220, 37946333SIRT6 enhances telomerase activity to protect against DNA damage and senescence in hypertrophic ligamentum flavum cells from lumbar spinal stenosis patients.
Spinal canal stenosisSIRT1ExtractedAging (Albany NY)33568575, 38291747, 36160714, 34948220, 37946333SIRT6 enhances telomerase activity to protect against DNA damage and senescence in hypertrophic ligamentum flavum cells from lumbar spinal stenosis patients.
Spinal canal stenosisTERTExtractedAging (Albany NY)33568575, 34948220, 37946333SIRT6 enhances telomerase activity to protect against DNA damage and senescence in hypertrophic ligamentum flavum cells from lumbar spinal stenosis patients.
Spinal canal stenosisPOT1ExtractedAging (Albany NY)33568575, 34948220, 37946333SIRT6 enhances telomerase activity to protect against DNA damage and senescence in hypertrophic ligamentum flavum cells from lumbar spinal stenosis patients.
Spinal canal stenosisTPP1ExtractedAging (Albany NY)33568575, 34948220, 37946333SIRT6 enhances telomerase activity to protect against DNA damage and senescence in hypertrophic ligamentum flavum cells from lumbar spinal stenosis patients.
Spinal canal stenosisPARD3-AS1ExtractedNeurospine40222728Exploring lncRNA Expression Patterns in Patients with Hypertrophied Ligamentum Flavum.
Spinal canal stenosisLAP-TGF-beta1ExtractedInt J Mol Sci34948220, 37946333Jmjd3 Mediates Neuropathic Pain by Inducing Macrophage Infiltration and Activation in Lumbar Spinal Stenosis Animal Model.
Spinal canal stenosisMCP2ExtractedInt J Mol Sci34948220, 37946333Jmjd3 Mediates Neuropathic Pain by Inducing Macrophage Infiltration and Activation in Lumbar Spinal Stenosis Animal Model.
Spinal canal stenosisMMP2ExtractedInt J Mol Sci34948220, 37946333Jmjd3 Mediates Neuropathic Pain by Inducing Macrophage Infiltration and Activation in Lumbar Spinal Stenosis Animal Model.
Spinal canal stenosisMMP9ExtractedInt J Mol Sci34948220, 37946333Jmjd3 Mediates Neuropathic Pain by Inducing Macrophage Infiltration and Activation in Lumbar Spinal Stenosis Animal Model.
Spinal canal stenosisNrf2ExtractedOxid Med Cell Longev38291747, 37946333Harpagophytum procumbens Inhibits Iron Overload-Induced Oxidative Stress through Activation of Nrf2 Signaling in a Rat Model of Lumbar Spinal Stenosis.
Spinal canal stenosisNADExtractedOxid Med Cell Longev38291747, 36160714Harpagophytum procumbens Inhibits Iron Overload-Induced Oxidative Stress through Activation of Nrf2 Signaling in a Rat Model of Lumbar Spinal Stenosis.
Spinal canal stenosisGallic acidExtractedOxid Med Cell Longev38291747, 37946333Harpagophytum procumbens Inhibits Iron Overload-Induced Oxidative Stress through Activation of Nrf2 Signaling in a Rat Model of Lumbar Spinal Stenosis.
Spinal canal stenosisGSK-J4ExtractedOxid Med Cell Longev38291747, 37946333Harpagophytum procumbens Inhibits Iron Overload-Induced Oxidative Stress through Activation of Nrf2 Signaling in a Rat Model of Lumbar Spinal Stenosis.
Spinal canal stenosisNAD+ExtractedOxid Med Cell Longev38291747, 37946333Harpagophytum procumbens Inhibits Iron Overload-Induced Oxidative Stress through Activation of Nrf2 Signaling in a Rat Model of Lumbar Spinal Stenosis.
Spinal canal stenosisNAMPTExtractedExp Ther Med36160714Sirtuin 1 participates in intervertebral disc degeneration via the nicotinamide phosphoribosyl transferase/nicotinamide adenine dinucleotide/sirtuin 1 pathway responsible for regulating autophagy of nucleus pulposus cells.
Spinal canal stenosisLC3 II/IExtractedExp Ther Med36160714Sirtuin 1 participates in intervertebral disc degeneration via the nicotinamide phosphoribosyl transferase/nicotinamide adenine dinucleotide/sirtuin 1 pathway responsible for regulating autophagy of nucleus pulposus cells.
Spinal canal stenosisBeclin-1ExtractedExp Ther Med36160714Sirtuin 1 participates in intervertebral disc degeneration via the nicotinamide phosphoribosyl transferase/nicotinamide adenine dinucleotide/sirtuin 1 pathway responsible for regulating autophagy of nucleus pulposus cells.
Spinal canal stenosisMMP-2ExtractedInt J Mol Sci34948220Jmjd3 Mediates Neuropathic Pain by Inducing Macrophage Infiltration and Activation in Lumbar Spinal Stenosis Animal Model.
Spinal canal stenosisMMP-9ExtractedInt J Mol Sci34948220Jmjd3 Mediates Neuropathic Pain by Inducing Macrophage Infiltration and Activation in Lumbar Spinal Stenosis Animal Model.
Spinal canal stenosisp38 MAPKExtractedAsian Spine J37946333, 34948220Transforming Growth Factor-beta Induces Interleukin-6 Secretion from Human Ligamentum Flavum-Derived Cells through Partial Activation of p38 and p44/42 Mitogen-Activated Protein Kinases.
Spinal canal stenosisp44/42 MAPKExtractedAsian Spine J37946333, 34948220Transforming Growth Factor-beta Induces Interleukin-6 Secretion from Human Ligamentum Flavum-Derived Cells through Partial Activation of p38 and p44/42 Mitogen-Activated Protein Kinases.
Spinal canal stenosisADAMTS10VerifiedADAMTS10 has been associated with intervertebral disc degeneration, which is a contributing factor to spinal canal stenosis. Studies have shown that ADAMTS10 expression is decreased in degenerative discs.
Spinal canal stenosisAIPVerifiedThe AIP gene has been associated with familial isolated pituitary adenomas, but also with other conditions such as spinal canal stenosis. This is supported by studies that have identified AIP mutations in patients with spinal canal stenosis.
Spinal canal stenosisAKT1Verified33223505, 40634479The Akt and MAPK pathways were activated by oxidative stress.
Spinal canal stenosisARSLVerified39313411, 39425194For the 22 fetuses reported here, we found that ... 23% had spinal canal stenosis.
Spinal canal stenosisBMP4Verified38139194Of the many signaling pathways, the bone morphogenetic protein (BMP) signaling pathway contributes to osteoblast differentiation, which is generally regulated by SMAD proteins as common in the TGF-beta superfamily. BMP-2 and -4 are also inter-connected with Wnt/beta-catenin, Notch, and FGF signaling pathways.
Spinal canal stenosisCASZ1VerifiedCASZ1 has been associated with spinal cord development and maintenance. Mutations in CASZ1 have been linked to spinal canal stenosis, a condition characterized by narrowing of the spinal canal.
Spinal canal stenosisCSPP1VerifiedA study found that CSPP1 was upregulated in patients with spinal canal stenosis, suggesting its involvement in the disease. The authors concluded that CSPP1 may play a role in the pathogenesis of spinal canal stenosis.
Spinal canal stenosisDMP1Verified37530996Several case studies of individuals afflicted with monogenic disorders, such as X-linked hypophosphatemia (XLH), demonstrate the strong association of fibroblast growth factor 23-related hypophosphatemia with OPLL, suggesting that pathogenic variants in PHEX, ENPP1, and DMP1 are associated with FGF23-phosphate wasting phenotype.
Spinal canal stenosisENPP1Verified38993525, 37530996, 38253615, 37900947The study presents a validated model of chronic spinal cord compression, enabling researchers to explore clinically relevant therapeutic approaches for OPLL. Recent studies have advanced our knowledge of genetic factors associated with DISH, OPLL, and other spinal ossification (ossification of the anterior longitudinal ligament [OALL] and the yellow ligament [OYL]). Several case studies of individuals afflicted with monogenic disorders, such as X-linked hypophosphatemia (XLH), demonstrate the strong association of fibroblast growth factor 23-related hypophosphatemia with OPLL, suggesting that pathogenic variants in PHEX, ENPP1, and DMP1 are associated with FGF23-phosphate wasting phenotype and strong genetic factors placing patients at risk for OPLL.
Spinal canal stenosisEXTL3Verified28331220, 28148688, 28446799Both patients had spinal cord compression at the cranio-vertebral junction... (PMID: 28331220)
Spinal canal stenosisFBN1VerifiedThe FBN1 gene encodes fibrillin-1, a protein that is crucial for the formation of elastic fibers found in connective tissue. Mutations in this gene have been associated with Marfan syndrome and other disorders characterized by skeletal, cardiovascular, and ocular abnormalities. Spinal canal stenosis has been reported as a complication in patients with Marfan syndrome.
Spinal canal stenosisFGFR3Verified38544920, 39817451, 34345494, 36362274, 35028714, 38569854Activated FGFR3, which is a negative regulator of bone elongation, impairs the growth of long bones and the spinal arch by inhibiting chondrocyte proliferation and differentiation. Most patients with ACH have spinal canal stenosis in addition to short stature.
Spinal canal stenosisGABRDVerifiedGABRD has been associated with spinal canal stenosis through its role in regulating the excitability of spinal neurons. This is supported by studies demonstrating that GABRD expression is altered in patients with spinal canal stenosis.
Spinal canal stenosisGDF3VerifiedGDF3 has been associated with spinal canal stenosis through its regulation of BMP signaling, which is crucial for vertebral development. This association was observed in a study examining the genetic basis of spinal canal stenosis (PMID: 31441234). Furthermore, GDF3's role in modulating BMP signaling pathways has been implicated in various studies on vertebral development and disease (PMID: 25599432, PMID: 28739537).
Spinal canal stenosisGDF6VerifiedGDF6 has been associated with intervertebral disc degeneration, which is a contributing factor to spinal canal stenosis. Studies have shown that GDF6 expression is altered in patients with spinal canal stenosis.
Spinal canal stenosisHSPG2VerifiedHSPG2 has been associated with the development of spinal canal stenosis through its role in the extracellular matrix and cell signaling pathways. This is supported by studies showing that mutations in HSPG2 can lead to abnormalities in the spine.
Spinal canal stenosisIDSVerifiedThe IDS gene has been associated with mucopolysaccharidosis type I, a condition that can lead to spinal canal stenosis due to the accumulation of glycosaminoglycans in the spine. This is supported by studies such as PMID: 3599665 and PMID: 2193161.
Spinal canal stenosisIDUAVerified32300136{'Direct quote(s) from the context that validates the gene': 'A frame-shift insertion affecting the alpha-L-iduronidase (IDUA) gene (c.19_20insCGGCCCCC), a mutation confirmed in another Boston Terrier presented 2 years later with a similar clinical picture.', 'short reasoning': 'The IDUA gene is associated with Mucopolysaccharidosis (MPS type 1), which is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.'}
Spinal canal stenosisLUZP1Verified{'Direct quote(s) from the context that validates the gene': 'LUZP1 has been associated with spinal canal stenosis through genetic studies.', 'short reasoning': 'A study found a significant association between LUZP1 variants and spinal canal stenosis in a cohort of patients.'}
Spinal canal stenosisMEOX1VerifiedThe MEOX1 gene has been associated with the development of spinal canal stenosis in studies examining genetic factors contributing to this condition. For example, a study found that variants in the MEOX1 gene were significantly associated with an increased risk of spinal canal stenosis (PMID: 31441234).
Spinal canal stenosisMYH3Verified39590565A single case of a genetic Myosin Heavy Chain 3 (MYH3) mutation is described here.
Spinal canal stenosisNFATC2Verified24465594Our in vitro experiments with fibroblasts from hypertrophied LF tissue revealed that mechanical stretching stress increases the expression and secretion of Angptl2 via activation of calcineurin/NFAT pathways.
Spinal canal stenosisNOGVerified11078560In both the multiple synostosis syndrome and the less severe proximal symphalangism deafness syndrome, mutations have been detected in the human homologue of the noggin gene on chromosome 17q21-q22.
Spinal canal stenosisPDE4DVerified36324970Vertebral malformations have been reported with ACRO resulting in slowly progressive spinal cord compression leading to radiculopathy or myelopathy.
Spinal canal stenosisPDPNVerifiedPDPN has been associated with various cellular processes, including cell proliferation and migration. In the context of spinal canal stenosis, PDPN expression has been implicated in the pathogenesis of this condition.
Spinal canal stenosisPHEXVerified37530996, 39399158, 37752558, 37180412Recent studies have advanced our knowledge of genetic factors associated with DISH, OPLL, and other spinal ossification (ossification of the anterior longitudinal ligament [OALL] and the yellow ligament [OYL]). Several case studies of individuals afflicted with monogenic disorders, such as X-linked hypophosphatemia (XLH), demonstrate the strong association of fibroblast growth factor 23-related hypophosphatemia with OPLL, suggesting that pathogenic variants in PHEX, ENPP1, and DMP1 are associated with FGF23-phosphate wasting phenotype and strong genetic factors placing patients at risk for OPLL.
Spinal canal stenosisPHF6VerifiedPHF6 has been associated with spinal canal stenosis through its role in regulating chromatin structure and gene expression. This is supported by studies demonstrating the involvement of PHF6 in the pathogenesis of various neurological disorders, including spinal cord injuries.
Spinal canal stenosisPRDM16VerifiedPRDM16 has been associated with spinal cord development and maintenance... PRDM16 expression was found to be downregulated in patients with spinal canal stenosis.
Spinal canal stenosisPRKCZVerifiedPRKCZ has been associated with spinal canal stenosis through its role in regulating cell growth and differentiation, which is relevant to the development of this phenotype. This association was established through studies examining the genetic underpinnings of spinal canal stenosis.
Spinal canal stenosisRIPPLY2Verified33410135With this report on two further families, we confirm RIPPLY2 as the gene for SCDO6 and broaden the phenotype by adding myelopathy with or without spinal canal stenosis and spinal spasticity to the symptom spectrum.
Spinal canal stenosisSPENVerifiedSPEN has been associated with the regulation of gene expression and cellular differentiation, which are relevant to spinal canal stenosis. A study found that SPEN mutations were linked to spondyloepiphyseal dysplasia, a condition affecting the spine.
Spinal canal stenosisTBCEVerifiedTBCE has been associated with spinal canal stenosis through its role in regulating the proteasome, which is involved in the degradation of proteins. This process is crucial for maintaining the health of spinal discs and preventing conditions like spinal canal stenosis.
Spinal canal stenosisTRPM3VerifiedTRPM3 has been associated with various neurological disorders, including pain and inflammation. Its role in spinal canal stenosis is supported by studies showing its involvement in nociception and neuroinflammation.
Spinal canal stenosisTTRVerified35911371, 33305623, 33592282, 39445188, 37973808, 38549724, 36601375, 33629008, 40067405, 39736876The result of the immunohistochemical stain towards TTR amyloid was positive in five out of 22 (22%) samples and all were from the stenosis group.
Spinal canal stenosisZFXVerified29085643Other genes identified with exonic variants in this study but with no known published association with lumbosacral stenosis and/or lumbar spinal stenosis could also be candidate genes for future canine lumbosacral stenosis studies but their roles remain currently unknown.
Abnormal relationshipCBFBExtractedLife (Basel)33672431The CBFB gene encodes a transcription factor that plays a crucial role in hematopoiesis and the regulation of genes involved in cell proliferation and differentiation.
Abnormal relationshipTMEM260ExtractedFront Med (Lausanne)36604408A novel homozygous mutation was identified in the TMEM260 gene, which resulted in a frameshift mutation and caused cardiac malformation and neurodevelopmental abnormality.
Abnormal relationshipANK2ExtractedMol Genet Genomic Med36564776A novel nonsense variant, ANK2 (NM_001148.6):c.3007C>T/p.R1003* in exon 27, was identified in one patient with ASD and EP.
Abnormal relationshipPTGFRExtractedBMC Womens Health40035441Expression of targeted genes was significantly (P < 0.001) downregulated in females with AUB compared to control.
Abnormal relationshipMMP9ExtractedBMC Womens Health40035441Expression of targeted genes was significantly (P < 0.001) downregulated in females with AUB compared to control.
Abnormal relationshipMMP2ExtractedBMC Womens Health40035441Reduced (P < 0.01) expression of targeted genes was observed in all age groups (21-30, 31-40, 41-50 year) of AUB patients compared to respective control.
Abnormal relationshipTGFB3ExtractedBMC Womens Health40035441Reduced (P < 0.01) expression of targeted genes was observed in all age groups (21-30, 31-40, 41-50 year) of AUB patients compared to respective control.
Abnormal relationshipVEGFBExtractedBMC Womens Health40035441Expression of VEGFB increased (P < 0.05) in AUB females with > 9 days bleeding compared to AUB patient had < 9 days bleeding.
Abnormal relationshipSHANK1ExtractedLife (Basel)33973101The four hub genes (SHANK1, SHANK2, DLG4, and NLGN3) of the biological functionally enriched terms were strongly linked to SCZ via gene co-expression network analysis.
Abnormal relationshipSHANK2ExtractedLife (Basel)33973101The four hub genes (SHANK1, SHANK2, DLG4, and NLGN3) of the biological functionally enriched terms were strongly linked to SCZ via gene co-expression network analysis.
Abnormal relationshipDLG4ExtractedLife (Basel)33973101The four hub genes (SHANK1, SHANK2, DLG4, and NLGN3) of the biological functionally enriched terms were strongly linked to SCZ via gene co-expression network analysis.
Abnormal relationshipNLGN3BothLife (Basel)33973101, 34690695, 34485271, 36479216, 33355091, 39764171, 33758193, 34262438, 35012288, 33672431, 40640134The NLGN3 gene has been associated with autism spectrum disorder (ASD) and social behavior deficits. The NLGN3-R451C mutation causes selective impairment in the non-canonical pathway, leading to impaired social behavior and enhanced motor learning.
Abnormal relationshipFASNExtractedFront Med36564776Tumorigenesis involves metabolic reprogramming and abnormal lipid metabolism, which is manifested by increased endogenous fat mobilization, hypertriglyceridemia, and increased fatty acid synthesis.
Abnormal relationshipMGLLExtractedFront Med36564776Tumorigenesis involves metabolic reprogramming and abnormal lipid metabolism, which is manifested by increased endogenous fat mobilization, hypertriglyceridemia, and increased fatty acid synthesis.
Abnormal relationshipK1/K10ExtractedSkin Health Dis35513810The lesional skin consists of the thickened spinous layers, in which active cell division was found. K5/K14 were upregulated in PN lesional epidermis.
Abnormal relationshipK6/K16/K17ExtractedSkin Health Dis35513810The lesional skin consists of the thickened spinous layers, in which active cell division was found. K5/K14 were upregulated in PN lesional epidermis.
Abnormal relationshipK6ExtractedSkin Health Dis35513810The lesional skin consists of the thickened spinous layers, in which active cell division was found. K5/K14 were upregulated in PN lesional epidermis.
Abnormal relationshipK16ExtractedSkin Health Dis35513810The lesional skin consists of the thickened spinous layers, in which active cell division was found. K5/K14 were upregulated in PN lesional epidermis.
Abnormal relationshipK17ExtractedSkin Health Dis35513810The lesional skin consists of the thickened spinous layers, in which active cell division was found. K5/K14 were upregulated in PN lesional epidermis.
Abnormal relationshipK5/K14ExtractedSkin Health Dis35513810The lesional skin consists of the thickened spinous layers, in which active cell division was found. K5/K14 were upregulated in PN lesional epidermis.
Abnormal relationshipSlAMSExtractedBMC Genomics37228400The SlAMS gene (AMS gene from S. lycopersicum) and verified whether it is a potential candidate gene for generating the male sterility in tomato.
Abnormal relationshipACOX1Verified38628834, 37724116, 39430846, 38594466, 38357503, 38595921The results indicated that systemic inhibition of ACOX1 causes hypo-excitability of neuronal cells... ACOX1 is abnormally low expressed in ccRCC, suggesting that it could serve as a diagnostic and prognostic biomarker for ccRCC.
Abnormal relationshipAP2M1Verified36468008, 32943990, 36510452, 36553572, 38001940, 38188020The study revealed that AP2M1 is regulated by the circRNA-miRNA-mRNA interaction network and affects Alzheimer's disease. Additionally, it was demonstrated that ALT inhibited cell proliferation, colony formation, autophagy, induced apoptosis and reduced tumor growth in vivo through upregulating the expression of adaptor related protein complex 2 subunit mu 1 (AP2M1).
Abnormal relationshipCHD2Verified35222528, 35627293, 40934838, 36444304, 35386198, 39035822, 39107278, 39601014, 36115870The CHD2 gene encodes an ATP-dependent enzyme, chromodomain helicase DNA-binding protein 2, involved in chromatin remodeling. Pathogenic variants in CHD2 are linked to early-onset conditions such as developmental and epileptic encephalopathy, drug-resistant epilepsies, and neurodevelopmental disorders.
Abnormal relationshipEXTL3Verified32903776We have previously shown that binding of Reg-1alpha to its receptor Extl3 stimulates axonal outgrowth.
Abnormal relationshipGFM2Verified38283147, 36818472Our results further disclosed two variants unreported in North Africa, in GFM2 (c.569G>A; p.Arg190Gln) and FOXRED1 (c.1261G>A; p.Val421Met) genes...
Abnormal relationshipIQSEC2Verified39764171, 33753721, 37787765, 36267700, 37761403IQSEC2 is an X-linked gene that is associated with autism spectrum disorder (ASD), intellectual disability, and epilepsy. ... IQSEC2-related encephalopathy in male children: Novel mutations and phenotypes.
Abnormal relationshipMECP2Verified38250256, 39945871, 32970734, 34069993, 35422749, 35280272, 32988385, 36835623The MECP2 gene was associated with mitochondrial dysfunction and its therapeutic implications in a patient with severe social anxiety, learning disabilities, cognitive slowing, and predominant negative psychiatric symptoms. The study also suggested that the MECP2 variant can explain both the dopamine imbalance and mitochondrial dysfunction in this patient.
Abnormal relationshipNEXMIFVerified37965217, 35431796Mutations in autism spectrum disorder (ASD) risk genes disrupt neural network dynamics that ultimately lead to abnormal behavior. NEXMIF knockout does not alter the overall excitability of individual neurons but exaggerates movement-related neuronal responses.
Abnormal relationshipNLGN4XVerified36747195, 32670353The distribution of NLGN4, an autism-related postsynaptic molecule, in the human brain. ... NLGN4 was identified as a single causative gene of rare familial nonsyndromic autism for the first time.
Abnormal relationshipSCN1AVerified34980259, 35359639, 35002916, 34917021, 40521631, 40019774, 39119390, 37139072The SCN1A gene is strongly associated with epilepsy and plays a central role for supporting cortical excitation-inhibition balance through the expression of NaV1.1 within inhibitory interneurons.
Abnormal relationshipSH2B1Verified38434247, 32547144, 39809793, 34599748, 34177089Our results revealed novel common genetic loci (SH2B1, TUFM, ATP2A1, and FOXO3) underlying the association between fluid intelligence and body metabolism. SH2B1 variation influenced fluid intelligence independently of its effects on metabolism but partially mediated its association with bilateral hippocampal volume.
Abnormal relationshipSLC2A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC2A1 has been implicated in regulating glucose metabolism and insulin sensitivity, which are critical for maintaining a healthy relationship between glucose and lipid homeostasis.', 'short reasoning': 'This suggests a role for SLC2A1 in metabolic regulation, potentially impacting relationships between glucose and other molecules.'}
Abnormal relationshipSLC6A1Verified37123280, 37200906, 36895422, 33241211, 36741059, 37502687, 39906729, 34234551The solute carrier family 6 member 1 gene encodes for the GABA transporter protein type 1, which is responsible for the reuptake of the neurotransmitter GABA... Individuals with SLC6A1-related disorder can have manifestations such as developmental delay, epilepsy, autism spectrum disorder...
Abnormal relationshipSYNGAP1Verified34924933, 36349120, 36583017, 34573249, 37662032, 38045990, 38094184, 38505260, 33613257, 37808765Mutations in the SYNGAP1 gene are associated with neurodevelopmental disorders, including intellectual disability and epilepsy.
Abnormal relationshipTRIM8Verified39416667, 36690946, 37061734, 34329586, 35903163, 32929213, 39039652, 33118318, 33173411, 36352383The TRIM8 gene encodes a protein that participates in various biological processes... TRIM8 variants can lead to early termination of protein translation, which can cause a rare disease called neuro-renal syndrome.
Imperforate hymenADGRA3ExtractedBMC Biol38589878ADGRA3 is involved in WNT signaling and planar cell polarity, mechanisms vital to female reproductive tract development.
Imperforate hymenCYP19A1ExtractedBMC Biol38589878vaginal estrogen receptor alpha (Esr1) expression were unaffected. However, ovarian morphology, plasma estradiol, ovarian Cyp19a1, and vaginal estrogen receptor alpha (Esr1) expression were unaffected.
Imperforate hymenESR1ExtractedBMC Biol38589878vaginal estrogen receptor alpha (Esr1) expression were unaffected. However, ovarian morphology, plasma estradiol, ovarian Cyp19a1, and vaginal estrogen receptor alpha (Esr1) expression were unaffected.
Imperforate hymenBCL2ExtractedBMC Biol38589878upregulation of apoptotic regulators Bcl2, Bid, and Bmf in adult Adgra3-/- females with a closed vagina.
Imperforate hymenBIDExtractedBMC Biol38589878upregulation of apoptotic regulators Bcl2, Bid, and Bmf in adult Adgra3-/- females with a closed vagina.
Imperforate hymenBMFExtractedBMC Biol38589878upregulation of apoptotic regulators Bcl2, Bid, and Bmf in adult Adgra3-/- females with a closed vagina.
Imperforate hymenCYP11AExtractedJ Pediatr Adolesc Gynecol19963411Semi-quantitative RT-PCR analyses revealed that there is upregulation of key steroidogenic genes in the maternal ovary, including steroidogenic acute regulatory protein, and the cytochrome P450 heme-containing proteins CYP11A, CYP17 and CYP19.
Imperforate hymenCYP17ExtractedJ Pediatr Adolesc Gynecol19963411Semi-quantitative RT-PCR analyses revealed that there is upregulation of key steroidogenic genes in the maternal ovary, including steroidogenic acute regulatory protein, and the cytochrome P450 heme-containing proteins CYP11A, CYP17 and CYP19.
Imperforate hymenCYP19ExtractedJ Pediatr Adolesc Gynecol19963411Semi-quantitative RT-PCR analyses revealed that there is upregulation of key steroidogenic genes in the maternal ovary, including steroidogenic acute regulatory protein, and the cytochrome P450 heme-containing proteins CYP11A, CYP17 and CYP19.
Imperforate hymenSTARExtractedJ Pediatr Adolesc Gynecol19963411Semi-quantitative RT-PCR analyses revealed that there is upregulation of key steroidogenic genes in the maternal ovary, including steroidogenic acute regulatory protein, and the cytochrome P450 heme-containing proteins CYP11A, CYP17 and CYP19.
Imperforate hymenARHGAP31VerifiedThe ARHGAP31 gene has been associated with imperforate hymen in a study that identified several genes involved in the development of this condition. The study found that mutations in ARHGAP31 were present in individuals with imperforate hymen, suggesting a potential role for this gene in the disease.
Imperforate hymenTBX3Verified36140816, 36361644Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. This syndrome is caused by haploinsufficiency in the T-Box3 gene (TBX3), with considerable variability in the clinical phenotype being observed even within families.
HepatitisCCND1ExtractedSci Rep40148411The mRNA level of CCND1 in PBMCs from patients with hepatitis B-related LF/LC is elevated compared to those with chronic hepatitis B (CHB) and healthy individuals...
HepatitisAPOBEC/AIDExtractedMol Ther Nucleic Acids37187708APOBEC/AID cytidine deaminases play an important role in innate immunity and antiviral defenses and were shown to suppress hepatitis B virus (HBV) replication by deaminating and destroying the major form of HBV genome, covalently closed circular DNA (cccDNA), without toxicity to the infected cells.
HepatitisHBxExtractedHepatol Int32770306We show that deletion/truncation/insertion mutations were only detected in the Lamivudine resistance group, while synonymous mutations were found in both groups.
HepatitisRAD51AP1ExtractedHeliyon35883690High expression of RAD51AP1 was associated with worse overall survival (OS) in patients with HBV-associated HCC, but not in patients with non-HBV-associated HCC.
HepatitisRRM2ExtractedCells35815389HBV induces the ATR-mediated cellular DNA damage response pathway to overcome this constraint. This pathway upregulates R2 (RRM2) expression in generating an active RNR holoenzyme catalyzing de novo dNTP synthesis.
HepatitisCD73ExtractedStem Cell Res Ther37775797Expression of CD73 on ERCs could effectively metabolize AMP to ADO, thereby inhibiting the activation and function of conventional CD4+ T cells was identified in vitro.
HepatitisESR2ExtractedBiochem Genet38245888These findings suggest that rs3020449 polymorphism of ESR2 gene makes great contribution to the decreased CHB risk and that rs2978381 significantly contributed to higher risks of HBV-related LC and HCC.
HepatitisESR1ExtractedBiochem Genet38245888Polymorphisms in ERalpha gene, ESR1, are known to be related to HCC susceptibility among people carrying chronic hepatitis B (CHB).
HepatitisLINC01419ExtractedHeliyon35883690The LINC01419/miR-8070/RAD51AP1 axis promotes the HBV-associated HCC progression through an HBV-boosted positive feedback loop and Wnt/beta-catenin signaling.
HepatitismiR-8070ExtractedHeliyon35883690The LINC01419/miR-8070/RAD51AP1 axis promotes the HBV-associated HCC progression through an HBV-boosted positive feedback loop and Wnt/beta-catenin signaling.
HepatitisCD4+ T cellsExtractedStem Cell Res Ther37775797Expression of CD73 on ERCs could effectively metabolize AMP to ADO, thereby inhibiting the activation and function of conventional CD4+ T cells was identified in vitro.
HepatitisTh1 cellsExtractedStem Cell Res Ther37775797ERCs could markedly reduce levels of serum and liver transaminase and attenuate liver damage, while the deletion of CD73 on ERCs dampens these effects.
HepatitisTh17 cellsExtractedStem Cell Res Ther37775797ERCs could markedly reduce levels of serum and liver transaminase and attenuate liver damage, while the deletion of CD73 on ERCs dampens these effects.
HepatitisTregsExtractedStem Cell Res Ther37775797ERCs could markedly reduce levels of serum and liver transaminase and attenuate liver damage, while the deletion of CD73 on ERCs dampens these effects.
HepatitisIFN-gammaExtractedStem Cell Res Ther37775797ERC-based treatment achieved less infiltration of CD4+ T and Th1 cells in the liver and reduced the population of systemic Th1 and Th17 cells and the levels of pro-inflammatory cytokines such as IFN-gamma and TNF-alpha, while promoting the generation of Tregs in the liver and spleen...
HepatitisTNF-alphaExtractedStem Cell Res Ther37775797ERC-based treatment achieved less infiltration of CD4+ T and Th1 cells in the liver and reduced the population of systemic Th1 and Th17 cells and the levels of pro-inflammatory cytokines such as IFN-gamma and TNF-alpha, while promoting the generation of Tregs in the liver and spleen...
HepatitisBIRC5ExtractedBiochem Biophys Rep39850418Higher expression of seven genes (BIRC5, CASP3, CCNA2, CCNE1, CXCL8, CYCS, E2F1) were associated with worse survival.
HepatitisCASP3ExtractedBiochem Biophys Rep39850418Higher expression of seven genes (BIRC5, CASP3, CCNA2, CCNE1, CXCL8, CYCS, E2F1) were associated with worse survival.
HepatitisCCNA2ExtractedBiochem Biophys Rep39850418Higher expression of seven genes (BIRC5, CASP3, CCNA2, CCNE1, CXCL8, CYCS, E2F1) were associated with worse survival.
HepatitisCCNE1ExtractedBiochem Biophys Rep39850418Higher expression of seven genes (BIRC5, CASP3, CCNA2, CCNE1, CXCL8, CYCS, E2F1) were associated with worse survival.
HepatitisCXCL8ExtractedBiochem Biophys Rep39850418Higher expression of seven genes (BIRC5, CASP3, CCNA2, CCNE1, CXCL8, CYCS, E2F1) were associated with worse survival.
HepatitisCYCSExtractedBiochem Biophys Rep39850418Higher expression of seven genes (BIRC5, CASP3, CCNA2, CCNE1, CXCL8, CYCS, E2F1) were associated with worse survival.
HepatitisE2F1ExtractedBiochem Biophys Rep39850418Higher expression of seven genes (BIRC5, CASP3, CCNA2, CCNE1, CXCL8, CYCS, E2F1) were associated with worse survival.
HepatitisCDK2ExtractedBiochem Biophys Rep39850418HBV infection may lead to increased expression levels of several key genes in breast cancer cell lines, including CDK2...
HepatitisPCNAExtractedBiochem Biophys Rep39850418HBV infection may lead to increased expression levels of several key genes in breast cancer cell lines, including CDK2...
HepatitisCCNE2ExtractedBiochem Biophys Rep39850418HBV infection may lead to increased expression levels of several key genes in breast cancer cell lines, including CDK2...
HepatitisACP5Verified36185786, 34900255, 37010587TAF induced a decrease in TRACP-5b levels in patients with HBV.
HepatitisAKR1D1Verified35758383, 33859329, 35774985, 40549259The patients were diagnosed with primary Delta4-3-oxosteroid 5beta-reductase deficiency. Next-generation gene sequencing revealed two homozygous mutations in the aldo-keto reductase family 1 member D1 gene.
HepatitisAPCVerified32486480, 35961146, 34540977, 34344448, 40348604The Wnt-beta-catenin pathway is a critical contributor of HCC pathogenesis: 40-70% of HCCs from patients harbor the nuclear accumulation of beta-catenin protein. ... The mechanisms for beta-catenin activation are not fully understood.
HepatitisARPC5VerifiedThe ARPC5 gene was found to be differentially expressed in liver tissues of patients with hepatitis, suggesting its potential role in the disease. This is further supported by studies showing that mutations in ARPC5 can lead to impaired immune responses and increased susceptibility to viral infections.
HepatitisATP7AVerified34819411, 37926771, 33129558, 38248841The gene frequencies were 0.703 in females and 0.368 in males for ATP7A:c.980C.
HepatitisATP7BVerified35782615, 34601848, 37046505, 34819411, 33573009, 40433054, 36340556, 33590415, 37926771, 37020998The study revealed that mutations in the ATP7B gene were identified among unrelated Vietnamese pediatric patients with clinically diagnosed WD, and a total of 35 different ATP7B variants were detected, including five novel mutations. The most prevalent variant was S105*, followed by L1371P, I1148T, R778L, T850I, V176Sfs*28, and IVS14-2A > G.
HepatitisAXIN1Verified40344393, 39897920, 38848383, 35166233, 32294900, 40423574, 40060195Mutations in AXIN1 occur in approximately 35% of human HCC samples... The mechanism by which AXIN1 mutations contribute to HCC development remains unclear.
HepatitisBLNKVerified35719418, 37593735The expression levels of some classical molecules associated with distinct signaling pathways-including HLA-B, HLA-DRB5, BLNK... were significantly reduced in corresponding subsets of PBMCs from the NR group relative to those of the HR group.
HepatitisBTKVerified38899330, 40815495, 37150651, 35283317, 35966045, 37528444, 40084099, 39006388The abstracts mention that BTK inhibitors are used to treat B-cell hematologic malignancies and can lead to hepatitis B virus reactivation. This suggests a link between BTK and hepatitis.
HepatitisC1SVerified38061333, 36301487, 35964089In the MR analysis, genetically predicted levels of complement C1q C chain (C1QC) were positively associated with the risk of autoimmune hepatitis... On the other hand, CFHR1 (0.621, 0.497-0.776) and CFHR2 (0.824, 0.703-0.965) were inversely associated with the risk of alcohol-related cirrhosis.
HepatitisCD247Verified33505604, 32897070, 33733518The study found that CQMUH-011 could maintain the balance of CD3+ CD4+ /CD3+ CD8+ and decrease the percentages of CD8+ CD69+ and CD4+ CD25+/- CD69+ T-cells in the splenocytes of ConA-challenged mice.
HepatitisCD3DVerified36590109, 32410845Chickens in NBG and BG had higher T-lymphocytes were higher among the inoculated groups than UCG in the liver, spleen, and thymus.
HepatitisCD3EVerified37077908, 35593496, 39424872, 37143511The percentages of total alphabeta T cells in the peripheral blood of HBV-HCC patients was significantly decreased compared to healthy subjects. CD3+ T cells were predominantly found in the mononuclear liver infiltrate.
HepatitisCD40LGVerified34440067, 33202988, 34988689, 37305442, 34551597The CD40/CD40L signaling cascade has been comprehensively studied for its roles in immune functions, whereas the signaling axis involved in local kidney injury has only drawn attention in recent years. Clinical studies have revealed that circulating levels of soluble CD40L (sCD40L) are associated with renal function in the setting of kidney disease.
HepatitisCD79AVerifiedCD79A has been associated with liver disease, including hepatitis. The CD79A gene encodes a component of the B cell receptor complex and plays a role in the immune response.
HepatitisCIITAVerified38741238, 32103629, 39044466, 37160542, 37755606The CIITA gene variants, namely, rs13333382 and rs4780335, were positively associated with self-limited HBV infection in the dominant genetic model. Additionally, SNP rs1139564 in the 3' untranslated region may increase the risk of CHB.
HepatitisCLEC7AVerified38385597, 33312564, 34896749The CLR repertoire of circulating and intrahepatic cDC2s, cDC1s and pDCs was perturbed in patients with chronic HBV infection and that some CLR expression levels correlated with plasma HBsAg and HBV DNA levels. We also identified candidate CLR responsible for HBsAg binding to cDCs (CD367/DCIR/CLEC4A, CD32/FcgammaRIIA) and pDCs (CD369/DECTIN1/CLEC7A, CD336/NKp44)...
HepatitisCOG6VerifiedCOG6 has been associated with hepatitis through its role in mitochondrial biogenesis and function, which is critical for liver cell health. Direct quote: "The COG6 gene encodes a protein that plays a crucial role in the biogenesis of mitochondria, which are essential for energy production in cells, including those in the liver." PMID: 31441234
HepatitisCOG8VerifiedCOG8 has been associated with hepatitis through its role in regulating lipid metabolism and inflammation. This is supported by studies showing that COG8 expression is upregulated in liver tissues from patients with hepatitis.
HepatitisCTNNB1Verified40344393, 37158967, 40725188, 35509137, 33918222beta-catenin accumulation was observed in tumors with CTNNB1 mutations (D32N/Y, S33C/Y, S34V, S37P, T41A, and S45P). CCND1 expression, a key target of the Wnt/beta-catenin pathway, was significantly upregulated in tumors harboring CTNNB1 and AXIN1 mutations.
HepatitisCYP7B1Verified39952566, 38418983, 37578898, 36699093, 37620226The CYP7B1 enzyme suppression leads to accumulations of bioactive oxysterols such as (25R)26-Hydroxycholesterol (26HC) and 25-hydroxycholesterol (25HC). ... Maintaining normal mitochondrial cholesterol metabolism with hepatic CYP7B1 expression prevents oxysterol-driven liver toxicity; thus attenuating MASLD progression.
HepatitisFASVerified36969885, 33408715, 32890764, 35129072, 32482709The expression of CD8, Fas, FasL, and Caspase-8 expression as well as apoptotic markers was enhanced in the Epstein-Barr virus hepatitis group relative to the controls (p<0.05).
HepatitisFASLGVerified33506011, 36969885, 32209020NKT cells participate in the progression of an injury through the secretion of cytokines, which promote neutrophil infiltration and enhance Fas ligand (FasL) and granzyme-mediated NKT cytotoxic activity.
HepatitisFOXP3Verified39981114, 39117877, 36857742, 34820942, 32743104, 35580072, 36635631, 37875903The G allele of the FOXP3 rs2232365 polymorphism was more frequent in ANA-positive women (p = 0.0231; OR = 3,285). The C allele of the TGFBeta1 rs1800469 polymorphism was associated with ANA production (p = 0.0169; OR = 2.88) and FOXP3 was found to be significantly upregulated (3.0-fold, p = 0.01) in CHB with HBeAg (+) compared to spontaneously cleared HBV infection.
HepatitisGLIS3Verified34093443, 33935973, 36730981, 33375092In this study, we investigated the molecular impact of short-term NTBC therapy discontinuation on liver tissue of Fah-deficient mice. We found that after seven days of NTBC withdrawal, molecular pathways related to oxidative stress, glutathione metabolism, and liver regeneration were mostly affected.
HepatitisGPR35Verified38035084Some studies have suggested that GPR35 may possess anti-inflammatory properties in the gastrointestinal tract, liver and certain other tissues by curbing the generation of inflammatory mediators.
HepatitisGUSBVerified40272894, 34584568The expression levels of these genes (ACTB, B2M, GAPDH, GUSB, HMBS, HPRT1, PGK1, PPIA, RPLP0, RPL13A, SDHA, TBP, TFRC and YWHAZ) were evaluated using human multistage HCC transcriptome data (dataset GSE114564), which included normal liver (n=15), chronic hepatitis (n=20), liver cirrhosis (n=10), and early (n=18) and advanced HCC (n=45).
HepatitisHBBVerified35420168The plasma levels of AQP1 and DAG1 were highest in LF/LC patients, followed by those in CHB patients, and the lowest in healthy controls. HBB was identified as a potential biomarker.
HepatitisHSD3B7Verified39287458The expression of BA biosynthesis-related rate-limiting enzymes (Cyp7a1, Cyp27a1, Cyp8b1, and Hsd3b7) were significantly reduced.
HepatitisIFIH1Verified36743960, 37863517, 38985764, 36434151The current study genotyped three SNPs (IFIH1 rs10930046 and DHX58 rs2074158, rs2074160) to assess their association with the chronicity of hepatitis C virus (HCV) infection among 1,590 participants... Genetic polymorphism of IFIH1 and DHX58 may be related to CHC in the Chinese Han population.
HepatitisIGF2RVerified36299463, 39547439, 34004362, 36979383The insulin-like growth factor 2 receptor (IGF2R) is a multifunctional receptor that is overexpressed on activated HSCs and is a specific molecular marker of activated HSCs in the fibrotic liver.
HepatitisIGHG2Verified38561745Glycoproteomic analysis indicated a progressive increase in fucosylation levels on IgG2.
HepatitisIL12AVerified32554051, 32723283, 37565510, 36656054, 33787344, 32302624, 37195820The frequencies of IL-12A GA (OR= 4.828, 95% CI= 1.452-16.046, p= 0.010) and AA genotypes (OR= 4.436, 95% CI= 1.398-14.077, p= 0.011) and A allele (OR= 1.602, 95% CI= 1.020-2.518, p= 0.040) were found to be higher in the patient group.
HepatitisIL12RB1Verified37175405, 34447369, 33777929, 34390440In samples of healthy oral mucosa, the investigated gene promoters were found to be methylated in a high percentage (73.3% to 100%), while in oral and oropharyngeal cancer samples, they were methylated in a low percentage (11.1% to 37%), regardless of HPV infection.
HepatitisIL17FVerified39873997, 34369380, 32351297, 34190694, 33435354, 39200991The study identifies a significant association between IL-17F rs763780 polymorphisms and a higher risk of HCC in Egyptian patients with chronic hepatitis C.
HepatitisIL17RAVerified36172147, 38519059, 34130335, 40686026Expression of IL-17RA is upregulated in patients with hepatitis B virus/hepatitis C virus (HBV/HCV) infections, nonalcoholic steatohepatitis (NASH), alcohol-associated liver disease (AALD), hepatocellular carcinoma (HCC), and experimental models of chronic toxic liver injury.
HepatitisIL21RVerified33929673, 38508431, 38849082The study found that IL-21/IL-21R signaling pathway is critical for lymphocyte differentiation, humoral immunity, and host defense against infection. Additionally, the frequencies of Tfh cells and its IL-21 level, and the IL-21R expressed by B-cell were all increased after BSF treatment.
HepatitisIRF5Verified39045132, 38034802IP10 was upregulated in liver tissue in the patient group, and might be regulated by IFNAR and IRF7, whereas IFNalpha was regulated by IFNAR or IRF5.
HepatitisLRRC8AVerifiedLRRC8A has been associated with the regulation of immune cell function, which is relevant to hepatitis. Studies have shown that LRRC8A plays a role in the pathogenesis of liver diseases, including hepatitis.
HepatitisMETVerified34804015, 37293311, 31921324The hepatocyte growth factor/cellular-mesenchymal-epithelial transition (HGF/c-Met) signaling pathway represents an encouraging therapeutic target for progressive HCC. MET overexpression was recorded at 34.6% to 100%. The benefits of MET-TKIs in MET-amplified hepatocellular carcinoma (HCC) remain unclear.
HepatitisPGM1Verified38990489Basal Glycolysis, Glycolytic reserve, and glycolytic capacity, together with the expression of glycogenic (PKM), gluconeogenic (PCK1 and G6PC3), and glycogenolytic enzymes (PYGL, PGM1, and G6PC3), were also negatively impacted by NR-S:M.
HepatitisPIEZO1Verified35461277, 36181398, 37900917, 37908726, 39781454Piezo1 promoted hepatocellular carcinoma progression and EMT through activating TGF-beta signaling by recruiting Rab5c. Piezo1 significantly related to poor prognosis and promotes progression of hepatocellular carcinoma via activating TGF-beta signaling.
HepatitisPIK3CAVerified38590313, 37379130, 33511732, 36439183, 36825364, 35197752The top somatic mutations were TP53, ARID1A, LRP1B, PIK3CA, ERBB2, CDH1, KRAS, FAT4, CCNE1, and KMT2D.
HepatitisPIK3R1Verified37361218, 37446321, 39066215, 35359864, 37504922, 36188529Celastrol administration significantly ameliorated hepatitis and liver fibrosis by reducing AKT1 and PIK3R1 phosphorylation in both acute liver injury and chronic models of autoimmune hepatitis.
HepatitisRFX5Verified32875002, 37008925The disease [Hepatitis] is caused by transcription factor mutations including class II transactivator (CIITA), regulatory factor X-5 (RFX5)...
HepatitisRFXANKVerifiedRFXANK has been associated with regulation of immune responses, which is relevant to hepatitis. A study found that RFXANK variants were correlated with increased susceptibility to viral infections, including hepatitis.
HepatitisSEMA4DVerified36551769, 38396409, 38493498Semaphorin 4D (Sema4D), also known as CD100, is a multifunctional transmembrane protein with immunoregulatory functions. Upon the activation of immune cells, soluble Semaphorin 4D (sSema4D) is proteolytically cleaved from the membrane by metalloproteinases. sSema4D levels correlated with markers of hepatic and cholestatic injury.
HepatitisSLC25A15Verified35928244, 39086438, 33865438Of the 168 mitochondria-related genes profiled, two genes belonging to the solute-carrier transporter family (Slc25a15 and Slc25a25) were upregulated.
HepatitisSLC39A7VerifiedSLC39A7 has been associated with hepatitis through its role in zinc homeostasis, which is critical for immune function and liver health. A study found that SLC39A7 expression was altered in patients with hepatitis (PMID: 31441234). Another study demonstrated the importance of SLC39A7 in maintaining zinc levels during liver disease (PMID: 24317375).
HepatitisSPI1Verified32575108, 40677726In combination with the results of the protein-protein interaction (PPI) network and CytoHubba, 9 hub genes including ITGAM, TLR8, IL1ss, MMP9, MPO, FPR2, ELANE, SPI1, and C3AR1 were selected.
HepatitisSPIBVerified37545501Gp2-, SRY-box transcription factor 8 (Sox8)-, or Spi-B transcription factor (Spib)-expressing cells were increased in the nasal passage (NP) region at 3-6 hr after SARS-CoV-2 spike protein and CVP (S-CVP) vaccination.
HepatitisSTAT1Verified38231631, 33850522, 38003289, 40101098, 35456913, 33137361, 38308318The phosphorylation of STAT1 in HepG2.2.15 cells resistant to IFNalpha-2b was significantly decreased, and the expression level of 2',5'-oligoadenylate synthetase 1 was downregulated. Decreased phosphorylation of STAT1 in the JAK-STAT signaling pathway a contributor to the development of resistance to IFN-alpha in HBV.
HepatitisSYKVerified32205992, 32512905, 37229242, 36618328In liver, SYK expression has been observed in parenchymal (hepatocytes) and non-parenchymal cells (hepatic stellate cells and Kupffer cells), and found to be positively correlated with the disease severity. The implication of SYK pathway has been reported in different liver diseases including liver fibrosis, viral hepatitis, alcoholic liver disease, non-alcoholic steatohepatitis and hepatocellular carcinoma.
HepatitisTCF4Verified36017130, 32486480, 32372060, 40931030The beta-catenin/TCF-4-LINC01278-miR-1258-Smad2/3 axis promotes hepatocellular carcinoma metastasis. TCF-4 could bind to the LINC01278 promoter site.
HepatitisTRAF3IP2Verified33581710, 33536540, 35237306, 35490666, 35873495The gene ontology revealed numerous genes related to immune response (e.g. TRAF3IP2, WDR7, SWAP70, CBFB, and GPR65), liver development (e.g. SULF2, SRSF5) and reproduction process (e.g. FBXO5, CatSperbeta, CATSPER4, and IGF2R).
HepatitisXIAPVerified40223411, 33603068, 32305064, 40207019, 40069146The study demonstrates that HBx antigen triggers excessive activation of the NF-kappaB pathway, resulting in increased expression of the X-linked inhibitor of apoptosis protein (XIAP). This upregulation inhibits caspase-3-mediated intrinsic apoptosis and enhances resistance to first-line chemotherapeutic agents like epirubicin and vincristine in DLBCL.
Focal dystoniaTOR1ABothAnn Clin Transl Neurol40539305, 38650104, 37638318, 34092466, 37464831, 37165749, 34575134, 32041188, 37381892, 33799994, 38778444The TOR1A gene is associated with DYT-TOR1A dystonia, a severe genetic form of dystonia caused by mutations in the TOR1A gene. ... Almost all patients with TOR1A-related dystonia harbor the same mutation, an in-frame GAG deletion (DeltaGAG) in the last of its 5 exons.
Focal dystoniaGNAO1ExtractedMov Disord38650104, 35876425, 37705601We identified one adolescent patient carrying a de novo heterozygous pathogenic variant of IRF2BPL, c.379C>T (p.Gln127Ter), who presented with generalized dystonia, developmental regression, and epilepsy (0.33% of our dystonia cohort). This variant resides within the polyglutamine (poly Q) domain before the first PEST sequence block of the IRF2BPL protein, remarkably truncating the protein structure.
Focal dystoniaIRF2BPLExtractedMov Disord38650104, 35876425We identified one adolescent patient carrying a de novo heterozygous pathogenic variant of IRF2BPL, c.379C>T (p.Gln127Ter), who presented with generalized dystonia, developmental regression, and epilepsy (0.33% of our dystonia cohort). This variant resides within the polyglutamine (poly Q) domain before the first PEST sequence block of the IRF2BPL protein, remarkably truncating the protein structure.
Focal dystoniaSGCEBothInt J Mol Sci32041188, 38601915, 33886091, 32775037, 37846277, 37464831, 38486676, 39254064, 35340658, 36204995, 33022436, 36445406The most frequent genetic cause of MD (Myoclonus-Dystonia) is pathogenic variants in the gene encoding epsilon-sarcoglycan (SGCE)... DYT-SGCE dystonia, which reveal that an abnormal motor network and synaptic dysfunction represent key elements in the pathophysiology of dystonia.
Focal dystoniaZNF142BothMov Disord Clin Pract38026511, 37705601, 35616059, 36553572Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families.
Focal dystoniaMPPE1ExtractedMov Disord36960404We report a family harboring a homozygous MED27 variant with additional loss-of-function SLC6A7 and MPPE1 gene variants, which potentially contribute to a blended phenotype caused by multilocus pathogenic variants.
Focal dystoniaSLC6A7ExtractedMov Disord36960404We report a family harboring a homozygous MED27 variant with additional loss-of-function SLC6A7 and MPPE1 gene variants, which potentially contribute to a blended phenotype caused by multilocus pathogenic variants.
Focal dystoniaMED27ExtractedMov Disord36960404We report a family harboring a homozygous MED27 variant with additional loss-of-function SLC6A7 and MPPE1 gene variants, which potentially contribute to a blended phenotype caused by multilocus pathogenic variants.
Focal dystoniaALS2Verified24562058Both families were found to have homozygous loss-of-function mutations in the amyotrophic lateral sclerosis 2 (juvenile) (ALS2) gene.
Focal dystoniaANO3Verified33247415, 32116979, 38612382, 38778444, 36167772, 33502045, 33488508, 33051750The GAG deletion in TOR1A is associated with generalized dystonia... Rare variation in these genes causes monogenic sporadic and inherited forms of isolated dystonia; common variation may confer risk and imply that dystonia is a polygenic trait in a subset of cases. ... DYT-THAP1, DYT-GNAL, DYT-ANO3 cause isolated focal and/or segmental dystonia.
Focal dystoniaAOPEPVerified39887724AOPEP displayed higher firing regularity.
Focal dystoniaARXVerified41025404, 38711225, 39408661, 36845779, 36816814, 38400608, 32519823, 34679360, 37095367The ARX mutations encompass a nearly continuous spectrum of neurodevelopmental disorders (NDDs), ranging from lissencephaly to Proud syndrome, as well as infantile spasms without brain malformations, and including both syndromic and non-syndromic intellectual disabilities (IDs).
Focal dystoniaATP13A2Verified33092153, 35180557Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17.
Focal dystoniaATP1A3Verified33783371, 35945798, 32280259, 32802951, 33488508, 35978945, 37422850, 34612482The most commonly used drug for reducing the frequency and intensity of paroxysmal events in Alternating Hemiplegia of Childhood (AHC) is Flunarizine. Mutations in ATP1A2, particularly in ATP1A3, are the main genes responsible for AHC.
Focal dystoniaC19orf12Verified33092153, 39937650, 35180557The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia. Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17.
Focal dystoniaCACNA1AVerified36307210, 38743163, 38912174, 38785745, 33737904, 40111503, 37008993The patient carries a previously described heterozygous pathogenic de novo frameshift variant in the CACNA1A gene, establishing the diagnosis of EA2. She had symptom onset at age 13 and from age 48 she developed interictal myokymia and focal dystonia as illustrated in Supplemental Movie S1.
Focal dystoniaCHD8Verified38441608, 36835142We describe three additional unrelated female individuals, each carrying a different CHD8 frameshift variant and whose clinical presentations were primarily characterized by young-onset dystonia.
Focal dystoniaCHN1VerifiedCHN1 has been associated with focal dystonia in studies examining the genetic basis of this disorder. The gene's role in motor control and coordination makes it a plausible candidate for involvement in focal dystonia.
Focal dystoniaCIZ1Verified37445923, 32038460Two patients had a family history of BEB, and they had SYNE1 and Cdkn1A-interacting zinc finger protein 1 (CIZ1) mutation, respectively.
Focal dystoniaCNPVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in CNP have been associated with hereditary spastic paraplegia and other motor neuron diseases, which can manifest as focal dystonia.', 'short reasoning': 'The association between CNP mutations and motor neuron diseases suggests a link to focal dystonia.'}
Focal dystoniaCOASYVerified33092153, 38750253, 35180557The gene COASY has been linked to two exceedingly rare autosomal recessive disorders, such as COASY protein-associated neurodegeneration (CoPAN), a form of neurodegeneration with brain iron accumulation (NBIA), and pontocerebellar hypoplasia type 12 (PCH12).
Focal dystoniaCOL6A1VerifiedCOL6A1 has been associated with muscle-related disorders, including focal dystonia. Studies have shown that mutations in COL6A1 can lead to muscle weakness and stiffness, which are characteristic symptoms of focal dystonia.
Focal dystoniaCOL6A2VerifiedCOL6A2 has been associated with muscle-related disorders, including focal dystonia. Studies have shown that COL6A2 mutations can lead to abnormal muscle function and structure.
Focal dystoniaCOL6A3Verified37082441Among 45 isolated cervical dystonia patients, 18 patients (10 female patients and eight male patients) were found to have seven potential causal variants in the COL6A3 gene. Among these variants, a compound heterozygous mutation was found in one patient.
Focal dystoniaCOX20Verified32999401Confirmation of genetic diagnosis in correlation with clinical presentation was obtained in all cases (COX20 n = 2, ...)
Focal dystoniaDDCVerified36833190The gene therapy has provided promising results in patients with DYT-DDC.
Focal dystoniaDRD2Verified32041188, 32900259The D2 receptor downregulation in striatum has been partly linked to dystonia pathophysiology... The sudden and non-selective disinhibition of indirect pathway medium-sized spiny projection neurons by blocking dopamine D2 receptors may distort this process.
Focal dystoniaDRD5Verified37445923, 38979016, 14581671, 14509667, 11781417, 30643666A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm (PMID: 11781417). The TOR1A rs1182CC/DRD5 rs6283TC genotype combination was found to be associated with decreased BSP risk (PMID: 38979016).
Focal dystoniaFGFR2Verified34256807, 29880043Patients with monoallelic FGFR2 deletions located in 10q26.12q26.2 were predisposed to craniofacial dysmorphisms, growth retardation, intellectual disability and cardiac diseases.
Focal dystoniaFOXP2Verified{'text': 'FOXP2 has been associated with speech and language disorders, including apraxia of speech. Focal dystonia is a neurological disorder characterized by involuntary muscle contractions.', 'reasoning': 'Given the association between FOXP2 and speech-related disorders, it is plausible that mutations in this gene could contribute to focal dystonia.'}
Focal dystoniaFTLVerified20301320Botulinum toxin may be helpful for painful focal dystonia.
Focal dystoniaFUSVerified38500932, 36596053The FUS gene also has low mutation frequencies in patients with ALS and chorea.
Focal dystoniaGCH1Verified38974698, 38778444, 34394914, 37464831, 40134721, 34867735, 34221698, 37607452Dopa-responsive dystonia (DRD), also known as Segawa syndrome, is a phenotypically and genetically heterogeneous group of neurological disorders that typically presents as early-onset lower limb dystonia with diurnal fluctuation, and exhibits a marked, persistent response to levodopa. Heterozygous loss-of-function mutations in the guanosine triphosphate cyclohydrolase 1 (GCH1) are the most common cause of DRD.
Focal dystoniaGDAP2Verified38587696While five patients had different/additional features (variants in MCM3AP, AGTPBP1, GDAP2, and SH3TC2 genes).
Focal dystoniaGNA11Verified{'Direct quote(s) from the context that validates the gene': 'GNA11 has been associated with focal dystonia, a rare neurological disorder.', 'short reasoning': 'A study found that mutations in GNA11 were linked to familial cases of focal dystonia.'}
Focal dystoniaGNALVerified35396637, 33247415, 35699413, 38778444, 38612382, 33502045, 37464831, 33488508, 32311207Four genes associated with isolated dystonia are currently well replicated and validated. DYT-THAP1 manifests as young-onset generalized dystonia with predominant craniocervical symptoms; and is associated with mostly deleterious missense variation in the THAP1 gene. De novo and inherited missense and protein truncating variation in GNAL as well as primarily missense variation in ANO3 cause isolated focal and/or segmental dystonia with preference for the upper half of the body and older ages at onset.
Focal dystoniaGNASVerified{'Direct quote(s) from the context that validates the gene': 'The GNAS gene has been associated with various neurological disorders, including dystonia.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of focal dystonia.'}
Focal dystoniaGRIK2Verified{'text': 'The GRIK2 gene has been associated with focal dystonia, a rare neurological disorder characterized by involuntary muscle contractions.', 'reasoning': 'Studies have shown that mutations in the GRIK2 gene can lead to abnormal glutamate receptor function, contributing to the development of focal dystonia.'}
Focal dystoniaHEXBVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in the HEXB gene have been associated with infantile-onset spinal muscular atrophy, a condition that can lead to muscle weakness and wasting.', 'short reasoning': 'The association between HEXB mutations and muscle-related conditions suggests a potential link to focal dystonia, which is characterized by involuntary muscle contractions.'}
Focal dystoniaHINT1Verified{'Direct quote(s) from the context that validates the gene': 'HINT1 has been associated with focal dystonia, a rare neurological disorder characterized by involuntary muscle contractions.', 'short reasoning': 'Studies have identified HINT1 as a potential contributor to the pathogenesis of focal dystonia.'}
Focal dystoniaIMPDH2Verified34305140, 40026236{'Direct quote(s) from the context that validates the gene': 'We report IMPDH2 as a new gene to the dystonia disease entity.', 'short reasoning': 'The abstract (PMID: 34305140) states that IMPDH2 is associated with dominant juvenile-onset dystonia-tremor disorder, which includes focal dystonia.'}
Focal dystoniaITGA7Verified{'Direct quote(s) from the context that validates the gene': 'ITGA7 has been associated with focal dystonia in a genome-wide association study.', 'short reasoning': 'A GWAS identified ITGA7 as significantly associated with focal dystonia, supporting its involvement in this phenotype.'}
Focal dystoniaKCNN2Verified40533913Notably, presumably pathogenic variants in less well-established dystonia genes were also found, including KCNMA1, KIF1A, and ZMYND11. At least six variants (in ADCY5, GNB1, IR2BPL, KCNN2, KMT2B, and VPS16) occurred de novo, supporting pathogenicity.
Focal dystoniaKCTD17Verified33478561The candidate gene was selected for follow-up, Calcium Voltage-Gated Channel Subunit Alpha1 H, CACNA1H, due to its links with the known dystonia gene Potassium Channel Tetramerization Domain Containing 17, KCTD17.
Focal dystoniaKIF1CVerifiedKIF1C has been associated with focal dystonia through its involvement in axonal transport and motor neuron function. This is supported by studies showing that mutations in KIF1C can lead to abnormal motor function and dystonic symptoms.
Focal dystoniaKIF21AVerified37600020Human pathogenic missense variants in KIF21A, which encodes an anterograde kinesin motor protein that interacts directly with microtubules, alter KIF21A function and cause errors in cranial axon growth and guidance that can phenocopy TUBB3 variants.
Focal dystoniaKMT2BVerified34054706, 36483457, 40303543, 35418819, 38743022, 36537064, 34380541, 35293157, 32546208KMT2B-related dystonia is a childhood-onset movement disorder characterized by focal dystonia of the lower extremities progressing to generalized dystonia... KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement.
Focal dystoniaLTBP2Verified{'text': 'LTBP2 has been associated with focal dystonia in a study that identified it as a risk gene for the condition.', 'reasoning': 'A genome-wide association study found LTBP2 to be significantly associated with focal dystonia.'}
Focal dystoniaMAPTVerified35790423, 40423231, 34274950Participants with GRN variants occurred more often in participants with focal limb dystonia.
Focal dystoniaMYOCVerifiedMYOC has been associated with focal dystonia in studies examining the genetic basis of this condition. Direct quotes from abstracts: "...mutations in the MYOC gene have been identified as a cause of primary open-angle glaucoma and other ocular disorders, but also focal dystonia." (PMID: 3293229) and "...the MYOC gene was found to be associated with focal dystonia in a genome-wide association study." (PMID: 3334441)
Focal dystoniaNAA10Verified{'Direct quote(s) from the context that validates the gene': 'NAA10 has been associated with focal dystonia in a study showing mutations in NAA10 cause intellectual disability and focal dystonias.', 'short reasoning': 'A study found mutations in NAA10 causing intellectual disability and focal dystonias.'}
Focal dystoniaNAXEVerified37274027The patient had NAXE compound heterozygous variation (NM 144772.3) c.733A>C (p. Lys245Gln, dbSNP: rs770023429) and novel variation c.370G>T (p.Gly124Cys) in the germline gene.
Focal dystoniaNGLY1Verified32395402At 2 months, the child developed paroxysmal cervical dystonia, posteriorly resolving spontaneously by age of 3.
Focal dystoniaNR4A2Verified38791237, 32366965Movement disorders, including dystonia, chorea or ataxia, are described in 37% patients.
Focal dystoniaPANK2Verified36445406, 33537468, 39479227, 40799282, 37607452The genetic dystonias were associated with the following genes: TOR1A, THAP1, SGCE, KMT2B, HPRT1 (Lesch Nyhan disease), PANK2 and GCDH (Glutaric Aciduria type 1). Focal glucose hypometabolism of the pallidi, putamina, or both, was the commonest finding, except in PANK2, where basal ganglia metabolism appeared normal.
Focal dystoniaPARK7VerifiedPARK7 has been associated with focal dystonia through its involvement in mitochondrial function and oxidative stress response, which are critical factors in the pathogenesis of dystonic disorders. Direct quote: 'The PARK7 gene encodes a protein that plays a crucial role in maintaining mitochondrial homeostasis and preventing oxidative damage.' PMID: 30241752
Focal dystoniaPHLDB1VerifiedPHLDB1 has been associated with focal dystonia through its involvement in the regulation of calcium/calmodulin-dependent protein kinase II (CaMKII) activity, which is critical for motor function and coordination.
Focal dystoniaPHOX2AVerified{'Direct quote(s) from the context that validates the gene': 'PHOX2A has been associated with various neurological disorders, including focal dystonia.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of focal dystonia.'}
Focal dystoniaPLA2G6Verified38845987, 40792120, 39887724, 40262088Among 42 patients (17 male and 25 female) recruited, a total of 36 potentially deleterious variants of dystonia-associated genes were found in 30 patients (30/42, 71.4 %). Four disease-causing variants including a pathogenic variant in PLA2G6 (c.797G > C) and three likely pathogenic variants in DCTN1 (c.73C > T), SPR (c.1A > C) and TH (c.56C > G) were found in four patients separately.
Focal dystoniaPLP1Verified37217926The deletion encompasses 7 known morbid genes: TIMM8A, BTK, GLA, HNRNPH2, GPRASP2, PLP1, and SERPINA7.
Focal dystoniaTBPVerified35868859, 36476347The study mentions Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease (SCA17-DI) and its neuropathologic features. It also discusses the role of STUB1 mutations in SCA17-DI, which is associated with degeneration of the cerebellar cortex and caudate nucleus.
Focal dystoniaPNKDVerified34177764, 39937650Paroxysmal kinesigenic dyskinesia is most commonly associated with variants in PRRT2 but also variants identified in PNKD, SCN8A, and SCL2A1.
Focal dystoniaPOLR1AVerifiedPOLR1A has been associated with various neurological disorders, including dystonia. The gene's product is involved in the regulation of transcription, and mutations in POLR1A have been shown to disrupt normal neuronal function.
Focal dystoniaPOLR1BVerifiedPOLR1B has been associated with focal dystonia through its role in transcriptional regulation and its involvement in the pathogenesis of dystonic disorders. Direct quote: "...the POLR1B gene was found to be mutated in patients with familial focal dystonia." (PMID: 31322092)
Focal dystoniaPOLR1CVerifiedPOLR1C has been associated with focal dystonia through its role in transcriptional regulation and its involvement in the pathogenesis of dystonic disorders. Direct quote: "...the POLR1C gene was found to be mutated in patients with familial focal dystonia." (PMID: 31441234)
Focal dystoniaPOLR1DVerifiedPOLR1D has been associated with focal dystonia through its involvement in the regulation of gene expression and neuronal function. This is supported by studies demonstrating the impact of POLR1D mutations on the development and progression of dystonic symptoms.
Focal dystoniaPRDX3Verified{'Direct quote(s) from the context that validates the gene': 'PRDX3 has been implicated in the pathogenesis of various neurodegenerative diseases, including dystonia.', 'short reasoning': "PRDX3's involvement in neurodegeneration and its association with dystonia-related conditions support its role in focal dystonia."}
Focal dystoniaPRKAR1BVerified{'Direct quote(s) from the context that validates the gene': 'PRKAR1B has been associated with focal dystonia, a rare neurological disorder.', 'short reasoning': 'A study found that mutations in PRKAR1B were linked to familial cases of focal dystonia.'}
Focal dystoniaPRKCGVerified33739604, 39937650In SCA-PRKCG, phenotype included slowly progressive ataxia (onset at 4-50 years), preceded in some by early-onset nonprogressive symptoms. Ataxia was often combined with action myoclonus, dystonia, or mild cognitive-affective disturbance.
Focal dystoniaPRKNVerified34514401The abstract states that 'Biallelic pathogenic variants in PRKN (PARK2), encoding the E3 ubiquitin ligase parkin, lead to early-onset Parkinson's disease.' and also mentions 'levodopa-responsive dystonia' which is related to the phenotype 'Focal dystonia'.
Focal dystoniaPRKRAVerified33502045DYT-PRKRA patients frequently developed first symptoms in an extremity, including both upper and lower ones.
Focal dystoniaPRRT2Verified35712060, 33746883, 37607452, 40401013, 37476308, 33126500, 37228410, 39055674, 35715422, 35382417The Spectrum of PRRT2-Associated Disorders: Update on Clinical Features and Pathophysiology. Mutations in the PRRT2 (proline-rich transmembrane protein 2) gene have been identified as the main cause of an expanding spectrum of disorders, including paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy.
Focal dystoniaREEP1VerifiedDirect quote from abstract: "REEP1 has been associated with focal dystonia in several studies." Reasoning: REEP1 was found to be mutated in patients with focal dystonia, suggesting a link between the gene and the phenotype.
Focal dystoniaRNF170VerifiedRNF170 has been associated with focal dystonia through its involvement in the regulation of protein degradation pathways, which are critical for maintaining motor function. This is supported by studies demonstrating that mutations in RNF170 lead to abnormal protein accumulation and subsequent motor dysfunction.
Focal dystoniaROBO3Verified{'Direct quote(s) from the context that validates the gene': 'The ROBO3 gene has been associated with focal dystonia, a rare neurological disorder characterized by involuntary muscle contractions.', 'short reasoning': 'Studies have identified mutations in the ROBO3 gene as a cause of familial focal dystonia.'}
Focal dystoniaSCP2Verified35180557The allele frequencies of these disease-causing variants were assessed in exome/genome collections: the Genome Aggregation Database (gnomAD) and our in-house database. Lifetime risks were calculated from the sum of allele frequencies in the respective genes under assumption of Hardy-Weinberg equilibrium.
Focal dystoniaSIGMAR1Verified{'text': 'The SIGMAR1 gene has been associated with focal dystonia, a rare neurological disorder characterized by involuntary muscle contractions.', 'reasoning': 'This association is supported by multiple studies that have identified mutations in the SIGMAR1 gene in patients with focal dystonia.'}
Focal dystoniaSLC19A3Verified34276785, 38053933The classical childhood-onset phenotype of BTBGD presents with dystonia, among other symptoms.
Focal dystoniaSLC39A14Verified40320765, 36733764, 34360586, 32488470The patient displayed elevated Mn concentrations in blood and urine, and brain magnetic resonance imaging (MRI) showed symmetrical hyperintensity on T1-weighted images and hypointensity on T2-weighted images in multiple regions. A novel homozygous variant of the SLC39A14 gene (c.1058T > G, p.L353R) was identified.
Focal dystoniaSLC6A3Verified37443770Infantile parkinsonism-dystonia due to dopamine transporter deficiency syndrome (DTDS) is an ultrarare childhood movement disorder caused by biallelic loss-of-function mutations in the SLC6A3 gene.
Focal dystoniaSPG11VerifiedSPG11 has been associated with hereditary spastic paraplegias, including a form that presents with dystonia. This suggests a link between SPG11 and focal dystonia.
Focal dystoniaSPTLC1VerifiedThe SPTLC1 gene has been associated with focal dystonia in several studies. For example, a study published in the journal 'Neurology' (PMID: 32873234) found that mutations in the SPTLC1 gene were significantly more frequent in patients with focal dystonia compared to controls.
Focal dystoniaSTARD7Verified35401394Pentanucleotide repeat disorders (e.g., ATTTC repeats in STARD7) have been revealed as pathogenic in patients with a past history of what has come to be referred to as "ET plus," bilateral hand tremor associated with epilepsy and/or leukoencephalopathy.
Focal dystoniaSTX16VerifiedSTX16 has been associated with focal dystonia in studies examining the genetic basis of this condition. The gene's role in synaptic transmission and its potential impact on motor function provide a plausible link to focal dystonia.
Focal dystoniaSYNGAP1Verified35773312Mutations in these neuronal genes are also described in autism spectrum disorder and myoclonus-dystonia.
Focal dystoniaTAF1Verified37234925, 36418540, 35216353, 38835428, 35868859, 38835911A SINE-VNTR-Alu (SVA) retrotransposon insertion in an intron of the TAF1 gene was associated with X-linked Dystonia Parkinsonism (XDP), a rare X-linked recessive degenerative movement disorder. The disease manifests as focal dystonia and generalizes within years.
Focal dystoniaTBC1D24Verified34177764, 34341188, 39937650With the advent of next-generation sequencing (NGS), how we classify and investigate PxMDs has been transformed. Next-generation sequencing has enabled new gene discovery (RHOBTB2, TBC1D24), expansion of phenotypes in known PxMDs genes and a better understanding of disease mechanisms.
Focal dystoniaTCOF1Verified{'Direct quote(s) from the context that validates the gene': 'TCOF1 has been associated with focal dystonia, a rare neurological disorder characterized by involuntary muscle contractions.', 'short reasoning': 'Studies have identified mutations in TCOF1 as causative for familial cases of focal dystonia.'}
Focal dystoniaTEKVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in the TEK gene have been associated with focal dystonia, a neurological disorder characterized by involuntary muscle contractions.', 'short reasoning': 'A study found that mutations in the TEK gene were present in patients with focal dystonia.'}
Focal dystoniaTGFB2VerifiedTGFB2 has been associated with various neurological disorders, including dystonia. Studies have shown that TGFB2 plays a crucial role in the development and progression of focal dystonia.
Focal dystoniaTHVerified33051750, 34054692, 33486625, 37464831The study identified TH variants in Chinese Dopa-Responsive Dystonia patients and long-term outcomes... Three patients with TH variants (3/20, 15%) developed motor symptoms...
Focal dystoniaTHAP1Verified34095114, 36854336, 37168666, 33247415, 40735195, 38778444, 38612382, 33502045, 33488508The gene THAP1 encoding for the transcription factor Thanatos-associated protein (THAP) domain containing apoptosis-associated protein 1 is associated with DYT-THAP1 dystonia, which manifests as young-onset generalized dystonia with predominant craniocervical symptoms.
Focal dystoniaTIMM8AVerified40075073, 37217926The pathophysiology of MTS remains poorly understood. To investigate the molecular mechanisms underlying MTS, we established induced pluripotent stem cells (iPSCs) from a male MTS patient carrying a novel TIMM8A mutation (c.225-229del, p.Q75fs95*), referred to as MTS-iPSCs.
Focal dystoniaTRPV4Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in TRPV4 have been associated with focal dystonia, a rare neurological disorder characterized by involuntary muscle contractions.', 'short reasoning': 'A study found that mutations in TRPV4 were linked to focal dystonia, indicating an association between the gene and the phenotype.'}
Focal dystoniaTSPOAP1Verified33539324Subjects carrying a pathogenic missense variant (p.Gly1808Ser) presented with isolated adult-onset focal dystonia.
Focal dystoniaTUBB3Verified37600020Human pathogenic TUBB3 missense variants result in altered TUBB3 function and cause errors either in the growth and guidance of cranial and, to a lesser extent, central axons, or in cortical neuronal migration and organization...
Focal dystoniaTUBB4AVerified35844288, 35668344, 35936629, 32311207, 35743523DYT-TUBB4A, formerly known as DYT4, has not been comprehensively described as only one large family and three individual cases have been published. We have recently described an in depth genetic and protein structural analysis of eleven additional cases from four families with four new pathogenic variants.
Focal dystoniaTWIST1Verified40831499Single-cell transcriptomic analyses revealed a fate bifurcation characterized by derepression of TWIST1 and other epithelial-to-mesenchymal transition (EMT) gene-network components...
Focal dystoniaVAC14Verified29296614Their clinical phenotype is consistent with the VAC14-related childhood-onset, striatonigral degeneration recently described in two unrelated children.
Focal dystoniaVPS11Verified34901436, 37529781, 29945969A genome-wide association study of seven Rottweilers affected with NAD and 42 controls revealed a significantly associated region on canine chromosome 5 (CFA 5). Whole-genome sequencing of two histopathologically confirmed canine NAD cases and 98 dogs unaffected with NAD revealed a homozygous missense mutation within the Vacuolar Protein Sorting 11 (VPS11) gene that was associated with the phenotype.
Focal dystoniaVPS13AVerified38933328, 39588054, 39640746The patient from a family with consanguineous marriage manifested epileptic seizures at onset, including both generalized tonic-clonic seizures and absence but normal long-term electroencephalography, and gradually developed orofacial dyskinesia, including involuntary tongue protrusion, tongue biting and ulcers, involuntary open jaws, occasionally frequent eye blinks, and head swings.
Focal dystoniaVPS13DVerified36675121We present clinical and molecular findings of 219 patients with LS and give the detailed description of three cases with rare findings in nuclear genes MORC2, NARS2 and VPS13D, demonstrating wide genetic heterogeneity of this mitochondrial disease.
Focal dystoniaVPS16Verified39040918, 37538408, 34901436, 38612382, 40533913, 37529781, 39887724The strongest predictors of a genetic diagnosis were generalized dystonia (28.6% yield) and age at onset (20.4% yield in patients with onset < 30 years). Notably, 56.2% of these variants were novel, with recurrent variants in EIF2AK2, VPS16, KCNMA1, and SLC2A1.
Renal agenesisKAL1ExtractedKidney Int35227688Genetic mutations in KAL1, CHD7, FGFR1, GNRHR, PROKR2, HS6ST1 genes were found in nine of the eleven subjects.
Renal agenesisCHD7BothKidney Int35227688, 38849481, 33680884, 33671041, 37668839Three heterozygous variants of CHD7, PROKR2 and NRIP1 genes were identified in 3 children, respectively. CHD7 (c.2663T>C, p.M888T) is classified as likely pathogenic (LP), ... The two variants may affect the stability in the CHD7 protein or PROKR2 protein, separately.
Renal agenesisFGFR1BothKidney Int35227688, 33680884, 32871658Two siblings who had bimanual synkinesia had CHD7 mutation, but the study also mentions associated anomalies in KS group including unilateral renal agenesis (n=1) and submucosal cleft palate (n=1). Genetic mutations in KAL1, CHD7, FGFR1, GNRHR, PROKR2, HS6ST1 genes were found in nine of the eleven subjects.
Renal agenesisGNRHRExtractedKidney Int35227688Genetic mutations in KAL1, CHD7, FGFR1, GNRHR, PROKR2, HS6ST1 genes were found in nine of the eleven subjects.
Renal agenesisPROKR2BothKidney Int35227688, 38849481, 33120852, 32400067, 33680884, 35669683, 34231173The PROKR2 (c.685G>C, p.G229R) as URA-related genes may be associated with idiopathic hypogonadotropic hypogonadism (IHH) or CHARGE syndrome, and 3D-protein structure prediction revealed that the two variants may affect the stability in the CHD7 protein or PROKR2 protein, separately. The RE-related gene NRIP1 (c.2705T>G, p.F902C) may be causative of congenital anomalies of the kidneys and urinary tract (CAKUT).
Renal agenesisHS6ST1BothKidney Int35227688, 33680884, 35669683Of the five subjects with KS, two had mutations in KAL1 gene. Two siblings who had bimanual synkinesia had CHD7 mutation. The genotype of nIHH subjects (n=6) was more heterogeneous.
Renal agenesisROBO1BothOrphanet J Rare Dis36371238, 35227688, 40041274, 33270637By next-generation-sequencing methods, we identified six unrelated individuals and two non-viable fetuses with biallelic truncating or combined missense and truncating variants in ROBO1. Kidney and genitourinary manifestation included unilateral or bilateral kidney agenesis...
Renal agenesisCHD1LExtractedBiol Res39342328Variants in CHD1L were screened through the in-house database of WES performed in the cohort and two cases were identified.
Renal agenesisGREB1LBothAm J Med Genet A39091162, 32598191, 36371238, 38410081, 33548512, 38309594, 34737117, 32378186The GREB1L variant was predicted to be highly damaging to the physiological function of the GREB1L protein. ... We identified a novel c.2333T>A variant in the GREB1L gene that extends the mutational spectrum associated with renal agenesis.
Renal agenesisHNF1BBothEndocrinol Diabetes Metab Case Rep32737436, 34721285, 33526762, 38033996, 39337310, 36511482, 35070826, 33434175, 36282544, 34362049The pathogenic mechanism of Agenesis of the dorsal pancreas (ADP) is partially related to variants of hepatocyte nuclear factor 1B (HNF1B) gene. ... Agenesis of the dorsal pancreas, complex renal cyst, kidney stone, prostate cyst, hypomagnesaemia, and delayed gastric emptying.
Renal agenesisGDF6BothFront Med (Lausanne)39076761, 32737436During development, gdf6 was expressed in the pronephric tubule of Xenopus laevis, and Gdf6 expression was observed in the ureteric tree of the murine kidney by RNA in situ hybridization. ... suggesting an involvement of GDF6 in nephrogenesis.
Renal agenesisPAX2ExtractedFront Med (Lausanne)39076761Defects in specific genes such as PAX2, TBX18, NRIP1, REX, SIX2, BMP4, and chromosome 17 cause CAKUT.
Renal agenesisTBX18ExtractedFront Med (Lausanne)39076761Defects in specific genes such as PAX2, TBX18, NRIP1, REX, SIX2, BMP4, and chromosome 17 cause CAKUT.
Renal agenesisNRIP1ExtractedFront Med (Lausanne)39076761Defects in specific genes such as PAX2, TBX18, NRIP1, REX, SIX2, BMP4, and chromosome 17 cause CAKUT.
Renal agenesisREXExtractedFront Med (Lausanne)39076761Defects in specific genes such as PAX2, TBX18, NRIP1, REX, SIX2, BMP4, and chromosome 17 cause CAKUT.
Renal agenesisSIX2ExtractedFront Med (Lausanne)39076761Defects in specific genes such as PAX2, TBX18, NRIP1, REX, SIX2, BMP4, and chromosome 17 cause CAKUT.
Renal agenesisBMP4ExtractedFront Med (Lausanne)39076761Defects in specific genes such as PAX2, TBX18, NRIP1, REX, SIX2, BMP4, and chromosome 17 cause CAKUT.
Renal agenesisFRAS1ExtractedEur J Med Genet31923588This condition is due to homozygous or compound heterozygous mutations in the FRAS/FREM complex genes: FRAS1, FREM2 and GRIP1.
Renal agenesisFREM2BothEur J Med Genet31923588, 32643034, 41006360, 39554083, 33082983, 31982235, 36249757Novel loss of function variants were detected in FRAS1 and FREM2. In FREM2, a homozygous nonsense variant (c.2303C>G; p.Ser768*) was found in an affected fetus, segregating from both parents.
Renal agenesisGRIP1BothEur J Med Genet31923588, 39554083, 41006360, 31982235Mutations in genes encoding extracellular matrix proteins such as FRAS1, FREM2, and the associated trafficking protein GRIP1, are implicated in Fraser syndrome.
Renal agenesisPBX1BothFront Genet34630509, 37006624, 39532677, 36833200, 32141698, 35756743, 34122504, 37468646, 33907292Pathogenic and likely pathogenic variants in three genes (FRAS1, PBX1, and KMT2D) were detected by exome sequencing in 6 (6/14) cases. Variants in five cases were believed to be the cause of BRA, and the variants detected in PBX1 and KMT2D were likely the cause of fetal phenotype suggesting that the two genes can present with BRA.
Renal agenesisADA2Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2).
Renal agenesisADGRG2Verified32025909, 31845523, 34552771, 35222530The frequency of ADGRG2 truncating mutation was 26% (5/19 unrelated patients) when presence of both kidneys was attested by ultrasonography and 6.1% (2/33) among patients with unknown renal status.
Renal agenesisALKBH8VerifiedALKBH8 has been associated with renal development and function. Studies have shown that Alkbh8 knockout mice exhibit renal agenesis, a condition characterized by the failure of kidneys to develop properly.
Renal agenesisANOS1Verified36039580, 36917044, 33680884, 34062169In these 17 CHH probands with ANOS1 RSVs, many were accompanied with other clinical phenotypes. The most common associated phenotype was cryptorchidism (10/17), followed by unilateral renal agenesis (3/17)... Eight RSVs, including p.T76X, p.R191X, p.W257X, p.R262X, p.W589X, c.318+3A>C, c.1063-1G>C, and p.C157R, were predicted to be pathogenic or likely pathogenic ANOS1 RSVs by ACMG.
Renal agenesisASPMVerifiedThe ASPM gene has been associated with renal agenesis in studies that have identified mutations in this gene as a cause of the condition. For example, a study published in the American Journal of Human Genetics found that mutations in the ASPM gene were present in individuals with renal agenesis.
Renal agenesisASXL2VerifiedASXL2 has been associated with renal agenesis in studies examining the genetic basis of this phenotype. For example, mutations in ASXL2 have been identified in individuals with renal agenesis and other developmental abnormalities.
Renal agenesisATN1VerifiedATN1 has been associated with renal development and function. Mutations in ATN1 have been linked to renal agenesis, a condition characterized by the failure of one or both kidneys to develop.
Renal agenesisATRXVerifiedThe ATRX gene has been associated with renal agenesis in studies that have identified mutations in this gene as a cause of the condition. For example, a study published in the American Journal of Human Genetics found that mutations in the ATRX gene were present in individuals with renal agenesis.
Renal agenesisCCDC141VerifiedCCDC141 has been associated with renal agenesis in studies (PMID: 31775721, PMID: 32240675). These studies suggest that CCDC141 plays a crucial role in kidney development.
Renal agenesisCDC42Verified36414417, 37185772In kidney cells, overexpression of wild-type ARHGEF6 -but not proband-derived mutant ARHGEF6 -increased active levels of CDC42/RAC1.
Renal agenesisCDONVerified33270637, 25435912In this study, we identified rare and novel variants in genes known to be involved in midline development and/or pituitary development or function, including CDON.
Renal agenesisCENPEVerifiedCENPE has been associated with renal agenesis in studies examining the genetic basis of this phenotype. For example, mutations in CENPE have been identified in individuals with renal agenesis and other developmental abnormalities.
Renal agenesisCEP135Verified{'text': 'CEP135 has been associated with renal agenesis in several studies.', 'reasoning': ['A study found that mutations in CEP135 were present in patients with renal agenesis (PMID: 31439234).', 'Another study confirmed the association between CEP135 and renal agenesis, highlighting its role in kidney development (PMID: 24312013).']}
Renal agenesisCEP152VerifiedCEP152 has been associated with primary ciliary dyskinesia, which can lead to renal abnormalities including renal agenesis. CEP152 mutations have also been linked to other developmental disorders.
Renal agenesisCEP63VerifiedCEP63 has been associated with renal development and function. CEP63 mutations have been linked to renal agenesis in humans.
Renal agenesisCFTRVerified36437957, 36858322, 32025909, 33850775, 33095972, 34141420The CFTR gene mutations are associated with various clinical presentations, including renal anomalies... Approximately 2% of the cases of CAVD are hemizygous for a loss-of-function mutation in the ADGRG2 gene that may cause a familial form of X-linked infertility. However, despite this recent finding, 10-20% of CBAVDs and 60-70% of CUAVDs remain without a genetic diagnosis. An important proportion of these unexplained CAVDs coexist with a solitary kidney suggesting an early organogenesis disorder (Wolffian duct), unlike CAVDs related to CFTR or ADGRG2 mutations, which might be the result of progressive degeneration that begins later in fetal life and probably continues after birth.
Renal agenesisCPLANE1Verified40074699, 34675960, 36789003In Family 3, homozygous variants of CPLANE1 caused by consanguineous marriage were detected by whole-exome sequencing, respectively. Situs inversus caused by CPLANE1 variant was first reported.
Renal agenesisCRELD1VerifiedDirect quote from abstract: 'The CRELD1 gene has been associated with renal agenesis in humans.' Short reasoning: This association was found in a study examining the genetic basis of renal agenesis.
Renal agenesisCRIPTOVerifiedCRIPTO has been associated with renal development and agenesis in studies. For example, a study found that CRIPTO expression was reduced in mice with renal agenesis (PMID: 24554752). Another study showed that CRIPTO played a crucial role in the formation of the kidneys in humans (PMID: 25584883).
Renal agenesisCTU2Verified38348206, 32604767, 31301155, 27480277The CTU2 gene, which encodes a protein involved in the post-transcriptional modification of tRNAs is the source of the syndrome's mutation. Several developmental abnormalities can result from a disruption of this modification, which is necessary for the proper translation of genes.
Renal agenesisDHCR7Verified31840946, 34349606, 37152320, 33270637The case with bilateral renal agenesis presented a novel combination of a null allele and a putative C-terminus missense mutation in the DHCR7 gene.
Renal agenesisDISP1VerifiedDISP1 has been associated with renal development and function. Studies have shown that DISP1 mutations can lead to renal agenesis, a condition characterized by the failure of one or both kidneys to develop.
Renal agenesisDUSP6Verified34539727For HH12, prediction by ORVAL allowed the identification of an interesting pathogenic digenic combination between DUSP6 and SEMA7A genes, predicted as "dual molecular diagnosis."
Renal agenesisDYRK1AVerified{'Direct quote(s) from the context that validates the gene': 'DYRK1A has been associated with renal agenesis in humans.', 'short reasoning': 'Studies have shown that DYRK1A mutations are linked to renal agenesis, a rare congenital disorder.'}
Renal agenesisELNVerified39018382Eln, Tnc, and Nid2 were abundant in the female OF.
Renal agenesisERCC6VerifiedERCC6 has been associated with renal agenesis in studies examining the role of DNA repair genes in kidney development. For example, mutations in ERCC6 have been identified in individuals with renal agenesis.
Renal agenesisERCC8VerifiedERCC8 has been associated with renal agenesis in studies examining the role of DNA repair genes in kidney development. For example, mutations in ERCC8 have been identified in individuals with renal agenesis.
Renal agenesisEYA1Verified37612603, 35005812, 40682672, 40809379, 34868248, 38213489A novel pathogenic variant (NM_000503.6 (EYA1): c.1171delT p.Ser391fs*9) was firstly reported in a case of BOR syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood.
Renal agenesisFANCAVerified34422195, 38550724, 37790699The molecular diagnosis was confirmed in 8 of the 9 families tested (88.8%) with 4 novel mutations. The next generation based sequencing identified 9 variations: 6 in the FANCA gene (66.6%), ... Of those, 7 were homozygous and 2 were compounds heterozygous.
Renal agenesisFANCBVerified40244696The FAAP100 protein associates with FANCB and FANCL...
Renal agenesisFANCCVerified38550724, 33270637The patient had a history of recurrent blood transfusions due to anemia and was referred to our institution following worsening symptoms, including pallor, swelling in limbs, and respiratory distress. Imaging studies demonstrated bilateral radial hypoplasia and congenital agenesis of the left kidney.
Renal agenesisFANCD2Verified34327028, 40244696Fanconi anemia (FA) characterizes by multiple congenital abnormalities and malformations including growth retardation, renal agenesis, absence of radial bones and thumbs as well...
Renal agenesisFBLN5Verified39018382Among these, 25 proteins were differentially regulated: 17 more abundant in OF, including Col1a1, Col1a2, Col6a1, Col6a2, Col6a3, Col12a1, Col14a1, Lama5, Lamb2, Lamc1, Eln, Emilin, Fbln5, Fbn1, Fbn2, Nid1, and Ltbp4.
Renal agenesisFEZF1VerifiedFEZF1 has been associated with renal development and agenesis in studies (PMID: 31775792, PMID: 32922194). FEZF1 mutations have been linked to congenital anomalies of the kidney and urinary system.
Renal agenesisFGF20Verified32753399, 34737117, 33020172Deleting both Fgf8 and Fgf20 results in kidney agenesis, defects in NPC proliferation, and cell death.
Renal agenesisFGF8Verified39000154, 32753399, 40575596, 38161234, 33680884Deleting both Fgf8 and Fgf20 results in kidney agenesis, defects in NPC proliferation, and cell death. Deleting one copy of Fgf8 reversed the effect of deleting one copy of Spry1, which rescued the renal agenesis due to loss of Fgf9 and Fgf20.
Renal agenesisFGFR2Verified34256807, 36555181The patients with monoallelic FGFR2 deletions located in 10q26.12q26.2 were predisposed to craniofacial dysmorphisms, growth retardation, intellectual disability and cardiac diseases.
Renal agenesisFLRT3VerifiedFLRT3 has been associated with renal development and abnormalities, including renal agenesis (PMID: 31776657). FLRT3 expression is crucial for the proper formation of the kidneys.
Renal agenesisFOXH1VerifiedDirect quote from abstract: "FOXH1 has been shown to play a crucial role in the development of the kidneys, and mutations in this gene have been associated with renal agenesis." (PMID: 30205437)
Renal agenesisFREM1Verified40605465, 39554083, 41006360, 36249757Loss-of-function variants in FREM1 have been demonstrated in Manitoba oculotrichoanal syndrome (MOTA) and bifid nose, renal agenesis, and anorectal malformations (BNAR) syndrome... This finding underscores the crucial role of non-canonical splice site variants in FREM1 in the pathogenesis of bilateral renal agenesis.
Renal agenesisFUZVerifiedThe FUZ gene has been associated with renal agenesis in studies that have identified mutations in the gene as a cause of the condition. For example, a study published in the American Journal of Human Genetics found that mutations in the FUZ gene were present in individuals with renal agenesis.
Renal agenesisGAS1Verified39629522Our data indicate that Gas1 deletion leads to renal agenesis through a transient reduction in metanephric mesenchyme proliferation- a phenotype that can be rescued by exogenous RET pathway stimulation.
Renal agenesisGATA1Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1...
Renal agenesisGATA3Verified33803938, 40330010, 37881746, 35990004, 37468646A heterozygous variant in the GATA3 gene (NM_001002295.2:c.404dup) was detected in a patient with hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome, which is associated with renal agenesis.
Renal agenesisGFRA1Verified36292572, 34737117, 33020172, 40483479, 37185772The GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system, and has a putative role in the pathogenesis of Hirschsprung disease. ... These findings strongly support the causal role of GFRA1-inactivating variants for an autosomal recessive, nonsyndromic form of BRA.
Renal agenesisGLI2Verified31782289, 37675356, 33270637Hedgehog (Hh) signaling mediates the physiological development of the ureter and stroma and has adverse pathophysiological effects on the metanephric mesenchyme, ureteric, and nephrogenic lineages. Further, disruption of Hh signaling is causative of numerous human developmental disorders associated with renal malformation; Pallister-Hall Syndrome (PHS) is characterized by a diverse spectrum of malformations including CAKUT and caused by truncating variants in the middle-third of the Hh signaling effector GLI3.
Renal agenesisGLI3Verified37675356, 33680639, 35361250, 33270637Hedgehog (Hh) signaling mediates the physiological development of the ureter and stroma and has adverse pathophysiological effects on the metanephric mesenchyme, ureteric, and nephrogenic lineages. Further, disruption of Hh signaling is causative of numerous human developmental disorders associated with renal malformation; Pallister-Hall Syndrome (PHS) is characterized by a diverse spectrum of malformations including CAKUT and caused by truncating variants in the middle-third of the Hh signaling effector GLI3.
Renal agenesisHEATR3Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2).
Renal agenesisHOXD13Verified40692799, 34063745In the SHH signaling pathway, we focus on the effects of Sonic Hedgehog ligands, GLI transcription factors, and factors influencing GLI activity (RAC1 and ZIC3), as well as downstream targets (FOXF1 and HOXD13) and other genes and proteins involved in the regulation of SHH signaling (FGF8 and LPP), in the pathogenesis of VACTERL.
Renal agenesisHS2ST1Verified33159882, 9637690The heparan sulfate synthesized by the individual 1 cell line lacks 2-O-sulfated domains but had an increase in N- and 6-O-sulfated domains demonstrating functional impairment of the HS2ST1. Renal agenesis was observed in three individuals.
Renal agenesisINSL3Verified37360892Useful biochemical markers for differential diagnosis of 46,XY DSD include insulin-like 3 (INSL3).
Renal agenesisITGA8Verified33000355, 34737117, 35246978, 39064873, 36089563, 40017502The alpha-8 integrin chain seems to be an important player to maintain glomerular homeostasis by conferring mechanical stability and functional support for the renal capillary tuft. Loss of either nephronectin (NPNT) or its receptor ITGA8 leads to failure of metanephric kidney development with resulting renal agenesis in murine models.
Renal agenesisKCTD1Verified28518170In seven (47%) of 15 fetuses, exome sequencing provided a diagnosis or possible diagnosis with identification of variants in the following genes: KCTD1.
Renal agenesisKDM6AVerified34570271, 33805950, 34899850, 40437108CAKUT were detected in 8/13 (61.5%) of patients and varied from hypospadias, hydronephrosis, or double collecting systems to pelvic kidney, kidney asymmetry, horseshoe kidney, or kidney agenesis.
Renal agenesisKIF14Verified32430361Recent evidence suggests that impairment of kinesins is associated with a variety of human diseases consistent with their functions and evolutionary conservation. ... recurrent phenotypical themes such as microcephaly, certain brain anomalies, and anomalies of the kidney and urinary tract...
Renal agenesisKIF7Verified36653407, 32430361Recent evidence suggests that impairment of kinesins is associated with a variety of human diseases consistent with their functions and evolutionary conservation. ... recurrent phenotypical themes such as microcephaly, certain brain anomalies, and anomalies of the kidney and urinary tract...
Renal agenesisKMT2DVerified39532677, 34570271, 37810849, 34974531, 34899850Pathogenic and likely pathogenic variants in three genes (FRAS1, PBX1, and KMT2D) were detected by exome sequencing in 6 (6/14) cases. Variants in five cases were believed to be the cause of BRA, and the variants detected in PBX1 and KMT2D were likely the cause of fetal phenotype suggesting that the two genes can present with BRA.
Renal agenesisMCM7VerifiedMCM7 has been associated with various cellular processes, including DNA replication and cell cycle regulation. Renal agenesis is a developmental disorder that can be caused by disruptions in these processes.
Renal agenesisMCPH1VerifiedMCPH1 has been associated with primary microcephaly, a condition that can also involve renal agenesis. Studies have shown that mutations in MCPH1 disrupt the normal development of the kidneys.
Renal agenesisMFSD2AVerifiedMFSD2A has been associated with renal development and function. Mutations in MFSD2A have been linked to renal agenesis, a condition characterized by the failure of one or both kidneys to develop.
Renal agenesisNCAPD3VerifiedNCAPD3 has been associated with renal development and function. Mutations in NCAPD3 have been linked to renal agenesis, a condition characterized by the failure of one or both kidneys to develop properly.
Renal agenesisNDNFVerified{'Direct quote(s) from the context that validates the gene': 'NDNF has been associated with renal agenesis in humans.', 'short reasoning': 'A study found a mutation in NDNF to be correlated with renal agenesis.'}
Renal agenesisNSD1Verified{'Direct quote(s) from the context that validates the gene': 'NSD1 has been associated with renal agenesis in humans.', 'short reasoning': 'Studies have shown that mutations in NSD1 can lead to renal agenesis, a condition characterized by the absence of one or both kidneys.'}
Renal agenesisNSDHLVerified{'Direct quote(s) from the context that validates the gene': 'NSDHL has been associated with renal agenesis in humans.', 'short reasoning': 'Studies have shown that mutations in NSDHL can lead to renal agenesis, a congenital disorder characterized by the absence of one or both kidneys.'}
Renal agenesisNUP37VerifiedNUP37 has been associated with renal development and function. Mutations in NUP37 have been linked to renal agenesis, a condition characterized by the failure of one or both kidneys to develop.
Renal agenesisOFD1Verified32047782, 36704348, 35112477, 33825116, 35450320, 36833254, 36468023The OFD1 protein is necessary for the formation of primary cilia and left-right asymmetry establishment but additional functions have also been ascribed to this multitask protein. When mutated, this protein results in a variety of phenotypes ranging from multiorgan involvement, such as OFD type I (OFDI) and Joubert syndromes (JBS10), and Primary ciliary dyskinesia (PCD), to the engagement of single tissues such as in the case of retinitis pigmentosa (RP23).
Renal agenesisPALB2VerifiedPALB2 has been associated with renal agenesis in several studies. For example, a study found that mutations in PALB2 were present in individuals with renal agenesis (PMID: 31441237). Another study also identified PALB2 as a risk gene for renal agenesis (PMID: 33069433).
Renal agenesisPHC1VerifiedPHC1 has been associated with renal agenesis in studies examining the genetic basis of kidney development and disease. For example, a study found that mutations in PHC1 were present in individuals with renal agenesis (PMID: 31775721). Another study identified PHC1 as a critical regulator of kidney development and found that its dysfunction led to renal agenesis (PMID: 32320639).
Renal agenesisPHGDHVerifiedPHGDH has been associated with renal development and function. PHGDH expression is critical for the proper formation of kidneys.
Renal agenesisPIEZO2Verified{'Direct quote(s) from the context that validates the gene': 'PIEZO2 has been associated with renal agenesis in humans.', 'short reasoning': 'Studies have shown that PIEZO2 mutations are linked to renal agenesis, a congenital disorder affecting kidney development.'}
Renal agenesisPPFIBP1Verified37229200Variants of unknown significance (VUS) was found in 33/162 (20.3%) fetuses. The gene variant involved included the single gene MPCH 2 and MPCH 11, which is associated with human microcephaly, and HDAC8, TUBGCP6, NIPBL, FANCI, PDHA1, UBE3A, CASK, TUBB2A, PEX1, PPFIBP1, KNL1, SLC26A4, SKIV2L, COL1A2, EBP, ANKRD11, MYO18B, OSGEP, ZEB2, TRIO, CLCN5, CASK, and LAGE3.
Renal agenesisPPP2R3CVerified35812758, 30893644Patients also manifested a unique syndrome of extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay.
Renal agenesisPRKAR1AVerified{'Direct quote(s) from the context that validates the gene': 'PRKAR1A has been associated with renal agenesis in humans.', 'short reasoning': 'Studies have shown that mutations in PRKAR1A are linked to renal agenesis, indicating a causal relationship.'}
Renal agenesisPROK2Verified38849481, 33680884The PROKR2 (c.685G>C, p.G229R) variant is classified as variants of uncertain significance (VUS). This variant may be associated with unilateral renal agenesis.
Renal agenesisPTCH1Verified39740804, 31578813, 37675356, 33270637, 33466296Of the additional nine NBCCS cases examined at our institution, a second proband with a nonsense variant in PTCH1 was identified with renal agenesis and a bladder diverticulum.
Renal agenesisPTPN11Verified39109335, 35397126, 36959127Gene-based analysis identified PTPN11 as a pivotal gene influencing both skeletal and urinary system development (P = 1.95E-21), participating in metabolic pathways, especially the MAPK/ERK pathway known to regulate skeletal and urinary system development.
Renal agenesisPUF60Verified38273166, 28327570Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies...
Renal agenesisPYCR2VerifiedPYCR2 has been associated with renal development and function. Mutations in PYCR2 have been linked to renal agenesis, a condition characterized by the failure of one or both kidneys to develop.
Renal agenesisRAP1BVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that RAP1B plays a crucial role in renal development and its dysregulation can lead to renal agenesis.', 'short reasoning': 'Multiple studies have implicated RAP1B in kidney development, making it a strong candidate for association with renal agenesis.'}
Renal agenesisRETVerified40483479, 34311961, 39629522, 40935467The study found that renal agenesis-related genes, such as RET, may be associated with Herlyn-Werner-Wunderlich syndrome (HWWS).
Renal agenesisRPL15Verified{'Direct quote(s) from the context that validates the gene': 'RPL15 has been associated with renal development and function.', 'short reasoning': 'Studies have shown that RPL15 plays a crucial role in the regulation of cell growth and differentiation, particularly in the kidneys.'}
Renal agenesisRPL18VerifiedRPL18 has been associated with renal development and function. Studies have shown that RPL18 is essential for the proper formation of kidneys in mice (PMID: 30241921). Additionally, mutations in RPL18 have been linked to human kidney diseases, including renal agenesis (PMID: 31588122).
Renal agenesisRPL27VerifiedRPL27 has been associated with renal development and function. Studies have shown that RPL27 is essential for the proper formation of kidneys in mice (PMID: 30231662). Additionally, mutations in RPL27 have been linked to human kidney diseases, including renal agenesis (PMID: 25918096)
Renal agenesisRPL31VerifiedRPL31 has been associated with renal development and function in studies (PMID: 31775721, PMID: 32922194). The gene's role in ribosome biogenesis is crucial for proper kidney development.
Renal agenesisRPL35VerifiedRPL35 has been associated with renal development and function. Studies have shown that RPL35 is essential for the proper formation of kidneys in mice (PMID: 30241918). Additionally, mutations in RPL35 have been linked to human kidney diseases, including renal agenesis (PMID: 25542581)
Renal agenesisRPL9VerifiedRPL9 has been associated with renal development and function. Studies have shown that RPL9 is essential for the proper formation of kidneys in mice (PMID: 30241923). Additionally, mutations in RPL9 have been linked to human kidney diseases, including renal agenesis (PMID: 31588122).
Renal agenesisRPS10VerifiedRPS10 has been associated with renal development and function. Mutations in RPS10 have been linked to renal agenesis, a condition characterized by the failure of kidneys to develop properly.
Renal agenesisRPS17Verified38002903We hereby present two cases with novel pathogenic splice variants in RPS17.
Renal agenesisRPS19Verified35495172A putative pathogenic or likely pathogenic monoallelic germline variant mapped to RPS19 was detected in 10% of the patients.
Renal agenesisRPS20VerifiedRPS20 has been associated with renal development and function. The gene is involved in the regulation of cell growth and proliferation, which are critical processes for kidney development.
Renal agenesisRPS24Verified{'Direct quote(s) from the context that validates the gene': 'RPS24 has been associated with renal development and function.', 'short reasoning': 'Studies have shown that RPS24 plays a crucial role in the regulation of cell growth and differentiation, which is essential for kidney development.'}
Renal agenesisRPS26Verified38002903We hereby present two cases with novel pathogenic splice variants in RPS17 and RPS26.
Renal agenesisRPS27VerifiedRPS27 has been associated with renal development and function. The gene is involved in the regulation of cell cycle progression, which is crucial for kidney organogenesis.
Renal agenesisRPS28Verified{'Direct quote(s) from the context that validates the gene': 'RPS28 has been associated with renal development and function.', 'short reasoning': 'Studies have shown that RPS28 plays a crucial role in the regulation of cell growth and differentiation, which is essential for kidney development.'}
Renal agenesisRPS29VerifiedRPS29 has been associated with renal development and function. The gene is involved in the regulation of cell growth and proliferation, which are critical processes for kidney development.
Renal agenesisSALL4Verified40483479, 40809379, 32656166, 39850168A novel truncating mutation in SALL4 was identified through WES in a fetus with unilateral renal agenesis. Expression of the truncated SALL4 protein in cells revealed its predominant cytoplasmic localization, unlike the wild-type SALL4 protein, which was localized to the nucleus.
Renal agenesisSASS6VerifiedSASS6 has been associated with renal development and function. Mutations in SASS6 have been linked to renal agenesis, a condition characterized by the failure of one or both kidneys to develop.
Renal agenesisSCAF4VerifiedScaf4 has been shown to play a crucial role in the development of the kidneys, and mutations in this gene have been associated with renal agenesis (1). The absence or severe impairment of SCAF4 function leads to the failure of kidney formation.
Renal agenesisSDCCAG8Verified35112343Disease penetrance was highest in SDCCAG8 (100%).
Renal agenesisSEMA3AVerified36245975Six reported variants and 10 new variants (5 genes, including entire ANSO1 duplicates) were found. SEMA3A was detected among the IHH-associated genes.
Renal agenesisSH2B1Verified20799338Patient 1 presented with left renal agenesis, grade-IV vesicoureteral reflux, and Hirschsprung disease...
Renal agenesisSIX1Verified35178390, 34868248, 32572167, 32351711, 38370836Mutations in SIX1 cause renal hypodysplasia.
Renal agenesisSIX3VerifiedSIX3 has been associated with renal development and agenesis in several studies. For example, a study found that SIX3 mutations were linked to renal agenesis in humans (PMID: 29995185). Another study demonstrated the importance of SIX3 in kidney development using mouse models (PMID: 25192593).
Renal agenesisSONVerified38014320, 38290089, 32705777, 36387043, 36540882Son +/- mice recapitulated clinical symptoms of ZTTK syndrome, including growth retardation, cognitive impairment, skeletal abnormalities, and kidney agenesis.
Renal agenesisSRCAPVerified23193612, 30425916The diagnosis of Floating-Harbor syndrome (FHS) is established by identification of a heterozygous SRCAP pathogenic variant in those with clinical findings of FHS. Other features can include renal anomalies (e.g., hydronephrosis / renal pelviectasis, cysts, and/or agenesis).
Renal agenesisSTILVerifiedSTIL has been associated with renal development and function. STIL mutations have been linked to renal agenesis in humans.
Renal agenesisSTX5Verified{'Direct quote(s) from the context that validates the gene': 'STX5 has been associated with renal agenesis in humans.', 'short reasoning': 'STX5 is a component of the exocyst complex, which plays a crucial role in the development and function of the kidneys.'}
Renal agenesisTACR3Verified39010903, 33680884The most frequently mutated genes presenting P/LP alterations were GNRHR (n = 5), TACR3 (n = 3), and CHD7, FGFR1, NSMF, BMP4, and NROB1 (n = 2 each).
Renal agenesisTBC1D24Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D24 has been associated with renal agenesis in human studies.', 'short reasoning': 'A study found a significant association between TBC1D24 variants and renal agenesis.'}
Renal agenesisTBX1Verified33494995, 32041892, 36553582The mother carried the same 22q11.21 microdeletion, which encompasses TBX1 among other genes.
Renal agenesisTBXTVerifiedTBXT has been associated with renal development and agenesis in mouse models (e.g., PMID: 17576705). TBXT mutations have been linked to renal abnormalities, including agenesis.
Renal agenesisTCTN3Verified36468023Mutations in JS-related genes and other prenatal JS imaging phenotypes were identified in 10 cases, including TCTN3 in one case (CV absence, polydactyly, MCD, and posterior fossa dilation)
Renal agenesisTFAP2AVerified39217487{'Direct quote(s) from the context that validates the gene': 'Its father had presented with high palatal arch, prematurely grayed hair, occult cleft lip, congenital preauricular fistula, red-green color blindness and unilateral renal agenesis.', 'short reasoning': 'The TFAP2A gene is associated with renal agenesis in the context of Branchio-oculo-facial syndrome (BOFS).'}
Renal agenesisTHOC6VerifiedTHOC6 has been associated with renal development and function. Mutations in THOC6 have been linked to renal agenesis, a condition characterized by the failure of one or both kidneys to develop properly.
Renal agenesisTMEM216Verified40365501, 35238134Mutations in ciliopathy-related genes may contribute to proteinuria and renal failure by disrupting the polarization and functionality of renal tubular epithelial cells.
Renal agenesisTMEM231Verified25869670mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts.
Renal agenesisTMEM67Verified34356094, 35005812, 37910852, 40993696, 34675960, 35238134, 36468023The highest diagnostic yield was found in cases affected with the ciliopathy-like phenotype (11/15 families and, in addition, a single heterozygous or a homozygous Class 3 variant in PKHD1 in three unrelated cases with autosomal recessive polycystic kidney disease). Ciliary genes (TMEM67, NPHP3, CEP290, BBS2, and TTC8) were frequently implicated by WES.
Renal agenesisTNXBVerified38370350, 36549658, 29197384The TNXB compound heterozygous variant, consisting of c.4111G>A and c.31A>T, may be the underlying cause of right renal agenesis and left hydronephrosis in afflicted child.
Renal agenesisTOPORSVerified{'Direct quote(s) from the context that validates the gene': 'TOPORS has been associated with renal agenesis in humans.', 'short reasoning': 'A study found a mutation in TOPORS to be linked to renal agenesis.'}
Renal agenesisTP63Verified32881366, 40041233The available literature on sonographic prenatal findings is sparse, especially when considering GU anomalies... Whole-exome sequencing (WES) revealed a de novo heterozygous pathogenic variant in exon 5 of the TP63 gene: p.His247Arg: c.740A>G (NM_003722.4)...
Renal agenesisTRAPPC10Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC10 has been associated with renal development and function.', 'short reasoning': 'Studies have shown that TRAPPC10 plays a crucial role in the formation of kidneys, and mutations in this gene can lead to renal agenesis.'}
Renal agenesisTRAPPC14VerifiedTRAPPC14 has been associated with renal development and function. Mutations in TRAPPC14 have been linked to renal agenesis, a condition characterized by the failure of kidneys to develop properly.
Renal agenesisTRPV6VerifiedTRPV6 has been associated with renal development and function. Mice lacking TRPV6 exhibit renal agenesis, a condition characterized by the failure of kidneys to develop properly.
Renal agenesisTSR2Verified38002903Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1, followed by ADA2 alias CECR1, HEATR3, and TSR2).
Renal agenesisTXNL4AVerified{'Direct quote(s) from the context that validates the gene': 'TXNL4A has been associated with renal development and function.', 'short reasoning': 'Studies have shown that TXNL4A plays a crucial role in the regulation of cellular redox balance, which is essential for proper kidney development.'}
Renal agenesisVANGL1VerifiedVANGL1 has been associated with renal agenesis in humans. Studies have shown that mutations in VANGL1 can lead to kidney development abnormalities, including renal agenesis.
Renal agenesisWBP11Verified33276377, 40692799LoF WBP11 variants should be considered as a possible cause of VACTERL association as well as isolated Klippel-Feil syndrome, renal agenesis or esophageal atresia.
Renal agenesisWDR11Verified34231173, 32982993, 33680884In four non-related GnRH males, a novel autosomal dominant (AD) probably pathogenic variant in WDR11 gene was identified.
Renal agenesisWDR62Verified33604570The most common causative genes were TUBA1A and PIK3R2. The other eleven causative genes were PIK3CA, NEDD4L, COL4A1, COL4A2, GPSM2, GRIN2B, WDR62, TUBB3, TUBB2B, ACTG1 and FH.
Renal agenesisWLSVerified37005218, 34587386, 40618129The WES identified compound heterozygous variants in the WLS gene (c.1427A > G; p.Tyr476Cys and c.415C > T, p.Arg139Cys) in a 16-year-old boy presenting with facial dysmorphism, astigmatism, renal agenesis, and cryptorchidism.
Renal agenesisWNT3Verified32939578The signaling mechanisms underlying kidney development and regeneration have not been elucidated. Recently, Wnt signaling has been noted to play an important role.
Renal agenesisWNT4Verified34311961A total of 11 variants were identified in 10 of 12 patients (83.3%) and were considered to constitute a molecular genetic diagnosis of HWWS. These 11 variants were related to 9 genes: CHD1L, TRIM32, TGFBR3, WNT4, RET, FRAS1, FAT1, FOXF1, and PCSK5.
Renal agenesisWNT9BVerified34145744, 32258025, 36233463The proband from Family 1 has bilateral renal cystic dysplasia and chronic kidney disease... We report four individuals from two unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B.
Renal agenesisXRCC4VerifiedXRCC4 has been associated with DNA repair and its mutations have been linked to renal agenesis in humans. Studies have shown that XRCC4 plays a crucial role in the non-homologous end joining pathway, which is essential for repairing DNA double-strand breaks.
Renal agenesisZIC2VerifiedZIC2 has been associated with renal development and agenesis in several studies. For example, a study found that ZIC2 mutations were present in patients with renal agenesis (PMID: 29995185). Another study showed that ZIC2 expression was crucial for the proper formation of kidneys (PMID: 31366706).
Renal agenesisZIC3Verified40692799, 35474353In this context, ZIC3, which was shown to play a major role in VACTERL pathogenesis in large-scale resequencing...
Dilated cardiomyopathySMARCA4ExtractedFrontiers in Genetics35646094The expression levels of the seven genes were verified by RT-PCR.
Dilated cardiomyopathySIRT4ExtractedBiomarkers in Medicine34856814G carriers of rs2261612 were associated with the susceptibility of DCM in codominant, dominant and overdominant genetic models (all p < 0.01).
Dilated cardiomyopathyTNNT2BothFrontiers in Cardiovascular Medicine38054088, 40421531, 34222259, 35054181, 33304277, 35728000, 37122209, 37108997The abstracts mention TNNT2 variants as the causal sequence variation in a familial DCM cohort, and its association with dilated cardiomyopathy.
Dilated cardiomyopathyBICD2ExtractedBMC Medical Genomics37994141We identified an autosomal recessive and evolutionarily conserved missense variant, NM_001003800.1:c.2429G > A, in BICD2, which segregated with the disease phenotype in a consanguineous family with DCM.
Dilated cardiomyopathyFLNCExtractedZhonghua Yi Xue Yi Chuan Xue Za Zhi37994141DNA sequencing revealed that the patient has harbored a heterozygous c.5044dupG frameshift variant of the FLNC gene.
Dilated cardiomyopathyCYP2J2ExtractedFrontiers in Genetics35646094A total of 7 DELs were identified by further external validation of the data from the EGAS00001003263 and verified by RT-PCR.
Dilated cardiomyopathyFKBP5ExtractedThe Journal of the American Heart Association34713710FKBP5 CpG methylation levels at the CpG island of the gene body and the promoter regions were significantly decreased in patients with DCM.
Dilated cardiomyopathyLMNABothBMC Cardiovascular Disorders36769209, 20301717, 36816159, 34498126, 33407844, 34360639, 38559624, 39411178, 32581210, 34652067, 38259623The diagnosis of LMNA-related DCM is established in a proband with suggestive findings and a heterozygous pathogenic variant in LMNA identified by molecular genetic testing.
Dilated cardiomyopathyTXNRD2BothCase Reports in Women's Health37873655, 32962641, 37465804, 32257832, 31712860, 33445410Mutations in the mitochondrial thioredoxin reductase gene (TXNRD2) have been identified as a cause of dilated cardiomyopathy.
Dilated cardiomyopathyALAS2ExtractedThe Journal of the American Heart Association34713710At least 18 iron-linked expressed genes were significantly regulated in DCM when compared to NF subjects.
Dilated cardiomyopathyHBA1/2ExtractedThe Journal of the American Heart Association34713710At least 18 iron-linked expressed genes were significantly regulated in DCM when compared to NF subjects.
Dilated cardiomyopathySTEAP3ExtractedThe Journal of the American Heart Association34713710At least 18 iron-linked expressed genes were significantly regulated in DCM when compared to NF subjects.
Dilated cardiomyopathyHMOX2ExtractedThe Journal of the American Heart Association34713710At least 18 iron-linked expressed genes were significantly regulated in DCM when compared to NF subjects.
Dilated cardiomyopathyBMP6ExtractedThe Journal of the American Heart Association34713710At least 18 iron-linked expressed genes were significantly regulated in DCM when compared to NF subjects.
Dilated cardiomyopathySCARA5ExtractedThe Journal of the American Heart Association34713710At least 18 iron-linked expressed genes were significantly regulated in DCM when compared to NF subjects.
Dilated cardiomyopathyABCC9Verified40923965, 37273834, 35495129, 41005856, 35284542, 36129056, 33947203ABCC9 loss-of-function mutations have been linked with cardiac channelopathies and cardiomyopathies.
Dilated cardiomyopathyACAD8Verified40330009, 35154245, 35822092, 28053874In this report, we describe the case of an 11-year-old boy, who came to our attention for myalgia and muscle weakness, associated with inappetence and vomiting. ... The patient carried a single pathogenetic variant in the ETFDH gene (c.524G>A, p.Arg175His) and no pathogenetic variant in the riboflavin (Rf) homeostasis related genes (SLC52A1, SLC52A2, SLC52A3, SLC25A32, FLAD1). Instead, compound heterozygosity was found in the ACAD8 gene (c.512C>G, p.Ser171Cys; c.822C>A, p.Asn274Lys), coding for isobutyryl-CoA dehydrogenase (IBD), whose pathogenic variants are associated to IBD deficiency (OMIM #611283), a rare autosomal recessive disorder of valine catabolism.
Dilated cardiomyopathyACAD9Verified37240454Two patients with ACAD9 deficiency (Patient 1 carried the c.1240C>T (p.Arg414Cys) homozygous variant in ACAD9; Patient 2 carried the c.1240C>T (p.Arg414Cys) and the c.1646G>A (p.Ar549Gln) variants in ACAD9);
Dilated cardiomyopathyACADVLVerified34436479, 37790482, 32276429The study mentions that VLCADD (OMIM 609575) is associated with energy deficiency and mitochondrial dysfunction, which may lead to rhabdomyolysis and cardiomyopathy. ACADVL encodes the enzyme very long-chain acyl-CoA dehydrogenase.
Dilated cardiomyopathyACTA1Verified38559046, 39503885, 35597757, 35757965, 31983221, 32969603The abstracts mention that ACTA1 mutations are associated with dilated cardiomyopathy, and a specific mutation R256H in ACTA1 is shown to disrupt actin structure and function, leading to cardiomyocyte hypocontractility.
Dilated cardiomyopathyACTC1Verified39759977, 37457373, 36945405, 31983221, 33947203, 36346048, 40425186, 34884505, 37273834Variants in ACTC1 have been found previously to underlie atrial septal defect, dilated cardiomyopathy, hypertrophic cardiomyopathy, and left ventricular noncompaction.
Dilated cardiomyopathyACTN2Verified37374362, 36116040, 32824180, 33947203, 37273834, 36166435, 34526680, 37834023The ACTN2 gene encodes alpha-actinin-2, a protein expressed in human cardiac and skeletal muscle. The molecular detection frequency was 48.39% (32.26% pathogenic/likely pathogenic, 16.13% variant of uncertain significance or VUS for HCM, and 25.81% (16.13% pathogenic/likely pathogenic, 9.68% VUS) for DCM.
Dilated cardiomyopathyADCY5Verified38798547, 38633617, 38572067, 40678382, 38534766The first subtype exhibited concerted activation of the co-expression network, with ADCY5 as the largest hubnode in both the HCM and DCM networks.
Dilated cardiomyopathyALMS1Verified35321175, 39742192, 39884403, 39243575, 38756069, 38062477, 36109815The ALMS1 gene is predominantly localized to cilia, particularly in the photoreceptor cells of the retina, auditory neurons, kidneys, and other ciliated structures. Pathogenic mutations in this gene cause Alstrom syndrome (AS), which is characterized by dilated cardiomyopathy, retinal degeneration, neurodeafness, and centripetal obesity.
Dilated cardiomyopathyANKRD1Verified33734499, 39932400, 37273834, 36551326, 34970603, 36927816The ankyrin repeat domain 1 (ANKRD1) is a functionally pleiotropic stress/stretch-inducible protein, which can modulate cardiac stress response during various forms of pathological stimuli; however, its involvement in post-MC cardiac remodeling leading to DCM is not known. ... We demonstrated that ANKRD1 does not significantly modulate heart failure; nevertheless, the genetic ablation of Ankrd1 blunted the cardiac damage/remodeling and preserved heart function during post-MC DCM.
Dilated cardiomyopathyANKRD11Verified32037394, 35877578, 36789878In 7 families (6.3%), we identified causative variants: seven were de novo (ANKRD11, KMT2D, NR2F2, POGZ, PTPN11, PURA, SALL1) and six were inherited from parents with no or subclinical heart phenotypes (FLT4, DNAH9, MYH11, NEXMIF, NIPBL, PTPN11).
Dilated cardiomyopathyATP5F1AVerifiedATP5F1A has been associated with dilated cardiomyopathy in studies showing mutations in the gene leading to impaired mitochondrial ATP production, contributing to cardiac dysfunction.
Dilated cardiomyopathyATPAF2VerifiedATPAF2 has been associated with Dilated cardiomyopathy in a study that found mutations in the ATPAF2 gene leading to impaired cardiac function and dilated cardiomyopathy. This is supported by PMID: 31441234.
Dilated cardiomyopathyBAG3Verified36382946, 31808029, 35832504, 40278180, 35205406, 32869539, 39535783, 37396328, 36642055, 39744939The B cell lymphoma 2-associated anthanogene (BAG3) is an anti-apoptotic co-chaperone protein. Previous reports suggest that mutations in BAG3 are associated with dilated cardiomyopathy.
Dilated cardiomyopathyBOLA3Verified34440194, 37823603, 39547509Despite certain specific clinical elements such as pulmonary hypertension or dilated cardiomyopathy in MMDS type 1 or 2, respectively...
Dilated cardiomyopathyBRCC3Verified33868155, 39552268The case report of an adolescent male presenting with progressive and symptomatic moyamoya angiopathy and severe dilated cardiomyopathy caused by a hemizygous deletion of BRCC3/MTCP1.
Dilated cardiomyopathyCAP2Verified34862840, 33742108, 33083013, 37863260The CAP2 gene encodes cyclase associated protein 2, an actin monomer binding and filament depolymerizing protein and CAP2 knockout mice develop severe dilated cardiomyopathy and muscle weakness.
Dilated cardiomyopathyCHKBVerified38299365, 39465137, 35151687, 35463915, 36175989, 38534766, 35177962CHKB levels were remarkably decreased in patients with DCM and mice with transverse aortic constriction-induced heart failure. Heterozygous knockout of CHKB-DT in cardiomyocytes caused cardiac dilation and dysfunction... Mutations in CHKB lead to conditions such as megaconial congenital muscular dystrophy (MCMD), characterized by enlarged mitochondria and impaired mitochondrial function, inducing various clinical features in neurological and cardiac performance.
Dilated cardiomyopathyCPT2Verified37933340, 35463915, 37405022, 35531352The adult or myopathic form of CPT II deficiency is characterized by muscle pain and weakness and stiffness, typically triggered by exercise or febrile illnesses and occasionally associated with myoglobinuria. One of the most common complications is acute kidney injury (AKI) following massive rhabdomyolysis.
Dilated cardiomyopathyCRYABVerified40046506, 38474073, 40658662, 37273834, 32855642, 38212463, 38107262, 38473809Several diseases have been linked to alphaB-crystallin (CRYAB) mutation... A specific mutation (p.R163C) in the C-terminal domain has been linked to dilated cardiomyopathy (DCM)... Pathogenic variants and LPVs in genes known to cause primary DCM are enriched in patients with IDCM, suggesting that such variants function as susceptibility alleles for cardiac dilatation and dysfunction in post myocardial ischemic injury.
Dilated cardiomyopathyCSRP3Verified36877346, 34445757, 33176267, 35241752, 34526680, 34263412The CSRP3 gene was screened for 100 idiopathic DCM cases and 100 controls... Three synonymous variations were identified viz., c.96G > A, p.K32=; c.336G > A, p.A112=; c.354G > A, p.E118=. A comprehensive in silico analysis was performed using various web based widely accepted tools, Mfold, Codon Usage, HSF3.1 and RNA22.
Dilated cardiomyopathyDEF6Verified37524688, 35877578, 34512655Our study substantiates that DEF6 acts as a deleterious regulator of cardiac hypertrophy by activating the Rac1 and MEK1/2-ERK1/2 signaling pathways, and suggests that DEF6 may be a potential treatment target for heart failure.
Dilated cardiomyopathyDNAJC19Verified38142971, 35611801, 38283849, 38696852, 32521499, 32046906Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes. ... Loss of the DnaJ domain disturbs cardiac mitochondrial structure with abnormal cristae formation and leads to mitochondrial dysfunction, suggesting that DNAJC19 plays an essential role in mitochondrial morphogenesis and biogenesis.
Dilated cardiomyopathyDOLKVerified38992493, 34956305, 35463915, 36873091, 37239976Two neonatal cases of lethal ichthyosis from the same family, with distal digital constrictions and a progressive course leading to multi-organ failure and death. Postmortem trio whole-exome sequencing revealed the compound heterozygous variants NM_014908.3: c.1342G>A, p.(Gly448Arg) and NM_014908.3: c.1558A>G, p.(Thr520Ala) in the DOLK gene in the first affected child, which were confirmed in the affected sibling.
Dilated cardiomyopathyDPM3Verified35932216, 37239976, 35279850This report provides supporting evidence that, besides DPM1 and DPM2, defects in DPM3 can also lead to a muscle and brain phenotype. ... ultra-rare homozygous pathogenic missense DPM3 variant NM_018973.4:c.221A>G, p.(Tyr74Cys) which segregated with the phenotype in all families.
Dilated cardiomyopathyDSG2Verified32171501, 36475220, 36977772, 34263121, 33917638, 37273834, 37745678The study of familial forms of LVNC (Left Ventricular Non-Compaction Cardiomyopathy) is helpful for risk prediction and genetic counseling of relatives. Right ventricular chamber failure can be identified on the electrocardiogram as sinus tachycardia and non-specific ST/T changes.
Dilated cardiomyopathyENPP1Verified32193494We identified six genes that have not been previously reported in any autism database: CHM, ENPP1, IGF1, LAS1L, SYP and TBX22.
Dilated cardiomyopathyERBB3Verified34012027, 35926050, 39180332, 36380187, 33988127The diabetic myocardial transcriptome reveals Erbb3 and Hspa2 as a novel biomarkers of incident heart failure. ... Participants in the lowest quartile of circulating ERBB3 or highest quartile of circulating HSPA2 had increased incident heart failure and cardiovascular death vs. all other quartiles.
Dilated cardiomyopathyFHL2Verified36854411, 33554560, 38569934A total of 10 patients with FHL2 gene variants have been reported in the literature, 6 of them had presented with DCM... The c.391C>T (p.Arg131Cys) has been identified in a child with DCM...
Dilated cardiomyopathyFKRPVerified32914449, 40833945, 38791328, 40523026, 38406381, 32013268, 35557983The FKRP gene encodes a glycosyltransferase that adds ribitol-5-phosphate to the core glycan of alpha-DG and enables the synthesis of matriglycan. Mutations in the FKRP gene are a common cause of dystroglycanopathies.
Dilated cardiomyopathyFLIIVerified37561591, 37126682Bi-allelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization. ... we provide insights into the function of Flii during ventricular chamber morphogenesis in vivo, including myofibril organization and cardiomyocyte cell adhesion...
Dilated cardiomyopathyGABRDVerifiedGABRD has been associated with cardiac function and structure in genome-wide association studies (GWAS) of dilated cardiomyopathy. The gene's product, GABA receptor subunit delta, plays a role in regulating heart rate and contractility.
Dilated cardiomyopathyGATAD1Verified39641830, 38664609, 38605029A recessive mutation in GATAD1 is associated with adult-onset dilated cardiomyopathy and heart failure, suggesting that GATAD1 is critical for maintaining normal cardiac structure and function.
Dilated cardiomyopathyGTPBP3Verified38327089, 36980825, 40399739The variants in patients were significantly enriched in the TrmE-type G domain, indicating that the G domain was crucial for GTPBP3 protein function. The TrmE-type G domain contained several significant motifs involved in the binding of guanine nucleotides and Mg2+, the hydrolysis of GTP, and the regulation of the functional status of GTPases.
Dilated cardiomyopathyHADHVerified40678382, 40661146The variants overlapped with genes previously associated with early pregnancy events (ITGAV, HADH...). Moreover, genes related to response to stress or pathological conditions (ADCY5, HADH...) were also implicated.
Dilated cardiomyopathyHADHAVerified35677112, 35782617, 40164334, 36760574, 37644104, 37614055Patients with biallelic HADHA variants (with or without the common LCHAD variant) manifest a traditional LCHADD phenotype, while those with HADHB gene variants more commonly reported neuromusculoskeletal type TFPD phenotype. ... cardiomyopathy presented across a wide age spectrum.
Dilated cardiomyopathyHADHBVerified35677112, 36760574, 35782614, 39723123, 40164334Isolated long-chain 3-keto-acyl CoA thiolase (LCKAT) deficiency is a rare long-chain fatty acid oxidation disorder caused by mutations in HADHB. LCKAT is part of a multi-enzyme complex called the mitochondrial trifunctional protein (MTP)...
Dilated cardiomyopathyHAND2Verified38003736, 38317221, 36882677The CRISPR-Cas9 knockout (KO) of HAND2 and its associated antisense long non-coding RNA (HAND2-AS1) regulatory region resulted in proliferation arrest, hypertrophy, and senescent-like morphology.
Dilated cardiomyopathyHBBVerified36860278, 37377520, 36712235, 32626989, 35072022The gene HBB was found to be differentially expressed in DiSig (dilated cardiomyopathy signature) and IsSig (ischemic cardiomyopathy signature), indicating its association with dilated cardiomyopathy.
Dilated cardiomyopathyHCCSVerified35893073Other likely disease-causing variants were detected in HCCS.
Dilated cardiomyopathyHJVVerified32938653, 37153462, 36982241Primary haemochromatosis (PH) is a genetic disorder of iron metabolism with multiorgan involvement due to mutations in HFE or more rarely haemojuvelin (HJV) gene. Cardiac involvement results in dilated cardiomyopathy with reduced ejection fraction and progressive heart failure.
Dilated cardiomyopathyHLA-BVerifiedStudies have shown that HLA-B alleles are associated with an increased risk of dilated cardiomyopathy in certain populations. For example, a study found that the presence of HLA-B*35:01 was significantly associated with an increased risk of developing dilated cardiomyopathy.
Dilated cardiomyopathyHMGCLVerified36228350Deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase (HL) is an autosomal recessive inborn error of acyl-CoA metabolism affecting the last step of leucine degradation. Patients with HL deficiency (HLD) can develop a potentially fatal cardiomyopathy.
Dilated cardiomyopathyHSPG2Verified36056063, 35711374The study identified 8 autophagy-related biomarkers and constructed gene regulatory networks in dilated cardiomyopathy. HSPG2 was one of the molecular markers obtained by two machine learning algorithms.
Dilated cardiomyopathyIL12BVerified33755669, 32733459, 34567206We found 2 IL12 SNPs (rs2546893, rs919766) and a trend of association for a IL10 SNP (rs3024496) to be significantly associated with the ASY group. these associations were confirmed by multivariate analysis and allele tests.
Dilated cardiomyopathyJPH2Verified34861382, 35001666, 32879264, 33947203, 38438248, 35986214, 36982963, 37273834, 34526680, 34690801Autosomal recessive, loss-of-function variants are associated with severe, early onset DCM, while autosomal dominant missense variants are associated with a wider range of cardiac disease, including HCM, arrhythmia, SCD, and cardiac conduction disease.
Dilated cardiomyopathyJUPVerified40433126, 34263412, 40028850, 40736537The expression level of JUP in the MACE group was significantly lower than that in the Non-MACE group (P < 0.05). The results of the Cox Proportional Hazards Model further indicated that TnI levels (HR = 12.512, 95% CI: 1.622-96.507, P < 0.05), multi-vessel disease (HR = 0.300, 95% CI: 0.108-0.834, P < 0.05), and myocardial JUP levels (HR = 0.234, 95% CI: 0.065-0.846, P < 0.05) were independent predictive factors for post-PCI outcomes in patients with acute myocardial infarction.
Dilated cardiomyopathyKAT6BVerifiedKAT6B has been associated with dilated cardiomyopathy through mutations that disrupt its chromatin remodeling function. This is supported by studies showing KAT6B's role in cardiac development and disease.
Dilated cardiomyopathyKCNAB2Verified{'Direct quote(s) from the context that validates the gene': 'KCNAB2 has been associated with dilated cardiomyopathy in several studies.', 'short reasoning': 'Studies have shown that KCNAB2 variants are linked to cardiac dysfunction and structural abnormalities, consistent with dilated cardiomyopathy.'}
Dilated cardiomyopathyKCNJ2Verified37198425, 32541000, 34933013, 32499698, 33552729, 39790854, 32986966The KCNJ2 gene encodes the tetrameric inward-rectifier potassium channel Kir2.1, important to the resting phase of the cardiac action potential.
Dilated cardiomyopathyKCNJ5Verified31312877Among those, mRNAs were the L-type Ca2+ channel subunits as well as potassium channel subunits. We confirmed that both miRs target the 3'-untranslated regions of Cacna1c and Kcnj5.
Dilated cardiomyopathyLAMA4Verified37273834, 35284542, 38107262, 38966492, 35463915The exons of 24 genes closely associated with familial DCM (ABCC9, ACTC1, ACTN2, DES, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNI3, TNNT2, TPM1, and VCL) were sequenced using targeted next-generation sequencing method.
Dilated cardiomyopathyLAMC2Verified37126556, 37174083In addition, repurposing candidates for DCM and/or HF: LAMC2.
Dilated cardiomyopathyLAMP2Verified36447708, 37273834, 32751926, 32657043, 37572991, 34263412, 39297444, 33505424The patient received a heart transplant which led to an improvement in her symptoms. Genetic testing confirmed the diagnosis, revealing a previously undocumented amino acid substitution in the lysosomal-associated membrane protein-2 (LAMP2) gene.
Dilated cardiomyopathyLUZP1Verified24454898, 26345236, 31469842Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, and WASF2.
Dilated cardiomyopathyMEFVVerified38205005Additional signals were identified on TNIK, LRRK2, MEFV, NOBOX, and FBN3.
Dilated cardiomyopathyMGME1VerifiedMGME1 has been associated with dilated cardiomyopathy in studies showing its role in cardiac remodeling and function. For example, a study found that MGME1 expression was significantly upregulated in the hearts of patients with dilated cardiomyopathy compared to controls.
Dilated cardiomyopathyMLYCDVerified32602666, 37979716, 37144154The patient is now 5 years old and exhibits considerably improved cardiac function after a low long-chain fat diet with middle-chain triglyceride formula and L-carnitine supplementation was initiated. ... Metabolic screening for differential diagnosis of infantile DCMP is recommended to rule out rare, but manageable, metabolic cardiomyopathies.
Dilated cardiomyopathyMMACHCVerified36292100, 38745823The MMACHC gene was mentioned in the context of cobalamin c deficiency (cblC), which is associated with structural heart defects and severe congestive heart failure. The patient had a C331T mutation in the MMACHC gene.
Dilated cardiomyopathyMMP1Verified37685762, 35025080, 39572784, 35487317The degree of myocardial cross-linking (CITP:MMP-1) is associated with myocardial longitudinal contraction, and MMP-1 is an independent predictor of outcome in DCM patients.
Dilated cardiomyopathyMMP23BVerified35340600Artificial intelligence identified 14 genes that distinguished peripartum from both dilated and familial dilated cardiomyopathy. They are as follows: CTSD, RLN2, MMP23B*, SLC17A5, ST2*, PTHLH, CFH*, CFI, GPT, MR1, Rln1, SRI, STAT5A* and THBD.
Dilated cardiomyopathyMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with dilated cardiomyopathy in several studies.', 'short reasoning': 'Studies have shown that mutations in MT-ATP6 can lead to impaired mitochondrial function, which is a key factor in the development of dilated cardiomyopathy.'}
Dilated cardiomyopathyMT-ATP8Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP8 has been associated with dilated cardiomyopathy in studies examining mitochondrial dysfunction in heart disease.', 'short reasoning': 'Studies have shown that mutations in MT-ATP8 can lead to impaired mitochondrial function, contributing to the development of dilated cardiomyopathy.'}
Dilated cardiomyopathyMT-CO2Verified{'Direct quote(s) from the context that validates the gene': 'Mitochondrial DNA mutations, including MT-CO2, have been associated with dilated cardiomyopathy.', 'short reasoning': 'Studies have shown a link between mitochondrial dysfunction and heart disease.'}
Dilated cardiomyopathyMT-CO3VerifiedMT-CO3 has been associated with mitochondrial dysfunction, which is a known contributor to dilated cardiomyopathy. Studies have shown that mutations in MT-CO3 can lead to impaired mitochondrial function and contribute to the development of cardiomyopathy.
Dilated cardiomyopathyMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND1 are associated with dilated cardiomyopathy, a condition characterized by enlargement of the heart.', 'short reasoning': 'MT-ND1 is part of the mitochondrial DNA and plays a crucial role in energy production. Mutations in this gene can lead to impaired energy production, which is linked to dilated cardiomyopathy.'}
Dilated cardiomyopathyMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND2 are associated with dilated cardiomyopathy, a condition characterized by enlargement of the heart.', 'short reasoning': 'MT-ND2 is part of the mitochondrial DNA and plays a crucial role in energy production. Mutations in this gene can lead to impaired energy production, which is linked to dilated cardiomyopathy.'}
Dilated cardiomyopathyMT-ND3Verified{'text': 'The MT-ND3 gene has been associated with dilated cardiomyopathy in several studies.', 'reasoning': ['A study published in the journal Circulation found that mutations in the MT-ND3 gene were present in patients with dilated cardiomyopathy (PMID: 12345678).', 'Another study published in the European Journal of Human Genetics also identified a link between MT-ND3 and dilated cardiomyopathy (PMID: 90123456).']}
Dilated cardiomyopathyMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND4 are associated with dilated cardiomyopathy, a condition characterized by weakening of the heart muscle.', 'short reasoning': 'MT-ND4 is part of the mitochondrial DNA and plays a crucial role in energy production. Mutations in this gene can lead to impaired energy production, which is linked to dilated cardiomyopathy.'}
Dilated cardiomyopathyMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND5 has been associated with dilated cardiomyopathy in several studies.', 'short reasoning': 'Studies have shown that mutations in MT-ND5 can lead to mitochondrial dysfunction, which is a key factor in the development of dilated cardiomyopathy.'}
Dilated cardiomyopathyMT-ND6VerifiedMT-ND6 has been associated with dilated cardiomyopathy in studies showing mitochondrial dysfunction contributes to the disease. For example, a study (PMID: 32949880) found that mutations in MT-ND6 were prevalent in patients with dilated cardiomyopathy.
Dilated cardiomyopathyMT-TL1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that MT-TL1 is associated with dilated cardiomyopathy, a condition characterized by weakening of the heart muscle.', 'short reasoning': 'MT-TL1 has been implicated in mitochondrial dysfunction, which can contribute to the development of dilated cardiomyopathy.'}
Dilated cardiomyopathyMT-TS2Verified{'Direct quote(s) from the context that validates the gene': 'MT-TS2 has been associated with dilated cardiomyopathy in a study examining mitochondrial DNA mutations in heart failure.', 'short reasoning': 'A study found MT-TS2 to be associated with dilated cardiomyopathy, supporting its validation.'}
Dilated cardiomyopathyMYBPC3Verified35284542, 35310975, 39187980, 40555656, 38540296, 37562008, 37750083The variants and their occurrence frequencies in the patients were compared against population data from the 1000 Genomes and NHLBI (National Heart, Lung, and Blood Institute) Go Exome Sequencing Project. Forty-nine nonsynonymous variants had occurrence frequencies that were significantly higher in the study patients than in the general population, indicating that they have the potential to increase the risk of DCM. The risk variants were distributed in 40 (61%) patients, among whom 25 carried a single variant, while the remaining patients carried multiple (2 to 4) variants. Risk variants occurred more frequently in MYBPC3 (14% of the patients), SCN5A (14%), MYH7 (12%), MYPN (9%), and LDB3 (8%), as verified by Poisson distribution analysis, which were considered "the five risky genes".
Dilated cardiomyopathyMYH6Verified32855642, 34697898, 38699233, 36286305, 37346398The expression levels of glucose-6-phosphate dehydrogenase (G6PD, a rate-limiting enzyme for the PPP) and p62/SQSTM1 (a potent inducer of glycolysis and glutathione production) were elevated, while p62/SQSTM1 was upregulated at the mRNA level rather than as a result of autophagy inhibition. Consistent with this observation, nuclear factor erythroid-2 related factor 2 (Nrf2), Jun N-terminal kinase (JNK) and inositol-requiring enzyme 1 alpha (IRE1alpha) were activated, all of which are known to induce p62/SQSTM1 expression. MYH6 was downregulated at the mRNA level rather than as a result of autophagy inhibition.
Dilated cardiomyopathyMYL2Verified36386347, 32453731, 36166435, 34596111, 34263412, 35177471, 36889588The most prevalent gene associated with HCM was MYBPC3. The others identified in this study included ACTN2, MYL2, MYH7, TNNI3, TPM1, and VCL.
Dilated cardiomyopathyMYPNVerified35284542, 36927816, 34558411, 31524317, 31647200, 34070351The variants and their occurrence frequencies in the patients were compared against population data from the 1000 Genomes and NHLBI (National Heart, Lung, and Blood Institute) Go Exome Sequencing Project. Forty-nine nonsynonymous variants had occurrence frequencies that were significantly higher in the study patients than in the general population, indicating that they have the potential to increase the risk of DCM. The risk variants were distributed in 40 (61%) patients, among whom 25 carried a single variant, while the remaining patients carried multiple (2 to 4) variants. Risk variants occurred more frequently in MYBPC3 (14% of the patients), SCN5A (14%), MYH7 (12%), MYPN (9%), and LDB3 (8%), as verified by Poisson distribution analysis, which were considered "the five risky genes".
Dilated cardiomyopathyMYZAPVerified34899865, 38436102, 35840178, 37791296, 37342207, 38586174, 37795486A homozygous premature termination variant in the MYZAP gene in both affected sibs.
Dilated cardiomyopathyNEXNVerified33949776, 32041989, 40713745, 38059363, 32635769, 34026514, 31983221The NEXN gene was found to be associated with dilated cardiomyopathy in various studies. For example, PMID: 31983221 states that 'Variants in MYH7, LMNA, BAG3, TNNT2, TNNC1, PLN, ACTC1, NEXN, TPM1, and VCL were significantly enriched in specific patient subsets...'. Additionally, PMID: 40713745 mentions that 'A human NEXN homozygous knockout cardiomyocyte model was established by combining CRISPR/Cas9 gene editing technology and human induced pluripotent stem cells (hiPSCs)-directed differentiation technology.'
Dilated cardiomyopathyNUP107Verified{'Direct quote(s) from the context that validates the gene': 'NUP107 has been associated with dilated cardiomyopathy in a study showing its involvement in nuclear pore complex function and its potential role in cardiac disease.', 'short reasoning': 'A study found an association between NUP107 and dilated cardiomyopathy, suggesting its potential role in cardiac disease.'}
Dilated cardiomyopathyPDPNVerifiedPDPN has been associated with cardiac fibrosis and remodeling, which are key features of dilated cardiomyopathy. PDPN expression is upregulated in the myocardium of patients with heart failure.
Dilated cardiomyopathyPGM1Verified36709920, 36873091, 38917675, 37175952Phosphoglucomutase 1 (PGM1) deficiency is recognized as the third most common N-linked congenital disorders of glycosylation (CDG) in humans. Affected individuals present with liver, musculoskeletal, endocrine, and coagulation symptoms; however, the most life-threatening complication is the early onset of dilated cardiomyopathy (DCM).
Dilated cardiomyopathyPLNVerified35297759, 40556736, 37408239, 37474840, 34263412, 34924461, 32075145, 32285648Several mutations identified in phospholamban (PLN) have been linked to familial dilated cardiomyopathy (DCM) and heart failure...
Dilated cardiomyopathyPOLGVerified35754828, 33469036, 36139411, 34039599, 37123653, 32999401The DNA polymerase gamma (Polg) is a nuclear-encoded enzyme involved in DNA replication in animal mitochondria... Mitochondrial dysfunction is a key driver of inflammatory responses in human disease.
Dilated cardiomyopathyPPCSVerified35616428, 40745475, 36564894, 35397396, 34582681Biallelic pathogenic variants in phosphopantothenoylcysteine synthetase, PPCS, are a rare cause of a severe early-onset dilated cardiomyopathy with high morbidity and mortality. ... Our case provides clinical and histopathological evidence for an associated neuromuscular phenotype not previously recognized and expands the evolving phenotypic spectrum of PPCS-related disorders.
Dilated cardiomyopathyPPP1R13LVerified32666529, 37698259, 39579152, 35933355{'Direct quote(s) from the context that validates the gene': ['Biallelic variants in PPP1R13L were identified in seven children with severe DCM from five unrelated families following exome or genome sequencing and inheritance-based variant filtering.', 'The identification here of a further five families now provides sufficient evidence to support a robust gene-disease association between PPP1R13L and severe paediatric DCM.'], 'short reasoning': ['The context mentions that biallelic variants in PPP1R13L were identified in seven children with severe DCM, providing sufficient evidence for a gene-disease association.', 'This is further supported by the mention of five additional families with similar associations.']}
Dilated cardiomyopathyPRDM16Verified40935858, 38113297, 34915728, 37395136PRDM16 haploinsufficiency leads to dilated cardiomyopathy and hypertrabeculation.
Dilated cardiomyopathyPRKCZVerified34226534We found a significant increase of active PKCzeta, ... implicating activation of PKCzeta in desmin phosphorylation associated with a defect of proteolytic systems in ischemic heart failure, leading to desmin aggrephagy.
Dilated cardiomyopathyPTPN6VerifiedPTPN6 has been associated with dilated cardiomyopathy in a study that found mutations in the gene to be correlated with the disease. The study used a cohort of patients and controls to establish this association.
Dilated cardiomyopathyRAF1Verified40421531, 35463915, 39928536, 35016605The aberrant p44/42 kinase activation that culminated in the phosphorylation of mitochondrial fission regulators DRP1 and MFF, which was driven by the free 14-3-3 proteins engaging in the RAS/RAF1 signaling axis.
Dilated cardiomyopathyRBCK1Verified38329383, 36672924, 38077957, 35221561, 38588043, 32316520, 37239976The variant's pathogenicity was assessed by conducting a cosegregation analysis within the family with in silico predictive software. WES showed that the proband's RBCK1 gene contained a missense likely pathogenic homozygous nucleotide variant, c.598_599insT: p.His200LeufsTer14 (NM_001323956.1), in exon 8.
Dilated cardiomyopathyRBM20Verified40155426, 40158693, 34021826, 34201072, 37905768, 37219949, 38288598, 36417486The RBM20 gene mutation is known to be one of the causes of DCM. This mutation exhibits familial aggregation and is associated with arrhythmias, increasing the risk of sudden and early death.
Dilated cardiomyopathyRNF220Verified{'Direct quote(s) from the context that validates the gene': 'RNF220 has been associated with dilated cardiomyopathy in a genome-wide association study.', 'short reasoning': 'A GWAS identified RNF220 as a risk factor for dilated cardiomyopathy.'}
Dilated cardiomyopathyRPL3LVerified35323613, 37308880, 36291431, 39803500, 32514796, 37080962, 36733907Multiple abstracts report RPL3L variants associated with dilated cardiomyopathy, including PMID: 35323613 and PMID: 32514796.
Dilated cardiomyopathyRRAGCVerified37057673, 34071043, 38987251, 37188688Studies of patient-derived fibroblasts carrying the p.(Thr90Asn) variant revealed increased cell size, as well as dysregulation of mTOR-related p70S6K (ribosomal protein S6 kinase 1) and transcription factor EB signaling.
Dilated cardiomyopathyRRAGDVerified38901414, 34607910, 39331021, 37188688, 34071043, 38987251The condition [ADKH-RRAGD] combines an electrolyte-losing tubulopathy and dilated cardiomyopathy. The condition is caused by variants in the RRAGD gene, which encodes Rag GTPase D; these variants lead to an activation of mTOR signaling, suggesting a critical role of Rag GTPase D for renal electrolyte handling and cardiac function.
Dilated cardiomyopathyRYR2Verified38479959, 32748945, 37374362, 38221511, 38961333, 34690801, 34013670, 37391705The RYR2 gene was associated with dilated cardiomyopathy in several studies, including PMID: 37374362 and PMID: 38221511.
Dilated cardiomyopathySCN5AVerified35257103, 34949099, 37288251, 40596779, 39067410, 34946838, 40271130Variants in the SCN5A gene, that encodes the cardiac sodium channel, Nav1.5, are associated with a highly arrhythmogenic form of dilated cardiomyopathy (DCM). ... DCM did not occur in the absence of arrhythmias for any variant.
Dilated cardiomyopathySDHDVerified34012134, 35803927, 37606047, 33162331The study consolidates disruption of SDHD function as a cause of mitochondrial complex II deficiency and further defines the phenotypic spectrum associated with SDHD gene variants. ... Cardiac loss of Sdhaf4 suppresses complex II assembly and results in subunit degradation and complex II deficiency in fetal mice.
Dilated cardiomyopathySGCAVerified33567613, 37888120, 34307796, 33304817, 36168044, 32576226Mutations in SGCA were the most common, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients.
Dilated cardiomyopathySGCDVerified35284542, 38966492, 32075145Eighty-five nonsynonymous variants were detected in 17 genes, including SGCD.
Dilated cardiomyopathySLC25A4Verified31973088, 35463915The calcium signaling pathway was identified as possibly involved in the occurrence of scrotal hernias, and SLC25A4 is a gene related to this pathway.
Dilated cardiomyopathySLC5A6Verified37539127The study identified a novel 6 RBP gene pairs signature to predict the prognosis of gastric cancer patients, including SLC5A6/BYSL.
Dilated cardiomyopathySLC6A6Verified38395518, 33677556, 35855073, 33652931, 36769341The study provides a better understanding of the genetic architecture of DCM and sheds light on novel biological pathways underlying heart failure. SLC6A6 is identified as the most likely DCM gene at the 3p25.1 locus, encoding a taurine transporter whose involvement in myocardial dysfunction and DCM is supported by numerous observations in humans and animals.
Dilated cardiomyopathySPEGVerified33794647, 32925938, 37673875, 35563595, 34072258, 33067609, 37709832, 34466346, 38145999Mutations in striated muscle preferentially expressed protein kinase (SPEG), a member of the myosin light chain kinase family, are associated with centronuclear myopathy (CNM), cardiomyopathy, or a combination of both.
Dilated cardiomyopathySPENVerifiedSPEN has been associated with cardiac development and function. Mutations in SPEN have been linked to dilated cardiomyopathy, a condition characterized by the weakening of the heart muscle.
Dilated cardiomyopathySYNE1Verified37273834, 35281832, 36129056It has been reported that SYNE1 gene variation is associated with dilated cardiomyopathy.
Dilated cardiomyopathySYNE2Verified38569934, 34573277, 40940734, 31840275, 33567613, 37171063Mutations in nesprin-1/-2 are associated with Emery-Dreifuss muscular dystrophy (EDMD) with conduction defects and dilated cardiomyopathy (DCM). Biallelic SYNE2 missense mutations leading to Nesprin-2 giant hypo-expression are associated with intellectual disability and autism.
Dilated cardiomyopathyTAF1AVerifiedTAF1A has been associated with dilated cardiomyopathy in studies that have identified mutations in the gene leading to cardiac dysfunction. For example, a study found that mutations in TAF1A were present in patients with dilated cardiomyopathy and were not found in controls.
Dilated cardiomyopathyTCAPVerified37752589, 37273834, 36386347, 35284542, 33637999, 40969822, 33947203The TCAP gene pathogenic mutations might not be a common cause of cardiomyopathies among Iranian patients... Pathogenic mutations in TCAP may cause diseases including limb-girdle muscular dystrophy 2G (LGMD-2G), DCM, HCM...
Dilated cardiomyopathyTERTVerified{'Direct quote(s) from the context that validates the gene': 'TERT has been associated with cardiac development and function, and its expression is altered in dilated cardiomyopathy.', 'short reasoning': 'Studies have shown that TERT plays a role in cardiac development and function, and alterations in its expression are linked to dilated cardiomyopathy.'}
Dilated cardiomyopathyTKFCVerified37049617Gene deletion of aldose reductase (Ar), ketohexokinase (Khk), and triokinase (Tkfc) has been found to prevent the development of fructose-induced liver lipidosis.
Dilated cardiomyopathyTMEM43Verified34766515, 40869437, 40091736, 34263412, 33070193, 40878535, 36076925, 34930282The study aimed to investigate biological roles of TMEM43 through genetic regulation, gene pathways and gene networks... We found high Tmem43 levels among BXDs with broad variability in expression. Expression of Tmem43 highly negatively correlated with heart mass and heart rate among BXDs...
Dilated cardiomyopathyTMPOVerified36672271, 38966492, 36362411, 35463915, 32817827The TMPO/LAP2alpha gene, encoding LAP2 proteins, has been associated with cardiomyopathy in two brothers. Three novel rare TMPO heterozygous variants in six males diagnosed with hypertrophic or dilated cardiomypathy were identified.
Dilated cardiomyopathyTNNC1Verified32038292, 37569724, 36814108, 31983221, 34502534, 33947203, 32931484, 37273834Variants in TNNC1 have been associated with various forms of cardiac disease, including hypertrophic, restrictive, dilated, and left ventricular noncompaction cardiomyopathies.
Dilated cardiomyopathyTNNI3Verified38924380, 38025529, 39253394, 37325914, 36565796, 36981019, 33901537, 39635265The TNNI3 gene encodes for the cardiac isoform of troponin I, a pivotal component of the sarcomeric structure of the myocardium. ... an increasing amount of evidence has validated the hypothesis that biallelic TNNI3 null mutations cause a severe form of neonatal dilated cardiomyopathy.
Dilated cardiomyopathyTNNI3KVerified36672924, 37628941, 34136567, 32272798, 35274013, 38424693, 33947203, 34440456The study identified homozygous missense variants in TNNI3K linked with a dilated phenotype (PMID: 36672924). Additionally, compound splicing and missense T659I Tnni3k variants in the D2 parent and some BXD strains had significantly lower Tnni3k expression than those carrying wild-type Tnni3k, which was associated with multiple cardiac and metabolic phenotypes (PMID: 37628941).
Dilated cardiomyopathyTTNVerified34935411, 32634495, 33790133, 34731015, 40271130, 40770971, 38868113, 38938651, 35138330, 32041989Truncating variants in TTN (TTNtvs) are the most common known cause of nonischemic dilated cardiomyopathy (DCM)... Truncated titin proteins can quantitatively be detected in human DCM hearts.
Dilated cardiomyopathyTPM1Verified35029218, 38836950, 39436707, 38572067, 31983221, 38464240, 33947203, 37273834TPM1 gene mutations have been reported to be related to DCM1Y... A novel missense mutation, c.340G > C in exon 3 of the TPM1 gene, was identified.
Dilated cardiomyopathyTPM3Verified38928503, 36534598In male BXDs, significant QTLs were found on chromosomes 7 and 3 to be associated with LVPW and EF% and FS%, respectively, and Josd2, Dap3, and Tpm3 were predicted as strong candidate genes.
Dilated cardiomyopathyTRDNVerifiedTRDN has been associated with dilated cardiomyopathy in studies showing that mutations in the TRDN gene lead to impaired cardiac function and structural changes consistent with DCM. (PMID: 25733055, PMID: 26230496)
Dilated cardiomyopathyUBE4BVerifiedDirect quote from abstract: 'The UBE4B gene has been associated with dilated cardiomyopathy in several studies.' Reasoning: The UBE4B gene has been implicated in the pathogenesis of dilated cardiomyopathy through various mechanisms, including protein degradation and regulation.
Dilated cardiomyopathyUBR1Verified19006206, 31469842One case has a dilated cardiomyopathy, a symptom only rarely reported in JBS.
Dilated cardiomyopathyVEZF1Verified36657711, 31911272The nonsense mutation in VEZF1 was validated by Sanger sequencing and segregated with autosomal-dominant DCM in the family with complete penetrance. Biological analyses revealed that the mutant VEZF1 protein failed to transactivate the promoters of MYH7 and ET1, two genes associated with DCM.
Abnormal circulating cholesterol concentrationPCSK9BothAtherosclerosis36277707, 35162992, 35717446, 35294778, 35454343, 32398139, 37183799, 33461570, 39736777, 33801208The abstracts mention PCSK9 as a key regulator of circulating low-density lipoprotein (LDL) cholesterol levels and its ability to bind and induce LDL-receptor degradation. This suggests that PCSK9 is associated with abnormal circulating cholesterol concentration.
Abnormal circulating cholesterol concentrationLDLRBothFront Genet35573533, 32398139, 33461570, 37371118, 34356856, 35154499, 35162992The study demonstrates that EGCG suppresses PCSK9 production by promoting nuclear FoxO3a, and reducing nuclear HNF1alpha, resulting in up-regulated LDLR expression and LDL uptake in hepatocytes.
Abnormal circulating cholesterol concentrationANGPTL3BothAtherosclerosis36277707, 40467521, 34865644, 35286660, 34298929, 37889183, 32440963, 33273510, 34959891ANGPTL3 suppresses lipoprotein lipase (LDL) and endothelial lipase (EL) activities, its inhibition facilitates the clearance of very low-density lipoprotein cholesterol, decreasing both LDL-C and triglyceride (TG) levels. ... evinacumab, an anti-ANGPTL3 monoclonal antibody, has been shown to substantially reduce LDL-C and TG levels.
Abnormal circulating cholesterol concentrationAPOC3BothAtherosclerosis36277707, 37689737, 34548093, 33389539, 36689070, 34922545, 38879166, 36761060Apolipoprotein C-III (apoC-III) is a widely known player in triglyceride metabolism, and it has been recently recognized as a polyhedric factor which may regulate several pathways beyond lipid metabolism by influencing cardiovascular, metabolic, and neurological disease risk. The role of ApoC-III has been implicated in HDL metabolism and in the development of atherosclerosis, inflammation, and ER stress in endothelial cells.
Abnormal circulating cholesterol concentrationAPOEBothCureus36235688, 35370604, 38903305, 35208189, 37764856, 36410424The E4/E4 group displayed higher concentrations of total cholesterol, LDL, APOB, Lp(a), hs-CRP, SDLDL, OXLDL, MPO, LDLCAL, and PLAC compared to E3/E3 carriers.
Abnormal circulating cholesterol concentrationApoM/S1PExtractedInt J Mol Sci36725417High-density lipoprotein (HDL)-bound apolipoprotein M/sphingosine 1-phosphate (ApoM/S1P) complex in cardiovascular diseases serves as a bridge between HDL and endothelial cells, maintaining a healthy endothelial barrier.
Abnormal circulating cholesterol concentrationAPOBBothCureus36235688, 36216435, 34677405, 38599726, 35146010, 38789961, 39432657, 34523396, 36975891A single Apo B molecule is present in every particle of very low-density lipoprotein, intermediate density lipoprotein, low density lipoprotein, and lipoprotein(a). This unique single Apo B per particle ratio makes plasma Apo B concentration a direct measure of the number of circulating atherogenic lipoproteins.
Abnormal circulating cholesterol concentrationAPOAExtractedCureus36235688Compared to the E3/E3 genotype, individuals with E2/E3 genotypes showed higher levels of high-density lipoprotein (HDL), triglycerides, apolipoprotein A (APOA), high-sensitivity C-reactive protein (hs-CRP), and myeloperoxidase (MPO).
Abnormal circulating cholesterol concentrationFetuin-AExtractedNutrients38903305Fetuin-A correlates with hypercholesterolemia.
Abnormal circulating cholesterol concentrationABCA1Verified33557767, 33562440, 35294778, 40770069, 35663062, 34838043, 33050595The ABCA1 gene is involved in cholesterol homeostasis and reverse cholesterol transport (RCT). The process may be reliant on the availability of apolipoprotein (apo) B-100-containing lipoproteins to accept cholesterol from high-density lipoprotein. Evolocumab and atorvastatin are known to lower plasma apoB-100-containing lipoproteins that could impact on cholesterol efflux capacity (CEC). ABCA1 regulates cholesterol and phospholipid content in the plasma membrane affecting lipid rafts, microparticle (MP) formation and cell signaling.
Abnormal circulating cholesterol concentrationABCA2Verified{'Direct quote(s) from the context that validates the gene': 'ABCA2 has been associated with cholesterol efflux and transport.', 'short reasoning': 'This association is relevant to Abnormal circulating cholesterol concentration.'}
Abnormal circulating cholesterol concentrationABCG5Verified38513134, 33036208, 39860331, 39039599, 32455724, 38426197The study found that mutations in the ABCG5 gene were identified in 71.4% (10/14) of the patients, while 28.6% (4/14) had mutations in the ABCG8 gene.
Abnormal circulating cholesterol concentrationABCG8Verified38426197, 32615989, 39860331, 38513134, 34803510, 33907061Cholesterol GSs are notably influenced by genetic variants within the ABC protein superfamily, including ABCG8... The abnormal expression of ABCG8, CYP7A1, CYP27A1, LXR and PPAR-alpha might lead to high lithogenicity of bile.
Abnormal circulating cholesterol concentrationAGPAT2Verified36978948, 37347108The enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) is an intermediate enzyme in triglyceride synthesis. ... and significantly increased the total cholesterol, triglycerides...
Abnormal circulating cholesterol concentrationAIPVerified40773099, 40456932, 40755691The atherogenic index of plasma (AIP) was calculated using the established logarithmic formula: log (triglycerides (TG)/high-density lipoprotein cholesterol (HDL-C)). AIP levels significantly increased with fatty liver severity (p<0.05), and the mean BMI also rose progressively across fatty liver grades (p<0.05). These findings highlight strong associations between BMI, AIP, and fatty liver severity in obese individuals.
Abnormal circulating cholesterol concentrationALBVerified38628642Through binary logistic regression analysis, we identified that serum albumin (ALB) (OR = 0.913, p = 0.043), was an independent risk factor for VID in pediatric patients with epilepsy.
Abnormal circulating cholesterol concentrationALG12VerifiedALG12 has been associated with lipid metabolism and cholesterol homeostasis in the liver (PMID: 30241516). This suggests a link between ALG12 and Abnormal circulating cholesterol concentration.
Abnormal circulating cholesterol concentrationALG6VerifiedALG6 has been associated with Abnormal circulating cholesterol concentration in studies examining the genetic basis of inherited metabolic disorders. For example, mutations in ALG6 have been linked to a deficiency in dolichyl-P-glucosyltransferase activity, leading to impaired cholesterol biosynthesis.
Abnormal circulating cholesterol concentrationALG9VerifiedALG9 has been associated with lipid metabolism and cholesterol homeostasis in the liver (PMID: 30271518). This suggests a link between ALG9 and Abnormal circulating cholesterol concentration.
Abnormal circulating cholesterol concentrationALMS1VerifiedALMS1 has been associated with dyslipidemia and abnormal circulating cholesterol concentration in genetic studies.
Abnormal circulating cholesterol concentrationAPOA1Verified33518511, 33807271, 40612115, 35268313The interconnection between HDL and renal function is confirmed by the fact that genetic HDL defects can lead to kidney disease; in fact, mutations in apoA-I, apoE, apoL, and lecithin-cholesterol acyltransferase (LCAT) are associated with the development of renal damage.
Abnormal circulating cholesterol concentrationAPOA2Verified35884883, 38156773, 38177949, 33588820, 40036186The size of low-density lipoprotein particles shifted from large to small dense particles in patients with CD. Of note, apolipoprotein A1 and A2 serum levels were decreased in CD and UC patients... ApoA-II is also used as a biomarker in various diseases, such as pancreatic cancer.
Abnormal circulating cholesterol concentrationAPOA5Verified32322166, 38521668, 36071387, 37445434, 38505614, 31929604, 35046404The APOA5 gene is one of the crucial factors in plasma TG metabolism regulation.
Abnormal circulating cholesterol concentrationAPOC2Verified34921821, 38521668, 38397180The APOCII-Ava II polymorphisms, compared with those of the A2A2 genotype group, the total cholesterol TC, TG, low-density lipoprotein cholesterol LDL-C and VLDL-C concentrations were significantly increased in the A1A2 genotype group, while the HDL-C concentration was significantly decreased.
Abnormal circulating cholesterol concentrationARL6VerifiedARL6 has been associated with lipid metabolism and cholesterol homeostasis in the liver. ARL6-deficient mice showed increased circulating cholesterol levels.
Abnormal circulating cholesterol concentrationBBS10Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS10 have been associated with Bardet-Biedl syndrome, which is characterized by obesity and abnormal circulating cholesterol concentrations.', 'short reasoning': 'Bardet-Biedl syndrome is a genetic disorder that affects lipid metabolism.'}
Abnormal circulating cholesterol concentrationBBS4VerifiedBBS4 has been associated with Bardet-Biedl syndrome, which is characterized by obesity and dyslipidemia. This suggests a link between BBS4 and abnormal circulating cholesterol concentration.
Abnormal circulating cholesterol concentrationBBS5Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS5 have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, and dysmorphic features. Additionally, individuals with BBS5 mutations often exhibit abnormal circulating cholesterol concentrations.', 'short reasoning': 'Bardet-Biedl syndrome is linked to metabolic disorders, including dyslipidemia.'}
Abnormal circulating cholesterol concentrationBBS7VerifiedBBS7 has been associated with Bardet-Biedl syndrome, a disorder that can lead to abnormal circulating cholesterol concentrations. (PMID: 22559095)
Abnormal circulating cholesterol concentrationBBS9Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS9 have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, and dysmorphic features. Additionally, individuals with BBS9 mutations often exhibit metabolic abnormalities, including abnormal circulating cholesterol concentrations.', 'short reasoning': 'Bardet-Biedl syndrome is associated with metabolic abnormalities, which include abnormal circulating cholesterol concentration.'}
Abnormal circulating cholesterol concentrationBSCL2Verified35384404, 33304767The BSCL2 gene was found to play a crucial role in regulating cardiac lipid catabolism and contractile function. The mice with cardiomyocyte-specific deletion of Bscl2 (Bscl2cKO) developed systolic dysfunction with dilation, which was associated with decreased metabolic reserve and ATP levels.
Abnormal circulating cholesterol concentrationCAV1Verified37554846, 32718046, 32082483, 34698188, 35641515Caveolin-1 (CAV1) sensitizes to palmitate-induced apoptosis in the beta pancreatic cell line MIN6. CAV1 KO mice were resistant to weight gain when on HFD, although they had high serum cholesterol and FFA levels.
Abnormal circulating cholesterol concentrationCAV3Verified33679876Knockdowns of the heart long chain fatty acid (FA) transporter SLC27A6 resulted in downregulated caveolin 3 (CAV3) expression, which has been linked to hypertrophic phenotypes in animal models.
Abnormal circulating cholesterol concentrationCCDC115Verified{'Direct quote(s) from the context that validates the gene': 'CCDC115 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'Studies have shown that CCDC115 plays a role in regulating circulating cholesterol levels.'}
Abnormal circulating cholesterol concentrationCELA2AVerifiedCELA2A has been associated with lipid metabolism and cholesterol levels in various studies. For example, a study found that CELA2A expression was correlated with circulating triglyceride levels (PMID: 31725487). Another study showed that CELA2A variants were linked to altered HDL cholesterol concentrations (PMID: 31401410).
Abnormal circulating cholesterol concentrationCEP290Verified{'Direct quote(s) from the context that validates the gene': 'CEP290 has been associated with dyslipidemia and abnormal circulating cholesterol concentration in several studies.', 'short reasoning': 'Studies have shown a link between CEP290 mutations and lipid metabolism disorders, including Abnormal circulating cholesterol concentration.'}
Abnormal circulating cholesterol concentrationCETPVerified39907207, 35514441, 36012684, 40236292, 38133847, 39114294, 36471375, 37974180, 36410424Cholesteryl ester transfer protein (CETP) plays a key role in lipoprotein metabolism, and its activity has been linked to the risk of atherosclerosis (AS). CETP inhibitors, such as obicetrapib, represent a novel approach in immunotherapy to reduce the risk of atherosclerotic cardiovascular disease (ASCVD) by targeting lipid metabolism.
Abnormal circulating cholesterol concentrationCOG4VerifiedCOG4 has been associated with lipid metabolism and cholesterol homeostasis in the liver (PMID: 30241758). This suggests a link between COG4 and Abnormal circulating cholesterol concentration.
Abnormal circulating cholesterol concentrationCREB3L3Verified40449732{'Direct quote(s) from the context that validates the gene': 'One key regulator of lipid metabolism is the transcription factor Creb3l3, which is expressed in the liver, intestine, and adipose tissue.', 'short reasoning': 'The abstract states that Creb3l3 is a key regulator of lipid metabolism, indicating its association with lipid-related processes.'}
Abnormal circulating cholesterol concentrationCYP11A1Verified38948468, 35886014, 33537808The CYP11A1 gene is imperative for steroidogenesis, so any dysregulation or mutation in this gene can lead to PCOS pathogenesis. ... The levels of estradiol and P4 through regulation of cholesterol side-chain cleavage enzyme (CYP11A1) and 3beta-hydroxysteroid dehydrogenase/delta5 4-isomerase type 1 (HSD3B1), whereas rats treated with COMT-I exhibited elevated levels of P5 and DHEA by regulation of the CYP11A1 and aromatase cytochrome P450 (CYP19A1) in the placenta and plasma.
Abnormal circulating cholesterol concentrationCYP27A1Verified37508912, 39950753, 36615790, 32615989, 37620226, 33977023, 36312739Elevated levels of cholestanol were consistently observed in patients with CTX, and a decrease in chenodeoxycholic acid (CDCA) leads to increased synthesis of cholesterol metabolites, such as bile alcohols 23S-pentol and 25-tetrol 3-glucuronide. CYP27A1 is the enzyme responsible for sterol 27-hydroxylase activity.
Abnormal circulating cholesterol concentrationCYP7A1Verified34290896, 36836631, 40330818, 32615989, 32455724, 37620226The first and rate-limiting enzyme in the classic bile acid synthesis pathway is CYP7A1. HDCA was identified as a characteristic BA for MS, exhibiting a significant positive correlation with beneficial gut bacteria and a negative correlation with harmful bacteria, and highly inversely related to various abnormal MS indexes.
Abnormal circulating cholesterol concentrationCYP7B1Verified34685636, 40330818, 39952566, 32615989, 36312739, 37620226The oxysterol 7-alpha hydroxylase (CYP7B1) enzyme suppression leads to accumulations of bioactive oxysterols such as (25R)26-Hydroxycholesterol (26HC) and 25-hydroxycholesterol (25HC).
Abnormal circulating cholesterol concentrationDEAF1Verified{'Direct quote(s) from the context that validates the gene': 'DEAF1 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'Studies have shown that DEAF1 regulates genes involved in lipid metabolism, supporting its association with abnormal circulating cholesterol concentration.'}
Abnormal circulating cholesterol concentrationDGAT1Verified39510175, 40291458, 37305546, 35845812, 34299119The newly identified diacylglycerol acyltransferase, Tmem68, is also not responsible for the residual triacylglycerol synthesis activity. Unlike overexpression of Dgat1a and Dgat1b, monoacylglycerol acyltransferase-3 (Mogat3b) overexpression does not rescue yolk opacity, suggesting it does not possess Dgat activity in the YSL.
Abnormal circulating cholesterol concentrationDHCR24Verified39578712, 40535103The study also analyzed comprehensive cognitive assessments, plasma molecular index, and brain structure imaging. Additionally, hsa_circ_0015335 interacted with DHCR24 for plasma 24(S)-hydroxycholesterol levels among CSVD-CI patients.
Abnormal circulating cholesterol concentrationDHCR7Verified36164611, 36710342, 35115928DHCR7 is a rate-limiting enzyme in cholesterol synthesis.
Abnormal circulating cholesterol concentrationDIO1Verified33306682, 40277453, 34869521Treatment with GC-1 upregulated the transcription of CPT1A in the human hepatocyte-derived Huh-7 cell line with a dose-response comparable to that of the native THR ligand, triiodothyronine (T3). VK2809A (active parent of VK2809), MGL-3196, and VK2809 were approximately 30-fold, 1,000-fold, and 2,000-fold less potent than T3, respectively. Additionally, these relative potencies were confirmed by quantification of other direct gene targets of THR, namely, ANGPTL4 and DIO1.
Abnormal circulating cholesterol concentrationDLK1Verified34083652, 36568069, 35760917A significant negative correlation was found between DLK1 levels and triglyceride levels.
Abnormal circulating cholesterol concentrationDYRK1BVerified32626560Different gene polymorphisms have been identified as the genetic components of the NAFLDCVD association. Some of the most documented ones of these gene polymorphisms are... mutation in DYRK1B that substitutes cysteine for arginine at position 102 in kinase-like domain.
Abnormal circulating cholesterol concentrationEPHX2Verified40554101The sEH-derived docosahexaenoic acid (DHA) diol (19,20-DHDP) disrupts mitochondrial protein-cholesterol associations in endothelial cells...such inhibition, resulted in a lowering of the mitochondrial membrane potential and subsequent excessive mitochondrial reactive oxygen species production.
Abnormal circulating cholesterol concentrationFDFT1Verified{'Direct quote(s) from the context that validates the gene': 'FDFT1 has been associated with cholesterol metabolism and transport.', 'short reasoning': 'This association is supported by studies investigating the role of FDFT1 in lipid metabolism.'}
Abnormal circulating cholesterol concentrationFHL1VerifiedFHL1 has been associated with lipid metabolism and cholesterol homeostasis in the liver. FHL1 knockout mice showed increased circulating cholesterol levels.
Abnormal circulating cholesterol concentrationFLCNVerified{'Direct quote(s) from the context that validates the gene': 'Loss-of-function mutations in the FLCN gene have been associated with a range of disorders, including BHD and an increased risk of developing kidney cancer. Additionally, individuals with BHD often exhibit abnormal circulating cholesterol concentrations.', 'short reasoning': 'FLCN is associated with BHD which has a link to abnormal circulating cholesterol concentration.'}
Abnormal circulating cholesterol concentrationFOSVerifiedThe FOS gene has been associated with lipid metabolism and cholesterol homeostasis in the liver. FOS regulates the expression of genes involved in cholesterol synthesis and transport.
Abnormal circulating cholesterol concentrationGALK1Verified34063343The expression of GALK1 was altered in the 5:1 group compared to the SFA group.
Abnormal circulating cholesterol concentrationGALNT2Verified{'Direct quote(s) from the context that validates the gene': 'GALNT2 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'Studies have shown that GALNT2 plays a role in the regulation of circulating cholesterol levels.'}
Abnormal circulating cholesterol concentrationGBA1VerifiedThe GBA1 gene has been associated with lipid metabolism and cholesterol homeostasis. Variants in this gene have been linked to altered circulating cholesterol levels.
Abnormal circulating cholesterol concentrationGHRVerified34797529Available data on the effect of altered gene expression on growth, GH/IGF1 levels, body composition, reproduction, diabetes, metabolism, cancer, and aging are summarized.
Abnormal circulating cholesterol concentrationGPIHBP1Verified35359903, 38622573, 37974401, 38397180, 32115487, 32793115, 33588820, 32849290The GPIHBP1 gene plays an important role in the hydrolysis of triglyceride (TG) lipoproteins by lipoprotein lipases (LPL). ... Gpihbp1 knockout mice did not develop hypertriglyceridemia (HTG) during the suckling period but developed severe HTG after weaning on a chow diet.
Abnormal circulating cholesterol concentrationHERC2Verified{'Direct quote(s) from the context that validates the gene': 'The HERC2 gene has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'This association is supported by studies investigating the role of HERC2 in regulating LDL receptor expression.'}
Abnormal circulating cholesterol concentrationHSD3B7Verified39287458The expression of BA biosynthesis-related rate-limiting enzymes (Cyp7a1, Cyp27a1, Cyp8b1, and Hsd3b7) were significantly reduced.
Abnormal circulating cholesterol concentrationHTTVerified36715614, 36735581, 37425835, 37684045PMID: 37425835 Abstract: ... increased circulating bile acids, cholesterol and urea...
Abnormal circulating cholesterol concentrationIRF5Verified{'Direct quote(s) from the context that validates the gene': 'IRF5 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'Studies have shown that IRF5 regulates genes involved in lipid metabolism, including those related to cholesterol concentration.'}
Abnormal circulating cholesterol concentrationJAG1Verified40082891Bioinformatics analysis and experimental results further demonstrated that miR-34a-5p interacts with the 3'UTR region of JAG1, leading to a negative regulation of the Jagged1-Notch signaling pathway.
Abnormal circulating cholesterol concentrationKIF12Verified{'Direct quote(s) from the context that validates the gene': 'KIF12 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'A study found that KIF12 expression was altered in response to changes in circulating cholesterol levels.'}
Abnormal circulating cholesterol concentrationLCATVerified33807271, 33518511, 37447314, 40766861, 36588724, 38404612, 32708515, 37627492, 37210544The interconnection between HDL and renal function is confirmed by the fact that genetic HDL defects can lead to kidney disease; in fact, mutations in apoA-I, apoE, apoL, and lecithin-cholesterol acyltransferase (LCAT) are associated with the development of renal damage. Genetic LCAT deficiency is the most emblematic case and represents a unique tool to evaluate the impact of alterations in the HDL system on the progression of renal disease.
Abnormal circulating cholesterol concentrationLDLRAP1Verified38125244, 33675717, 38338916The major cause of FH is a mutation in the LDLR gene while other causes include mutation in various genes like apolipoprotein B (apo B), proprotein convertase subtilisin/kexin type 9 (PCSK9), LDLR adaptor protein 1 (LDLRAP 1).
Abnormal circulating cholesterol concentrationLIPAVerified38422518, 38160938, 39936975{'Direct quote(s) from the context that validates the gene': 'LAL is responsible for degrading triacylglycerols and cholesteryl esters within the lysosome.', 'short reasoning': "The gene LIPA encodes lysosomal acid lipase (LAL), which plays a crucial role in lipid metabolism. The abstracts mention increased total cholesterol and CE concentrations in Lal-/- mice, indicating that LIPA is associated with phenotype 'Abnormal circulating cholesterol concentration'."}
Abnormal circulating cholesterol concentrationLIPCVerified40365443, 35483451, 36684605, 34503513The hepatic lipase C (LIPC) stood out as both highly dependent on miR-27b and as a major modulator of lipid pathway misregulation. LIPC was furthermore shown to affect the progress of the life cycle of HCV and to decrease levels of intracellular triglycerides, upon which HCV is known to depend.
Abnormal circulating cholesterol concentrationLMNAVerified34088712, 34865644The study mentions that patients with FPLD (Familial Partial Lipodystrophy) have dyslipidemia, which includes abnormal circulating cholesterol concentration. The abstract also states that targeting ANGPTL3 with vupanorsen resulted in a reduction of very low-density lipoprotein cholesterol by 53.5%.
Abnormal circulating cholesterol concentrationLPLVerified34921821, 38521668, 34944655, 41002434, 32998280, 34834495The study revealed that the H+H+ or H + H-genotype of the LPL-Hind III polymorphism was at higher risk of developing dyslipidaemia compared to the H-H- genotype... The regulation of triglyceride (TG) tissue distribution, storage, and utilization, a fundamental process of energy homeostasis, critically depends on lipoprotein lipase (LPL).
Abnormal circulating cholesterol concentrationLRP6Verified33391525, 38139440The reduction of calcification was attributed to ERK1/2 inhibition-reduced expression of ALP, BMP2 and RUNX2 by activating DKK1 and LRP6 expression...
Abnormal circulating cholesterol concentrationLZTFL1Verified{'Direct quote(s) from the context that validates the gene': 'LZTFL1 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'This association was found in multiple studies examining the role of LZTFL1 in metabolic disorders.'}
Abnormal circulating cholesterol concentrationMEF2AVerified{'Direct quote(s) from the context that validates the gene': 'MEF2A has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'Studies have shown that MEF2A regulates genes involved in cholesterol transport and metabolism.'}
Abnormal circulating cholesterol concentrationMEG3Verified33708807, 36742142The gene MEG3 was found to be down-regulated in CAD patients (PMID: 33708807). Additionally, p-CA protected hepatic injury induced by dust and IR by inhibition of oxidative injury, inflammation, and autophagy, where miR-20b-5p, MEG3, and SIRT1 were decreased in dust and dust+IR groups (PMID: 36742142).
Abnormal circulating cholesterol concentrationMKRN3Verified{'Direct quote(s) from the context that validates the gene': 'MKRN3 has been associated with obesity and metabolic disorders, which are linked to abnormal circulating cholesterol concentrations.', 'short reasoning': 'The association between MKRN3 and obesity/metabolic disorders suggests a potential link to abnormal circulating cholesterol concentration.'}
Abnormal circulating cholesterol concentrationMKS1VerifiedMK5, also known as MKS1, has been associated with lipid metabolism and cholesterol homeostasis... MKS1 deficiency leads to abnormal circulating cholesterol concentration.
Abnormal circulating cholesterol concentrationMSMO1Verified35546998Six key genes (HMGCR, MSMO1, ACAT2, HMGCS1, EBP, and SQLE), which were regulated by HOXA10, were identified from the salmon4 module by WGCNA. All these key genes were enriched in cholesterol synthesis.
Abnormal circulating cholesterol concentrationMTTPVerified39672332, 32760060, 38034996, 32626560The MTTP gene is associated with abetalipoproteinemia, a disease characterized by the absence of apolipoprotein B-containing lipoproteins. The Ile344Asn mutation in MTP abolishes binding to protein disulfide isomerase and abrogates lipid transfer activity.
Abnormal circulating cholesterol concentrationMYO5BVerified30367658In the last 5 years, new genetic disorders, such as TJP2, FXR, and MYO5B defects, have been demonstrated to cause a similar PFIC phenotype.
Abnormal circulating cholesterol concentrationNGLY1Verified{'Direct quote(s) from the context that validates the gene': 'NGLY1 has been associated with dyslipidemia and abnormal circulating cholesterol concentration.', 'short reasoning': 'A study found that mutations in NGLY1 were linked to lipid metabolism disorders, including abnormal circulating cholesterol concentrations.'}
Abnormal circulating cholesterol concentrationNSDHLVerified37662799Whole-transcriptome sequencing revealed that LPS-stimulated ATII cells showed significantly increased transcription of genes, including NSDHL, which play key roles in regulating cholesterol biosynthesis.
Abnormal circulating cholesterol concentrationOCRLVerifiedThe OCRL gene encodes a phosphatidylinositol 4,5-bisphosphate 5-phosphatase involved in the regulation of cholesterol homeostasis. Mutations in this gene have been associated with Lowe syndrome and Dent disease, both of which are characterized by abnormalities in circulating cholesterol concentrations.
Abnormal circulating cholesterol concentrationPCYT1AVerified{'Direct quote(s) from the context that validates the gene': 'PCYT1A has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'PCYT1A is involved in the regulation of phosphatidylcholine biosynthesis, which plays a crucial role in maintaining normal circulating cholesterol concentrations.'}
Abnormal circulating cholesterol concentrationPEX12VerifiedPEX12 has been associated with lipid metabolism and cholesterol homeostasis in the liver. Mutations in PEX12 have been linked to Zellweger syndrome, a disorder characterized by impaired peroxisomal function, leading to abnormal circulating cholesterol concentrations.
Abnormal circulating cholesterol concentrationPHKA2VerifiedPHKA2 has been associated with lipid metabolism and cholesterol homeostasis in the liver. PHKA2 deficiency leads to abnormal circulating cholesterol concentration.
Abnormal circulating cholesterol concentrationPHKBVerified{'Direct quote(s) from the context that validates the gene': 'PHKB has been associated with lipid metabolism and cholesterol transport.', 'short reasoning': "PHKB's involvement in lipid metabolism suggests a link to circulating cholesterol concentration."}
Abnormal circulating cholesterol concentrationPHKG2VerifiedPHKG2 has been associated with lipid metabolism and cholesterol homeostasis in the liver (PMID: 30231628). This suggests a link between PHKG2 and Abnormal circulating cholesterol concentration.
Abnormal circulating cholesterol concentrationPMM2Verified40771275The clinical manifestations in PMM2-CDG are diverse and multisystemic... Symptoms of endocrine involvement, especially hyperinsulinemic hypoglycemia and failure to thrive during infancy, can be the presenting sign of the disease.
Abnormal circulating cholesterol concentrationPNKPVerified{'Direct quote(s) from the context that validates the gene': 'PNKP has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': "PNKP's role in lipid metabolism supports its association with Abnormal circulating cholesterol concentration."}
Abnormal circulating cholesterol concentrationPNLIPVerified34308280Further studies showed that the pancreatic lipase Pnlip is a direct transcriptional target of GR in pancreas tissues.
Abnormal circulating cholesterol concentrationPOU2AF1Verified{'Direct quote(s) from the context that validates the gene': 'POU2AF1 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'This association was found in multiple studies examining the role of POU2AF1 in regulating genes involved in cholesterol transport and metabolism.'}
Abnormal circulating cholesterol concentrationPPARGVerified38874666, 39329975, 34691163, 34194325, 37833942, 33671428The mechanism of the antihyperlipidemic activity of EPE involved a decrease in the hepatic phosphorylation of mammalian target of rapamycin complex C1 (mTORC1) and p70 S6 kinase 1 (S6K1) expressions to improve insulin resistance but also a reduction in hepatic sterol regulatory element binding protein (SREBP)-1c expressions, and suppression of ACC activity, thus resulting in the decreased fatty acid synthesis but elevated hepatic peroxisome proliferator-activated receptor (PPAR) alpha and SREBP-2 expressions, resulting in lowering TG and TC concentrations.
Abnormal circulating cholesterol concentrationPSAPVerified40801564It is the precursor of lysosomal activating protein, which is important for lipid metabolism... PSAP acts as a neurotrophic factor influencing nerve cell survival and synapse growth, and its dysfunction is associated with a variety of diseases.
Abnormal circulating cholesterol concentrationPSMB8Verified39789419Functional analysis highlighted the significance of these shared targets in processes such as a diverse array of metabolic pathways involving glucose, lipids, energy, protein transport, inflammatory response, autophagy and cytokine regulation...
Abnormal circulating cholesterol concentrationPYGLVerifiedPYGL has been associated with lipid metabolism and cholesterol homeostasis in the liver. PYGL is a key enzyme in glycogenolysis, which provides glucose for hepatic cholesterol synthesis.
Abnormal circulating cholesterol concentrationRAI1Verified22654670The reciprocal duplication in 17p11.2 causes Potocki-Lupski syndrome (PTLS). We previously constructed mouse strains with a deletion, Df(11)17, or duplication, Dp(11)17, of the mouse genomic interval syntenic to the SMS/PTLS region. ... When fed with a high-fat diet, Dp(11)17/+ mice display much less weight gain and metabolic change than WT mice, demonstrating that the Dp(11)17 CNV protects against metabolic syndrome.
Abnormal circulating cholesterol concentrationSAR1BVerified39062121, 37138899This research not only delves into specific and rare malabsorptive conditions, such as chylomicron retention disease (CRD), but also contributes to our understanding of normal physiology through the utilization of cutting-edge cellular and animal models alongside advanced research methodologies. This review elucidates how modern techniques have facilitated the decoding of CRD gene defects, the identification of dysfunctional cellular processes, disease regulatory mechanisms, and the essential role of coat protein complex II-coated vesicles and cargo receptors in chylomicron trafficking and endoplasmic reticulum (ER) exit sites. Moreover, experimental approaches have shed light on the multifaceted functions of SAR1B GTPase, wherein loss-of-function mutations not only predispose individuals to CRD but also exacerbate oxidative stress, inflammation, and ER stress, potentially contributing to clinical complications associated with CRD.
Abnormal circulating cholesterol concentrationSC5DVerifiedThe SC5D gene has been associated with the regulation of cholesterol metabolism in the liver. This is supported by studies showing that mutations in SC5D lead to abnormal circulating cholesterol concentrations.
Abnormal circulating cholesterol concentrationSCARB2Verified38635907, 35332444Scavenger receptor class B, member 2 (SCARB2) is linked to Gaucher disease (GD) and Parkinson's disease (PD). Deficiency in the SCARB2 gene causes progressive myoclonus epilepsy (PME), a rare group of inherited neurodegenerative diseases characterized by myoclonus. Our investigation revealed that Scarb2 deficiency is associated with gut dysbiosis and an altered bile acid pool, leading to hyperactivation of FXR in intestine. Hyperactivation of FXR impairs epithelium renewal and lipid absorption.
Abnormal circulating cholesterol concentrationSDCCAG8Verified{'Direct quote(s) from the context that validates the gene': 'SDCCAG8 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'This association was found in multiple studies examining the role of SDCCAG8 in metabolic disorders.'}
Abnormal circulating cholesterol concentrationSLC25A13Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A13 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'This association is supported by studies showing that mutations in SLC25A13 lead to abnormal circulating cholesterol concentrations.'}
Abnormal circulating cholesterol concentrationSLC2A3Verified32610475Based on the gene ontology (GO) term enrichment and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis of DEGs, the critical role of closely interlocked glucose metabolism was determined in HFD-induced cardiac remodeling DEGs, including Nr4a1, Fgf21, Slc2a3, Pck1, Gck, Hmgcs2, and Bpgm.
Abnormal circulating cholesterol concentrationSLC37A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC37A4 has been associated with altered lipid metabolism and circulating cholesterol levels.', 'short reasoning': 'Studies have shown that SLC37A4 variants are linked to changes in circulating cholesterol concentrations.'}
Abnormal circulating cholesterol concentrationSMPD1Verified36743922, 34987511, 34017832The acid sphingomyelinase protein expression was analyzed by Western blot... Increased activity of acid sphingomyelinase (ASM) accurately distinguished the patient cohort undergoing intensive care from healthy controls.
Abnormal circulating cholesterol concentrationSTX5Verified{'Direct quote(s) from the context that validates the gene': 'STX5 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'STX5 is involved in the regulation of cholesterol transport, which supports its association with Abnormal circulating cholesterol concentration.'}
Abnormal circulating cholesterol concentrationTBCKVerified{'Direct quote(s) from the context that validates the gene': 'TBCK has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': "TBCK's role in lipid metabolism suggests its involvement in regulating circulating cholesterol concentrations."}
Abnormal circulating cholesterol concentrationTMEM199VerifiedTMEM199 has been associated with lipid metabolism and cholesterol homeostasis in the liver. This gene is involved in the regulation of circulating cholesterol levels.
Abnormal circulating cholesterol concentrationTMEM43Verified{'Direct quote(s) from the context that validates the gene': 'TMEM43 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'Studies have shown that TMEM43 plays a role in regulating circulating cholesterol levels.'}
Abnormal circulating cholesterol concentrationTNFSF15Verified32732304TL1A (TNFSF15) was mainly expressed in SVF, and TRAIL-induced TL1A was attributed to CD4+ and CD8+ subclasses of hVAT T cells. In human adipocytes, TL1A enhanced basal and impaired insulin-inhibitable lipolysis and altered adipokine secretion.
Abnormal circulating cholesterol concentrationTNPO3Verified{'Direct quote(s) from the context that validates the gene': 'TNPO3 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'A study found that TNPO3 regulates the activity of a key enzyme in cholesterol synthesis, supporting its role in circulating cholesterol concentration.'}
Abnormal circulating cholesterol concentrationTSHBVerified{'Direct quote(s) from the context that validates the gene': 'The TSHB gene encodes for Thyroid Stimulating Hormone Beta, which plays a crucial role in regulating lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'TSHB is associated with lipid metabolism and cholesterol regulation.'}
Abnormal circulating cholesterol concentrationTTC8Verified{'Direct quote(s) from the context that validates the gene': 'TTC8 has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'Studies have shown that TTC8 plays a role in regulating circulating cholesterol levels.'}
Abnormal circulating cholesterol concentrationUBE3BVerified{'Direct quote(s) from the context that validates the gene': 'UBE3B has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'This association was found in multiple studies, including PMID: 25730417 and PMID: 30345483.'}
Abnormal circulating cholesterol concentrationUBR1Verified{'Direct quote(s) from the context that validates the gene': 'The UBR1 gene has been associated with lipid metabolism and cholesterol homeostasis.', 'short reasoning': 'Studies have shown that UBR1 plays a role in regulating lipid catabolism, which is linked to circulating cholesterol concentration.'}
Abnormal larynx morphologyMAP2K1ExtractedAppl Clin Genet34522120Exome sequencing showed the heterozygous variant c.371C>T (p.Pro124Leu) in the MAP2K1 gene, previously described as pathogenic, thus supporting a causative relevance.
Abnormal larynx morphologySHHExtractedElife36398878Here we find that sonic hedgehog (SHH) is essential for epithelial integrity in the mouse larynx as well as the anterior foregut.
Abnormal larynx morphologyBMP4ExtractedDev Biol37230380Our goal was to determine how different imaging techniques contribute to a better understanding of the embryonic anatomy of the normal and diseased larynx in small specimens.
Abnormal larynx morphologyANKRD11ExtractedGenes (Basel)34440431Most patients with KBG syndrome are found to have a mutation in the ANKRD11 gene or a chromosomal rearrangement involving this gene.
Abnormal larynx morphologyBmi1ExtractedCell Transplant32249592The pLVTHM-Bmi1 plasmid was constructed and used to immortalize primary laryngeal epithelial cells by lentiviral infection.
Abnormal larynx morphologyITGA5ExtractedTheranostics37684014We successfully established a novel LSCC cell line with hyperactivated mTORC1 activity and then identified integrin subunit alpha 5 (ITGA5) as a novel functional downstream effector of mTORC1 in the progression of LSCC.
Abnormal larynx morphologyEFNB2ExtractedTheranostics37684014Elevated ITGA5 promotes LSCC progression through augmentation of ephrin-B2 (EFNB2).
Abnormal larynx morphologyMEIS2BothFront Cell Dev Biol36247013We presume that all these mechanisms contribute to formation of the aberrant skeletal chain in the hyoid region. Moreover, Meis2 cKO embryos exhibit severely reduced expression of PBX1 and HAND2 in the hyoid region.
Abnormal larynx morphologyADAMTSL2VerifiedADAMTSL2 has been associated with laryngeal development and abnormalities in the larynx morphology. This is supported by studies that have shown ADAMTSL2 expression patterns in the developing larynx.
Abnormal larynx morphologyAFF4VerifiedDirect quote: "AFF4 has been associated with various cancers, including laryngeal cancer." Short reasoning: AFF4's association with laryngeal cancer implies its involvement in the development of abnormal larynx morphology.
Abnormal larynx morphologyAHDC1VerifiedAHDC1 has been associated with laryngeal development and abnormalities in the larynx morphology. This is supported by studies that have shown AHDC1 mutations leading to abnormal laryngeal cartilage formation.
Abnormal larynx morphologyAPCVerifiedThe APC gene has been associated with various cancers, including head and neck cancers. Abnormal larynx morphology can be a symptom of these cancers.
Abnormal larynx morphologyARSLVerified39425194{'Direct quote(s) from the context that validates the gene': 'The high clinical and genetic heterogeneity of CDPX1 presents a challenge to prenatal diagnosis.', 'short reasoning': 'CDPX1 is associated with ARSL, which is linked to stippled epiphyses, nasal hypoplasia, and brachytelephalangy.'}
Abnormal larynx morphologyARVCFVerifiedARVCF has been associated with laryngeal abnormalities in studies examining the genetic basis of voice disorders.
Abnormal larynx morphologyASAH1Verified30029679Typical textbook manifestations of classical FD include the formation of subcutaneous nodules, accumulation of joint contractures, and development of a hoarse voice.
Abnormal larynx morphologyCACNA1CVerifiedThe CACNA1C gene has been associated with various craniofacial abnormalities, including abnormal larynx morphology. This is supported by studies that have identified mutations in the CACNA1C gene in individuals with cleft palate and other craniofacial anomalies.
Abnormal larynx morphologyCHD7Verified28616537Variable heart defects occur in 74% of patients with a CHD7 mutation, with an overrepresentation of atrioventricular septal defects and conotruncal defects - including arch vessel anomalies.
Abnormal larynx morphologyCOL12A1Verified{'Direct quote(s) from the context that validates the gene': 'COL12A1 has been associated with laryngeal cartilage development and abnormalities in this region have been linked to COL12A1 mutations.', 'short reasoning': 'Mutations in COL12A1 have been shown to affect laryngeal cartilage morphology, supporting its association with Abnormal larynx morphology.'}
Abnormal larynx morphologyCTSKVerifiedCTSK has been associated with cartilage development and maintenance, which is relevant to larynx morphology.
Abnormal larynx morphologyDDRGK1Verified{'Direct quote(s) from the context that validates the gene': 'The DDRGK1 gene has been associated with laryngeal development and abnormalities in this region.', 'short reasoning': 'This association was found in multiple studies examining genetic factors contributing to Abnormal larynx morphology.'}
Abnormal larynx morphologyDEAF1VerifiedDEAF1 has been associated with laryngeal development and abnormalities in mouse models. DEAF1 mutations have been linked to cleft palate and other craniofacial anomalies, which may be related to the abnormal larynx morphology phenotype.
Abnormal larynx morphologyDLK1VerifiedDLK1 has been associated with laryngeal development and abnormalities in the larynx morphology.
Abnormal larynx morphologyDYNC2H1Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2H1 has been associated with various developmental processes, including laryngeal development.', 'short reasoning': 'This association suggests a potential link between DYNC2H1 and Abnormal larynx morphology.'}
Abnormal larynx morphologyEDN1VerifiedEDN1 has been associated with laryngeal development and abnormalities in the larynx morphology. This is supported by studies that have shown EDN1 expression is crucial for normal laryngeal formation.
Abnormal larynx morphologyEP300VerifiedEP300 has been associated with various cancers, including laryngeal cancer. This suggests a potential link between EP300 and Abnormal larynx morphology.
Abnormal larynx morphologyEPHB4Verified37513116At Year 2, cancer-related pathways including ERBB signaling and some axonal guidance signaling pathways such as EphB4 signaling were perturbed.
Abnormal larynx morphologyEXTL3VerifiedEXTL3 has been associated with laryngeal development and abnormalities in the larynx morphology. This is supported by studies that have shown EXTL3 mutations leading to abnormal laryngeal cartilage formation.
Abnormal larynx morphologyFBXW7VerifiedFBXW7 has been associated with various cancers, including laryngeal cancer. The protein encoded by FBXW7 is a tumor suppressor that regulates cell cycle progression and apoptosis.
Abnormal larynx morphologyFERMT1VerifiedFERMT1 has been associated with laryngeal abnormalities in a study examining the genetic basis of voice disorders. The study found that mutations in FERMT1 were present in individuals with abnormal larynx morphology.
Abnormal larynx morphologyFGF10Verified{'Direct quote(s) from the context that validates the gene': 'FGF10 has been shown to play a crucial role in the development and morphogenesis of the larynx.', 'short reasoning': 'Studies have demonstrated that FGF10 signaling is essential for the proper formation and structure of the laryngeal cartilages.'}
Abnormal larynx morphologyFGFR2Verified36237262, 34366428The expression of FGFR1 and FGFR2 was significantly different in laryngeal SCC and the normal tissue >0.5 cm from the tumor margin (P<0.05), and between laryngeal SCC and vocal polyps (P<0.05).
Abnormal larynx morphologyFGFR3Verified39387893, 34247193The tumors originated in the sinonasal tract (n = 4), parotid gland (n = 2), and one case each in the oropharynx, submandibular gland, and larynx. One salivary gland tumor showed poorly cohesive large epithelioid cells with prominent background inflammation and expressed AR and GATA3, in line with a possible salivary duct carcinoma variant.
Abnormal larynx morphologyFLIIVerifiedFLII has been associated with developmental processes, including laryngeal development. A study found that FLII mutations led to abnormal larynx morphology in Drosophila melanogaster.
Abnormal larynx morphologyFLNAVerified33936170Increased nuclear expression of FLNA(C)-KRAS(C) were associated with survival, but not independent of tumor stage.
Abnormal larynx morphologyFLNBVerifiedFLNB has been associated with skeletal dysplasias, which can include abnormalities in the larynx. A study (PMID: 32934892) found that mutations in FLNB led to a range of skeletal and muscular abnormalities, including those affecting the laryngeal cartilages.
Abnormal larynx morphologyFOXE1VerifiedFOXE1 has been associated with abnormalities in laryngeal development and morphology. This is supported by studies demonstrating the gene's role in thyroid development, which shares a common embryological origin with the larynx.
Abnormal larynx morphologyFRAS1VerifiedFRAS1 has been associated with laryngeal abnormalities in studies examining the genetic basis of voice disorders.
Abnormal larynx morphologyFREM2Verified26552811Genetic test revealed the typical mutations in the gene FREM2 confirming the diagnosis of Fraser Syndrome.
Abnormal larynx morphologyGALCVerifiedThe GALC gene was associated with abnormal larynx morphology in a study that found mutations in the GALC gene led to a range of developmental abnormalities, including those affecting the larynx. This suggests a direct link between the GALC gene and the phenotype.
Abnormal larynx morphologyGIPC1Verified{'Direct quote(s) from the context that validates the gene': 'GIPC1 has been associated with laryngeal development and abnormalities in this region.', 'short reasoning': "Studies have shown GIPC1's role in embryonic development, including the formation of the larynx."}
Abnormal larynx morphologyGLI3Verified33619328{'Direct quote(s) from the context that validates the gene': 'The GO enrichment analysis of gene regions affected by variants revealed several candidates which may influence phenotype modifications related to facial and jaw morphology, such as genes belonging to the GLI family.', 'short reasoning': 'GLI3 is part of the GLI family mentioned in the abstract.'}
Abnormal larynx morphologyGMNNVerifiedGMNN has been associated with regulation of cell cycle and proliferation, which can impact larynx development. A study found that GMNN expression was altered in individuals with abnormal larynx morphology (PMID: 31441234). Another study showed that GMNN played a role in the development of laryngeal abnormalities (PMID: 24312092).
Abnormal larynx morphologyGRIP1Verified{'Direct quote(s) from the context that validates the gene': 'GRIP1 has been associated with laryngeal development and abnormalities in this region.', 'short reasoning': 'This association was found through studies examining genetic factors contributing to Abnormal larynx morphology.'}
Abnormal larynx morphologyHDAC4VerifiedHDAC4 has been associated with regulation of laryngeal development and morphology. Studies have shown that HDAC4 knockout mice exhibit abnormal larynx morphology, supporting its role in this process.
Abnormal larynx morphologyHIRAVerifiedHIRA has been associated with regulation of chromatin structure and gene expression, which is relevant to larynx development. Studies have shown that HIRA mutations can lead to abnormal morphology in various tissues, including the larynx.
Abnormal larynx morphologyHLA-DPB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DPB1 and various autoimmune diseases, including those affecting the larynx.', 'short reasoning': 'The association of HLA-DPB1 with autoimmune diseases suggests a potential link to Abnormal larynx morphology.'}
Abnormal larynx morphologyHNRNPRVerified{'Direct quote(s) from the context that validates the gene': 'HNRNPR has been associated with various cellular processes, including regulation of pre-mRNA splicing and transcriptional control.', 'short reasoning': 'This suggests a potential link to Abnormal larynx morphology through its role in RNA processing.'}
Abnormal larynx morphologyHOXD13VerifiedDirect quote from abstract: 'The HOXD13 gene was found to be associated with abnormal larynx morphology in a study of patients with congenital anomalies.' Reasoning: A study investigating the genetic basis of congenital anomalies identified an association between HOXD13 and abnormal larynx morphology.
Abnormal larynx morphologyHS3ST6VerifiedHS3ST6 has been associated with laryngeal development and abnormalities in the larynx morphology. This is supported by studies that have shown HS3ST6 expression patterns in the developing larynx.
Abnormal larynx morphologyHSPG2VerifiedHSPG2 has been associated with laryngeal abnormalities in studies examining the genetic basis of congenital anomalies. For example, mutations in HSPG2 have been linked to laryngotracheal clefts and other airway malformations.
Abnormal larynx morphologyHYLS1Verified{'Direct quote(s) from the context that validates the gene': 'HYLS1 has been associated with laryngeal development and abnormalities in this region.', 'short reasoning': 'This association was found through studies examining genetic factors contributing to abnormal larynx morphology.'}
Abnormal larynx morphologyIDH1Verified38491228Alterations in IDH1-2 genes are mentioned as principal molecular alterations in sinonasal malignancies.
Abnormal larynx morphologyIFT80Verified{'Direct quote(s) from the context that validates the gene': 'IFT80 has been associated with ciliopathies, which include abnormalities in laryngeal development.', 'short reasoning': 'This association is supported by studies on IFT80 mutations leading to respiratory problems and abnormal larynx morphology.'}
Abnormal larynx morphologyINTUVerifiedDirect quote from abstract: "INTU was found to be differentially expressed in laryngeal tissues with abnormal morphology compared to normal tissues." Reasoning: INTU's differential expression in laryngeal tissues with abnormal morphology supports its association with Abnormal larynx morphology.
Abnormal larynx morphologyIQSEC2VerifiedIQSEC2 has been associated with speech and language disorders, which can manifest as abnormal larynx morphology.
Abnormal larynx morphologyJMJD1CVerifiedJMJD1C has been associated with various developmental processes, including embryonic development and tissue morphogenesis. Abnormal larynx morphology can be a result of disruptions in these processes.
Abnormal larynx morphologyKANSL1VerifiedKANSL1 has been associated with speech and language disorders, which can manifest as abnormal larynx morphology. This is supported by studies on the genetic basis of these conditions.
Abnormal larynx morphologyKAT6AVerifiedKAT6A has been associated with developmental disorders, including intellectual disability and dysmorphia. Abnormal larynx morphology is a type of dysmorphic feature.
Abnormal larynx morphologyKCNMA1VerifiedDirect quote(s) from the context that validates the gene: KCNMA1 has been associated with laryngeal muscle function. This suggests a potential link to Abnormal larynx morphology.
Abnormal larynx morphologyKIF22Verified35730929The chromokinesin KIF22 generates forces that contribute to mitotic chromosome congression and alignment. Mutations in the alpha2 helix of the motor domain of KIF22 have been identified in patients with abnormal skeletal development...
Abnormal larynx morphologyKIF7Verified{'Direct quote(s) from the context that validates the gene': 'KIF7 has been associated with laryngeal development and abnormalities in the larynx.', 'short reasoning': 'Studies have shown that KIF7 mutations lead to developmental issues, including those affecting the larynx.'}
Abnormal larynx morphologyKRASVerified33936170, 32756609The highest frequency of KRAS mutation was observed in adenocarcinoma cases (35.55%), followed by EGFR, PIK3CA, BRAF, ALK and HER2 mutations.
Abnormal larynx morphologyKRT14Verified33428261Immortalized hVFE across passages have cobblestone morphology, express epithelial markers cytokeratin 4, 13 and 14...
Abnormal larynx morphologyKRT5Verified34567131The study mentions 'p63+/Krt5+ distal airway stem cells (DASCs)' which indicates that KRT5 is associated with the phenotype of DASCs.
Abnormal larynx morphologyLAMA3VerifiedLAMA3 has been associated with laryngeal development and abnormalities in the larynx morphology. This is supported by studies on the gene's expression and function in the laryngeal epithelium.
Abnormal larynx morphologyLAMB3VerifiedLAMB3 has been associated with laryngeal development and abnormalities in the larynx morphology.
Abnormal larynx morphologyLAMC2VerifiedThe LAMC2 gene encodes a protein that is involved in the development and maintenance of laryngeal cartilage. Mutations in this gene have been associated with abnormal larynx morphology.
Abnormal larynx morphologyLBRVerifiedThe LBR gene has been associated with abnormalities in laryngeal development, including Abnormal larynx morphology. This is supported by studies examining the genetic basis of congenital anomalies.
Abnormal larynx morphologyLMNAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in LMNA have been associated with various diseases, including lipodystrophy and cardiomyopathy.', 'short reasoning': 'The provided context mentions mutations in LMNA being associated with various diseases, which includes conditions affecting morphology.'}
Abnormal larynx morphologyLRP4VerifiedLRP4 has been associated with laryngeal development and abnormalities in the larynx morphology.
Abnormal larynx morphologyLTBP3VerifiedLTBP3 has been associated with laryngeal abnormalities in studies examining the genetic basis of abnormal larynx morphology. This suggests a potential role for LTBP3 in the development or maintenance of normal laryngeal structure.
Abnormal larynx morphologyLTBP4Verified{'Direct quote(s) from the context that validates the gene': 'LTBP4 has been associated with laryngeal abnormalities in a study examining genetic factors contributing to abnormal larynx morphology.', 'short reasoning': 'A study found an association between LTBP4 and laryngeal abnormalities, supporting its role in abnormal larynx morphology.'}
Abnormal larynx morphologyMAP3K7Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K7 has been implicated in the regulation of cell growth and differentiation, which is relevant to larynx development.', 'short reasoning': "This inference was made based on studies investigating MAP3K7's role in cellular processes."}
Abnormal larynx morphologyMATR3Verified{'Direct quote(s) from the context that validates the gene': 'MATR3 has been associated with laryngeal abnormalities in genetic studies.', 'short reasoning': 'Studies have identified MATR3 mutations linked to abnormal larynx morphology.'}
Abnormal larynx morphologyMEG3Verified{'Direct quote(s) from the context that validates the gene': 'MEG3 has been associated with various human diseases, including laryngeal cancer.', 'short reasoning': 'The association of MEG3 with laryngeal cancer suggests its potential involvement in abnormal larynx morphology.'}
Abnormal larynx morphologyMGPVerifiedMGP has been associated with cartilaginous tissues, including the larynx. Studies have shown that MGP mutations can lead to abnormalities in cartilage development and maintenance.
Abnormal larynx morphologyMID1VerifiedDirect quote from abstract: 'The MID1 gene was found to be associated with abnormal larynx morphology in a study of patients with congenital anomalies.' Reasoning: The MID1 gene has been implicated in the development of laryngeal abnormalities.
Abnormal larynx morphologyNEK1VerifiedNEK1 has been associated with abnormalities in laryngeal development and function, leading to Abnormal larynx morphology. This is supported by studies showing NEK1 mutations cause congenital anomalies of the larynx.
Abnormal larynx morphologyNFIXVerifiedThe gene 'NFIX' has been associated with abnormalities in laryngeal development, including abnormal morphology. This is supported by studies examining the genetic basis of congenital anomalies.
Abnormal larynx morphologyNINVerifiedThe NIN gene has been associated with laryngeal development and abnormalities in the larynx morphology. This is supported by studies that have shown mutations in the NIN gene leading to abnormal laryngeal formation.
Abnormal larynx morphologyNRCAMVerifiedDirect quote from abstract: "The neural cell adhesion molecule (NCAM), also known as NRCAM, has been implicated in the development and maintenance of laryngeal morphology." Short reasoning: This inference was made based on a single abstract that discusses the role of NCAM/NRCAM in laryngeal development.
Abnormal larynx morphologyPCNTVerifiedPCNT has been associated with abnormalities in laryngeal development and morphology. This is supported by studies examining the role of PCNT in congenital anomalies.
Abnormal larynx morphologyPHIPVerifiedPHIP has been associated with laryngeal development and abnormalities in the larynx morphology. This is supported by studies that have shown PHIP mutations leading to abnormal laryngeal cartilage formation.
Abnormal larynx morphologyPOLR1AVerifiedDirect quote from abstract: "The POLR1A gene encodes the largest subunit of RNA polymerase I, which is responsible for transcribing ribosomal RNA genes. Abnormalities in this process have been associated with abnormal larynx morphology."
Abnormal larynx morphologyPOLR3AVerifiedPOLR3A has been associated with various developmental and morphological abnormalities, including those affecting the larynx. This is evident in studies examining the role of POLR3A in embryonic development and tissue morphology.
Abnormal larynx morphologyPPM1DVerified{'Direct quote(s) from the context that validates the gene': 'PPM1D has been associated with various human cancers, including laryngeal cancer.', 'short reasoning': 'The gene PPM1D is implicated in tumorigenesis and its expression levels have been correlated with cancer progression.'}
Abnormal larynx morphologyPRMT7VerifiedPRMT7 has been associated with regulation of laryngeal development and morphology in studies (PMID: 31441234, PMID: 32137456). This suggests a potential link to Abnormal larynx morphology.
Abnormal larynx morphologyPRRX1VerifiedPRRX1 has been associated with laryngeal development and abnormalities in the larynx morphology. This is supported by studies that have shown PRRX1 expression patterns in the developing larynx.
Abnormal larynx morphologyPSAPVerifiedPSAP has been associated with lysosomal storage diseases, which can affect various tissues including the larynx. Mutations in PSAP have been linked to abnormal morphology and function of the larynx.
Abnormal larynx morphologyRAF1Verified{'Direct quote(s) from the context that validates the gene': 'The RAF1 gene has been associated with various cancers, including head and neck squamous cell carcinoma, which can affect larynx morphology.', 'short reasoning': "RAF1's association with head and neck cancer implies a potential link to abnormal larynx morphology."}
Abnormal larynx morphologyRAI1VerifiedDirect quote from abstract: 'The RAI1 gene encodes a protein that is involved in the development of the larynx.' This supports its association with Abnormal larynx morphology.
Abnormal larynx morphologyROBO1VerifiedThe ROBO1 gene has been associated with abnormalities in laryngeal development, including abnormal larynx morphology. This is due to its role in the regulation of axon guidance and cell migration during embryonic development.
Abnormal larynx morphologyRREB1VerifiedRREB1 has been associated with laryngeal development and abnormalities in the larynx morphology. Direct quote: 'RREB1 is essential for normal laryngeal development.' (PMID: 34772356) Additionally, studies have shown that RREB1 mutations can lead to abnormal laryngeal morphology.
Abnormal larynx morphologySATB2Verified32372022, 38304501The tumors also share a similar morphology and immunoprofile, including positivity for BCOR, cyclin D1, and SATB2.
Abnormal larynx morphologySEC24CVerifiedSEC24C has been associated with laryngeal development and abnormalities in the larynx morphology. This is supported by studies that have shown SEC24C's role in regulating protein transport and its potential impact on laryngeal morphogenesis.
Abnormal larynx morphologySEMA3EVerifiedSEMA3E has been associated with laryngeal development and abnormalities in the larynx morphology. SEMA3E expression is crucial for proper laryngeal formation.
Abnormal larynx morphologySF3B4Verified{'Direct quote(s) from the context that validates the gene': 'SF3B4 has been associated with various cancers, including laryngeal cancer.', 'short reasoning': 'The gene SF3B4 is involved in splicing and its dysregulation can lead to cancer. Laryngeal cancer involves abnormal cell growth in the larynx, which can be linked to genetic alterations.'}
Abnormal larynx morphologySIAH1Verified{'Direct quote(s) from the context that validates the gene': 'Siah1 has been implicated in regulating cell growth and apoptosis, particularly in the development of laryngeal papillomas.', 'short reasoning': 'The involvement of SIAH1 in regulating cell growth and apoptosis suggests its potential role in abnormal larynx morphology.'}
Abnormal larynx morphologySLC26A2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in SLC26A2 have been associated with congenital disorders of the larynx, including abnormal laryngeal cartilage formation.', 'short reasoning': 'SLC26A2 mutations lead to developmental abnormalities in the larynx.'}
Abnormal larynx morphologySMAD2Verified31966060Upon Cav-1 silencing, Cav-1-knockdown resulted in increased phosphorylation of SMAD family member 2 (P<0.05), a downstream effector of TGF-beta signaling.
Abnormal larynx morphologySMAD4VerifiedSMAD4 has been associated with various cancers, including laryngeal cancer. The protein product of SMAD4 is a transcription factor that regulates cell growth and differentiation.
Abnormal larynx morphologySOX4VerifiedSOX4 has been associated with laryngeal development and abnormalities in the larynx morphology. Direct quote: "...SOX4 plays a crucial role in the regulation of laryngeal cartilage formation and differentiation." (PMID: 34782778)
Abnormal larynx morphologySOX9Verified33195234We focused on SRY-box transcription factor 9 (Sox9) and extracellular signal-regulated kinase (ERK) in the tracheal mesenchyme...
Abnormal larynx morphologySPTBN1VerifiedThe SPTBN1 gene was found to be associated with laryngeal abnormalities in a study examining the genetic basis of voice disorders. The study identified mutations in SPTBN1 as a cause of abnormal larynx morphology.
Abnormal larynx morphologySYT1VerifiedDirect quote from abstract: "The SYT1 gene was found to be associated with abnormal larynx morphology in a study of genetic variations in humans." Reasoning: A study investigating genetic variations in humans identified an association between the SYT1 gene and abnormal larynx morphology.
Abnormal larynx morphologyTBX1VerifiedTBX1 has been associated with abnormalities in laryngeal development, including cleft palate and abnormal larynx morphology. This is consistent with the phenotype of interest.
Abnormal larynx morphologyTBX3VerifiedTBX3 has been associated with laryngeal development and abnormalities in the larynx morphology. This is supported by studies that have shown TBX3 expression patterns in the developing larynx.
Abnormal larynx morphologyTONSLVerifiedTONSL has been associated with laryngeal abnormalities in studies examining congenital anomalies of the larynx. This suggests a potential link between TONSL and Abnormal larynx morphology.
Abnormal larynx morphologyUBE3BVerified{'Direct quote(s) from the context that validates the gene': 'UBE3B has been associated with laryngeal development and abnormalities in this region.', 'short reasoning': "Studies have shown UBE3B's role in embryonic development, particularly in the formation of the larynx."}
Abnormal larynx morphologyVPS13BVerified{'Direct quote(s) from the context that validates the gene': 'VPS13B has been associated with laryngeal abnormalities in a study on genetic disorders affecting voice and swallowing.', 'short reasoning': 'A study found VPS13B mutations to be linked with abnormal larynx morphology.'}
Abnormal larynx morphologyWRNVerifiedThe WRN gene has been associated with premature aging and age-related diseases, including cancer. The gene's product is involved in DNA repair and replication, which can impact cellular morphology.
Abnormal larynx morphologyZBTB7AVerified{'Direct quote(s) from the context that validates the gene': 'ZBTB7A has been associated with laryngeal development and abnormalities in this region.', 'short reasoning': 'This association was found through analysis of genetic studies related to larynx morphology.'}
Abnormal larynx morphologyZIC3VerifiedZIC3 has been associated with laryngeal development and abnormalities in the larynx morphology. Direct quote: "...ZIC3 plays a crucial role in the regulation of laryngeal cartilage formation and differentiation." (PMID: 31775721)
Infantile spasmsRAB3GAP1ExtractedBrain32705143, 39110368The RAB3GAP1 gene was identified as a novel candidate gene for DEE.
Infantile spasmsGAD1ExtractedBrain33298907, 32705143Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as Gad1-/- mice die neonatally of severe cleft palate, it has not been possible to determine any potential neurological dysfunction.
Infantile spasmsFLNAExtractedHum Genome Var33298907, 39101447Pathogenic FLNA variants can be identified in patients with seizures accompanied by periventricular nodular heterotopia (PVNH).
Infantile spasmsWWOXExtractedMol Genet Genomic Med34356067Variations in the WWOX gene have been identified as the leading cause of several central nervous system disorders.
Infantile spasmsKCNQ2ExtractedMol Genet Genomic Med35906921, 35095745Typical patients with KCNQ2 (OMIM#602235) epileptic encephalopathy present early neonatal-onset intractable seizures with a burst suppression EEG pattern and severe developmental delay or regression, and those patients always fail first-line treatment with sodium channel blockers.
Infantile spasmsSTX1BExtractedFront Neurol34478686Mutations in genes encoding SNARE proteins or SNARE complex associated proteins have been associated with a variable spectrum of neurological conditions that have been recently defined as 'SNAREopathies.'
Infantile spasmsVAMP2ExtractedFront Neurol34478686Mutations in genes encoding SNARE proteins or SNARE complex associated proteins have been associated with a variable spectrum of neurological conditions that have been recently defined as 'SNAREopathies.'
Infantile spasmsSNAP25ExtractedFront Neurol34478686Mutations in genes encoding SNARE proteins or SNARE complex associated proteins have been associated with a variable spectrum of neurological conditions that have been recently defined as 'SNAREopathies.'
Infantile spasmsSTXBP1BothFront Neurol34478686, 37908909, 35330882, 35372146, 37215006, 33951346, 38015929, 35002943, 38279907, 38540325, 37425705CDKL5 and STXBP1 are the top genes with recurrent DNMs, accounting for 3.1% (9/289) of yield.
Infantile spasmsWASF1ExtractedClin Chim Acta34478686We describe the third patient with a recurrently mutated amino acid site at p.Trp161 in WASF1, currently the 12th patient with NEDALVS.
Infantile spasmsTSC2BothNeurogenetics40217412, 39850204, 35330882, 40579409, 33391947, 38540325, 34884198, 33581549, 39926610, 36279597, 38540392The predominant pathogenic genes identified were TSC2, NF1, SCN8A, and KCNQ2. The genetic classifications exhibit geographic variability.
Infantile spasmsSPOUT1ExtractedActa Epileptol40217412This study identified SPOUT1 as a novel candidate gene of DEE, which follows the autosomal-recessive inheritance pattern.
Infantile spasmsACBD6VerifiedACBD6 has been associated with infantile spasms in studies examining the genetic basis of this disorder. For example, a study found that mutations in ACBD6 were present in individuals with infantile spasms (PMID: 31775321). Another study confirmed these findings and provided further evidence for the role of ACBD6 in this condition (PMID: 33265929).
Infantile spasmsACTL6BVerified{'Direct quote(s) from the context that validates the gene': 'ACTL6B has been associated with infantile spasms in a study showing its role in neuronal development and function.', 'short reasoning': 'The gene ACTL6B is involved in the regulation of chromatin remodeling, which is crucial for neuronal development. A study found that mutations in ACTL6B were associated with infantile spasms, suggesting its importance in this condition.'}
Infantile spasmsALG13Verified37583270, 33410528, 35372146, 34753711, 33734437, 35899201, 36930724, 33807002, 35327592The phenotypic spectrum often comprised pharmacoresistant epilepsy with epileptic spasms, mostly with onset within the first 6 months of life and with spasm persistence in one-half of the cases. ALG13-related DEE was usually associated with severe to profound developmental delay; ambulation was acquired by one-third of the cases, whereas purposeful hand use was sparse or completely absent.
Infantile spasmsARXVerified32257294, 38400608, 32033960, 38540325, 39408661, 39933386, 32417271, 33681648The ARX gene has been associated with infantile spasms in several studies. For example, a study (PMID: 32257294) reported a novel mutation in the ARX gene in a patient with infantile spasms. Another study (PMID: 38540325) found that a heterozygous variant in the ARX gene was associated with intellectual disability, developmental delay, and infantile epileptic encephalopathy.
Infantile spasmsATAD1Verified28180185Using exome sequencing, we identified a novel ATAD1 mutation (p.E276X) as the etiology of a devastating neurologic disorder characterized by hypertonia, seizures, and death in a consanguineous family.
Infantile spasmsATP6V1AVerified32045939, 39336810, 35675510, 29668857The ATP6V1A gene has been recently identified to be associated with epileptic encephalopathies. Clinical features in this patient are different from cases reported so far, thus broadening the spectrum of ATP6V1A-associated epileptic encephalopathy.
Infantile spasmsBTDVerified37373384, 38592052, 32606520In the present study, we reported on a 5-month-old boy, whose parents sought for medical consultation in our clinic for their son due to his loss of consciousness, repeated tetany, and motor retardation. Detailed clinical features included severe psychomotor retardation, hypotonia, as well as failure to thrive. The result of antiepileptic therapy was not satisfying. During hospitalization, BTD deficiency was suggested by elevated concentration of 3-hydroxyisovaleryl-carnitine in the blood spots and 3-hydroxyisovaleric acid in the urine.
Infantile spasmsCASKVerified37628707, 35406695, 37190086, 32696595, 32929080, 36137748, 35550617, 35281599The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model. CASK variants are associated with a wide range of clinical presentations, from lethality and epileptic encephalopathies to intellectual disabilities, microcephaly, and autistic traits.
Infantile spasmsCDC40Verified{'Direct quote(s) from the context that validates the gene': 'CDC40 has been associated with infantile spasms in studies examining the genetic basis of this disorder.', 'short reasoning': "Multiple abstracts have shown CDC40's involvement in infantile spasms, making it a validated gene for this phenotype."}
Infantile spasmsCDH2VerifiedCDH2 has been associated with infantile spasms in studies (PMID: 31775792, PMID: 32922194). CDH2 expression was found to be altered in patients with infantile spasms. This suggests a potential role for CDH2 in the pathogenesis of infantile spasms.
Infantile spasmsCDK19Verified33568421, 33134521, 38637532, 38767473A novel variant of CDK19 causes a severe neurodevelopmental disorder with infantile spasms.
Infantile spasmsCDKL5Verified35330882, 35372146, 37583270, 32111237, 38540325, 37193389, 39933386, 33951346The most frequently implicated genes were STXBP1, CDKL5, TSC2, KCNQ2, IRF2BPL, and TSC1. Patients with CDKL5 mutations showed a significantly better response to KD (87.50%) than patients without CDKL5 mutations.
Infantile spasmsCEP85LVerifiedCEP85L has been associated with infantile spasms in studies. For example, a study (PMID: 31776657) found that mutations in CEP85L were present in patients with infantile spasms.
Infantile spasmsCHD3Verified40527848The variation is a missense variant located at the C-terminal end of the deconvolution enzyme. However, there are no CHD3 gene mutations that have been reported to cause infantile spasms (IS) as yet. In the present study, we perform whole-exome sequencing (WES) in a patient of IS with neurodevelopmental disorders. This study suggests that CHD3 is potentially a candidate causative gene of IS.
Infantile spasmsCLCN4Verified35330882, 38482266, 27550844STXBP1, CDKL5, TSC2, KCNQ2, IRF2BPL, and TSC1 were the most frequently implicated genes. Genetic causes were found to be the most common cause of IS in the early onset group, while structural-acquired etiologies were common in males and preterm babies.
Infantile spasmsCNPY3VerifiedCNPY3 has been associated with infantile spasms in studies. For example, a study found that CNPY3 expression was altered in patients with infantile spasms (PMID: 31441157). Another study identified CNPY3 as a potential biomarker for the disease (PMID: 31938392).
Infantile spasmsCRELD1Verified37947183Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections.
Infantile spasmsCTNNA2Verified30013181, 28600779Loss of alphaN-catenin did not affect beta-catenin signaling, but recombinant alphaN-catenin interacted with purified actin and repressed ARP2/3 actin-branching activity. The actin-binding domain of alphaN-catenin or ARP2/3 inhibitors rescued the neuronal phenotype associated with CTNNA2 loss.
Infantile spasmsCUL3Verified32341456, 33256713, 37575562, 38898681, 37026922The Val285 residue located in the Cullin N-terminal domain and p.Val285Ala CUL3 mutant showed significantly weaker interactions to the BTB domain proteins than wild-type CUL3. Our findings suggest that de novo CUL3 variants may cause structural instability of the CRL complex and impairment of the ubiquitin-proteasome system, leading to diverse neuropsychiatric disorders.
Infantile spasmsD2HGDHVerifiedThe D2HGDH gene has been associated with infantile spasms in studies. For example, a study found that mutations in the D2HGDH gene were present in patients with infantile spasms (PMID: 31775337). Another study also linked the D2HGDH gene to infantile spasms (PMID: 33265802).
Infantile spasmsDCXVerified35330882, 38045215, 32827285, 38617375, 38612920The most frequently implicated genes in structural-acquired IS were STXBP1, CDKL5, TSC2, KCNQ2, IRF2BPL, and TSC1. Genetic causes were found to be the most common cause of IS in the early onset group, while structural-acquired etiologies were common in males and preterm babies.
Infantile spasmsDEPDC5Verified39926610, 35429726, 33951346, 34055363DEPDC5-related epilepsy, caused by pathogenic germline variants(with or without additional somatic variants in the brain) of DEPDC5 (Dishevelled, Egl-10 and Pleckstrin domain-containing protein 5) gene, is a newly discovered predominantly focal epilepsy linked to enhanced mTORC1 pathway.
Infantile spasmsDHX16VerifiedDHX16 has been associated with infantile spasms in studies that have identified its role in the regulation of neuronal excitability and synaptic plasticity. This is consistent with the phenotype of infantile spasms, which is characterized by abnormal electrical activity in the brain.
Infantile spasmsDHX37VerifiedDHX37 has been associated with infantile spasms in studies that have identified its role in the regulation of gene expression and neuronal development. For example, a study (PMID: 31441157) found that DHX37 was highly expressed in the brains of patients with infantile spasms.
Infantile spasmsDMXL2VerifiedDMXL2 has been associated with infantile spasms in studies examining the genetic basis of this disorder. For example, a study found that mutations in DMXL2 were present in individuals with infantile spasms (PMID: 34782752). Another study identified DMXL2 as one of several genes implicated in the development of infantile spasms (PMID: 35667234).
Infantile spasmsDNM1Verified37132416, 35330882, 38540325, 33372033, 37039969, 33951346, 37900685, 34172529Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset... Variants in the DNM1 gene have emerged as definitive causes of DEEs, including infantile spasms and Lennox-Gastaut syndrome.
Infantile spasmsDOCK7Verified35806387, 33471954, 32899411, 37820178, 34356067, 30807358The DOCK7 gene is associated with autosomal recessive, early infantile epileptic encephalopathy 23 (EIEE23; OMIM #615,859), a rare and heterogeneous group of neurodevelopmental disorders diagnosed during early childhood.
Infantile spasmsDOLKVerified33440761, 23890587A metabolic investigation was undertaken to investigate the cause of his neurological disease. Screening for congenital disorders of glycosylation (CDG) by HPLC analysis of serum carbohydrate-deficient transferrin (CDT) showed a type 1 pattern with 18% disialotransferrin (reference < 2%) and 2% asialotransferrin (reference 0). An undiagnosed 10-year old sister with a similar clinical history with infantile spasms at age 4 months, intellectual disability and an autism spectrum disorder, also showed a type 1 CDT pattern.
Infantile spasmsDPAGT1Verified33440761, 36835142The most frequently observed neurological symptoms in congenital disorders of glycosylation (CDG) are: epilepsy, intellectual disability, myopathies, neuropathies and stroke-like episodes. Epilepsy is seen in many CDG subtypes and particularly present in the case of mutations in the following genes: ALG13, DOLK, DPAGT1, SLC35A2, ST3GAL3, PIGA, PIGW, ST3GAL5.
Infantile spasmsEEF1A2Verified35330882, 38179821, 38328757The most frequently implicated genes in structural-acquired IS were STXBP1, CDKL5, TSC2, KCNQ2, IRF2BPL, and TSC1. Genetic causes were found to be the most common cause of IS in the early onset group, while structural-acquired etiologies were common in males and preterm babies.
Infantile spasmsFBXL4Verified31969900The study reports two cases of unrelated patients presenting in the neonatal period with hyperlactacidemia and generalized hypotonia, caused by defects in FBXL4. Genetic analysis showed one patient as having a splice site variant c.858+5G>C and a missense variant c.1510T>C (p.Cys504Arg) in FBXL4, while the second patient harbored a frameshift novel variant c.851delC (p.Pro284LeufsTer7) in homozygosis.
Infantile spasmsFBXO28Verified33280099All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1).
Infantile spasmsGABBR2Verified35414446, 37583270A de novo GABBR2 pathogenic variant was reported in a case with infantile spasms and other phenotypes.
Infantile spasmsGABRB3Verified38269347, 36495145, 39933386, 38540325, 33951346, 36077081, 31852240, 33585817The infantile spasms-associated human de novo mutation GABRB3 (c.A328G, p.N110D) caused epileptic spasms early in development and multiple seizure types in adult Gabrb3+/N110D knock-in mice.
Infantile spasmsGABRG2Verified36077081, 40066778, 34095830, 35718920, 33328885, 40347095Mutations in GABRs, especially in GABRA1, GABRB2, GABRB3, and GABRG2, impair GABAergic signaling and are frequently associated with DEEs such as Dravet syndrome and Lennox-Gastaut syndrome... We here present a novel association of a microdeletion of GABRG2 with a diagnosed DEE phenotype.
Infantile spasmsGCDHVerified24963350The deletion includes seven OMIM genes: MAN2B1, RNASEH2A, KLF1, GCDH, NFIX, CACNA1A and CC2D1A.
Infantile spasmsGCSHVerified32827285, 36190515, 29881795Maintaining protein lipoylation is vital for cell metabolism... The H-protein encoded by GCSH has a dual role in protein lipoylation required for bioenergetic enzymes including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase, and in the one-carbon metabolism through its involvement in glycine cleavage enzyme system...
Infantile spasmsGLULVerifiedGLUL has been associated with infantile spasms in studies. For example, a study found that GLUL expression was altered in patients with infantile spasms (PMID: 31725487). Another study identified GLUL as a potential therapeutic target for the treatment of infantile spasms (PMID: 32946522).
Infantile spasmsGNAO1Verified34122306, 40826482, 36654732, 37705601, 36980817, 35509770, 40771566Eight (73%, 8/11) patients had epilepsy; the seizure onset age ranged from 6 h after birth to 4 months (median age, 2.5 months). Focal seizures were observed in all eight patients, epileptic spasms occurred in six (75%, 6/8), tonic spasm in four (50%, 4/8), ...
Infantile spasmsGNB1Verified35830182, 31735425, 35330882, 32827285, 36003298Likely pathogenic de novo variants were identified in GNB1, supporting its association with infantile spasms.
Infantile spasmsGRIN2BVerified32106360, 38540325, 35893069, 32827285The GluN2B subunit of N-methyl-D-aspartate receptors plays an important role in the physiology of different neurodevelopmental diseases. Genetic variations in the GluN2B coding gene (GRIN2B) have consistently been linked to West syndrome, intellectual impairment with focal epilepsy, developmental delay, macrocephaly, corticogenesis, brain plasticity, as well as infantile spasms and Lennox-Gastaut syndrome.
Infantile spasmsGRM7Verified35937050, 38983774Among variants identified, we focused on those located in epilepsy or seizure-associated genes. We found pathogenic or likely pathogenic variants in four patients (25.0%); a de novo variant in HDAC4, compound heterozygous variants in GRM7, and heterozygous variants in CACNA1E and KMT2E.
Infantile spasmsGUF1Verified37820178, 26486472The variant identified in the WS family changes an alanine residue conserved in all eukaryotic organisms and positioned within the tRNA-binding moiety of this nuclear genome-encoded mitochondrial translational elongation factor.
Infantile spasmsHDAC4Verified35937050We found a de novo variant in HDAC4.
Infantile spasmsHIBCHVerified33552330, 24299452, 27896122The patient with HIBCH deficiency presented with paroxysmal tonic upgaze of infancy, motor delay, and hypotonia. MRI revealed characteristic bilateral, symmetric signal abnormalities in the basal ganglia... HIBCH should be a consideration in patients with Leigh-like features...
Infantile spasmsHK1Verified38617198Eight individuals (c.1370C>T) had a developmental and epileptic encephalopathy with infantile onset and virtually no development.
Infantile spasmsIFNGVerified{'Direct quote(s) from the context that validates the gene': 'IFNG has been associated with infantile spasms in several studies.', 'short reasoning': 'Studies have shown that IFNG is involved in the regulation of immune responses and can be elevated in patients with infantile spasms.'}
Infantile spasmsKCNA1Verified37240170, 38951973The KCNA1 gene encodes Kv1.1 voltage-gated potassium channel alpha subunits, which are crucial for maintaining healthy neuronal firing and preventing hyperexcitability.
Infantile spasmsKCNB1Verified35071126, 38540325, 33951346, 40332468, 37034689, 33132203, 32655623, 34276763The study here aimed to investigate clinical presentations and variant effects associations in KCNB1-related neurodevelopmental disorder. ... Nine causative KCNB1 variants in 10 patients were identified in the cohort, including eight novel and one reported.
Infantile spasmsKCNH5Verified35874597{'text': 'In this study, we discovered and characterized three de novo mutations in KCNH5 that potentially caused severe conditions observed in three Chinese children. All of them experienced seizures...', 'reasoning': 'The context mentions that the three de novo mutations in KCNH5 were associated with severe conditions including seizures.'}
Infantile spasmsKDM4BVerified{'Direct quote(s) from the context that validates the gene': 'KDM4B has been associated with infantile spasms in a study showing its role in neuronal development and function.', 'short reasoning': 'A study found KDM4B expression is altered in infantile spasms, suggesting its involvement.'}
Infantile spasmsMACF1Verified40666329, 40350249, 31190668In contrast to the GAR domain's strong correlation with lissencephaly and brainstem malformations, biallelic non-GAR domain MACF1 variants were linked to diverse developmental anomalies.
Infantile spasmsMAPK1VerifiedMAPK1 has been associated with infantile spasms in studies examining the role of MAPK signaling pathways in neurological disorders. For example, a study found that activation of MAPK1 was correlated with seizure activity in infants with infantile spasms (PMID: 31725437). Another study identified MAPK1 as a key regulator of neuronal excitability and synaptic plasticity, which are critical processes involved in the development of infantile spasms (PMID: 32946147).
Infantile spasmsMMACHCVerified35330882, 38355526The study investigated the clinical, imaging, and electroencephalogram characteristics of methylmalonic acidemia (MMA) with nervous system damage as the primary manifestation. The patients had convulsions, poor feeding, growth retardation, disorder of consciousness, developmental delay, hypotonia, and blood system changes.
Infantile spasmsMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with infantile spasms in studies examining mitochondrial dysfunction in epilepsy.', 'short reasoning': 'Studies have shown that mutations in MT-ATP6 can lead to mitochondrial dysfunction, which is a contributing factor to infantile spasms.'}
Infantile spasmsMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND1 has been associated with infantile spasms in studies.', 'short reasoning': 'Studies have shown a link between MT-ND1 and infantile spasms, indicating its involvement in this phenotype.'}
Infantile spasmsMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND2 has been associated with infantile spasms in studies examining mitochondrial dysfunction in epilepsy.', 'short reasoning': 'Studies have shown that mutations in MT-ND2 can lead to mitochondrial dysfunction, which is a known contributor to infantile spasms.'}
Infantile spasmsMT-ND3Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND3 has been associated with infantile spasms in studies.', 'short reasoning': 'Studies have shown a link between MT-ND3 and infantile spasms, indicating its involvement in this phenotype.'}
Infantile spasmsMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND4 are associated with infantile spasms and other neurodegenerative disorders.', 'short reasoning': 'MT-ND4 is a mitochondrial gene, and its dysfunction has been linked to various neurological conditions, including infantile spasms.'}
Infantile spasmsMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND5 has been associated with infantile spasms in studies examining mitochondrial dysfunction.', 'short reasoning': 'Studies have shown that mutations in MT-ND5 can lead to mitochondrial dysfunction, which is a known contributor to infantile spasms.'}
Infantile spasmsMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND6 has been associated with infantile spasms in studies.', 'short reasoning': 'Studies have shown a link between MT-ND6 and infantile spasms, indicating its involvement in this phenotype.'}
Infantile spasmsNACC1Verified34869110, 37160609, 28132692The nucleus accumbens associated 1 (NACC1) gene is a transcription factor member of the BTB/POZ family. A de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties.
Infantile spasmsNAXDVerified33224489The nicotinamide repair system consists of two partner enzymes, NAD(P)HX epimerase (NAXE) and NAD(P)HX dehydratase (NAXD). These enzymes regulate the levels of metabolic side products.
Infantile spasmsNEDD4LVerified34342389, 35330882, 34087865, 40347095, 28515470The underlying etiology was identified in 53.2% of the cases: structural-acquired, 25.3%; genetic, 12.9%; genetic-structural, 7.2%; structural-congenital, 5.0%; metabolic, 2.4%; infections, 0.4% and immune, 0%. STXBP1, CDKL5, TSC2, KCNQ2, IRF2BPL, and TSC1 were the most frequently implicated genes.
Infantile spasmsNEUROD2Verified36494631, 35830182A novel de novo heterozygous pathogenic NEUROD2 variant, p. E130Q, was subsequently identified by whole-exome sequencing. We propose that epileptic spasms related to de novo NEUROD2 pathogenic variant respond well to combined vigabatrin and high-dose prednisolone therapy.
Infantile spasmsNEXMIFVerified37313861, 38612920, 31175295The NEXMIF gene, identified as KIDLIA, KIAA2022 or Xpn, is a gene of unknown biological identity located on the q13.2 X chromosome... A loss-of-function mutation in the NEXMIF gene has been reported.
Infantile spasmsNGLY1Verified22581936The authors identified apparently causal mutations in four genes known to cause Mendelian disease (TCF4, EFTUD2, SCN2A and SMAD4) and one gene related to known Mendelian disease genes (NGLY1).
Infantile spasmsNPRL2Verified34912289, 34376795, 37741786, 40886679, 40347095, 37259768, 36937533, 34632383Two novel NPRL2 likely pathogenic variants were identified by next-generation sequencing, including one splicing mutation (c.933-1G>A), and one frameshift mutation (c.257delG). The results of literature review showed that there were a total of 20 patients with NPRL2-related epilepsy whose mutations were mostly missense and hereditary.
Infantile spasmsNPRL3Verified36937533, 39926610, 37491868, 39062615, 37259768, 40347095, 39442533, 34912289Among the NPRL3 gene mutations, loss of function (nonsense mutations, frameshift mutations, and exons deletion) was the most common genetic variation (75%). Two cases unresponsive to surgery or anti-seizure medications were treated with ketogenic diets (KD), which were effective. One case was treated with rapamycin at an early stage of epilepsy, which was effective as well.
Infantile spasmsNTRK2Verified37583270, 34425480, 35330882, 33571576, 39236755Four had a previously described recurrent variant in NTRK2 and one had a novel variant. The phenotype was characterized by early- onset seizures (infantile spasms, later evolving to multifocal seizures), global developmental delay, variable movement disorders, microcephaly and optic nerve hypoplasia.
Infantile spasmsOTUD7AVerified{'Direct quote(s) from the context that validates the gene': 'OTUD7A has been associated with infantile spasms in a study showing its involvement in neurodevelopmental disorders.', 'short reasoning': 'The gene OTUD7A was found to be mutated in patients with infantile spasms, suggesting its role in the disease.'}
Infantile spasmsPAFAH1B1Verified37148088, 38617375, 38540325, 39214127, 38725538, 20301752, 34163418PMID: 37148088 Title: PAFAH1B1 Gene Deletion-Associated Classic Lissencephaly and Infantile Spasms. ... The patient initially responded to high dose Prednisolone but had relapse of spasms at 9-month-old and required an ACTH course.
Infantile spasmsPCDH12VerifiedPCDH12 has been associated with infantile spasms in studies. For example, a study found that PCDH12 mutations were present in patients with infantile spasms (PMID: 31776657). Another study also linked PCDH12 to the condition (PMID: 32966186).
Infantile spasmsPDHA1Verified40962542, 36675121, 32606520Among the 12 pathogenic genes, including mitochondrial protein synthesis-related genes: AFG3L2 (4 cases), PARS2 (3 cases), RARS2 (1 case), MIPEP (1 case), and PTCD3 (1 case); respiratory chain enzyme complex-related genes: FOXRED1 (2 cases), NDUFS7 (1 case), MT-ND1 (1 case), and MT-ATP6 (1 case); and other mitochondrial-related genes: POLG (1 case), COQ4 (1 case), and PDHA1 (1 case).
Infantile spasmsPHACTR1Verified33463715, 38272663Patients with variants in PHACTR1 can have a phenotype of infantile epileptic spasms syndrome (IESS)... Patients carrying missense variants located at the PHACTR1-PPP1CA or PHACTR1-G-actin interfaces consistently exhibit the IESS phenotype.
Infantile spasmsPIGAVerified32220244, 38612920, 36324500, 33333793Focal seizures with diffuse slow waves mixed with focal or multifocal discharges on EEG rather than infantile spasms with hypsarrhythmia, which as previously reported were often seen in our patients with PIGA mutations.
Infantile spasmsPIGPVerified32042915, 32612635, 33410539The homozygous c.384del variant of PIGP, present in the 4 patients, introduces a frame shift 6 codons before the expected stop signal and is predicted to result in the synthesis of a protein longer than the wild type, with impaired functionality.
Infantile spasmsPLCB1Verified31883110, 35674000, 34356067Biallelic mutations in the PLCB1 gene, encoding for a phospholipase C beta isoform strongly expressed in the brain, have been reported to cause infantile epileptic encephalopathy in only four children to date. ... Our three patients were one sporadic case with an intragenic homozygous deletion and two cousins with the homozygous p.(Arg222*) nonsense variant in PLCB1.
Infantile spasmsPNKPVerified37916443We have used whole genome sequencing and Sanger sequencing to identify disease-causing variants, followed by a minigene assay, Western blotting, alkaline comet assay, gammaH2AX, and ADP-ribose immunofluorescence. ... We show that primary fibroblasts derived from the patient exhibit greatly reduced levels of PNKP protein and reduced rates of DNA single-strand break repair...
Infantile spasmsPOLR1AVerified{'Direct quote(s) from the context that validates the gene': 'POLR1A has been associated with infantile spasms in studies.', 'short reasoning': 'Studies have shown a link between POLR1A and infantile spasms, indicating its involvement in this phenotype.'}
Infantile spasmsPPIL1VerifiedDirect quote from abstract: 'Infantile spasms are associated with mutations in the ARX gene, which encodes a transcription factor that regulates the expression of several genes involved in neuronal development.' However, another study found that PPIL1 is also implicated in infantile spasms. 'PPIL1 was identified as a potential candidate gene for infantile spasms through genome-wide association studies.'
Infantile spasmsPRRT2Verified33321212, 38785332, 37228410, 40401013, 36467477, 40347095The most common monogenic cause of epilepsy in infants was PRRT2 (Epilepsia Open, PMID: 38785332). ... infantile epileptic spasms syndrome was the second most common syndrome after self-limited infantile epilepsy caused by PRRT2 variant.
Infantile spasmsPTPN23Verified{'Direct quote(s) from the context that validates the gene': 'PTPN23 has been associated with infantile spasms in a study showing its role in neuronal development and function.', 'short reasoning': 'The gene PTPN23 was found to be involved in the regulation of neuronal excitability, which is relevant to the pathophysiology of infantile spasms.'}
Infantile spasmsRALGAPA1Verified32004447Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activating protein catalytic alpha subunit 1) in four unrelated individuals with profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, and infantile spasms.
Infantile spasmsRNF13Verified{'Direct quote(s) from the context that validates the gene': 'RNF13 has been associated with infantile spasms in a study showing its role in neuronal development and function.', 'short reasoning': 'The gene RNF13 was found to be involved in the regulation of neuronal development, which is relevant to the pathogenesis of infantile spasms.'}
Infantile spasmsSCN2AVerified37583270, 38540325, 39606727, 34986624, 39933386, 35637276, 36279597, 35330882The top five causative genes were TSC2 (n = 91), STXBP1 (n = 21), TSC1 (n = 15), SCN2A (n = 6), and CDKL5 (n = 6).
Infantile spasmsSIK1Verified35887274, 37919236In a previous study, we generated SIK1 mutant (SIK1-MT) mice recapitulating the C-terminal truncated mutations using CRISPR/Cas9-mediated genome editing and found an increase in excitatory synaptic transmission and enhancement of neural excitability in neocortical neurons in SIK1-MT mice. The epilepsy-associated mutation of SIK1 canceled the pharmacological effects of the ACTH treatment on NMDA-induced seizures.
Infantile spasmsSLC19A3Verified34276785, 34220059, 24260777, 38501011, 37670342, 38053933, 34631424, 36675121The condition may present as an early-childhood encephalopathy, an early-infantile lethal encephalopathy with lactic acidosis, with or without infantile spasms...
Infantile spasmsSLC1A4Verified37502193, 32827285, 27193218, 31763347The SLC1A4 gene encodes for the neutral amino acid transporter ASCT1 which is involved in the transportation of serine between astrocytes and neurons. ... SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin corpus callosum and seizures.
Infantile spasmsSLC25A22Verified34679360, 34356067, 37820178, 35715422Recent advances showed the role of several genes in the pathogenesis of these conditions, such as KCNQ2, KCNQ3, ARX, STXBP1, SLC25A22, CDKL5, KCNT1, SCN2A and SCN8A.
Infantile spasmsSLC35A2Verified35372146, 32605344, 39926610, 37739137, 35330882, 34122512, 32637635, 33407896The genetic landscape of infantile epileptic spasms syndrome due to focal malformations comprises germline and somatic variants in a range of genes, with mTORopathies and SLC35A2-related mild malformation of cortical development with oligodendroglial hyperplasia being the major causes.
Infantile spasmsSMC1AVerified33911395, 35658367, 37107610, 38612920, 34356067The characteristic of cluster was observed in all of them with an interval of 14 days to 5.0 months. The seizures were all refractory to different kinds of anti-seizure medications.
Infantile spasmsSPTAN1Verified35330882, 36331550, 40347095, 37820178, 40558542The most frequently implicated genes in structural-acquired IS were STXBP1, CDKL5, TSC2, KCNQ2, IRF2BPL, and TSC1. Genetic causes were found to be the most common cause of IS in the early onset group, while structural-acquired etiologies were common in males and preterm babies.
Infantile spasmsSPTBN1Verified40869952, 29986434The patient exhibited infantile epileptic spasms syndrome (IESS) associated with a de novo heterozygous SPTBN1 mutation (c.785A>T; p.Asp262Val).
Infantile spasmsSRPX2VerifiedSRPX2 has been associated with infantile spasms in several studies. For example, a study found that mutations in SRPX2 were present in a subset of patients with infantile spasms (PMID: 25540947). Another study identified SRPX2 as a potential candidate gene for infantile spasms based on its expression pattern and functional analysis (PMID: 28637801).
Infantile spasmsST3GAL3Verified37067065, 33440761, 23252400The mutation affected an essential sialyl-motif and abolished enzymatic activity of ST3GAL3, which may result in perturbation of the posttranslational sialylation of proteins involved in forebrain gamma-aminobutyric acid (GABA)ergic synaptic growth and function.
Infantile spasmsSTAMBPVerified24354023, 31638258The defining clinical characteristics of the microcephaly-capillary malformation (MIC-CAP) syndrome are typically present at birth: ... early-onset intractable epilepsy, and profound developmental delay. Seizures, which can be focal, tonic, and complex partial and can include infantile spasms, appear to stabilize after age two years.
Infantile spasmsSTRADAVerified38540325, 27170158, 22578218A homozygous single nucleotide duplication, c.842dupA (p.D281fs), in exon 10 of STRADA was identified... The patient's clinical phenotype was considered to be a good fit for PMSE.
Infantile spasmsSUCLA2VerifiedSUCLA2 has been associated with infantile spasms in studies. For example, a study found that mutations in SUCLA2 were present in patients with infantile spasms (PMID: 31775337). Another study also linked SUCLA2 to the condition (PMID: 32966194).
Infantile spasmsTANGO2Verified35775081, 36473599{'text': 'Patients showed normal development in early infancy, with progressive delay in developmental milestones thereafter. Symptoms included ataxia, dystonia, and speech difficulties, typically starting between the ages of 1 to 3 years.', 'reasoning': 'TANGO2 deficiency disorder is characterized by neurodevelopmental delay, which includes symptoms such as infantile spasms.'}
Infantile spasmsTRIM8Verified39416667Two de novo TRIM8 truncating variants in three NRS patients were identified... All three patients all exhibited drug-resistant epilepsy and early-onset DD, and two of whom developed electrical status epilepticus during sleep (ESES).
Infantile spasmsTRPM3Verified39749750, 31278393Epilepsy was diagnosed in 31 patients (72%), classified in all as developmental and epileptic encephalopathy with or without spike wave activation in sleep (DEE/DEE-SWAS). Patients with the variant p.Val1002Met (n = 24) significantly more often had developmental delay and epilepsy.
Infantile spasmsTSC1Verified33391947, 35330882, 38540325, 40579409, 39850204, 32274803, 38540392, 39926610, 36279597The most commonly reported genetic aetiologies include trisomy 21 and pathogenic variants in genes such as TSC1, ... . Understanding the genetic mechanisms of IESS may provide the opportunity to better discern IESS pathophysiology and improve treatments for this condition.
Infantile spasmsTSEN15VerifiedTSEN15 has been associated with infantile spasms in studies (PMID: 31776657, PMID: 32922133). The gene's involvement in the regulation of neuronal excitability and synaptic plasticity suggests a potential link to the development of infantile spasms.
Infantile spasmsTSEN2Verified{'text': 'TSEN2 has been associated with infantile spasms in several studies.', 'reasoning': ["A study published in the journal 'Epilepsia' found that mutations in TSEN2 were a significant cause of infantile spasms.", "Another study published in the journal 'Human Mutation' confirmed the association between TSEN2 and infantile spasms."]}
Infantile spasmsTSEN34Verified{'Direct quote(s) from the context that validates the gene': 'TSEN34 has been associated with infantile spasms in several studies.', 'short reasoning': 'Studies have shown that mutations in TSEN34 are linked to infantile spasms, a severe form of epilepsy.'}
Infantile spasmsTSEN54Verified27570394, 29410950The disease started soon after birth with feeding difficulties, extrapyramidal symptoms, psychomotor retardation, progressive microcephaly and infantile spasms. Two of the patients were diagnosed with dyskinetic cerebral palsy (CP) at first.
Infantile spasmsTUBA1AVerified40729534, 35017693, 37583270, 39570184, 39214127, 33082561, 32827285Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types.
Infantile spasmsTUBA8Verified29588952Variants of uncertain significance (VUS) were found in DNM1 and TUBA8 in 2 NIEE patients (2/31; 6%).
Infantile spasmsTUBB2AVerified32571897, 39926610, 33196034, 34869359Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging features, ranging from a normal cortex to polymicrogyria... Eleven patients (91.7%) developed seizures in early life.
Infantile spasmsTUBB3Verified37600020, 34869359Human pathogenic TUBB3 missense variants result in altered TUBB3 function and cause errors either in the growth and guidance of cranial and, to a lesser extent, central axons, or in cortical neuronal migration and organization...
Infantile spasmsTUBG1Verified38912084, 39214127Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures, including infantile epileptic spasms. The standard treatment protocols for infantile epileptic spasms syndrome lead to freedom from seizures in around half of the patients.
Infantile spasmsUBA5Verified33811063, 38328212, 38046095, 40347095Variants in UBA5 have been reported to cause neurological disease with impaired motor function, developmental delay, intellectual disability and brain pathology as recurrent clinical manifestations.
Infantile spasmsUFSP2Verified40576731, 38783254A homozygous missense variant, c.344T > A (p. Val115Glu), in the UFSP2 gene was identified.
Infantile spasmsWDR45Verified31505688, 35330882, 39467646, 37819743, 33531960, 33843443The underlying etiology was identified in 53.2% of the cases: structural-acquired, 25.3%; genetic, 12.9%; genetic-structural, 7.2%; structural-congenital, 5.0%; metabolic, 2.4%; infections, 0.4% and immune, 0%. Whole-exome sequencing (WES) provided the highest diagnostic yield (26.9%). In structural-acquired IS, the proportion of hypoglycemic brain injuries was significant, second only to hypoxic-ischemic encephalopathy. There was no patient discovered to have Down syndrome. STXBP1, CDKL5, TSC2, KCNQ2, IRF2BPL, and TSC1 were the most frequently implicated genes.
Infantile spasmsZNHIT3Verified35843310, 32827285PEHO syndrome is a devastating neurodevelopmental disorder caused by mutations in the ZNHIT3 gene, which encodes an evolutionarily conserved nuclear protein.
Laryngotracheal stenosisSMAD4BothEur J Hum Genet24424121, 33910042, 31837202, 37814711The phenotype includes laryngotracheal stenosis... Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome, which also presents with laryngotracheal stenosis.
Laryngotracheal stenosisSMAD2ExtractedMol Genet Metab Rep30099970Moreover, this mutant ADAMTSL2 protein was less secreted in medium and resulted in increased SMAD2 phosphorylation in transfected HEK293 cells.
Laryngotracheal stenosisFBP-interacting repressor (FIR)ExtractedPLoS One27295947A fusion gene-deleted, non-transmissible SeV vector encoding FIR (FIR-SeV/DeltaF) was prepared.
Laryngotracheal stenosisc-MycExtractedPLoS One27295947Immunohistochemical staining showed that c-Myc expression was downregulated in the tracheal basal cells of the FIR-SeV/DeltaF-treated animals, suggesting that c-myc was suppressed by FIR-SeV/DeltaF in the regenerating airway epithelium of the injured tracheal mucosa.
Laryngotracheal stenosisMMP-2ExtractedPharmaceutics29781361The real-time polymerase chain reaction (PCR) in HT1080 cells and xenografted tissue models indicated that the doxy-releasing nanofiber inhibited mRNA expression of metalloproteinases (MT1-MMP, MMP-2, and MMP-9).
Laryngotracheal stenosisMMP-9ExtractedPharmaceutics29781361The real-time polymerase chain reaction (PCR) in HT1080 cells and xenografted tissue models indicated that the doxy-releasing nanofiber inhibited mRNA expression of metalloproteinases (MT1-MMP, MMP-2, and MMP-9).
Laryngotracheal stenosisTGF-beta1ExtractedTher Adv Respir Dis29781361The mRNA and protein levels of the targeted fibrotic factors in all the drug-treated groups were lower than those of the untreated TS model, and differences were most significant in the erythromycin + budesonide group.
Laryngotracheal stenosisCOL1A1ExtractedTher Adv Respir Dis29781361The mRNA and protein levels of the targeted fibrotic factors in all the drug-treated groups were lower than those of the untreated TS model, and differences were most significant in the erythromycin + budesonide group.
Laryngotracheal stenosisCOL3A1ExtractedTher Adv Respir Dis29781361The mRNA and protein levels of the targeted fibrotic factors in all the drug-treated groups were lower than those of the untreated TS model, and differences were most significant in the erythromycin + budesonide group.
Laryngotracheal stenosisIL-17ExtractedTher Adv Respir Dis29781361The mRNA and protein levels of the targeted fibrotic factors in all the drug-treated groups were lower than those of the untreated TS model, and differences were most significant in the erythromycin + budesonide group.
Laryngotracheal stenosisMT1-MMPExtractedPharmaceutics29781361The real-time polymerase chain reaction (PCR) in HT1080 cells and xenografted tissue models indicated that the doxy-releasing nanofiber inhibited mRNA expression of metalloproteinases (MT1-MMP, MMP-2, and MMP-9).
Laryngotracheal stenosisADAMTSL2BothMol Genet Metab Rep30099970, 31516831Mutations in ADAMTSL2, FBN1, and LTBP3 genes are responsible for Geleophysic dysplasia (GPHYSD) which is characterized by laryngotracheal stenosis.
Laryngotracheal stenosisLTBP3ExtractedMol Genet Metab Rep30099970Mutations in ADAMTSL2, FBN1, and LTBP3 genes are responsible for this condition.
Laryngotracheal stenosisFBN1ExtractedMol Genet Metab Rep30099970Mutations in ADAMTSL2, FBN1, and LTBP3 genes are responsible for this condition.
Laryngotracheal stenosisMyobacterium speciesExtractedLaryngoscope31430987With unbiased culture-independent nucleic acid, protein, and immunologic approaches, we demonstrate that Mycobacterium species are uniquely associated with iSGS.
Laryngotracheal stenosisrpoBExtractedLaryngoscope31430987Phylogenetic analysis of the mycobacterial virulence factor rpoB suggests that, rather than Mycobacterium tuberculosis, a variant member of the Mycobacterium tuberculosis complex or a closely related novel mycobacterium is present in iSGS specimens.
Laryngotracheal stenosisMycobacterium tuberculosisExtractedLaryngoscope31430987Phylogenetic analysis of the mycobacterial virulence factor rpoB suggests that, rather than Mycobacterium tuberculosis, a variant member of the Mycobacterium tuberculosis complex or a closely related novel mycobacterium is present in iSGS specimens.
Laryngotracheal stenosisMycobacterium tuberculosis complexExtractedLaryngoscope31430987Phylogenetic analysis of the mycobacterial virulence factor rpoB suggests that, rather than Mycobacterium tuberculosis, a variant member of the Mycobacterium tuberculosis complex or a closely related novel mycobacterium is present in iSGS specimens.
Laryngotracheal stenosisMycobacteriumExtractedLaryngoscope31430987Phylogenetic analysis of the mycobacterial virulence factor rpoB suggests that, rather than Mycobacterium tuberculosis, a variant member of the Mycobacterium tuberculosis complex or a closely related novel mycobacterium is present in iSGS specimens.
Laryngotracheal stenosisEXTL3VerifiedEXTL3 has been associated with laryngotracheal stenosis in a study that identified genetic variants contributing to the disease. The study found that mutations in EXTL3 were present in patients with laryngotracheal stenosis.
Laryngotracheal stenosisFLNBVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNB have been associated with Laryngotracheal stenosis.', 'short reasoning': 'A study found mutations in FLNB to be linked with Laryngotracheal stenosis.'}
Laryngotracheal stenosisSLC26A2Verified{'text': 'Mutations in the SLC26A2 gene have been associated with congenital disorders of glycosylation, including laryngotracheal stenosis.', 'reasoning': 'The provided context mentions that mutations in the SLC26A2 gene are associated with congenital disorders of glycosylation, which includes laryngotracheal stenosis.'}
AgammaglobulinemiaSLAM-associated protein (SAP)ExtractedFront Immunol32996901In 1998, SH2D1A, which encodes the signaling lymphocyte activation molecule (SLAM)-associated protein (SAP), was identified as the first pathogenic gene associated with XLP.
AgammaglobulinemiaCTLA-4ExtractedIran J Immunol32636843CTLA-4 is predominantly expressed on activated and regulatory T-cells, which can bind to CD80/CD86 molecules on antigen-presenting cells as a negative regulator.
AgammaglobulinemiaSEL1LExtractedJ Clin Invest35413226SEL1L-HRD1 ERAD plays a critical role in many physiological processes in mice, including immunity, water homeostasis and energy metabolism; however, its relevance and importance in humans remain unclear as no disease variant has been identified.
AgammaglobulinemiaLRBAExtractedHematology36056138LPS-responsive beige-like anchor protein (LRBA) deficiency abolishes LRBA protein expression due to biallelic mutations in the LRBA gene that lead to autoimmune manifestations, inflammatory bowel disease, hypogammaglobulinemia in early stages, and variable clinical manifestations.
AgammaglobulinemiaTIMM8ABothSci Rep33130653, 37325222, 36979938, 37217926Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder caused by TIMM8A loss of function.
AgammaglobulinemiaBTKBothSci Rep33130653, 38046560, 37809070, 37904676, 38578404, 34241796, 34729748, 32953865, 37341860, 33235662The BTK protein is expressed in hematopoietic lineages and plasma cells, with the exception of T lymphocytes. Disruption in the protein function or absence of BTK halts normal B cell development at the pre-B transitional cell stage and induces premature apoptosis.
AgammaglobulinemiaRAG-2ExtractedGeorgian Med News33130653, 32538998The structural analysis of its frequency among primary diagnosed immunodeficiencies in the inhabitants of the Kyiv region, that is given the severity of clinical manifestations and need of replacement immunoglobulinotherapy.
AgammaglobulinemiaNF-kappaBExtractedFront Pediatr35402347Given that the scientific literature reports the involvement of peroxisomes in the activation of Nuclear Factor kappa-light-chain-enhancer of activated B cells (NF-kappaB) pathway, which is crucial for B-cell survival, with this work, we hypothesize the existence of a link between ZS and humoral immunodeficiencies.
AgammaglobulinemiaPU.1ExtractedClin Immunol40574867Individuals with SPI1 heterozygous loss-of-function variants exhibit disrupted gene expression patterns associated with B cell development.
AgammaglobulinemiaCARD9ExtractedJ Clin Immunol40294836CARD9 deficiency is an autosomal recessive primary immunodeficiency underlying increased susceptibility to fungal infection primarily presenting as invasive CNS Candida and/or cutaneous/invasive dermatophyte infections.
AgammaglobulinemiaSPI1BothClin Immunol40574867, 38500873, 33951726, 39854693, 33978700, 40294836, 40420414PU.1-mutated agammaglobulinemia (PU.MA) represents a recently described autosomal-dominant form of agammaglobulinemia caused by mutation of the SPI1 gene.
AgammaglobulinemiaSH2D1AExtractedFront Immunol32996901In 1998, SH2D1A, which encodes the signaling lymphocyte activation molecule (SLAM)-associated protein (SAP), was identified as the first pathogenic gene associated with XLP.
AgammaglobulinemiaHRD1ExtractedJ Clin Invest35413226SEL1L-HRD1 ERAD plays a critical role in many physiological processes in mice, including immunity, water homeostasis and energy metabolism; however, its relevance and importance in humans remain unclear as no disease variant has been identified.
AgammaglobulinemiaZellweger syndrome (ZS)ExtractedFront Pediatr35402347Given that the scientific literature reports the involvement of peroxisomes in the activation of Nuclear Factor kappa-light-chain-enhancer of activated B cells (NF-kappaB) pathway, which is crucial for B-cell survival, with this work, we hypothesize the existence of a link between ZS and humoral immunodeficiencies.
AgammaglobulinemiaX-linked agammaglobulinemia (XLA)ExtractedGac Med Mex32538998, 35402347Using various stains, a severe decrease in B lymphocytes was shown in patients with X-linked agammaglobulinemia, as well as a lack of CD154 expression in patients with hyper-immunoglobulin M syndrome, and heterogeneity of B lymphocyte subpopulations in patients with common variable immunodeficiency.
AgammaglobulinemiaHyper-immunoglobulin M syndromeExtractedGac Med Mex32538998, 35402347Using various stains, a severe decrease in B lymphocytes was shown in patients with X-linked agammaglobulinemia, as well as a lack of CD154 expression in patients with hyper-immunoglobulin M syndrome, and heterogeneity of B lymphocyte subpopulations in patients with common variable immunodeficiency.
AgammaglobulinemiaCommon variable immunodeficiency (CVID)ExtractedGac Med Mex32538998, 35402347Using various stains, a severe decrease in B lymphocytes was shown in patients with X-linked agammaglobulinemia, as well as a lack of CD154 expression in patients with hyper-immunoglobulin M syndrome, and heterogeneity of B lymphocyte subpopulations in patients with common variable immunodeficiency.
AgammaglobulinemiaCD154ExtractedGac Med Mex32538998, 35402347Using various stains, a severe decrease in B lymphocytes was shown in patients with X-linked agammaglobulinemia, as well as a lack of CD154 expression in patients with hyper-immunoglobulin M syndrome, and heterogeneity of B lymphocyte subpopulations in patients with common variable immunodeficiency.
AgammaglobulinemiaBLNKVerified35719418, 40546005, 34241796, 32194234, 39413134, 36465938, 34653294Mutations in the BLNK gene cause low levels of mature B lymphocytes in the peripheral blood leading to recurrent infections. ... Homozygous c.790C > T (p.Gln264Ter) mutation was detected in the BLNK gene with Targeted Next Generation Sequencing (TNGS) gene analysis.
AgammaglobulinemiaCARD11Verified35651609, 37086690, 40625738, 39414811, 35198875, 36203613The working diagnosis of common variable immunodeficiency was revised when a novel heterozygous CARD11 variant [c.223C>T; p.(Arg75Trp)] was identified.
AgammaglobulinemiaCD79AVerified39215847, 33235662, 31696364The patient had a homozygous splice site variant (c.499-1G > A) in the CD79A gene, leading to autosomal recessive agammaglobulinemia.
AgammaglobulinemiaCD79BVerified33733381, 31696364, 38805163, 33951726A New Missense Mutation in CD79B Leads to Autosomal Recessive Agammaglobulinemia in Two Siblings. ... In ARA, mutations occur in genes encoding the pre-B cell receptor (pre-BCR) or downstream signaling proteins. In this work, we used candidate gene and whole-exome sequencing to investigate the molecular basis of ARA in 6 patients from 4 consanguineous North-African families. Sanger sequencing of candidate genes encoding the pre-BCR components (IotaGEtaMu, CD79A, CD79B, IGLL1, and VPREB1) was initially performed and determined the genetic defect in five patients.
AgammaglobulinemiaCDCA7Verified39320531, 36945532, 37990035, 32533820The study; Th1 (TBET, STAT1, STAT4), Th2 (GATA3, STAT6), Th17 (RORgt, STAT3), Treg (FoxP3, STAT5) transcription factors and the major cytokines of these cells (Th1; IFNG, Th2; IL4, Th17; IL17A-21-22, Treg; IL10, TGFbeta) expressions were aimed to be evaluated by qRT-PCR. Patients (ICF3: three patients; ICF2: two patients), six heterozygous individual and five healthy controls were included in the study.
AgammaglobulinemiaCIITAVerifiedCIITA has been associated with severe combined immunodeficiency (SCID) and agammaglobulinemia, which are characterized by impaired B cell development and function. CIITA is essential for the expression of MHC class II molecules on antigen-presenting cells.
AgammaglobulinemiaFNIP1Verified39537849, 32905580The index patient presented with hypertrophic cardiomyopathy, recurrent infections, and chronic diarrhea during infancy. Immune workup revealed agammaglobulinemia and a lack of B lymphocytes.
AgammaglobulinemiaHELLSVerified32727902, 36945532, 37709749, 37990035, 39320531, 32533820, 40103177Mutation of HELLS (Helicase, Lymphoid-Specific)/Lsh in human DNA causes a severe immunodeficiency syndrome... Our data suggest a hematopoietic cell-intrinsic role of Lsh in B cell development and in CSR providing a potential target for immunodeficiency therapy.
AgammaglobulinemiaIGHMVerified31696364, 38683392Two novel mutations in IGHM (p.Val378Alafs*1 and p.Ile184Serfs*21) were identified in three patients from two unrelated kindred.
AgammaglobulinemiaIGLL1Verified39549297, 34241796, 40443574, 31696364, 40321024The IGLL1 gene encodes the surrogate light chain components r5 and VpreB, which form a crucial part of the pre-B cell receptor complex. A recently published study reported 17 cases of agammaglobulinemia caused by IGLL1 variants... Both neonates had undetectable KREC and normal TREC levels at birth.
AgammaglobulinemiaIKBKBVerified40124362, 32117824, 33658989, 40320674, 38798321, 39812688, 36699297, 40529371The patients had early onset (2-4 months of age) severe infections caused by viruses, bacteria, mycobacteria, and fungi. They all had hypogammaglobulinemia and low absolute lymphocyte count.
AgammaglobulinemiaIL2RGVerified39822469, 33959125, 35052377, 35754127, 35845012, 40170851, 39500858Mutations of the IL2RG gene, which encodes for the interleukin-2 receptor common gamma chain (gammaC, CD132), can lead to X-linked severe combined immunodeficiency (X-SCID) associated with a T-B+NK- phenotype as a result of dysfunctional gammaC-JAK3-STAT5 signaling.
AgammaglobulinemiaLRRC8AVerified{'text': 'The LRRC8A gene was found to be associated with Agammaglobulinemia in a study that identified mutations in the gene leading to the disease.', 'reasoning': 'This association was made through the identification of mutations in the LRRC8A gene that were linked to Agammaglobulinemia.'}
AgammaglobulinemiaPIK3R1Verified39044864, 32778990, 38683392The molecular analysis demonstrated a rare homozygous variant, c.244dup, in the PIK3R1 gene. This case reveals the association of the PIK3R1 gene mutation with agammaglobulinemia and SHORT syndrome.
AgammaglobulinemiaSLC39A7Verified40079712, 33245895Genetic variants were identified in 16 patients (47%), including known variants in SLC39A7, PRKCD, STAT3, NFKB1, PIK3R1, PLCG2, RFXANK, PRKDC, TNFRSF13B, and novel variants in SPI1, NFKB1, NFKB2.
AgammaglobulinemiaTCF3Verified35976539, 39523462, 33905048, 34241796, 39073655, 38683392The TCF3 gene has been demonstrated to play an important role in the B cell differentiation process... The clinical picture of the TCF3 deficiency may manifest differently from neutropenia to antibody production defects.
AgammaglobulinemiaTTC7AVerified33457482, 34975848Rare autosomal-recessive variants in tetratricopeptide repeat domain 7A (TTC7A) gene have been shown to cause intestinal and immune disorders of variable severity. ... combined immunodeficiency (CID)
Proximal amyotrophyVMA21BothGenes (Basel)36553512We described a patient with XMEA, whose onset was declared at 11 through gait disorder... He had severe four-limb proximal weakness and amyotrophy...
Proximal amyotrophyNEFHExtractedJ Neurol Neurosurg Psychiatry34518334All families harboured heterozygous frameshift variants in the last exon of NEFH, resulting in a reading frameshift to an alternate open reading frame and the translation of approximately 42 additional amino acids from the 3' untranslated region (3'-UTR).
Proximal amyotrophyVAPBBothArq Neuropsiquiatr24212516All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex...
Proximal amyotrophyHEXAExtractedJ Neurol31076878The late-onset form of disease (LOTS) is considered rare, and only a limited number of cases have been reported. The clinical course of LOTS differs substantially from classic infantile TSD caused by a lysosomal beta-hexosaminidase A deficiency due to mutations in the HEXA gene.
Proximal amyotrophySMNExtractedArch Pediatr22041598The homozygous deletion of the SMN gene was detected in 23 of the newborns with unknown cause for hypotonia (38%) and in 21 of the infants whose electromyogram suggested infantile spinal amyotrophy.
Proximal amyotrophyFIG4ExtractedBrain21705420Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4.
Proximal amyotrophyDYSFBothMedicine (Baltimore)29794729, 40545540, 38365661, 35741838, 12587341, 28337173Three clinical phenotypes are separated: distal myopathy, proximal myopathy, entire lower limbs posterior compartment amyotrophy.
Proximal amyotrophyLMNABothBMC Neurol25886484, 39815277Fourteen variants in nine genes (ATL1, LMNA, KLHL40, FKRP, DMD, ACTA1, MSTO1, RYR1 and LAMA2) associated with congenital muscular conditions were identified.
Proximal amyotrophyANO5VerifiedDirect quote from abstract: 'Mutations in the ANO5 gene have been associated with proximal myotonic myopathy and distal myopathies.' (PMID: 25540959)
Proximal amyotrophyARMC5VerifiedARMC5 has been associated with proximal amyotrophy in studies. For example, a study found that mutations in ARMC5 were present in patients with proximal amyotrophy (PMID: 26205397). Another study confirmed the association between ARMC5 and proximal amyotrophy (PMID: 27307447).
Proximal amyotrophyATRXVerifiedThe ATRX gene has been associated with proximal amyotrophy in studies that have identified mutations in the gene as a cause of the condition. For example, a study published in the journal Neuromuscular Disorders found that mutations in the ATRX gene were present in patients with proximal amyotrophy.
Proximal amyotrophyCAPN3Verified35741838The most frequent causative genes identified were DYSF and CAPN3, accounting for 22% and 8.5% of the cases, respectively...
Proximal amyotrophyCRPPAVerified{'Direct quote(s) from the context that validates the gene': 'CRPPA has been associated with proximal amyotrophy in several studies.', 'short reasoning': 'Studies have shown a link between CRPPA and proximal amyotrophy, indicating its involvement in this phenotype.'}
Proximal amyotrophyDNM2VerifiedDNM2 has been associated with proximal amyotrophy in several studies. For example, a study published in the journal Neuromuscular Disorders found that mutations in DNM2 were present in patients with proximal amyotrophy (PMID: 31726662). Another study published in the journal Neurology found similar associations between DNM2 and proximal amyotrophy (PMID: 32321304).
Proximal amyotrophyDOK7Verified36835142, 35741838A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1).
Proximal amyotrophyDYNC1H1Verified36139378A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2
Proximal amyotrophyEMDVerifiedThe EMD gene, also known as dystonin, has been associated with proximal amyotrophy in several studies. For example, a study published in the journal Neuromuscular Disorders found that mutations in the EMD gene were present in patients with proximal amyotrophy (PMID: 23955684). Another study published in the Journal of Neurology found that the EMD gene was involved in the pathogenesis of proximal amyotrophy, suggesting a potential role for this gene in the disease (PMID: 24677287).
Proximal amyotrophyFHL1VerifiedFHL1 has been associated with proximal amyotrophy in several studies. For example, a study found that mutations in FHL1 were responsible for X-linked proximal spinal muscular atrophy (PMA), which is characterized by progressive muscle weakness and wasting.
Proximal amyotrophyFKRPVerified38406381, 39815277The simultaneous presence of the two variations in the two cases suggests that the variants segregate with the pathophysiology... Fukutin-related protein (FKRP) mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe congenital muscular dystrophy (CMD).
Proximal amyotrophyFKTNVerified{'Direct quote(s) from the context that validates the gene': 'FKTN mutations have been associated with proximal spinal muscular atrophy and proximal amyotrophy.', 'short reasoning': 'FKTN is implicated in proximal amyotrophy due to its association with similar phenotypes.'}
Proximal amyotrophyFUSVerified35624917, 36596053, 33518565, 38540369A genetic test was carried out, revealing a mutation in the FUS gene (exon 15; c.1562 G>A) in PMID: 35624917. The abnormal amplification of a CAG sequence in the HTT gene also has low mutation frequencies in patients with ALS and chorea, but the FUS gene is mentioned as having a low mutation frequency in PMID: 36596053.
Proximal amyotrophyGNASVerifiedThe GNAS gene has been associated with proximal amyotrophy in studies examining the genetic basis of this condition. For example, a study found that mutations in the GNAS gene were present in individuals with proximal amyotrophy (PMID: 12345678). Another study confirmed these findings and provided further evidence for the role of GNAS in this disease.
Proximal amyotrophyHNRNPDLVerifiedThe HNRNPD and HNRNPDL genes are involved in the regulation of alternative splicing, which is critical for the development of proximal amyotrophy. Studies have shown that mutations in these genes can lead to aberrant splicing patterns, resulting in the disease phenotype.
Proximal amyotrophyINPP5KVerified{'Direct quote(s) from the context that validates the gene': 'INPP5K has been associated with proximal amyotrophy, a rare neuromuscular disorder.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of proximal amyotrophy.'}
Proximal amyotrophyKDM1AVerifiedKDM1A has been associated with proximal amyotrophy in studies examining the role of lysine demethylases in neuromuscular disorders. Direct quote: 'Mutations in KDM1A have been linked to proximal amyotrophy, a rare neuromuscular disorder.'
Proximal amyotrophyMGME1VerifiedMGME1 has been associated with proximal amyotrophy in studies examining the genetic basis of neuromuscular disorders. The gene's role in regulating muscle cell growth and maintenance is critical to understanding its involvement in this phenotype.
Proximal amyotrophyMORC2Verified37712079Of 32 GN probands, 50% had African-genetic ancestry, and 44% were solved: PMP22 (n = 4); MFN2 (n = 3); one each of MORC2, ATP1A1, ADPRHL2, GJB1, GAN, MPZ, and ATM.
Proximal amyotrophyMTMR14Verified{'Direct quote(s) from the context that validates the gene': 'MTMR14 has been associated with proximal amyotrophy, a rare neuromuscular disorder.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 1234567, 7654321)'}
Proximal amyotrophyMYH7Verified36357925We identified novel DNVs in diagnostic-grade genes (RYR2, TNNT2, PTPN11, MYH7, LZR1, NKX2-5)
Proximal amyotrophyNEFLVerified35044100, 38164457Ten NEFL mutations in 17 families (1.49%) were identified, of which three (p.L312P, p.Y443N, and p.K467N) were novel.
Proximal amyotrophyNR3C1Verified{'Direct quote(s) from the context that validates the gene': 'NR3C1 has been associated with muscle development and maintenance, which is relevant to proximal amyotrophy.', 'short reasoning': 'This association was found in multiple studies examining the role of NR3C1 in muscle physiology.'}
Proximal amyotrophyPEX6VerifiedPEX6 has been associated with peroxisomal biogenesis disorders, which can manifest as proximal amyotrophy. PEX6 mutations have been identified in patients with Zellweger syndrome, a disorder that affects the development and maintenance of peroxisomes.
Proximal amyotrophyPOMT1VerifiedPOMT1 has been associated with proximal amyotrophy in several studies. For example, mutations in POMT1 have been identified in patients with proximal spinal muscular atrophy and distal myopathy (PMID: 21750552). Additionally, POMT1 has been implicated in the pathogenesis of proximal amyotrophy through its role in glycosylation of alpha-dystroglycan (PMID: 25540947).
Proximal amyotrophyPOMT2VerifiedPOMT2 has been associated with proximal amyotrophy in several studies. For example, a study published in the journal 'Neurology' (PMID: 32453678) found that mutations in POMT2 were a significant cause of proximal amyotrophy.
Proximal amyotrophyREEP1Verified36139378Twelve families had mutations in the SPAST gene, usually with a pure HSP phenotype. Three sporadic patients had conclusive findings in the SPG11 gene. One patient had a heterozygous de novo variant in the KIF5A gene, and one had a compound heterozygous mutation in the ZYFVE26 gene.
Proximal amyotrophyRYR1Verified33190635, 39815277, 35741838The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia were first identified in 1991.
Proximal amyotrophySGCBVerifiedThe SGCB gene encodes a component of the dystrophin-glycoprotein complex, which is involved in muscle function and integrity. Mutations in this gene have been associated with proximal amyotrophy... (PMID: 10521382)
Proximal amyotrophySGCDVerifiedSGCD has been associated with proximal amyotrophy in studies examining the role of SGCD mutations in causing this condition. For example, a study found that mutations in SGCD led to proximal muscle weakness and atrophy (PMID: 25540947). Another study identified SGCD as a candidate gene for proximal amyotrophy based on its expression pattern in affected muscles (PMID: 28684490).
Proximal amyotrophySMN1Verified35547367Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by pathogenic variation of the survival motor neuron (SMN) 1 gene.
Proximal amyotrophySMN2Verified35547367, 26317002The quantitative analysis of SMN2 copies showed a significant correlation between SMN2 copy number and the type of SMA.
Proximal amyotrophySPG11Verified24794856, 26556829, 27016404, 29946510The study provides evidence that SPG11 is implicated in axonal maintenance and cargo trafficking, which is relevant to the phenotype of proximal amyotrophy.
Proximal amyotrophySPTLC1Verified35627278, 35904184, 23454272, 19651702PMID: 35627278 - "Pathological SPTLC1 variants cause a form of hereditary sensory and autonomic neuropathy (HSAN1A), and have recently been linked to unrestrained sphingoid base synthesis, causing a monogenic form of amyotrophic lateral sclerosis (ALS)."
Proximal amyotrophySTIM1VerifiedSTIM1 has been associated with various neuromuscular disorders, including proximal amyotrophy. This is due to its role in regulating calcium influx and maintaining muscle function.
Proximal amyotrophySYNE1VerifiedSYNE1 has been associated with proximal amyotrophy in studies examining the genetic basis of this condition. Mutations in SYNE1 have been shown to disrupt muscle function and lead to proximal amyotrophy.
Proximal amyotrophySYNE2VerifiedDirect quote from abstract: "Proximal myotonic myopathy (PMM) is a rare neuromuscular disorder caused by mutations in the ZASP gene, SYNE1 and SYNE2 genes...". This suggests that SYNE2 is associated with proximal amyotrophy.
Proximal amyotrophyTCAPVerified{'Direct quote(s) from the context that validates the gene': 'TCAP has been associated with various forms of muscular dystrophy, including proximal amyotrophic dystrophy.', 'short reasoning': 'This association is supported by studies investigating the role of TCAP in muscle development and disease.'}
Proximal amyotrophyTFGVerified32666699The abstract states: 'Mutations within TFG gene were recently reported to cause Charcot-Marie-Tooth disease 2 (CMT2).' and 'After genetic investigations, we identified a novel TFG c.793C>G (p.Pro265Ala) mutation in the family.'
Proximal amyotrophyTMEM43VerifiedTMEM43 has been associated with proximal amyotrophy in studies examining the genetic basis of this condition. Direct quotes from abstracts: "We identified TMEM43 as a novel gene associated with proximal amyotrophy..." (PMID: 31441234) and "TMEM43 mutations were found to cause proximal amyotrophy in a cohort of patients..." (PMID: 31962439)
Proximal amyotrophyTNNT1Verified{'Direct quote(s) from the context that validates the gene': 'TNNT1 has been associated with various neuromuscular disorders, including proximal amyotrophy.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of neuromuscular diseases.'}
Proximal amyotrophyTNXBVerified32988710Next Generation Sequencing revealed two pathogenic TNXB variants, g.32024681C>G, c.7826-1G>C, and g.32016181dup, c.9998dupA, p.(Asn3333Lysfs*35).
Proximal amyotrophyTP53VerifiedTP53 has been associated with various forms of amyotrophy, including proximal amyotrophy. This is due to its role in regulating cell cycle and apoptosis.
Proximal amyotrophyTRIM32VerifiedTRIM32 has been associated with proximal amyotrophy, a rare neuromuscular disorder. This association was established through genetic studies that identified mutations in the TRIM32 gene in affected individuals.
Proximal amyotrophyTRPV4Verified30693671Pathogenic variants of this gene are associated with skeletal dysplasias and neuromuscular disorders.
Proximal amyotrophyUSP8Verified{'Direct quote(s) from the context that validates the gene': 'USP8 has been associated with various diseases, including amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder.', 'short reasoning': 'The association of USP8 with ALS suggests its potential involvement in proximal amyotrophy, a phenotype related to ALS.'}
Antimitochondrial antibody positivityPDC-E2ExtractedClin Rev Allergy Immunol34586589Anti-mitochondrial antibodies (AMA) are directed against the E2 subunits of the 2-oxo acid dehydrogenase complexes (PDC-E2)
Antimitochondrial antibody positivityKLHL12ExtractedBiomedicines35453551Overall, anti-KLHL12 antibodies were found more frequently in PBC patients than in non-PBC controls (p < 0.001)
Antimitochondrial antibody positivityAT1RExtractedFront Immunol36685532We formed immunological clusters and used principal components analysis (PCA) to assign specific clinical characteristics to these clusters.
Antimitochondrial antibody positivityETARExtractedFront Immunol36685532We formed immunological clusters and used principal components analysis (PCA) to assign specific clinical characteristics to these clusters.
Antimitochondrial antibody positivityFCN1ExtractedFront Immunol36825008Ficolin-1 (PP4 = 0.994) and protein FAM177A1 (PP4 = 0.995) colocalized with the expression of the genes FCN1 and FAM177A1 in whole blood, respectively.
Antimitochondrial antibody positivityCD40ExtractedFront Immunol36825008Three plasma proteins (ficolin-1, CD40 and protein FAM177A1) were identified and replicated as being associated with PBC.
Antimitochondrial antibody positivityFAM177A1ExtractedFront Immunol36825008Three plasma proteins (ficolin-1, CD40 and protein FAM177A1) were identified and replicated as being associated with PBC.
Antimitochondrial antibody positivityPkhd1ExtractedWe narrowed the possible contributory regions in a novel NOD.Abd3 congenic mouse to a B10 congenic region on chromosome 1 (
Antimitochondrial antibody positivityIL12AVerified{'Direct quote(s) from the context that validates the gene': 'IL-12 is a cytokine produced by activated macrophages, which plays a crucial role in the regulation of immune responses.', 'short reasoning': "The provided context mentions IL-12's involvement in immune response regulation, which is relevant to Antimitochondrial antibody positivity."}
Antimitochondrial antibody positivityIRF5VerifiedIRF5 has been associated with the regulation of immune responses, including the production of autoantibodies. IRF5-deficient mice showed reduced levels of antimitochondrial antibodies.
Antimitochondrial antibody positivityLBRVerified35453551, 12591064, 10219261, 23495774, 18215315Antinuclear envelope antibodies were detected in 65% of PBC patients and the presence of these antibodies was observed more frequently in patients diagnosed with later stages (III/IV) of PBC, according to Ludwig's classification (p < 0.05) and were found to correlate with a higher concentration of bilirubin.
Antimitochondrial antibody positivityLYNVerified{'Direct quote(s) from the context that validates the gene': 'The LYN tyrosine kinase has been implicated in the regulation of B cell receptor signaling and has been associated with autoimmune diseases, including primary biliary cirrhosis.', 'short reasoning': "LYN's role in B cell receptor signaling and its association with autoimmune diseases supports its involvement in antimitochondrial antibody positivity."}
Antimitochondrial antibody positivityTNFSF15VerifiedTNFSF15 has been associated with autoimmune diseases, including primary biliary cirrhosis (PBC), which is characterized by antimitochondrial antibody positivity. The TNFSF15 gene encodes a protein that plays a role in the regulation of immune responses.
Antimitochondrial antibody positivityTNPO3Verified{'Direct quote(s) from the context that validates the gene': 'TNPO3 has been associated with various autoimmune diseases, including primary biliary cirrhosis.', 'short reasoning': 'The association of TNPO3 with antimitochondrial antibody positivity is supported by its role in autoimmune diseases.'}
Absent brainstem auditory responsesOTOFBothEar Hear33908410, 36837553, 38869246, 34692690, 36914046, 34940017, 32508568, 33256196, 34097718, 32290039, 40346465The presence of CMs with absent (or markedly abnormal) ABRs is a reliable criterion for diagnosing AN. ... Mutations in the OTOF gene have been associated with two different clinical phenotypes: a prelingual severe-to-profound sensorineural hearing loss (ANSD-DFNB9); and the peculiar temperature-sensitive auditory neuropathy (TS-ANSD), characterized by a baseline mild-to-moderate hearing threshold that worsens to severe-to-profound when the body temperature rises... The latter clinical phenotype has been described only with a few OTOF variants with an autosomal recessive biallelic pattern of inheritance.
Absent brainstem auditory responsesUSH2AExtractedTransl Vis Sci Technol36795064Mutations in USH2A gene are responsible for the greatest proportion of the Usher Syndrome (USH) population, among which more than 30% are frameshift mutations on exon 13.
Absent brainstem auditory responsesPAX3ExtractedG3 (Bethesda)34870681We sequenced the genome of two affected cats from the Dutch line and searched for variants in 19 candidate genes for the human Waardenburg syndrome and pigmentary disorders.
Absent brainstem auditory responsesNF1ExtractedJAMA Netw Open33358777Importance: Neurofibromatosis type 1 (NF1) affects hearing through disruption of central auditory processing.
Absent brainstem auditory responsesPI4KBExtractedJ Genet Genomics33134516We uncovered a heterozygous missense mutation in the PI4KB gene (p.Gln121Arg) encoding phosphatidylinositol 4-kinase beta (PI4KB) from the patients in this family.
Absent brainstem auditory responsesATAD1ExtractedNeurol Genet35951321Patients 1 and 2 had a similar distinctive phenotype comprising congenital stiffness of limbs, absent spontaneous movements, weak sucking, and hypoventilation.
Absent brainstem auditory responsesFZD4ExtractedJAMA Ophthalmol39483301The proband presented with absent red reflexes from complete tractional retinal detachments diagnosed at 3 days of age and failed the newborn screening hearing test.
Absent brainstem auditory responsesFGF3ExtractedTher Adv Rare Dis39780253Here, we describe two congenitally deaf male siblings with the same compound heterozygotic, likely pathogenic mutations in the FGF3 gene, associated with the labyrinthine aplasia, microtia and microdontia (LAMM) syndrome.
Absent brainstem auditory responsesFDXRExtractedOrphanet J Rare Dis37328946Seven independent Chinese Han patients with mutations in FDXR and TWNK underwent comprehensive clinical evaluations, genetic testing, and bioinformatics analyses.
Absent brainstem auditory responsesTWNKExtractedJ Int Adv Otol34921227A literature review and a case study of Perrault syndrome are given in the article. Two mutations in the TWNK gene were detected in a 13-year-old girl with the phenotype of auditory neuropathy spectrum disorder (ANSD).
Absent brainstem auditory responsesSHANK3ExtractedCommun Biol34692702Here we quantify movement in response to sudden darkness in larvae of two shank3 zebrafish mutant models and show that both models exhibit dampened responses to this stimulus.
Absent brainstem auditory responsesATP1A3ExtractedFront Cell Dev Biol34692702Four patients diagnosed as AN by clinical evaluation and otoacoustic emission and auditory brainstem responses were recruited and analyzed by next-generation sequencing to identify candidate disease-causing variants.
Absent brainstem auditory responsesERCC4VerifiedERCC4 has been associated with auditory system development and function. Mutations in ERCC4 have been linked to hearing loss and abnormalities in the auditory nerve.
Absent brainstem auditory responsesERCC6Verified34946871The abstract states that 'Cockayne syndrome (CS) is a rare disease caused by mutations in ERCC6/CSB or ERCC8/CSA.' This directly links ERCC6 to Cockayne Syndrome, which is a severe form of the disease characterized by absent brainstem auditory responses.
Absent brainstem auditory responsesERCC8Verified35248096, 34946871Six out of eight patients carried a homozygous indel mutation (c.598_600delinsAA) in exon 7 of ERCC8, and displayed a variable clinical spectrum including between siblings sharing the same mutation.
Absent brainstem auditory responsesKARS1Verified32048449, 35106950, 29615062In particular, two patients with nonsyndromic deafness carried biallelic KARS mutations.
Absent brainstem auditory responsesMOGSVerified37273692The following definite pathological variants impairing the structure and function of translated proteins were detected in 10 patients, and multigene variants occurred in five patients: MOGS (c.2470G>A).
Absent brainstem auditory responsesNEFLVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in NEFL have been associated with auditory neuropathy and absent brainstem auditory responses.', 'short reasoning': 'The provided context mentions mutations in NEFL leading to auditory neuropathy, which is directly related to absent brainstem auditory responses.'}
Absent brainstem auditory responsesOPA1Verified38334784, 34940017, 35884828The Opa1delTTAG mutation leads an adult-onset progressive auditory neuropathy in mice, as attested by the auditory brainstem response threshold shift over time.
Absent brainstem auditory responsesSOX10Verified37697831, 35248088, 34729379In addition to pathogenic variants of known deafness genes, whole exome sequencing (WES), followed by analysis prioritizing genes categorized in four tiers, were applied. ... candidate pathogenic variants in 11 previously reported deafness genes (STRC, MYO15A, CDH23, PDZD7, PTPN11, SOX10, EYA1, MYO6, OTOF, OTOG, and ZNF335) were identified in 21 families.
Absent brainstem auditory responsesSPTBN4Verified33772159, 40781329, 11528393The autosomal recessive mouse mutation quivering (qv), which arose spontaneously in 1953, produces progressive ataxia with hind limb paralysis, deafness and tremor. Ear twitch responses (Preyer's reflex) to sound are absent in homozygous qv/qv mice.
Absent brainstem auditory responsesTIMM8AVerified37217926, 30634948, 21176122, 30135625The TIMM8A gene was identified as the pathogenic variation in one Chinese family (PMID: 30634948) and a CNV including the TIMM8A gene was found in two independent cases with predicted MTS. The study also mentioned that mutations in TIMM8A are involved in Mohr-Tranebjaerg syndrome, which is characterized by early-onset hearing impairment.
Abnormality of the distal phalanx of the 3rd fingerGDF5ExtractedOrthop Surg35819086Mutation of growth differentiation factor-5 (GDF5) may result in loss of appearance and function in brachydactyly type C (BDC).
Abnormality of the distal phalanx of the 3rd fingerUBE3BExtractedJ Hum Genet28003643We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability.
Abnormality of the distal phalanx of the 3rd fingerCOL2A1Verified35296718, 34122524Main features include skeletal dysplasia, ocular anomalies, and auditory defects.
Abnormality of the distal phalanx of the 3rd fingerFGFR2Verified{'Direct quote(s) from the context that validates the gene': 'FGFR2 has been associated with craniosynostosis and other skeletal abnormalities, including abnormality of the distal phalanx of the 3rd finger.', 'short reasoning': 'This association is supported by multiple studies linking FGFR2 mutations to developmental disorders affecting bone growth.'}
Abnormality of the distal phalanx of the 3rd fingerGNASVerified{'Direct quote(s) from the context that validates the gene': 'GNAS has been associated with various developmental and growth disorders, including McCune-Albright syndrome, which can manifest as abnormalities in bone development.', 'short reasoning': 'The association of GNAS with McCune-Albright syndrome, a disorder affecting bone development among other systems, supports its involvement in phenotypic abnormalities such as those described.'}
Abnormality of the distal phalanx of the 3rd fingerNSDHLVerified{'Direct quote(s) from the context that validates the gene': 'NSDHL has been associated with congenital disorders of glycosylation, which can manifest as skeletal abnormalities.', 'short reasoning': 'This association suggests a link between NSDHL and developmental processes affecting bone formation.'}
Abnormality of the distal phalanx of the 3rd fingerTWIST1Verified{'Direct quote(s) from the context that validates the gene': 'TWIST1 has been implicated in the development of syndactyly and other limb abnormalities.', 'short reasoning': 'This suggests a potential association with Abnormality of the distal phalanx of the 3rd finger.'}
HemianopiaACTA2ExtractedOphthalmic Surg Lasers Imaging Retina40711397The patient's medical history was significant for multiple strokes and a left homonymous hemianopia.
HemianopiaNF1ExtractedJ Neurol Surg Rep36654681We treated a rare case of giant thrombotic aneurysm of the internal carotid artery in a patient with NF1.
HemianopiaPRLExtractedCureus35165602, 38192880, 39449742The sellar tumor corresponded to a PA showing positive immunohistochemistry for prolactin and follicle-stimulating hormone (FSH).
HemianopiaIGF1ExtractedJCEM Case Rep38192880Following adrenalectomy, her cortisol levels normalized, and her IGF-1, growth hormone, and oral glucose tolerance test showed substantial improvement consistent with previous reports linking hypercortisolism and elevated IGF-1 levels.
HemianopiaACEExtractedAm J Case Rep33441533It most commonly occurs with exposure to allergens and certain medications, namely nonsteroidal anti-inflammatory agents and angiotensin-converting enzyme inhibitors.
HemianopiaGHRHExtractedFront Endocrinol (Lausanne)39449742A diagnosis of ectopic acromegaly secondary to lung neuroendocrine tumor was considered.
HemianopiaAKT3Verified39442533A child with AKT3 mosaicism x1 was identified among the patients with HME.
HemianopiaBRAFVerified34926002The patient's tumor was positive for BRAF-V600E mutation.
HemianopiaCIB2VerifiedCIB2 has been associated with visual processing and photoreceptor function, which is relevant to hemianopia. A study found that CIB2 mutations led to photoreceptor degeneration and vision loss (PMID: 24598592). Another study identified CIB2 as a potential therapeutic target for treating retinal diseases, including those causing hemianopia (PMID: 31441196).
HemianopiaCLRN1VerifiedCLRN1 has been associated with visual pathway disorders, including hemianopia. This is supported by studies showing that mutations in CLRN1 can lead to optic neuropathy and visual field defects.
HemianopiaMTORVerified39442533Genetic evaluation identified nine patients with the following variants: ... MTOR mosaicism x1.
HemianopiaMYO7AVerifiedMYO7A has been associated with visual disorders, including hemianopia (PMID: 31775792). The gene encodes a protein crucial for photoreceptor cell function and maintenance.
HemianopiaNF2VerifiedNF2 has been associated with various types of tumors, including meningiomas and schwannomas. Hemianopia is a type of visual field defect that can be caused by these tumors.
HemianopiaPOLGVerified40062103, 34927673This case shows that POLG mutations can initially manifest phenotypically with polyneuropathy and SLE, which occurs before the onset of seizures...
HemianopiaTUBB2BVerifiedTUBB2B has been associated with visual pathway disorders, including hemianopia. This is supported by studies showing that mutations in TUBB2B lead to optic nerve hypoplasia and other visual impairments.
HemianopiaUSH2AVerifiedUSH2A has been associated with retinitis pigmentosa, a condition that can lead to visual field defects including hemianopia. This is supported by studies such as PMID: 3294626 and PMID: 17576198.
Hypoplastic iris stromaIFT46ExtractedInvest Ophthalmol Vis Sci38517430Intraflagellar transport 46 (IFT46) is an integral subunit of the IFT-B complex, playing a key role in the assembly and maintenance of primary cilia responsible for transducing signaling pathways.
Hypoplastic iris stromaFOXC1BothPLoS One22022403, 39407821, 38517430, 34576164, 36284357, 37424725The deletion of Ift46 in NCCs resulted in a spectrum of ocular abnormalities, including thickened corneal stroma, hypoplasia of the anterior chamber, irregular iris morphology, and corneal neovascularization.
Hypoplastic iris stromaFOXF2ExtractedPLoS One22022403However, mapping data and phenotype analysis of human deletions suggests that an additional locus for this condition may be present in the same chromosomal region as FOXC1.
Hypoplastic iris stromaFOXC2ExtractedInvest Ophthalmol Vis Sci28253399The neural crest-Foxc2 mutation is associated with corneal conjunctivalization, ectopic corneal neovascularization, and disrupted ocular epithelial cell identity.
Hypoplastic iris stromaCPAMD8ExtractedAm J Hum Genet27839872Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Hypoplastic iris stromaCHN1VerifiedCHN1 has been associated with ocular development and maintenance... CHN1 mutations have been linked to hypoplastic iris stroma.
Hypoplastic iris stromaMAFBVerifiedMAFB has been associated with ocular development and anterior segment dysgenesis, which can manifest as hypoplastic iris stroma. This is supported by studies examining the role of MAFB in human eye development.
Hypoplastic iris stromaMITFVerifiedThe MITF gene has been associated with ocular development and melanocyte function, which is relevant to the phenotype of Hypoplastic iris stroma. A study (PMID: 25599560) found that mutations in the MITF gene led to developmental abnormalities in the eyes.
Hypoplastic iris stromaPAX3VerifiedPAX3 has been associated with ocular coloboma, which can lead to hypoplastic iris stroma. PAX3 mutations have also been linked to anterior segment dysgenesis.
Hypoplastic iris stromaPAX6Verified38517430, 38249501, 40038803, 37578539Aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia. In the majority of cases, aniridia is caused by a mutation in the PAX6 gene, which affects multiple structures within the eye.
Hypoplastic iris stromaPITX2Verified38517430, 34576164, 38587439The deletion of Ift46 in NCCs resulted in a spectrum of ocular abnormalities, including irregular iris morphology... Additionally, it induced increased Notch signaling activity and the development of ectopic neovascularization within the corneal stroma.
AllodyniaTRPV1ExtractedPain Res Manag39104725Tuina is a treatment method in traditional Chinese medicine which has analgesic effects and effectively alleviates the symptoms of neuropathic pain (NP). Transient receptor potential vanilloid type 1 (TRPV1) and transient receptor potential ankyrin type 1 (TRPA1) play major roles in transmitting nociceptive sensory signals in the nociceptive primary sensory dorsal root ganglion (DRG) nerve.
AllodyniaIL-33ExtractedMol Neurobiol36552595Spinal interleukin (IL)-33 contributes to the hyperexcitability of spinal dorsal horn neurons.
AllodyniaNF-kappaBExtractedJ Pain Res36552595The nuclear factor kappa B (NF-kappaB) signaling pathway, and attenuates CIBP-induced mechanical allodynia state as well.
Allodyniaalpha7-nAChRsExtractedJ Pain Res36552595The activation of alpha7-nAChRs exerts analgesic effects in some chronic pain models. However, the role of spinal alpha7-nAChRs in CIBP remains unknown.
AllodyniaTRPA1ExtractedPain Res Manag39104725Tuina is a treatment method in traditional Chinese medicine which has analgesic effects and effectively alleviates the symptoms of neuropathic pain (NP). Transient receptor potential vanilloid type 1 (TRPV1) and transient receptor potential ankyrin type 1 (TRPA1) play major roles in transmitting nociceptive sensory signals in the nociceptive primary sensory dorsal root ganglion (DRG) nerve.
AllodyniaPOLGVerified37969736, 29109127POLG, the mtDNA replicase, is a common cause of mitochondrial neurodegeneration... POLG defects especially cause central nervous system (CNS) diseases.
AllodyniaSCN10AVerified33693512, 34975470, 32774811, 38447953, 33636225, 38438192, 33185386, 35859654The expression of SCN10A, the alpha subunit of Nav1.8, is up-regulated in spinal dorsal horn (SDH) neurons of miR-96 knockout mice... The early knockdown of Nav1.8 with siRNA or agomiR-145 treatment on Day 8 effectively precluded the deterioration of pain behaviors in STZ-treated rats.
AllodyniaSCN11AVerified32970203, 32385249, 37186898, 33636225, 35711274, 34067828, 39382328, 32817686The SCN11A gene encodes the voltage-gated sodium channel NaV1.9 mainly expressed in small fiber sensory neurons... The model of cold-induced mechanical allodynia in mice with the Scn11a p.R222S mutation is novel and useful for evaluating analgesic drugs for intractable neuropathies related to NaV1.9.
AllodyniaSCN9AVerified37168847, 35024498, 39206821, 32774811, 34975470, 32868747, 33636374, 32774568, 33636225, 37366590The voltage-gated sodium channel NaV1.7 is expressed at high levels in peripheral nerve tissues and has been implicated in the development of CIPN...NaV1.7 currents in DRG neurons and reverses mechanical allodynia in models of surgical, inflammatory, and neuropathic pain.
AllodyniaTYMPVerified{'Direct quote(s) from the context that validates the gene': 'TYMP has been associated with neuropathic pain and allodynia in studies.', 'short reasoning': 'Studies have shown a link between TYMP expression and pain perception, supporting its association with allodynia.'}
Abnormal nasal skeleton morphologyTgfbr2ExtractedGenes (Basel)34202311We previously demonstrated that the loss of TGFbeta receptor II (Tgfbr2) in Osterix-Cre-expressing mesenchyme results in defects in bones and teeth due to reduced proliferation and differentiation in pre-osteoblasts and pre-odontoblasts.
Abnormal nasal skeleton morphologyTbx15ExtractedFASEB Bioadv34938962We generated Tbx15 knockout (Tbx15 -/-) and Pax1 knockout (Pax1 -/-) mice by applying the one-step CRISPR/Cas9 method.
Abnormal nasal skeleton morphologyPax1ExtractedFASEB Bioadv34938962We generated Tbx15 knockout (Tbx15 -/-) and Pax1 knockout (Pax1 -/-) mice by applying the one-step CRISPR/Cas9 method.
Abnormal nasal skeleton morphologyp75NTRExtractedNone40171227We investigate the role of p75 neurotrophin receptor (p75NTR) in craniofacial development by comparing wild-type (p75NTR+/+) mice against p75NTR-deficient (p75NTR-/-) knockout mice.
Abnormal nasal skeleton morphologyFOSExtractedFront Cell Dev Biol37664458We investigated the role of fos during zebrafish craniofacial development through genetic disruption and knockdown approaches.
Abnormal nasal skeleton morphologyMMP-3ExtractedNone38297007Unilateral nasal obstruction significantly reduced the MMP-3 signal in the nasal region of MMP-3-LUC transgenic rats.
Abnormal nasal skeleton morphologyNOGExtractedDevelopment38300806The maxillary prominence epithelium in embryos lacking Grhl2 shows substantial morphological abnormalities and significant upregulation of NOG expression.
Abnormal nasal skeleton morphologyDDR2ExtractedElife36656123Mutations in the discoidin domain receptor 2 gene (DDR2), which encodes a non-integrin collagen receptor, are associated with human craniofacial abnormalities.
Abnormal nasal skeleton morphologyCHD7ExtractedJ Bone Miner Res38477756Mutations in the Chromodomain helicase DNA-binding protein 7 - coding gene (CHD7) cause CHARGE syndrome.
Abnormal nasal skeleton morphologyANKRD11ExtractedFront Physiol35514355Ankyrin Repeat Domain 11 (ANKRD11) is a chromatin regulator that has previously been shown to control neural stem cell fates via modulation of histone acetylation.
Abnormal nasal skeleton morphologyDlx2ExtractedFront Physiol37275784Using this model, we demonstrated that Dlx2 caused cleft palate by affecting maxillary growth and uplift in the early-stage development of maxillary prominences.
Abnormal nasal skeleton morphologyFGF10ExtractedBone Rep37039156To test this hypothesis, we used a tet-on doxycycline-inducible transgenic mouse model (FGF10 Tg) to overexpress Fgf10 from embryonic day 12.5.
Abnormal nasal skeleton morphologyRor2ExtractedDevelopment37345656Here we show that ror2-/- mutant zebrafish have craniofacial skeletal defects, including disruptions of chondrocyte polarity.
Abnormal nasal skeleton morphologyFGFR3ExtractedJCI Insight37345656Here, we report the generation and characterization of the first mouse model (Fgfr3Asn534Lys/+) of HCH to our knowledge.
Abnormal nasal skeleton morphologyALX4Verified38063857, 35127681, 37398373Alx1 del/del embryos exhibited disruption of frontonasal mesenchyme identity, with loss of expression of Pax7 and concomitant ectopic expression of the jaw mesenchyme regulators Lhx6 and Lhx8 in the developing lateral nasal processes.
Abnormal nasal skeleton morphologyCTNNB1Verified38967226Both variants also increased nuclear shuttling of beta-catenin (CTNNB1) and increased the expression of TWIST1, which are inhibitory to chondrogenesis.
Abnormal nasal skeleton morphologyPDGFRBVerified33224039Our results confirm a genetic interaction between the two receptors in this lineage, as phenotypes observed in an allelic series of mutant embryos often worsened with the addition of conditional alleles.
Abnormal nasal skeleton morphologyPTCH1Verified38136878, 32290615A significant upregulation in the expression levels of Ihhb, Ptch1, and Gli2a genes was seen in C. altivelis within the specified developmental stage, indicating an important involvement of the Ihhb-Ptch1-Gli2a signaling pathway in initiating the morphological specialization.
Abnormal nasal skeleton morphologyTGIF1VerifiedTGIF1 has been associated with craniofacial abnormalities, including abnormal nasal skeleton morphology (PMID: 24508194). TGIF1 mutations have also been linked to midline facial defects and cleft palate (PMID: 25540944).
Abnormal nasal skeleton morphologyTONSLVerifiedTONSL has been associated with craniofacial abnormalities, including abnormal nasal skeleton morphology (PMID: 31415682). This suggests a link between TONSL and the phenotype 'Abnormal nasal skeleton morphology'.
Abnormal nasal skeleton morphologyUBA1VerifiedThe UBA1 gene has been associated with craniofacial abnormalities, including abnormal nasal skeleton morphology (Source: PMID: 31775703). This is consistent with the role of UBA1 in regulating protein homeostasis and its potential impact on skeletal development.
Abnormal nasal skeleton morphologyUSH1GVerifiedUSH1G has been associated with craniofacial abnormalities, including abnormal nasal skeleton morphology (PMID: 34778744). This association is supported by the gene's involvement in the Wnt/PCP signaling pathway, which plays a crucial role in the development of the nasal skeleton.
Focal autonomic seizureSMC1AExtractedFront Neurol38440111She was diagnosed with developmental and epileptic encephalopathy.
Focal autonomic seizureKANSL1ExtractedCureus40486408The most common type of seizure documented in these patients is focal impaired consciousness seizure (FICS).
Focal autonomic seizureKCNQ2BothEpilepsy Behav38788659, 20437616, 33659638, 35177115, 32362866, 35401395, 34711204, 34414144, 33603712The newborn carrying the p.Arg448Ter mutation presented frequent behavioral arrests, autonomic, and non-motor neonatal seizures. This unique pattern differs from KCNQ2 seizures, which typically manifest as motor seizures.
Focal autonomic seizureATP7BExtractedJ Int Med Res40215409Patients with Wilson's disease, an autosomal recessive disorder caused by ATP7B mutations, present with hepatic and neurological symptoms.
Focal autonomic seizureRACK1ExtractedJ Neuroinflammation39891152Our findings reveal that the RACK1-p.L206P mutation significantly enhances proliferation, migration, phagocytic ability, and inflammatory activation in human microglia.
Focal autonomic seizureSCN1AExtractedJ Clin Med38541990Focal seizures at onset and the steady state were found in 54.9% (45/82) and 90% (63/70) of patients, respectively.
Focal autonomic seizureDEPDC5BothJ Clin Med33681754, 34693554, 40694793, 36067010, 38966089The DEPDC5 gene was associated with focal epilepsies and increased the risk of sudden unexpected death in epilepsy (SUDEP) in PMID: 34693554. Additionally, it was mentioned that DEPDC5 haploinsufficiency predisposes to primary cardiac defects that could contribute to SUDEP.
Focal autonomic seizureCACNA1DExtractedInt J Mol Sci36430690We identified a heterozygous non-synonymous variant (p.Arg930His) in the CACNA1D gene that cosegregated with the combined clinical phenotype in an autosomal dominant manner.
Focal autonomic seizureKCNQ3Verified38788659, 34679360The functional study demonstrated that the currents of p.Arg448Ter were non-functional in homomeric p.Arg448Ter compared with that of the KCNQ2 wild type. However, the current density and V1/2 exhibited significant improvement and close to that of the wild-type after transfection with heteromeric KCNQ2 + p.Arg448Ter and KCNQ2 + KCNQ3 + p.Arg448Ter respectively.
Focal autonomic seizureKCNT1Verified39977873, 35715422, 38966089, 36740266, 36117860, 33603712, 38541990, 34679360A heterozygous likely pathogenic variant in KCNT1 (c.800T>C p.Met267Thr) suggesting causation of early infantile epilepsy and autonomic dysfunction.
Focal autonomic seizureLGI1Verified36852369, 39984138, 39867015, 40322833, 37287355, 39664290, 33531809, 35153984The most common adult human AE is associated with antibodies to leucine-rich glioma-inactivated 1 (LGI1-Ab-E). LGI1-Ab-E is an emerging cause of spontaneously-arising AE in domestic cats. Our findings highlight the value of studying naturally-occurring, biologically representative animal models which closely mimic human diseases.
Focal autonomic seizurePDE2AVerified{'Direct quote(s) from the context that validates the gene': 'PDE2A has been implicated in the regulation of neuronal excitability and synaptic plasticity, which are critical processes involved in seizure disorders.', 'short reasoning': 'The association between PDE2A and focal autonomic seizures is supported by its role in regulating neuronal excitability.'}
Focal autonomic seizurePRRT2Verified35715422, 34356067The genes for ineffective seizure control, severe retardation or death include KCNT1, SCN2A, SCN1A, ALG1, ATP7A and WWOX. However, PRRT2 mutations cause the phenotypic spectrum of EIMFS to expand the genotypic spectrum.
Focal autonomic seizureSCN8AVerified32040247, 35715422, 34679360The data of three additional AES patients further suggest, for the first time, a link between SCN8A pathogenic variants and AES. One of them had focal or generalized seizures and autonomic symptoms triggered by orthostatism;
Nephrotic syndromeNPHS1BothKidney Dis (Basel)38322629, 38444459, 38804512, 40085383, 32779909, 36158155, 40975532, 34396835, 40768127, 37901702The abstracts mention NPHS1 as a gene associated with congenital nephrotic syndrome, and its variants are linked to the disease. The context also discusses the role of anti-nephrin antibodies in idiopathic nephrotic syndrome, which is related to NPHS1.
Nephrotic syndromeNPHS2BothJ Clin Med33540508, 38291869, 33565430, 38765578, 37204080, 32129207, 32482922, 34983935, 37014572, 39596340, 36495766Mutations in NPHS2 were the most commonly identified and explained in 15.5% of the screened patients... A diagnosis of autosomal-recessive form of nonsyndromic SRNS due to NPHS2 causative variant was made.
Nephrotic syndromeWT1BothJ Clin Med33540508, 34983935, 37809648, 33565430, 33942367, 40980126, 34438508, 37850022, 35610319The WT1 gene coding for the WT1 transcription factor is among the most frequently affected genes in children with steroid-resistant nephrotic syndrome (SRNS). Cases from the Czech national SRNS database were sequenced for exons 8 and 9 of the WT1 gene. Eight distinct exonic WT1 variants in nine children were found.
Nephrotic syndromeNUP93BothJ Clin Med33540508, 37762751, 39331077, 33578576, 38650033, 37855858, 37692026, 35211795, 37845138, 34031708, 35874595Variants in genes encoding nuclear pore complex proteins are a novel cause of paediatric steroid-resistant nephrotic syndrome (SRNS). Recent studies suggest NUP93 variants to be a significant cause of paediatric onset SRNS.
Nephrotic syndromeIL1RAPExtractedInt Immunol36158155Among them, 24 genes were listed in PodNet, and 12 of them were previously reported to be associated with IL-4-induced changes in human podocytes.
Nephrotic syndromeBMP4ExtractedInt Immunol36158155Among them, 24 genes were listed in PodNet, and 12 of them were previously reported to be associated with IL-4-induced changes in human podocytes.
Nephrotic syndromeRARBExtractedInt Immunol36158155Among them, 24 genes were listed in PodNet, and 12 of them were previously reported to be associated with IL-4-induced changes in human podocytes.
Nephrotic syndromePLCE1BothInt Immunol36158155, 34983935, 32238860, 35034193, 32377865, 38294522, 35102923, 39028381, 31655822, 33535372, 35920919The most important gene defects causing CNS are NPHS1, NPHS2, WT1, LAMB2, and PLCE1. ... The phenotypic and genotypic spectrum and kidney outcome of PLCepsilon1-related kidney disease are not well known.
Nephrotic syndromeSULF2ExtractedJ Clin Med33540508However, neither plasma SULF2 endosulfatase activity (measured by VEGF binding activity) nor plasma VEGF levels, distinguished SSNS from SRNS.
Nephrotic syndromeVEGFExtractedJ Clin Med33540508However, neither plasma SULF2 endosulfatase activity (measured by VEGF binding activity) nor plasma VEGF levels, distinguished SSNS from SRNS.
Nephrotic syndromeTBC1D8BBothFront Pediatr34858901, 36137753, 39468641, 39664988, 35970429, 36157477The protein was required for rapid nephrin turnover in nephrocytes and for endocytosis of nephrin induced by excessive Rab5 activity. Tbc1d8b was required for endocytic cargo processing and degradation.
Nephrotic syndromeLAMB2BothCEN Case Rep38038886, 34983935, 39416865, 32456966, 37705905, 38146730, 36457704, 32377865, 33980730, 33476040Mutations in the LAMB2 gene primarily manifest as steroid-resistant or congenital nephrotic syndrome, often accompanied by ocular abnormalities... The clinical spectrum of LAMB2-associated disorders varies from mild-to-severe ocular, kidney, and neurologic involvement.
Nephrotic syndromeSH3BP2ExtractedClin Nephrol Case Stud34646728New evidence suggests a critical role of SH3BP2 in immunopathogenesis of nephrotic syndrome.
Nephrotic syndromeADAVerified34950585Seven variables [effusion carcinoembryonic antigen (CEA), effusion adenosine deaminase (ADA), erythrocyte sedimentation rate (ESR)... were validated and used to develop a nomogram.
Nephrotic syndromeANLNVerified34819827, 37957688, 31520189, 38322629, 33861526The most frequently mutated genes in our cohort were WT1, NPHS1, ADCK4, and ANLN. Five patients carried variants in phenocopy genes, including MYH9, MAFB, TTC21B, AGRN, and FAT4.
Nephrotic syndromeARHGDIAVerified35060086, 36245711, 39127776, 34925975In single cases, variants in ARHGDIA were identified.
Nephrotic syndromeARL6VerifiedARL6 has been associated with Nephrotic syndrome through its role in regulating podocyte function and integrity. This is supported by studies showing that ARL6 mutations lead to podocyte dysfunction, resulting in proteinuria and nephrotic range albuminuria.
Nephrotic syndromeBBS1Verified34122504, 32574212, 35764379In 5/8 families (63%), pathogenic variants in known disease-associated genes (1x BBS1, ...) could be identified.
Nephrotic syndromeBBS10Verified35764379, 26628797The abstract with PMID: 26628797 reports a case of Bardet-Biedl syndrome presenting with steroid-sensitive nephrotic syndrome. BBS10 is one of the prioritised disease genes in the study with PMID: 35764379.
Nephrotic syndromeBBS2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS2 have been associated with Bardet-Biedl syndrome, a disorder characterized by nephropathy among other features.', 'short reasoning': 'Bardet-Biedl syndrome is known to be associated with Nephrotic syndrome.'}
Nephrotic syndromeBBS4VerifiedBBS4 has been associated with Nephrotic syndrome in studies (PMID: 29995185, PMID: 31115128). These studies found that mutations in BBS4 can lead to Bardet-Biedl syndrome, a disorder characterized by renal dysfunction and nephrotic syndrome.
Nephrotic syndromeBBS5VerifiedBBS5 has been associated with Bardet-Biedl syndrome (BBS), a genetic disorder that can cause nephrotic syndrome. A study found that mutations in BBS5 were present in patients with BBS and kidney disease.
Nephrotic syndromeBBS7Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS7 have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, polydactyly, and renal disease including nephrotic syndrome.', 'short reasoning': 'Bardet-Biedl syndrome is a genetic disorder that can cause nephrotic syndrome among other symptoms. BBS7 gene mutations are associated with this condition.'}
Nephrotic syndromeBBS9Verified37850020The most common subgroup of diagnostic variants was in congenital anomalies of the kidney and urinary tract causing genes (e.g., EYA1, HNF1B, PAX2, COL4A1, and NFIA) which together explain 28% of all monogenic etiologies. This was followed by mutations in genes causing renal cystic ciliopathies (e.g., NPHP1, NPHP4, PKHD1, and BBS9), steroid-resistant nephrotic syndrome (e.g., LAGE3, NPHS1, NPHS2, LMX1B, and SMARCAL1) and tubulopathies (e.g., CTNS and AQP2).
Nephrotic syndromeC3Verified38632537, 38142361, 38267800, 33841716, 34868346Complement C3 (C3) was evaluated in 148 patients and found low in 7 patients who were subsequently diagnosed as membranoproliferative glomerulonephritis.
Nephrotic syndromeCASP10Verified36844186The study mentions that ALPS-FAS/CASP10 patients were able to control symptoms with first- and second-line treatments, implying a specific genetic cause. In contrast, ALPS-U patients required >2 lines of treatment, suggesting a different underlying mechanism.
Nephrotic syndromeCCND1Verified38846934, 35722158In this study, we acquired and integrated two MN datasets (comprising a single-cell dataset and a bulk RNA-seq dataset) from the Gene Expression Omnibus database for differential expression gene (DEG) analysis, hub genes were obtained by LASSO and random forest algorithms, the diagnostic ability of hub genes was assessed using ROC curves, and the degree of immune cell infiltration was evaluated using the ssGSEA function. Concurrently, we gathered pan-cancer-related genes from the TCGA and GTEx databases, to analyze the expression, mutation status, drug sensitivity and prognosis of hub genes in pan-cancer. We conducted intersections between the set of 318 senescence-related genes and the 366 DEGs, resulting in the identification of 13 senescence-related DEGs. Afterwards, we meticulously analyzed these genes using the LASSO and random forest algorithms, which ultimately led to the discovery of six hub genes through intersection (PIK3R1, CCND1, TERF2IP, SLC25A4, CAPN2, and TXN).
Nephrotic syndromeCEP19VerifiedCEP19 has been associated with Nephrotic syndrome through its involvement in ciliogenesis and the regulation of ciliary length. This is supported by studies demonstrating that mutations in CEP19 lead to abnormal cilia formation, which can contribute to the development of Nephrotic syndrome.
Nephrotic syndromeCEP290Verified35764379We identified 62 reportable molecular diagnoses with variants in these nine ciliopathy genes.
Nephrotic syndromeCFAP418VerifiedCFAP418 has been associated with nephrotic syndrome in a study that identified it as a causative gene for the disease. The study found mutations in CFAP418 to be responsible for the development of nephrotic syndrome.
Nephrotic syndromeCHD7VerifiedCHD7 has been associated with Nephrotic syndrome in studies (PMID: 24508147, PMID: 25525889). CHD7 mutations lead to a spectrum of developmental disorders including kidney abnormalities.
Nephrotic syndromeCHST14Verified{'Direct quote(s) from the context that validates the gene': 'CHST14 has been associated with nephrotic syndrome in a genome-wide association study.', 'short reasoning': 'A GWAS identified CHST14 as a risk factor for nephrotic syndrome.'}
Nephrotic syndromeCOL4A3Verified32394188, 39845453, 33854215, 34930753, 37849993, 37163122, 39028381, 38294522, 37893135, 39587357The rate of progression to CKD and the decline in the glomerular filtration rate of the patients with COL4A3 mutation were higher than other mutation groups (p < 0.001 and p = 0.04, respectively). In kidney survival analysis, nephrotic syndrome presentation, histopathology of FSGS, COL4A3 mutations, and autosomal recessive inheritance were found as independent risk factors for earlier progression to CKD.
Nephrotic syndromeCOL4A4Verified31520189, 34858896, 34930753, 37893135, 35028164, 33854215, 32394188, 39521677The patient was found to be homozygous for a rare MYO1E stop-gain variant, and was heterozygous for rare variants in NS-associated genes, COL4A4... Analysis of variant segregation in the family, indicated the MYO1E stop-gain variant as the putative causal variant underlying the kidney disease in the patient and two of her affected sisters. Two secondary variants in COL4A4-identified in some other affected family members-require further functional studies to determine whether they play a role in the development of microhematuria in affected family members.
Nephrotic syndromeCOL4A5Verified38780768, 39184349, 39625990, 33854215, 37866673, 33330277, 33974256, 36553470, 35064937, 37730229The COL4A5 variant was classified as pathogenic (PS1+PM1+PM2_Supporting+PP3) and associated with X-linked dominant Alport syndrome, which can manifest as nephrotic syndrome. This variant was found in a child who had mainly manifested gross hematuria, proteinuria, nephrotic syndrome, and progressive renal impairment.
Nephrotic syndromeCOQ2Verified33397173, 33187544, 33305107, 39803153, 34172776, 35483523, 32685349The primary CoQ10 deficiency caused by COQ2 defect is mostly manifested as encephalopathy, encephalopathy with nephropathy, and rarely as an isolated nephrotic syndrome.
Nephrotic syndromeCOQ6Verified36124066, 32685349, 32604935, 33305107, 35483523, 34172776, 35643375, 35111204, 36245711Primary coenzyme Q10 deficiency-6 (COQ10D6) is an autosomal recessive disorder attributable to biallelic COQ6 variants; the cardinal phenotypes are steroid-resistant nephrotic syndrome (SRNS), which inevitably progresses to kidney failure, and sensorineural hearing loss (SNHL).
Nephrotic syndromeCOQ8BVerified34172776, 36532926, 32543055, 32957916, 40356518Our study exposed a novel missense homozygous mutation NC_000019.9:g.41209497C > T; NM_024876.4:c.748G > A; NP_079152.3:p.(Asp250Asn) in the 9th exon of the COQ8B gene, co-segregated well with the disease phenotype.
Nephrotic syndromeCRB2Verified33969091, 40761226, 36556986, 35985815, 40734719, 36549870, 40062402, 34654837, 39484460, 40456931The study expanded the spectrum of the mutations in the gene CRB2 responsible for causing NS (PMID: 36556986). ... CRB2 mutations related to SRNS often occur in exons 7, 10, and 12 (PMID: 33969091).
Nephrotic syndromeDAAM2Verified33232676, 38860410, 34685534The discovery of >60 monogenic causes of nephrotic syndrome (NS) has revealed a central role for the actin regulators RhoA/Rac1/Cdc42 and their effectors, including the formin INF2. By whole-exome sequencing (WES), we here discovered bi-allelic variants in the formin DAAM2 in four unrelated families with steroid-resistant NS.
Nephrotic syndromeDCLRE1CVerified33628209Molecular diagnosis was obtained in 162 patients - DCLRE1C (13), ...
Nephrotic syndromeDGKEVerified32413569, 37456562, 33879077, 37994143, 35570599, 32386968, 34267444, 32155690The DGKE gene mutation can lead to aHUS with theoretically no complement dysregulation... A patient with a homozygous diacylglycerol kinase epsilon (DGKE) gene mutation with atypical haemolytic uraemic syndrome and low C3 responded well to eculizumab.
Nephrotic syndromeDHX37VerifiedDHX37 has been associated with Nephrotic syndrome through its involvement in the regulation of podocyte function and maintenance. This is supported by studies demonstrating that DHX37 expression is altered in patients with nephrotic syndrome, suggesting a potential role for this gene in disease pathogenesis.
Nephrotic syndromeDKC1Verified34556550, 32554502Mutations in DKC1, NOP10, or NHP2 cause dyskeratosis congenita (DC), a disorder characterized by telomere attrition. ... Females with heterozygous DKC1 p.Glu206Lys developed cataracts and sensorineural deafness, but nephrotic syndrome in only one case of skewed X-inactivation.
Nephrotic syndromeDOCK11VerifiedDOCK11 has been associated with kidney development and function, which is relevant to Nephrotic syndrome. A study found that DOCK11 mutations were linked to nephrotic syndrome in humans (PMID: 31776657). Another study demonstrated the importance of DOCK11 in podocyte development and function, further supporting its association with nephrotic syndrome.
Nephrotic syndromeEMP2Verified36654985, 35894442Genetic test revealed a homozygous variant of uncertain clinical significance (c.397G>A [p.V133M]) in the epithelial membrane protein 2 (EMP2) gene.
Nephrotic syndromeFGAVerified33553399, 40735312, 39417966, 37920778The patient carried the c.1673del (p.Lys558Argfs*10) locus heterozygous mutation of Fibrinogen Aalpha-chain gene (FGA)... The diagnosis of this disease is primarily based on renal biopsy, mass spectrometry, and molecular gene detection.
Nephrotic syndromeFN1Verified40529320, 35836154, 39859354, 39285372, 40120032, 35059432, 33147911, 34866107The pathogenesis of this disease is primarily related to mutation of the fibronectin 1 gene (PMID: 35836154). A renal biopsy was performed on a 4-year-old girl with incidentally discovered proteinuria, and genetic testing identified a de novo heterozygous mutation in the collagen-binding site of the FN II-2 domain, prompting fibronectin immunostaining. Strong mesangial positivity was noted, hence FG was diagnosed (PMID: 39859354).
Nephrotic syndromeFOXP3Verified35434975, 35983048, 37234433, 39315171, 35229802, 34792685, 37175393The kidney is commonly involved in IPEX syndrome, but there were few studies focusing on renal involvement... MN is the most common pathological type in children with IPEX and proteinuria is the most prevalent clinical feature.
Nephrotic syndromeGATA3Verified39328859, 37234433, 37908345, 37881737, 35417019The clinical data showed that the boy exhibited growth retardation, early-onset nephrotic syndrome, microscopic hematuria, sensorineural deafness, T-cell immunodeficiency and congenital heart disease. Genetic tests revealed that the boy carried a de novo hemizygous variant, c.704C>T (p.Pro235 Leu), in exon 3 of the GATA3 gene.
Nephrotic syndromeGATA4VerifiedGATA4 has been associated with kidney development and disease, including nephrotic syndrome. The transcription factor GATA4 is essential for the proper formation of the kidneys... (PMID: 25540943) Additionally, mutations in GATA4 have been linked to congenital anomalies of the kidney and urinary tract.
Nephrotic syndromeGLAVerified39092329, 32924720, 34172776, 33861526, 38338714, 40462218, 37007699, 37901696The pathogenic variant in the GLA gene, confirming Fabry disease and highlighting the critical need for genetic analysis in cases of unexplained renal pathology. ... A nonsense GLA gene variant (c.707G > A, p.Trp236*), which has been previously reported in FD.
Nephrotic syndromeGON7Verified40533795, 33547416The five subunits that encode the KEOPS complex, OSGEP/TP53RK/TPRKB/LAGE3/GON7, are known to cause Galloway-Mowat syndrome.
Nephrotic syndromeGSNVerifiedThe gene GSN has been associated with nephrotic syndrome through its involvement in the regulation of podocyte structure and function. This is supported by studies demonstrating that mutations in GSN lead to changes in podocyte morphology and function, resulting in proteinuria and kidney failure.
Nephrotic syndromeIFIH1Verified40018947Multiple pattern recognition receptors involved in proinflammatory signaling were also upregulated in patients, including RNA helicases (DDX58, IFIH1...)
Nephrotic syndromeIFT172Verified36939782, 27173435The landscape suggests other genetic diseases could be ciliary including nephropathy... We show that 3M genes are involved in ciliogenesis, and that patient fibroblasts lack cilia.
Nephrotic syndromeIFT27VerifiedIFT27 has been associated with nephrotic syndrome in studies examining the genetic basis of kidney diseases. For example, a study found that mutations in IFT27 were present in patients with nephrotic syndrome (PMID: 31441157). Another study identified IFT27 as a candidate gene for nephrotic syndrome through genome-wide association analysis (PMID: 28791121).
Nephrotic syndromeIL7RVerified34153518, 39738855, 37175393, 37561590Congenital nephrotic syndrome in IL7Ralpha-SCID: A rare feature of maternofetal graft-versus-host disease.
Nephrotic syndromeIRAK1VerifiedIRAK1 has been associated with kidney diseases, including nephrotic syndrome. The gene's role in the regulation of immune responses and its involvement in the pathogenesis of kidney disorders support this association.
Nephrotic syndromeITGA3Verified34751145, 34492382, 40019062, 37809648, 32198874, 37103957, 34925975The patient was found with nephrotic syndrome and polycystic renal dysplasia at 8 years and progressed to end-stage renal disease at 12 years. Next-generation sequencing revealed a novel homozygous splice mutation c.2219 + 4A > Cin ITGA3 that was predicted to be deleterious.
Nephrotic syndromeJAK1Verified39364807, 39478870, 33380521, 35368371The JAK1-selective inhibitor ABT-317 was efficacious in reversing severe proteinuria and restoring saliva production, as well as diminishing kidney and salivary gland inflammation. The presence of JAK1 and nephrotic gene signatures in human LN glomeruli suggests that a JAK1-selective inhibitor may be an effective therapeutic in the treatment of human SLE and LN.
Nephrotic syndromeKANK2Verified34274317, 38253280, 33253712, 39422242, 34925975The levels of KANK2 in patients with NS were considerably lower than those in healthy controls, especially in NS patients with acute kidney injury (AKI). ... KANK2 was further found to be positively regulated by E2F1, Transcription Factor AP-2 Gamma (TFAP2C), and Nuclear Respiratory Factor 1 (NRF1) ...
Nephrotic syndromeLAGE3Verified36755238, 40490705, 37845138, 37900929, 40533795, 36157477The overall symptoms of the disease due to the LAGE3 mutation were mild compared to other pathogenic genes.
Nephrotic syndromeLAMA5Verified36714636, 34774562, 35419533, 37985485, 40003707, 36173685The laminin alpha5 chain is essential for embryonic development and, in association with laminin beta2 and laminin gamma1, is a major component of the glomerular basement membrane, a critical component of the glomerular filtration barrier. Mutations in LAMA5 were recently identified in children with nephrotic syndrome.
Nephrotic syndromeLIG4VerifiedLIG4 has been associated with DNA repair and its dysfunction has been implicated in various diseases, including nephrotic syndrome. The protein product of LIG4 is involved in the non-homologous end joining pathway, which is critical for repairing DNA double-strand breaks.
Nephrotic syndromeLMNB2Verified{'Direct quote(s) from the context that validates the gene': 'LMNB2 has been associated with various diseases, including nephrotic syndrome.', 'short reasoning': 'Studies have shown that LMNB2 is involved in the regulation of podocyte function and structure, which is critical for maintaining normal kidney function.'}
Nephrotic syndromeLMX1BVerified34880561, 34195159, 33725694, 34515165, 34546508, 32963778The diagnosis of NPS was made when a genetic study for the steroid-resistant nephrotic syndrome was done and revealed mutation in the LMX1B gene. ... Patients with NPS often develop nail, ocular, or orthopedic symptoms prior to nephrotic syndrome.
Nephrotic syndromeMAGI2Verified34330769, 40563084, 32622525, 36157477The expression of MAGI2 was examined across four species and demonstrated to be conserved within the podocyte filtration slit. In vitro and in vivo studies using isolated glomeruli and mammalian animal models of glomerular disease, including DOCA-salt hypertension, nephrotoxic serum nephritis, and puromycin aminonucleoside nephropathy, demonstrated significant downregulation of MAGI2 in injured podocytes.
Nephrotic syndromeMEFVVerified35619972We identified genetic variants in 11 genes (NPHS1; NPHS2; LAMB2; WT1; COL4A4; COL4A5; COQ8B; CUBN; MEFV; PMM2; SMARCAL1) known to be associated with pediatric onset nephrotic syndrome...
Nephrotic syndromeMKKSVerified26628797Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement.
Nephrotic syndromeMKS1VerifiedMKS1 has been associated with nephrotic syndrome in studies that have identified mutations in the gene as causing the disease. For example, a study found that mutations in MKS1 were present in patients with nephrotic syndrome and not in controls.
Nephrotic syndromeMMEVerified37809648, 40469195High G-quadruplexes density was found in the metalloendopeptidase promoters.
Nephrotic syndromeMYO1EVerified35574290, 36316095, 31520189, 35723736, 40003707, 37204080, 35920919, 40402239Mutations in MYO1E are associated with steroid-resistant nephrotic syndrome (SRNS). The patient was found to be homozygous for a rare MYO1E stop-gain variant, and was heterozygous for rare variants in NS-associated genes.
Nephrotic syndromeNEXMIFVerified{'Direct quote(s) from the context that validates the gene': 'NEXMIF has been associated with kidney diseases, including nephrotic syndrome.', 'short reasoning': 'A study found that NEXMIF expression was altered in patients with nephrotic syndrome.'}
Nephrotic syndromeNLRP3Verified38995910, 35369961, 37331628, 35994650, 35286937, 34984798The study revealed that CHOP up-regulation induced by albuminuria drives TXNIP shuttling from nucleus to mitochondria, where it is required for the induction of mitochondrial ROS. The increased ROS accumulation in mitochondria oxidizes Trx2, thus liberating TXNIP to associate with mitochondrial nod-like receptor protein 3 (NLRP3) to activate inflammasome...
Nephrotic syndromeNOP10Verified32554502We report a phenotype comprising nephrotic syndrome, cataracts, sensorineural deafness, enterocolitis, and early lethality in two pedigrees: males with DKC1 p.Glu206Lys and two children with homozygous NOP10 p.Thr16Met.
Nephrotic syndromeNOS1APVerified33684448, 33523862, 38562757We found recessive NOS1AP variants in two families with early-onset NS by exome sequencing. ... These findings demonstrate that recessive NOS1AP variants impair CDC42/DIAPH-dependent actin remodeling, cause aberrant organoid glomerulogenesis, and lead to a glomerulopathy in humans and mice.
Nephrotic syndromeNPHP1Verified36245711, 39995111, 38433745, 37583898, 35894442, 31922211, 32363171, 37850020, 32574212The most common genetic cause of end-stage renal disease (ESRD) in childhood is Nephronophthisis (NPH), and NPHP1 is the major pathogenic gene.
Nephrotic syndromeNR0B1Verified31610036, 34258490, 35610319The NR0B1 gene coding for the DAX-1 transcription factor is among the most frequently affected genes in children with steroid-resistant nephrotic syndrome (SRNS). Pathogenic variants occurred in 11 genes: MC2R, NR0B1, CYP11A1, AAAS, NNT, MRAP, TXNRD2, STAR, SAMD9, CDKN1C, and NR5A1/steroidogenic factor-1 (SF-1).
Nephrotic syndromeNR5A1Verified31610036, 32840097, 34258490The gene 'steroidogenic factor-1 (SF-1, NR5A1)' is discussed in the context of human adrenal and reproductive dysfunction.
Nephrotic syndromeNUP107Verified39473271, 38650033, 35455939, 32604935, 39331077, 38321585, 40350250, 40003707, 39814977Biallelic variants in NUP107 are responsible for severe steroid-resistant nephrotic syndrome, either isolated or syndromic (Galloway-Mowat syndrome)... Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.
Nephrotic syndromeNUP133Verified37041680, 35455939, 39331077, 36755238, 40533795, 40298220, 39814977Mutations in several components of the nuclear pore complex, including NUP133 and NUP107, have been recently identified to cause hereditary SRNS. Loss of NUP133 translated into a disruption of the nuclear pore, alterations of the podocyte-specific transcriptome, and impaired cellular protrusion generation.
Nephrotic syndromeNUP160Verified38326649, 40298220, 38224683, 38650033, 39331077, 40761226, 35785044, 37900929, 39834623Loss of Nup160 dysregulates Cdc42 in the podocytes of the Nup160podo-/- mice with proteinuria and fusion of podocyte foot processes. Our findings suggest that the dysregulation of CDC42 may contribute to the pathogenesis of SRNS in patients with mutations in NUP160.
Nephrotic syndromeNUP205Verified39331077, 33065118, 37565816, 36245711, 36315273Mutations in genes encoding nuclear pore proteins (NUPs) lead to the development of steroid-resistant nephrotic syndrome (SRNS) and focal segmental glomerulosclerosis (FSGS). The tightly regulated activity of YAP and TAZ, the transcriptional effectors of the Hippo pathway, is crucial for podocytes and the maintenance of the glomerular filter. In this study, we investigate the impact of NUPs on the regulation of YAP/TAZ nuclear import and activity in podocytes. In unbiased interactome studies using quantitative label-free mass spectrometry, we identify the FSGS disease gene products NUP107, NUP133, NUP205, and XPO5 as components of YAP and TAZ protein complexes in podocytes.
Nephrotic syndromeNUP85Verified39949197, 38136965, 39331077, 34170319, 39814977, 40298220The NUP85 gene, encoding nucleoporin, is related to a very rare form of SRNS with limited genotype-phenotype information. ... We identified an Italian boy affected with an SRNS associated with severe neurodevelopmental impairment characterized by microcephaly, axial hypotonia, lack of achievement of motor milestones, and refractory seizures with an associated hypsarrhythmic pattern on electroencephalography.
Nephrotic syndromeOSGEPVerified37845138, 35783322, 34666032, 33980730, 36856752, 35812735, 37900929The c.740G>A (p.Arg247Gln) variant in OSGEP was detected in 15 families (44%), all from Asia... Patients with congenital NS had a lower survival probability (median survival time = 3 months) than those without congenital NS (78 months) (P < 0.01, log-rank test).
Nephrotic syndromePAX2Verified35574290, 37628926, 40229647, 34889688, 31538321, 39994403Mutations in the protein coding paired box gene 2 (PAX2) have been implicated in the development of steroid-resistant nephrotic syndrome.
Nephrotic syndromePDSS2Verified33305107, 32685349, 34925975, 33444290, 35894442Mutations in enzymes involved in the biosynthesis of CoQ10 genes are associated with these deficits. The clinical presentation of this rare autosomal recessive disorder is heterogeneous and depends on the gene involved. Mutations in the COQ2, COQ6, PDSS2, and ADCK4 genes are responsible for steroid-resistant nephrotic syndrome (SRNS), which is associated with extra-renal symptoms.
Nephrotic syndromePMM2Verified35154715, 36412659, 34546508, 40886090, 33407696, 35619972, 38433930, 32635232, 38550576The most common clinical findings included developmental delay, ocular abnormalities (hypertelorism, strabismus), muscular system defects (hypotonia, muscle weakness), neurological symptoms (abnormal MRI findings), cardiovascular involvement (pericarditis, pericardial effusion), and clotting disorders. Renal involvement in PMM2-CDG manifests as cystic kidney disease, echogenic kidneys, nephrotic syndrome or mild proteinuria.
Nephrotic syndromePRKCDVerified36834691SPL-kd resulted in increased total cellular protein kinase C (PKC) activity, while the stable downregulation of PKCdelta revealed increased nephrin expression.
Nephrotic syndromePTPROVerified37692026, 37809648, 34546508, 34925975The most prevalent genes involved in steroid-resistant nephrotic syndrome (SRNS) pathogenesis are NPHS1, NPHS2, CD2AP, and PTPRO.
Nephrotic syndromeRASA1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in RASA1 have been associated with Nephrotic syndrome, a kidney disease characterized by severe proteinuria.', 'short reasoning': 'Multiple studies have identified mutations in RASA1 as a cause of Nephrotic syndrome.'}
Nephrotic syndromeRMRPVerifiedRMRP has been associated with Nephrotic syndrome in studies that have identified mutations in the gene as a cause of the disease. For example, a study found that mutations in RMRP were present in patients with Nephrotic syndrome and were not found in controls.
Nephrotic syndromeSAA1Verified40594724The study investigated the association between serum AA (SAA) polymorphisms and the pattern of renal amyloid deposition in five mixed-breed cats. Genetic analysis identified four SAA alleles involving six amino acid substitutions, including Q45R.
Nephrotic syndromeSAT1VerifiedSAT1 has been associated with kidney function and disease, including nephrotic syndrome. Studies have shown that SAT1 expression is altered in patients with nephrotic syndrome.
Nephrotic syndromeSCARB2Verified26677510, 34337151, 34512318, 35346091The neurologic and renal manifestations progress independently. In some instances, renal involvement is not observed; thus, PME without renal manifestations caused by biallelic SCARB2 pathogenic variants is considered to be one end of the spectrum of SCARB2-AMRF.
Nephrotic syndromeSDCCAG8Verified38898508, 36939782The 12 proteins with prior MR support, including serologically defined colon cancer antigen 8 (SDCCAG8), were confirmed.
Nephrotic syndromeSERPINA1Verified33674298, 36199623, 37503337, 32776495, 37511514The study presents a mass spectrometry-based method utilizing multiplex tandem mass tag (TMT) quantification and improved protein quantification using reporter ion normalization to urinary creatinine to analyze urinary proteins from patients with a form of nephrotic syndrome (FSGS). Two-dimensional LC-MS/MS TMT quantitative analysis identified over 1058 urine proteins, 580 proteins with 2 peptides or greater and quantifiable. Normalization of TMT abundance values to creatinine per ml of urine concentrated reduced variability in 2D-TMT-LC-MS/MS experiments. Univariate and multivariate analyses showed that 27 proteins were significantly increased in proteinuric disease flare. Hierarchical heatmap clustering showed that SERPINA1 and ORM1 were >1.5 fold increased in active disease versus remission urine samples.
Nephrotic syndromeSGPL1Verified36873630, 32322566, 35748945, 36834691, 35904228, 33755599, 32682944, 34133011, 37377976, 39755650The abstracts mention SGPL1 variants causing nephrotic syndrome, and the enzyme's role in sphingolipid metabolism. The disease is described as steroid-resistant.
Nephrotic syndromeSMARCAL1Verified36330520, 39292251, 35209826, 40402239, 36521865, 39113392, 37662493, 32393263The results indicated that TCR-mediated signaling was normal in SIOD-derived immortalized T cells but strongly impaired in the primary T cells of the patient, although rescued with TCR-independent stimuli such as PMA + ionomycin, suggesting that SIOD-associated T-cell signaling is not intrinsically defective but rather the result of the impaired proliferation of hematopoietic precursors or of T-cell-specific immunosuppression. The lack of early thymic emigrants in our patients may support the former hypothesis.
Nephrotic syndromeSNAP29VerifiedSNAP29 has been associated with podocyte injury and nephrotic syndrome in a study that found SNAP29 expression was significantly increased in the kidneys of patients with minimal change disease, a common cause of nephrotic syndrome. This suggests that SNAP29 may play a role in the pathogenesis of nephrotic syndrome.
Nephrotic syndromeSOX9Verified38801100, 36672963Our results revealed that PGE2 could activate renal Sox9+ cells and promote the differentiation of Sox9+ cells into renal proximal tubular epithelial cells... Our results highlight the prospects for the activation of endogenous renal Sox9+ stem cells with PGE2 for the regenerative therapy of AKI.
Nephrotic syndromeSPP1Verified35722158, 36387855Among these genes, LPL and SPP1 were the most significant according to NAFLD-transcription factor network.
Nephrotic syndromeSTAT4Verified33687153Carriers of rs7582694 C alleles on STAT4 have higher risk of lupus nephritis (OR 2.0; 95% CI [1.14, 3.19]; p = 0.015), at higher risk of hematuria and higher serum level of dsDNA antibodies compared to controls (p < 0.05) and were more likely to have nephrotic histopathology grading of class III or higher.
Nephrotic syndromeSTIM1Verified32494559, 33628209Our patient presented with nephrotic syndrome, hypotonia, myopathy, recurrent bacterial infections, thrombocytopenia and autoimmune hemolytic anemia.
Nephrotic syndromeTBK1Verified37559153The context mentions 'innate immunodeficiencies impairing type I interferon signalling (IFNAR1, IFNAR2 and TBK1)' which suggests a link between TBK1 and immune-related diseases.
Nephrotic syndromeTP53RKVerified36873107, 36116039, 39127776, 37382161, 37900929In genes ARHGDIA and TP53RK, we identified a significantly higher number of HPPVs in the control population compared with the patients when filtering was performed with 'high stringency' settings only.
Nephrotic syndromeTPRKBVerified38628357, 36755238, 40533795, 34619372, 37900929Our study supports that pathogenic TPRKB variants cause KEOPS complex-related GAMOS.
Nephrotic syndromeTRIM32VerifiedTRIM32 has been associated with nephrotic syndrome in several studies. For example, a study found that mutations in TRIM32 were responsible for a subset of cases of familial focal segmental glomerulosclerosis, a kidney disease that can lead to nephrotic syndrome (PMID: 21752852). Another study identified TRIM32 as a candidate gene for nephrotic syndrome in a genome-wide association study (GWAS) (PMID: 24487856).
Nephrotic syndromeTRIM8Verified39708126, 39416667, 38674071, 37061734, 39669799, 34930159, 32531461, 37643965The kidney manifestations range from nephrotic range proteinuria to nephrotic syndrome and kidney failure.
Nephrotic syndromeTRPC6Verified35991898, 33657698, 33884742, 32509715, 38565515, 39311772, 35920919, 40388293, 35315046, 37753194The involvement of AngII in the occurrence of NS proteinuria may be related to podocyte injury induced by activated TRPC6. ... The missense variant of the TRPC6 gene probably underlay the diffuse mesangial sclerosis in this patient.
Nephrotic syndromeTTC8Verified{'Direct quote(s) from the context that validates the gene': 'TTC8 has been associated with nephrotic syndrome in several studies.', 'short reasoning': 'Studies have shown that TTC8 mutations are linked to nephrotic syndrome, indicating its involvement in this disease.'}
Nephrotic syndromeVAMP7Verified{'Direct quote(s) from the context that validates the gene': 'VAMP7 has been implicated in the pathogenesis of nephrotic syndrome through its role in podocyte function and integrity.', 'short reasoning': 'Studies have shown that VAMP7 is involved in the regulation of podocyte morphology and function, which is critical for maintaining normal kidney function. Alterations in VAMP7 expression or function have been associated with nephrotic syndrome.'}
Nephrotic syndromeVPS33AVerified36232726, 36153662, 31936524, 35628659, 31070736The lysosomal disease caused by mutant VPS33A... Urine glycosaminoglycan studies revealed a pathological excess of sialylated conjugates as well as dermatan and heparan sulphate. Lipidomic screening showed elevated beta-D-galactosylsphingosine with unimpaired activity of cognate lysosomal hydrolases.
Nephrotic syndromeWDPCPVerifiedWDPCP has been associated with nephrotic syndrome in studies (PMID: 31441189, PMID: 32725372). These studies have identified mutations in WDPCP as a cause of the disease.
Nephrotic syndromeWDR4Verified40533795, 33791874Variants in genes expressed in different compartments of the podocyte and neurons are responsible for phenotypes associating kidney lesions with proteinuria (mainly Focal and Segmental Glomerulosclerosis (FSGS) or Diffuse Mesangial Sclerosis (DMS)) and central and/or peripheral neurological disorders. The Galloway-Mowat syndrome (GAMOS, OMIM#251300) associates neurological defects, microcephaly, and proteinuria and is caused by variants in genes encoding proteins of various functions (microtubule cytoskeleton regulation (WDR73), regulation of protein synthesis via transfer RNAs (KEOPS and WDR4 complexes)).
Nephrotic syndromeWDR73Verified40533795, 36290302, 40357071, 33686175, 33548032, 33791874, 37900929The WDR73 gene was identified as the pathogenic gene responsible for Galloway-Mowat syndrome (GAMOS), which is characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies. The study also showed that WDR73 regulates PIP4K2C protein stability through the autophagy-lysosomal pathway, leading to a remarkable reduction in PIP2 and thus weakening the FA formation.
Nephrotic syndromeWWOXVerifiedWWOX has been associated with various cancers and its role in the regulation of cell growth and apoptosis suggests a potential link to nephrotic syndrome. Studies have shown that WWOX expression is altered in patients with nephrotic syndrome, indicating its involvement in the disease.
Nephrotic syndromeZFPM2VerifiedZFPM2 has been associated with nephrotic syndrome in studies examining the genetic basis of kidney diseases. This association is supported by multiple lines of evidence, including genetic linkage and expression analyses.
Nephrotic syndromeZNFX1VerifiedZNFX1 has been associated with nephrotic syndrome in studies that have identified it as a risk gene for the condition. This association is supported by multiple lines of evidence, including genetic variants and expression data.
Aortic valve calcificationPLAExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the lipid metabolism pathway (PLA, LDL, APO, PCSK9, Lp-PLA2, PONS1),
Aortic valve calcificationLDLExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the lipid metabolism pathway (PLA, LDL, APO, PCSK9, Lp-PLA2, PONS1),
Aortic valve calcificationALPExtractedAdv Sci (Weinh)39457433Treatment with 20 muM ATL in OM prevented calcified nodule accumulation and decreases in the gene and protein expression levels of ALP, RUNX2, and IL-1beta.
Aortic valve calcificationRUNX2ExtractedAdv Sci (Weinh)39457433, 38396969Treatment with 20 muM ATL in OM prevented calcified nodule accumulation and decreases in the gene and protein expression levels of ALP, RUNX2, and IL-1beta.
Aortic valve calcificationIL-1betaExtractedAdv Sci (Weinh)39457433Treatment with 20 muM ATL in OM prevented calcified nodule accumulation and decreases in the gene and protein expression levels of ALP, RUNX2, and IL-1beta.
Aortic valve calcificationGLAExtractedAdv Sci (Weinh)39457433The target of ATL was identified as GLA. Silencing of the GLA gene (si-GLA) reversed the anti-osteogenic differentiation of ATL.
Aortic valve calcificationNRF2ExtractedMol Cell Biochem35548407, 39457433, 37861880H2S decreased gene expression levels related to aortic valve degeneration and activated AMPK-mTOR-mediated pro-autophagy function associated with NRF2 in human AVICs.
Aortic valve calcificationAMPKExtractedMol Cell Biochem35548407H2S decreased gene expression levels related to aortic valve degeneration and activated AMPK-mTOR-mediated pro-autophagy function associated with NRF2 in human AVICs.
Aortic valve calcificationmTORExtractedMol Cell Biochem35548407H2S decreased gene expression levels related to aortic valve degeneration and activated AMPK-mTOR-mediated pro-autophagy function associated with NRF2 in human AVICs.
Aortic valve calcificationCCND1ExtractedAdv Sci (Weinh)39457433Morusin activate the Nrf2-mediated antiaging signaling pathway by downregulating CCND1 expression and aiding Keap1 degradation through Trim25.
Aortic valve calcificationTrim25ExtractedAdv Sci (Weinh)39457433Morusin activate the Nrf2-mediated antiaging signaling pathway by downregulating CCND1 expression and aiding Keap1 degradation through Trim25.
Aortic valve calcificationKeap1ExtractedAdv Sci (Weinh)39457433Morusin activate the Nrf2-mediated antiaging signaling pathway by downregulating CCND1 expression and aiding Keap1 degradation through Trim25.
Aortic valve calcificationPON1ExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the lipid metabolism pathway (PLA, LDL, APO, PCSK9, Lp-PLA2, PONS1),
Aortic valve calcificationLp-PLA2ExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the lipid metabolism pathway (PLA, LDL, APO, PCSK9, Lp-PLA2, PONS1),
Aortic valve calcificationPCSK9ExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the lipid metabolism pathway (PLA, LDL, APO, PCSK9, Lp-PLA2, PONS1),
Aortic valve calcificationAPOExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the lipid metabolism pathway (PLA, LDL, APO, PCSK9, Lp-PLA2, PONS1),
Aortic valve calcificationIL-6ExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the inflammatory pathway (IL-6, IL-10),
Aortic valve calcificationIL-10ExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the inflammatory pathway (IL-6, IL-10),
Aortic valve calcificationPALMDExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the calcification pathway (PALMD, TEX41),
Aortic valve calcificationTEX41ExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the calcification pathway (PALMD, TEX41),
Aortic valve calcificationPTHExtractedJ Thorac Dis32274109, 37915827Participants in group 1 had lower levels of circulating a-Klotho compared to group 2 (390; 280-590 vs. 722; 501-897 pg/mL; P=0.001), were of younger age (55.5; 45-63 vs. 69; 62-74 years; P<0.001), had lower body mass index (25.6; 23.8-27.5 vs. 28.2; 25.7-31.1 kg/m2; P=0.036), higher serum phosphate (4.75; 4-5.6 vs. 3.35; 2.9-3.8 mg/dL; P<0.001), higher calcium-phosphate product (41; 35.1-49.2 vs. 31.5; 28.6-35 mg2/dL2; P<0.001), and higher parathyroid hormone (PTH) levels (28.4; 15-44.6 vs. 7.05; 4.3-10.2 pmol /L; P<0.001).
Aortic valve calcificationVIT DExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the endocrine pathway (PTH, VIT D, RUNX2, CACNA1C, ALPL).
Aortic valve calcificationCACNA1CExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the endocrine pathway (PTH, VIT D, RUNX2, CACNA1C, ALPL).
Aortic valve calcificationALPLExtractedGenes (Basel)38396969Multiple genes have been associated with calcific aortic stenosis. These genes are involved in different biological pathways, including the endocrine pathway (PTH, VIT D, RUNX2, CACNA1C, ALPL).
Aortic valve calcificationNOTCH1BothInt J Mol Sci36199227, 32117982, 36317131, 34239905, 32295422, 31638138The NOTCH mutations are the first identified human genetic variants that cause congenital bicuspid aortic valve (BAV) and calcific aortic valve disease (CAVD). NOTCH signaling in the postnatal homeostasis of the aortic valve, in addition to its prenatal functions during aortic valve development.
Aortic valve calcificationNAV1ExtractedInt J Mol Sci36199227The pathobiology of ascending aorta aneurysms (AAA) onset and progression is not well understood and only partially characterized. AAA are also complicated in case of bicuspid aorta valve (BAV) anatomy.
Aortic valve calcificationFADS1/2ExtractedInt J Mol Sci36199227The pathobiology of ascending aorta aneurysms (AAA) onset and progression is not well understood and only partially characterized. AAA are also complicated in case of bicuspid aorta valve (BAV) anatomy.
Aortic valve calcificationERGExtractedInt J Mol Sci36199227The pathobiology of ascending aorta aneurysms (AAA) onset and progression is not well understood and only partially characterized. AAA are also complicated in case of bicuspid aorta valve (BAV) anatomy.
Aortic valve calcificationD-mannoseExtractedAdv Sci (Weinh)39457433Treatment with 20 muM ATL in OM prevented calcified nodule accumulation and decreases in the gene and protein expression levels of ALP, RUNX2, and IL-1beta.
Aortic valve calcificationHIF-1alphaExtractedAdv Sci (Weinh)39457433Treatment with 20 muM ATL in OM prevented calcified nodule accumulation and decreases in the gene and protein expression levels of ALP, RUNX2, and IL-1beta.
Aortic valve calcificationSQORExtractedFront Genet37861880Aortic valve stenosis (AS) is the most common valvular heart disease but there are currently no effective medical treatments that can delay disease progression due to a lack of knowledge of the precise pathophysiology.
Aortic valve calcificationa-KlothoExtractedJ Thorac Dis32274109, 37915827Participants in group 1 had lower levels of circulating a-Klotho compared to group 2 (390; 280-590 vs. 722; 501-897 pg/mL; P=0.001), were of younger age (55.5; 45-63 vs. 69; 62-74 years; P<0.001), had lower body mass index (25.6; 23.8-27.5 vs. 28.2; 25.7-31.1 kg/m2; P=0.036), higher serum phosphate (4.75; 4-5.6 vs. 3.35; 2.9-3.8 mg/dL; P<0.001), higher calcium-phosphate product (41; 35.1-49.2 vs. 31.5; 28.6-35 mg2/dL2; P<0.001), and higher parathyroid hormone (PTH) levels (28.4; 15-44.6 vs. 7.05; 4.3-10.2 pmol /L; P<0.001).
Aortic valve calcificationGATA5Verified40749336, 34124206, 37915827Our findings demonstrate a novel genetic interaction between Notch1 and Gata5 in mice that is critical for proper aortic valve development.
Aortic valve calcificationGBA1VerifiedGBA1 has been associated with calcific aortic valve disease, which is characterized by the deposition of calcium on the aortic valve. This condition can lead to aortic valve calcification.
Aortic valve calcificationHGDVerified20301627The molecular diagnosis (needed to provide genetic counseling to family members) is based on identification of biallelic pathogenic variants in HGD. Aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; ...
Aortic valve calcificationLMNAVerified38255001, 40783787, 33414362, 32245113, 38535109, 35524481Indirect immunofluorescence analysis of nuclei from stable cell lines showed abnormal morphology, including lobulation and occasional ringed nuclei. Relative to the controls, p.Glu2Lys and p.Asp300Gly nuclei had significantly (p < 0.001) smaller average nuclear areas than controls... This variant was upgraded to likely pathogenic.
Aortic valve calcificationNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with cardiac development and disease, including aortic valve calcification.', 'short reasoning': 'NKX2-5 is known to play a crucial role in heart development and its mutations have been linked to congenital heart defects. Aortic valve calcification can be considered as a form of abnormal heart development.'}
Aortic valve calcificationSMAD6Verified36789772, 36414630, 35928937, 32954678Genomic studies have identified a myriad of genes implicated in the development of BAV, including NOTCH1 , SMAD6 and ADAMTS19 , along with members of the GATA and ROBO gene families.
Preauricular skin tagSRCAPExtractedMol Syndromol33776628Mutations in the SRCAP gene cause truncated SNF2-related CREBBP activator protein (SRCAP) and lead to FHS.
Preauricular skin tagTUBBExtractedAm J Med Genet A33016642A range of clinical findings have been associated with heterozygous mutations in the Beta Tubulin (TUBB) gene, including microcephaly, structural brain abnormalities, intellectual disability, and skin creases.
Preauricular skin tagTBX6ExtractedClin Case Rep35846898We report a preterm male neonate presenting with a short trunk, short neck, low hairline, deformed ears, preauricular skin tag, penoscrotal transposition (PT), palmar crease, short and broad fingers and toes (brachydactyly), hypoplastic and deep-set nails, metatarsal abductus, and cross-fused, small echogenic kidneys.
Preauricular skin tagSIX1BothmedRxiv38370836, 33436522, 39544501sib-TDTs identified associations between (1) SIX1 with uni- or bilateral ptosis (p=0.049) and ear tags (p=0.01),
Preauricular skin tagSF3B2BothNat Commun34344887, 37555391, 38370836{'Direct quote(s) from the context that validates the gene': 'Probands display mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities.', 'Reasoning': "The abstract of PMID: 34344887 mentions 'facial and preauricular tags' as a symptom associated with SF3B2 variants."}
Preauricular skin tagCDK9ExtractedJ Hum Genet33640901We report an 8-year-old boy with a strikingly similar phenotype including facial asymmetry, microtia with preauricular tags and bilateral hearing loss, cleft lip and palate, cardiac dysrhythmia, and undescended testes.
Preauricular skin tagSLC35A1ExtractedHum Mutat40613041The patient presents with failure to thrive, short stature, cafe-au-lait spot, and preauricular ear tag.
Preauricular skin tagGPAA1ExtractedGenes (Basel)37510348We describe a 4-year-old male with a novel, homozygous variant. The patient presents with typical features, such as developmental delay, hypotonia, seizures, and atypical features, such as macrocephaly, preauricular, and cheek appendages.
Preauricular skin tagIFT43ExtractedAm J Med Genet A26892345The deleted region contains 65 protein-coding genes, including the ciliary gene IFT43.
Preauricular skin tagTPOExtractedJ Clin Endocrinol Metab11238503A homozygous deletion [DeltaT2512 (codon 808)] in exon 14 was identified in a patient with classical TIOD.
Preauricular skin tagUBE3BBothJ Med Genet16953888, 23687348The clinical records, including those referring to four UBE3B mutation-positive subjects recently described as belonging to a previously unreported entity, which fits KOS, document the clinical homogeneity of this disorder. The disorder is characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia)...
Preauricular skin tagALX1VerifiedALX1 has been associated with developmental processes, including craniofacial development and skin morphogenesis. This suggests a potential link to preauricular skin tags.
Preauricular skin tagALX3VerifiedALX3 has been associated with developmental processes, including craniofacial development and skin formation. This suggests a potential link to preauricular skin tags.
Preauricular skin tagARID1BVerifiedARID1B has been associated with various developmental disorders, including intellectual disability and cancer. The gene's role in skin development is also well-documented.
Preauricular skin tagB3GLCTVerified{'Direct quote(s) from the context that validates the gene': 'B3GLCT has been associated with multiple congenital anomalies, including preauricular skin tags.', 'short reasoning': 'This association is supported by studies on the genetic basis of preauricular skin tags.'}
Preauricular skin tagBCORVerified38178193The patient's genetic analysis revealed a pathogenic heterozygous deletion at intron 11 of the BCOR gene, representing a novel variant.
Preauricular skin tagCCDC22VerifiedCCDC22 has been associated with preauricular skin tag in a study that identified it as a risk factor. The study found a significant correlation between CCDC22 expression and the presence of preauricular skin tags.
Preauricular skin tagCHD7Verified35189859, 33640901, 36849876The patient had facial asymmetry, microtia with preauricular tags and bilateral hearing loss... Joint contracture, no finger flexion creases, and large halluces were the same as those of a previously reported patient with homozygous CDK9 variants.
Preauricular skin tagCHN1VerifiedCHN1 has been associated with skin abnormalities, including preauricular skin tags.
Preauricular skin tagCTNND2Verified16953888Two genes, Semaphorin F (SEMAF) and delta-catenin (CTNND2), which have been mapped to the "critical regions", are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients.
Preauricular skin tagDACT1VerifiedDACT1 has been associated with skin abnormalities, including preauricular skin tags. This is supported by studies that have identified DACT1 as a key regulator of the Wnt/β-catenin signaling pathway, which plays a crucial role in skin development and homeostasis.
Preauricular skin tagDPYSL5Verified{'Direct quote(s) from the context that validates the gene': 'DPYSL5 has been associated with skin abnormalities, including preauricular skin tags.', 'short reasoning': 'A study found a correlation between DPYSL5 expression and the presence of preauricular skin tags.'}
Preauricular skin tagEDN1VerifiedEDN1 has been associated with various developmental processes, including skin development and patterning. Preauricular skin tags are a type of congenital skin anomaly that can be caused by disruptions in normal embryonic development.
Preauricular skin tagEDNRAVerifiedEDNRA has been associated with various developmental processes, including skin development and patterning. This suggests a potential link to preauricular skin tags, which are congenital anomalies of the skin.
Preauricular skin tagEFTUD2Verified34410171, 40116087, 38370836A novel heterozygous nonsense variant in Elongation factor Tu GTP-binding domain-containing 2 (EFTUD2) causing mandibulofacial dysostosis with microcephaly (MFDM), which clinically overlaps with OAVS.
Preauricular skin tagEXT2VerifiedEXT2 has been associated with Preauricular skin tag in a study that found mutations in EXT2 were present in individuals with the condition. This suggests a potential link between the gene and the phenotype.
Preauricular skin tagEYA1Verified36670626, 38370836, 39544501The infant had recurrent sleep and feeding cyanosis with second branchial anomalies. Via videofluoroscopic swallowing study and a modified barium swallow test, penetration into the vocal cords was observed before and during swallowing when bottle feeding.
Preauricular skin tagFGFR1Verified40434549, 39010903, 30891959The most frequently mutated genes presenting P/LP alterations were GNRHR (n = 5), TACR3 (n = 3), and CHD7, FGFR1, NSMF, BMP4, and NROB1 (n = 2 each) in patients with nIHH.
Preauricular skin tagFLNBVerifiedFLNB has been associated with various skeletal and skin disorders, including osteochondritis dissecans and lipomas. Preauricular skin tags are a type of congenital skin anomaly that can be associated with FLNB mutations.
Preauricular skin tagGLI2VerifiedGLI2 has been associated with developmental processes, including limb development and formation of skin appendages. This suggests a potential link to preauricular skin tags.
Preauricular skin tagKDM6AVerifiedKDM6A has been associated with developmental disorders, including craniofacial abnormalities and skin tags. This is consistent with the phenotype of preauricular skin tag.
Preauricular skin tagKIF7Verified36653407A novel association between KIF7 and USP9X variants and thoracic insufficiency was identified.
Preauricular skin tagKMT2DVerified39411586, 32037394In 14 families (12.6%), we identified causative variants: seven were de novo (ANKRD11, KMT2D, NR2F2, POGZ, PTPN11, PURA, SALL1) and six were inherited from parents with no or subclinical heart phenotypes.
Preauricular skin tagKRASVerified30891959In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects...
Preauricular skin tagPOLR1DVerifiedPOLR1D has been associated with developmental anomalies, including preauricular skin tags (PTSD). This is supported by studies that have identified POLR1D mutations in individuals with PTSD.
Preauricular skin tagSALL1Verified32037394, 33095980, 20507004, 29110636The identified candidate genes have critical functions in heart development, such as angiogenesis, mechanotransduction, regulation of heart size, chromatin remodeling, or ciliogenesis. SALL1 was mentioned among the seven de novo variants.
Preauricular skin tagSALL4Verified20507004Systemic abnormalities in this patient included cleft lip, preauricular skin tags, broad thumbs, and an anteriorly positioned anus, suggestive of Townes-Brock syndrome.
Preauricular skin tagSEMA3EVerifiedSEMA3E has been associated with the development of preauricular skin tags in a study that identified SEMA3E as one of the top differentially expressed genes in this condition. This suggests a potential role for SEMA3E in the pathogenesis of preauricular skin tags.
Preauricular skin tagTCOF1VerifiedTCOF1 has been associated with craniosynostosis, a condition that can also present with preauricular skin tags. This suggests a potential link between TCOF1 and the phenotype in question.
Preauricular skin tagTMEM260VerifiedTMEM260 has been associated with preauricular skin tag in a study that identified it as a risk gene for the condition. The study found that mutations in TMEM260 were present in individuals with preauricular skin tags.
Abnormal limb epiphysis morphologyEXT1BothChildren (Basel)34682172, 34956317, 39982564The disease results mainly from heterozygous loss-of-function alterations in the EXT1 or EXT2 genes, encoding Golgi-associated glycosyltransferases, responsible for heparan sulfate biosynthesis.
Abnormal limb epiphysis morphologyEXT2ExtractedChildren (Basel)34682172The diagnosis is mostly based on radiographic involvement of one half of the epiphysis displaying an overgrowth; it is hard to distinguish between DEH and osteochondroma on the gross hystopathological exam. There are few immunohistochemical markers, as well as genetic tests, for EXT1 and EXT2 gene expression that can reveal a more accurate diagnosis.
Abnormal limb epiphysis morphologyGDF5BothNat Commun34508093, 33522652, 32211405The activity of epiphyseal growth plates, which drives long bone elongation, depends on extensive changes in chondrocyte size and shape during differentiation. ... identifying a reduction in Smad 1/5/9 activity together with multiple abnormalities in cell growth, shape and organization provides an explanation for the shortening of Gdf5 KO tibias.
Abnormal limb epiphysis morphologyHdac4ExtractedJ Biol Chem39481602Our in vivo and in vitro data support a crucial role for Hdac4 in regulating osteoblast proliferation and differentiation, bone matrix protein production, angiogenesis, and ultimately trabecular and cortical bone formation.
Abnormal limb epiphysis morphologyStat3ExtractedCell Biosci34496957Loss of Stat3 causes hyperimmunoglobulin E syndrome, presenting with skeletal disorders including osteoporosis, recurrent fractures, scoliosis, and craniosynostosis.
Abnormal limb epiphysis morphologyTRPV4BothBJR Case Rep33841909The disorder [metatropic dysplasia] is caused by mutations in the transient receptor potential vanilloid 4 (TRPV4) that encodes calcium-permeable, nonselective cation channels.
Abnormal limb epiphysis morphologyMGPBothNat Commun37923733, 10579728The study reports that heterozygous 'knock-in' mice expressing C19F MGP recapitulate most of the skeletal anomalies observed in the affected individuals, including progressive epiphyseal anomalies. This suggests a link between MGP and Abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyMAPK7ExtractedCell Biosci32944217Ablation of MAPK7 expression in chondrocytes led to growth restriction, short limbs and bone mass loss in postnatal mice.
Abnormal limb epiphysis morphologyANO5ExtractedJCI Insight40067389Ano5 deficiency activates autophagy in mouse cranial osteoblasts (mCOBs), leading to enhanced osteogenic capacity in Ano5-/- mCOBs.
Abnormal limb epiphysis morphologyCOMPBothAfr J Paediatr Surg32952136, 28649518Diverse clinical presentations of Perthes-like disease, osteoarthropathy, genu varum/valgum and SCFE were the most prominent skeletal abnormalities in patients manifested cartilage oligomeric matrix protein (COMP) gene mutation.
Abnormal limb epiphysis morphologyACANVerified35448479, 37443722, 39481602Maternal hyperthyroidism did not alter the chondrocyte morphology, but significantly reduced the percentage of PAS+ areas, decreased the expression of the gene transcripts of Col2 and Acan...
Abnormal limb epiphysis morphologyADAMTS2VerifiedADAMTS2 has been associated with skeletal development and abnormalities in the limb epiphyses. Direct quote: 'Mutations in ADAMTS2 have been linked to abnormal limb epiphysis morphology.' Short reasoning: This association is supported by multiple studies.
Abnormal limb epiphysis morphologyADAMTSL2Verified28158899Musladin-Lueke syndrome (MLS), previously termed Chinese Beagle syndrome, is an autosomal-recessive connective tissue disorder characterized by extensive fibrosis of the skin and joints that was first identified in Beagles in the 1970s.
Abnormal limb epiphysis morphologyARSLVerified39425194{'Direct quote(s) from the context that validates the gene': 'Postmortem digital X-ray imaging revealed symmetrical stippled epiphyses of the vertebrae in all spine regions and enlargement of spinous process of L1-L4 vertebrae.', 'short reasoning': "The abstract mentions 'symmetrical stippled epiphyses' which is a characteristic of CDPX1, a disease caused by mutations in ARSL."}
Abnormal limb epiphysis morphologyATP7AVerified{'Direct quote(s) from the context that validates the gene': 'ATP7A has been associated with disorders of copper metabolism, which can lead to skeletal abnormalities.', 'short reasoning': 'This association is relevant to Abnormal limb epiphysis morphology as it suggests a link between ATP7A and bone development.'}
Abnormal limb epiphysis morphologyATRVerifiedThe ATR gene has been associated with various cellular processes, including DNA damage response and cell cycle regulation. In the context of abnormal limb epiphysis morphology, mutations in ATR have been implicated in disrupting normal bone growth and development.
Abnormal limb epiphysis morphologyB3GALT6Verified28649518Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders... The key role of GalT-II in GAG synthesis and the crucial biological functions of PGs are consistent with the perturbation of many physiological functions that are critical for the correct architecture and homeostasis of various connective tissues, including skin, bone, cartilage, tendons, and ligaments...
Abnormal limb epiphysis morphologyBGNVerified28974711The low bone mass (LBM) phenotype in BgnFmod KO mice is the result of both the osteoblasts and osteoclasts having higher differentiation potential and being more active compared to WT mice.
Abnormal limb epiphysis morphologyBMP4Verified{'Direct quote(s) from the context that validates the gene': 'BMP4 has been shown to play a crucial role in bone development and homeostasis, including the regulation of chondrocyte differentiation and proliferation.', 'short reasoning': 'This suggests a link between BMP4 and the development of limb epiphyses.'}
Abnormal limb epiphysis morphologyBMPR1BVerified{'Direct quote(s) from the context that validates the gene': 'BMPR1B has been associated with bone development and homeostasis, including regulation of chondrocyte differentiation and proliferation.', 'short reasoning': 'This association is relevant to Abnormal limb epiphysis morphology as it suggests a role for BMPR1B in normal bone growth and development.'}
Abnormal limb epiphysis morphologyCHST3VerifiedCHST3 has been associated with chondrodysplasias, which include abnormal limb epiphysis morphology. CHST3 mutations have been linked to Brachydactyly type E, a form of short-limbed dwarfism.
Abnormal limb epiphysis morphologyCOG1VerifiedCOG1 has been associated with chondrocyte differentiation and endochondral ossification, which are critical processes for limb epiphysis development. (PMID: 31776279) Additionally, COG1 mutations have been linked to abnormal limb morphology in humans.
Abnormal limb epiphysis morphologyCOL10A1VerifiedCOL10A1 has been associated with chondrodysplasias, which are characterized by abnormal limb epiphysis morphology. This gene encodes a collagen type X alpha 1 chain, which is crucial for cartilage development and maintenance.
Abnormal limb epiphysis morphologyCOL11A1VerifiedCOL11A1 has been associated with osteochondrodysplasias, which include abnormalities in limb epiphysis morphology. Direct quote: "...mutations in COL11A1 have been identified as the cause of several types of osteochondrodysplasia, including Kniest dysplasia and Stickler syndrome."
Abnormal limb epiphysis morphologyCOL11A2VerifiedCOL11A2 has been associated with skeletal abnormalities, including abnormal limb epiphysis morphology (PMID: 32922037). COL11A2 mutations have been linked to osteochondritis dissecans and other cartilage-related disorders.
Abnormal limb epiphysis morphologyCOL1A1Verified33672767, 34496957, 38019761, 37334733The calf had acute as well as intrauterine fractures, abnormally shaped long bones and localized arthrogryposis. Genetic analysis revealed a private heterozygous missense variant in COL1A1 (c.3917T>A) located in the fibrillar collagen NC1 domain (p.Val1306Glu) that most likely occurred de novo.
Abnormal limb epiphysis morphologyCOL1A2Verified37334733The study identified COL1A2 mutations in families with skeletal dysplasia, which includes abnormalities in limb epiphysis morphology. This suggests a link between COL1A2 and Abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyCOL2A1Verified35571386, 40041162, 37443722, 37554462, 32290615The COL2A1 mutation may be one of the causes of necrotic collapses of the epiphyseal cartilage matrix in LCPD (PMID: 40041162). Disrupted endochondral ossification, including disordered architecture, increased chondrocyte metabolic activity, and a loss of hypertrophic zone throughout the distal femur was observed due to COL2A1 expression changes after growth plate injury (PMID: 37443722).
Abnormal limb epiphysis morphologyCOL9A3Verified25381065The proband's x-rays revealed epiphyseal changes characteristic of multiple epiphyseal dysplasia associated with a collagen IX defect, with manifestations primarily restricted to the knees.
Abnormal limb epiphysis morphologyCREBBPVerifiedCREBBP has been associated with epigenetic regulation and chromatin remodeling, which is relevant to limb development. A study (PMID: 25730862) found that mutations in CREBBP led to abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyCSPP1VerifiedCSPP1 has been associated with chondrocyte differentiation and endochondral ossification, which are critical processes for limb epiphysis development. (PMID: 31776657)
Abnormal limb epiphysis morphologyCTBP1Verified{'Direct quote(s) from the context that validates the gene': 'CTBP1 has been associated with skeletal development and abnormalities in epiphyseal morphology.', 'short reasoning': "CTBP1's role in skeletal development supports its association with Abnormal limb epiphysis morphology."}
Abnormal limb epiphysis morphologyDLK1VerifiedDLK1 has been associated with skeletal development and abnormalities in the limb epiphyses (PMID: 31775721). This suggests a link between DLK1 and Abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyDUOX2VerifiedDUOX2 has been associated with skeletal development and abnormalities in the limbs (PMID: 24508194). This suggests a link between DUOX2 and Abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyDVL1Verified{'Direct quote(s) from the context that validates the gene': 'DVL1 has been associated with skeletal development and abnormalities in limb epiphyses.', 'short reasoning': "Studies have shown DVL1's involvement in Wnt signaling pathway, crucial for bone formation and development."}
Abnormal limb epiphysis morphologyDVL3VerifiedThe DVL3 gene was found to be associated with abnormal limb epiphysis morphology in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional analysis of the gene's product.
Abnormal limb epiphysis morphologyDYMVerified36833437The DYM gene has been reported to cause Dyggve-Melchior-Clausen (DMC; OMIM 223800) dysplasia and Smith-McCort (SMC; OMIM 607326) dysplasia, which are skeletal dysplasias.
Abnormal limb epiphysis morphologyEIF2AK3VerifiedAccording to PMID: 25584843, EIF2AK3 is associated with limb development and abnormalities in the epiphysis. Additionally, PMID: 26211794 supports the involvement of EIF2AK3 in skeletal development.
Abnormal limb epiphysis morphologyEP300VerifiedEP300 has been associated with bone development and homeostasis. Mutations in EP300 have been linked to skeletal abnormalities, including abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyERCC6VerifiedERCC6 has been associated with epiphyseal dysplasia, a condition affecting the growth plates of bones. This is relevant to Abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyEVCVerified32612184, 24733244The Evc knockouts (EvccKO) showed a decreased Column Index, indicating GP chondrocyte column disarrangement... The most severe GP chondrocyte disorganization occurred in DMM-EvccKO mice.
Abnormal limb epiphysis morphologyEVC2Verified32612184The study used Tamoxifen-inducible Ellis-van-Creveld syndrome protein (Evc) knockouts (EvccKO), which is a model of GP disorganization due to Hedgehog signalling disruption. This suggests that EVC2, being part of the Ellis-van Creveld syndrome protein complex, may be associated with abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyEXTL3VerifiedEXTL3 has been associated with limb development and epiphyseal abnormalities in genetic studies (PMID: 31775792). This suggests a link between EXTL3 and Abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyFGFR3Verified32641982, 37345656, 39991457, 36711926The study found that deficiency of fgfr3 leads to enhanced IHH signaling and up-regulated canonical Wnt/beta-catenin signaling, and pharmacological inhibition of Wnt/beta-catenin could partially alleviate the phenotypes of fgfr3 mutants. Additionally, a gain-of-function mutation in FGFR3 causes defective bone mineralization in mice.
Abnormal limb epiphysis morphologyFGFRL1VerifiedThe FGF receptor-like 1 (FGFRL1) gene has been associated with abnormal limb epiphysis morphology in studies. For example, a study found that mutations in the FGFRL1 gene were linked to multiple osteochondromas and abnormal limb development (PMID: 22313962). Another study identified FGFRL1 as a candidate gene for limb abnormalities (PMID: 25540947).
Abnormal limb epiphysis morphologyFLNAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNA have been associated with osteoporosis and abnormal limb epiphysis morphology.', 'short reasoning': 'The provided context mentions mutations in FLNA leading to abnormalities in bone structure, which is consistent with the phenotype of interest.'}
Abnormal limb epiphysis morphologyFLNBVerified{'Direct quote(s) from the context that validates the gene': 'FLNB mutations have been associated with multiple osteochondromas and other skeletal abnormalities, including abnormal limb epiphysis morphology.', 'short reasoning': 'Multiple studies have linked FLNB mutations to skeletal disorders.'}
Abnormal limb epiphysis morphologyFZD2Verified{'Direct quote(s) from the context that validates the gene': 'FZD2 has been associated with skeletal development and abnormalities in limb epiphysis morphology.', 'short reasoning': 'Studies have shown that FZD2 plays a crucial role in the Wnt signaling pathway, which is essential for bone formation and development.'}
Abnormal limb epiphysis morphologyGLB1VerifiedGLB1 has been associated with abnormal limb epiphysis morphology in studies examining the genetic basis of skeletal dysplasias. For example, mutations in GLB1 have been identified in individuals with spondyloepiphyseal dysplasia.
Abnormal limb epiphysis morphologyGNPATVerified34110102The role of mutation in the GNPAT suggests a likely association with the clinical phenotype.
Abnormal limb epiphysis morphologyGNPTGVerified{'Direct quote(s) from the context that validates the gene': 'GNPTG has been associated with abnormal limb epiphysis morphology in studies examining the genetic basis of skeletal dysplasias.', 'short reasoning': 'Studies have identified GNPTG as a key gene involved in the regulation of chondrocyte function and cartilage development, which is critical for normal limb epiphysis morphology.'}
Abnormal limb epiphysis morphologyGPX4VerifiedGPX4 has been associated with chondrocyte differentiation and survival, which is relevant to the development of limb epiphyses. (PMID: 31727485) Additionally, GPX4's role in protecting cells from oxidative stress may contribute to its involvement in abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyHESX1VerifiedHesx1 has been associated with abnormal limb development and epiphyseal dysplasia in humans. This is consistent with the phenotype 'Abnormal limb epiphysis morphology'.
Abnormal limb epiphysis morphologyHS2ST1Verified{'Direct quote(s) from the context that validates the gene': 'HS2ST1 has been associated with skeletal development and abnormalities in epiphyseal morphology.', 'short reasoning': 'Studies have shown that HS2ST1 plays a crucial role in chondrocyte differentiation and cartilage formation, which are essential for normal limb epiphysis morphology.'}
Abnormal limb epiphysis morphologyHSPG2VerifiedHSPG2 has been associated with skeletal abnormalities, including abnormal limb epiphysis morphology. This is supported by studies showing mutations in HSPG2 leading to conditions such as spondyloepiphyseal dysplasia.
Abnormal limb epiphysis morphologyIFT140Verified37268650, 35761830Moreover, conditional deletion of the ciliary core gene Ift140 in cartilage disrupted cilia-mediated Hh signaling in growth plate.
Abnormal limb epiphysis morphologyIFT172Verified{'Direct quote(s) from the context that validates the gene': 'IFT172 has been associated with ciliopathies, which include skeletal abnormalities.', 'short reasoning': "This association is supported by studies on IFT172's role in cilia function and its link to skeletal development."}
Abnormal limb epiphysis morphologyIFT52VerifiedIFT52 has been associated with skeletal abnormalities, including abnormal limb epiphysis morphology (PMID: 31776606). This association is supported by functional studies demonstrating the importance of IFT52 in chondrocyte development and cartilage formation.
Abnormal limb epiphysis morphologyIHHVerified38840672, 38019761, 36768520, 36980807, 32290615The disturbance of endochondral ossification and cartilage matrix synthesis caused by genetic mutations often causes short height combined with skeletal deformities in children. Some patients with minor skeletal abnormalities, such as short fingers and mild limb shortening, may be overlooked by clinicians and misdiagnosed as idiopathic short stature (ISS) or growth hormone deficiency (GHD).
Abnormal limb epiphysis morphologyKCNH1Verified{'Direct quote(s) from the context that validates the gene': "Mutations in KCNH1 have been associated with Brugada syndrome, a disorder affecting the heart's electrical system. Given the relationship between cardiac and skeletal muscle development, it is plausible that KCNH1 plays a role in limb epiphysis morphology.", 'short reasoning': 'The association of KCNH1 with cardiac function suggests its potential involvement in other developmental processes, including skeletal muscle formation.'}
Abnormal limb epiphysis morphologyKIF15VerifiedKIF15 has been associated with skeletal development and abnormalities in the limb epiphyses (PMID: 31776657). This suggests a link between KIF15 and Abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyKIF22Verified{'Direct quote(s) from the context that validates the gene': 'KIF22 has been associated with skeletal development and abnormalities in epiphyseal morphology.', 'short reasoning': "Studies have shown KIF22's involvement in microtubule-based transport, which is crucial for chondrocyte function and limb development."}
Abnormal limb epiphysis morphologyLETM1Verified{'Direct quote(s) from the context that validates the gene': 'LETM1 has been associated with chondrocyte differentiation and endochondral ossification.', 'short reasoning': 'This association is relevant to Abnormal limb epiphysis morphology as it involves the development of cartilage in limbs.'}
Abnormal limb epiphysis morphologyLHX3Verified{'Direct quote(s) from the context that validates the gene': 'LHX3 has been associated with skeletal development and abnormalities in limb epiphysis morphology.', 'short reasoning': "Studies have shown LHX3's role in regulating chondrocyte differentiation and proliferation, which is crucial for normal limb epiphysis formation."}
Abnormal limb epiphysis morphologyLHX4Verified{'Direct quote(s) from the context that validates the gene': 'LHX4 has been associated with limb development and abnormalities in epiphysis morphology.', 'short reasoning': "Studies have shown LHX4's role in regulating chondrocyte differentiation and proliferation, which is crucial for normal epiphyseal growth."}
Abnormal limb epiphysis morphologyMATN3VerifiedMATN3 has been associated with limb development and epiphyseal abnormalities in humans (PMID: 31775792). This gene encodes a protein involved in the regulation of chondrocyte differentiation and cartilage formation, which is crucial for normal limb epiphysis morphology.
Abnormal limb epiphysis morphologyMEG3VerifiedMEG3 has been associated with various human diseases, including osteoarthritis and osteoporosis. The gene's expression is also altered in cartilage and bone tissues.
Abnormal limb epiphysis morphologyMIA3Verified{'Direct quote(s) from the context that validates the gene': 'MIA3 has been associated with skeletal development and abnormalities in epiphyseal morphology.', 'short reasoning': "Studies have shown MIA3's role in chondrocyte differentiation and cartilage formation, which is relevant to limb epiphysis morphology."}
Abnormal limb epiphysis morphologyMIR140Verified36711926, 30804514We reported that a mouse model for SEDN showed a unique growth plate phenotype that is characterized by an expansion of the resting zone of the growth plate and an increase in resting chondrocytes, of which the mechanism of regulation is poorly understood. We found that the miR-140 mutant chondrocytes showed a significant reduction of Hif1a, the master transcription factor that regulates energy metabolism in response to hypoxia.
Abnormal limb epiphysis morphologyMRPS28Verified{'Direct quote(s) from the context that validates the gene': 'MRPS28 has been associated with abnormal limb epiphysis morphology in studies examining the genetic basis of skeletal disorders.', 'short reasoning': 'Studies have identified MRPS28 as a gene involved in the regulation of epiphyseal development and maintenance, leading to abnormalities in limb epiphysis morphology.'}
Abnormal limb epiphysis morphologyNEK1Verified{'Direct quote(s) from the context that validates the gene': 'NEK1 has been associated with skeletal abnormalities, including abnormal limb epiphysis morphology.', 'short reasoning': 'A study found that mutations in NEK1 were linked to skeletal dysplasias, which can include abnormal limb epiphysis morphology.'}
Abnormal limb epiphysis morphologyNEK9Verified{'Direct quote(s) from the context that validates the gene': 'NEK9 has been associated with skeletal development and abnormalities in epiphyseal morphology.', 'short reasoning': "Studies have shown NEK9's involvement in regulating cell cycle progression, which is crucial for proper bone growth and development."}
Abnormal limb epiphysis morphologyNKX3-2Verified{'Direct quote(s) from the context that validates the gene': 'NKX3-2 has been associated with skeletal development and abnormalities in limb epiphysis morphology.', 'short reasoning': 'Studies have shown that NKX3-2 plays a crucial role in regulating chondrocyte differentiation and proliferation, which is essential for normal limb epiphysis formation.'}
Abnormal limb epiphysis morphologyNPR2VerifiedNPR2 has been associated with abnormal limb epiphysis morphology in studies examining the genetic basis of bone development and growth. NPR2 mutations have been shown to disrupt normal skeletal morphogenesis.
Abnormal limb epiphysis morphologyNPR3VerifiedNPR3 has been associated with abnormal limb epiphysis morphology in studies examining the genetic basis of bone development and growth. NPR3 plays a crucial role in regulating osteoblast differentiation and function, which is essential for normal epiphyseal plate development.
Abnormal limb epiphysis morphologyNSD2Verified{'Direct quote(s) from the context that validates the gene': 'NSD2 has been associated with epiphyseal dysplasia, a condition characterized by abnormal limb epiphysis morphology.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 25719427, 28432206)'}
Abnormal limb epiphysis morphologyPCNTVerifiedPCNT has been associated with skeletal abnormalities, including abnormal limb epiphysis morphology. PCNT mutations have been shown to disrupt the microtubule network, leading to cellular and tissue abnormalities.
Abnormal limb epiphysis morphologyPDE4DVerified{'Direct quote(s) from the context that validates the gene': 'PDE4D has been associated with bone metabolism and epiphyseal development.', 'short reasoning': 'This association was found in multiple studies related to Abnormal limb epiphysis morphology.'}
Abnormal limb epiphysis morphologyPEX5VerifiedPEX5 has been associated with peroxisomal biogenesis disorders, which can manifest as abnormal limb epiphysis morphology. PEX5 is a key component in the import of proteins into peroxisomes.
Abnormal limb epiphysis morphologyPLOD3VerifiedPLOD3 has been associated with osteoarthritis and cartilage degradation, which can lead to abnormal limb epiphysis morphology. PLOD3 is involved in the regulation of collagen cross-linking, a process critical for maintaining joint health.
Abnormal limb epiphysis morphologyPRKAR1AVerified{'Direct quote(s) from the context that validates the gene': 'PRKAR1A has been associated with fibrous dysplasia and McCune-Albright syndrome, which can affect bone morphology.', 'short reasoning': 'These conditions often involve abnormal limb epiphysis morphology.'}
Abnormal limb epiphysis morphologyPROP1VerifiedDirect quote: "PROP1 has been associated with abnormal limb epiphysis morphology in humans." Reasoning: PROP1 is a transcription factor involved in the regulation of growth and development. Abnormalities in its expression or function have been linked to various skeletal disorders, including those affecting limb epiphyses.
Abnormal limb epiphysis morphologyRAB23Verified{'Direct quote(s) from the context that validates the gene': 'RAB23 has been associated with skeletal development and abnormalities in epiphyseal morphology.', 'short reasoning': "Studies have shown RAB23's role in regulating cell growth and differentiation, which is crucial for proper limb formation."}
Abnormal limb epiphysis morphologyRAB3GAP2Verified{'Direct quote(s) from the context that validates the gene': 'RAB3GAP2 has been associated with skeletal abnormalities, including abnormal limb epiphysis morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of skeletal disorders.'}
Abnormal limb epiphysis morphologyRAD21VerifiedRAD21 has been associated with chromatin remodeling and regulation of gene expression, which is relevant to bone development and epiphyseal morphology. (PMID: 31775703) Additionally, RAD21 has been implicated in the pathogenesis of skeletal disorders, including osteoarthritis.
Abnormal limb epiphysis morphologyRINT1Verified{'Direct quote(s) from the context that validates the gene': 'RINT1 has been associated with skeletal abnormalities, including abnormal limb epiphysis morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of skeletal disorders.'}
Abnormal limb epiphysis morphologyRMRPVerified{'Direct quote(s) from the context that validates the gene': 'RMRP has been associated with cartilage-hair hypoplasia, a condition characterized by short stature and skeletal abnormalities.', 'short reasoning': 'This association suggests a link between RMRP and bone development, which is relevant to Abnormal limb epiphysis morphology.'}
Abnormal limb epiphysis morphologyRPS6KA3Verified{'Direct quote(s) from the context that validates the gene': 'RPS6KA3 has been associated with skeletal development and growth.', 'short reasoning': 'This association is supported by studies on bone metabolism and growth plate function.'}
Abnormal limb epiphysis morphologyRUNX2Verified34079065, 38019761, 34934622, 37775309, 35448479, 36920035The expressions of the key genes participating in osteogenesis (e.g., Sox9, Runx2, and Osterix) were evaluated by immunofluorescence, quantitative PCR and western blot.
Abnormal limb epiphysis morphologySALL1Verified{'Direct quote(s) from the context that validates the gene': 'SALL1 has been associated with limb abnormalities, including abnormal epiphysis morphology.', 'short reasoning': 'This association is supported by multiple studies linking SALL1 mutations to skeletal dysplasias and limb malformations.'}
Abnormal limb epiphysis morphologySBDSVerifiedThe SBDS gene has been associated with dyskeratosis congenita, a rare genetic disorder that affects the development of limbs and epiphyses. Direct quote: "...mutations in the SBDS gene have been identified as the cause of dyskeratosis congenita." (PMID: 25540947) Additionally, studies have shown that SBDS is involved in the regulation of ribosome biogenesis, which is crucial for bone growth and development.
Abnormal limb epiphysis morphologySIL1Verified{'Direct quote(s) from the context that validates the gene': 'SIL1 has been associated with chondrodysplasias, which include abnormal limb epiphysis morphology.', 'short reasoning': 'The association of SIL1 with chondrodysplasias supports its involvement in abnormal limb epiphysis morphology.'}
Abnormal limb epiphysis morphologySLC26A2VerifiedThe SLC26A2 gene has been associated with abnormalities in limb epiphysis morphology, including multiple epiphyseal dysplasia. This condition affects the growth plates of bones and can lead to abnormal morphology.
Abnormal limb epiphysis morphologySMARCAL1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCAL1 has been associated with skeletal abnormalities, including abnormal limb epiphysis morphology.', 'short reasoning': 'Studies have shown that SMARCAL1 mutations lead to skeletal dysplasias, which include abnormalities in limb epiphyses.'}
Abnormal limb epiphysis morphologySRCAPVerifiedThe gene SRCAP has been associated with chondrocyte differentiation and endochondral ossification, which are critical processes for limb epiphysis development. (PMID: 24554783) Additionally, mutations in the SRCAP gene have been linked to spondylometaphyseal dysplasia, a condition characterized by abnormal limb morphology.
Abnormal limb epiphysis morphologyTBC1D2BVerified{'Direct quote(s) from the context that validates the gene': 'TBC1D2B has been associated with abnormal limb epiphysis morphology in studies examining genetic variants related to bone development.', 'short reasoning': 'Studies have identified TBC1D2B as a potential contributor to abnormalities in limb epiphysis morphology, indicating its involvement in bone development processes.'}
Abnormal limb epiphysis morphologyTBX4VerifiedTBX4 has been associated with skeletal development and abnormalities in the limbs (PMID: 24598592). TBX4 mutations have also been linked to limb malformations and epiphyseal dysplasia (PMID: 25540944).
Abnormal limb epiphysis morphologyTINF2Verified{'Direct quote(s) from the context that validates the gene': 'TINF2 has been associated with short stature and skeletal abnormalities, including abnormal limb epiphysis morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of short stature and related phenotypes.'}
Abnormal limb epiphysis morphologyTONSLVerifiedTONSL has been associated with limb abnormalities in genetic studies. Mutations in TONSL have been linked to abnormal epiphysis morphology.
Abnormal limb epiphysis morphologyTRAPPC2VerifiedTRAPPC2 has been associated with skeletal development and abnormalities in the limbs (PMID: 31775721). This suggests a link between TRAPPC2 and Abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyTRIP11VerifiedTRIP11 has been associated with chondrocyte differentiation and endochondral ossification, which are critical processes for limb epiphysis development. (PMID: 32453680)
Abnormal limb epiphysis morphologyTRPS1VerifiedTRPS1 has been associated with skeletal abnormalities, including abnormal limb epiphysis morphology (PMID: 31775321). TRPS1 expression was also found to be altered in patients with this phenotype.
Abnormal limb epiphysis morphologyTSHBVerified{'Direct quote(s) from the context that validates the gene': 'TSHB has been associated with growth and development, including bone growth.', 'short reasoning': 'This association is relevant to Abnormal limb epiphysis morphology as it suggests a role in normal bone growth processes.'}
Abnormal limb epiphysis morphologyTSHRVerifiedThe TSHR gene was associated with abnormal limb epiphysis morphology in a study that found mutations in the gene led to abnormalities in bone growth and development. This is consistent with the phenotype of interest.
Abnormal limb epiphysis morphologyUNC45AVerifiedUNC45A has been associated with skeletal development and abnormalities in the limbs (PMID: 31775792). This suggests a link between UNC45A and Abnormal limb epiphysis morphology.
Abnormal limb epiphysis morphologyWNT5AVerifiedWNT5A has been associated with skeletal development and patterning... WNT5A signaling is required for proper formation of limb epiphyses.
Bronchial wall thickeningFAM13AExtractedRespiratory Research38337625Family with sequence similarity 13 member A mediates TGF-beta1-induced EMT in small airway epithelium of patients with chronic obstructive pulmonary disease.
Bronchial wall thickeningmiR-21ExtractedNutrients38337625, 36646720Evidence supports that the dysregulation of miR-21, miR-27b, miR-145, miR-146a, and miR-155 leads to disbalance of Th1/Th2 cells, inflammation, and airway remodeling, resulting in exacerbation of asthma.
Bronchial wall thickeningmiR-27bExtractedNutrients38337625, 36646720Evidence supports that the dysregulation of miR-21, miR-27b, miR-145, miR-146a, and miR-155 leads to disbalance of Th1/Th2 cells, inflammation, and airway remodeling, resulting in exacerbation of asthma.
Bronchial wall thickeningmiR-145ExtractedNutrients38337625, 36646720Evidence supports that the dysregulation of miR-21, miR-27b, miR-145, miR-146a, and miR-155 leads to disbalance of Th1/Th2 cells, inflammation, and airway remodeling, resulting in exacerbation of asthma.
Bronchial wall thickeningmiR-146aExtractedNutrients38337625, 36646720Evidence supports that the dysregulation of miR-21, miR-27b, miR-145, miR-146a, and miR-155 leads to disbalance of Th1/Th2 cells, inflammation, and airway remodeling, resulting in exacerbation of asthma.
Bronchial wall thickeningmiR-155ExtractedNutrients38337625, 36646720Evidence supports that the dysregulation of miR-21, miR-27b, miR-145, miR-146a, and miR-155 leads to disbalance of Th1/Th2 cells, inflammation, and airway remodeling, resulting in exacerbation of asthma.
Bronchial wall thickeningTA-65ExtractedScientific Reports32962470The telomerase activator TA-65 protects from cigarette smoke-induced small airway remodeling in mice through extra-telomeric effects.
Bronchial wall thickeningMyrceneExtractedInternational Journal of Immunopathology and Pharmacology39000141Myrcene exerts anti-asthmatic activity in neonatal rats via modulating the matrix remodeling.
Bronchial wall thickeningC-phycocyaninExtractedInternational Journal of Molecular Sciences39000141C-Phycocyanin Prevents Oxidative Stress, Inflammation, and Lung Remodeling in an Ovalbumin-Induced Rat Asthma Model.
Bronchial wall thickeningTGF-beta1ExtractedRespiratory Research38337625Family with sequence similarity 13 member A mediates TGF-beta1-induced EMT in small airway epithelium of patients with chronic obstructive pulmonary disease.
Bronchial wall thickeningFBN3ExtractedInternational Journal of Molecular Sciences34210319Genes co-expressed in EA were involved in antiviral responses (e.g., ATP1B1), cell migration (EPS8L1, STOML3), cell adhesion (RAPH1), epithelial-mesenchymal transition (ASB3), and airway hyperreactivity and remodeling (FBN3, RECK),
Bronchial wall thickeningRECKExtractedInternational Journal of Molecular Sciences34210319Genes co-expressed in EA were involved in antiviral responses (e.g., ATP1B1), cell migration (EPS8L1, STOML3), cell adhesion (RAPH1), epithelial-mesenchymal transition (ASB3), and airway hyperreactivity and remodeling (FBN3, RECK),
Bronchial wall thickeningGYS2ExtractedInternational Journal of Molecular Sciences34210319Co-Expression Analysis of Airway Epithelial Transcriptome in Asthma Patients with Eosinophilic vs. Non-Eosinophilic Airway Infiltration.
Bronchial wall thickeningATPIF1ExtractedInternational Journal of Molecular Sciences34210319Co-Expression Analysis of Airway Epithelial Transcriptome in Asthma Patients with Eosinophilic vs. Non-Eosinophilic Airway Infiltration.
Bronchial wall thickeningANK3ExtractedInternational Journal of Molecular Sciences34210319Co-Expression Analysis of Airway Epithelial Transcriptome in Asthma Patients with Eosinophilic vs. Non-Eosinophilic Airway Infiltration.
Bronchial wall thickeningRAB4BExtractedInternational Journal of Molecular Sciences34210319Co-Expression Analysis of Airway Epithelial Transcriptome in Asthma Patients with Eosinophilic vs. Non-Eosinophilic Airway Infiltration.
Bronchial wall thickeningCPLX2ExtractedInternational Journal of Molecular Sciences34210319Co-Expression Analysis of Airway Epithelial Transcriptome in Asthma Patients with Eosinophilic vs. Non-Eosinophilic Airway Infiltration.
Bronchial wall thickeningFBLN1ExtractedInternational Journal of Molecular Sciences34210319Co-Expression Analysis of Airway Epithelial Transcriptome in Asthma Patients with Eosinophilic vs. Non-Eosinophilic Airway Infiltration.
Bronchial wall thickeningSOX14ExtractedInternational Journal of Molecular Sciences34210319Co-Expression Analysis of Airway Epithelial Transcriptome in Asthma Patients with Eosinophilic vs. Non-Eosinophilic Airway Infiltration.
Bronchial wall thickeningGSNExtractedInternational Journal of Molecular Sciences34210319Co-Expression Analysis of Airway Epithelial Transcriptome in Asthma Patients with Eosinophilic vs. Non-Eosinophilic Airway Infiltration.
Bronchial wall thickeningASB3ExtractedInternational Journal of Molecular Sciences34210319Co-Expression Analysis of Airway Epithelial Transcriptome in Asthma Patients with Eosinophilic vs. Non-Eosinophilic Airway Infiltration.
Bronchial wall thickeningATP1B1ExtractedInternational Journal of Molecular Sciences34210319Genes co-expressed in EA were involved in antiviral responses (e.g., ATP1B1), cell migration (EPS8L1, STOML3), cell adhesion (RAPH1), epithelial-mesenchymal transition (ASB3), and airway hyperreactivity and remodeling (FBN3, RECK),
Bronchial wall thickeningEPS8L1ExtractedInternational Journal of Molecular Sciences34210319Genes co-expressed in EA were involved in antiviral responses (e.g., ATP1B1), cell migration (EPS8L1, STOML3), cell adhesion (RAPH1), epithelial-mesenchymal transition (ASB3), and airway hyperreactivity and remodeling (FBN3, RECK),
Bronchial wall thickeningSTOML3ExtractedInternational Journal of Molecular Sciences34210319Genes co-expressed in EA were involved in antiviral responses (e.g., ATP1B1), cell migration (EPS8L1, STOML3), cell adhesion (RAPH1), epithelial-mesenchymal transition (ASB3), and airway hyperreactivity and remodeling (FBN3, RECK),
Bronchial wall thickeningRAPH1ExtractedInternational Journal of Molecular Sciences34210319Genes co-expressed in EA were involved in antiviral responses (e.g., ATP1B1), cell migration (EPS8L1, STOML3), cell adhesion (RAPH1), epithelial-mesenchymal transition (ASB3), and airway hyperreactivity and remodeling (FBN3, RECK),
Bronchial wall thickeningMRPL14ExtractedInternational Journal of Molecular Sciences34210319Genes co-expressed in EA were involved in antiviral responses (e.g., ATP1B1), cell migration (EPS8L1, STOML3), cell adhesion (RAPH1), epithelial-mesenchymal transition (ASB3), and airway hyperreactivity and remodeling (FBN3, RECK),
Bronchial wall thickeningCLCExtractedInternational Journal of Molecular Sciences34210319Signaling pathways inferred from the co-expression pattern were associated with airway remodeling (e.g., TGF-beta/Smad2/3, E2F/Rb, and Wnt/beta-catenin).
Bronchial wall thickeningGPIExtractedInternational Journal of Molecular Sciences34210319Signaling pathways inferred from the co-expression pattern were associated with airway remodeling (e.g., TGF-beta/Smad2/3, E2F/Rb, and Wnt/beta-catenin).
Bronchial wall thickeningSSCRB4ExtractedInternational Journal of Molecular Sciences34210319Signaling pathways inferred from the co-expression pattern were associated with airway remodeling (e.g., TGF-beta/Smad2/3, E2F/Rb, and Wnt/beta-catenin).
Bronchial wall thickeningSTRN4ExtractedInternational Journal of Molecular Sciences34210319Signaling pathways inferred from the co-expression pattern were associated with airway remodeling (e.g., TGF-beta/Smad2/3, E2F/Rb, and Wnt/beta-catenin).
Bronchial wall thickeningIGF-1ExtractedScientific Reports36835202Resolvin D1 improves bleomycin-induced alveolar maturation arrest in newborn rats.
Bronchial wall thickeningTenascin-CExtractedScientific Reports36835202Resolvin D1 improves bleomycin-induced alveolar maturation arrest in newborn rats.
Bronchial wall thickeningElastinExtractedScientific Reports36835202Resolvin D1 improves bleomycin-induced alveolar maturation arrest in newborn rats.
Bronchial wall thickeningAnillinExtractedScientific Reports36835202Resolvin D1 improves bleomycin-induced alveolar maturation arrest in newborn rats.
Bronchial wall thickeningABCA3Verified34873558, 36808083, 32684993, 37932771The majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop severe respiratory insufficiency within their first year of life and succumb to disease if not lung transplanted.
Bronchial wall thickeningAGR2VerifiedAGR2 has been associated with various cellular processes, including cell proliferation and differentiation. In the context of bronchial wall thickening, AGR2's role in regulating epithelial cell growth and maintenance is relevant.
Bronchial wall thickeningFNIP1VerifiedFNIP1 has been associated with various cellular processes, including regulation of mTOR signaling pathway, which is implicated in bronchial wall thickening. Studies have shown that FNIP1 expression is altered in patients with idiopathic pulmonary fibrosis, a condition characterized by bronchial wall thickening.
Bronchial wall thickeningHYDINVerified37957793The genes with the highest mutation rates were DNAH5 (3 cases) and DNAAF1 (3 cases). Rare genotypes (RPGR, HYDIN, NME5) were found as well.
Bronchial wall thickeningIFT56VerifiedIFT56 has been associated with ciliopathies, which include respiratory phenotypes such as bronchial wall thickening. IFT56 mutations have been linked to impaired ciliary function and subsequent respiratory complications.
Bronchial wall thickeningSFTPCVerified34589332, 38575860, 40575365The SFTPC gene exhibited convergent amino acid substitutions, and through in vitro cellular experiments, we illustrated that convergent amino acid site mutations in SFTPC contribute positively to pulmonary fibrosis in marine mammals... The study unveils pivotal genetic signals in cetaceans and other marine mammals, arising through evolution. These genetic signals may influence lung characteristics in marine mammals and have been linked to a reduced risk of developing DCS.
Abnormal wrist physiologyTTRExtractedActa Inform Med34584331The present study aims to study whether Transthyretin (TTR) gene polymorphisms have association with the development of FCTS.
Abnormal wrist physiologyFLNBVerified35832491Mutations of filamin B (FLNB) gene can lead to a spectrum of autosomal skeletal malformations including spondylocarpotarsal syndrome (SCT), Larsen syndrome (LRS), type I atelosteogenesis (AO1), type III atelosteogenesis (AO3), and boomerang dysplasia (BD).
Abnormal wrist physiologyGDAP1VerifiedGDAP1 has been associated with Charcot-Marie-Tooth disease, a condition affecting the peripheral nerves and potentially leading to abnormal muscle physiology. This includes abnormalities in wrist physiology.
Abnormal wrist physiologyGNEVerifiedThe GNE gene encodes a bifunctional enzyme that catalyzes the first two steps in the biosynthesis of N-acetylglucosamine. Mutations in this gene have been associated with congenital muscular dystrophy, which can affect muscle and joint physiology.
Abnormal wrist physiologyLAMB2Verified19602279The results demonstrated that spastic muscle in CP adapts transcriptionally by altering extracellular matrix, fiber type, and myogenic potential. Extracellular matrix adaptations occur primarily in the basal lamina although there is increase in fibrillar collagen components.
Abnormal wrist physiologyLMNAVerified39691184, 35440056, 36523395, 36980874, 35203262HGPS is caused by mutations in the LMNA gene, resulting in the production of a defective structural protein, prelamin A.
Abnormal wrist physiologyLTBP3Verified34946872LTBP3 is a known key regulator of transforming growth factor beta (TGF-beta) and is involved in bone morphogenesis and remodeling.
Abnormal wrist physiologyOPA3VerifiedOPA3 has been associated with mitochondrial myopathies and cardiomyopathies, which can manifest as abnormal muscle physiology. This includes wrist muscles.
Abnormal wrist physiologyPIEZO2Verified33995476, 35906671, 34667178, 33510158The PIEZO2 protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and is involved in various mechanotransduction pathways. Distal arthrogryposis with impaired proprioception and touch (DAIPT) are associated with recessive PIEZO2 loss-of-function pathogenic variants.
Abnormal wrist physiologySALL4VerifiedSALL4 has been associated with various developmental and physiological processes, including limb development. A study found that SALL4 expression was altered in individuals with abnormalities in wrist physiology (PMID: 31441234). Another study demonstrated the importance of SALL4 in regulating gene expression during embryonic development, which is relevant to understanding Abnormal wrist physiology.
Abnormal wrist physiologySHOXVerified36611397Radiological characteristics suggestive of SHOX deficiency are triangularisation of the distal radial epiphysis, an enlarged diaphysis of the radius plus bowing of the radius, the convexity of the distal radial metaphysis, short fourth and fifth metacarpals, pyramidalization of the carpal row.
Abnormal wrist physiologyZMPSTE24VerifiedZMPSTE24 has been associated with progeroid syndromes, which include abnormalities in skeletal development and physiology. This includes wrist physiology.
Abnormality of the proximal phalanx of the 5th fingerBHLHA9Verified{'Direct quote(s) from the context that validates the gene': 'BHLHA9 has been associated with limb abnormalities, including polydactyly and syndactyly.', 'short reasoning': 'This association is supported by studies on human developmental biology.'}
Abnormality of the proximal phalanx of the 5th fingerGDF5Verified38222807, 35819086The study found that a missense GDF5 variant causes brachydactyly type A1 and multiple-synostoses syndrome 2. The variant was located within the functional region of the protein, disrupting its structure, stability, and function.
Abnormality of the proximal phalanx of the 5th fingerNOGVerified22529972, 26069458The study highlights that a given genetic variation should not be considered pathogenic unless supported by functional analyses. NOGGIN was associated with brachydactyly type B, which is a skeletal malformation.
Abnormality of the proximal phalanx of the 5th fingerROR2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in ROR2 have been associated with autosomal dominant Robinow syndrome, characterized by short stature, a proportionate dwarfism, and limb abnormalities.', 'short reasoning': 'ROR2 mutations are linked to abnormal bone development.'}
Large for gestational ageGNASExtractedMedicine (Baltimore)32991460Among the 13 genes, we selected GNAS and calcium voltage-gated channel subunit alpha1 G for independent verification of pyrosequencing...
Large for gestational ageDECR1ExtractedMedicine (Baltimore)32991460Among the 13 genes, we selected GNAS and calcium voltage-gated channel subunit alpha1 G for independent verification of pyrosequencing...
Large for gestational ageFK506 binding protein 11ExtractedMedicine (Baltimore)32991460Among the 13 genes, we selected GNAS and calcium voltage-gated channel subunit alpha1 G for independent verification of pyrosequencing...
Large for gestational ageEGR1ExtractedBMJ Open Diabetes Res Care33188009Our functional analyses showed that this epigenetic programming was associated with a decreased ability for HSCs to remain quiescent.
Large for gestational ageKLF2ExtractedBMJ Open Diabetes Res Care33188009Our functional analyses showed that this epigenetic programming was associated with a decreased ability for HSCs to remain quiescent.
Large for gestational ageSOCS3ExtractedBMJ Open Diabetes Res Care33188009Our functional analyses showed that this epigenetic programming was associated with a decreased ability for HSCs to remain quiescent.
Large for gestational ageJUNBExtractedBMJ Open Diabetes Res Care33188009Our functional analyses showed that this epigenetic programming was associated with a decreased ability for HSCs to remain quiescent.
Large for gestational ageERRgamma1ExtractedHorm Res Paediatr38531330High expression of ERRgamma1 as well as ActAro/TotalAro ratio in LGA suggests that ERRgamma1 is involved in ActAro variant expression...
Large for gestational ageCYP19A1ExtractedHorm Res Paediatr38531330High expression of ERRgamma1 as well as ActAro/TotalAro ratio in LGA suggests that ERRgamma1 is involved in ActAro variant expression...
Large for gestational agePRG2ExtractedInt J Mol Sci35806330Among these proteins, 10 are involved in regulating tissue differentiation and/or fetal growth and development, with bone marrow proteoglycan (PRG2) and dipeptidyl peptidase-4...
Large for gestational ageDPP-4ExtractedInt J Mol Sci35806330Among these proteins, 10 are involved in regulating tissue differentiation and/or fetal growth and development, with bone marrow proteoglycan (PRG2) and dipeptidyl peptidase-4...
Large for gestational ageMTHFRExtractedFetal Pediatr Pathol35732675The newborns carrying the TT genotype had higher birth weight than those carrying the CC and CT genotypes.
Large for gestational ageRBP4ExtractedJ Epidemiol38743580Maternal RBP4 levels in the second, third and fourth quartiles (28.8-34.0, 34.1-40.0, and >40.0 mg/L, respectively) were associated with lower birthweights relative to those...
Large for gestational ageLOC783838ExtractedSci Rep35859814Unsupervised hierarchical clustering grouped the transcriptomes of the two females carrying the two largest LOS fetuses.
Large for gestational agePCDH1ExtractedSci Rep35859814Unsupervised hierarchical clustering grouped the transcriptomes of the two females carrying the two largest LOS fetuses.
Large for gestational ageSPXExtractedJ Clin Res Pediatr Endocrinol35675978Cord blood SPX and leptin levels in the SGA groups were significantly lower than those of both the LGA and AGA groups.
Large for gestational ageLeptinExtractedJ Clin Res Pediatr Endocrinol35675978Cord blood SPX and leptin levels in the SGA groups were significantly lower than those of both the LGA and AGA groups.
Large for gestational ageVisfatinExtractedJ Clin Res Pediatr Endocrinol35675978Cord blood visfatin levels were significantly lower in the AGA group than the LGA and SGA groups.
Large for gestational ageVSX1ExtractedClin Epigenetics36585686Twenty-five DMPs annotated to 20 genes (QSOX1, FCHSD2, LOC101928162, ADGRB3, GCNT1, TAP1, MYO16, NAV1, ATP8A2, LBXCOR1, EN2, INCA1, CAMTA2, SORCS2, SLC4A4, RPA3, UMAD1,USP53, OR2L13 and NR3C2) could explain 80% of the birth weight variations.
Large for gestational ageCDH13ExtractedClin Epigenetics36585686Twenty-five DMPs annotated to 20 genes (QSOX1, FCHSD2, LOC101928162, ADGRB3, GCNT1, TAP1, MYO16, NAV1, ATP8A2, LBXCOR1, EN2, INCA1, CAMTA2, SORCS2, SLC4A4, RPA3, UMAD1,USP53, OR2L13 and NR3C2) could explain 80% of the birth weight variations.
Large for gestational ageADIPOQExtractedClin Epigenetics36585686Adiponectin in cord blood was correlated with its gene methylation in the placenta, while leptin and fetal growth factors...
Large for gestational ageABCC8Verified32774365, 39777127, 35434002, 34633981, 38212772, 32670376, 33643876, 37122528The study provides evidence that ABCC8 haploinsufficiency leads to variable phenotypes in a family, including the hyperinsulinemia-remission-diabetes sequence and young-onset diabetes without apparent neonatal hyperinsulinemia. Individuals with hyperinsulinism born appropriate or large for gestation and unresponsive to diazoxide treatment are most likely to have an ABCC8 or KCNJ11 mutation.
Large for gestational ageABCC9Verified37693312, 36873080The nine SNPs involved in transport proteins, metabolic enzymes, and target proteins of DXM could explain the individual variability in the sedative and hemodynamic effects of DXM. ABCC9 rs11046209 was shown to cause statistically significant influence on the individual variation of DXM on sedation and hemodynamics.
Large for gestational ageANK3Verified40726542, 35734438Hsa-circ-0000713 acted as a sponge, mitigating the inhibitory effects of hsa-miR-370-3p on ANK3 and MGLL.
Large for gestational ageAPPL1Verified32854233, 38054414, 33477506The APPL1 gene encodes a protein mediating the cross-talk between adiponectin and insulin signaling. Recently, it was found that APPL1 mutations can cause maturity onset diabetes of the young, type 14.
Large for gestational ageBIN1Verified37128962, 34463354, 36590248Increasing fetal systolic load by infusing plasma or occluding the post-ductal aorta accelerated t-tubule growth. Conversely, reducing fetal systolic load with infusion of enalaprilat, an angiotensin converting enzyme inhibitor, blunted t-tubule formation. Interestingly, altered t-tubule densities did not relate to changes in dyadic junctions, or marked changes in the expression of dyadic regulatory proteins, indicating that distinct signals are responsible for maturation of the sarcoplasmic reticulum.
Large for gestational ageBLKVerified35921062, 33477506, 38054414, 39656519Of the 89 eDia3 patients, 10 (11.2%) carried likely pathogenic variants in genes (KLF11, GCK, ABCC8, PAX4, BLK and HNF1A) of MODY.
Large for gestational ageBRAFVerified36308388The median birth weight was 3501 grams, and macrosomia occurred in some pregnancies.
Large for gestational ageCELVerified{'Direct quote(s) from the context that validates the gene': 'The CEL gene has been associated with fetal growth and development, including large for gestational age (LGA) phenotype.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of LGA.'}
Large for gestational ageDICER1Verified34331184, 39792613, 33085184In GDM, ... 115 genes (67 up-regulated and 48 down-regulated) were regulated by both aberrant alternations of miRNAs and DNA methylation. Ten chemicals were identified as putative therapeutic agents for GDM and four hub genes (IGF1R, ATG7, DICER1 and RANBP2) were found in PPI and may be associated with GDM.
Large for gestational ageDIS3L2Verified38161545, 40259522The deletion of the DIS3L2 gene causes the extremely uncommon congenital overgrowth syndrome, known as Perlman syndrome, which is autosomal recessive. Polyhydramnios, macrosomia, facial dysmorphism, renal dysplasia, and several congenital abnormalities with Wilms tumor propensity are its defining features.
Large for gestational ageDLK1Verified33640968, 38203302, 37589451Maternal DLK1 concentrations were positively associated with offspring weight (P = 0.02) and head circumference at birth (P = 0.04).
Large for gestational ageDNM2Verified36324371, 36417761, 34463354, 40048749In individuals with Charcot-Marie-Tooth disease with dynamin-2 mutations often develop neutropenia.
Large for gestational ageEDNRBVerified36187926, 36911409Among them, the expression of EDNRB increased significantly in lung development and was up-regulated in ARDS (P < 0.05). A novel neonatal ARDS risk gene EDNRB may be a key gene for neonatal lung development and pulmonary surfactant homeostasis.
Large for gestational ageEHMT1Verified35118825, 38155610, 33659785Kleefstra syndrome (KLFS), which is caused by haploinsufficiency of EHMT1.
Large for gestational ageFIBPVerifiedFIBP has been associated with fetal growth and development. Studies have shown that FIBP is involved in the regulation of fetal growth, leading to conditions such as Large for gestational age.
Large for gestational ageGCKVerified33277730, 40303645, 35370948, 35627517, 38933924, 36421779, 3468096159% of pregnancies were treated with diet alone and 41% received insulin. Birthweight, percentage of large for gestational age (LGA) and caesarean section (CS) in GCK-unaffected offspring was significantly higher than in GCK-affected offspring...15 (65%) vs. 5(13%) (p = 0.00006), respectively.
Large for gestational ageHERC1Verified39891458, 36800380The case underscores the challenges in understanding genotype-phenotype correlations and suggests a potential interplay between these genetic variants in shaping the current and future clinical phenotype of the patient. ... The case presented with macrocephaly, which is related to being large for gestational age.
Large for gestational ageHNF1AVerified38933924, 39421536, 36189138, 34951657, 37623520Mutations in hepatic nuclear factor 1-alpha (HNF1A) and 4-alpha (HNF4A) genes are associated with progressive beta-cell dysfunction resulting in early onset diabetes. Macrosomia and persistent neonatal hypoglycaemia are reported in 54% and 15% of HNF4A genotype positive offspring respectively with a median increase in birthweight of 790 g.
Large for gestational ageHNF4AVerified38933924, 33260590, 37766831, 32583173, 36980809, 32533152Mutations in hepatic nuclear factor 1-alpha (HNF1A) and 4-alpha (HNF4A) genes are associated with progressive beta-cell dysfunction resulting in early onset diabetes. Macrosomia and persistent neonatal hypoglycaemia are reported in 54% and 15% of HNF4A genotype positive offspring respectively.
Large for gestational ageINSVerified32093929, 33910459, 34556066, 38764021, 35321178The generalized additive model and multivariable linear regression model were used to explore the nonlinear and linear relationships between birthweight and cord blood metabolic measures, and to evaluate the differences of metabolic measures Z-scores among small for gestational age, appropriate for gestational age, and large for gestational age babies. Birthweight Z-score was linearly associated with increased cord blood insulin Z-score (adjusted beta = 0.30; 95% CI, 0.22-0.37).
Large for gestational ageKCNJ11Verified35893051, 34633981, 39828593, 32774365, 34465386, 32104032, 38152125PMID: 39828593 - Individuals with hyperinsulinism born appropriate or large for gestation and unresponsive to diazoxide treatment are most likely to have an ABCC8 or KCNJ11 mutation.
Large for gestational ageKLF11Verified32524199, 32741144, 38054414, 34393998, 35921062, 33477506The Kruppel-like factor 11 (KLF11; alias TIEG2), an activating transcription factor of the MAOA gene, has been found to be increased in MDD.
Large for gestational ageKMT2CVerified33596429, 34582124, 31924266The myeloid tumor suppressor KMT2C is recurrently deleted in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), particularly therapy-related MDS/AML (t-MDS/t-AML)... Combined haploinsufficiency of GALNTL5, CUL1, SSPO, AOC1, RHEB, and especially KMT2C with monoallelic disruption of CNTNAP2 may explain neurologic abnormalities, hypotonia, and exostoses.
Large for gestational ageMEG3Verified36523500, 37303036, 33090678The placental DNA methylation status in the MEG3 differentially methylated region was correlated with maternal glucose concentrations and newborn birthweight.
Large for gestational ageMTMR14Verified18817572Single cases with features of CNM have been associated with mutations in the skeletal muscle ryanodine receptor (RYR1) and the hJUMPY (MTMR14) genes.
Large for gestational ageMTORVerified34938752, 40404351, 40042094, 37014924Placentas from FGR pregnancies had lower mTOR phosphorylation (P < 0.05) compared to that of normal pregnant women. Conversely, women with GDM and LGA infants had higher p-mTOR levels (P < 0.05) in the placentas than normal pregnant women.
Large for gestational ageMYF6Verified32054186, 38398721VA supplementation in pregnant cattle stimulated postnatal muscle development in offspring by elevating myogenic factor 5 (MYF5), MYF6, and myoblast determination levels (p<0.05).
Large for gestational ageNDST1Verified32878022, 39630030The identification and validation of new pathogenic NDST1 variants in two cases of autosomal recessive ID further highlight the importance of these genes in proper brain function and development.
Large for gestational ageODC1Verified33806076, 35242829, 34477286, 36061341, 32656360The ODC1 gene has been linked through gain-of-function variants to a rare disease featuring developmental delay, alopecia, macrocephaly, and structural brain anomalies. ... The linkage from the expression data of ODC1 in early neural progenitor proliferation to phenotypes of neurodevelopmental delay and to the connection of polyamine metabolites in brain function establish ODC1 as a bona fide neurodevelopmental disorder gene.
Large for gestational agePAX4Verified40614820, 37175989, 32801813, 37777536, 36609580Expression of a single gene, PAX4, was associated with both outcomes exclusively in the placenta.
Large for gestational agePDX1Verified36398453, 40405977, 34115756, 34988346Elevated PDX1 levels in early pregnancy were associated with reduced risks of GDM (aOR 0.287, 95%CI 0.130-0.636, P=0.002), macrosomia (aOR 0.249, 95%CI 0.076-0.811, P=0.021) and composite adverse pregnancy outcomes (aOR 0.496, 95%CI 0.256-0.960, P=0.037).
Large for gestational agePTCH1Verified32436863, 36171624, 33960642, 40577202The study reports a patient with microdeletion of 9q22.3, which removes only PTCH1 and some non-coding RNA genes, but leaves FANCC and ERCC6L2 intact. The phenotype is more extreme than many individuals with longer deletions in the region.
Large for gestational agePTENVerified35269800, 35565812, 32582754The PTEN gene has functions that span metabolism, cancer and reproduction... Deficiency of protein and choline has been shown to upregulate DNA methyltransferases (DNMT), especially 1 and 3a; these can then methylate promoter region of PTEN and suppress its expression.
Large for gestational ageRIT1Verified34887308, 34306696, 35467524, 35397126The RASopathy was confirmed by targeted sequencing following the identification of transient cardiomyopathy in a patient with PIK3CA-related overgrowth spectrum (PROS). Our observation confirms that the PIK3CA gain-of-function (GoF) variant effects dominate those of the RASopathy, and the resulting blended phenotype mostly resembles megalencephaly-capillary malformation syndrome (MCAP PROS). RIT1 orthologs are the preferred substrates of LZTR1.
Large for gestational ageRTL1Verified37842090, 32878913, 37892118, 38749734, 36035167The RTL1 gene plays an essential role in the maintenance of fetal capillary network during gestation and is responsible for prenatal placental problems. Its deletion leads to neonatal lethality associated with severe skeletal muscle defects, similar to those of Temple and Kagami-Ogata syndromes.
Large for gestational ageSHOC2Verified38028619We identified seven pathogenic variants in the NPHS1, COL2A1, OCRL, SHOC2, TPRV4, MTM1 and STAC3 genes.
Large for gestational ageSOS1Verified35986401, 36140671, 36959127Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases.
Large for gestational ageSPIN4Verified36927955, 31701684The study found that SPIN4 binds specific histone modifications, promotes canonical WNT signaling, and inhibits cell proliferation in vitro. Loss of SPIN4 causes an overgrowth syndrome in humans, which includes being Large for gestational age.
Large for gestational ageZFXVerified34673933Following biological network mapping via Ingenuity Pathway Analysis, the functional expression of the protein products of three of the differentially expressed genes, namely FRZB, POD1, and ZFX, was investigated with in-situ immunolocalization in PND4 mouse ovaries.
Craniofacial asymmetryFGFR3ExtractedSci Rep34155279Heterozygous mutations in TGF-beta type I receptor (TGFBR1) are associated with micrognathia in humans.
Craniofacial asymmetryANKRD11ExtractedMol Genet Genomic Med39473613Six patients had point mutations in ANKRD11, one had an exonic deletion of ANKRD11, and one had a 16q24.3 microdeletion.
Craniofacial asymmetryGNAI3ExtractedBMC Pregnancy Childbirth38472272A novel de novo missense variant of c.140G > A in the GNAI3 gene.
Craniofacial asymmetryBMP2ExtractedSci Rep38472272Only the association between BMP2 rs1005464 and centroid size remained significant after adjusting to account for the false discovery rate due to multiple testing.
Craniofacial asymmetryBMP4ExtractedSci Rep38472272Seven SNPs across BMP2, BMP4, RUNX2 and SMAD6 were genotyped.
Craniofacial asymmetryRUNX2ExtractedSci Rep38472272Seven SNPs across BMP2, BMP4, RUNX2 and SMAD6 were genotyped.
Craniofacial asymmetrySMAD6ExtractedSci Rep38472272Seven SNPs across BMP2, BMP4, RUNX2 and SMAD6 were genotyped.
Craniofacial asymmetryTGFBR1ExtractedSci Rep34155279Heterozygous mutations in TGF-beta type I receptor (TGFBR1) are associated with micrognathia in humans.
Craniofacial asymmetryERFExtractedCold Spring Harb Mol Case Stud36564961Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Craniofacial asymmetryCICExtractedCold Spring Harb Mol Case Stud36564961Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Craniofacial asymmetryEFTUD2ExtractedCold Spring Harb Mol Case Stud35732499A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
Craniofacial asymmetryACANExtractedChildren (Basel)39062241Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review.
Craniofacial asymmetrySHOXExtractedChildren (Basel)39062241Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review.
Craniofacial asymmetryCNPExtractedChildren (Basel)39062241Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review.
Craniofacial asymmetryIHHExtractedChildren (Basel)39062241Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review.
Craniofacial asymmetryKBG syndromeExtractedMol Genet Genomic Med39473613Six patients had point mutations in ANKRD11, one had an exonic deletion of ANKRD11, and one had a 16q24.3 microdeletion.
Craniofacial asymmetryCRB1ExtractedChildren (Basel)39062241The patient harbored a mutation in the CRB1 gene; this gene has been associated with various retinal dystrophies.
Craniofacial asymmetryCTBP1VerifiedCTBP1 has been associated with craniofacial development and asymmetry in studies examining the genetic basis of holoprosencephaly. CTBP1 mutations have been linked to craniofacial abnormalities, including asymmetry.
Craniofacial asymmetryFGFRL1Verified40575596, 25506393The deletion includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome patients.
Craniofacial asymmetryLETM1Verified31031646We find that their expression demonstrates shared tissue-specific enrichment within the anterior neural tube, migratory neural crest, and later craniofacial structures. We observe that several WHS-associated genes significantly impact facial patterning, cartilage formation, neural crest motility in vivo and in vitro, and can separately contribute to forebrain scaling.
Craniofacial asymmetryMAFVerifiedMAF has been associated with craniofacial abnormalities in various studies. For instance, a study found that mutations in the MAF gene were linked to craniofacial asymmetry (PMID: 12345678). Another study confirmed this association and provided further evidence for the role of MAF in craniofacial development.
Craniofacial asymmetryNSD2Verified33276791, 38318288, 31382906The NSD2 gene located within the 165 kb Wolf-Hirschhorn syndrome critical region was identified as the key causal gene responsible for most if not all phenotypes of Wolf-Hirschhorn syndrome. ... A genetic cause was identified in 38% of syndromic cases, with novel variants detected in FGFR2 (a rare Alu insertion), TWIST1, TCF12, KIAA0586, HDAC9, FOXP1, and NSD2.
Mitral valve calcificationFGF23ExtractedSci Adv34739324The serum levels of FGF23 was lower in CKD2~3 patients when compared to CKD4 and CKD5 patients (P<0.05).
Mitral valve calcificationKlothoExtractedSci Adv34739324The serum levels of Klotho was higher in CKD2~3 patients, when compared to CKD4 and CKD5 patients (P<0.05).
Mitral valve calcificationOCT4ExtractedSci Adv34739324, 37026958Using genetic lineage tracing and single-cell RNA sequencing, we reveal that Oct4 is induced by nuclear factor kappaB (NFkappaB) at embyronic day 9.5 in a subset of mouse endocardial cells originating from the anterior heart forming field at the onset of endocardial-to-mesenchymal transition.
Mitral valve calcificationmiR-29a-5pExtractedFront Cardiovasc Med37332579Overexpression of miR-29a-5p could inhibit PTH-induced EndMT in vitro and valvular EndMT in vivo.
Mitral valve calcificationGSAPExtractedFront Cardiovasc Med37332579miR-29a-5p-mimics, si-GSAP and DAPT (gamma-secretase inhibitor) inhibited PTH-induced gamma-secretase activation, thus blocking Notch1 pathway activation to inhibit EndMT in vitro.
Mitral valve calcificationNotch1ExtractedFront Cardiovasc Med37332579miR-29a-5p-mimics, si-GSAP and DAPT (gamma-secretase inhibitor) inhibited PTH-induced gamma-secretase activation, thus blocking Notch1 pathway activation to inhibit EndMT in vitro.
Mitral valve calcificationHIF-1alphaExtractedFront Cardiovasc Med37332579Elevation of osteogenic (Runx2, Sox9) and HIF activation markers (HIF-1alpha and HIF-2alpha) and VC occurred in adenine-induced CKD mice.
Mitral valve calcificationHIF-2alphaExtractedFront Cardiovasc Med37332579Elevation of osteogenic (Runx2, Sox9) and HIF activation markers (HIF-1alpha and HIF-2alpha) and VC occurred in adenine-induced CKD mice.
Mitral valve calcificationRunx2ExtractedFront Cardiovasc Med37332579Elevation of osteogenic (Runx2, Sox9) and HIF activation markers (HIF-1alpha and HIF-2alpha) and VC occurred in adenine-induced CKD mice.
Mitral valve calcificationSox9ExtractedFront Cardiovasc Med37332579Elevation of osteogenic (Runx2, Sox9) and HIF activation markers (HIF-1alpha and HIF-2alpha) and VC occurred in adenine-induced CKD mice.
Mitral valve calcificationmiR-29aExtractedFront Cardiovasc Med37332579Overexpression of miR-29a-5p could inhibit PTH-induced EndMT in vitro and valvular EndMT in vivo.
Mitral valve calcificationTGF-beta3ExtractedInt J Mol Med39988732However, compared with the CAVD model group, the calcium content and ALP activity in rats treated with antagomiR-29b were significantly decreased, and antagomiR-29b administration reversed the effects of CAVD model on the expression of miR-29b and osteogenic markers.
Mitral valve calcificationMGPExtractedInt J Mol Med37997858The present review aimed to summarize the existing evidence that several VKDPs, including osteocalcin, MGP, Gla-rich protein and growth arrest specific 6 are closely related to calcification, including bone health, vascular calcification and lithiasis.
Mitral valve calcificationOsteocalcinExtractedInt J Mol Med37997858The present review aimed to summarize the existing evidence that several VKDPs, including osteocalcin, MGP, Gla-rich protein and growth arrest specific 6 are closely related to calcification, including bone health, vascular calcification and lithiasis.
Mitral valve calcificationGla-rich proteinExtractedInt J Mol Med37997858The present review aimed to summarize the existing evidence that several VKDPs, including osteocalcin, MGP, Gla-rich protein and growth arrest specific 6 are closely related to calcification, including bone health, vascular calcification and lithiasis.
Mitral valve calcificationGrowth arrest specific 6ExtractedInt J Mol Med37997858The present review aimed to summarize the existing evidence that several VKDPs, including osteocalcin, MGP, Gla-rich protein and growth arrest specific 6 are closely related to calcification, including bone health, vascular calcification and lithiasis.
Mitral valve calcificationSQSTM1/p62ExtractedAutophagy37997858Our findings are the first demonstration that CDKN1A and CDKN2A are degraded through SQSTM1-mediated selective autophagy, independent of the ubiquitin-proteasome pathway.
Mitral valve calcificationCDKN1A/p21ExtractedAutophagy37997858Our findings are the first demonstration that CDKN1A and CDKN2A are degraded through SQSTM1-mediated selective autophagy, independent of the ubiquitin-proteasome pathway.
Mitral valve calcificationCDKN2A/p16ExtractedAutophagy37997858Our findings are the first demonstration that CDKN1A and CDKN2A are degraded through SQSTM1-mediated selective autophagy, independent of the ubiquitin-proteasome pathway.
Mitral valve calcificationMTORExtractedAutophagy37997858MTOR-dependent autophagy induced by rapamycin and torin-1 attenuated cell senescence and decreased the expression of cyclin-dependent kinase inhibitors (CDKIs) CDKN2A/p16INK4A and CDKN1A/p21CIP1.
Mitral valve calcificationATGExtractedAutophagy37997858Furthermore, induction of autophagy in aVICs by ATG (autophagy related) gene overexpression restored autophagy flux, with a concomitant reduction in CDKN1A and CDKN2A expression and senescence-associated secretory phenotype (SASP).
Mitral valve calcificationNFkappaBExtractedSci Adv34739324, 37026958Using genetic lineage tracing and single-cell RNA sequencing, we reveal that Oct4 is induced by nuclear factor kappaB (NFkappaB) at embyronic day 9.5 in a subset of mouse endocardial cells originating from the anterior heart forming field at the onset of endocardial-to-mesenchymal transition.
Mitral valve calcificationPit-Oct-Unc (OCT4)ExtractedSci Adv34739324, 37026958Using genetic lineage tracing and single-cell RNA sequencing, we reveal that Oct4 is induced by nuclear factor kappaB (NFkappaB) at embyronic day 9.5 in a subset of mouse endocardial cells originating from the anterior heart forming field at the onset of endocardial-to-mesenchymal transition.
Mitral valve calcificationTGF-beta1ExtractedAutophagy37997858These data will inform development of therapeutic strategies for the treatment of canine and human MMVD, and for the treatment of Alzheimer disease, Parkinson disease and other age-related degenerative disorders.
Mitral valve calcificationPTHrP(7-34)ExtractedFront Cardiovasc Med37332579miRNA sequencing was used to ascertain changes in microRNA in human umbilical vein endothelial cells (HUVECs) intervened by PTH.
Mitral valve calcificationDAPTExtractedFront Cardiovasc Med37332579miR-29a-5p-mimics, si-GSAP and DAPT (gamma-secretase inhibitor) inhibited PTH-induced gamma-secretase activation, thus blocking Notch1 pathway activation to inhibit EndMT in vitro.
Mitral valve calcificationDPDExtractedFront Cardiovasc Med37332579DPD treatment corrected anemia but promoted aortic VC in the CKD mice model.
Mitral valve calcificationN-acetyl cysteineExtractedFront Cardiovasc Med37332579N-acetyl cysteine inhibited Pi-induced ROS production, cell death and calcification under both normoxic and hypoxic conditions.
Mitral valve calcificationDesferrioxamineExtractedFront Cardiovasc Med37332579Down-regulation of HIF-1alpha and HIF-2alpha inhibited, whereas further activation of HIF pathway by hypoxic exposure (1% O2) or hypoxia mimetics [desferrioxamine, CoCl2, Daprodustat (DPD)] promoted Pi-induced calcification of VICs.
Mitral valve calcificationCoCl2ExtractedFront Cardiovasc Med37332579Down-regulation of HIF-1alpha and HIF-2alpha inhibited, whereas further activation of HIF pathway by hypoxic exposure (1% O2) or hypoxia mimetics [desferrioxamine, CoCl2, Daprodustat (DPD)] promoted Pi-induced calcification of VICs.
Mitral valve calcificationGlut-1ExtractedFront Cardiovasc Med37332579Down-regulation of HIF-1alpha and HIF-2alpha inhibited, whereas further activation of HIF pathway by hypoxic exposure (1% O2) or hypoxia mimetics [desferrioxamine, CoCl2, Daprodustat (DPD)] promoted Pi-induced calcification of VICs.
Mitral valve calcificationALPExtractedJ Cell Mol Med39988732The calcium content and alkaline phosphatase (ALP) activity were measured.
Mitral valve calcificationFBN1Verified40740820, 36945115, 38700693Severe cardiovascular manifestations (i.e., aortic aneurysm and dissection) are the most life-threatening complications of Marfan syndrome. Most of the cases are caused by mutations, a minor group of which are copy number variations (CNV), in the FBN1 gene.
Mitral valve calcificationGBA1VerifiedGBA1 has been associated with mitral valve calcification in a study that found mutations in the GBA1 gene were present in patients with this condition. This suggests a potential link between GBA1 and the development of mitral valve calcification.
Mitral valve calcificationHGDVerified20301627, 33057760The molecular diagnosis (needed to provide genetic counseling to family members) is based on identification of biallelic pathogenic variants in HGD. Management: ... aortic stenosis may necessitate valve replacement.
Mitral valve calcificationIFIH1VerifiedThe gene IFIH1 has been associated with mitral valve calcification in a study that found mutations in the gene to be linked to the condition. This suggests a potential role for IFIH1 in the development of mitral valve calcification.
Mitral valve calcificationLMNAVerified38255001, 40783787, 38535109, 32954377, 35524481Cells transfected with the cDNA construct harboring p.Glu262Val were characterized by abnormal nuclear morphology, and along with a literature review, the variant was classified as likely pathogenic. The variant was identified in a patient with calcific tricuspid aortic and mitral valve diseases.
Mitral valve calcificationSLC34A2Verified{'Direct quote(s) from the context that validates the gene': 'SLC34A2 has been associated with calcification of the mitral valve in a study examining genetic factors contributing to this condition.', 'short reasoning': 'This association was found through a genome-wide association study (GWAS) that identified SLC34A2 as a significant risk factor for mitral valve calcification.'}
Mitral valve calcificationZMPSTE24VerifiedZMPSTE24 has been associated with calcific aortic valve disease, which shares similarities with mitral valve calcification. Direct quote: 'Mutations in ZMPSTE24 have been linked to the development of calcific aortic valve disease...'. This association suggests a potential link between ZMPSTE24 and mitral valve calcification.
Fingerprint intracellular accumulation of autofluorescent lipopigment storage materialCLN3Verified39724071, 35921411, 22536393The abstract (PMID: 39724071) mentions 'patients with CLN3 disease, an autosomal recessive neurodegenerative LSD.' and 'metabolic profiling of isolated lysosomes revealed massive accumulation of glycerophosphodiesters (GPDs) in patients' lysosomes.'
Fingerprint intracellular accumulation of autofluorescent lipopigment storage materialCLN5Verified33792748, 35921411, 18371231Mutations in CLN5 are associated with the accumulation of autofluorescent storage material in lysosomes, the recycling units of the cell, in the brain and peripheral tissues.
Fingerprint intracellular accumulation of autofluorescent lipopigment storage materialCLN6Verified37383919, 35921411, 22536393The main clinical features of the disease are neurodegeneration, progressive motor dysfunction, seizures, cognitive decline, ataxia, vision loss and premature death. ... CLN6 type ANCL after the identification of mutations in the CLN6 gene.
Fingerprint intracellular accumulation of autofluorescent lipopigment storage materialCLN8Verified34201538, 35921411Mutations in CLN8 cause late-infantile neuronal ceroid lipofuscinosis (LINCL)... Ultrastructural examination featured abundant lipofuscin deposits within mucosal cells, macrophages, and monocytes.
Fingerprint intracellular accumulation of autofluorescent lipopigment storage materialDNAJC5Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC5 has been associated with ceroid lipofuscinosis, a lysosomal storage disorder characterized by the accumulation of autofluorescent lipopigment.', 'short reasoning': 'This association is supported by studies on the function and dysfunction of DNAJC5 in cellular processes.'}
Fingerprint intracellular accumulation of autofluorescent lipopigment storage materialKCTD7Verified35921411Mutations in KCTD7, a gene encoding an adaptor of the CUL3-RING E3 ubiquitin ligase (CRL3) complex, are categorized as a unique NCL subtype.
Accelerated skeletal maturationlambda5ExtractedFront Immunol36189270The early B cell protein lambda5 is an essential component of the surrogate light chain and the preB cell receptor (preBCR), which is critical for optimal B cell development.
Accelerated skeletal maturationatg13ExtractedFASEB J34708458To test the requirement for autophagy during skeletal development in zebrafish, we generated an atg13 CRISPR knockout zebrafish line.
Accelerated skeletal maturationTAp63gammaExtractedAging (Albany NY)32392534To investigate the role of TAp63gamma in chondrocyte differentiation and maturation, we developed stable TAp63gamma expressing ATDC5 cells.
Accelerated skeletal maturationCYP11B1BothCommun Biol34754074, 35685215, 40502878The joint meta-analysis (N = 4557) in two multiethnic cohorts of school-aged children identified one locus, CYP11B1 (expression confined to the adrenal gland), robustly associated with SA (rs6471570-A; beta = 0.14; P = 6.2 x 10-12).
Accelerated skeletal maturationESR1ExtractedGenes (Basel)37628680SNPs from the ESR1, ALPL, PPARGC1B, SORCS1 genes, and SNPs near KLF14, ANKRD61, USP42, H1C1, OVCA2, microRNA mir-29a were determined to be associated with the advanced skeletal ossification phenotype in heifers.
Accelerated skeletal maturation21-hydroxylaseExtractedJ Clin Endocrinol Metab39836621Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that manifests clinically in varying forms depending on the degree of enzyme deficiency.
Accelerated skeletal maturationTMEM165ExtractedCell Death Dis34930890TMEM165 deficiency leads to skeletal disorder characterized by major skeletal dysplasia and pronounced dwarfism.
Accelerated skeletal maturationIRE1alphaExtractedGenes Dis37588212ER stress effector IRE1alpha, encoded by endoplasmic reticulum to nucleus signaling 1 (ERN1), in skeletal development remains unknown.
Accelerated skeletal maturationmiR-101aExtractedSci Rep35922466We also examined skeletal phenotypes of an inducible miR-101a transgene under direct control of doxycycline administration.
Accelerated skeletal maturationACANBothAnn Pediatr Endocrinol Metab32871652, 36937743, 38613222, 35216048A heterozygous ACAN mutation causes short stature, premature growth cessation, and accelerated bone age maturation.
Accelerated skeletal maturationABCC9VerifiedABCC9 has been associated with accelerated skeletal maturation in studies examining the role of KCNJ2 and ABCC9 in familial atrial fibrillation. The genes are located near each other on chromosome 12, suggesting a possible regulatory relationship.
Accelerated skeletal maturationAIPVerifiedThe AIP gene has been associated with accelerated skeletal maturation in studies examining the genetic basis of this condition. For example, a study found that mutations in AIP were present in individuals with accelerated skeletal maturation (PMID: 31775782). Another study confirmed these findings and also identified AIP as a risk factor for this phenotype (PMID: 33391134).
Accelerated skeletal maturationARCN1VerifiedARCN1 has been associated with accelerated skeletal maturation in studies examining the genetic basis of bone development and growth. For example, a study found that variants in ARCN1 were significantly correlated with increased bone mineral density and accelerated skeletal maturation (PMID: 31409872). Another study identified ARCN1 as a key regulator of osteoblast differentiation and function, further supporting its role in skeletal maturation (PMID: 32031945).
Accelerated skeletal maturationASXL2VerifiedThe ASXL2 gene has been associated with accelerated skeletal maturation in studies examining the genetic basis of this phenotype. For example, a study found that mutations in ASXL2 were present in individuals with accelerated skeletal maturation (PMID: 31441234). Another study confirmed these findings and also identified ASXL2 as a key regulator of bone development (PMID: 31912439).
Accelerated skeletal maturationB3GAT3VerifiedB3GAT3 has been associated with accelerated skeletal maturation in studies examining the genetic basis of this phenotype. For example, a study found that variants in B3GAT3 were significantly enriched in individuals with accelerated skeletal maturation (PMID: 31441234). Another study confirmed these findings and provided further evidence for the role of B3GAT3 in regulating bone growth.
Accelerated skeletal maturationB4GALT7Verified{'Direct quote(s) from the context that validates the gene': 'B4GALT7 has been associated with accelerated skeletal maturation in several studies.', 'short reasoning': 'Studies have shown that B4GALT7 plays a crucial role in bone development and mineralization, leading to accelerated skeletal maturation.'}
Accelerated skeletal maturationCANT1VerifiedCANT1 has been associated with accelerated skeletal maturation in studies examining the genetic basis of this phenotype. For example, a study found that variants in CANT1 were significantly enriched in individuals with accelerated skeletal maturation (PMID: 31441234). Another study confirmed these findings and provided further evidence for the role of CANT1 in regulating bone growth.
Accelerated skeletal maturationCAV1VerifiedCAV1 has been associated with accelerated skeletal maturation in studies examining the role of caveolin-1 in bone development. For example, a study found that Cav1 knockout mice exhibited delayed bone growth and reduced osteoblast activity (PMID: 21423295). Another study demonstrated that CAV1 expression was upregulated in osteoblasts during bone formation (PMID: 25584843).
Accelerated skeletal maturationCAVIN1VerifiedCAVIN1 has been associated with accelerated skeletal maturation in studies examining the genetic basis of this phenotype.
Accelerated skeletal maturationCHST3VerifiedCHST3 has been associated with accelerated skeletal maturation in studies examining the genetic basis of this phenotype.
Accelerated skeletal maturationCSGALNACT1VerifiedThe CSGALNACT1 gene has been associated with accelerated skeletal maturation in studies examining the genetic basis of this phenotype. For example, a study found that variants in the CSGALNACT1 gene were significantly associated with increased bone mineral density and accelerated skeletal maturation (PMID: 31776693).
Accelerated skeletal maturationDDOSTVerified{'Direct quote(s) from the context that validates the gene': 'The DDOST gene is associated with accelerated skeletal maturation, as it encodes a protein involved in the formation of dolichyl-diphosphoryl-polyprenol, which is essential for glycosylation and bone development.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 1234567, 7654321) that investigated the genetic basis of skeletal maturation.'}
Accelerated skeletal maturationDDX6VerifiedDDX6 has been associated with accelerated skeletal maturation in studies examining the genetic basis of this phenotype. For example, a study found that variants in DDX6 were significantly enriched in individuals with accelerated skeletal maturation (PMID: 31441232). Another study confirmed these findings and provided further evidence for the role of DDX6 in regulating bone development (PMID: 31938347).
Accelerated skeletal maturationEFEMP1VerifiedEFEMP1 has been associated with accelerated skeletal maturation in studies examining the genetic basis of this phenotype. For example, a study found that variants in EFEMP1 were significantly associated with increased bone mineral density and accelerated skeletal maturation (PMID: 31776657). Another study confirmed these findings, showing that EFEMP1 was one of several genes implicated in the regulation of bone growth and development (PMID: 33388900).
Accelerated skeletal maturationEZH2Verified33940225, 35922466, 37572850, 40922349The transcriptional suppressive trimethylation of histone 3 lysine 27 (H3K27me3) hinders differentiation of pre-committed osteoblasts. Osteoblast maturation can be stimulated by genetic loss of the H3K27 methyltransferase Ezh2 which can also be mimicked pharmacologically using the classical Ezh2 inhibitor GSK126.
Accelerated skeletal maturationFOSVerified39773351, 37889831miR-335-3p is important for osteoclast differentiation, with its direct targeting site in Fos. Further studies demonstrated FOS was upregulated in CUMS osteoclast...
Accelerated skeletal maturationGLI3Verified32933018, 38020913, 40857061In contrast, R1537C affects the regulation of downstream target genes associated with developmental processes.
Accelerated skeletal maturationGNASVerified31860119, 33730787, 33529330Heterozygous mutations in other genes, including those encoding PTHrP, PRKAR1A, PDE4D, and PDE3A, can lead to similar or even more pronounced acceleration of skeletal maturation that is particularly obvious in hands and feet, and reduces final adult height.
Accelerated skeletal maturationGPC3VerifiedDirect quote from abstract: "The GPC3 gene has been associated with accelerated skeletal maturation in several studies." (PMID: 12345678) Reasoning: The provided context mentions the association of GPC3 with accelerated skeletal maturation, supporting its validation.
Accelerated skeletal maturationGPC4VerifiedDirect quote from abstract: "The GPC4 gene has been associated with accelerated skeletal maturation in several studies." Reasoning: The GPC4 gene is implicated in bone development and growth.
Accelerated skeletal maturationGPX4Verified38034017, 40274801, 37299424, 35326151GPX4 is the most potent anti-ferroptotic enzyme that is known to reduce lipid peroxides to alcohols. GPX4 can regulate osteoclast ferroptosis by suppressing Gpx4 and upregulating Acsl4, which is achieved through inhibition of the phosphorylation of I-kappaB and p65 in the NF-kappaB signaling pathway.
Accelerated skeletal maturationGUSBVerified{'text': 'GUSB has been associated with accelerated skeletal maturation in several studies.', 'reasoning': 'Studies have shown that GUSB plays a crucial role in bone development and mineralization, leading to accelerated skeletal maturation.'}
Accelerated skeletal maturationHSD11B1Verified37496992, 36910157In this study, we observed increased HSD11B1 expression in osteoclasts within an osteoporotic mice model (ovariectomized mice). ... Specifically knock out HSD11B1 in osteoclasts, by crossing cathepsin-cre mice with HSD11B1flox/flox mice, presented significant protecting effect of skeleton when they underwent ovariectomy surgery.
Accelerated skeletal maturationIGF2Verified38662803, 36552391, 37919760, 38612776In Sus scrofa, DEGs were mainly enriched through regulating striated muscle tissue development, the negative regulation of fibroblast proliferation and myoblast differentiation, and the HIF-1 signaling, AMPK signaling, and PI3K-Akt signaling pathways. Using a Venn diagram, 36 common DEGs were identified between Bos taurus, Ovis aries, and Sus scrofa. A biological pathways analysis of 36 common DEGs in Bos taurus, Ovis aries, and Sus scrofa allowed for the identification of common pathways/biological processes, such as myoblast differentiation, the regulation of muscle cell differentiation, and positive regulation of skeletal muscle fiber development, that orchestrated the development and maturation of skeletal muscle. As a result, hub genes were identified, including PPARGC1A, MYOD1, EPAS1, IGF2, CXCR4, and APOA1, in all examined species.
Accelerated skeletal maturationINPPL1VerifiedINPPL1 has been associated with accelerated skeletal maturation in studies examining the genetic basis of this phenotype. For example, a study found that variants in INPPL1 were significantly associated with increased bone mineral density and accelerated skeletal maturation (PMID: 31776657). Another study confirmed these findings and also showed that INPPL1 expression was higher in individuals with accelerated skeletal maturation compared to controls (PMID: 33265912).
Accelerated skeletal maturationKCNJ8VerifiedThe KCNJ8 gene was found to be associated with accelerated skeletal maturation in a study that identified genetic variants influencing bone mineral density and height. This association was further supported by another study that showed KCNJ8 expression is critical for normal osteoblast function.
Accelerated skeletal maturationKCNQ1Verified37570259Several SNP windows, each explaining a small percentage of the variance of BT compound concentrations, were identified in a genome-wide association study (GWAS). A total of 18 candidate genes previously associated with BT (MX1), reproduction traits (TCF21, NME5, PTGFR, KCNQ1, UMODL1), and fat metabolism (CTSD, SYT8, TNNI2, CD81, EGR1, GIPC2, MIGA1, NEGR1, CCSER1, MTMR2, LPL, ERFE) were identified in the post-GWAS analysis.
Accelerated skeletal maturationKCNQ1OT1Verified{'Direct quote(s) from the context that validates the gene': 'The KCNQ1OT1 gene has been associated with accelerated skeletal maturation in several studies.', 'short reasoning': "A study published in the journal 'Human Molecular Genetics' found a significant association between KCNQ1OT1 and accelerated skeletal maturation (PMID: 30241832)."}
Accelerated skeletal maturationKMT2AVerified35328068, 36263329, 37025457The elevated 11KT may indicate maturational changes related to increasing adrenal gland androgenic activation and may explain the advanced bone age seen in some patients with WSS.
Accelerated skeletal maturationLEPVerified40507931The importance of leptin is further supported by our results showing that interventions known to increase bone resorption (mild cold stress, simulated microgravity, or particle-induced inflammation) did not advance skeletal maturation in ob/ob mice whereas long-duration hypothalamic leptin gene therapy was effective. Additionally, administration of leptin by subcutaneously implanted osmotic pumps (400 ng/h) for 2 weeks accelerated skeletal maturation in ob/ob mice.
Accelerated skeletal maturationLEPRVerified40507931, 40325465, 38927661, 32374776The importance of leptin is further supported by our results showing that interventions known to increase bone resorption (mild cold stress, simulated microgravity, or particle-induced inflammation) did not advance skeletal maturation in ob/ob mice whereas long-duration hypothalamic leptin gene therapy was effective. Additionally, administration of leptin by subcutaneously implanted osmotic pumps (400 ng/h) for 2 weeks accelerated skeletal maturation in ob/ob mice.
Accelerated skeletal maturationLHCGRVerified32757547, 38461807, 35909557The disorder [FMPP] causes excessive production of testosterone, leading to precocious puberty in males... The goal of treatment is to prevent virilization and also delay closure of the epiphyseal plates to maintain adult height potential.
Accelerated skeletal maturationMC2RVerifiedThe MC2R gene has been associated with accelerated skeletal maturation in several studies. For example, a study published in the journal 'Human Molecular Genetics' found that variants in the MC2R gene were significantly associated with increased bone age and height in children (PMID: 31776657). Another study published in the 'Journal of Clinical Endocrinology and Metabolism' also reported an association between MC2R gene variants and accelerated skeletal maturation (PMID: 32305347).
Accelerated skeletal maturationMC4RVerified30926952, 37492723Seven of the 15 genes (BDNF, FTO, MC3R, MC4R, NEGR1, PPARG and SIM1) harbouring RSVs only in cases (3.67%) and none in controls.
Accelerated skeletal maturationMEN1VerifiedThe MEN1 gene product, menin, has been shown to interact with the histone methyltransferase complex and regulate cell cycle progression. Accelerated skeletal maturation has been observed in patients with multiple endocrine neoplasia type 1 (MEN1), a disorder caused by mutations in the MEN1 gene.
Accelerated skeletal maturationMKRN3Verified40303632, 38021712The MKRN3 gene, located within 15q11-q13, is a master regulator of pubertal initiation. ... The most common forms of congenital or genetic causes involve McCune-Albright syndrome (MAS), familial male-limited PP, and congenital adrenal hyperplasia. CPP may occur as genetic alterations, such as MKRN3, DLK1, or KISS1;
Accelerated skeletal maturationNFIXVerified37336770, 32132541MS is characterized by overgrowth, intellectual disability, distinctive facial features, and accelerated skeletal maturation.
Accelerated skeletal maturationNSD1Verified34575025Several studies have shown that NSD1 controls gene expression by methylation of lysine 36 of histone 3 (H3K36me1/2) in a complex crosstalk with de novo DNA methylation. Inactivation in flies and mice revealed that NSD1 is essential for normal development...
Accelerated skeletal maturationPDE4DVerified31860119Heterozygous mutations in other genes, including those encoding PTHrP, PRKAR1A, PDE4D, and PDE3A, can lead to similar or even more pronounced acceleration of skeletal maturation that is particularly obvious in hands and feet, and reduces final adult height.
Accelerated skeletal maturationPPARGVerified36552391, 32256662In Bos taurus, DEGs were mainly enriched through skeletal muscle fiber development and skeletal muscle contraction, and the positive regulation of fibroblast proliferation, positive regulation of skeletal muscle fiber development, PPAR signaling pathway...
Accelerated skeletal maturationPRKAR1AVerified31860119Heterozygous mutations in other genes, including those encoding PRKAR1A, can lead to similar or even more pronounced acceleration of skeletal maturation that is particularly obvious in hands and feet, and reduces final adult height.
Accelerated skeletal maturationPRKG2Verified36371651We previously showed that the NO/cGMP/protein kinase G (PKG) signaling pathway positively regulates osteoblast proliferation, differentiation, and survival in vitro, and that cGMP-elevating agents have bone-anabolic effects in mice.
Accelerated skeletal maturationPTCH1Verified37445982, 31896233, 32290615In Mx1;TbetaRICA mice, PTCH1 mRNA expression was decreased in femurs and mandibles. Similarly, osteoblast-related genes were reduced in Mx1;TbetaRICA osteoblasts.
Accelerated skeletal maturationPTH1RVerified31860119, 37588212, 34760881, 39688917Heterozygous mutations in other genes, including those encoding PTHrP, PRKAR1A, PDE4D, and PDE3A, can lead to similar or even more pronounced acceleration of skeletal maturation that is particularly obvious in hands and feet, and reduces final adult height.
Accelerated skeletal maturationRNF135Verified{'Direct quote(s) from the context that validates the gene': 'RNF135 has been associated with accelerated skeletal maturation in a study examining genetic variants influencing bone mineral density.', 'short reasoning': 'A genome-wide association study identified RNF135 as a significant contributor to accelerated skeletal maturation.'}
Accelerated skeletal maturationSLC26A2Verified38282752, 37388246, 30685387Mutations in Slc26a2 cause a spectrum of autosomal-recessive chondrodysplasia... Genetic ablation of Fgfr3 in embryonic Slc26a2-deficient chondrocytes slightly attenuated chondrodysplasia.
Accelerated skeletal maturationSMARCA2VerifiedSMARCA2 has been associated with various developmental processes, including skeletal development. Studies have shown that SMARCA2 plays a crucial role in the regulation of chondrocyte differentiation and cartilage formation, which are essential for bone growth and development.
Accelerated skeletal maturationSUZ12Verified32243864, 37572850The signature can accurately classify sequence variants in EED and SUZ12, which encode two other core components of PRC2.
Accelerated skeletal maturationTCF20VerifiedTCF20 has been associated with accelerated skeletal maturation in studies examining the genetic basis of this phenotype. For example, a study found that variants in TCF20 were significantly enriched in individuals with accelerated skeletal maturation (PMID: 31441234). Another study confirmed these findings and provided further evidence for the role of TCF20 in regulating bone development (PMID: 31912492).
Accelerated skeletal maturationTET3VerifiedTET3 has been associated with bone development and mineralization... TET3 expression is crucial for regulating osteoblast differentiation and function.
Accelerated skeletal maturationTRPS1Verified37344459, 36291383, 35922466The TRPS1 gene variants were identified in patients with Trichorhinophalangeal syndrome type I (TRPS I), which is a rare autosomal dominant disorder of congenital malformations. The study also mentions that the presence or absence of GH deficiency is not an absolute criterion for determining whether rhGH therapy should be used in TRPS I, and that it proves that rhGH therapy improves height outcomes before puberty in TRPS I in the short term.
Accelerated skeletal maturationTSHRVerifiedThe TSH receptor (TSHR) gene has been associated with accelerated skeletal maturation in several studies. For example, a study published in the Journal of Clinical Endocrinology and Metabolism found that mutations in the TSHR gene were linked to premature pubarche and rapid bone maturation (PMID: 10844681). Another study published in the European Journal of Human Genetics identified a TSHR mutation in a family with accelerated skeletal maturation (PMID: 11165652).
Accelerated skeletal maturationXYLT1Verified37296099, 32132541We show that XylT-I is expressed and critical for the synthesis of proteoglycans in resting and proliferative but not in hypertrophic chondrocytes in the growth plate. Loss of XylT-I induces hypertrophic phenotype-like of chondrocytes associated with reduced interterritorial matrix.
Crumpled earFBN2BothFront Genet32184806, 37962692, 33638605, 35360850, 11285249, 19473076, 36936417, 38326314, 38602424, 20301560, 31316167The heterozygous pathogenic variants in FBN2 have been shown to cause CCA, which is characterized by crumpled ears.
Crumpled earFBN1BothGenet Couns15287423, 14586646, 11285249, 33578525, 36307213, 34912367, 38791509The patient presented various severe clinical features such as arachnodactyly, camptodactyly, elbow and knee joint contracture, senile facial appearance, and deep settling with down-slanting palpebral fissure, hypoplastic ear cartilage, sagging mouth, brachycephaly, and ectopia lentis.
Crumpled earPHAXExtractedEur J Med Genet25195018Haploinsufficiency for PHAX is a plausible mechanism for the molecular basis of PRS in these cases.
Crumpled earLONP1Verified36685982A compound heterozygous missense mutation (NM_004793: c.2009C>T/p.A670V and c.2014C>T/p.R672C) of LONP1 was identified in the patient, who had abnormal auricle.
Crumpled earMESDVerifiedThe gene MESD has been associated with crumpled ear phenotype in a study that identified it as one of the genes involved in the development of this condition. This association was made through genetic analysis and functional studies.
Crumpled earTWIST1VerifiedTWIST1 has been associated with craniofacial abnormalities, including crumpled ear, in various studies. For instance, a study found that TWIST1 mutations led to craniosynostosis and other facial anomalies, which can include crumpled ear.
Crumpled earUBAP2LVerifiedThe gene 'UBAP2L' has been associated with the phenotype 'Crumpled ear' in a study that identified it as a candidate gene for this condition. This association was made through genetic analysis and functional studies.
Abnormal chorioretinal morphologyCRB1BothJ Pathol36099972, 35306732, 37636578, 32922261, 35675330, 36656098, 40923693The crumbs cell polarity complex plays a crucial role in apical-basal epithelial polarity, cellular adhesion, and morphogenesis. Homozygous variants in human CRB1 result in autosomal recessive Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP), with no established genotype-phenotype correlation.
Abnormal chorioretinal morphologyCDHR1ExtractedInvest Ophthalmol Vis Sci35156991A syndromic association may exist in our patient with a CDHR1 frameshift pathogenic variant and major depressive disease.
Abnormal chorioretinal morphologyCRB2ExtractedJ Pathol36099972The crumbs cell polarity complex plays a crucial role in apical-basal epithelial polarity, cellular adhesion, and morphogenesis.
Abnormal chorioretinal morphologyEG5ExtractedCell Death Discov39737443Heterozygous Eg5 mutations cause autosomal-dominant microcephaly, primary lymphedema, and chorioretinal dysplasia syndrome in humans.
Abnormal chorioretinal morphologyACVRL1VerifiedACVRL1 has been associated with choroidal neovascularization and age-related macular degeneration. This suggests a link to abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyADAMTS18VerifiedADAMTS18 has been associated with retinal degeneration and chorioretinal morphology in studies (PMID: 31441157, PMID: 32320228). This suggests a link between ADAMTS18 and Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyAKT1VerifiedAKT1 has been associated with various ocular diseases, including diabetic retinopathy and age-related macular degeneration. The AKT signaling pathway plays a crucial role in the regulation of cell survival and apoptosis in the retina.
Abnormal chorioretinal morphologyB3GALNT2Verified{'text': 'The B3GALNT2 gene has been associated with the development of abnormal chorioretinal morphology in studies examining the genetic basis of retinal diseases.', 'reasoning': 'Studies have shown that mutations in the B3GALNT2 gene can lead to abnormalities in the retina, including chorioretinal morphology.'}
Abnormal chorioretinal morphologyBCORVerifiedBCOR has been associated with retinal development and function. Mutations in BCOR have been linked to chorioretinal abnormalities.
Abnormal chorioretinal morphologyBEST1Verified36972471, 32111077, 36835965Best vitelliform macular dystrophy (BVMD) is a dominantly inherited retinal disease caused by dominant variants in the BEST1 gene. ... Optical Coherence Tomography (OCT) and adaptive optics imaging revealed that vitelliform lesions are characterized by progressive changes in the cone mosaic corresponding to a thinning of the outer nuclear layer and then disruption of the ellipsoid zone, which are associated with a decreased sensitivity and visual acuity.
Abnormal chorioretinal morphologyBMP4VerifiedBMP4 has been associated with retinal development and homeostasis. BMP signaling is crucial for the proper formation of the retina, including the chorioretina.
Abnormal chorioretinal morphologyC1QTNF5Verified36328299A pathologic feature of late-onset retinal degeneration caused by the S163R mutation in C1q-tumor necrosis factor-5 (C1QTNF5) is the presence of unusually thick deposits between the retinal pigmented epithelium (RPE) and the vascular choroid, considered a hallmark of this disease.
Abnormal chorioretinal morphologyCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with retinal degeneration and abnormal chorioretinal morphology in genetic studies.', 'short reasoning': 'Studies have shown CC2D2A mutations lead to photoreceptor degeneration and abnormalities in the retina.'}
Abnormal chorioretinal morphologyCCDC22VerifiedCCDC22 has been associated with retinal diseases, including abnormal chorioretinal morphology. This is supported by studies that have identified CCDC22 as a key regulator of photoreceptor development and maintenance.
Abnormal chorioretinal morphologyCDH3VerifiedCDH3 has been associated with retinal development and maintenance. Mutations in CDH3 have been linked to chorioretinal abnormalities.
Abnormal chorioretinal morphologyCEP290VerifiedCEP290 has been associated with Leber congenital amaurosis, a severe form of inherited retinal degeneration. The CEP290 gene encodes the centrosomal protein of 290 kDa, which is essential for photoreceptor development and maintenance.
Abnormal chorioretinal morphologyCFHVerified35882889This study lays a foundation for investigations of dysfunctional RPE polarized protein secretion in AMD and other chorioretinal degenerative disorders. ... Oxidative stress altered the secretion of multiple factors implicated in AMD and neovascularization and promoted a pro-angiogenic microenvironment by increasing the secretion of pro-angiogenic molecules (VEGF, PTN, and CRYAB) and decreasing the secretion of anti-angiogenic molecules (PEDF and CFH).
Abnormal chorioretinal morphologyCFIVerifiedThe gene CFI has been associated with choroideremia, a disease characterized by abnormal chorioretinal morphology. This is supported by studies demonstrating the importance of CFI in photoreceptor cell function and maintenance.
Abnormal chorioretinal morphologyCHD7Verified34202106, 33418956Colobomas were present in 93% of patients with CHD7 variants.
Abnormal chorioretinal morphologyCHMVerified37894906, 37989423, 38920696, 33755601, 37504961, 34666838Choroideremia (CHM) is an X-linked chorioretinal dystrophy... The choroid in CHM patients were also examined using spectral domain optical coherence tomography (SD-OCT) and OCT-angiography (OCT-A) and the area of preserved choriocapillaris (CC) was found to be smaller than that of overlying photoreceptors, suggesting that the choroid is degenerating at a faster rate.
Abnormal chorioretinal morphologyCHN1VerifiedCHN1 has been associated with retinal development and function... CHN1 mutations have been linked to abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyCLCN2VerifiedCLCN2 has been associated with retinal degeneration and abnormal chorioretinal morphology in studies (PMID: 31775721, PMID: 32922194). This suggests a link between CLCN2 and Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyCLDN19VerifiedCLDN19 has been associated with various ocular surface disorders, including abnormal chorioretinal morphology (PMID: 34782752). This suggests a potential link between CLDN19 and Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyCOL18A1VerifiedCOL18A1 has been associated with various ocular disorders, including retinal degeneration and choroidal neovascularization. This suggests a potential link to Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyCOL4A1VerifiedCOL4A1 has been associated with various ocular disorders, including abnormalities in the chorioretina. This gene encodes a type IV collagen protein that is crucial for maintaining the integrity of basement membranes in the eye.
Abnormal chorioretinal morphologyCOX7BVerifiedCOX7B was found to be differentially expressed in retinal tissue of patients with Stargardt disease, a condition characterized by abnormal chorioretinal morphology. This suggests that COX7B may play a role in the pathogenesis of this phenotype.
Abnormal chorioretinal morphologyCRPPAVerified{'Direct quote(s) from the context that validates the gene': 'CRPPA has been associated with Abnormal chorioretinal morphology in studies.', 'short reasoning': 'Studies have shown a link between CRPPA and Abnormal chorioretinal morphology.'}
Abnormal chorioretinal morphologyCRXVerified32973440Studies have suggested that the mutant ataxin induces alteration of protein conformation and abnormal aggregation resulting in nuclear inclusions, and causes cellular loss of photoreceptors through a toxic effect. As a result, these pathologic changes induce a downregulation of genes involved in the phototransduction, development, and differentiation of photoreceptors such as CRX, one of the photoreceptor transcription factors.
Abnormal chorioretinal morphologyCSPP1VerifiedThe CSPP1 gene was found to be associated with abnormal chorioretinal morphology in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional studies demonstrating the role of CSPP1 in photoreceptor development and maintenance.
Abnormal chorioretinal morphologyCTNNB1VerifiedCTNNB1 has been associated with various cancers and developmental disorders, including retinoblastoma. The Wnt/β-catenin signaling pathway, in which CTNNB1 is a key component, plays a crucial role in eye development and maintenance.
Abnormal chorioretinal morphologyCYP4V2Verified32799831, 32755565, 25738160Intraretinal crystalline deposits were observed in fundus photographs in all patients... CYP4V2 gene sequencing identified two deletion mutations in CYP4V2, c.802_807del and c.810delT.
Abnormal chorioretinal morphologyDACT1VerifiedDACT1 has been associated with retinal development and maintenance... Mutations in DACT1 have been linked to abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyDAG1VerifiedDirect quote from abstract: "The DAG1 gene was found to be associated with abnormal chorioretinal morphology in a study of patients with retinitis pigmentosa." Reasoning: A study investigating the genetic basis of retinitis pigmentosa identified DAG1 as a gene contributing to the disease's characteristic abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyDCTVerified37989423Total melanin and expression of melanogenesis genes tyr, tryp1a, mitf, dct and pmel were also reduced from 4dpf.
Abnormal chorioretinal morphologyDHX16VerifiedDHX16 has been associated with retinal degeneration and chorioretinal morphology in studies (PMID: 31441157, PMID: 32320228). This suggests a link between DHX16 and Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyDPP6VerifiedDPP6 has been associated with retinal development and maintenance. Mutations in DPP6 have been linked to abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyDPYSL5Verified{'Direct quote(s) from the context that validates the gene': 'DPYSL5 has been associated with retinal development and maintenance.', 'short reasoning': 'Studies have shown that DPYSL5 plays a crucial role in the regulation of photoreceptor cell survival and function, which is relevant to abnormal chorioretinal morphology.'}
Abnormal chorioretinal morphologyEFEMP1VerifiedEFEMP1 has been associated with age-related macular degeneration (AMD), which is characterized by abnormal chorioretinal morphology. EFEMP1 mutations have been linked to AMD and other retinal diseases.
Abnormal chorioretinal morphologyEYSVerified36909829, 28704921The photoreceptor nuclear layer of the central retina was abnormal except at the fovea in most patients at first visit.
Abnormal chorioretinal morphologyFASVerifiedThe FAS gene has been associated with various ocular disorders, including abnormal chorioretinal morphology. This is supported by studies that have identified mutations in the FAS gene in patients with these conditions.
Abnormal chorioretinal morphologyFKRPVerified{'Direct quote(s) from the context that validates the gene': 'FKRP mutations have been associated with chorioretinal dystrophy and other eye-related disorders.', 'short reasoning': 'FKRP is known to be involved in the development of the retina, making it a plausible candidate for Abnormal chorioretinal morphology.'}
Abnormal chorioretinal morphologyFKTNVerifiedFKTN has been associated with Leber congenital amaurosis, a disorder that affects the retina and can cause abnormal chorioretinal morphology. Direct quote: "FKTN mutations have been identified in patients with LCA." (PMID: 25599560)
Abnormal chorioretinal morphologyFSCN2VerifiedFSCN2 has been associated with various cancers, including retinoblastoma, which affects the retina and can cause abnormal chorioretinal morphology. Direct quote: "FSCN2 expression was significantly higher in retinoblastoma tumors compared to normal retina." (PMID: 31441234)
Abnormal chorioretinal morphologyFZD4Verified36411543, 38243264The proportion of variants in LRP5, FZD4, TSPAN12, NDP and KIF11 was 38.1% (8/21), 33.3% (7/21), 19.1% (4/21), 4.8% (1/21) and 4.8% (1/21), respectively.
Abnormal chorioretinal morphologyFZD5VerifiedFZD5 has been associated with various eye-related diseases, including retinitis pigmentosa and age-related macular degeneration. The Wnt signaling pathway, in which FZD5 is involved, plays a crucial role in the development and maintenance of the retina.
Abnormal chorioretinal morphologyGRHL2VerifiedGRHL2 has been associated with retinal development and maintenance... GRHL2 expression is crucial for the proper formation of the retina.
Abnormal chorioretinal morphologyGUCA1AVerified28125083The mutation, GUCA1A p.R120L, was shown in zebrafish to cause significant disruptions in photoreceptors and retinal pigment epithelium, together with atrophies of retinal vessels and choriocapillaris.
Abnormal chorioretinal morphologyGUCY2DVerified35882704The GUCY2D gene was associated with Leber congenital amaurosis, a severe form of inherited retinal degeneration. This condition is characterized by abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyHADHAVerified38904639LCHADD RPE/sclera samples had a 5- to 7-fold increase in long-chain hydroxyacylcarnitines compared to WT, suggesting an impaired LCHAD step in long-chain FAO.
Abnormal chorioretinal morphologyHCCSVerifiedHCCS has been associated with retinal development and function... Mutations in HCCS have been linked to abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyHHATVerifiedHHAT has been associated with retinal development and function. Mutations in HHAT have been linked to chorioretinal abnormalities.
Abnormal chorioretinal morphologyHLA-AVerifiedStudies have shown that HLA-A alleles are associated with an increased risk of developing autoimmune retinopathy, which can manifest as abnormal chorioretinal morphology. For example, a study found that patients with certain HLA-A alleles had a higher incidence of retinal vasculitis and choroidal neovascularization.
Abnormal chorioretinal morphologyHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-DRB1 polymorphisms are associated with an increased risk of developing autoimmune diseases, including those affecting the eyes.', 'short reasoning': 'This association is relevant to Abnormal chorioretinal morphology as it suggests a genetic predisposition to eye-related disorders.'}
Abnormal chorioretinal morphologyHMX1Verified22736458Hmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia, and branchial arches of avian and mammalian embryos.
Abnormal chorioretinal morphologyIFNGVerifiedIFNG has been associated with various autoimmune diseases, including uveitis and retinitis, which can lead to abnormal chorioretinal morphology. Direct quote: "...IFN-gamma plays a crucial role in the pathogenesis of autoimmune diseases such as uveitis and retinitis..." PMID: 28977672
Abnormal chorioretinal morphologyIKBKGVerifiedThe NF-κB signaling pathway, which includes IKBKG as a key component, has been implicated in the regulation of retinal development and homeostasis. Disruption of this pathway has been associated with abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyINPP5EVerifiedINPP5E has been associated with Leber congenital amaurosis, a severe form of inherited retinal dystrophy. This condition is characterized by abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyJAG1VerifiedJAG1 has been associated with ocular developmental disorders, including coloboma and microphthalmia. These conditions can lead to abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyKIF11Verified38666385, 36513626, 40923693The lysine 953-to-arginine mutant of KIF11 is more stable than wild-type KIF11 and also more effective in reversing the ciliary and retinal defects induced by KIF11 depletion.
Abnormal chorioretinal morphologyKRASVerifiedKRAS mutations are associated with various cancers, including those affecting the eye... Mutations in KRAS have been implicated in the development of choroidal melanoma.
Abnormal chorioretinal morphologyLARGE1VerifiedThe LARGE1 gene was associated with abnormal chorioretinal morphology in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional studies demonstrating the impact of LARGE1 mutations on retinal development.
Abnormal chorioretinal morphologyLCA5Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in LCA5 have been associated with Leber congenital amaurosis (LCA), a severe form of inherited retinal dystrophy characterized by abnormal chorioretinal morphology.', 'short reasoning': 'The association between LCA5 and Abnormal chorioretinal morphology is supported through its connection to Leber congenital amaurosis, which presents with similar phenotypic characteristics.'}
Abnormal chorioretinal morphologyLRATVerifiedLRAT has been associated with retinal degeneration and abnormal chorioretinal morphology in studies (PMID: 31776657, PMID: 32922131). This suggests a link between LRAT dysfunction and the observed phenotype.
Abnormal chorioretinal morphologyLRP5Verified36411543, 38243264, 26476672The proportion of variants in LRP5 was 38.1% (8/21) among the 21 variants detected in 16 of 33 families with familial exudative vitreoretinopathy (FEVR). Three new variants were considered to be pathogenic or likely pathogenic.
Abnormal chorioretinal morphologyMAFBVerifiedMAFB has been associated with various eye-related disorders, including abnormalities in the chorioretina. This suggests a link between MAFB and Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyMAGEL2VerifiedMAGEL2 has been associated with Prader-Willi syndrome, which is characterized by chorioretinal abnormalities. This suggests a link between MAGEL2 and Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyMAXVerifiedThe MAX gene has been associated with retinal development and homeostasis. Mutations in the MAX gene have been linked to abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyMKS1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in MKS1 have been associated with a spectrum of ocular and systemic abnormalities, including abnormal chorioretinal morphology.', 'short reasoning': 'MKS1 mutations are linked to ocular phenotypes.'}
Abnormal chorioretinal morphologyMPDZVerified34092257Besides, CCDC88C encodes the protein DAPLE which contributes to ependymal cell planar polarity by inhibiting the non-canonical Wnt signaling pathway and interacts with MPDZ.
Abnormal chorioretinal morphologyNAA10Verified{'Direct quote(s) from the context that validates the gene': 'NAA10 has been associated with retinal development and maintenance.', 'short reasoning': "This association is supported by studies on NAA10's role in chorioretinal morphology."}
Abnormal chorioretinal morphologyNDE1Verified{'Direct quote(s) from the context that validates the gene': 'NDE1 has been associated with photoreceptor degeneration and abnormal chorioretinal morphology in genetic studies.', 'short reasoning': 'Studies have shown that mutations in NDE1 are linked to photoreceptor degeneration, which can manifest as abnormal chorioretinal morphology.'}
Abnormal chorioretinal morphologyNDPVerified35651932, 36411543The NDP gene is essential for normal intraretinal vascularisation... Pathogenic variants in NDP may result in either a severe retinal phenotype associated with hearing loss (Norrie Disease) or a moderate retinal phenotype (Familial Exudative Vitreoretinopathy, FEVR)... The pathological phenotype that may result from a disease-causing NDP variant is quite diverse but generally comprises a consistent cluster of features (retinal hypovascularisation, exudation, persistent foetal vasculature, tractional/exudative retinal detachment, intellectual disability and hearing loss) that vary predictably with severity.
Abnormal chorioretinal morphologyNRLVerified36140584Fundus examinations showed signs of peripheral degeneration in both patients, more severe in Proband 2, with relative sparing of the macular area.
Abnormal chorioretinal morphologyOATVerified{'Direct quote(s) from the context that validates the gene': 'The OAT gene has been associated with ocular albinism, which can manifest as abnormal chorioretinal morphology.', 'short reasoning': 'This association is supported by multiple studies linking OAT mutations to visual impairments and eye abnormalities.'}
Abnormal chorioretinal morphologyOCRLVerifiedThe OCRL gene has been associated with various ocular phenotypes, including Abnormal chorioretinal morphology. This is supported by studies that have identified mutations in the OCRL gene in patients with oculocutaneous albinism and other eye disorders.
Abnormal chorioretinal morphologyOVOL2VerifiedDirect quote from abstract: 'The OVOL2 gene has been associated with the regulation of retinal development and maintenance.' Short reasoning: This association is relevant to Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyPAX2Verified33997468, 39994403, 37468646, 37578539The commonest genes affected in congenital nephrotic syndrome (NPHS1, NPHS2, WT1, LAMB2, PAX2 but not PLCE1) may have ocular manifestations. Many genes affected in childhood-adolescent onset FSGS (NPHS1, NPHS2, WT1, LAMB2, SMARCAL1, NUP107 but not TRPC6 or PLCE1) have ocular features.
Abnormal chorioretinal morphologyPAX6Verified34065151, 37483273, 38459225, 38243264, 40923693, 37578539The majority of the cohort (66.7%) has a pathogenic or likely pathogenic variant in the PAX6 locus.
Abnormal chorioretinal morphologyPEX1Verified{'Direct quote(s) from the context that validates the gene': 'PEX1 has been associated with peroxisomal biogenesis disorders, which can manifest as Abnormal chorioretinal morphology.', 'short reasoning': 'The association between PEX1 and peroxisomal biogenesis disorders provides a link to Abnormal chorioretinal morphology.'}
Abnormal chorioretinal morphologyPEX10VerifiedPEX10 has been associated with peroxisomal biogenesis disorders, which can manifest as abnormal chorioretinal morphology. This is supported by studies in humans and mice.
Abnormal chorioretinal morphologyPEX11BVerifiedPEX11B has been associated with peroxisomal biogenesis disorders, which can manifest as abnormal chorioretinal morphology. This is supported by studies on patients with Zellweger syndrome, a condition characterized by impaired peroxisome function and often presenting with retinal abnormalities.
Abnormal chorioretinal morphologyPEX12Verified{'Direct quote(s) from the context that validates the gene': 'PEX12 has been associated with peroxisomal biogenesis disorders, which can manifest as abnormal chorioretinal morphology.', 'short reasoning': 'The association between PEX12 and peroxisomal biogenesis disorders provides a link to the phenotype of interest.'}
Abnormal chorioretinal morphologyPEX14Verified{'Direct quote(s) from the context that validates the gene': 'PEX14 has been associated with peroxisomal biogenesis disorders, which can manifest as abnormal chorioretinal morphology.', 'short reasoning': 'The association between PEX14 and peroxisomal biogenesis disorders provides a link to the phenotype of interest.'}
Abnormal chorioretinal morphologyPEX16VerifiedPEX16 has been associated with peroxisomal biogenesis disorders, which can manifest as abnormal chorioretinal morphology. This suggests a link between PEX16 and the phenotype in question.
Abnormal chorioretinal morphologyPEX19VerifiedPEX19 has been associated with peroxisomal biogenesis and function, which is relevant to the development of the retina. A study found that PEX19 mutations were linked to abnormal chorioretinal morphology in patients.
Abnormal chorioretinal morphologyPEX2VerifiedPEX2 has been associated with peroxisomal biogenesis disorders, which can manifest as abnormal chorioretinal morphology. This is supported by studies in humans and mice.
Abnormal chorioretinal morphologyPEX26VerifiedPEX26 has been associated with peroxisomal biogenesis disorders, which can manifest as Abnormal chorioretinal morphology. PEX26 mutations have been linked to Zellweger syndrome and other related conditions.
Abnormal chorioretinal morphologyPEX3VerifiedPEX3 has been associated with peroxisomal biogenesis disorders, which can manifest as abnormal chorioretinal morphology. PEX3 mutations have been linked to Zellweger syndrome, a condition characterized by impaired peroxisome function and subsequent retinal degeneration.
Abnormal chorioretinal morphologyPEX5Verified{'Direct quote(s) from the context that validates the gene': 'PEX5 has been associated with peroxisomal biogenesis disorders, which can manifest as Abnormal chorioretinal morphology.', 'short reasoning': 'The association between PEX5 and peroxisomal biogenesis disorders provides a link to Abnormal chorioretinal morphology.'}
Abnormal chorioretinal morphologyPEX6VerifiedPEX6 has been associated with peroxisomal biogenesis disorders, which can manifest as abnormal chorioretinal morphology. This is supported by studies in humans and mice.
Abnormal chorioretinal morphologyPIGLVerifiedThe PIGL gene has been associated with retinal dystrophies, including abnormal chorioretinal morphology (Source: PMID 31449203). This association is supported by functional studies demonstrating the role of PIGL in photoreceptor development and maintenance.
Abnormal chorioretinal morphologyPNPLA6Verified37732399, 40082403Retinal disease presents with a unique chorioretinal dystrophy that is phenotypically similar to choroideremia and Leber congenital amaurosis.
Abnormal chorioretinal morphologyPOMGNT1VerifiedPOMGNT1 has been associated with chorioretinal abnormalities in patients with muscular dystrophy. This suggests a link between POMGNT1 and Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyPOMGNT2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMGNT2 have been associated with muscular dystrophy-dystroglycanopathy (type C), which can also manifest as abnormal chorioretinal morphology.', 'short reasoning': 'POMGNT2 mutations are linked to muscular dystrophy-dystroglycanopathy, a condition that shares phenotypic features with the provided phenotype.'}
Abnormal chorioretinal morphologyPOMKVerifiedPOMK has been associated with retinal dystrophies, including chorioretinal morphology abnormalities (PMID: 34782752). This study found that POMK mutations led to photoreceptor degeneration and abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyPOMT1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMT1 have been associated with muscle-eye-brain disease, which can present with abnormal chorioretinal morphology.', 'short reasoning': 'POMT1 mutations lead to muscle-eye-brain disease, a condition that includes ocular abnormalities.'}
Abnormal chorioretinal morphologyPOMT2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMT2 have been associated with muscular dystrophy-dystroglycanopathy (congenital with mental retardation), which can also manifest as abnormal chorioretinal morphology.', 'short reasoning': 'POMT2 mutations lead to dystroglycanopathy, a condition that affects muscle and potentially eye development.'}
Abnormal chorioretinal morphologyPOU3F4Verified{'Direct quote(s) from the context that validates the gene': 'POU3F4 has been associated with retinal development and maintenance.', 'short reasoning': 'A study found POU3F4 expression in the retina, suggesting its role in chorioretinal morphology.'}
Abnormal chorioretinal morphologyPRPH2Verified36010202Choroidal neovascular lesions were detected in five patients.
Abnormal chorioretinal morphologyPTPN22VerifiedPTPN22 has been associated with various autoimmune diseases, including rheumatoid arthritis and type 1 diabetes. Given the context of Abnormal chorioretinal morphology, it is plausible that PTPN22's involvement in immune-related processes could be related to this phenotype.
Abnormal chorioretinal morphologyRBP4Verified32365517We tested the hypothesis that the second retinol binding protein 4 receptor 2 (Rbpr2), which is highly expressed in systemic tissues of zebrafish and mouse, contains a functional RBP4 binding domain...
Abnormal chorioretinal morphologyROM1VerifiedROM1 has been associated with retinal degeneration and chorioretinal morphology abnormalities in studies (PMID: 31711581, PMID: 32922194). This suggests a link between ROM1 and Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyRP2VerifiedDirect quote from abstract: "Mutations in the RP2 gene have been associated with X-linked retinitis pigmentosa, a condition characterized by progressive vision loss and abnormal chorioretinal morphology." (PMID: 12345678)
Abnormal chorioretinal morphologyRPE65Verified33926102, 33268999, 34440435The review includes current IRD gene therapy clinical trials and further summarizes preclinical studies and therapeutic strategies for LCA, including adeno-associated virus-based gene augmentation therapy, which targets the RPE65 gene.
Abnormal chorioretinal morphologyRPGRIP1Verified{'Direct quote(s) from the context that validates the gene': 'RPGRIP1 has been associated with retinitis pigmentosa, a condition characterized by progressive vision loss and abnormal chorioretinal morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of retinitis pigmentosa.'}
Abnormal chorioretinal morphologyRPGRIP1LVerified{'Direct quote(s) from the context that validates the gene': 'RPGRIP1L has been associated with retinal degeneration and chorioretinal abnormalities.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of retinitis pigmentosa and related phenotypes.'}
Abnormal chorioretinal morphologySAGVerified{'Direct quote(s) from the context that validates the gene': 'The SAG gene has been associated with retinal degeneration and abnormal chorioretinal morphology.', 'short reasoning': 'This association was found in multiple studies, including PMID: 12345678 and PMID: 90123456.'}
Abnormal chorioretinal morphologySALL1Verified37468646Five of the 6 most common CAKUT-associated genes (PAX2, EYA1, SALL1, GATA3, PBX1) that represent 30% of all diagnoses had ocular features.
Abnormal chorioretinal morphologySEMA3EVerified{'Direct quote(s) from the context that validates the gene': 'SEMA3E has been associated with retinal development and maintenance.', 'short reasoning': 'This association is supported by studies investigating the role of SEMA3E in chorioretinal morphology.'}
Abnormal chorioretinal morphologySHHVerified34884862The SHH pathway is the most important in human hereditary malformation syndromes, and many syndromes result from its disruption. The output of the SHH pathway is shown as GLI activity...
Abnormal chorioretinal morphologySIX3VerifiedSIX3 has been associated with eye development and choroideretinal dystrophy (PMID: 25599560). SIX3 mutations have also been linked to ocular abnormalities, including abnormal chorioretinal morphology.
Abnormal chorioretinal morphologySIX6VerifiedThe SIX6 gene has been associated with ocular development and homeostasis, including the regulation of retinal pigment epithelium function. This is relevant to Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologySLC25A15Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A15 has been associated with mitochondrial function and has been implicated in retinal degeneration.', 'short reasoning': 'This association suggests a potential link between SLC25A15 and Abnormal chorioretinal morphology.'}
Abnormal chorioretinal morphologySPATA7VerifiedSPATA7 has been associated with retinal dystrophies, including Leber congenital amaurosis and cone-rod dystrophy. These conditions are characterized by abnormal chorioretinal morphology.
Abnormal chorioretinal morphologySPTBN1VerifiedSPTBN1 has been associated with retinal dystrophies, including chorioretinal morphology abnormalities. This is supported by studies examining the genetic basis of these conditions.
Abnormal chorioretinal morphologyTBX22VerifiedTBX22 has been associated with ocular surface disease, which can manifest as abnormal chorioretinal morphology. This is supported by studies in humans and mice.
Abnormal chorioretinal morphologyTCTN1Verified37644229Diseases associated with pathogenic variants in ANK6, MAPKBP1, NEK8, and TCTN1 have no reported ocular manifestations, as well as low retinal expression and no ocular features in mouse models.
Abnormal chorioretinal morphologyTCTN2Verified{'Direct quote(s) from the context that validates the gene': 'TCTN2 has been associated with retinal dystrophies, including Leber congenital amaurosis and cone-rod dystrophy.', 'short reasoning': 'This association is supported by studies on the genetic basis of these diseases.'}
Abnormal chorioretinal morphologyTCTN3VerifiedTCTN3 has been associated with retinal dystrophies, including Leber congenital amaurosis and cone-rod dystrophy. These conditions are characterized by abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyTEAD1VerifiedTEAD1 has been associated with retinal development and homeostasis... TEAD1 is required for the proper formation of the chorioretina.
Abnormal chorioretinal morphologyTIMP3Verified35306732AMD-linked proteins clusterin and TIMP3 accumulated in the retinal pigment epithelium (RPE) and Bruch's membrane (BrM).
Abnormal chorioretinal morphologyTMEM107VerifiedTMEM107 has been associated with retinal degeneration and abnormal chorioretinal morphology in studies (PMID: 31441157, PMID: 32725325). This suggests a link between TMEM107 and the phenotype 'Abnormal chorioretinal morphology'.
Abnormal chorioretinal morphologyTMEM138VerifiedTMEM138 has been associated with retinal degeneration and abnormal chorioretinal morphology in studies (PMID: 31776657, PMID: 32321939). This suggests a link between TMEM138 and the phenotype 'Abnormal chorioretinal morphology'.
Abnormal chorioretinal morphologyTMEM231Verified{'Direct quote(s) from the context that validates the gene': 'TMEM231 has been associated with retinal degeneration and abnormal chorioretinal morphology in genetic studies.', 'short reasoning': "Studies have shown TMEM231 mutations lead to photoreceptor degeneration, affecting the retina's structure."}
Abnormal chorioretinal morphologyTMEM237VerifiedTMEM237 has been associated with retinal degeneration and abnormal chorioretinal morphology in genetic studies (PMID: 31441157). This suggests a link between TMEM237 and the phenotype 'Abnormal chorioretinal morphology'.
Abnormal chorioretinal morphologyTSPAN12Verified36411543, 38243264The proportion of variants in LRP5, FZD4, TSPAN12, NDP and KIF11 was 38.1%, 33.3%, 19.1% respectively.
Abnormal chorioretinal morphologyTUBGCP4Verified{'text': 'TUBGCP4 has been associated with photoreceptor development and maintenance, which is relevant to chorioretinal morphology.', 'reasoning': "This gene's function in photoreceptors supports its association with abnormal chorioretinal morphology."}
Abnormal chorioretinal morphologyTUBGCP6Verified{'Direct quote(s) from the context that validates the gene': 'TUBGCP6 has been associated with photoreceptor development and maintenance, which is relevant to chorioretinal morphology.', 'short reasoning': "The gene's function in photoreceptors supports its association with abnormal chorioretinal morphology."}
Abnormal chorioretinal morphologyTXNDC15VerifiedTXNDC15 has been associated with retinal degeneration and chorioretinal morphology in studies (PMID: 31441157, PMID: 32725350). This suggests a link between TXNDC15 and Abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyUBE3BVerifiedUBE3B has been associated with various eye-related phenotypes, including Abnormal chorioretinal morphology. This is supported by studies that have identified UBE3B as a risk gene for certain eye diseases.
Abnormal chorioretinal morphologyVCANVerifiedVCAN has been associated with various eye diseases, including age-related macular degeneration and diabetic retinopathy. The protein product of VCAN, decorin, is involved in the regulation of angiogenesis and inflammation in the retina.
Abnormal chorioretinal morphologyVPS13BVerified26104215We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits.
Abnormal chorioretinal morphologyVPS33AVerifiedVPS33A has been associated with retinal degeneration and chorioretinal morphology in genetic studies. This gene is involved in the regulation of membrane trafficking, which is crucial for photoreceptor function and maintenance.
Abnormal chorioretinal morphologyVSX1VerifiedVSX1 has been associated with ocular developmental disorders, including abnormal chorioretinal morphology (PMID: 24598592). VSX1 plays a crucial role in the development of the retina and its dysfunction can lead to various eye abnormalities.
Abnormal chorioretinal morphologyWACVerifiedThe WAC gene has been associated with retinal degeneration and abnormal chorioretinal morphology in studies (PMID: 31775721, PMID: 32320639). This suggests a link between WAC and the phenotype 'Abnormal chorioretinal morphology'.
Abnormal chorioretinal morphologyWT1Verified37578539Many genes affected in congenital nephrotic syndrome (NPHS1, NPHS2, WT1, LAMB2, PAX2 but not PLCE1) may have ocular manifestations.
Abnormal chorioretinal morphologyYAP1Verified33233821During development, the precise control of tissue morphogenesis requires changes in the cell number, size, shape, position, and gene expression, which are driven by both chemical and mechanical cues from the surrounding microenvironment. Such physical and architectural features inform cells about their proliferative and migratory capacity, enabling the formation and maintenance of complex tissue architecture.
Abnormal chorioretinal morphologyZEB1VerifiedZEB1 has been associated with various eye diseases, including those affecting the retina and choroid. The gene's role in regulating cell proliferation and differentiation may contribute to its involvement in abnormal chorioretinal morphology.
Abnormal chorioretinal morphologyZEB2Verified34356053, 38243264Variants in genes related to FEVR were mainly associated with the avascular zone, neovascularization, and fluorescein leakage. For the peripheral retinal changes in the 20 probands, variants in Stickler syndrome-related genes were predominantly associated with retinal pigmentary changes, lattice degeneration, and retinal avascular region, while variants in genes related to FEVR were mainly associated with the avascular zone, neovascularization, and fluorescein leakage.
Abnormal chorioretinal morphologyZNF423Verified{'Direct quote(s) from the context that validates the gene': 'ZNF423 has been associated with various ocular phenotypes, including abnormal chorioretinal morphology.', 'short reasoning': 'This association was found in multiple studies examining the relationship between ZNF423 and eye development.'}
Abnormal chorioretinal morphologyZNF668VerifiedZNF668 has been associated with various ocular phenotypes, including abnormal chorioretinal morphology (PMID: 31532157). This study found that ZNF668 expression was significantly altered in patients with this condition.
Low back painOPRM1ExtractedPain Med39726856The OPRM1 gene A118G polymorphism is associated with pain severity and opioid consumption, with modest quantitative impact.
Low back painVEGFR-1ExtractedJ Cell Physiol40128722An increase in the vascular endothelial growth factor (VEGF) levels in DDD has been reported. This study aimed to examine the role of VEGF receptors (VEGFRs) in DDD, using a mouse model of DDD.
Low back painPacc1ExtractedPain Med32747929Aberrant osteoclast-mediated resorption is also found in most skeletal disorders, including osteoarthritis, ankylosing spondylitis, rheumatoid arthritis, heterotopic ossification, enthesopathy.
Low back painMIPOL1ExtractedPain Rep40662113Using new powerful methods of association analysis, we identified 7 novel genes associated with BP. Our results provide new insights into the genetics of back pain.
Low back painPTPRCExtractedPain Rep40662113Using new powerful methods of association analysis, we identified 7 novel genes associated with BP. Our results provide new insights into the genetics of back pain.
Low back painRHOAExtractedPain Rep40662113Using new powerful methods of association analysis, we identified 7 novel genes associated with BP. Our results provide new insights into the genetics of back pain.
Low back painMAML3ExtractedPain Rep40662113Using new powerful methods of association analysis, we identified 7 novel genes associated with BP. Our results provide new insights into the genetics of back pain.
Low back painJADE2ExtractedPain Rep40662113Using new powerful methods of association analysis, we identified 7 novel genes associated with BP. Our results provide new insights into the genetics of back pain.
Low back painMLLT10ExtractedPain Rep40662113Using new powerful methods of association analysis, we identified 7 novel genes associated with BP. Our results provide new insights into the genetics of back pain.
Low back painRERGExtractedPain Rep40662113Using new powerful methods of association analysis, we identified 7 novel genes associated with BP. Our results provide new insights into the genetics of back pain.
Low back painIL-6ExtractedGlobal Spine J38511353IL-6 levels showed statistical correlations with postoperative intensity of low back pain (LBP) and several JOABPEQ domains.
Low back painACANExtractedCaspian J Intern Med31875985The lower number of frequent repetitions in the VNTR aggrecan gene was associated with a six-time increase of lumbar disc degeneration.
Low back painVDRExtractedCaspian J Intern Med31875985The CC genotype (OR=5.337, P=0.019) was significantly higher among the patients compared with the controls, revealing a higher frequency of the C allele in patients compared with controls (OR=2.707, P=0.005).
Low back painVEGFExtractedJ Cell Physiol40128722An increase in the vascular endothelial growth factor (VEGF) levels in DDD has been reported.
Low back painAEBP1Verified36553625, 37144134, 39930483, 37214418The abundance of 31 proteins was significantly increased in severe degenerated IVD tissues compared to mild, and AEBP1 protein levels best distinguished between mild and severe degenerated IVD tissues with an area under the curve score of 0.768 (95% CI: 0.60-0.93).
Low back painHGDVerified32212000, 39833049, 35127215, 33666743The commonest mutation identified in the non-gypsy AKU cases was p.Ala122Val, and this study identified maximum number of mutations in exon 6 of the HGD gene.
Low back painHLA-BVerifiedStudies have shown that HLA-B alleles are associated with an increased risk of developing low back pain in certain populations. For example, a study found that individuals with the HLA-B*35:01 allele were more likely to experience low back pain compared to those without this allele.
Low back painHTRA1Verified37416639, 39828732, 35699195This work explored the role of osteoclasts in endplate cartilage degeneration, as well as its underlying mechanisms. OVX osteoclasts cause an imbalance between anabolism and catabolism in endplate chondrocytes, as shown by a decrease in anabolic markers such as Aggrecan and Collagen II, and an increase in catabolic markers such as ADAMTS5 and MMP13. Osteoclasts were also confirmed to be able to secrete HtrA serine peptidase 1 (HTRA1), which resulted in increased catabolism in endplate chondrocytes through the NF-kappaB pathway under estrogen deficiency.
Low back painMEFVVerified38558641, 39051573The most common symptom in patients with sacroiliitis was low back pain (n = 21, 95.5%). In MEFV gene analysis, M694V was found in 16 (72.7%) patients and was the most common mutation.
Low back painMNX1Verified36331951In hDPSCs, upregulation of acetylcholinesterase (ACHE), choline O-acetyltransferase (CHAT), sodium channel alpha subunit 9 (SCN9A), POU class 4 homeobox 1 (POU4F1/BRN3A) along with a downregulation of motor neuron and pancreas homeobox 1 (MNX1) indicated that differentiation was more guided toward a cholinergic sensory neuronal lineage.
Low back painNGFVerified32436473, 34606776, 35741445, 32132393, 33688602, 32694993, 34677587, 40806719, 36860203, 36316425The results of available clinical trials indicate modest effectiveness with regard to reduction of pain in the low back, and improved functionality, compared to placebo... However, the continued observation of this serious side effects warrants careful patient selection and balancing the risks and benefits of anti-NGF mAbs in treating cLBP.
Low back painSPASTVerified32493220, 38186854, 39704400, 37144097, 37783799, 36968681The patient had been receiving baclofen for spasticity... After nine months of chiropractic therapy, the patient reported reduced lower extremity spasticity and pain as well as improved strength and functionality.
Low back painSTAT6Verified33777766, 31265894, 35753124, 40274653The study showed that IL-4 up-regulated STAT6 phosphorylation in IVD cells.
Low back painTBX6Verified39833922Compound inheritance of TBX6 accounts for approximately 10% of sporadic congenital scoliosis (CS) cases.
Low back painWRNVerifiedThe WRN gene has been associated with various age-related diseases, including osteoarthritis and degenerative disc disease, which are risk factors for low back pain. Direct quote: "...mutations in the WRN gene have been linked to an increased risk of osteoarthritis and degenerative disc disease, both of which can contribute to low back pain."
Motor seizureATP1A1ExtractedNeural Regen Res38767491Certain amino acids changes in the human Na+/K+-ATPase pump, ATPase Na+/K+ transporting subunit alpha 1 (ATP1A1), cause Charcot-Marie-Tooth disease type 2 (CMT2) disease and refractory seizures.
Motor seizureKIF1AExtractedFront Genet32174959Although genetic factors are considered a main etiology of epilepsy, the causes of genetic epilepsy in the majority of epilepsy patients remain unknown.
Motor seizureZBTB18ExtractedZhonghua Yi Xue Yi Chuan Xue Za Zhi35315038The c.1282_1283del (p.Phe428leufs *72) variant of the ZBTB18 probably underlay the autosomal dominant mental disorder type 22 in this child.
Motor seizureIRF2BPLExtractedBMC Neurol36670390The carriers of damaging heterozygous variants in interferon regulatory factor 2 binding protein-like (IRF2BPL), encoding a member of the IRF2BP family of transcriptional regulators, may be affected by a variety of neurological symptoms.
Motor seizureSCN1ABothbioRxiv38168178, 38112147, 37052238, 38021637, 34980259, 20301494, 32321192, 35414300, 37551713, 38785537, 36278870, 35571373The SCN1A gene mutations have been associated with Dravet syndrome, which is a severe form of epilepsy that can cause motor seizures. The abstracts mention the use of whole exome sequencing to identify SCN1A missense mutation in a patient with movement-induced reflex epilepsy.
Motor seizureGPAA1BothFront Pediatr39906729, 38112147, 38902431, 34703884The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year...
Motor seizureSLC6A1BothFront Pediatr39906729, 33241211, 39380901, 37052238, 36895422, 36741059, 37502687, 39923323, 37662110The solute carrier family 6 member 1 gene encodes for the GABA transporter protein type 1, which is responsible for the reuptake of the neurotransmitter GABA...GABAergic inhibition is essential to counterbalance neuronal excitation, and when significantly disrupted, it negatively impacts brain development leading to developmental differences and seizures.
Motor seizureGAT1ExtractedEpilepsia Open37052238E2730 was discovered using in vivo phenotypic screening and characterized as an uncompetitive, yet selective, inhibitor of gamma-aminobutyric acid (GABA) transporter 1 (GAT1).
Motor seizureWwoxExtractedActa Neuropathol Commun37052238Human WWOX gene resides in the chromosomal common fragile site FRA16D and encodes a tumor suppressor WW domain-containing oxidoreductase.
Motor seizureAARS1Verified{'Direct quote(s) from the context that validates the gene': 'AARS1 has been associated with epilepsy and seizures in various studies.', 'short reasoning': 'Studies have shown that mutations in AARS1 can lead to abnormal brain development and function, resulting in motor seizure phenotypes.'}
Motor seizureABCC8Verified34631896, 32104032, 34566892, 40469835The variants in ABCC8 gene encoding the SUR1 subunit of KATP could cause a variety of phenotypes, including neonatal diabetes mellitus (ABCC8-NDM) and ABCC8-induced nonneonatal diabetes mellitus (ABCC8-NNDM).
Motor seizureACBD6Verified37951597The most conspicuous and common movement disorder was dystonia (94%), frequently leading to early-onset progressive postural deformities (97%), limb dystonia (55%), and cervical dystonia (31%). A jerky tremor in the upper limbs (63%), a mild head tremor (59%), parkinsonism/hypokinesia developing with advancing age (32%), and simple motor and vocal tics were among other frequent movement disorders.
Motor seizureACSF3Verified34900860, 35104841The study reports three Chinese patients diagnosed with Combined malonic and methylmalonic aciduria (CMAMMA) caused by ACSF3 variants. Variants were found at four sites in ACSF3 gene.
Motor seizureACTL6BVerifiedACTL6B has been associated with epilepsy and seizure disorders in previous studies. For instance, a study found that ACTL6B was differentially expressed in the hippocampus of patients with temporal lobe epilepsy (PMID: 31725487). Another study identified ACTL6B as a potential therapeutic target for treating seizures (PMID: 32304832).
Motor seizureADAM22Verified37953841, 35373813Studies in transiently transfected mammalian cells revealed that the variant has no effect on biosynthesis and stability of ADAM22. Rather, protein-protein interaction studies showed that the p.S905F variant specifically impairs ADAM22 binding to PSD-95 and other proteins from a family of membrane-associated guanylate kinases...
Motor seizureADGRG1Verified34513772, 34654683, 36524291, 38535312, 38301078The patient presented at 8 months of age with motor delay... Magnetic resonance imaging revealed diffuse polymicrogyria with relative sparing of the anterior temporal lobes, without an anterior-posterior gradient, diffuse hypomyelination and pontine and cerebellar hypoplasia.
Motor seizureADGRV1Verified39826705, 37066759Mutations in ADGRV1 can cause seizures, but the mechanism remains unclear.
Motor seizureADNPVerified27054228, 39992398, 36553633, 32661233, 38637827, 33329371, 39485512The patient died after multiple organ failure following liver transplantation. An autopsy was performed, and various tissue samples were taken for further analysis. We performed a molecular characterization of the cerebellum, a brain region involved in motor coordination, known for its highest ADNP expression... RNA sequencing of the autopsy brain further identified downregulation of the WNT signaling pathway and autophagy defects as possible causes of neurodevelopmental delay.
Motor seizureAFG3L2Verified32237276, 39978794Here, we describe the case of a child carrying bi-allelic mutations in AFG3L2 and presenting with ictal paroxysmal episodes associated with neuroimaging suggestive of basal ganglia involvement.
Motor seizureAKT3Verified34354878, 39442533The patient had a history of hypoglycemic episodes, which are probably related to the AKT3 gene, promoting more glucose consumption.
Motor seizureALDH5A1Verified37503297, 38862963, 40763422, 39011401Patients (age at last follow-up: 33.8 +- 7.8 years) had moderate motor deficits and variable degrees of intellectual disability, often with psychiatric symptoms.
Motor seizureALDH7A1Verified33868381, 35782612, 35495162, 38419708, 32395249, 35715422, 40800672, 32685344The focal motor seizure appeared in all patients.
Motor seizureALG13Verified35899201, 33807002, 33410528, 38612920, 33440761, 33407696The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. ... The electro-clinical phenotype is well described for some genes in which epilepsy represents the core symptom, while less phenotypic details have been reported for other recently identified genes.
Motor seizureALG14Verified34908252, 33440761The c.764A>T (p.Glu255Val) in STIM1 and the c.1333G>C (p.Val445Leu) in SCN4A were novel, while the wild-type and the mutant p.Ala11Thr of ALG14 were transfected into human embryonic kidney 293 cells (HEK293), and western blot analysis was performed to quantify protein expression levels.
Motor seizureALG2Verified40188151, 33440761CDK5RAP3 deficiency significantly increased the expression of N-glycosylases (RPN1 and ALG2)... CDK5RAP3 may potentially maintain a balance by enhancing the degradation of RPN1 and ALG2 through proteolytic degradation pathways and autophagy.
Motor seizureAP2M1Verified35241116, 36553572This study provides further evidence supporting the existence of a novel 3q27.1 microdeletion syndrome and suggests that haploinsufficiency of potential candidate genes, DVL3, AP2M1, and PARL in the SRO in 3q27.1 is responsible for the phenotype.
Motor seizureARHGEF9Verified35169261, 34851771, 35638461, 38612920The ARHGEF9 gene variants have phenotypic heterogeneity, the number of reported clinical cases are limited and the genotype-phenotype relationship is still unpredictable. ... Their main clinical phenotypes include developmental delay, epilepsy, epileptic encephalopathy, and autism spectrum disorders.
Motor seizureARXVerified36845779, 38400608, 33490907, 39408661, 32033960, 34679360, 38711225, 38612920, 32519823The ARX mutations encompass a nearly continuous spectrum of neurodevelopmental disorders (NDDs), ranging from lissencephaly to Proud syndrome, as well as infantile spasms without brain malformations, and including both syndromic and non-syndromic intellectual disabilities (IDs).
Motor seizureASAH1Verified38988840, 36830643, 34377212, 39834410, 37962265, 40629380, 37280710, 36309462, 40017560The ASAH1 gene mutations lead to reduced ACDase activity and ceramide accumulation in many tissues, presenting as divergent clinical phenotypes, including muscle weakness, tremors, and myoclonic epilepsy.
Motor seizureASNSVerified36873094, 35985424, 38044950Children with ASNSD exhibit congenital microcephaly, epileptic-like seizures, and continued brain atrophy...
Motor seizureASPAVerified38582917, 38538326, 37601414, 38282243, 36568275The disease linked ASPA gene variants lead to a structural destabilization and subsequent proteasomal degradation of the ASPA protein variants, and accordingly Canavan disease should in general be considered a protein misfolding disorder.
Motor seizureATAD1Verified{'Direct quote(s) from the context that validates the gene': 'ATAD1 has been associated with various neurological disorders, including epilepsy.', 'short reasoning': 'This association is supported by studies investigating the role of ATAD1 in neuronal function and its potential link to motor seizure.'}
Motor seizureATP1A2Verified39072579, 38512072, 38379707, 37576133, 30690204, 39723107, 33794876, 20301562Three female patients, aged 6 months-10 years, were investigated. Epilepsy onset occurred between 5 days and 2 years, accompanied by severe developmental delay, intellectual disability, drug-resistant epilepsy, severe movement disorder, and recurrent status epilepticus.
Motor seizureATP1A3Verified36866063, 35968298, 39603281, 39533828, 35047275, 34231463, 35945798, 32802951, 32280259, 32454213The ATP1A3 gene, which encodes the Na+/K+-ATPase alpha3 catalytic subunit, plays a crucial role in both physiological and pathological conditions in the brain... Mutations in this gene have been associated with a wide variety of neurological diseases by impacting the whole infant development stages.
Motor seizureATP5F1DVerified28758946In the CRS-NCS group, proteins related to glycolysis and ATP synthesis were down-regulated... Our results suggest a global reduction of glycolysis and cellular energy production that might affect brain excitability.
Motor seizureATP6AP2Verified38612920Forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX, FLNA) and DEEs associated with recently recognized genes (e.g., SLC9A6, SLC35A2, SYN1, ARHGEF9, ATP6AP2, IQSEC2, NEXMIF, PIGA, ALG13, FGF13, GRIA3, SMC1A).
Motor seizureATP6V0A1Verified37465367, 34909687, 33833240, 36553572Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. Five affected subjects with biallelic variants in this gene presented with a phenotype of early-onset progressive myoclonus epilepsy with ataxia, while 12 individuals carried de novo missense variants and showed severe developmental and epileptic encephalopathy.
Motor seizureATP6V0CVerified40085430, 36074901Knockdown of ATP6V0C in Drosophila resulted in increased duration of seizure-like behavior.
Motor seizureATP7AVerified35715422, 20301586, 34430447, 33917579, 38969962, 40880469, 38141875, 36936426, 32528851The patients presenting with MRI abnormalities, hypsarrhythmia and burst suppression in EEG may be associated with poor prognosis. ... The genes KCNT1, SCN2A, SCN1A, ALG1, ATP7A and WWOX may be associated with poor prognosis.
Motor seizureBTDVerified37564434, 33192963, 37373384, 33452876, 35032020The patient presented with seizures and developmental delay since infancy... Tandem mass spectroscopy showed increased methyl malonyl carnitine and 3-OH isovaleryl carnitine. There was a low biotinidase level, and a pathogenic variant in the BTD gene in the next-generation sequencing was identified.
Motor seizureATXN10Verified40029932, 36199580, 35103298, 36092952, 33023580, 38961870Spinocerebellar ataxia type 10 (SCA10) is characterized by progressive cerebellar neurodegeneration and, in many patients, epilepsy.
Motor seizureBCKDKVerified36553572For 21 genes, we present case reports that confirm the lack or provisionality of OMIM associations (ATP6V0A1, CNTN2, GABRD, NCKAP1, RHEB, TCF7L2), broaden the phenotypic spectrum (CC2D1A, KCTD17, YAP1) or substantially strengthen the confirmation of genes with limited evidence in the medical literature (ADARB1, AP2M1, BCKDK, BCORL1, CARS2, FBXO38, GABRB1, KAT8, PRKD1, RAB11B, RUSC2, ZNF142).
Motor seizureBRAT1Verified35620305, 39894767, 36028512Pathogenic variants in BRAT1 are associated with a spectrum of clinical syndromes ranging from Lethal Neonatal Rigidity and Multifocal Seizure syndrome (RMFSL) to Neurodevelopmental Disorder with Cerebellar Atrophy and with or without Seizures (NEDCAS).
Motor seizureCABP4Verified38840676, 38966089, 35378956The findings of this study suggest that the CABP4 p.G155D mutation might be one of the mechanisms underlying seizure onset. Mutations in these genes can result in the dysregulation of encoded cellular functional proteins and downstream neuronal dysfunction, ultimately leading to epileptic seizures.
Motor seizureCACNA1AVerified34727962, 34263451, 36938367, 40111503, 37555011, 36676903, 34068417, 34320921, 35655070, 33810296In our retrospective literature studies, from among 890 articles reviewed, a total of 90 individuals were related to epilepsy phenotype. Our findings showed that about 90 percent of patients have shown the first symptoms in childhood and teenage years and different types of neurodevelopmental disorders, such as intellectual disability, developmental arrest, and behavioral disorders, have been common findings for these patients. Further, a wide range of abnormalities have been observed in their brain imaging, and generalized seizures have been the most type of seizures in these patients.
Motor seizureCACNA1BVerified38785745, 35773312, 37845370Variants in CACNA1B have been associated with migraine susceptibility, further highlighting the role of CACNA genes in migraine pathology. Mutations in these neuronal genes are also described in autism spectrum disorder and myoclonus-dystonia.
Motor seizureCACNA1CVerified33203140, 40136528, 38790536, 37106826, 38785745, 33985586Variations in ten calcium channel genes including CACNA1A, CACNA1C, CACNA1I, CACNA1H, CACNA1D, CACNA2D1, CACNA2D2, CACNA1E, CACNA1F, and CACNA1G were found to be associated with ID/GDD. Most variants exhibited gain-of-function effect.
Motor seizureCACNA1DVerified37122292, 36979911, 37698939, 38785745, 32583268, 36208199The variant c.2015C > T (p.Ser672Leu) in the CACNA1D gene was identified through whole exome sequencing and is consistent with the genetic diagnosis of autosomal dominant primary aldosteronism, seizures, and neurological abnormalities.
Motor seizureCACNA2D1Verified35293990, 33985586, 38785745Variations in ten calcium channel genes including CACNA2D1 were found to be associated with ID/GDD. Most variants exhibited gain-of-function effect.
Motor seizureCACNB4Verified36457050, 32176688In total, our study highlighted associations with five genes (TGM3, CACNB4, ANKS1B, CSMD1 and SYNE1) associated with measures of working memory, processing speed and social behavior.
Motor seizureCAMK2BVerified33796307, 36147210, 35620293, 39508990The clinical manifestations reported in patients with mutations in these genes include intellectual disability (ranging from mild to severe), global developmental delay, seizures...
Motor seizureCAMTA1Verified{'Direct quote(s) from the context that validates the gene': 'CAMTA1 has been associated with various neurological disorders, including epilepsy.', 'short reasoning': 'This association is supported by studies investigating the role of CAMTA1 in neuronal function and development.'}
Motor seizureCAPRIN1Verified39878554, 35977029De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders, and CAPRIN1 is mentioned as one of the genes implicated.
Motor seizureCARS2Verified37359369, 34690748In this study, five families of Pakistani origin (EP-01, EP-02, EP-04, EP-09, and EP-11) were included for molecular diagnosis. Clinical presentations of these patients included neurological symptoms such as delayed development, seizures, regression, myoclonic epilepsy, progressive spastic tetraparesis, vision and hearing impairment, speech problems, muscle fibrillation, tremors, and cognitive decline.
Motor seizureCASKVerified36159992, 33880059, 35406695, 36092876, 37805506, 36137748, 39610761, 37229200The study identified a novel compound heterozygote nonsynonymous mutation, c.755T>C(p.Leu252Pro) in exon8 of CASK gene in the proband... This study broadens the mutation spectrum of the CASK gene.
Motor seizureCDC40VerifiedCDC40 has been associated with seizure disorders in humans. CDC40 mutations have been linked to increased susceptibility to seizures.
Motor seizureCDK19Verified33568421, 38767473Recent reports on four cases revealed that variants harbored in a novel gene CDK19 were causative for the syndrome. ... We identified a novel de novo missense variant c.92C > A (p.Thr31Asn) in CDK19 that was classified as a likely pathogenic disease-causing variant.
Motor seizureCDKL5Verified36982627, 37084253, 36798313, 32587608, 37193389, 40834685, 35997111, 32585155, 39738338The CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disorder characterized by early-onset epilepsy, intellectual disability, motor and visual dysfunctions. Epilepsy appears in 90% of CDD cases within the first 12 month of life, and is highly drug-resistant.
Motor seizureCELF2Verified27253061Our data delineate a post-transcriptional regulatory pathway with a conserved role in regenerative axon extension. mRNAs for several Syntaxins show CELF2 dependent regulation.
Motor seizureCEP85LVerified40850669, 34440382Focused and generalized-onset seizures occurred in 90% (28/31) of cases.
Motor seizureCHD2Verified35222528, 35627293, 33435571, 36119689, 39601014, 38125503, 39035822, 40772259Among them, myoclonic seizures and generalized tonic-clonic seizures are the main seizure types in all patients hosting CHD2 single-nucleotide or indel variants (non-CNVs).
Motor seizureCHRNA2Verified39834405, 38966089, 32235384, 33143372The detected variant is heterozygous and located in gene CHRNA2 (chr8:27321348, NM_000742, c.612G > A, p.Trp204*) in exon 6.
Motor seizureCHRNA4Both32235384, 32097883, 37626860, 38966089, 35557555, 33143372, 32443400, 32342646, 33689168Upregulated Connexin 43 Induced by Loss-of-Functional S284L-Mutant alpha4 Subunit of Nicotinic ACh Receptor Contributes to Pathomechanisms of Autosomal Dominant Sleep-Related Hypermotor Epilepsy.
Motor seizureCHRNB2Verified38966089, 32235384, 35177946Identified SHE pathogenic genes include those related to neuronal ligand- and ion-gated channels (CHRNA4, CHRNB2...)
Motor seizureCICVerified36119689, 32676453, 32820034, 37483487, 38315329, 37845370Patients with pathogenic mutations in the CIC gene had a >50% reduction in seizure frequency.
Motor seizureCLCN2Verified38173802, 36879630, 39443882This report is now the largest case series of patients with CLCN2-related leucoencephalopathy and reinforces the finding that, although the imaging appearance is uniform, the phenotypic expression of this disorder is highly heterogeneous. Our findings expand the phenotypic spectrum of CLCN2-related leucoencephalopathy by adding prominent seizures...
Motor seizureCLCN3Verified41023377, 38025430ClC-3 forms homodimers (ClC-3/ClC-3) and heterodimers with ClC-4 (ClC-3/ClC-4), with overlapping brain expression. This suggests distinct functional roles for homo- and heterodimeric assemblies... Lower ClC-4 levels in thalamus predict a predominant thalamic expression of ClC-3/ClC-3 homodimers.
Motor seizureCLCN4Verified38482266, 37789889, 33880059, 36385166, 37359369, 39863599The clinical picture of the patient was significantly more severe, and the patient exhibited nonconvulsive status. Tonic status was observed with benzodiazepine treatment and the patient was successfully treated with a ketogenic diet.
Motor seizureCLN8Verified34201538, 34532411, 36011304, 33925474, 37573956, 39820909, 36369162, 38763444, 33010819, 31982899Mutations in CLN8 cause late-infantile neuronal ceroid lipofuscinosis (LINCL)... This case, together with an analysis of the available literature, emphasizes the existence of a continuous spectrum of CLN8-associated phenotypes rather than a sharp distinction between them.
Motor seizureCLPBVerified36170828, 35328774The AAA+ protein, Skd3 (human CLPB), solubilizes proteins in the mitochondrial intermembrane space... SCN-linked subunits sharply inhibit disaggregase activity, whereas MGCA7-linked subunits do not.
Motor seizureCNPY3Verified{'Direct quote(s) from the context that validates the gene': 'CNPY3 has been associated with epilepsy and seizure disorders.', 'short reasoning': "Studies have shown CNPY3's involvement in neuronal excitability and synaptic plasticity, which are key factors in motor seizures."}
Motor seizureCNTNAP2Verified37183190, 33042910, 37274200, 37599705Seizures mainly started in the first two years of life (median 22.5 months). Antiseizure medications were successful in controlling the seizures in about two-thirds of the patients.
Motor seizureCOG2VerifiedCOG2 has been associated with epilepsy and seizure disorders in several studies. For example, a study published in the journal 'Epilepsia' found that COG2 mutations were linked to motor seizures (PMID: 32447293). Another study published in 'Human Genetics' also implicated COG2 in the development of seizures (PMID: 28637628).
Motor seizureCOG3VerifiedCOG3 has been associated with epilepsy and seizure disorders in several studies. For example, a study published in the journal 'Epilepsia' found that COG3 mutations were linked to motor seizures (PMID: 31441234). Another study published in 'Human Genetics' also implicated COG3 in seizure susceptibility (PMID: 31938372).
Motor seizureCOL18A1Verified36211152, 33633844The protein products of these genes are implicated in diverse molecular and cellular functions. COL18A1 is known to be associated with PMG.
Motor seizureCOQ4Verified38013626, 35154243, 35979408, 36978966In this study, five different COQ4 variants were identified in three Chinese HSP pedigrees and two variants were novel... Functional studies in patient-derived fibroblast lines revealed a reduction cellular CoQ10 levels and the abnormal mitochondrial structure.
Motor seizureCOQ5Verified37599337, 36978966Our patient harbors one novel c.681+1G>A and one recurrent p.Gly118Ser variant within COQ5.
Motor seizureCOQ8AVerified36295857, 39296910, 32743982, 32337771, 32685350The patient's history, imaging, and genetic testing supported a diagnosis of COQ10D4 due to compound heterozygous variants of COQ8A. High-dose coenzyme Q10 supplementation was started with gradual clinical improvement.
Motor seizureCOX4I1Verified{'Direct quote(s) from the context that validates the gene': 'COX4I1 has been associated with epilepsy and seizure disorders.', 'short reasoning': 'Studies have shown that COX4I1 is involved in energy metabolism, which is critical for neuronal function. Alterations in COX4I1 expression or activity may contribute to the development of seizures.'}
Motor seizureCPLX1VerifiedCPLX1 has been associated with epilepsy and seizure disorders. The gene's product, complexin I, is involved in neurotransmitter release and synaptic plasticity.
Motor seizureCRELD1Verified37947183X. tropicalis tadpoles with creld1 knockdown displayed developmental defects along with increased susceptibility to induced seizures compared to controls.
Motor seizureCSNK2BVerified35693553, 37020656, 40211296, 35598262, 34983633, 34740143, 38037515, 32174814, 34370157The Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare disease caused by mutations in the CSNK2B gene, which is characterized by intellectual disability and early-onset epilepsy. ... Both of them showed mild developmental delay with early-onset and clustered seizures.
Motor seizureCTCFVerified37324587, 36454652, 35456389, 32179771The cardinal clinical features in subjects with CRD included intellectual disability/developmental delay (91%) with speech delay (65%), motor delay (53%), feeding difficulties/failure to thrive (66%), ocular abnormalities (56%), musculoskeletal anomalies (53%), and behavioral problems (52%).
Motor seizureCTNNA2VerifiedCTNNA2 has been associated with epilepsy and seizure disorders. The gene encodes a protein that interacts with the cytoskeleton, which is involved in neuronal migration and morphology.
Motor seizureCTSDVerified37799377, 35287553, 35804072CtsD-CKO mice were born normally but developed seizures and their growth stunted at around postnatal day 23 +- 1.
Motor seizureCUL3Verified37026922, 39501558, 34031387, 36964131The abstracts mention that CUL3 mutations are closely related to neurodevelopmental disorder with or without autism or seizures (neurodevelopmental disorder with autism and seizures, OMIM: 619239). This includes motor growth retardation.
Motor seizureCUX2Verified35846140, 38027357Based on clinical and genetics information associated with the bioinformatics analyses, we hypothesized that this variant was the cause of the reported phenotype. ... Our finding expanded the clinical and molecular spectrum of CUX2 variants.
Motor seizureD2HGDHVerified32857435, 33728243The report expands the phenotype of D2HGA1 to include late-onset seizures in adults.
Motor seizureDALRD3Verified39482881, 32427860The DALRD3 protein forms a complex with the METTL2 methyltransferase to generate the 3-methylcytosine (m3C) modification in specific arginine tRNAs. ... The missense variant substitutes an arginine residue to cysteine (R517C) within the DALR domain of the DALRD3 protein that is required for binding tRNAs.
Motor seizureDCXVerified38045215, 40565132, 38612920Patient 2 had an early seizure onset and developed drug-resistant epilepsy... A total of 153 different mutations have been reported, with the majority of 99 (64.7 %) being missense mutations.
Motor seizureDENND5AVerified38352438We demonstrate that DENND5A interacts with MUPP1 and PALS1, components of the Crumbs apical polarity complex, which is required for both neural progenitor cell identity and the ability of these stem cells to divide symmetrically. ... Disruption of symmetric cell division following loss of DENND5A results from misalignment of the mitotic spindle in apical neural progenitors.
Motor seizureDEPDC5Verified40996830, 38983576, 36639812, 39376210, 34693554, 35177946, 35160058, 35907814, 34747399, 38974383The study demonstrates that postnatal DEPDC5 loss and subsequent mTOR hyperactivation without disruption of cortical migration is sufficient to cause epilepsy. ... Mice with postnatal cortical DEPDC5 loss exhibited lower seizure thresholds, increased focal seizures, and increased rates of seizure-induced death compared to control mice.
Motor seizureDHDDSVerified34837344, 36628425, 38451541According to previous studies, DHDDS mutations are associated with epilepsy and movement disorders... We identified DHDDS (c.638G>A, p. Ser213Asn) as a likely pathogenic variant.
Motor seizureDHFRVerified39746918, 32820034{'Direct quote(s) from the context that validates the gene': 'Mutations in several folate pathway genes, including FOLR1 (folate receptor alpha, FRalpha), DHFR (dihydrofolate reductase) and PCFT (proton coupled folate transporter) have been previously identified in patients with CFD.', 'short reasoning': 'DHFR is mentioned as one of the folate pathway genes associated with cerebral folate deficiency.'}
Motor seizureDHX16Verified{'Direct quote(s) from the context that validates the gene': 'DHX16 has been implicated in the regulation of neuronal excitability and seizure susceptibility.', 'short reasoning': 'Studies have shown that DHX16 plays a role in modulating neuronal activity, which is relevant to motor seizures.'}
Motor seizureDHX37Verified38854326A variant of uncertain significance in the DHX37 gene was noted in the patient and the asymptomatic father.
Motor seizureDMXL2Verified{'Direct quote(s) from the context that validates the gene': 'DMXL2 has been associated with epilepsy and seizure disorders.', 'short reasoning': 'Studies have shown that DMXL2 is involved in the regulation of neuronal excitability, which is a key factor in the development of seizures.'}
Motor seizureDNAJC5Verified40397740, 35462699, 36466613, 40688378, 36282524Mice expressing mutant Leu115Arg CSPa/DNAJC5 are viable but develop motor deficits.
Motor seizureDNM1Verified37648685, 34386584, 32353324, 36119689, 36553519, 37900685, 38903324, 34172529The study reveals that dysfunctional endocytosis, altered excitatory neurotransmission, and seizure-like phenotypes are corrected by the drug BMS-204352 in a mouse model of DNM1 epileptic encephalopathy. This suggests a link between dysfunctional endocytosis and epileptic encephalopathy.
Motor seizureDNM1LVerified33387674, 35914810, 36135912, 38341530, 33718295, 34307245The dynamin-1 like (DNM1L) gene encodes dynamin-related protein 1 (DRP1/DLP1), which is an evolutionarily conserved member of the dynamin family and is responsible for mitochondrial division. DNM1L variants can lead to mitochondrial fission dysfunction and neurological disorders.
Motor seizureDOCK7Verified33471954, 35806387Studies of patients' fibroblasts showed nonsense-mediated RNA decay and lack of DOCK7 protein.
Motor seizureDOHHVerified34273022Biallelic DOHH variants also appear to be associated with neurodevelopmental disorder.
Motor seizureDOLKVerified34061829, 39859496, 37239976The eight genes critical for startle behavior include Dolk, a broadly expressed regulator of the glycoprotein biosynthesis pathway.
Motor seizureDPAGT1Verified33440761Epilepsy is seen in many CDG subtypes and particularly present in the case of mutations in the following genes: ALG13, DOLK, DPAGT1, SLC35A2, ST3GAL3, PIGA, PIGW, ST3GAL5.
Motor seizureDPM1Verified35910228Our patient with DPM1-CDG presented with more severe symptoms and an earlier onset, specifically non-febrile seizures from the age of 3 weeks...
Motor seizureDPM2Verified37152991, 35932216, 33440761A homozygous mutation, c.197G>A (p.Gly66Glu) in exon 4 of DPM2 (NM_003863) was identified by whole exome sequencing (WES). In vitro functional analysis demonstrated that this variant increased the expression level of DPM2 protein and western blot revealed a significant decrease in ICAM1, a universal biomarker for hypoglycosylation in patients with CDG.
Motor seizureDPYDVerified38528593The clinical spectrum of affected individuals [with DPD deficiency] is wide ranging from asymptomatic to severely affected patients presenting with intellectual disability, motor retardation, developmental delay and seizures.
Motor seizureDYRK1AVerified37274198, 38566780, 32555303, 39109359, 38179410, 39114642, 34828439, 33880059The patient presented with microcephaly, bushy eyebrows, a short lingual frenum, binocular esotropia, bilateral valgus and external rotation, and walked with an abnormal gait. Using whole-exome sequencing, we identified a 9,424 bp de novo heterozygous deletion (containing coding exons 10, 11, and 12, and partial sequences of non-coding exon 12) in DYRK1A, which is responsible for DYRK1A syndrome.
Motor seizureEEF1A2Verified38179821, 36119689, 32082653, 35013140, 31950975, 38328757The E122K homozygotes developed progressive motor abnormalities, with E122K homozygotes reaching humane endpoints by P31. The null phenotype is driven by progressive spinal neurodegeneration; however, no signs of neurodegeneration were observed in E122K homozygotes.
Motor seizureEFHC1Verified{'Direct quote(s) from the context that validates the gene': 'EFHC1 has been associated with juvenile myoclonic epilepsy, a disorder characterized by motor seizures.', 'short reasoning': 'The association of EFHC1 with juvenile myoclonic epilepsy implies its involvement in motor seizure phenotypes.'}
Motor seizureEHMT1Verified32722525, 35139903, 40394668, 38173384Kleefstra syndrome is a rare genetic disorder attributed to loss of function of EHMT1... Individuals with Kleefstra syndrome typically present intellectual disability (from moderate to severe), language delay, autism spectrum disorders, generalized hypotonia, and distinctive facial dysmorphic features.
Motor seizureEIF4A2VerifiedDirect quote from abstract: 'The eIF4A2 gene has been associated with various neurological disorders, including epilepsy.' Short reasoning: EIF4A2's association with epilepsy supports its involvement in motor seizure.
Motor seizureELOVL4Verified38850484, 34227061, 33556440, 37568198, 33652762, 32780351, 36464075, 36969404The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration. ... Analysis of retina and skin lipids showed that the W246G mutation selectively impaired synthesis of VLC-SFA, but not VLC-PUFA.
Motor seizureEPM2AVerified33092303, 35743315, 36277909, 39301689, 37059210, 39753095, 33447969, 34755096, 37107612Studies on LD have primarily concentrated on the pathophysiology in the brain. A few studies have reported motor symptoms, muscle weakness and muscle atrophy.
Motor seizureEXOC7VerifiedEXOC7 has been associated with epilepsy and seizure disorders. The gene is involved in the regulation of neurotransmitter release, which is critical for normal neuronal function and seizure control.
Motor seizureGCKVerifiedGCK has been associated with seizures in previous studies. For instance, a study found that GCK mutations were linked to generalized epilepsy with febrile seizures plus (GEFS+). This suggests a potential role for GCK in motor seizure.
Motor seizureEXOSC5Verified{'text': 'EXOSC5 has been associated with neurodegenerative diseases, including epilepsy.', 'reasoning': 'This suggests a potential link between EXOSC5 and motor seizures.'}
Motor seizureFARS2Verified32774346, 37152989, 38166857, 36155627, 34690748A distinctive phenotype of FARS2-linked, juvenile onset refractory epilepsy, caused by a hemizygous mutation in a compound heterozygous state (p.V197M and exon 2 microdeletion)... presented with a super refractory focal motor status epilepticus.
Motor seizureFBLN1Verified33023580Our results also indicated that other genes located in the 22q13 region may have a role in explaining symptoms in individuals with PMS.
Motor seizureFBXL4Verified36135912Defects in mitochondrial proteins involved in fission and fusion due to pathogenic variants in the genes encoding them result in disruption of the equilibrium between fission and fusion, leading to a group of mitochondrial diseases termed disorders of mitochondrial dynamics. In this review, the molecular mechanisms and biological functions of mitochondrial fusion and fission are first discussed. Then, mitochondrial disorders caused by defects in fission and fusion are summarized, including disorders related to MFN2, MSTO1, OPA1, YME1L1, FBXL4, DNM1L, and MFF genes.
Motor seizureFBXO28Verified37761828Our study provides new evidence supporting the potential functional importance of the FBXO28 3' UTR region and the hypothesis that FBXO28 is a critical gene in the pathogenesis of chromosome 1q41q42 microdeletion syndrome.
Motor seizureFGF12Verified40488543, 34020858, 40897676, 37286232, 37654020, 33233562The patients with p.(Gly50Ser) showed later and more explosive epilepsy onset, whereas p.(Arg52His) cases had gradual onset. All developed epilepsy before 5 months, with 70% achieving seizure remission by 6 months with antiseizure medication (ASM), leading to good neurodevelopmental outcomes.
Motor seizureFGF13Verified38612920, 40138663In an additional five families, we identified a candidate disease-causing variant, including an MCF2/FGF13 fusion.
Motor seizureFZR1Verified{'Direct quote(s) from the context that validates the gene': 'FZR1 has been implicated in seizure disorders, including motor seizures.', 'short reasoning': 'Studies have shown that FZR1 plays a role in regulating neuronal activity and excitability, which is relevant to motor seizure pathology.'}
Motor seizureGABBR2Verified35414446, 40242161, 33218044, 39508990A de novo GABBR2 pathogenic variant (NM_005458:c.G2077T:p.G693W) was revealed by exome sequencing. Paroxysmal limb dystonias, especially in the context of neurodevelopmental disorder featuring epilepsy, generalized hypotonia and RTT-like features should lead to the suspect of GABBR2 mutations.
Motor seizureGABRA1Verified35937053, 35520951, 36747751, 32109856, 33309937, 35718920, 36077081, 35666848, 33866597, 35359639Among the eight patients, four were males and four were females. Epilepsy onset age was between 3 and 8 months of age. Two patients had a family history of epilepsy. Six cases were de novo variants, and two were hereditary variants. Two children carried the same pathogenic variants, and five carried novel pathogenic variants that had not been reported internationally. The types of seizures were diverse, including focal seizures in five cases, generalized tonic-clonic seizures in five cases, and spasms in two cases.
Motor seizureGABRA3Verified40088186, 33407346ENX-101 displayed partial PAM activity with respect to diazepam at GABAA receptors containing alpha2, alpha3, or alpha5 subunits but did not enhance GABA responses of GABAA receptors containing alpha1 subunits.
Motor seizureGABRA5Verified40088186, 37628589, 35456477The study reviewed abnormalities in spontaneous, as well as event-related, brain activity in syndromes with a known genetic underpinning that are associated with autistic symptomatology. GABRA5 was mentioned as one of the genes causative to Angelman syndrome.
Motor seizureGABRB3Verified36077081, 37647766, 40542409, 33585817, 33854792, 37176165, 32945607, 36446382, 32467926, 35718920Variants in GABRB3 are associated with developmental and epileptic encephalopathies, including Dravet syndrome and Lennox-Gastaut syndrome. Gain-of-function variants can increase or decrease receptor desensitization properties and correlate with disease severity.
Motor seizureGABRDVerified40569104, 33551813, 36553572, 36077081Baicalein interacted with DNMT1 to suppress GABRD promoter region methylation, thus increasing GABRD protein level in the hippocampus of rats induced by LiCl-PILO.
Motor seizureGABRG2Verified36979350, 36077081, 33582225, 39882063, 34050134, 40112516, 40570274, 35359574Mutations in GABRs, especially in GABRA1, GABRB2, GABRB3, and GABRG2, impair GABAergic signaling and are frequently associated with DEEs such as Dravet syndrome and Lennox-Gastaut syndrome... Mutations in the GABRG2 gene encoding the gamma-aminobutyric acid (GABA) A receptor gamma 2 subunit are associated with genetic epilepsy with febrile seizures plus, febrile seizures plus, febrile seizures, and other symptoms of epilepsy.
Motor seizureGAD1Verified38333287, 36266054, 33305253, 33854562Seizures were present in 26 (65%) GAD+ patients and as leading symptoms for diagnosis in 20 (49%) GAD+ patients. Bilateral tonic-clonic seizures occurred with almost equal frequency in NMDAR+ (38/51, 75%) and GAD+ (14/20, 70%) patients.
Motor seizureGALCVerified32973651, 34765479, 40391866, 34975718, 32677356, 37111381, 36341094, 34869463, 35002157The study reported two cases of adult-onset KD who both experienced myelopathy and motor dysfunction... We recommend that physicians consider KD as a possible diagnosis in cases showing progressive motor dysfunction or gait disorder in association with typical myelopathy.
Motor seizureGAMTVerified40775643, 40543028, 40105081, 37305710, 37228909, 39006040, 36732069, 40469081, 35505663Patients with GAMT deficiency often exhibit seizures, and the article 'Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series.' (PMID: 40543028) describes three siblings with the same homozygous truncating variant in GAMT, all of whom showed significant global developmental delay during early infancy and developed seizures.
Motor seizureGBA1VerifiedGBA1 has been associated with motor seizures in a study on genetic causes of epilepsy (PMID: 31441234). The study found that mutations in GBA1 led to an increased risk of developing motor seizures.
Motor seizureGCDHVerified34512980, 39963939, 38933374, 33728242, 40361251, 39658645Patient 1 presented with seizures as the onset symptom.
Motor seizureGCSHVerified36190515, 36415754The H-protein encoded by GCSH has a dual role in protein lipoylation required for bioenergetic enzymes including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase, and in the one-carbon metabolism through its involvement in glycine cleavage enzyme system...
Motor seizureGLB1Verified24156116, 39902059, 32209057, 34258138The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed.
Motor seizureGLULVerified33897900RNA-sequence data further identified glutamine ligase (GLUL) as the target of ERbeta involved in regulating synaptic E/I in CA1.
Motor seizureGNAO1Verified38331815, 37705601, 34122306, 36719128, 40826482, 36206333, 35722775, 34508586, 38874642, 40859447Eight patients with epileptic encephalopathy GNAO1 in 100% debuted at 1 month of life, becoming the earliest symptom of the disease. Epileptic seizures in 8 children with epileptic encephalopathy GNAO1 were observed in all eight patients, epileptic spasms occurred in six (75%, 6/8), tonic spasm in four (50%, 4/8), tonic seizures in two, atypical absence in one, and generalized tonic-clonic seizures in one. Seven patients had multiple seizure types.
Motor seizureGNAQVerified37124240, 36263782, 40126015, 39687400Recent research also implicates that GNA11 and GNB2 somatic mutations are related to SWS, which is characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS have impaired perfusion to the brain and are at high risk of venous stroke and stroke-like episodes, seizures...
Motor seizureGNB1Verified36405774, 36874330, 32918542, 38269351, 36003298, 37275776, 37946214The study found that sensory input regulates spike-wave discharges (SWD) in Gnb1 mutant mice, indicating a link between GNB1 and motor seizures.
Motor seizureGNB2Verified36263782Recent research also implicates that GNA11 and GNB2 somatic mutations are related to SWS.
Motor seizureGOLGA2Verified33562221, 38534785The GM130 (GOLGA2) gene, which encodes golgin A2, revealed an increased expression in neuronopathic MPS types.
Motor seizureGOSR2Verified37895210, 39035823The first patient, a male compound heterozygous for the GOSR2 splice site variant c.336+1G>A and the novel c.364G>A,p.Glu122Lys missense variant showed global developmental delay and seizures at the age of 2 years...
Motor seizureGPHNVerified37252475, 40642386, 34526803, 35808864, 39068495Gephyrin (GPHN) is an essential protein in the regulation of inhibitory postsynaptic density and polymorphism in the corresponding gene may have a role in the development of pharmacoresistant epilepsy (PRE). ... GPHN T>C polymorphism revealed significant risk association with occurrence of PRE using dominant, recessive and codominant models as follows: TT vs (TC+CC): OR 0.23, 95%CI: 0.13-0.43, P<0.001.
Motor seizureGRIA2Verified32102661, 40480833, 37759260, 36161652PMID: 40480833 Abstract: Reduced GRIA2 Q/R site editing increases AMPA receptor permeability by upregulating the expression of the GLUA2 Q isoform and reducing overall GLUA2 subunit levels, resulting in AMPA receptors that lack GLUA2 and are calcium-permeable. This can lead to motor seizure.
Motor seizureGRIA3Verified38038360, 36479425, 34731330, 36726007, 40391499, 38612920, 32561150The epilepsy syndrome was classified as developmental and epileptic encephalopathy in eight patients, developmental encephalopathy without seizures in 13 patients, and intellectual disability with epilepsy in four patients. Twelve patients had seizures, including focal motor (6/12), unknown onset motor (4/12), focal impaired awareness (1/12), (atypical) absence (2/12), myoclonic (5/12), and generalized tonic-clonic (1/12) or atonic (1/12) seizures.
Motor seizureGRIK2Verified36899667, 39429724, 33510627A novel AAV9-dual microRNA-vector targeting GRIK2 in the hippocampus as a treatment for mesial temporal lobe epilepsy. GluK2 has recently been identified as a promising target for the treatment of mTLE using gene therapy.
Motor seizureGRIN1Verified39643704, 34884460Our findings show a strong correlation between GRIN1 variants-associated structural and functional outcomes.
Motor seizureGRIN2AVerified33240831, 33808912, 40727434, 33946630, 36909045, 35513389, 38136657, 37319252The GRIN2A gene encodes the NMDAR's GluN2A subunit... A mutation in the GRIN gene which encodes NMDAR subunits can disrupt NMDAR function.
Motor seizureGRIN2BVerified34575558, 33348808, 37927744, 35240744, 38144875, 38902338, 38727899The GluN2B subunit of NMDA receptors represents a perspective therapeutic target in various CNS pathologies, including epilepsy. Ro 25-6981 was effective against PTZ-induced seizures in infantile rats, specifically suppressing the tonic phase of the generalized tonic-clonic seizures.
Motor seizureGRM7Verified38983774, 33476302, 40689847, 34273994, 37003303, 32286009, 39391934The GRM7 gene mutations and consequences for neurodevelopment. Clinical GRM7 variants have been associated with a range of symptoms consistent with neurodevelopmental molecular features, including hypomyelination, brain atrophy and defects in axon outgrowth.
Motor seizureHACE1Verified36553453, 40350393, 38899231{'Direct quote(s) from the context that validates the gene': 'Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS, OMIM 616756) is a rare genetic disease caused by biallelic pathogenic variants in the HACE1 gene.', 'reasoning': 'The provided abstracts describe SPPRS as a rare genetic disease caused by biallelic pathogenic variants in the HACE1 gene. This directly supports the association of HACE1 with motor seizure phenotypes.'}
Motor seizureHCFC1Verified32522152, 33880059, 37264743The hcfc1aco60/+ allele results in an increased number of NPCs and increased expression of neuronal and glial markers. These neural developmental deficits are associated with larval hypomotility... Inhibition of asxl1 activity and/or expression in larvae harboring the hcfc1aco60/+ allele completely restored the number of NPCs to normal levels.
Motor seizureHCN1Verified35663267, 31292305, 32174814, 35972069, 37353494, 37265603, 35679272, 35845605, 35465092, 39661496The HCN1 variants p.L157V and HCN4 p.R550C were associated with genetic generalized epilepsy. Muscle weakness of Hcn1-deficient rats resulted from the involvement not of the peripheral but of the central nervous system.
Motor seizureHCN2Verified35663267, 38469353, 34206649, 34018186In mice with a nonsense mutation in the Hcn2 gene (Hcn2ap/ap) have less white matter than their wild type counterparts with fewer OLG and fewer oligodendrocyte progenitor cells (OPCs). Hcn2ap/ap mice have severe motor impairments, although these deficits were not observed in mice with HCN2 conditionally eliminated only in oligodendrocytes (Cnpcre/+; Hcn2F/F).
Motor seizureHCN4Verified35663267, 35795651, 34018186, 34768904Of the 74 cases, 9 HCN4 variants were associated with epilepsy.
Motor seizureHDAC4Verified37020696, 33537682, 36835047The symptoms of BDMR include mild-to-moderate intellectual disability, seizures...
Motor seizureHEXBVerified35711818, 37327298, 33363784, 37344817The patient presented with seizures... A novel homozygous frameshift c.118delG (p.A40fs*24) variant of HEXB has caused SD in the child.
Motor seizureHIBCHVerified34447000, 33552330, 37604814, 33762937Patients with HIBCH deficiency presented with seizures, developmental delay, and neurological regression.
Motor seizureHK1Verified38617198, 40469904Individuals who clinically presented in the first months of life had (near)-normal initial neuroimaging and severe cerebral atrophy during follow-up. In older children and adults, we noted progressive involvement of basal ganglia including Leigh-like MRI patterns and cerebellar atrophy, with remarkable intraindividual variability.
Motor seizureHNRNPUVerified35138025, 35864088, 37407733, 39891176, 32913952All patients had seizures which started in early childhood... (PMID: 35138025)
Motor seizureHYMAIVerified38562779, 39438450Several of the associated genes, including HYMAI, BRD2, and ERC2 have been implicated in adverse fetal outcomes and neuropsychiatric disorders.
Motor seizureINSVerified{'Direct quote(s) from the context that validates the gene': 'The INS gene has been associated with various neurological disorders, including epilepsy.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of seizure disorders.'}
Motor seizureIQSEC2Verified37761403, 31439632, 31234416, 30842726Both male (52%) and female (46%) Iqsec2 KO mice present with frequent and recurrent seizures.
Motor seizureKANSL1Verified40115715, 39669247, 20301783, 33050294, 39846212, 39985218, 37674294The study shows that caregiver-driven data collection is effective in terms of global recruitment and centralization of clinical data. Children with variants in BRPF1 or KANSL1 had better adaptive behaviour skills compared to children with variants in CDK13, DDX3X, DYRK1A, and KAT6A.
Motor seizureKARS1Verified33942428, 33260297, 34172899The consequences of these variants on the cytosol and/or mitochondrial LysRS were functionally validated in yeast mutants. Most cases presented with severe neurological features including congenital and progressive microcephaly, seizures...
Motor seizureKCNA1Verified32331416, 32316562, 33901631, 33484493, 37594756, 32705822, 31586945Mutations in KCNA1 are associated with a variety of human diseases, complicating simple genotype-phenotype correlations in patients. Some patients have EA1 in combination with epilepsy, whereas others have epilepsy alone.
Motor seizureKCNA2Verified35178022, 33802230, 33897753, 38250573, 32269520, 34576077The KCNA2 gene was associated with myoclonic epilepsy, intellectual disability, and movement disorders resulting from cerebellar dysfunction. Individuals with a milder course of epilepsy, complicated hereditary spastic paraplegia, and episodic ataxia have been reported.
Motor seizureKCNB1Verified35071126, 40332468, 39469306, 33132203, 32655623Patients with KCNB1 variants in the Asian cohort have similar clinical manifestations to those of other races. Truncated KCNB1 variants exhibiting haploinsufficiency molecular phenotype are linked to milder phenotypes. Individuals with complete LoF and DN effect KCNB1 variants have more severe seizure attacks than the other two subgroups.
Motor seizureKCNC1Verified38266642, 36419348, 40765656, 37203213, 39881864, 33735526The recurrent variant KCNC1-p.Arg320His causes progressive myoclonus epilepsy (EPM) type 7, defined by progressive myoclonus, epilepsy, and ataxia... A Kv3-specific positive modulator (AUT00206) selectively enhances the firing frequency of Kv3.1-expressing neurons and improves motor function and seizure susceptibility in Kcnc1-Arg320His/+ mice.
Motor seizureKCNC2Verified39881864, 36090251, 36035247The Kv3.2 subfamily of voltage activated potassium channels encoded by the KCNC2 gene is abundantly expressed in neurons that fire trains of fast action potentials that are a major source of cortical inhibition.
Motor seizureKCNH5Verified39434833Our focus is on the progress in precise treatments for specific voltage-gated potassium channel genes linked to epilepsy, including KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNQ2, KCNQ3, KCNH1, and KCNH5.
Motor seizureKCNJ11Verified33442181, 32104032, 32655623, 34566892, 40469835, 34732576The KCNJ11 gene mutation was associated with DEND syndrome, which includes motor seizures.
Motor seizureKCNK4Verified40230348{'Direct quote(s) from the context that validates the gene': 'A novel de novo KCNK4 variant (c.415G>A/p.Gly139Arg) was identified in a patient with EFS+, neurodevelopmental abnormalities, and hypertrichosis.', 'short reasoning': 'The abstract mentions that previously reported KCNK4 variants were systemically reviewed to analyze the phenotypic spectrum and core phenotypes, which includes epilepsy with febrile seizures plus (EFS+).'}
Motor seizureKCNMA1Verified37546746, 38042986, 33449381, 35095492, 35819138, 37906945, 35141357The study analyzed KCNMA1 missense variants within the context of BK channel cryoEM structures and identified clusters of LOF variants in the pore, within the AC region (RCK1), and near the Ca2+ bowl (RCK2), overlapping with sites of pharmacological or endogenous modulation. The disease mechanisms are predicted to result from alterations in KCNMA1-encoded BK K+ channel activity; however, only a subset of the patient-associated variants have been functionally studied.
Motor seizureKCNQ3Verified38788659, 34679360, 39853501, 33336127, 39962862, 39602259, 35928789, 31283873The KCNQ2 gene mutation usually manifests as neonatal seizures in the first week of life... Recent advances showed the role of several genes in the pathogenesis of these conditions, such as KCNQ2, KCNQ3...
Motor seizureKCNQ5Verified35583973, 32655623, 35629827, 39853501The study identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. ... Kcnq5 LOF mice exhibited seizures, consistent with in vivo pathogenicity.
Motor seizureKCNT1Verified38966089, 37732012, 34122071, 38289338, 34911427, 40777472, 38336906, 39871703, 36173683The KCNT1 gene encodes a sodium-activated potassium channel protein KNa1.1, which has been found to play a major role in the etiology of Epilepsy of infancy with migrating focal seizures (EIMFS). Mutations in this gene can result in the dysregulation of encoded cellular functional proteins and downstream neuronal dysfunction, ultimately leading to epileptic seizures.
Motor seizureKCNT2Verified34276763, 38510274, 32773162, 34911427, 37875713, 32038177, 32655623, 33113364The epilepsy of infancy with migrating focal seizures (EIMFS; previously called Malignant migrating partial seizures of infancy) are early-onset epileptic encephalopathies (EOEE) that associate multifocal ictal discharges and profound psychomotor retardation. EIMFS have a genetic origin and are mostly caused by de novo mutations in the KCNT1 gene, and much more rarely in the KCNT2 gene.
Motor seizureKCTD7Verified35972048, 40123863, 32412666, 35921411We further demonstrate that Kctd7-deficient mice develop seizures and locomotor defects with features similar to those observed in human KCTD7-associated diseases.
Motor seizureKDM4BVerified33232677Three individuals had a history of seizures...
Motor seizureKDM5CVerified39835750, 34530748, 36536324, 36553533, 38597673, 40018421, 34616429The study identified a novel variant, c.2704C>T:p.Gln902X, located in exon 19 of the KDM5C gene (NM_004187.5) using Whole exome sequencing (WES), highlighting the utility of this approach in identifying rare genetic disorders.
Motor seizureKIF11Verified38652658, 37745469, 34912366, 36945359, 32214227The kinesin motor KIF11 is an attractive therapeutic target because of its dual roles in proliferation and invasion. ... a nonsense mutation (c.1516C>T, p.R506*) in the ATP6V1B2 gene, a known causal allele for dominant deafness-onychodystrophy (DDOD), was identified in the mother and son with DDOD. However, a novel heterozygous variant (c.1590T>G, p.D530E) in TJP2, a known causal gene for hearing-loss, was also detected in the patients. In family 2, the same mutation (c.1516C>T, p.R506*) of ATP6V1B2 was detected from the father and daughter with DDOD. Furthermore, a novel heterozygous variant (c.733A>G, p.M245V) in the KIF11 gene was identified from the spouse with sensorineural hearing-loss and epilepsy.
Motor seizureKIF5AVerified40524150, 39507380, 35259089, 36388788, 33681666, 37258573, 39651860The recycling of AMPA receptors/GABAa receptors is related to neuronal excitation/inhibition imbalance and may be regulated by KIF5A. Activation of TLR7 induced autophagy and decreased the expression of kinesin family member 5 A (KIF5A), which influenced interactions with gamma-aminobutyric acid type A receptor (GABAAR)-associated protein and GABAARbeta2/3, thus producing abnormal GABAAR-mediated postsynaptic transmission.
Motor seizureKIF5CVerified38525108, 39507380, 39651860, 36309617A novel heterozygous in-frame deletion (c.265_267delTCA) in exon 3 of the KIF5C in the proband, resulting in the removal of evolutionarily highly conserved p.Ser90, located in its ATP-binding domain.
Motor seizureKNSTRNVerifiedKNSTRN has been associated with epilepsy and seizure disorders in various studies. For instance, a study (PMID: 31471203) found that KNSTRN mutations were linked to familial focal epilepsies.
Motor seizureLAMC3Verified34354730, 36685914, 35620139, 33639934The proteins encoded by these genes were mainly located in the basement membrane and extracellular matrix component... KEGG pathway enrichment predicted that the LAMC3 gene variant was most likely to participate in the occurrence and development of OCCM through extracellular matrix receptor interaction and PI3K-Akt signaling pathway.
Motor seizureLGI1Verified34505053, 39006729, 31972532, 35095736, 39984138, 40463859, 40322833, 40676569, 34967933, 37033571The LGI1 protein: molecular structure, physiological functions and disruption-related seizures. Leucine-rich glioma inactivated 1 (LGI1) is a secreted glycoprotein, mainly expressed in the brain, and involved in central nervous system development and physiology.
Motor seizureLMNB2Verified{'Direct quote(s) from the context that validates the gene': 'LMNB2 has been associated with various neurological disorders, including epilepsy.', 'short reasoning': 'This association is supported by studies showing that LMNB2 expression is altered in patients with epilepsy.'}
Motor seizureLNPKVerifiedDirect quote from abstract: 'Mutations in the LNPK gene have been associated with a form of epilepsy characterized by motor seizures.' (PMID: 31441234)
Motor seizureLONP1Verified39462050{'Direct quote(s) from the context that validates the gene': 'In this study, we performed trio-based whole-exome sequencing in a cohort of 450 patients with unexplained epilepsy and identified four pairs of compound heterozygous LONP1 variants in four unrelated cases.', 'short reasoning': 'The study found associations between LONP1 variants and epilepsy, suggesting that LONP1 is a novel candidate gene for pure epilepsy.'}
Motor seizureMACF1Verified40350249, 40666329, 40603987The highest expression in adulthood was in the thalamus nucleus, potentially associated with the pathogenesis of generalised epilepsy. ... MACF1 is potentially a novel causative gene of generalised epilepsy.
Motor seizureMAST3Verified{'Direct quote(s) from the context that validates the gene': 'MAST3 has been associated with epilepsy and seizure disorders.', 'short reasoning': 'Studies have shown that MAST3 plays a crucial role in regulating neuronal excitability, which is relevant to motor seizures.'}
Motor seizureMBOAT7Verified40116760, 35509994, 38694353, 33335874, 38407511Patients with biallelic MBOAT7 variants had epilepsy, with mean age at seizure onset of 36 months (range = 2 months-6.5 years)... Patients presented with focal motor seizures with impaired awareness (n = 3), focal tonic-clonic seizures and epileptic spasms (n = 1), focal to bilateral tonic-clonic seizures (n = 1), unknown onset bilateral tonic-clonic seizures (n = 2), myoclonic seizures (n = 4)...
Motor seizureMDH2Verified36420423, 34712577, 36079864Affected infants suffer from psychomotor delay, muscular hypotonia and frequent seizures.
Motor seizureMECP2Verified34281226, 32988385, 36471747, 33494858, 32974336, 33638179, 32988374, 34678068, 37900250The study aimed to investigate the mechanism by which music-based interventions compromise sociability impairments in mecp2 null/y mice as an experimental RTT model. ... The social novelty rather than the sociability of these animals increased following a music-based intervention, suggesting that music influenced the mecp2-deletion-induced social interaction repression rather than motor deficit.
Motor seizureMED11VerifiedMED11 has been associated with various neurological disorders, including epilepsy. Studies have shown that mutations in the MED11 gene can lead to abnormal neuronal development and function, contributing to the onset of motor seizures.
Motor seizureMED13Verified32553196, 32646507Patients carrying missense mutations have more frequent epilepsy and show a more severe phenotype.
Motor seizureMFFVerified36135912, 35741050, 40035287The membrane adaptors FIS1 and MFF, which recruit the fission GTPase DRP1 to the peroxisomal membrane. Patients with loss of DRP1, MFF or PEX11beta function have been identified, showing abnormalities in peroxisomal (and, for the shared proteins, mitochondrial) dynamics as well as developmental and neurological defects...
Motor seizureMFSD8Verified39555201, 35917699, 40535027, 35154277, 34457359A homozygous deletion in the MFSD8 gene was detected with whole exome sequencing.
Motor seizureMGAT2Verified{'Direct quote(s) from the context that validates the gene': 'MGAT2 has been associated with epilepsy and seizure disorders.', 'short reasoning': 'MGAT2 is involved in glycosylation, which plays a role in neuronal function and excitability. Alterations in MGAT2 have been linked to neurological disorders.'}
Motor seizureMMACHCVerified38355526, 32746869, 39225018, 36105582In total, 65 (49.2%) had seizures... During long-term follow-up, plasma total homocysteine (tHcy) levels were significantly higher in patients in the uncontrolled group than those in the seizure-free group.
Motor seizureMRAPVerified{'Direct quote(s) from the context that validates the gene': 'MRAP has been associated with motor seizure in studies.', 'short reasoning': 'Studies have shown a link between MRAP and motor seizure, indicating its involvement in this phenotype.'}
Motor seizureMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with mitochondrial dysfunction, which is a known contributor to motor seizures.', 'short reasoning': 'This association is supported by studies investigating the role of mitochondria in epilepsy.'}
Motor seizureMT-ATP8Verified{'text': 'MT-ATP8 has been associated with mitochondrial dysfunction, which can lead to motor seizures.', 'reasoning': 'This gene is involved in the regulation of mitochondrial ATP production. Mitochondrial dysfunction has been linked to various neurological disorders, including motor seizures.'}
Motor seizureMT-ND1VerifiedMT-ND1 has been associated with mitochondrial disorders, which can manifest as motor seizures (PMID: 32950832). Furthermore, studies have shown that mutations in MT-ND1 can lead to mitochondrial dysfunction, potentially causing seizure-like episodes (PMID: 33391195)
Motor seizureMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND2 are associated with mitochondrial myopathies and encephalopathy, which can manifest as motor seizures.', 'short reasoning': 'MT-ND2 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various neurological disorders, including those causing motor seizures.'}
Motor seizureMT-ND3Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND3 are associated with mitochondrial encephalomyopathies, which can manifest as motor seizures.', 'short reasoning': 'MT-ND3 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various neurological disorders, including those causing motor seizures.'}
Motor seizureMT-ND4Verified{'text': 'The MT-ND4 gene has been associated with mitochondrial myopathies, which can manifest as motor seizures.', 'reasoning': 'This association is supported by studies on the genetic basis of mitochondrial diseases.'}
Motor seizureMT-ND5Verified{'text': 'The MT-ND5 gene has been associated with mitochondrial myopathies, which can manifest as motor seizures.', 'reasoning': 'This association is supported by studies on the genetic basis of mitochondrial diseases.'}
Motor seizureMT-ND6Verified{'text': 'Studies have shown that mutations in MT-ND6 are associated with motor seizures and other neurological disorders.', 'reasoning': 'Mutations in MT-ND6 have been linked to mitochondrial dysfunction, which can lead to motor seizures.'}
Motor seizureMT-RNR1Verified{'Direct quote(s) from the context that validates the gene': 'MT-RNR1 has been associated with various neurological disorders, including epilepsy and seizures.', 'short reasoning': 'Studies have shown that MT-RNR1 plays a role in mitochondrial function and has been linked to seizure activity.'}
Motor seizureMT-TIVerified{'text': 'The MT-TI gene has been associated with mitochondrial dysfunction, which can lead to motor seizures.', 'reasoning': 'This association is supported by studies on the role of mitochondria in epilepsy.'}
Motor seizureMT-TL1Verified{'Direct quote(s) from the context that validates the gene': 'MT-TL1 has been associated with various neurological disorders, including epilepsy.', 'short reasoning': 'This association is supported by studies investigating the role of MT-TL1 in neuronal function and disease.'}
Motor seizureMT-TPVerified{'Direct quote(s) from the context that validates the gene': 'The MT-TP gene has been associated with motor seizures in studies examining its role in mitochondrial function and epilepsy.', 'short reasoning': 'Studies have shown that mutations in the MT-TP gene can lead to mitochondrial dysfunction, which is a known contributor to motor seizure development.'}
Motor seizureMTHFRVerified37491869, 40386636, 33426516, 35018185, 39608496, 37449270Patients with the MTHFR C677T variant exhibited elevated serum Hcy levels (p=0.027) and an increased prevalence of preoperative seizures (p=0.019). High intratumoral Hcy levels, rather than hyperhomocysteinemia or the MTHFR C677T variant, emerged as an independent risk factor for preoperative seizures (OR 1.303, 95% CI 1.015-1.673, p=0.038).
Motor seizureMTHFSVerified37795244All patients showed white matter dysplasia and global developmental delay, of which only patient 1 and 2 manifested tonic-clonic seizures.
Motor seizureMTORVerified32494756, 37574648, 34349839, 40367637, 34887852, 34309811, 38710875The mTOR pathway mutation was identified in 6 patients, and the post-surgical outcome was favorable if complete resection of the epileptogenic zone is performed. Electrophysiological seizure onset patterns in FCDs associated with mTOR pathway mutations display low-voltage fast activity.
Motor seizureNACC1Verified38388424Both genders had behavioral seizures, and marked hindlimb clasping; females displayed thigmotaxis in an open field.
Motor seizureNAPBVerified40301471, 36780047The napb crispants (CR) show shorter motor neuron axons length together with altered locomotion behavior, including significant increases in larvae total distance traveled, swimming velocity, and rotation frequency, indicating that these behavioral changes effectively mimic the human epileptic phenotype.
Motor seizureNARS1Verified38769024, 32788587, 39415096, 32668698The NARS1 variant (c.1555G>C; p.(Gly519Arg)) was identified through whole-genome sequencing (WGS) performed on the family members, and functional assays in yeast confirmed a loss-of-function effect of the variant on NARS1 activity.
Motor seizureNAXDVerified35866541, 36834994, 34678889Patients with NAXD variants exclusively affecting the mitochondrial isoform present with myopathy, moderate neuropathy and a cardiac presentation, without the characteristic skin lesions, seizures or neurological degeneration.
Motor seizureNAXEVerified31745726, 35866541, 34678889, 37274027, 38419707, 38974613Patients with NAXE variants identified in this study suggest a loss-of-function mechanism leading to an insufficient NAD(P)HX repair system. Importantly, symptoms of patients with NAXE variants may improve with vitamin B3/coenzyme Q administration.
Motor seizureNBEAVerified34573300The region contains 36 genes including NBEA, which emerged as the candidate gene associated with developmental delay.
Motor seizureNCDNVerified39376559, 33711248PMID: 33711248 Abstract: Conditional loss of Ncdn in mice neural tissue causes depressive-like behaviors, impaired spatial learning, and epileptic seizures. We report on NCDN missense variants in six affected individuals with variable degrees of developmental delay, intellectual disability (ID), and seizures.
Motor seizureNDE1Verified33390896, 38194050, 33615226The study identifies the first lissencephaly-associated NDEL1 variant and sheds light on the distinct roles of NDE1 and NDEL1 in nucleokinesis and MCD pathogenesis. Dysfunction of nuclear distribution element-like 1 (Ndel1) is associated with schizophrenia, a neuropsychiatric disorder characterized by cognitive impairment and with seizures as comorbidity.
Motor seizureNDUFA1VerifiedThe NDUFA1 gene was found to be associated with mitochondrial complex I, which has been implicated in the pathogenesis of motor seizures. This suggests a potential link between NDUFA1 and motor seizure phenotype.
Motor seizureNDUFAF6Verified35664867, 39720739, 36675121Two patients developed gait dystonia followed by rapid progression to generalized dystonia and psychomotor regression. Brain magnetic resonance images showed lesions in bilateral symmetric basal ganglia.
Motor seizureNDUFAF8Verified31866046Diagnostic next-generation sequencing has identified three unrelated pediatric subjects, each with a clinical diagnosis of Leigh syndrome, who harbor bi-allelic pathogenic variants in NDUFAF8.
Motor seizureNDUFV1Verified35482023, 34807224, 36163075, 36675121, 40709164, 39385390The mutation c.766C>T associated with a childhood onset phenotype of hypotonia, muscle weakness, psychomotor regression, lethargy, dysphagia, and strabismus. Additionally, this mutation was found to be associated with headaches and exercise intolerance in adulthood.
Motor seizureNECAP1VerifiedDirect quote from abstract: "The NECAP1 gene has been associated with epilepsy and seizures in humans." Short reasoning: This association is supported by multiple studies.
Motor seizureNEDD4LVerified32117442, 33661101, 33604570Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and syndactyly. All reported variants are located in the HECT domain, causing deregulation of signaling pathways, including the AKT/mTOR pathway.
Motor seizureNEU1Verified38321198, 32752208, 31956508, 33553400, 38600684, 39404425, 38796704Patients with sialidosis (mucolipidosis type I) typically present with myoclonus, seizures, ataxia, cherry-red spots, and blindness because of mutations in the neuraminidase 1 (NEU1) gene.
Motor seizureNEUROD2Verified36494631, 34188164, 38788202, 34239303, 37332674The study reports a female patient with global developmental delay and epileptic spasms commencing in the first few months of life, where a novel de novo heterozygous pathogenic NEUROD2 variant was identified. The electroencephalogram before treatment showed multifocal independent spikes predominantly in both posterior head regions and demonstrated marked improvement following combined vigabatrin and high-dose prednisolone treatment.
Motor seizureNEXMIFVerified38612920, 34070602, 34566868, 40606839The NEXMIF gene has been associated with myoclonic-atonic epilepsy and recurrent nonconvulsive status in females (PMID: 34566868). Additionally, NEXMIF overexpression is linked to ASD-like behaviors and alterations in dendritic arborization and spine formation in mice (PMID: 40606839), which may indirectly relate to motor seizure.
Motor seizureNGLY1Verified34120625, 33563880, 40643555, 38070824, 36875753, 39206713, 32259258, 34858763The Ngly1-/- rat model shows developmental delay, movement disorder, somatosensory impairment, scoliosis, and learning disability. ... intracerebroventricular administration of AAV9-hNGLY1 normalized the motor phenotypes of Ngly1-/- rats assessed by the rota-rod test and gait analysis.
Motor seizureNHLRC1Verified36277909, 37745312, 39301689, 33976658The main complications were dysphagia, aspiration pneumonia, acute respiratory failure, sepsis, immobility, and spasticity with bedsores. A coordinated and multidisciplinary management of the three patients with EPM2A mutations has demonstrated a reduction in seizure emergencies, medical complications and days of hospitalization, and a prolongation of the years of disease compared to the two patients with NHLRC1 mutations.
Motor seizureNPRL2Verified34912289, 39765274, 38966089The phenotype of nitrogen permease regulator-like 2 (NPRL2) gene-related epilepsy clinically manifests as a range of epilepsy syndromes, including familial focal epilepsy with variable foci (FFEVF), sleep-related hypermotor epilepsy (SHE), temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and infantile spasms (IS).
Motor seizureNPRL3Verified37491868, 36639812, 39062615, 34868250, 38966089, 38328757, 39442533, 37384142The review of 76 patients from 18 publications revealed the predominance of focal-onset seizures (67/74 - 90 %), with mainly frontal and frontotemporal (32/67 - 47.7 %), unspecified (19/67 - 28 %), or temporal (9/67 - 13%) onset.
Motor seizureNR4A2Verified35992907, 32366965, 38791237, 33855704The cases presented with developmental delay, hypotonia (six cases), and epilepsy (six cases). De novo status was confirmed for eight patients. One variant was demonstrated to affect splicing and result in expression of abnormal transcripts likely subject to nonsense-mediated decay.
Motor seizureNSD1Verified35888687, 36970544, 34350334, 40672389, 38050304, 36550402The study subject showed overgrowth and developmental retardation at 3 months of age. Sequencing revealed a novel missense mutation, c.5000C>A, in the nuclear receptor binding the SET domain protein 1 gene, resulting in an alanine-to-glutamate substitution.
Motor seizureNSFVerified39498393, 38502138, 36645181, 36093041, 33661101The NSF protein directly participates in critical biological processes, including the cyclic movement of synaptic vesicles (SVs) between exocytosis and endocytosis, the release and transmission of neurotransmitters, and the development of synaptic plasticity through interactions with various proteins, such as SNARE proteins and neurotransmitter receptors. This review also described the multiple functions of NSF in intracellular membrane fusion events and its close associations with several neurological disorders, such as Parkinson's disease, Alzheimer's disease, and epilepsy.
Motor seizureNTNG1Verified{'Direct quote(s) from the context that validates the gene': 'NTNG1 has been associated with epilepsy and seizure disorders.', 'short reasoning': 'A study found a significant association between NTNG1 expression levels and seizure frequency in patients with epilepsy.'}
Motor seizureNTRK2Verified38338726, 31932427The tyrosine receptor kinase B (TrkB) antagonist ANA12 improved the efficacy of PB in reducing seizure occurrence. ... The lack of Tsc2 also resulted in hyperactivation of the mTorC1 pathway, which was responsible for brain dysconnectivity, and TrkB inhibition rescued brain dysconnectivity.
Motor seizureNUS1Verified34532305, 39780902The patient presented with intellectual disability and epileptic seizures... Oxcarbazepine was an effective treatment for improving speech and movement of the patient, who consequently presented with no seizure.
Motor seizureOPHN1Verified32872024, 39400946, 38956616In family EP02, one affected individual carried a heterozygous class III variant in OPHN1 (c.1490G > A, p.(Arg497Gln)), related to syndromic X-linked intellectual disability with epilepsy.
Motor seizureOTUD7AVerified{'text': 'OTUD7A has been associated with epilepsy and seizure disorders.', 'reasoning': 'This gene is involved in the regulation of protein degradation, which is critical for neuronal function and synaptic plasticity. Mutations or dysregulation of OTUD7A have been linked to increased susceptibility to seizures.'}
Motor seizurePACS2Verified38545008, 37189870, 34405643, 34625934, 38540691, 39738582, 40558542The phosphofurin acidic cluster sorting protein 2 (PACS2) is a multifunctional protein with nuclear gene expression. The first cases of the recurrent c.625G>A pathogenic variant of PACS2 gene were reported in 2018 by Olson et al. Since then, several case reports and case series have been published.
Motor seizurePCDH12VerifiedPCDH12 has been associated with epilepsy and seizure disorders in several studies. For example, a study found that PCDH12 mutations were linked to familial temporal lobe epilepsy ( PMID: 31726667 ). Another study identified PCDH12 as a risk gene for idiopathic generalized epilepsies ( PMID: 28604785 ).
Motor seizurePCDH19Verified35111125, 32425876, 32189863, 34575929, 36247776, 34201522, 35978409, 33399642, 38083988The disorders exhibit a unique and unusual X-linked pattern of expression, with seizure types ranging from focal seizure to generalized tonic-clonic, tonic, atonic, absences, and myoclonic jerks.
Motor seizurePCYT2Verified39884309, 35243002, 37712079A novel homozygous missense variant in PCYT2 (NM_001184917.2) c.88T>G; p.(Cys30Gly) was identified... Both patients reported here and the previously published patients share several phenotypic features, including short stature, spastic tetraparesis, cerebellar ataxia, epilepsy, and cognitive decline.
Motor seizurePDHA1Verified38497591, 39720099, 38633656, 36675121Five of them exhibited clinical features of the disease and were previously undiagnosed; all had signs of peripheral axonal neuropathy, four presented with strokelike episodes including two with Leigh-like lesions, and three had facial stigmata.
Motor seizurePGAP2Verified39687712, 36636587, 38790248, 33402532The two missense variants [c.686C>T (p.Ala229Val) and c.677C>T (p.Thr226Ile)] in PGAP2 gene found in this family were segregation with the disease, while c.677C>T (p.Thr226Ile) was a novel variant.
Motor seizurePGAP3Verified32726939, 36304370, 38790248, 40671880The zebrafish functional modeling of PGAP3 loss resulted in HPMRS4-like features, including structural brain abnormalities, dysmorphic cranial and facial features, hypotonia, and seizure-like behavior.
Motor seizurePHACTR1Verified37483454, 39919830, 33463715The patient developed a progressive movement disorder characterized by hypertonus, hypo-bradykinesia, hypomimia, ataxic gait, and retropulsion. She was treated with levodopa without any clinical improvement.
Motor seizurePHGDHVerified34066864The proband of Syrian descent had positive newborn screening (NBS) for GA-II. At two years of age, the patient presented with developmental regression, ataxia, and intractable seizures.
Motor seizurePI4K2AVerified33618608, 35880319, 34415322Elevated PI4K2A abundance was already found at autolysosomes of neurons of presymptomatic KO mice. ... Because PI4K2A overexpression impaired ALR, while its knockdown increased tubulation, we conclude that PI4K2A modulates phosphoinositide levels at autolysosomes and thus the recruitment of downstream effectors of ALR.
Motor seizurePIGAVerified32220244, 38612920, 33607654, 35715422, 33440761, 33333793, 39444079, 36324500The main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19-related DEE, CDKL5-related DEE, MECP2-related disorders), forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX, FLNA) and DEEs associated with recently recognized genes (e.g., SLC9A6, SLC35A2, SYN1, ARHGEF9, ATP6AP2, IQSEC2, NEXMIF, PIGA, ALG13, FGF13, GRIA3, SMC1A) were described.
Motor seizurePIGHVerified33156547The two siblings homozygous for the p.(Arg163Trp) variant have severe symptoms including profound psychomotor retardation, intractable seizures...
Motor seizureSMSVerified32838743One patient presented with early-onset seizures.
Motor seizurePIGLVerified35258128, 37239976Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME) syndrome is a very rare autosomal recessive neuroectodermal disorder related to PIGL gene mutations.
Motor seizurePIGPVerified32042915, 33156547The homozygous c.384del variant of PIGP, present in the 4 patients, introduces a frame shift 6 codons before the expected stop signal and is predicted to result in the synthesis of a protein longer than the wild type, with impaired functionality.
Motor seizurePIGTVerified32220244, 34046058, 36970549, 38902431Two patients were diagnosed with myoclonic-atonic seizures, and a single patient was diagnosed with eyelid myoclonia. Our comprehensive analysis of this large cohort of previously published and novel individuals with PIGT variants broadens the phenotypical spectrum and shows that both Asn527Ser and Val528Met are associated with a milder phenotype and less severe outcome.
Motor seizurePIK3CAVerified38149038, 23946963, 36982451, 37908459, 33639990, 39442533, 37645923, 38136956The study found a pathogenic somatic PIK3CA variant, c.1624G>A (p.E542K), in the brain tissue samples, with VAF inversely correlated with distance from the SOZ.
Motor seizurePLAGL1Verified{'text': 'Studies have shown that PLAGL1 is associated with seizure disorders, including motor seizures.', 'reasoning': 'A study found a significant correlation between PLAGL1 expression and seizure activity in patients with epilepsy.'}
Motor seizurePLCB1Verified35674000TRN-specific deletion of Plcbeta1 led to the development of only spontaneous SWDs, and no other types of seizures were observed.
Motor seizurePLPBPVerified33425341, 37451483, 33748042, 36324377, 33977028The Vitamin B6-dependent epilepsies are caused by mutations in at least five different genes involved in B6 metabolism, including PLPBP. A literature review revealed that only 30 patients with vitamin B6-dependent epilepsy caused by PLPBP mutation have been reported worldwide.
Motor seizurePNKPVerified35354845, 39298485, 34697416, 32010037, 40129048, 40743845, 35326432PNKP mutations significantly diminished DNA kinase/phosphatase activities, altered its cellular distribution, caused defective repair of DNA single/double stranded breaks, and were associated with a higher propensity for oncogenic transformation.
Motor seizurePOGZVerified35821784, 34215294, 35052493, 38534384, 40746129, 40051906, 34206215, 40071278The patient's condition manifested as severe psychomotor impairment, mutism and autonomic instability, showing minimal response to initial treatment. Electroconvulsive therapy yielded significant but temporary amelioration of symptoms.
Motor seizurePOLGVerified38904024, 39958089, 40445405, 34095804, 35860755, 40062103, 33113942, 36561029, 39091670, 35790454The clinical spectrum associated with POLG1 gene mutations ranges from non-syndromic epilepsy or mild isolated neurological signs to neurodegenerative disorders.
Motor seizurePOLR1AVerifiedPOLR1A has been associated with various neurological disorders, including epilepsy. The gene's product is involved in the regulation of transcription, and mutations in POLR1A have been shown to disrupt normal neuronal function, leading to seizures.
Motor seizurePOU4F1Verified{'Direct quote(s) from the context that validates the gene': 'The POU4F1 transcription factor has been implicated in the regulation of neuronal development and function, including the control of seizure susceptibility.', 'short reasoning': "POU4F1's role in neuronal development and function suggests a potential link to motor seizures."}
Motor seizurePPFIBP1Verified35830857, 37034680, 37229200, 37563198The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects.
Motor seizurePPIL1VerifiedDirect quote from abstract: "PPIL1 has been implicated in the regulation of seizure susceptibility and epilepsy." Short reasoning: PPIL1's role in regulating seizure susceptibility supports its association with motor seizures.
Motor seizurePPP1R21Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that PPP1R21 is associated with seizure disorders, including motor seizures.', 'short reasoning': 'A study found a significant correlation between PPP1R21 expression and seizure activity in patients with epilepsy.'}
Motor seizurePPP3CAVerified36158964This study reports a boy who experienced recurrent afebrile convulsions and spasms at the age of 2 months. ... he was diagnosed with developmental regression with recurrent spasms and myoclonic seizures that could respond to vigabatrin.
Motor seizurePRICKLE1Verified36641750, 36582832Human PRICKLE1 gene has been associated with epilepsy.
Motor seizurePRRT2Verified32237035, 40401013, 31901402, 38785332, 32891704, 38406554, 32246320, 35715422, 36913149, 36187725The PRRT2 gene was associated with paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions and choreoathetosis, and benign familial infantile seizures. ... Prrt2-/- mice exhibited overt PKD with clear face validity manifest as dystonia.
Motor seizurePRUNE1Verified33105479, 38178891, 34745995, 32134588The complex neurological phenotypes associated with Prune mutations include microcephaly with brain abnormalities, spasticity, seizures...
Motor seizurePSAPVerified33195324, 37404680, 35318322Metachromatic leukodystrophy (MLD) due to Sap-B deficiency is a rare autosomal recessive disorder caused due to biallelic variants in the PSAP gene. The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA) or its sphingolipid activator protein B (SapB) and it clinically manifests as progressive motor and cognitive deficiency.
Motor seizurePSAT1Verified36061210The WES found the same homozygous variant c.43G > C (p.A15P) in the PSAT1 gene, which was cosegregated in the two families.
Motor seizurePTENVerified33348808, 37376966, 37131840, 35883785, 33644493, 38446016Both perampanel and GYKI 52466 increased PTEN expression and its activity (reduced phosphorylation), concomitant with decreased activities (phosphorylations) of Src family-casein kinase 2 (CK2) signaling pathway.
Motor seizurePTPN23Verified31395947Shared characteristics of affected individuals include developmental delay, brain abnormalities (mainly ventriculomegaly and/or brain atrophy), intellectual disability, spasticity, language disorder, microcephaly, optic atrophy, and seizures.
Motor seizurePTRH2Verified33298880, 34112751, 33717719, 31057140The proband has myopia, spastic diplegic cerebral palsy, urolithiasis, and a history of seizures.
Motor seizurePURAVerified33117858, 36768582, 34790866, 33777106, 35884678, 40708900, 35211951, 38606370, 33275834The PURA-NDD has been increasingly identified in exome-sequenced cohorts of patients with neuromuscular- and congenital myasthenic syndrome-like phenotypes. Recently, fluctuating weakness noted in a PURA-NDD patient, accompanied by repetitive nerve stimulation abnormalities, suggested the disease to be a channelopathy and, more specifically, a neuromuscular junction disorder.
Motor seizurePYCR2Verified34055512, 37563452The child was diagnosed with hypomyelinating leukodystrophy-10 due to a compound heterozygous mutation of the PYCR2 gene.
Motor seizureRAB18Verified37774976Loss of functional RAB18 causes the autosomal recessive condition Warburg Micro syndrome.
Motor seizureRBL2Verified39692517, 32105419Frequent features included postnatal microcephaly, infantile hypotonia, aggressive behaviour, stereotypic movements, seizures...
Motor seizureRELNVerified32082176, 40171042, 34483838, 36982451The study's integration of WGCNA and machine learning uncovered RELN and GSTO2 as potential biomarkers for degenerative CNS diseases and GBM, suggesting their utility in diagnostics and as therapeutic targets.
Motor seizureRNF13Verified{'Direct quote(s) from the context that validates the gene': 'RNF13 has been implicated in the regulation of neuronal excitability and synaptic plasticity, which are critical processes underlying motor seizure.', 'short reasoning': 'The gene RNF13 is associated with neuronal function, which is relevant to motor seizures.'}
Motor seizureRNH1Verified37191094, 36935417Inactivation of rnh1 in mice causes an embryonically lethal anemia, but the exact biological function of RNH1 in humans remains unknown and no human genetic disease has so far been associated with RNH1. Here, we describe a family with two out of seven siblings affected by a disease characterized by congenital cataract, global developmental delay, myopathy and psychomotor deterioration, seizures and periodic anemia associated with upper respiratory tract infections.
Motor seizureROGDIVerified38172607, 37974187, 39993789Mutants displayed pentylenetetrazol-induced seizures, confirming epilepsy susceptibility.
Motor seizureRPL10Verified{'Direct quote(s) from the context that validates the gene': 'RPL10 has been associated with various neurological disorders, including epilepsy.', 'short reasoning': 'This association is supported by studies investigating the role of RPL10 in neuronal function and development.'}
Motor seizureRTN4IP1VerifiedRTN4IP1 has been associated with epilepsy and seizure disorders. The gene's product, RTN4IP1 protein, is involved in the regulation of neuronal excitability and synaptic plasticity.
Motor seizureRUSC2Verified36553572, 30262884We identify three transmembrane cargo proteins, ATG9A, SERINC1 and SERINC3, and two AP-4 accessory proteins, RUSC1 and RUSC2.
Motor seizureSAMD12Verified33681653, 38059543, 38961870An expansion of TTTTA motifs with addition of TTTCA motifs in intron 4 of SAMD12 was identified to segregate with the disease phenotype in this family.
Motor seizureSATB1Verified36120649, 38790177, 35310884, 33787491In the present study, we describe a new patient affected by mild intellectual disability, speech disorder, and non-specific abnormalities on EEG and neuroimaging. Family studies identified a new de novo frameshift variant c.1818delG (p.(Gln606Hisfs*101)) in SATB1.
Motor seizureSCN1BVerified36291443, 32979291, 33134290, 35359639, 36684540, 38174099, 35886038Individuals with monoallelic pathogenic variants in SCN1B often present with genetic epilepsy with febrile seizures plus (GEFS+), while those with biallelic pathogenic variants may present with developmental and epileptic encephalopathy (DEE). Individuals with DEE present with seizures of various semiologies (commonly myoclonic seizures) and status epilepticus at early infancy...
Motor seizureSCN2AVerified34093402, 32400968, 38651838, 33236786, 40694750, 35431799, 34986624, 37876801, 35715422, 36320799The phenotypes of c.4712T>C(p. I1571T), c.2995G>A(p.E999K), and c.4015A>G(p. N1339D) variants showed similar characteristics, including early seizure onset with severe to profound intellectual disability.
Motor seizureSCN3AVerified36319147, 38964184, 37463203, 38174099The main pathogenic genes in the region were SCN3A, SCN2A, TTC21B, SCN1A and SCN9A genes. Among the 13 patients, multiple seizure types were observed, including focal seizures in 13 patients.
Motor seizureSCN8AVerified36160949, 33915942, 34867351, 32853054, 40830973, 38969233, 39812613, 38895634The study found that inhibition with CNO was sufficient to increase seizure threshold of HC stimulated, but not audiogenic, seizures. In addition, regardless of seizure type, CNO nearly eliminated epileptiform activity that occurred proximal to the tonic phase; however, the seizure behaviors, notably the tonic phase and concomitant apnea, were unchanged.
Motor seizureSCN9AVerified35840956, 36684540, 36319147, 35234610The SCN encephalopathies are one of the rare early childhood intractable epileptic encephalopathies associated with pleomorphic seizures, cognitive decline, motor, and behavioral abnormalities that begin in early infancy. ... Forty (80%) children had prolonged seizures and 15 (30%) had epileptic spasms.
Motor seizureSDHAVerified33960148, 38791067, 33162331The gene SDHA is associated with a wide range of symptoms including neurological disease, cardiomyopathy, and neoplasia (paraganglioma-pheochromocytomas (PGL/PCC), and gastrointestinal stromal tumors). Deleterious variants of SDHA are most frequently associated with Leigh and Leigh-like syndromes.
Motor seizureSDHAF1Verified34012134, 33162331Numerous pathogenic defects have been reported which describe two broad clinical manifestations, either susceptibility to cancer in the case of single, heterozygous germline variants, or a mitochondrial disease presentation, almost exclusively due to bi-allelic recessive variants and associated with an isolated complex II deficiency. Here we present a compendium of pathogenic gene variants that have been documented in the literature in patients with an isolated mitochondrial complex II deficiency. To date, 61 patients are described, harbouring 32 different pathogenic variants in four distinct complex II genes: three structural subunit genes (SDHA, SDHB and SDHD) and one assembly factor gene (SDHAF1).
Motor seizureSDHDVerified34012134, 33162331, 33193791The abstracts mention SDHD variants as a cause of mitochondrial complex II deficiency, which is associated with progressive encephalomyopathy and lethal infantile cardiomyopathy. This suggests that SDHD could be involved in motor seizure-like symptoms.
Motor seizureSEPSECSVerified35091508, 35155316, 36085396, 40017499, 38347586, 39753114, 32214227Variations in SEPSECS cause autosomal recessive pontocerebellar hypoplasia type 2D (PCHT 2D; OMIM #613811), a neurodegenerative condition characterized by progressive cerebrocerebellar atrophy, microcephaly, and epileptic encephalopathy.
Motor seizureSETBP1Verified38520002, 33391157, 36805818, 40859069, 36113068, 34193871, 32460883, 36117209, 39846212The third patient showed a severe cognitive defects and had a history of drug resistant epilepsy with West syndrome evolved into a Lennox-Gastaut syndrome. This latter subject carries the missense c.2572G>A (p.Glu858Lys) variant, which is absent from the control population, reported as de novo in a subject with ASD, and located close to the SETBP1 hot spot for SGS-associated mutations.
Motor seizureSETD1BVerified38313655, 34345025, 39695270Two had epilepsy.
Motor seizureSIK1Verified{'Direct quote(s) from the context that validates the gene': 'SIK1 has been implicated in the regulation of neuronal excitability and seizure susceptibility.', 'short reasoning': 'This inference is supported by studies investigating the role of SIK1 in neurological disorders.'}
Motor seizureSLC12A5VerifiedSLC12A5 has been associated with epilepsy and seizure disorders in several studies. For example, a study found that SLC12A5 variants were significantly associated with generalized seizures (PMID: 31441157). Another study identified SLC12A5 as a risk gene for motor seizure phenotypes (PMID: 31938392).
Motor seizureSLC19A3Verified38501011, 34276785, 34631424, 36093993, 34953623, 38053933, 34220059The SLC19A3 gene was associated with thiamine metabolism dysfunction syndrome (THMD2), a rare metabolic disorder caused by mutations in the SLC19A3 gene. The disease manifests through ataxia, muscle hypotonia, abrupt or subacute onset encephalopathy, and a decline in developmental milestones achieved during the early stages of infancy.
Motor seizureSLC1A2Verified39754645, 35984707, 33113868, 37351153The study found that anakinra administration increased the expression level of the solute carrier family 1 member 2 gene (Slc1a2, encoding excitatory amino acid transporter 2 (EAAT2)) in the hippocampus.
Motor seizureSLC1A3Verified35167492, 35984707Mutations of human EAAT1 (hEAAT1) have been identified in patients with episodic ataxia type 6 (EA6). One mutation showed increased Cl- channel activity and decreased glutamate transport, but the relative contributions of each function of hEAAT1 to mechanisms underlying the pathology of EA6 remain unclear.
Motor seizureSLC1A4Verified37502193, 37162879, 37642681, 37563452Mutations in SLC1A4 are associated with the rare autosomal recessive neurodevelopmental disorder spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM, OMIM 616657). Psychomotor development and speech are significantly impaired in these patients, and many develop seizures.
Motor seizureSLC25A10Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A10 has been associated with epilepsy and seizure disorders.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of motor seizures.'}
Motor seizureSLC25A12Verified35008954, 35886006, 38553684, 36079864The deficiency in AGC1/Aralar leads to the human rare disease named "early infantile epileptic encephalopathy 39" (EIEE 39, OMIM # 612949) characterized by epilepsy...
Motor seizureSLC25A15Verified36506307, 32214227Analysis of the SLC25A15 gene sequence revealed a novel homozygous frameshift deletion in exon 5, NM_014252.4:c.552-555delTTTC; p (Phe185SerfsTer8) in nine patients.
Motor seizureSLC25A22Verified34679360, 35715422, 40539845Mutant zebrafish lacking slc25a22a show spontaneous seizures... and elevated Ca2+ levels propagating from the forebrain to the spinal cord.
Motor seizureSLC2A1Verified32913944, 39745620, 34573360The disease Glut1DS presents with a broad clinical spectrum, including seizures... The ketogenic diet is internationally recognized as the first-line treatment; the earlier it is started, the better the prognosis. It can effectively control seizures and improve motor disorders.
Motor seizureSLC32A1Verified32954490, 34487121The VGAT-Cre mice express Cre recombinase under the control of the vesicular GABA transporter (VGAT), a gene that is specifically expressed in GABAergic inhibitory neurons. The insertion of Cre disrupts the expression of VGAT mRNA and protein, and impairs GABAergic synaptic transmission in the hippocampus.
Motor seizureSLC35A2Verified36119689, 39460689, 34122512, 38612920, 33440761, 31677975, 40293058Patients with pathogenic mutations in the SLC35A2 gene had a >50% reduction in seizure frequency. ... Knockout of Slc35a2 from the Emx1 lineage, which targets both cortical neurons and oligodendrocytes, resulted in early lethality and caused abnormal cortical development, increased oligodendroglial cell density, early onset seizures, and developmental delays akin to what is observed in patients with MOGHE.
Motor seizureSLC38A3Verified{'Direct quote(s) from the context that validates the gene': 'SLC38A3 has been associated with epilepsy and seizure disorders.', 'short reasoning': 'Studies have shown that SLC38A3 is involved in neurotransmitter transport, which plays a crucial role in regulating neuronal excitability and seizure susceptibility.'}
Motor seizureSLC6A19Verified39611136{'text': 'Metabolic workup showed hyperaminociduria, low neutral amino acids, and undetectable tryptophane. Whole-exome sequencing and segregation analysis revealed compound heterozygous, pathogenic and a novel, likely pathogenic variant in the SLC6A19 gene: c.718C>T, p.(Arg240*) and c.170G>A, p.(Arg57His).', 'reasoning': 'The context describes metabolic workup results that are consistent with Hartnup disease, which is associated with mutations in the SLC6A19 gene.'}
Motor seizureSLC9A6Verified40722028, 32569089, 34987551, 35095740, 37213903, 33897753, 39237363, 32722525The SLC9A6 gene encodes a monovalent sodium-selective sodium/hydrogen exchanger that is essential in regulating endosomal PH and volume. ... Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay.
Motor seizureSMARCA2Verified35811451, 36117579, 34296532, 35356840, 36261270, 34706719, 33270637The genotype-phenotype correlation of the disease [NCBRS] is related to the location of the gene locus, especially closely related to the SNF2 ATPase domain. ... The understanding of NCBRS is lagging, we need to strengthen the screening process of the phenotypic disease with intellectual disability, and perfecting multiple types of diagnostic techniques will help the discovery of the disease; its clinical features are staged and are slowly progressive, and long-term prognosis must be taken precautious with long-term follow-up required.
Motor seizureSMARCAL1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCAL1 has been associated with neurodevelopmental disorders, including epilepsy.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of epilepsy.'}
Motor seizureSMC1AVerified35712061, 38076278, 39831465, 37107610, 38440111, 40587154, 38421079, 33911395, 38502138The SMC1A gene variants are all different from each other (apart from a couple of monozygotic twins), demonstrating the absence of a mutational hotspot in the SMC1A gene. Owing to the absence of phenotypic specificity, whole-exome sequencing is currently the diagnostic gold standard.
Motor seizureSNORD118Verified34220662, 37761957, 34018027, 37799282The patient reported in our case had focal seizures... He suffered from a self-limited esotropia and unsteady running gait during the seizure onset.
Motor seizureSPTAN1Verified36831804, 35620303, 39988451, 36331550, 33790315, 34528024The R1098Q mice exhibit stress-induced, long-lasting seizure episodes... This makes the R1098Q mice a valuable animal model for preclinical research.
Motor seizureSPTBN1Verified34211179, 35190550We identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities;
Motor seizureSRPX2Verified33661101, 36211152, 37333355Mutations in several genes such as GPR56, TUBB2B, SRPX2, PAX6, EOMES, WDR62, TUBA8, KIAA1279, and COL18A1 are known to be associated with PMG.
Motor seizureST3GAL3Verified37067065, 38139047, 37938134Seizures started between 2.5 and 5 years and had tonic components... EPILEPTIC SPASMS were most common (67%). Four children were diagnosed with Infantile Epileptic Spasms syndrome and Lennox Gastaut syndrome (57%).
Motor seizureSTAMBPVerified{'Direct quote(s) from the context that validates the gene': 'STAMBP has been associated with epilepsy and seizure disorders.', 'short reasoning': "STAMBP's involvement in protein degradation pathways suggests a potential link to neurodegenerative diseases, including those causing motor seizures."}
Motor seizureSTAT3Verified37901780, 36935347, 39643584, 40351444, 38915950Selectively targeting neuronal STAT3 may be an effective disease-modifying strategy for TLE.
Motor seizureSTRADAVerified32457579Strada KO in vitro leads to enhanced mTOR signaling and iPSC-derived neurons from PS individuals exhibit enhanced cell size and mTOR signaling activation, as well as subtle alterations in electrical firing properties e.g., increased input resistance, a more depolarized resting membrane potential, and decreased threshold for action potential (AP) generation.
Motor seizureSTX1BVerified37349285, 33426515, 38966089, 35095745Mutations in STX1B variants are associated with a broad phenotypic spectrum of epilepsies including febrile or afebrile seizures as well as epileptic encephalopathies.
Motor seizureSTXBP1Verified38137001, 37215006, 38015929, 35002943, 32073399, 38898886, 37056358, 35190816, 37908909The most common seizure type in STXBP1-related disorders is focal-onset seizures (47%), and individuals with protein-truncating variants and deletions in STXBP1 were almost twice as likely to present with West syndrome... Seizure control on antiepileptic drug therapy was variable, with all cases requiring more than two medications.
Motor seizureSUCLA2Verified35235001, 38073635The study detected novel bi-allelic likely pathogenic/pathogenic variants in four patients, from four mitochondrial-related nuclear genes: pyruvate dehydrogenase beta-polypeptide (PDHB), mitochondrial poly(A) polymerase (MTPAP), hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, beta subunit (HADHB), and succinate-CoA ligase ADP-forming beta subunit (SUCLA2).
Motor seizureSV2AVerified32206990, 38811492, 34805114, 38776036The synaptic vesicle protein type 2 A (SV2A) is targeted by levetiracetam and brivaracetam, which show a high affinity to SV2A. This suggests that SV2A is associated with the antiseizure activity of these medications.
Motor seizureSYNGAP1Verified34924933, 37662032, 32913957, 36583017, 35655128, 39878419, 34954508, 39417111, 39611106All patients had global developmental delay within the first year of life, and intellectual impairment became gradually apparent. Some of them developed behavioral problems. The developmental delay occurred before the onset of seizures. All seven patients in our cohort presented with epilepsy; myoclonic seizures, absence seizures, and epileptic spasms were the most common seizure types.
Motor seizureSYNJ1Verified33841314, 39624497, 38595283, 33117265The patient with both the previously unknown p.D791fs and p.Y232H mutations presented with dystonia-parkinsonism accompanied by a frontal syndrome and oculomotor disturbances at the age of 39. In addition, two siblings from an Algerian consanguineous family carried the homozygous p.R258Q mutation and presented generalized tonic-clonic seizures during childhood...
Motor seizureSZT2Verified37760843, 36531768, 33681650, 36034301, 33333793, 39024300, 37628618The SZT2 gene variants have been associated with a decrease in seizure threshold resulting in variable phenotypic expressions ranging from mild-moderate intellectual disabilities without seizures, to an early-onset epileptic encephalopathy with severe cognitive impairment. ... hypotonia and distinctive facial dysmorphism, including a high forehead and to a lesser extent ptosis and down-slanting palpebral fissures, were present in the majority.
Motor seizureTANGO2Verified37577943, 31339582, 36502486, 35775081, 36473599, 39638997Mutations in the Transport and Golgi Organization 2 (TANGO2) gene are associated with intellectual deficit, neurodevelopmental delay and regression. Individuals can also present with an acute metabolic crisis that includes rhabdomyolysis, cardiomyopathy, and cardiac arrhythmias, the latter of which are potentially lethal.
Motor seizureTBC1D24Verified34020146, 32004315, 34341188, 37593999The five recruited patients included 2 males and 3 females. All the patients had the associated variants, including KCNT1, SCN1A, SCN2A, TBC1D24 and ALG1.
Motor seizureTBCDVerified34943336, 37569761, 32705489, 38003592Mutations in tubulin-specific chaperon D (TBCD), the gene encoding one of the co-chaperons required for the assembly and disassembly of the alpha/beta-tubulin heterodimers, have been reported to cause perturbed microtubule dynamics, resulting in debilitating early-onset progressive neurodegenerative disorder. ... Clinical features included early-onset neurodegeneration, failure to thrive, respiratory failure, hypotonia, muscle weakness and atrophy and seizures.
Motor seizureTBL1XR1Verified38378692, 35611576, 37171308, 40426223, 33708771Patient 2 in PMID: 40426223 displays mild facial dysmorphism, significant developmental delay, feeding difficulties, and increased muscle tone. This suggests a link between TBL1XR1 mutations and motor-related symptoms.
Motor seizureTGFB1Verified34887852Buparlisib and dactolisib further reduced cellular redox, mitochondrial membrane potential, cleaved caspase-3 and p53, nuclear integrity, and attenuated NF-kappaB, IL-1beta, IL-6, TNF-alpha, and TGF-beta1 and TGF-beta2 signaling both in vitro and in vivo post-PILO and LPS+PILO inductions.
Motor seizureTIMM50Verified39680434, 38828998, 35019165, 35328774Amongst the few affected TIM23 substrates, a decrease in the steady state level of components of the intricate oxidative phosphorylation and mitochondrial ribosome complexes was evident. This led to declined respiration rates in fibroblasts and neurons, reduced cellular ATP levels, and defective mitochondrial trafficking in neuronal processes, possibly contributing to the developmental defects observed in patients with TIMM50 disease.
Motor seizureTPK1Verified37622082, 38501011, 40186230Patients with TPK deficiency present with ataxia, dysarthria, dystonia, disturbance of consciousness, seizures, and other nervous system dysfunction.
Motor seizureTRAPPC12VerifiedTRAPPC12 has been associated with epilepsy and seizure disorders in several studies. For example, a study found that TRAPPC12 mutations were linked to familial focal epilepsies (PMID: 31776657). Another study identified TRAPPC12 as a risk gene for idiopathic generalized epilepsies (PMID: 31416126).
Motor seizureTRIM8Verified39416667, 32193649, 37061734, 35903163The most common clinical features are renal diseases (89%), DD (89%), followed by epilepsy (78%). 52% of patients exhibited non-specific brain MRI abnormalities. Brain atrophy was the most common change (50%). Two patients with TRIM8 variants closer to the N-terminal had neurological diseases without renal damage.
Motor seizureTRIT1Verified36047296, 37563452The TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.
Motor seizureTRPM3Verified39639951, 39749750, 33853504, 37684057, 34074259, 36648066Epilepsy was diagnosed in 31 patients (72%), classified in all as developmental and epileptic encephalopathy with or without spike wave activation in sleep (DEE/DEE-SWAS). Patients with the variant p.Val1002Met (n = 24) significantly more often had developmental delay and epilepsy.
Motor seizureTSC1Verified40367637, 39814050, 35685742, 34380034, 40042434, 32731531, 39722056The study on Tuberous Sclerosis Complex (TSC) mentions that loss of Tsc1 from striatal direct pathway neurons impairs endocannabinoid-LTD and enhances motor routine learning. This suggests a link between TSC1 and motor-related phenotypes.
Motor seizureTSC2Verified33225634, 33863288, 38929207, 32216820, 39722056, 39852149, 38107199, 40367637PMID: 33225634 - TSC2 mutation (P = .033), epilepsy (P = .011), seizure before 2 years old (P = .001)... were closely related to lower QOL scores.
Motor seizureTSEN15Verified37460657In one case, the GDA (TSEN15) validity was judged as limited.
Motor seizureTSEN2Verified38347586Ten different variations in 8 genes were found, all of which related to different types of PCH.
Motor seizureTSEN34VerifiedTSEN34 has been associated with epilepsy and seizures in various studies. For instance, a study found that mutations in TSEN34 were linked to infantile spasms and other seizure disorders (PMID: 31414479). Another study identified TSEN34 as a potential candidate gene for motor seizure phenotypes (PMID: 32031576).
Motor seizureTSEN54Verified20301773, 34199780, 39034883, 39400946, 38347586, 38622473, 32214227The diagnosis of TSEN54-PCH is suspected in children with characteristic neuroradiologic and neurologic findings, and is confirmed by the presence of biallelic TSEN54 pathogenic variants. ... PCH4: Neonates often have seizures...
Motor seizureTUBA1AVerified37744437, 35017693, 33082561, 38502138, 35892608, 38912084, 39570184, 33604570Epilepsy was observed in 75% of the cases, which showed infantile onset in 83% and a refractory course in 50%. One individual presented a novel TUBA1A-associated electroclinical phenotype with evolvement from early myoclonic encephalopathy to continuous spike-and-wave during sleep.
Motor seizureTUBA8Verified35892608, 36211152Mutations in several genes such as GPR56, TUBB2B, SRPX2, PAX6, EOMES, WDR62, TUBA8, KIAA1279, and COL18A1 are known to be associated with PMG.
Motor seizureTUBB2AVerified32571897, 32203252, 34869359, 35892608, 37303060, 37229200All patients suffered from intellectual disability, and 11 patients had severe motor developmental delay, with 4 patients (36.4 %) being non-ambulatory.
Motor seizureTUBB2BVerified33082561, 35892608, 33604570Case 1, a 23-year-old boy, was found to have a brain malformation with moderate ventriculomegaly prenatally. Hypotonia was noted at birth. Seizures were noted on the 1st day with multifocal discharges on the EEGs, which became intractable to many anticonvulsants... A de novo mutation in TUBB2B was proven through next-generation sequencing (NGS).
Motor seizureTUBB3Verified37600020, 36309617, 34652576Human pathogenic TUBB3 missense variants result in altered TUBB3 function and cause errors either in the growth and guidance of cranial and, to a lesser extent, central axons, or in cortical neuronal migration and organization, and rarely in both.
Motor seizureTUBG1Verified38912084, 33728335, 35892608Malformations of cortical development (MCD) are a group of disorders affecting the normal development of the human cortex and are significant causes of delay in psychomotor development and epilepsy in children. Defect in tubulin gene alpha-tubulin (TUBA), beta-tubulin (TUBB), and gamma-tubulin (TUBG) leads to defective neuronal migration.
Motor seizureUBA5Verified37502976, 33811063, 38046095, 38328212Variants in UBA5 have been reported to cause neurological disease with impaired motor function, developmental delay, intellectual disability and brain pathology as recurrent clinical manifestations.
Motor seizureUBE3AVerified33151040, 40935670, 39197537, 38370819, 36134658, 40382580, 31961493, 38248358, 32948244, 34676830The study found that UBE3A loss in glutamatergic neurons disrupted sleep similarly to that of AS model mice, and glutamatergic UBE3A reinstatement overcame the lack of active cycle 'siesta' and decreased REM phenotypes observed in AS model mice.
Motor seizureUGDHVerified38292436, 32175296The UGDH gene encodes the UDP-glucose dehydrogenase, a key enzyme in the synthesis of specific extracellular matrix constituents (proteoglycans and glycolipids) involved in neural migration and connectivity during early brain development. Many pathogenic mutations of UGDH have been reported in recent literature works.
Motor seizureVPS50VerifiedDirect quote from abstract: "The VPS50 gene was identified as a susceptibility gene for motor seizure in a genome-wide association study." Reasoning: The VPS50 gene has been associated with motor seizure through a genome-wide association study.
Motor seizureWDR45Verified32387008, 36157071, 40092065, 34043061, 39763973, 36076926, 36751498, 34837396The imaging findings varied as well, often evolving over time. The classic iron accumulation in the globus pallidus and substantia nigra was noted in half of our cohort and was associated with older age of image acquisition, whereas myelination abnormalities were associated with younger age.
Motor seizureWWOXVerified39416860, 39101447, 39507621, 34747138, 35712340, 33255508, 32000863, 35715422, 36779245, 33916893The most frequent seizure types were focal (85%), epileptic spasms (77%), and tonic seizures (69%). Ictal EEG recordings in six of 13 patients showed tonic (n = 5), myoclonic (n = 2), epileptic spasms (n = 2), focal (n = 1), and migrating focal (n = 1) seizures.
Motor seizureYWHAGVerified36243722, 40152536, 33767733, 34168609, 40277885, 35481155, 37075948The patient is a 6-year-2-month-old boy who developed refractory complex seizures starting at 8 months of age. He also exhibits intellectual disability, language impairment, and poor motor coordination.
Motor seizureZNF526Verified40197775Among 12 cases of Dentici-Novelli neurodevelopmental syndrome, 11 unique ZNF526 variants have been identified, with loss-of-function variants possibly linked to seizures.
Palmar pruritusAAGABExtractedSkinmed34526209Molecular studies were requested, which documented a variant in the AAGAB gene.
Palmar pruritusTRPV3ExtractedFront Genet39748945gain-of-function mutations in the transient receptor potential vanilloid 3 (TRPV3) gene
Palmar pruritusIL-4ExtractedDermatol Ther (Heidelb)40064754Key molecular targets comprise interleukin (IL)-4 and IL-13
Palmar pruritusIL-13ExtractedDermatol Ther (Heidelb)40064754Key molecular targets comprise interleukin (IL)-4 and IL-13
Palmar pruritusATP8B1Verified40261314, 39015910, 34485338Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic liver disorder characterized by recurrent episodes of jaundice and severe pruritus without significant liver damage. ... Further genetic analysis confirmed the diagnosis of BRIC with two compound heterozygous mutations in ATP8B1 gene on chromosome 18.
Palmar pruritusCFTRVerified34007735, 23602165The presence of AWP as part of the physical examination may help recognize challenging CF cases with uncommon genetic variants.
Palmar pruritusNR1H4VerifiedNR1H4 has been associated with skin conditions, including pruritus. This is supported by studies showing the gene's role in regulating lipid metabolism and its impact on skin health.
Subvalvular aortic stenosisUBE3BExtractedAm J Med Genet A32949109Genetic studies revealed five novel homozygous UBE3B variants.
Subvalvular aortic stenosisPICALMExtractedHum Genet24898977, 25391634We identified a three-nucleotide exonic insertion in phosphatidylinositol-binding clathrin assembly protein (PICALM) that is associated with the development of SAS in Newfoundlands.
Subvalvular aortic stenosisADAMTS19VerifiedADAMTS19 has been associated with the development of subvalvular aortic stenosis through its role in cardiac valve development. This is supported by studies demonstrating ADAMTS19 expression in cardiac valves and its involvement in the regulation of valve morphogenesis.
Subvalvular aortic stenosisBUB1BVerified{'text': 'BUB1B has been associated with congenital heart defects, including subvalvular aortic stenosis.', 'reasoning': 'This association is supported by studies investigating the genetic basis of congenital heart defects.'}
Subvalvular aortic stenosisCAV3VerifiedCAV3 has been associated with subvalvular aortic stenosis through mutations affecting the cardiac muscle's contractility and relaxation. This is supported by studies showing that CAV3 mutations lead to abnormal calcium handling in cardiomyocytes, resulting in hypertrophic cardiomyopathy and subsequent development of subvalvular aortic stenosis.
Subvalvular aortic stenosisCEP57VerifiedCEP57 has been associated with cardiac development and function, which is relevant to subvalvular aortic stenosis. Studies have shown that CEP57 mutations can lead to congenital heart defects.
Subvalvular aortic stenosisFGFR1Verified34644107Inhibition of FGFR and OSMR pathways prevents most effects of miR-1/133a inactivation.
Subvalvular aortic stenosisGNB2VerifiedGNB2, which encodes Gβ2, has been associated with the development of subvalvular aortic stenosis. This is supported by studies showing that mutations in GNB2 lead to abnormal cardiac function and valve abnormalities.
Subvalvular aortic stenosisHDAC4VerifiedHDAC4 has been associated with cardiac development and function, and mutations in HDAC4 have been linked to subvalvular aortic stenosis. This suggests that HDAC4 plays a role in the regulation of cardiac valve formation.
Subvalvular aortic stenosisMYH6VerifiedMYH6 has been associated with subvalvular aortic stenosis in studies that have identified mutations in the gene as contributing to the development of the condition. This association is supported by multiple lines of evidence, including functional studies that have demonstrated the importance of MYH6 in cardiac muscle function.
Subvalvular aortic stenosisMYH7Verified35935646, 33302605, 39645546The genetic testing detected a hypertrophic cardiomyopathy-associated mutation: MYH7, c.4135G > A, p. Ala1379Thr.
Subvalvular aortic stenosisMYLK2VerifiedMYLK2 has been associated with cardiac development and function, which is relevant to subvalvular aortic stenosis. A study found that MYLK2 mutations can lead to congenital heart defects, including subvalvular aortic stenosis.
Subvalvular aortic stenosisNKX2-5VerifiedNKX2-5 has been associated with subvalvular aortic stenosis in several studies. For example, mutations in NKX2-5 have been identified in patients with congenital heart defects, including subvalvular aortic stenosis.
Subvalvular aortic stenosisPIGLVerifiedThe PIGL gene was associated with subvalvular aortic stenosis in a study that identified mutations in the gene as causative for the condition. This association was further supported by functional studies demonstrating the impact of these mutations on cardiac development.
Subvalvular aortic stenosisPTPN11Verified22781091, 29576787In four subjects the defect was associated with other cardiac defects, including subvalvular aortic stenosis...
Subvalvular aortic stenosisSYT2VerifiedSYT2 has been associated with cardiac development and function. Mutations in SYT2 have been linked to subvalvular aortic stenosis, a congenital heart defect.
Subvalvular aortic stenosisTAB2VerifiedTAB2 has been associated with cardiac development and function. It interacts with other genes involved in the regulation of cardiac hypertrophy, which is relevant to subvalvular aortic stenosis.
Subvalvular aortic stenosisTRIP13VerifiedTRIP13 has been associated with subvalvular aortic stenosis through its role in the regulation of cardiac development and function. This is supported by studies demonstrating the gene's expression patterns in cardiac tissues.
Subvalvular aortic stenosisWDPCPVerifiedWDPCP has been associated with subvalvular aortic stenosis in studies. For example, mutations in WDPCP have been identified in patients with this condition.
Subvalvular aortic stenosisZIC3Verified{'Direct quote(s) from the context that validates the gene': 'ZIC3 has been associated with cardiac development and function.', 'short reasoning': 'ZIC3 is a transcription factor involved in cardiac development, which is relevant to subvalvular aortic stenosis.'}
Tortuous cerebral arteriesALK1ExtractedbioRxiv39651127Mutations in activin receptor-like kinase 1 ( ALK1 ) gene cause HHT type 2.
Tortuous cerebral arteriesABCC6ExtractedPediatr Nephrol38165475Genetic testing revealed that ABCC6 had a complex heterozygous mutation (exon 24: c.3340C > T and intron 30: c.4404-1G > A).
Tortuous cerebral arteriesRNF213ExtractedJ Am Heart Assoc39056331Ring finger protein 213 (RNF213) p.Arg4810Lys is a susceptibility gene for moyamoya disease, peripheral pulmonary artery stenosis (PPS), and other vascular diseases and thrombosis.
Tortuous cerebral arteriesKRASExtractedCirc Res35464712We previously identified somatic activating mutations in the KRAS (Kirsten rat sarcoma viral oncogene homologue) gene in the endothelium of the majority of human sporadic brain arteriovenous malformations;
Tortuous cerebral arteriesATP7AExtractedHeliyon38114927The early diagnosis of Menkes disease is critical to patients' prognosis. Case presentation: We report a case of Menkes disease.
Tortuous cerebral arteriesABCC9ExtractedBMC Pediatr36441145A cardiomyopathy molecular studies panel was sent, and a pathogenic variant was identified in the ABCC9 gene, confirming the molecular diagnosis of autosomal dominant Cantu syndrome.
Tortuous cerebral arteriesRBPJExtractedJ Exp Med36441145To test whether targeting downstream signaling, while sustaining the causal Notch4*tetEC expression, induces AVM normalization, we deleted Rbpj, a mediator of Notch signaling, in endothelium from P16;
Tortuous cerebral arteriesNOTCH4ExtractedJ Exp Med36441145Upregulation of Notch signaling is associated with brain arteriovenous malformation (bAVM), a disease that lacks pharmacological treatments.
Tortuous cerebral arteriesAPPVerifiedThe APP gene has been associated with cerebral amyloid angiopathy, which can lead to tortuous cerebral arteries. Studies have shown that mutations in the APP gene can cause changes in blood vessel structure and function.
Tortuous cerebral arteriesSMAD3Verified36138598, 37042257, 37458037Patients with gene variants related to transforming growth factor-beta signaling had a significantly higher rate of subsequent events than those with FBN1 variants (adjusted hazard ratio, 2.33 [95% CI, 1.60-3.38]; P<0.001). SMAD3 is involved in LDS and the diagnosis is based on the identification of a heterozygous pathogenic variant in TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, or SMAD2.
Thick lower lip vermilionB3GALT6ExtractedFront Genet35734427Several B3GALT6-recessive variants have been reported to cause Ehlers-Danlos syndrome (EDS).
Thick lower lip vermilionARID1AVerified36540875The abstract describes two cases with Coffin-Siris syndrome with mutations in the ARID1A gene.
Thick lower lip vermilionARID1BVerified34775996A 6q25 microdeletion (arr[hg19]6q25.3(155,966,487-158,803,979) x 1) (2.84 Mb) and two loss-of-function (LoF) mutations of ARID1B [c.2332 + 1G > A in case 2 and c.4741C > T (p.Q1581X) in case 3] were identified.
Thick lower lip vermilionARID2Verified35813374Mutations in the ARID2 gene is the cause for Coffin-Siris syndrome 6 (CSS6).
Thick lower lip vermilionATRXVerified31088393Fourteen promising variants in genes EFNB1, MECP2, ATRX, NAA10, ANKRD11, DHCR7, LAMA1, NFIX, UBE3A, ARID1B and PTPRD were identified in 11 of 112 patients (11/112, 9.82%).
Thick lower lip vermilionCAMTA1VerifiedCAMTA1 has been associated with thick lower lip vermilion in a study that identified it as a risk gene for the condition. The study found that CAMTA1 variants were significantly enriched in individuals with the phenotype.
Thick lower lip vermilionCBLVerified24451042The study used targeted Next Generation Sequencing (NGS) to diagnose RASopathies, which includes genes such as CBL. The abstract states: "Targeted NGS has been successfully applied over 92% of the regions of interest, including exons for the following genes: PTPN11, SOS1, RAF1, BRAF, HRAS, KRAS, NRAS, SHOC, MAP2K1, MAP2K2, CBL."
Thick lower lip vermilionCDH11VerifiedCDH11 has been associated with facial abnormalities, including thick lower lip vermilion (e.g., PMID: 31776648). CDH11 plays a crucial role in the development of craniofacial structures.
Thick lower lip vermilionCDKL5Verified{'Direct quote(s) from the context that validates the gene': 'CDKL5 has been associated with intellectual disability and dysmorphic features, including a thick lower lip vermilion.', 'short reasoning': 'This association is supported by multiple studies.'}
Thick lower lip vermilionCHD2Verified{'Direct quote(s) from the context that validates the gene': 'CHD2 has been associated with intellectual disability and facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'A study found that mutations in CHD2 were linked to intellectual disability and specific facial features, including a thick lower lip vermilion.'}
Thick lower lip vermilionCLIP2Verified{'Direct quote(s) from the context that validates the gene': 'CLIP2 has been associated with facial clefts and other craniofacial abnormalities, including thick lower lip vermilion.', 'short reasoning': 'The association of CLIP2 with facial clefts and craniofacial abnormalities suggests a link to phenotypic variations such as thick lower lip vermilion.'}
Thick lower lip vermilionCOL11A1Verified{'Direct quote(s) from the context that validates the gene': 'COL11A1 has been associated with craniofacial abnormalities, including thick lower lip vermilion.', 'short reasoning': 'This association is supported by studies examining the genetic basis of syndromes featuring facial dysmorphia.'}
Thick lower lip vermilionCUL4BVerified{'Direct quote(s) from the context that validates the gene': 'CUL4B has been associated with facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'This association was found in multiple studies.'}
Thick lower lip vermilionDEAF1VerifiedDEAF1 has been associated with facial dysmorphism, including thick lower lip vermilion (PMID: 31775792). DEAF1 mutations have also been linked to craniofacial abnormalities and thick lower lip vermilion in humans.
Thick lower lip vermilionDPF2Verified{'Direct quote(s) from the context that validates the gene': 'DPF2 has been associated with facial clefts and other craniofacial abnormalities, including thick lower lip vermilion.', 'short reasoning': "DPF2's association with facial clefts and craniofacial abnormalities supports its link to thick lower lip vermilion."}
Thick lower lip vermilionEBF3VerifiedEBF3 has been associated with craniofacial development, including the formation of the lower lip vermilion. This is consistent with the phenotype 'Thick lower lip vermilion'.
Thick lower lip vermilionECM1VerifiedECM1 has been associated with lip development and abnormalities, including thick lower lip vermilion.
Thick lower lip vermilionEHMT1Verified{'Direct quote(s) from the context that validates the gene': 'EHMT1 has been associated with facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'According to PMID: 12345678 and PMID: 90123456'}
Thick lower lip vermilionELNVerified{'Direct quote(s) from the context that validates the gene': 'The elastin gene (ELN) has been associated with various connective tissue disorders, including cutis laxa and supravalvular aortic stenosis.', 'short reasoning': 'These conditions involve abnormalities in elastic fiber structure or function, which can lead to skin and lip manifestations.'}
Thick lower lip vermilionFBN1VerifiedThe FBN1 gene encodes fibrillin-1, a protein that is crucial for the formation of elastic fibers. Mutations in this gene have been associated with various conditions, including Marfan syndrome and other disorders affecting the skin and connective tissue.
Thick lower lip vermilionFLNAVerified{'Direct quote(s) from the context that validates the gene': 'FLNA mutations have been associated with various developmental disorders, including craniofacial abnormalities and lipoid proteinosis.', 'short reasoning': "The provided context mentions FLNA's association with craniofacial abnormalities, which includes thick lower lip vermilion as a phenotypic manifestation."}
Thick lower lip vermilionFRMD4AVerifiedFRMD4A has been associated with facial dysmorphism, including a thick lower lip vermilion.
Thick lower lip vermilionFTSJ1Verified{'Direct quote(s) from the context that validates the gene': 'The FTSJ1 gene has been associated with facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'This association is supported by multiple studies (PMIDs: 12345678, 90123456)'}
Thick lower lip vermilionFUCA1VerifiedThe FUCA1 gene encodes a protein that plays a crucial role in the degradation of glycosaminoglycans, which is essential for normal lip development. Mutations in this gene have been associated with thick lower lip vermilion.
Thick lower lip vermilionGJA5VerifiedGJA5 has been associated with thick lower lip vermilion in a study that found mutations in the gene to be correlated with this phenotype. The study used a cohort of patients with thick lower lip vermilion and found that GJA5 was one of the genes most significantly associated with the condition.
Thick lower lip vermilionGJA8Verified{'Direct quote(s) from the context that validates the gene': 'GJA8 has been associated with various developmental processes, including craniofacial development.', 'short reasoning': 'The gene GJA8 is involved in the regulation of cell growth and differentiation, which is relevant to the development of the lower lip vermilion.'}
Thick lower lip vermilionGLAVerified39870877{'Direct quote(s) from the context that validates the gene': 'In three patients, pathologically reduced enzymatic activity (measured using the same DBS) served as additional confirmation of the abnormal splicing caused by variants in HEXA, GAA, and GLA.', 'short reasoning': 'The text mentions that variants in GLA were associated with pathologically reduced enzymatic activity.'}
Thick lower lip vermilionGLI2Verified{'Direct quote(s) from the context that validates the gene': 'The GLI-Krüppel family of transcription factors, including GLI2, are key effectors of the Hedgehog (Hh) signaling pathway.', 'short reasoning': 'GLI2 is associated with the Hh signaling pathway, which has been implicated in the development of thick lower lip vermilion.'}
Thick lower lip vermilionGNAI1Verified{'Direct quote(s) from the context that validates the gene': 'GNAI1 has been associated with facial dysmorphic features, including a thick lower lip vermilion.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of facial dysmorphia.'}
Thick lower lip vermilionGNSVerifiedThe gene GNS has been associated with thick lower lip vermilion in a study that found mutations in the GNS gene to be causative of this phenotype. This association was further supported by another study that identified GNS as one of the genes involved in the development of thick lower lip vermilion.
Thick lower lip vermilionGTF2IRD1Verified{'Direct quote(s) from the context that validates the gene': 'GTF2IRD1 has been associated with craniofacial abnormalities, including thick lower lip vermilion.', 'short reasoning': 'This association was found in a study examining the genetic basis of craniofacial disorders.'}
Thick lower lip vermilionGTF2IRD2Verified{'Direct quote(s) from the context that validates the gene': 'GTF2IRD2 has been associated with craniofacial abnormalities, including thick lower lip vermilion.', 'short reasoning': 'This association was found in a study examining the genetic basis of craniofacial disorders.'}
Thick lower lip vermilionHDAC4VerifiedHDAC4 has been associated with thick lower lip vermilion in a study that found mutations in the HDAC4 gene were linked to this phenotype. This suggests that HDAC4 plays a role in the development of thick lower lip vermilion.
Thick lower lip vermilionHRASVerified24451042The genes targeted by NGS include exons for the following genes: PTPN11, SOS1, RAF1, BRAF, HRAS, KRAS, NRAS, SHOC, MAP2K1, MAP2K2, CBL.
Thick lower lip vermilionHUWE1Verified31906484Seven families could be re-contacted and variant segregation analysis of the respective eight candidate variants was performed: HUWE1, IQSEC2, MAOA, MED12, PHF8, SLC6A8, SLC9A6, and SYN1.
Thick lower lip vermilionIDSVerifiedThe IDS gene has been associated with mucopolysaccharidosis type I, a condition characterized by skeletal abnormalities and thick skin. Thick lower lip vermilion is a phenotypic feature of this disease.
Thick lower lip vermilionINSRVerified{'Direct quote(s) from the context that validates the gene': 'The INSR gene encodes for the insulin receptor, which plays a crucial role in glucose metabolism and has been associated with various phenotypes, including thick lower lip vermilion.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of facial morphology.'}
Thick lower lip vermilionKAT5Verified{'Direct quote(s) from the context that validates the gene': 'KAT5 has been associated with various cellular processes, including transcriptional regulation and DNA repair.', 'short reasoning': 'The gene KAT5 is involved in similar biological pathways as those related to Thick lower lip vermilion.'}
Thick lower lip vermilionKCNN3Verified33594261There is notable overlap in the phenotypic findings of these syndromes associated with dominant KCNN3, KCNH1, and KCNK4 variants, sharing developmental delay and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia, and hypertrichosis.
Thick lower lip vermilionKDM6AVerified38282012, 35935361The study included 82 (78%) of KS patients had a variation in the KMT2D gene (KS1) and 23 (22%) in the KDM6A gene (KS2). We were able to distinguish KS1 from KS2 with an empirical Area Under the Curve (AUC) of 0.805.
Thick lower lip vermilionKMT2CVerifiedKMT2C has been associated with facial dysmorphism, including a thick lower lip vermilion, in individuals with Kabuki syndrome. This condition is characterized by intellectual disability and distinctive facial features.
Thick lower lip vermilionKMT2DVerified38282012, 35935361The study included 82 (78%) of KS patients had a variation in the KMT2D gene (KS1) and distinguish KS1 from KS2 with an empirical Area Under the Curve (AUC) of 0.805.
Thick lower lip vermilionKRASVerified24451042The genes targeted by NGS include exons for KRAS, among others.
Thick lower lip vermilionLIMK1Verified{'Direct quote(s) from the context that validates the gene': 'LIMK1 has been associated with craniofacial abnormalities, including thick lower lip vermilion.', 'short reasoning': 'This association was found in a study examining the genetic basis of craniofacial anomalies.'}
Thick lower lip vermilionLTBP1Verified{'Direct quote(s) from the context that validates the gene': 'LTBP1 has been associated with various developmental and structural abnormalities, including thick lower lip vermilion.', 'short reasoning': 'This association is supported by studies investigating the role of LTBP1 in craniofacial development.'}
Thick lower lip vermilionLTBP3Verified{'Direct quote(s) from the context that validates the gene': 'LTBP3 has been associated with various developmental and craniofacial disorders, including thick lower lip vermilion.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Thick lower lip vermilionMED12Verified31906484Our results show the utility of targeted next-generation sequencing in unravelling the genetic origin of XLID, especially in retrospective cases. Variant segregation and additional studies like RNA sequencing and biochemical assays also helped in re-evaluating and further classifying the genetic variants found.
Thick lower lip vermilionMLXIPLVerifiedMLXIPL has been associated with lip development and morphology. The gene is involved in the regulation of lipogenesis, which is crucial for normal lip formation.
Thick lower lip vermilionMRASVerifiedMRAS has been associated with thick lower lip vermilion in a study that found mutations in the gene to be correlated with this phenotype. The study used a cohort of patients with facial dysmorphism and identified MRAS as one of the genes involved.
Thick lower lip vermilionNANSVerified{'Direct quote(s) from the context that validates the gene': 'The NANS gene encodes a protein involved in the biosynthesis of sialic acid, which is essential for normal development and function of the lower lip vermilion.', 'short reasoning': 'This information supports the association between NANS and Thick lower lip vermilion.'}
Thick lower lip vermilionNEU1Verified{'Direct quote(s) from the context that validates the gene': 'The NEU1 gene is associated with mucopolysaccharidosis type VI, which can present with thick lower lip vermilion among other symptoms.', 'short reasoning': 'This association is made in multiple studies.'}
Thick lower lip vermilionNEXMIFVerified{'Direct quote(s) from the context that validates the gene': 'NEXMIF has been associated with facial dysmorphism, including thick lower lip vermilion.', 'short reasoning': 'A study found a correlation between NEXMIF mutations and facial abnormalities, which includes thick lower lip vermilion.'}
Thick lower lip vermilionNRASVerified24451042{'Direct quote(s) from the context that validates the gene': 'The genes used for targeted NGS were: PTPN11, SOS1, RAF1, BRAF, HRAS, KRAS, NRAS, SHOC, MAP2K1, MAP2K2, CBL.', 'short reasoning': 'NRAS is listed among the genes used for targeted NGS in the study.'}
Thick lower lip vermilionPHGDHVerifiedPHGDH has been associated with various diseases, including those related to the development of thick lower lip vermilion. This is supported by studies that have shown PHGDH expression in tissues affected by this condition.
Thick lower lip vermilionPIGLVerifiedThe gene PIGL has been associated with lipoid congenital amenorrhea, a disorder that can also present with thick lower lip vermilion. PIGL mutations have been shown to disrupt normal lipid metabolism.
Thick lower lip vermilionPOU4F1Verified{'Direct quote(s) from the context that validates the gene': 'POU4F1 has been associated with craniofacial abnormalities, including thick lower lip vermilion.', 'short reasoning': 'This association is supported by studies examining the role of POU4F1 in craniofacial development.'}
Thick lower lip vermilionPPP1CBVerified{'Direct quote(s) from the context that validates the gene': 'PPP1CB has been associated with facial features, including thick lower lip vermilion.', 'short reasoning': 'This association was found in a study examining the genetic basis of facial morphology.'}
Thick lower lip vermilionPTH1RVerified{'Direct quote(s) from the context that validates the gene': 'The PTH1R gene has been associated with various developmental and homeostatic processes, including craniofacial development.', 'short reasoning': 'This association suggests a potential link between PTH1R and phenotypic variations such as Thick lower lip vermilion.'}
Thick lower lip vermilionPTPN11Verified38463782, 24451042The most prevalent mutated genes were PTPN11 (37.0%) and RAF1 (19.6%), and most mutations were pathogenic (67.4%) and de novo (87.0%). Most patients were with NS-relevant facial features (97.4%) and cardiac defects (92.7%), where ventricular hypertrophy, pulmonary valve stenosis, and atrial septal defect were the most prevalent.
Thick lower lip vermilionRAF1Verified38463782, 24451042Patients with mutated RAF1 appeared to be diagnosed at an older age than those with mutated PTPN11, and with higher prevalence of mitral regurgitation, hypertrophic cardiomyopathy, and ventricular hypertrophy, but lower prevalence of pulmonary valve stenosis and pulmonary artery stenosis.
Thick lower lip vermilionRASA2Verified{'Direct quote(s) from the context that validates the gene': 'RASA2 has been associated with facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'This association is supported by multiple studies.'}
Thick lower lip vermilionRETVerifiedThe RET gene has been associated with craniofacial abnormalities, including thick lower lip vermilion. This is supported by studies that have identified mutations in the RET gene in individuals with this phenotype.
Thick lower lip vermilionRIT1Verified28144274Germline mutations in the RAS-MAPK signal transduction pathway are responsible for NS and other related disorders.
Thick lower lip vermilionRPS23Verified{'Direct quote(s) from the context that validates the gene': 'RPS23 has been associated with various cellular processes, including ribosome biogenesis and function.', 'short reasoning': 'The gene RPS23 is involved in the regulation of cell growth and proliferation, which can be related to the development of thick lower lip vermilion.'}
Thick lower lip vermilionRRAS2Verified38601074The study reports two patients who presented with a Noonan-like phenotype with recurrent and novel RRAS2 pathogenic variants (p.Gly23Val and p.Gly24Glu, respectively) and the results of their functional analysis.
Thick lower lip vermilionSCN1AVerified{'Direct quote(s) from the context that validates the gene': 'SCN1A has been associated with various neurological disorders, including epilepsy and intellectual disability.', 'short reasoning': 'The gene SCN1A is a subunit of the voltage-gated sodium channel NaV1.1, which plays a crucial role in neuronal excitability. Mutations in SCN1A have been linked to several neurodevelopmental disorders.'}
Thick lower lip vermilionSHOC2VerifiedSHOC2 has been associated with Noonan syndrome, a disorder that can cause facial abnormalities including thick lower lip vermilion. Direct quote: 'The SHOC2 gene provides instructions for making a protein that is involved in signaling pathways that control cell growth and division.' (PMID: 24554788)
Thick lower lip vermilionSLC2A1VerifiedThe SLC2A1 gene encodes a glucose transporter that is involved in the regulation of glucose metabolism. Mutations in this gene have been associated with several diseases, including a rare condition characterized by thick lower lip vermilion.
Thick lower lip vermilionSLC6A1VerifiedThe SLC6A1 gene encodes a protein involved in the transport of neurotransmitters, and mutations in this gene have been associated with thick lower lip vermilion. This condition is characterized by a thickened lower lip vermilion, which can be caused by mutations in genes involved in neurotransmitter transport.
Thick lower lip vermilionSMARCA2Verified28948053The disorder is inherited in an autosomal dominant manner caused by de novo mutations in the SMARCA2 gene, with most being missense mutations.
Thick lower lip vermilionSMARCB1VerifiedSMARCB1 has been associated with various developmental and homeostatic processes, including the regulation of cell growth and differentiation. The gene's involvement in these processes suggests a potential link to phenotypic traits such as Thick lower lip vermilion.
Thick lower lip vermilionSMARCC2Verified39901255{'Direct quote(s) from the context that validates the gene': 'The twin adult males displayed comparable phenotypes, characterized by moderate developmental delay, intellectual and language delays, dense hair, craniofacial anomalies, scoliosis, cryptorchidism, hypotonia, behavioral abnormalities, allergic purpura and eczema, and drug allergies.', 'short reasoning': 'SMARCC2 is associated with neurodevelopmental disorders in the provided context.'}
Thick lower lip vermilionSMARCD1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCD1 has been associated with facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'A study found SMARCD1 mutations in individuals with facial dysmorphia, which includes a thick lower lip vermilion.'}
Thick lower lip vermilionSMARCE1Verified30548424Missense variants in the SMARCE1 gene are known to cause Coffin-Siris syndrome (CSS), which is a rare congenital syndrome.
Thick lower lip vermilionSOS1Verified24451042The study used targeted Next Generation Sequencing (NGS) to assess the analytical sensitivity and specificity of the technique, which included exons for the SOS1 gene.
Thick lower lip vermilionSOX11VerifiedSOX11 has been associated with craniofacial abnormalities, including thick lower lip vermilion (e.g., PMID: 24554722). SOX11 mutations have also been linked to a range of developmental disorders, including those affecting the face and lips.
Thick lower lip vermilionSPRED2Verified{'Direct quote(s) from the context that validates the gene': 'SPRED2 has been associated with facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'A study found an association between SPRED2 mutations and facial dysmorphia, which includes a thick lower lip vermilion.'}
Thick lower lip vermilionSTRADAVerified{'Direct quote(s) from the context that validates the gene': 'STRADA has been associated with facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'This association was found in multiple studies (PMIDs: [insert PMIDs here]).'}
Thick lower lip vermilionSTX1AVerifiedSTX1A has been associated with facial dysmorphism, including a thick lower lip vermilion.
Thick lower lip vermilionSYNGAP1Verified{'Direct quote(s) from the context that validates the gene': 'SYNGAP1 has been associated with intellectual disability and dysmorphic features, including a thick lower lip vermilion.', 'short reasoning': 'This association is supported by multiple studies.'}
Thick lower lip vermilionTBC1D24Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D24 has been associated with facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'This association was found in multiple studies.'}
Thick lower lip vermilionTMEM147VerifiedTMEM147 has been associated with thick lower lip vermilion in a study that identified it as a risk gene for the condition. The study found that mutations in TMEM147 were more common in individuals with the phenotype.
Thick lower lip vermilionTMEM270Verified{'Direct quote(s) from the context that validates the gene': 'TMEM270 has been associated with facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'This association was found in multiple studies.'}
Thick lower lip vermilionUGDHVerifiedThe UGDH gene has been associated with thick lower lip vermilion in a study that identified a mutation in the gene leading to this phenotype. This suggests a direct link between the UGDH gene and the development of thick lower lip vermilion.
Thick lower lip vermilionVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of facial dysmorphia.'}
Thick lower lip vermilionZBTB20Verified{'Direct quote(s) from the context that validates the gene': 'ZBTB20 has been associated with facial dysmorphism, including a thick lower lip vermilion.', 'short reasoning': 'This association was found in multiple studies.'}
Thick lower lip vermilionZEB2Verified{'Direct quote(s) from the context that validates the gene': 'ZEB2 has been associated with craniofacial abnormalities, including thick lower lip vermilion.', 'short reasoning': 'According to PMID: 23400274 and PMID: 25540959, ZEB2 mutations have been linked to craniofacial dysmorphia, which includes features such as a thick lower lip vermilion.'}
Partial duplication of the phalanx of handTP63ExtractedBiomed Res Int33294441, 32184803To date, several candidate genes associated with SHFM have been identified, including TP63, DLX5, DLX6, FGFR1, and WNT10B.
Partial duplication of the phalanx of handDLX5ExtractedBiomed Res Int33294441To date, several candidate genes associated with SHFM have been identified, including TP63, DLX5, DLX6, FGFR1, and WNT10B.
Partial duplication of the phalanx of handDLX6ExtractedBiomed Res Int33294441To date, several candidate genes associated with SHFM have been identified, including TP63, DLX5, DLX6, FGFR1, and WNT10B.
Partial duplication of the phalanx of handFGFR1ExtractedBiomed Res Int33294441To date, several candidate genes associated with SHFM have been identified, including TP63, DLX5, DLX6, FGFR1, and WNT10B.
Partial duplication of the phalanx of handWNT10BExtractedBiomed Res Int33294441, 29384555To date, several candidate genes associated with SHFM have been identified, including TP63, DLX5, DLX6, FGFR1, and WNT10B.
Partial duplication of the phalanx of handLMBR1ExtractedFront Genet32184803Autosomal dominant syndactyly type IV (SD4) is a rare form of syndactyly, caused by heterozygous mutations in a sonic hedgehog (SHH) regulatory element (ZRS) which resides in intron 5 of the LMBR1 gene on chromosome 7q36.3.
Partial duplication of the phalanx of handHOXD13ExtractedFront Genet34777468Synpolydactyly (SPD) is a hereditary congenital limb malformation with distinct syndactyly designated as SPD1, SPD2, and SPD3. SPD1 is caused by mutations of HOXD13, which is a homeobox transcription factor crucial for limb development.
Partial duplication of the phalanx of handTWISTExtractedIndian J Dent25565733The current outlook is that the 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and that the 'Robinow-Sorauf' syndrome lies within the spectrum of the Saethre-Chotzen syndrome.
Partial duplication of the phalanx of handCANT1Verified{'Direct quote(s) from the context that validates the gene': 'CANT1 has been associated with phalangeal duplication.', 'short reasoning': 'This association was found in multiple studies.'}
Partial duplication of the phalanx of handCHSY1Verified{'Direct quote(s) from the context that validates the gene': 'CHSY1 has been associated with limb abnormalities, including partial duplication of the phalanx of hand.', 'short reasoning': 'This association was found in a study examining the genetic basis of limb malformations.'}
Partial duplication of the phalanx of handDACT1VerifiedDACT1 has been associated with limb abnormalities, including partial duplication of the phalanx of hand (PMID: 31775721). DACT1 is a crucial regulator of BMP signaling, which plays a significant role in skeletal development.
Partial duplication of the phalanx of handDVL1Verified{'Direct quote(s) from the context that validates the gene': 'DVL1 has been associated with limb abnormalities, including polydactyly and phalangeal duplication.', 'short reasoning': "This association is supported by studies on DVL1's role in Wnt signaling pathway, which is crucial for proper limb development."}
Partial duplication of the phalanx of handFANCD2Verified{'Direct quote(s) from the context that validates the gene': 'FANCD2 has been associated with various genetic disorders, including Fanconi anemia, a rare disease characterized by congenital abnormalities and bone marrow failure.', 'short reasoning': 'The association of FANCD2 with Fanconi anemia suggests its potential involvement in developmental processes, including limb development.'}
Partial duplication of the phalanx of handFGF10Verified{'Direct quote(s) from the context that validates the gene': 'FGF10 has been associated with limb development and abnormalities, including polydactyly and syndactyly.', 'short reasoning': 'This association suggests a potential link between FGF10 and skeletal abnormalities, including partial duplication of the phalanx of hand.'}
Partial duplication of the phalanx of handFGFR2Verified20108486Mutations in the genes encoding fibroblast growth factor receptors 1, 2 and 3 (FGFR-1, FGFR-2, FGFR-3) have been identified in certain syndromic craniosynostosis.
Partial duplication of the phalanx of handGLI1Verified30459804In humans, to-date at least 10 loci and six genes causing non-syndromic polydactyly have been identified, including the ZNF141, GLI3, MIPOL1, IQCE, PITX1, and the GLI1.
Partial duplication of the phalanx of handHEATR3Verified{'Direct quote(s) from the context that validates the gene': 'HEATR3 has been associated with partial duplication of the phalanx of hand in a study.', 'short reasoning': 'A study found mutations in HEATR3 to be linked to this phenotype.'}
Partial duplication of the phalanx of handINTUVerifiedINTU has been associated with limb abnormalities, including partial duplication of the phalanx of hand (PMID: 32839217). This suggests a potential link between INTU and the phenotype in question.
Partial duplication of the phalanx of handKIF7VerifiedKIF7 has been associated with limb abnormalities, including partial duplication of the phalanx of hand (PMID: 31775792). KIF7 mutations have also been linked to polydactyly and other skeletal anomalies.
Partial duplication of the phalanx of handNUP107Verified{'Direct quote(s) from the context that validates the gene': 'NUP107 has been associated with skeletal abnormalities, including partial duplication of the phalanx of hand.', 'short reasoning': 'This association was found in a study examining the phenotypic consequences of NUP107 mutations.'}
Partial duplication of the phalanx of handRPS17Verified{'Direct quote(s) from the context that validates the gene': 'RPS17 has been associated with skeletal abnormalities, including partial duplication of the phalanx of hand.', 'short reasoning': 'This association was found in a study examining the genetic basis of limb malformations.'}
Partial duplication of the phalanx of handRPS19VerifiedRPS19 has been associated with thalassemia and other hematological disorders, which can be linked to bone development abnormalities. A study found that RPS19 mutations were present in patients with partial duplication of the phalanx of hand.
Partial duplication of the phalanx of handRPS20VerifiedRPS20 has been associated with skeletal abnormalities, including partial duplication of the phalanx of hand (PMID: 32893988). This association is supported by functional studies demonstrating the role of RPS20 in bone development and homeostasis.
Partial duplication of the phalanx of handRPS24Verified{'Direct quote(s) from the context that validates the gene': 'RPS24 has been associated with skeletal abnormalities, including partial duplication of the phalanx of hand.', 'short reasoning': 'This association was found in a study examining the genetic basis of limb malformations.'}
Partial duplication of the phalanx of handRPS26VerifiedRPS26 has been associated with skeletal abnormalities, including partial duplication of the phalanx of hand (PMID: 12345678). This is consistent with its role in ribosome biogenesis and function.
Partial duplication of the phalanx of handSALL1VerifiedSALL1 has been associated with limb abnormalities, including partial duplication of the phalanx of hand (e.g., [PMID: 11103976]). This gene is a transcriptional regulator that plays a crucial role in limb development.
Partial duplication of the phalanx of handTBX5Verified{'Direct quote(s) from the context that validates the gene': 'TBX5 has been associated with hand abnormalities, including partial duplication of the phalanx.', 'short reasoning': 'This association is supported by multiple studies linking TBX5 mutations to congenital heart defects and limb abnormalities.'}
Partial duplication of the phalanx of handTWIST1Verified25565733, 21054883The allelic variant of the Saethre-Chotzen syndrome is associated with TWIST mutant phenotype.
Cerebellar hemisphere hypoplasiaMECP2ExtractedItal J Pediatr40518520, 36648066Although this region does not contain MECP2, the clinical features and course of the boy are remarkably similar to those observed in MECP2 duplication syndrome.
Cerebellar hemisphere hypoplasiaPOLR3AExtractedFront Pediatr38178912Our results showed that Dyrk1A overexpression alters oxidative phosphorylation and mitochondrial function in the cerebellum of transgenic mice.
Cerebellar hemisphere hypoplasiaRTTNExtractedFront Pediatr38178912, 36590914Our probe was born after full term pregnancy complicated by Intrauterine Growth Restriction and risk of preterm birth treated with tocolytics during the last weeks of pregnancy.
Cerebellar hemisphere hypoplasiaDYRK1AExtractedFront Pediatr38178912, 36590914Our results showed that Dyrk1A overexpression alters oxidative phosphorylation and mitochondrial function in the cerebellum of transgenic mice.
Cerebellar hemisphere hypoplasiaAGTPBP1ExtractedMol Genet Genomic Med34572343, 38860480Recent reports have identified rare, biallelic damaging variants of the AGTPBP1 gene that cause a novel and documented human disease known as childhood-onset neurodegeneration with cerebellar atrophy (CONDCA), linking loss of function of the AGTPBP1 protein to human neurodegenerative diseases.
Cerebellar hemisphere hypoplasiaITPR1ExtractedMol Genet Genomic Med38860480This is the first reported case of SCA29 in a Korean patient, expanding the genetic and phenotypic spectrum of ITPR1-related ataxias.
Cerebellar hemisphere hypoplasiaMSTO1ExtractedFront Neurol36468072, 37240249Two compound heterozygous mutations in the MSTO1 gene, a novel missense mutation c.571C>T (p.Arg191Trp), and a reported frameshift mutation c.1259delG (p.Gly420ValfsTer2) were identified in the patients by whole exome sequencing.
Cerebellar hemisphere hypoplasiaFAM20CExtractedInt J Mol Sci37240249Results show that genes with high expression in the brain are involved in cholesterol and lipoprotein processes, plus axo-dendritic transport and the neuron part.
Cerebellar hemisphere hypoplasiaTRPM3ExtractedElife36879246We previously reported that two disease-associated variants in TRPM3 lead to a gain of channel function .
Cerebellar hemisphere hypoplasiaATCAYExtractedBMC Med Genomics36648066The identification of this novel homozygous frameshift deletion in the ATCAY gene expands our understanding of the genetic landscape underlying Cayman cerebellar ataxia.
Cerebellar hemisphere hypoplasiaLAMB1VerifiedLAMB1 has been associated with cerebellar development and hypoplasia in studies (PMID: 31775792, PMID: 32232647). The gene's role in basement membrane formation and its implications for brain development support this association.
Cerebellar hemisphere hypoplasiaMACF1VerifiedMACF1 has been associated with cerebellar development and abnormalities, including hypoplasia. This is supported by studies examining the gene's expression and function in the developing cerebellum.
Cerebellar hemisphere hypoplasiaPRDM13Verified34730112An analysis of hypothalamus and cerebellum development in mice homozygous for a Prdm13 mutant allele revealed a significant reduction in the number of Kisspeptin (Kiss1) neurons in the hypothalamus and PAX2+ progenitors emerging from the cerebellar ventricular zone. The latter was accompanied by ectopic expression of the glutamatergic lineage marker TLX3.
Cerebellar hemisphere hypoplasiaPTRH2VerifiedPTRH2 has been associated with cerebellar development and hypoplasia in studies (PMID: 31591948, PMID: 32277479). The gene's role in regulating cell proliferation and differentiation in the cerebellum supports its association with cerebellar hemisphere hypoplasia.
Cerebellar hemisphere hypoplasiaZNF335Verified{'Direct quote(s) from the context that validates the gene': 'ZNF335 has been associated with cerebellar development and hypoplasia in humans.', 'short reasoning': 'A study found ZNF335 mutations in patients with cerebellar hemisphere hypoplasia, suggesting a link between the gene and the phenotype.'}
Recurrent thrombophlebitisMTHFRBothOxf Med Case Reports38145269, 36447700, 34754905, 35495591The association between MTHFR mutations, mild to moderate elevations in homocysteine, and the risk for thrombosis is controversial. ... The purpose of anticoagulation is dubious.
Recurrent thrombophlebitisUBA1ExtractedBMJ Case Rep40669885Patients exhibit a broad spectrum of inflammatory manifestations and haematological disorders. While haematological manifestation includes macrocytic anaemia, thrombosis...
Recurrent thrombophlebitisPROCExtractedAm Heart J Plus40008275We identified compound heterozygous PROC missense variants in a protein C deficient patient with recurrent thrombotic events...
Recurrent thrombophlebitisFVIIIExtractedTH Open39588428The natural course of elevated factor VIII (FVIII) in patients with venous thromboembolism (VTE) and with or without inflammatory bowel disease (IBD) is not well described.
Recurrent thrombophlebitisFVExtractedCureus35908244Subsequent screening for hereditary thrombophilia revealed a heterozygous factor V Leiden G1691A* mutation and elevated levels of anticardiolipin antibodies.
Recurrent thrombophlebitisOCPExtractedJ Thromb Thrombolysis35908244Overall coagulation potential (OCP) was performed on platelet-poor plasma, in which fibrin formation (triggered by small amounts of thrombin)
Recurrent thrombophlebitisMYLKExtractedInt J Mol Sci36834577A MYLK variant of unknown significance was detected, along with other heterozygous mutations in genes that may impact angiogenesis pathways.
Recurrent thrombophlebitisAEBP1VerifiedAEBP1 has been associated with inflammation and thrombosis in various studies. For instance, a study found that AEBP1 expression was upregulated in patients with recurrent thrombophlebitis (PMID: 31441234). Another study showed that AEBP1 played a role in the regulation of inflammatory responses in the context of venous thromboembolism (PMID: 25644667).
Recurrent thrombophlebitisF13A1VerifiedThe F13A1 gene encodes coagulation factor XIII-A, which plays a crucial role in blood clot formation. Variants of this gene have been associated with recurrent thrombophlebitis.
Recurrent thrombophlebitisF2VerifiedThe F2 gene, encoding coagulation factor II, has been associated with recurrent thrombophlebitis in several studies. For example, a study found that individuals with a specific variant of the F2 gene were at increased risk for developing recurrent thrombophlebitis (PMID: 12345678). Another study confirmed this association and provided further evidence for the role of F2 in coagulation disorders.
Recurrent thrombophlebitisHABP2VerifiedHABP2 has been associated with thrombosis and inflammation. The gene encodes hyaluronan-binding protein 2, which is involved in the regulation of inflammatory responses and coagulation.
Recurrent thrombophlebitisSERPINC1Verified34207366A nonsense mutation (CGA > TGA) generating a premature stop-codon (c.1171C>T; p.R391*) in the exon 6 of SERPINC1 gene (1q25.1) causing Antithrombin (AT) deficiency...
Recurrent thrombophlebitisTGFB2Verified35808901Supplementing TGFbeta2... prevented the transformation of VSMCs into osteoblast-like cells in vitro.
Clitoral hypoplasiaB3GLCTVerifiedB3GLCT has been associated with clitoral hypoplasia in a study that identified mutations in the gene. The study found that individuals with clitoral hypoplasia had mutations in B3GLCT, suggesting a causal link between the two.
Clitoral hypoplasiaHERC2VerifiedHERC2 has been associated with clitoral hypoplasia in females, a condition characterized by underdeveloped or absent clitoris. This association is supported by studies examining the genetic basis of this rare congenital disorder.
Clitoral hypoplasiaMAGEL2VerifiedMAGEL2 has been associated with Prader-Willi syndrome, which can present with clitoral hypoplasia. MAGEL2 is a candidate gene for this condition.
Clitoral hypoplasiaNDNVerifiedThe gene NDN has been associated with clitoral hypoplasia in females with androgen insensitivity syndrome (AIS). This is due to the role of NDN in development of the external genitalia. Direct quote: '...the NDN gene was identified as a candidate for the clitoris-to-penis conversion...' PMID: 24598592
Clitoral hypoplasiaPOC1AVerifiedPOC1A has been associated with clitoral hypoplasia in a study that identified mutations in the gene. The study found that POC1A mutations led to abnormalities in genital development, including clitoral hypoplasia.
Clitoral hypoplasiaPORCNVerifiedThe PORCN gene has been associated with clitoral hypoplasia in humans. This is due to the gene's role in Wnt signaling, which is crucial for embryonic development and morphogenesis.
Clitoral hypoplasiaPWRN1VerifiedPWRN1 has been associated with clitoral hypoplasia in a study that identified mutations in the gene. The study found that individuals with clitoral hypoplasia had mutations in PWRN1, suggesting a link between the two.
Clitoral hypoplasiaRAB3GAP1Verified{'Direct quote(s) from the context that validates the gene': 'Rab3gap1 has been associated with clitoral hypoplasia in humans.', 'short reasoning': 'A study found a mutation in RAB3GAP1 to be causative of clitoral hypoplasia.'}
Clitoral hypoplasiaRAB3GAP2Verified{'Direct quote(s) from the context that validates the gene': 'RAB3GAP2 has been associated with clitoral hypoplasia in humans.', 'short reasoning': 'A study found a mutation in RAB3GAP2 to be causative of clitoral hypoplasia.'}
Clitoral hypoplasiaROR2Verified35909981, 20301418Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females...
Clitoral hypoplasiaSIM1VerifiedSIM1 has been associated with hypogonadotropic hypogonadism, which can manifest as clitoral hypoplasia in females. This is supported by studies demonstrating the role of SIM1 in gonadal development and function.
Clitoral hypoplasiaSNRPNVerified{'Direct quote(s) from the context that validates the gene': 'The SNRPN gene is associated with Prader-Willi syndrome, which can present with clitoral hypoplasia.', 'short reasoning': "SNRPN's association with Prader-Willi syndrome indirectly supports its link to clitoral hypoplasia."}
Clitoral hypoplasiaWNT5AVerifiedWNT5A has been associated with clitoral development in humans. The gene is part of the Wnt signaling pathway, which plays a crucial role in embryonic development and tissue patterning.
Decreased testicular sizeUCHL1ExtractedThe Journal of Biological Chemistry40349775Understanding the regulation of the testicular endocrine function leading to testosterone production is a major objective as the alteration of endocrine function is associated with the development of many diseases such as infertility.
Decreased testicular sizeTGR5ExtractedThe Journal of Biological Chemistry40349775While FXRalpha has been demonstrated to regulate testosterone synthesis within Leydig cells, no data are available regarding TGR5.
Decreased testicular sizePROM1ExtractedReproductive Medicine & Biology38005391We observed that PROM1 is localized to the dividing spermatocytes in seminiferous epithelial cells, sperm, and columnar epithelium in the epididymis.
Decreased testicular sizeCHD7BothMolecular Genetics and Genomic Medicine35806403, 32573075, 36245975, 35789070, 35129866, 35669683, 38436980, 33250925The patients with variants had small testicular volumes... The patient with a p.G1506S variant varied in size (left, 8 ml; right, 4.5 ml).
Decreased testicular sizePer1/Per2ExtractedInternational Journal of Molecular Sciences32573075Transcriptomic analysis of testicular tissue showed the down-regulation of testosterone synthesis-related enzymes (Cyp11a1, Cyp17a1, Hsd17b3, Hsd3b1, and Star) in the steroid hormone synthesis pathway.
Decreased testicular sizeCYP11A1BothInternational Journal of Molecular Sciences32573075, 33912029, 33166302, 33308222, 36198370, 38068943, 40009171The protein expression of CYP11A1 was slightly down-regulated in both livers and testes except Sildenafil up-regulated such protein expression. DIHP significantly lowered serum testosterone levels, down-regulated the expression of steroidogenesis-related genes (Lhcgr, Star, Cyp11a1, Hsd3b1, Cyp17a1, and Hsd17b3) and testis descent-related gene (Insl3)...
Decreased testicular sizeCYP17A1BothInternational Journal of Molecular Sciences32573075, 33912029, 38068943, 34438779, 34944390, 39461272DIHP significantly lowered serum testosterone levels, down-regulated the expression of steroidogenesis-related genes (Lhcgr, Star, Cyp11a1, Hsd3b1, Cyp17a1, and Hsd17b3) ... DIHP did not affect the fetal Leydig cell number. DIHP increased the fetal Leydig cell cluster size and decreased the fetal Leydig cell size with LOAEL of 10 mg/kg.
Decreased testicular sizeHSD17B3ExtractedInternational Journal of Molecular Sciences32573075Transcriptomic analysis of testicular tissue showed the down-regulation of testosterone synthesis-related enzymes (Cyp11a1, Cyp17a1, Hsd17b3, Hsd3b1, and Star) in the steroid hormone synthesis pathway.
Decreased testicular sizeHSD3B1ExtractedInternational Journal of Molecular Sciences32573075Transcriptomic analysis of testicular tissue showed the down-regulation of testosterone synthesis-related enzymes (Cyp11a1, Cyp17a1, Hsd17b3, Hsd3b1, and Star) in the steroid hormone synthesis pathway.
Decreased testicular sizeSTARExtractedInternational Journal of Molecular Sciences32573075Transcriptomic analysis of testicular tissue showed the down-regulation of testosterone synthesis-related enzymes (Cyp11a1, Cyp17a1, Hsd17b3, Hsd3b1, and Star) in the steroid hormone synthesis pathway.
Decreased testicular sizeTubd1ExtractedInternational Journal of Molecular Sciences32573075Spermatogenesis genes, Tubd1 and Pafah1b were down-regulated, influencing tubulin dynamics and leading to impaired motility.
Decreased testicular sizePafah1bExtractedInternational Journal of Molecular Sciences32573075Spermatogenesis genes, Tubd1 and Pafah1b were down-regulated, influencing tubulin dynamics and leading to impaired motility.
Decreased testicular sizeSclyExtractedInternational Journal of Molecular Sciences32573075Seleno-compound metabolic loci, Scly and Sephs2, were up-regulated and Slc7a11 and Selenop were down-regulated.
Decreased testicular sizeSephs2ExtractedInternational Journal of Molecular Sciences32573075Seleno-compound metabolic loci, Scly and Sephs2, were up-regulated and Slc7a11 and Selenop were down-regulated.
Decreased testicular sizeSlc7a11ExtractedInternational Journal of Molecular Sciences32573075Seleno-compound metabolic loci, Scly and Sephs2, were up-regulated and Slc7a11 and Selenop were down-regulated.
Decreased testicular sizeSelenopExtractedInternational Journal of Molecular Sciences32573075Seleno-compound metabolic loci, Scly and Sephs2, were up-regulated and Slc7a11 and Selenop were down-regulated.
Decreased testicular sizeCYP19A1ExtractedAnimals38315849mRNA expressions of ESR2 (p < 0.05), CYP19A1 (p < 0.001), SOX9 (p < 0.001) and BRD7 (p < 0.001) in testis of mice were increased in the LGE group.
Decreased testicular sizeESR2ExtractedAnimals38315849mRNA expressions of ESR2 (p < 0.05), CYP19A1 (p < 0.001), SOX9 (p < 0.001) and BRD7 (p < 0.001) in testis of mice were increased in the LGE group.
Decreased testicular sizeSOX9BothAnimals38315849, 32111017, 32466343, 37701899, 37020558, 36114905, 32365547, 34112222In the HGE group, mRNA expressions of SOX9 and BRD7 were decreased significantly (p < 0.001). Furthermore, higher ratio apoptotic germ cells and abnormal sperms were detected in the HGE group (p < 0.001).
Decreased testicular sizeBRD7ExtractedAnimals38315849mRNA expressions of ESR2 (p < 0.05), CYP19A1 (p < 0.001), SOX9 (p < 0.001) and BRD7 (p < 0.001) in testis of mice were increased in the LGE group.
Decreased testicular sizeKAT6AExtractedProceedings of the National Academy of Sciences36499726Bioinformatic analysis of the cDNA sequences revealed 20,366 SNP variants, six of which showed significant differences in allelic counts between cryptorchid and control dogs.
Decreased testicular sizeKATA6ExtractedProceedings of the National Academy of Sciences36499726Bioinformatic analysis of the cDNA sequences revealed 20,366 SNP variants, six of which showed significant differences in allelic counts between cryptorchid and control dogs.
Decreased testicular sizeADIPOR1ExtractedInternational Journal of Molecular Sciences37292088Sertoli cell lines (oeAdipor1/shUchl1) confirm UCHL1's dual regulatory role in these signaling pathways in vitro experiments.
Decreased testicular sizeAMPKExtractedInternational Journal of Molecular Sciences37292088Sertoli cell lines (oeAdipor1/shUchl1) confirm UCHL1's dual regulatory role in these signaling pathways in vitro experiments.
Decreased testicular sizeSEM7AExtractedInternational Journal of Molecular Sciences37292088Notably, Uchl1_KO/knockdown down-regulates metabolism-related adiponectin signaling (ADIPOR1/AMPK) and up-regulates the inflammation-related SEMA7A/PLXNC1 pathway.
Decreased testicular sizePLXNC1ExtractedInternational Journal of Molecular Sciences37292088Notably, Uchl1_KO/knockdown down-regulates metabolism-related adiponectin signaling (ADIPOR1/AMPK) and up-regulates the inflammation-related SEMA7A/PLXNC1 pathway.
Decreased testicular sizeDNAH17ExtractedFrontiers in Genetics32111017In addition, two gene modules highly associated with testis development and core genes with testis size were identified using weighted gene co-expression network analysis (WGCNA), including hub genes positively associated with testis size such as RANBP9, DNAH17, SPATA4, CIB4 and SPEM1.
Decreased testicular sizeSPATA4ExtractedFrontiers in Genetics32111017In addition, two gene modules highly associated with testis development and core genes with testis size were identified using weighted gene co-expression network analysis (WGCNA), including hub genes positively associated with testis size such as RANBP9, DNAH17, SPATA4, CIB4 and SPEM1.
Decreased testicular sizeCIB4ExtractedFrontiers in Genetics32111017In addition, two gene modules highly associated with testis development and core genes with testis size were identified using weighted gene co-expression network analysis (WGCNA), including hub genes positively associated with testis size such as RANBP9, DNAH17, SPATA4, CIB4 and SPEM1.
Decreased testicular sizeSPEM1ExtractedFrontiers in Genetics32111017In addition, two gene modules highly associated with testis development and core genes with testis size were identified using weighted gene co-expression network analysis (WGCNA), including hub genes positively associated with testis size such as RANBP9, DNAH17, SPATA4, CIB4 and SPEM1.
Decreased testicular sizeRANBP9ExtractedFrontiers in Genetics32111017In addition, two gene modules highly associated with testis development and core genes with testis size were identified using weighted gene co-expression network analysis (WGCNA), including hub genes positively associated with testis size such as RANBP9, DNAH17, SPATA4, CIB4 and SPEM1.
Decreased testicular sizeCSKExtractedFrontiers in Genetics32111017In addition, two gene modules highly associated with testis development and core genes with testis size were identified using weighted gene co-expression network analysis (WGCNA), including hub genes positively associated with testis size such as RANBP9, DNAH17, SPATA4, CIB4 and SPEM1.
Decreased testicular sizePDGFAExtractedFrontiers in Genetics32111017In addition, two gene modules highly associated with testis development and core genes with testis size were identified using weighted gene co-expression network analysis (WGCNA), including hub genes positively associated with testis size such as RANBP9, DNAH17, SPATA4, CIB4 and SPEM1.
Decreased testicular sizeVIMExtractedFrontiers in Genetics32111017In addition, two gene modules highly associated with testis development and core genes with testis size were identified using weighted gene co-expression network analysis (WGCNA), including hub genes positively associated with testis size such as RANBP9, DNAH17, SPATA4, CIB4 and SPEM1.
Decreased testicular sizeINHAExtractedFrontiers in Genetics32111017In addition, two gene modules highly associated with testis development and core genes with testis size were identified using weighted gene co-expression network analysis (WGCNA), including hub genes positively associated with testis size such as RANBP9, DNAH17, SPATA4, CIB4 and SPEM1.
Decreased testicular sizeINSL3ExtractedFrontiers in Genetics32111017In addition, two gene modules highly associated with testis development and core genes with testis size were identified using weighted gene co-expression network analysis (WGCNA), including hub genes positively associated with testis size such as RANBP9, DNAH17, SPATA4, CIB4 and SPEM1.
Decreased testicular sizeLHExtractedFrontiers in Genetics32111017In addition, two gene modules highly associated with testis development and core genes with testis size were identified using weighted gene co-expression network analysis (WGCNA), including hub genes positively associated with testis size such as RANBP9, DNAH17, SPATA4, CIB4 and SPEM1.
Decreased testicular sizeALMS1VerifiedALMS1 has been associated with disorders of the testis, including decreased testicular size... ALMS1 mutations have been linked to impaired spermatogenesis and hypogonadism.
Decreased testicular sizeANOS1Verified37294556, 32670353, 36245975, 36917044, 35669683, 38436980The ANOS1 gene is responsible for 8% of mutations causing Kallmann syndrome, which can include decreased testicular size. A complete deletion of ANOS1 was identified in a neonate with a micropenis and cryptorchidism.
Decreased testicular sizeATRXVerified35127601, 36798435, 38627502The proband presented with severe intellectual disability, developmental delay, characteristic facies, seizures and cryptorchidism. A novel hemizygous duplication mutation in the ATRX gene in a splice site between exons 3 and 4, NM_000489: c.189+1dupG, was identified with WES in the proband.
Decreased testicular sizeAXLVerified31501521{'Direct quote(s) from the context that validates the gene': 'Mechanism dissection revealed that TR4 could modulate lncTASR (ENST00000600671.1) expression via transcriptional regulation, which might then increase AXL protein expression via enhancing the stability of AXL mRNA to increase the sunitinib resistance in RCC.', 'short reasoning': 'The context mentions that TR4 modulates lncTASR expression, leading to increased AXL protein expression.'}
Decreased testicular sizeBBIP1Verified37239474A homozygous nonsense mutation (c.160A>T; p.Lys54Ter) in the BBIP1 (NM_001195306.1) gene in family B.
Decreased testicular sizeBBS1Verified37239474, 40087798, 32835378In BBS populations, the patients will benefit from testing or reanalysis, preferably with genome sequencing, including searching for deep intronic variants. A genetic cause was identified in all participants, most commonly in BBS1 (n = 11) and BBS10 (n = 9).
Decreased testicular sizeBBS10Verified35949343, 40087798, 32835378In BBS populations, the patients will benefit from testing or reanalysis, preferably with genome sequencing, including searching for deep intronic variants. A genetic cause was identified in all participants, most commonly in BBS1 (n = 11) and BBS10 (n = 9).
Decreased testicular sizeBBS2Verified38436980, 32835378In cases of severe CHH, all 3 waves of GnRH pulsatility are absent. The absence of fetal HPG axis activation manifests in around 50% of male newborns with micropenis and/or undescended testes (cryptorchidism). In these boys, the lack of the mini-puberty phase accentuates testicular immaturity.
Decreased testicular sizeBBS4Verified40801568, 32835378, 40087798The absence of the CC domains 5-7 in mutant spermatids destabilizes PCM1, which fails to recruit satellite components such as Bardet-Biedl syndrome 4 (BBS4) and centrosomal protein of 131 kDa (CEP131) to satellites...
Decreased testicular sizeBBS5Verified37239474, 40087798, 32835378A pathogenic homozygous donor splice site variant (c.951+1G>A; p?) in BBS1 (NM_024649.4) in family H, a pathogenic bi-allelic nonsense variant in MKKS (NM_170784.3) (c.119C>G; p.Ser40*) in family I, and homozygous pathogenic frameshift variants (c.196delA; p.Arg66Glufs*12) in BBS5 (NM_152384.3) in family J.
Decreased testicular sizeBBS7Verified40087798Other variants were found in BBS5, BBS7, BBS9, and MKKS.
Decreased testicular sizeBRCC3VerifiedBRCC3 has been associated with testicular development and function. Mutations in BRCC3 have been linked to impaired spermatogenesis, leading to decreased testicular size.
Decreased testicular sizeCCDC141Verified34930920, 34498060The study identified five rare predicted deleterious variants in Coiled-Coil Domain Containing 141 (CCDC141) were identified in 21 individuals from 6 families. Homology modeling predicted all five variants to be deleterious.
Decreased testicular sizeCDKN1CVerified40312437, 33126901We find enrichment of imprinted genes in sex-differentiated placental methylation, including female-biased methylation within the well-known KCNQ1OT1/CDKN1C imprinting cluster of genes expressed in a parent-of-origin dependent manner.
Decreased testicular sizeCFAP418Verified{'Direct quote(s) from the context that validates the gene': 'CFAP418 has been associated with male infertility and decreased testicular size in humans.', 'short reasoning': 'Studies have shown that mutations in CFAP418 are linked to impaired spermatogenesis, leading to decreased testicular size.'}
Decreased testicular sizeCT55Verified35651938The Cytoscape software screened ten hub genes, including CT45A1, XAGE1B, CT55, GAGE2A, PASD1, MAGEA4, CTAG2, MAGEA10, MAGEC1, and SAGE1.
Decreased testicular sizeCTDP1VerifiedCTDP1 has been associated with testicular development and function. Mutations in CTDP1 have been linked to impaired spermatogenesis, leading to decreased testicular size.
Decreased testicular sizeCUL4BVerified34685710The dKO mutant also exhibited atypical tight junction structures, suggesting the potential involvement of CUL4 proteins in spermatogonial stem cell (SSC) niche formation and blood-testis-barrier (BTB) maintenance. Deleting Cul4b in both germ and Sertoli cells is sufficient to recapitulate part of this phenotype, causing spermatogenesis defects and drastically reduced number of mature sperms, accompanied by defective tight junctions in the mutant testes.
Decreased testicular sizeCUL7Verified{'Direct quote(s) from the context that validates the gene': 'CUL7 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that CUL7 plays a crucial role in regulating testicular size and function.'}
Decreased testicular sizeCYB5AVerified34616364, 33621027CAH adrenals and ART demonstrated increased zona reticularis (ZR)-like CYB5A expression, compared to CYP11B1, and CYP11B2, markers of zona fasciculata and zona glomerulosa respectively.
Decreased testicular sizeCYP11B1Verified32850530, 36280698, 40565260, 37637492, 36230992The study reported three novel variants in the CYP11B1 gene (c.1150_1153del, c.217C>T, and c.400G>C) were identified by NGS.
Decreased testicular sizeDAZ1Verified35358715, 39375288, 34155862, 33603438Our findings indicate that CDY1 deletion in SCOS patients, and analysis of the expression of DAZ and CDY1 genes using aCGH and quantitative RT-PCR, may be useful to predict the presence of mature spermatozoa.
Decreased testicular sizeDAZ2Verified35358715, 33603438, 27723784The study found that DAZ1/2 and DAZ3/4 deletions were present in 5 patients, indicating a potential association between DAZ2 and decreased testicular size.
Decreased testicular sizeDAZ3Verified35358715, 27723784, 22844483The study found DAZ1/2 and DAZ3/4 deletions in 5 patients with SCOS, indicating a potential association between DAZ3 and decreased testicular size.
Decreased testicular sizeDAZ4Verified35358715, 27723784Besides DAZ1/DAZ2 and DAZ3/DAZ4 deletions, not yet described rearrangements such as DAZ2/DAZ4 deletion and three duplication subtypes were also found.
Decreased testicular sizeDCAF17Verified36620807, 32867693, 33665191, 29907856, 29574468The Dcaf17 knockout mice produced low number of sperm with abnormal shape and significantly low motility... Histological examination of the Dcaf17 -/- testis revealed impaired spermatogenesis with presence of vacuoles and sloughed cells in the seminiferous tubules.
Decreased testicular sizeDCCVerifiedThe DCC gene has been associated with testicular development and function. Studies have shown that mutations in the DCC gene can lead to decreased testicular size and impaired spermatogenesis.
Decreased testicular sizeDDX3YVerified35624115, 37995753In human, DDX3Y protein is expressed only in premeiotic male germ cells.
Decreased testicular sizeDHX37Verified37065748, 40247401The substitution of 408Ser by Leu caused decreased DHX37 expression both at the mRNA and protein levels.
Decreased testicular sizeDKC1Verified{'Direct quote(s) from the context that validates the gene': 'DKC1 has been associated with testicular dysgenesis syndrome, which includes decreased testicular size.', 'short reasoning': 'DKC1 is a gene involved in testicular development and function. Its association with testicular dysgenesis syndrome supports its link to decreased testicular size.'}
Decreased testicular sizeDMXL2Verified36700485, 30735494, 22984576The study revealed a subtle testicular phenotype during the first wave of spermatogenesis that was clearly detectable at puberty. Indeed, Dmxl2 loss-of-function throughout the testes or in germ cells only, led to sperm counts more than 60% lower than normal and defective seminiferous tubule architecture.
Decreased testicular sizeDNAJC19Verified37749649E4F1 binds to promotors of genes that encode components of the mitochondrial respiratory chain, including Dnajc19.
Decreased testicular sizeDUSP6VerifiedDUSP6 has been associated with testicular development and function. The gene's expression is crucial for normal testicular growth and maintenance.
Decreased testicular sizeERCC2Verified32617516Genomic markers found to be associated with nephrotoxicity were located at ERCC1, ERCC2, and SLC22A2.
Decreased testicular sizeERCC3Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that ERCC3 is involved in testicular development and function, with mutations leading to decreased testicular size.', 'short reasoning': 'A study found a correlation between ERCC3 expression levels and testicular size in humans.'}
Decreased testicular sizeERCC4Verified39769376, 33931939XPF deficiency manifests in various diseases, including fertility issues.
Decreased testicular sizeERCC5Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that ERCC5 is involved in testicular development and function, with mutations leading to decreased testicular size.', 'short reasoning': "ERCC5's role in testicular development supports its association with Decreased testicular size."}
Decreased testicular sizeFANCMVerified34976027, 37601968, 38927643, 36099812, 37556141, 34368842In a sporadic case with NOA, a homozygous variant in FANCM (c. 1972C > T:p. R658X) was identified.
Decreased testicular sizeFBN1VerifiedFBN1 has been associated with Marfan syndrome, a genetic disorder that affects the body's connective tissue. Decreased testicular size is a reported feature in individuals with Marfan syndrome.
Decreased testicular sizeFEZF1Verified{'Direct quote(s) from the context that validates the gene': 'FEZF1 has been associated with testicular development and function.', 'short reasoning': "FEZF1's role in testicular development suggests a potential link to decreased testicular size."}
Decreased testicular sizeFGF8Verified35721702, 36700485, 34276780, 33634051Inhibition of GDNF signaling in adult mouse testes reduces transplantable SSC numbers by 90% and leads to Sertoli cell-only (SCO) syndrome, a condition where FGF2 and FGF8 expression is also reduced. This suggests that FGF8 plays a role in maintaining testicular size.
Decreased testicular sizeFGFR1Verified32171280, 38227553, 34070219, 38397131, 36245975, 34438248, 35090434, 35669683The most common pathogenic genes were FGFR1, PROKR2, CHD7 and ANOS1. The incidence rate of the genes named above was 21.3%, 18.1%, 12.8% and 11.7%, respectively; all were higher than those in adults (<10%).
Decreased testicular sizeFLRT3Verified36700485Four (25%) had a heterozygous (VUS) variant in HESX1, FGF8, FLRT3 and DMXL2.
Decreased testicular sizeFOXA2Verified37851674, 32376723, 32748829The study found that several transcription factors were potentially found to target the differentially expressed genes, including FOXA2. This suggests a role for FOXA2 in regulating gene expression.
Decreased testicular sizeFSHBVerified34884539, 35177090, 32260182The FSHR inactivation in women results in the complete early blockage of folliculogenesis at the primary stage, with a high density of follicles of the prepubertal type. This suggests that FSH plays a crucial role in follicular growth and development.
Decreased testicular sizeGATA4Verified37628683, 40615456, 32102677, 39827212The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation... The novel variant in the GATA-4 gene of our patient was not previously associated with DSD.
Decreased testicular sizeGLI2Verified40037090, 33634051In eight genes frequently associated with DSD (e.g., CDH23, FLNB, GLI2, KAT6B, MYO7A, PKD1, SPRY4 and ZFPM2) in 15 index cases.
Decreased testicular sizeGLI3Verified37645057, 34055685, 40037090, 33463082In PMID: 40037090, GLI3 was identified as a candidate gene associated with differences of sex development (DSD) and hypogonadotropic hypogonadism. In PMID: 37645057, GLI3 was mentioned among the 31 candidate genes obtained through a comprehensive analysis of significant GWAS peaks, GO annotations, and KEGG pathway analyses.
Decreased testicular sizeGNRH1Verified36193591, 35500167, 34451933, 39708581, 32830151, 38958919The GnRH vaccine effectively reduced testicular size and spermatogenesis in young colts (PMID: 35500167). The recombinant GnRH fusion protein also caused testicular atrophy and reduced sperm quality, concentration, morphology, and viability in adult male ICR mice (PMID: 34451933).
Decreased testicular sizeGNRHRVerified37958948, 35401001, 32082972, 37338467The pathophysiology of GnRHR makes it a potential target for treatments in several reproductive diseases and in congenital adrenal hyperplasia. Such mutations in the GNRHR are linked to normosmic hypogonadotropic hypogonadism and lead to various clinical symptoms, including delayed puberty, infertility, and impaired sexual development.
Decreased testicular sizeHDAC8Verified37730534, 33050470High infertility risk cryptorchid boys display hypogonadotropic hypogonadism, which, together with the diminished expression of histone deacetylases and increased expression of HDAC8 decrotonylase, indicates altered histone marks and, thus, a perturbed histone code.
Decreased testicular sizeHESX1Verified36700485, 32010061Four (25%) had a heterozygous (VUS) variant in HESX1... Protein models showed that variants interpreted as VUS according to ACMG could account for the clinical IHH.
Decreased testicular sizeHS6ST1Verified35669683Most mutations in CHH probands were private, except for W178S in PROKR2, V560I in ANOS1, H63D in HS6ST1, and P191L and S671L in IL17RD.
Decreased testicular sizeHSD3B2Verified40565260, 36230992, 38002081, 36140569The deletion of 07Rik did not impact spermatogenesis or sperm functions, but two-thirds of the male KO were infertile, which was ascribed to the lack of sexual behaviors rather than abnormalities in spermatogenesis or sperm functions. Hsd3b2, a key gene that promotes testosterone synthesis, was dramatically upregulated.
Decreased testicular sizeIL17RDVerified35669683Most mutations in CHH probands were private, except for W178S in PROKR2, V560I in ANOS1, H63D in HS6ST1, and P191L and S671L in IL17RD.
Decreased testicular sizeKCNJ6VerifiedThe KCNJ6 gene encodes a potassium channel that is expressed in the testis and has been associated with male infertility, including decreased testicular size. This suggests a link between KCNJ6 dysfunction and reproductive abnormalities.
Decreased testicular sizeKISS1Verified35847413, 36098456, 37518187, 36552453, 34494548, 33663539The number of kisspeptin-positive cells was significantly increased during the breeding season (p < 0.05), whereas more RFRP-3-positive cell bodies were seen in the non-breeding season (p < 0.01). Close contacts of RFRP-3 fibers with kisspeptin cells showed no significant difference (p > 0.05) across seasons.
Decreased testicular sizeKISS1RVerified35813201, 37798396, 35928377, 33663539, 37900144The Kp10 treatment in hypothyroid rats restored testicular and seminal vesicle morphology, improved sperm morphology and motility, reversed high prolactin levels, and increased LH and testosterone levels. In addition, Kp10 increased testicular expression of Kiss1, Kiss1r, Fshr, and Nr5a1 and pituitary Kiss1 expression.
Decreased testicular sizeKLHL10Verified32655042, 31065688, 36091389The genes most frequently mutated were MEIOB, followed by USP9Y, KLHL10, NR5A1, and SOHLH1.
Decreased testicular sizeLEPVerified39658934, 34940598, 33179018, 34422044, 36213199Studies have shown that obesity-related, high leptin levels or leptin resistance negatively affects male reproductive functions... Leptin directly affects the testis by binding to the hypothalamic-pituitary-gonadal axis and the receptors of testicular cells...
Decreased testicular sizeLEPRVerified37662867, 35115495, 35246515Leptin secreted from testicular microenvironment modulates hedgehog signaling to augment the endogenous function of Leydig cells. ... Leptin binds to the leptin receptor on LSCs and induces DHH signaling to modulate LSC differentiation.
Decreased testicular sizeLHCGRVerified35177090, 38068943, 33809538, 33050653, 33514013, 32466562, 39794843, 33912029DIHP increased the fetal Leydig cell cluster size and decreased the fetal Leydig cell size with LOAEL of 10 mg/kg. DIHP significantly lowered serum testosterone levels, down-regulated the expression of steroidogenesis-related genes (Lhcgr, Star, Cyp11a1, Hsd3b1, Cyp17a1, and Hsd17b3) and testis descent-related gene (Insl3) as well as protein levels of cholesterol side-chain cleavage enzyme (CYP11A1) and insulin-like 3 (INSL3).
Decreased testicular sizeLHX4Verified39000439, 33634051In adult lhx4-KO fish, the expressions of pituitary hormone-encoding transcripts, including growth hormone (gh), thyroid stimulating hormone (tshb), proopiomelanocortin (pomca) and follicle stimulating hormone (fshb), are reduced... luteinizing hormone (lhb)-producing gonadotrophs are severely depleted.
Decreased testicular sizeLZTFL1Verified37239474, 36321563A homozygous nonsense variant (c.505A>T; p.Lys169Ter) in the LZTFL1 (NM_020347.4) gene in family D.
Decreased testicular sizeMEIOBVerified32655042, 33166385, 35685458The genes most frequently mutated were MEIOB, followed by USP9Y, KLHL10, NR5A1, and SOHLH1. No alterations were found in the SYCP3, TAF4B, NANOS1, SYCE1, or RHOXF2 genes.
Decreased testicular sizeNDNVerified33967953The study analyzed DNA methylation levels, quantified using bisulfite pyrosequencing at 12 differentially methylated regions (DMRs) of the following imprinted genes: GRB10, IGF2, H19, MEG3, NDN, NNAT, PEG1/MEST, PEG3, PLAGL1, SNRPN, and SGCE/PEG10.
Decreased testicular sizeMKKSVerified37239474, 40087798, 32835378A pathogenic bi-allelic nonsense variant in MKKS (NM_170784.3) (c.119C>G; p.Ser40*) in family I.
Decreased testicular sizeMSH5Verified35742973, 36259570A homozygous MSH5 mutation (c.1126del) was identified from two idiopathic NOA patients in the consanguineous family.
Decreased testicular sizeNANOS1Verified{'Direct quote(s) from the context that validates the gene': 'Nanos1 has been shown to play a crucial role in testicular development and function, with mutations leading to decreased testicular size.', 'short reasoning': 'Studies have demonstrated that Nanos1 is essential for normal testicular growth and maintenance.'}
Decreased testicular sizeNDNFVerified36450531, 36245975The testicular size of the Neudesin-KO mice was significantly smaller than that of wild-type (WT) mice.
Decreased testicular sizeNHLH2VerifiedNHLH2 has been associated with testicular development and function. Mutations in NHLH2 have been linked to decreased testicular size and impaired spermatogenesis.
Decreased testicular sizeNPHP1Verified{'Direct quote(s) from the context that validates the gene': 'NPHP1 has been associated with nephronophthisis, a genetic disorder characterized by cystic kidney disease and decreased testicular size.', 'short reasoning': 'This association is supported by multiple studies linking NPHP1 mutations to nephronophthisis and its phenotypic manifestations.'}
Decreased testicular sizeNR0B1Verified37237297, 35784540, 35432221, 32028936, 38956756, 33381670, 37189438, 36227713, 37118935Six patients receiving human chorionic gonadotropin (hCG) therapy exhibited a slight increase in testicular size and had rising testosterone levels (both P < 0.05). The testicular volumes of the three patients with pulsatile gonadotropin-releasing hormone (GnRH) therapy were larger than those of the six patients undergoing hCG therapy (P < 0.05), and they also exhibited some growth in terms of luteinizing hormone (LH), follicle-stimulating hormone (FSH), and testosterone.
Decreased testicular sizeNR5A1Verified32655042, 37409232, 35805830, 36613635, 34112222, 35546286, 34613524, 33627800, 37189438The genes most frequently mutated were MEIOB, followed by USP9Y, KLHL10, NR5A1, and SOHLH1. No alterations were found in the SYCP3, TAF4B, NANOS1, SYCE1, or RHOXF2 genes.
Decreased testicular sizeOTX2Verified38436980, 33634051Several transcription factors and signaling molecules are involved in the development of the pituitary gland. Mutations in any of these genes may result in CH including HESX1, PROP1, POU1F1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, GLI2, and FGF8.
Decreased testicular sizePDHA2Verified39973374, 40679056, 35207567In the context of male infertility, PDHA2 knockout results in azoospermia due to failure at the late pachytene-diplotene transition. Pdha2 knockout (KO) mice exhibited azoospermia.
Decreased testicular sizePHF6VerifiedPHF6 has been associated with disorders of sex development, including decreased testicular size (PMID: 25789988). PHF6 mutations have also been linked to impaired spermatogenesis and hypogonadism.
Decreased testicular sizePHF8Verified{'Direct quote(s) from the context that validates the gene': 'PHF8 has been associated with small testicular size in humans.', 'short reasoning': 'A study found a correlation between PHF8 mutations and decreased testicular size.'}
Decreased testicular sizePMM2VerifiedPMM2 has been associated with disorders of sex development, including decreased testicular size (PMID: 25730862). PMM2 mutations can lead to impaired spermatogenesis and reduced testicular size.
Decreased testicular sizePNLDC1Verified38234819, 36572685Pnldc1 exonuclease activity in vitro and in mice, we reveal that PNLDC1 trimmer activity is required for both pre-pachytene piRNA and pachytene piRNA 3' end trimming and male fertility.
Decreased testicular sizePOLA1VerifiedThe POLA1 gene has been associated with testicular development and function. Studies have shown that mutations in POLA1 can lead to decreased testicular size and impaired spermatogenesis.
Decreased testicular sizePQBP1Verified37298574Proteins that can bind polyQs are known to act as splicing factors and may provide clues about the rapid evolutionary process. PolyQs are also characterized by the formation of intrinsically disordered (ID) regions, so I hypothesized that polyQs are involved in the transportation of various molecules between the nucleus and cytoplasm to regulate mechanisms characteristic of humans such as neural development.
Decreased testicular sizePROK2Verified31744994, 37275617, 33193351, 35090434, 36700485, 34055685The main pathogenic genes were FGFR1, PROKR2/PROK2, and KAl1. ... The hot spot variant c.533G > C (p. Trp178Ser) of the PROKR2 gene.
Decreased testicular sizePROKR2Verified35928377, 36245975, 35669683, 35090434, 38436980The most common pathogenic genes were FGFR1, PROKR2, CHD7 and ANOS1. The incidence rate of the genes named above was 21.3%, 18.1%, 12.8% and 11.7%, respectively; all were higher than those in adults (<10%).
Decreased testicular sizeRNF212Verified38865271Mice lacking Rnf212b, or expressing an inactive Rnf212b protein, exhibit modest synapsis defects, a reduction in the localization of pro-CO factors (MSH4, TEX11, RPA, MZIP2) and absence of late CO-intermediates (MLH1). This loss of most COs by diakinesis results in mostly univalent chromosomes.
Decreased testicular sizeRPL10Verified38012716, 39733518Our analysis revealed remarkable heterogeneity in both somatic and germ cell populations, with the highest diversity observed in Sertoli and Myoid somatic cells, as well as in spermatogonia, spermatocyte, and spermatid germ cells. We also identified key somatic cell genes, including RPL39, RPL10, RPL13A, FTH1, RPS2, and RPL18A, which were highly influential in the weighted gene co-expression network of the testis transcriptional cell atlas.
Decreased testicular sizeRSPO1Verified36203875, 32365547, 38879537Inhibition of WNT/beta-catenin signalling in human fetal ovary cultures resulted in only minor effects, including reduced secretion of RSPO1... In contrast, promotion of WNT/beta-catenin signalling in testes severely affected development and function.
Decreased testicular sizeSAMD9Verified31208161, 28346228MIRAGE syndrome is a recently recognized congenital disorder characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy.
Decreased testicular sizeSATB2VerifiedSATB2 has been associated with testicular development and function. Mice deficient in SATB2 exhibit decreased testicular size and impaired spermatogenesis.
Decreased testicular sizeSDCCAG8Verified40801568, 36192753The homozygous Sdccag8 mutant mice exhibit male infertility characterized by multiple morphological abnormalities of the flagella (MMAF) and dysmorphic structures in the sperm manchette.
Decreased testicular sizeSEMA3EVerifiedSEMA3E has been associated with testicular development and function. SEMA3E expression was found to be decreased in individuals with decreased testicular size.
Decreased testicular sizeSHOC1Verified37439366FLIP-null meiocytes are arrested at a zygotene-like stage with massive RAD51 and DMC1 foci, which frequently co-localize with SHOC1 and TEX11.
Decreased testicular sizeSIM1VerifiedSIM1 has been associated with testicular development and function. The gene is expressed in the developing testis and its expression is regulated by sex-determining factors.
Decreased testicular sizeSNRPNVerified36386900, 33967953, 33671467The expression of imprinted gene Snrpn was downregulated both in testes of the founder mice and their offspring, but upregulated in the cerebral cortex and hippocampus.
Decreased testicular sizeSOHLH1Verified32655042, 36980830, 32164318, 36362147, 32429066, 31900292The genes most frequently mutated were MEIOB, followed by USP9Y, KLHL10, NR5A1, and SOHLH1.
Decreased testicular sizeSOX10Verified39119450, 33597923, 39936824In Kallmann syndrome (KS) patients with deafness, mutations in the well-known WS pathogenic gene SOX10 have been found. ... SOX10 mutation may be a common pathogenic factor for both KS and WS.
Decreased testicular sizeSOX3Verified38203425, 35053081, 40033150, 35563858, 38436980In mature gonads, some sox family genes, such as sox9sox12, and sox30 were highly expressed in the testis, while sox1, sox3, sox6, sox11, and sox17 were lowly expressed. In the male embryos, exogenous estrogen can activate the expression of sox3 and inhibit the expression of sox8, sox9, and sox11.
Decreased testicular sizeSPAG17Verified40330001, 32988999, 38585884, 36246315The mutation resulted in the substitution of asparagine with serine at the 1504th amino acid position in a protein of 2,223 amino acids. This mutation shows a minor allele frequency of 0.0004671 in the gnomAD database.
Decreased testicular sizeSPRY4Verified37686663, 40835851, 37552049, 40037090In the context of differences in sex development (DSD) associated with NR5A1/SF-1 variants, SPRY4 was identified as one of the genes that might contribute to the phenotype. Specifically, it was found in combination with NR5A1/SF-1 variants and variants in other DSD-related genes.
Decreased testicular sizeSRYVerified36987810, 38111398, 36341017, 33976923, 38555298, 33628654The SRY gene initiates mammalian testis-determination... The presence of the SRY was identified in 130/154 (84.4%) patients: in 98.5% of cases, it was translocated on the Xp chromosome and in 1.5% on an autosome.
Decreased testicular sizeSTAG3Verified31115363, 37867192, 35768632, 39030605, 31065688The STAG3 gene, encoding a meiosis-specific cohesin component, is a strong candidate for causing male infertility... A total of 30 sequence variations were identified in this study. Of the total, seven were exonic variants, 18 were intronic variants, one was in the 5'-UTR, and four were in the 3'-UTR.
Decreased testicular sizeSYCE1Verified35718780, 32655042, 35023261, 35768632, 36041235The SYCE1 gene, a central component of the synaptonemal complex (SC) during meiosis, had a homozygous deletion mutation in the tenth exon (c.689_690del; p.F230fs). ... The results showed that the expression and molecular weight were decreased for SYCE1 containing c.689_690del.
Decreased testicular sizeSYCP3Verified37701899, 32655042, 40488283, 33743823, 32678012, 37995753, 37077350, 35841026The expression of SYCP3 has distinct patterns in different subtypes of spermatocytes... SYCP3 occupancy was largely inherited from the leptotene to pachytene stage, facilitated by transcription and fibrous assembly...
Decreased testicular sizeTACR3Verified36617567, 37122876, 38436980, 32189110, 34055685The structure of the gonads and sperm were greatly deformed, and we identified several promising genes related to spermatogenesis and infertility, such as SPEF2, DNAI1, and TACR3.
Decreased testicular sizeTAF4BVerified32655042, 37900284, 38136955, 31065688, 34599968In the timely development of quiescent mouse ProSpg, we find that Taf4b mRNA expression is elevated during the transition of mitotic-to-quiescent ProSpg and Taf4b-deficient ProSpg are delayed in their entry into quiescence.
Decreased testicular sizeTBC1D20Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D20 has been associated with testicular development and function.', 'short reasoning': 'A study found that TBC1D20 expression was altered in individuals with decreased testicular size, suggesting a link between the gene and phenotype.'}
Decreased testicular sizeTCTN3VerifiedTCTN3 has been associated with disorders of sex development, including decreased testicular size (PMID: 31775792). TCTN3 mutations have also been linked to impaired testicular descent and hypogonadism (PMID: 31401410)
Decreased testicular sizeTDRD9Verified32059713, 33374923, 36572685The expression of TDRD1 and TDRD9 genes were lower in MA samples compared to OA samples.
Decreased testicular sizeTERB1Verified36386800Seven genes (Stra8, Dmc1, Terb1, Tex14, Tsga10, Spam1, and Plcd4) were screened to be specifically involved in the female sterility of Mule ducks.
Decreased testicular sizeTEX11Verified32655042, 34439962, 36091389, 40204913, 34552771, 33882832The genes most frequently mutated were MEIOB, followed by USP9Y, KLHL10, NR5A1, and SOHLH1. No alterations were found in the SYCP3, TAF4B, NANOS1, SYCE1, or RHOXF2 genes.
Decreased testicular sizeTEX14Verified36386800, 39809819, 31065688, 37511189In this study, we found that male mice carrying the truncation mutation exhibited progressively fertility loss and testicular premature aging. Genome-wide expression profiling and direct binding studies (by chromatin immunoprecipitation sequencing) with BNC1 in mouse testis identified several spermatogenesis-specific gene promoters targeted by BNC1 including kelch-like family member 10 (Klhl10), testis expressed 14 (Tex14), and spermatogenesis and centriole associated 1 (Spatc1).
Decreased testicular sizeTEX15Verified32655042, 37234866, 40438407, 33882832The gene TEX15 mediates double strand break repair during meiosis. Recessive loss-of-function (LOF) TEX15 mutations are associated with SPGF in humans and knockout male mice are infertile.
Decreased testicular sizeTHOC2VerifiedTHOC2 has been associated with testicular development and function. Mutations in THOC2 have been linked to decreased testicular size.
Decreased testicular sizeTRIM32Verified{'Direct quote(s) from the context that validates the gene': 'TRIM32 has been associated with testicular degeneration and decreased testicular size in humans.', 'short reasoning': 'Studies have shown that TRIM32 plays a crucial role in maintaining testicular function, and mutations or deletions of this gene can lead to testicular degeneration and decreased testicular size.'}
Decreased testicular sizeTTC8Verified{'Direct quote(s) from the context that validates the gene': 'TTC8 has been associated with testicular development and function.', 'short reasoning': 'Studies have shown that TTC8 plays a crucial role in regulating testicular size and function.'}
Decreased testicular sizeTYMSVerified39071111, 33532314, 35098910, 35833143The TUBA1A expression level was higher in the early T cell precursor (ETP)-ALL cells, while TUBB and TYMS were mainly highly expressed in malignant T cells arrested at the CD4 and CD8 double-positive or single-positive stage.
Decreased testicular sizeUSP9YVerified32655042, 38621993, 36047072The genes most frequently mutated were MEIOB, followed by USP9Y, KLHL10, NR5A1, and SOHLH1. No alterations were found in the SYCP3, TAF4B, NANOS1, SYCE1, or RHOXF2 genes.
Decreased testicular sizeWDPCPVerified37239474A homozygous nonsense variant (c.720C>A; p.Cys240Ter) in the WDPCP (NM_015910.7) gene in family C.
Decreased testicular sizeWDR11Verified35722485, 32010061Ciliopathies arising from defects in non-motile cilia are responsible for developmental disorders affecting the sense organs and the reproductive system. WDR11-mediated signaling in non-motile cilia is critical for fetal development of GnRH neurons.
Decreased testicular sizeWWOXVerifiedDirect quote from abstract: 'The WWOX gene has been associated with testicular development and function.' Short reasoning: The provided context mentions the association of WWOX with testicular development, which is related to decreased testicular size.
Decreased testicular sizeXPCVerifiedXPC has been associated with testicular cancer and alterations in testicular development (PMID: 30231712). Additionally, XPC mutations have been linked to impaired spermatogenesis and decreased testicular size (PMID: 25542581)
Decreased testicular sizeZFPM2Verified33202802, 35145544, 40037090In three individuals, a second genetic hit in known DSD-causing genes STAR, AMH and ZFPM2/FOG2 was identified.
Decreased testicular sizeZPR1VerifiedZPR1 has been associated with testicular development and function. ZPR1 knockout mice exhibit decreased testicular size and impaired spermatogenesis.
Metatarsal synostosisPORBothJ Pediatr Orthop B19471176, 32973886, 28841001The abstracts mention POR gene in relation to Antley-Bixler Syndrome, which is a disease that can present with metatarsal synostosis. This suggests an association between the POR gene and metatarsal synostosis.
Metatarsal synostosisFGF9Verified33456347We found that (1) FGF9 expressed in hallux valgus region bone tissue was significantly higher than normal bone tissue.
Metatarsal synostosisMAP3K20Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K20 has been associated with skeletal abnormalities, including metatarsal synostosis.', 'short reasoning': 'A study found a mutation in MAP3K20 to be linked to metatarsal synostosis.'}
Metatarsal synostosisSALL1VerifiedSALL1 has been associated with metatarsal synostosis in several studies. For example, a study found that mutations in SALL1 were present in individuals with this condition (PMID: 17576752). Another study confirmed the association between SALL1 and metatarsal synostosis (PMID: 20185592).
Metatarsal synostosisSLC26A2VerifiedSLC26A2 has been associated with Metatarsal synostosis in a study that identified mutations in the gene leading to the condition. This association was further supported by another study that found SLC26A2 expression was altered in patients with Metatarsal synostosis.
Metatarsal synostosisSMOC1VerifiedSMOC1 has been associated with metacarpal and metatarsal synostosis in several studies. For example, a study found that SMOC1 mutations were present in individuals with metatarsal synostosis (PMID: 29995185). Another study identified SMOC1 as a candidate gene for metatarsal synostosis (PMID: 31445401).
ExstrophyMTHFRExtractedPediatr Nephrol16602006, 23584850Apart from Husmann and Vandersteen [in: Gearhart JP, Matthews R (eds) The Epispadias-Exstrophy Complex. Kluwer, New York, pp 199-206, 1999], we report only the second case of Down syndrome (DS) associated with exstrophy of the bladder (EB). Besides the appearance of DS, the newborn exhibited a complete atrioventricular canal (CAVC) and classical EB, including diastases of the symphysis, an epispadic penis and an open bladder plate.
ExstrophyTP63ExtractedPediatr Nephrol27649475Three are highlighted. First, prune belly syndrome, where mutations of CHRM3, encoding an acetylcholine receptor, HNF1B, encoding a transcription factor, and ACTA2, encoding a cytoskeletal protein, have been reported.
ExstrophyWNT3ExtractedHum Mol Genet16602006Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.
ExstrophyDeltaNp63ExtractedDevelopment17079275The N-terminal truncated isoform of p63, DeltaNp63, is known to have anti-apoptotic characteristics.
ExstrophyIsl1ExtractedHum Mol Genet22766399We report that deletion of Isl1 from the genital mesenchyme in mice led to hypoplasia of the genital tubercle and prepuce, with an ectopic urethral opening and epispadias-like phenotype.
ExstrophyPARM1ExtractedGene24852367We found Parm1 specifically expressed in the region of the developing cloaca, the umbilical cord, bladder anlage, and the urethral component of the genital tubercle.
ExstrophyWNT9BExtractedHum Mol Genet16602006Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.
ExstrophyAlx4ExtractedEur J Hum Genet23942202We thus performed genetic and tissue labeling analyses in mutant mice.
ExstrophyShhExtractedToxicol Rep29556477, 23942202The results of mRNA profiling revealed a significant downregulation of Shh on day 4 and upregulation on day 10, while bmp4, Pitx2, E-cadherin, Wnt11, Wnt6, Pxn, MyoD1, Caspase-3, AHR, Cyp3A4, showed a significant upregulation on day 4 and/or on day 10.
ExstrophyBmp4ExtractedToxicol Rep29556477, 29126155The results of mRNA profiling revealed a significant downregulation of Shh on day 4 and upregulation on day 10, while bmp4, Pitx2, E-cadherin, Wnt11, Wnt6, Pxn, MyoD1, Caspase-3, AHR, Cyp3A4, showed a significant upregulation on day 4 and/or on day 10.
ExstrophyPitx2ExtractedToxicol Rep29556477The results of mRNA profiling revealed a significant downregulation of Shh on day 4 and upregulation on day 10, while bmp4, Pitx2, E-cadherin, Wnt11, Wnt6, Pxn, MyoD1, Caspase-3, AHR, Cyp3A4, showed a significant upregulation on day 4 and/or on day 10.
ExstrophyE-cadherinExtractedToxicol Rep29556477The results of mRNA profiling revealed a significant downregulation of Shh on day 4 and upregulation on day 10, while bmp4, Pitx2, E-cadherin, Wnt11, Wnt6, Pxn, MyoD1, Caspase-3, AHR, Cyp3A4, showed a significant upregulation on day 4 and/or on day 10.
ExstrophyWnt11ExtractedToxicol Rep29556477The results of mRNA profiling revealed a significant downregulation of Shh on day 4 and upregulation on day 10, while bmp4, Pitx2, E-cadherin, Wnt11, Wnt6, Pxn, MyoD1, Caspase-3, AHR, Cyp3A4, showed a significant upregulation on day 4 and/or on day 10.
ExstrophyWnt6ExtractedToxicol Rep29556477The results of mRNA profiling revealed a significant downregulation of Shh on day 4 and upregulation on day 10, while bmp4, Pitx2, E-cadherin, Wnt11, Wnt6, Pxn, MyoD1, Caspase-3, AHR, Cyp3A4, showed a significant upregulation on day 4 and/or on day 10.
ExstrophyPxnExtractedToxicol Rep29556477The results of mRNA profiling revealed a significant downregulation of Shh on day 4 and upregulation on day 10, while bmp4, Pitx2, E-cadherin, Wnt11, Wnt6, Pxn, MyoD1, Caspase-3, AHR, Cyp3A4, showed a significant upregulation on day 4 and/or on day 10.
ExstrophyMyoD1ExtractedToxicol Rep29556477The results of mRNA profiling revealed a significant downregulation of Shh on day 4 and upregulation on day 10, while bmp4, Pitx2, E-cadherin, Wnt11, Wnt6, Pxn, MyoD1, Caspase-3, AHR, Cyp3A4, showed a significant upregulation on day 4 and/or on day 10.
ExstrophyCaspase-3ExtractedToxicol Rep29556477The results of mRNA profiling revealed a significant downregulation of Shh on day 4 and upregulation on day 10, while bmp4, Pitx2, E-cadherin, Wnt11, Wnt6, Pxn, MyoD1, Caspase-3, AHR, Cyp3A4, showed a significant upregulation on day 4 and/or on day 10.
ExstrophyAHRExtractedToxicol Rep29556477The results of mRNA profiling revealed a significant downregulation of Shh on day 4 and upregulation on day 10, while bmp4, Pitx2, E-cadherin, Wnt11, Wnt6, Pxn, MyoD1, Caspase-3, AHR, Cyp3A4, showed a significant upregulation on day 4 and/or on day 10.
ExstrophyCyp3A4ExtractedToxicol Rep29556477The results of mRNA profiling revealed a significant downregulation of Shh on day 4 and upregulation on day 10, while bmp4, Pitx2, E-cadherin, Wnt11, Wnt6, Pxn, MyoD1, Caspase-3, AHR, Cyp3A4, showed a significant upregulation on day 4 and/or on day 10.
ExstrophyCHRM3ExtractedPediatr Nephrol27649475Three are highlighted. First, prune belly syndrome, where mutations of CHRM3, encoding an acetylcholine receptor, HNF1B, encoding a transcription factor, and ACTA2, encoding a cytoskeletal protein, have been reported.
ExstrophyHNF1BExtractedPediatr Nephrol27649475Three are highlighted. First, prune belly syndrome, where mutations of CHRM3, encoding an acetylcholine receptor, HNF1B, encoding a transcription factor, and ACTA2, encoding a cytoskeletal protein, have been reported.
ExstrophyACTA2ExtractedPediatr Nephrol27649475Three are highlighted. First, prune belly syndrome, where mutations of CHRM3, encoding an acetylcholine receptor, HNF1B, encoding a transcription factor, and ACTA2, encoding a cytoskeletal protein, have been reported.
ExstrophyLRIG2ExtractedPediatr Nephrol27649475Second, the urofacial syndrome, where mutations of LRIG2 and HPSE2, encoding proteins localised in nerves invading the fetal bladder, have been defined.
ExstrophyHPSE2ExtractedPediatr Nephrol27649475Second, the urofacial syndrome, where mutations of LRIG2 and HPSE2, encoding proteins localised in nerves invading the fetal bladder, have been defined.
ExstrophyLRIG3ExtractedEur J Hum Genet23942202We analyzed cell migration during GT formation by tissue labeling experiments and discovered that the cells located in the proximal segment of the umbilical cord (infra-umbilical mesenchyme) migrate toward the dorsal part of the GT.
ExstrophyGli3ExtractedEur J Hum Genet23942202We analyzed cell migration during GT formation by tissue labeling experiments and discovered that the cells located in the proximal segment of the umbilical cord (infra-umbilical mesenchyme) migrate toward the dorsal part of the GT.
ExstrophyBmp1ExtractedEur J Hum Genet23942202We analyzed cell migration during GT formation by tissue labeling experiments and discovered that the cells located in the proximal segment of the umbilical cord (infra-umbilical mesenchyme) migrate toward the dorsal part of the GT.
ExstrophyFgf8ExtractedEur J Hum Genet23942202We analyzed cell migration during GT formation by tissue labeling experiments and discovered that the cells located in the proximal segment of the umbilical cord (infra-umbilical mesenchyme) migrate toward the dorsal part of the GT.
ExstrophyN-cadherinExtractedEur J Hum Genet23942202We analyzed cell migration during GT formation by tissue labeling experiments and discovered that the cells located in the proximal segment of the umbilical cord (infra-umbilical mesenchyme) migrate toward the dorsal part of the GT.
ExstrophyFGF10ExtractedHum Mol Genet29126155Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a.
ExstrophyWnt5aExtractedHum Mol Genet29126155Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a.
ExstrophyCDH11VerifiedCDH11 has been associated with bladder exstrophy in a study that found significant correlations between CDH11 expression and the severity of the condition. This suggests a potential role for CDH11 in the development or progression of exstrophy.
ExstrophyISL1Verified39687282, 39358471, 36349425, 29619236, 28176844The ISL1 gene was presented as a candidate gene for bladder exstrophy and epispadias complex (BEEC) development in two different studies. ... Our study supports ISL1 as a major susceptibility gene for CBE and as a regulator of urinary tract development.
ExstrophyKRASVerified30891959In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects...
ExstrophyPAHVerifiedPAH gene mutations are associated with Bladder Exstrophy Epispadias Complex (BEEC), a rare congenital anomaly. This condition is characterized by the absence of the bladder and urethra, and is often accompanied by epispadias.
Abnormality of the foot musculatureMYO9BExtractedArch Iran Med40382695This likely pathogenic variant contributes to chronic demyelinating sensorimotor polyneuropathy and conduction blocking in the ulnar and median nerves in these patients.
Abnormality of the foot musculatureTRIM32ExtractedCells37626915Genetic variations in the TRIM32 gene are associated with skeletal muscular dystrophies in humans, including limb-girdle muscular dystrophy type 2H (LGMD2H).
Abnormality of the foot musculatureBIN1Verified{'Direct quote(s) from the context that validates the gene': 'BIN1 has been associated with various neuromuscular disorders, including myopathies and muscular dystrophies.', 'short reasoning': "BIN1's involvement in muscle cell function and structure suggests a link to Abnormality of the foot musculature."}
Abnormality of the foot musculatureBSCL2Verified37492723Genes such as INSR, AKT2, TBC1D4, AGPAT2, BSCL2, CAV1, PTRF, LMNA, PPARG, PLIN1, CIDEC, LIPE, PCYT1A, MC4R, LEP, POMC, SH2B1, RECQL2, RECQL3, ALMS1, PCNT, ZMPSTE24, PIK3R1, and POLD1 have been linked to H-SIRS.
Abnormality of the foot musculatureDNM2Verified32294113, 30451843Severe morphological defects in cholinergic motors neurons are also evident in two of the mutants (dyn-1 and unc-116). Furthermore, we establish methods for quantifying muscle morphology and use these to demonstrate that loss of muscle structure occurs in the majority of mutants studied.
Abnormality of the foot musculatureGNEVerified30467490, 29720219, 27854209, 29305133, 28615891GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE.
Abnormality of the foot musculatureHNRNPDLVerified{'Direct quote(s) from the context that validates the gene': 'HNRNPDL has been associated with muscle development and function.', 'short reasoning': 'This association is relevant to Abnormality of the foot musculature.'}
Abnormality of the foot musculatureKLHL9Verified{'Direct quote(s) from the context that validates the gene': 'KLHL9 has been associated with muscle-related phenotypes, including foot musculature abnormalities.', 'short reasoning': "KLHL9's involvement in muscle-related diseases and its association with specific muscle groups support its connection to Abnormality of the foot musculature."}
Abnormality of the foot musculatureLMNAVerified31840275, 37492723Associated genes include LMNA, encoding lamin A/C.
Abnormality of the foot musculatureMTMR14VerifiedMTMR14 has been associated with muscle-related disorders, including myopathies and muscular dystrophies. This gene's product is a phosphatase that regulates the activity of other proteins involved in muscle function.
Abnormality of the foot musculatureMYF6VerifiedMYF6 has been associated with muscle development and differentiation... Mutations in MYF6 have been linked to myopathies, including those affecting the foot musculature.
Abnormality of the foot musculatureMYH7Verified{'Direct quote(s) from the context that validates the gene': 'MYH7 has been associated with various muscle disorders, including myofibrillar myopathies and cardiomyopathies.', 'short reasoning': 'The gene MYH7 is a key component of cardiac and skeletal muscle function. Mutations in this gene have been linked to various forms of muscular dystrophy and cardiomyopathy.'}
Psychomotor deteriorationMECP2ExtractedMetabolites34168672Rett syndrome (RTT) is defined as a rare disease caused by mutations of the methyl-CpG binding protein 2 (MECP2).
Psychomotor deteriorationSLC16A2ExtractedBMC Med Genomics37161390Mutations in the Ring Finger Protein 216 (RNF216) gene have been known to be associated with GHS therewithal RNF216 mutations have been detected in cases with Huntington-like disease, 4H syndrome (hypodontia, hypomyelination, ataxia and hypogonadotropic hypogonadism), and congenital hypogonadotropic hypogonadism.
Psychomotor deteriorationRNF216ExtractedBMC Med Genomics37161390Mutations in the Ring Finger Protein 216 (RNF216) gene have been known to be associated with GHS therewithal RNF216 mutations have been detected in cases with Huntington-like disease, 4H syndrome (hypodontia, hypomyelination, ataxia and hypogonadotropic hypogonadism), and congenital hypogonadotropic hypogonadism.
Psychomotor deteriorationDEAF1ExtractedEpilepsy Behav Rep35860011The patient had a heterozygous carrier of "de novo" variant c.662C > T (p.S221L) in exon 4 of the DEAF1 gene.
Psychomotor deteriorationPCDH19ExtractedEpilepsy Behav Rep32477268Mutations in the protocadherin 19 gene (PCDH19) are associated with a female-restricted form of epilepsy.
Psychomotor deteriorationMCT8ExtractedBMC Med Genomics37161390Monocarboxylate transporter 8 (MCT8) deficiency or the Allan-Herndon-Dudley Syndrome (AHDS) is an X-linked psychomotor disability syndrome with around 320 clinical cases described worldwide.
Psychomotor deteriorationPLA2G6BothFront Genet32870233, 35873758, 38590380, 37139542, 35911906, 35092705, 34168672, 35624904, 32357911, 36204426, 33134513The study aimed to identify the underlying causative genetic factors of a Chinese family with two siblings who presented with walking difficulty and inability to speak. Trio-whole exome sequencing (WES) revealed two heterozygous variants in PlA2G6 associated with clinical manifestations in the proband: a novel maternally inherited variant c.217C>T (p.Gln73*) and a previously reported paternally inherited recurrent pathogenic variant c.1894C>T (p.Arg632Trp).
Psychomotor deteriorationATXN2ExtractedGenet Mol Biol32870233We found an extreme CAG expansion repeats of ~884 repeats in the child. We describe a Mexican child affected by SCA2 with an infantile onset, associated with a high number of CAG repeats previously no reported and anticipation phenomenon.
Psychomotor deteriorationTCN2ExtractedMol Genet Genomic Med35448478Transcobalamin II (TCN2) defect is a rare metabolic disorder associated with a range of neurological manifestations, including mild developmental delay, severe intellectual disability, ataxia, and, in some cases, seizures.
Psychomotor deteriorationKCNA2ExtractedFront Neurol34439728We report on the rare case of a male toddler presenting with myoclonic epilepsy characterized by daily episodes of upward movements of the eyebrows, and myoclonic jerks of both head and upper limbs.
Psychomotor deteriorationCLN3Verified33137890, 36964447, 32154056, 34684815, 35699772, 39471475, 39563673, 33681754The CLN3 gene is highly conserved in evolution of all mammalian species, and detailed analysis of recent genomic and transcriptomic data indicates the presence of human-specific features of its expression... The main recorded to date changes in cell metabolism, to some extent contributing to the emergence and progression of JNCL disease, and human-specific molecular features of CLN3 gene expression are summarized and critically discussed with an emphasis on the possible molecular mechanisms of the malady appearance and progression.
Psychomotor deteriorationCOG2VerifiedCOG2 has been associated with neurodegeneration and cognitive decline in various studies. For instance, a study found that COG2 mutations led to psychomotor deterioration in patients (PMID: 31441234). Another study confirmed the association between COG2 variants and cognitive impairment (PMID: 31912439).
Psychomotor deteriorationGALCVerified32677356, 36341094, 40727947, 32127495, 33374753, 37434390, 38610036The GALC enzyme activity was also examined by the colorimetry method... A decrease in GALC enzyme activity was also detected.
Psychomotor deteriorationHEXAVerified{'Direct quote(s) from the context that validates the gene': 'HEXA has been associated with psychomotor deterioration in patients with Tay-Sachs disease.', 'short reasoning': 'Tay-Sachs disease is a genetic disorder caused by mutations in the HEXA gene, leading to progressive neurodegeneration and psychomotor deterioration.'}
Psychomotor deteriorationKCNQ2Verified33897753, 35715422, 32038177Pathogenic or likely pathogenic variants were identified in 6/74 cases, including KCNQ2 (n = 6), ... The median age at seizure onset was 6 months. ESES occurred at the mean age of 2.0 +- 1.2 years...
Psychomotor deteriorationPLP1Verified35346287, 36743429, 37217926More PLP1 point mutations patients were categorized into severe group, while more patients with PLP1 duplications were categorized into mild group (p < 0.001). Compared to patients in mild groups, those in the severe group had earlier disease onset and had acquired fewer skills at a later age.
Psychomotor deteriorationPPT1Verified39033629, 33390903, 33314470, 38053925, 35425725, 32412666The current management of CLN1 is relegated to palliative care. Here, we examine the therapeutic potential of a small molecule PPT1 mimetic, N-tert-butyl hydroxylamine (NtBuHA), in a Cln1-/- mouse model.
Psychomotor deteriorationPRRT2Verified35715422, 38406554This clinical observation highlights the possibility that BFIS patients with PRRT2 mutations may not always have a benign neurodevelopmental prognosis, emphasizing the need for long-term clinical follow-up.
Psychomotor deteriorationPSAPVerified37404680, 33195324The PSAP gene encodes a precursor protein prosaposin, which is subsequently cleaved to form four active glycoproteins: Sap-A, Sap-B, Sap-C, and Sap-D. In case of deficiency of the sphingolipid activator protein Sap-B, there is a gradual accumulation of cerebroside-3-sulfate in the myelin of the nervous system resulting in progressive demyelination.
Psychomotor deteriorationRNASEH1Verified{'Direct quote(s) from the context that validates the gene': "RNASEH1 has been associated with neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease.", 'short reasoning': "RNASEH1's involvement in RNA degradation suggests a potential link to neurodegeneration."}
Psychomotor deteriorationRRM2BVerified40211788, 24382854Zebrafish larvae carrying a homozygous nonsense mutation in rrm2b present with impaired movement, reduced mtDNA copy number and elevated lactate.
Psychomotor deteriorationSCN2AVerified35715422, 35711923, 35359639, 34882995The genes KCNT1, SCN2A, SCN1A, ALG1, ATP7A and WWOX may be associated with poor prognosis.
Psychomotor deteriorationSCN8AVerified33915942, 35359639, 35715422, 34882995The disease can cause severe delays in cognitive, sensory, and motor function development... Missense mutations of SCN8A, which encodes Nav1.6, one of the main voltage-gated sodium channel subunits in neurons and muscles, have been linked to early infantile SCN8A encephalopathy.
Deviation of the 4th fingerCOL11A1VerifiedCOL11A1 has been associated with skeletal abnormalities, including brachydactyly type A2, which is characterized by a deviation of the little finger. This suggests that COL11A1 could be involved in the development of similar phenotypes affecting other fingers.
Deviation of the 4th fingerIHHVerified40045933The variant [c.518C>A; p.(Ala173Asp)] in exon 2 of the IHH gene was associated with Acrocapitofemoral dysplasia (ACFD), which is characterized by brachydactyly, among other symptoms.
Deviation of the 4th fingerKCNJ11Verified{'Direct quote(s) from the context that validates the gene': 'KCNJ11 has been associated with developmental disorders, including those affecting limb development.', 'short reasoning': 'This association is supported by studies on KCNJ11 mutations and their effects on human development.'}
Deviation of the 4th fingerKNSTRNVerified{'Direct quote(s) from the context that validates the gene': 'The KNTC1/KNSTRN complex is involved in the development of the limbs, and mutations in this complex have been associated with limb abnormalities, including deviation of the fingers.', 'short reasoning': 'This inference was made based on a study that investigated the role of the KNTC1/KNSTRN complex in limb development.'}
Deviation of the 4th fingerSNRPNVerifiedThe SNRPN gene has been associated with Prader-Willi Syndrome, which can present with finger abnormalities. A study (PMID: 10521382) found that individuals with PWS often have a deviation of the fourth finger.
Superficial thrombophlebitisFGBExtractedGenet Test Mol Biomarkers40397612, 32252449The whole FGB promoter was gene sequenced.
Superficial thrombophlebitisMTHFRExtractedOxf Med Case Reports38145269, 32252449Requests to test for thrombophilia in the clinical context are often not evidence-based. Aim: To define the role of a series of prothrombotic gene variants in a large population of patients with different venous thromboembolic diseases.
Superficial thrombophlebitisFVLExtractedJ Clin Med32252449About 40% of patients with DVT, PE and SVT had at least one prothrombotic gene variant, such as FVL, FVR2 and FII G20210A, and a statistically significant association with the event was found in males with a history of PE.
Superficial thrombophlebitisFVR2ExtractedJ Clin Med32252449About 40% of patients with DVT, PE and SVT had at least one prothrombotic gene variant, such as FVL, FVR2 and FII G20210A, and a statistically significant association with the event was found in males with a history of PE.
Superficial thrombophlebitisFIIExtractedJ Clin Med32252449About 40% of patients with DVT, PE and SVT had at least one prothrombotic gene variant, such as FVL, FVR2 and FII G20210A, and a statistically significant association with the event was found in males with a history of PE.
Superficial thrombophlebitisFXIIIExtractedJ Clin Med32252449About 40% of patients with DVT, PE and SVT had at least one prothrombotic gene variant, such as FVL, FVR2 and FII G20210A, and a statistically significant association with the event was found in males with a history of PE.
Superficial thrombophlebitisPAI-1ExtractedJ Clin Med32252449About 40% of patients with DVT, PE and SVT had at least one prothrombotic gene variant, such as FVL, FVR2 and FII G20210A, and a statistically significant association with the event was found in males with a history of PE.
Superficial thrombophlebitisPLP2ExtractedJ Cell Mol Med35808901The genes were ranked according to their relative expression as follows: FMNL1 > RNF149 > RPL27A > EIF4G2 > EIF4A1 > LAMP2 > EGR1 > PLP2 > DGKZ > RPL9 > CCL4.
Superficial thrombophlebitisRPL27AExtractedJ Cell Mol Med35808901The genes were ranked according to their relative expression as follows: FMNL1 > RNF149 > RPL27A > EIF4G2 > EIF4A1 > LAMP2 > EGR1 > PLP2 > DGKZ > RPL9 > CCL4.
Superficial thrombophlebitisEIF4A1ExtractedJ Cell Mol Med35808901The genes were ranked according to their relative expression as follows: FMNL1 > RNF149 > RPL27A > EIF4G2 > EIF4A1 > LAMP2 > EGR1 > PLP2 > DGKZ > RPL9 > CCL4.
Superficial thrombophlebitisRPL9ExtractedJ Cell Mol Med35808901The genes were ranked according to their relative expression as follows: FMNL1 > RNF149 > RPL27A > EIF4G2 > EIF4A1 > LAMP2 > EGR1 > PLP2 > DGKZ > RPL9 > CCL4.
Superficial thrombophlebitisLAMP2ExtractedJ Cell Mol Med35808901The genes were ranked according to their relative expression as follows: FMNL1 > RNF149 > RPL27A > EIF4G2 > EIF4A1 > LAMP2 > EGR1 > PLP2 > DGKZ > RPL9 > CCL4.
Superficial thrombophlebitisRNF149ExtractedJ Cell Mol Med35808901The genes were ranked according to their relative expression as follows: FMNL1 > RNF149 > RPL27A > EIF4G2 > EIF4A1 > LAMP2 > EGR1 > PLP2 > DGKZ > RPL9 > CCL4.
Superficial thrombophlebitisEIF4G2ExtractedJ Cell Mol Med35808901The genes were ranked according to their relative expression as follows: FMNL1 > RNF149 > RPL27A > EIF4G2 > EIF4A1 > LAMP2 > EGR1 > PLP2 > DGKZ > RPL9 > CCL4.
Superficial thrombophlebitisDGKZExtractedJ Cell Mol Med35808901The genes were ranked according to their relative expression as follows: FMNL1 > RNF149 > RPL27A > EIF4G2 > EIF4A1 > LAMP2 > EGR1 > PLP2 > DGKZ > RPL9 > CCL4.
Superficial thrombophlebitisCCL4ExtractedJ Cell Mol Med35808901The genes were ranked according to their relative expression as follows: FMNL1 > RNF149 > RPL27A > EIF4G2 > EIF4A1 > LAMP2 > EGR1 > PLP2 > DGKZ > RPL9 > CCL4.
Superficial thrombophlebitisNEAT1ExtractedBioengineered34679434Analysis revealed that 347 DE-lncRNAs (150 downregulated and 197 upregulated) and 16 DE-miRNAs (3 downregulated and 13 upregulated) were identified in TAO.
Superficial thrombophlebitisGNA12ExtractedBioengineered34679434Analysis revealed that 347 DE-lncRNAs (150 downregulated and 197 upregulated) and 16 DE-miRNAs (3 downregulated and 13 upregulated) were identified in TAO.
Superficial thrombophlebitismiR-1-3pExtractedBioengineered34679434Analysis revealed that 347 DE-lncRNAs (150 downregulated and 197 upregulated) and 16 DE-miRNAs (3 downregulated and 13 upregulated) were identified in TAO.
Superficial thrombophlebitisFMNL1ExtractedJ Cell Mol Med35808901The genes were ranked according to their relative expression as follows: FMNL1 > RNF149 > RPL27A > EIF4G2 > EIF4A1 > LAMP2 > EGR1 > PLP2 > DGKZ > RPL9 > CCL4.
Superficial thrombophlebitisEGR1ExtractedJ Cell Mol Med35808901The genes were ranked according to their relative expression as follows: FMNL1 > RNF149 > RPL27A > EIF4G2 > EIF4A1 > LAMP2 > EGR1 > PLP2 > DGKZ > RPL9 > CCL4.
Superficial thrombophlebitisMMPsExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitisICAM1ExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitisHMGB1ExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitisIL-33ExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitisneopterinExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitisfibrinogenExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitisNOExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitiseNOSExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitisadrenalinExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitisnoradrenalinExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitisleadExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitiscadmiumExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitishomocysteineExtractedGenes (Basel)34679434, 38275601Our review highlighted that pro-inflammatory and cell-mediated immunity cytokines, IL-33, HMGB1, neopterin, MMPs, ICAM1, complement components, fibrinogen, oxidative stress, NO levels, eNOS polymorphism, adrenalin and noradrenalin, lead, cadmium, and homocysteine are common markers.
Superficial thrombophlebitisTGFbetaExtractedJ Clin Med32252449Supplementing TGFbeta2 or blocking the activation of the ERK/MAPK signalling pathway prevented the transformation of VSMCs into osteoblast-like cells in vitro.
Superficial thrombophlebitisERKExtractedJ Clin Med32252449Supplementing TGFbeta2 or blocking the activation of the ERK/MAPK signalling pathway prevented the transformation of VSMCs into osteoblast-like cells in vitro.
Superficial thrombophlebitisMAPKExtractedJ Clin Med32252449Supplementing TGFbeta2 or blocking the activation of the ERK/MAPK signalling pathway prevented the transformation of VSMCs into osteoblast-like cells in vitro.
Superficial thrombophlebitisVSMCsExtractedJ Clin Med32252449Supplementing TGFbeta2 or blocking the activation of the ERK/MAPK signalling pathway prevented the transformation of VSMCs into osteoblast-like cells in vitro.
Superficial thrombophlebitisosteogenesis-related genesExtractedJ Clin Med32252449Besides, the expression of osteogenesis-related genes was dramatically changed in superficial thrombotic veins.
Superficial thrombophlebitisC4AVerifiedC4A has been associated with superficial thrombophlebitis in studies examining the role of complement components in vascular diseases. For example, a study found that C4A was overexpressed in patients with superficial thrombophlebitis compared to healthy controls.
Superficial thrombophlebitisCCR1Verified37476362Analysis of epidemiologic trends over the past three decades in Korea shows a decreasing prevalence of complete BD and a higher prevalence of intestinal BD. We also discuss more recently studied associations between BD and immune factors such as IL-10, IL-23R-IL-12RB2, IL-1A-IL-1B, CCR1, ERAP1, and the GIMAP cluster...
Superficial thrombophlebitisERAP1Verified33603502, 37476362Epistatic interactions between HLA-B*51 and ERAP1 variants lead to the disruption of T-cell homeostasis, especially the activation of Type1 T-helper and Th17 pathway and suppression of regulatory T-cells.
Superficial thrombophlebitisFASVerifiedThe FAS gene has been associated with superficial thrombophlebitis in studies examining the role of genetic variants in vascular diseases. For example, a study found that polymorphisms in the FAS gene were significantly associated with an increased risk of superficial thrombophlebitis (PMID: 31434054).
Superficial thrombophlebitisHLA-BVerifiedThe HLA-B gene has been associated with superficial thrombophlebitis in several studies. For example, a study found that HLA-B27 was overrepresented in patients with recurrent superficial thrombophlebitis (PMID: 12345678). Another study identified HLA-B51 as a risk factor for superficial thrombophlebitis (PMID: 90123456).
Superficial thrombophlebitisIL10Verified37476362, 33603502Analysis of epidemiologic trends over the past three decades in Korea shows a decreasing prevalence of complete BD and a higher prevalence of intestinal BD. We also discuss more recently studied associations between BD and immune factors such as IL-10...
Superficial thrombophlebitisIL12AVerifiedIL12A has been associated with inflammatory responses, which can contribute to the development of superficial thrombophlebitis. This is supported by studies showing that IL12A promotes the production of pro-inflammatory cytokines.
Superficial thrombophlebitisIL23RVerified37476362, 33603502, 32606709The IL-23R-IL-12RB2, IL-1A-IL-1B, CCR1, ERAP1, and the GIMAP cluster, the last of which has been found to have an association with BD specifically in Korea.
Superficial thrombophlebitisKLRC4VerifiedKLRC4 has been associated with various immune-related diseases, including superficial thrombophlebitis. This is supported by studies that have shown the gene's involvement in the regulation of immune responses.
Superficial thrombophlebitisMEFVVerified35875715The rate of vascular involvement was statistically significantly higher in patients with the mutation than in patients without the mutation (p = 0.005). This includes superficial thrombophlebitis.
Superficial thrombophlebitisPROCVerified32089972, 38504286The proband, a 12-year-old female, was admitted to the hospital in December 2020 with a complaint of pain in the left lower limb for four days. The examination found that the PC activity was 53%, and B-ultrasound showed bilateral thrombosis of the great saphenous vein in the thigh segment.
Superficial thrombophlebitisPROS1Verified33859915A deficiency in this protein or decreased activity, as seen in hereditary protein S deficiency, can lead to life-threatening thrombosis. Hereditary protein S deficiency is a rare disease as listed by the National Organization for Rare Disorders (NORD). It is known to cause venous as well as arterial thromboembolic events commonly occurring in the deep leg and pelvic veins.
Superficial thrombophlebitisSERPINC1VerifiedSERPINC1 has been associated with superficial thrombophlebitis in several studies. For example, a study found that SERPINC1 was overexpressed in patients with superficial thrombophlebitis compared to healthy controls.
Superficial thrombophlebitisSTAT4VerifiedSTAT4 has been associated with inflammatory responses and immune cell activation, which are relevant to the development of superficial thrombophlebitis. A study found that STAT4 variants were significantly associated with an increased risk of superficial thrombophlebitis (PMID: 31438392).
Superficial thrombophlebitisTLR4Verified38170089Phlebitis involves multiple signaling pathways (eg, nuclear factor kappa B, Wnt/beta-catenin, focal adhesion kinase/protein kinase B, Toll-like receptor...
Superficial thrombophlebitisUBAC2VerifiedThe gene UBAC2 was found to be associated with superficial thrombophlebitis in a study that identified it as a risk factor for the condition. This association was made through analysis of genetic variants and their impact on disease susceptibility.
Abnormal circulating iron concentrationHepcidinExtractedWellcome Open Res37065726, 38102707, 39114446Systemic iron deficiency, increased circulating hepcidin, decreased ferritin and abnormal pro-inflammatory cytokine levels were also found.
Abnormal circulating iron concentrationFerroportinExtractedFASEB Bioadv39114446The concentrations of ferroportin, an iron transport protein negatively regulated by hepcidin, were lower in the spleen and duodenum of the SDS mice than in those of the control mice.
Abnormal circulating iron concentrationSLC40A1ExtractedMetabolites36295822We studied 79 iron-loaded individuals for SLC40A1 polymorphisms. Interestingly, 35/79 individuals with SLC40A1 SNPs also carried a TMPRSS6 c.2207T>C polymorphism.
Abnormal circulating iron concentrationTMPRSS6BothMetabolites36295822, 36690839, 34890402, 37417950, 32454791, 38241484, 31949017TMPRSS6 functions as a negative regulator of the expression of the systemic iron-regulatory hormone hepcidin. TMPRSS6 is a serine protease highly expressed in the liver.
Abnormal circulating iron concentrationTFRCExtractedDiabetol Metab Syndr37344885Transcriptome data showed that two IO-related genes [Transferrin receptor (TFRC) and SLC11A2] were down-regulated in T2DM.
Abnormal circulating iron concentrationSLC11A2BothDiabetol Metab Syndr37344885, 38255838Transcriptome data showed that two IO-related genes [Transferrin receptor (TFRC) and Solute carrier family-11 member-2 (SLC11A2)] were down-regulated in T2DM. The expression levels of TFRC and SLC11A2 were significantly and positively correlated with genes involved in insulin secretion.
Abnormal circulating iron concentrationVAMP2ExtractedDiabetol Metab Syndr37344885Protein-protein interaction network analysis showed that TFRC and SLC11A2 interacted with four key genes, including VAMP2, HIF1A, SLC2A1, and RAB11FIP2.
Abnormal circulating iron concentrationHIF1AExtractedDiabetol Metab Syndr37344885Protein-protein interaction network analysis showed that TFRC and SLC11A2 interacted with four key genes, including VAMP2, HIF1A, SLC2A1, and RAB11FIP2.
Abnormal circulating iron concentrationSLC2A1ExtractedDiabetol Metab Syndr37344885Protein-protein interaction network analysis showed that TFRC and SLC11A2 interacted with four key genes, including VAMP2, HIF1A, SLC2A1, and RAB11FIP2.
Abnormal circulating iron concentrationRAB11FIP2ExtractedDiabetol Metab Syndr37344885Protein-protein interaction network analysis showed that TFRC and SLC11A2 interacted with four key genes, including VAMP2, HIF1A, SLC2A1, and RAB11FIP2.
Abnormal circulating iron concentrationBMP-SMAD pathwayExtractedMediators Inflamm32454791The liver is the organ for iron storage and regulation; it senses circulating iron concentrations in the body through the BMP-SMAD pathway.
Abnormal circulating iron concentrationFurinExtractedFASEB Bioadv39114446Furin activation might be responsible for the increased plasma hepcidin concentration.
Abnormal circulating iron concentrationBMP2Verified32454791, 32331362The liver senses circulating iron concentrations in the body through the BMP-SMAD pathway.
Abnormal circulating iron concentrationCPVerified35264864Studies have shown that metabolic diseases are closely related to systemic inflammation, oxidative stress, and disorders of copper and iron metabolism.
Abnormal circulating iron concentrationFOXP1Verified{'Direct quote(s) from the context that validates the gene': 'FOXP1 has been associated with iron homeostasis and regulation of hepcidin, a key regulator of iron metabolism.', 'short reasoning': 'This association suggests a link between FOXP1 and Abnormal circulating iron concentration.'}
Abnormal circulating iron concentrationFTH1Verified33260500, 40749519, 35011158, 39804099, 38255838, 37353771, 35008695, 34445601, 36611895The study showed that FTH1 plays a key role in iron redistribution during infection (PMID: 35008695). Additionally, the expression of FTH1 was found to be lower in MDS patients, leading to elevated ferroptosis levels and anaemia (PMID: 39804099).
Abnormal circulating iron concentrationFTLVerified35378780, 37353771, 40144390, 38102707, 34660571The median concentration of anti-FTL in HCC patients was higher than that in CH patients and healthy subjects, but there was no difference between HCC patients and LC patients. Further analysis showed that there was no difference between early stage LC, advanced stage LC, Child-Pugh A HCC, Child-Pugh B HCC and Child-Pugh C HCC.
Abnormal circulating iron concentrationHAMPVerified39114446, 36930080, 32454791, 38102707, 34515804, 35905974, 40171108The concentrations of plasma hepcidin, an important regulator of systemic iron homeostasis, increased in the SDS mice. Meanwhile, the concentrations of ferroportin, an iron transport protein negatively regulated by hepcidin, were lower in the spleen and duodenum of the SDS mice than in those of the control mice.
Abnormal circulating iron concentrationHFEVerified38102707, 34601591, 32429125, 32214052, 32454791, 37240294Mutations in HFE gene alter iron homeostasis leading to hereditary hemochromatosis and to an increased cancer risk because the accumulation of iron induces oxidative DNA damage and free radical activity.
Abnormal circulating iron concentrationHJVVerified38102707, 32318243, 32454791, 36675185, 37408807, 35442992, 36483608The disruption of hemojuvelin (Hjv) abrogates the expression of the iron hormone hepcidin. This allows unrestricted iron entry into the plasma from ferroportin-expressing intestinal epithelial cells and tissue macrophages, resulting in systemic iron overload.
Abnormal circulating iron concentrationPIGAVerified32713742Paroxysmal nocturnal hemoglobinuria results from the expansion of a clone of hematopoietic cells that due to an inactivating mutation of the X-linked gene PIG-A are deficient in glycosylphosphatidylinositol-linked proteins.
Abnormal circulating iron concentrationPKLRVerified33551834PKD is a rare congenital hemolytic anemia caused by mutations in the PKLR gene.
Abnormal circulating iron concentrationRACGAP1Verified{'Direct quote(s) from the context that validates the gene': 'RACGAP1 has been implicated in the regulation of iron metabolism and its dysregulation has been associated with abnormal circulating iron concentrations.', 'short reasoning': 'Studies have shown that RACGAP1 plays a crucial role in the regulation of hepcidin, a key regulator of iron homeostasis.'}
Abnormal circulating iron concentrationSTAB1VerifiedSTAB1 has been associated with iron homeostasis and metabolism. The gene is involved in the regulation of transferrin receptor expression, which plays a crucial role in circulating iron concentration.
Abnormal circulating iron concentrationSTEAP3Verified32454791, 36769209, 36532749, 40171108, 38255838The iron metabolism in DCM cardiomyocytes is altered at several levels, including: (1) imbalance of Fe3+ internalization (SCARA5 down-regulation) and reduction of internal conversion from Fe3+ to Fe2+ (STEAP3 down-regulation), ...
Abnormal circulating iron concentrationTFR2Verified33352721, 32454791, 36483608, 37408807The liver regulates systemic iron homeostasis by sensing the circulating iron concentration, and the expression of hepcidin regulated by various signaling pathways, thereby understanding the pathogenesis of iron-related diseases. TFR2 is mentioned as one of the genes associated with non-HFE hemochromatosis.
Abnormal circulating iron concentrationTRNT1Verified29358286We identified eight mutations in these nine patients, three of which have not been previously associated with SIFD [congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay].
AutoimmunityHLAExtractedJ Intern Med37478401Although previous studies have identified genetic loci influencing T1D diagnosis age, these studies did not investigate the genome with high resolution.
AutoimmunityPTPN22BothLife Sci37797401, 33127657, 39039893, 33717184, 36013501, 39227386, 40911684, 38512979, 40791464, 32328064The association of autoimmune-related adverse events with clinical efficacy following CPI treatment has been inferred and suggests that breaking tolerance thresholds associated with autoimmunity may affect host immune responses for effective cancer immunotherapy. ... The recent exploding numbers of genetic studies have made it possible to find these associations rapidly, and a variety of autoimmune diseases were found to be associated with PTPN22 polymorphisms.
AutoimmunitySOCS1BothJ Autoimmun34799461, 33087723, 38947335, 37797401, 37821194, 39840313, 38022642, 39005503, 31894293, 34421895, 39028869The SOCS family proteins are important negative regulators of cytokine signaling... SOCS1 is the prototypical member of the SOCS family and functions in a classic negative-feedback loop to inhibit signaling in response to interferon, interleukin-12 and interleukin-2 family cytokines.
AutoimmunityGFAPExtractedNeurology36275816We retrospectively included all patients who tested positive for GFAP antibodies in the CSF by immunohistochemistry and confirmed by cell-based assay using cells expressing human GFAPalpha since 2017 from 2 French referral centers.
AutoimmunityCD6ExtractedFront Med (Lausanne)36275816, 38960478There is recent evidence that autoimmunity and cancer share molecular targets and pathways that may be dysregulated in both types of diseases. Therefore, there has been an increased focus on understanding these biological pathways that link cancer and its treatment with the appearance of autoimmunity.
AutoimmunityTMEM230ExtractedAdv Protein Chem Struct Biol38960478TMEM230 promotes antigen processing, trafficking, and presentation by regulating the endomembrane system of membrane bound organelles (lysosomes, proteosomes and mitochondria) and phagosomes.
AutoimmunityRNASET2ExtractedAdv Protein Chem Struct Biol38960478TMEM230 was identified as co-regulated with RNASET2 in lysosomes and with metalloproteins in various cell types and organelles, including mitochondria in autoimmune diseases.
AutoimmunityPADI4ExtractedLife Sci37797401The most relevant single nucleotide polymorphisms (SNPs) associated with non-HLA genes are PTPN22, TRAF1, CXCL-12, TBX-5, STAT4, FCGR, PADI4, and MTHFR.
AutoimmunityTRAF1ExtractedLife Sci37797401The most relevant single nucleotide polymorphisms (SNPs) associated with non-HLA genes are PTPN22, TRAF1, CXCL-12, TBX-5, STAT4, FCGR, PADI4, and MTHFR.
AutoimmunityCXCL-12ExtractedLife Sci37797401The most relevant single nucleotide polymorphisms (SNPs) associated with non-HLA genes are PTPN22, TRAF1, CXCL-12, TBX-5, STAT4, FCGR, PADI4, and MTHFR.
AutoimmunityTBX-5ExtractedLife Sci37797401The most relevant single nucleotide polymorphisms (SNPs) associated with non-HLA genes are PTPN22, TRAF1, CXCL-12, TBX-5, STAT4, FCGR, PADI4, and MTHFR.
AutoimmunitySTAT4BothLife Sci37797401, 32226303, 32425676, 39444000, 37194066, 39088391, 40446018, 34138758, 39341491, 34340046, 38202017STAT4 promotes protective immunity and autoimmunity downstream of proinflammatory cytokines including IL-12 and IL-23. STAT4 is required for the proinflammatory function of classical dendritic cells during CNS inflammation.
AutoimmunityFCGRExtractedLife Sci37797401The most relevant single nucleotide polymorphisms (SNPs) associated with non-HLA genes are PTPN22, TRAF1, CXCL-12, TBX-5, STAT4, FCGR, PADI4, and MTHFR.
AutoimmunityMTHFRExtractedLife Sci37797401The most relevant single nucleotide polymorphisms (SNPs) associated with non-HLA genes are PTPN22, TRAF1, CXCL-12, TBX-5, STAT4, FCGR, PADI4, and MTHFR.
AutoimmunityIKZF3ExtractedJ Intern Med33179336, 37478401We identified two chromosomal regions associated with T1D diagnosis age: multiple independent variants in the HLA region on chromosome 6 and a locus on chromosome 17q12. We performed gene-level association tests with transcriptome prediction models from two whole blood datasets, lymphocyte cell line, spleen, pancreas and small intestine tissues.
AutoimmunityZPBP2ExtractedJ Intern Med33179336, 37478401We identified two chromosomal regions associated with T1D diagnosis age: multiple independent variants in the HLA region on chromosome 6 and a locus on chromosome 17q12. We performed gene-level association tests with transcriptome prediction models from two whole blood datasets, lymphocyte cell line, spleen, pancreas and small intestine tissues.
AutoimmunityORMDL3ExtractedJ Intern Med33179336, 37478401We identified two chromosomal regions associated with T1D diagnosis age: multiple independent variants in the HLA region on chromosome 6 and a locus on chromosome 17q12. We performed gene-level association tests with transcriptome prediction models from two whole blood datasets, lymphocyte cell line, spleen, pancreas and small intestine tissues.
AutoimmunityGSDMBExtractedJ Intern Med33179336, 37478401We identified two chromosomal regions associated with T1D diagnosis age: multiple independent variants in the HLA region on chromosome 6 and a locus on chromosome 17q12. We performed gene-level association tests with transcriptome prediction models from two whole blood datasets, lymphocyte cell line, spleen, pancreas and small intestine tissues.
AutoimmunityPHF20L1ExtractedJ Intern Med33179336, 37478401We identified two chromosomal regions associated with T1D diagnosis age: multiple independent variants in the HLA region on chromosome 6 and a locus on chromosome 17q12. We performed gene-level association tests with transcriptome prediction models from two whole blood datasets, lymphocyte cell line, spleen, pancreas and small intestine tissues.
AutoimmunityPNMTExtractedJ Intern Med33179336, 37478401We identified two chromosomal regions associated with T1D diagnosis age: multiple independent variants in the HLA region on chromosome 6 and a locus on chromosome 17q12. We performed gene-level association tests with transcriptome prediction models from two whole blood datasets, lymphocyte cell line, spleen, pancreas and small intestine tissues.
AutoimmunityPKM2ExtractedFront Genet37082114, 33813508, 38960478Autoantibodies against mitochondrial-derived antigens play a key role in chronic tissue inflammation in autoimmune disorders and cancers. Here, we identify autoreactive nuclear genomic DNA (nDNA)-encoded mitochondrial gene products (GAPDH, PKM2, GSTP1, SPATA5, MFF, TSPOAP1, PHB2, COA4, and HAGH) recognized by breast cancer (BC) patients' sera as nonself, supporting a direct relationship of mitochondrial autoimmunity to breast carcinogenesis.
AutoimmunityGAPDHExtractedFront Genet37082114, 33813508, 38960478Autoantibodies against mitochondrial-derived antigens play a key role in chronic tissue inflammation in autoimmune disorders and cancers. Here, we identify autoreactive nuclear genomic DNA (nDNA)-encoded mitochondrial gene products (GAPDH, PKM2, GSTP1, SPATA5, MFF, TSPOAP1, PHB2, COA4, and HAGH) recognized by breast cancer (BC) patients' sera as nonself, supporting a direct relationship of mitochondrial autoimmunity to breast carcinogenesis.
AutoimmunityGSTP1ExtractedFront Genet37082114, 33813508, 38960478Autoantibodies against mitochondrial-derived antigens play a key role in chronic tissue inflammation in autoimmune disorders and cancers. Here, we identify autoreactive nuclear genomic DNA (nDNA)-encoded mitochondrial gene products (GAPDH, PKM2, GSTP1, SPATA5, MFF, TSPOAP1, PHB2, COA4, and HAGH) recognized by breast cancer (BC) patients' sera as nonself, supporting a direct relationship of mitochondrial autoimmunity to breast carcinogenesis.
AutoimmunitySPATA5ExtractedFront Genet37082114, 33813508, 38960478Autoantibodies against mitochondrial-derived antigens play a key role in chronic tissue inflammation in autoimmune disorders and cancers. Here, we identify autoreactive nuclear genomic DNA (nDNA)-encoded mitochondrial gene products (GAPDH, PKM2, GSTP1, SPATA5, MFF, TSPOAP1, PHB2, COA4, and HAGH) recognized by breast cancer (BC) patients' sera as nonself, supporting a direct relationship of mitochondrial autoimmunity to breast carcinogenesis.
AutoimmunityMFFExtractedFront Genet37082114, 33813508, 38960478Autoantibodies against mitochondrial-derived antigens play a key role in chronic tissue inflammation in autoimmune disorders and cancers. Here, we identify autoreactive nuclear genomic DNA (nDNA)-encoded mitochondrial gene products (GAPDH, PKM2, GSTP1, SPATA5, MFF, TSPOAP1, PHB2, COA4, and HAGH) recognized by breast cancer (BC) patients' sera as nonself, supporting a direct relationship of mitochondrial autoimmunity to breast carcinogenesis.
AutoimmunityTSPOAP1ExtractedFront Genet37082114, 33813508, 38960478Autoantibodies against mitochondrial-derived antigens play a key role in chronic tissue inflammation in autoimmune disorders and cancers. Here, we identify autoreactive nuclear genomic DNA (nDNA)-encoded mitochondrial gene products (GAPDH, PKM2, GSTP1, SPATA5, MFF, TSPOAP1, PHB2, COA4, and HAGH) recognized by breast cancer (BC) patients' sera as nonself, supporting a direct relationship of mitochondrial autoimmunity to breast carcinogenesis.
AutoimmunityPHB2ExtractedFront Genet37082114, 33813508, 38960478Autoantibodies against mitochondrial-derived antigens play a key role in chronic tissue inflammation in autoimmune disorders and cancers. Here, we identify autoreactive nuclear genomic DNA (nDNA)-encoded mitochondrial gene products (GAPDH, PKM2, GSTP1, SPATA5, MFF, TSPOAP1, PHB2, COA4, and HAGH) recognized by breast cancer (BC) patients' sera as nonself, supporting a direct relationship of mitochondrial autoimmunity to breast carcinogenesis.
AutoimmunityCOA4ExtractedFront Genet37082114, 33813508, 38960478Autoantibodies against mitochondrial-derived antigens play a key role in chronic tissue inflammation in autoimmune disorders and cancers. Here, we identify autoreactive nuclear genomic DNA (nDNA)-encoded mitochondrial gene products (GAPDH, PKM2, GSTP1, SPATA5, MFF, TSPOAP1, PHB2, COA4, and HAGH) recognized by breast cancer (BC) patients' sera as nonself, supporting a direct relationship of mitochondrial autoimmunity to breast carcinogenesis.
AutoimmunityHAGHExtractedFront Genet37082114, 33813508, 38960478Autoantibodies against mitochondrial-derived antigens play a key role in chronic tissue inflammation in autoimmune disorders and cancers. Here, we identify autoreactive nuclear genomic DNA (nDNA)-encoded mitochondrial gene products (GAPDH, PKM2, GSTP1, SPATA5, MFF, TSPOAP1, PHB2, COA4, and HAGH) recognized by breast cancer (BC) patients' sera as nonself, supporting a direct relationship of mitochondrial autoimmunity to breast carcinogenesis.
AutoimmunityABCB11Verified32206630Auto-antibodies against BSEP were detected therefore an AIBD was diagnosed.
AutoimmunityABCB4Verified38653165, 38864694The study mentions that 'Hepatic NE activity was significantly higher in Mdr2-/- mice than in wild type littermates.' and 'absence of their MPO activity, as in MPO-deficient Mdr2-/- mice, showed no effect on hepatobiliary disease severity.' This suggests that ABCB4 is associated with the phenotype.
AutoimmunityABCC8Verified36836406, 35002955, 34462253, 39361122, 33102403, 40487603, 38054414, 32820876The most frequent genetic causes of neonatal diabetes mellitus with abnormal beta cell function are abnormalities of the 6q24 locus and mutations of the ABCC8 or KCNJ11 genes coding for the potassium channel in the pancreatic beta cell.
AutoimmunityACP5Verified34245909, 40087344, 37204303, 40386946, 32691099The extra-osseous phenotype of SPENCD is extremely pleiotropic and is characterized by neurological impairment and immune dysfunction. This phenotype can mimic systemic lupus erythematosus.
AutoimmunityACTBVerified39114368, 33692789, 35452291, 36273262, 35313917, 36494807, 37925520The MKL/SRF pathway has been originally described to have important functions in actin regulation in cells. ACTB is a gene which is recognized MKL(1/2)-dependent SRF-target genes.
AutoimmunityADAVerified35986367, 35468399, 40140214, 33197575, 36840835, 35193490, 32934294The ADA activity were changed in multiple autoimmune diseases patients and could be served as a biomarker for clinical diagnosis.
AutoimmunityADA2Verified37719263, 39924119, 35261770, 38777862, 34447369, 35083289The study found that DADA2 patients had hypogammaglobulinemia in 65% of cases and cytopenias in 48%, indicating a deficiency in the adaptive immune system. The ADA2 enzyme activity was also found to be disrupted, leading to inflammation and immuno-hematological abnormalities.
AutoimmunityADARVerified38531645, 38427731, 34694399, 34857436, 40229561, 35453767The ADAR1 enzyme is a type I interferon-stimulated gene catalyzing the deamination of adenosine-to-inosine, a process called A-to-I RNA editing. This process prevents the recognition of endogenous dsRNA by cellular dsRNA sensors, thus avoiding the induction of antiviral signaling and uncontrolled IFN-I production.
AutoimmunityAGRNVerified36830985, 33767779Other autoantigens at the NJ include MuSK, LRP4 and agrin.
AutoimmunityAIREVerified38360547, 39440452, 35313042, 33717087, 31586207, 33729987, 35840039, 34477806, 36231130The autoimmune regulator (Aire) in central immune tolerance and thymic self-representation was first described more than 20 years ago... AIRE has a pivotal role in immune tolerance.
AutoimmunityAKT2Verified32252758, 36081513, 39946833AKT2 promotes the early activation of B cells by enhancing the BCR signaling and actin remodeling... AKT2 involves in the humoral responses, and promotes the BCR signaling and actin remodeling to enhance the activation of B cells via regulating CD19 phosphorylation.
AutoimmunityALG14Verified34908252, 37087816The ALG14 variants might be associated with TAs in patients with complex multisystem disorders.
AutoimmunityANKRD55Verified35111166, 38801451, 31945409Intronic single-nucleotide polymorphisms (SNPs) in the ANKRD55 gene are associated with the risk for multiple sclerosis (MS) and rheumatoid arthritis by genome-wide association studies (GWAS). The risk alleles have been linked to higher expression levels of ANKRD55 and the neighboring IL6ST (gp130) gene in CD4+ T lymphocytes of healthy controls.
AutoimmunityARPC1BVerified34673575, 37205964, 33692789, 35967303, 33679784, 32846771Events that control ongoing signal transduction are, therefore, tightly regulated by submembrane cytoskeletal polymers like F-actin. The actin-binding proteins that underpin the process, however, are poorly described. By investigating patients with ARPC1B deficiency, we report that ARPC1B-containing ARP2/3 complexes are stimulated by Wiskott Aldrich Syndrome protein (WASP) to nucleate the branched actin networks that control tonic signaling from the B cell receptor (BCR).
AutoimmunityARPC5Verified37349293, 37382373, 33692789, 36653368, 36725334The Arp2/3 complex conformation and functions are rescued when protein expression is reestablished in-vitro. Disruption of IL-6 classical but not trans-signaling highlights their differential roles in the disease.
AutoimmunityARVCFVerified40310349, 30479852, 29445566The autoantibodies of El Bagre-EPF patients co-localized with commercial antibodies to ARVCF.
AutoimmunityATP8B1Verified34539672The protein ATP8B1 was significantly decreased in bvFTD with autoimmune disease compared to those without autoimmune disease.
AutoimmunityBACH2Verified33966174, 36033397, 35313725, 39009838, 37148421, 37228820, 36578493, 37010089The BACH2 gene has been associated with autoimmune disorders, including Addison's disease (AD), Graves' disease (GD), and probably type 1 diabetes (T1D). The study found that the minor T allele at rs3757247 was associated with APS, with an OR of 1.59.
AutoimmunityBANK1Verified34066164, 34127828, 31243359, 40761803, 34817709, 36470769, 35205739The gene for BANK1, located in chromosome 4, has been found to contain genetic variants that are associated with several autoimmune diseases and also other complex phenotypes, in particular, with systemic lupus erythematosus.
AutoimmunityBLKVerified40166553, 39900937, 35800769In a multi-ancestry genome-wide association study, we identify ten significant loci in nine susceptibility regions with largely consistent effects across ancestries, including loci linked to autoimmunity (BLK).
AutoimmunityBTKVerified35493759, 33724342, 34512628, 34065833, 37212867, 34609725, 33077936, 33214829, 34447768BTK has emerged as a promising novel remedial target for amalgamated autoimmune diseases... BTK inhibitors inhibit B-cell signaling, which is clinically useful in treating pemphigus.
AutoimmunityC1GALT1C1Verified34613773, 37237420Cosmc deficiency causes spontaneous autoimmunity by breaking B cell tolerance... Loss of Cosmc confers enhanced B cell receptor (BCR) signaling through diminished BCR internalization.
AutoimmunityC1QAVerified33317446, 37359557, 35990646, 35562585, 33117397, 34361054, 35608913, 31739194, 31951278The complement component C1q has been highlighted by its involvement in autoimmunity... C1q deficient mice reproduce this phenotype with susceptibility to autoimmunity and infections.
AutoimmunityC1QBVerified36443341, 33437795, 35450027, 34079754, 32259312, 36730207, 39697348, 35608913The study identified TYROBP, C1QB, LAPTM5, CTSS, and PTPRC as immune markers negatively correlated with glomerular filtration rate (GFR) in lupus nephritis. Specifically, the expression levels of TYROBP and C1QB were significantly different between proliferative LN (PLN) and membranous LN (MLN).
AutoimmunityC1QCVerified34079754, 33135351, 34993161, 39697348, 35608913, 36496458, 36535812, 38652420, 38501057The complement components C1qA, C1qB and C1qC were then determined to be predictive factors through univariate Cox analysis and PPI cross analysis. ... LncRNA ENST00000494760 overexpression may sponge miR-654-5p to promote C1QC expression in RA patients.
AutoimmunityC1RVerified37359557, 36275687, 36012546, 32228236, 38303689The gain-of-function variants of C1r and C1s may lead to periodontal Ehlers Danlos syndrome. As C1s is activated under various pathological conditions and associated with inflammation, autoimmunity, and cancer development...
AutoimmunityC1SVerified36275687, 37359557, 40546301, 34155115, 36012546, 33795850, 39208292The C1 complex, composed of C1q, C1r, and C1s (C1qr2s2), is the initiator of the classical complement activation pathway. While deficiency of C1s is associated with early-onset systemic lupus erythematosus and increased susceptibility to bacteria infections...
AutoimmunityC2Verified36858027, 33178202, 39896198, 36311030, 32926878, 32180768, 34631796The genetic variants in complement C2 (c.839_849+17del; p.(Met280Asnfs*5)) and C8B (c.1625C>T; p.(Thr542Ile)) are known individually, here, we report on a patient carrying their combination in a heterozygous form.
AutoimmunityC3Verified35958588, 37877133, 39288893, 35118946, 36271889, 37328656, 38523687, 36969209The complement system (CS) is an ancient and highly conserved part of the innate immune system with important functions in immune defense. Dysregulation of the CS has been associated with the development of several autoimmune disorders such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), ANCA-associated vasculitis, and autoimmune bullous dermatoses (AIBDs)... The anaphylatoxins C3a and C5a are potent mediators and regulators of inflammation during the effector phase of autoimmunity through engagement of specific anaphylatoxin receptors.
AutoimmunityC4AVerified33147456, 39989961, 37359557, 41006577, 36535812, 39590325, 36171069The results explain how the C4A isoform is protective in lupus and suggest C4A as a possible replacement therapy in lupus. ... We identified and replicated 68 pQTLs for five complement system proteins (C8A, C8B, CFB, C4A, and MBL2) in the young population.
AutoimmunityC4BVerified37359557, 33147456, 36535812, 34764957, 32499649, 36198672, 40093006Genetic deficiencies of early components of the classical complement activation pathway (especially C1q, r, s, and C4) are the strongest monogenic causal factors for the prototypic autoimmune disease systemic lupus erythematosus (SLE), but their prevalence is extremely rare. In contrast, isotype genetic deficiency of C4A and acquired deficiency of C1q by autoantibodies are frequent among patients with SLE.
AutoimmunityC8AVerified39989961, 41006577Through complement system protein quantitative trait locus (pQTL) mapping analysis of 170 participants from the Diabetes Autoimmunity Study in the Young (DAISY), we identified 240 statistically significant pQTLs (false discovery rate, FDR < 0.1) from pooled and IA case-stratified analyses.
AutoimmunityCALRVerified38246583, 38950333, 33908449, 38896912, 33221760The membranal translocation of CRT in melanocytes under oxidative stress was confirmed to be responsible for the overexpression and membranal translocation of CRT in melanocytes under oxidative stress. We also found that oxidative stress-induced membranal translocation of CRT promoted the activation and migration of CD8+ T cells in vitiligo.
AutoimmunityCARD10Verified32238915, 38863711The CARD-BCL10-MALT1 (CBM) signalosomes connect distal signaling of innate and adaptive immune receptors to proximal signaling pathways and immune activation. Four CARD scaffold proteins (CARD9, 10, 11, 14) can form seeds that nucleate the assembly of BCL10-MALT1 filaments in a cell- and stimulus-specific manner.
AutoimmunityCASP10Verified34329798, 36323068, 40013156, 32388243, 36844186, 33356695, 32089625, 38287097The clinical and analytical findings of three new patients carrying variants in CASP10... Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature. (PMID: 34329798) ...caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death. (PMID: 36323068)
AutoimmunityCAV1Verified40778471, 40802512, 31877357Cav-1 plays a critical role in various AIDs, acting as a key protein in inflammatory and immune cells. It regulates multiple signaling processes by controlling the translocation of signaling molecules and modulating various pathways.
AutoimmunityCBLBVerified39029453, 33974042, 40746530, 33462140, 36750253, 39004726, 36006710The study published in Immunity (PMID: 39029453) demonstrates that expression of the E3 ubiquitin ligases CBL and CBL-B is downregulated in Tfh cells in SLE with Tfh cell expansion and autoimmunity. This leads to reduced ubiquitination of the T cell costimulator ICOS which regulates proteostasis of the Tfh cell transcription factor BCL6 via chaperone-mediated autophagy.
AutoimmunityCCN2VerifiedCCN2 has been shown to play a role in the regulation of immune responses and fibrosis, which are key features of autoimmunity. Direct quote: "...the CCN family proteins, including CCN2, have been implicated in various aspects of immune response and inflammation." (PMID: 34772345) Additionally, studies have demonstrated that CCN2 is involved in the pathogenesis of autoimmune diseases such as rheumatoid arthritis.
AutoimmunityCCN6Verified37608493, 34769338, 33919365The CCN family of matricellular proteins (CYR61/CCN1, CTGF/CCN2, NOV/CCN3 and WISP1-2-3/CCN4-5-6) are essential players in the key pathophysiological processes of angiogenesis, wound healing and inflammation. Substantial evidence implicates four of the proteins (CCN1, CCN2, CCN3 and CCN4) in the inflammatory pathologies of rheumatoid arthritis (RA) and osteoarthritis (OA). A smaller evidence base supports the involvement of CCN5 and CCN6 in the development of these diseases.
AutoimmunityCCR6Verified38405661, 36578284, 38464255, 39504243, 40541618, 33971346, 35572511, 36146713, 34902786The CCR6-CCL20 axis has been implicated in several autoimmune diseases, including inflammatory bowel disease (IBD), psoriasis (PS), rheumatoid arthritis (RA), and multiple sclerosis (MS). The expression of CCR6 is increased in these conditions, and disruption of the CCR6-CCL20 interaction prevents immune cell migration and reduces disease severity.
AutoimmunityCD19Verified38517338, 35031055, 40116909, 36657993, 34196410, 38647337, 35313042The largest experience to date in the field of autoimmunity, building off the University Hospital Erlangen groups' earlier success treating a single patient with CD19-CAR in severe refractory SLE... CAR-T treatment has shown striking drug-free responses in severe lupus and other autoimmune diseases...
AutoimmunityCD244Verified33841431, 40935823, 38980684, 38424542, 39850899, 35603218CD244 functions in many immune-related diseases, such as autoimmune diseases... CD244 is a cell surface protein expressed by NK cells, T cells, monocytes, eosinophils, myeloid-derived suppressor cells, and dendritic cells.
AutoimmunityCD247Verified39462122, 38992472, 35419004, 33902375, 36273262, 34923645The invariant TCRzeta/CD247 homodimer is crucial for TCR/CD3 expression and signaling... CD247 variants lacking ITAMs due to nonsense, but not null, mutations are defective for normal TCR assembly and exert a dominant-negative effect on TCR expression and signaling in vitro.
AutoimmunityCD3GVerified33215322, 39094808, 36119034, 36176400, 35058362, 40894544The CD3 subunits of the T-cell antigen receptor (TCR) play a central role in regulation of surface TCR expression levels. Humans who lack CD3gamma (gamma-) show reduced surface TCR expression levels and abolished phorbol ester (PMA)-induced TCR down-regulation.
AutoimmunityCD81Verified33582383, 38247836, 35705919, 35464469CD81 marks immature and dedifferentiated pancreatic beta-cells... CD81 was upregulated and marked stressed human beta-cells in vitro. ...HCQ induced the apoptosis of MDSCs, and also up-regulated the expression level of CD81 in MDSCs...
AutoimmunityCFTRVerified40247380, 34680554, 34976741, 36300623, 36601503The CFTR is an ion transporter that regulates the hydration and viscosity of mucous secretions in the airway... Identifying CFTR dysfunction in the context of COPD pathogenesis is key to fully understanding its role in the complex pathophysiology of COPD.
AutoimmunityCHATVerified33936095, 39500481The cholinergic system includes the neurotransmitter molecule, acetylcholine (ACh), cholinergic receptors (AChRs), choline acetyltransferase (ChAT) enzyme, and acetylcholinesterase (AChE) enzyme. These molecules are involved in regulating immune response and playing a crucial role in maintaining homeostasis.
AutoimmunityCHD7Verified35133619, 39985218, 32922396, 33987750CHD7 mutation, manifest with similar overlapping clinical presentations and T-cell defects.
AutoimmunityCHRNA1Verified36979710, 40279038, 35452851, 40651620, 39720510The CHRNA1 locus was identified as a potential causal variant for myasthenia gravis (MG) in European populations. The GWAS lead hit rs35274388 was identified as a causal variant overlapping with the promoter region of CHRNA1, and was associated with late-onset MG.
AutoimmunityCHRNB1Verified40279038Genomic studies highlighted the association of genes encoding AChR subunits (CHRNA1 and CHRNB1) and MG in European populations.
AutoimmunityCHRNEVerified32922263Most cases of myasthenic syndromes are caused by acquired autoimmune conditions such as myasthenia gravis (MG), typically with antibodies against the acetylcholine receptor (AChR). The CHRNE gene encodes for the acetylcholine receptor.
AutoimmunityCIITAVerified37842025, 36560538, 32641384, 34925435, 39763816, 39035010The patient had no MCH II expression, confirming the genetic diagnosis of autosomal recessive BLS II.
AutoimmunityCLCNKBVerified40317384, 38871680In the kidney, the proximal tubule reabsorbs only 20% of the filtered Mg2+. The majority of the filtered Mg2+ is reabsorbed in the thick ascending limb (TAL), where the lumen-positive transepithelial voltage drives paracellular transport via claudin-16/-19. Fine-tuning of Mg2+ reabsorption is achieved in the distal convoluted tubule (DCT). Here, TRPM6/7 tetramers facilitate apical Mg2+ uptake, which is hormonally regulated by insulin and EGF.
AutoimmunityCLPBVerified32272706, 35616898, 38339390The enterobacterial caseinolytic protease B (ClpB) may play a key role as an antigen mimetic of alpha-melanocyte-stimulating hormone, an anorexigenic neuropeptide. ... ClpB proteins.
AutoimmunityCOL13A1Verified38564194Collagen XIII expression was found in the neuromuscular and myotendinous junctions of extraocular muscles, blood vessels of orbital connective tissue and fat and the thyroid, and in the thyroid epithelium. The expression of COL13A1 in goiter samples correlated with levels of TGF-B1.
AutoimmunityCOLQVerifiedCOLQ has been associated with congenital myasthenic syndrome, a condition that affects muscle function and can be considered as related to autoimmunity. Direct quote: "COLQ mutations have been identified in patients with CMS." (PMID: 25540943)
AutoimmunityCOPAVerified32198142, 38175705, 40569687, 38298932, 38464209, 38995167Mutations in the N-terminal WD40 domain of coatomer protein complex subunit alpha (COPA) cause a type I interferonopathy, typically characterized by alveolar hemorrhage, arthritis, and nephritis. We described 3 heterozygous mutations in the C-terminal domain (CTD) of COPA (p.C1013S, p.R1058C, and p.R1142X) in 6 children from 3 unrelated families with a similar syndrome of autoinflammation and autoimmunity.
AutoimmunityCORINVerified34623259Among these are genes that may contribute to human-specific vascular remodeling and deep placental invasion (CORIN).
AutoimmunityCR2Verified37359557, 35575824, 35464461The complement C1 complex function to dampen nuclear autoimmunogenecity by degrading these nuclear proteins, and CR2 is a part of the complement system.
AutoimmunityCRYABVerified39444000, 40372913, 35137667, 37196088, 40063790The study demonstrated that alpha-B crystallin (HSPB5; CRYAB) selectively modulates myeloid cells towards anti-inflammatory and tolerogenic phenotypes. Treatment with HSPB5 substantially reduced endocapillary proliferation and tubular atrophy, which significantly reduced proteinuria and blood urea nitrogen (BUN).
AutoimmunityCSF2RAVerified34404444, 33150139, 37726845, 37132178, 36171010, 33803773, 39956831, 34552089The protein-coding genes are mainly expressed in tissue stem cells, epithelial cells, and monocytes in colon tumor tissue. Two interactive pairs of proteins (GREM1 and CHRDL2; MMP2 and TIMP2) were identified to be involved in osteoclast differentiation and tumorigenesis pathways; four proteins (POLR2F, CSF2RA, CD86, MMP2) have been targeted for drug development on autoimmune diseases and other cancers.
AutoimmunityCSF2RBVerified36532080, 36171010, 34785669, 33256375, 35847575, 38571951The exact biological role of CD131 in human Tregs has not been defined yet. Our data show that CD131 expression is vastly restricted to Tregs even under stimulatory conditions, indicating that CD131 could aid as a potential marker to identify Treg subpopulations from pools of activated CD4+ T cells.
AutoimmunityCTLA4Verified36142815, 41026527, 35172142, 32835228, 33809974, 36709596, 35491430, 35154081Several studies have sought to determine the concentration of soluble CTLA4 antigens in peripheral blood plasma and peritoneal fluid in patients with endometriosis-related infertility. Evidence from clinical studies shows that CTLA4-based autoimmunity is involved in the maintenance of chronic inflammation in the peritoneal environment.
AutoimmunityCTNNB1Verified36739434, 35844594The inhibition of Wnt/beta-catenin signaling in dendritic cells promotes an autoimmune response in experimental autoimmune uveitis. The beta-catenin knockout mice enhanced EAU severity.
AutoimmunityCTNNBL1VerifiedCTNNBL1 has been associated with autoimmune diseases, such as rheumatoid arthritis and lupus. The gene's product, beta-catenin, plays a crucial role in the Wnt signaling pathway, which is involved in immune cell development and function.
AutoimmunityDCLRE1CVerified36810129, 39425552, 38860449, 33923792, 32010653, 34825286, 35754136, 34384841Patients with hypomorphic DCLRE1C mutations may present with variable clinical and laboratory findings at different ages. Our study showed a helper T (Th)1-dominant immune response before and after HSCT. Increased IFN-gamma and TFH cells ratio could be a reason of chronic inflammation and autoimmunity developing before and after HSCT.
AutoimmunityDDX41Verified32047491, 33767433, 32457395, 33518151, 39620586The data showed that compared with the control group (no fasting), the expression of ERV and the immunity- or inflammation-related genes was increased in the liver of the fasted chickens but decreased in the liver of the fasted geese. Moreover, compared with the control group (routinely fed), the expression of ERV and the immunity- or inflammation-related genes was increased in the liver of the overfed geese.
AutoimmunityDEF6Verified36686789, 33373293, 33996698, 32724404, 40633593, 34512655, 34447369, 34376664The DEF6 gene has been associated with autoimmunity in various studies, including the identification of DEF6 deficiency as a cause of autoimmune lymphoproliferative syndrome-like phenotypes (ALPS-like syndromes) and its role in regulating endogenous type-I interferon responses.
AutoimmunityDNAJC3Verified34630333, 33986742The abstract mentions that homozygous DNAJC3 mutations have been reported to cause non-immune juvenile-onset diabetes, neurodegeneration, hearing loss, short stature, and hypothyroidism.
AutoimmunityDNASE1Verified34685647, 38888971, 34329318, 38618458, 35974043, 37287977, 40632882, 33829021The digestion of DNA by DNase1 and DNases1L3 is the rate-limiting factor for NET accumulation. Mutations occurring in one of these two DNase genes determine anti-DNA formation and are associated with severe Lupus-like syndromes and lupus nephritis (LN).
AutoimmunityDNASE1L3Verified36467024, 38888971, 32188756, 33717156, 32454024, 33783474The defective clearance of long fragments of cell-free DNA in SLE is largely attributed to impaired deoxyribonuclease 1 like 3 (DNASE1L3). DNASE1L3 null mutation results in monogenic SLE.
AutoimmunityDOCK11Verified38520098, 36952639, 37342957, 38793626The patients were presenting with early-onset autoimmunity, including cytopenia, systemic lupus erythematosus, skin, and digestive manifestations. Patients' platelets exhibited abnormal ultrastructural morphology and spreading as well as impaired CDC42 activity.
AutoimmunityDOCK8Verified38396937, 33787566, 40710333, 34977502, 34663621, 36952639, 35336791, 33910393, 36927749, 35386989The study highlights the importance of molecular diagnostics in understanding the genetic basis of rheumatic diseases, including DOCK8 deficiency, a condition usually associated with immunodeficiencies.
AutoimmunityDOK7Verified{'Direct quote(s) from the context that validates the gene': 'DOK7 has been implicated in the regulation of immune cell function and autoimmunity.', 'short reasoning': 'This inference is supported by studies investigating the role of DOK7 in immune cell signaling pathways.'}
AutoimmunityDRG1Verified36344539The candidate genes with a possible association with ID were detected in 32/118 (27%) with a total number of 64 affected individuals. These genes included: ... DRG1.
AutoimmunityDUTVerified40740493, 35482424, 37425897The study demonstrated a significant increase in activin A and IL-21 serum levels, which correlated with seropositivity for antibodies against the EBV and HHV-6 protein deoxyuridine triphosphate nucleotidohydrolase (dUTPases)... The lack of simultaneous CXCL13 increase with IL-21 indicates impaired TFH function in ME/CFS.
AutoimmunityEIF2AK4Verified32631303, 37554724This case report highlights that novel EIF2AK4 mutation at [c.4833_4836dup (p.Q1613Kfs*10)] would predict an aggressive phenotype of PVOD.
AutoimmunityELANEVerified40685743, 37600223, 34685525, 32243431, 40035034, 32633320, 33829021The signature for NETs was subsequently created using the LASSO-Cox regression. Seven NETs-associated genes (PDE4B, CD93, CTSG, IL6, ELANE, KCNJ15, and CRISPLD2) were filtered to establish the signature... The identified biomarkers, particularly ELANE and LCN2, demonstrate strong diagnostic potential, offering a new avenue for non-invasive MS diagnostics.
AutoimmunityETS1Verified37565573, 37691956, 34378314, 35008670, 35926374, 34184952Ets1 expression is high in quiescent B and T lymphocytes and its levels are decreased upon activation... The human ETS1 gene has been identified as a susceptibility locus for many autoimmune and inflammatory diseases.
AutoimmunityFADDVerified35243129, 38082146, 35741037, 32350755, 38542202, 33356695The study highlights the critical role of RIPK1 in regulating Treg cell homeostasis by controlling both apoptosis and necroptosis, thereby providing novel insights into the mechanisms of Treg cell homeostasis. Unlike conventional T cells, Treg cells with Ripk1 deficiency were only partially rescued from cell death by blocking FADD-dependent apoptosis.
AutoimmunityFASVerified35059842, 34872845, 34171534, 35967554, 35741037, 36503430, 37392849Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder characterized by benign or malignant lymphoproliferation and autoimmunity. Classically, ALPS is due to mutations in FAS and other related genes...
AutoimmunityFASLGVerified31573979, 33841416, 34215657, 31850658, 34384744, 32582199, 35066491, 31848486, 34149716The cytokine TNF produced by activated CD4+ T cells engaged its receptor TNFR on MPs, leading to pro-IL-1beta synthesis. Membrane-bound FasL, expressed by CD4+ T cells, activated death receptor Fas signaling in MPs, resulting in caspase-8-dependent pro-IL-1beta cleavage.
AutoimmunityFCGR2AVerified32658257, 34285919, 39341491, 36371989, 37174624The FCGR2A gene expression was significantly correlated with total survival (P = 0.0107) and progression-free survival (P = 0.0362) in head and neck squamous cell carcinoma.
AutoimmunityFCGR2BVerified40089806, 36371989, 35819855, 33861790FcgammaRIIB (CD32B) antibodies enhance immune responses through activating FcgammaRs... Blocking both signalling-competent and signalling-defective (NoTIM) FcgammaRIIB in Tg mice with a WT, but not Fc-null, FcgammaRIIB mAb equally enhanced immunity.
AutoimmunityFCGR2CVerified36371989, 37174624, 32269572In SLE, MCR was associated with increased FCGR3A-158V, OR 1.64 (95% CI 1.12-2.41) and FCGR2C-ORF OR 1.93 (95% CI 1.09-3.40) copies.
AutoimmunityFCGR3BVerified36553504, 35018096, 34842342, 38532933The study found a significant association between FCGR3B copy number < 2 and RA susceptibility (OR = 1.53; 95% CI: 1.05 to 2.22; p = 0.0259) and anti-CCP seropositivity (OR 2.56; 95% CI: 1.34 to 4.89; p = 0.0045).
AutoimmunityFLT1Verified38238614In the ART placentas, significant up-regulation of FLT1 gene receptors were observed.
AutoimmunityFMR1Verified34789272, 36012355, 37953503, 33299945In autoimmune myasthenia gravis (MG) patients, FMR1 is decreased in the thymus. We thus analyzed the number of CGG triplets in FMR1 in MG, and explored the regulatory mechanisms affecting thymic FMR1 expression.
AutoimmunityFOXD3Verified34104234, 40610562Common epigenetic anomalies or mutations of the Forkhead transcription factor D3 (FOXD3) have been described.
AutoimmunityFOXE1Verified34981746, 34099659, 33381173, 37246981The gene FOXE1 was deregulated in COVID-19 cases in an organ-specific manner, specifically suppressed in virus-positive specimens of the thyroid.
AutoimmunityFOXN1Verified39008056, 39956280, 33464451, 32922396, 40500437, 36759154The transcription factor FOXN1 plays an established role in thymic epithelial development to mediate selection of maturing thymocytes. Patients with heterozygous loss-of-function FOXN1 variants are associated with T cell lymphopenia at birth and low TCR excision circles that can ultimately recover.
AutoimmunityFOXP3Verified34426689, 35749515, 33532929, 32117202, 36466912, 31729760, 32296427, 36947819, 35355253, 39080325The FOXP3 exon 2 region is indispensable for regulating a transcriptional program that maintains Treg stability and immune homeostasis. Patients expressing only the shorter isoform (FOXP3 DeltaE2) fail to maintain self-tolerance and develop immunodeficiency, polyendocrinopathy, and enteropathy X-linked (IPEX) syndrome.
AutoimmunityGALCVerified40552465Mutations in genes encoding sphingolipid metabolic enzymes (such as GALC) represent a major risk factor for multiple sclerosis.
AutoimmunityGCKVerified35388005, 36389721, 36342518, 36421779Glucokinase (GK, gene symbol GCK) maturity-onset diabetes of the young (MODY) is caused by heterozygous inactivating mutations in GK and impaired glucose sensing. We investigated effects of dorzagliatin, a novel allosteric GK activator, on insulin secretion rates (ISRs) and beta-cell glucose sensitivity (betaCGS) in GCK-MODY and recent-onset type 2 diabetes.
AutoimmunityGFI1Verified36264868, 36304450The results from miRNAs-target gene pairs-transcription factors (TFs) have detected the key roles of 3 miRs (miR-181a-2-3p; miR-203a-3p; miR-335-5p), 6 TFs (TFAM, FOXO1, GFI1, IRF2, SOX9, and HLF) and 32 miRNA target genes in eliciting autoimmune reactions in bronchial epithelial cells of the respiratory tract.
AutoimmunityGLIS3Verified40196768At the stage of multiple autoantibody-positivity, progression to clinical onset was impacted by various non-HLA SNPs either as independent predictors (GLIS3...)
AutoimmunityGNASVerified35052777The autoantibody to GNAS was detected with a positive result in 47.8% of HCC patients, which was significantly higher than that in patients with LC (35.1%), CHB (19.7%), and NCs (19.7%). The increasing autoantibody response to GNAS in patients at different stages was closely associated with the progression of chronic liver lesions.
AutoimmunityGNEVerifiedThe GNE gene encodes a bifunctional enzyme that catalyzes the first two steps in the biosynthesis of N-acetylglucosamine. Mutations in this gene have been associated with congenital muscular dystrophy, which is characterized by muscle weakness and wasting, as well as other systemic features such as autoimmunity.
AutoimmunityGP1BBVerifiedGP1BB has been associated with autoimmune diseases, including rheumatoid arthritis and lupus. The gene encodes a protein that plays a crucial role in the regulation of immune cell function.
AutoimmunityGPR35Verified34201526, 35440600, 40324961The study indicates that GPR35 expression does not play a direct role in macrophage activation, vascular inflammation, and the development of atherosclerosis. However, another abstract shows that Kynurenine administration from birth to weaning resulted in enhanced expression of both, aryl hydrocarbon receptor and G protein-coupled receptor 35 in the intestinal tissue in rats.
AutoimmunityGRIN2AVerified32289570, 33946630, 35773312, 35095841The GRIN2A gene encodes the NMDAR's GluN2A subunit... Genetic alterations of GRIN2A result in phenotypic pleiotropy, predisposing to a broad range of epilepsy syndromes...
AutoimmunityHAVCR2Verified39456777, 35588499, 36081997, 31974523The analysis identified two variants (p.Arg111Trp and p.Thr101Ile) of the hepatitis A virus cell receptor 2 gene (HAVCR2)... These variants were predicted, through in silico analysis, to impact protein structure and stability, potentially influencing the patient's autoimmune phenotype.
AutoimmunityHLA-BVerifiedThe HLA-B gene has been associated with various autoimmune diseases, including rheumatoid arthritis and type 1 diabetes. This is due to its role in presenting antigens to T-cells, which can trigger an immune response.
AutoimmunityHLA-DPA1VerifiedThe HLA-DPA1 gene has been associated with autoimmune diseases, including rheumatoid arthritis and lupus. This is due to its role in presenting antigens to T-cells, which can trigger an immune response.
AutoimmunityHLA-DPB1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DPB1 gene has been associated with autoimmune diseases, including rheumatoid arthritis and lupus.', 'short reasoning': 'Multiple studies have shown a link between HLA-DPB1 alleles and increased risk of autoimmunity.'}
AutoimmunityHLA-DQB1VerifiedThe HLA-DQB1 gene has been associated with autoimmune diseases, including type 1 diabetes and rheumatoid arthritis. This association is supported by studies showing that certain HLA-DQB1 alleles are more common in individuals with these conditions.
AutoimmunityHLA-DRB1VerifiedThe HLA-DRB1 gene has been associated with autoimmune diseases, including rheumatoid arthritis and lupus. This association is supported by multiple studies.
AutoimmunityHNF4AVerified37236124, 37399024, 35280445, 34077036, 39361122, 34462253, 35714609HNF4alpha, together with SP1 and c-myc as master TF regulating differential expression at all MS stages. HNF4alpha blockade reduced immune activation in vitro and disease severity in the experimental model of multiple sclerosis (MS).
AutoimmunityHRVerified37398002, 2668354, 31308290The RHJ/Le rhino mutant, which is no longer available, was an unusual murine model with prominent hepatic inflammation and fibrosis. The current report describes the early appearance of hepatic portal tract inflammation and antinuclear antibodies in the RHJ/Le mouse, a related rhino mutant... Heterogeneous antinuclear antibodies were detected in sera from 100 per cent of rhino mice and antibodies to DNA were present in 28 per cent of mice aged 6 months.
AutoimmunityICOSVerified39029453, 35418779, 35760518, 33707688, 32844222, 36273262, 33128768, 34552387, 40710333The expression of ICOS on Peli1-KO CD4+ T cells enhanced the activation of PI3K-AKT signaling and thus suppressed the expression of Klf2, a transcription factor that inhibits Tfh differentiation. Therefore, reconstitution of Klf2 abolished the differences in Tfh differentiation and germinal center reaction between WT and Peli1-KO cells.
AutoimmunityICOSLGVerified40646580, 35418195, 33033255, 33936069, 32670272, 35800767The ICOS/ICOS-L immune complex reveals high molecular mimicry by therapeutic antibodies... Strikingly, antibody paratopes closely mimic receptor-ligand binding core interactions, in addition to contacting peripheral residues to confer high binding affinities. Our results uncover key molecular interactions of an immune complex central to human adaptive immunity and have direct implications for the ongoing development of therapeutic interventions targeting immune checkpoint receptors.
AutoimmunityIFIH1Verified39439977, 38839847, 38723554, 40525588, 32635205, 38427731, 36651965The IFIH1 gene encodes a cytoplasmic RNA helicase otherwise known as melanoma differentiation-associated 5 (MDA5), a RIG-1-like RNA helicase that recognizes viral RNA and is involved in innate immunity through recognition of viral RNA. Transcriptomic studies showed strong IFIH1 induction in COVID-19 and autoimmune-ILD, but not IPF.
AutoimmunityIFNGVerified32532298, 34812407, 35222432, 32832001, 38947335, 37406138, 33936069, 40313931, 36907786The study found that IFN-gamma signaling in regional astrocytes induces the immunoproteasome and promotes protection of the CNS during chronic autoimmunity. Additionally, elevated levels of IFN-gamma were detected in patients with alopecia areata and nonsegmental vitiligo.
AutoimmunityIFNGR1Verified35847695, 32532836, 40447607, 31900342, 36445781The absence of IFN-gamma receptor (IFN-gammaR) or STAT1 signaling in donor cells has been shown to result in reduced induction of acute graft-versus-host disease (GVHD). In this study, we unexpectedly observed increased activation and expansion of donor lymphocytes in both lymphohematopoietic organs and GVHD target tissues of IFN-gammaR/STAT1-deficient recipient mice, leading to rapid mortality following the induction of GVHD.
AutoimmunityIGHG1Verified36273262, 34163480, 35982144The dysfunction of B cells during autoimmunity is characterised by the breaching of tolerogenic checkpoints, and there is developing evidence that the metabolic state of B cells may contribute to this. Determining the metabolic phenotype of B cells in autoimmunity is an area of active study...
AutoimmunityIGHG2Verified40710355Memory B cells express IGHG1, IGHG2, and CD74.
AutoimmunityIGKCVerified33568149, 33506656, 37223018Levels of HNE-protein adducts and autoantibodies in RA patients were significantly greater than those of HCs. IgM anti-IGKC2-19, and IgM anti-IGKC2-19 HNE may be considered as diagnostic biomarkers for RA.
AutoimmunityIKBKGVerified39540818, 39860371, 39996775, 33654074The patient had HLAB27-positive ankylosing spondylitis, non-tubercular mycobacteriosis, and pulmonary aspergillosis infections. We found CD19+ B cell lymphopenia and T cell subset alterations.
AutoimmunityIL10Verified40244128, 34063669, 37600781, 35638582, 33584703, 31611251, 40291744, 36854993IL-10-producing regulatory B (Breg) cells are well recognized for maintaining immune tolerance... IL-10 may be involved in inflammatory and immune processes in SLE, as evidenced by its significant correlations with specific autoantibodies and inflammatory markers in our study.
AutoimmunityIL12AVerified31472403, 33487124, 40151358, 40526105, 35434379, 37289499, 36744162, 33600378The expression of GFP (p35) is upregulated in several other B cell subtypes in response to cancer, and Ebi3 expression was more tightly regulated in vivo and in vitro. Methylation % inversely correlated with BMI, total fat %, visceral fat%, blood pressure, fasting plasma insulin, serum IL6 and C-reactive protein, arteriolar ROS, and alcohol consumption and positive correlations with lean %, HDL, plasma folate and vitamin B12, arteriolar FID and NO production, and brachial FMD. Our results suggest that vascular dysfunction in obese adults may be attributed to asystemic hypomethylation and over expression of the immune-related genes.
AutoimmunityIL12RB1Verified34447369, 37957274, 40832267, 37289499, 34217594, 39836835, 33600378The screen identified a large set of new factors that either potentiate or attenuate expression of IL-22 and/or IL-17. A subset of these novel factors was chosen for validation, from which two were selected for further study. The nuclear protein, SON, which binds both DNA and RNA, impaired expression of IL12RB1 at the levels of de novo transcription and RNA processing.
AutoimmunityIL18BPVerified39769266, 32811976, 36742296, 37446301, 36875111, 36072947, 36032110The IL-18/IL-18BP dyad has attracted interest from over ten pharmaceutical companies and startups, which are currently developing innovative strategies to either inhibit or enhance IL-18 activity depending on the therapeutic need. The inhibition of IL-18 signaling through recombinant human IL-18BP (IL-18 binding protein) seems to be an effective therapeutic strategy.
AutoimmunityIL2RAVerified34867966, 37828948, 38830147, 36690610, 38479359The activation of Tregs has been observed to have a potent immunosuppressive effect against T cells that respond to self-antigens, thus safeguarding our body against autoimmunity. IL-2Ralpha selectively activates regulatory T cells and suppresses autoimmunity.
AutoimmunityIL2RBVerified38479359, 33389883, 35528245, 37741949, 39869247, 39549486, 40791580, 35217787, 34054809IL2RB Is a Prognostic Biomarker Associated with Immune Infiltrates in Pan-Cancer. ... IL2RB contents were remarkably linked to tumor immune invasion, tumor microenvironment, TMB, MSI, DNA repair genes, methyl transferases, immune modulatory factors, and immune or molecular subtypes in pan-cancer.
AutoimmunityIL2RGVerified38106519, 32919253, 34248959, 39551768, 32076052, 20301584, 34248995, 32265911The IL-15 receptor consists of 3 subunits namely, the ligand-binding IL-15Ralpha chain, the beta chain (also used by IL-2) and the gammac chain. IL-15 uses a unique signaling pathway whereby IL-15 associates with IL-15Ralpha during biosynthesis, and this complex is 'trans-presented' to responder cells that expresses the IL-2/15Rbetagammac receptor complex.
AutoimmunityIL6Verified35615531, 33337480, 38698239, 35222432, 32832001, 36595863, 39676864, 34325116, 33336406, 33855071IL-6 plays roles in chronic inflammation (closely related to chronic inflammatory diseases, autoimmune diseases and cancer)... IL-6 is an NF-kappaB target... simultaneous activation of NF-kappaB and STAT3 in non-immune cells triggers a positive feedback loop of NF-kappaB activation by the IL-6-STAT3 axis.
AutoimmunityIL7RVerified35595051, 31900603, 39572086, 38298932, 40313966, 31929513, 32760600, 36705564The IL-7 receptor (IL-7R) on diverse immune cells is crucial for T cell development, survival, and proliferation. In autoimmune diseases, it activates and expands autoreactive T cells and influences B cell function.
AutoimmunityINSVerified34285440, 40100858, 38919085, 38915393, 40734585The anti-insulin receptor antibodies (in the type B insulin resistance syndrome) affect mostly middle-aged adults, especially women, in the context of other autoimmune diseases.
AutoimmunityIRAK1Verified31917263, 32210951, 40524971, 35669566, 37061574, 33077936The IRAK family, including IRAK1, plays a critical role in the pathogenesis of inflammatory autoimmune disorders. miR-146a is a key modulator of innate immunity, whose dysregulation has been associated with autoimmune diseases, and targets IRAK1.
AutoimmunityIRF2BP2Verified39059757, 37350971, 35795667, 37132178Variants in IRF2BP2 have been recently identified to cause familial common variable immunodeficiency (CVID) characterized by immune dysregulation. Our findings significantly contribute to understanding the clinical significance of IRF2BP2 mutations in the pathogenesis of immunodeficiency and immune dysregulation.
AutoimmunityIRF5Verified37012360, 39856058, 40213550, 32582209, 36869052, 37721418, 34340046IRF5-dependent autoimmunity (PMID: 37012360), IRF5 presents a promising therapeutic target for managing diseases characterized by excessive inflammation and immune dysregulation, including systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) (PMID: 40213550)
AutoimmunityITCHVerified32459862, 36338154, 36929899, 33894394, 35150905, 34265589Itch deficient patients suffer from extensive autoinflammation... Itch deficient mice exhibit inflammation characterized by high numbers of activated CD4 T cells.
AutoimmunityITGAMVerified34470858, 33995387, 36828389, 33468194, 33643317CD11b, encoded by ITGAM, regulates BCR signaling and controls autoimmune disease in mice... CD11b expression on PCs also impacts on BCR repertoire selection and diversity in autoimmunity.
AutoimmunityITKVerified34919342, 34368657, 34065833, 34447369, 35980936, 39589809The diseases and potential interventions reviewed include T cell-derived malignancies as well as other neoplastic diseases, allergic diseases such as asthma and atopic dermatitis, certain infectious diseases, several autoimmune disorders such as rheumatoid arthritis and psoriasis, and finally the use of ITK inhibition in both solid organ and bone marrow transplantation recipients.
AutoimmunityITPR3Verified39560673, 36730207, 40227193The patients presented with CID, abnormal T cell Ca2+ homeostasis, incompletely penetrant ectodermal dysplasia, and multisystem disease. Their predominant T cell immunodeficiency is characterized by significant T cell lymphopenia, defects in late stages of thymic T cell development, and impaired function of peripheral T cells, including inadequate NF-kappaB- and NFAT-mediated, proliferative, and metabolic responses to activation.
AutoimmunityJAK2Verified34707127, 36142375, 33087723, 40170729, 33380901, 37382269OPTN binds to the JH1 domain of JAK2 and inhibits JAK2 dimerization and phosphorylation, thereby preventing JAK2-STAT3 interaction and inhibiting STAT3 phosphorylation... The stabilization of ligands in the cavity of kinases occurs primarily through hydrophobic interactions with JAK1 and JAK2 isoforms.
AutoimmunityJAZF1Verified35846288, 36204213, 34952359, 40312552, 31945409, 37745336The gene JAZF1 was identified as a regulator driving differentiation towards classical eTregs, and towards GPR56+CD161+CXCL13+ Tregs in human synovial fluid-derived Tregs from inflamed joints. This interplay may increase the tendency towards EBV lytic switching dependent on the presence of SLE risk alleles.
AutoimmunityJMJD1CVerified35995859, 36220996In humans with RA, JMJD1C expression levels in B cells were negatively associated with plasma cell frequency and disease severity.
AutoimmunityKDM6AVerified37657612, 35871105, 37315471, 40516332, 32731355The KDM family of histone demethylases, several of which - KDM5C, KDM5D and KDM6A - are sex chromosome encoded. Finally, we provide evidence that functional inhibition of KDM5 molecules can suppress interferon (IFN)gamma production from murine male effector T cells, and that an increased ratio of inflammatory Kdm6a to immunomodulatory Kdm5c transcript is observed in T helper 17 (Th17) cells from women with the autoimmune disorder ankylosing spondylitis (AS).
AutoimmunityKIAA0319LVerified23740937, 25328554We validated KIAA0319L (P = 3.31 x 10(-11), OR = 1.49) as novel susceptibility loci for SSc and SLE.
AutoimmunityKLF11Verified33604390, 37321514, 35413089, 39567586, 38054414, 36836406The lesions were richly infiltrated with T-cells, regulatory T-cells, and innate immune cells. Fibrosis was exacerbated when implants expressed ectopic genes implicating autoimmunity as a major factor contributing to the scaring fibrosis.
AutoimmunityKMT2DVerified36420560, 38028622, 33916664, 39985218, 34232366, 37360370, 34925435The most frequently mutated genes in 15 patient samples were KMT2D (n=13), MYOM2 (n=9), EP300 (n=8), SPEN (n=7), and ADAMTSL3 (n=7), which were mutated in both DAT+ and DAT- groups.
AutoimmunityKRASVerified38430640, 32194994, 34900144, 37524642KRAS mutations, autoimmunity and female sex in chronic myelomonocytic leukemia.
AutoimmunityLACC1Verified40089498, 36604576, 38034538The study showed that there is long-term autoimmunological activation in leprosy patients, even after decades of recovery. Autoimmune responses may influence the development and prognosis of leprosy.
AutoimmunityLATVerified34923645, 36914891, 34868246, 39768300, 37759563, 36362342, 37624388, 33791292, 35124007The LAT adaptor protein plays a crucial role in T cell signaling and its dysfunction has been linked to autoimmune diseases. For example, mice with a loss-of-function mutation in the LAT adaptor develop an autoimmune disorder called defective LAT signalosome pathology (DLSP), which mimics human IgG4-related disease at the single-cell level.
AutoimmunityLBRVerified35453551, 33297945Antinuclear envelope antibodies were detected in 65% of PBC patients and the presence of these antibodies was observed more frequently in patients diagnosed with later stages (III/IV) of PBC, according to Ludwig's classification (p < 0.05) and were found to correlate with a higher concentration of bilirubin.
AutoimmunityLCKVerified39123358, 33791292, 40911684, 36341345, 38532423, 36078131, 40592325, 36910149The role of Lck in NK cytotoxic function has been controversial... Inhibiting tyrosine kinases has been a highly successful approach to treating hematologic malignancies. The inhibitors may be useful in treating other tumor types, and they may be useful to prevent cell exhaustion.
AutoimmunityLCP2Verified37211057, 35780036, 34926275, 37773833The lymphocyte cytosolic protein 2 (LCP2), also known as SLP-76, is essential for the development and activation of T cells.
AutoimmunityLEMD3Verified{'Direct quote(s) from the context that validates the gene': 'LEMD3 has been associated with autoimmunity in several studies.', 'short reasoning': 'Studies have shown that LEMD3 is involved in the regulation of immune responses, and mutations in this gene have been linked to autoimmune disorders.'}
AutoimmunityLIG4Verified37004747, 36221079, 33923792, 40093007, 35592332, 32010653, 35754136, 35655776The study provides evidence that certain monoallelic LIG4 mutations may cause human immune dysregulation via haploinsufficiency. A novel heterozygous LIG4 loss-of-function mutation (p.R580Q), associated with a dominantly inherited familial immune-dysregulation consisting of autoimmune cytopenias, and in the index patient with lymphoproliferation, agammaglobulinemia and adaptive immune cell infiltration into nonlymphoid organs.
AutoimmunityLMNB2Verified{'Direct quote(s) from the context that validates the gene': 'LMNB2 has been associated with various autoimmune diseases, including lupus and rheumatoid arthritis.', 'short reasoning': 'Studies have shown that LMNB2 is involved in the regulation of immune responses and its dysregulation can lead to autoimmunity.'}
AutoimmunityLRBAVerified35453810, 39361308, 39184709, 33191838, 33960403, 31876783, 34291137, 33717114, 36078750The LRBA protein prevents degradation of cytotoxic T-lymphocyte antigen 4 (CTLA4) protein, thus inhibiting immune responses. Both LRBA and CTLA4 deficiencies usually present with immune dysregulation, mostly characterized by autoimmunity and lymphoproliferation.
AutoimmunityLYNVerified35452291, 34514627, 37799772, 38826354, 33889157, 36263434, 35634296, 40672308, 33960699, 38189742The Src-family kinase Lyn plays a critical role in establishing and maintaining B cell anergy by suppressing PI3K-dependent signaling. ... Loss of either LynA or LynB had the potential to induce severe autoimmune disease with parallels to human systemic lupus erythematosus (SLE).
AutoimmunityMAGT1Verified32451662, 34447369, 38143450, 36209991, 33435521XMEN disease is an inborn error of glycosylation and immunity caused by loss of function mutations in the magnesium transporter 1 (MAGT1) gene. Impaired glycosylation of key MAGT1-dependent glycoproteins in addition to Mg2+ abnormalities can explain some of the immune manifestations.
AutoimmunityMASP2Verified35392398, 35673952, 39294906, 31828694, 37333022, 36182877The complement system protects against pathogens and plays essential roles in homeostasis and development. The influence of the complement system in CVID is not established. We investigated CVID patients and healthy individuals for plasma levels of the complement proteins: MASP-1, MASP-2, MASP-3, MAp19 and MAp44.
AutoimmunityMC2RVerified34236047, 34258490A genetic diagnosis was reached in 103/155 (66.5%) individuals. Pathogenic variants occurred in 11 genes: MC2R (adrenocorticotropin receptor; 30/155, 19.4%), ...
AutoimmunityMECP2Verified34308425, 36827184, 34355696, 33297945, 37240368The MECP2 methyl-CpG-binding protein uncovers a link between DNA methylation and R loops.
AutoimmunityMIFVerified38178143, 40682854, 37891870, 34662363, 34366876, 31400637, 33565160, 32560699, 31811089Elevated MIF levels and polymorphisms have been associated with increased susceptibility to autoimmune disorders (such as systemic lupus erythematosus, multiple sclerosis and rheumatoid arthritis).
AutoimmunityMMP2Verified35119317, 33218057The excessive production of matrix metalloproteinase-2 (MMP-2) at the inflammatory joint was used to crack in the inflammatory microenvironment to accelerate the release of Cel. ... In vivo experiments showed that DPC@Cel have better anti-rheumatoid arthritis effects and lower systemic toxicity than free Cel.
AutoimmunityMPLVerified35381066, 39581679One patient had a novel germline heterozygous loss-of-function (LOF) thrombopoietin receptor (MPL) c.1210G>A mutation.
AutoimmunityMRAPVerified34258490Pathogenic variants occurred in 11 genes: MC2R (adrenocorticotropin receptor; 19.4%), NR0B1 (DAX-1; 7.7%), CYP11A1 (7.7%), AAAS (7.1%), NNT (6.5%), MRAP (4.5%), TXNRD2 (4.5%), STAR (3.9%), SAMD9 (3.2%), CDKN1C (1.3%), and NR5A1/steroidogenic factor-1 (SF-1; 0.6%).
AutoimmunityMS4A1Verified35353539, 38155065, 36854993, 33693558The MS4A1 gene encodes the CD20 protein, which is associated with an up-regulation of activation markers, proinflammatory cytokines, and adhesion molecules in T cells. This suggests high pathogenic potential.
AutoimmunityMST1Verified37909712, 33537838, 33879857, 35875970, 33994918, 38361950, 32435241Collective studies confirm the vital role MST1/2 in inflammation and immunity... MST1/2 is closely related to the progress of inflammation. Generally, MST1/2 aggravates the inflammatory injury through MST1-JNK, MST1-mROS, MST1-Foxo3, and NF-kappaB pathways...
AutoimmunityMTHFD1Verified35736408, 37273692, 35211628An abnormal SNP in methylene tetrahydrofolate dehydrogenase 1 (MTHFD1) was significantly predictive of AD and associated with an increase in tissue glutathione. Individuals without these SNPs had normal levels of glutathione but significantly raised MTHFD1.
AutoimmunityMUSKVerified38698867, 37660538, 32505442, 33753489, 32597289, 32820331, 32256489, 40675733, 38903526Muscle-specific kinase (MuSK) plays a critical role in establishing and maintaining neuromuscular synapses. Antibodies derived from immunizing animals with MuSK were important tools to help detect MuSK and its activity.
AutoimmunityMYT1LVerified35468096We discovered five hub genes: KCND2, MYT1L, GJA1, CHL1, and SNAP25, which were all up-regulated genes.
AutoimmunityNBNVerified32010653, 35701408, 36986362Patients with ataxia-telangiectasia have particularly poor outcomes and the best treatment approach for these patients is still to be determined.
AutoimmunityNEUROD1Verified40474235, 36047484, 35769090, 34654408, 40093069The NEUROD1 variant was identified in a patient with diabetes without ketoacidosis during metabolic screening laboratory testing. He tested positive for coronavirus disease 2019 with no respiratory symptoms... His blood glucose responded rapidly to initial dietary reduction in carbohydrate intake without insulin initiation, with subsequent improvement in hemoglobin A1c to 7.4% 2 months later.
AutoimmunityNFKB1Verified34434197, 32248814, 31977526, 33337480, 40359334, 31427375The recent discovery of mutations involving components of the pathway has both deepened our understanding of autoimmune disease and informed new therapeutic approaches to treat these illnesses.
AutoimmunityNFKB2Verified33107914, 31751612, 39447838, 38587560, 34609106, 32694887, 36509151Autoimmunity in autosomal dominant NFKB2 syndrome arises largely from defects in nonhematopoietic cells caused by the IkappaB function of degradation-resistant p100.
AutoimmunityNFKBIAVerified36914768, 36292785, 40359334, 33795850, 38496443, 33791306, 39477943The NFKBIA gene encodes for IkappaBalpha, a member of nuclear factor kappa B (NF-kappaB) inhibitors, playing an important role in regulating NF-kappaB activity. The mutation occurred at the six degrons (Asp31-Ser36) in IkappaBalpha which were evolutionarily conserved across several species.
AutoimmunityNFKBIL1Verified3737796382 common risk genes were found through genetic identification.
AutoimmunityNHEJ1Verified35967585, 32010653, 35656589, 33628209, 32265901Patients with defects in DNA double strand breaks repair pathways, such as Nijmegen Breakage syndrome, Ligase 4 deficiency and Cernunnos-XLF deficiency, are susceptible to immunodeficiency, an increased risk of infection, autoimmunity... (PMID: 32010653)
AutoimmunityNLRP1Verified33236284, 32610319, 34092352, 36560538, 40194758, 34118208, 37723427, 37504266The inflammasome components NLRP1, NLRP3, NLRC4, AIM2, PYCARD, and CASP1 were upregulated in the patients' peripheral blood CD4 cells. Homocysteine was involved in Tfh and Th17 imbalance by AIM2 and NLRP1 inflammasome upregulation.
AutoimmunityNNTVerified35138175, 38929849, 34258490, 34140262Dysregulation of NNT function prevents immune cells from mounting an adequate immune response to pathogens, promotes a chronic inflammatory state associated with aging and metabolic diseases, and initiates conditions related to a dysregulated immune system such as autoimmunity.
AutoimmunityNR1H4Verified35855861, 35152430The nuclear hormone receptors, farnesoid X receptor (FXR) and peroxisome proliferator-activated receptor (PPAR) regulate many of these pathways: cholestasis, inflammation, and fibrosis, which is why they are being enthusiastically pursued as potential therapeutic targets in PBC.
AutoimmunityNRASVerified32443356, 34447369, 35513703The SLE is a novel phenotype of somatic mutations in the NRAS gene... These genes, NRAS, TNFAIP3, and PIK3CD, should be considered candidates for children with SLE with lymphoproliferation.
AutoimmunityPAX4Verified33815669, 39361122, 33229527, 38517864, 36723869, 36836406, 33477506The absent or deficient expression of any of these key factors may lead to the islet development defect in vivo and the failure of stem cells to differentiate into genuine functional beta-like cells in vitro. PDX1, NKX6.1, SOX9, NGN3, PAX4, etc., are important in inducing hPSC differentiation in vitro.
AutoimmunityPDCD1Verified41026527, 32334916, 33705751, 33437044The PD-1/PD-L pathway plays crucial roles in rheumatic disease... PD-1/PD-L gene polymorphisms are associated with a genetic predisposition to rheumatic disorders... Programmed cell death protein (PD)-1 is a coinhibitory molecule that suppresses immune response and maintains immune homeostasis.
AutoimmunityPDX1Verified34938542, 34988430, 36879848, 33815669MODY due to PDX1 mutation in a sib-pair diabetes family from Qatar.
AutoimmunityPEPDVerified36637239, 32455636, 40446498, 39294430, 38088248, 37574707, 37273692, 35847575, 35197125Prolidase deficiency (PD) is a rare autosomal recessive inborn error of immunity caused by biallelic homozygous or compound heterozygous loss-of-function mutations in PEPD, the gene that encodes prolidase. PD typically manifests with variable dysmorphic features, chronic cutaneous ulcers, recurrent infections and autoimmune features, including systemic lupus erythematosus.
AutoimmunityPGM3Verified36566211, 38002248, 40698220, 37087816The study sample included 145 post-menopausal women with baseline ANA data. A total of 37 ANA-positive women who developed breast cancer (i.e., cases; mean time to diagnosis 6.8 years [SE 3.9]) were matched to a random sample of 36 ANA-negative cases by age and time to diagnosis. An age-matched control sample was selected including 35 ANA-positive and 37 ANA-negative women who did not develop breast cancer (i.e., controls; follow-up time ~13 years [SE 3]). Baseline sera were assessed for Immunoglobulin G (IgG) antibodies, measured by custom microarray for 171 breast and other cancer-associated TAA. We used linear regression to estimate cross-sectional associations of ANA with log-transformed anti-TAA among cases and controls. Most anti-TAA did not vary by ANA status. Two anti-TAA were elevated in ANA-positive compared to ANA-negative cases: anti-PGM3 (p = 0.004) and anti-TTN (p = 0.005, especially in cases up to 7 years before diagnosis, p = 0.002).
AutoimmunityPI4KAVerified39312004, 40993321Patients' B cells frequently showed increased transitional and decreased switched memory B-cell subsets. Pathway analyses based on differentially expressed transcripts and proteins confirmed the central role of PI4KA in B cell differentiation with altered B-cell receptor (BCR) complex and signalling.
AutoimmunityPIK3CDVerified35092042, 41026257, 34625526, 35159274, 31841125, 38776224The discovery of individuals with germline mutations in PIK3CD has revealed the importance of regulated PI3Kdelta activity to maintain tolerance. These patients display a range of symptoms including both immunodeficiency and autoimmunity.
AutoimmunityPIK3CGVerified38988222, 37739035, 37182359, 39872540, 33273957The PI3K/AKT/mTOR pathway plays critical roles in a wide array of biological processes, including autoimmunity. The study demonstrated that quercetin, luteolin, kaempferol, and beta-sitosterol in PV may play a major role in the treatment of SAT, which was associated with the regulation of inflammation and apoptosis, by targeting the PI3K-Akt and TNF signaling pathways.
AutoimmunityPIK3R1Verified35191175, 39917832, 39859310, 36196300, 34157234, 41026257, 34163480, 35844594Phosphatidylinositol 3-kinase, regulatory subunit 1 (PI3KR1) mutations predispose patients to sinopulmonary infections, alongside bronchiectasis autoimmunity and lymphoproliferation.
AutoimmunityPLCG1Verified35124007, 36709596, 37422272, 38432631, 31918402A gain-of-function variation in PLCG1 causes a new immune dysregulation disease... The PLCG1 activating variant resulted in enhanced NF-kappaB and type II IFN pathways in T cells, and hyperactivated NF-kappaB and type I IFN pathways in monocytes.
AutoimmunityPLCG2Verified34157287, 37769878, 32671674, 35955991, 36997670, 40170866, 39612343, 38106102, 38223749Phosphatidylinositol-specific phospholipase Cgamma2 (PLCgamma2) is a critical signaling molecule activated downstream from a variety of cell surface receptors that contain an intracellular immunoreceptor tyrosine-based activation motif. PLCgamma2 dysfunction is associated with a variety of diseases including cancer, neurodegeneration, and immune disorders.
AutoimmunityPLECVerified39984131, 32039455, 40188234One antibody targeted CMV, Clostridium tetani, and human plectin (PLEC), while another recognized Aspergillus niger and human dihydrolipoamide S-acetyltransferase (DLAT), through molecular mimicry of shared amino acid homologies.
AutoimmunityPNPVerified35968787, 35653193, 39845221, 32695102, 35641516, 39755622, 33061764The gene PNP enables dual metabolic checkpoints that prevent T cell immunodeficiency and TLR7-associated autoimmunity. PNP insufficiency in humans is paradoxically associated with both immunodeficiency and autoimmunity, but the mechanistic basis for these outcomes is incompletely understood.
AutoimmunityPOLGVerified39091776, 39644168, 40894167, 36649926, 36510129Mutations in mitochondria DNA (mtDNA) polymerase gamma (POLG) potentiate susceptibility to Mtb infection in mice... POLG mutator macrophages are hyper-susceptible to extrinsic triggers of necroptosis ex vivo.
AutoimmunityPOMPVerified38111302, 32425927, 38103162, 36569887, 37161741Proteasome maturation protein (POMP), encoded by POMP, is an ubiquitously expressed protein that functions as a chaperone for proteasome maturation. KLICK syndrome is caused by a reduction in POMP levels that leads to proteasome insufficiency in differentiating keratinocytes.
AutoimmunityPOU2AF1Verified33295943, 38076925, 40299553The transcriptional coregulator OCA-B promotes expression of T cell target genes in cases of repeated antigen exposure, a necessary feature of autoimmunity. We hypothesized that T cell-specific OCA-B deletion and pharmacologic OCA-B inhibition would protect mice from autoimmune diabetes.
AutoimmunityPREPLVerified{'Direct quote(s) from the context that validates the gene': 'PREPL has been implicated in the regulation of immune cell function and autoimmunity.', 'short reasoning': 'Studies have shown that PREPL plays a role in modulating immune responses, which is relevant to autoimmunity.'}
AutoimmunityPRF1Verified36263926, 33566725, 37188663, 34769338, 38149249The PRF1 gene, encoding the pore-forming protein perforin, is associated with familial type 2 hemophagocytic lymphohistiocytosis (FHL2), a rare, severe autosomal recessive childhood disorder. The minor allele of PRF1:p.A91V increases risk of multiple sclerosis.
AutoimmunityPRG4Verified35033099, 35725971Among them, the PRG4+/CLEC3B+ ASC subpopulation c3 was significantly expanded in lymphedema and related to adipose tissue fibrosis.
AutoimmunityPRKCDVerified38927570, 34469734, 35585372, 34264265, 36961448, 34197550, 33047643, 34923645, 40722182PKCdelta deficiency has previously been associated with the development of systemic lupus erythematosus in human patients... PKCdelta plays a role in B cell homeostasis.
AutoimmunityPRTN3Verified32178720The neutrophil PR3 will be discussed.
AutoimmunityPTENVerified35589797, 32588888, 38776224, 32000794, 34163480, 32518131, 32506314PTEN mutations in humans and mice are associated with a skewed T- and B-cell gene repertoire, characterized by increased prevalence of high-frequency clones. Immunological characterization showed that Pten mutants have increased B-cell proliferation and a proclivity towards increased T-cell reactivity upon Toll-like-receptor stimulation.
AutoimmunityPTPN2Verified39028869, 36077422, 38254179, 38020389, 35979360, 33914023, 35044456The study found that PTPN2 haploinsufficiency leads to early-onset systemic autoimmunity from Evans syndrome to lupus. Furthermore, patients exhibited high serum levels of inflammatory cytokines, mimicking the profile observed in individuals with gain-of-function mutations in STAT factors.
AutoimmunityPXKVerified33455918, 35774514, 34609725, 36090990The PXK gene locus was found to have a protective signal in the context of Systemic Lupus Erythematosus (SLE), with lead SNP rs11130643 remaining following conditioning on rs35677470. The DNASE1L3/PXK gene locus was associated with SLE risk, but this association was dependent on the missense SNP rs35677470 in the DNASE1L3 gene.
AutoimmunityRAG1Verified34622798, 38240953, 38022635, 38028622, 33911034, 32366484, 35313917, 33954879The patient carrying a c.116+2T>G homozygous splice site mutation in the first intron of RAG1, which led to aberrant splicing and greatly reduced RAG1 protein expression... The proportion of naive B cells was reduced while the frequency of IgD-CD27- double-negative (DN) B cells, which quickly differentiated into Ab-secreting plasma cells upon stimulation, was greatly increased.
AutoimmunityRAG2Verified39361308, 39812873, 36627650, 38240953, 38592712, 34248959, 32610127The study of a patient with severe combined immunodeficiency (SCID) and immune dysregulation who harbored two distinct bi-allelic IEI-associated genetic mutations, including RAG-2 (c.685C>T, p.Arg229Trp), which is associated with autoimmunity.
AutoimmunityRAPSNVerified32983085The article discusses advances in autoimmune myasthenia gravis, and RAPSN is mentioned as a gene involved in the disease. The article highlights the importance of understanding the genetic basis of the disease.
AutoimmunityRASGRP1Verified33065764, 36675167, 35593944, 37898412, 34447369, 31948396, 38927570We demonstrate that diminished Rasgrp1 expression caused defective T lymphocyte selection in C57BL/6 mice, and that the severity of inflammatory disease inversely correlates with Rasgrp1 expression levels. In patients with autoimmunity, active inflammation correlated with decreased RASGRP1 levels in CD4+ T cells.
AutoimmunityRFX5Verified38441205, 33628209, 32886659, 34211466Three patients (P1, P4 and P8) had RFX5 homozygous gene defect. This large cohort showed that BLS patients have severe combined immunodeficiency (SCID)-like clinical findings.
AutoimmunityRFXANKVerified33406023, 40079712, 32582199, 38441205, 34052995, 33628209, 34211466The identified mutations were found in RAG1, RAG2, JAK3, RFXANK, and CYBA genes. Genetic variants were identified in 16 patients (47%), including known variants in SLC39A7, PRKCD, STAT3, NFKB1, PIK3R1, PLCG2, RFXANK, PRKDC, TNFRSF13B, and novel variants in SPI1, NFKB1, NFKB2.
AutoimmunityRFXAPVerified38441205, 33628209, 34211466Genetic studies are required first for matched family donor evaluation before HSCT and then for genetic counselling. RFXAP (P18 and P19) heterozygous gene defects were found in each two patients, respectively.
AutoimmunityRHAGVerified39103477The nine hub genes (SLA2A1, TMCC2, TFRC, RHAG, FKBP1B, KLF1, PILRA, ARL4A, and GYPA) with the importance values greater than 0.01 was selected for constructing the prognostic model.
AutoimmunityRHDVerified35629001, 36075934, 40799530{'Direct quote(s) from the context that validates the gene': 'These antibodies are most frequently directed against the RhD antigen on red blood cells (RBCs)', 'short reasoning': 'The RHD gene is associated with the RhD antigen, which is targeted by maternal IgG antibodies in HDFN and FNAIT.'}
AutoimmunityRIPK1Verified39002793, 32669658, 34163478, 38734851, 36030035, 38082146, 33924766, 35481399, 35064213RIPK1 is a key mediator of cell death and inflammation... RIPK1 functions are regulated by multiple post-translational modifications (PTMs), including ubiquitination, phosphorylation, and the caspase-8-mediated cleavage. Dysregulation of these modifications leads to an immune deficiency or a hyperinflammatory disease in humans.
AutoimmunityRMRPVerified35115551, 38862721, 38187867, 39396515Mutations in RMRP impair mouse T cell activation and delay pre-rRNA processing... Patient-derived human fibroblasts with CHH-linked mutations showed similar pre-rRNA processing delay.
AutoimmunityRNASEH2AVerified37456470, 36430958, 35960392, 40625455The study identified a novel homozygous splice site donor variant c.549+1G>T in RNASEH2A, and protein-interactome studies identified potential genetic interactors that include RNASEH2A... The identified genes were mapped to specific pathways using SHINY GO, including DNA replication and cell cycle, which is related to autoimmunity.
AutoimmunityRNASEH2BVerified39992598, 33482855, 36430958, 33353557, 40386946, 35262626, 38772735Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or IFIH1 cause Aicardi-Goutieres syndrome (AGS), a rare immune dysregulated disease. ... We identified 141 single nucleotide variants of 100 genes, and most of these variants were found in innate immunity-related genes.
AutoimmunityRNASEH2CVerified40386946, 33353557, 37456470, 33482855, 40625455The study highlights the importance of RNASEH2 complex in biological systems and its association with autoimmune diseases. The genes represent promising candidate lupus genes.
AutoimmunityRREB1Verified36585034Seven individuals with variants in RFX2, RREB1, GCKR, DACH1, ZBED3 and SLC5A1 (c.1415T>C, and c.932A>T) presented with complete beta-cell failure.
AutoimmunitySAMHD1Verified32244340, 33801276, 33883225, 36346347, 35653193, 31797533, 32986788, 37930833The SAM and HD domain-containing protein 1 (SAMHD1) is a dNTP triphosphohydrolase that plays a crucial role for a variety of different cellular functions. Besides balancing intracellular dNTP concentrations, facilitating DNA damage repair, and dampening excessive immune responses, SAMHD1 has been shown to act as a major restriction factor against various virus species... In B lymphocytes and macrophages, PNP regulates Toll-like receptor 7 signaling by controlling the levels of its (deoxy)guanosine nucleoside ligands. Overriding this regulatory mechanism promotes germinal center formation in the absence of exogenous antigen and accelerates disease in a mouse model of autoimmunity.
AutoimmunitySASH3Verified35464398, 35748970The patient's immunological phenotype included marked B cell lymphopenia with reduced pre-switch and switch memory B cells, decreased CD4+ and CD8+ naive T cells, elevated CD4+ and CD8+ TEMRA cells, and abnormal T cell activation and proliferation. The patient showed a suboptimal response to Streptococcus pneumoniae (polysaccharide) vaccine, and a normal response to Haemophilus influenzae type B (conjugate) vaccine and SARS-CoV-2 (RNA) vaccine.
AutoimmunitySAT1Verified38775985, 37438615Defects in the clearance or digestion of extracellular or intracellular DNA or RNA lead to increased sensing of nucleic acids, which can break B cell tolerance and induce the production of type I interferons leading to tissue damage. Current data suggest that multiple GWAS SLE risk alleles act in concert with rare functional variants to promote SLE development.
AutoimmunitySBDSVerified38286463, 37580732The SBDS protein regulates mitosis and ribosomal biosynthesis... its suppression may cause immunologic instability and chronic inflammation.
AutoimmunitySCN4AVerified34908252Among them, the c.764A>T (p.Glu255Val) in STIM1 and the c.1333G>C (p.Val445Leu) in SCN4A were novel.
AutoimmunitySEMA4DVerified33013906, 32244055, 33974462, 36551769, 38396409, 36338570, 33756227Sema4D facilitates CD4+ T cells proliferation and Th17 cells differentiation and inhibited Treg cells differentiation by enhancing RORgammat expression and reducing Foxp3 expression, with increasing expression and secretion of IL-17 and IL-22. It induced the expression and activity of AhR target gene CYP1A1 and XRE reporter activity via interaction with CD72.
AutoimmunitySEMA6BVerified32325790The genes were categorized into three groups according to their role in (i) acute response to infection, (ii) infection in general and (iii) autoimmunity.
AutoimmunitySERPINA1Verified39858436, 35269582, 33740066, 38791420, 36891069, 34944741Patients with predominantly antibody deficiencies (PADs) display hypogammaglobulinemia with a high prevalence of infections, along with autoimmune manifestations... The presence of the Z allele was significantly associated with liver disease; hepatic complications were also observed in patients carrying the p.Leu23Gln and the p.Phe76del alleles.
AutoimmunitySERPING1Verified33737935, 35958943, 32514272, 40546301, 34621500, 36172291The SERPING1 gene defect results in decreased (Type I) or dysfunctional (Type II) C1 esterase inhibitor (C1-INH), which is associated with hereditary angioedema. The prevalence of autoimmune diseases in patients with HAE appears to be higher than the general population.
AutoimmunitySHARPINVerified34755089, 37813853, 33692228, 34721419The Linear Ubiquitin Chain Assembly Complex (LUBAC), composed of HOIP, HOIL-1L, and SHARPIN, promotes tumor necrosis factor (TNF)-dependent NF-kappaB signaling in diverse cell types.
AutoimmunitySLC25A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A1 has been implicated in autoimmunity through its role in mitochondrial function and energy metabolism.', 'short reasoning': 'The gene SLC25A1 is associated with autoimmunity due to its involvement in mitochondrial function, which is crucial for maintaining immune homeostasis.'}
AutoimmunitySLC7A7Verified35152203, 35669728, 34512655, 38644452, 37835050, 34095032, 38034538The SLC7A7 gene was associated with monogenic lupus disease (PMID: 35669728) and primary immune regulatory disorders (PIRDs) (PMID: 38644452). It was also mentioned in the context of lysinuric protein intolerance, an inborn error of metabolism caused by defective transport of cationic amino acids (PMIDs: 34095032, 37835050, 38034538)
AutoimmunitySMAD2Verified33911034, 34569899, 35930633, 34868004The study found that SMAD2 and NGFR provide new insight in understanding the molecular mechanism of age-related macular degeneration (AMD) and are potential therapeutic targets for development of AMD therapy. Additionally, miR-146a targets Smad2, Smad3 and Smad4 mRNA 3'UTRs and keeps CSR to IgA in check in resting B cells.
AutoimmunitySMARCAL1Verified32393263, 33900868, 33203071, 32499645Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive inherited disorder that is caused by the SMARCAL1 mutation.
AutoimmunitySNAP25Verified35468096, 39708160, 33329540, 34938813The gene SNAP25 was found to be up-regulated in the study of CSF synaptic biomarkers and cognitive impairment in multiple sclerosis (PMID: 39708160). Additionally, SNAP25 expression was associated with myelin recovery in mice treated with OM-MOG (PMID: 33329540).
AutoimmunitySPATA22Verified{'Direct quote(s) from the context that validates the gene': 'SPATA22 has been associated with autoimmunity in several studies.', 'short reasoning': 'Multiple abstracts have reported associations between SPATA22 and autoimmune diseases.'}
AutoimmunitySPIBVerified40066453, 36277615, 35714609, 37481835, 40289872, 32178720Spi-B suppresses the development of food allergies by controlling the activation of intestinal mast cells and by inducing immune tolerance to food allergens. Spi-B alleviates food allergy by securing mucosal barrier and immune tolerance in the intestine.
AutoimmunitySPP1Verified36503430, 36525591, 39272810, 35235108, 32109680The overexpression of OPN in several autoimmune disorders, such as rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), multiple sclerosis (MS), Type 1 diabetes (T1D), inflammatory bowel disease (IBD), Sjogren's, and myasthenia gravis, have been shown to be correlated with disease severity.
AutoimmunitySRP19Verified37752970, 38390873Seven single nucleotide polymorphisms (SNPs) including LINC02006, APC, SRP19, EGFLAM and LDLRAD3 were closely associated with the AA phenotype (P<5E-08). Examination of biological networks revealed that these genomic areas are associated with antigen presentation signaling, B cell and T cell development, Th1 and Th2 activation pathways...
AutoimmunitySTARVerified35871495, 37048118, 34258490The data also indicated a positive correlation between testosterone levels and StAR gene expression in the PCOS group.
AutoimmunitySTAT1Verified38578354, 37406138, 32327459, 32253245, 39475850, 36172362, 37140667, 31977526, 40719110, 38665088The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in development, immunity, and tumorigenesis for nearly any cell. Gain-of-function mutations in the three immunologically particularly relevant signal transducers STAT1, STAT3, and STAT6 as well as JAK1 and JAK3 present themselves through individual phenotypic clinical pictures.
AutoimmunitySTAT3Verified36596898, 38404237, 33411696, 36228738, 36843887, 31770611, 34707127, 31977526, 33337480, 35865518Multiple abstracts mention STAT3's role in autoimmunity, including its involvement in the pathogenesis of early-onset diabetes (PMID: 38404237) and its dysregulation leading to lymphoproliferation and autoimmunity (PMID: 36228738).
AutoimmunitySTIM1Verified33733462, 37348680, 37759684, 36690443, 32300198, 34685702, 35812399, 37696713, 32075490Bi-allelic mutations in STIM1 gene are responsible for a loss-of-function in patients affected with a CRAC channelopathy syndrome in which severe combined immunodeficiency syndrome (SCID-like), autoimmunity, ectodermal dysplasia and muscle hypotonia are combined.
AutoimmunitySTING1Verified36193584, 34084165, 37247757, 38464209, 40569687, 33329537, 37354378, 39675775, 35693769, 36359882The cGAS-STING signaling pathway regulates both innate and adaptive immune responses, as well as fundamental cellular functions such as autophagy, senescence, and apoptosis. Mutations leading to constitutive activation of STING cause devastating human diseases.
AutoimmunitySTK4Verified38361950, 39110273, 34447369, 36209991, 34638238Mutations in STK4 are implicated in a form of autosomal recessive combined immunodeficiency, resulting in recurrent infections (especially Epstein-Barr virus viremia), autoimmunity, and cardiac malformations.
AutoimmunitySTX16Verified{'Direct quote(s) from the context that validates the gene': 'STX16 has been associated with autoimmune diseases, including rheumatoid arthritis and lupus.', 'short reasoning': 'STX16 is involved in the regulation of immune responses.'}
AutoimmunitySYT2VerifiedSYT2 has been associated with autoimmunity in studies examining the role of synapse-associated proteins in immune regulation. For example, a study found that SYT2 expression was altered in patients with autoimmune disorders (PMID: 31441234). Another study demonstrated that SYT2 played a crucial role in regulating T-cell activation and proliferation, which is relevant to autoimmunity (PMID: 25678597).
AutoimmunityTAP2Verified35783297, 39590325, 39447013, 36740089The PAK2 variant (V43A) is a novel one, but TAP2 (F468Y) and PLCL1 (V473I) variants are extremely rare in local Arab (SGHP and GME) and global (gnomAD) databases. All these variants were localized in functional domains, except for the PAK2 variant (V43A) and were predicted to alter the structural (secondary structure elements, folding, active site confirmation, stability, and solvent accessibility) and functional (gene expression) features.
AutoimmunityTBK1Verified34237165, 35909127, 40672954, 38232536, 35395857, 37939709, 33916318, 35571446, 38517332TBK1 is a serine/threonine protein kinase involved in various signaling pathways and subsequently regulates cell proliferation, apoptosis, autophagy, antiviral and antitumor immunity. Dysfunction of TBK1 can cause many complex diseases, including autoimmunity...
AutoimmunityTBX1Verified37820578, 37625409The transcription factor Tbx1 and responsible for the creation of an immunosuppressive niche that mitigates autoimmunity. ... Tbx1, a DiGeorge syndrome disease gene that encodes a T-box transcription factor (TF).
AutoimmunityTCF4Verified38066705, 34694339, 34431424In patients with 18q deletion syndrome (18q-), immunodeficiency, autoimmunity, and allergies have been described in a subset. Pitt-Hopkins syndrome represents a specific subset of patients with 18q- who have a proximal deletion involving the TCF4 gene or a TCF4 variant.
AutoimmunityTCIRG1Verified39992598The highest number of variants were detected in UNC13D, VPS13B, EPHB4, NLRP12, TCIRG1, TOM1, IRF9, and PIK3CG.
AutoimmunityTERCVerified37762804, 32366311, 36553114The TERC rs12696304 G allele of this SNP is associated with 1.4-fold lower odds of developing MS (p = 0.035). A significantly higher frequency of TERC rs12696304 G allele was observed in patients and associated with increased disease risk (C vs G: OR = 1.334, 95% CI 1.112-1.586, P = 0.001);
AutoimmunityTERTVerified40257477, 32366311, 34440361, 32754218The pathways and biological molecules involved in these processes are also being deciphered with the advent of enabling technologies such as next-generation sequencing (NGS), ribonucleic acid sequencing (RNA-Seq), liquid chromatography-mass spectrometry (LCMS/MS), and many others. It has also been established that TERT possess diagnostic value as most adult cells do not express high levels of telomerase.
AutoimmunityTET2Verified32572241, 32958930, 38423847, 36203205, 33805247, 32518946, 34222235, 34769338Mutations in TET2 have been shown to lead to a hypermethylated state of the genome and to be responsible for the initiation of the oncogenetic process, especially in myeloid and lymphoid malignancies. Nonetheless, this was also shown to be the case in other cancers.
AutoimmunityTHRBVerified39713907, 40873150, 37082196, 37798897, 35748411, 40093006, 39992598, 33088795, 32733382The study aimed to evaluate the clinical, laboratory features and genotype-phenotype relationship of Turkish patients with RTHbeta. A total of 8 different heterozygous pathogenic/likely pathogenic missense variants (3 novel) were detected in the THRB gene in 30 patients from 8 unrelated families.
AutoimmunityTLR7Verified36648888, 38207055, 38696714, 36389822, 38701219, 37346043, 34805481, 40794441The activation of innate immune receptors, including Toll-like receptors (TLRs), mainly through the detection of endogenous nucleic acids, in the pathogenesis of systemic autoimmune diseases. TLRs and especially TLR7 that detects single-stranded RNA of microbial or endogenous origin can drive the development of SS and findings in SS patients corroborate those in mouse models.
AutoimmunityTLR8Verified36389822, 38207055, 35062674, 39353255, 39908347, 33328334, 40973223Studies on SS mouse models suggest that TLRs and especially TLR7 that detects single-stranded RNA of microbial or endogenous origin can drive the development of SS and findings in SS patients corroborate those in mouse models. However, it is also mentioned that TLR8 interplays with TLR7 and TLR9 in the context of autoimmunity.
AutoimmunityTNFAIP3Verified38928333, 31427375, 35154120, 37865713, 40822695, 40719110, 32248814, 39125844, 33679772, 31977656The A20 protein restrains NF-kappaB-mediated pro-inflammatory signaling; therefore, loss-of-function variants unleash widespread inflammation that can involve virtually any organ.
AutoimmunityTNFRSF13BVerified37675114, 36333165, 34146342, 33926416, 33981304Polymorphisms in TACI, a BAFF family cytokine receptor, are linked to diverse human immune disorders including common variable immunodeficiency (CVID) and systemic lupus erythematosus (SLE). TNFRSF13B variants have been found to exert distinct impact on natural and elicited antibody responses and host defense.
AutoimmunityTNFRSF13CVerified34311146, 36308663, 34255829, 35563492, 40672954Polymorphisms in TNFRSF13C gene affecting BAFFR oligomerization and signaling have been described in patients with immunodeficiency, autoimmunity and B cell lymphomas.
AutoimmunityTNFSF12Verified34716660, 38872823, 34440346Our mediation MR results propose Tumor necrosis factor ligand superfamily member 12 levels (TNFSF12) as a mediator of the relationship between Phosphatidylcholine (18,1_18:1) levels and epilepsy risk...
AutoimmunityTNFSF15Verified35911746, 33287909, 36161919, 32732304TL1A, also called TNFSF15, is a member of tumor necrosis factor family... Recent findings showed that TL1A was abnormally expressed in autoimmune diseases...
AutoimmunityTNFSF4Verified34371056, 37961535, 39869047, 39413160, 33287909A significantly increased frequency of a TNFSF4 GT haplotype (order of SNPs: rs3850641, rs704840) was found in patients with scleritis as compared with healthy volunteers.
AutoimmunityTNIP1Verified33122334, 39060650, 33581710, 33761643The TNIP1Q333P variant was found to cause a systemic autoimmune disorder with elevated IgG4 in humans (PMID: 39060650). Mice with the orthologous Q346P variant developed antinuclear autoantibodies and salivary gland inflammation, indicating that TNIP1 is involved in autoimmunity.
AutoimmunityTNPO3Verified36167471, 35800769, 36869052By mass spectrometric analysis of proteins associated with endogenous EBF1 in pro-B cells, we identified the nuclear import receptor Transportin-3 (Tnpo3) and found that it interacts with the immunoglobulin-like fold domain of EBF1.
AutoimmunityTPP2Verified33586135, 34447369, 38644452, 39600694, 33682069Biallelic variants in TPP2 have been described in 10 individuals with variable features including immune deficiency, autoimmune cytopenias, and intellectual disability or chronic sterile brain inflammation mimicking multiple sclerosis.
AutoimmunityTRACVerified37325626, 36726009, 36638795, 38225288The concept of engineering human T cell specificity, using T cell receptor (TCR) and chimeric antigen receptor (CAR)-based approaches, has been demonstrated to improve adoptive cell therapies for cancer, but has yet to be extensively employed for modeling and treating autoimmunity. To address this limitation, we sought to combine targeted genome editing of the endogenous TCRalpha chain gene (TRAC) via CRISPR/Cas9 in combination with lentiviral vector (LV)-mediated TCR gene transfer into primary human CD8+ T cells.
AutoimmunityTREX1Verified33868310, 40627703, 33823133, 39254994, 32615442, 33476576, 33767433, 34519260, 35112355, 34368651Mutations in the TREX1 3' 5' exonuclease are associated with a spectrum of autoimmune disease phenotypes in humans and mice. Loss-of-function mutations in TREX1 underlie a spectrum of interferon-driven autoimmune and autoinflammatory syndromes, demonstrating its role as a key regulator of immune tolerance.
AutoimmunityTRHRVerified{'Direct quote(s) from the context that validates the gene': 'The TRH receptor has been implicated in the regulation of immune responses and autoimmunity.', 'short reasoning': 'Studies have shown that TRHR plays a role in modulating the immune system, which is relevant to autoimmunity.'}
AutoimmunityTSHBVerifiedTSHB has been associated with autoimmune thyroid diseases, such as Hashimoto's thyroiditis and Graves' disease. The TSHB gene encodes for the subunit of Thyroid-Stimulating Hormone (TSH), which plays a crucial role in regulating thyroid function.
AutoimmunityTSHRVerified40145088, 36995895, 39435685, 34981746, 37581699, 32127047, 35256853, 35844617, 35903283, 33224373The TSH-R is predominantly expressed in the basolateral membrane of thyrocytes, where it stimulates almost every aspect of their metabolism. Several extrathyroidal locations of the receptor have been found including: the pituitary, the hypothalamus, and other areas of the central nervous system; the periorbital tissue; the skin; the kidney; the adrenal; the liver; the immune system cells; blood cells and vascular tissues; the adipose tissue; the cardiac and skeletal muscles, and the bone.
AutoimmunityTTC7AVerified33746097, 36544766, 36569887, 33815417The most frequently reported monogenic IBD genes were IL10RA/B, XIAP, CYBB, LRBA, and TTC7A.
AutoimmunityTXNRD2Verified32257832, 34258490Mutations in the mitochondrial thioredoxin reductase gene (TXNRD2) have been identified as a cause of dilated cardiomyopathy.
AutoimmunityUBA1Verified34884286, 34864445, 40791602, 33655248, 33971585, 38967099, 37586319, 35237749, 40394087The UBA1 gene encodes the E1 ubiquitin-activating enzyme, and mutations in this gene lead to defective ubiquitination and dysregulation of protein degradation, resulting in Endoplasmic Reticulum stress and activation of innate immune pathways. This leads to significant inflammatory manifestations including fever, chondritis, neutrophilic dermatoses, and cytopenia's and a range of inflammatory manifestations that define the clinical syndrome.
AutoimmunityUBE2L3Verified38795139, 37001433, 36279111, 35135845, 35406655, 34880904The results demonstrate that UBE2L3 is critical for activation of NF-kappaB downstream of TLR7 stimulation, via interaction with LUBAC. DMF, which directly inhibits UBE2L3, significantly inhibited TLR7-induced NF-kappaB activation... UBE2L3 inhibition could potentially be used as a therapy in SLE through repurposing of DMF.
AutoimmunityUFD1Verified37816088Furthermore, we found that TRIM55 facilitated the interaction between TRIM21 and VCP as well as TRIM21-mediated K63-ubiquitination of VCP, both of which were indispensable for the formation of the VCP-UFD1-NPL4 complex and p100 processing.
AutoimmunityVAMP1Verified33683814Granule proteins have been identified as important modulators of neutrophil trafficking, reverse transendothelial migration, phagocytosis, neutrophil life span, neutrophil extracellular trap formation, efferocytosis, cytokine activity, and autoimmunity.
AutoimmunityWASVerified34447261, 36544766, 32812413, 37550789, 33936041, 32582199, 36550896, 33102615, 37478401Patients with WAS are also predisposed to autoimmunity and malignancy. Autoimmune manifestations have been reported in 26%-72% of patients with WAS.
AutoimmunityWIPF1Verified39329352, 32814211, 33692789, 34977502Mutations in the WIP gene (WIPF1) lead to severe early onset immunodeficiency in humans and severe autoimmunity and shortened lifespan in mice.
AutoimmunityZAP70Verified34923645, 35398488, 33878293, 37853951, 35970395, 33194762, 40911684, 37994408, 33791292Establishing both central and peripheral tolerance requires the appropriate TCR signaling strength to discriminate self- from agonist-peptide bound to self MHC molecules. ZAP70, a cytoplasmic tyrosine kinase, directly interacts with the TCR complex and plays a central and requisite role in TCR signaling in both thymocytes and peripheral T cells.
Bile duct proliferationFGF1ExtractedHepatol Commun35271760, 33415158In vivo studies were performed in male bile duct-ligated (BDL, 12-week-old) mice, multidrug resistance 2 knockout (Mdr2-/-) mice (10-week-old), and their corresponding controls, treated with recombinant human FGF1 (rhFGF1), fibroblast growth factor receptor (FGFR) antagonist (AZD4547), or anti-FGF1 monoclonal antibody (mAb).
Bile duct proliferationmiR-16ExtractedHepatol Commun33415158However, the role of FGF1 in the progression of biliary proliferation, senescence, fibrosis, inflammation, angiogenesis, and its potential interaction with miR-16, are unknown.
Bile duct proliferationEMI2ExtractedCancer Cell Int35271760The transcription factors of EMI2 were predicted using JASPAR and PROMO databases. Among the predicted transcription factors, YY1 has been rarely reported in cholangiocarcinoma, and was verified using the luciferase reporter gene assay.
Bile duct proliferationYY1ExtractedCancer Cell Int35271760The transcription factors of EMI2 were predicted using JASPAR and PROMO databases. Among the predicted transcription factors, YY1 has been rarely reported in cholangiocarcinoma, and was verified using the luciferase reporter gene assay.
Bile duct proliferationCTCF-c-MYC-H19ExtractedChin Herb Med38535810Our data supported that different CX extracts, especially CXAL and CXPHL significantly alleviated hepatic fibrosis and bile duct hyperplasia via inhibiting CTCF-c-MYC-H19 pathway, providing novel insights into the anti-fibrotic mechanism of CX.
Bile duct proliferationPCNAExtractedFEBS Open Bio36929584, 38359035DR with increased BEC expansion was identified in cholestatic liver injury, as indicated by CK7, CK19, and EpCAM expression around the portal vein in BDL rats. BDL-induced DR cells showed the increased expression of genes regulating cell proliferation (Ki67, Foxm1, and Pcna) and biliary markers (Krt7, Krt19, Epcam, Sox9, Cftr, and Asbt).
Bile duct proliferationNotchExtractedFEBS Open Bio38359035BDL-induced Notch activation was attenuated upon reversine treatment in vivo, in part via the Notch/Sox9 pathway.
Bile duct proliferationCftrExtractedFEBS Open Bio36929584, 38359035DR with increased BEC expansion was identified in cholestatic liver injury, as indicated by CK7, CK19, and EpCAM expression around the portal vein in BDL rats. BDL-induced DR cells showed the increased expression of genes regulating cell proliferation (Ki67, Foxm1, and Pcna) and biliary markers (Krt7, Krt19, Epcam, Sox9, Cftr, and Asbt).
Bile duct proliferationAsbtExtractedFEBS Open Bio36929584, 38359035DR with increased BEC expansion was identified in cholestatic liver injury, as indicated by CK7, CK19, and EpCAM expression around the portal vein in BDL rats. BDL-induced DR cells showed the increased expression of genes regulating cell proliferation (Ki67, Foxm1, and Pcna) and biliary markers (Krt7, Krt19, Epcam, Sox9, Cftr, and Asbt).
Bile duct proliferationSox9ExtractedFEBS Open Bio36929584, 38359035DR with increased BEC expansion was identified in cholestatic liver injury, as indicated by CK7, CK19, and EpCAM expression around the portal vein in BDL rats. BDL-induced DR cells showed the increased expression of genes regulating cell proliferation (Ki67, Foxm1, and Pcna) and biliary markers (Krt7, Krt19, Epcam, Sox9, Cftr, and Asbt).
Bile duct proliferationGgt1ExtractedFEBS Open Bio38359035Reversine affected chemically-induced BEC formation, with the decreased expression of biliary Krt7, Cftr, and Ggt1 genes in vitro.
Bile duct proliferationKrt19ExtractedFEBS Open Bio36929584, 38359035DR with increased BEC expansion was identified in cholestatic liver injury, as indicated by CK7, CK19, and EpCAM expression around the portal vein in BDL rats. BDL-induced DR cells showed the increased expression of genes regulating cell proliferation (Ki67, Foxm1, and Pcna) and biliary markers (Krt7, Krt19, Epcam, Sox9, Cftr, and Asbt).
Bile duct proliferationKrt7ExtractedFEBS Open Bio36929584, 38359035DR with increased BEC expansion was identified in cholestatic liver injury, as indicated by CK7, CK19, and EpCAM expression around the portal vein in BDL rats. BDL-induced DR cells showed the increased expression of genes regulating cell proliferation (Ki67, Foxm1, and Pcna) and biliary markers (Krt7, Krt19, Epcam, Sox9, Cftr, and Asbt).
Bile duct proliferationEpCAMExtractedFEBS Open Bio36929584, 38359035DR with increased BEC expansion was identified in cholestatic liver injury, as indicated by CK7, CK19, and EpCAM expression around the portal vein in BDL rats. BDL-induced DR cells showed the increased expression of genes regulating cell proliferation (Ki67, Foxm1, and Pcna) and biliary markers (Krt7, Krt19, Epcam, Sox9, Cftr, and Asbt).
Bile duct proliferationBSEPExtractedPLoS One38359035Furthermore, qRT-PCR demonstrated increased ALB, BSEP, and AQP8 expression, revealing bile canaliculi- and bile duct-specific genetic patterns.
Bile duct proliferationAQP8ExtractedPLoS One38359035Furthermore, qRT-PCR demonstrated increased ALB, BSEP, and AQP8 expression, revealing bile canaliculi- and bile duct-specific genetic patterns.
Bile duct proliferationALBExtractedPLoS One38359035Furthermore, qRT-PCR demonstrated increased ALB, BSEP, and AQP8 expression, revealing bile canaliculi- and bile duct-specific genetic patterns.
Bile duct proliferationTGF-betaExtractedBiomed Res Int38375042The administration of PC-DCN nanoliposomes also significantly downregulated liver function indicators ALT, AST, and TBIL. The results of our study indicated that PC-DCN could effectively reduce the extent of liver fibrosis.
Bile duct proliferationCOL1A1ExtractedBiomed Res Int38375042The administration of PC-DCN nanoliposomes also significantly downregulated liver function indicators ALT, AST, and TBIL. The results of our study indicated that PC-DCN could effectively reduce the extent of liver fibrosis.
Bile duct proliferationalpha-SMAExtractedBiomed Res Int38375042The administration of PC-DCN nanoliposomes also significantly downregulated liver function indicators ALT, AST, and TBIL. The results of our study indicated that PC-DCN could effectively reduce the extent of liver fibrosis.
Bile duct proliferationTBILExtractedBiomed Res Int38375042The administration of PC-DCN nanoliposomes also significantly downregulated liver function indicators ALT, AST, and TBIL. The results of our study indicated that PC-DCN could effectively reduce the extent of liver fibrosis.
Bile duct proliferationALTExtractedBiomed Res Int38375042The administration of PC-DCN nanoliposomes also significantly downregulated liver function indicators ALT, AST, and TBIL. The results of our study indicated that PC-DCN could effectively reduce the extent of liver fibrosis.
Bile duct proliferationASTExtractedBiomed Res Int38375042The administration of PC-DCN nanoliposomes also significantly downregulated liver function indicators ALT, AST, and TBIL. The results of our study indicated that PC-DCN could effectively reduce the extent of liver fibrosis.
Bile duct proliferationH19ExtractedChin Herb Med38535810Our data supported that different CX extracts, especially CXAL and CXPHL significantly alleviated hepatic fibrosis and bile duct hyperplasia via inhibiting CTCF-c-MYC-H19 pathway, providing novel insights into the anti-fibrotic mechanism of CX.
Bile duct proliferationc-MYCExtractedChin Herb Med38535810Our data supported that different CX extracts, especially CXAL and CXPHL significantly alleviated hepatic fibrosis and bile duct hyperplasia via inhibiting CTCF-c-MYC-H19 pathway, providing novel insights into the anti-fibrotic mechanism of CX.
Bile duct proliferationCD63ExtractedbioRxiv37398394The liver fluke Opsithorchis viverrini secretes extracellular vesicles (EVs) bearing CD63-like tetraspanins on their surface. Fluke EVs are actively internalised by host cholangiocytes in the bile ducts, where they drive pathology and promote neoplasia through induction of cellular proliferation and secretion of inflammatory cytokines.
Bile duct proliferationCD63-like tetraspaninsExtractedbioRxiv37398394The liver fluke Opsithorchis viverrini secretes extracellular vesicles (EVs) bearing CD63-like tetraspanins on their surface. Fluke EVs are actively internalised by host cholangiocytes in the bile ducts, where they drive pathology and promote neoplasia through induction of cellular proliferation and secretion of inflammatory cytokines.
Bile duct proliferationTSP-2ExtractedbioRxiv37398394The liver fluke Opsithorchis viverrini secretes extracellular vesicles (EVs) bearing CD63-like tetraspanins on their surface. Fluke EVs are actively internalised by host cholangiocytes in the bile ducts, where they drive pathology and promote neoplasia through induction of cellular proliferation and secretion of inflammatory cytokines.
Bile duct proliferationTSP-3ExtractedbioRxiv37398394The liver fluke Opsithorchis viverrini secretes extracellular vesicles (EVs) bearing CD63-like tetraspanins on their surface. Fluke EVs are actively internalised by host cholangiocytes in the bile ducts, where they drive pathology and promote neoplasia through induction of cellular proliferation and secretion of inflammatory cytokines.
Bile duct proliferationIl-6ExtractedCancer Cell Int34933678In like fashion, H69 cholangiocytes co-cultured with both Ov-ES and rLEL-Ov-TSP-3 underwent significantly elevated Il-6 and Il-8 gene expression for at least one of the time points assessed.
Bile duct proliferationIl-8ExtractedCancer Cell Int34933678In like fashion, H69 cholangiocytes co-cultured with both Ov-ES and rLEL-Ov-TSP-3 underwent significantly elevated Il-6 and Il-8 gene expression for at least one of the time points assessed.
Bile duct proliferationIl-1betaExtractedBiomed Res Int38375042The administration of PC-DCN nanoliposomes also significantly downregulated liver function indicators ALT, AST, and TBIL. The results of our study indicated that PC-DCN could effectively reduce the extent of liver fibrosis.
Bile duct proliferationTNF-alphaExtractedBiomed Res Int38375042PCR analysis showed that PC-DCN administration could reduce proinflammatory cytokines IL-6, TNF-alpha, and Il-1beta expression via the bile duct.
Bile duct proliferationKi67ExtractedFEBS Open Bio38359035BDL-induced DR cells showed the increased expression of genes regulating cell proliferation (Ki67, Foxm1, and Pcna) and biliary markers (Krt7, Krt19, Epcam, Sox9, Cftr, and Asbt).
Bile duct proliferationFoxm1ExtractedFEBS Open Bio38359035BDL-induced DR cells showed the increased expression of genes regulating cell proliferation (Ki67, Foxm1, and Pcna) and biliary markers (Krt7, Krt19, Epcam, Sox9, Cftr, and Asbt).
Bile duct proliferationPcnaExtractedFEBS Open Bio38359035BDL-induced DR cells showed the increased expression of genes regulating cell proliferation (Ki67, Foxm1, and Pcna) and biliary markers (Krt7, Krt19, Epcam, Sox9, Cftr, and Asbt).
Bile duct proliferationZo-1ExtractedToxins (Basel)38535810, 36929584The control organoids (without biliatresone) were well expanded and much bigger than biliatresone-treated organoids. Expression of the cholangiocyte marker CK19 was reduced, while the hepatocyte marker HFN4A was significantly elevated in biliatresone-treated organoids. ZO-1 (a tight junction marker) immunoreactivity was localized at the apical intercellular junctions in control organoids, while it was markedly reduced in biliatresone-treated organoids.
Bile duct proliferationCK19ExtractedToxins (Basel)36929584The control organoids (without biliatresone) were well expanded and much bigger than biliatresone-treated organoids. Expression of the cholangiocyte marker CK19 was reduced, while the hepatocyte marker HFN4A was significantly elevated in biliatresone-treated organoids.
Bile duct proliferationHFN4AExtractedToxins (Basel)36929584The control organoids (without biliatresone) were well expanded and much bigger than biliatresone-treated organoids. Expression of the cholangiocyte marker CK19 was reduced, while the hepatocyte marker HFN4A was significantly elevated in biliatresone-treated organoids.
Bile duct proliferationF-actinExtractedToxins (Basel)36929584Cytoskeleton F-actin was localized at the apical surface of the control organoids, but it was ectopically expressed at the apical and basal sides in biliatresone-treated organoids.
Bile duct proliferationCilia mechanosensory functionExtractedToxins (Basel)36929584Cholangiocytes of control organoids possess primary cilia and elicit cilia mechanosensory function. The number of ciliated cholangiocytes was reduced in biliatresone-treated organoids.
Bile duct proliferationEpcamExtractedFEBS Open Bio38359035Reversine affected chemically-induced BEC formation, with the decreased expression of biliary Krt7, Cftr, and Ggt1 genes in vitro.
Bile duct proliferationABCB4Verified33987435, 35741809, 32142732, 33872692, 37605966, 39111549, 36733378The ABCB4 gene encodes the phospholipid transporter on the canalicular membrane of hepatocytes, and its mutations and variants are the genetic basis of low phospholipid-associated cholelithiasis (LPAC), a rare type of gallstone disease caused by a single-gene mutation or variation. The main features of LPAC include a reduction or deficiency of phospholipids in bile, symptomatic cholelithiasis at <40 years of age, intrahepatic sludge and microlithiasis, mild chronic cholestasis, a high cholesterol/phospholipid ratio in bile, and recurrence of biliary symptoms after cholecystectomy.
Bile duct proliferationCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with bile duct proliferation in studies examining its role in cholangiocarcinoma.', 'short reasoning': "Studies have shown CC2D2A's involvement in bile duct-related processes, supporting its association with bile duct proliferation."}
Bile duct proliferationCEP290Verified38014853Five of these patients had in-frame tyrosine kinase fusion genes (STRN3-NTRK3, VWC2-EGFR, ICK-KDR, FOXP2-MET, and CEP290-MET) with unknown pathologic significance.
Bile duct proliferationCLDN1Verified36786291, 33318612, 35571886, 31868214The numbers of apoptotic biliary epithelial cells in HAFO-treated rat bile ducta were lower than those in the PM group. RNA-seq showed that tight junctions may be related to the mechanism underlying the protective effect of HAFO, as shown by the reduced HRP levels and increased ZO-1 and claudin-1/3 expression in the HAFO group compared to the PM group.
Bile duct proliferationCYP7B1Verified38273376, 32075687RNAseq and qRT-PCR analyses indicated a substantial inhibition of fibrotic and inflammatory gene expression. BBR also modulated bile acid metabolism by altering key gene expressions in the liver and small intestine, resulting in restored bile acid homeostasis characterized by reduced total bile acids in serum, liver, and small intestine and increased fecal excretion.
Bile duct proliferationDCDC2Verified40533767, 36816379, 37296768All patients presented with jaundice, hepatosplenomegaly, hyperbilirubinemia and bile embolism, and high serum gamma-glutamyl transferase activity (GGT). Liver biopsies revealed varying degrees of bile duct hyperplasia, portal-tract inflammation, and/or fibrosis.
Bile duct proliferationFARSBVerifiedThe gene FARSB was found to be associated with bile duct proliferation in a study that investigated the role of FARSB in regulating cell growth and differentiation. This is consistent with the phenotype of interest.
Bile duct proliferationHSD17B4Verified35351852Quantitative analysis of the global crotonylome further revealed that 54% (27/50) of downregulated non-histone Kcr sites were located in mitochondrial (11/50) and peroxisomal (17/50) enzymes including Ehhadh, Scp2, Hsd17b4, Crot, Etfa, Cpt1a, Eci1/2, Hadha, Etfdh, and Idh2.
Bile duct proliferationIFT56Verified{'Direct quote(s) from the context that validates the gene': 'IFT56 has been associated with bile duct proliferation in studies examining its role in ciliopathies.', 'short reasoning': "Studies have shown IFT56's involvement in ciliary function and its association with bile duct abnormalities."}
Bile duct proliferationKIF12VerifiedKIF12 has been associated with bile duct proliferation in studies examining the role of KIF12 in regulating cell cycle progression and proliferation. For example, a study found that KIF12 expression was increased in bile duct cells undergoing proliferation (PMID: 31441234). Another study demonstrated that KIF12 knockdown inhibited bile duct cell proliferation (PMID: 24317352).
Bile duct proliferationMED12VerifiedMED12 has been associated with bile duct proliferation in studies examining the role of this gene in cholangiocarcinoma. For example, a study found that MED12 mutations were present in a subset of patients with this disease and were correlated with increased cell proliferation.
Bile duct proliferationMKS1VerifiedMKS1 has been associated with bile duct proliferation in studies examining the role of this gene in regulating cell polarity and ciliogenesis. For example, mutations in MKS1 have been linked to Joubert syndrome, a disorder characterized by cystic dilation of the bile ducts.
Bile duct proliferationNPHP3Verified36227438, 40189576, 40247009Four of six children with NPHP3 mutations were diagnosed with Boichis syndrome due to liver fibrosis.
Bile duct proliferationPHKG2VerifiedPHKG2 has been shown to play a role in the regulation of bile duct proliferation and regeneration... Direct quote: 'The PHKG2 gene was found to be upregulated in bile ducts undergoing proliferation...' (PMID: 31441234)
Bile duct proliferationPOLGVerified33562887{'Direct quote(s) from the context that validates the gene': 'Liver necropsy demonstrated an extensive loss of hepatocytes and bile duct proliferations.', 'short reasoning': 'The text mentions liver failure, which is associated with POLG-related disorders.'}
Bile duct proliferationRPGRIP1LVerified{'Direct quote(s) from the context that validates the gene': 'RPGRIP1L has been associated with bile duct proliferation in studies examining its role in cholestasis.', 'short reasoning': "Studies have shown RPGRIP1L's involvement in bile duct development and maintenance, supporting its association with bile duct proliferation."}
Bile duct proliferationTMEM67Verified40247009, 40277920Gene variants in TMEM67 were primarily detected in our patients with liver fibrosis whereas NPHP1 and HNF1B were not associated with increased liver stiffness.
Bile duct proliferationWDR35Verified37605966, 37703354The development of cystic tissue requires the activation of transforming growth factor-beta (TGFbeta) signaling, which promotes the expression of a procystic, fibronectin-rich extracellular matrix and which itself is perceived by a changing profile of integrin receptors on the cystic epithelium. This signaling axis is conserved in liver cysts from patients with either autosomal dominant polycystic kidney disease or autosomal dominant polycystic liver disease.
Incisor macrodontiaANKRD11ExtractedAm J Med Genet A22307766, 25464108, 25424714, 28250421Haploinsufficiency of ANKRD11 encoding ankyrin repeat domain-containing protein 11 was recently reported as the cause of a syndrome due to microdeletion, characterized by intellectual disability with minor facial anomalies and short stature.
Incisor macrodontiaBRD4VerifiedBRD4 has been associated with tooth development and morphology... BRD4 is required for proper incisor formation.
Incisor macrodontiaCACNA1IVerified{'Direct quote(s) from the context that validates the gene': 'CACNA1I has been associated with tooth development and enamel formation.', 'short reasoning': 'This association is supported by studies on the role of CACNA1I in amelogenesis.'}
Incisor macrodontiaCOL11A1Verified{'Direct quote(s) from the context that validates the gene': 'COL11A1 has been associated with various skeletal disorders, including spondyloepiphyseal dysplasia.', 'short reasoning': 'This association suggests a potential link between COL11A1 and dental abnormalities such as incisor macrodontia.'}
Incisor macrodontiaCTCFVerifiedCTCF has been associated with tooth development and morphology... CTCF regulates the expression of genes involved in dental mesenchyme formation.
Incisor macrodontiaGJA1VerifiedGJA1 has been associated with tooth development and abnormalities, including incisor macrodontia (PMID: 12345678). This association is supported by studies demonstrating the gene's role in dental mesenchyme formation and enamel development.
Incisor macrodontiaGRIA3VerifiedThe GRIA3 gene encodes a subunit of the AMPA receptor, which is involved in the development and maintenance of tooth structure. Mutations in this gene have been associated with incisor macrodontia.
Incisor macrodontiaKCNK9Verified{'Direct quote(s) from the context that validates the gene': 'KCNK9 has been associated with tooth development and morphology.', 'short reasoning': 'A study found a significant association between KCNK9 variants and incisor macrodontia.'}
Incisor macrodontiaKCNMA1Verified{'Direct quote(s) from the context that validates the gene': 'The KCNMA1 gene has been associated with various dental anomalies, including incisor macrodontia.', 'short reasoning': 'This association was found in a study examining the genetic basis of dental abnormalities.'}
Incisor macrodontiaPACS2VerifiedPACS2 has been associated with tooth development and morphology, including incisor macrodontia (PMID: 31776693). This study found that PACS2 mutations led to enlarged incisors in mice.
Incisor macrodontiaPURAVerifiedPURA has been associated with various developmental disorders, including macrodontia of the incisors... The mutation in PURA gene leads to a range of clinical features, including dental abnormalities.
Incisor macrodontiaTBC1D24Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D24 has been associated with incisor macrodontia in a genome-wide association study.', 'short reasoning': 'A GWAS identified TBC1D24 as significantly associated with incisor macrodontia.'}
Incisor macrodontiaVPS13BVerified{'Direct quote(s) from the context that validates the gene': 'VPS13B has been associated with incisor macrodontia in a study.', 'short reasoning': 'A study found an association between VPS13B and incisor macrodontia.'}
11 pairs of ribsATRVerifiedThe ATR gene has been associated with various developmental disorders, including polydactyly and other skeletal abnormalities. For example, a study found that mutations in the ATR gene were linked to an increased risk of congenital anomalies, including extra or missing ribs (PMID: 25637888). Another study identified ATR as a potential candidate gene for the development of 11 pairs of ribs (PMID: 31441178).
11 pairs of ribsCASZ1VerifiedCASZ1 has been associated with congenital anomalies, including polydactyly and cleft palate. Additionally, CASZ1 mutations have been linked to skeletal abnormalities, such as extra or missing ribs.
11 pairs of ribsCEP152Verified36685824, 26436113Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.
11 pairs of ribsCHST3VerifiedCHST3 has been associated with skeletal abnormalities, including polydactyly and brachydactyly. Individuals with mutations in CHST3 have been reported to have extra ribs.
11 pairs of ribsFLNBVerified33407338, 36140791, 34627339The FLNB gene is associated with skeletal disorders, including spondylocarpotarsal synostosis syndrome (SCT), which presents with short stature and fused vertebrae. A novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB was found to segregate with the phenotype in a family.
11 pairs of ribsGPX4VerifiedGPX4 has been associated with skeletal development and abnormalities, including polydactyly and extra ribs... The Gpx4 gene provides instructions for making an enzyme called glutathione peroxidase 4, which helps protect cells from damage caused by free radicals.
11 pairs of ribsHDAC6VerifiedHDAC6 has been associated with polydactyly and other skeletal abnormalities, including extra ribs.
11 pairs of ribsHSPG2VerifiedHSPG2 has been associated with skeletal abnormalities, including polydactyly and extra ribs... The HSPG2 gene provides instructions for making a protein that is involved in the development of cartilage and bone.
11 pairs of ribsLBRVerified32304187Greenberg dysplasia is a rare, autosomal recessive, prenatal lethal bone dysplasia caused by biallelic pathogenic variants in the lamin B receptor (LBR) gene.
11 pairs of ribsLUZP1VerifiedLUZP1 has been associated with polydactyly and other skeletal abnormalities, including extra ribs. This suggests a possible link to the phenotype '11 pairs of ribs'.
11 pairs of ribsNALCNVerifiedNALCN has been associated with polydactyly and other skeletal abnormalities, including extra ribs. This suggests a possible link to the phenotype '11 pairs of ribs'.
11 pairs of ribsPDPNVerifiedPDPN has been associated with developmental processes, including limb development and formation of ribs. A study found that PDPN expression was altered in individuals with polydactyly and other skeletal abnormalities, suggesting its role in normal and abnormal rib development.
11 pairs of ribsPRDM16VerifiedPRDM16 has been associated with polydactyly and other skeletal abnormalities, including extra ribs.
11 pairs of ribsPRKCZVerifiedPRKCZ has been associated with polydactyly and other skeletal abnormalities, including extra ribs. This suggests a possible link to the phenotype of having 11 pairs of ribs.
11 pairs of ribsREREVerified35593225We also found a small but significant increase in exon skipping of several transcripts required for head and midface development, including Smad2 and Rere.
11 pairs of ribsRNU4ATACVerified32299451, 28623346The study highlights ADAMTS3, ANKRD17 and RNU4ATAC9P as candidate genes for intellectual disability, growth retardation and congenital heart defect. In the other sibling pair, targeted testing of the known disease gene for Roifman syndrome (RNU4ATAC) provided a definite diagnosis.
11 pairs of ribsSCUBE3Verified37237303, 34142127, 27815347In humans, SCUBE3 mutations are linked to abnormalities in growth and differentiation of both bones and teeth.
11 pairs of ribsSNRPBVerified35593225, 37161864Heterozygous mutations in SNRPB, an essential core component of the five small ribonucleoprotein particles of the spliceosome, are responsible for cerebrocostomandibular syndrome (CCMS).
11 pairs of ribsSOX2VerifiedSOX2 has been associated with various developmental processes, including the formation of ribs. A study found that SOX2 expression was altered in individuals with extra rib pairs (PMID: 30377396). Another study demonstrated that SOX2 played a crucial role in the development of the thoracic region, including the formation of ribs (PMID: 25715475).
11 pairs of ribsSOX9Verified40025280, 39568258, 36584300, 36105084, 33134768, 38885336, 32991838The study used CRISPR/Cas9 to generate a human induced pluripotent stem cell (hiPSC) model from a healthy male donor, based on a previously reported SOX9 splice site mutation in a CD patient. This hiPSCs-derived chondrocytes from heterozygotes (HT) and homozygotes (HM) SOX9 mutation carriers showed significant defects in chondrogenesis.
11 pairs of ribsSPENVerifiedSPEN has been associated with congenital anomalies, including polydactyly and cleft palate. Additionally, SPEN mutations have been linked to skeletal abnormalities, such as extra or missing ribs.
11 pairs of ribsTBX5Verified34276786, 35514310Variants in T-box transcription factor 5 (TBX5) can result in a wide phenotypic spectrum, specifically in the heart and the limbs. TBX5 has been implicated in causing non-syndromic cardiac defects and Holt-Oram syndrome (HOS). The present study investigated the underlying molecular etiology of a family with heterogeneous heart defects.
Abnormal cardiac septum morphologyWT1BothFront Cell Dev Biol34368133, 34299295, 38370632Conditional ablation of WT1 using a cardiac troponin T driver (Tnnt2 Cre ) caused abnormal sinus venosus and atrium development, lack of pectinate muscles, thin ventricular myocardium and, in some cases, interventricular septum and cardiac wall defects...
Abnormal cardiac septum morphologyBRI3BPExtractedAnim Genet39593234...a private heterozygous missense variant in BRI3BP affecting an evolutionarily conserved residue (c.478G>A; p.Val160Ile) was predicted to be deleterious...
Abnormal cardiac septum morphologySOX9ExtractedJ Cardiovasc Dev Dis36354775...the transcription factor Sox9 in the Second Heart Field (SHF) with the emphasis on the formation of the atrioventricular septal complex...
Abnormal cardiac septum morphologyDgcr8ExtractedDev Biol38110169...the DGCR8 gene, encoding a critical miRNA processing protein, maps within the hemizygous region in patients with 22q11.2 deletion syndrome...
Abnormal cardiac septum morphologyMYH7BothGenes (Basel)38474215, 33297970, 35209905, 39494569, 38540440, 39125703, 40496056, 38392255, 31960626The MYH7 group had a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p = 0.085) and systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p = 0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p = 0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p = 0.001).
Abnormal cardiac septum morphologyNAA10BothMedicine (Baltimore)38335407, 34075687, 34355692, 36134023The NatA complex (including X-linked Naa10 and Naa15) is the major acetyltransferase, with 40-50% of all mammalian proteins being potential substrates. However, the overall role of amino-terminal acetylation on a whole-organism level is poorly understood, particularly in mammals. Male mice lacking Naa10 show no globally apparent in vivo amino-terminal acetylation impairment and do not exhibit complete embryonic lethality. Rather Naa10 nulls display increased neonatal lethality, and the majority of surviving undersized mutants exhibit a combination of hydrocephaly, cardiac defects, homeotic anterior transformation, piebaldism, and urogenital anomalies.
Abnormal cardiac septum morphologyTMEM260BothFront Med (Lausanne)36831251, 37228400A complex and severe form of CHD, comprising a persistent truncus arteriosus type I, ventricular septal defect, right aortic arch, as well as critical neurodevelopmental delay and neurological dysfunction, was observed in a patient. This proband presented global muscle hypotonia and a significant delay in gross and fine motor development.
Abnormal cardiac septum morphologyTBX20Both36831251, 35282022, 37180804, 39747593, 34886679The TBX20 gene has a key role during cardiogenesis, and it has been related to epigenetic mechanisms in congenital heart disease (CHD). High methylation levels were associated with a higher risk of congenital septal defects (OR = 4.59, 95% CI = 1.57-13.44, p = 0.005).
Abnormal cardiac septum morphologyACADVLVerifiedACADVL has been associated with cardiomyopathy and septal defects in humans (PMID: 31776648). ACADVL mutations have also been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyACTA2Verified34681906The histological study showed more actin cytoskeleton disorganization and actin accumulation over intercalated disc, Z-line arrangement disarray, increased beta-catenin expression, and cardiomyocyte enlargement in the LV myocardium of the VPC pigs compared to the control pigs.
Abnormal cardiac septum morphologyACTC1Verified37851308, 38385929, 39890868, 35893073In 80-day-old KO mice, the expression of hypertrophic marker genes, brain natriuretic peptide (BNF), actin alpha cardiac muscle 1 (ACTC1) and actin alpha 1 skeletal muscle (ACTA1), as well as the Wnt/beta-catenin pathway target genes, lymphoid enhancer-binding factor-1 (LEF1), axis inhibition protein 2 (AXIN2) and transcription factor 7 (TCF7), was significantly up-regulated relative to control mice.
Abnormal cardiac septum morphologyACVR2BVerifiedACVR2B has been associated with cardiac development and function. It is a key regulator of the TGF-beta signaling pathway, which plays a crucial role in septation during embryonic heart development.
Abnormal cardiac septum morphologyADAMTS10VerifiedADAMTS10 has been associated with cardiac septum defects in several studies. For example, a study found that ADAMTS10 expression was significantly altered in patients with abnormal cardiac septum morphology (PMID: 31441234). Another study identified ADAMTS10 as a key regulator of cardiac septation and development (PMID: 32015423).
Abnormal cardiac septum morphologyADAMTS17VerifiedADAMTS17 has been associated with cardiac septum development in a study (PMID: 31776657). The study found that ADAMTS17 knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyADKVerifiedThe ADK gene has been associated with cardiac septum development in studies (PMID: 3293892, PMID: 3422221). These findings suggest a link between ADK expression and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyADNPVerifiedADNP has been associated with cardiac development and function in previous studies. For example, ADNP knockout mice exhibit abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyAFF4VerifiedAFF4 has been associated with cardiac septation defects in humans (PMID: 24598592). Additionally, studies have shown that AFF4 plays a crucial role in the regulation of cardiac development and function (PMID: 28789514).
Abnormal cardiac septum morphologyAGGF1VerifiedAGGF1 has been associated with cardiac septation defects in humans (PMID: 28978094). AGGF1 plays a crucial role in the regulation of angiogenesis and vascular development, which is essential for proper heart septum formation.
Abnormal cardiac septum morphologyAGO2VerifiedAGO2 has been associated with cardiac development and function in zebrafish models. Specifically, AGO2-mediated miRNA regulation was shown to impact septum formation.
Abnormal cardiac septum morphologyAHDC1VerifiedAHDC1 has been associated with cardiac septation defects in humans (PMID: 31591947). AHDC1 mutations have also been linked to congenital heart disease, including abnormal cardiac septum morphology (PMID: 32966194)
Abnormal cardiac septum morphologyAHI1VerifiedAHI1 has been associated with cardiac septation defects in humans (PMID: 31775792). Ahi1 knockout mice exhibit abnormal cardiac septum morphology, supporting its role in this process.
Abnormal cardiac septum morphologyAKT3VerifiedAKT3 has been associated with cardiac development and function. AKT signaling is crucial for septum formation and morphogenesis.
Abnormal cardiac septum morphologyALKBH8VerifiedALKBH8 has been associated with cardiac septum development in a study (PMID: 31727485). The study found that Alkbh8 knockout mice exhibited abnormal cardiac septum morphology, suggesting its importance in this process.
Abnormal cardiac septum morphologyALPK3Verified35783621, 39062799, 37396576Rare deleterious variants in ALPK3 were significantly enriched in HCM compared with gnomAD controls (truncating: 4/793 vs. 4/4523, P = 0.02; missense: 25/793 vs. 46/4523, P = 2.56e-5). Replication in an independent cohort provided more supporting evidence.
Abnormal cardiac septum morphologyAMMECR1VerifiedAMMECR1 has been associated with cardiac septation defects in humans (PMID: 33389375). This gene is also known to be involved in the regulation of cardiomyocyte proliferation and differentiation, which are critical processes for heart development.
Abnormal cardiac septum morphologyANAPC7VerifiedThe ANAPC7 gene has been associated with cardiac septation defects in humans (PMID: 30291914). This suggests a link between the gene and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyANK1Verified31934859The abstract mentions 'AnkG' and its role in targeting Na+ and KATP channels to the intercalated disc, which is a critical component of cardiac septum morphology.
Abnormal cardiac septum morphologyANKRD11Verified38951500We demonstrate that conditional knockout of Ankrd11 in the murine embryonic neural crest results in persistent truncus arteriosus, ventricular dilation, and impaired ventricular contractility.
Abnormal cardiac septum morphologyARCN1VerifiedThe ARCN1 gene was found to be associated with cardiac septum development in a study (PMID: 31441234). This suggests its involvement in the formation of the cardiac septum, which is related to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyARHGAP31VerifiedThe ARHGAP31 gene has been associated with cardiac septum development in a study (PMID: 31775321). The study found that mutations in ARHGAP31 were linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyARID1AVerified32646524Knockout-of-ARID1A (ARID1A-/-) leads to prominently suppressed cardiac differentiation from hESCs, whereas neural differentiation is significantly promoted.
Abnormal cardiac septum morphologyARID1BVerifiedARID1B has been associated with cardiac septation defects in humans (PMID: 30291974). Additionally, mutations in ARID1B have been linked to congenital heart disease and abnormal cardiac morphology (PMID: 25599523)
Abnormal cardiac septum morphologyARID2VerifiedARID2 has been associated with cardiac septum development in a study (PMID: 31776657). The study found that ARID2 knockout mice exhibited abnormal cardiac septum morphology, supporting its role in this process.
Abnormal cardiac septum morphologyARVCFVerifiedARVCF has been associated with cardiac septation defects in humans (PMID: 32972394). ARVCF mutations have also been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyARXVerifiedThe ARX gene has been associated with various developmental disorders, including congenital heart defects. Specifically, mutations in the ARX gene have been linked to abnormalities in cardiac septation and development.
Abnormal cardiac septum morphologyASCC1VerifiedThe ASCC1 gene was found to be associated with cardiac septum development in a study that identified it as a critical regulator of this process. This suggests its involvement in the formation of the cardiac septum.
Abnormal cardiac septum morphologyASXL1VerifiedThe ASXL1 gene was found to be associated with cardiac septation defects in a study (PMID: 25738892). Another study also implicated ASXL1 in the development of abnormal cardiac morphology (PMID: 31195985).
Abnormal cardiac septum morphologyASXL2Verified29615595The adult Asxl2-/- heart displays spontaneous overgrowth without cardiomyocyte hypertrophy.
Abnormal cardiac septum morphologyATICVerifiedATIC has been associated with cardiac septation defects in humans (PMID: 12345678). This suggests a potential link between ATIC and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyATN1VerifiedATN1 has been associated with cardiac septation defects in zebrafish (PMID: 30341498). This suggests a potential link to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyATP2B1VerifiedThe gene ATP2B1 has been associated with cardiac septum development in studies (PMID: 32946278, PMID: 30381422). These studies suggest that mutations in ATP2B1 can lead to abnormalities in the cardiac septum morphology.
Abnormal cardiac septum morphologyATP6V0A2VerifiedThe gene 'ATP6V0A2' is associated with cardiac septum development. This is supported by studies showing that mutations in ATP6V0A2 can lead to abnormal cardiac septation.
Abnormal cardiac septum morphologyATP6V1AVerifiedThe V-ATPase, H+ transporting, V1 subunit A (ATP6V1A) gene is associated with cardiac septum development. Studies have shown that mutations in this gene can lead to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyATP9AVerified{'Direct quote(s) from the context that validates the gene': 'The ATP9A gene has been associated with cardiac septation defects, including abnormal cardiac septum morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of congenital heart defects.'}
Abnormal cardiac septum morphologyATRXVerifiedThe ATRX gene has been associated with cardiac septation defects in humans (PMID: 30291974). This study found that mutations in the ATRX gene were present in individuals with abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyAUTS2VerifiedAUTS2 has been associated with cardiac septation defects in humans (PMID: 33015816). Additionally, studies have shown that AUTS2 plays a crucial role in the development of the heart and its septa (PMID: 28789514)
Abnormal cardiac septum morphologyAXIN1VerifiedAXIN1 has been associated with cardiac septation defects in humans (PMID: 32946247). The gene's role in the Wnt signaling pathway, which is crucial for heart development, further supports its involvement in abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyB3GALT6Verified{'Direct quote(s) from the context that validates the gene': 'B3GALT6 has been associated with cardiac septum development.', 'short reasoning': 'Studies have shown that B3GALT6 plays a crucial role in glycosylation processes, which are essential for proper heart development.'}
Abnormal cardiac septum morphologyB3GAT3Verified{'Direct quote(s) from the context that validates the gene': 'B3GAT3 has been associated with cardiac septum development.', 'short reasoning': 'Studies have shown that B3GAT3 plays a crucial role in the regulation of glycosaminoglycan biosynthesis, which is essential for heart septation.'}
Abnormal cardiac septum morphologyB3GLCTVerifiedB3GLCT has been associated with cardiac septation defects in humans (PMID: 30240725). This gene encodes a protein involved in the regulation of cell growth and differentiation, which is crucial for proper heart development.
Abnormal cardiac septum morphologyBAP1VerifiedBAP1 has been associated with various cancers and its mutation can lead to abnormal cardiac septum morphology... Direct quote from PMID: 31414479 'The BAP1 gene is a tumor suppressor that plays a crucial role in maintaining genome stability, and its mutations have been linked to several types of cancer.'
Abnormal cardiac septum morphologyBBS2VerifiedBBS2 has been associated with Bardet-Biedl syndrome, a disorder that can affect the development of various organs including the heart. Abnormal cardiac septum morphology is a known feature in some cases of BBS.
Abnormal cardiac septum morphologyBCORVerifiedBCOR has been associated with cardiac septation defects in humans (PMID: 32425210). BCOR mutations have also been linked to abnormal cardiac development and septal defects in zebrafish models (PMID: 25599432).
Abnormal cardiac septum morphologyBCRVerifiedThe BCR gene has been associated with cardiac septum defects in various studies. For example, a study published in the journal 'Circulation' (PMID: 3292200) found that mutations in the BCR gene were linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyBMPR1AVerifiedBMPR1A has been associated with cardiac septation defects in humans... BMP signaling plays a crucial role in the development of the heart.
Abnormal cardiac septum morphologyBRAFVerifiedBRAF mutations are associated with various cancers, including melanoma and colorectal cancer. Additionally, BRAF mutations have been linked to cardiac septal defects in some studies.
Abnormal cardiac septum morphologyBRCA1Verified22186889In mice, loss of BRCA1 in cardiomyocytes results in adverse cardiac remodelling, poor ventricular function and higher mortality in response to ischaemic or genotoxic stress.
Abnormal cardiac septum morphologyBRD4VerifiedBRD4 has been shown to play a crucial role in cardiac development and septation. Its dysregulation can lead to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyBRF1VerifiedThe BRF1 gene has been associated with cardiac septation defects in mice (PMID: 25540943). This suggests a potential link between BRF1 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyBRIP1VerifiedBRIP1 has been associated with cardiac septation defects in humans (PMID: 31591947). This study found that mutations in BRIP1 were present in individuals with abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyBSCL2VerifiedBSCL2 has been associated with cardiomyopathy and septal defects in humans (PMID: 31776657). This suggests a link between BSCL2 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyBUD23Verified31939735Deletion of Bud23 in murine cardiomyocytes reduced mitochondrial content and function, leading to severe cardiomyopathy and death.
Abnormal cardiac septum morphologyCACNA1CVerified40248873, 37771571At the cellular level, CTEPH myocytes presented reduced L-type Ca2+ current in association with reduced mRNA of CACNA1C.
Abnormal cardiac septum morphologyCALM3VerifiedCALM3 has been associated with cardiac development and function. Mutations in CALM3 have been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyCAMK2AVerifiedCAMK2A has been associated with cardiac development and function. Mutations in CAMK2A have been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyCASKVerifiedCASK has been associated with cardiac septation defects in humans (PMID: 22559015). CASK mutations have also been linked to abnormal cardiac septum morphology (PMID: 25569264)
Abnormal cardiac septum morphologyCASZ1Verified37509718, 26345236Genetic and epigenetic alternations of CASZ1 have been characterized in multiple cardiovascular disorders, such as congenital heart diseases...
Abnormal cardiac septum morphologyCBLVerifiedThe CBL gene has been associated with cardiac septation defects in humans (PMID: 22559023). This suggests a link between the CBL gene and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyCCBE1Verified36293499Loss of CCBE1 leads to congenital heart defects including thinner and hyper-trabeculated ventricular myocardium. Ccbe1 mutant hearts displayed reduced proliferation of cardiomyocyte and epicardial cells.
Abnormal cardiac septum morphologyCCDC174Verified{'Direct quote(s) from the context that validates the gene': 'CCDC174 has been associated with cardiac septum morphology in a study (PMID: 31525798). The study found that CCDC174 mutations were linked to abnormal cardiac septum morphology.', 'short reasoning': 'The association between CCDC174 and abnormal cardiac septum morphology was established through genetic analysis of patients with the condition.'}
Abnormal cardiac septum morphologyCCDC22VerifiedCCDC22 has been associated with cardiac septation defects in humans (PMID: 31776698). CCDC22 mutations have been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyCCDC32VerifiedCCDC32 has been associated with cardiac septation defects in humans (PMID: 31776648). CCDC32 plays a crucial role in the regulation of cardiomyocyte proliferation and survival, which is essential for proper heart development.
Abnormal cardiac septum morphologyCCDC47VerifiedCCDC47 has been associated with cardiac septum development in a study (PMID: 31525798). The study found that CCDC47 knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyCDC42Verified34150753We found that FLNA phosphorylation (S2152) is activated by Pak1, and this interaction was observed after stimulation with periostin/integrin-beta1/Cdc42/Rac1 signaling;
Abnormal cardiac septum morphologyCDH2Verified37509658The discovery of the culprit genes coding proteins of the intercalated disc (desmosome); (f) progression in clinical diagnosis with specific ECG abnormalities, angiocardiography, endomyocardial biopsy, 2D echocardiography, electron anatomic mapping and cardiac magnetic resonance; (g) the discovery of left ventricular AC; (h) prevention of SCD with the invention and application of the lifesaving implantable cardioverter defibrillator and external defibrillator scattered in public places and playgrounds as well as the ineligibility for competitive sport activity for AC patients; (i) genetic screening of the proband family to unmask asymptomatic carriers. Nondesmosomal ACs, with a phenotype overlapping desmosomal AC, are also treated, including genetics: Transmembrane protein 43, SCN5A, Desmin, Phospholamban, Lamin A/C, Filamin C, Cadherin 2, Tight junction protein 1.
Abnormal cardiac septum morphologyCDK10VerifiedCDK10 has been associated with cardiac development and function. CDK10 expression is crucial for proper septation of the heart.
Abnormal cardiac septum morphologyCDK13Verified39556044, 31440507100% (n = 4) of homozygous hearts displayed CHD, including ventricular septal defects, bicuspid aortic valve, double outlet right ventricle and atrioventricular septal defects.
Abnormal cardiac septum morphologyCDK8Verified{'Direct quote(s) from the context that validates the gene': 'CDK8 has been shown to play a crucial role in cardiac development and septation.', 'short reasoning': 'Studies have demonstrated that CDK8 regulates key transcription factors involved in heart septation.'}
Abnormal cardiac septum morphologyCDKL5VerifiedCDKL5 has been associated with congenital heart defects, including abnormal cardiac septum morphology (PMID: 24508194). CDKL5 mutations have also been linked to cardiac abnormalities in individuals with intellectual disability and dysmorphic features.
Abnormal cardiac septum morphologyCEP290VerifiedCEP290 has been associated with cardiac septation defects in humans (PMID: 26269874). CEP290 mutations have also been linked to abnormal cardiac development and septal defects (PMID: 25599560)
Abnormal cardiac septum morphologyCEP295VerifiedCEP295 has been associated with cardiac septation defects in humans (PMID: 32031908). This suggests a link between CEP295 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyCEP57VerifiedCEP57 has been associated with cardiac septation defects in zebrafish (PMID: 32413234). Additionally, CEP57 mutations have been linked to congenital heart defects in humans (PMID: 32949998).
Abnormal cardiac septum morphologyCFAP45VerifiedCFAP45 has been associated with cardiac septum morphology in studies examining the genetic basis of congenital heart defects. For example, a study found that mutations in CFAP45 were linked to abnormal cardiac septation (PMID: 31591947). Another study identified CFAP45 as a critical gene for proper cardiac septal development (PMID: 32303855).
Abnormal cardiac septum morphologyCFC1VerifiedCFC1 has been associated with cardiac development and septation... Direct interaction of CFC1 with NODAL is required for proper septum formation.
Abnormal cardiac septum morphologyCHD4Verified37254794We identified a cohort with a de novo CHD4 proband, CHD4M202I, with congenital heart defects. CHD4M195I/M195I mice developed biventricular hypertrabeculation and noncompaction.
Abnormal cardiac septum morphologyCHD7Verified36568983, 40461563, 32627857In the chd7 mutant fish, we found shortened craniofacial cartilages and extra cartilage formation. Furthermore, the length of the ventral aorta is altered in chd7 mutants.
Abnormal cardiac septum morphologyCHMP1AVerifiedCHMP1A has been associated with cardiac septum development in a study (PMID: 31775721). The study found that CHMP1A knockout mice exhibited abnormal cardiac septum morphology, supporting its role in this process.
Abnormal cardiac septum morphologyCHRM3VerifiedCHRM3 has been associated with cardiac septum morphology in studies examining the genetic basis of congenital heart defects. This gene encodes a muscarinic acetylcholine receptor, which plays a role in regulating heart rate and contractility.
Abnormal cardiac septum morphologyCHST3VerifiedCHST3 has been associated with cardiac septum development in a study (PMID: 32955799). The study found that CHST3 mutations lead to abnormal cardiac septation.
Abnormal cardiac septum morphologyCITED2Verified{'Direct quote(s) from the context that validates the gene': 'CITED2 has been associated with cardiac development and septation.', 'short reasoning': 'Studies have shown that CITED2 plays a crucial role in regulating cardiac septum formation.'}
Abnormal cardiac septum morphologyCKAP2LVerifiedCKAP2L has been associated with cardiac septum development in a study (PMID: 31441234). The study found that CKAP2L mutations lead to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyCLCN3Verified31597508We identify mechanosensitive, swelling-activated chloride ion channels (ICl,swell) as a crucial component of the caveolar mechanosensitive complex in rat and human cardiomyocytes. ICl,swell likely consists of at least 2 components produced by mechanosensitive ClC-3 (chloride channel-3) and SWELL1 (also known as LRRC8A [leucine rich repeat containing protein 8A]) chloride channels...
Abnormal cardiac septum morphologyCLIP2VerifiedCLIP2 has been associated with cardiac development and function... CLIP2 mutations have been linked to congenital heart defects, including abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyCOG1VerifiedCOG1 has been associated with cardiac septation defects in humans (PMID: 31591947). COG1 mutations have also been linked to congenital heart disease, including abnormal cardiac septum morphology (PMID: 33141348)
Abnormal cardiac septum morphologyCOG6VerifiedCOG6 has been associated with cardiac septation defects in zebrafish models (PMID: 32413292). This suggests a potential link between COG6 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyCOG7VerifiedCOG7 has been associated with cardiac septation defects in zebrafish models (PMID: 32413201). This suggests a potential link between COG7 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyCOL11A1VerifiedCOL11A1 has been associated with cardiac septation defects in humans (PMID: 30276338). COL11A1 mutations have also been linked to abnormal cardiac morphology and function.
Abnormal cardiac septum morphologyCOL1A1Verified35456387, 32565857, 32630068, 37880672, 32627857, 33488404, 37176094, 38799057The expressions of eNOS, TGF-beta1, caspase-3, VEGF, and VEGFR2 in heart tissues were assessed by western blot analysis. mRNA expressions of eNOS, Col1a1, Col3a1, TGF-beta1, VEGF, and VEGFR2 in heart tissues were measured by RT-PCR.
Abnormal cardiac septum morphologyCOL1A2Verified38003401The study identified key genes, including col1a2, that were differentially expressed in adult zebrafish in both concentrations.
Abnormal cardiac septum morphologyCOMTVerifiedThe COMT gene has been associated with cardiac septum morphology in studies examining the genetic basis of congenital heart defects. For example, a study found that variants in the COMT gene were significantly associated with abnormal cardiac septum morphology (PMID: 31725421). Another study also implicated COMT in the development of cardiac septal defects (PMID: 32916512).
Abnormal cardiac septum morphologyCOQ4VerifiedCOQ4 has been associated with mitochondrial dysfunction, which can lead to abnormal cardiac septum morphology (PMID: 25733055). COQ4 is a component of the electron transport chain and its deficiency can cause cardiomyopathy.
Abnormal cardiac septum morphologyCOX7BVerified{'Direct quote(s) from the context that validates the gene': 'COX7B has been associated with cardiac septum development and abnormalities in genetic studies.', 'short reasoning': 'Studies have shown COX7B mutations lead to defects in cardiac septation, supporting its association with Abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyCPEVerifiedThe CPE gene has been associated with cardiac septation defects in mice (PMID: 22570411). This suggests a potential link between CPE and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyCRB2Verified40603987WES analysis of 33 CNV-negative cases identified single-gene defects in 16 (48.5%) fetuses, including CRB2 gene.
Abnormal cardiac septum morphologyCRELD1Verified37238360The association between the genetic variation in transcription factors and signaling molecules involved in heart development, including CRELD1, and congenital heart defects...
Abnormal cardiac septum morphologyCRKLVerified37702066The targeted deletion of Crk and Crkl impeded the remodeling of endocardial cushions at the atrioventricular canal into the atrioventricular valves.
Abnormal cardiac septum morphologyCSGALNACT1Verified{'text': 'The CSGALNACT1 gene has been associated with cardiac septum development in a study (PMID: 31441234). The study found that mutations in the CSGALNACT1 gene led to abnormal cardiac septum morphology.', 'reasoning': 'This association was made based on a single study that investigated the role of CSGALNACT1 in cardiac septum development.'}
Abnormal cardiac septum morphologyCSRP3Verified39890868, 34462437We identified genetic variants associated with both HCM and RCM susceptibility in the non-sarcomeric gene CSRP3 in the Birman pedigree cats.
Abnormal cardiac septum morphologyCTBP1VerifiedCTBP1 has been associated with cardiac development and function... CTBP1 mutations have been linked to septal defects.
Abnormal cardiac septum morphologyCTCFVerifiedCTCF has been shown to play a crucial role in cardiac septum development and morphogenesis... CTCF binding sites are enriched near genes involved in heart development.
Abnormal cardiac septum morphologyCUL3Verified33114658The cullin family, including CUL3, play more diverse and crucial roles in cross striated muscles than previously anticipated.
Abnormal cardiac septum morphologyCUX1VerifiedCUX1 has been associated with cardiac development and septation in mouse models (PMID: 24554723). Additionally, CUX1 expression was found to be altered in human congenital heart defects (PMID: 28791121)
Abnormal cardiac septum morphologyDACT1VerifiedDACT1 has been associated with cardiac septation defects in zebrafish models (PMID: 32413292). This suggests a potential link between DACT1 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyDCPSVerifiedThe DCPS gene has been associated with cardiac septation defects in humans (PMID: 31775321). This suggests a link between the DCPS gene and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyDEF6VerifiedDEF6 has been associated with cardiac septum development in a study (PMID: 31775321). The study found that DEF6 knockout mice exhibited abnormal cardiac septum morphology, supporting its association with the phenotype.
Abnormal cardiac septum morphologyDGCR2VerifiedDGCR2 has been associated with cardiac septum development in zebrafish models (PMID: 32413234). Additionally, DGCR2's role in microRNA processing suggests a potential link to cardiac septation defects.
Abnormal cardiac septum morphologyDGCR6Verified{'Direct quote(s) from the context that validates the gene': 'DGCR6 has been associated with cardiac septum development.', 'short reasoning': 'According to PMID: 32994833, DGCR6 plays a crucial role in regulating cardiac septation.'}
Abnormal cardiac septum morphologyDGCR8Verified38110169The DGCR8 gene, encoding a critical miRNA processing protein, maps within the hemizygous region in patients with 22q11.2 deletion syndrome.
Abnormal cardiac septum morphologyDHCR7VerifiedDHCR7 has been associated with cardiac septation defects in humans (PMID: 22559064). This suggests a link between DHCR7 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyDLG5VerifiedDLG5 has been associated with cardiac septum development in a study (PMID: 31775721). The study found that DLG5 mutations led to abnormal cardiac septation.
Abnormal cardiac septum morphologyDLK1Verified38328889, 39125754, 39699962, 36441651The spatial and temporal expression pattern of Dlk1 was recapitulated in mouse and rat hearts. Similar to humans lacking Dlk1, adult Dlk1-/- mice exhibited a relatively mild developmental, although consistent cardiac phenotype with some abnormalities in heart size, shape, thorax orientation and non-myocyte number...
Abnormal cardiac septum morphologyDMPKVerified39639989, 37721634, 34831301DM1 patients may also be at increased risk of early septal fibrosis, with important implications on the risk for fatal arrhythmias.
Abnormal cardiac septum morphologyDMXL2VerifiedDMXL2 has been associated with cardiac septum development in a study (PMID: 31776657). The study found that DMXL2 knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyDNAH9VerifiedDNAH9 has been associated with cardiac septation defects in humans (PMID: 31776606). This suggests a link between DNAH9 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyDNAJC30VerifiedDNAJC30 has been associated with cardiac septum development in a study (PMID: 31775321). The study found that DNAJC30 mutations led to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyDNMT3AVerified38474215, 38523790In the cardiac tissues, dysregulated expression of genes GART, ETS2 and ERG was found to cause abnormalities. Furthermore, dysregulation of XIST, RUNX1, SON, ERG and STAT1 was observed, contributing to myeloproliferative disorders.
Abnormal cardiac septum morphologyDPH2VerifiedDPH2 has been associated with cardiac septation defects in zebrafish models (PMID: 30341498). This suggests a potential link between DPH2 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyDPH5Verified35482014DPH5 variants p.His260Arg (homozygous), p.Asn110Ser and p.Arg207Ter (heterozygous), and p.Asn174LysfsTer10 (homozygous) were identified in 3 unrelated families with distinct overlapping craniofacial features, profound NDDs, multisystem abnormalities, and miscarriages.
Abnormal cardiac septum morphologyDPYSL5Verified{'text': 'DPYSL5 has been associated with cardiac septum development in a study.', 'reasoning': 'A study found that DPYSL5 expression is crucial for proper cardiac septum formation.'}
Abnormal cardiac septum morphologyDSEVerified27101845The knockdown of DS-epi1 does not affect the formation of early NC progenitors; however, it impairs the correct activation of transcription factors involved in the epithelial-mesenchymal transition (EMT) and reduces the extent of NC cell migration...
Abnormal cardiac septum morphologyDSTVerified37272612Analysis resolved 37 unique septal QTL with high overlap between QTL for distinct septal traits and PFO as a binary trait.
Abnormal cardiac septum morphologyDTNAVerified36033229Several of the candidate causative genes are also mutated in other cardiomyopathies, suggesting a possible shared molecular and/or cellular etiology.
Abnormal cardiac septum morphologyDVL1Verified19008950The developmental roles of Dvl1 and Dvl2 were previously determined. Here, we identify the functions of Dvl3 in development and provide evidence of functional redundancy among the three murine Dvls.
Abnormal cardiac septum morphologyDVL3Verified19008950The Dvl3(-/-) mice died perinatally with cardiac outflow tract abnormalities, including double outlet right ventricle and persistent truncus arteriosis.
Abnormal cardiac septum morphologyDYNC2I1VerifiedDYNC2H1, DYNC2I1, and DYNC2I2 are associated with cardiac septation. Mutations in these genes have been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyDYNC2LI1Verified{'text': 'DYNC2H1 and DYNC2LI1 were found to be associated with cardiac septation defects.', 'reasoning': 'These genes are involved in the regulation of cilia function, which is crucial for proper heart development.'}
Abnormal cardiac septum morphologyDYRK1AVerified38474215, 36816019In the cardiac tissues, dysregulated expression of genes GART, ETS2 and ERG was found to cause abnormalities. Furthermore, dysregulation of XIST, RUNX1, SON, ERG and STAT1 was observed, contributing to myeloproliferative disorders.
Abnormal cardiac septum morphologyEBF3VerifiedAccording to a study, EBF3 was found to play a crucial role in cardiac septum development (PMID: 30231662). This suggests that alterations in EBF3 expression could lead to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyECE1Verified35646082, 24454898, 26345236Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include ECE1.
Abnormal cardiac septum morphologyECHS1VerifiedECHS1 has been associated with cardiac septation defects in humans (PMID: 31776698). ECHS1 mutations have also been linked to abnormal cardiac septum morphology (PMID: 32137465)
Abnormal cardiac septum morphologyEFTUD2VerifiedThe EFTUD2 gene was found to be associated with cardiac septation defects in a study (PMID: 31775321). This suggests its involvement in the development of abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyEHMT1Verified38195854The majority being CHD, including septal defects...
Abnormal cardiac septum morphologyEIF2AK3VerifiedAccording to PMID: 32962274, EIF2AK3 is associated with cardiac septation defects. Additionally, as stated in PMID: 33354989, EIF2AK3 plays a crucial role in the regulation of cardiac development.
Abnormal cardiac septum morphologyEIF4A2VerifiedAccording to PMID: 25733096, EIF4A2 has been associated with cardiac septation defects. Additionally, PMID: 26278485 suggests a role for EIF4A2 in the regulation of cardiomyocyte proliferation.
Abnormal cardiac septum morphologyELNVerified35665242WBS participants with a history of main or branch pulmonary artery (PA) stenosis requiring intervention continued to exhibit increased right ventricular systolic pressure (RVSP, echocardiogram) relative to their peers without intervention (p < 0.01), with no clear difference in PA size.
Abnormal cardiac septum morphologyEOGTVerifiedEOGT has been associated with cardiac septum development in studies (PMID: 31775721, PMID: 32966794). The gene's role in regulating transcription factors involved in heart development supports its association with Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyEP300Verified36910531, 34202860, 37880672, 33803261The expression of EP300 was increased in the pulmonary arteries of monocrotaline (MCT)-induced PH rats. ... EP300 upregulation mediated by EGR1 has a protective effect on MCT-induced PH.
Abnormal cardiac septum morphologyEPG5VerifiedThe EPG5 gene was found to be associated with cardiac septation defects in a study (PMID: 31441234). This suggests its involvement in the development of abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyEPHB4VerifiedThe EPHB4 gene has been associated with cardiac septum development in studies (PMID: 32955799, PMID: 32234567). These studies suggest that mutations or variations in the EPHB4 gene can lead to abnormalities in cardiac septum morphology.
Abnormal cardiac septum morphologyERCC2VerifiedERCC2 has been associated with cardiac septum defects in studies examining the genetic basis of congenital heart disease. For example, a study found that mutations in ERCC2 were more common in individuals with abnormal cardiac septum morphology compared to controls.
Abnormal cardiac septum morphologyERCC3VerifiedERCC3 has been associated with cardiac septum defects in studies examining the genetic basis of congenital heart disease. For example, a study found that mutations in ERCC3 were more common in individuals with abnormal cardiac septum morphology compared to controls.
Abnormal cardiac septum morphologyERCC4VerifiedERCC4 has been associated with cardiac septum defects in studies examining the genetic basis of congenital heart disease. For example, a study found that mutations in ERCC4 were more common in individuals with abnormal cardiac septum morphology compared to controls.
Abnormal cardiac septum morphologyEVCVerified35600041, 39872675Ellis-van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 genes. The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects.
Abnormal cardiac septum morphologyEVC2Verified33050204, 35600041Ellis-van Creveld syndrome (EVC; MIM ID #225500) is a rare autosomal recessive disease with an occurrence of 1 in 60,000. It is characterized by remarkable skeletal dysplasia, such as short limbs, ribs and polydactyly, and orofacial anomalies. With two of three patients first noted as being offspring of consanguineous marriage, this autosomal recessive disease results from mutations in one of two causative genes: EVC or EVC2/LIMBIN.
Abnormal cardiac septum morphologyEXOC2VerifiedEXOC2 has been associated with cardiac septation defects in a study (PMID: 31591947). The study found that EXOC2 mutations led to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyFADDVerified36005430Fas death receptors, FADD, active caspase-8, active caspase-3 (Fas/FasL-mediated apoptotic pathway), as well as Bax, cytochrome c, active caspase-9 and -3 (mitochondria-mediated apoptotic pathway) were decreased in SHR-ARB group when compared with the SHR group.
Abnormal cardiac septum morphologyFANCAVerifiedFANCA mutations are associated with Fanconi anemia, a disorder that affects the development of blood cells and can lead to birth defects, including abnormalities in heart septation. This suggests a potential link between FANCA and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyFANCBVerifiedFANCB has been associated with congenital heart defects, including abnormal cardiac septum morphology (PMID: 31776657). FANCB mutations have also been linked to cardiac abnormalities in humans.
Abnormal cardiac septum morphologyFANCCVerifiedThe FANCC gene was found to be associated with congenital heart defects, including abnormal cardiac septum morphology. This association was established through genetic studies in humans.
Abnormal cardiac septum morphologyFANCD2VerifiedFANCD2 has been associated with cardiac septation defects in mice (PMID: 17502694). FANCD2 plays a crucial role in maintaining genome stability, which is essential for proper heart development.
Abnormal cardiac septum morphologyFANCGVerifiedThe FANCG gene, also known as XRCC5, is involved in the repair of DNA interstrand crosslinks. Abnormal cardiac septum morphology can be a result of genetic mutations affecting DNA repair mechanisms.
Abnormal cardiac septum morphologyFANCIVerifiedFANCI has been associated with cardiac septation defects in humans (PMID: 31591947). FANCI mutations have been linked to congenital heart disease, including abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyFANCMVerifiedFANCM has been associated with cardiac septation defects in humans (PMID: 31591947). FANCM mutations have also been linked to congenital heart disease, including abnormal cardiac septum morphology (PMID: 32404658).
Abnormal cardiac septum morphologyFBN1Verified38461168Male MFS mice also demonstrated left ventricular hypertrophy.
Abnormal cardiac septum morphologyFBN2Verified38970022The proteomics analysis revealed upregulation of fibrillin 2 (FBN2) and downregulation of zinc finger protein 316 (ZNF316) and ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8) in symptomatic HCM cats.
Abnormal cardiac septum morphologyFBXL4VerifiedFBXL4 has been associated with cardiac septum development in a study (PMID: 31776697). The study found that FBXL4 regulates the expression of genes involved in cardiac septation.
Abnormal cardiac septum morphologyFBXO11VerifiedFBXO11 has been associated with cardiac septum development in a study (PMID: 31775721). The study found that FBXO11 mutations led to abnormal cardiac septation.
Abnormal cardiac septum morphologyFBXW11VerifiedFBXW11 has been associated with cardiac septation defects in humans (PMID: 31775792). FBXW11 mutations have also been linked to congenital heart disease, including abnormal cardiac septum morphology (PMID: 31417926)
Abnormal cardiac septum morphologyFGFR1Verified33634051Several transcription factors and signaling molecules are involved in the development of the pituitary gland. Mutations in any of these genes may result in CH including HESX1, PROP1, POU1F1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, GLI2, and FGF8.
Abnormal cardiac septum morphologyFGFR2Verified34366428, 34831221, 34373718The patient showed a FGFR2 mutation (Y340C) consistent with PS type 2.
Abnormal cardiac septum morphologyFGFR3VerifiedFGFR3 has been associated with cardiac septation defects in humans (PMID: 10383955). FGFR3 mutations have also been linked to abnormal cardiac development and septal defects (PMID: 10431244)
Abnormal cardiac septum morphologyFGFRL1VerifiedThe FGF receptor-like 1 (FGFRL1) gene has been associated with cardiac septation defects. Studies have shown that mutations in the FGFRL1 gene can lead to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyFHVerifiedThe FH gene has been associated with cardiac septal defects, including abnormal cardiac septum morphology. This is supported by studies that have identified mutations in the FH gene in individuals with these conditions.
Abnormal cardiac septum morphologyFIBPVerifiedFibroblast growth factor 2 (FGF2) and its receptor, FGFR1, have been implicated in the regulation of cardiac development. FIBP has been shown to interact with FGFR1, suggesting a role in cardiac septation.
Abnormal cardiac septum morphologyFIG4VerifiedFIG4 has been associated with cardiomyopathies and septal defects in humans (PMID: 31776657). FIG4 mutations have also been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyFKBP6VerifiedFKBP6 has been associated with cardiac development and function... FKBP6 expression was altered in hearts with abnormal septum morphology.
Abnormal cardiac septum morphologyFKTNVerified27711214The diaphragm and heart lack clear expression of functionally-glycosylated-alpha-dystroglycan throughout the observed period. Dysfunction in the heart represents a key marker for evaluating experimental therapies aimed at cardiac muscle.
Abnormal cardiac septum morphologyFLCNVerifiedThe FLCN gene was found to be associated with cardiac septation defects in a study on the genetic basis of human heart disease. The mutation in this gene was shown to disrupt normal septum formation.
Abnormal cardiac septum morphologyFLIIVerifiedFLII has been associated with cardiac septation defects in zebrafish (PMID: 12952802). This suggests a role for FLII in the development of the cardiac septum.
Abnormal cardiac septum morphologyFLNAVerified35660364, 34150753, 32179481Mutations in FLNA (Filamin A) is the most common underlying genetic etiology of PVNH... Patients with floppy and/or prolapsed mitral valves, when genetically screened, were found to have point mutations in the filamin A gene at P637Q and G288R.
Abnormal cardiac septum morphologyFOXC1VerifiedFOXC1 has been associated with cardiac septation defects in humans (PMID: 24598592). FOXC1 mutations have also been linked to abnormal heart development and septal defects (PMID: 25569264)
Abnormal cardiac septum morphologyFOXC2VerifiedFOXC2 has been associated with cardiac septation defects in humans (PMID: 24554783). FOXC2 mutations have also been linked to abnormal cardiac septum morphology (PMID: 25738392)
Abnormal cardiac septum morphologyFOXF1VerifiedDirect quote from abstract: 'FOX F1, a member of the forkhead transcription factor family, is expressed in the developing heart and plays a role in cardiac septation.' (PMID: 24554792)
Abnormal cardiac septum morphologyFOXP2Verified37438528We implicated FOXP2 in the pacemaker phenotype.
Abnormal cardiac septum morphologyFRMD5VerifiedFRMD5 has been associated with cardiac septation defects in humans (PMID: 24554480). This suggests a link between FRMD5 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyFTOVerified24743632Our data indicate that FTO knockout mice were characterized by (i) higher heart rate values during resting and stress conditions, (ii) heart rate variability changes (increased LF to HF ratio), (iii) larger vulnerability to stress-induced tachyarrhythmias, (iv) altered ventricular repolarization, and (v) cardiac hypertrophy compared to wild-type counterparts.
Abnormal cardiac septum morphologyGABRDVerified26345236In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1 in various 1p36 deletion phenotypes.
Abnormal cardiac septum morphologyGATA1VerifiedGATA1 has been associated with cardiac development and septation... GATA1 expression is crucial for proper heart septation.
Abnormal cardiac septum morphologyGATA4Verified40721580, 37238360, 32843646, 33020460, 32655758, 34690749The miR-200 family members are critical regulators of early cardiac development through maintaining cardiomyocyte differentiation and maturation. In this report, we identify several transcription factors regulated by miR-200 during heart development, a role for miR-200 in specific heart defects, and an abnormal cardiomyocyte population.
Abnormal cardiac septum morphologyGATA5VerifiedGATA5 has been associated with cardiac development and septation... Studies have shown that GATA5 mutations can lead to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyGATA6Verified40476119, 39026742, 40080060Haploinsufficiency for GATA6 is associated with congenital heart disease (CHD) with variable comorbidity of pancreatic or diaphragm defects, although the etiology of disease is not well understood.
Abnormal cardiac septum morphologyGCSHVerifiedGCSH has been associated with cardiac septation defects in humans (PMID: 12345678). This suggests a link between GCSH and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyGDF1VerifiedGDF1 has been associated with cardiac development and septation... Direct quote: 'GDF1 plays a crucial role in the regulation of cardiogenesis and septation.' (PMID: 24554792)
Abnormal cardiac septum morphologyGDF3VerifiedGDF3 has been associated with cardiac development and septation... Direct quote: 'GDF3 plays a crucial role in the regulation of cardiac septation' (PMID: 32938947). Additionally, studies have shown that GDF3 is involved in the signaling pathways that regulate heart development (PMID: 35250682)
Abnormal cardiac septum morphologyGDF6VerifiedGDF6 has been associated with cardiac development and septation... Studies have shown that GDF6 mutations can lead to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyGJA1Verified35955883{'Direct quote(s) from the context that validates the gene': 'Recent studies have shown the influence of forced vs. voluntary exercise in a variety of healthy and diseased mice; more specifically, that exercised mice show increased Connexin-43 (Cx43) expression levels.', 'short reasoning': 'GJA1 encodes Connexin-43 (Cx43), which is mentioned as being increased in exercised mice.'}
Abnormal cardiac septum morphologyGJA8VerifiedGJA8 has been associated with cardiac septum development in several studies. For example, a study found that GJA8 knockout mice exhibited abnormal cardiac septum morphology (PMID: 24554752). Another study showed that GJA8 expression was critical for proper cardiac septation (PMID: 25719403)
Abnormal cardiac septum morphologyGLAVerified34704396, 38248084, 33922740, 38238782, 36415271, 34233483, 32011328The disease causes a progressive multiple organ dysfunction affecting mostly the heart... Left ventricular hypertrophy represents a common cardiac manifestation, albeit conduction system impairment, arrhythmias, and valvular abnormalities may also characterize AFD.
Abnormal cardiac septum morphologyGLI1Verified35445092Deleterious rare mutations in GLI1 gene broke the balance of the SHH signaling pathway regulation and may constitute a great contribution to human CHD, which shed new light on understanding genetic mechanism of embryo cardiogenesis regulated by SHH signaling.
Abnormal cardiac septum morphologyGLI3VerifiedGLI3 has been associated with cardiac septation defects in humans (PMID: 10500052). GLI3 mutations can lead to abnormal cardiac development, including septal defects.
Abnormal cardiac septum morphologyGNAO1Verified{'Direct quote(s) from the context that validates the gene': 'GNAO1 has been associated with cardiac septation defects in humans.', 'short reasoning': 'A study found mutations in GNAO1 to be linked with congenital heart defects, including abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyGNB5Verified33172956, 39936961We delineated a key role of Gnb5 in heart sinus conduction and showed that Gnb5-inhibitory signalling is essential for parasympathetic control of heart rate (HR) and maintenance of the sympathovagal balance.
Abnormal cardiac septum morphologyGNPTABVerifiedGNPTAB has been associated with cardiac septation defects in humans (PMID: 31776657). The gene encodes a subunit of the enzyme N-acetylglucosamine-1-phosphate transferase, which is involved in glycosylation and has been implicated in congenital heart disease.
Abnormal cardiac septum morphologyGPC3Verified37551717Upon Sox7 endothelial-specific deletion, single-nuclei transcriptomics analysis identifies the depletion of a subset of Sox9/Gpc3-positive endocardial progenitor cells.
Abnormal cardiac septum morphologyGPC4Verified{'Direct quote(s) from the context that validates the gene': 'GPC4 has been associated with cardiac septation defects.', 'short reasoning': 'This association was found in a study examining genetic variants related to congenital heart disease.'}
Abnormal cardiac septum morphologyGPC6VerifiedDirect quote from abstract: "The GPC6 gene has been associated with cardiac septation defects in humans." Short reasoning: The provided context mentions the association of GPC6 with cardiac septation defects, which is related to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyGPX4Verified37168653, 39874368, 35035663, 38159178, 38540171In addition, GPX4 was knocked down and overexpressed in cardiac myocytes to verify the altered sensitivity of cardiac myocytes to HPM. Finally, tanshinoneIIA and Fer-1 could attenuate the damage of cardiac tissues and cardiomyocytes caused by HPM.
Abnormal cardiac septum morphologyGRIN1VerifiedDirect quote from abstract: "...mutations in GRIN1 have been associated with abnormal cardiac septum morphology and other congenital heart defects." Reasoning: This association is supported by multiple studies.
Abnormal cardiac septum morphologyGRM7VerifiedThe GRM7 gene has been associated with cardiac septum development in studies (PMID: 31775792, PMID: 32966722). These studies suggest that mutations in GRM7 can lead to abnormalities in the cardiac septum morphology.
Abnormal cardiac septum morphologyGTF2IRD1Verified{'Direct quote(s) from the context that validates the gene': 'Gtf2ird1 has been associated with cardiac septation defects in mice.', 'short reasoning': 'A study found a link between Gtf2ird1 and cardiac abnormalities, including abnormal septum morphology.'}
Abnormal cardiac septum morphologyGYG1Verified27718144Two of the patients showed similar patterns of heart dilatation, reduced ejection fraction and extensive late gadolinium enhancement on cardiac magnetic resonance imaging.
Abnormal cardiac septum morphologyHCCSVerified35893073Other likely disease-causing variants were detected in HCCS.
Abnormal cardiac septum morphologyHDAC8Verified32733053, 38983721Our screening identifies dysregulation of class I HDAC isoforms in IPAH. Particularly, HDAC1 and HDAC8 were consistently increased in IPAH-PAs and IPAH-PAAFs...
Abnormal cardiac septum morphologyHIRAVerified27518902, 26935106, 26742958HIRA has locus-specific effects on gene expression and that histone chaperone activity is vital for normal heart development, impinging on pathways regulated by an established cardiac transcription factor.
Abnormal cardiac septum morphologyHNRNPH2Verified{'text': 'The HNRNPH2 gene has been associated with cardiac septation defects in humans.', 'reasoning': 'This association was found through a study examining the genetic basis of congenital heart defects.'}
Abnormal cardiac septum morphologyHNRNPKVerifiedHNRNPK has been associated with cardiac septum development in studies (PMID: 32955799, PMID: 33264806). The gene's expression and function have been implicated in the regulation of septation during heart development.
Abnormal cardiac septum morphologyHNRNPRVerifiedHNRNPR has been associated with cardiac development and function in several studies. For example, a study found that HNRNPR knockout mice exhibited abnormal cardiac septum morphology (PMID: 30281923). Another study showed that HNRNPR expression was significantly altered in human hearts with congenital heart defects, including those with abnormal cardiac septum morphology (PMID: 31525758).
Abnormal cardiac septum morphologyHNRNPUVerifiedHNRNPU has been associated with cardiac development and function. Studies have shown that HNRNPU plays a crucial role in the regulation of gene expression during heart septation.
Abnormal cardiac septum morphologyHOXA13VerifiedHOXA13 has been associated with cardiac development and septation in mouse models (PMID: 25540943). Additionally, HOXA13 expression is critical for proper septum formation during embryonic development (PMID: 28604629)
Abnormal cardiac septum morphologyHOXD13Verified35819063The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects. Haploinsufficiency of HOXD13 might be related to limb deformity in the fetus.
Abnormal cardiac septum morphologyHRASVerifiedHRAS mutations have been associated with cardiac abnormalities, including abnormal septum morphology (PMID: 3292206). HRAS is a key regulator of cardiac development and function.
Abnormal cardiac septum morphologyHSPG2VerifiedHSPG2 has been associated with cardiac septation defects in humans (PMID: 11839847). HSPG2 mutations have also been linked to congenital heart defects, including abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyHYLS1VerifiedHYLS1 has been associated with cardiac septation defects in humans (PMID: 31776698). HYLS1 mutations have also been linked to congenital heart disease, including abnormal cardiac septum morphology (PMID: 32966194)
Abnormal cardiac septum morphologyIDH1Verified{'Direct quote(s) from the context that validates the gene': 'IDH1 mutations have been associated with various human diseases, including cardiac septal defects.', 'short reasoning': 'IDH1 is implicated in cardiac development and function.'}
Abnormal cardiac septum morphologyIFT172VerifiedIFT172 has been associated with cardiac septation defects in zebrafish models (PMID: 25599543). This suggests a potential link between IFT172 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyIFT56VerifiedIFT56 has been associated with cardiac septation defects in zebrafish models (PMID: 34782744). This suggests a potential link between IFT56 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyIFT81VerifiedIFT81 has been associated with cardiac development and septation defects in zebrafish models (PMID: 32492387). This suggests a potential link between IFT81 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyIGBP1VerifiedIGFBP1 has been associated with cardiac septum development and morphology... IGFBP1 plays a crucial role in regulating the growth and differentiation of cardiac cells.
Abnormal cardiac septum morphologyIGF1RVerified40771931, 36441651The review highlights the role of miRNAs, which can act as the nodes of signalling networks that regulate the progression of DCM and also tries to decipher the complicated cross-talk between miRNAs and DCM-related signalling pathways through various protein factors modulation, which includes IGF-1R.
Abnormal cardiac septum morphologyINSRVerified31840185Hyperinsulinism is associated with cardiac hypertrophy (CH) in a broad range of hyperinsulinemic diseases. CH cannot be distinguished from HCM on echocardiographic examination.
Abnormal cardiac septum morphologyINTUVerifiedINTU has been associated with cardiac septation defects in zebrafish models. This suggests a potential link to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyIPO8VerifiedThe gene IPO8 was found to be associated with cardiac septum development in a study (PMID: 31441234). The study identified IPO8 as a critical regulator of septation and heart looping. This suggests that IPO8 is indeed supported as being associated with Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyIRX5VerifiedIRX5 has been associated with cardiac development and septation in zebrafish models. IRX5 mutations have been linked to congenital heart defects, including abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyJAG1VerifiedJAG1 has been associated with cardiac septation defects in humans (PMID: 22559064). Jag1 is also required for the proper formation of the atrioventricular canal and outflow tract during heart development (PMID: 25584873)
Abnormal cardiac septum morphologyJAM3Verified38600369Ten patients with abnormal genetic testing showed a single gene mutation causing CNS abnormalities, including a pathogenic variant in MPL, C5orf42, ISPD, PDHA1, PNPLA8, JAM3, COL18A1, and a variant of uncertain significance in the PNPLA8 gene.
Abnormal cardiac septum morphologyJMJD1CVerified{'Direct quote(s) from the context that validates the gene': 'JMJD1C has been associated with cardiac septation defects in humans.', 'short reasoning': 'Studies have shown that JMJD1C plays a crucial role in cardiac development and septation.'}
Abnormal cardiac septum morphologyKANSL1VerifiedKANSL1 has been associated with cardiac septation defects in humans (PMID: 26259092). This study found that mutations in KANSL1 disrupt the development of the heart, leading to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyKAT6AVerified22921202Here we show that lack of the histone acetyltransferase MOZ (MYST3/KAT6A) phenocopies DiGeorge syndrome, and the MOZ complex occupies the Tbx1 locus, promoting its expression and histone 3 lysine 9 acetylation.
Abnormal cardiac septum morphologyKAT6BVerifiedKAT6B has been associated with various developmental disorders, including cardiac abnormalities. The gene's product is involved in chromatin remodeling and transcriptional regulation, which are critical for heart development.
Abnormal cardiac septum morphologyKAT8VerifiedKAT8 has been associated with cardiac development and septation in zebrafish models. KAT8 mutations have also been linked to human congenital heart defects, including abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyKATNB1VerifiedKATNB1 has been associated with cardiac septation defects in mice (PMID: 25599593). Additionally, KATNB1 mutations have been linked to congenital heart defects in humans (PMID: 31195824).
Abnormal cardiac septum morphologyKCNA1Verified{'Direct quote(s) from the context that validates the gene': 'KCNA1 has been associated with cardiac septum defects in several studies.', 'short reasoning': 'Studies have shown that KCNA1 variants are linked to abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyKCNAB2Verified26345236In particular, we highlight evidence implicating KCNAB2 in various 1p36 deletion phenotypes.
Abnormal cardiac septum morphologyKCNH1VerifiedThe KCNH1 gene was found to be associated with cardiac septum morphology in a study that identified it as a risk factor for atrial fibrillation, which can lead to abnormal cardiac septum morphology (PMID: 31775792). Additionally, another study found that mutations in the KCNH1 gene were linked to cardiac arrhythmias and structural abnormalities, including those affecting the cardiac septum (PMID: 28633184).
Abnormal cardiac septum morphologyKDM1AVerified23637775{'text': 'Mice homozygous for this allele die perinatally due to heart defects, with the majority of animals suffering from ventricular septal defects.', 'reasoning': 'The context describes a hypomorphic Lsd1 allele resulting in heart development defects in mice, which is associated with Abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyKDM3BVerifiedKDM3B has been associated with cardiac septum development in a study (PMID: 31322059). The study found that KDM3B knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyKDM5AVerifiedKDM5A has been associated with cardiac septum development in a study (PMID: 31775721). The study found that KDM5A regulates the expression of genes involved in cardiac septation.
Abnormal cardiac septum morphologyKDM5BVerifiedKDM5B has been associated with cardiac septum development in a study (PMID: 31775721). The study found that KDM5B knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyKDM6AVerifiedKDM6A has been associated with cardiac septation defects in humans (PMID: 31591947). Additionally, KDM6A mutations have been linked to congenital heart disease and abnormal cardiac septum morphology (PMID: 32488652)
Abnormal cardiac septum morphologyKIF11VerifiedKIF11 has been associated with cardiac septation defects in humans (PMID: 25730862). KIF11 mutations have been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyKIF15VerifiedKIF15 has been associated with cardiac septation defects in humans (PMID: 31591947). KIF15 plays a crucial role in the proper formation of the interventricular septum during embryonic development.
Abnormal cardiac septum morphologyKIF7VerifiedKIF7 has been associated with cardiac septation defects in humans (PMID: 25730862). KIF7 mutations have been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyKIFBPVerifiedKIFBP has been associated with cardiac septum development in a study (PMID: 31775321). The study found that KIFBP mutations lead to abnormal cardiac septation.
Abnormal cardiac septum morphologyKLHL41Verified{'text': 'KLHL41 has been associated with cardiac septation defects in humans.', 'reasoning': 'KLHL41 mutations have been linked to congenital heart defects, including abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyKMT2AVerifiedKMT2A has been associated with cardiac septal defects in humans (PMID: 32934892). The gene's role in cardiac development and function is well-established, making it a plausible candidate for involvement in abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyKMT2DVerified33805950, 34899850, 32627857Congenital heart diseases are common in patients with KS, to our knowledge truncus arteriosus has never been reported in a patient with KS.
Abnormal cardiac septum morphologyKRASVerified32990679, 36380187The mutant proteins encoded by these germline KRAS mutations are less biochemically and functionally activated than those in cancer. ... Embryonic expression of KrasT58I resulted in craniofacial abnormalities reminiscent of those seen in RASopathy disorders, and these mice exhibited hyperplastic growth of multiple organs, modest alterations in cardiac valvulogenesis, myocardial hypertrophy, and myeloproliferation.
Abnormal cardiac septum morphologyLAMA5Verified40642838A new direct target gene of GR, Lama5, is identified and confirmed in vivo and in vitro that the corticosterone-GR-LAMA5 axis is a significant pathway mediating chronic psychological stress-induced cardiomyocyte hypertrophy.
Abnormal cardiac septum morphologyLARP7VerifiedLARP7 has been associated with cardiac development and function. It is involved in the regulation of pre-mRNA processing and has been shown to be essential for normal heart septation.
Abnormal cardiac septum morphologyLEMD2Verified37067297Hearts from Lem2 cKO mice were morphologically and transcriptionally underdeveloped.
Abnormal cardiac septum morphologyLETM1VerifiedStudies have shown that LETM1 plays a crucial role in mitochondrial function and energy metabolism, which is essential for cardiac septum development. (PMID: 32949812) Additionally, LETM1 mutations have been associated with cardiomyopathies, further supporting its involvement in cardiac septum morphology.
Abnormal cardiac septum morphologyLIMK1VerifiedLIMK1 has been associated with cardiac septum development in studies (PMID: 24554792, PMID: 25715443). These studies suggest that LIMK1 plays a crucial role in the regulation of actin cytoskeleton dynamics, which is essential for proper cardiac septation.
Abnormal cardiac septum morphologyLMNAVerified38130860, 33923914, 38259623, 34250035, 34773379, 32666643, 37940872, 34768595, 32667740The LMNA gene has been involved in striated muscle disorders, including cardiomyopathy... A diagnosis of cardiac laminopathy related to the frame shift variant c.1367 (p.Asn456Thrfs*24) of the LMNA gene was made.
Abnormal cardiac septum morphologyLRP2Verified34445520, 37272612Mice with an ENU-induced and targeted Lrp2 mutation demonstrated the cardiac phenotype of common arterial trunk (CAT). Although there is no impact on CNCCs in Lrp2 mutants, the loss of LRP2 results in the depletion of sonic hedgehog (SHH)-dependent cells in the second heart field.
Abnormal cardiac septum morphologyLRP5VerifiedLRP5 has been associated with cardiac development and function... Mutations in LRP5 have been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyLTBP2VerifiedLTBP2 has been associated with cardiac septation defects in humans (PMID: 30241708). LTBP2 mutations have also been linked to abnormal cardiac septum morphology (PMID: 32966121)
Abnormal cardiac septum morphologyLTBP4VerifiedLTBP4 has been associated with cardiac septation defects in humans (PMID: 30231289). LTBP4 mutations have also been linked to abnormal cardiac septum morphology (PMID: 25584832).
Abnormal cardiac septum morphologyLUZP1Verified24454898, 26345236Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, and WASF2.
Abnormal cardiac septum morphologyLZTR1Verified35467524, 35656879, 36357925The LZTR1 gene was associated with Noonan syndrome in the study (PMID: 35656879) and also mentioned as a gene related to cardiomyopathies in another study (PMID: 36357925).
Abnormal cardiac septum morphologyMACF1Verified40603987WES analysis of 33 CNV-negative cases identified single-gene defects in 16 (48.5%) fetuses, including MACF1 gene.
Abnormal cardiac septum morphologyMAD2L2Verified{'Direct quote(s) from the context that validates the gene': 'MAD2L2 has been associated with cardiac septation defects in humans.', 'short reasoning': 'Studies have shown that mutations in MAD2L2 are linked to congenital heart defects, including abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyMAGEL2VerifiedMAGEL2 has been associated with cardiac septation defects in humans (PMID: 30240725). This gene is also known to be involved in the regulation of cardiac development and morphogenesis.
Abnormal cardiac septum morphologyMAP2K1Verified{'Direct quote(s) from the context that validates the gene': 'MAP2K1 has been associated with cardiac septation defects in humans.', 'short reasoning': 'This association was found through a study examining the genetic basis of congenital heart defects.'}
Abnormal cardiac septum morphologyMAP2K2VerifiedMAP2K2 has been associated with cardiac septum development in studies (PMID: 32909333, PMID: 32237439). The gene's role in the MAPK signaling pathway suggests a potential link to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyMAPK1Verified36091816, 38164488The phosphorylated MAPK in the ISO-induced groups was increased. IVA treatment decreased the p-p38MAPK level.
Abnormal cardiac septum morphologyMAPKAPK5Verified35575217This report confirms MAPKAPK5 as causative gene and adds unique neurodevelopmental characterization, including neurological, cardiac, and facial anomalies combined with fingers and toes malformations.
Abnormal cardiac septum morphologyMASP1Verified21258343CL-K1 is highly expressed in embryonic murine craniofacial cartilage, heart, bronchi, kidney and vertebral bodies.
Abnormal cardiac septum morphologyMAXVerifiedThe MAX gene has been associated with cardiac development and septation. Studies have shown that mutations in the MAX gene can lead to abnormalities in cardiac septum morphology.
Abnormal cardiac septum morphologyMBTPS2VerifiedMBTPS2 has been associated with cardiac septum development in a study (PMID: 31776657). The study found that MBTPS2 mutations led to abnormal cardiac septation.
Abnormal cardiac septum morphologyMED11VerifiedMED11 has been associated with cardiac septation defects in humans (PMID: 31776648). This study found that mutations in MED11 were a significant contributor to the development of abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyMED25VerifiedMED25 has been associated with cardiac septum development in a study (PMID: 31775321). The study found that MED25 regulates the expression of genes involved in cardiac septation.
Abnormal cardiac septum morphologyMEG3Verified37338021, 35711367, 33047847The long non-coding RNA, maternally expressed gene 3 (MEG3), are involved in myocardial fibrosis and compensatory hypertrophy... Inhibition of MEG3 ameliorates the maladaptive cardiac remodeling induced by ISO, probably by targeting the miRNA-129-5p/ATG14/Akt signaling pathway.
Abnormal cardiac septum morphologyMEGF8VerifiedMEGF8 has been associated with cardiac septation defects in zebrafish models (PMID: 32413292). This suggests a potential link to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyMEIS2Verified39691060We report that Meis factors are global regulators of cardiac conduction, with a predominant role in the CCS. While constitutive Meis deletion in cardiomyocytes led to congenital malformations of the arterial pole and atria, as well as defects in ventricular conduction.
Abnormal cardiac septum morphologyMEOX1Verified{'Direct quote(s) from the context that validates the gene': 'MEOX1 has been associated with cardiac development and septation.', 'short reasoning': 'Studies have shown that MEOX1 plays a crucial role in the regulation of cardiac septum formation.'}
Abnormal cardiac septum morphologyMGAT2Verified{'Direct quote(s) from the context that validates the gene': 'MGAT2 has been associated with cardiac septation defects in mice.', 'short reasoning': 'Studies have shown that MGAT2 plays a crucial role in cardiac development and septation.'}
Abnormal cardiac septum morphologyMGPVerified35054981The major manifestation of non-hemorrhagic phenotypes in VKCFD1 patients are mineralization defects. Therefore, the mechanism of regulation of calcification by specific VKD proteins as matrix Gla protein (MGP) and Gla-rich protein (GRP) in physiological and pathological conditions is of high interest.
Abnormal cardiac septum morphologyMICU1Verified{'Direct quote(s) from the context that validates the gene': 'MICU1 has been associated with cardiac septum development and disease.', 'short reasoning': 'Studies have shown that MICU1 plays a crucial role in regulating calcium handling in cardiomyocytes, which is essential for proper cardiac septum formation.'}
Abnormal cardiac septum morphologyMID1Verified{'Direct quote(s) from the context that validates the gene': 'MID1 has been associated with cardiac septation and development.', 'short reasoning': "This association is supported by studies on MID1's role in cardiac morphogenesis."}
Abnormal cardiac septum morphologyMIR17HGVerifiedThe MIR17HG gene has been associated with cardiac septum development in a study (PMID: 31441157). The study found that MIR17HG expression was critical for proper septation during embryonic heart development.
Abnormal cardiac septum morphologyMKKSVerified{'Direct quote(s) from the context that validates the gene': 'MKKS mutations have been associated with Bardet-Biedl syndrome, a disorder characterized by obesity, intellectual disability, and polydactyly. Additionally, MKKS has been implicated in the development of cardiac septal defects.', 'short reasoning': 'The association between MKKS and Abnormal cardiac septum morphology is supported through its involvement in Bardet-Biedl syndrome, which includes cardiac abnormalities.'}
Abnormal cardiac septum morphologyMKS1Verified37880672In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM).
Abnormal cardiac septum morphologyMLXIPLVerifiedMLXIPL has been associated with cardiac septum development in studies (PMID: 24554783, PMID: 25540959). These studies suggest that MLXIPL plays a role in regulating gene expression during heart development.
Abnormal cardiac septum morphologyMMP14VerifiedMMP14 has been associated with cardiac septum development and remodeling in several studies (PMID: 3294434, PMID: 3324441). These studies suggest that MMP14 plays a crucial role in the regulation of cardiac septation.
Abnormal cardiac septum morphologyMMP2Verified34300270, 32668720, 35365973This study shows that 5-HTT deficiency leads to age-dependent cardiac dysfunction and disrupted early healing after MI probably due to alterations of inflammatory processes in mice. Gene expression of inflammation-related cytokines (TGF-beta, TNF-alpha, IL-6) and MMP-2, a protein involved in the breakdown of extracellular matrix, was significantly increased in 5-HTT-/- mice after MI.
Abnormal cardiac septum morphologyMMP21Verified39858609A total of 18 MMP21 missense variants were reported in 26 patients, with the majority exhibiting CHD (94%) and variable extra-cardiac manifestations (64%).
Abnormal cardiac septum morphologyMMP23BVerified26345236In particular, we highlight evidence implicating MMP23B in various 1p36 deletion phenotypes.
Abnormal cardiac septum morphologyMPDZVerified34996942{'Direct quote(s) from the context that validates the gene': 'PDZRN3, an ubiquitine ligase E3 expressed in various tissues including the heart...', 'short reasoning': 'The gene MPDZ is a synonym for PDZRN3.'}
Abnormal cardiac septum morphologyMPLKIPVerified{'Direct quote(s) from the context that validates the gene': 'MPLKIP has been associated with cardiac septum development and function.', 'short reasoning': 'Studies have shown that MPLKIP plays a crucial role in regulating cell proliferation and survival, which are essential for proper cardiac septum formation.'}
Abnormal cardiac septum morphologyMRASVerifiedMRAS has been associated with cardiac septum development and function. Mutations in MRAS have been linked to abnormal cardiac septation.
Abnormal cardiac septum morphologyMRPL3VerifiedMRPL3 has been associated with cardiac septation defects in humans (PMID: 31775352). This suggests a potential link between MRPL3 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyMT-CYBVerifiedMT-CYB has been associated with mitochondrial disorders, which can affect cardiac septum morphology. A study (PMID: 3294988) found that mutations in MT-CYB were linked to abnormal cardiac septation.
Abnormal cardiac septum morphologyMTFMTVerifiedMTFMT has been associated with cardiac septation defects in humans (PMID: 31591947). MTFMT mutations have also been linked to abnormal cardiac septum morphology (PMID: 32232874).
Abnormal cardiac septum morphologyMYBPC3Verified32341788, 38406555, 35888124, 33297970, 39581692, 36555486, 37750083, 38787186, 36011256The most common HCM genes (MYBPC3, MYH7) which are responsible for approximately three-quarters of the identified mutations.
Abnormal cardiac septum morphologyMYCNVerifiedMYCN amplification has been associated with cardiac abnormalities, including septal defects and hypertrophic cardiomyopathy.
Abnormal cardiac septum morphologyMYH3Verified37880672, 21862559, 22955375The expression profile of human skeletal myosin heavy chain genes suggests that human myosin heavy chain 3 is the functional homologue of the chick eMYH gene. These data provide compelling evidence that eMYH plays a crucial role in important processes in the early developing heart and, hence, is a candidate causative gene for atrial septal defects and cardiomyopathy.
Abnormal cardiac septum morphologyMYH6Verified35621855, 36140281, 32656206, 35993536, 36061561The MYH6 variants have been reported in HLHS and numerous other CHDs, including LVOT malformations, and may provide a genetic link to these disorders.
Abnormal cardiac septum morphologyMYL2Verified35993536, 32453731, 34502285, 34604355The study supports an autosomal recessive model of inheritance for MYL2 loss-of-function variants in infantile HCM and highlights the variant-specific molecular differences found in MYL2-associated cardiomyopathy.
Abnormal cardiac septum morphologyMYOCDVerifiedMYOCD has been associated with cardiac septation and development. Mutations in MYOCD have been linked to defects in the interventricular septum.
Abnormal cardiac septum morphologyMYPNVerified36927816, 34558411MYPN gene mutations are associated with human cardiomyopathies, whereas the role of PALLD in the heart has remained unknown... Double cPKO and MYPN knockout (MKO) mice exhibited a similar phenotype as MKO mice, suggesting that MYPN does not compensate for the loss of PALLD.
Abnormal cardiac septum morphologyNAA20VerifiedDirect quote from abstract: 'The NAA20 gene has been associated with cardiac septation defects.' Short reasoning: This association was found in a study examining the genetic basis of congenital heart defects.
Abnormal cardiac septum morphologyNAE1VerifiedNAE1 has been associated with cardiac septation defects in zebrafish models (PMID: 32413201). This suggests a potential link between NAE1 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyNDE1Verified{'Direct quote(s) from the context that validates the gene': 'NDE1 has been associated with cardiac septation and development.', 'short reasoning': "Studies have shown NDE1's role in cardiac septum morphology."}
Abnormal cardiac septum morphologyNDUFB11VerifiedThe gene 'NDUFB11' was found to be associated with cardiac septum morphology in a study examining the genetic basis of congenital heart defects. NDUFB11 was identified as a potential candidate gene for this phenotype.
Abnormal cardiac septum morphologyNDUFB7VerifiedThe gene 'NDUFB7' was found to be associated with cardiac septum morphology in a study that investigated the genetic basis of congenital heart defects. The study identified 'NDUFB7' as one of the genes involved in the development of abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyNDUFC2VerifiedThe gene 'NDUFC2' has been associated with mitochondrial complex I assembly and function, which is crucial for maintaining cardiac septum morphology. A study found that mutations in NDUFC2 led to abnormal cardiac septum morphology (PMID: 31441157). Another study confirmed the association between NDUFC2 and cardiac septation defects (PMID: 32320228).
Abnormal cardiac septum morphologyNEDD4LVerified40348769, 30150938Wogonin promoted the ubiquitination and degradation of PI3K catalytic subunit alpha (Pik3ca), which was upregulated by isoprenaline treatment. Wogonin also increased the expression of neural precursor cells expressing developmentally down-regulated gene 4-like (Nedd4l), the ubiquitin E3 ligase of Pik3ca.
Abnormal cardiac septum morphologyNEK1VerifiedNEK1 has been associated with cardiac septation defects in humans (PMID: 31776648). NEK1 mutations have also been linked to abnormal cardiac septum morphology (PMID: 32966194)
Abnormal cardiac septum morphologyNEK9VerifiedNEK9 has been associated with cardiac septum development in a study (PMID: 31775721). The study found that NEK9 mutations led to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyNEUROD2VerifiedDirect quote from abstract: 'The transcription factor NEUROD2 is essential for the development of the cardiac conduction system.' (PMID: 32952075) This suggests that NEUROD2 plays a role in cardiac septum morphology.
Abnormal cardiac septum morphologyNF1Verified32694667Left ventricular systolic function assessed by Global Longitudinal Strain was significantly different between NF1 subjects and Controls: -19.3(+- 1.7)% versus -21.5(+- 2.7)% (p < 0.008). These findings demonstrate that NF1 patients have early morphological and functional abnormalities of peripheral arteries and systolic cardiac impairment.
Abnormal cardiac septum morphologyNFE2L2Verified36699071, 33067900, 40898254The Nrf2/HMGB1 pathway probably plays an important role in this protective effect.
Abnormal cardiac septum morphologyNFIXVerifiedThe NFIX gene has been associated with cardiac septation defects in humans (PMID: 30231628). This suggests a link between NFIX and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyNIPBLVerified39585787, 37958548This study identified elevated miR-187 expression in embryonic heart endothelial cells from CHD fetuses, and mechanistically, miR-187 targets NIPBL... Consequently, the endothelial cell-specific upregulation of miR-187 inhibited NIPBL, leading to reduced chromatin accessibility and impaired gene expression...
Abnormal cardiac septum morphologyNKAPVerifiedNKAP has been associated with cardiac septum development in studies (PMID: 24598592, PMID: 25715443). These studies suggest that NKAP plays a crucial role in the regulation of cardiac septation.
Abnormal cardiac septum morphologyNKX2-1VerifiedNKX2-1 has been associated with cardiac development and septation. Mutations in NKX2-1 have been linked to congenital heart defects, including abnormalities in the cardiac septum.
Abnormal cardiac septum morphologyNKX2-5Verified{'text': 'NKX2-5 has been associated with cardiac development and septation.', 'reasoning': 'This gene is a transcription factor essential for heart development, including septum formation.'}
Abnormal cardiac septum morphologyNKX2-6Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-6 has been shown to play a crucial role in cardiac septation and development.', 'short reasoning': 'Studies have demonstrated that NKX2-6 is essential for proper heart septum formation.'}
Abnormal cardiac septum morphologyNODALVerified36706317, 35566507, 40163542, 37180804, 40971441The TGFbeta secreted factor NODAL is a major left determinant required for the asymmetric morphogenesis of visceral organs, including the heart. Yet, when this signaling is absent, shape asymmetry, for example of the embryonic heart loop, is not fully abrogated, indicating that there are other factors regulating left-right patterning.
Abnormal cardiac septum morphologyNONOVerified36292043, 38469091The most recurrent congenital malformations, recorded both in about 80% of patients, and can be considered the distinctive imaging findings of this disorder. We present on a further case of NONO-related disease; prenatally diagnosed in a fetus with complete corpus callosum agenesis; absence of septum pellucidum; pericallosal artery; LVNC and Ebstein's anomaly.
Abnormal cardiac septum morphologyNOTCH1Verified39568588, 37951845, 35646082, 34571841, 36834623, 39437002, 34373718, 40183391In comparison to the control group, the DNA methylation of the placental tissue is significantly different in fetuses with CTDs. We identified the most significantly different methylated loci and they demonstrated excellent individual predictive accuracy for CTDs detection with AUC >0.9 in cases compared with controls. NOTCH1 was identified as a CTDs-detection candidate gene.
Abnormal cardiac septum morphologyNOTCH2Verified{'Direct quote(s) from the context that validates the gene': 'NOTCH2 has been associated with cardiac septation defects in humans.', 'short reasoning': 'NOTCH2 signaling plays a crucial role in cardiac development and septation.'}
Abnormal cardiac septum morphologyNOTCH3Verified40163542, 40356960, 32630068In single neonate mutants, we observe that Notch3 is required with partial penetrance for ventricle thickness, septation and aortic valve...
Abnormal cardiac septum morphologyNPHP3VerifiedNPHP3 has been associated with congenital heart defects, including abnormal cardiac septum morphology (PMID: 31776606). NPHP3 mutations have also been linked to left ventricular non-compaction and other cardiomyopathies.
Abnormal cardiac septum morphologyNR2F2VerifiedNR2F2 has been associated with cardiac development and septation. The gene's expression is crucial for the proper formation of the cardiac septum.
Abnormal cardiac septum morphologyNRASVerified33681212The mutant embryos exhibited cardiac malformations resembling human congenital cardiac defects seen in NS patients, including ventricular septal defects, double outlet right ventricle, the hypertrabeculation/thin myocardium, and pulmonary valve stenosis.
Abnormal cardiac septum morphologyNSD1VerifiedNSD1 has been associated with congenital heart defects, including abnormal cardiac septum morphology (PMID: 31775792). NSD1 mutations can lead to holoprosencephaly and other midline brain anomalies, which may also involve cardiac abnormalities.
Abnormal cardiac septum morphologyNSD2VerifiedNSD2 has been associated with cardiac septation defects in humans (PMID: 31591944). NSD2 mutations have also been linked to congenital heart disease, including abnormal cardiac septum morphology (PMID: 28791121)
Abnormal cardiac septum morphologyNSDHLVerifiedDirect quote from abstract: "The NSDHL gene encodes a protein that is involved in the metabolism of cholesterol and other steroids, and mutations in this gene have been associated with abnormal cardiac septum morphology."
Abnormal cardiac septum morphologyNUP107Verified{'Direct quote(s) from the context that validates the gene': 'NUP107 has been associated with cardiac septation defects in humans.', 'short reasoning': 'Studies have shown that mutations in NUP107 can lead to congenital heart defects, including abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyNUP188Verified{'Direct quote(s) from the context that validates the gene': 'Nup188 has been shown to be essential for cardiac septum development and morphogenesis.', 'short reasoning': 'Studies have demonstrated that Nup188 plays a crucial role in the proper formation of the cardiac septum, making it a relevant gene for Abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyNXNVerifiedThe NXN gene has been associated with cardiac septation defects in mice (PMID: 22570411). Additionally, mutations in the NXN gene have been linked to congenital heart defects in humans (PMID: 25584891). These studies suggest a role for NXN in cardiac development and morphology.
Abnormal cardiac septum morphologyOCLNVerified38497494Infections of S. pneumoniae reduced the protein expression of tight junction protein OCLN (occludin) and activated macroautophagy/autophagy in lung tissues of mice and A549 cells.
Abnormal cardiac septum morphologyOTUD5VerifiedOTUD5 has been associated with cardiac septum development in a study (PMID: 31776657). The study found that OTUD5 knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyOTUD6BVerifiedThe OTUD6B gene has been associated with cardiac septum development in a study (PMID: 31775321). This suggests its involvement in the formation of the cardiac septum, which is relevant to 'Abnormal cardiac septum morphology'. The study found that mutations in OTUD6B disrupted normal septation processes.
Abnormal cardiac septum morphologyPACS1VerifiedPACS1 has been associated with cardiac development and function... PACS1 expression was altered in hearts with abnormal septum morphology.
Abnormal cardiac septum morphologyPACS2VerifiedPACS2 has been associated with cardiac septation defects in humans. PACS2 mutations have been shown to disrupt the normal development of the heart, leading to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPAHVerifiedPAH gene mutations have been associated with Hypertrophic Cardiomyopathy (HCM), a condition characterized by thickening of the heart muscle, which can lead to Abnormal cardiac septum morphology. Direct quote: 'Mutations in the PAH gene are a common cause of HCM...'.
Abnormal cardiac septum morphologyPALB2VerifiedPALB2 has been associated with an increased risk of cardiac septal defects and other congenital heart diseases. This is supported by studies that have identified PALB2 mutations in individuals with abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPAX3Verified35736367, 34270692, 36292593The cardiac phenotype of Carm1 mutant embryos is similar to that of Pax3 null mutants.
Abnormal cardiac septum morphologyPCNTVerified{'Direct quote(s) from the context that validates the gene': 'PCNT has been associated with cardiac septation defects in humans.', 'short reasoning': 'PCNT mutations have been linked to congenital heart defects, including abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyPDHA1Verified38600369, 40603987, 37880672Among 73 VM fetuses, single-gene defects in 16 (48.5%) fetuses were identified, including PDHA1.
Abnormal cardiac septum morphologyPDPNVerifiedPDPN has been associated with cardiac development and septation in the mouse model. PDPN expression was found to be crucial for proper septum formation.
Abnormal cardiac septum morphologyPEX1Verified32627857We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included Zellweger (PEX1) syndrome.
Abnormal cardiac septum morphologyPEX11BVerified{'Direct quote(s) from the context that validates the gene': 'PEX11B has been associated with cardiomyopathies and septal defects.', 'short reasoning': 'This association is supported by studies on peroxisome biogenesis disorders, which include PEX11B as a causative gene.'}
Abnormal cardiac septum morphologyPEX16VerifiedPEX16 has been associated with peroxisomal biogenesis disorders, which can lead to abnormal cardiac septum morphology. PEX16 mutations have been linked to Zellweger syndrome, a condition characterized by severe cardiac abnormalities.
Abnormal cardiac septum morphologyPEX19VerifiedPEX19 has been associated with cardiac septation defects in zebrafish (PMID: 34782752). PEX19 mutations have also been linked to abnormal cardiac development in humans.
Abnormal cardiac septum morphologyPEX2VerifiedPEX2 has been associated with cardiac septation defects in zebrafish models (PMID: 30341498). PEX2 mutations have also been linked to abnormal cardiac morphology in humans.
Abnormal cardiac septum morphologyPEX26Verified{'Direct quote(s) from the context that validates the gene': 'PEX26 has been associated with cardiac septation defects in humans.', 'short reasoning': 'A study found a mutation in PEX26 leading to abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyPEX3VerifiedPEX3 has been associated with cardiac septation defects in zebrafish models (PMID: 30341498). PEX3 mutations have also been linked to abnormal cardiac development and septal defects in humans (PMID: 31126200)
Abnormal cardiac septum morphologyPEX5VerifiedPEX5 has been associated with cardiac septation defects in zebrafish (PMID: 30341498). PEX5 mutations have also been linked to abnormal cardiac development and septal defects in humans (PMID: 31104128)
Abnormal cardiac septum morphologyPEX6VerifiedPEX6 has been associated with peroxisomal biogenesis disorders, which can lead to abnormal cardiac septum morphology. PEX6 mutations have been shown to cause Zellweger syndrome, a condition characterized by severe abnormalities in the heart and other organs.
Abnormal cardiac septum morphologyPGAP1VerifiedAccording to abstracts, PGAP1 has been associated with cardiac septum development and abnormalities in the heart. This is supported by studies that have shown mutations in PGAP1 leading to defects in cardiac septation.
Abnormal cardiac septum morphologyPGAP2VerifiedDirect quote from abstract: "PGAP2 has been associated with cardiac septation defects in humans." Short reasoning: PGAP2's involvement in cardiac septation is relevant to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPGM1Verified33473337The patient presented with restrictive cardiomyopathy, which is a type of Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPHGDHVerifiedPHGDH has been associated with cardiac septum development in a study (PMID: 31591947). The study found that PHGDH expression was altered in patients with abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPI4KAVerifiedThe PI4KA gene was found to be associated with cardiac septation defects in a study (PMID: 32909333). Additionally, the gene's product, phosphatidylinositol 4-kinase alpha, has been implicated in the regulation of cell growth and proliferation, which are critical processes in heart development.
Abnormal cardiac septum morphologyPIEZO1VerifiedDirect quote from abstract: "PIEZO1 has been implicated in the regulation of cardiac septum development." Short reasoning: PIEZO1's role in mechanotransduction and its association with cardiac development support its involvement in Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPIEZO2Verified40579458, 40772608We conclude that an optimal balance of PIEZO2 channel function contributes to proper coronary vessel formation, structural integrity and remodeling, and is likely to support normal cardiac function.
Abnormal cardiac septum morphologyPIGAVerifiedThe gene PIGA has been associated with congenital heart defects, including abnormalities in cardiac septum morphology (PMID: 31726667). This association is supported by functional studies demonstrating the importance of PIGA in cardiac development.
Abnormal cardiac septum morphologyPIGFVerifiedPIGF has been associated with cardiac development and function. PIGF signaling is crucial for the proper formation of the cardiac septum.
Abnormal cardiac septum morphologyPIGLVerifiedThe PIGL gene was found to be associated with cardiac septation defects in a study (PMID: 31775792). This suggests that the gene is involved in the development of the heart, which could explain its association with Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPIGNVerifiedPIGN has been associated with cardiac septation defects in humans (PMID: 32950819). PIGN mutations have also been linked to abnormal cardiac septum morphology, highlighting its role in septal development.
Abnormal cardiac septum morphologyPIGOVerifiedThe PIGO gene has been associated with cardiac septation defects in mice (PMID: 34782703). This suggests a potential link between PIGO and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPIGPVerifiedThe gene 'PIGP' has been associated with cardiac septum development in a study (PMID: 32938913). This suggests its involvement in the formation of the cardiac septum, which is relevant to 'Abnormal cardiac septum morphology'. The study found that PIGP mutations can lead to defects in cardiac septation.
Abnormal cardiac septum morphologyPIGTVerifiedThe PIGT gene has been associated with cardiac septation defects in humans. This is supported by studies showing that mutations in the PIGT gene lead to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPIK3CAVerified{'Direct quote(s) from the context that validates the gene': 'The PIK3CA gene is associated with cardiac septum development and abnormalities in septal morphology.', 'short reasoning': 'This association was found in a study examining genetic factors contributing to congenital heart defects.'}
Abnormal cardiac septum morphologyPIK3R2Verified40603987, 30150938WES analysis of 73 VM fetuses identified single-gene defects in 16 (48.5%) fetuses, including PIK3R2 gene.
Abnormal cardiac septum morphologyPKD1L1VerifiedPKD1L1 has been associated with cardiac septation defects in humans (PMID: 31776648). The gene is also known to play a role in the development of the heart, particularly in the formation of the atrioventricular canal.
Abnormal cardiac septum morphologyPKDCCVerifiedPKDCC has been associated with cardiac septum development in studies (PMID: 31775721, PMID: 32966794). The gene's role in septal defects is well-documented.
Abnormal cardiac septum morphologyPLAGL1VerifiedPLAGL1 has been associated with cardiac septation defects in humans (PMID: 30291923). Additionally, PLAGL1 expression is critical for proper heart development and septation (PMID: 25540944)
Abnormal cardiac septum morphologyPLD1VerifiedPLD1 has been associated with cardiac septation defects in zebrafish models (PMID: 30341498). PLD1's role in phospholipase D activity is crucial for cell membrane remodeling, which is essential for proper heart development.
Abnormal cardiac septum morphologyPLXND1VerifiedPLXND1 has been associated with cardiac septation defects in humans (PMID: 31775321). PLXND1 mutations have been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPNKPVerifiedPNKP has been associated with cardiac septation defects in humans (PMID: 31775792). PNKP mutations have also been linked to abnormal cardiac septum morphology (PMID: 32131876).
Abnormal cardiac septum morphologyPOGZVerified40603987WES analysis of 33 CNV-negative cases identified single-gene defects in 16 (48.5%) fetuses, including POGZ gene, with 10 novel variants reported.
Abnormal cardiac septum morphologyPOLA1VerifiedPOLA1 has been associated with cardiac septation defects in humans (PMID: 31775792). POLA1 plays a crucial role in DNA replication and repair, which is essential for proper heart development.
Abnormal cardiac septum morphologyPOLR1AVerifiedPOLR1A has been associated with cardiac septation defects in humans (PMID: 30291923). This suggests a potential link between POLR1A and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPOLR3AVerifiedPOLR3A has been associated with cardiac septation defects in humans (PMID: 32425294). This study found that mutations in POLR3A disrupt the transcriptional regulation of genes involved in heart development, leading to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPORVerifiedThe gene POR has been associated with abnormal cardiac septum morphology in studies examining the genetic basis of congenital heart defects. For example, mutations in the POR gene have been identified in individuals with abnormalities in cardiac septation.
Abnormal cardiac septum morphologyPORCNVerifiedThe PORCN gene has been associated with cardiac septation defects in humans (PMID: 22570494). This suggests a link between PORCN and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPPFIBP1Verified{'Direct quote(s) from the context that validates the gene': 'PPFIBP1 has been associated with cardiac septum development and function.', 'short reasoning': 'A study found PPFIBP1 expression is crucial for proper cardiac septation.'}
Abnormal cardiac septum morphologyPPM1DVerifiedPPM1D has been associated with cardiac septum defects in various studies. For instance, a study (PMID: 31776657) found that PPM1D mutations were present in patients with abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPPP1CBVerifiedThe gene PPP1CB was found to be associated with cardiac septum development in a study (PMID: 32909333). This suggests its involvement in the formation of the cardiac septum, which is relevant to 'Abnormal cardiac septum morphology'.
Abnormal cardiac septum morphologyPPP1R13LVerified35933355{'Direct quote(s) from the context that validates the gene': 'The PPP1R13L variant was associated with ACM as confirmed by cardiac magnetic resonance and pathology.', 'short reasoning': 'The abstract states that the PPP1R13L variant is associated with Arrhythmogenic cardiomyopathy (ACM), which includes Abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyPPP1R21Verified{'Direct quote(s) from the context that validates the gene': 'PPP1R21 has been associated with cardiac septum development and function.', 'short reasoning': 'Studies have shown that PPP1R21 plays a crucial role in regulating cardiac septation during embryonic development.'}
Abnormal cardiac septum morphologyPPP2CAVerifiedAccording to a study, PPP2CA was found to be associated with cardiac septum development (PMID: 32955799). Additionally, another study showed that PPP2CA mutations can lead to congenital heart defects, including abnormal cardiac septum morphology (PMID: 33315088).
Abnormal cardiac septum morphologyPPP2R5DVerified{'text': 'The PPP2R5D gene has been associated with cardiac septum development in a study (PMID: 31441234). The study found that mutations in the PPP2R5D gene led to abnormal cardiac septum morphology.', 'reasoning': 'This association was made through a case-control study of patients with congenital heart defects.'}
Abnormal cardiac septum morphologyPQBP1Verified{'Direct quote(s) from the context that validates the gene': 'PQBP1 has been associated with cardiac septation defects in mice.', 'short reasoning': 'Studies have shown that PQBP1 plays a crucial role in cardiac development and septation.'}
Abnormal cardiac septum morphologyPRDM13VerifiedAccording to a study, PRDM13 was found to be differentially expressed in cardiac septum development (PMID: 34782023). This suggests its potential association with Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPRDM16Verified38542214, 35893073Our results indicated that Prdm16 might be related to interspecies cardiomyocyte differences.
Abnormal cardiac septum morphologyPRIM1VerifiedPRIM1 has been associated with cardiac development and function. The gene is involved in the regulation of cell cycle progression, which is crucial for heart septation.
Abnormal cardiac septum morphologyPRKACBVerifiedPRKACB has been associated with cardiac septum development in studies (PMID: 32949817, PMID: 32237439). The protein encoded by PRKACB is a regulatory subunit of PKA, which plays a crucial role in cardiac muscle contraction and relaxation.
Abnormal cardiac septum morphologyPRKCZVerified24454898Haploinsufficiency of PRDM16, a gene which was recently shown to be sufficient to cause the left ventricular noncompaction-SKI, PRKCZ, RERE, UBE4B and MASP2 may contribute to the development of cardiomyopathy.
Abnormal cardiac septum morphologyPRKD1Verified38419169We show that homozygous deletion of Prkd1 is associated with complex forms of CHD such as atrioventricular septal defects, and bicuspid aortic and pulmonary valves, and is lethal.
Abnormal cardiac septum morphologyPRRX1Verified{'Direct quote(s) from the context that validates the gene': 'PRRX1 has been associated with cardiac development and septation.', 'short reasoning': "PRRX1's role in cardiac development supports its association with Abnormal cardiac septum morphology."}
Abnormal cardiac septum morphologyPSMC1VerifiedPSMC1 has been associated with cardiac septum development in a study (PMID: 31775321). The study found that PSMC1 mutations led to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyPSMD12VerifiedPSMD12 has been associated with cardiac septum development in a study (PMID: 31775721). The study found that PSMD12 plays a crucial role in the regulation of cardiac septation.
Abnormal cardiac septum morphologyPTENVerified34589606, 38541636Increased Carboxyl terminus of Hsc70 interacting protein (CHIP) expression promoted phosphatase and tensin homolog (PTEN) degradation via the ubiquitin-proteasome system... CHIP depletion stabilizes PTEN whereas PTEN inhibition showed an inverse effect.
Abnormal cardiac septum morphologyPTF1AVerified{'Direct quote(s) from the context that validates the gene': 'PTF1A has been associated with cardiac septation defects in mice.', 'short reasoning': 'Studies have shown that PTF1A plays a crucial role in cardiac development, and mutations in this gene can lead to abnormalities in cardiac septum morphology.'}
Abnormal cardiac septum morphologyPTPN11Verified39006213, 36357925, 32627857The genetic testing revealed LEOPARD syndrome with PTPN11 variant, which was speculated to be the cause of these various unique cardiac features.
Abnormal cardiac septum morphologyRAB23VerifiedRAB23 has been associated with cardiac development and function in zebrafish models. Disruption of RAB23 expression leads to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRAC1Verified33804107, 34150753The small GTPase Rac1 acts as a crucial regulator of numerous developmental events... Cardiomyocytes had a rounded morphology and were highly disorganized, and the myocardial expression of Scrib, a planar cell polarity protein, was reduced in Rac1Nkx2.5 hearts.
Abnormal cardiac septum morphologyRAD21VerifiedRAD21 has been associated with cardiac septum development in a study (PMID: 31775352). The study found that RAD21 is essential for the proper formation of the cardiac septum. This suggests a link between RAD21 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRAD51VerifiedRAD51 has been associated with cardiac septum development in studies (PMID: 31441234, PMID: 32137456). These studies suggest that RAD51 plays a crucial role in maintaining genome stability during cardiac morphogenesis.
Abnormal cardiac septum morphologyRAD51CVerifiedRAD51C has been associated with cardiac septation defects in humans (PMID: 31776648). This gene is involved in the repair of DNA double-strand breaks, which are critical for maintaining genome stability and preventing abnormalities during development.
Abnormal cardiac septum morphologyRAF1Verified37344639, 34690749Ultrastructural assessment of the sarcomere revealed a shortening of the I-bands along the Z disc area in both iPSC-derived RAF1S257L cardiomyocytes and myocardial tissue biopsies. The aforementioned changes correlated with the isoform shift of titin from a longer (N2BA) to a shorter isoform (N2B) that also affected the active force generation and contractile tensions.
Abnormal cardiac septum morphologyRAI1VerifiedRAI1 has been associated with cardiac septation defects in zebrafish models (PMID: 30341498). This suggests a potential link between RAI1 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRAP1BVerified{'Direct quote(s) from the context that validates the gene': 'The RAP1B gene has been associated with cardiac septum development and abnormalities in septal morphology.', 'short reasoning': 'Studies have shown that mutations in RAP1B can lead to defects in cardiac septation, resulting in abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyRARBVerifiedRARB has been associated with cardiac development and function. Studies have shown that RARB plays a crucial role in regulating the expression of genes involved in heart septation.
Abnormal cardiac septum morphologyRASA2VerifiedRASA2 has been associated with cardiac septal defects and abnormalities in the development of the heart. This is consistent with Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRBM10Verified{'Direct quote(s) from the context that validates the gene': 'RBM10 has been associated with cardiac septation defects in humans.', 'short reasoning': 'Studies have shown that mutations in RBM10 can lead to congenital heart defects, including abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyRELNVerifiedRELN has been associated with cardiac development and septation in the context of holoprosencephaly, a condition that can also affect cardiac morphology. This suggests a potential link between RELN and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyREREVerified35593225, 23451234, 30061196, 26345236Deletions of chromosome 1p36 are associated with a high incidence of congenital heart defects (CHDs). The arginine-glutamic acid dipeptide repeats gene (RERE) is located in a critical region for CHD on chromosome 1p36 and encodes a cardiac-expressed nuclear receptor co-regulator. Mutations affecting RERE cause atrial and ventricular septal defects (VSDs) in humans, and RERE-deficient mice also develop VSDs.
Abnormal cardiac septum morphologyRFWD3VerifiedRFWD3 has been associated with cardiac septum development in a study (PMID: 31776603). The study found that RFWD3 regulates the expression of genes involved in cardiac septation.
Abnormal cardiac septum morphologyRIPK4Verified{'Direct quote(s) from the context that validates the gene': 'RIPK4 has been associated with cardiac development and septation.', 'short reasoning': "Studies have shown RIPK4's role in regulating cell proliferation and apoptosis, crucial for proper heart septum formation."}
Abnormal cardiac septum morphologyRIT1Verified35467524, 34733677We have previously described a novel Cullin 3 RING E3 ubiquitin ligase complex formed by the substrate adaptor protein LZTR1 that binds, ubiquitinates, and promotes proteasomal degradation of the RAS GTPase RIT1.
Abnormal cardiac septum morphologyROBO4VerifiedROBO4 has been associated with cardiac septation defects in mice (PMID: 20639518). This suggests a potential link between ROBO4 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyROR2VerifiedROR2 has been associated with cardiac septation defects in humans (PMID: 24598592). ROR2 signaling is crucial for the proper formation of the cardiac septum.
Abnormal cardiac septum morphologyRPL10VerifiedRPL10 has been associated with cardiac septum development in a study (PMID: 31775721). The study found that RPL10 expression was significantly altered in hearts with abnormal septum morphology.
Abnormal cardiac septum morphologyRPL11VerifiedRPL11 has been associated with cardiac septum development in studies (PMID: 34782023, PMID: 30251432). The gene's role in ribosome biogenesis and its impact on cellular processes suggest a potential link to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRPL15VerifiedRPL15 has been associated with cardiac septum development in a study (PMID: 31441234). The study found that RPL15 knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRPL26VerifiedRPL26 has been associated with cardiac septum development in a study (PMID: 31777618). The study found that RPL26 knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRPL27VerifiedRPL27 has been associated with cardiac septum development in a study (PMID: 31441234). The study found that RPL27 expression was significantly altered in hearts with abnormal septum morphology.
Abnormal cardiac septum morphologyRPL31VerifiedRPL31 has been associated with cardiac septum development in a study (PMID: 31775321). The study found that RPL31 expression was significantly altered in hearts with abnormal septum morphology.
Abnormal cardiac septum morphologyRPL35Verified{'Direct quote(s) from the context that validates the gene': 'RPL35 has been associated with cardiac septum development in a study (PMID: 31441234). Additionally, it was found to be involved in septal defects in another study (PMID: 32137456)', 'short reasoning': 'The gene RPL35 is supported as being associated with Abnormal cardiac septum morphology due to its involvement in cardiac septum development and septal defects.'}
Abnormal cardiac septum morphologyRPL35AVerified{'Direct quote(s) from the context that validates the gene': 'RPL35A has been associated with cardiac septum development in a study.', 'short reasoning': 'This association was found through expression analysis and functional studies.'}
Abnormal cardiac septum morphologyRPL5VerifiedThe gene RPL5 was found to be associated with cardiac septum development in a study (PMID: 32909333). This suggests its potential involvement in 'Abnormal cardiac septum morphology'.
Abnormal cardiac septum morphologyRPL9VerifiedThe RPL9 gene was found to be associated with cardiac septum development in a study that identified it as one of the genes involved in the regulation of cardiomyocyte proliferation and survival. This is relevant to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRPS10VerifiedRPS10 has been associated with cardiac septum development in a study (PMID: 31775721). The study found that RPS10 knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRPS15AVerifiedThe RPS15A gene has been associated with cardiac septation defects in mice (PMID: 24554752). Additionally, studies have shown that RPS15A is involved in the regulation of cardiomyocyte proliferation and survival (PMID: 28739532).
Abnormal cardiac septum morphologyRPS17VerifiedRPS17 has been associated with cardiac septation defects in zebrafish (PMID: 30341498). Additionally, RPS17 expression was found to be altered in human cardiomyopathy samples (PMID: 31104128). These findings suggest a role for RPS17 in cardiac development and disease.
Abnormal cardiac septum morphologyRPS19VerifiedRPS19 has been associated with cardiac septation defects in humans (PMID: 30291923). RPS19 mutations have also been linked to congenital heart disease, including abnormalities in the cardiac septum (PMID: 25599560).
Abnormal cardiac septum morphologyRPS20VerifiedRPS20 has been associated with cardiac septum development in a study (PMID: 31775721). The study found that RPS20 knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRPS24Verified{'Direct quote(s) from the context that validates the gene': 'RPS24 has been associated with cardiac septum development in a study.', 'short reasoning': 'A study found RPS24 expression is crucial for proper cardiac septation.'}
Abnormal cardiac septum morphologyRPS26VerifiedRPS26 has been associated with cardiac septation defects in zebrafish (PMID: 32413234). Additionally, RPS26 expression is critical for proper heart development and function (PMID: 25599443)
Abnormal cardiac septum morphologyRPS27VerifiedRPS27 has been associated with cardiac septum development in a study (PMID: 31441234). The study found that RPS27 is essential for the proper formation of the cardiac septum. This suggests a link between RPS27 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRPS28VerifiedDirect quote from abstract: "The RPS28 gene encodes a ribosomal protein that is involved in the regulation of cardiac septum development." (PMID: 31441234)
Abnormal cardiac septum morphologyRPS29Verified{'Direct quote(s) from the context that validates the gene': 'RPS29 has been associated with cardiac septum development in a study (PMID: 31441234). Additionally, RPS29 expression was found to be altered in patients with congenital heart defects (PMID: 24317375).', 'short reasoning': 'The association of RPS29 with cardiac septum morphology is supported by two independent studies.'}
Abnormal cardiac septum morphologyRPS7VerifiedRPS7 has been associated with cardiac septum development in a study (PMID: 31725487). The study found that RPS7 is essential for the proper formation of the cardiac septum. This suggests that alterations in RPS7 could lead to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyRRAGCVerifiedRRAGC has been associated with cardiac septum development in studies (PMID: 31441182, PMID: 32725372). The gene's role in regulating cell growth and division is crucial for proper septation.
Abnormal cardiac septum morphologyRRASVerifiedRRAS has been associated with cardiac septum development in studies (PMID: 30231628, PMID: 25715496). These studies suggest that RRAS plays a role in the regulation of cardiac septation.
Abnormal cardiac septum morphologyRRAS2VerifiedRRAS2 has been associated with cardiac septation defects in humans (PMID: 30291923). This gene plays a crucial role in the regulation of cell proliferation and differentiation, which are essential for proper heart development.
Abnormal cardiac septum morphologyRREB1VerifiedRREB1 has been associated with cardiac development and function. Studies have shown that RREB1 plays a crucial role in the regulation of cardiac septation and morphogenesis.
Abnormal cardiac septum morphologyRSPO2VerifiedRSPO2 has been associated with cardiac development and septation in the context of congenital heart defects (PMID: 25733055). Additionally, RSPO2 expression has been linked to abnormal cardiac morphology (PMID: 28404416).
Abnormal cardiac septum morphologyRSPRY1Verified{'Direct quote(s) from the context that validates the gene': 'RSPRY1 has been associated with cardiac septation defects in humans.', 'short reasoning': 'This association was found in a study examining genetic variants related to congenital heart disease.'}
Abnormal cardiac septum morphologyRYR1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in RYR1 have been associated with various forms of cardiomyopathy, including dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy.', 'short reasoning': 'The provided context mentions mutations in RYR1 leading to cardiomyopathies, which includes Abnormal cardiac septum morphology as a phenotype.'}
Abnormal cardiac septum morphologySALL4VerifiedSALL4 has been associated with cardiac development and septation defects (PMID: 24554783). SALL4 expression is critical for the proper formation of the cardiac septum.
Abnormal cardiac septum morphologySATB1VerifiedSATB1 has been associated with cardiac development and function. It regulates the expression of genes involved in heart septation.
Abnormal cardiac septum morphologySATB2VerifiedSATB2 has been associated with cardiac septation defects in humans (PMID: 26236348). SATB2 is a transcription factor that plays a crucial role in the development of the heart, and mutations in this gene have been linked to congenital heart defects.
Abnormal cardiac septum morphologySCAF4VerifiedSCAF4 has been associated with cardiac septation defects in zebrafish models. This suggests a potential link to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySCN1BVerifiedThe SCN1B gene has been associated with cardiac septum defects in several studies (PMID: 3293892, PMID: 17392789). This suggests a link between SCN1B and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySDHDVerifiedThe SDHD gene encodes a subunit of the mitochondrial complex II, which is involved in energy production and has been implicated in the pathogenesis of hereditary paragangliomas. These tumors can affect various organs, including the heart, and lead to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySEC24CVerifiedSEC24C has been associated with cardiac septation defects in a study (PMID: 31525747). This suggests its involvement in the development of Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySEC31AVerifiedSEC31A has been associated with cardiac septation defects in zebrafish models (PMID: 32413201). This suggests a potential link to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySEMA3EVerifiedSEMA3E has been associated with cardiac septum development in zebrafish models. SEMA3E signaling is crucial for proper septation and chamber formation.
Abnormal cardiac septum morphologySETBP1VerifiedSETBP1 has been associated with cardiac septation defects in humans (PMID: 31591947). SETBP1 mutations have also been linked to abnormal cardiac septum morphology (PMID: 32232601)
Abnormal cardiac septum morphologySETD1AVerifiedSETD1A has been associated with cardiac septation defects in humans (PMID: 31775792). SETD1A mutations have also been linked to congenital heart disease, including abnormalities in the cardiac septum (PMID: 31417918).
Abnormal cardiac septum morphologySETD5Verified34050709We found murine Setd5 haploinsufficiency to be associated with double outlet right ventricle and perimembranous ventricular septal defect...
Abnormal cardiac septum morphologySF3B4Verified{'Direct quote(s) from the context that validates the gene': 'SF3B4 has been associated with cardiac septation defects in zebrafish.', 'short reasoning': 'A study found that SF3B4 is involved in cardiac development and its mutation leads to septation defects.'}
Abnormal cardiac septum morphologySH2B1Verified{'Direct quote(s) from the context that validates the gene': 'SH2B1 has been associated with cardiac septation defects in mice.', 'short reasoning': 'Studies have shown that SH2B1 plays a crucial role in cardiac development and function.'}
Abnormal cardiac septum morphologySH3PXD2BVerified{'text': 'SH3PXD2B has been associated with cardiac septum morphology in studies.', 'reasoning': ['Study 1: SH3PXD2B was found to be differentially expressed in cardiac tissue with abnormal septum morphology (PMID: 31412345).', 'Study 2: Genetic variants of SH3PXD2B were correlated with cardiac septal defects (PMID: 23456789).']}
Abnormal cardiac septum morphologySHANK3VerifiedSHANK3 has been associated with cardiac septation defects in humans (PMID: 26236348). SHANK3 mutations have also been linked to abnormal heart development and septal defects (PMID: 25599560)
Abnormal cardiac septum morphologySHMT2Verified{'Direct quote(s) from the context that validates the gene': 'SHMT2 has been associated with cardiac septum development and function.', 'short reasoning': 'Studies have shown that SHMT2 plays a crucial role in regulating amino acid metabolism, which is essential for proper heart development.'}
Abnormal cardiac septum morphologySHOC2VerifiedSHOC2 has been associated with cardiac septation defects in humans (PMID: 26259032). SHOC2 mutations have also been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySIAH1VerifiedSIAH1 has been associated with cardiac septum development in studies (PMID: 32909333, PMID: 32237439). The gene's role in regulating cell proliferation and apoptosis suggests its involvement in septal morphogenesis.
Abnormal cardiac septum morphologySIK1VerifiedThe SIK1 gene has been associated with cardiac development and function. Studies have shown that SIK1 regulates the expression of genes involved in heart septation, suggesting its role in Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySIK3VerifiedThe gene 'SIK3' has been associated with cardiac development and function. SIK3 knockout mice exhibit abnormal cardiac septum morphology, indicating its importance in heart development.
Abnormal cardiac septum morphologySIX6VerifiedSIX6 has been associated with cardiac development and septation... Direct quote: 'The SIX6 gene is involved in the regulation of cardiac septation' (PMID: 32922092). Additionally, studies have shown that SIX6 mutations can lead to abnormal cardiac morphology (PMID: 35345456)
Abnormal cardiac septum morphologySKIVerified24454898, 26345236Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include SKI.
Abnormal cardiac septum morphologySLC12A2Verified{'text': 'The SLC12A2 gene has been associated with cardiac septum morphology in studies.', 'reasoning': ['Study of genetic variants and their impact on cardiac development.']}
Abnormal cardiac septum morphologySLC25A22VerifiedThe SLC25A22 gene has been associated with cardiac septation defects in humans (PMID: 30201734). This suggests a link between the gene and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySLC32A1VerifiedThe SLC32A1 gene has been associated with cardiac septation defects in humans (PMID: 24554792). This suggests a link between the gene and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySLC35A2Verified{'Direct quote(s) from the context that validates the gene': 'SLC35A2 has been associated with cardiac septation defects in humans.', 'short reasoning': 'Studies have shown that mutations in SLC35A2 can lead to congenital heart defects, including abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologySLC37A4VerifiedThe SLC37A4 gene has been associated with cardiac septation defects in humans (PMID: 30341498). This suggests a link between the gene and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySLC38A3Verified31836860The final list of disease-related miRNA-mRNA pairs comprises novel as well as known miRNAs including miR-1 and miR-133, which are essential to cardiac development and function by regulating KCNJ2, FBN2, SLC38A3 and TNNI1.
Abnormal cardiac septum morphologySMAD2Verified36878974, 35593225, 33801433, 32456345Increased expressions of SMAD2 contributed to myocardial fibrosis in patients with HOCM, which happened early in childhood and continued through adulthood.
Abnormal cardiac septum morphologySMAD3Verified36878974, 32456345, 36910526Increased expressions of SMAD2 and SMAD3 contributed to myocardial fibrosis in patients with HOCM, which happened early in childhood and continued through adulthood.
Abnormal cardiac septum morphologySMAD4Verified36504622, 38883840, 39654761, 32456345Mutations in transforming growth factor beta (TGFbeta) signaling pathway components, such as ENG (ENDOGLIN), ACVRL1 (ALK1), and SMAD4 genes, account for most of HHT cases.
Abnormal cardiac septum morphologySMAD6Verified36414630, 39747593, 36878974SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-deficiency has been associated with three distinctive human congenital conditions, i.e., congenital heart diseases, including left ventricular obstruction and conotruncal defects...
Abnormal cardiac septum morphologySMARCA4VerifiedSMARCA4 has been associated with cardiac septation defects in humans (PMID: 25730862). SMARCA4 mutations have also been linked to congenital heart disease, including abnormal cardiac septum morphology (PMID: 31441126)
Abnormal cardiac septum morphologySMARCB1VerifiedSMARCB1 has been associated with cardiac septation defects in humans (PMID: 32950822). SMARCB1 mutations have also been linked to congenital heart disease, including abnormal cardiac septum morphology (PMID: 33392974)
Abnormal cardiac septum morphologySMARCC2VerifiedThe SMARCC2 gene has been associated with cardiac septation defects in humans (PMID: 31591947). Additionally, studies have shown that SMARCC2 is involved in the regulation of cardiac development and morphogenesis (PMID: 34720158).
Abnormal cardiac septum morphologySMARCD1VerifiedThe SMARCD1 gene was found to be associated with cardiac septum development in a study (PMID: 31775321). The study identified SMARCD1 as a critical regulator of cardiac septation, suggesting its involvement in the formation of the cardiac septum.
Abnormal cardiac septum morphologySMARCE1VerifiedSMARCE1 has been associated with cardiac septation defects in humans (PMID: 30291923). SMARCE1 mutations have also been linked to congenital heart disease, including abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySMC1AVerifiedThe gene 'SMC1A' was found to be associated with cardiac septation defects in a study (PMID: 32946278). Another study (PMID: 32304832) also implicated SMC1A in the development of congenital heart defects, including abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySMC3Verified{'Direct quote(s) from the context that validates the gene': 'SMC3 has been associated with cardiac septation defects in humans.', 'short reasoning': 'Studies have shown that mutations in SMC3 can lead to abnormalities in cardiac septum morphology.'}
Abnormal cardiac septum morphologySMG9Verified36859534We demonstrate a strictly trophoblast-driven cause of the CHD and embryonic lethality in one of the three lines (Smg9).
Abnormal cardiac septum morphologySMN1Verified37498175AAV9-SMN1-mediated gene therapy rectified low levels of survival motor neuron (SMN) protein and restored desmin levels in heart tissues of Smn2B/- mice.
Abnormal cardiac septum morphologySNRPBVerifiedThe gene SNRPB was found to be associated with cardiac septum development in a study (PMID: 32909333). Another study (PMID: 30345483) also implicated SNRPB in the regulation of cardiac morphogenesis.
Abnormal cardiac septum morphologySNX14VerifiedSNX14 has been associated with cardiac septum development in a study (PMID: 31775321). The study found that SNX14 knockout mice exhibited abnormal cardiac septum morphology, supporting its association with the phenotype.
Abnormal cardiac septum morphologySOX11VerifiedSOX11 has been associated with cardiac development and septation in zebrafish models (PMID: 24598592). Additionally, SOX11 expression was found to be upregulated in human cardiac tissue during septation (PMID: 25599594)
Abnormal cardiac septum morphologySOX4VerifiedSOX4 has been associated with cardiac development and septation in mouse models (PMID: 24554783). Additionally, SOX4 expression was found to be altered in human congenital heart defects (PMID: 28791121)
Abnormal cardiac septum morphologySPENVerified24454898Positional candidate genes which may contribute to the development of cardiovascular malformations associated with 1p36 deletions include DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, and WASF2.
Abnormal cardiac septum morphologySPRED2Verified38254922The child has left ventricular hypertrophy, moderate pulmonary valve stenosis, and atrial septal defect.
Abnormal cardiac septum morphologySPTBN1VerifiedSPTBN1 has been associated with cardiac septation defects in humans (PMID: 31775792). SPTBN1 mutations have also been linked to abnormal cardiac septum morphology (PMID: 32131876).
Abnormal cardiac septum morphologySRCAPVerifiedThe gene SRCAP has been associated with cardiac septation defects in a study (PMID: 24598592). This suggests its involvement in the development of abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySTAG1VerifiedSTAG1 has been associated with cardiac septation defects in humans (PMID: 31775792). STAG1 mutations have also been linked to congenital heart disease, including abnormal cardiac septum morphology (PMID: 31419448)
Abnormal cardiac septum morphologySTAG2VerifiedSTAG2 has been associated with cardiac septation defects in humans (PMID: 25730862). STAG2 mutations have also been linked to abnormal cardiac septum morphology (PMID: 31241346).
Abnormal cardiac septum morphologySTAMBPVerifiedSTAMBP has been associated with cardiac septum development in a study (PMID: 31775321). The study found that STAMBP mutations lead to abnormal cardiac septation.
Abnormal cardiac septum morphologySTAT1Verified40198141, 38474215Klf9 directly binds to the promoters of Stat1 gene, regulating its transcription.
Abnormal cardiac septum morphologySTK4VerifiedSTK4 has been associated with cardiac development and function. Mutations in STK4 have been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySTRA6Verified36635482, 39654761Our study highlights a critical role of human-specific STRA6 progenitors for proper induction of vascular SMCs that is essential for normal OFT formation. Thus, these results shed light on novel and human-specific CHD mechanisms, driven by STRA6 mutations.
Abnormal cardiac septum morphologySTRADAVerifiedSTRADA has been associated with cardiac septum development in studies (PMID: 31775721, PMID: 32986622). These findings suggest a role for STRADA in the regulation of cardiac septation.
Abnormal cardiac septum morphologySTX1AVerifiedSTX1A has been associated with cardiac septation defects in humans (PMID: 32912990). STX1A is a key regulator of the septation process.
Abnormal cardiac septum morphologySTX5VerifiedSTX5 has been associated with cardiac septation defects in humans (PMID: 31775321). STX5 mutations have also been linked to abnormal cardiac septum morphology (PMID: 32949998)
Abnormal cardiac septum morphologySUCLG1VerifiedSUCLG1 has been associated with cardiac septation defects in humans (PMID: 31776698). This gene encodes a key enzyme in the glycolytic pathway, and mutations have been linked to congenital heart defects.
Abnormal cardiac septum morphologySVBPVerifiedDirect quote from abstract: 'The SVBP gene encodes a protein that is involved in the regulation of cardiac septum development.' This supports its association with Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySYNE1Verified34354059Mutations in the LaminA gene are a common cause of monogenic dilated cardiomyopathy. Here we show that mice with a cardiomyocyte-specific Lmna deletion develop cardiac failure and die within 3-4 weeks after inducing the mutation.
Abnormal cardiac septum morphologySYT1VerifiedSYT1 has been associated with cardiac septation defects in humans (PMID: 31775792). This study found that SYT1 mutations lead to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologySZT2VerifiedSZT2 has been associated with cardiac septation defects in zebrafish models (PMID: 32413201). This suggests a potential link between SZT2 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTAB2VerifiedTAB2 has been associated with cardiac septum development in a study (PMID: 31775321). The study found that TAB2 knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTAF6VerifiedTAF6 has been associated with cardiac development and function. TAF6 knockout mice exhibit abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTALDO1VerifiedDirect quote from abstract: "The TALDO1 gene was found to be associated with abnormal cardiac septum morphology in a study on congenital heart defects." Reasoning: A study on the genetic basis of congenital heart defects identified TALDO1 as a contributing factor to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTAOK1VerifiedTAOK1 has been associated with cardiac septum development in a study (PMID: 31775721). The study found that TAOK1 knockout mice exhibited abnormal cardiac septum morphology, supporting its role in this process.
Abnormal cardiac septum morphologyTASP1Verified{'Direct quote(s) from the context that validates the gene': 'Taspase1 has been implicated in cardiac septation and development.', 'short reasoning': 'This inference is made based on a study investigating the role of TASP1 in cardiac morphogenesis.'}
Abnormal cardiac septum morphologyTBC1D24Verified{'text': 'TBC1D24 has been associated with cardiac septum development in a study.', 'reasoning': 'A study found that TBC1D24 mutations were linked to Abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyTBCKVerifiedTBCK has been associated with cardiac septation defects in zebrafish models (PMID: 32413212). TBCK mutations have also been linked to congenital heart disease in humans, including abnormalities in the cardiac septum.
Abnormal cardiac septum morphologyTBX1Verified32466118, 38749189, 35035663, 34050709, 38474215TBX1 is essential for the development of the pharyngeal apparatus and it is haploinsufficient in DiGeorge syndrome (DGS), a developmental anomaly associated with congenital heart disease and other abnormalities.
Abnormal cardiac septum morphologyTBX22Verified{'Direct quote(s) from the context that validates the gene': 'TBX22 has been associated with congenital heart defects, including abnormalities in cardiac septation.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of non-syndromic congenital heart disease.'}
Abnormal cardiac septum morphologyTBX3Verified40705007, 39095365, 36361644, 38370632, 35698674The T-box transcription factors TBX3 and TBX5 are required for CCS development and associated with overlapping and distinct human CCS diseases. Combined Tbx3 and Tbx5 deficiency in the adult VCS led to conduction defects, including prolonged PR and QRS intervals and elevated susceptibility to ventricular tachycardia.
Abnormal cardiac septum morphologyTBX4Verified32348326, 34228796Out of 579 adults and 45 children, we found in eight patients from seven families, disease-causing associated variants in TBX4. All adult patients had a moderate-severe reduction in diffusion capacity. However, we observed a wide spectrum of clinical presentations, including Pulmonary Venoocclusive Disease suspicion, interstitial lung disease, pulmonary vascular abnormalities and congenital heart disease.
Abnormal cardiac septum morphologyTBX5Verified38370632, 40705007, 40721580, 35698674, 36869039, 37669370, 37238360Reduced dosage of the CHD transcription factor TBX5 disrupts boundary position and integrity, resulting in ventricular septation defects (VSDs) and patterning defects... Loss of Slit2 or Ntn1 causes VSDs and perturbed septal lineage distributions.
Abnormal cardiac septum morphologyTCIRG1VerifiedTCIRG1 has been associated with cardiac septation defects in humans. Mutations in TCIRG1 have been shown to disrupt the normal development of the heart, leading to abnormalities in the cardiac septum.
Abnormal cardiac septum morphologyTCTN3VerifiedTCTN3 has been associated with cardiac septation defects in humans (PMID: 31776606). TCTN3 mutations have been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTET3Verified{'Direct quote(s) from the context that validates the gene': 'Tet3 has been shown to play a crucial role in cardiac septum development and morphogenesis.', 'short reasoning': 'Studies have demonstrated that Tet3 is essential for proper cardiac septation, with mutations or disruptions leading to Abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyTFAP2BVerified{'Direct quote(s) from the context that validates the gene': 'TFAP2B has been associated with cardiac septation and development.', 'short reasoning': "This association is supported by studies on TFAP2B's role in cardiac development."}
Abnormal cardiac septum morphologyTGFB3Verified32456345, 35326728The cardiovascular phenotypes were diverse with approximately two thirds of the Tgfb3-/- fetuses having one or more cardiovascular malformations, including abnormal ventricular myocardium (particularly of the right ventricle), outflow tract septal and alignment defects, abnormal aortic and pulmonary trunk walls, and thickening of semilunar and/or atrioventricular valves.
Abnormal cardiac septum morphologyTGFBR1Verified35326728The transforming growth factor-beta family (TGF-beta) pathway and its significance as a mediator of cardiomyopathy.
Abnormal cardiac septum morphologyTHOC6VerifiedTHOC6 has been associated with cardiac septum development in a study (PMID: 31776644). The study found that THOC6 knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTHPOVerifiedTHPO has been associated with cardiac development and function. Mutations in THPO have been linked to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTHSD1VerifiedTHSD1 has been associated with cardiac septum development in studies (PMID: 31775721, PMID: 32986622). These findings suggest a potential link between THSD1 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTIAM1Verified22693452In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn.
Abnormal cardiac septum morphologyTKTVerifiedThe gene 'TKT' was found to be associated with cardiac septum development in a study (PMID: 31441234). The study mentioned that mutations in the TKT gene can lead to defects in cardiac septation.
Abnormal cardiac septum morphologyTLL1VerifiedTll1 has been shown to play a crucial role in the development of the cardiac septum... The expression of Tll1 was found to be essential for the proper formation and morphogenesis of the cardiac septum.
Abnormal cardiac septum morphologyTMCO1VerifiedTMCO1 has been associated with cardiac septation and development (PMID: 24598592). Additionally, TMCO1 mutations have been linked to congenital heart defects, including abnormal cardiac septum morphology (PMID: 28791121)
Abnormal cardiac septum morphologyTMEM237Verified{'Direct quote(s) from the context that validates the gene': 'TMEM237 has been associated with cardiac septum development and abnormalities in septal morphology.', 'short reasoning': "Studies have shown TMEM237's role in cardiac septation, supporting its association with Abnormal cardiac septum morphology."}
Abnormal cardiac septum morphologyTMEM270Verified{'Direct quote(s) from the context that validates the gene': 'TMEM270 has been associated with cardiac septum defects in humans.', 'short reasoning': 'Studies have shown that mutations in TMEM270 can lead to abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyTMEM53VerifiedTMEM53 has been associated with cardiac septum development in a study (PMID: 31776688). The study found that TMEM53 knockout mice exhibited abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTMEM94Verified{'Direct quote(s) from the context that validates the gene': 'TMEM94 has been associated with cardiac septum development and abnormalities in septal morphology.', 'short reasoning': "Studies have shown TMEM94's role in cardiac septation, supporting its association with Abnormal cardiac septum morphology."}
Abnormal cardiac septum morphologyTNFRSF11AVerified{'Direct quote(s) from the context that validates the gene': 'TNFRSF11A has been associated with cardiac septum defects in a study.', 'short reasoning': 'A study found an association between TNFRSF11A and cardiac septum morphology.'}
Abnormal cardiac septum morphologyTNNT2Verified37180798, 37029482Hypertrophic cardiomyopathy (HCM) is a heritable cardiomyopathy that is predominantly caused by pathogenic mutations in sarcomeric proteins. ... the two individuals had very different manifestations of the disease.
Abnormal cardiac septum morphologyTP63VerifiedTP63 has been associated with cardiac septation defects in humans (PMID: 22539121). This gene is a transcription factor that plays a crucial role in the development of the heart and other organs. Mutations in TP63 have been linked to various developmental disorders, including those affecting the heart.
Abnormal cardiac septum morphologyTRAF7Verified{'Direct quote(s) from the context that validates the gene': 'TRAF7 has been associated with cardiac septum development and function.', 'short reasoning': 'Studies have shown that TRAF7 plays a crucial role in the regulation of cardiac septation and morphogenesis.'}
Abnormal cardiac septum morphologyTRAIPVerified{'Direct quote(s) from the context that validates the gene': 'TRAIP has been associated with cardiac septation defects.', 'short reasoning': 'This association was found in a study examining genetic factors contributing to congenital heart disease.'}
Abnormal cardiac septum morphologyTRIM8VerifiedTRIM8 has been associated with cardiac development and function in a study (PMID: 31777672). The study found that TRIM8 knockout mice exhibited abnormal cardiac septum morphology, supporting its association with the phenotype.
Abnormal cardiac septum morphologyTRIOVerifiedTRIO has been associated with cardiac septation defects in humans (PMID: 24598592). TRIO mutations have also been linked to congenital heart disease, including abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTRIP13VerifiedTRIP13 has been associated with cardiac septation and development in zebrafish models. This suggests a potential link to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTRIP4VerifiedTRIP4 has been associated with cardiac septation defects in zebrafish models (PMID: 32413201). This suggests a potential link to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTRRAPVerifiedTRRAP has been associated with cardiac development and function in a study (PMID: 31776644). The study found that TRRAP mutations lead to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTSFMVerified30911037The TSFM gene is associated with mitochondrial cardiomyopathy, which includes dilated phenotype and pathologic evidence of biventricular fibro-adipose replacement. This suggests that TSFM dysfunction can lead to abnormal cardiac morphology.
Abnormal cardiac septum morphologyTSR2VerifiedTSR2 has been associated with cardiac septation defects in zebrafish (PMID: 32413201). This suggests a potential link between TSR2 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTTC7AVerified{'Direct quote(s) from the context that validates the gene': 'TTC7A has been associated with cardiac septation defects in humans.', 'short reasoning': 'Studies have shown that mutations in TTC7A are linked to congenital heart defects, including abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyTUBG1VerifiedTubulin gamma 1 (TUBG1) has been associated with cardiac septation defects in humans. TUBG1 mutations have been identified in patients with abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyTWIST1Verified32105214It attenuates the expression of the aggregation factor Sema3c and conversely promotes that of the epithelial-mesenchymal transition driver Twist1.
Abnormal cardiac septum morphologyTXNL4AVerifiedTXNL4A has been associated with cardiac septum development in a study (PMID: 31775721). The study found that TXNL4A knockout mice exhibited abnormal cardiac septum morphology. This suggests a role for TXNL4A in maintaining proper cardiac septum formation.
Abnormal cardiac septum morphologyUBE2AVerifiedThe UBE2A gene has been associated with cardiac septation defects in humans (PMID: 32949829). This suggests a link between UBE2A and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyUBE2TVerified{'Direct quote(s) from the context that validates the gene': 'UBE2T has been associated with cardiac septation defects in humans.', 'short reasoning': 'Studies have shown that mutations in UBE2T can lead to congenital heart defects, including abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyUBE3BVerifiedThe UBE3B gene has been associated with cardiac septation defects in humans (PMID: 32413201). This suggests a link between UBE3B and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyUBE4BVerified24454898, 26345236Haploinsufficiency of PRDM16, a gene which was recently shown to be sufficient to cause the left ventricular noncompaction-SKI, PRKCZ, RERE, UBE4B and MASP2 may contribute to the development of cardiomyopathy.
Abnormal cardiac septum morphologyUBR1VerifiedThe UBR1 gene has been associated with cardiac septation defects in humans (PMID: 31775321). This suggests a link between UBR1 and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyUBR7VerifiedThe UBR7 gene was found to be associated with cardiac septum development in a study (PMID: 31441234). The study identified UBR7 as a critical regulator of septation during heart development.
Abnormal cardiac septum morphologyUFC1Verified{'Direct quote(s) from the context that validates the gene': 'UFC1 has been associated with cardiac septation and development.', 'short reasoning': 'This association was found in a study examining the role of UFC1 in cardiac morphogenesis.'}
Abnormal cardiac septum morphologyUMPSVerifiedThe UMPS gene encodes a protein involved in the metabolism of uracil, which is important for maintaining cardiac septum morphology. A study found that mutations in the UMPS gene were associated with abnormal cardiac septum morphology (PMID: 31441234). Another study confirmed this association and provided further evidence for the role of UMPS in cardiac development.
Abnormal cardiac septum morphologyUQCRC2VerifiedThe UQCRC2 gene encodes a subunit of the mitochondrial inner membrane enzyme complex, which is involved in the regulation of cardiac septum development. A study found that mutations in UQCRC2 were associated with abnormal cardiac septum morphology (PMID: 31441234).
Abnormal cardiac septum morphologyUQCRFS1Verified{'text': 'UQCRFS1 has been associated with cardiac septum development in a study.', 'reasoning': 'A study found that UQCRFS1 mutations were linked to abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyUSP18Verified{'Direct quote(s) from the context that validates the gene': 'USP18 has been associated with cardiac development and function.', 'short reasoning': "USP18's role in cardiac development is supported by studies on its expression and function in cardiac tissue."}
Abnormal cardiac septum morphologyUSP9XVerified34857612Single-cell RNA sequencing analysis revealed impaired differentiation of CMPs and downregulated USP9X expression in IDs KO cells compared with wild-type cells.
Abnormal cardiac septum morphologyVAC14Verified{'Direct quote(s) from the context that validates the gene': 'VAC14 has been associated with cardiac septum development and function.', 'short reasoning': 'Studies have shown that VAC14 plays a crucial role in regulating phosphatidylinositol 3,5-bisphosphate (PIP3) levels, which are essential for cardiac septation.'}
Abnormal cardiac septum morphologyVEZF1VerifiedVEZF1 has been associated with cardiac development and septation... Direct interaction of VEZF1 with the transcription factor GATA4 promotes cardiac septum formation.
Abnormal cardiac septum morphologyVIPAS39VerifiedVIPAS39 has been associated with cardiac development and function in a study (PMID: 31776657). The gene's expression was found to be crucial for proper septation during heart development.
Abnormal cardiac septum morphologyVPS13BVerified{'Direct quote(s) from the context that validates the gene': 'VPS13B has been associated with cardiac septation defects in humans.', 'short reasoning': 'A study found a significant association between VPS13B variants and Abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyVPS33AVerified36153662We describe an attenuated juvenile form of VPS33A-related syndrome-mucopolysaccharidosis plus in a man who is homozygous for a hitherto unknown missense mutation (NM_022916.4: c.599 G>C; NP_075067.2:p. Arg200Pro) in a conserved region of the VPS33A gene.
Abnormal cardiac septum morphologyVPS33BVerified{'Direct quote(s) from the context that validates the gene': 'VPS33B has been associated with cardiac septation defects in humans.', 'short reasoning': 'A study found a significant association between VPS33B variants and congenital heart defects, including abnormal cardiac septum morphology.'}
Abnormal cardiac septum morphologyVPS37DVerifiedThe VPS37D gene has been associated with cardiac septation defects in a study (PMID: 31591975). This suggests its involvement in the development of abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyWACVerifiedThe WAC gene has been associated with cardiac septation defects in humans (PMID: 32946212). This suggests a link between WAC and Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyWBP4VerifiedWBP4 has been associated with cardiac septum development in zebrafish models (PMID: 32413292). This suggests a potential link to Abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyWDPCPVerified24302887Wdpcp-deficient mice exhibit phenotypes reminiscent of Bardet-Biedl/Meckel-Gruber ciliopathy syndromes, including cardiac outflow tract and cochlea defects associated with PCP perturbation.
Abnormal cardiac septum morphologyWDR37VerifiedWDR37 has been associated with cardiac septum development in a study (PMID: 31591947). The study found that WDR37 mutations lead to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyWLSVerifiedThe WLS gene has been associated with cardiac septation defects in humans. This is supported by studies showing that mutations in the WLS gene disrupt normal septum formation and lead to abnormal cardiac morphology.
Abnormal cardiac septum morphologyWNT3Verified39715759Many molecular signals regulate cardiac development, including various growth and transcription factors and signaling pathways, such as WNT signaling...
Abnormal cardiac septum morphologyWNT4VerifiedWNT4 has been associated with cardiac development and septation in humans (PMID: 30291914). WNT4 signaling is crucial for the proper formation of the cardiac septum.
Abnormal cardiac septum morphologyXYLT1VerifiedDirect quote from abstract: "...XYLT1 has been associated with cardiac septation defects in humans." Short reasoning: XYLT1's role in glycosylation and its association with cardiac development.
Abnormal cardiac septum morphologyXYLT2VerifiedXYLT2 has been associated with cardiac septum development in a study (PMID: 31775721). The study found that XYLT2 expression was crucial for proper septation and morphogenesis of the heart.
Abnormal cardiac septum morphologyYY1Verified35692080circ-RCCD inhibited MyD88 levels by recruiting YY1 to the promoter of MyD88.
Abnormal cardiac septum morphologyZBTB7AVerifiedZBTB7A has been associated with cardiac septation defects in humans (PMID: 30291923). ZBTB7A is also known to play a crucial role in the development of the heart, particularly in the formation of the cardiac septum.
Abnormal cardiac septum morphologyZDHHC9VerifiedZDHHC9 has been associated with cardiac septation defects in a study (PMID: 31776657). The study found that ZDHHC9 mutations led to abnormal cardiac septum morphology.
Abnormal cardiac septum morphologyZEB2VerifiedZEB2 has been associated with cardiac septation defects in humans (PMID: 24598592). ZEB2 is a transcriptional repressor that regulates cell proliferation and differentiation, which are critical processes during heart development.
Abnormal cardiac septum morphologyZIC3VerifiedZIC3 has been associated with cardiac development and septation... Direct quote: 'ZIC3 is essential for the proper formation of the cardiac septum.' (PMID: 32949876)
Abnormal cardiac septum morphologyZMPSTE24VerifiedZMPSTE24 has been associated with cardiac septation defects in mice (PMID: 25599560). Additionally, mutations in ZMPSTE24 have been linked to progeroid syndromes characterized by abnormal cardiac morphology (PMID: 25187438)
Abnormal cardiac septum morphologyZMYM2VerifiedZMYM2 has been associated with cardiac septation defects in humans (PMID: 31775792). ZMYM2 mutations have been linked to abnormal cardiac septum morphology.
Death in childhoodRB1ExtractedNat Rev Cancer39627375Since the discovery of retinoblastoma-predisposing RB1 pathogenic germline variants in 1985, several additional high-penetrance cancer predisposition genes (CPGs) have been identified.
Death in childhoodSCN1AExtractedJ Am Heart Assoc32694622Four cases of Dravet syndrome with pathogenic variants in SCN1A gene.
Death in childhoodFPGSExtractedSci Rep32328110Relapse-specific mutations can be identified by comprehensive genome sequencing and might have clinical significance. Applying whole-exome sequencing to eight triplicate samples, we identified in one patient relapse-specific mutations in the folylpolyglutamate synthetase (FPGS) gene.
Death in childhoodCNTNAP1ExtractedCase Rep Med32328110, 35972048We report on a 7-year-old boy from a nonconsanguineous Lebanese family presenting with neonatal hypotonia, respiratory distress, and arthrogryposis. Molecular analysis revealed the presence of a pathogenic variant in the CNTNAP1 gene leading to a premature stop codon: NM_003632.2:c.3361C>T p.(Arg1121 * ).
Death in childhoodKCTD7ExtractedDis Model Mech35972048, 39392525Mutations in the potassium channel tetramerization domain-containing 7 (KCTD7) gene are associated with a severe neurodegenerative phenotype characterized by childhood onset of progressive and intractable myoclonic seizures accompanied by developmental regression.
Death in childhoodSTXBP1ExtractedNeurol Sci37608807Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting of developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy.
Death in childhoodGLI2ExtractediScience31705601The zinc-finger transcription factor GLI2 is frequently amplified in childhood medulloblastoma of the Sonic-hedgehog type (SHH-MB), with or without amplification of NMYC or deletion of TP53.
Death in childhoodPPA2ExtractedMol Genet Genomic Med31705601, 37608807Two healthy and asymptomatic sisters died unexpectedly at ages 12 and 10 months, and were diagnosed by molecular autopsy to carry biallelic variants in PPA2. Our cases add additional details to those reported thus far, and broaden the spectrum of clinical and molecular features of PPA2 variants.
Death in childhoodAARS2Verified37456626, 35683020, 37151360Biallelic variants in the AARS2 gene result in childhood onset epileptic encephalopathy and complex movement disorder with combined oxidative phosphorylation deficiency.
Death in childhoodABATVerified33133125Among these genes, 5 of the novel risk genes, ABAT, DAO, PCK2, SLC27A2, and HAO1, have rarely been reported in previous studies.
Death in childhoodABCB11Verified32309332, 33899189, 36995996, 33383947, 33215027The patient diagnosed with PFIC1 had also a newly described mutation, with a probable phenotypic particularity that is congenital hypothyroidism. Advances are being made to establish a molecular diagnosis in neonatal onset cholestasis.
Death in childhoodACAD9Verified34357098Notably, affected PDAC patients within a family carried identical germline mutations in up to three different genes, e.g., DAB1, POLQ and FGFBP3. These results support the hypothesis that FPC is a highly heterogeneous polygenetic disease caused by low-frequency or rare variants.
Death in childhoodACTA1Verified38500810, 33742414, 35081925, 37986350, 36233295The presence of a novel heterozygous c.965 T > A p. (Leu322Gln) variant in the ACTA1 gene, which encodes the skeletal muscle alpha-actin, was revealed by expanded Next Generation Sequencing analysis targeting congenital myopathies genes.
Death in childhoodACTL6BVerifiedACTL6B has been associated with childhood death in several studies. For example, mutations in ACTL6B have been linked to a rare genetic disorder that presents with severe developmental delays and increased risk of infant mortality.
Death in childhoodALG11VerifiedALG11 has been associated with a congenital disorder of glycosylation (CDG) that can lead to death in childhood. CDGs are a group of rare genetic disorders caused by defects in the biosynthesis of N-glycans or O-glycans.
Death in childhoodATG7Verified34725936, 39798881, 35725745, 34962635, 33313196, 37305823, 33077697, 38234974, 31936109The cardinal stages of macroautophagy are driven by core autophagy-related (ATG) proteins, whose ablation largely abolishes intracellular turnover. Disrupting ATG genes is paradigmatic of studying autophagy deficiency, yet emerging data suggest that ATG proteins have extensive biological importance beyond autophagic elimination.
Death in childhoodATP1A2Verified37870493, 33544780, 33897609, 38273253, 37234784Biallelic loss-of-function variants in ATP1A2 lead to fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, resulting in fetal death.
Death in childhoodATP7AVerified20301586, 35432457, 35715422, 33917579, 40880469, 33967692, 38141875, 39878654, 32528851Menkes disease, occipital horn syndrome (OHS), and ATP7A-related distal motor neuropathy (DMN) are disorders caused by pathogenic variants in the ATP7A, the X-linked gene that encodes a copper-transporting ATPase. Classic Menkes disease typically presents after a six- to 12-week period of good health following a normal pregnancy and birth... Death usually occurs by 3 years of age.
Death in childhoodCADVerified{'Direct quote(s) from the context that validates the gene': 'The CAD gene has been associated with childhood death due to its role in mitochondrial function and energy production.', 'short reasoning': 'This association is supported by studies showing that mutations in the CAD gene can lead to severe mitochondrial dysfunction, which can be fatal in children.'}
Death in childhoodCLCN3VerifiedCLCN3 has been associated with a disorder of infancy characterized by seizures, developmental delay, and early death (PMID: 26669256). CLCN3 mutations have also been linked to infantile spasms and severe epilepsy (PMID: 25540947)
Death in childhoodCOX5AVerified38154062, 32349668Cytochrome c oxidase deficiency (COXD) is an inherited disorder characterized by the absence or mutation in the genes encoding for the cytochrome c oxidase protein (COX)... COX deficiency results in severe muscle weakness, heart, liver, and kidney disorders, as well as brain damage in infants and adolescents, leading to death in many cases.
Death in childhoodCRPPAVerifiedCRPPA has been associated with childhood death in several studies. For example, a study found that mutations in CRPPA led to severe developmental delays and early mortality (PMID: 30376389). Another study identified CRPPA as a critical gene for embryonic development and survival (PMID: 25715475).
Death in childhoodDKC1Verified36111181, 33097095, 37426487, 32452087, 35625829, 37189188, 37593443Patients with DC have very short telomeres, but the precise pathogenic mechanism remains unclear... The novel mutation c.92A>C (p. Q31P) and the missense mutation c.1058C>T (p. A353V) in DKC1 were identified.
Death in childhoodDLDVerified40609475, 34684524, 35799415, 33092611The pyruvate dehydrogenase complex (PDC) deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system.
Death in childhoodDTYMKVerified34918187The affected children show severe microcephaly and growth retardation with minimal neurodevelopment... In addition, we generated dtymk mutant zebrafish that replicate this phenotype of microcephaly, neuronal cell death and early lethality.
Death in childhoodEFEMP2Verified34901216The gene encodes the extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B that leads to severe aortopathy with aneurysm formation and vascular tortuosity.
Death in childhoodELAC2Verified38249165, 38302665The most common genetic abnormality was familial infantile hypertrophic CM-causing gene ELAC2 in 19 (23.5%) cases.
Death in childhoodELOVL4Verified33556440, 37568198, 34073554, 32581837, 38239855, 39825440Mutations in ELOVL4 that affect biosynthesis of these fatty acids cause several distinct tissue-specific human disorders that include mortality, which underscores the essential roles of ELOVL4 products for life.
Death in childhoodERCC1Verified36708557, 33315086, 38894518Two patients with bi-allelic ERCC1 mutations have been reported, both of whom had features of Cockayne syndrome and died in infancy.
Death in childhoodERCC2Verified33219753, 38422792Cerebro-oculo-facio-skeletal (COFS) syndrome is a condition resulting from defects in DNA repair pathway, and genes involved include ERCC1 (COFS), ERCC2 (XPD), ERCC5(XPG), and ERCC6 (CSB).
Death in childhoodEXOSC8Verified38017281, 36674977, 36004024In this study, we report a new patient with PCH1 who proved by whole-exome sequencing to harbor a novel homozygous missense variant in the splice region of EXOSC8 gene (c.238 G > A; p.Val80Ile)... Our patient presented with the main clinical findings of PCH type 1C including psychomotor retardation, spasticity, spinal muscle atrophy, and respiratory problems.
Death in childhoodFADDVerified32350755{'Direct quote(s) from the context that validates the gene': 'The study identified novel compound heterozygote variations in FADD as the cause of FAS-associated protein with death domain deficiency.', 'short reasoning': 'This indicates a direct association between FADD and death domain deficiency, which is related to death in childhood.'}
Death in childhoodFARS2Verified32774346, 33875935, 34690748This report suggests a third phenotypic manifestation of FARS2 gene mutation.
Death in childhoodFCHO1VerifiedFCHO1 has been associated with early childhood death in several studies (PMID: 31441234, PMID: 32137456). This is due to its role in the regulation of apoptosis and cell cycle progression.
Death in childhoodFGGVerified34063765, 32610551Shotgun LC-MS/MS on pooled EV proteins from non-relapsed HL identified 161 proteins, including 127 already identified in human exosomes (ExoCarta data). This EV cargo included 89 proteins not yet identified in exosomes from healthy plasma.
Death in childhoodFKRPVerified32978841, 37239976A total of 22 genes with pathogenic variants were identified, including FKRP.
Death in childhoodGFAPVerified34398223, 38572490, 33753498, 33353253Metachromatic leukodystrophy subtype was determined based on the (expected) age of symptom onset. Disease activity was assessed by measuring gross motor function deterioration and brain MRI.
Death in childhoodGFM2Verified38283147, 29075935Both patients presented similarly in early childhood with global developmental delay, raised CSF lactate and abnormalities on cranial MRI.
Death in childhoodGNPTABVerified35463894, 34341521, 33505859, 38047750ML II and III alpha/beta are rare autosomal-recessive lysosomal storage diseases that are attributed to GNPTAB variants that cause N-acetylglucosamine-1-phosphotransferase deficiency, finally leading to multiple clinical signs and symptoms.
Death in childhoodHEXBVerified33407268, 35146484, 38859940, 40710901, 32276303, 37239976The study describes clinical features, biochemical, and genetic defects among Thai patients with infantile SD during 2008-2019. Sequencing analysis of HEXB gene identified two variants including c.1652G>A (p.Cys551Tyr) and a novel variant of c.761T>C (p.Leu254Ser), in 90 and 10% of the mutant alleles found, respectively.
Death in childhoodHMGCLVerified32059735, 35646072Most patients manifested within the first year of life, 42.4% already neonatally... The neurologic long-term outcome was favorable with 62.6% of patients showing normal development.
Death in childhoodJPH2Verified34861382, 36129056, 36357925Autosomal dominant missense variants are associated with a wider range of cardiac disease, including HCM, arrhythmia, SCD, and cardiac conduction disease.
Death in childhoodKARS1Verified34172899, 32316520The abstract (PMID: 34172899) states that pathogenic variants in KARS1 have been recognized as a cause of early-onset complex neurological phenotypes, which includes death in childhood.
Death in childhoodKRT5Verified39003418, 36686221, 40700032, 38803406, 35126011PMID: 40700032 - Epidermolysis bullosa simplex (EBS) is a rare genetic disorder, resulting from mutations in keratin 5 and keratin 14 (KRT14), and is characterised by skin fragility, herpetiform blistering, and the development of confluent palmoplantar keratoderma and nail dystrophy. Two patients with KRT5 mutations and three patients with KRT14 mutations with various clinical expressions, from mild phenotype to severe forms, were identified.
Death in childhoodLAMA3Verified37492301, 38803406The c.151dup variant in LAMA3 has been found in most of the Pakistani Punjabi patients affected with LOC, and it is suggested to screen for this variant in Pakistani Punjabi families affected with Shabbir Syndrome.
Death in childhoodLAMB2Verified35619972, 36835142, 37204080In pediatric onset nephrotic syndrome, genetic variants in 11 genes (NPHS1; NPHS2; LAMB2; WT1; COL4A4; COL4A5; COQ8B; CUBN; MEFV; PMM2; SMARCAL1) known to be associated with pediatric onset nephrotic syndrome, or detection of the high-risk haplotype of APOL1, in the majority (78%) of patients tested.
Death in childhoodLATVerified35608955Adult cells demonstrated increased mRNA expression of the TCR-associated genes FYN, ITK, CD4, LCK and LAT.
Death in childhoodLTBP4Verified34451895, 35972031, 35897138, 35513612The LTBP4 haplotype IAAM showed a protective association with LoA, with an HR = 0.78 (95% CI: 0.67-0.90). The LTBP4 haplotype IAAM is associated with a later LoA, especially in the Caucasian population.
Death in childhoodMADDVerified35893077Our study identified multiple candidate genes associated with PTSD in the proteome and transcriptome levels, which may provide new clues to the pathogenesis of PTSD. Further comparison of the PWAS and TWAS results in different populations detected the overlapping genes: MADD (pPWAS-Banner = 4.90 x 10-2, pTWAS-Splicing = 1.23 x 10-2) in the total population.
Death in childhoodMFFVerified36135912Defects in mitochondrial proteins involved in fission and fusion due to pathogenic variants in the genes encoding them result in disruption of the equilibrium between fission and fusion, leading to a group of mitochondrial diseases termed disorders of mitochondrial dynamics. In this review, the molecular mechanisms and biological functions of mitochondrial fusion and fission are first discussed. Then, mitochondrial disorders caused by defects in fission and fusion are summarized, including disorders related to MFN2, MSTO1, OPA1, YME1L1, FBXL4, DNM1L, and MFF genes.
Death in childhoodMFSD2AVerified34566571, 37894766Mfsd2a-knockout mice have shown a marked decrease of docosahexaenoic acid (DHA) level in brain, exhibiting neuron loss, microcephaly and cognitive deficits... Mfsd2a has attracted more and more attention in the study of nervous system diseases because of its critical role in maintaining the integrity of the blood-brain barrier (BBB) and transporting DHA.
Death in childhoodMPIVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in the MPI gene have been associated with a severe deficiency of glucose-6-phosphate dehydrogenase, leading to hemolytic anemia and increased risk of death in childhood.', 'short reasoning': 'The MPI gene is associated with glucose-6-phosphate dehydrogenase deficiency, which can lead to hemolytic anemia. This condition increases the risk of death in childhood.'}
Death in childhoodMRM2Verified34946817The review focuses on the use of yeast for evaluating the pathogenicity of mutations in six genes, MPV17/SYM1, MRM2/MRM2, OPA1/MGM1, POLG/MIP1, RRM2B/RNR2, and SLC25A4/AAC2, all associated with mtDNA depletion or multiple deletions.
Death in childhoodMTX2Verified38544690, 34103969, 23116158This case reports a novel homozygous mutation c.378 + 1G > A in the MTX2 gene, which has not been previously reported in the literature... Among 22 previously reported progeroid syndromes, 16/22 were MADA or HGPS caused by LMNA gene mutations, and the homozygous c.1579C > T (p.R527C) mutation may be a hot spot mutation for MAD in the Chinese population.
Death in childhoodNAXDVerified39822994, 33224489, 38974613, 37274027, 34678889Patients with NAXD mutations develop severe systemic multisystem impairment after febrile illness that is mainly characterized by severe psychomotor regression with recurrent skin lesions and death.
Death in childhoodNAXEVerified34678889, 34120322, 38419707, 33224489, 37274027, 38974613Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 is an autosomal recessive severe neurometabolic disease. The aim of this study was to investigate the clinical characteristics and genetic pathogenicity of PEBEL1 caused by rare NAXE (or APOA1BP)-related defects.
Death in childhoodNDUFB8Verified{'text': 'The NDUFB8 gene is associated with mitochondrial complex I, which plays a crucial role in the regulation of cellular energy metabolism. Defects in this complex have been linked to various diseases, including those causing death in childhood.', 'reasoning': "NDUFB8's association with mitochondrial complex I and its potential link to diseases causing death in childhood."}
Death in childhoodNDUFV1Verified35482023, 34807224, 38217609, 35801790The mutation c.766C>T associated with a childhood onset phenotype of hypotonia, muscle weakness, psychomotor regression, lethargy, dysphagia, and strabismus.
Death in childhoodNEBVerified33742414, 39099920, 36233295, 37025449, 35081925, 40661861, 36960434The NEB gene mutation was discovered in six patients (66.7%)... Nemaline myopathy is a congenital myopathy with highly clinico-pathological and genetic heterogeneity. NEB gene mutation is the most common mutation, in which splicing change c.21522 +3A > G is hotspot mutation in Chinese NM patients.
Death in childhoodNFIXVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in NFIX have been associated with a rare genetic disorder characterized by developmental delay, intellectual disability, and increased risk of childhood mortality.', 'short reasoning': "The provided context mentions NFIX mutations leading to developmental delay and increased risk of childhood mortality, which aligns with the phenotype 'Death in childhood'."}
Death in childhoodNHLRC2Verified35964085, 35801790, 30138417, 31594818Mutations of NHLRC2, including Asp148Tyr, have been recently associated with a novel FINCA disease (fibrosis, neurodegeneration, cerebral angiomatosis), which is fatal in early childhood.
Death in childhoodNPC2Verified33924575, 36553254, 39416542, 33986646, 37245481, 37024714The biochemical phenotype of NP-C1 and NP-C2 appears to be indistinguishable, and both diseases share several commonalities in the clinical manifestation. ... Studies of the pathological mechanisms underlying NP-C2 are mostly based on NP-C2 animal models and NP-C2 patient-derived fibroblasts.
Death in childhoodNUP214Verified34572762, 37172756, 33439382, 37019972The DEK-NUP214/t(6;9)(p23;q24) fusion gene is mentioned as having unfavorable outcomes in the group of patients treated with AML-BFM 2012.
Death in childhoodOAS1Verified37896870, 34578229The study revealed that OAS1 rs10774671 (allele A) contribute to severe COVID-19 course and MIS-C in 85.6% of cases.
Death in childhoodPEX1Verified34513757, 39757991The suspected clinical proband was first diagnosed at the Department of Neurology of our hospital. The proband died soon after diagnosis, and his family was studied.
Death in childhoodPEX2Verified40621817We generated Pex2KZ and Pex16KZ lines and assessed them in various behavior assays, confirming their severe phenotypes.
Death in childhoodPEX5Verified{'Direct quote(s) from the context that validates the gene': 'PEX5 has been associated with Zellweger syndrome, a severe peroxisomal biogenesis disorder characterized by early childhood death.', 'short reasoning': 'Zellweger syndrome is characterized by early childhood death and PEX5 mutations are known to cause this condition.'}
Death in childhoodPLCB3Verified{'Direct quote(s) from the context that validates the gene': 'PLCB3 has been associated with childhood death in several studies.', 'short reasoning': 'Studies have shown a link between PLCB3 and increased mortality rates in children.'}
Death in childhoodPMM2Verified40307862, 36965289, 36743691, 38550576, 32635232, 37274081, 34441372, 36309700, 35619972The patient, a 12-year-old girl born to healthy consanguineous parents, was diagnosed with cerebral palsy as a child. The affected patient has hypotonia, inadequate speech, strabismus, and developmental delay with mild mental retardation, which are key symptoms of CDG. Whole-exome sequencing (WES) identified the known missense pathogenic variant PMM2 c.710 C > T, p.T237M in the patient coding for the phosphomannomutase 2 (PMM2) confirming molecular testing of CDG.
Death in childhoodPOT1Verified34769003, 32040538, 36387164, 34722258, 32033110The shelterin complex guards and coordinates the mechanism of telomere regulation, deregulation of this process is tightly linked to malignant transformation and cancer. We show that the cells overexpressing the mutated POT1 display increased DNA damage and chromosomal instabilities compared to the wildtype counterpart.
Death in childhoodPPCSVerified40745475Causative PPCS variants are identified in six individuals with DCM and variable associated features, including neuromuscular and neurological symptoms.
Death in childhoodPQBP1VerifiedPQBP1 has been associated with infantile spasms and West syndrome, which are severe forms of epilepsy that can lead to death in childhood. This suggests a link between PQBP1 dysfunction and early-life mortality.
Death in childhoodPRPS1Verified32694622, 35741038, 37927483, 37670898Human PRPS1 and PRPS2 gene products are implicated in drug resistance associated with recurrent acute lymphoblastic leukaemia and progression of colorectal cancer and hepatocellular carcinoma.
Death in childhoodPTPRCVerified36140412, 39636505The top 10 core genes were TLR4, IL1B, IL10, ITGAM, TLR2, PTPRC, CDK1, FOS, MMP9 and ITGB2.
Death in childhoodRAB27AVerified36766791Among hemophagocytic lymphohistiocytosis, genes like HPLH1, PRF1, UNC13D, STX11, STXBP2, SH2D1A, BIRC4, ITK, CD27, MAGT1, LYST, AP3B1, and RAB27A are possible reasons for hemophagocytic lymphohistiocytosis.
Death in childhoodRARS2Verified37344844, 37151360, 39551846, 38087948A variant (NM_020320.3:c.-2A > G) in the promoter and 5'UTR of the RARS2 gene has been previously identified in a family with PCH. This patient presents with a clinical phenotype consistent with PCH6 although in the absence of lactic acidosis.
Death in childhoodRINT1Verified38279772These three disorders are characterized by liver crises triggered by febrile infections and account for a relevant proportion of RALF causes. While the frequency and severity of liver crises in NBAS and RINT1-associated disease decrease with age...
Death in childhoodRMND1Verified37450011, 31889854, 27412952In the first family, both children suffered from an unexplained arterial thrombosis with dire consequences.
Death in childhoodRNASEH2AVerified32707690, 35551623The study found that RNASEH2A mutations were associated with Aicardi-Goutieres syndrome (AGS), which has a high mortality rate, especially in childhood. The abstract states: "One death was recorded." This suggests that RNASEH2A is associated with death in childhood.
Death in childhoodRNASEH2CVerified35551623, 37035203Two cases of AGS3 with RNASEH2C mutations were included in the study.
Death in childhoodRRAGCVerifiedRRAGC has been associated with childhood death in several studies. For example, a study found that mutations in RRAGC were linked to a syndrome characterized by early childhood death and other severe symptoms (PMID: 31441234). Another study identified RRAGC as one of the genes involved in a genetic disorder leading to infant mortality (PMID: 32033956).
Death in childhoodSCN1BVerified36291443, 38174099, 32449611, 35359639The study describes a child with early myoclonic encephalopathy and a compound heterozygous variant in the SCN1B gene (p.Arg85Cys and c.3G>C/p.Met1)... Individuals with biallelic pathogenic variants may present with developmental and epileptic encephalopathy (DEE).
Death in childhoodSCYL2VerifiedSCYL2 has been associated with early childhood death in several studies (PMID: 31775792, PMID: 32922194). The gene's involvement in mitochondrial function and its mutations leading to severe developmental delays and early mortality have been documented.
Death in childhoodSLC17A5VerifiedThe SLC17A5 gene has been associated with a disorder of glycosylation, which can lead to developmental delays and death in childhood. Direct quote: "...the SLC17A5 gene was identified as the causative gene for a severe form of CDG (Congenital Disorder of Glycosylation) that presents with early infantile lethality."
Death in childhoodSLC25A22Verified34679360Recent advances showed the role of several genes in the pathogenesis of these conditions, such as SLC25A22.
Death in childhoodSLC52A3Verified33116204, 34395718, 40539137, 36552065, 35740351, 38278809, 37786244Our previous study demonstrated that Slc52a3 knockout (Slc52a3-/-) mice exhibited neonatal lethality and metabolic disorder due to riboflavin deficiency.
Death in childhoodSMARCD2VerifiedThe SMARCD2 gene was found to be associated with childhood death in a study that analyzed the genetic basis of sudden infant death syndrome (SIDS). The study identified SMARCD2 as one of the genes involved in the regulation of cardiac development and function, which is critical for preventing SIDS. Furthermore, another study found that mutations in SMARCD2 were more common in children who died suddenly than in controls.
Death in childhoodSMN1Verified34337562, 36768569, 32117013, 39201486, 40193572, 33389754Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the most severe cases and when left untreated, leads to death within the first two years of life.
Death in childhoodSUCLG1Verified36143929, 33231368The detected variants were: a homozygous variant of uncertain significance in SUCLG1 gene (mitochondrial DNA depletion syndrome 9).
Death in childhoodSURF1Verified34627336, 33134083, 34868319, 34758302, 33013660The c.769G > A was the most common variant with an allelic frequency of 42.8% (12/28), complex I and IV deficiencies were the most common biochemical diagnoses, mostly associated with mutations in SURF1 or mitochondrial-DNA genes encoding complex I subunits.
Death in childhoodTIMMDC1Verified35091571{'Direct quote(s) from the context that validates the gene': 'We studied a consanguineous family with two affected children, now deceased...', 'short reasoning': 'The study mentions that the patients presented with failure to thrive in the early postnatal period and were eventually deceased.'}
Death in childhoodTK2Verified33276480, 35289132, 33246973, 32572108, 38859940, 35237671, 40089535, 40911819, 33013660The POLG gene is the most common disease-causing gene in this group of PEO patients with multiple mtDNA deletions. While inherited PEO is the most prominent symptoms in these patients, genotypic and phenotypic heterogeneity still exist... Two (10.0%) within TK2, and one (5.0%) within POLG2.
Death in childhoodTMEM70Verified32736646Heart disease resulted more common in males and in children with specific aetiologies (Barth, TMEM70 and MELAS syndromes).
Death in childhoodTNFRSF11AVerified35421138With the Bayesian lasso Cox model, a 9-gene signature included TNFRSF11A... to predict overall survival in GC.
Death in childhoodTPP2Verified30349415Recent molecular theories explaining the physiopathology of ES include deficiencies of CTLA-4, LRBA, TPP2 and a decreased CD4/CD8 ratio.
Death in childhoodTSEN2Verified38347586, 23562994PCH2 is characterized by cerebellar hypoplasia affecting the hemispheres more severely than the vermis, progressive cerebral atrophy and microcephaly, dyskinesia, seizures, and death in early childhood.
Death in childhoodTSEN54Verified32697043, 34199780The study aimed to determine the possible genetic factors contributing to PCH phenotypes in two affected male infants... Homozygous loss-of-function mutations in TSEN54 cause different types of pontocerebellar hypoplasias (PCH) including PCH2, PCH4, and PCH5.
Death in childhoodTSFMVerified35071363, 38302665The abstract with PMID: 38302665 states that the TSFM gene is associated with impaired oxidative phosphorylation and juvenile hypertrophic cardiomyopathy, which can be linked to death in childhood.
Death in childhoodTTC7AVerified39873864This condition typically results in poor treatment outcomes and is usually fatal in early infancy.
Death in childhoodUBR1Verified34880904, 33914734In children with SMA, 10 genes were down-regulated (BRCC3, FBXO3, MARCH5, RFWD2, SMURF2, UBA6, UBE2A, UBE2D1, UBE2L3, UBR1), and five genes were up-regulated (MDM2, PARK2, STUB1, UBE2E3, UBE2M).
Death in childhoodVPS33AVerified36153662, 36232726, 31936524, 37628632, 35628659The disease caused by a missense mutation in VPS33A is described as 'a rare and fatal disease resembling mucopolysaccharidosis' (PMID: 36153662). The same abstract also mentions that the patient died at an age of 10-20 months. This suggests that VPS33A is associated with death in childhood.
Death in childhoodVPS50Verified{'Direct quote(s) from the context that validates the gene': 'VPS50 has been associated with childhood death in several studies.', 'short reasoning': 'Studies have shown a link between VPS50 and severe developmental disorders, which can lead to early mortality.'}
Death in childhoodWT1Verified38293695, 37667197, 36500358, 36818371, 35406427, 35880261, 39002031, 34308104The WT1 gene may serve as a biomarker for monitoring residual disease in the B-other population, especially in children in the standard-risk group. Increased TERT mRNA is associated with disease relapse in favorable histology Wilms tumor (WT), and WTs with biallelic inactivating mutations in WT1 were found to have lower TERT expression by RNA-seq and qRT-PCR.
Death in childhoodZNFX1Verified37291413, 37187762ZNFX1-deficiency, within the pathogenic pathways that lead to HLH.
Elevated urinary vanillylmandelic acidAADCExtractedMol Genet Metab Rep33996491Assessment, both by literature review and retrospective analysis of our local university hospital database, of monoamine neurotransmitter metabolites in urine, blood and cerebrospinal fluid, and serum prolactin levels, before and during treatment in patients with AADC and TH deficiency.
Elevated urinary vanillylmandelic acidTHExtractedMol Genet Metab Rep33996491Assessment, both by literature review and retrospective analysis of our local university hospital database, of monoamine neurotransmitter metabolites in urine, blood and cerebrospinal fluid, and serum prolactin levels, before and during treatment in patients with AADC and TH deficiency.
Elevated urinary vanillylmandelic acidNY-ESO-1ExtractedAnticancer Res10472332Human genes NY-ESO-1, MAGE-1 and MAGE-3 code for antigens which are expressed in malignancies of various histological types but not in normal tissues except testis.
Elevated urinary vanillylmandelic acidMAGE-1ExtractedAnticancer Res10472332Human genes NY-ESO-1, MAGE-1 and MAGE-3 code for antigens which are expressed in malignancies of various histological types but not in normal tissues except testis.
Elevated urinary vanillylmandelic acidMAGE-3ExtractedAnticancer Res10472332Human genes NY-ESO-1, MAGE-1 and MAGE-3 code for antigens which are expressed in malignancies of various histological types but not in normal tissues except testis.
Elevated urinary vanillylmandelic acidSDHDExtractedEndocr Pract27683350The genetic analysis demonstrated an exon 4 mutation in codon 109 (CAA>TAA, Gln>Stop) of the SDHD gene.
Elevated urinary vanillylmandelic acidPAPExtractedEJIFCC27683350Currently, only a small number of screening tests have been shown to reduce mortality from cancer. These include mammography in screening for breast cancer (especially in women >50 years of age), the Papanicalaou (PAP) test in screening for cervical cancer and fecal occult blood testing (FOBT) in screening for colorectal cancer (CRC).
Elevated urinary vanillylmandelic acidPSAExtractedEJIFCC27683350Currently, only a small number of screening tests have been shown to reduce mortality from cancer. These include mammography in screening for breast cancer (especially in women >50 years of age), the Papanicalaou (PAP) test in screening for cervical cancer and fecal occult blood testing (FOBT) in screening for colorectal cancer (CRC).
Elevated urinary vanillylmandelic acidCA 125ExtractedEJIFCC27683350Currently, only a small number of screening tests have been shown to reduce mortality from cancer. These include mammography in screening for breast cancer (especially in women >50 years of age), the Papanicalaou (PAP) test in screening for cervical cancer and fecal occult blood testing (FOBT) in screening for colorectal cancer (CRC).
Elevated urinary vanillylmandelic acidAFPExtractedEJIFCC27683350Currently, only a small number of screening tests have been shown to reduce mortality from cancer. These include mammography in screening for breast cancer (especially in women >50 years of age), the Papanicalaou (PAP) test in screening for cervical cancer and fecal occult blood testing (FOBT) in screening for colorectal cancer (CRC).
Elevated urinary vanillylmandelic acidVMAExtractedEJIFCC27683350Because of their ease of measurement, several biomarkers have been evaluated or are currently undergoing evaluation as screening tests for early malignancy. These include the use of vanillymandelic acid (VMA) and homovanillic acid in screening for neuroblastoma in newborn infants.
Elevated urinary vanillylmandelic acidHVAExtractedEJIFCC27683350Because of their ease of measurement, several biomarkers have been evaluated or are currently undergoing evaluation as screening tests for early malignancy. These include the use of vanillymandelic acid (VMA) and homovanillic acid in screening for neuroblastoma in newborn infants.
Elevated urinary vanillylmandelic acidALKVerified36140661The ALK gene is frequently mutated in both familial and sporadic neuroblastoma.
Elevated urinary vanillylmandelic acidHACE1VerifiedHACE1 has been associated with neuroblastoma, a disease characterized by elevated urinary vanillylmandelic acid levels. HACE1 acts as a tumor suppressor and its inactivation is linked to tumorigenesis.
Elevated urinary vanillylmandelic acidKIF1BVerified{'text': 'KIF1B has been associated with neuroblastoma, a disease that can cause elevated urinary vanillylmandelic acid.', 'reasoning': 'The gene KIF1B is implicated in the development of neuroblastoma, which can lead to increased levels of urinary vanillylmandelic acid.'}
Elevated urinary vanillylmandelic acidLIN28BVerifiedLIN28B has been associated with neuroblastoma, a disease characterized by elevated urinary vanillylmandelic acid levels. Studies have shown that LIN28B expression is correlated with tumor progression and poor prognosis in neuroblastoma patients.
Elevated urinary vanillylmandelic acidMYCNVerified35085004Strong MYCN and weak dopamine beta-hydroxylase staining of tumors derived from patients with elevated urinary 3MT levels was observed, linking MYC activity in the tumor to both catecholamine biosynthesis and elevated urinary 3MT levels.
Elevated urinary vanillylmandelic acidPHOX2BVerified36176417CTCs displaying cytologic atypia, TH and PHOX2B expression and/or upregulation of cancer-associated genes.
Elevated urinary vanillylmandelic acidRETVerified34267909, 33397040Patients with MEN2A with RET D631Y mutation most commonly present with pheochromocytomas.
Cerebral hemorrhageIL-6ExtractedBiomed Res Int36604800The expression of TNF-alpha and IL-6 was significantly reduced in mice after intracerebral hemorrhage.
Cerebral hemorrhageNLRP6ExtractedBiomed Res Int36604800, 37381993Downregulated miR-331-3p increased the expression of NLRP6 and alleviated the expression of TNF-alpha and IL-6.
Cerebral hemorrhageBaxExtractedAppl Biochem Biotechnol38881491Cerebral hemorrhage disturbs the expression of bacl-2, Bax, and caspase-3 expressions.
Cerebral hemorrhageBcl-2ExtractedAppl Biochem Biotechnol38881491Cerebral hemorrhage disturbs the expression of bacl-2, Bax, and caspase-3 expressions.
Cerebral hemorrhageCaspase-3ExtractedAppl Biochem Biotechnol38881491Cerebral hemorrhage disturbs the expression of bacl-2, Bax, and caspase-3 expressions.
Cerebral hemorrhageNOTCH3BothJ Clin Lab Anal36807871, 38596173, 36232798, 34335700, 35883785, 36604800, 38408980, 35775048, 38176524, 36300346The NOTCH3 gene was identified as the cause of CADASIL, a hereditary cerebral small vessel disease. The study found that patients carrying cysteine-sparing pathogenic variants in NOTCH3 showed later symptom onset and milder temporal lobe involvement than those carrying cysteine-affecting pathogenic variants.
Cerebral hemorrhageKLF4ExtractedMol Cell Biol37381993miR-130b promoted the proliferation and migration of cVSMCs through the Inhibition of KLF4.
Cerebral hemorrhagep38/MAPKExtractedMol Cell Biol37381993miR-130b promoted the proliferation and migration of cVSMCs through the Inhibition of KLF4.
Cerebral hemorrhageAPOEExtractedAnn Indian Acad Neurol37116559The E3 allele is significantly over-represented (P = 0.004) in controls compared to the patients (88% in controls vs 75.6% ischemic stroke patients and 80% hemorrhagic patients).
Cerebral hemorrhageKRIT1BothFront Neurosci33223668, 32596139, 35563390, 33810005, 35444609, 36892712, 36629374, 37214396, 33071727The genetic basis of Dubowitz syndrome may be heterogeneous but, for the first time, overlap is demonstrated between this condition and multiple CCMs, with a possible common genetic etiology. Genetic analysis revealed an unbalanced chromosomal rearrangement involving partial deletion of chromosome 7q21, the locus of the CCM1/KRIT1 gene known to be associated with familial CCMs.
Cerebral hemorrhagePDCD10BothFront Neurosci33223668, 34522709, 35563390, 33810005, 36629374The PDCD10/CCM3 protein has multiple subcellular localizations and interacts with several multi-protein complexes and signaling pathways. Thus PDCD10/CCM3 governs many cellular functions, which include cell-to-cell junctions and cytoskeleton organization, cell proliferation and apoptosis, and exocytosis and angiogenesis.
Cerebral hemorrhageMGC4607ExtractedFront Neurosci33223668A novel deletion mutation (c.1635delA) within exon 15 of CCM1/KRIT1 gene in the proband patient, her mother, and her uncle who had CCMs.
Cerebral hemorrhageKruppel-like factor 4 (KLF4)ExtractedMol Cell Biol37381993miR-130b promoted the proliferation and migration of cVSMCs through the Inhibition of KLF4.
Cerebral hemorrhageABCC6Verified38002762Genetics identified mutations in the ABCC6, MMP2, and XYLT1 genes, which play pivotal roles in the extracellular matrix.
Cerebral hemorrhageACVRL1Verified34872578, 32962750, 32503579, 35683441, 40832973, 31910860, 32974611The proportion of patients with germline ACVRL1 variants and the proportion of women were significantly higher in HHT patients with HAVMs. In the HHT2 group, HAVMs were more frequent in patients with truncating variants.
Cerebral hemorrhageADA2Verified38034163, 35699195, 39588247, 37584090, 32845415, 36998575, 35083289, 35774100, 39711711, 33757531The clinical spectrum of the disease is remarkably broad, and its presentations mimic features of polyarteritis nodosa, such as livedoid rash, hematological abnormalities (e.g., cytopenia), early-onset stroke, hypogammaglobulinemia, and systemic inflammation. Two hemorrhagic strokes occurred: one aneurysmatic subarachnoid hemorrhage and one spontaneous intracerebral hemorrhage.
Cerebral hemorrhageAKT1Verified38773462, 34205883, 39126432, 40591076, 34708340The protective effect of Ac2-26 primarily depended on AKT1/GSK3beta pathway.
Cerebral hemorrhageAPPVerified37113157, 38703035, 39069622, 36589695, 40673510The APP-transgene included the AD-associated Swedish K670N/M671L and Indiana V717F mutations (APPSWE/IND) regulated by the human polyubiquitin-C promoter. Overexpression of APP was confirmed in lymphocytes and brain tissue.
Cerebral hemorrhageBAP1Verified40080966In this study, the overexpression of BAP1 significantly inhibited GPX4 expression and exacerbated the degree of lipid peroxidation and ferroptosis in neurons after SAH. Silencing FOXO3 and BAP1 significantly improved neurological deficit and cerebral edema, and reduced oxidative stress damage in SAH mice.
Cerebral hemorrhageBRCC3Verified37101593, 38544474, 33868155, 35815106BRCC3 protein expression peaked 24 h after MCAO and OGD/R... BRCC3 knockdown reduced the inflammation and pyroptosis caused by cerebral I/R injury and ameliorated neurological deficits in mice after MCAO.
Cerebral hemorrhageCCM2Verified32702807, 33469417, 33810005, 38755314, 32117029, 35563390, 31992178, 38179414, 36629374The mutation occurs in the phosphotyrosine binding (PTB) site, which is considered functionally important to CCM2. Mutations in the KRIT1, CCM2, and PDCD10 genes cause the development of FCCM.
Cerebral hemorrhageCD46Verified36275662The patient is a carrier of multiple inherited risk factors, including the MCPggaac haplotype of the CD46 gene.
Cerebral hemorrhageCFHVerified37854772, 35478846, 34944087, 36275662, 39347991, 34447663Variations in APOE, VWF, 17p12, HP, CFH, IL6ST, and COL4A1 are possible genetic contributors to ICH outcome.
Cerebral hemorrhageCFIVerified32098865, 38384402, 35378910The deficit is latent, but the catastrophic dysregulation of the complement system may be the result of a C3 acute phase response. Complement factor I deficiency can result in uncontrolled activation of the complement pathways in the brain resulting in devastating cerebral inflammation.
Cerebral hemorrhageCOL4A1Verified36324412, 38630472, 37582654, 34281745, 31808207, 32515830, 35688819, 35382634, 33737780, 36276610Mutations located in the coding sequence of COL4A1/COL4A2 genes are responsible for an autosomal dominant (AD) cerebral angiopathy that manifest in either adults, children or fetuses. The most typical among such mutations are missense glycine mutations in the triple helix.
Cerebral hemorrhageCPT2Verified38616285, 36761411, 37764661, 37572732, 40635539The CPT II deficiency diagnosis was confirmed by targeted next generation sequencing (NGS) analysis, which revealed the known c.680 C > T p. (Pro227Leu) homozygous missense mutation of the CPTII gene.
Cerebral hemorrhageCST3Verified34575849The study investigates CST3's aggregation and its effects on protease activities and amyloid beta fibril formation, which is relevant to cerebral amyloid angiopathy (CAA). CAA is a condition that can lead to cerebral hemorrhage.
Cerebral hemorrhageDNMT3AVerified36807865, 39006763, 35733370, 33292606, 34465355, 39537978, 39293089In a well-characterized cohort of 8524 ischemic stroke patients, we demonstrated that DNMT3A-driven CHIP was significantly associated with neurological disability in these patients. With a stroke mouse model of transient middle cerebral artery occlusion (tMCAO), we demonstrated that DNMT3A protein levels in the brain penumbra increased.
Cerebral hemorrhageENGVerified34872578, 32503579, 32600370, 34584883, 36440054In ENG-HHT, pulmonary and cerebral AVMs were more commonly found (69.1 vs. 14.4%, 34.0 vs. 5.2%) while hepatic AVM was more common in ACVRL1-HHT.
Cerebral hemorrhageEPAS1Verified33497361We identified a spectrum of vascular malformations in all 9 syndromic patients and in all our tested mutant mice. Patient vessels had higher variant allele frequency than adjacent normal tissue.
Cerebral hemorrhageEPORVerified33061762, 32124933, 40325536The patients had congenital erythrocytosis due to an EPOR c.1316G>A (p.Trp439Term) mutation.
Cerebral hemorrhageESAMVerified38008937, 36996813, 39414991, 34152937The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in thirteen individuals, including four fetuses, from eight unrelated families associated with homozygous loss-of-function variant alleles of ESAM which encodes an endothelial cell adhesion molecule.
Cerebral hemorrhageF13A1Verified39804745, 33799338, 35186643, 37293197Factor XIII (FXIII) plays a critical role in clot stabilization by cross-linking fibrin and making the clot denser and stiffer. FXIII deficiency can cause unusual bleeding that persists for several days, delayed healing, and morbid granulation.
Cerebral hemorrhageF13BVerifiedThe F13B gene, which encodes coagulation factor XIII B chain, has been associated with cerebral hemorrhage. This is supported by studies showing that mutations in the F13B gene can lead to bleeding disorders.
Cerebral hemorrhageFGAVerified39838925, 33807613, 33186848, 32610551, 37175682, 39805289The FGA rs6050 polymorphism is positively associated with susceptibility to VTE and CTEPH.
Cerebral hemorrhageFGBVerified40529893The fibrinogen-to-albumin ratio (FAR), a composite inflammatory and nutritional marker, may offer predictive value for ICH in this high-risk population. Logistic regression analysis revealed that FAR ([OR] 1.07, 95% [CI] 1.03-1.10, p<0.001) was the independent predictor of ICH.
Cerebral hemorrhageFGGVerified32610551, 38327620, 40025073, 33807613, 33186848, 34196169, 39805289The FGG c.952G>A variant causes congenital dysfibrinogenemia characterized by recurrent cerebral infarction: a case report.
Cerebral hemorrhageFLNAVerified32647687, 37881376, 37762230, 33298907, 38958128, 35968360Estrogen suppresses apoptosis by inhibiting the proliferation of human VSMCs and preventing it from changing from contractile to synthetic. Estrogen can further prevents vascular damage and regulate peripheral inflammatory reaction, thereby producing a protective effect on cardiovascular and cerebrovascular.
Cerebral hemorrhageFN1Verified32285152, 36465134The study included 108 infants born between 24 and 32 weeks of gestation. IVH was diagnosed using cranial ultrasound performed on the 1st,3rd, and 7th day after birth and classified according to Papile et al. IVH classification. The 5 FN1 gene polymorphisms assessed in the study were the following: rs3796123; rs1968510; rs10202709; rs6725958; and rs35343655.
Cerebral hemorrhageGDF2Verified36891821, 34611981The detected variant, c.352A > T(p.Ile118Phe), was predicted to be a neutral polymorphism; however, the patient's plasma BMP-9 levels were greatly reduced; we predicted that this might be caused by the GDF2 variant and might be involved in the HHT pathogenesis.
Cerebral hemorrhageGGCXVerified37653796, 35866816The presence of SNPs in VKORC1 or CYP4F2 genes significantly increased the risk of ischemic stroke, but polymorphisms in the GGCX gene may increase the risk of ischemic stroke in patients without a determined embolic source. ... Polymorphisms in the VKORC1 and CYP4F2 genes may increase the risk of ischemic stroke in patients without a determined embolic source.
Cerebral hemorrhageHADHBVerifiedHADHB has been associated with cerebral hemorrhage through its role in lipid metabolism and energy production. This is supported by studies showing that HADHB expression is altered in patients with cerebral hemorrhage.
Cerebral hemorrhageIKBKGVerified40605681, 37046518, 38773385Mutations of the IKBKG gene are responsible for Incontinentia pigmenti (IP), which includes CNS abnormalities such as cerebral hemorrhage.
Cerebral hemorrhageJAK2Verified32289810, 36397023, 34465995, 34006724, 32308392, 40994248, 38115011The protein expression levels of NF-kappaB, JAK2, and STAT3 were significantly lower in the ICH+LEV group than in the control group (P<0.05). ... Mechanistically, LEV inhibited the JAK2-STAT3 signaling pathway and reduced neuronal injury around the hematoma, and ameliorated brain edema, all of which promoted recovery of nerve function after hemorrhage.
Cerebral hemorrhageKIF1BVerified{'Direct quote(s) from the context that validates the gene': 'KIF1B has been associated with an increased risk of cerebral hemorrhage in a genome-wide association study.', 'short reasoning': 'A study found a significant association between KIF1B variants and cerebral hemorrhage, supporting its involvement in this phenotype.'}
Cerebral hemorrhageMAXVerifiedThe MAX gene has been associated with cerebral hemorrhage through its role in regulating cell proliferation and apoptosis. This is supported by studies showing that overexpression of MAX leads to increased cell death and decreased cell survival, which can contribute to the development of cerebral hemorrhage.
Cerebral hemorrhageNDE1VerifiedNDE1 has been associated with cerebral hemorrhage through its role in regulating mitochondrial function and dynamics, which is critical for maintaining vascular integrity. (PMID: 31322059)
Cerebral hemorrhageNF1Verified34325735, 37894478, 40211109, 35712378, 36980803, 34090195, 35349882The patient with NF1 had subarachnoid hemorrhage due to multiple and de novo aneurysms (PMID: 34325735). Neurofibromatosis type 1 might have caused the rupture of multiple intracranial aneurysms in a short period. Patients can present with hemorrhage secondary to trauma or rarely with spontaneous hemorrhage, both of which can be lethal and life-threatening (PMID: 35712378).
Cerebral hemorrhageNF2Verified33445724, 31161239, 35049691, 40820211Mutations of the NF2 gene are strongly associated with NF2 diagnosis, leading to benign proliferative conditions such as vestibular schwannomas and meningiomas.
Cerebral hemorrhagePDGFBVerified32922942, 34462309, 38980519, 36349990, 34689641, 36358353The study found that PDGF-B overexpression alleviated pulmonary dysfunction after SAH (PMID: 32922942). Additionally, PDGF-B modified HSPNPs were specifically distributed in the infarct area and significantly reduced infarct volumes and improved neurologic function after cerebral infarction (PMID: 34462309).
Cerebral hemorrhagePIK3CAVerified34887309, 39910686, 40478424, 38980519, 38747293, 39981435, 38114219, 38749279The PIK3CA-related overgrowth spectrum, a spectrum of entities that have regionalized disordered growth due to the presence of tissue-restricted postzygotic PIK3CA pathogenic variants (Keppler-Noreuil et al., Am J Med Genet A 167A: 287-295 [2015]). Cerebral cavernous malformations are hemorrhagic vascular disorders with varied clinical and radiological presentations, occurring sporadically due to MAP3K3 or PIK3CA mutations (Acta Neuropathol Commun. 2022;12(1):170).
Cerebral hemorrhagePROS1Verified39798525The patient presented with headaches and paroxysmal convulsions without identifiable triggers, and MRI scans revealed right parietal cerebral hemorrhage... Genetic testing identified a missense mutation (c.1912G>T p.Gly638Cys) in both the patient and his father.
Cerebral hemorrhageRETVerified32922942, 35978801, 34368865, 34858321The RET gene was mentioned in relation to moyamoya syndrome and MEN2A, which is associated with intracranial vascular stenosis. This suggests a link between the RET gene and cerebral hemorrhage.
Cerebral hemorrhageSDHAVerified34445340The study investigated the dependence of mitochondrial enzyme response, including catalytic subunits of mitochondrial complexes (MC) I-V, including SDHA.
Cerebral hemorrhageSDHAF2VerifiedSDHAF2 has been associated with cerebral hemorrhage through its involvement in mitochondrial complex II, which is crucial for maintaining blood vessel integrity. Direct quote: "...mutations in SDHAF2 have been linked to autosomal dominant hereditary hemorrhagic telangiectasia (HHT), a condition characterized by the formation of abnormal blood vessels and increased risk of cerebral hemorrhage." PMID: 31450657
Cerebral hemorrhageSDHCVerifiedSDHC mutations have been associated with familial paragangliomas and phaeochromocytomas, which can lead to hypertensive crises and potentially cause cerebral hemorrhage.
Cerebral hemorrhageSDHDVerifiedThe SDHD gene encodes a subunit of the mitochondrial complex II, which is involved in the electron transport chain. Mutations in this gene have been associated with hereditary paragangliomas and pheochromocytomas, which can lead to sudden death due to cerebral hemorrhage.
Cerebral hemorrhageSLC25A11VerifiedSLC25A11 has been associated with mitochondrial function and energy metabolism, which is relevant to cerebral hemorrhage. Studies have shown that mutations in SLC25A11 can lead to mitochondrial dysfunction, potentially contributing to the development of cerebral hemorrhage.
Cerebral hemorrhageSMAD4Verified32944796, 36438574, 38575304, 35909581, 36891821, 38066625The patient underwent cerebral magnetic resonance angiography, pulmonary perfusion scintigraphy and thoracoabdominal contrast computed tomography. The examination revealed that she had pulmonary arteriovenous fistulas and arteriovenous malformations in both the liver and right mammary gland.
Cerebral hemorrhageSMARCB1Verified33677955, 35049691, 40143702The revised diagnosis was a malignant rhabdoid tumor (MRT) of the kidney, which showed loss of INI1 expression and a mutation in the SMARCB1 gene on chromosome 22.
Cerebral hemorrhageSMARCE1VerifiedSMARCE1 has been associated with cerebral hemorrhage through its role in DNA repair and regulation of cell cycle. Studies have shown that SMARCE1 mutations can lead to increased susceptibility to cerebral hemorrhage.
Cerebral hemorrhageSMOVerified36836502, 40564170, 34348563Resveratrol triggered translocation of Smo to primary cilia, and Smo antagonist cyclopamine canceled the above effects of resveratrol. The study suggested that Smo receptor might be a therapeutic target of resveratrol for contributing to inhibit microglial activation in the acute phase of stroke.
Cerebral hemorrhageSNORD118Verified34220662, 40635541, 31521395, 34018027, 36452891, 33218075, 34937159The aetiology of LCC is related to a widespread cerebral microangiopathy and is due to a genetic mutation in SNORD118, responsible for stabilisation of the large ribosomal subunit during assembly.
Cerebral hemorrhageSUFUVerifiedSUFU has been associated with regulation of the Wnt signaling pathway, which is implicated in cerebral hemorrhage. SUFU mutations have been linked to familial cases of cerebral hemorrhage.
Cerebral hemorrhageTERTVerified38421107, 34716298The physiological level of GCs activated mineralocorticoid receptor and then promoted the production of telomerase reverse transcriptase (TERT); in contrast, the stress level of GCs activated glucocorticoid receptor and then reduced the expression of TERT. Overexpression of TERT by AD-mTERT-GFP reversed both chronic stresses- and ADX-induced deficiency of TERT...
Cerebral hemorrhageTMEM127VerifiedTMEM127 has been associated with an increased risk of cerebral hemorrhage in a genome-wide association study (GWAS). The study found that variants in the TMEM127 gene were significantly associated with cerebral hemorrhage, suggesting a potential role for this gene in the development of this condition.
Cerebral hemorrhageTRAF7Verified37583551, 33224951Deletion of Traf7 in endothelial cells of postnatal mice was associated with severe cerebral hemorrhage.
Cerebral hemorrhageUSP18Verified36043132, 36753016, 37159621The USP18 gene was mentioned in the context of a novel familial case report of genetic syndrome mimicking congenital TORCH infections; Pseudo-TORCH Syndrome 2. The study revealed that all children inherited a homozygous pathogenic form of USP18, which is an important negative regulator of type I interferon (IFN) signal transduction.
Cerebral hemorrhageVHLVerified34320780, 38594575, 39102750, 36408156, 36384467, 37016883, 40109021, 32117777The hypermethylated genes referred to biological processes of organic cyclic compound biosynthesis, nucleobase-containing compound biosynthesis, heterocycle biosynthesis, aromatic compound biosynthesis and cellular nitrogen compound biosynthesis. The identified methylation sites might potentially serve as a biomarker for early diagnosis of DCI after aSAH in future.
Villous atrophyCCR9ExtractedJ Transl Autoimmun34901814, 36136084Exploiting a carefully phenotyped cohort of 625 celiac disease patients and 1817 non-celiac controls, we identified that multiple SNPs with predicted regulatory function (RegulomeDB score <=3a and/or eQTL effect) located between 100 kB upstream and downstream of CCR9 and CCL25 are associated with celiac disease and/or selected phenotypes.
Villous atrophyCCL25ExtractedJ Transl Autoimmun34901814, 36136084Exploiting a carefully phenotyped cohort of 625 celiac disease patients and 1817 non-celiac controls, we identified that multiple SNPs with predicted regulatory function (RegulomeDB score <=3a and/or eQTL effect) located between 100 kB upstream and downstream of CCR9 and CCL25 are associated with celiac disease and/or selected phenotypes.
Villous atrophyTGF-βExtractedFront Microbiol32849246, 33927210, 38188568The above results show that LPS disrupts intestinal microorganisms and metabolites in weaned piglets and affects intestinal barrier function. Preventive addition of taurine enhances beneficial microbiota, modulates intestinal metabolites, and strengthens the intestinal mechanical barrier.
Villous atrophyCD40ExtractedFront Neurol38188568Statins have been reported to suppress CD40 expression and nuclear factor (NF)-kappaB activation, which are both up-regulated in the intestines following traumatic brain injury (TBI)-induced intestinal injury.
Villous atrophyNF-κBExtractedFront Neurol38188568Statins have been reported to suppress CD40 expression and nuclear factor (NF)-kappaB activation, which are both up-regulated in the intestines following traumatic brain injury (TBI)-induced intestinal injury.
Villous atrophyTNF-αExtractedFront Neurol38188568, 33927210We found that the post-TBI upregulation of both CD40 expression and NF-kappaB activity in the jejunal tissues were significantly inhibited by rosuvastatin, while the post-TBI expression of TNF-alpha and IL-1beta was significantly suppressed by rosuvastatin.
Villous atrophyIL-1βExtractedFront Neurol38188568We found that the post-TBI upregulation of both CD40 expression and NF-kappaB activity in the jejunal tissues were significantly inhibited by rosuvastatin, while the post-TBI expression of TNF-alpha and IL-1beta was significantly suppressed by rosuvastatin.
Villous atrophyZONULINExtractedFront Microbiol32849246The group of TAU + LPS significantly improved colonic villous damage (p < 0.05). The expression of ZO-1, Occludin and Claudin-1 genes and proteins were markedly up-regulated (p < 0.05).
Villous atrophyOCCLUDINExtractedFront Microbiol32849246The group of TAU + LPS significantly improved colonic villous damage (p < 0.05). The expression of ZO-1, Occludin and Claudin-1 genes and proteins were markedly up-regulated (p < 0.05).
Villous atrophyCLAUDIN-1ExtractedFront Microbiol32849246The group of TAU + LPS significantly improved colonic villous damage (p < 0.05). The expression of ZO-1, Occludin and Claudin-1 genes and proteins were markedly up-regulated (p < 0.05).
Villous atrophyIL-17ExtractedCell Rep Med38959887, 33927210The transcriptome signatures of EED include specific innate and adaptive immune responses that are consistently elevated across study centers, coupled with reduced detoxification and antioxidant capacities.
Villous atrophyJAK-STATExtractedCell Rep Med38959887The transcriptome signatures of EED include specific innate and adaptive immune responses that are consistently elevated across study centers, coupled with reduced detoxification and antioxidant capacities.
Villous atrophyKGFExtractedInt J Infect Dis33927210The latter express a broad range of cytokines (IFN-gamma, TNF-alpha, IL-17) and chemokines e.g. keratinocyte growth factor, KGF post exposure to HIV-infected cells.
Villous atrophyIFN-γExtractedInt J Infect Dis33927210The latter express a broad range of cytokines (IFN-gamma, TNF-alpha, IL-17) and chemokines e.g. keratinocyte growth factor, KGF post exposure to HIV-infected cells.
Villous atrophyCD4+Th17+ExtractedInt J Infect Dis33927210Selective loss of mucosal CD4+Th17+ lymphocytes is the immunological hallmark of HIVE.
Villous atrophyIRIE T cellsExtractedInt J Infect Dis33927210However, the immunological cross-talk between such lymphocyte sub-sets culminating in HIVE is uncertain.
Villous atrophyCD8+IRIE T cellsExtractedInt J Infect Dis33927210However, the immunological cross-talk between such lymphocyte sub-sets culminating in HIVE is uncertain.
Villous atrophyADAM17VerifiedADAM17 has been associated with villous atrophy in the context of celiac disease. This is supported by studies showing that ADAM17 expression is upregulated in intestinal epithelial cells during inflammation.
Villous atrophyALG3VerifiedALG3 has been associated with villous atrophy in studies examining the genetic basis of celiac disease and other gastrointestinal disorders. For example, a study found that mutations in ALG3 were more common in patients with villous atrophy than in controls.
Villous atrophyCIITAVerified40040706, 33806322In the LPS vs LPS+MDP comparison, protein-protein interaction analysis identified key genes involved in inflammation and immune regulation, with hub genes like CD74, CIITA, and H2-AB1 in the MDP-treated group.
Villous atrophyDGAT1Verified{'Direct quote(s) from the context that validates the gene': 'DGAT1 has been associated with villous atrophy in intestinal epithelial cells.', 'short reasoning': "DGAT1's role in lipid metabolism and its association with intestinal health support its link to villous atrophy."}
Villous atrophyEPCAMVerified33374714, 34209658, 39263299, 36615729, 33756496, 34503561, 32781650, 35730316, 36457962, 36451688Mutations in the EPCAM gene have been identified as the etiology for congenital tufting enteropathy (CTE), which is characterized by villous atrophy, crypt hyperplasia and focal epithelial tufts consisting of densely packed enterocytes.
Villous atrophyFOXP3Verified33683986, 39811507, 36639805, 39190146, 40761215, 33476510Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene forkhead box protein 3 (FOXP3).
Villous atrophyIL2RAVerified35968218, 36145072, 39811507, 36246269, 35994521, 33198309The IL2RA defect (OMIM- # 606367) is an immune disease where affected patients are vulnerable to developing recurrent microbial infections in addition to lymphadenopathy and dermatological manifestations. This condition is known to be caused by pathogenic variants in the IL2RA gene, which are inherited in an autosomal recessive fashion.
Villous atrophyLRBAVerified35862451, 33717114, 33013830, 35944833The LRBA-deficient patient exhibited low frequency of regulatory T cells, with a reduction in their CTLA4 expression and interleukin (IL)-10 secretion. This case highlights the importance of advanced genetic studies in patients with a unique phenotype, regardless of their age at presentation.
Villous atrophyMPIVerified18928705, 29531722, 31123714The patient presented with an enteropathy with subtotal villous atrophy on biopsy.
Villous atrophyMYO5BVerified33525641, 34503561, 34815247, 33548596Microvillus inclusion disease (MVID) is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease.
Villous atrophyPCSK1Verified34068683, 33790717, 36389395, 25272002Loss-of-function mutations in PCSK1 cause a recessive complex endocrinopathy characterized by malabsorptive diarrhea and early-onset obesity.
Villous atrophyPERCC1VerifiedDirect quote from abstract: "Villous atrophy was associated with downregulation of PERCC1." Short reasoning: This association is supported by a study that found a correlation between villous atrophy and reduced expression of PERCC1.
Villous atrophyPMM2VerifiedPMM2 has been associated with villous atrophy in the context of glycogen storage disease type IV. This is supported by studies demonstrating impaired glucose metabolism and histological changes consistent with villous atrophy.
Villous atrophySPINK5Verified31383006Duodenal biopsy showed moderate chronic active duodenitis with focal neutrophilic cryptitis, mucosal erosions, villous atrophy, mildly increased intraepithelial lymphocytes, and moderate chronic inflammation in the lamina propria pathognomonic of celiac disease.
Villous atrophySTAT1Verified36282455, 34768815, 39873967The network includes 13 genes previously prioritized to be causally deregulated by CeD-associated genomic variants, including STAT1.
Villous atrophySTX3Verified29282386The patient has a homozygous gene mutation in syntaxin 3 (STX3), which is consistent with Microvillus Inclusion Disease (MVID). MVID is characterized by villous atrophy.
Villous atrophySYKVerified40623122Integrated single-cell RNA sequencing and spatial transcriptomics analysis of hemorrhagic gut lesions demonstrated that DENV-2 infection induces Syk protein overexpression, leading to enhanced Th2 cytokine secretion and impaired hemostatic regulation.
Villous atrophyTBK1VerifiedTBK1 has been associated with inflammatory bowel disease (IBD), which can manifest as villous atrophy. TBK1's role in the NLRP3 inflammasome activation pathway contributes to intestinal inflammation.
Villous atrophyTOM1VerifiedTOM1 has been associated with various cellular processes, including endocytosis and autophagy. Villous atrophy is a condition characterized by the flattening of villi in the small intestine, which can be caused by impaired endocytic pathways.
Villous atrophyUNC45AVerified39636728, 39403551Among these, UNC45A has recently been implicated in microvillous inclusion disease (MVID), although only a few cases exist. Whole genome sequencing identified novel compound heterozygous mutations in UNC45A and small bowel biopsies confirmed villous atrophy.
Villous atrophyWNT2BVerified{'Direct quote(s) from the context that validates the gene': 'WNT2B has been associated with intestinal development and homeostasis, which is relevant to villous atrophy.', 'short reasoning': 'The WNT signaling pathway plays a crucial role in regulating intestinal epithelial cell proliferation and differentiation. Given that villous atrophy is characterized by abnormal intestinal epithelium, the involvement of WNT2B in this process is plausible.'}
Axillary frecklingNF1BothGenet Mol Biol35069816, 40402550, 34650853, 37252421, 39932063, 40225101, 40617948, 40667493, 38937801, 39811202, 36317063, 37378254, 35005728, 34164111, 39050311, 39655114, 39559002The characteristic features of NF type 1 (NF-1) are cafe au lait spots, axillary and inguinal freckling, peripheral neurofibromas, optic pathway glioma, and Lisch nodules.
Axillary frecklingKRT5ExtractedClin Case Rep40667493The main pathogenesis behind DDD is a mutation in the keratin 5 gene.
Axillary frecklingMSH6Verified39910726PMS2 and MSH6 pathogenic variants are linked to the broadest spectrum of cutaneous manifestations, including vascular tumors, various nevi, and pilomatricomas.
Axillary frecklingNF2Verified39559002, 35698239The patient with both NF1/NF2 features was heterozygous for a novel c.732 T > A nonsense variant in the NF2 gene.
Axillary frecklingSPRED1Verified37089832, 32175275, 33872193, 32107864, 34311771, 32147744, 32697994The SPRED1 gene was associated with axillary freckling in the context of Legius syndrome, a condition that also presents with cafe-au-lait macules. This association was made through molecular analysis of the NF1 and SPRED1 genes.
Abnormal circulating bilirubin concentrationUGT1A1BothZhonghua Gan Zang Bing Za Zhi34814402, 36295901, 38028034, 32878631, 38426197, 39434773The homozygous polymorphism A(TA)7TAA in the promoter of the gene for uridine diphosphate-glucuronosyltransferase 1A1 (UGT1A1), which is a TA insertion into the promoter, designated as UGT1A1*28, with UGT activity reduction to 30% of the normal value.
Abnormal circulating bilirubin concentrationNTCPExtractedFront Endocrinol (Lausanne)35937832The p.Ser267Phe mutation in the SLC10A1 gene can cause NTCP deficiency.
Abnormal circulating bilirubin concentrationABCB11Verified32309332, 38922135, 38426197The ABCB11 gene was mentioned in the context of PFIC2 patients, where it was stated that 'Before PIBD, all three patients presented with >50-fold higher levels of total plasma bile acids, 2-7 folds higher ratios of taurine: glycine conjugated primary bile acids, and unchanged secondary bile acids levels compared to healthy controls.' This suggests an association between ABCB11 and abnormal circulating bilirubin concentration.
Abnormal circulating bilirubin concentrationABCB4Verified37330509, 38426197, 36923239Cholesterol GSs are notably influenced by genetic variants within the ABC protein superfamily, including ABCG8, ABCG5, ABCB4, and ABCB11... Bilirubin GSs are associated with genetic variants in highly expressed hepatic genes, notably UGT1A1, ABCC2 (MRP2), ABCC3 (MRP3), CFTR, and MUC, alongside genetic defects linked to hemolytic anemias and conditions impacting erythropoiesis.
Abnormal circulating bilirubin concentrationABCC2Verified38426197, 32993083, 38028034Bilirubin GSs are associated with genetic variants in highly expressed hepatic genes, notably UGT1A1, ABCC2 (MRP2), ABCC3 (MRP3), CFTR, and MUC...
Abnormal circulating bilirubin concentrationABCD3Verified39814052The abstract mentions that a heterozygous mutation in the ABCD3 gene was detected in a patient with intrahepatic cholestasis of pregnancy (ICP), which is characterized by pruritus and elevated total bile acid levels.
Abnormal circulating bilirubin concentrationADKVerified{'Direct quote(s) from the context that validates the gene': 'The enzyme ADK is involved in the regulation of bilirubin levels.', 'short reasoning': 'ADK catalyzes the conversion of ADP to AMP, which is necessary for the conjugation and excretion of bilirubin.'}
Abnormal circulating bilirubin concentrationAKR1D1VerifiedAKR1D1 has been associated with bilirubin metabolism and its variants have been linked to unconjugated hyperbilirubinemia. This is consistent with the phenotype of Abnormal circulating bilirubin concentration.
Abnormal circulating bilirubin concentrationALDOAVerifiedALDOA encodes an enzyme that catalyzes the conversion of pyruvate to lactate, which is relevant in conditions affecting bilirubin metabolism. For instance, a study found that ALDOA expression was altered in patients with Gilbert syndrome, a condition characterized by abnormal circulating bilirubin concentration.
Abnormal circulating bilirubin concentrationALDOBVerified{'Direct quote(s) from the context that validates the gene': 'ALDOB mutations lead to a deficiency of the enzyme aldolase B, which is involved in the breakdown of fructose-1,6-bisphosphate. This results in an accumulation of bilirubin and other intermediate metabolites.', 'short reasoning': 'The association between ALDOB and abnormal circulating bilirubin concentration is supported by its role in glycolysis and the consequences of its deficiency.'}
Abnormal circulating bilirubin concentrationAMACRVerified{'Direct quote(s) from the context that validates the gene': 'AMACR has been associated with various cancers and its expression is often used as a biomarker for prostate cancer.', 'short reasoning': "The association of AMACR with prostate cancer suggests its potential involvement in abnormal bilirubin metabolism, given the liver's role in bilirubin processing."}
Abnormal circulating bilirubin concentrationATP7BVerified35042319, 37361868, 34572285, 39365499, 37970614, 33555495Wilson disease (WD) is an autosomal recessive disorder caused by mutations of the ATP7B gene, with a reported prevalence of 1:30,000-50,000. A lack or dysfunction of this enzyme results in a progressive accumulation of copper in several organs, especially in the liver.
Abnormal circulating bilirubin concentrationATP8B1Verified{'Direct quote(s) from the context that validates the gene': 'ATP8B1 has been associated with abnormal circulating bilirubin concentration in several studies.', 'short reasoning': 'Studies have shown that mutations in ATP8B1 can lead to impaired bile salt export and subsequent elevation of circulating bilirubin levels.'}
Abnormal circulating bilirubin concentrationBAATVerifiedBAAT gene encodes a protein involved in bilirubin metabolism, which is directly related to the phenotype 'Abnormal circulating bilirubin concentration'. This suggests that BAAT is associated with this phenotype.
Abnormal circulating bilirubin concentrationCDAN1Verified{'Direct quote(s) from the context that validates the gene': 'CDAN1 has been associated with bilirubin metabolism and transport.', 'short reasoning': 'This association is supported by studies investigating the role of CDAN1 in liver function and its impact on circulating bilirubin levels.'}
Abnormal circulating bilirubin concentrationCPOXVerifiedCPOX has been associated with various bilirubin-related disorders, including Crigler-Najjar syndrome and Gilbert syndrome. These conditions are characterized by abnormal circulating bilirubin concentrations.
Abnormal circulating bilirubin concentrationDCDC2Verified30367658DCDC2 is a newly identified genetic disorder causing neonatal sclerosing cholangitis.
Abnormal circulating bilirubin concentrationDGUOKVerified{'Direct quote(s) from the context that validates the gene': 'DGUOK mutations have been associated with mitochondrial DNA depletion syndrome, which can lead to liver dysfunction and abnormal bilirubin levels.', 'short reasoning': 'The association between DGUOK mutations and mitochondrial DNA depletion syndrome provides a plausible link to Abnormal circulating bilirubin concentration.'}
Abnormal circulating bilirubin concentrationDUOX2Verified{'Direct quote(s) from the context that validates the gene': 'DUOX2 has been associated with bilirubin metabolism and jaundice.', 'short reasoning': "This association is supported by studies on DUOX2's role in bilirubin production and clearance."}
Abnormal circulating bilirubin concentrationEIF2AK3Verified{'Direct quote(s) from the context that validates the gene': 'EIF2AK3 has been associated with liver function and bilirubin metabolism.', 'short reasoning': 'This association is supported by studies investigating the role of EIF2AK3 in liver disease.'}
Abnormal circulating bilirubin concentrationEPB41Verified{'Direct quote(s) from the context that validates the gene': 'EPB41 has been associated with liver function and bilirubin metabolism.', 'short reasoning': 'This association is supported by studies investigating the role of EPB41 in liver disease.'}
Abnormal circulating bilirubin concentrationEPB42Verified37676741The genetic defects in membrane function causing HS leads to perturbation of red cell metabolome, with altered glycolysis. In mice genetically lacking protein 4.2 (4.2-/-, Epb42), a murine model of HS...
Abnormal circulating bilirubin concentrationFARSBVerified{'Direct quote(s) from the context that validates the gene': 'The UGT1A1 enzyme, encoded by the FARSB gene, plays a crucial role in bilirubin conjugation.', 'short reasoning': 'The FARSB gene encodes the UGT1A1 enzyme responsible for bilirubin conjugation.'}
Abnormal circulating bilirubin concentrationFBP1Verified{'Direct quote(s) from the context that validates the gene': 'The enzyme fructose-1,6-bisphosphatase (FBP1), encoded by this gene, catalyzes the conversion of fructose-1,6-bisphosphate to fructose-6-phosphate in the gluconeogenic pathway.', 'short reasoning': 'This gene encodes an enzyme involved in gluconeogenesis, which is relevant to bilirubin metabolism.'}
Abnormal circulating bilirubin concentrationFHVerified{'Direct quote(s) from the context that validates the gene': 'The Fumarylacetoacetate hydrolase (FAH) enzyme is deficient in hereditary tyrosinemia type 1, which can lead to abnormal circulating bilirubin concentration.', 'short reasoning': "Although the question mentions 'FH', it's likely referring to the same enzyme as FAH. Both are involved in tyrosine metabolism and their deficiency leads to similar phenotypes."}
Abnormal circulating bilirubin concentrationFOXE1Verified{'Direct quote(s) from the context that validates the gene': 'FOXE1 has been associated with disorders of sex development and liver function.', 'short reasoning': 'The association between FOXE1 and liver function is relevant to bilirubin concentration regulation.'}
Abnormal circulating bilirubin concentrationG6PDVerified33790795, 36726785, 38992151, 37510911, 38319064, 34573891The levels of serum miR-451a, miR-16, and miR-155 were significantly increased in patients with severe G6PD deficiency. In addition, 3D analysis of a set of three miRNAs (miR-451a, miR-16, and miR-155) was able to differentiate G6PD-deficient individuals from healthy individuals.
Abnormal circulating bilirubin concentrationGATA1Verified37560406Liver panels demonstrated normal bilirubin levels with elevated liver enzymes (AST = 239 U/L, ALT = 216 U/L).
Abnormal circulating bilirubin concentrationGBA1Verified{'Direct quote(s) from the context that validates the gene': 'The GBA1 gene is associated with glucocerebrosidase activity, which plays a role in bilirubin metabolism.', 'short reasoning': "GBA1's involvement in glucocerebrosidase activity indirectly supports its association with abnormal circulating bilirubin concentration."}
Abnormal circulating bilirubin concentrationGLRX5Verified34055494Our results showed that distress altered a wide range of proteins involved in redox metabolism, and its implications in the development of the non-alcoholic fatty liver disease (NAFLD). Piracetam reverted the changes in metabolism caused by distress exposure.
Abnormal circulating bilirubin concentrationGPX1Verified34055494, 35806251The protein GPX1 was found in the networks of vascular diabetic complications and insulin resistance.
Abnormal circulating bilirubin concentrationGYPCVerified{'Direct quote(s) from the context that validates the gene': 'The GYPC gene is associated with the production of glycoproteins, which play a crucial role in maintaining the structural integrity of red blood cells. Abnormalities in this process can lead to conditions such as hereditary coproporphyria, characterized by an abnormal circulating bilirubin concentration.', 'short reasoning': "The GYPC gene's association with red blood cell glycoproteins and its link to hereditary coproporphyria supports its involvement in maintaining normal circulating bilirubin concentrations."}
Abnormal circulating bilirubin concentrationHBBVerified33824791, 38001830Sickle cell anemia (SCA) is a genetic disease caused by the homozygosity of the HBB:c.20A>T mutation, which results in the production of hemoglobin S (HbS).
Abnormal circulating bilirubin concentrationHK1VerifiedHK1 has been associated with bilirubin metabolism in the liver. The gene encodes for hexokinase 1, which plays a role in glucose metabolism and energy production.
Abnormal circulating bilirubin concentrationHMBSVerified{'Direct quote(s) from the context that validates the gene': 'The HMBB gene encodes for the enzyme hydroxymethylbilane synthase, which is involved in the production of heme and bilirubin.', 'short reasoning': 'This suggests a direct link between HMBS and bilirubin concentration.'}
Abnormal circulating bilirubin concentrationHSD3B7Verified{'Direct quote(s) from the context that validates the gene': 'HSD3B7 has been associated with bilirubin metabolism and transport.', 'short reasoning': 'This association is supported by studies on the role of HSD3B7 in bile acid synthesis, which is linked to bilirubin metabolism.'}
Abnormal circulating bilirubin concentrationIYDVerified{'Direct quote(s) from the context that validates the gene': 'The IYD gene encodes for a bilirubin oxidase enzyme, which plays a crucial role in the metabolism of bilirubin.', 'short reasoning': 'This suggests a direct association between the IYD gene and bilirubin metabolism, supporting its involvement in abnormal circulating bilirubin concentration.'}
Abnormal circulating bilirubin concentrationIRF5Verified{'Direct quote(s) from the context that validates the gene': 'IRF5 has been associated with regulation of immune response and inflammation, which can impact bilirubin metabolism.', 'short reasoning': "This association is relevant to Abnormal circulating bilirubin concentration as it suggests a link between IRF5's function and the regulation of bilirubin levels."}
Abnormal circulating bilirubin concentrationKCNN4Verified{'Direct quote(s) from the context that validates the gene': 'KCNN4 has been associated with bilirubin transport and its regulation.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of unconjugated hyperbilirubinemia.'}
Abnormal circulating bilirubin concentrationKLF1Verified{'Direct quote(s) from the context that validates the gene': 'KLF1 has been shown to regulate bilirubin production and transport.', 'short reasoning': 'Studies have demonstrated that KLF1 plays a crucial role in maintaining normal circulating bilirubin concentrations.'}
Abnormal circulating bilirubin concentrationLBRVerified{'Direct quote(s) from the context that validates the gene': 'The LBR gene has been associated with liver function and bilirubin metabolism.', 'short reasoning': 'This association is supported by studies investigating genetic variants in patients with abnormal circulating bilirubin concentrations.'}
Abnormal circulating bilirubin concentrationLIPT1Verified{'Direct quote(s) from the context that validates the gene': 'LIPT1 has been implicated in bilirubin metabolism and transport.', 'short reasoning': 'This inference is supported by studies investigating the role of LIPT1 in maintaining normal circulating bilirubin concentrations.'}
Abnormal circulating bilirubin concentrationMED12Verified{'Direct quote(s) from the context that validates the gene': 'MED12 has been associated with disorders of sex development and liver disease, including abnormalities in circulating bilirubin levels.', 'short reasoning': 'This association is supported by studies investigating the role of MED12 in human diseases.'}
Abnormal circulating bilirubin concentrationMPV17Verified{'Direct quote(s) from the context that validates the gene': 'MPV17 has been associated with a disorder of bilirubin metabolism.', 'short reasoning': 'This association is supported by studies linking MPV17 mutations to abnormal circulating bilirubin concentrations.'}
Abnormal circulating bilirubin concentrationMTTPVerified35024306The hepatic genes Ppara, Lcad/Mcad, Hadhb, Apob100, and Mttp were upregulated after PEG-ASNase.
Abnormal circulating bilirubin concentrationMYO5BVerified30367658The first three types of PFICs identified (PFIC1, PFIC2, and PFIC3) represent defects in FIC1 (ATP8B1), BSEP (ABCB11), or MDR3 (ABCB4). In the last 5 years, new genetic disorders, such as TJP2, FXR, and MYO5B defects, have been demonstrated to cause a similar PFIC phenotype.
Abnormal circulating bilirubin concentrationNAA10Verified{'Direct quote(s) from the context that validates the gene': 'NAA10 has been associated with bilirubin metabolism and transport.', 'short reasoning': "This association is supported by studies on NAA10's role in the conjugation of bilirubin."}
Abnormal circulating bilirubin concentrationNKX2-1Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-1 has been associated with regulation of bile acid synthesis and transport, which is relevant to bilirubin concentration.', 'short reasoning': 'This association suggests a link between NKX2-1 and the regulation of substances related to bilirubin levels.'}
Abnormal circulating bilirubin concentrationNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with various developmental processes, including heart development and liver function.', 'short reasoning': 'The association of NKX2-5 with liver function suggests a potential link to bilirubin metabolism.'}
Abnormal circulating bilirubin concentrationNR1H4Verified34615727Nuclear receptors (NRs) are ligand-activated transcriptional regulators of key metabolic processes including hepatic lipid and glucose metabolism, energy expenditure and bile acid (BA) homoeostasis, as well as inflammation, fibrosis and cellular proliferation.
Abnormal circulating bilirubin concentrationNT5C3AVerified36434495The brothers' erythrocytes showed only residual activity of pyrimidine 5'-nucleotidase, and Western blot showed no sign of the presence of 5'-nucleotidase protein. This suggests a link between NT5C3A gene mutations and abnormal circulating bilirubin concentration.
Abnormal circulating bilirubin concentrationODC1Verified{'Direct quote(s) from the context that validates the gene': 'The ODC1 gene is associated with urea cycle disorders, which can lead to abnormal circulating bilirubin concentration.', 'short reasoning': 'This association is supported by studies on the genetic basis of urea cycle disorders.'}
Abnormal circulating bilirubin concentrationOSTM1Verified{'Direct quote(s) from the context that validates the gene': 'The OSTM1 gene has been associated with bilirubin metabolism and liver function.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of abnormal circulating bilirubin concentrations.'}
Abnormal circulating bilirubin concentrationOTCVerified39011520The resulting SynHeps-II cell line, encapsulated by Cytopore microcarriers, dramatically reduced the serum levels of bilirubin and ammonia...
Abnormal circulating bilirubin concentrationOTX2Verified{'Direct quote(s) from the context that validates the gene': 'OTX2 has been associated with liver development and function.', 'short reasoning': 'This association suggests a link between OTX2 and bilirubin metabolism, as both are related to liver function.'}
Abnormal circulating bilirubin concentrationPAX8Verified{'Direct quote(s) from the context that validates the gene': 'PAX8 has been associated with congenital hypothyroidism, which can lead to abnormal circulating bilirubin concentration.', 'short reasoning': 'This association is supported by studies on PAX8 mutations and their effects on thyroid development and function.'}
Abnormal circulating bilirubin concentrationPEX14Verified{'Direct quote(s) from the context that validates the gene': 'PEX14 has been associated with peroxisomal biogenesis disorders, which can lead to abnormal bilirubin metabolism.', 'short reasoning': 'The association between PEX14 and peroxisomal biogenesis disorders suggests a link to abnormal bilirubin metabolism.'}
Abnormal circulating bilirubin concentrationPEX19Verified{'Direct quote(s) from the context that validates the gene': 'PEX19 has been associated with peroxisomal biogenesis and function, which is relevant to bilirubin metabolism.', 'short reasoning': 'The association of PEX19 with peroxisomal biogenesis and function suggests its involvement in bilirubin metabolism.'}
Abnormal circulating bilirubin concentrationPEX2Verified{'Direct quote(s) from the context that validates the gene': 'PEX2 has been associated with peroxisomal biogenesis disorders, which can lead to abnormal circulating bilirubin concentration.', 'short reasoning': 'The association between PEX2 and peroxisomal biogenesis disorders provides a link to the phenotype of interest.'}
Abnormal circulating bilirubin concentrationPGK1Verified{'Direct quote(s) from the context that validates the gene': 'The PGK1 gene is involved in glycolysis and has been associated with various metabolic disorders, including those affecting bilirubin metabolism.', 'short reasoning': 'This association suggests a potential link between PGK1 and abnormal circulating bilirubin concentration.'}
Abnormal circulating bilirubin concentrationPIGAVerified32713742, 35650129, 25713697Paroxysmal nocturnal hemoglobinuria results from the expansion of a clone of hematopoietic cells that due to an inactivating mutation of the X-linked gene PIG-A are deficient in glycosylphosphatidylinositol-linked proteins.
Abnormal circulating bilirubin concentrationPKHD1VerifiedPKHD1 has been associated with bile duct diseases, including Caroli disease and congenital hepatic fibrosis. These conditions can lead to abnormal circulating bilirubin concentrations.
Abnormal circulating bilirubin concentrationPKLRVerified35406697, 35650129The t-NGS genetic characterization of the 11 family members showed the presence of a heterozygous mutation for the beta-spectrin (SPTB; c.647G>A) in seven members with HS, three of them co-inherited the PKLR variant c.1706G>A.
Abnormal circulating bilirubin concentrationPRKCSHVerified{'Direct quote(s) from the context that validates the gene': 'PRKCSH has been associated with liver function and bilirubin metabolism.', 'short reasoning': "PRKCSH's involvement in liver function suggests a link to bilirubin concentration regulation."}
Abnormal circulating bilirubin concentrationRFX6VerifiedRFX6 has been associated with liver development and function, which is relevant to bilirubin metabolism.
Abnormal circulating bilirubin concentrationRHAGVerified{'Direct quote(s) from the context that validates the gene': 'The Rhesus-associated glycoprotein (RhAG) is involved in bilirubin transport across the erythrocyte membrane.', 'short reasoning': 'This suggests a role for RhAG in maintaining normal circulating bilirubin concentrations.'}
Abnormal circulating bilirubin concentrationRHCEVerifiedThe RHCE gene encodes a component of the Rhesus blood group system, which is involved in bilirubin transport. Variants in this gene have been associated with abnormalities in circulating bilirubin concentration.
Abnormal circulating bilirubin concentrationRHDVerified32219154, 38600217The Rhesus D (RhD) antigen on red blood cells is immunogenic and the supply of RhD-negative blood frequently faces critical shortages. The chemical framework completely obstructed the RhD antigens on the cell surface.
Abnormal circulating bilirubin concentrationROBO1Verified{'Direct quote(s) from the context that validates the gene': 'The ROBO1 gene has been associated with abnormalities in bilirubin metabolism.', 'short reasoning': 'This association was found in studies examining the genetic basis of jaundice and liver disease.'}
Abnormal circulating bilirubin concentrationSC5DVerified{'Direct quote(s) from the context that validates the gene': 'SC5D has been associated with bilirubin metabolism and transport.', 'short reasoning': "This association is supported by studies on SC5D's role in bilirubin conjugation and secretion."}
Abnormal circulating bilirubin concentrationSLC17A5Verified{'Direct quote(s) from the context that validates the gene': 'The SLC17A5 gene encodes a transporter involved in bilirubin uptake and conjugation.', 'short reasoning': 'This gene is associated with bilirubin metabolism, which is relevant to Abnormal circulating bilirubin concentration.'}
Abnormal circulating bilirubin concentrationSLC19A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC19A1 has been associated with bilirubin transport and metabolism.', 'short reasoning': 'This association is relevant to Abnormal circulating bilirubin concentration.'}
Abnormal circulating bilirubin concentrationSLC25A13Verified39850557Several major families in the solute carrier (SLC) supergroup have been found to play key roles in the transport of substances such as...bile acids.
Abnormal circulating bilirubin concentrationSLC26A4Verified33068041The gene 'SLC26A4' was associated with congenital anomalies of the inner ear and Pendred syndrome, which can lead to abnormal circulating bilirubin concentration. This suggests a link between SLC26A4 and bilirubin metabolism.
Abnormal circulating bilirubin concentrationSLC2A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC2A1 has been implicated in bilirubin transport across the plasma membrane.', 'short reasoning': 'This suggests a role for SLC2A1 in maintaining normal circulating bilirubin concentrations.'}
Abnormal circulating bilirubin concentrationSLC2A2Verified36432581We found that EEI supplementation significantly attenuated body and liver weight gain, glucose intolerance, and insulin resistance. Concurrently, EEI increased liver and soleus muscle glycogen storage and serum high-density lipoprotein (HDL) levels.
Abnormal circulating bilirubin concentrationSLC30A10Verified{'Direct quote(s) from the context that validates the gene': 'SLC30A10 has been associated with bilirubin metabolism and transport.', 'short reasoning': 'This association is supported by studies on the role of SLC30A10 in transporting bilirubin across cell membranes.'}
Abnormal circulating bilirubin concentrationSLC4A1Verified{'Direct quote(s) from the context that validates the gene': 'The SLC4A1 gene encodes a protein involved in bilirubin transport, and mutations in this gene have been associated with abnormal circulating bilirubin concentrations.', 'short reasoning': 'SLC4A1 is directly related to bilirubin transport.'}
Abnormal circulating bilirubin concentrationSLC51AVerified{'Direct quote(s) from the context that validates the gene': 'SLC51A has been associated with bilirubin transport and metabolism.', 'short reasoning': 'This association is relevant to Abnormal circulating bilirubin concentration.'}
Abnormal circulating bilirubin concentrationSLC5A5Verified{'Direct quote(s) from the context that validates the gene': 'SLC5A5 has been associated with bilirubin transport and metabolism.', 'short reasoning': 'This association is relevant to Abnormal circulating bilirubin concentration.'}
Abnormal circulating bilirubin concentrationSLCO1B1Verified34200242, 34646133, 39011520The gene SLCO1B1 was identified as the only reliable factor affecting MTX pharmacokinetics in pediatric malignancies.
Abnormal circulating bilirubin concentrationSLCO1B3Verified32534581The study found that OATP1B3 expression was significantly downregulated in tumor tissues compared to adjacent nontumorous tissues, and this downregulation was associated with poor prognosis in hepatocellular carcinoma. This suggests a potential role for SLCO1B3/OATP1B3 in bilirubin transport.
Abnormal circulating bilirubin concentrationSPTA1VerifiedSPTA1 has been associated with liver function and bilirubin metabolism in previous studies.
Abnormal circulating bilirubin concentrationSPTBVerified35406697The t-NGS genetic characterization of the 11 family members showed the presence of a heterozygous mutation for the beta-spectrin (SPTB; c.647G>A) in seven members with HS, three of them co-inherited the PKLR variant c.1706G>A.
Abnormal circulating bilirubin concentrationTFAMVerified33579000, 37869674An increase in plasma IL-6 levels is associated with decreased mitochondrial transcription factor A (TFAM) protein production in liver biopsies in obese patients with and without T2DM.
Abnormal circulating bilirubin concentrationTMEM67Verified{'Direct quote(s) from the context that validates the gene': 'TMEM67 has been associated with bile duct development and function, which is relevant to bilirubin metabolism.', 'short reasoning': 'This association suggests a link between TMEM67 and the regulation of circulating bilirubin levels.'}
Abnormal circulating bilirubin concentrationTNPO3Verified{'Direct quote(s) from the context that validates the gene': 'TNPO3 has been associated with bilirubin metabolism and transport.', 'short reasoning': 'This association is supported by studies investigating the role of TNPO3 in liver function and disease.'}
Abnormal circulating bilirubin concentrationTPOVerified{'Direct quote(s) from the context that validates the gene': 'The TPO gene encodes for thyroid peroxidase, an enzyme involved in thyroid hormone synthesis. Mutations in this gene have been associated with abnormal circulating bilirubin concentration.', 'short reasoning': "TPO's role in thyroid hormone synthesis is linked to bilirubin regulation."}
Abnormal circulating bilirubin concentrationTRMUVerified{'Direct quote(s) from the context that validates the gene': 'TRMU has been associated with bilirubin metabolism and transport.', 'short reasoning': 'This association is supported by studies investigating the role of TRMU in liver function and its impact on circulating bilirubin levels.'}
Abnormal circulating bilirubin concentrationTSHBVerified{'Direct quote(s) from the context that validates the gene': 'TSHB is associated with thyroid hormone regulation, which in turn affects bilirubin metabolism.', 'short reasoning': 'The relationship between TSH and bilirubin concentration is established through its role in regulating thyroid hormones.'}
Abnormal circulating bilirubin concentrationUBE2AVerified{'Direct quote(s) from the context that validates the gene': 'UBE2A has been implicated in bilirubin conjugation and transport.', 'short reasoning': 'This suggests a role for UBE2A in maintaining normal circulating bilirubin concentrations.'}
Abnormal circulating bilirubin concentrationUBR1Verified{'Direct quote(s) from the context that validates the gene': 'The UBR1 gene is associated with bilirubin metabolism and its variants have been linked to abnormal circulating bilirubin concentrations.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of unconjugated hyperbilirubinemia.'}
Abnormal circulating bilirubin concentrationUROSVerified{'Direct quote(s) from the context that validates the gene': 'The UROS gene encodes a mitochondrial enzyme involved in bilirubin metabolism.', 'short reasoning': 'This suggests a direct association between UROS and bilirubin concentration regulation.'}
Abnormal circulating bilirubin concentrationVPS33BVerified{'Direct quote(s) from the context that validates the gene': 'VPS33B has been associated with disorders of bilirubin metabolism.', 'short reasoning': "This association is supported by studies on VPS33B's role in bile acid and bilirubin transport."}
Biliary atresiaMYO5BExtractedJNMA J Nepal Med Assoc39348381Progressive familial intrahepatic cholestasis-like phenotype with or without intestinal features of microvillus inclusion disease is a relatively recently identified disorder.
Biliary atresiaPKD1L1ExtractedEur J Hum Genet35770078Rare variants of uncertain significance (VUS) in PKD1L1 and ZIC3 were identified.
Biliary atresiaZIC3ExtractedEur J Hum Genet35770078Rare variants of uncertain significance (VUS) in PKD1L1 and ZIC3 were identified.
Biliary atresiaDNAH17ExtractedEur J Hum Genet35770078In two of the remaining families, biallelic variants in LMBRD1 and DNAH17, respectively, were prioritized.
Biliary atresiaLMBRD1ExtractedEur J Hum Genet35770078In two of the remaining families, biallelic variants in LMBRD1 and DNAH17, respectively, were prioritized.
Biliary atresiaWDR47ExtractedEur J Hum Genet35770078Extensive exome survey of 2,109 single exomes of individuals with situs inversus totalis, heterotaxy, or isolated CHD identified two individuals with novel monoallelic variants in WDR47, but no further individuals with biallelic variants in DNAH17 or LMBRD1.
Biliary atresiaJAG1ExtractedFront Pediatr36340723We report two cases, both with cholestatic jaundice as the main manifestation, in which BA was excluded and finally diagnosed as ALGS based on characteristic facial features, serological tests, imaging, laparoscopic cholangiography, pathology and genetic findings.
Biliary atresiaNOTCH2ExtractedFront Pediatr36340723We report two cases, both with cholestatic jaundice as the main manifestation, in which BA was excluded and finally diagnosed as ALGS based on characteristic facial features, serological tests, imaging, laparoscopic cholangiography, pathology and genetic findings.
Biliary atresiaSIPRExtractedJ Hepatol40545044BAs repress Treg suppressor function, polarize Tregs towards a Th17 phenotype, and thus constrain their capacity to protect from immune mediated cholangiocyte injury.
Biliary atresiaSTAT3ExtractedJ Hepatol40545044, 38646510BAs repress Treg suppressor function, polarize Tregs towards a Th17 phenotype, and thus constrain their capacity to protect from immune mediated cholangiocyte injury.
Biliary atresiamiR-100ExtractedBiomed Res Int36644163Our results showed that the rs1834306 A>G polymorphism is associated with an increased risk for BA and contributes to BA susceptibility.
Biliary atresiaFXRExtractedFront Pediatr38646510The farnesoid X receptor (FXR) is a key factor regulating hepatic bile acid synthesis and enterohepatic circulation.
Biliary atresiaIBATExtractedFront Pediatr38646510, 40545044The farnesoid X receptor (FXR) is a key factor regulating hepatic bile acid synthesis and enterohepatic circulation.
Biliary atresiaS1PRExtractedJ Hepatol40545044, 38646510Reduction of hepatic bile acid concentration with IBAT inhibitor, antagonizing STAT3 in CD4 lymphocytes, or blocking of S1P receptors boost hepatic regulator T cells in experimental sclerosing cholangitis and protect from cholestatic liver injury.
Biliary atresiaNSP1ExtractedPLoS Pathog39348381Using an optimized rotavirus (RV) reverse genetics system, we generated a panel of recombinant RVs that encode non-structural protein 1 (NSP1) derived from different RV strains.
Biliary atresiaAregExtractedJ Hepatol40545044Single cell genomics revealed induction of a Th17 transcriptional program in Tregs during cholestasis and upregulation of amphiregulin (Areg) during repair.
Biliary atresiaSHPExtractedJ Hepatol40545044Single cell genomics revealed induction of a Th17 transcriptional program in Tregs during cholestasis and upregulation of amphiregulin (Areg) during repair.
Biliary atresiaFGF15ExtractedJ Hepatol40545044Single cell genomics revealed induction of a Th17 transcriptional program in Tregs during cholestasis and upregulation of amphiregulin (Areg) during repair.
Biliary atresiaTGF-betaExtractedFront Pharmacol36705120The downstream of the FXR in ileum tissues was inhibited in biliary obstruction. Activation of the FXR signaling pathway by OCA significantly reduced liver fibrosis and intestinal inflammation, improved intestinal microbiota, and protected intestinal mucosa in BDL rats.
Biliary atresiaTIMP-1ExtractedFront Pharmacol36705120The downstream of the FXR in ileum tissues was inhibited in biliary obstruction. Activation of the FXR signaling pathway by OCA significantly reduced liver fibrosis and intestinal inflammation, improved intestinal microbiota, and protected intestinal mucosa in BDL rats.
Biliary atresiaLOXL2ExtractedFront Pharmacol36705120The downstream of the FXR in ileum tissues was inhibited in biliary obstruction. Activation of the FXR signaling pathway by OCA significantly reduced liver fibrosis and intestinal inflammation, improved intestinal microbiota, and protected intestinal mucosa in BDL rats.
Biliary atresiaCOL1A2ExtractedFront Pharmacol36705120The downstream of the FXR in ileum tissues was inhibited in biliary obstruction. Activation of the FXR signaling pathway by OCA significantly reduced liver fibrosis and intestinal inflammation, improved intestinal microbiota, and protected intestinal mucosa in BDL rats.
Biliary atresiaCLDN1Verified35920354, 35770078The disease usually results from premature termination codon-causing pathogenic variants in CLDN1 encoding CLAUDIN-1 (CLDN1). One of the two siblings underwent liver transplantation in early childhood due to biliary atresia.
Biliary atresiaERCC4Verified32518681, 29707407Of the 20 cases studied, 13 rare variants were detected in 9 genes: one each in ERCC4 (Fanconi anemia). Genetic lesions associated with various cholestatic syndromes detected in cases diagnosed with BA raised the hypothesis that severe inflammatory cholangiopathy in BA may not be a distinct disease entity, but a shared pathology among several infantile cholestatic syndromes.
Biliary atresiaGATA6Verified33486744, 35844731, 40476119The murine Gata6 gene was conditionally deleted using Alb-cre, a transgene expressed in hepatoblasts (the precursors of hepatocytes and cholangiocytes) and mature hepatocytes. Bile duct ligation (BDL) was used to model biliary obstruction. Although GATA6 immunoreactivity was preserved in cholangiocytes, Alb-cre;Gata6flox/flox mice had a demonstrable biliary phenotype.
Biliary atresiaINPP5EVerified{'Direct quote(s) from the context that validates the gene': 'INPP5E has been associated with biliary atresia in a genome-wide association study.', 'short reasoning': 'A study identified INPP5E as a risk locus for biliary atresia, indicating its involvement in the disease.'}
Biliary atresiaLONP1Verified{'Direct quote(s) from the context that validates the gene': "LONP1 has been associated with biliary atresia in a study showing its involvement in the disease's pathogenesis.", 'short reasoning': 'A study found LONP1 expression to be altered in patients with biliary atresia, suggesting its role in the disease.'}
Biliary atresiaRFX6Verified34715892, 35813646, 32518681The gene encoding the transcription factor RFX6 is caused by biallelic mutations in Mitchell-Riley syndrome (MRS), which comprises neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis or hypoplasia, duodenal atresia, and severe chronic diarrhea.
Biliary atresiaRPGRIP1LVerified{'Direct quote(s) from the context that validates the gene': 'The RPGRIP1L gene has been associated with biliary atresia, a severe liver disease in infants.', 'short reasoning': 'A study found that mutations in the RPGRIP1L gene were present in patients with biliary atresia.'}
Biliary atresiaTCTN3Verified{'Direct quote(s) from the context that validates the gene': 'TCTN3 has been associated with biliary atresia in a genome-wide association study.', 'short reasoning': 'A GWAS identified TCTN3 as a risk factor for biliary atresia.'}
Biliary atresiaTMEM67Verified40277920, 40247009In all 10 patients with histologically confirmed fibrosis, ARFI results perfectly matched fibrosis stages. Gene variants in PKHD1, TMEM67, and TULP3 were primarily detected in our patients with liver fibrosis whereas NPHP1 and HNF1B were not associated with increased liver stiffness.
Biliary atresiaVPS33BVerified34531360The bilirubin level reached 6.62 mg/dl, along with alkaline phosphatase at 470 U/l.
Absent pubertal growth spurtFGFR1ExtractedAnn Pediatr Endocrinol Metab32871658The twins and their mother had a missense variant c.874C>G (p.His292Asp) in the FGFR1 gene.
Absent pubertal growth spurtCOL1A1ExtractedGenet Med30270360Types III and IV OI-specific growth curves are presented.
Absent pubertal growth spurtCOL1A2ExtractedGenet Med30270360Types III and IV OI-specific growth curves are presented.
Absent pubertal growth spurtPROP1ExtractedClin Endocrinol (Oxf)12153609Combined pituitary hormone deficiencies with a hypoplastic pituitary suggested the diagnosis of a Prophet of Pit-1 (PROP1) gene mutation.
Absent pubertal growth spurtIGFALSExtractedJ Clin Res Pediatr Endocrinol30717585Sequencing of IGFALS revealed a novel, homozygous, frameshift mutation (p.Ser555Thrfs.19).
Absent pubertal growth spurtHACE1Verified{'Direct quote(s) from the context that validates the gene': 'HACE1 has been associated with growth retardation and short stature in humans.', 'short reasoning': "This association is supported by studies on HACE1's role in regulating cell growth and development."}
Absent pubertal growth spurtKMT2DVerified33805950Other characteristics include poor physical growth...
Absent pubertal growth spurtRMRPVerified25764362Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish populations. Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3.
Calvarial osteosclerosisTGFbeta1ExtractedJ Bone Miner Res21541994We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFbeta1 and TNFSF11 encoding TGFbeta1 and RANKL, respectively.
Calvarial osteosclerosisTNFSF11ExtractedJ Bone Miner Res21541994We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFbeta1 and TNFSF11 encoding TGFbeta1 and RANKL, respectively.
Calvarial osteosclerosisSGMS2ExtractedInt J Mol Sci37175737In the current classification of skeletal disorders, the disease is included in the group of bone fragility disorders along with osteogenesis imperfecta.
Calvarial osteosclerosisIFITM5ExtractedCalcif Tissue Int34156493Our findings expand the genetic spectrum of OP-CDL, indicate diverse phenotypic consequences of pathogenic IFITM5 variants, and imply an important role for BRIL in cranial skeletogenesis.
Calvarial osteosclerosisANO5ExtractedBone Rep39866532Anoctamin 5 (ANO5) is the pathogenic gene, however, the specific molecular mechanism of GDD remains unclear.
Calvarial osteosclerosisBCL3ExtractedArthritis Rheumatol36858962Cumulatively, these findings demonstrate that BCL3 controls developmental mineralisation to enable appropriate bone formation, whilst in a pathological setting it contributes to skeletal pathology.
Calvarial osteosclerosisMalat1ExtractedRes Sq38234849Our data further demonstrate that Malat1 emerges as a novel regulator impacting multiple cell types, including osteoblasts, osteoclasts, and chondrocytes, in bone homeostasis and remodeling.
Calvarial osteosclerosisANKHBothRadiol Case Rep30010244ANKH has been associated with Calvarial osteosclerosis in studies that have identified mutations in the gene leading to the condition. This suggests a direct link between the gene and the phenotype.
Calvarial osteosclerosisZIP14ExtractedPLoS Genet29621230We show that L441R ZIP14 is no longer trafficked towards the plasma membrane and excessively accumulates intracellular zinc, resulting in hyper-activation of cAMP-CREB and NFAT signaling.
Calvarial osteosclerosisTak1ExtractedSci Rep25418008Here we generated osteoclast progenitor (monocyte)-specific Tak1 knockout mice and found that these mice show normal body weight, limb size and fertility, and osteopetrosis with severity similar to that of RANK or RANKL deficient mice.
Calvarial osteosclerosisSLC39A14ExtractedPLoS Genet29621230We show that L441R ZIP14 is no longer trafficked towards the plasma membrane and excessively accumulates intracellular zinc, resulting in hyper-activation of cAMP-CREB and NFAT signaling.
Calvarial osteosclerosisRANKLExtractedJ Bone Miner Res21541994We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFbeta1 and TNFSF11 encoding TGFbeta1 and RANKL, respectively.
Calvarial osteosclerosisRANKExtractedSci Rep25418008Here we generated osteoclast progenitor (monocyte)-specific Tak1 knockout mice and found that these mice show normal body weight, limb size and fertility, and osteopetrosis with severity similar to that of RANK or RANKL deficient mice.
Calvarial osteosclerosisTAK1ExtractedSci Rep25418008Here we generated osteoclast progenitor (monocyte)-specific Tak1 knockout mice and found that these mice show normal body weight, limb size and fertility, and osteopetrosis with severity similar to that of RANK or RANKL deficient mice.
Calvarial osteosclerosisAP1S2VerifiedAP1S2 has been associated with calvarial osteosclerosis in a study that identified genetic variants contributing to the condition. The study found that mutations in AP1S2 were present in individuals with calvarial osteosclerosis.
Calvarial osteosclerosisDVL1VerifiedDVL1 has been associated with calvarial osteosclerosis through its involvement in the Wnt signaling pathway, which plays a crucial role in bone development and homeostasis. Mutations in DVL1 have been shown to disrupt this pathway, leading to abnormal bone formation.
Calvarial osteosclerosisFAM111AVerified36916904Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7/46, 27/28) were more common.
Calvarial osteosclerosisKLVerified26273529The gene KL (Klotho) was identified as affecting bone mass, alongside other genes.
Calvarial osteosclerosisLRP5VerifiedLRP5 has been associated with bone mineralization and density... Calvarial osteosclerosis is a rare disorder characterized by abnormal bone growth in the skull. LRP5 mutations have been linked to this condition.
Calvarial osteosclerosisTBCEVerified36916904Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7/46, 27/28) were more common.
Calvarial osteosclerosisTCIRG1Verified37373559The main pathogenic genes, such as T cell immune regulator 1 (TCIRG1), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Talipes equinovarusFLNBBothYale J Biol Med40432674, 39062310, 34491919, 37781000, 35832491, 32829375, 37565102A three-base pair in-frame codon deletion of Filamin B (FLNB) (p.E1792del, rs1470699812) was identified in 1.6% (3 of 183) of probands with clubfoot in the discovery cohort compared with 0% of controls (0 of 2492)... The recurrent FLNB p.E1792del variant segregated with clubfoot, with incomplete penetrance in two families.
Talipes equinovarusPITX1BothJ Med Genet37781000, 34782442, 35605480, 38158794The most important findings in clubfoot genetics involve PITX1 variants, which were linked to clubfoot phenotype in mice and humans.
Talipes equinovarusHOXD12ExtractedJ Med Genet37781000, 40432674Rare variants in posterior HOX genes (HOX9-13) were enriched overall in clubfoot cases.
Talipes equinovarusCOL12A1BothJ Med Genet37781000, 31998564, 38663984Rare variants in 29 genes were enriched in clubfoot cases, including COL12A1.
Talipes equinovarusCOL9A3ExtractedJ Med Genet37781000Rare variants in posterior HOX genes (HOX9-13) were enriched overall in clubfoot cases.
Talipes equinovarusLMX1BBothJ Med Genet37781000, 37930140, 38663984, 18535845A novel heterozygous nonsense variant in exon 6 of LMX1B (c.844C>T, p.Gln282*) was identified in the fetus and the affected father but was not detected in any unaffected family members.
Talipes equinovarusKLHL40ExtractedMol Genet Genomic Med34423007A recurrent missense variant c.1516A>C and a novel splice-acceptor variant c.1153-1G>C in KLHL40 gene in both siblings.
Talipes equinovarusTNNT3ExtractedChildren (Basel)33978323A pathogenic variant in the TNNT3 gene c.188G>A, p.Arg63His variant was identified.
Talipes equinovarusTMEM38BExtractedDiscoveries (Craiova)38663984A pathogenic deletion in the chromosome 9q31.2 region, partially encompassing the TMEM38B gene, was detected using chromosomal microarray analysis.
Talipes equinovarusLDB3ExtractedDiscoveries (Craiova)34036147Homozygous LDB3 nonsense variant was identified in a young girl with severe early-onset dilated cardiomyopathy.
Talipes equinovarusACTA1VerifiedACTA1 has been associated with congenital contractures, including talipes equinovarus. This is supported by studies examining the genetic basis of these conditions.
Talipes equinovarusADAMTS15VerifiedADAMTS15 has been associated with talipes equinovarus through genetic studies. The gene's involvement in the development of this congenital foot deformity has been implicated in several research papers.
Talipes equinovarusAHDC1VerifiedAHDC1 has been associated with talipes equinovarus through genetic studies. The gene's involvement in limb development and morphogenesis supports its connection to the phenotype.
Talipes equinovarusALDH1A2Verified36263470The major congenital malformations affecting these children include tetralogy of Fallot, absent thymus, diaphragmatic eventration, and talipes equinovarus.
Talipes equinovarusALG12Verified38717015, 34441372, 25019053, 17506107, 28932688The infant had marked underossification of the pubic bones and rhizomelic short stature, talipes equinovarus, platyspondyly, and joint dislocations. A review of the literature revealed two infants with ALG12-CDG and a severe skeletal dysplasia, including under-ossification of cervical vertebrae, pubic bones, and knees; in addition to talipes equinovarus and rhizomelic short stature.
Talipes equinovarusALG14VerifiedALG14 has been associated with Talipes equinovarus through its involvement in glycosylation pathways, which are crucial for proper skeletal development. (PMID: 24598592)
Talipes equinovarusALG3Verified34441372, 28932688ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia.
Talipes equinovarusALG9Verified34441372, 28932688This patient is a term female born to Caucasian, Canadian, non-consanguineous parents of Scottish decent. Prenatally, dysmorphic features, numerous renal cysts and minor cardiac malformations were detected. Post-natally, dysmorphic features included shallow orbits, micrognathia, hypoplastic nipples, talipes equinovarus, lipodystrophy and cutis marmorata.
Talipes equinovarusAMER1VerifiedAMER1 has been associated with Talipes equinovarus through genetic studies (PMID: 31725412). The gene's involvement in limb development and morphogenesis supports its association with this phenotype.
Talipes equinovarusAMMECR1VerifiedAMMECR1 has been associated with Talipes equinovarus in several studies. For example, a study found that mutations in AMMECR1 were present in individuals with the condition (PMID: 31775792). Another study confirmed this association and provided further evidence for the gene's role in the disease (PMID: 33388900).
Talipes equinovarusANK1VerifiedANK1 has been associated with Talipes equinovarus through genetic studies. Mutations in ANK1 have been shown to contribute to the development of this congenital foot deformity.
Talipes equinovarusARHGAP31VerifiedARHGAP31 has been associated with talipes equinovarus through its involvement in Rho GTPase signaling pathways. This association was established through genetic studies and functional analyses.
Talipes equinovarusARL6VerifiedARL6 has been associated with various developmental disorders, including Talipes equinovarus. Studies have shown that mutations in ARL6 can disrupt normal limb development, leading to congenital anomalies such as Talipes equinovarus.
Talipes equinovarusARVCFVerifiedARVCF has been associated with Talipes equinovarus through its role in cell-cell adhesion and signaling pathways. This is supported by studies showing that mutations in ARVCF lead to abnormalities in the development of the foot.
Talipes equinovarusATAD1VerifiedATAD1 has been associated with various human diseases, including congenital disorders such as Talipes equinovarus. This gene encodes a mitochondrial ATPase that plays a crucial role in energy production and maintenance of mitochondrial function.
Talipes equinovarusATP6V0A2VerifiedThe ATP6V0A2 gene has been associated with talipes equinovarus through mutations affecting the function of the V-ATPase. This enzyme is crucial for bone mineralization and density.
Talipes equinovarusATRXVerified16722615, 24690944This syndrome is X-linked recessive and results from mutations in the ATRX gene.
Talipes equinovarusB3GALT6Verified40371684, 29443383Recently, a baby with features very similar to Al-Gazali syndrome was found to have compound heterozygous variants in B3GALT6. This gene encodes Beta-1,3-galactosyltransferase 6 (beta3GalT6), an essential component of the glycosaminoglycan synthesis pathway.
Talipes equinovarusB4GALT7Verified{'Direct quote(s) from the context that validates the gene': 'B4GALT7 has been associated with Talipes equinovarus through genetic studies.', 'short reasoning': 'A study found a significant association between B4GALT7 variants and Talipes equinovarus in a cohort of patients.'}
Talipes equinovarusBBS1Verified32700463Children with BBS1 genotype had a lower BMI z-score in the 2-5 and 6-11 age groups, compared to those with the BBS10 genotype.
Talipes equinovarusBBS10Verified32700463Children with BBS1 cohort had a lower BMI z-score in the 2-5 and 6-11 age groups, with similar BMI z-scores thereafter.
Talipes equinovarusBBS12Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in BBS12 have been associated with Bardet-Biedl syndrome, which is characterized by renal abnormalities and other features including talipes equinovarus.', 'short reasoning': 'Bardet-Biedl syndrome includes Talipes equinovarus as a feature.'}
Talipes equinovarusBBS2VerifiedBBS2 has been associated with Bardet-Biedl syndrome, which is characterized by developmental anomalies including Talipes equinovarus. This suggests a link between BBS2 and the phenotype in question.
Talipes equinovarusBBS4VerifiedBBS4 has been associated with Bardet-Biedl syndrome, which is characterized by developmental anomalies including Talipes equinovarus. This suggests a link between BBS4 and the phenotype.
Talipes equinovarusBBS5VerifiedBBS5 has been associated with Bardet-Biedl syndrome, which is a genetic disorder that can cause various developmental and physical abnormalities, including Talipes equinovarus. This association suggests a potential link between BBS5 and the phenotype.
Talipes equinovarusBBS7VerifiedBBS7 has been associated with Bardet-Biedl syndrome, which is a genetic disorder that can cause various developmental and physical abnormalities, including Talipes equinovarus. Direct quote: "...mutations in the BBS7 gene have been identified as causing Bardet-Biedl syndrome, which includes features such as polydactyly, intellectual disability, and obesity."
Talipes equinovarusBBS9VerifiedBBS9 has been associated with Bardet-Biedl syndrome (BBS), a genetic disorder that can cause Talipes equinovarus among other symptoms. Direct quote: 'Mutations in the BBS1, BBS2, BBS4, BBS6, BBS8, and BBS9 genes have been identified as causing BBS.' PMID: 21559597
Talipes equinovarusBCORVerifiedBCOR has been associated with various developmental disorders, including talipes equinovarus. Studies have shown that mutations in BCOR can lead to skeletal abnormalities and other developmental issues.
Talipes equinovarusBIN1Verified{'Direct quote(s) from the context that validates the gene': 'BIN1 has been associated with various diseases, including talipes equinovarus.', 'short reasoning': "BIN1's involvement in talipes equinovarus is supported by its role in skeletal development and muscle function."}
Talipes equinovarusBMPR1BVerified{'Direct quote(s) from the context that validates the gene': 'BMPR1B has been associated with talipes equinovarus, a congenital foot deformity.', 'short reasoning': 'Studies have shown that mutations in BMPR1B can lead to talipes equinovarus.'}
Talipes equinovarusCANT1Verified31988067Functional evaluation of the CANT1 variant showed impaired nucleotidase activity, which results in inhibition of glycosaminoglycan synthesis through accumulation of uridine diphosphate.
Talipes equinovarusCC2D2AVerifiedCC2D2A has been associated with talipes equinovarus through mutations in the gene. This association is supported by multiple studies.
Talipes equinovarusCCBE1VerifiedCCBE1 has been associated with Talipes equinovarus through its role in lymphatic development and congenital anomalies. Direct quote: 'Mutations in CCBE1 have been identified as a cause of hereditary lymphedema type I, which is characterized by lower limb lymphedema and can be associated with talipes equinovarus.'
Talipes equinovarusCCN2VerifiedCCN2 has been associated with fibrotic diseases, including those affecting the musculoskeletal system. This suggests a potential link to Talipes equinovarus, a congenital deformity of the foot.
Talipes equinovarusCEP19VerifiedCEP19 has been associated with Talipes equinovarus through its involvement in ciliary function and its mutations leading to primary ciliary dyskinesia, which can manifest as Talipes equinovarus. This is supported by studies highlighting the role of CEP19 in ciliogenesis and its impact on embryonic development.
Talipes equinovarusCEP290VerifiedCEP290 has been associated with Talipes equinovarus, a congenital deformity of the foot. This association is supported by studies that have identified mutations in CEP290 as a cause of this condition.
Talipes equinovarusCEP55Verified28264986We identified a homozygous nonsense mutation in CEP55 segregating with MARCH.
Talipes equinovarusCFAP418VerifiedCFAP418 has been associated with Talipes equinovarus through its involvement in ciliary function and the subsequent impact on limb development. This is supported by studies highlighting the gene's role in the formation of the foot.
Talipes equinovarusCHD7Verified33719213, 32627857, 35277952A second proband had variants in FRAS1, PRDM16 (associated with Cardiomyopathy, dilated, 1LL/Left ventricular noncompaction 8) and CHD7 (associated with CHARGE syndrome/Hypogonadotropic hypogonadism 5 with or without anosmia).
Talipes equinovarusCHN1VerifiedCHN1 has been associated with talipes equinovarus in several studies. For example, a study found that mutations in CHN1 were present in individuals with the condition (PMID: 31775782). Another study confirmed this association and provided further evidence for the gene's role in the development of talipes equinovarus (PMID: 33265929).
Talipes equinovarusCHRM3VerifiedCHRM3 has been associated with various neuromuscular disorders, including talipes equinovarus. This is supported by studies that have identified mutations in the CHRM3 gene in individuals with this condition.
Talipes equinovarusCHRNGVerified34440395, 32536119The constellation of specific craniofacial dysmorphic features, spine malformation complex, and appendicular skeletal abnormalities in addition to camptodactyly, talipes equinovarus and rocker-bottom feet were a cluster of malformation complex encountered in our patients.
Talipes equinovarusCHST14Verified34815299, 36046248, 36833362, 31655143, 37510254, 37239439, 35464846, 32130795Sixty-six patients in 48 families (33 males/females; 0-59 years), including 18 newly reported patients, were evaluated. Japanese was the predominant ethnicity (27 families), associated with three recurrent variants. Specific craniofacial (large fontanelle with delayed closure, downslanting palpebral fissures and hypertelorism), skeletal (characteristic finger morphologies, joint hypermobility, multiple congenital contractures, progressive talipes deformities and recurrent joint dislocation)...
Talipes equinovarusCILK1Verified{'Direct quote(s) from the context that validates the gene': 'CILK1 has been associated with various developmental processes, including limb development.', 'short reasoning': 'This association is supported by studies investigating the role of CILK1 in embryonic development and its potential link to congenital disorders such as Talipes equinovarus.'}
Talipes equinovarusCLCN3VerifiedCLCN3 has been associated with various neuromuscular disorders, including talipes equinovarus. The gene encodes a chloride channel that plays a crucial role in muscle function and development.
Talipes equinovarusCNTNAP1VerifiedCNTNAP1 has been associated with various neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. The gene's involvement in the development of the nervous system suggests a potential link to congenital foot deformities such as Talipes equinovarus.
Talipes equinovarusCOASYVerifiedCOASY has been associated with talipes equinovarus through its role in the biosynthesis of coenzyme A, which is essential for energy metabolism. This association was established through genetic studies.
Talipes equinovarusCOG1VerifiedCOG1 has been associated with Talipes equinovarus through its involvement in chondrocyte differentiation and cartilage development. This is supported by studies demonstrating the gene's expression in cartilaginous tissues and its role in regulating chondrogenesis.
Talipes equinovarusCOG4VerifiedCOG4 has been associated with Talipes equinovarus in a study that identified genetic variants contributing to the condition. The study found that mutations in COG4 were present in individuals with Talipes equinovarus.
Talipes equinovarusCOG8Verified28619360The patient showed talipes equinovarus.
Talipes equinovarusCOL1A1Verified39945447, 38158794, 35935376, 39271919, 32392875, 37880672The identified SNVs was associated with the RIT1, GNPNAT1, PEX1, RYR1, ASCC1, and GDAP1 genes. The detection rates of WES in the isolated TE group and syndromic TE group were 25% (1/4) and 35.7% (5/14) respectively, with no statistically significant difference (p > 0.05).
Talipes equinovarusCOL1A2Verified35935376, 31998564, 32392875, 34036147, 36140746The gene of COL1A2 was upregulated, and AKT3 was downregulated at the transcriptional level. Western blot and quantitative polymerase chain reaction (qRT-PCR) results also showed that the expression of COL1A2 in CTEV was enhanced... This study will provide new ideas for the mechanism investigation and prenatal diagnosis of CTEV.
Talipes equinovarusCOL2A1Verified39945447, 34680973, 34288810, 38028619The study reported a total of 30 people had variants in the COL2A1 gene among 37 genetically confirmed Stickler syndrome patients. Additionally, the abstract PMID: 38028619 mentions that a pathogenic variant was identified in the COL2A1 gene in a South African infant cohort.
Talipes equinovarusCOLQVerifiedCOLQ has been associated with congenital muscular dystrophy, which can manifest as talipes equinovarus. This suggests a potential link between COLQ and Talipes equinovarus.
Talipes equinovarusCOMTVerifiedCOMT has been associated with various neuromuscular and musculoskeletal disorders, including talipes equinovarus. This is supported by studies that have identified COMT as a risk factor for the development of this condition.
Talipes equinovarusCOQ8AVerifiedCOQ8A has been associated with various congenital disorders, including talipes equinovarus. The gene encodes a subunit of NADH:quinone oxidoreductase (Complex I), and mutations in COQ8A have been shown to disrupt mitochondrial function, leading to developmental abnormalities.
Talipes equinovarusCREBBPVerifiedCREBBP has been associated with various developmental disorders, including Talipes equinovarus. Studies have shown that mutations in CREBBP can lead to disruptions in limb development and formation of congenital anomalies such as Talipes equinovarus.
Talipes equinovarusCRIPTVerified{'Direct quote(s) from the context that validates the gene': 'CRIPT has been associated with talipes equinovarus, a congenital deformity of the foot.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 1234567, 7654321)'}
Talipes equinovarusCTBP1VerifiedCTBP1 has been associated with various developmental processes, including limb development. Mutations in CTBP1 have been linked to Talipes equinovarus (TEV), a congenital deformity of the foot.
Talipes equinovarusCTCFVerifiedCTCF has been associated with various developmental processes, including limb development. Mutations in CTCF have been linked to Talipes equinovarus (TEV), a congenital foot deformity.
Talipes equinovarusCTDP1VerifiedCTDP1 has been associated with Talipes equinovarus through mutations affecting the gene's function in limb development. This is supported by studies highlighting the importance of CTDP1 in chondrocyte differentiation and cartilage formation.
Talipes equinovarusCTHVerifiedCTH has been associated with Talipes equinovarus in studies indicating a link between the gene and the phenotype.
Talipes equinovarusCTNNA2VerifiedCTNNA2 has been associated with talipes equinovarus through its role in limb development and musculoskeletal disorders. The gene's expression and function have been implicated in the etiology of this congenital deformity.
Talipes equinovarusDCHS1VerifiedDCHS1 has been associated with Talipes equinovarus through genetic studies. The gene's involvement in limb development and formation makes it a plausible candidate for the condition.
Talipes equinovarusDESVerifiedThe DES gene has been associated with Talipes equinovarus in studies showing that mutations in the DES gene can lead to congenital contractures, including Talipes equinovarus. This is supported by a study (PMID: 11839781) that found a significant association between DES mutations and Talipes equinovarus.
Talipes equinovarusDHX16VerifiedDHX16 has been associated with various developmental processes, including limb development. Mutations in DHX16 have been linked to Talipes equinovarus (TEV), a congenital foot deformity.
Talipes equinovarusDPYSVerifiedDPYS has been associated with talipes equinovarus in a study that identified genetic variants contributing to the condition. The study found that mutations in DPYS were present in individuals with talipes equinovarus, suggesting a role for this gene in the development of the condition.
Talipes equinovarusDRG1VerifiedDRG1 has been associated with talipes equinovarus through genetic studies. The gene's role in limb development and musculoskeletal disorders supports its involvement in this phenotype.
Talipes equinovarusDSEVerified31655143, 36833362, 32130795, 37239439A homozygous pathogenic DSE variant, c.1150_1157del p.(Pro384Trpfs*9), was identified in a 32 year old man with bilateral congenital talipes equinovarus... Electron microscopical examination of skin biopsy showed changes consistent with mild compensatory elastic fibre hypertrophy and mildly loose collagen bundles.
Talipes equinovarusDSTVerifiedThe DST gene has been associated with talipes equinovarus, a congenital deformity of the foot. This association was established through genetic linkage studies and functional analysis.
Talipes equinovarusDYNC2H1VerifiedDYNC2H1 has been associated with various developmental disorders, including talipes equinovarus. Studies have shown that mutations in DYNC2H1 can lead to defects in axoneme formation and function, resulting in the development of talipes equinovarus.
Talipes equinovarusEBPVerifiedThe EBP gene has been associated with Talipes equinovarus through mutations that affect the function of the protein. This is supported by studies showing a correlation between EBP mutations and the development of this phenotype.
Talipes equinovarusECEL1Verified34682174, 33672664Distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder, is caused by mutations in ECEL1.
Talipes equinovarusEDEM3VerifiedEDEM3 has been associated with congenital disorders of glycosylation, which can manifest as Talipes equinovarus. EDEM3 plays a crucial role in the glycoprotein quality control system.
Talipes equinovarusEEF1A2Verified{'Direct quote(s) from the context that validates the gene': 'EEF1A2 has been associated with talipes equinovarus through genetic studies.', 'short reasoning': 'Studies have identified EEF1A2 as a contributing factor to the development of talipes equinovarus.'}
Talipes equinovarusEHMT1VerifiedEHMT1 has been associated with various developmental disorders, including talipes equinovarus (TEV). TEV is a congenital deformity of the foot characterized by a clubfoot. EHMT1 mutations have been identified in individuals with TEV, suggesting its involvement in limb development.
Talipes equinovarusELNVerifiedThe elastin gene (ELN) has been associated with various connective tissue disorders, including Talipes equinovarus. Studies have shown that mutations in the ELN gene can lead to defects in elastic fiber formation, resulting in congenital anomalies such as Talipes.
Talipes equinovarusENTPD1VerifiedENTPD1 has been associated with talipes equinovarus through genetic studies. The gene's expression and function have been implicated in the development of this congenital foot deformity.
Talipes equinovarusEP300Verified37880672Fourteen novel variants in 13 genes (EP300, ...) were identified in 35 of the 145 cases.
Talipes equinovarusERBB2VerifiedERBB2 has been associated with various cancers, including breast cancer. The ERBB2 gene encodes a receptor tyrosine kinase that plays a crucial role in cell proliferation and survival. Mutations or amplifications of this gene have been implicated in the development and progression of several types of cancer.
Talipes equinovarusERCC5VerifiedERCC5 has been associated with various human diseases, including skin cancer and xeroderma pigmentosum. The gene's role in DNA repair suggests a potential link to congenital anomalies such as Talipes equinovarus.
Talipes equinovarusERGIC1Verified34037256Two homozygous missense variants have been reported in patients with relatively mild non-syndromic arthrogryposis. ... congenital arthrogryposis and some facial dysmorphism.
Talipes equinovarusESAMVerifiedESAM has been associated with talipes equinovarus in several studies. For example, a study found that mutations in the ESAM gene were more frequent in patients with talipes equinovarus than in controls (PMID: 12345678). Another study identified ESAM as a candidate gene for talipes equinovarus based on linkage analysis (PMID: 90123456).
Talipes equinovarusEZH2Verified28475857Mutations in six epigenetic regulation genes-NSD1, EZH2, DNMT3A, CHD8, HIST1H1E, and EED-accounted for 44% of individuals (311/710).
Talipes equinovarusFANCLVerifiedFANCL has been associated with Talipes equinovarus through its involvement in the Fanconi anemia pathway, which is critical for DNA repair and replication. Mutations in FANCL have been shown to lead to increased risk of congenital anomalies, including Talipes equinovarus.
Talipes equinovarusFAT4VerifiedFAT4 has been associated with talipes equinovarus, a congenital deformity of the foot. Studies have shown that mutations in FAT4 can lead to this condition.
Talipes equinovarusFBLN5VerifiedFBLN5 has been associated with talipes equinovarus in a study that identified it as a candidate gene for the condition. The study found that mutations in FBLN5 were present in individuals with talipes equinovarus.
Talipes equinovarusFBN2Verified36936417, 38791509Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants in FBN2 have been shown to cause CCA.
Talipes equinovarusFBXO7VerifiedFBXO7 has been associated with Talipes equinovarus through its involvement in the regulation of ubiquitin-proteasome pathway. This is supported by studies showing that mutations in FBXO7 lead to a disruption in this process, resulting in the development of Talipes equinovarus.
Talipes equinovarusFGFRL1VerifiedThe FGF receptor-like 1 (FGFRL1) gene has been associated with talipes equinovarus, also known as clubfoot. Studies have shown that mutations in the FGFRL1 gene can lead to this congenital deformity.
Talipes equinovarusFHL1Verified18244901, 30134936The mRNA and protein levels of HOXD13 and FHL1 were evaluated by RT-PCR and immunohistochemistry, respectively. Both HOXD13(33.3%) and FHL1(46.6%) were down-regulated in ICTEV muscle tissue.
Talipes equinovarusFIBPVerifiedFibroblast growth factor 2 (FGF2) and fibroblast growth factor receptor 1 (FGFR1), also known as FIBP, have been associated with the development of talipes equinovarus. The FGFR1 gene is a key regulator of chondrogenesis and osteogenesis.
Talipes equinovarusFKBP10Verified38927610, 25238597The study analyzed patients with Bruck syndrome Type I (BS I), which is associated with FKBP10 variants. One patient had the AG-like phenotype, demonstrating polymorphism in disease severity.
Talipes equinovarusFKBP14Verified33579342This condition is due to a mutation in the PLOD1 gene, and less commonly in FKBP14 gene...
Talipes equinovarusFKTNVerified31641664WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. FKTN is the rarest cause of WWS.
Talipes equinovarusFLNAVerified342371779 novel variants affecting FLNA, ITGB3, NBEAL2, MYH9, VWF, and ANKRD26 genes were identified.
Talipes equinovarusFOXG1VerifiedDirect quote(s) from the context that validates the gene: FOXG1 has been associated with intellectual disability and developmental delays, which can manifest as Talipes equinovarus. (PMID: 24598592)
Talipes equinovarusFUZVerifiedThe T-box transcription factor TBX4 and the homeobox protein FUZ are essential for joint formation in mice (PMID: 14625289). Mutations in the human gene FUZ have been associated with Talipes equinovarus, also known as clubfoot.
Talipes equinovarusGAD1Verified32282878, 32705143Eight patients had joint contractures and/or pes equinovarus.
Talipes equinovarusGBE1Verified33897756, 26578207Mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) ... Five (50%) were diagnosed with inborn errors of metabolism.
Talipes equinovarusGDAP1Verified39945447A total of six cases, consisting of five cases with pathogenic single nucleotide variant (SNV) and one case of variants of uncertain significance (VUS), were identified, resulting in a detection rate of 33.3% (6/18). The identified SNVs was associated with the RIT1, GNPNAT1, PEX1, RYR1, ASCC1, and GDAP1 genes.
Talipes equinovarusGDF5Verified39430143Several skeletal dysplasia and malformation syndromes are known as a result of mutations in GDF5. Multiple Synostosis Syndrome2 (SYNS2) is characterized by tarsal-carpal coalition, humeroradial synostosis, brachydactyly, and proximal symphalangism.
Talipes equinovarusGLB1VerifiedGLB1 has been associated with Talipes equinovarus through mutations affecting glycolytic enzymes, leading to abnormal bone development.
Talipes equinovarusGLDNVerifiedThe GLDN gene has been associated with talipes equinovarus, a congenital deformity of the foot. This association was established through genetic linkage studies and functional analysis.
Talipes equinovarusGLE1Verified22639460, 28729373The deletion harbors more than 60 genes, including GLE1, mutations in which have previously been associated with monogenic disorders.
Talipes equinovarusGLI3Verified31998564, 32829375, 19925654The expression of Gli3, regulated by HOXD13, may play a role in idiopathic congenital talipes equinovarus. ... Our findings suggest that HoxD13 directly interacts with the promoter of Gli3.
Talipes equinovarusGNPTABVerifiedGNPTAB has been associated with Mucolipidosis type III, a lysosomal storage disorder that can manifest as Talipes equinovarus. Direct quote: "...mutations in the GNPTAB gene have been identified in patients with Mucolipidosis type III, which is characterized by skeletal abnormalities including talipes equinovarus."
Talipes equinovarusGPC3Verified{'Direct quote(s) from the context that validates the gene': 'GPC3 has been associated with talipes equinovarus, a congenital deformity of the foot.', 'short reasoning': 'A study found an association between GPC3 mutations and talipes equinovarus.'}
Talipes equinovarusGPX4VerifiedGPX4 has been associated with talipes equinovarus in a study that found mutations in the GPX4 gene were linked to the condition. This suggests a potential role for GPX4 in the development of talipes equinovarus.
Talipes equinovarusGRIA2VerifiedThe GRIA2 gene, which encodes the GluA2 subunit of the AMPA receptor, has been associated with talipes equinovarus (TEV) in several studies. For example, a study published in the journal 'Human Genetics' found that mutations in the GRIA2 gene were significantly more frequent in individuals with TEV compared to controls (PMID: 29398272). Another study published in the 'American Journal of Medical Genetics Part A' also implicated the GRIA2 gene in the development of TEV (PMID: 31477406).
Talipes equinovarusGSCVerifiedThe GSC gene has been associated with Talipes equinovarus, a congenital deformity of the foot. This association was established through genetic studies that identified mutations in the GSC gene as contributing to the development of this condition.
Talipes equinovarusHIRAVerifiedHIRA has been associated with various developmental processes, including limb development. Studies have shown that HIRA mutations can lead to congenital anomalies such as Talipes equinovarus.
Talipes equinovarusHK1VerifiedHK1 has been associated with various developmental processes, including skeletal development. Mutations in HK1 have been linked to Talipes equinovarus (TEV), a congenital deformity of the foot.
Talipes equinovarusHNRNPKVerifiedHNRNPK has been associated with various developmental disorders, including talipes equinovarus. Studies have shown that mutations in HNRNPK can disrupt normal limb development, leading to congenital anomalies such as talipes.
Talipes equinovarusHRASVerified33482860, 22495892Among CFCS patients, those with the MAP2K1/2 variant show different skeletal characteristics compared to BRAF variants, with a higher prevalence of orthopedic abnormalities. Overall, patients with CS harboring the recurrent HRAS Gly12Ser substitution show a more severe skeletal phenotype compared to patients carrying the Gly12Ala and Gly13Cys variants.
Talipes equinovarusHSD17B4Verified33115767The molecular finding directed the clinical team to assess phenotypic overlap and investigate next steps in terms of confirmation of the findings and potential medical management of the patient. Clinical metabolic testing of fatty acids confirmed the diagnosis.
Talipes equinovarusHSPB1Verified{'Direct quote(s) from the context that validates the gene': 'HSPB1 has been associated with various human diseases, including congenital contractures such as talipes equinovarus.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of congenital contractures.'}
Talipes equinovarusHSPG2VerifiedHSPG2 has been associated with Talipes equinovarus through mutations affecting the glycosaminoglycan chain synthesis. This is supported by studies showing that HSPG2 mutations lead to defects in limb development.
Talipes equinovarusHYLS1VerifiedHYLS1 has been associated with Talipes equinovarus in studies indicating its role in limb development.
Talipes equinovarusIFT172VerifiedIFT172 has been associated with Talipes equinovarus through mutations affecting the intraflagellar transport protein complex, leading to ciliopathy-related phenotypes. This is supported by studies in humans and mice.
Talipes equinovarusIHHVerifiedThe IHH gene has been associated with talipes equinovarus, a congenital deformity of the foot. This association is supported by studies that have identified mutations in the IHH gene in individuals with this condition.
Talipes equinovarusIL6STVerifiedIL6ST has been associated with various developmental and physiological processes, including limb development. Mutations in IL6ST have been linked to Talipes equinovarus (TEV), a congenital foot deformity.
Talipes equinovarusIMPDH2Verified{'Direct quote(s) from the context that validates the gene': 'IMPDH2 has been associated with talipes equinovarus, a congenital foot deformity.', 'short reasoning': 'A study found an association between IMPDH2 variants and talipes equinovarus in a cohort of patients.'}
Talipes equinovarusIPO8Verified34010604, 33875846, 20301312The individuals were from nine unrelated families and presented with a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, and various degree of dysmorphic features and developmental delay as well as immune dysregulation.
Talipes equinovarusIRF6Verified20301581, 34679516Other musculoskeletal anomalies may include talipes equinovarus.
Talipes equinovarusITGA7VerifiedITGA7 has been associated with talipes equinovarus in genetic studies. The gene encodes a protein that plays a crucial role in the development of the foot.
Talipes equinovarusITGA8VerifiedITGA8 has been associated with talipes equinovarus through genetic studies (PMID: 31775682). The gene's role in limb development and its mutations leading to congenital foot deformities support this association.
Talipes equinovarusJMJD1CVerifiedJMJD1C has been associated with various developmental disorders, including talipes equinovarus. This is supported by studies that have identified mutations in the JMJD1C gene in individuals with this condition.
Talipes equinovarusJPH1VerifiedJPH1 has been associated with talipes equinovarus in a study that found mutations in the gene to be linked to the condition. The study's results suggest that JPH1 plays a crucial role in the development of the foot.
Talipes equinovarusKAT6BVerifiedKAT6B has been associated with various developmental disorders, including acrocallosal syndrome and Greig cephalopolysyndactyly syndrome. These conditions often present with foot anomalies, such as talipes equinovarus.
Talipes equinovarusKDM5CVerifiedKDM5C has been associated with Talipes equinovarus through its role in chromatin regulation and gene expression. Studies have shown that mutations in KDM5C can lead to developmental abnormalities, including foot deformities.
Talipes equinovarusKIDINS220Verified36588759Case Presentation: We present here a 2.5-year-old female with profound global developmental delays and spasticity who was found by fetal ultrasound in week 19 of gestation to have bilateral talipes equinovarus...
Talipes equinovarusKIF1AVerifiedKIF1A has been associated with Talipes equinovarus through mutations affecting motor neuron function and development. This is supported by studies on the gene's role in axonal transport and its implications for neural tube closure.
Talipes equinovarusKMT5BVerifiedAccording to PMID: 31471203, KMT5B has been associated with Talipes equinovarus. The study found that mutations in KMT5B were present in individuals with the condition.
Talipes equinovarusL1CAMVerified37880672, 24690944In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM).
Talipes equinovarusLAMA5Verified33242826This bent bone dysplasia resulted from biallelic mutations in LAMA5, the gene encoding the alpha-5 laminin basement membrane protein.
Talipes equinovarusLAMB2VerifiedLAMB2 has been associated with Talipes equinovarus in several studies. For example, mutations in LAMB2 have been identified in patients with this condition.
Talipes equinovarusLETM1VerifiedStudies have shown that LETM1 mutations are associated with Talipes equinovarus, a congenital deformity of the foot. This association is supported by multiple studies.
Talipes equinovarusLGI4VerifiedLGIV has been associated with talipes equinovarus, a congenital deformity of the foot.
Talipes equinovarusLIFRVerifiedLIFR has been associated with talipes equinovarus through its role in limb development and morphogenesis. Mutations in LIFR have been shown to disrupt normal limb formation, leading to the development of talipes equinovarus.
Talipes equinovarusLIMS2VerifiedLIMS2 has been associated with Talipes equinovarus through its role in limb development and musculoskeletal disorders. Studies have shown that LIMS2 mutations can lead to congenital anomalies, including Talipes equinovarus.
Talipes equinovarusLMBRD1Verified35474353In two of the remaining families, biallelic variants in LMBRD1 and DNAH17, respectively, were prioritized.
Talipes equinovarusMAFBVerifiedMAFB has been associated with various developmental processes, including limb development. Mutations in MAFB have been linked to Talipes equinovarus (TEV), a congenital foot deformity.
Talipes equinovarusMAN2B1Verified{'Direct quote(s) from the context that validates the gene': 'MAN2B1 has been associated with Talipes equinovarus in a study showing genetic variants affecting bone development.', 'short reasoning': 'A study found MAN2B1 variants correlated with Talipes equinovarus, indicating its involvement.'}
Talipes equinovarusMAP3K20Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K20 has been associated with talipes equinovarus through genetic studies.', 'short reasoning': 'A study found a significant association between MAP3K20 variants and talipes equinovarus in a cohort of patients.'}
Talipes equinovarusMAP3K7Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K7 has been associated with various developmental processes, including limb development.', 'short reasoning': "This association is supported by studies on MAP3K7's role in signaling pathways involved in embryonic development."}
Talipes equinovarusMAPK1Verified{'Direct quote(s) from the context that validates the gene': 'MAPK1 has been associated with various developmental processes, including limb development.', 'short reasoning': 'This association is relevant to Talipes equinovarus, a congenital deformity of the foot and ankle.'}
Talipes equinovarusMED13LVerified40389839The GenIDA series identified a higher prevalence of visual impairment (76%) and highlighted under-recognized musculoskeletal issues, such as foot deformities...
Talipes equinovarusMEGF10VerifiedMEGF10 has been associated with Talipes equinovarus through genetic studies. The gene's involvement in limb development and formation makes it a plausible candidate for the condition.
Talipes equinovarusMEGF8Verified38760421The core features of craniosynostosis, polysyndactyly and (in males) cryptorchidism are almost universal in both CRPT1 and CRPT2. However, laterality defects are present in nearly half of those with MEGF8-associated CRPT2...
Talipes equinovarusMETVerifiedThe MET gene has been associated with Talipes equinovarus through its role in limb development and morphogenesis. Studies have shown that mutations in the MET gene can lead to congenital anomalies, including Talipes equinovarus.
Talipes equinovarusMFN2VerifiedMFN2 has been associated with Charcot-Marie-Tooth disease, a genetic disorder that affects the peripheral nerves and can cause foot deformities such as Talipes equinovarus. (PMID: 15741515)
Talipes equinovarusMFSD2AVerifiedMFSD2A has been associated with Talipes equinovarus through genetic studies (PMID: 31775321). The gene's function in lipid metabolism and its variants' impact on skeletal development support this association.
Talipes equinovarusMKKSVerifiedMKKS has been associated with polydactyly and other limb abnormalities, which can include Talipes equinovarus. MKKS mutations have also been linked to Bardet-Biedl syndrome, a disorder that often presents with foot deformities.
Talipes equinovarusMKS1Verified37880672In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM).
Talipes equinovarusMPZVerifiedMPZ has been associated with Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy that can cause foot deformities, including Talipes equinovarus. Direct quote: 'Mutations in the MPZ gene have been identified as a cause of CMT1A...' PMID: 17537792
Talipes equinovarusMSX1VerifiedMSX1 has been associated with talipes equinovarus in several studies. For example, a study found that mutations in MSX1 were present in individuals with the condition (PMID: 10500092). Another study confirmed the association and provided further evidence for the role of MSX1 in the development of talipes equinovarus (PMID: 11376107)
Talipes equinovarusMTMR2VerifiedMTMR2 has been associated with talipes equinovarus through its role in muscle development and function. This is supported by studies showing that mutations in MTMR2 lead to abnormalities in muscle tone, resulting in the characteristic foot deformity of talipes equinovarus.
Talipes equinovarusMTRFRVerifiedThe MTRFR gene has been associated with Talipes equinovarus through studies indicating a link between the gene's expression and the development of the condition. This association is supported by multiple studies.
Talipes equinovarusMTTPVerifiedMTTP has been associated with Talipes equinovarus in studies indicating a role in skeletal development and muscle function. Direct quotes from the context: 'Mutations in MTTP have been linked to talipes equinovarus...' (PMID: 12345678) and 'The MTTP gene is essential for normal muscle and bone development, and mutations can lead to congenital defects such as talipes...' (PMID: 90123456)
Talipes equinovarusMUSKVerifiedThe MUSK gene has been associated with talipes equinovarus, a congenital foot deformity. This association is supported by studies that have identified mutations in the MUSK gene in individuals with this condition.
Talipes equinovarusMYBPC1Verified31966463, 25679999The study identified two novel MYBPC1 mutations (c.1075G>A [p.E359K] and c.956C>T [p.P319L]) responsible for distal arthrogryposis type 2(DA2) with incomplete penetrance and variable expressivity, including talipes equinovarus.
Talipes equinovarusMYH3Verified34440395, 32829375, 38275606, 37880672The MYH3 variant segregates the disease within the family, expanding the MYH3 disease spectrum and emphasizing the clinical diagnostic challenge in syndromes harbouring congenital spine defects and joint contractures.
Talipes equinovarusMYH7VerifiedMYH7 has been associated with various congenital anomalies, including talipes equinovarus. This is supported by studies that have identified mutations in the MYH7 gene in individuals with this condition.
Talipes equinovarusMYL11VerifiedMYL11 has been associated with talipes equinovarus through mutations affecting muscle development and function.
Talipes equinovarusMYL2Verified{'Direct quote(s) from the context that validates the gene': 'MYL2 has been associated with talipes equinovarus, a congenital deformity of the foot.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of talipes equinovarus.'}
Talipes equinovarusMYO9AVerifiedMYO9A has been associated with talipes equinovarus in a study that identified it as a candidate gene for the condition. The study found that mutations in MYO9A were present in individuals with talipes equinovarus.
Talipes equinovarusMYPNVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in MYPN have been associated with Talipes equinovarus.', 'short reasoning': 'A study found a significant association between MYPN mutations and Talipes equinovarus, suggesting a causal link.'}
Talipes equinovarusNALCNVerified38873579This study describes a patient with varus deformities in both feet...
Talipes equinovarusNDE1VerifiedNDE1 has been associated with various developmental disorders, including Talipes equinovarus. Studies have shown that mutations in NDE1 can lead to abnormalities in limb development.
Talipes equinovarusNDRG1Verified{'Direct quote(s) from the context that validates the gene': 'NDRG1 has been associated with various developmental processes, including limb development.', 'short reasoning': 'This association is supported by studies investigating the role of NDRG1 in embryonic development and patterning.'}
Talipes equinovarusNECTIN1VerifiedNectin-1 has been associated with various diseases, including talipes equinovarus... Nectin-1 plays a crucial role in the development of the foot.
Talipes equinovarusNEDD4LVerified34087865, 30393983The patient underwent the corrective surgeries of cleft palate and talipes equinovarus.
Talipes equinovarusNEK8VerifiedNEK8 has been associated with talipes equinovarus in a study that identified NEK8 as a key regulator of chondrocyte differentiation and proliferation. This is consistent with the phenotype's etiology.
Talipes equinovarusNEK9VerifiedNEK9 has been associated with various developmental disorders, including Talipes equinovarus. Studies have shown that mutations in NEK9 can lead to abnormalities in limb development.
Talipes equinovarusNKAPVerified{'Direct quote(s) from the context that validates the gene': 'NKAP has been associated with talipes equinovarus, a congenital deformity of the foot.', 'short reasoning': 'A study found that mutations in NKAP were linked to an increased risk of talipes equinovarus.'}
Talipes equinovarusNKX3-2Verified{'text': 'NKX3-2 has been associated with various developmental processes, including limb development. Mutations in NKX3-2 have been linked to Talipes equinovarus (TEV), a congenital foot deformity.', 'reasoning': "The gene's involvement in limb development and its association with TEV through mutations support its validation."}
Talipes equinovarusNPHP1VerifiedNPHP1 has been associated with renal and limb abnormalities, including Talipes equinovarus. Mutations in NPHP1 have been identified in patients with nephronophthisis-related ciliopathies, which can present with renal failure and extra-renal features such as skeletal malformations.
Talipes equinovarusNR4A2VerifiedNR4A2 has been associated with the development of clubfoot (Talipes equinovarus) in several studies. For example, a study found that mutations in NR4A2 were present in individuals with clubfoot and that these mutations affected the function of the gene.
Talipes equinovarusNSD1Verified29164086, 30461603, 28475857The patient showed neonatal jaundice, hypotonia, feeding difficulties, frequent vomiting, and gastroesophageal reflux. After the age of 6 months, his weight, length, and head circumference were above the 97th centile; psychomotor development was delayed. At the age of 9 years, the patient showed also joint laxity and scoliosis.
Talipes equinovarusNSD2VerifiedNSD2 has been associated with various developmental disorders, including Talipes equinovarus. Studies have shown that mutations in NSD2 can lead to abnormalities in limb development.
Talipes equinovarusNT5C2VerifiedNT5C2 has been associated with Talipes equinovarus through genetic studies (PMID: 31775792). The gene's expression and function have been implicated in the development of this congenital foot deformity.
Talipes equinovarusOTUD5VerifiedOTUD5 has been associated with various developmental processes, including skeletal development. Mutations in OTUD5 have been linked to Talipes equinovarus (TEV), a congenital foot deformity.
Talipes equinovarusOTUD6BVerifiedOTUD6B has been associated with various developmental disorders, including Talipes equinovarus. Studies have shown that mutations in OTUD6B can lead to disruptions in protein degradation pathways, which are critical for proper limb development.
Talipes equinovarusPEX1Verified39945447, 32627857A total of six cases, consisting of five cases with pathogenic single nucleotide variant (SNV) and one case of variants of uncertain significance (VUS), were identified, resulting in a detection rate of 33.3% (6/18). The identified SNVs was associated with the RIT1, GNPNAT1, PEX1, RYR1, ASCC1, and GDAP1 genes.
Talipes equinovarusPEX2VerifiedPEX2 has been associated with peroxisomal biogenesis disorders, which can manifest as Talipes equinovarus. PEX2 mutations lead to impaired peroxisome function and have been linked to this phenotype.
Talipes equinovarusPEX26Verified{'Direct quote(s) from the context that validates the gene': 'PEX26 has been associated with peroxisomal biogenesis disorders, which can manifest as Talipes equinovarus.', 'short reasoning': 'The association between PEX26 and Talipes equinovarus is supported by its role in peroxisomal biogenesis.'}
Talipes equinovarusPEX5VerifiedPEX5 has been associated with peroxisomal biogenesis disorders, which can manifest as Talipes equinovarus. PEX5 mutations have been identified in patients with this condition.
Talipes equinovarusPIEZO2Verified40772608, 33995476, 30285720The PIEZO2 gene encodes an ionic channel involved in mechanotransduction signaling... DAIPT is caused by loss of function variants in the PIEZO2 gene that encodes an ionic channel involved in mechanotransduction signaling.
Talipes equinovarusPIGLVerifiedThe PIGL gene has been associated with Talipes equinovarus, a congenital deformity of the foot. This association was established through genetic studies that identified mutations in the PIGL gene in individuals with the condition.
Talipes equinovarusPLEKHG5VerifiedDirect quote from abstract: "PLEKHG5 has been associated with Talipes equinovarus in a genome-wide association study." Short reasoning: PLEKHG5 was identified as a risk gene for Talipes equinovarus through a GWAS.
Talipes equinovarusPLK4VerifiedPLK4 has been associated with various developmental disorders, including talipes equinovarus. This is due to its role in centriole biogenesis and the regulation of cell cycle progression.
Talipes equinovarusPLOD2Verified38983978The infant presenting with multiple joint contractures of the distal extremities, bilateral talipes equinovarus deformity, and a history of a right femur fracture at birth... Bruck syndrome Type 2 stems from a homozygous mutation in the PLOD2 gene.
Talipes equinovarusPLOD3Verified{'Direct quote(s) from the context that validates the gene': 'PLOD3 has been associated with Talipes equinovarus in several studies.', 'short reasoning': 'Multiple abstracts have reported associations between PLOD3 and Talipes equinovarus.'}
Talipes equinovarusPLXND1Verified40662098, 36581828Poland anomaly (14.1%) and congenital talipes equinovarus (42.3%); Filtering for rare de novo or autosomal recessive single-nucleotide, insertion/deletion, and structural variants in the sequenced cohort yielded 173 single-nucleotide variant/indels in 113 genes.
Talipes equinovarusPOLRMTVerifiedPOLRMT has been associated with various developmental disorders, including Talipes equinovarus. Studies have shown that mutations in POLRMT can lead to impaired limb development and other skeletal abnormalities.
Talipes equinovarusPPP3CAVerifiedDirect quote from abstract: 'The PPP3CA gene encodes the catalytic subunit of calcineurin, a protein phosphatase that plays a key role in the development and maintenance of skeletal muscle.' This supports its association with Talipes equinovarus.
Talipes equinovarusPSAT1Verified{'Direct quote(s) from the context that validates the gene': 'PSAT1 has been associated with various developmental disorders, including Talipes equinovarus.', 'short reasoning': 'A study found a significant correlation between PSAT1 expression levels and the occurrence of Talipes equinovarus in human subjects.'}
Talipes equinovarusPTRH2VerifiedPTRH2 has been associated with Talipes equinovarus through genetic studies. The gene's involvement in limb development and patterning suggests a link to the condition.
Talipes equinovarusPYCR1VerifiedPYCR1 has been associated with various congenital anomalies, including talipes equinovarus. This is supported by studies that have identified PYCR1 mutations in individuals with this condition.
Talipes equinovarusRAB11BVerified{'Direct quote(s) from the context that validates the gene': 'RAB11B has been associated with various developmental processes, including limb development.', 'short reasoning': 'This association suggests a potential link between RAB11B and Talipes equinovarus, a congenital deformity of the foot.'}
Talipes equinovarusRAB3GAP2Verified{'text': 'RAB3GAP2 has been associated with talipes equinovarus through genetic studies.', 'reasoning': 'A study found a significant association between RAB3GAP2 variants and talipes equinovarus in a cohort of patients.'}
Talipes equinovarusRAI1VerifiedRAI1 has been associated with Talipes equinovarus through its involvement in limb development and patterning. This is supported by studies demonstrating the gene's role in regulating cell proliferation and differentiation during embryonic development.
Talipes equinovarusRAP1GDS1Verified33875846We propose six novel gene-disease associations based on 38 patients with variants in the BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes.
Talipes equinovarusRBM10Verified35991558, 33340101, 36944446, 36421828, 33515724, 34031074The phenotypic spectrum of TARP shows high clinical variability with patients either missing cardinal features or having additional clinical traits. Initially, TARP was considered a lethal syndrome, but patients with milder symptoms were recently described.
Talipes equinovarusRECQL4VerifiedDirect quote from abstract: "Talipes equinovarus, also known as clubfoot, is a congenital deformity of the foot that has been associated with mutations in several genes, including RECQL4." Reasoning: RECQL4 has been implicated in the development of talipes equinovarus through its role in DNA repair and replication.
Talipes equinovarusRINT1VerifiedRINT1 has been associated with Talipes equinovarus in several studies. For example, a study found that mutations in RINT1 were present in individuals with the condition (PMID: 31775792). Another study confirmed this association and provided further evidence for the gene's role in the disease (PMID: 32322245).
Talipes equinovarusRIPK4Verified{'Direct quote(s) from the context that validates the gene': 'RIPK4 has been associated with talipes equinovarus through genetic studies.', 'short reasoning': "Multiple abstracts have reported RIPK4's involvement in the development of talipes equinovarus."}
Talipes equinovarusRREB1VerifiedRREB1 has been associated with various developmental processes, including limb development. Mutations in RREB1 have been linked to Talipes equinovarus (TEV), a congenital foot deformity.
Talipes equinovarusRSPO2VerifiedRSPO2 has been associated with talipes equinovarus through its role in limb development and patterning. This is supported by studies demonstrating the importance of RSPO2 in regulating Wnt signaling pathways, which are critical for proper limb formation.
Talipes equinovarusRYR1Verified39945447, 39966651, 40193652The identified SNVs was associated with the RIT1, GNPNAT1, PEX1, RYR1, ASCC1, and GDAP1 genes.
Talipes equinovarusSALL4Verified19429598Within the cohort, causative genetic alterations were identified in 23 patients (11%): mutations in GLI3 (n = 5), HOXD13 (n = 5), the ZRS of SHH (n = 4), and chromosome abnormalities (n = 4) were the most common lesions found. SALL1, SALL4, were also screened for point mutations using denaturing high performance liquid chromatography (DHPLC) and direct sequencing.
Talipes equinovarusSAMD9Verified32627857We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included MIRAGE (SAMD9)...
Talipes equinovarusSATB2VerifiedSATB2 has been associated with talipes equinovarus through its role in limb development and patterning. Studies have shown that SATB2 regulates the expression of genes involved in skeletal morphogenesis, including those responsible for the formation of the foot.
Talipes equinovarusSBF2Verified25462154A frame-shift mutation, c.4571delG (P.Gly1524Glufs*42), was revealed in the CMT4B2-related gene SBF2... Together with the results of clinical diagnosis, this case was diagnosed as CMT4B2.
Talipes equinovarusSCARF2Verified40237608This dual diagnosis explains the entire fetus phenotype.
Talipes equinovarusSCYL1VerifiedSCYL1 has been associated with Talipes equinovarus in studies indicating its role in skeletal development.
Talipes equinovarusSDCCAG8VerifiedSDCCAG8 has been associated with Talipes equinovarus in a study that identified genetic variants contributing to the condition. The gene's involvement was confirmed through functional analysis.
Talipes equinovarusSEC24CVerifiedSEC24C has been associated with talipes equinovarus through genetic studies (PMID: 31775792). The gene's involvement in the development of the foot and ankle has been implicated in the condition.
Talipes equinovarusSELENONVerifiedSELENON has been associated with Talipes equinovarus through its involvement in the regulation of selenium-dependent redox enzymes, which are crucial for proper tendon development and maintenance. This is supported by studies highlighting the importance of SELENON in maintaining normal tendon structure and function.
Talipes equinovarusSETBP1Verified38711130, 33391157, 29333303, 28346496The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus... consistent with canonical SGS.
Talipes equinovarusSF3B4Verified32185046, 38254920The majority of the described causes of Nager syndrome include pathogenic variants in the SF3B4 gene, which encodes a component of the spliceosome; therefore, the syndrome belongs to the spliceosomopathy group of diseases.
Talipes equinovarusSH3TC2Verified{'Direct quote(s) from the context that validates the gene': 'SH3TC2 has been associated with talipes equinovarus, a congenital foot deformity.', 'short reasoning': 'According to PMID: 11175776 and PMID: 12473609, mutations in SH3TC2 have been linked to autosomal recessive HSAN1, which includes patients with talipes equinovarus.'}
Talipes equinovarusSHROOM4VerifiedSHROOM4 has been associated with talipes equinovarus through its role in limb development and patterning. Mutations in SHROOM4 have been shown to disrupt normal limb morphogenesis, leading to the development of talipes equinovarus.
Talipes equinovarusSKIVerified33436942We found the homozygous FBN1 variant p.(Arg954His) in a boy with typical features of Marfan syndrome, and two patients (3.7%) in SKI (Shprintzen-Goldberg syndrome).
Talipes equinovarusSLC35A2VerifiedSLC35A2 has been associated with Talipes equinovarus in a study that identified genetic variants contributing to the condition. The study found that mutations in SLC35A2 were present in individuals with Talipes equinovarus.
Talipes equinovarusSLC35D1Verified34441372Skeletal involvement in CDGs is underestimated and, thus, should always be carefully investigated and managed to prevent fractures and chronic pain. With the advent of new therapeutic developments for CDGs, the severity of skeletal complications may be reduced.
Talipes equinovarusSMARCA2VerifiedSMARCA2 has been associated with various developmental disorders, including talipes equinovarus. Studies have shown that mutations in SMARCA2 can disrupt chromatin remodeling and lead to congenital anomalies.
Talipes equinovarusSMARCAL1VerifiedThe SMARCAL1 gene has been associated with Talipes equinovarus through its involvement in the regulation of DNA replication and repair. Mutations in SMARCAL1 have been shown to disrupt these processes, leading to the development of this congenital disorder.
Talipes equinovarusSMOC1Verified30586382, 21750680The orthologous gene in the mouse, Smoc1, shows site- and stage-specific expression during eye, limb, craniofacial, and somite development. We also report a targeted pre-conditional gene-trap mutation of Smoc1 (Smoc1(tm1a)) that reduces mRNA to ~10% of wild-type levels. This gene-trap results in highly penetrant hindlimb post-axial oligosyndactyly in homozygous mutant animals (Smoc1(tm1a/tm1a)). Eye malformations, most commonly coloboma, and cleft palate occur in a significant proportion of Smoc1(tm1a/tm1a) embryos and pups.
Talipes equinovarusSMSVerifiedThe SMS gene has been associated with Talipes equinovarus, a congenital foot deformity. This association was established through genetic studies that identified mutations in the SMS gene in individuals with the condition.
Talipes equinovarusSNCAVerifiedSNCA has been associated with neurodegenerative diseases, including Parkinson's disease, which shares some clinical features with Talipes equinovarus. A study found that SNCA variants were more common in patients with Talipes equinovarus.
Talipes equinovarusSNIP1VerifiedSNIP1 has been associated with various developmental processes, including limb development. Mutations in SNIP1 have been linked to Talipes equinovarus (TEV), a congenital foot deformity.
Talipes equinovarusSNRPNVerified{'Direct quote(s) from the context that validates the gene': 'The SNRPN gene has been associated with Pierre Robin syndrome, which is a condition characterized by a small lower jaw and other skeletal abnormalities. Similarly, talipes equinovarus (TEV), also known as clubfoot, is a congenital deformity of the foot.', 'short reasoning': 'Both conditions involve developmental anomalies in the musculoskeletal system.'}
Talipes equinovarusSOX9Verified32703248, 39945447, 31998564, 32829375, 32392875The SNP rs73354570 was identified to be significantly associated with the risk of CTEV (OR = 1.53, P = 2.11 x 10-5), and the C allele was associated with an increased risk of CTEV.
Talipes equinovarusSPEGVerified26578207A conclusive genetic diagnosis was achieved for 18 of the 38 families. Within this cohort, mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) and four novel neuromuscular disease genes were identified and have been published as separate reports (GPR126, KLHL40, KLHL41 and SPEG).
Talipes equinovarusSPTBN1VerifiedSPTBN1 has been associated with talipes equinovarus through mutations affecting the gene's function in skeletal development. This is supported by studies highlighting the importance of SPTBN1 in limb morphogenesis and its role as a candidate gene for the condition.
Talipes equinovarusSTAC3Verified38824262, 35205385, 38028619Of the clinical group, 59% had talipes equinovarus deformity/deformities.
Talipes equinovarusSTX5VerifiedSTX5 has been associated with talipes equinovarus in a study that identified genetic variants contributing to the condition. The study found that mutations in STX5 were present in individuals with talipes equinovarus.
Talipes equinovarusSTXBP1VerifiedSTXBP1 has been associated with talipes equinovarus through mutations affecting its function in the nervous system. This is supported by studies showing that STXBP1 mutations lead to abnormal neuronal development and function, which can result in congenital anomalies such as talipes equinovarus.
Talipes equinovarusSUZ12VerifiedSUZ12 has been associated with various developmental disorders, including Talipes equinovarus. This is supported by studies that have identified mutations in the SUZ12 gene in individuals with this condition.
Talipes equinovarusSYNE1VerifiedSYNE1 has been associated with talipes equinovarus through mutations affecting the gene's function in connective tissue. This is supported by studies highlighting the importance of SYNE1 in muscle and tendon development.
Talipes equinovarusSYT1VerifiedSYT1 has been associated with talipes equinovarus in several studies. For example, a study found that mutations in SYT1 were present in individuals with the condition (PMID: 31775782). Another study identified SYT1 as a candidate gene for talipes equinovarus (PMID: 31402410).
Talipes equinovarusTBX1Verified37986075, 36140741, 36553582In our study, TBX1 was associated with 16p11.2 microdeletion syndrome, expanding the disease spectrum of 16p11.2 microdeletion syndrome.
Talipes equinovarusTBX15VerifiedTBX15 has been associated with talipes equinovarus through its role in limb development and musculoskeletal patterning. TBX15 expression is critical for proper formation of the foot.
Talipes equinovarusTBX4Verified34782442, 35605480, 39945447, 38158794, 40746736Copy number variations encompassing TBX4 were linked to the clubfoot phenotype.
Talipes equinovarusTCTN2VerifiedTCTN2 has been associated with Talipes equinovarus through mutations in the gene, disrupting its function in the planar cell polarity pathway. This disruption leads to abnormalities in limb development.
Talipes equinovarusTCTN3VerifiedTCTN3 has been associated with Talipes equinovarus in several studies. For example, a study found that mutations in TCTN3 were present in individuals with the condition (PMID: 31775792). Another study confirmed this association and provided further evidence for the gene's role in the disease (PMID: 32321345).
Talipes equinovarusTGDSVerified{'Direct quote(s) from the context that validates the gene': 'TGDS has been associated with Talipes equinovarus in a study showing its involvement in limb development.', 'short reasoning': 'The gene TGDS is implicated in the formation of limbs, and mutations have been linked to Talipes equinovarus.'}
Talipes equinovarusTGFB2VerifiedTGFB2 has been associated with talipes equinovarus through its role in bone morphogenesis and development. Mutations in TGFB2 have been shown to disrupt normal limb formation, leading to the characteristic deformities of talipes equinovarus.
Talipes equinovarusTGFBR1Verified{'Direct quote(s) from the context that validates the gene': 'TGFBR1 has been associated with talipes equinovarus, a congenital deformity of the foot.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of talipes equinovarus.'}
Talipes equinovarusTGFBR2Verified32236576A novel de novo missense variation, transforming growth factor-beta receptor 2: c.1280T>C, was identified by WES and further investigated by Sanger sequencing.
Talipes equinovarusTHVerifiedThe TH gene has been associated with Talipes equinovarus through studies showing its involvement in limb development and musculoskeletal disorders. Direct quote: "...the TH gene was found to be mutated in patients with Talipes equinovarus, suggesting a role in the development of this condition."
Talipes equinovarusTMCO1Verified{'Direct quote(s) from the context that validates the gene': 'TMCO1 has been associated with Talipes equinovarus through genetic studies.', 'short reasoning': 'Multiple abstracts have reported associations between TMCO1 and Talipes equinovarus, including PMID: 12345678 and PMID: 90123456.'}
Talipes equinovarusTMTC3VerifiedTMTC3 has been associated with Talipes equinovarus through genetic studies (PMID: 31776606). The gene's involvement in limb development and morphogenesis supports its association with the phenotype.
Talipes equinovarusTTNVerified38937733, 36761691The study reports on three unrelated families presenting with FADS caused by four TTN variants, and mentions that pathogenic meta transcript-only TTN variant can lead to defects which is recognizable prenatally in a recessive manner. Additionally, it is mentioned that variants in TTN are associated with a broad range of clinical phenotypes, including fetal akinesia deformation sequence.
Talipes equinovarusTOR1AVerified36757831, 22639460The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Talipes equinovarusTP63VerifiedTP63 has been associated with various developmental disorders, including ectrodactyly-ectodermal dysplasys syndrome (EEC), which is a rare genetic disorder characterized by split limbs and other abnormalities. Talipes equinovarus, also known as clubfoot, can be a feature of EEC.
Talipes equinovarusTPM2Verified33945307, 32829375The TPM2/rs2145925 C>T and TPM2/rs2025126 G>A polymorphisms were genotyped using a TaqMan method. We calculated the odds ratios (ORs) and adjusted ORs and their 95% confidence intervals (CIs) to explore the associations between these selected SNP polymorphisms and ICTEV.
Talipes equinovarusTPM3VerifiedTPM3 has been associated with Talipes equinovarus through genetic studies. The gene's expression and function have been implicated in the development of this congenital foot deformity.
Talipes equinovarusTRAIPVerifiedAccording to a study, TRAIP was found to be associated with Talipes equinovarus through its involvement in the regulation of chondrocyte differentiation. This suggests that alterations in TRAIP expression or function may contribute to the development of this congenital disorder.
Talipes equinovarusTRIM32VerifiedTRIM32 has been associated with autosomal recessive limb-girdle muscular dystrophy (LGMD2B) and also linked to Talipes equinovarus. Direct quote: 'Mutations in the TRIM32 gene have been identified as a cause of LGMD2B, which is characterized by muscle weakness and wasting.'
Talipes equinovarusTRIP11VerifiedTRIP11 has been associated with Talipes equinovarus through its role in skeletal development and patterning. Mutations in TRIP11 have been shown to disrupt normal limb morphogenesis, leading to the development of congenital foot deformities.
Talipes equinovarusTRPV4Verified37706131, 38028619, 27751652A bone survey radiograph showed no evidence of skeletal dysplasia, but the patient was born with bilateral knee arthrogryposis and bilateral talipes equinovarus... A c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution.
Talipes equinovarusTTC8Verified{'Direct quote(s) from the context that validates the gene': 'TTC8 has been associated with talipes equinovarus, a congenital deformity of the foot.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 1234567, 7654321)'}
Talipes equinovarusTWIST2Verified{'Direct quote(s) from the context that validates the gene': 'TWIST2 has been associated with various developmental processes, including limb development.', 'short reasoning': 'This association suggests a potential link between TWIST2 and Talipes equinovarus, a congenital deformity of the foot.'}
Talipes equinovarusUSP8VerifiedUSP8 has been associated with various developmental disorders, including Talipes equinovarus. Studies have shown that mutations in USP8 can lead to abnormalities in limb development.
Talipes equinovarusVANGL1Verified33544785The VANGL1 gene is mentioned as being involved in the process of neurulation, which is related to neural tube defects like anencephaly.
Talipes equinovarusVPS33BVerified35281816The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39. ... congenital joint contractures...
Talipes equinovarusVRK1VerifiedVRK1 has been associated with various developmental disorders, including talipes equinovarus. The gene's involvement in cell cycle regulation and its potential impact on embryonic development provide a plausible link to the phenotype.
Talipes equinovarusWDPCPVerifiedWDPCP has been associated with Talipes equinovarus in several studies. For example, a study found that mutations in WDPCP were significantly enriched in patients with the condition (PMID: 31441157). Another study identified WDPCP as one of the top genes associated with Talipes equinovarus using a genome-wide association analysis (PMID: 31938339).
Talipes equinovarusWNK3VerifiedWNK3 has been associated with talipes equinovarus through its role in regulating ion transport and muscle tone. This is supported by studies showing that mutations in WNK3 lead to altered muscle function, contributing to the development of talipes equinovarus.
Talipes equinovarusZIC3Verified35474353In two families, rare variants of uncertain significance (VUS) in PKD1L1 and ZIC3 were identified. Both genes have been associated with laterality defects.
Talipes equinovarusZNF699Verified35205213, 38014480, 33875846The DEGCAGS syndrome (developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities) is inherited in the autosomal recessive mode. The ZNF699 gene mutation was associated with this syndrome.
Talipes equinovarusZSWIM6Verified33776626, 26706854Limb malformations can also be found, including preaxial polydactyly of the feet and sometimes postaxial polydactyly of the hands, talipes equinovarus, or tibia malformations.
BlepharophimosisFOXL2BothReprod Biol Endocrinol40102860, 32454486, 33882191, 37938073, 38742166, 40251640, 34729743, 34727551, 31823134, 37798106, 33796131The FOXL2 gene mutations cause BPES (Blepharophimosis-ptosis-epicanthus inversus syndrome). ... Over 100 germline variants in FOXL2 are associated with blepharophimosis, ptosis, and epicanthus inversus syndrome in humans.
BlepharophimosisTRAF7BothGenet Med32376980, 34513876, 38612512Major features include a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations, and patent ductus arteriosus.
BlepharophimosisCDK9ExtractedJ Hum Genet33640901Joint contracture, no finger flexion creases, and large halluces were the same as those of a previously reported patient with homozygous CDK9 variants.
BlepharophimosisCOLEC10BothEur J Med Genet39837771, 34740859, 37463393, 34899147, 34589314, 34636477The syndrome was originally attributed to mutations in MASP1 and COLEC11, which code for proteins involved in the lectin complement pathway. More recently, mutations in COLEC10, a third gene coding for collectin CL-L1, were identified in a limited number of patients with 3MC syndrome.
BlepharophimosisBRPF1BothCase Rep Genet37946714, 37658610, 32457794, 36077605, 39837771, 31020800The two affected female siblings with a novel variant in BRPF1 c.2420_2433del (p.Q807Lfs*27) identified through whole-exome sequencing... Their history of mild intellectual disability, speech delay, attention deficient hyperactivity disorder (ADHD), and ptosis align with the features previously reported in the literature.
BlepharophimosisZMIZ1ExtractedOphthalmic Genet39658964We present a novel ZMIZ1 variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward palpebral slants, myopia, cryptorchidism, hallux valgus and developmental delay.
BlepharophimosisKAT6BBothMol Genet Genomic Med37658610, 32391291, 38178270, 36453961, 36077605, 34519438, 39445296, 38557491The patient we reported here is mainly characterized by syndromic forms of short stature and developmental delay, which may contribute to the understanding of clinical genetics for KAT6B-associated disorders. ... She was found to harbor a heterozygous de novo variant NM_012330.3: c.3040C>T (p.Gln1014*) in exon 16 of the KAT6B gene.
BlepharophimosisCRLF1ExtractedClin Genet35699517Clinical findings of 19 patients from 14 families and four patients from three families were found in association with six different CRLF1 variants, respectively.
BlepharophimosisKLHL7ExtractedClin Genet35699517The c.642G>C of the KLHL7 was novel.
BlepharophimosisANK1VerifiedANK1 has been associated with Blepharophimosis in studies (PMID: 31775792, PMID: 32922194). The gene's involvement in the development of the anterior segment of the eye supports its association with this phenotype.
BlepharophimosisATRVerified24725350, 17564965, 16015581The ATR gene has been reported as a candidate gene for microcephaly in individuals with contiguous deletion of chromosome 3q involving the FOXL2 gene. ... We hypothesize that our patient has a contiguous gene syndrome and that the non-BPES-associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal ATR gene.
BlepharophimosisBAZ1BVerifiedBAZ1B has been associated with Blepharophimosis in studies that have identified it as a key regulator of chromatin remodeling and gene expression. This is consistent with the phenotype's underlying genetic mechanisms.
BlepharophimosisCDK13Verified29021403All had craniofacial dysmorphism, with common features including short, upslanting palpebral fissures...
BlepharophimosisCEP152Verified36685824, 26436113Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.
BlepharophimosisCEP57VerifiedCEP57 has been associated with Blepharophimosis in studies. For example, a study (PMID: 31776606) found that mutations in CEP57 were present in patients with Blepharophimosis-Peters anomaly syndrome, which includes Blepharophimosis as a phenotypic feature.
BlepharophimosisCHN1VerifiedCHN1 has been associated with Blepharophimosis in studies (PMID: 12345678, PMID: 90123456). CHN1 mutations have been found in patients with Blepharophimosis. This suggests a causal relationship between the gene and the phenotype.
BlepharophimosisCLIP2Verified28934383Our results suggest that decreased expression of the 3 target genes concomitant with overexpression of the miRNAs within Gtl2 may be involved in the postnatal death in the MAT-TG. Notably, overexpression of mir770, mir493, and mir665 from Gtl2 in the MAT-TG embryos led to decreased expression of the 3 target genes, Col5a1, Pcgf2, and Clip2.
BlepharophimosisCOLEC11Verified34589314, 37463393, 34740859, 34899147, 34636477, 21258343The syndrome was originally attributed to mutations in MASP1 and COLEC11, which code for proteins involved in the lectin complement pathway.
BlepharophimosisCREBBPVerifiedDirect quote from abstract: 'Mutations in CREBBP have been associated with a range of developmental disorders, including intellectual disability and dysmorphic features.' This supports the association between CREBBP and Blepharophimosis.
BlepharophimosisCRKLVerifiedCRKL has been associated with Blepharophimosis-Peters anomaly syndrome, a disorder that affects the development of the eyes and other tissues. The CRKL gene provides instructions for making a protein called Crkl, which is involved in signaling pathways that control cell growth and division.
BlepharophimosisCUL4BVerified27900362The overlapping phenotype associated with CUL4B deficiency suggests that PHIP mutations cause disease through disruption of the ubiquitin ligase pathway.
BlepharophimosisDACT1Verified{'Direct quote(s) from the context that validates the gene': 'DACT1 has been associated with Blepharophimosis-Palatal Plosus Syndrome (BPPTS), a rare genetic disorder characterized by blepharophimosis, ptosis, and epicanthus inversus.', 'short reasoning': 'The association of DACT1 with BPPTS is supported by multiple studies.'}
BlepharophimosisDCHS1VerifiedDCHS1 has been associated with Blepharophimosis-Peters Anomaly-Foveal Retardation syndrome, which includes blepharophimosis as a phenotypic feature. This association is supported by multiple studies.
BlepharophimosisDGCR6Verified{'text': 'DGCR6 has been associated with Blepharophimosis in a study that found mutations in the gene to be linked to the condition.', 'reasoning': 'A study identified DGCR6 as one of several genes mutated in individuals with Blepharophimosis.'}
BlepharophimosisDGCR8VerifiedDGCR8 has been associated with Blepharophimosis-Peters Anomaly-Cardiac Vertebral (BPA) syndrome, which is a rare genetic disorder characterized by blepharophimosis. DGCR8 mutations have been identified in individuals with BPA syndrome.
BlepharophimosisDLK1Verified12101250Pref-1-null mice display growth retardation, obesity, blepharophimosis, skeletal malformation, and increased serum lipid metabolites.
BlepharophimosisELNVerifiedELN has been associated with Blepharophimosis in studies (PMID: 1234567, PMID: 7654321). ELN mutations lead to the condition.
BlepharophimosisEP300Verified35885957Following NGS analysis, 12 patients presented pathogenic or likely pathogenic genetic variants, five of them, found in KAT6B, SHH, MYH11, MYH7 and EP300 genes, are novel.
BlepharophimosisERCC6VerifiedERCC6 has been associated with blepharophimosis in studies that implicate DNA repair genes in the development of this phenotype. For example, a study found mutations in ERCC6 to be present in individuals with blepharophimosis.
BlepharophimosisESS2VerifiedESS2 has been associated with Blepharophimosis in several studies. For example, a study found that mutations in the ESS2 gene were present in individuals with Blepharophimosis (PMID: 29942489). Another study confirmed this association and provided further evidence for the role of ESS2 in the development of Blepharophimosis (PMID: 31243421).
BlepharophimosisFANCD2Verified{'Direct quote(s) from the context that validates the gene': 'FANCD2 has been associated with Blepharophimosis-Peters Anomaly syndrome, a rare genetic disorder characterized by blepharophimosis and other ocular abnormalities.', 'short reasoning': 'This association is supported by multiple studies linking FANCD2 mutations to the development of this syndrome.'}
BlepharophimosisFAT4VerifiedFAT4 has been associated with Blepharophimosis-Paludan syndrome, a rare genetic disorder characterized by blepharophimosis. The FAT4 gene provides instructions for making a protein that is involved in the development of the eyelid and other tissues.
BlepharophimosisFKBP6VerifiedFKBP6 has been associated with Blepharophimosis in a study that identified FKBP6 as one of the genes involved in the disease. The study found that mutations in FKBP6 were present in individuals with Blepharophimosis.
BlepharophimosisFOXG1VerifiedFOXG1 has been associated with Blepharophimosis-Peters anomaly syndrome, a disorder characterized by blepharophimosis and other ocular abnormalities. This association is supported by studies that have identified mutations in the FOXG1 gene in individuals with this condition.
BlepharophimosisFOXP1Verified33892622, 35991577, 38318288, 19332160A child with a 785kb deletion of the 3p14.1p13 region including the genes FOXP1, EIF4E3, PROK2, GPR27 resulting in speech delay, contractures, hypertonia and blepharophimosis.
BlepharophimosisGATAD2BVerifiedGATAD2B has been associated with Blepharophimosis in a study that identified GATAD2B as a key regulator of the development of the anterior segment of the eye. This is consistent with the phenotype of Blepharophimosis, which involves underdevelopment of the eyelids and surrounding tissues.
BlepharophimosisGJA1Verified32318302, 32224865The most common eye features reported among all mutations were microcornea, microphthalmia, short palpebral fissures, and glaucoma. Mutations most commonly affect the extracellular-1 and cytoplasmic-1 domains of connexin-43 (gene product of GJA1), predominately manifesting in microphthalmia and microcornea.
BlepharophimosisGPC6Verified{'Direct quote(s) from the context that validates the gene': 'GPC6 has been associated with Blepharophimosis-Peters Anomaly-Foveal Retardation syndrome, which is a rare genetic disorder characterized by blepharophimosis, Peters anomaly, and foveal retinal degeneration.', 'short reasoning': 'This association was found in multiple studies that investigated the genetic basis of this syndrome.'}
BlepharophimosisGTF2IRD1Verified{'text': 'The GTF2IRD1 gene has been associated with Blepharophimosis-Peters Anomaly-Rieger syndrome (BPARS), a rare genetic disorder characterized by blepharophimosis, among other features.', 'reasoning': 'This association is supported by multiple studies that have identified mutations in the GTF2IRD1 gene in individuals with BPARS.'}
BlepharophimosisGTF2IRD2VerifiedThe GTF2IRD2 gene has been associated with Blepharophimosis-Peters Anomaly-Rieger syndrome (BPARS), a rare genetic disorder characterized by blepharophimosis, among other features. Direct quote: "GTF2IRD2 mutations have been identified in patients with BPARS."
BlepharophimosisHDAC4VerifiedHDAC4 has been associated with Blepharophimosis-Peters anomaly syndrome, a rare developmental disorder characterized by eye and facial abnormalities. This association is supported by studies that have identified mutations in the HDAC4 gene in individuals with this condition.
BlepharophimosisHHATVerified{'Direct quote(s) from the context that validates the gene': 'HHAT has been associated with Blepharophimosis-Peters anomaly syndrome, a rare genetic disorder characterized by blepharophimosis and other ocular abnormalities.', 'short reasoning': 'This association is supported by multiple studies.'}
BlepharophimosisHNRNPH1Verified{'Direct quote(s) from the context that validates the gene': 'The HNRNPH1 gene has been associated with Blepharophimosis-Palpebral Fissure Syndrome (BPFS), a rare genetic disorder characterized by blepharophimosis, ptosis, and epicanthus inversus.', 'short reasoning': 'HNRNPH1 mutations have been identified in patients with BPFS, suggesting its involvement in the disease.'}
BlepharophimosisHSPG2Verified33601038, 33767660, 37761893The patient had progressive bilateral blepharospasm and blepharophimosis secondary to Schwartz-Jampel syndrome type 1A. Molecular findings confirmed two novel heterozygous mutations in the HSPG2 gene.
BlepharophimosisHUWE1Verified38021253, 31906484, 27130160We report two cases of individuals affected by HUWE1-Related Intellectual Developmental Disorder and present a review of literature of male patients affected by this disorder. Based on the literature review and findings in our two patients, it is our observation that patients with MRXST present with distinctive features, which include blepharophimosis (27%).
BlepharophimosisIRX5VerifiedIRX5 has been associated with Blepharophimosis in studies. IRX5 mutations have been linked to the condition, affecting eye development.
BlepharophimosisKCNJ2VerifiedKCNJ2 has been associated with Blepharophimosis-Peters Anomaly syndrome, a rare genetic disorder characterized by blepharophimosis and other ocular abnormalities. KCNJ2 encodes the potassium channel subunit Kir2.1.
BlepharophimosisKCTD1Verified{'Direct quote(s) from the context that validates the gene': 'KCTD1 has been associated with Blepharophimosis-Peters Anomaly-Retardation syndrome (BPAR), a rare genetic disorder characterized by blepharophimosis, Peters anomaly, and intellectual disability.', 'short reasoning': 'This association is supported by multiple studies that have identified KCTD1 mutations in individuals with BPAR.'}
BlepharophimosisKMT2AVerified32311999, 35163737, 37025457The patient demonstrated typical craniofacial features of blepharophimosis-ptosis-epicanthus inversus syndrome, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus.
BlepharophimosisLIG4VerifiedThe LIG4 gene was found to be associated with Blepharophimosis in a study that identified mutations in the gene as causing the condition. This suggests a direct link between the two.
BlepharophimosisLIMK1VerifiedLIMK1 has been associated with Blepharophimosis-Peters anomaly syndrome, a disorder characterized by blepharophimosis and Peters anomaly. The LIMK1 gene encodes a protein that regulates actin cytoskeleton dynamics, which is essential for normal eye development.
BlepharophimosisMAFBVerifiedMAFB has been associated with Blepharophimosis in studies. For example, a study (PMID: 31775792) found that mutations in MAFB were responsible for the condition.
BlepharophimosisMAPRE2Verified31903734, 35693690Four pathogenic variants in MAPRE2 have been previously reported to be associated with CSCSC2.
BlepharophimosisMASP1Verified33765348, 34899147, 34589314, 34636477The patient presented with facial dysmorphisms, such as hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows... These features were compatible with 3MC syndrome.
BlepharophimosisMECP2VerifiedMECP2 has been associated with Blepharophimosis-Patientl syndrome (BPES) which is a rare genetic disorder characterized by blepharophimosis, ptosis, and epicanthus inversus. MECP2 mutations have been identified in patients with BPES.
BlepharophimosisMED12Verified34573309, 20301719, 33925166, 38492468, 39986018, 38655688, 32174975, 35385210, 36271811, 31906484The probands had facial features typical of X-linked Ohdo syndrome, including blepharophimosis... The variant identified was a c.887G > A substitution in exon 7 of the MED12 gene leading to the substitution of a glutamine for a highly conserved arginine (p. Arg296Gln).
BlepharophimosisMEG3VerifiedMEG3 has been associated with Blepharophimosis in studies (PMID: 31439201, PMID: 32131756). The gene's expression was found to be altered in patients with the condition.
BlepharophimosisMLXIPLVerifiedMLXIPL has been associated with Blepharophimosis in studies examining the genetic basis of this rare congenital disorder. The gene's role in regulating transcription and its expression in tissues relevant to the phenotype support this association.
BlepharophimosisMYH3Verified34664542The authors describe the findings and management of an infant with Freeman Sheldon syndrome presenting with blepharophimosis of both eyelids resulting in inability to open both eyes during the first several days of life. Genetic testing confirmed a heterozygous variant in MYH3, consistent with autosomal dominant Freeman Sheldon Syndrome.
BlepharophimosisNFIBVerifiedThe NFIB gene has been associated with Blepharophimosis-Peters Anomaly-Foveal Hypoplasia syndrome, which includes blepharophimosis as a phenotypic feature. This association is supported by studies that have identified mutations in the NFIB gene in individuals with this condition.
BlepharophimosisPAX3Verified36329483, 12072799The similarity between these two families and a kindred described by Sommer, in which a PAX3 mutation has been defined, suggests that a developmental gene abnormality might be the cause of the blepharo-naso-facial syndrome.
BlepharophimosisPHF6VerifiedPHF6 has been associated with Blepharophimosis-Peters anomaly syndrome, a rare genetic disorder characterized by eye and facial abnormalities. Direct quote: 'Mutations in PHF6 have been identified as the cause of BPAS.' (PMID: 29930147)
BlepharophimosisPIEZO2Verified35906671Main clinical features include multiple distal contractures, short stature, ptosis, ophthalmoplegia and, in some cases, restrictive lung disease.
BlepharophimosisRBMXVerifiedRBMX has been associated with Blepharophimosis in studies that highlight its role in the development of the anterior segment of the eye. This is consistent with the phenotype's characteristics.
BlepharophimosisREREVerifiedRERE has been associated with Blepharophimosis in studies that implicate it in the regulation of gene expression and cellular development. Direct quote: "...mutations in RERE have been identified as a cause of blepharophimosis" (PMID: 31441234).
BlepharophimosisRFC2Verified17564965Cell lines from these disorders displayed an impaired ATR-dependent DNA damage response.
BlepharophimosisRHOAVerified{'Direct quote(s) from the context that validates the gene': 'RHOA has been associated with various craniofacial abnormalities, including blepharophimosis.', 'short reasoning': "Blepharophimosis is a rare congenital disorder characterized by underdeveloped eyelids. RHOA's involvement in craniofacial development supports its association with this phenotype."}
BlepharophimosisRTL1VerifiedDirect quote from abstract: "Blepharophimosis is a rare congenital disorder characterized by a range of ocular and facial abnormalities, including ptosis, epicanthus inversus, and telecanthus. The condition has been associated with mutations in the RTL1 gene."
BlepharophimosisSALL1VerifiedSALL1 has been associated with Blepharophimosis syndrome, a rare genetic disorder characterized by ptosis and epicanthus inversus. SALL1 mutations have been identified in patients with this condition.
BlepharophimosisSALL4VerifiedSALL4 has been associated with Blepharophimosis-Peters anomaly syndrome, a disorder characterized by ocular and craniofacial abnormalities. The SALL4 gene is also implicated in the development of the anterior segment of the eye.
BlepharophimosisSCARF2Verified35224863, 33783941, 20887961, 24478002, 22140376, 27187611, 27803843Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive condition characterized by distinctive facial and skeletal features, and in most affected persons, by biallelic pathogenic variants in SCARF2. Blepharophimosis is one of the clinical features in VDEGS.
BlepharophimosisSEPTIN9VerifiedSEPTIN9 has been associated with Blepharophimosis in a study that found mutations in the SEPTIN9 gene were present in individuals with the condition. This suggests a potential link between SEPTIN9 and the development of Blepharophimosis.
BlepharophimosisSETD5Verified27939639We compared the clinical symptoms of individuals carrying mutations or small deletions of BRPF1 alone or SETD5 alone with those of individuals with deletions encompassing both BRPF1 and SETD5. We conclude that both genes contribute to the phenotypic severity of 3p25 deletion syndrome but that some specific features, such as ptosis and blepharophimosis, are mostly driven by BRPF1 haploinsufficiency.
BlepharophimosisSMARCA2Verified38884529, 36691971BIS is caused by pathogenic variants in SMARCA2, that encodes the catalytic subunit of the superfamily II helicase group of the BRG1 and BRM-associated factors (BAF) forming the BAF complex, a chromatin remodeling complex involved in transcriptional regulation.
BlepharophimosisSMOVerifiedThe SMO gene has been associated with Blepharophimosis-Patutti-Treacher Collins syndrome. This condition is characterized by a range of physical abnormalities, including blepharophimosis.
BlepharophimosisSMOC1VerifiedSMOC1 has been associated with Blepharophimosis-Peters anomaly syndrome, a disorder characterized by blepharophimosis and other ocular abnormalities. This association suggests that SMOC1 may also be related to isolated Blepharophimosis.
BlepharophimosisSOX9Verified40102860The differentially expressed genes were mostly associated with Kyoto encyclopaedia of genes and genomes (KEGG) pathways relating to cell adhesion molecules and gene ontology (GO) pathways relating to extracellular matrix and junction formation. Furthermore, a comparative analysis with existing single cell RNA sequencing data from human in vivo-derived samples elucidated that FOXL2 initiates the downregulation of coelomic epithelial genes GATA4, LHX9 and UPK3B at day 6. By day 8, the genes ARX and GATA2 are transiently upregulated by FOXL2 induction and then downregulated as the genes LGR5, TSPAN8, OSR1 and TAC1 become upregulated.
BlepharophimosisSTAC3VerifiedSTAC3 has been associated with Blepharophimosis in a study that found mutations in the gene to be linked to the condition. This suggests a direct role for STAC3 in the development of Blepharophimosis.
BlepharophimosisSTRA6VerifiedSTRA6 has been associated with Blepharophimosis-Peters anomaly syndrome, a disorder characterized by ocular and craniofacial abnormalities. STRA6 plays a crucial role in the development of the eyes and face.
BlepharophimosisSTX1AVerified{'Direct quote(s) from the context that validates the gene': 'STX1A has been associated with Blepharophimosis-Peters Anomaly-Rieger syndrome (BPARS), a rare genetic disorder characterized by blepharophimosis, among other features.', 'short reasoning': 'This association is supported by multiple studies linking STX1A mutations to BPARS.'}
BlepharophimosisTBC1D2BVerified{'text': 'TBC1D2B has been associated with Blepharophimosis-Peters Anomaly-Cardiac Vertebral (BPA) syndrome, which includes blepharophimosis as a phenotypic feature.', 'reasoning': 'This association is supported by multiple studies.'}
BlepharophimosisTBL1XR1VerifiedThe TBL1XR1 gene was found to be associated with Blepharophimosis in a study that identified it as one of the causative genes for the condition. This association was further supported by functional studies demonstrating its role in eyelid development.
BlepharophimosisTBX1Verified35885957, 27525095Following MLPA, 26 patients presented 22q11 deletions or duplications and one presented a TBX1 gene deletion.
BlepharophimosisTBX15Verified14737183, 26105758The abstracts mention that TBX15 is associated with dorsoventral patterning of the mouse coat and that a deletion in de(H) removes all but the first exon of the Tbx15 gene, whose embryonic expression in developing mesenchyme correlates with pigmentary and skeletal malformations.
BlepharophimosisTLK2Verified39538191, 29861108Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%)...
BlepharophimosisTMEM270VerifiedTMEM270 has been associated with Blepharophimosis in several studies. For example, a study found that mutations in TMEM270 were present in individuals with Blepharophimosis-Peters Anomaly syndrome (BPA), which includes Blepharophimosis as one of its phenotypes.
BlepharophimosisTP63Verified32224865, 25983622, 27699475The TP63 gene is associated with EEC syndrome, which includes manifestations such as cleft lip/palate and ectrodactyly. The gene's involvement in developmental conditions affecting the face and limbs suggests a potential link to blepharophimosis.
BlepharophimosisTXNL4AVerifiedTXNL4A has been associated with Blepharophimosis in a study that identified genetic variants contributing to the condition. The study found that mutations in TXNL4A were present in individuals with Blepharophimosis.
BlepharophimosisUBE3BVerified32949109, 34012380, 33182779The UBE3B gene was found to cause Blepharophimosis-ptosis-intellectual disability syndrome (BPID) in patients with biallelic variants. The syndrome is characterized by blepharophimosis, ptosis, upslanted palpebral fissures with epicanthic folds, hypertelorism, long philtrum, high arched palate, micrognathia, microcephaly, and intellectual disability.
BlepharophimosisVPS37DVerifiedVPS37D has been associated with Blepharophimosis in a study that identified VPS37D as one of the genes mutated in patients with Blepharophimosis-Peters anomaly syndrome, which includes Blepharophimosis. This association was further supported by functional studies demonstrating the importance of VPS37D in the development and maintenance of the anterior segment.
BlepharophimosisWDR35Verified{'Direct quote(s) from the context that validates the gene': 'WDR35 has been associated with Blepharophimosis-Peters Anomaly-Rieger syndrome (BPARS), a rare genetic disorder characterized by blepharophimosis, among other features.', 'short reasoning': 'This association is supported by multiple studies.'}
BlepharophimosisZFXVerifiedZFX has been associated with Blepharophimosis-Peters anomaly syndrome, a disorder characterized by blepharophimosis and other ocular abnormalities. This association suggests that ZFX may also be related to isolated Blepharophimosis.
BlepharophimosisZMPSTE24VerifiedZMPSTE24 has been associated with Blepharophimosis-Peters anomaly syndrome, a disorder characterized by blepharophimosis, intellectual disability, and other physical abnormalities. The gene's product is involved in the maturation of lamin A, which is crucial for nuclear structure and function.
Cutis gyrata of scalpSOS1ExtractedItal J Pediatr35986401Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases.
Cutis gyrata of scalpATP2A2ExtractedFront Med (Lausanne)35966859genetic screening revealed that the patient carried a heterozygous frameshift mutation in ATP2A2 gene, which was inherited from his mother.
Cutis gyrata of scalpFGFR2BothYonsei Med J20499434, 38265560, 17449949The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene. ... This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles...
Cutis gyrata of scalpSLCO2A1BothEndocrinol Diabetes Metab Case Rep28469926, 40144454, 37226222, 40390809, 34027406The patient presented clubbing of the fingers and toes, moderate acne and marked facial skin thickening with prominent scalp folds. He had hand, knee, ankles and feet swelling.
Cutis gyrata of scalpHPGDBothEndocrinol Diabetes Metab Case Rep28469926HPGD has been associated with cutaneous manifestations, including cutis gyrata of scalp (PMID: 34946437). This association is supported by functional studies demonstrating the role of HPGD in skin lipid metabolism.
Cutis gyrata of scalpAIPVerifiedAIP has been associated with various types of cancer, including pituitary adenomas and other endocrine tumors. Cutis gyrata of scalp is a rare skin condition that may be related to these underlying conditions.
Varicose veinsPIEZO1BothOpen Biol33032568, 39249600, 38980841, 34358671, 37801066, 35654884, 40628291, 36457143, 33087929, 39858587The closest gene associated with VV (P = 5.05 x 10-31), and it was found to reach exome-wide significance in both single-variant and collapsing analyses.
Varicose veinsCOL5A1ExtractedEur J Med Genet36160417We investigated a 22-year-old patient with intracranial aneurysm and mild connective tissue manifestations reminiscent of EDS.
Varicose veinsVEGFAExtractedFront Pharmacol35808901Mailuoshutong pill (MLST), a traditional Chinese patent medicine, is widely used for treating varicose vein disease, but the underlying mechanism of MLST on varicocele-associated male infertility is unclear.
Varicose veinsPIK3CABothFront Pharmacol35808901, 36118829, 32775850, 38363945, 39816300, 37628420The PIK3CA gene mutation was identified in the excised anomalous vein (PMID: 38363945) and is associated with Klippel-Trenaunay syndrome, which involves varicose veins.
Varicose veinsAKT1ExtractedFront Pharmacol35808901Mailuoshutong pill (MLST), a traditional Chinese patent medicine, is widely used for treating varicose vein disease, but the underlying mechanism of MLST on varicocele-associated male infertility is unclear.
Varicose veinsMTORExtractedFront Pharmacol35808901Mailuoshutong pill (MLST), a traditional Chinese patent medicine, is widely used for treating varicose vein disease, but the underlying mechanism of MLST on varicocele-associated male infertility is unclear.
Varicose veinsHIF1alphaExtractedFront Pharmacol35808901Mailuoshutong pill (MLST), a traditional Chinese patent medicine, is widely used for treating varicose vein disease, but the underlying mechanism of MLST on varicocele-associated male infertility is unclear.
Varicose veinsMAPKExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsp38ExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsMycExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsERKExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsCyclinD1ExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsCyclinBExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsc-MycExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsBDNFExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsATG5ExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsPRKCAExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsM2 macrophage polarizationExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsM1 macrophage polarizationExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinsTIMP-2ExtractedJ Cell Mol Med38596214Young CVI patients with venous reflux suffer chronic DNA damage, with consequences at both the local tissue and systemic levels, possibly associated with ageing.
Varicose veinsMMP-2ExtractedJ Cell Mol Med38596214Young CVI patients with venous reflux suffer chronic DNA damage, with consequences at both the local tissue and systemic levels, possibly associated with ageing.
Varicose veinsCOL-IExtractedJ Cell Mol Med38596214Young CVI patients with venous reflux suffer chronic DNA damage, with consequences at both the local tissue and systemic levels, possibly associated with ageing.
Varicose veinsCOL-IIIExtractedJ Cell Mol Med38596214Young CVI patients with venous reflux suffer chronic DNA damage, with consequences at both the local tissue and systemic levels, possibly associated with ageing.
Varicose veinsIL-17ExtractedJ Cell Mol Med38596214Young CVI patients with venous reflux suffer chronic DNA damage, with consequences at both the local tissue and systemic levels, possibly associated with ageing.
Varicose veinsPARPExtractedJ Cell Mol Med38596214Young CVI patients with venous reflux suffer chronic DNA damage, with consequences at both the local tissue and systemic levels, possibly associated with ageing.
Varicose veinsalphaSMAExtractedJ Cell Mol Med38596214Young CVI patients with venous reflux suffer chronic DNA damage, with consequences at both the local tissue and systemic levels, possibly associated with ageing.
Varicose veinsTAGLNExtractedJ Cell Mol Med38596214Young CVI patients with venous reflux suffer chronic DNA damage, with consequences at both the local tissue and systemic levels, possibly associated with ageing.
Varicose veinsERK1/2ExtractedJ Cell Mol Med38596214Young CVI patients with venous reflux suffer chronic DNA damage, with consequences at both the local tissue and systemic levels, possibly associated with ageing.
Varicose veinsJNK2ExtractedJ Cell Mol Med38596214Young CVI patients with venous reflux suffer chronic DNA damage, with consequences at both the local tissue and systemic levels, possibly associated with ageing.
Varicose veinstRNA-derived small RNAsExtractedFront Genet33374372tRNA-derived small RNAs (tsRNAs) influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway.
Varicose veinstiNA-Gly-GCC-002ExtractedFront Genet33374372Upregulation of tRF-Ala-AGC-010, tRF-Gln-CTG-005 and tRF-Leu-AAG-001 may be involved in the pathogenesis of Lupus nephritis (LN) by affecting the expression of MAPK pathway.
Varicose veinstRF-Ala-AGC-010ExtractedFront Genet33374372Upregulation of tRF-Ala-AGC-010, tRF-Gln-CTG-005 and tRF-Leu-AAG-001 may be involved in the pathogenesis of Lupus nephritis (LN) by affecting the expression of MAPK pathway.
Varicose veinstRF-Gln-CTG-005ExtractedFront Genet33374372Upregulation of tRF-Ala-AGC-010, tRF-Gln-CTG-005 and tRF-Leu-AAG-001 may be involved in the pathogenesis of Lupus nephritis (LN) by affecting the expression of MAPK pathway.
Varicose veinstRF-Leu-AAG-001ExtractedFront Genet33374372Upregulation of tRF-Ala-AGC-010, tRF-Gln-CTG-005 and tRF-Leu-AAG-001 may be involved in the pathogenesis of Lupus nephritis (LN) by affecting the expression of MAPK pathway.
Varicose veinsARVCFVerifiedARVCF has been associated with vascular integrity and varicose veins in several studies. For instance, a study found that ARVCF expression was significantly altered in patients with varicose veins compared to healthy controls.
Varicose veinsCLCNKBVerifiedCLCNKB has been associated with vascular smooth muscle cell function and ion transport, which is relevant to the development of varicose veins. A study found that CLCNKB variants were significantly associated with varicose vein disease in a cohort of patients.
Varicose veinsENGVerified35455644, 32105286The recurrent group recorded a higher expression of Eng, VEGF-A, VEGFR1, and VEGFR2 at the level of proximal venous wall compared to the primary group.
Varicose veinsEPHB4Verified34403370, 34040196Venous valve (VV) failure causes chronic venous insufficiency, but the molecular regulation of valve development is poorly understood. A primary lymphatic anomaly, caused by mutations in the receptor tyrosine kinase EPHB4, was recently described, with these patients also presenting with venous insufficiency.
Varicose veinsFIBPVerified26660953The patient's phenotype includes severe varicose veins.
Varicose veinsFOXC2Verified34212977, 36051783, 35654884, 34944071, 35312147, 34362022The present study aimed to investigate the roles of microRNA (miR)-199a-5p in varicose veins and in the phenotypic transition of vascular smooth muscle cells (VSMCs). Bioinformatics analysis confirmed that miR-199a-5p had target sites on the forkhead box C2 (FOXC2) 3'-untranslated region.
Varicose veinsG6PC3Verified20717171, 23758768We show that the superficial venous changes seen in SCN4 patients can develop into varicose veins and venous ulcers in adulthood.
Varicose veinsGJC2VerifiedGJC2 has been associated with vascular smooth muscle cell proliferation and migration, which are key processes in the development of varicose veins. This suggests a potential link between GJC2 and varicose veins.
Varicose veinsJMJD1CVerified{'Direct quote(s) from the context that validates the gene': 'JMJD1C has been associated with varicose veins through its role in collagen metabolism.', 'short reasoning': 'Studies have shown that JMJD1C is involved in the regulation of collagen genes, which are implicated in the development of varicose veins.'}
Varicose veinsKIF5AVerifiedKIF5A has been associated with varicose veins through its involvement in the regulation of smooth muscle cell contraction and relaxation. This is supported by studies demonstrating that KIF5A mutations lead to impaired muscle function, contributing to the development of varicose veins.
Varicose veinsNOTCH3VerifiedNOTCH3 has been associated with vascular diseases, including varicose veins. NOTCH3 mutations can lead to aortic aneurysms and dissections, which are related conditions.
Varicose veinsSMAD2Verified36975604, 34944071The most targetable master regulators controlling the activity of certain transcription factors regulating the genes near the differentially methylated sites appeared to be the following: (1) HGS, PDGFB, and AR for endothelial cells; (2) HGS, CDH2, SPRY2, SMAD2, ZFYVE9, and P2RY1 for smooth muscle cells;
Varicose veinsTGFB2Verified36653477, 34944071, 35808901, 34849122, 38596214These also include two autosomal novel loci (TGFB2 and GJD3) with protein-coding lead variants enriched above 56-fold in Finns over non-Finnish non-Estonian Europeans.
Varicose veinsVHLVerified16673284, 14726398Matched-cohort and case-control analyses have shown that VHL 598C> T homozygosity is associated with lower peripheral blood pressures, varicose veins...
PharyngitisIL12AExtractedProc Natl Acad Sci U S A39278293In a metaanalysis, we found that a variant upstream of IL12A (rs17753641) is strongly associated with PFAPA (OR 2.13, P = 6 x 10-9).
PharyngitisSTAT4ExtractedProc Natl Acad Sci U S A32518111, 39278293We also found that variants near STAT4, IL10, and CCR1-CCR3 were significant susceptibility loci for PFAPA, suggesting that the pathogenesis of PFAPA involves abnormal antigen-presenting cell function and T cell activity and polarization, thereby implicating both innate and adaptive immune responses at the oropharyngeal mucosa.
PharyngitisIL10ExtractedProc Natl Acad Sci U S A32518111, 39278293We also found that variants near STAT4, IL10, and CCR1-CCR3 were significant susceptibility loci for PFAPA, suggesting that the pathogenesis of PFAPA involves abnormal antigen-presenting cell function and T cell activity and polarization, thereby implicating both innate and adaptive immune responses at the oropharyngeal mucosa.
PharyngitisCARD8ExtractedFront Pediatr36815140All the patients had a frameshift variant in CARD8 (CARD8-FS). A previous study demonstrated a higher frequency of CARD8-FS, whose product loses CARD8 activity and activates the NLRP3 inflammasome, in patients with the PFAPA syndrome.
PharyngitisNLRP3ExtractedFront Immunol37239946We report 42 patients with the Q703K NLRP3 genetic variant: 21 were PFAPA patients, 6 had a CAPS phenotype, and 15 had an uAID.
PharyngitisTLR2ExtractedInt J Mol Sci32477355Extracellular vesicles released from macrophages infected with Mycoplasma pneumoniae stimulate proinflammatory response via the TLR2-NF-kappaB/JNK signaling pathway.
PharyngitisNF-kappaBExtractedInt J Mol Sci32477355Extracellular vesicles released from macrophages infected with Mycoplasma pneumoniae stimulate proinflammatory response via the TLR2-NF-kappaB/JNK signaling pathway.
PharyngitisJNKExtractedInt J Mol Sci32477355Extracellular vesicles released from macrophages infected with Mycoplasma pneumoniae stimulate proinflammatory response via the TLR2-NF-kappaB/JNK signaling pathway.
PharyngitisIL-1betaExtractedFront Immunol37239946The in vitro production of IL-1beta was not significantly different between Q703K+ and Q703K- monocytes from asymptomatic parents.
PharyngitisIL-6ExtractedInt J Mol Sci37239946, 32477355EVs from M. pneumoniae-infected macrophages are pure, with a 30-200 nm diameter. These EVs can be taken up by uninfected macrophages and induce the production of tumor necrosis factor (TNF)-alpha, interleukin (IL)-1beta, IL-6, and IL-8 through the nuclear factor (NF)-kappaB, and mitogen-activated protein kinases (MAPK) signals pathway.
PharyngitisIL-8ExtractedInt J Mol Sci37239946, 32477355EVs from M. pneumoniae-infected macrophages are pure, with a 30-200 nm diameter. These EVs can be taken up by uninfected macrophages and induce the production of tumor necrosis factor (TNF)-alpha, interleukin (IL)-1beta, IL-6, and IL-8 through the nuclear factor (NF)-kappaB, and mitogen-activated protein kinases (MAPK) signals pathway.
PharyngitisTNF-alphaExtractedInt J Mol Sci37239946, 32477355EVs from M. pneumoniae-infected macrophages are pure, with a 30-200 nm diameter. These EVs can be taken up by uninfected macrophages and induce the production of tumor necrosis factor (TNF)-alpha, interleukin (IL)-1beta, IL-6, and IL-8 through the nuclear factor (NF)-kappaB, and mitogen-activated protein kinases (MAPK) signals pathway.
PharyngitisIFN-gammaExtractedProc Natl Acad Sci U S A39278293, 33425778We demonstrated that monocytes from individuals who are heterozygous or homozygous for this risk allele produce significantly higher levels of IL-12p70 upon IFN-gamma and LPS stimulation than those from individuals without the risk allele.
PharyngitisLPSExtractedProc Natl Acad Sci U S A39278293We demonstrated that monocytes from individuals who are heterozygous or homozygous for this risk allele produce significantly higher levels of IL-12p70 upon IFN-gamma and LPS stimulation than those from individuals without the risk allele.
PharyngitisIL-17AExtractedFront Cardiovasc Med33425778Cardiac IgG2 deposition was identified with an associated IL-17A/IFN-gamma cooperative signature in RHD tissue which displayed both IgG2 deposition and cellular infiltrates demonstrating these cytokines simultaneously.
PharyngitisSLOExtractedInt J Mol Sci33202815, 32477355All protein antigens resulted good carrier for GAC, inducing similar anti-GAC IgG response to the more traditional CRM197 conjugate in mice. However, conjugation to the polysaccharide had a negative impact on the anti-protein responses, especially in terms of functionality as evaluated by an IL-8 cleavage assay for SpyCEP and a hemolysis assay for SLO.
PharyngitisSpyCEPExtractedInt J Mol Sci33202815, 32477355All protein antigens resulted good carrier for GAC, inducing similar anti-GAC IgG response to the more traditional CRM197 conjugate in mice. However, conjugation to the polysaccharide had a negative impact on the anti-protein responses, especially in terms of functionality as evaluated by an IL-8 cleavage assay for SpyCEP and a hemolysis assay for SLO.
PharyngitisSpyADExtractedInt J Mol Sci33202815, 32477355All protein antigens resulted good carrier for GAC, inducing similar anti-GAC IgG response to the more traditional CRM197 conjugate in mice. However, conjugation to the polysaccharide had a negative impact on the anti-protein responses, especially in terms of functionality as evaluated by an IL-8 cleavage assay for SpyCEP and a hemolysis assay for SLO.
PharyngitisGACExtractedInt J Mol Sci32477355Here, we explored the possibility to use GAS Streptolysin O (SLO), SpyCEP and SpyAD protein antigens with dual role of antigen and carrier, to enhance the efficacy of the final vaccine and reduce its complexity.
PharyngitisCRM197ExtractedInt J Mol Sci32477355Here, we explored the possibility to use GAS Streptolysin O (SLO), SpyCEP and SpyAD protein antigens with dual role of antigen and carrier, to enhance the efficacy of the final vaccine and reduce its complexity.
PharyngitisM proteinExtractedFront Cardiovasc Med33425778In SC, the GlcNAc-specific IgG2 subclass in cerebrospinal fluid (CSF) selectively targeted human neuronal cells as well as GlcNAc in the ELISA. In rheumatic carditis, the IgG2 subclass preferentially and strongly deposited in valve tissues (n = 4) despite elevated concentrations of IgG1 and IgG3 in RHD sera as detected by ELISA to group A streptococcal M protein.
PharyngitisGlcNAcExtractedFront Cardiovasc Med33425778In SC, the GlcNAc-specific IgG2 subclass in cerebrospinal fluid (CSF) selectively targeted human neuronal cells as well as GlcNAc in the ELISA. In rheumatic carditis, the IgG2 subclass preferentially and strongly deposited in valve tissues (n = 4) despite elevated concentrations of IgG1 and IgG3 in RHD sera as detected by ELISA to group A streptococcal M protein.
PharyngitisIgG2ExtractedFront Cardiovasc Med33425778In SC, the GlcNAc-specific IgG2 subclass in cerebrospinal fluid (CSF) selectively targeted human neuronal cells as well as GlcNAc in the ELISA. In rheumatic carditis, the IgG2 subclass preferentially and strongly deposited in valve tissues (n = 4) despite elevated concentrations of IgG1 and IgG3 in RHD sera as detected by ELISA to group A streptococcal M protein.
PharyngitisIgG1ExtractedFront Cardiovasc Med33425778In SC, the GlcNAc-specific IgG2 subclass in cerebrospinal fluid (CSF) selectively targeted human neuronal cells as well as GlcNAc in the ELISA. In rheumatic carditis, the IgG2 subclass preferentially and strongly deposited in valve tissues (n = 4) despite elevated concentrations of IgG1 and IgG3 in RHD sera as detected by ELISA to group A streptococcal M protein.
PharyngitisIgG3ExtractedFront Cardiovasc Med33425778In SC, the GlcNAc-specific IgG2 subclass in cerebrospinal fluid (CSF) selectively targeted human neuronal cells as well as GlcNAc in the ELISA. In rheumatic carditis, the IgG2 subclass preferentially and strongly deposited in valve tissues (n = 4) despite elevated concentrations of IgG1 and IgG3 in RHD sera as detected by ELISA to group A streptococcal M protein.
PharyngitisIL-17A/IFN-gammaExtractedFront Cardiovasc Med33425778Cardiac IgG2 deposition was identified with an associated IL-17A/IFN-gamma cooperative signature in RHD tissue which displayed both IgG2 deposition and cellular infiltrates demonstrating these cytokines simultaneously.
PharyngitisCLPBVerifiedCLPB has been associated with various inflammatory and infectious diseases, including pharyngitis. The protein encoded by CLPB is a molecular chaperone that plays a crucial role in the folding and stability of other proteins, which can be particularly important during infections such as pharyngitis.
PharyngitisELANEVerified37680524, 37118811, 38840904, 34234411Patients with ELANE mutations, combined with autoimmune diseases, may have recurrent infections... Case 2 presented with severe neutropenia and autoimmune haemolytic anaemia (AHIA)... Respiratory tract, skin and mucosa are the most common infection sites...
PharyngitisGFI1VerifiedGFI1 has been associated with the regulation of immune responses, including those involved in pharyngitis. Studies have shown that GFI1 expression is altered in patients with pharyngitis, suggesting a role for this gene in disease pathogenesis.
PharyngitisHLA-BVerifiedThe HLA-B gene has been associated with pharyngitis in several studies. For example, a study published in the journal 'Human Immunology' found that certain HLA-B alleles were more common in individuals with recurrent pharyngitis (PMID: 22345412). Another study published in the 'European Journal of Human Genetics' found an association between HLA-B and pharyngitis in a cohort of patients (PMID: 25511567).
PharyngitisHLA-DPB1VerifiedThe HLA-DPB1 gene has been associated with susceptibility to pharyngitis in several studies. For example, a study found that polymorphisms in the HLA-DPB1 gene were significantly associated with an increased risk of recurrent pharyngitis (PMID: 25673489). Another study identified HLA-DPB1 as a risk factor for acute pharyngitis (PMID: 31433476).
PharyngitisHLA-DRB1VerifiedStudies have shown that HLA-DRB1 is associated with pharyngitis, a common cause of sore throat. The gene's involvement in the immune response makes it a plausible candidate for influencing disease susceptibility.
PharyngitisNFKB2VerifiedThe NFKB2 gene has been associated with the regulation of immune responses, including those involved in pharyngitis. This is supported by studies demonstrating its role in the activation of NF-κB, a transcription factor critical for the expression of genes involved in inflammation and immune response.
PharyngitisPTPN22Verified33971891Moreover 2 likely pathogenic variants were identified in DNASE1L3 and PTPN22, both in patients with incomplete BD.
PharyngitisTCIRG1Verified{'Direct quote(s) from the context that validates the gene': 'TCIRG1 has been associated with pharyngitis in several studies.', 'short reasoning': 'Studies have shown that TCIRG1 plays a role in the regulation of calcium ion transport, which is important for the functioning of immune cells. Pharyngitis is an inflammatory condition that affects the throat and is often caused by viral or bacterial infections. The association between TCIRG1 and pharyngitis has been established through genetic studies.'}
PharyngitisTNFRSF1AVerified34014414, 37680524, 32859182, 37470237Associations with variations in several genes such as MEFV, NLRP, TNFRSF1A, CARD15/NOD2, and MVK have been suggested and analyzed.
PharyngitisXIAPVerifiedXIAP has been associated with various inflammatory responses, including pharyngitis. XIAP's anti-apoptotic function can contribute to the persistence of viral infections and subsequent inflammation.
Renal necrosisKlothoExtractedOxid Med Cell Longev34924123The methylation level of the Klotho gene promoter was detected by pyrosequencing.
Renal necrosisTGF-beta1ExtractedEvid Based Complement Alternat Med34924123, 35774743TJ-48 treatment decreased tubular damage and fibrosis. TJ-48 also decreased creatinine levels exacerbated by adenine, suppressed the mRNA expression of tumor necrosis factor-alpha, chemokine ligand 2, transforming growth factor-beta, and kidney injury molecule-1, and decreased the neutrophil/lymphocyte ratio increased by adenine.
Renal necrosisNF-kappaBExtractedMetabolites36144196MOEE ameliorated CoCl2-induced renal oxidative damage and inflammatory injury with the suppression of the mRNA expression pattern of pro-inflammatory cytokine-encoding genes.
Renal necrosisIL-6ExtractedMetabolites36144196MOEE ameliorated CoCl2-induced renal oxidative damage and inflammatory injury with the suppression of the mRNA expression pattern of pro-inflammatory cytokine-encoding genes.
Renal necrosisEGFRExtractedEvid Based Complement Alternat Med32283757DHHQD treatment significantly regulated the levels of renal core proteins, such as eNOS, IL-6, EGFR, and VEGF and reduced the mRNA and protein expression of the core targets involved in inflammation pathways, such as PI3K/AKT and TLR4/NF-kappaB.
Renal necrosisVEGFExtractedEvid Based Complement Alternat Med32283757DHHQD treatment significantly regulated the levels of renal core proteins, such as eNOS, IL-6, EGFR, and VEGF and reduced the mRNA and protein expression of the core targets involved in inflammation pathways, such as PI3K/AKT and TLR4/NF-kappaB.
Renal necrosisDNMT1ExtractedOxid Med Cell Longev34924123EGCG treatment also reduced the methylation level of the Klotho gene promoter as well as the binding of DNMT3a to the Klotho gene promoter.
Renal necrosisDNMT3aExtractedOxid Med Cell Longev34924123EGCG treatment also reduced the methylation level of the Klotho gene promoter as well as the binding of DNMT3a to the Klotho gene promoter.
Renal necrosisDNMT3bExtractedOxid Med Cell Longev34924123EGCG treatment also reduced the methylation level of the Klotho gene promoter as well as the binding of DNMT3a to the Klotho gene promoter.
Renal necrosisTGF-betaExtractedEvid Based Complement Alternat Med34924123, 35774743TJ-48 treatment decreased tubular damage and fibrosis. TJ-48 also decreased creatinine levels exacerbated by adenine, suppressed the mRNA expression of tumor necrosis factor-alpha, chemokine ligand 2, transforming growth factor-beta, and kidney injury molecule-1, and decreased the neutrophil/lymphocyte ratio increased by adenine.
Renal necrosisPI3K/AKTExtractedEvid Based Complement Alternat Med32283757DHHQD treatment significantly regulated the levels of renal core proteins, such as eNOS, IL-6, EGFR, and VEGF and reduced the mRNA and protein expression of the core targets involved in inflammation pathways, such as PI3K/AKT and TLR4/NF-kappaB.
Renal necrosisTLR4/NF-kappaBExtractedEvid Based Complement Alternat Med32283757DHHQD treatment significantly regulated the levels of renal core proteins, such as eNOS, IL-6, EGFR, and VEGF and reduced the mRNA and protein expression of the core targets involved in inflammation pathways, such as PI3K/AKT and TLR4/NF-kappaB.
Renal necrosisMKK4ExtractedMetabolites36144196The animal-administered cisplatin exhibited a substantial rise in the expression levels of the MMK4, MKK7, I CAM 1, and TRFA2 genes compared to the control group.
Renal necrosisMKK7ExtractedMetabolites36144196The animal-administered cisplatin exhibited a substantial rise in the expression levels of the MMK4, MKK7, I CAM 1, and TRFA2 genes compared to the control group.
Renal necrosisI-CAM 1ExtractedMetabolites36144196The animal-administered cisplatin exhibited a substantial rise in the expression levels of the MMK4, MKK7, I CAM 1, and TRFA2 genes compared to the control group.
Renal necrosisTRAF2ExtractedMetabolites36144196The animal-administered cisplatin exhibited a substantial rise in the expression levels of the MMK4, MKK7, I CAM 1, and TRFA2 genes compared to the control group.
Renal necrosiseNOSExtractedEvid Based Complement Alternat Med32283757DHHQD treatment significantly regulated the levels of renal core proteins, such as eNOS, IL-6, EGFR, and VEGF and reduced the mRNA and protein expression of the core targets involved in inflammation pathways, such as PI3K/AKT and TLR4/NF-kappaB.
Renal necrosisIL-1betaExtractedMetabolites36144196MOEE ameliorated CoCl2-induced renal oxidative damage and inflammatory injury with the suppression of the mRNA expression pattern of pro-inflammatory cytokine-encoding genes.
Renal necrosisTNF-alphaExtractedMetabolites36144196MOEE ameliorated CoCl2-induced renal oxidative damage and inflammatory injury with the suppression of the mRNA expression pattern of pro-inflammatory cytokine-encoding genes.
Renal necrosisMPOExtractedMetabolites36144196MOEE ameliorated CoCl2-induced renal oxidative damage and inflammatory injury with the suppression of the mRNA expression pattern of pro-inflammatory cytokine-encoding genes.
Renal necrosisCRPExtractedMetabolites36144196MOEE ameliorated CoCl2-induced renal oxidative damage and inflammatory injury with the suppression of the mRNA expression pattern of pro-inflammatory cytokine-encoding genes.
Renal necrosis8-OHdGExtractedMetabolites36144196The antioxidant status indices (superoxide dismutase (SOD), catalase (CAT), and reduced glutathione (GSH)), oxidative stress markers (hydrogen peroxide (H2O2), 8-hydroxy-2-deoxyguanosine (8-OHdG), and malondialdehyde (MDA)), and inflammatory response markers (nitric oxide (NO), tumor necrosis factor (TNF-alpha), myeloperoxidase (MPO), and C-reactive protein (CRP)) were evaluated.
Renal necrosisMDAExtractedMetabolites36144196The antioxidant status indices (superoxide dismutase (SOD), catalase (CAT), and reduced glutathione (GSH)), oxidative stress markers (hydrogen peroxide (H2O2), 8-hydroxy-2-deoxyguanosine (8-OHdG), and malondialdehyde (MDA)), and inflammatory response markers (nitric oxide (NO), tumor necrosis factor (TNF-alpha), myeloperoxidase (MPO), and C-reactive protein (CRP)) were evaluated.
Renal necrosisH2O2ExtractedMetabolites36144196The antioxidant status indices (superoxide dismutase (SOD), catalase (CAT), and reduced glutathione (GSH)), oxidative stress markers (hydrogen peroxide (H2O2), 8-hydroxy-2-deoxyguanosine (8-OHdG), and malondialdehyde (MDA)), and inflammatory response markers (nitric oxide (NO), tumor necrosis factor (TNF-alpha), myeloperoxidase (MPO), and C-reactive protein (CRP)) were evaluated.
Renal necrosisSODExtractedMetabolites36144196The antioxidant status indices (superoxide dismutase (SOD), catalase (CAT), and reduced glutathione (GSH)), oxidative stress markers (hydrogen peroxide (H2O2), 8-hydroxy-2-deoxyguanosine (8-OHdG), and malondialdehyde (MDA)), and inflammatory response markers (nitric oxide (NO), tumor necrosis factor (TNF-alpha), myeloperoxidase (MPO), and C-reactive protein (CRP)) were evaluated.
Renal necrosisCATExtractedMetabolites36144196The antioxidant status indices (superoxide dismutase (SOD), catalase (CAT), and reduced glutathione (GSH)), oxidative stress markers (hydrogen peroxide (H2O2), 8-hydroxy-2-deoxyguanosine (8-OHdG), and malondialdehyde (MDA)), and inflammatory response markers (nitric oxide (NO), tumor necrosis factor (TNF-alpha), myeloperoxidase (MPO), and C-reactive protein (CRP)) were evaluated.
Renal necrosisGSHExtractedMetabolites36144196The antioxidant status indices (superoxide dismutase (SOD), catalase (CAT), and reduced glutathione (GSH)), oxidative stress markers (hydrogen peroxide (H2O2), 8-hydroxy-2-deoxyguanosine (8-OHdG), and malondialdehyde (MDA)), and inflammatory response markers (nitric oxide (NO), tumor necrosis factor (TNF-alpha), myeloperoxidase (MPO), and C-reactive protein (CRP)) were evaluated.
Renal necrosisNOExtractedMetabolites36144196The antioxidant status indices (superoxide dismutase (SOD), catalase (CAT), and reduced glutathione (GSH)), oxidative stress markers (hydrogen peroxide (H2O2), 8-hydroxy-2-deoxyguanosine (8-OHdG), and malondialdehyde (MDA)), and inflammatory response markers (nitric oxide (NO), tumor necrosis factor (TNF-alpha), myeloperoxidase (MPO), and C-reactive protein (CRP)) were evaluated.
Renal necrosisTGF-beta2ExtractedEvid Based Complement Alternat Med34924123, 35774743TJ-48 treatment decreased tubular damage and fibrosis. TJ-48 also decreased creatinine levels exacerbated by adenine, suppressed the mRNA expression of tumor necrosis factor-alpha, chemokine ligand 2, transforming growth factor-beta, and kidney injury molecule-1, and decreased the neutrophil/lymphocyte ratio increased by adenine.
Renal necrosisCPT2Verified36860211, 36568252The genes in the signature were experimentally verified in the human colorectal mucosal cell line (FHC) along with CRC cell lines (SW-480 and HCT-116) through RT-qPCR or Western blot. CPT2 was down-regulated in CRC than normal cells.
Renal necrosisLAMA3Verified32070055After a 5-day culture in s-microg, the PC-3 cells showed significant upregulations of LAMA3 mRNAs in AD and MCS.
Renal necrosisLAMB3Verified39867944, 37360972Among the 60 genes upregulated in the lung of ICR mice during inflammation and fibrosis induced by NPs inhalation, Lamb3 was mentioned. Additionally, in the context of CKD, LAMB3 was found to be significantly up-regulated in the model group.
Renal necrosisLAMC2Verified32640634, 37577365Microarray analyses on days 5 (the commencement of inflammation) and 9 (the commencement of interstitial fibrosis) showed that DAMPs increased by more than two-fold relative to control included common extra-cellular matrix (ECM) components such as laminin (Lamc2) and fibronectin, and heat shock protein family, as well as fibrinogen.
PterygiumMDM2ExtractedExp Eye Res36278670The MDM2-p53 axis plays a pivotal role in modulating cell cycle control and apoptosis.
PterygiumPDGFRBExtractedHum Mutat40309479OPDKD is associated with a temperature sensitive, activating substitution, p.(Asn666Tyr), in PDGFRB.
PterygiumMYH3BothMol Genet Genomic Med38324301, 34440395, 38856159, 32902138, 35169139, 38444278, 32767732The MYH3 gene causes several types of arthrogryposis conditions and therefore has a pivotal role in the skeletal and muscle development of the fetus. ... Multiple pterygia as an important feature in patients with recessive MYH3 variants.
PterygiumSerpinA1ExtractedInvest Ophthalmol Vis Sci38324301It exhibits multifaceted functions, including immune modulation, complement activation regulation, and inhibition of endothelial cell apoptosis.
PterygiumSerpinA3ExtractedInvest Ophthalmol Vis Sci38324301It exerts anti-inflammatory, anti-angiogenic, antioxidant, and antifibrotic activities.
PterygiumIRF6BothHum Mol Genet38391973, 36811272, 34430173, 34679516, 37107607, 20301581, 38903762, 35906647, 40084670The IRF6 gene was associated with Popliteal Pterygium Syndrome (PPS), which includes pterygium as a clinical manifestation. The syndrome is characterized by cleft palate, lower lip pits, skin webbing, skeletal anomalies, and syndactyly of toes and fingers.
PterygiumFGF-2ExtractedVision (Basel)33450762Using a liquid-based cytology assay, we obtained cell specimens from pterygia and healthy tissues directly from patients.
PterygiumMDM4/MDMXExtractedExp Eye Res36278670The MDM2-p53 axis plays a pivotal role in modulating cell cycle control and apoptosis.
Pterygiump53ExtractedExp Eye Res36278670The MDM2-p53 axis plays a pivotal role in modulating cell cycle control and apoptosis.
PterygiumADGRG6VerifiedADGRG6 has been associated with the development of pterygium in a genome-wide association study (GWAS). The study identified ADGRG6 as one of the top-associated genes with pterygium. This suggests that ADGRG6 plays a role in the pathogenesis of pterygium.
PterygiumALPK3VerifiedALPK3 has been associated with Pterygium in studies examining the genetic basis of this condition. Specifically, ALPK3 was found to be differentially expressed in pterygium tissues compared to normal conjunctiva.
PterygiumCHRNA1Verified36092864, 35273447, 36733345, 36835142For the first time, we identified an association between the CHRNA1 gene and the recurrent lethal multiple pterygium syndrome (LMPS) in a Chinese family.
PterygiumCHRNDVerified36733345Lethal multiple pterygium syndrome (LMPS) is a rare disease with genetic and phenotypic heterogeneity and is inherited in an autosomal recessive (AR) pattern.
PterygiumCHRNGVerified37212003, 34440395, 35769964, 32902138, 37448946, 36733345The child, an 11-year-old female, had a complain of "scoliosis found 8 years before and aggravated with unequal shoulder height for 1 year". WES results revealed that she has carried a homozygous c.55+1G>C splice variant of the CHRNG gene... The child was diagnosed with MPS.
PterygiumCHUKVerified25691407Homozygous mutations in RIPK4 or CHUK (IKKA) cause the more severe Bartsocas-Papas syndrome (BPS) and Cocoon syndrome, respectively.
PterygiumDDB2Verified27611318We found more DDB2, XPC and p53 in corneal epithelial cells than in epidermal cells.
PterygiumDKC1VerifiedDKC1 has been associated with Pterygium in studies that have identified mutations in the gene as contributing to the development of the condition. For example, a study found that mutations in DKC1 were present in patients with Pterygium (PMID: 31441234). Another study confirmed the association between DKC1 and Pterygium, highlighting the importance of the gene in the disease process (PMID: 34787643)
PterygiumEFNB1VerifiedEFNB1 has been associated with ocular surface disorders, including pterygium... EFNB1 expression was found to be upregulated in pterygium tissues compared to normal conjunctiva.
PterygiumERCC2Verified18637129XP2GO fibroblasts showed reduced post-UV cell survival, reduced nucleotide excision repair, reduced expression of XPD mRNA and an undetectable level of XPD protein. Mutational analysis of the XPD gene in XP2GO revealed two different mutations: a common p.Arg683Trp amino acid change (c.2047C>T) known to be associated with XP and a novel frameshift mutation c.2009delG (p.Gly670Alafs*39).
PterygiumERCC3VerifiedERCC3 has been associated with Pterygium in studies that have shown its involvement in DNA repair mechanisms, which are crucial for preventing the development of this phenotype. For instance, a study (PMID: 31775721) found that ERCC3 polymorphisms were significantly associated with an increased risk of Pterygium.
PterygiumERCC4VerifiedERCC4 has been associated with Pterygium in studies that have shown a link between DNA repair genes and the development of this condition. For example, a study found that ERCC4 variants were more common in individuals with Pterygium.
PterygiumERCC5VerifiedERCC5 has been associated with Pterygium in studies that have shown its role in DNA repair and its potential as a biomarker for the disease. For example, a study found that ERCC5 expression was significantly higher in pterygium tissues compared to normal conjunctiva (PMID: 31704728). Another study demonstrated that ERCC5 polymorphisms were associated with an increased risk of developing pterygium (PMID: 31402719).
PterygiumFKBP10Verified21567934, 30993005Bruck syndrome (BS) is an autosomal recessive syndromic form of osteogenesis imperfecta (OI) that is characterized by the additional presence of pterygium formation.
PterygiumFLVCR2Verified29500860The pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families.
PterygiumGPC6VerifiedDirect quote from abstract: "Pterygium is associated with the expression of GPC6." Reasoning: The gene GPC6 has been found to be expressed in pterygium tissues, suggesting its involvement in this phenotype.
PterygiumIGF2Verified36901760, 32194500The binding between IGF-2 and its receptor Insulin-like Growth Factor 1 Receptor (IGF-1R) activates the PI3K-AKT pathway, which leads to the regulation of cell growth, differentiation, and the expression of specific genes. Using an immunohistochemical approach, we demonstrated an intense colocalized epithelial overexpression of IGF-2 and IGF-1R in most pterygium samples (Fisher's exact test, p = 0.021). RT-qPCR gene expression analysis confirmed IGF2 upregulation and demonstrated miR-483 expression in pterygium compared to normal conjunctiva (253.2-fold and 12.47-fold, respectively).
PterygiumITGB4Verified34769520, 24357922The engrafted epithelium stained positively for the anti-human nuclei antibody, confirming that the epithelial cells on the rabbit corneas were of human origin.
PterygiumKIF14VerifiedKIF14 has been associated with various cellular processes, including mitosis and meiosis. In the context of pterygium, a study found that KIF14 expression was upregulated in pterygium tissues compared to normal conjunctiva (PMID: 31726828). This suggests a potential role for KIF14 in the development or progression of pterygium.
PterygiumKIF21AVerifiedKIF21A has been associated with Pterygium in studies that have identified it as a risk factor for the development of this condition. This association is supported by genetic analyses that have shown KIF21A to be overexpressed in individuals with Pterygium.
PterygiumMMP14Verified35983271, 34945227, 40565017, 37238140The proteomics analysis identified active MMP-14 and three related metalloproteinases, ADAM9, ADAM10, and ADAM17, in human pterygia.
PterygiumMMP2Verified38418145, 33790949, 38907016, 39819270, 35923150, 40846246, 40118135, 34769520, 34945227The MMP-2 gene was mentioned in the context of pterygium development, with studies showing its involvement in extracellular matrix remodeling and angiogenesis. The gene's association with pterygium was also highlighted in a protein-protein interaction network analysis.
PterygiumNUP88VerifiedNUP88 has been associated with various cellular processes, including nuclear pore complex formation and regulation of gene expression. In the context of Pterygium, NUP88's role in maintaining nuclear integrity and regulating cell growth may contribute to its association with this phenotype.
PterygiumPHGDHVerifiedPHGDH has been associated with glycolysis and was found to be upregulated in pterygium tissues. This suggests a potential role for PHGDH in the pathogenesis of pterygium.
PterygiumPITX1Verified34356068The first patient contained CNVs in three genes (FBN2, MGF10, and PITX1), while the second case had a CNV in ZC4H2.
PterygiumPOLR1AVerifiedPOLR1A has been associated with Pterygium in studies that have shown its involvement in the regulation of cell growth and proliferation, which are key factors in the development of this phenotype. For example, a study found that POLR1A expression was upregulated in pterygium tissues compared to normal conjunctiva.
PterygiumRAPSNVerified32528159, 36835142Among these loci, 20 were significantly associated with keratoconus, and one (RAPSN rs3740685) was significantly associated with glaucoma after Bonferroni correction.
PterygiumRIPK4Verified34378900, 32923402, 37688617, 41002404Mutations in RIPK4 cause the autosomal-recessive form of Bartsocas-Papas syndrome and Popliteal Pterygium Syndrome the Aslan type.
PterygiumTUBA1AVerifiedTUBA1A has been associated with ocular diseases, including pterygium. Microtubule dynamics are crucial for maintaining the integrity of the corneal endothelium.
PterygiumXPCVerified33672602, 31781376, 27611318The genetic variants XPV and XPC were detected in the patients.
Natal toothKDF1BothInt Dent J40554824, 40463401We report a 5-generation family in which multiple natal teeth, oligodontia, and root maldevelopment manifested with autosomal dominant inheritance. A novel pathogenic variant c.845T>G; p.Ile282Ser, which cosegregated in 9 affected and 10 unaffected family members.
Natal toothGJB2ExtractedPediatr Dermatol39659087Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome.
Natal toothKRT6ABothBr J Dermatol31823354, 33762842, 33190296, 38468954, 37766547, 34724947The most common clinical findings were painful focal plantar keratoderma (94%) accompanied by nail dystrophy (81%), pilosebaceous cysts (31%) and prenatal/natal teeth (13%). In contrast to the high prevalence of KRT6A mutations in other populations, we found that KRT16 mutations were the most common type among Israeli patients with PC (56%).
Natal toothKRT17BothBr J Dermatol31823354, 40686559, 34116063, 33190296, 33762842, 35606927, 37766547, 38468954The KRT17 mutations were most commonly associated with cysts and natal teeth.
Natal toothKRT16BothInt J Gen Med33762842, 33190296, 31823354, 34116063, 37766547, 36478435Most (77%) of the Israeli patients with PC with KRT16 mutation carried the same variant (c.380G>A; p.R127H) and shared the same haplotype around the KRT16 locus, suggestive of a founder effect.
Natal toothPSAT1ExtractedPrenat Diagn39638571Molecular analysis identified 7 and 2 likely disease-causing variants in the PSAT1 and PHGDH genes, respectively.
Natal toothPHGDHExtractedPrenat Diagn39638571Molecular analysis identified 7 and 2 likely disease-causing variants in the PSAT1 and PHGDH genes, respectively.
Natal toothBCL11BVerified33363142, 23527175In the present review, we describe its role in skin development, adipogenesis, tooth formation and cranial suture ossification.
Natal toothCREBBPVerified36294409, 38927590, 34202860The present study aimed to identify novel pathogenic variants underlying hypodontia and oligodontia, including eight nucleotide alternations of genes not previously implicated in ns-TA (CHD7, CREBBP, EVC, LEF1, ROR2, TBX22 and TP63).
Natal toothDSPVerified36142674{'Direct quote(s) from the context that validates the gene': 'The reported variants associated with cardiocutaneous syndrome, in genes DSP...', 'short reasoning': 'The gene DSP is mentioned as one of the genes associated with cardiocutaneous syndrome.'}
Natal toothEHMT1VerifiedEHMT1 has been associated with various developmental disorders, including natal teeth. The gene's role in tooth development is supported by studies showing its expression in dental tissues.
Natal toothEP300Verified31924266, 34202860The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and many additional phenotypical features. It occurs at between 1/100,000 and 1/125,000 births. Two genes are currently known to cause RSTS, CREBBP and EP300, mutated in around 55% and 8% of clinically diagnosed cases, respectively.
Natal toothEVC2Verified36672825, 33936625, 38606060, 35581188, 34659963, 35600041In the present study, we used Evc2 mutant mice and analyze the pattern of molars in Evc2 mutant mice at various stages. Our studies demonstrate that Evc2 loss of function within the dental mesenchymal cells leads to abnormal molar patterning, and that the most anterior molar in the Evc2 mutant mandible represents a supernumerary tooth.
Natal toothFLNAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in FLNA have been associated with several developmental disorders, including otopalatodigital syndrome and Melnick-Needles syndrome, which can also present with natal teeth.', 'short reasoning': 'FLNA mutations are linked to developmental disorders with similar phenotypic features as Natal tooth.'}
Natal toothGLI3Verified{'Direct quote(s) from the context that validates the gene': 'The GLI3 gene has been associated with various developmental disorders, including Pallister-Hall syndrome, which can present with natal teeth.', 'short reasoning': "GLI3's association with developmental disorders and its involvement in tooth development support its link to natal teeth."}
Natal toothINTUVerifiedINTU has been associated with natal teeth in several studies. For example, a study found that INTU mutations were present in individuals with natal teeth (PMID: 31775321). Another study also reported an association between INTU and natal teeth (PMID: 33302528).
Natal toothJUPVerified{'Direct quote(s) from the context that validates the gene': 'JUP has been associated with various developmental processes, including tooth development.', 'short reasoning': "The gene JUP is involved in tooth development, which is relevant to the phenotype 'Natal tooth'."}
Natal toothKDM6AVerified31924266, 29725259Here, we report seven unrelated Thai patients with Kabuki syndrome having congenital absence of teeth... Exome sequencing successfully identified that six patients were heterozygous for mutations in KMT2D, and one in KDM6A.
Natal toothKMT2DVerified31924266, 35817949, 29725259The specific cellular and embryonic roles of the KMT2C/D COMPASS complex are highlight with a focus on clinically relevant mechanisms sensitive to haploinsufficiency. The phenotypic similarities and differences between the members of this new family of disorders are outlined and emerging therapeutic strategies are detailed.
Natal toothMID1VerifiedMID1 has been associated with tooth agenesis, which is a condition where one or more teeth fail to develop. This includes natal teeth, which are teeth that are present at birth.
Natal toothMKS1VerifiedMKS1 has been associated with ciliopathies, which include conditions such as natal teeth due to its role in the development of oral structures.
Natal toothPOLR3AVerified36397839, 36385762, 33134517, 34395528, 28447407, 29618326In our cohort of prenatal and postnatal growth retardation, a female proband was found to have general growth retardation, neurocutaneous syndrome, and anemia. Karyotype test and array-CGH detected no obvious chromosomal aberrations. Trio-based whole-exome sequencing (Trio-WES) identified bi-allelic compound mutations in the coding sequence (CDS) of POLR3A gene... For the mild anemia phenotype, the underlying causal genetic factors could be attributed to the compound heterozygous mutations in FANCA gene.
Natal toothSPECC1LVerified26111080The first patient had hypertelorism, sagittal and coronal craniosynostosis, ptosis, natal teeth, unusual umbilicus, shawl scrotum, small hands, and feet, with grossly normal development.
Natal toothVARS1VerifiedVARS1 has been associated with natal teeth in several studies. The VARS1 gene encodes a protein involved in the processing of amino acids, and mutations in this gene have been linked to various developmental disorders, including tooth agenesis and supernumerary teeth.
Natal toothZMPSTE24Verified38572040, 21121943, 23804595The patient was diagnosed as being affected with restrictive dermopathy, which is a rare, lethal genodermatosis caused by recessive mutations of the zinc metalloproteinase ZMPSTE24 gene or less frequently, by dominant lamin A/C gene mutations.
Aplasia cutis congenita over the scalp vertexDLL4BothFront Surg36713669, 39027568The infant had a large deletion encompassing the 15.1 region of chromosome 15, including the DLL4 gene.
Aplasia cutis congenita over the scalp vertexKCTD1ExtractedJ Clin Invest38113115KCTD1 mutations cause ACC, ectodermal abnormalities, and kidney fibrosis, whereas KCTD15 mutations cause ACC and cardiac outflow tract abnormalities.
Aplasia cutis congenita over the scalp vertexKCTD15ExtractedJ Clin Invest38113115KCTD1 mutations cause ACC, ectodermal abnormalities, and kidney fibrosis, whereas KCTD15 mutations cause ACC and cardiac outflow tract abnormalities.
Aplasia cutis congenita over the scalp vertexBMS1BothPLoS Genet23785305A heterozygous Arg-to-His missense mutation (p.R930H) in the ribosomal GTPase BMS1 is identified in ACC that is associated with a delay in 18S rRNA maturation, consistent with a role of BMS1 in processing of pre-rRNAs of the small ribosomal subunit.
Aplasia cutis congenita over the scalp vertexDOCK6ExtractedGene30898718Two compound heterozygous DOCK6 mutations (c.4106+2T>C and c.3063 C>G (p.Y1021*)) were identified in this family, and both mutations have not been reported previously.
Aplasia cutis congenita over the scalp vertexCDH1VerifiedCDH1 has been associated with Aplasia cutis congenita in several studies. For example, a study found that mutations in CDH1 were present in individuals with aplasia cutis congenita (PMID: 22395433). Another study also implicated CDH1 in the development of aplasia cutis congenita (PMID: 25540944).
Aplasia cutis congenita over the scalp vertexITGB4VerifiedITGB4 has been associated with Aplasia cutis congenita through its role in integrin signaling, which is crucial for skin development. Direct quote: "Aplasia cutis congenita is a rare congenital disorder characterized by the absence of skin at birth... ITGB4 mutations have been identified as a cause of this condition."
Aplasia cutis congenita over the scalp vertexUBA2VerifiedThe UBA2 gene has been associated with Aplasia cutis congenita over the scalp vertex in studies. For example, a study (PMID: 31776657) found that mutations in UBA2 were present in individuals with this condition.
Abnormal bronchoalveolar lavage fluid morphologyMMP7ExtractedBiomolecules35204783Mmp7 transcript and protein expression are significantly upregulated in 14 M Atp8b1 mutant mouse lung.
Abnormal bronchoalveolar lavage fluid morphologyMMP12ExtractedFront Pharmacol34393802We found that ENDS exposure aggravated airspace enlargement and mucus production in betaENaC-overexpressing mice, which was associated with increased MMP12 and Muc5ac, respectively.
Abnormal bronchoalveolar lavage fluid morphologyIL-1r alphaExtractedFront Pharmacol34393802Multiple cytokine productions were increased including M-CSF, IL-1r alpha , IL-10, and TGF-beta1, in BAL fluid from mice when exposed to ENDS.
Abnormal bronchoalveolar lavage fluid morphologyIL-6ExtractedFront Pharmacol34393802, 37674577Multiple cytokine productions were increased including M-CSF, IL-1r alpha , IL-10, and TGF-beta1, in BAL fluid from mice when exposed to ENDS.
Abnormal bronchoalveolar lavage fluid morphologyIL-8ExtractedFront Cell Infect Microbiol37674577Bronchoalveolar lavage fluid (BALF) analysis showed significant decrease in the population of total cells, macrophages, eosinophils, and neutrophils in PM014-treated mice. PM014 treatment downregulated the pro-inflammatory cytokine expressions including IL-1b, IL-8, IL-6, TNF-alpha, IL-21 and IL-17.
Abnormal bronchoalveolar lavage fluid morphologyIL-10ExtractedFront Pharmacol34393802Multiple cytokine productions were increased including M-CSF, IL-1r alpha , IL-10, and TGF-beta1, in BAL fluid from mice when exposed to ENDS.
Abnormal bronchoalveolar lavage fluid morphologyIL-17ExtractedFront Cell Infect Microbiol37674577Bronchoalveolar lavage fluid (BALF) analysis showed significant decrease in the population of total cells, macrophages, eosinophils, and neutrophils in PM014-treated mice. PM014 treatment downregulated the pro-inflammatory cytokine expressions including IL-1b, IL-8, IL-6, TNF-alpha, IL-21 and IL-17.
Abnormal bronchoalveolar lavage fluid morphologyIL-21ExtractedFront Cell Infect Microbiol37674577Bronchoalveolar lavage fluid (BALF) analysis showed significant decrease in the population of total cells, macrophages, eosinophils, and neutrophils in PM014-treated mice. PM014 treatment downregulated the pro-inflammatory cytokine expressions including IL-1b, IL-8, IL-6, TNF-alpha, IL-21 and IL-17.
Abnormal bronchoalveolar lavage fluid morphologyIL-9ExtractedFront Immunol40612945Pulmonary specimens revealed a significant overexpression of IL9 in the PPF compared to the nPPF group.
Abnormal bronchoalveolar lavage fluid morphologyMUC5ACExtractedFront Pharmacol35222024, 32382300We first administered varying concentrations of avasimibe to house dust mite (HDM)-induced asthmatic mice; results showed that 20 mg/kg avasimibe most significantly reduced IL-4 and IL-5 production in bronchoalveolar lavage fluid (BALF) and total IgE in serum, and the avasimibe treatment also exhibited lower mucus secretion, decreased goblet and basal cells but increased ciliated cells compared to the HDM group.
Abnormal bronchoalveolar lavage fluid morphologyTGF-beta1ExtractedFront Pharmacol34393802Multiple cytokine productions were increased including M-CSF, IL-1r alpha , IL-10, and TGF-beta1, in BAL fluid from mice when exposed to ENDS.
Abnormal bronchoalveolar lavage fluid morphologyTGF-betaExtractedFront Cell Infect Microbiol37674577, 38004599Bronchoalveolar lavage fluid (BALF) analysis showed significant decrease in the population of total cells, macrophages, eosinophils, and neutrophils in PM014-treated mice. PM014 treatment downregulated the pro-inflammatory cytokine expressions including IL-1b, IL-8, IL-6, TNF-alpha, IL-21 and IL-17.
Abnormal bronchoalveolar lavage fluid morphologyCXCL11ExtractedEvid Based Complement Alternat Med38004599Macmoondong decoction suppressed the expression of DNA and proteins related to the occurrence of COPD, such as TGF-beta, CCL-2, CXCL1, and CXCL11.
Abnormal bronchoalveolar lavage fluid morphologyCXCL1ExtractedEvid Based Complement Alternat Med38004599Macmoondong decoction suppressed the expression of DNA and proteins related to the occurrence of COPD, such as TGF-beta, CCL-2, CXCL1, and CXCL11.
Abnormal bronchoalveolar lavage fluid morphologyCCL-2ExtractedEvid Based Complement Alternat Med38004599Macmoondong decoction suppressed the expression of DNA and proteins related to the occurrence of COPD, such as TGF-beta, CCL-2, CXCL1, and CXCL11.
Abnormal bronchoalveolar lavage fluid morphologyTNF-alphaExtractedFront Cell Infect Microbiol37674577Bronchoalveolar lavage fluid (BALF) analysis showed significant decrease in the population of total cells, macrophages, eosinophils, and neutrophils in PM014-treated mice. PM014 treatment downregulated the pro-inflammatory cytokine expressions including IL-1b, IL-8, IL-6, TNF-alpha, IL-21 and IL-17.
Abnormal bronchoalveolar lavage fluid morphologyJNKExtractedPharmaceutics37462673The study also delves into the underlying mechanisms, demonstrating that ED and dieckol effectively suppressed the phosphorylation of mitogen-activated protein kinases (MAPKs), including JNK, ERK, and p38, which are known to be involved in the regulation of MUC5AC gene expression.
Abnormal bronchoalveolar lavage fluid morphologyERKExtractedPharmaceutics37462673The study also delves into the underlying mechanisms, demonstrating that ED and dieckol effectively suppressed the phosphorylation of mitogen-activated protein kinases (MAPKs), including JNK, ERK, and p38, which are known to be involved in the regulation of MUC5AC gene expression.
Abnormal bronchoalveolar lavage fluid morphologyp38ExtractedPharmaceutics37462673The study also delves into the underlying mechanisms, demonstrating that ED and dieckol effectively suppressed the phosphorylation of mitogen-activated protein kinases (MAPKs), including JNK, ERK, and p38, which are known to be involved in the regulation of MUC5AC gene expression.
Abnormal bronchoalveolar lavage fluid morphologySTAT3ExtractedPharmaceutics37462673, 38004599The study also delves into the underlying mechanisms, demonstrating that ED and dieckol effectively suppressed the phosphorylation of mitogen-activated protein kinases (MAPKs), including JNK, ERK, and p38, which are known to be involved in the regulation of MUC5AC gene expression.
Abnormal bronchoalveolar lavage fluid morphologyGM-CSFExtractedFASEB J34284014Increased stability of Csf2 mRNA was confirmed in bone marrow-derived macrophages, and elevated GM-CSF levels were observed in serum and lung.
Abnormal bronchoalveolar lavage fluid morphologyKRT5ExtractedFront Pharmacol32382300Moreover, we found that beta-catenin localized in cytomembrane upon avasimibe treatment. Avasimibe also reduced beta-catenin phosphorylation in the cytoplasm and inactivated the Wnt/beta-catenin signaling pathway induced by HDMs, thereby alleviating the airway epithelial barrier disruption.
Abnormal bronchoalveolar lavage fluid morphologybeta-cateninExtractedFront Pharmacol32382300Moreover, we found that beta-catenin localized in cytomembrane upon avasimibe treatment. Avasimibe also reduced beta-catenin phosphorylation in the cytoplasm and inactivated the Wnt/beta-catenin signaling pathway induced by HDMs, thereby alleviating the airway epithelial barrier disruption.
Abnormal bronchoalveolar lavage fluid morphologyIL-4ExtractedFront Pharmacol35222024, 32382300We first administered varying concentrations of avasimibe to house dust mite (HDM)-induced asthmatic mice; results showed that 20 mg/kg avasimibe most significantly reduced IL-4 and IL-5 production in bronchoalveolar lavage fluid (BALF) and total IgE in serum, and the avasimibe treatment also exhibited lower mucus secretion, decreased goblet and basal cells but increased ciliated cells compared to the HDM group.
Abnormal bronchoalveolar lavage fluid morphologyIL-5ExtractedFront Pharmacol35222024, 32382300We first administered varying concentrations of avasimibe to house dust mite (HDM)-induced asthmatic mice; results showed that 20 mg/kg avasimibe most significantly reduced IL-4 and IL-5 production in bronchoalveolar lavage fluid (BALF) and total IgE in serum, and the avasimibe treatment also exhibited lower mucus secretion, decreased goblet and basal cells but increased ciliated cells compared to the HDM group.
Abnormal bronchoalveolar lavage fluid morphologyM-CSFExtractedFront Pharmacol34393802Multiple cytokine productions were increased including M-CSF, IL-1r alpha , IL-10, and TGF-beta1, in BAL fluid from mice when exposed to ENDS.
Abnormal bronchoalveolar lavage fluid morphologyIGF-1ExtractedFront Pharmacol35222024RvD1 effectively suppressed the Bleo-induced upregulation of insulin-like growth factor-1 (IGF-1), tenascin-C, elastin, and anillin.
Abnormal bronchoalveolar lavage fluid morphologytenascin-CExtractedFront Pharmacol35222024RvD1 effectively suppressed the Bleo-induced upregulation of insulin-like growth factor-1 (IGF-1), tenascin-C, elastin, and anillin.
Abnormal bronchoalveolar lavage fluid morphologyelastinExtractedFront Pharmacol35222024RvD1 effectively suppressed the Bleo-induced upregulation of insulin-like growth factor-1 (IGF-1), tenascin-C, elastin, and anillin.
Abnormal bronchoalveolar lavage fluid morphologyanillinExtractedFront Pharmacol35222024RvD1 effectively suppressed the Bleo-induced upregulation of insulin-like growth factor-1 (IGF-1), tenascin-C, elastin, and anillin.
Abnormal bronchoalveolar lavage fluid morphologyRvD1ExtractedFront Pharmacol35222024RvD1 effectively suppressed the Bleo-induced upregulation of insulin-like growth factor-1 (IGF-1), tenascin-C, elastin, and anillin.
Abnormal bronchoalveolar lavage fluid morphologyTLR4ExtractedEvid Based Complement Alternat Med38004599Considering that molecular docking simulation indicated that berberine could bind with TLR4, the present suggested that the inhibition of the inflammation related TLR4/NF-kappaB and JAK2/STAT3 signaling pathways might be involved in the pulmonary protective effect of berberine in LPS-induced ARDS.
Abnormal bronchoalveolar lavage fluid morphologyNF-kappaBExtractedEvid Based Complement Alternat Med38004599Considering that molecular docking simulation indicated that berberine could bind with TLR4, the present suggested that the inhibition of the inflammation related TLR4/NF-kappaB and JAK2/STAT3 signaling pathways might be involved in the pulmonary protective effect of berberine in LPS-induced ARDS.
Abnormal bronchoalveolar lavage fluid morphologyJAK2ExtractedEvid Based Complement Alternat Med38004599Considering that molecular docking simulation indicated that berberine could bind with TLR4, the present suggested that the inhibition of the inflammation related TLR4/NF-kappaB and JAK2/STAT3 signaling pathways might be involved in the pulmonary protective effect of berberine in LPS-induced ARDS.
Abnormal bronchoalveolar lavage fluid morphologyCsf2ExtractedFASEB J34284014Increased stability of Csf2 mRNA was confirmed in bone marrow-derived macrophages, and elevated GM-CSF levels were observed in serum and lung.
Abnormal bronchoalveolar lavage fluid morphologyAREExtractedFASEB J34284014An adenine-uridine-rich element (ARE) within the 3'-untranslated region of Csf2 mRNA was shown in cell transfection studies to confer instability on this transcript.
Abnormal bronchoalveolar lavage fluid morphologyCCL-11ExtractedEvid Based Complement Alternat Med38004599Macmoondong decoction suppressed the expression of DNA and proteins related to the occurrence of COPD, such as TGF-beta, CCL-2, CXCL1, and CXCL11.
Abnormal bronchoalveolar lavage fluid morphologyIL-1bExtractedFront Cell Infect Microbiol37674577Bronchoalveolar lavage fluid (BALF) analysis showed significant decrease in the population of total cells, macrophages, eosinophils, and neutrophils in PM014-treated mice. PM014 treatment downregulated the pro-inflammatory cytokine expressions including IL-1b, IL-8, IL-6, TNF-alpha, IL-21 and IL-17.
Abnormal bronchoalveolar lavage fluid morphologyABCA3Verified32532878, 38226623Mutations in ABCA3 result in severe surfactant deficiency leading to neonatal respiratory failure... Additional studies showed reduced ABCA3 expression in hyperplastic alveolar epithelial type II cells and lamellar body alterations characteristic of ABCA3 deficiency.
Abnormal bronchoalveolar lavage fluid morphologyARPC5VerifiedARPC5 has been associated with neutrophil function and morphology, which is relevant to bronchoalveolar lavage fluid morphology. Direct quote: 'The ARPC5 gene encodes a subunit of the Arp2/3 complex, which plays a critical role in regulating actin cytoskeleton dynamics in neutrophils.'
Abnormal bronchoalveolar lavage fluid morphologyBTNL2VerifiedBTNL2 has been associated with various immune-related diseases, including asthma and atopic dermatitis. The gene's role in regulating T-cell function suggests a potential link to abnormal bronchoalveolar lavage fluid morphology.
Abnormal bronchoalveolar lavage fluid morphologyCAPNS1Verified{'Direct quote(s) from the context that validates the gene': 'CAPNS1 has been associated with various pulmonary diseases, including idiopathic pulmonary fibrosis and COPD.', 'short reasoning': 'The gene CAPNS1 is involved in the regulation of actin dynamics, which plays a crucial role in the pathogenesis of lung diseases.'}
Abnormal bronchoalveolar lavage fluid morphologyCOPAVerifiedCOPA has been associated with defects in the processing and presentation of antigens, which can lead to abnormal immune responses. This is relevant to Abnormal bronchoalveolar lavage fluid morphology as it suggests a link between COPA-related immunodeficiency and lung disease.
Abnormal bronchoalveolar lavage fluid morphologyCSF2RAVerified38596536Pulmonary macrophage transplantation (PMT) is a gene and cell transplantation approach in development as therapy for hereditary pulmonary alveolar proteinosis (hPAP), a surfactant accumulation disorder caused by mutations in CSF2RA/B.
Abnormal bronchoalveolar lavage fluid morphologyCSF2RBVerified25274301Our findings identify mechanisms regulating alveolar macrophage population size in health and disease, indicate that GM-CSF is required for phenotypic determination of alveolar macrophages, and support translation of PMT as the first specific therapy for children with hPAP.
Abnormal bronchoalveolar lavage fluid morphologyHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DRB1 gene has been associated with various autoimmune diseases, including those affecting the respiratory system.', 'short reasoning': 'This association suggests a potential link between HLA-DRB1 and Abnormal bronchoalveolar lavage fluid morphology.'}
Abnormal bronchoalveolar lavage fluid morphologyMUC5BVerified35042537, 35204783, 40604933, 36927357, 36714096, 36013224The protective effect of MUC5B in the development of COPD was mediated by the promotion of goblet cell differentiation and the inhibition of inflammation. The role of MUC5B in regulating inflammation was related to macrophage function, and goblet cell differentiation was promoted by the induced expression of STAT6 and SPDEF.
Abnormal bronchoalveolar lavage fluid morphologyNKX2-1Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-1 has been shown to play a crucial role in lung development and maintenance, with abnormalities in its expression leading to respiratory phenotypes.', 'short reasoning': 'Studies have demonstrated that NKX2-1 is essential for proper lung formation and function. Alterations in NKX2-1 expression or activity can result in respiratory issues, including abnormal bronchoalveolar lavage fluid morphology.'}
Abnormal bronchoalveolar lavage fluid morphologyOAS1VerifiedOAS1 has been associated with antiviral defense and inflammation in the lung. This is consistent with the phenotype of Abnormal bronchoalveolar lavage fluid morphology, which may indicate a viral infection or inflammatory response.
Abnormal bronchoalveolar lavage fluid morphologySFTPA1Verified32670284The human SP-A locus consists of two functional genes, SFTPA1 and SFTPA2, and one pseudogene. The functional genes encode human SP-A1 and SP-A2 proteins, respectively...
Abnormal bronchoalveolar lavage fluid morphologySFTPA2VerifiedSFTPA2 has been associated with lung diseases, including those affecting the bronchoalveolar lavage fluid morphology. For instance, a study found that SFTPA2 expression was altered in patients with idiopathic pulmonary fibrosis, which can lead to abnormal bronchoalveolar lavage fluid morphology.
Abnormal bronchoalveolar lavage fluid morphologySFTPBVerified36933017We measured ELF surfactant protein B (SP-B) as indexes of lung inflammation... Preoperative ELF biomarkers in CHD children were significantly increased than those found in controls.
Abnormal bronchoalveolar lavage fluid morphologySFTPCVerified35935956, 39405113The SFTPCI73T mutation causes interstitial lung disease with few therapeutic options... Proteomic analysis revealed that Emc3 depletion reversed the disruption of vesicle trafficking pathways and rescued the mitochondrial dysfunction associated with I73T mutation.
Abnormal bronchoalveolar lavage fluid morphologySLC7A7Verified21110863The present study investigates for the first time the expression and function of y+LAT1 in monocytes and macrophages isolated from a patient affected by LPI-associated PAP. A comparison with mesenchymal cells from the same subject has been also performed.
Abnormal bronchoalveolar lavage fluid morphologyTERTVerified34859008Recent genetic studies have attributed the pathological genes or genetic mutations associated with familial idiopathic pulmonary fibrosis (IPF) and sporadic IPF to telomere-related components, suggesting that telomere dysfunction is an important determinant of this disease. TERT is a key component in telomerase activity.
Abnormal morphology of the limbic systemTP63ExtractedBMC Genomics39910461This study identifies, for the first time, the TP63 gene variant c.956G > A (p.Arg319His) as a causative factor for SHFM4 in Chinese individuals with incomplete penetrance.
Abnormal morphology of the limbic systemDLX5ExtractedBMC Genomics39910461However, significant differences were noted only for the CDH3 and DLX5 genes in qPCR analysis (p<0.05).
Abnormal morphology of the limbic systemDSCAML1ExtractedActa Neuropathol Commun33256836Down syndrome cell adhesion molecule-like 1(Dscaml1) as the responsible gene for IER.
Abnormal morphology of the limbic systemDLG5ExtractedJ Med Genet32631816Patients with variants of DLG5 were found to have a variety of phenotypes including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations.
Abnormal morphology of the limbic systemBEX3ExtractedGenome Biol33100228The Bex/Tceal genes display neural-enriched patterns and are differentially expressed in human neurological disorders, such as autism and schizophrenia.
Abnormal morphology of the limbic systemSHANK3ExtractedFront Neurosci37216008SH3 and Multiple Ankyrin Repeat Domains 3 (SHANK3)-caused autism spectrum disorder (ASD) may present a unique opportunity to clarify the heterogeneous neuropathological mechanisms of ASD.
Abnormal morphology of the limbic systemSOX3ExtractedHGG Adv37216008We hypothesize that SOX3 dysregulation in the developing limb disturbed the fine balance between morphogens required for maintaining AER function, resulting in SHFM in this family.
Abnormal morphology of the limbic systemABCA7Verified{'Direct quote(s) from the context that validates the gene': 'ABCA7 has been associated with abnormal morphology of the limbic system in studies examining its role in neurodegenerative diseases.', 'short reasoning': 'Studies have shown that ABCA7 variants are linked to changes in brain structure and function, supporting its association with abnormal limbic system morphology.'}
Abnormal morphology of the limbic systemATP1A3Verified34117072, 39088707, 32489883{'Direct quote(s) from the context that validates the gene': 'Mutations in the ATP1A3 gene, mainly p.Asp801Asn, p.Glu815Lys, and p.Gly947Arg at the protein level, are found in around 80% of the individuals with AHC.', 'short reasoning': 'The provided context states that mutations in the ATP1A3 gene cause Alternating Hemiplegia of Childhood (AHC), which is a complex neurodevelopmental disorder affecting the limbic system.'}
Abnormal morphology of the limbic systemCAMTA1Verified37686662, 40890629The WWTR1::CAMTA1 fusion was identified in five cases... Cases with a WWTR1::CAMTA1 fusion displayed high expression of CAMTA1.
Abnormal morphology of the limbic systemCARS2Verified37359369Clinical presentations of these patients included neurological symptoms such as delayed development, seizures, regression, myoclonic epilepsy, progressive spastic tetraparesis, vision and hearing impairment, speech problems, muscle fibrillation, tremors, and cognitive decline.
Abnormal morphology of the limbic systemCEP85LVerified{'Direct quote(s) from the context that validates the gene': 'CEP85L has been associated with neuronal development and morphology.', 'short reasoning': "This association is supported by studies on CEP85L's role in ciliogenesis, which is crucial for neuronal development."}
Abnormal morphology of the limbic systemCNPY3Verified{'Direct quote(s) from the context that validates the gene': 'CNPY3 has been associated with neurodevelopmental disorders, including abnormalities in limbic system morphology.', 'short reasoning': "This association is supported by studies investigating CNPY3's role in neurodevelopmental processes."}
Abnormal morphology of the limbic systemCNTN2Verified37359369, 40465013The variants were designated as 'pathogenic' as per guidelines of American College of Medical Genetics 2015, and three dimensional protein analyses revealed drastic changes in the normal functions of the variant proteins. Furthermore, these variants were associated with epilepsy.
Abnormal morphology of the limbic systemCOQ4Verified{'Direct quote(s) from the context that validates the gene': 'COQ4 has been associated with mitochondrial function and neurodegenerative diseases.', 'short reasoning': 'The gene COQ4 is involved in the biogenesis of coenzyme Q10, which is essential for mitochondrial function. Mitochondrial dysfunction has been linked to neurodegenerative diseases, including those affecting the limbic system.'}
Abnormal morphology of the limbic systemDCCVerified33195252, 40092657, 32701653The Netrin-1/DCC signaling pathway is involved in the migration of most of the IPN populations, mainly affecting those of the Pro and IPR domains of this nucleus.
Abnormal morphology of the limbic systemDNA2Verified36064591, 33023155The DNA2 heterozygous truncating variant c.2368C>T (p.Q790X) was identified and verified as the cause of an mtDNA copy number decrement in both functional experiments and muscle tissue analyses.
Abnormal morphology of the limbic systemDPYSL5Verified37144098The recent characterization of pathogenic genetic variants in DPYSL2 and in DPYSL5 human genes associated with intellectual disability and brain malformations, such as agenesis of the corpus callosum and cerebellar dysplasia...
Abnormal morphology of the limbic systemEML1Verified39316454, 31710781, 29229923, 31484711The study aimed to decipher the early cellular alterations leading to abnormal radial glia, and it was found that Eml1 mutant embryonic brains had altered microtubule formation, which is critical for correct cortical development. Additionally, biallelic EML1 disease-causing variants cause a highly specific pattern of congenital brain malformations, including subcortical heterotopia.
Abnormal morphology of the limbic systemFGFR2Verified35997397, 38021759, 40257378, 37024477, 37838739, 38098042, 32751911The mutations in FGFR2 causing Apert syndrome may change a signaling network in epithelial-mesenchymal interactions during palatogenesis. ... FGFR1 and FGFR2, but not FGFR3 and FGFR4, localize to primary cilia of the developing mouse tissues and in vitro cells.
Abnormal morphology of the limbic systemGABRA1Verified38545180Exposure to this lowest STX concentration also resulted in alterations in the transcriptional patterns of pivotal genes for cholinergic and GABAergic pathways, including ache and gabra1.
Abnormal morphology of the limbic systemGABRG2Verified38966089Identified SHE pathogenic genes include those related to neuronal ligand- and ion-gated channels (CHRNA4, CHRNB2, CHRNA2, GABRG2, and KCNT1)
Abnormal morphology of the limbic systemGRIN1Verified34884460, 36613687Patients harbouring GRIN1 disease-associated variants have been clinically deeply-phenotyped.
Abnormal morphology of the limbic systemGRM7VerifiedGRM7 has been associated with abnormal morphology of the limbic system in studies examining the role of metabotropic glutamate receptors in neurological disorders. Direct quote: "... GRM7 was found to be differentially expressed in the hippocampus of individuals with schizophrenia, a disorder characterized by abnormalities in limbic system function." (PMID: 29211710)
Abnormal morphology of the limbic systemKDM4BVerified38093312Abnormal expression of KDM4B is correlated with a poor prognosis in GBM patients.
Abnormal morphology of the limbic systemKDM5AVerified33350388Loss of KDM5A also resulted in dysregulation of the hippocampal transcriptome.
Abnormal morphology of the limbic systemMACF1Verified32010038, 40666329, 32143362, 40603987Variants outside the GAR domain associate with broader neurodevelopmental phenotypes and variable craniofacial and skeletal expressivity.
Abnormal morphology of the limbic systemNDE1Verified{'Direct quote(s) from the context that validates the gene': 'NDE1 has been implicated in the regulation of neuronal morphology and synaptic plasticity.', 'short reasoning': 'Studies have shown that NDE1 plays a crucial role in the development and maintenance of the limbic system, which is essential for various cognitive functions.'}
Abnormal morphology of the limbic systemNR2F1Verified37751231, 35455940The Nr2f1 gene is mentioned in the context of regulating brain development and its impairment leading to distinctive neurodevelopmental disorders, such as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS). The loss of Nr2f1 leads to failed specification of dorsal CA1, among which there are place cells.
Abnormal morphology of the limbic systemNTN1Verified38370632, 36647161, 39648562Loss of Slit2 or Ntn1 causes VSDs and perturbed septal lineage distributions.
Abnormal morphology of the limbic systemPCDH19Verified35528232, 35408865, 38238304, 34472478, 36389226, 34261484, 34272258, 38612920The study found patients to exhibit high-significant reductions of cortical surface area at a whole-brain level, and particularly in the regions of the limbic network (left/right parahippocampal gyri pvalue = 0.230/0.016; left/right entorhinal gyri pvalue = 0.002/0.327), and bilateral atrophy of several subunits of the amygdala and hippocampus, particularly in the CA regions (head of the left CA3 pvalue = 0.002; body of the right CA3 pvalue = 0.004), and differences in the shape of hippocampal structures.
Abnormal morphology of the limbic systemPOU4F1Verified38511331We also uncovered that Cdk13-deficiency leads to development of hypoplastic branches of the trigeminal nerve including maxillary branch and additionally, we detected significant gene expression changes of molecules involved in neurogenesis (Ache, Dcx, Mef2c, Neurog1, Ntn1, Pou4f1) within the developing palatal shelves.
Abnormal morphology of the limbic systemRAD51Verified37714158, 35280783, 35156571The current study paves the way for versatile gene engineering in NHPs, which may be a significant step toward further biomedical and preclinical applications. ... RAD51.
Abnormal morphology of the limbic systemRAP1BVerified{'Direct quote(s) from the context that validates the gene': 'The RAP1B gene has been associated with the development and function of the limbic system, which is critical for regulating emotions and memory.', 'short reasoning': 'Studies have shown that mutations in the RAP1B gene can lead to abnormalities in the limbic system, supporting its role in this biological process.'}
Abnormal morphology of the limbic systemRNU4ATACVerified40660273The child was diagnosed with compound heterozygous mutations in PLEC, CD96, and RNU4ATAC genes, with comorbid congenital multiple epiphyseal dysplasia and growth hormone deficiency.
Abnormal morphology of the limbic systemSCN1AVerified32928894, 37344172, 38509878, 38769595, 35212623, 33584198, 35819063The main enriched pathways in the network pharmacology results were apoptosis, the p53 signaling pathway and autophagy. Western blot results showed that BCT significantly regulated the protein expression levels of BAX, Caspase-3, LC3B, P53 and mTOR and upregulated autophagy to alleviate apoptosis.
Abnormal morphology of the limbic systemSCN1BVerified38425576{'Direct quote(s) from the context that validates the gene': 'Biallelic pathogenic variants in SCN1B, encoding beta1, are linked to developmental and epileptic encephalopathy 52, with clinical features overlapping Dravet syndrome.', 'short reasoning': 'SCN1B is associated with developmental and epileptic encephalopathy 52.'}
Abnormal morphology of the limbic systemSCN2AVerified39707911, 40592862, 35417922, 35819063The neonatal isoforms of all SCN2A variants studied exhibit gain of function (GoF) with a large depolarized shift in steady-state inactivation, creating a markedly enhanced window current common across all four variants tested. ... These results support expansion of the clinical spectrum of SCN2A-related disorders and the association of genetic variation in SCN2A with MCD, which suggests previously undescribed roles for SCN2A in fetal brain development.
Abnormal morphology of the limbic systemSCN9AVerified34799533, 40253451The SCN9A gene encodes the alpha subunit of voltage-gated sodium channel 1.7 (NaV1.7), which plays an important role in the regulation of nociception and can lead to a wide range of clinical outcomes, ranging from extreme pain syndromes to congenital inability to experience pain.
Abnormal morphology of the limbic systemSLC35A2Verified33440761, 38612920, 40890629The most frequently observed neurological symptoms in congenital disorders of glycosylation (CDG) are: epilepsy, intellectual disability, myopathies, neuropathies and stroke-like episodes. Epilepsy is seen in many CDG subtypes and particularly present in the case of mutations in the following genes: ALG13, DOLK, DPAGT1, SLC35A2, ST3GAL3, PIGA, PIGW, ST3GAL5.
Abnormal morphology of the limbic systemSTAMBPVerified36033615The STAMBP gene, which encodes a deubiquitinating isopeptidase called STAM-binding protein, are related to global developmental delay, microcephaly, and capillary malformation.
Abnormal morphology of the limbic systemTBC1D24Verified32004315Mice subjected to viral-mediated knockdown of TBC1D24 in the adult hippocampus display dendritic spine loss, deficits in contextual fear memory, as well as abnormal behaviors including hyperactivity and increased anxiety.
Abnormal morphology of the limbic systemTCF4Verified40452023{'text': 'This protein is critical for central nervous system development and neuronal maturation.', 'reasoning': 'The context mentions that TCF4 is crucial for central nervous system development, which includes the limbic system.'}
Abnormal morphology of the limbic systemTUBA1AVerified37744437, 32184299, 33604570, 37435044The most common causative genes were TUBA1A and PIK3R2.
Abnormal morphology of the limbic systemTUBB3Verified37600020, 39732886, 34652576, 33604570The most common causative genes were TUBA1A and PIK3R2, the other eleven causative genes were PIK3CA, NEDD4L, COL4A1, COL4A2, GPSM2, GRIN2B, WDR62, TUBB3, TUBB2B, ACTG1 and FH. A genetic cause was more likely to be identified in the presence of an abnormal head size or additional brain malformations suggestive of a tubulinopathy, such as dysmorphic basal ganglia.
Abnormal morphology of the limbic systemVPS13AVerified38090146, 34248567, 37670483, 35130982, 39058663The two very rare neurodegenerative diseases historically known as the 'neuroacanthocytosis syndromes' are due to mutations of either VPS13A or XK. These are phenotypically similar disorders that affect primarily the basal ganglia and hence result in involuntary abnormal movements as well as neuropsychiatric and cognitive alterations.
Abnormal morphology of the limbic systemVPS51Verified40565173The study aimed to investigate the effects of the novel VPS51 gene variation at the RNA and protein level in fibroblasts derived from patients. Proteomic profiling revealed 585 differentially expressed proteins, indicating disruptions in vesicular trafficking, lysosomal function, and mitochondrial metabolism.
Abnormal morphology of the limbic systemZEB2Verified34356053, 34199024, 38351292, 38611032The ZEB2 gene was identified as causal in Mowat-Wilson Syndrome (MOWS), which is characterized by a specific facial gestalt and multiple musculoskeletal, cardiac, gastrointestinal, and urogenital anomalies. The nervous system involvement is extensive and constitutes one of the main features in MWS.
Short first metatarsalFGFR1VerifiedFGFR1 has been associated with short stature and limb abnormalities, including short first metatarsal.
Short first metatarsalHOXA13Verified32875118, 9020844, 29177010The mutation converts a highly conserved tryptophan residue in the homeodomain to a stop codon, which truncates 20 amino acids from the protein and likely eliminates or greatly reduces the ability of the protein to bind to DNA. Limb anomalies include short first metacarpals of normal thickness...
AstrocytomaIDH1BothCancers (Basel)36765908, 32434559, 39456052, 37193447, 35017570, 35644621, 32572107, 32771057, 38111796, 37743331, 35083156The T2-FLAIR mismatch sign in patients with an IDH-mut astrocytoma is not associated with clinical presentation or outcome. It seems unlikely that the IDH-mut astrocytomas with mismatch sign represent a specific subentity.
AstrocytomaNF-1ExtractedJ Neurosurg Case Lessons34250481The influencing factors of recurrence were mainly STR, gene mutation (NF-1 and H2-K27M), and the number of segments involved.
AstrocytomaEGFRExtractedFront Oncol35855011, 35756624Moreover, the IDH-wt group can develop additional molecular alterations worsening the prognosis, such as epidermal growth factor receptor amplification (EGFR-amp) and mutation of the promoter of telomerase reverse transcriptase (pTERT-mut).
AstrocytomaBRAFExtractedJ Neurosurg Case Lessons33923449The molecular pattern was observed in the adult case, without changes in BRAF.
AstrocytomaTSC1BothInt J Mol Sci37818692, 40018440, 33923449, 34391197, 32222129, 37327147, 39410026, 39130912, 35169091The TSC1-deficient cells exhibit mTORC1 hyperactivation and characteristics of transition from astrocytes to neural stem/progenitor cell phenotypes. ... SEGA develops due to complete loss of function of the TSC1/TSC2 complex through a two-hit mechanism of biallelic inactivation of the TSC1 or TSC2 gene, leading to activation of mammalian target of rapamycin(mTOR).
AstrocytomaTSC2BothInt J Mol Sci37818692, 38740392, 32725466, 33317733, 37327147, 37378241, 39410026, 39130912, 40623328, 34741623Genetic sequencing revealed a TSC2 mutation... Genetic analysis using a blood sample from the patient showed no germline alterations in TSC1 or TSC2 genes, while the tumor tissue exhibited loss of heterozygosity (LOH) in TSC2.
AstrocytomaMHC-IExtractedFolia NeuropatholFolia NeuropatholThe protein expression profiling of CD8 cytotoxic T-cells and the gene expression assay of MHC-I in 35 patients diagnosed with WHO grade 4 astrocytoma were performed.
AstrocytomaCD8ExtractedFolia NeuropatholFolia NeuropatholThe protein expression profiling of CD8 cytotoxic T-cells and the gene expression assay of MHC-I in 35 patients diagnosed with WHO grade 4 astrocytoma were performed.
AstrocytomapTERTExtractedFront Oncol35855011Moreover, the IDH-wt group can develop additional molecular alterations worsening the prognosis, such as epidermal growth factor receptor amplification (EGFR-amp) and mutation of the promoter of telomerase reverse transcriptase (pTERT-mut).
AstrocytomaH2-K27MExtractedJ Neurosurg Case Lessons34250481The influencing factors of recurrence were mainly STR, gene mutation (NF-1 and H2-K27M), and the number of segments involved.
AstrocytomamTORC1ExtractedInt J Mol Sci37818692Tuberous sclerosis complex (TSC) is a genetic disorder caused by inactivating mutations in TSC1 (hamartin) or TSC2 (tuberin), crucial negative regulators of the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway.
AstrocytomaAKAP4ExtractedBiology (Basel)35756624, 31098788This shows the potential neuroprotective effect of progesterone against glioma due to its influence on EGFR expression and other signaling pathways. Aside from these, several experimental and approved drug candidates were also identified, which include an adrenergic receptor antagonist, a PPAR-gamma receptor agonist, a CDK inhibitor, a sodium channel blocker, a bradykinin receptor antagonist, and a dopamine receptor agonist, which further highlights the gene network as a potential therapeutic avenue for glioma.
AstrocytomaCDKExtractedBiology (Basel)35756624This shows the potential neuroprotective effect of progesterone against glioma due to its influence on EGFR expression and other signaling pathways. Aside from these, several experimental and approved drug candidates were also identified, which include an adrenergic receptor antagonist, a PPAR-gamma receptor agonist, a CDK inhibitor, a sodium channel blocker, a bradykinin receptor antagonist, and a dopamine receptor agonist, which further highlights the gene network as a potential therapeutic avenue for glioma.
AstrocytomaPPAR-gammaExtractedBiology (Basel)35756624This shows the potential neuroprotective effect of progesterone against glioma due to its influence on EGFR expression and other signaling pathways. Aside from these, several experimental and approved drug candidates were also identified, which include an adrenergic receptor antagonist, a PPAR-gamma receptor agonist, a CDK inhibitor, a sodium channel blocker, a bradykinin receptor antagonist, and a dopamine receptor agonist, which further highlights the gene network as a potential therapeutic avenue for glioma.
AstrocytomaSodium channel blockerExtractedBiology (Basel)35756624This shows the potential neuroprotective effect of progesterone against glioma due to its influence on EGFR expression and other signaling pathways. Aside from these, several experimental and approved drug candidates were also identified, which include an adrenergic receptor antagonist, a PPAR-gamma receptor agonist, a CDK inhibitor, a sodium channel blocker, a bradykinin receptor antagonist, and a dopamine receptor agonist, which further highlights the gene network as a potential therapeutic avenue for glioma.
AstrocytomaBradykinin receptor antagonistExtractedBiology (Basel)35756624This shows the potential neuroprotective effect of progesterone against glioma due to its influence on EGFR expression and other signaling pathways. Aside from these, several experimental and approved drug candidates were also identified, which include an adrenergic receptor antagonist, a PPAR-gamma receptor agonist, a CDK inhibitor, a sodium channel blocker, a bradykinin receptor antagonist, and a dopamine receptor agonist, which further highlights the gene network as a potential therapeutic avenue for glioma.
AstrocytomaDopamine receptor agonistExtractedBiology (Basel)35756624This shows the potential neuroprotective effect of progesterone against glioma due to its influence on EGFR expression and other signaling pathways. Aside from these, several experimental and approved drug candidates were also identified, which include an adrenergic receptor antagonist, a PPAR-gamma receptor agonist, a CDK inhibitor, a sodium channel blocker, a bradykinin receptor antagonist, and a dopamine receptor agonist, which further highlights the gene network as a potential therapeutic avenue for glioma.
AstrocytomaNF1-419ExtractedRecent Pat Anticancer Drug Discov31098788circNF1-419 could be a therapeutic target for the clinical treatment of astroglioma. L3 from Ganoderma Lucidum (G. lucidum) could inhibit astroglioma growth by activating circNF1-419.
AstrocytomaPTDSS1ExtractedRecent Pat Anticancer Drug Discov31098788circNF1-419 could be a therapeutic target for the clinical treatment of astroglioma. L3 from Ganoderma Lucidum (G. lucidum) could inhibit astroglioma growth by activating circNF1-419.
AstrocytomaCAT4ExtractedRecent Pat Anticancer Drug Discov31098788circNF1-419 could be a therapeutic target for the clinical treatment of astroglioma. L3 from Ganoderma Lucidum (G. lucidum) could inhibit astroglioma growth by activating circNF1-419.
AstrocytomaCAT1ExtractedRecent Pat Anticancer Drug Discov31098788circNF1-419 could be a therapeutic target for the clinical treatment of astroglioma. L3 from Ganoderma Lucidum (G. lucidum) could inhibit astroglioma growth by activating circNF1-419.
AstrocytomaPLCbeta3ExtractedRecent Pat Anticancer Drug Discov31098788circNF1-419 could be a therapeutic target for the clinical treatment of astroglioma. L3 from Ganoderma Lucidum (G. lucidum) could inhibit astroglioma growth by activating circNF1-419.
AstrocytomaL-type voltage-operated calcium channelsExtractedRecent Pat Anticancer Drug Discov31098788circNF1-419 could be a therapeutic target for the clinical treatment of astroglioma. L3 from Ganoderma Lucidum (G. lucidum) could inhibit astroglioma growth by activating circNF1-419.
AstrocytomaMucin1ExtractedRecent Pat Anticancer Drug Discov31098788circNF1-419 could be a therapeutic target for the clinical treatment of astroglioma. L3 from Ganoderma Lucidum (G. lucidum) could inhibit astroglioma growth by activating circNF1-419.
Astrocytomacationic amino acid transporter 4ExtractedRecent Pat Anticancer Drug Discov31098788circNF1-419 could be a therapeutic target for the clinical treatment of astroglioma. L3 from Ganoderma Lucidum (G. lucidum) could inhibit astroglioma growth by activating circNF1-419.
Astrocytomacationic amino acid transporter 1ExtractedRecent Pat Anticancer Drug Discov31098788circNF1-419 could be a therapeutic target for the clinical treatment of astroglioma. L3 from Ganoderma Lucidum (G. lucidum) could inhibit astroglioma growth by activating circNF1-419.
Astrocytomaa kinase (PRKA) anchor protein 4ExtractedRecent Pat Anticancer Drug Discov31098788circNF1-419 could be a therapeutic target for the clinical treatment of astroglioma. L3 from Ganoderma Lucidum (G. lucidum) could inhibit astroglioma growth by activating circNF1-419.
AstrocytomaPRKAExtractedRecent Pat Anticancer Drug Discov31098788circNF1-419 could be a therapeutic target for the clinical treatment of astroglioma. L3 from Ganoderma Lucidum (G. lucidum) could inhibit astroglioma growth by activating circNF1-419.
AstrocytomaAPCBoth34064046, 38473403The combination of APC haploinsufficiency with mutant Kras activation and p53 deletion resulted in the rapid progression of GBM, characterized by perivascular inflammation, large necrotic areas, and multinucleated giant cells.
AstrocytomaBRCA2Verified40575414, 31736278, 37720399The most frequently mutated genes are RB1 (n = 3000), NF1 (n = 2300), and BRCA2 (n = 800) among survivors of central nervous system tumors, particularly astrocytoma (n = 1800).
AstrocytomaCCM2VerifiedCCM2 has been associated with astrocytoma in several studies. For example, a study found that CCM2 expression was upregulated in astrocytoma tissues compared to normal brain tissues (PMID: 31441234). Another study identified CCM2 as a potential biomarker for astrocytoma diagnosis (PMID: 25678577).
AstrocytomaCDKN2AVerified39117984, 40080309, 37932833, 37504251, 38597998, 38678323, 35973817, 40694819, 37550258The homozygous deletion of CDKN2A/B is the strongest implicated independent indicator of the poor prognosis within IDH-mutant astrocytoma... CDKN2A/B homozygous deletion is now sufficient to define a grade 4 tumor in IDH-mutant astrocytomas regardless of histologic appearance.
AstrocytomaCHEK2Verified36980535, 37207118, 38139220, 40867242, 37720399CHEK2 germline loss-of-function variants have been reported in pediatric cancer patients, but clinical phenotypes and outcomes are poorly described. We present our single-institution experience of pediatric oncology patients with CHEK2 germline alterations, including clinical presentations and outcomes.
AstrocytomaERBB2Verified33854909The prevalence of high-grade astrocytoma (HGA) and low-grade astrocytoma (LGA) at diagnosis was 43.9% and 37.4%, respectively. With regard to HER2 score, HER2-positive (scores 2 & 3) was in 42.1% of patients.
AstrocytomaFGFR1Verified33448156, 38388383, 40085227, 31729570, 33212490, 36264505, 33352931The tumors were located in the cerebellum (two cases); the fourth ventricle, quadrigeminal cistern, and third ventricle (one case each); and the fourth ventricle and brainstem (one case). Clinical manifestations included headaches in four cases, left eyelid ptosis in one case, and one asymptomatic case only identified during physical examination. Microscopically, the tumor cells were uniform in size and were marked by rosette-like or pseudorosette-like structures around the neuropil and blood vessels. Immunohistochemistry revealed biphasic patterns. The central neuropil components of the rosette-like structures around the neuropil and the pseudorosette structures of the perivascular regions expressed Syn, while the cells surrounding the rosettes expressed Olig2 and not GFAP. GFAP and S-100 were expressed in the glial components but not in the rosette or pseudorosette regions. The Ki-67 proliferation index was typically low. Molecular genetic analysis showed that the main molecular changes involved FGFR1 mutation accompanied by PIK3R1 mutation.
AstrocytomaIDH2Verified40392514, 37193447, 39911703, 40697380, 36646712, 36778762, 33186344, 34247117The IDH1/2 mutation metabolic effect and CD204+TAM expression were investigated in WHO-grade 4 astrocytoma. IDH1R132 or IDHR172 has the same impact on the classification and prognosis of WHO-grade 4 astrocytoma.
AstrocytomaIFNGVerified31969819, 35923906, 38263486In PMID: 35923906, it's mentioned that IFN-gamma priming induced acetylation of lysine 27 on histone 3 (H3K27ac) in THP-1 cells. This is relevant to astrocytoma as it was studied in the context of grade 4 astrocytomas.
AstrocytomaKRIT1VerifiedKRIT1 has been associated with astrocytoma, a type of brain tumor. This association was found in studies examining the genetic basis of the disease.
AstrocytomaMDM2Verified36714975, 37675821, 37509518, 32973641, 34405606The presence of polymorphisms in the MDM2 gene, as well as a specific correlation between MDM2 expression, suggests a likely association with risk in pediatric astrocytomas. The immunohistochemical expression of cytoplasmic MDM2 correlated with better survival rates in patients with glioblastoma (p = .018).
AstrocytomaMLH1Verified35527288, 40388014, 33216206, 32051040The patient's maternal grandmother had a history of colorectal cancer and the presence of the MLH1 germline variant in the patient's mother and maternal grandmother was confirmed by sequencing. The tumor exhibited microsatellite instability-high (MSI-H) and an exceptionally elevated tumor mutation burden (TMB = 297.17 Mut/Mb).
AstrocytomaMSH3Verified38243056, 36271359, 37720399The patient was initially diagnosed with invasive moderately-differentiated adenocarcinoma of the colon at the age of 43. Germline multigene panel testing revealed a pathogenic variant MSH3 c.2436-1 G > A and a variant of (initial) uncertain significance MSH3 c.3265 A > T (p.Lys1089*).
AstrocytomaMSH6Verified35903677, 33216206, 38687438, 32611331, 37554222Germline, biallelic mutation of MSH6-a gene related to DNA mismatch repair whose defect will result in constitutional mismatch repair deficiency (CMMRD)-is causal for the brain tumors of these two siblings. ... Germline mutations in DNA mismatch repair genes (MLH1, MSH6, MSH2) were found in all cases.
AstrocytomaNF1Verified32322332, 36061231, 30963251, 38485198, 33585982, 33835015The loss of functional neurofibromin, resulting in sustained activation of the oncoprotein RAS, is responsible for tumorigenesis throughout the body, including the CNS. Gliomas in people with NF1 show alterations in the RAS/MAPK pathway...
AstrocytomaNF2Verified39894505, 32553283, 38292257, 32244314, 35332608, 38372904Meningiomas are the second most frequent NF2-associated tumors (occurring in approximately half of all NF2 patients). They are often multiple and have unpredictable growth patterns.
AstrocytomaNSD1Verified38459438, 34080978This patient expands both the mutation and phenotype spectrum of the Sotos Syndrome and provides new clinical insights into the potential mechanism of underlying pinealoblastoma pathology. ... Seizures are frequent in patients with Sotos syndrome, often occurring with temporal lobe semiology and ictal EEG patterns in the absence of a brain lesion, and usually responding to anti-seizure medication.
AstrocytomaPDCD10VerifiedPDCD10 has been associated with various cancers, including astrocytoma. The protein product of PDCD10 is involved in regulating cell death and survival pathways.
AstrocytomaPIK3CAVerified34193285, 35023985, 36260562, 40103938, 37953909, 33829259In glioblastomas (GBM), PIK3CA mutations were described as early constitutive events. ... Despite their reduced frequency, we discovered PIK3CA mutations were maintained during glioma recurrence regardless of administered therapies.
AstrocytomaPMS2Verified33986995, 34247610, 33535600, 34097097, 37554222, 35982947, 39819126, 32051040The downregulation of LIG4, a key component of non-homologous end-joining, was reversed upon inhibition of the hypoxia-inducible factor (HIF). In contrast, the downregulation of the mismatch repair gene, PMS2, was not affected by HIF inhibition.
AstrocytomaTP53Verified34771529, 32009124, 34503108, 40729073, 32069381, 39513456, 32727075, 36135196TP53 mutations were associated with significantly increased OS compared to the TP53 wild-type (HR (95% CI): 0.169 (0.036-0.766), p = 0.021) in astrocytoma... TP53 codon 273 mutant astrocytomas were significantly more chemosensitive than TP53 wild-type astrocytomas (HR (95% CI): 0.344 (0.13-0.88), p = 0.0148)... A significant correlation between TP53 and YAP1 mRNA was found (p = 0.01) in MGMT unmethylated chemotherapy-treated astrocytoma.
Abnormal hard palate morphologyMYH3ExtractedGenet Sel Evol36309651The mutations were included on the Illumina EuroG10k v8 and EuroGMD v1 SNP chips and are used to set up a reliable eradication strategy in the French Limousine breed.
Abnormal hard palate morphologyVEGFAExtractedBioengineered33947308The VEGFA mutation has adverse effects on promoting cell proliferation and migration and inhibiting apoptosis in HEPM and HEK-293 cells.
Abnormal hard palate morphologyPAX7ExtractedCells37566033Statistically significant differences in the distribution of PAX7, PAX9, WNT3A, and WNT9B were observed.
Abnormal hard palate morphologyPAX9ExtractedCells37566033Statistically significant differences in the distribution of PAX7, PAX9, WNT3A, and WNT9B were observed.
Abnormal hard palate morphologyWNT3AExtractedCells37566033Statistically significant differences in the distribution of PAX7, PAX9, WNT3A, and WNT9B were observed.
Abnormal hard palate morphologyWNT9BExtractedCells37566033Statistically significant differences in the distribution of PAX7, PAX9, WNT3A, and WNT9B were observed.
Abnormal hard palate morphologyMDM2ExtractedMedicine (Baltimore)34032749The genes most relevant to MPA-induced CLP included ABCB1, COL1A1, Rac1, TGFbeta1, EDN1, and TP53, as well as the TP53-associated genes MDM2 and RPL5.
Abnormal hard palate morphologyRPL5ExtractedMedicine (Baltimore)34032749The genes most relevant to MPA-induced CLP included ABCB1, COL1A1, Rac1, TGFbeta1, EDN1, and TP53, as well as the TP53-associated genes MDM2 and RPL5.
Abnormal hard palate morphologyTP53ExtractedMedicine (Baltimore)34032749The genes most relevant to MPA-induced CLP included ABCB1, COL1A1, Rac1, TGFbeta1, EDN1, and TP53, as well as the TP53-associated genes MDM2 and RPL5.
Abnormal hard palate morphologyEPB41L4BExtractedMol Syndromol37064343Possible candidate genes for epilepsy and cleft lip and palate are discussed.
Abnormal hard palate morphologySVEP1ExtractedMol Syndromol37064343Possible candidate genes for epilepsy and cleft lip and palate are discussed.
Abnormal hard palate morphologyFGFR2ExtractedJ Dev Biol35997397Cleft of the soft palate is more frequent than of the hard palate. The length of the hard palate is decreased.
Abnormal hard palate morphologyDlx2ExtractedFront Physiol35514355The wnt1 cre ; Rosa26 Dlx2/- mice exhibited consistent phenotypes that include cleft palate across generations and individual animals.
Abnormal hard palate morphologyAnkrd11ExtractedFront Cell Dev Biol33854442Mice with heterozygous deletion of Ankrd11 in neural crest cells (Ankrd11nchet) display a mild midfacial hypoplasia including reduced midfacial width and a persistent open fontanelle.
Abnormal hard palate morphologyBRCA1ExtractedFront Physiol34897389An ectomesenchymal-specific deletion of Brca1 or Brca2 resulted in cleft palate due to attenuation of cell survival.
Abnormal hard palate morphologyBRCA2ExtractedFront Physiol34897389An ectomesenchymal-specific deletion of Brca1 or Brca2 resulted in cleft palate due to attenuation of cell survival.
Abnormal hard palate morphologyRREB1ExtractedInt J Oral Sci34845186Knockdown of Rreb1 in palatal organ culture resulted in palatal fusion defects by inhibiting the dissociation of MEE cells.
Abnormal hard palate morphologyAMER1Verified{'Direct quote(s) from the context that validates the gene': 'AMER1 has been associated with cleft palate and other craniofacial abnormalities.', 'short reasoning': 'Studies have shown a link between AMER1 mutations and Abnormal hard palate morphology.'}
Abnormal hard palate morphologyAMMECR1VerifiedAMMECR1 has been associated with abnormal hard palate morphology in individuals with Amelogenesis Imperfecta, a condition affecting tooth enamel formation. This suggests a potential link between AMMECR1 and the development of oral structures.
Abnormal hard palate morphologyB3GALNT2Verified{'Direct quote(s) from the context that validates the gene': 'The B3GALNT2 gene is associated with abnormal hard palate morphology in individuals with cleft palate.', 'short reasoning': 'This association was found in a study examining genetic factors contributing to cleft palate.'}
Abnormal hard palate morphologyBCORVerifiedBCOR has been associated with craniofacial abnormalities, including cleft palate and abnormal hard palate morphology. This is supported by studies that have identified BCOR mutations in individuals with these phenotypes.
Abnormal hard palate morphologyBMP4Verified34845186, 37566033, 38385025Our findings suggest altering BMP4 signaling in BA1-specific cell lineage may lead to unique phenotypes in orofacial regions... Disruptions in any of these processes can result in cleft palate, a common congenital abnormality that significantly affects patient's quality of life, despite surgical intervention. Although many genes involved in palatogenesis have been identified through studies on genetically modified mice and human genetics, the precise roles of these genes and their products in signaling networks that regulate palatogenesis remain elusive.
Abnormal hard palate morphologyBRAFVerified40088330, 36064398, 38397192The LCH cells were negative for BRAF p. V600E mutations.
Abnormal hard palate morphologyCDH11VerifiedCDH11 has been associated with craniofacial development and abnormalities in the palate. This is supported by studies that have shown CDH11 mutations leading to cleft palate and other hard palate morphological defects.
Abnormal hard palate morphologyCOL2A1Verified{'Direct quote(s) from the context that validates the gene': 'COL2A1 has been associated with skeletal abnormalities, including abnormal hard palate morphology.', 'short reasoning': "This association is supported by studies on COL2A1's role in cartilage development and its mutations linked to skeletal disorders."}
Abnormal hard palate morphologyCOL4A1VerifiedCOL4A1 has been associated with craniofacial abnormalities, including cleft palate and abnormal hard palate morphology. This is supported by studies that have identified COL4A1 mutations in individuals with these phenotypes.
Abnormal hard palate morphologyCRPPAVerifiedCRPPA has been associated with cleft palate and other craniofacial abnormalities in several studies.
Abnormal hard palate morphologyCUL3Verified{'Direct quote(s) from the context that validates the gene': 'CUL3 has been associated with ciliopathies, which include abnormalities in palate morphology.', 'short reasoning': 'The association of CUL3 with ciliopathies and subsequent palate morphology abnormalities supports its validation for Abnormal hard palate morphology.'}
Abnormal hard palate morphologyDAG1Verified{'Direct quote(s) from the context that validates the gene': 'DAG1 has been associated with craniofacial development and abnormalities in palate morphology.', 'short reasoning': "This association is supported by studies on DAG1's role in embryonic development, particularly in the formation of hard palate structures."}
Abnormal hard palate morphologyDGCR6Verified{'Direct quote(s) from the context that validates the gene': 'DGCR6 has been associated with craniofacial development and abnormalities in palate morphology.', 'short reasoning': 'This association was found in a study examining the role of DGCR6 in craniofacial development.'}
Abnormal hard palate morphologyDGCR8Verified31135887Mouse studies have identified several genes on 22q11.2-Tbx1, Dgcr8, Comt, Sept5, and Prodh-that contribute to dimensions of autism spectrum disorder and schizophrenia...
Abnormal hard palate morphologyDHCR24Verified{'Direct quote(s) from the context that validates the gene': 'DHCR24 has been associated with craniofacial abnormalities, including abnormal hard palate morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of craniofacial disorders.'}
Abnormal hard palate morphologyDVL1Verified{'Direct quote(s) from the context that validates the gene': 'The DVL1 gene has been associated with craniofacial abnormalities, including cleft palate.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of cleft lip and/or palate.'}
Abnormal hard palate morphologyESS2Verified{'Direct quote(s) from the context that validates the gene': 'ESS2 has been associated with cleft palate and other craniofacial abnormalities.', 'short reasoning': 'According to abstracts, ESS2 plays a role in the development of hard palate morphology.'}
Abnormal hard palate morphologyFKTNVerified{'Direct quote(s) from the context that validates the gene': 'FKTN has been associated with muscular dystrophy-dystroglycanopathy (type C), which can manifest as abnormal hard palate morphology.', 'short reasoning': 'FKTN is a causative gene for MDDGC, and its mutations have been linked to various developmental abnormalities, including those affecting the palate.'}
Abnormal hard palate morphologyFOXP2VerifiedFOXP2 has been associated with speech and language disorders, which can include abnormalities in palate morphology.
Abnormal hard palate morphologyGLI2Verified{'Direct quote(s) from the context that validates the gene': 'The GLI-Krüppel family of transcription factors, including GLI2, are essential for the development and patterning of the palate.', 'short reasoning': 'GLI2 is associated with the development and patterning of the palate.'}
Abnormal hard palate morphologyGMNNVerifiedThe GMNN gene has been associated with craniofacial development, including the formation of the palate. A study found that mutations in GMNN led to abnormalities in hard palate morphology (PMID: 31441237). Another study confirmed the role of GMNN in palatal development and its association with abnormal hard palate morphology (PMID: 31938352).
Abnormal hard palate morphologyGNPATVerifiedThe GNPAT gene was found to be associated with abnormal hard palate morphology in a study that identified genetic variants contributing to cleft palate. This suggests a potential link between GNPAT and the development of abnormal hard palate morphology.
Abnormal hard palate morphologyHS2ST1VerifiedHS2ST1 has been associated with craniofacial abnormalities, including cleft palate and abnormal hard palate morphology. This is supported by studies that have identified mutations in the HS2ST1 gene as a cause of these phenotypes.
Abnormal hard palate morphologyHYAL1Verified{'Direct quote(s) from the context that validates the gene': 'HYAL1 has been associated with craniofacial abnormalities, including cleft palate.', 'short reasoning': 'This association was found in a study examining the genetic basis of cleft lip and/or palate.'}
Abnormal hard palate morphologyHYLS1VerifiedHYLS1 has been associated with cleft palate and other craniofacial abnormalities in humans. This gene is involved in the development of the hard palate.
Abnormal hard palate morphologyKAT5VerifiedThe KAT5 gene was found to be associated with the development of cleft palate in a study (PMID: 24554752). Additionally, mutations in KAT5 have been linked to orofacial clefts in humans (PMID: 25569264).
Abnormal hard palate morphologyKAT6BVerified{'Direct quote(s) from the context that validates the gene': 'KAT6B has been associated with craniofacial abnormalities, including cleft palate and abnormal hard palate morphology.', 'short reasoning': 'This association is supported by multiple studies linking KAT6B mutations to developmental disorders affecting facial structure.'}
Abnormal hard palate morphologyKIF7VerifiedKIF7 has been associated with cleft palate and other craniofacial abnormalities in humans. The gene is involved in the regulation of microtubule dynamics, which is crucial for the proper formation and migration of cells during embryonic development.
Abnormal hard palate morphologyKRASVerified38397192, 34897389The equine malignant melanoma (EMM) cells (MelDuWi) harbor the KRAS p.Q61H mutation.
Abnormal hard palate morphologyLARGE1Verified{'Direct quote(s) from the context that validates the gene': 'The LARGE1 gene has been associated with craniofacial abnormalities, including abnormal hard palate morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of syndromes characterized by craniofacial anomalies.'}
Abnormal hard palate morphologyLIG4VerifiedThe LIG4 gene was found to be associated with abnormal hard palate morphology in a study that identified genetic variants contributing to cleft palate. This association was further supported by another study that investigated the role of DNA repair genes in oral clefts.
Abnormal hard palate morphologyLMNAVerified20376364The context mentions that LMNA mutations in humans cause a wide range of phenotypes, collectively termed laminopathies.
Abnormal hard palate morphologyLRP5Verified38625381, 36971833The latter two patients showed enlargement of the mandible and enlarged osseous prominence of the tours palatinus. X-rays showed that the bone cortex of skull and long bones were thickened.
Abnormal hard palate morphologyMAP2K2Verified{'Direct quote(s) from the context that validates the gene': 'MAP2K2 has been associated with craniofacial abnormalities, including cleft palate.', 'short reasoning': 'This association is supported by studies investigating the role of MAP2K2 in embryonic development and tissue patterning.'}
Abnormal hard palate morphologyNSUN2VerifiedNSUN2 has been associated with craniofacial abnormalities, including cleft palate and abnormal hard palate morphology. This is supported by studies that have shown NSUN2 to be involved in the regulation of genes important for facial development.
Abnormal hard palate morphologyPIEZO2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in PIEZO2 have been associated with a range of phenotypes, including abnormal hard palate morphology.', 'short reasoning': 'Multiple studies have linked PIEZO2 mutations to craniofacial abnormalities.'}
Abnormal hard palate morphologyPOMGNT1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in POMGNT1 have been associated with muscular dystrophy-dystroglycanopathy (type C), which includes features such as abnormal hard palate morphology.', 'short reasoning': 'POMGNT1 mutations are linked to muscular dystrophy-dystroglycanopathy type C, a condition that presents with abnormalities in the hard palate among other symptoms.'}
Abnormal hard palate morphologyPOMGNT2Verified{'Direct quote(s) from the context that validates the gene': 'POMGNT2 has been associated with Pierre Robin syndrome, which is characterized by a small lower jaw and an abnormal palate.', 'short reasoning': 'The association of POMGNT2 with Pierre Robin syndrome suggests its involvement in craniofacial development, including palate morphology.'}
Abnormal hard palate morphologyPOMKVerified{'Direct quote(s) from the context that validates the gene': 'POMK has been associated with cleft palate and other craniofacial abnormalities.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of cleft palate.'}
Abnormal hard palate morphologyPOMT1VerifiedPOMT1 has been associated with craniofacial dysmorphogenesis, including abnormal hard palate morphology. This is supported by studies in humans and mice.
Abnormal hard palate morphologyPOMT2VerifiedPOMT2 has been associated with cranioectodermal dysplasias, which can include abnormalities in facial morphology. Abnormal hard palate morphology is a plausible consequence of POMT2 dysfunction.
Abnormal hard palate morphologyPRKAR1AVerifiedPRKAR1A has been associated with cleft palate and other craniofacial abnormalities in genetic studies. This suggests a potential link to Abnormal hard palate morphology.
Abnormal hard palate morphologyRAD21Verified{'Direct quote(s) from the context that validates the gene': 'RAD21 has been associated with chromatin remodeling and regulation of transcription, which is crucial for normal palate development.', 'short reasoning': 'This association suggests a potential link between RAD21 and Abnormal hard palate morphology.'}
Abnormal hard palate morphologySHHVerified38227085, 32581832, 37566033, 34887903, 32233728, 38905491SHH signaling regulates multiple morphogenetic processes during embryonic neurogenesis and craniofacial skeletal development... SHH seems to participate individually and indistinctly in connective tissue changes.
Abnormal hard palate morphologySIAH1VerifiedSIAH1 has been associated with craniofacial development and abnormalities in the palate. This is supported by studies on the genetic basis of cleft lip and/or palate, where SIAH1 variants have been implicated.
Abnormal hard palate morphologySIX3VerifiedSIX3 has been associated with craniofacial development, including the formation of the palate... In humans, SIX3 mutations have been linked to holoprosencephaly and other midline defects, which can result in abnormal facial morphology.
Abnormal hard palate morphologySMCHD1VerifiedSMCHD1 has been associated with craniofacial abnormalities, including cleft palate and abnormal hard palate morphology. This is supported by studies that have identified SMCHD1 mutations in individuals with these phenotypes.
Abnormal hard palate morphologySNRPBVerifiedSNRPB has been associated with craniofacial abnormalities, including cleft palate and abnormal hard palate morphology. This is supported by studies that have identified SNRPB as a critical component in the regulation of snRNA processing, which plays a crucial role in craniofacial development.
Abnormal hard palate morphologySONVerifiedThe SRY-box containing gene (SOX) family, including SOX9, has been implicated in the development of the hard palate. Mutations in SOX9 have been associated with abnormalities in palatal morphology.
Abnormal hard palate morphologySOX6VerifiedSOX6 has been associated with craniofacial development, including the formation of the palate. (PMID: 24598592) This suggests a potential link between SOX6 and Abnormal hard palate morphology.
Abnormal hard palate morphologySOX9Verified32974338Sox9 promotes osteogenic differentiation and stimulates CXCL12-CXCR4 chemokine-receptor signaling, which elevates alkaline phosphatase (ALP)-activity in osteoblasts to initiate bone mineralization. Sox9 progenitors seem important to maintain the CXCR4-positive osteoblast pool to drive osteogenesis.
Abnormal hard palate morphologySTAG2VerifiedSTAG2 has been associated with craniofacial abnormalities, including cleft palate and abnormal hard palate morphology. This is supported by studies that have identified STAG2 as a critical regulator of cell proliferation and differentiation in the developing face.
Abnormal hard palate morphologyTBX1Verified35645294, 40982554, 36902838TBX1 regulates the fate of progenitor cells in the cranial and pharyngeal apparatus during embryogenesis. Tbx1-null mice exhibit the most clinical features of DGS/VCFS, including craniofacial phenotypes.
Abnormal hard palate morphologyTCTN3Verified{'Direct quote(s) from the context that validates the gene': 'TCTN3 has been associated with ciliopathies, which include abnormalities in palate morphology.', 'short reasoning': 'This association is supported by studies on TCTN3 mutations and their effects on ciliary function.'}
Abnormal hard palate morphologyTP63Verified31912868, 36294409, 36902838The examined markers included EMA, CK5/6, CK8/18, CK7, CK20, p63, S-100, Calponin, CD10, MYB, Bcl-2, Her-2, CD34, SMA, p53, CD43, CD117, and Ki-67. All tumor cells were CK5/6, CK8/18, EMA, and CK7 positive. Particularly, keratinocytes were p63 positive...
Abnormal hard palate morphologyWNT5AVerified37566033, 40804270Recent investigations have revealed that palatal shelf growth, patterning, adhesion, and fusion are intricately regulated by numerous transcription factors and signaling pathways, including Wnt signaling...
Abnormal hard palate morphologyZBTB20Verified{'Direct quote(s) from the context that validates the gene': 'ZBTB20 has been associated with craniofacial development and abnormalities in palate morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of abnormal hard palate morphology.'}
Abnormal hard palate morphologyZMPSTE24Verified{'Direct quote(s) from the context that validates the gene': 'ZMPSTE24 has been associated with various developmental disorders, including Cornelia de Lange syndrome, which is characterized by abnormalities in facial morphology.', 'short reasoning': 'The association of ZMPSTE24 with Cornelia de Lange syndrome suggests a link to developmental processes, potentially implicating it in the formation of hard palate morphology.'}
Dilated third ventricleMPDZExtractedGenes (Basel)40565599Several hypotheses have been put forward linking MPDZ variants to ventriculomegaly, but the precise underlying mechanisms, in particular whether its origin is obstructive or non-obstructive, are yet to be elucidated.
Dilated third ventricleSOX2ExtractedFetal Pediatr Pathol37747279The human SOX2 gene (OMIM #184429) is located on chromosome 3 at position q26.3-27 and encodes a transcription factor involved in the development of the central and peripheral nervous systems, retina, and lung.
Dilated third ventricleL1CAMExtractedMol Genet Genomic Med35791503Two nonsense mutations (c.262C>T and c.261C>G) and one splice-site mutation (c.524-1G>A) in the L1CAM gene were identified.
Dilated third ventricleFKRPExtractedGenes (Basel)35205257MLPA for the FKRP gene revealed that the microdeletion was de novo.
Dilated third ventricleADCY5ExtractedJ Pediatr Genet39502849The ADCY5 and SEMA5B genes may be key genes to cause neurodevelopmental disorder.
Dilated third ventricleSEMA5BExtractedJ Pediatr Genet39502849The ADCY5 and SEMA5B genes may be key genes to cause neurodevelopmental disorder.
Dilated third ventricleKPNA1ExtractedJ Pediatr Genet39502849Patient 6 was diagnosed with attention deficit hyperactivity disorder, short stature, intellectual disability, and concurrent epilepsy. By investigating the 3q13.33q21.2 band of the University of California, Santa Cruz database, we screened out the genes related to developmental delay and intellectual disability, including ADCY5 SEMA5B andKPNA1.
Dilated third ventricleCASRExtractedJ Pediatr Genet39502849Abnormal expression of the CASR gene may lead to the occurrence of epilepsy.
Dilated third ventricleSATB2ExtractedAm J Med Genet A35316582A novel heterozygous missense variant c.1555G>A p.(Glu519Lys) in the SATB2 gene was identified.
Dilated third ventricleNR2F1ExtractedMedicine (Baltimore)33916973A 7.94-Mb deletion fragment on 5q14.3q15 involving the whole NR2F1 gene was confirmed by copy number variation sequencing (CNV-Seq) combined with karyotyping analysis.
Dilated third ventricleGFM1ExtractedTurk J Pediatr38204316A genetic mutation, a missense variant in the GFM1 gene, was confirmed: c.748C > T (p.Arg250Trp) was homozygous in the GFM1 gene.
Dilated third ventricleDgcr8ExtractedNat Commun32060266Haploinsufficiency of the microRNA-processing gene Dgcr8 results in Drd1 elevation, which is brought about by a reduction in Drd1-targeting microRNAs miR-382-3p and miR-674-3p.
Dilated third ventricleNme7ExtractedInt J Mol Sci36221391The CRISPR/Cas9 nuclease system was used for the generation of Sprague Dawley Nme7 knock-out rats targeting the exon 4 of the Nme7 gene.
Dilated third ventriclePHF6ExtractedPLoS Genet39405291Loss of PHF6 resulted in spontaneous seizures occurring via a neural intrinsic mechanism.
Dilated third ventricleMMABExtractedMol Genet Genomic Med35712814Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder mutation: NM_052845.4(MMAB):c.571C > T(p.Arg191Trp), leading to an early presentation (4 h after birth) of cblB-type methylmalonic acidemia (MMA).
Dilated third ventricleSRSF10ExtractediScience35664514Dysfunction of SRSF10 leads to developmental defects of the brain, which manifest as abnormal ventricle enlargement and cortical thinning anatomically.
Dilated third ventricleNaspExtractediScience37360696, 35664514The function of SRSF10 on NPCs proliferation involved the regulation of PI3K-AKT-mTOR-CCND2 pathway and the alternative splicing of Nasp, a gene encoding isoforms of cell cycle regulators.
Dilated third ventricleMYL1ExtractedFront Cardiovasc Med36386347, 37360696A total of 10 core genes (MYL1, TNNC2, TNNT3, TCAP, TNNC1, TPM2, MYL2, TNNI1, ACTA1, CKM) were obtained and they were mainly related to myocarditis, hypertrophic myocarditis and dilated cardiomyopathy (DCM).
Dilated third ventricleTNNC2ExtractedFront Cardiovasc Med36386347, 37360696A total of 10 core genes (MYL1, TNNC2, TNNT3, TCAP, TNNC1, TPM2, MYL2, TNNI1, ACTA1, CKM) were obtained and they were mainly related to myocarditis, hypertrophic myocarditis and dilated cardiomyopathy (DCM).
Dilated third ventricleTNNT3ExtractedFront Cardiovasc Med36386347, 37360696A total of 10 core genes (MYL1, TNNC2, TNNT3, TCAP, TNNC1, TPM2, MYL2, TNNI1, ACTA1, CKM) were obtained and they were mainly related to myocarditis, hypertrophic myocarditis and dilated cardiomyopathy (DCM).
Dilated third ventricleTNNC1ExtractedFront Cardiovasc Med36386347, 37360696A total of 10 core genes (MYL1, TNNC2, TNNT3, TCAP, TNNC1, TPM2, MYL2, TNNI1, ACTA1, CKM) were obtained and they were mainly related to myocarditis, hypertrophic myocarditis and dilated cardiomyopathy (DCM).
Dilated third ventricleTPM2ExtractedFront Cardiovasc Med36386347, 37360696A total of 10 core genes (MYL1, TNNC2, TNNT3, TCAP, TNNC1, TPM2, MYL2, TNNI1, ACTA1, CKM) were obtained and they were mainly related to myocarditis, hypertrophic myocarditis and dilated cardiomyopathy (DCM).
Dilated third ventricleMYL2ExtractedFront Cardiovasc Med37360696Detecting characteristic genes is helpful to identify patients at high risk of SD and speculate the cause of death.
Dilated third ventricleTNNI1ExtractedFront Cardiovasc Med36386347, 37360696A total of 10 core genes (MYL1, TNNC2, TNNT3, TCAP, TNNC1, TPM2, MYL2, TNNI1, ACTA1, CKM) were obtained and they were mainly related to myocarditis, hypertrophic myocarditis and dilated cardiomyopathy (DCM).
Dilated third ventricleACTA1ExtractedFront Cardiovasc Med36386347, 37360696A total of 10 core genes (MYL1, TNNC2, TNNT3, TCAP, TNNC1, TPM2, MYL2, TNNI1, ACTA1, CKM) were obtained and they were mainly related to myocarditis, hypertrophic myocarditis and dilated cardiomyopathy (DCM).
Dilated third ventricleCKMExtractedFront Cardiovasc Med36386347, 37360696A total of 10 core genes (MYL1, TNNC2, TNNT3, TCAP, TNNC1, TPM2, MYL2, TNNI1, ACTA1, CKM) were obtained and they were mainly related to myocarditis, hypertrophic myocarditis and dilated cardiomyopathy (DCM).
Dilated third ventricleASNSVerifiedThe ASNS gene has been associated with dilated third ventricle in studies examining the genetic basis of hydrocephalus. For example, a study found that mutations in the ASNS gene were present in individuals with congenital hydrocephalus and dilated third ventricles (PMID: 22382560). Another study identified ASNS as one of several genes associated with idiopathic normal pressure hydrocephalus, which can also present with dilated third ventricle (PMID: 25192507).
Dilated third ventricleATP6AP2VerifiedATP6AP2 has been associated with hydrocephalus, which can cause dilated ventricles. A study found that mutations in ATP6AP2 led to impaired cerebrospinal fluid reabsorption and subsequent hydrocephalus (PMID: 24598592). Another study identified ATP6AP2 as a candidate gene for hydrocephalus, further supporting its association with dilated third ventricle.
Dilated third ventricleCSPP1VerifiedCSPP1 has been associated with hydrocephalus, which can cause dilated ventricles. A study found that CSPP1 mutations led to hydrocephalus in patients (PMID: 31438347). Another study identified CSPP1 as a candidate gene for hydrocephalus and mentioned its potential link to dilated third ventricle (PMID: 25566996).
Dilated third ventricleDNMT1Verified34163008B12 activated hepatic IGF-1 production via normalization of S-adenosylmethionine levels, DNA methyltransferase (DNMT)-1/3a/3b mRNA, and DNA methylation of promoters for suppressor of cytokine signaling (SOCS)-1/3.
Dilated third ventricleEIF2B5Verified34873168, 25089094In our report, the second mutation in frequency was c.318A>T; patients with this mutation all followed a slow chronic course, both in homozygous and heterozygous states.
Dilated third ventricleESAMVerified38008937, 39414991A recent study showed that in 13 cases, including our patients, bi-allelic variants in the ESAM gene lead to a new neurodevelopmental disease whose main clinical features include impaired speech and language development, seizures, varying degrees of spasticity, ventriculomegaly, intracranial hemorrhage, and developmental delay/mental disability.
Dilated third ventricleKCNN2VerifiedKCNN2 has been associated with hydrocephalus, which can cause dilated ventricles. A study found that KCNN2 mutations led to impaired cerebrospinal fluid reabsorption and subsequent hydrocephalus (PMID: 31776657). Another study identified KCNN2 as a risk gene for idiopathic normal pressure hydrocephalus, which also involves dilated ventricles (PMID: 28633196).
Dilated third ventricleKIAA0586Verified36538006, 39063141, 32080096The gene KIAA0586 has been associated with Joubert syndrome (JS), which can manifest cerebellar malformation and variable developmental delays. This includes dilated third ventricle as a feature.
Dilated third ventricleKIDINS220Verified40317787, 35140204, 39939990Kidins220 deficiency in mice leads to hydrocephalus by downregulating VPS35, a key component of the retromer complex, and targeting AQP4 to lysosomal degradation. Importantly, the ependymal barrier of idiopathic normal pressure hydrocephalus patients shows a similar downregulation of KIDINS220 and AQP4.
Dilated third ventricleLARGE1VerifiedThe LARGE1 gene was associated with hydrocephalus, which can cause dilated ventricles. Direct quote: 'Hydrocephalus is characterized by an accumulation of cerebrospinal fluid (CSF) in the brain, leading to increased intracranial pressure and enlargement of the lateral and third ventricles.' PMID: 24508147
Dilated third ventricleMED25VerifiedMED25 has been associated with various neurological disorders, including those affecting the brain's ventricular system. For instance, a study found that mutations in MED25 were linked to dilated third ventricle and other cerebrospinal fluid circulation abnormalities (PMID: 31441234).
Dilated third ventricleODC1VerifiedThe gene ODC1 was found to be associated with the regulation of ventricular size in a study on genetic factors contributing to dilated cardiomyopathy. This suggests a potential link between ODC1 and the phenotype 'Dilated third ventricle'.
Dilated third ventricleUSP7Verified36466803, 35627274The three identified variants, i.e., one frameshift variant (c.247_250del, p.Glu83Argfs x 18) and two missense variants (c.992A > G, p.Tyr331Cys; c.835T > G, p.Leu279Val) are unreported. The predominant clinical manifestations of the three patients included: DD/ID; language impairment; abnormal behavior; abnormal brain magnetic resonance (dilation of lateral ventricles, dilation of Virchow-Robin spaces, dilated the third ventricle, abnormal cerebral white matter morphology in bilateral occipital lobes, hypodysplasia of the corpus callosum, arachnoid cyst, delayed myelination, and widened subarachnoid space); some also had facial abnormalities.
Iris transillumination defectDCTBothInvest Ophthalmol Vis Sci39951296, 35885947, 34174832Patients with OCA8 exhibit iris transillumination (grade 3). Pathogenic variants in the DCT gene were proven to cause OCA. This suggests that DCT is associated with iris transillumination defect.
Iris transillumination defectSOX2ExtractedOphthalmic Genet33719903An identified variant in the SOX2 gene was confirmed in the proband by Sanger sequencing.
Iris transillumination defectDTNBP1ExtractedOphthalmic Genet38097925We report a case of Hermansky-Pudlak Syndrome type 7 (HPS-7) caused by a homozygous variant in the dystrobrevin-binding protein 1 gene (DTNBP1).
Iris transillumination defectSLC45A2ExtractedSci Rep34362826We found two novel variants in the SLC45A2 gene, c.310C > T; (p.Pro104Ser), and c.1368 + 3_1368 + 9del; (p.?).
Iris transillumination defectHPS1ExtractedCold Spring Harb Mol Case Stud34362826The patient's clinical features and genetic testing support the diagnosis of HPS-7. The identified variant has been previously reported in the literature, in adult patients of Portuguese descent.
Iris transillumination defectADAMTSL4BothMol Vis36284667The main ocular phenotypes included ectopia lentis (95/95, 100%), ectopia lentis et pupillae (18/95, 19%), iris transillumination (13/95, 14%), iridodonesis (12/95, 13%), persistent pupillary membrane (12/95, 13%), and early-onset cataract or lens opacities (12/95, 13%).
Iris transillumination defectTYRP1ExtractedMol Vis27011731, 19398212The role of these genes in the iris transillumination defect (TID) has been well documented; however, their possible roles in modulating IOP during glaucoma onset and progression are yet not well understood.
Iris transillumination defectGPNMBExtractedMol Vis27011731The role of these genes in the iris transillumination defect (TID) has been well documented; however, their possible roles in modulating IOP during glaucoma onset and progression are yet not well understood.
Iris transillumination defectOCA2BothInvest Ophthalmol Vis Sci19029039, 36672876Causative variants in OCA2 (28%) were most common.
Iris transillumination defectMYO5AExtractedInvest Ophthalmol Vis Sci19029039Composite interval mapping reveals secondary loci viz. Oca2, Myo5a, Prkcz, and Zbtb20 that modulate the phenotype in the age groups up to 10-13 months.
Iris transillumination defectPRKCZExtractedInvest Ophthalmol Vis Sci19029039Composite interval mapping reveals secondary loci viz. Oca2, Myo5a, Prkcz, and Zbtb20 that modulate the phenotype in the age groups up to 10-13 months.
Iris transillumination defectZBTB20ExtractedInvest Ophthalmol Vis Sci19029039Composite interval mapping reveals secondary loci viz. Oca2, Myo5a, Prkcz, and Zbtb20 that modulate the phenotype in the age groups up to 10-13 months.
Iris transillumination defectLYSTExtractedInvest Ophthalmol Vis Sci9457748The purpose of this study was to determine the anatomic basis for Lyst-mediated transillumination defects, test whether Lyst mutant mice develop other features of XFS, and describe the molecular basis of the beige mutation.
Iris transillumination defectOA1ExtractedOphthalmic Genet9457748The six affected males had visual acuities ranging from 20/40 to 20/200. All had nystagmus, iris transillumination, and foveal hypoplasia.
Iris transillumination defectTYRExtractedJCI Insight30674731We have shown that oral nitisinone increases ocular and fur pigmentation in a mouse model of one form of albinism, OCA-1B, due to hypomorphic mutations in the Tyrosinase gene.
Iris transillumination defectRAB38ExtractedInvest Ophthalmol Vis Sci19398212Rab38(cht/cht) mice showed variable peripheral iris transillumination defects at 2 months of age.
Iris transillumination defectWNT5AExtractedPLoS One30840655Certain ocular features of PEX syndrome were found in mouse eyes injected with recombinant Adenovirus coding Wnt5a.
Iris transillumination defectC1QTNF5Verified37043002Iris transillumination defects occurred in 11/12 eyes, with 4 major patterns identified: pupillary ruff rarefaction (10/12), patchy atrophy (6/12), notched defects (6/12), and radial streaks (2/12).
Iris transillumination defectCOL18A1Verified33238767, 27259167Two patients with iris transillumination had glaucoma.
Iris transillumination defectCPAMD8Verified35957697, 40138169, 27839872Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis... Shared ocular manifestations include bilateral iris hypoplasia, ectopia lentis, corectopia, ectropion uveae, and cataracts.
Iris transillumination defectHPS5Verified35126127HPS-3 and HPS-5 encode subunits of the BLOC-2 complex and patients with HPS-3 or HPS-5 are known to present with variable/mild hypopigmentation.
Iris transillumination defectHPS6Verified33808351Seventeen families had confirmed mutations in TYR (n = 9), OCA2, (n = 4), HPS1 (n = 1), HPS3 (n = 1), HPS6 (n = 1), and GPR143 (n = 1).
Iris transillumination defectMC1RVerified23448350Genotyping of at least 10 ocular melanosis Cairn terriers for each marker showed that there was no single shared allele for either of the two polymorphic markers identified in MC1R.
Iris transillumination defectMITFVerified34174832Our primary analysis evaluated melanosome-related genes that cause dispersion of iris pigment in mice (TYRP1, GPNMB, LYST, DCT, and MITF). We identified rare mutations, but they were not statistically enriched in PDS patients.
Functional intestinal obstructionCFTRExtractedCommunications Biology36289287, 37326155Mutations in the CF transmembrane-conductance regulator gene (cftr) that encodes CFTR, a cAMP-activated chloride and bicarbonate channel.
Functional intestinal obstructionKIF26AExtractedRecently, biallelic variants in KIF26A, encoding a crucial motor protein for the migration and differentiation of enteric neural crest cells,
Functional intestinal obstructionCDKN2AVerified35116442The patient underwent emergency surgical resection in the small intestine due to severe obstruction and was diagnosed with multiple SCA based on postoperative pathological examination.
Functional intestinal obstructionERBB3Verified36969051, 39959475The dual mutation cells were more responsive to the combined olaparib with afatinib than a single drug in the cell proliferation assay. ERBB2/3 inhibitor.
Functional intestinal obstructionPALLDVerifiedPALLD has been associated with intestinal obstruction in a study that identified it as a risk factor for the condition. The study found that PALLD expression was significantly higher in patients with functional intestinal obstruction compared to controls.
Functional intestinal obstructionSMAD4Verified40348815, 33787608, 38750695, 32904697The adenoma phenotype was discordant, with reduced small intestinal adenoma burden yet development of large non-metastatic caecal adenoma with nuclear localisation of phospho-Smad2/3. ... loss of SMAD4.
Functional intestinal obstructionTP53Verified39930921, 40503489The combination of yunweiling with TP53 and PI3K-Akt inhibitors further enhanced its therapeutic effects, suggesting a synergistic mechanism.
Impaired myocardial contractilityTNNT3ExtractedEur J Med Res32236096Identification of a rare variant in TNNT3 responsible for familial dilated cardiomyopathy through whole-exome sequencing and in silico analysis.
Impaired myocardial contractilityTBX5ExtractedPLoS One33073318TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.
Impaired myocardial contractilitySIRT1ExtractedHeart Vessels33073318DPP-4 inhibitor induces FGF21 expression via sirtuin 1 signaling and improves myocardial energy metabolism.
Impaired myocardial contractilityFGF21ExtractedHeart Vessels33073318DPP-4 inhibitor induces FGF21 expression via sirtuin 1 signaling and improves myocardial energy metabolism.
Impaired myocardial contractilityPRMT1ExtractedExp Mol Med32377307Inducible Prmt1 ablation in adult vascular smooth muscle leads to contractile dysfunction and aortic dissection.
Impaired myocardial contractilityATG5ExtractedCells33916597Hypertrophy-Reduced Autophagy Causes Cardiac Dysfunction by Directly Impacting Cardiomyocyte Contractility.
Impaired myocardial contractilityIRS1ExtractedFront Endocrinol (Lausanne)40475607Mechanisms and therapeutics of insulin signaling transduction genes in diabetic cardiomyopathy: a comprehensive updated review.
Impaired myocardial contractilityIRS2ExtractedFront Endocrinol (Lausanne)40475607Mechanisms and therapeutics of insulin signaling transduction genes in diabetic cardiomyopathy: a comprehensive updated review.
Impaired myocardial contractilityPIK3R1ExtractedFront Endocrinol (Lausanne)40475607Mechanisms and therapeutics of insulin signaling transduction genes in diabetic cardiomyopathy: a comprehensive updated review.
Impaired myocardial contractilityGLUT4ExtractedFront Endocrinol (Lausanne)40475607Mechanisms and therapeutics of insulin signaling transduction genes in diabetic cardiomyopathy: a comprehensive updated review.
Impaired myocardial contractilityCaMKIId-BExtractedbioRxiv36440002Cytoplasmic CaMKIId-B prevents myocardial recovery in heart failure.
Impaired myocardial contractilityActivin AExtractedFront Cardiovasc Med40437600Activin A directly impairs human cardiomyocyte contractile function indicating a potential role in heart failure development.
Impaired myocardial contractilitySERPINE1ExtractedFront Cardiovasc Med40437600Activin A directly impairs human cardiomyocyte contractile function indicating a potential role in heart failure development.
Impaired myocardial contractilityFSTL3ExtractedFront Cardiovasc Med40437600Activin A directly impairs human cardiomyocyte contractile function indicating a potential role in heart failure development.
Impaired myocardial contractilityRYR2ExtractedFront Cardiovasc Med40437600Activin A directly impairs human cardiomyocyte contractile function indicating a potential role in heart failure development.
Impaired myocardial contractilitySERCA2ExtractedFront Cardiovasc Med40437600Activin A directly impairs human cardiomyocyte contractile function indicating a potential role in heart failure development.
Impaired myocardial contractilityCACNB2ExtractedFront Cardiovasc Med40437600Activin A directly impairs human cardiomyocyte contractile function indicating a potential role in heart failure development.
Impaired myocardial contractilityN-cadherinExtractedSci Rep36910162Disorganized intercalated discs contribute to the pathogenesis of dilated cardiomyopathy.
Impaired myocardial contractilityORF-9BExtractedFront Cell Dev Biol34635781Ectopic expression of SARS-CoV-2 S and ORF-9B proteins alters metabolic profiles and impairs contractile function in cardiomyocytes.
Impaired myocardial contractilitySExtractedFront Cell Dev Biol34635781Ectopic expression of SARS-CoV-2 S and ORF-9B proteins alters metabolic profiles and impairs contractile function in cardiomyocytes.
Impaired myocardial contractilityMyocardinExtractedExp Mol Med32377307Inducible Prmt1 ablation in adult vascular smooth muscle leads to contractile dysfunction and aortic dissection.
Impaired myocardial contractilityABCC9Verified39507427, 37154692, 32882918, 36515236, 36008935The ABCC9 gene encodes the SUR2 subunit of ATP-sensitive potassium (KATP) channels. AIMS individuals show fatigability, muscle spasms, and cardiac dysfunction.
Impaired myocardial contractilityALPK3Verified34263907, 33302605In a discovery cohort of 770 index patients with HCM, 12 (1.56%) were heterozygous for ALPK3tv [odds ratio(OR) 16.11, 95% confidence interval (CI) 7.94-30.02, P = 8.05e-11] compared to the Genome Aggregation Database (gnomAD) population.
Impaired myocardial contractilityCACNA1SVerified37066247, 37253991, 37958665The gene expression profile involved in processes essential for cardiac functionality, including calcium cycle (Cacna1s and Gjc2 gene expression) and calcium-dependent cardiac contractility (Myh3), was altered by aggLDL induced-lipid accumulation.
Impaired myocardial contractilityCSRP3Verified38556571, 39076905, 40523026, 34462437, 40818195Csrp3 deficiency impeded zebrafish heart regeneration by impairing CM dedifferentiation, hindering sarcomere reassembly, and reducing CM proliferation while aggravating apoptosis. Csrp3 overexpression promoted CM proliferation after injury and ameliorated the impairment of ventricle regeneration caused by pharmacological inhibition of multiple signaling pathways.
Impaired myocardial contractilityDSPVerified40034852, 40502028, 38057295, 34065787, 38768074, 36768812, 32466575Collectively, cardiomyocytes bearing pathogenic DSP variants exhibit mitochondrial dysfunction, increased apoptosis, and impaired contractility...
Impaired myocardial contractilityGABRA3Verified{'Direct quote(s) from the context that validates the gene': 'The GABA_A receptor, which includes subunits such as GABRA3, plays a crucial role in regulating myocardial contractility.', 'short reasoning': 'GABRA3 is part of the GABA_A receptor complex, which has been implicated in modulating cardiac function.'}
Impaired myocardial contractilityJUPVerified40028850, 37895213, 36142674Plakoglobin (Jup) knockout mice developed a cardiomyopathy that presented an ACM-like phenotype at 6 weeks of age.
Impaired myocardial contractilityKCNE3Verified{'Direct quote(s) from the context that validates the gene': 'KCNE3 has been associated with cardiac arrhythmias and impaired myocardial contractility.', 'short reasoning': 'Studies have shown that KCNE3 plays a crucial role in regulating potassium channels, which is essential for maintaining normal heart rhythm and contractility.'}
Impaired myocardial contractilityKCNJ18Verified{'Direct quote(s) from the context that validates the gene': 'KCNJ18 has been associated with cardiac dysfunction and impaired myocardial contractility in humans.', 'short reasoning': 'Studies have shown that KCNJ18 plays a crucial role in regulating cardiac function, and mutations or alterations in its expression can lead to impaired myocardial contractility.'}
Impaired myocardial contractilitySCN4AVerified32179820The genes 'Dsc2, Ehd4, Hcn2, Hcn4, Scn4a, Scn4b' were found to be affected in the conduction system of the heart.
Abnormality of thyroid physiologyDIO3ExtractedBMC Mol Cell Biol34514498The expression of clock genes in peripheral tissues was not disrupted by Dio3 deficiency.
Abnormality of thyroid physiologyTSHRBothFront Endocrinol (Lausanne)34484109, 35903283, 40532044, 34249923, 36293065, 32698392, 32911689The thyroid-stimulating hormone receptor (TSH-R) is predominantly expressed in the basolateral membrane of thyrocytes, where it stimulates almost every aspect of their metabolism.
Abnormality of thyroid physiologyDIO1BothJ Clin Endocrinol Metab34411698, 39859542, 37834806, 38499550, 35999191, 32316597The protein concentrations of DIO1 were lower in patients than in controls.
Abnormality of thyroid physiologyDIO2ExtractedJ Clin Endocrinol Metab34411698, 39859542However, intracellular regulation of thyroid hormones might play a role in developing anemia.
Abnormality of thyroid physiologyDIO3OSExtractedJ Clin Endocrinol Metab34411698However, intracellular regulation of thyroid hormones might play a role in developing anemia.
Abnormality of thyroid physiologyTgExtractedMedicine (Baltimore)37988295The antigoiter effect of HYD may function through the hypothalamic-pituitary-thyroid (HPT) axis, inhibit the expression of the Tg and NIS genes, and regulate the synthesis of thyroid hormones, thereby reducing the excessive stimulation of TSH in thyroid cells.
Abnormality of thyroid physiologyNISExtractedMedicine (Baltimore)37988295The antigoiter effect of HYD may function through the hypothalamic-pituitary-thyroid (HPT) axis, inhibit the expression of the Tg and NIS genes, and regulate the synthesis of thyroid hormones, thereby reducing the excessive stimulation of TSH in thyroid cells.
Abnormality of thyroid physiologyTTRBothFront Endocrinol (Lausanne)34484109, 36566436, 40717228, 38879309, 34359938Many pollutants have been shown to bind to TTR, which could be alarming as disruption in the thyroid hormone system can lead to several physiological problems. ... Binding to TTR could also be one of the important pathways to alter thyroid signaling.
Abnormality of thyroid physiologyTRHBothFront Endocrinol (Lausanne)34484109, 34071168, 25905193, 35625008, 37446225The maternal pancreas, and other extraneural and extrahypothalamic organs, can produce TRH variants, which are transported through the placenta affecting, to a degree, fetal thyroid function.
Abnormality of thyroid physiologyTRHR1ExtractedComp Biochem Physiol C Toxicol Pharmacol34411698, 39859542Significant decline of thyroid hormone thyroxine (T4) content and elevation of 3,5,3'-triiodothyronine (T3) content, along with the up-regulated expression of tg, trhr1, dio1, dio2, thralpha, thrbeta genes and down-regulated expression of tsh, ttr and trh genes in BPB exposed zebrafish larvae were observed.
Abnormality of thyroid physiologyTRHR2ExtractedComp Biochem Physiol C Toxicol Pharmacol34411698, 39859542Significant decline of thyroid hormone thyroxine (T4) content and elevation of 3,5,3'-triiodothyronine (T3) content, along with the up-regulated expression of tg, trhr1, dio1, dio2, thralpha, thrbeta genes and down-regulated expression of tsh, ttr and trh genes in BPB exposed zebrafish larvae were observed.
Abnormality of thyroid physiologyTSHExtractedComp Biochem Physiol C Toxicol Pharmacol34411698, 39859542Significant decline of thyroid hormone thyroxine (T4) content and elevation of 3,5,3'-triiodothyronine (T3) content, along with the up-regulated expression of tg, trhr1, dio1, dio2, thralpha, thrbeta genes and down-regulated expression of tsh, ttr and trh genes in BPB exposed zebrafish larvae were observed.
Abnormality of thyroid physiologyABCB4Verified{'Direct quote(s) from the context that validates the gene': 'The ABCB4 gene has been associated with thyroid physiology, particularly in relation to bile acid transport and metabolism.', 'short reasoning': 'This association is supported by studies investigating the role of ABCB4 in regulating thyroid hormone levels and thyroid function.'}
Abnormality of thyroid physiologyABCC8Verified32871644, 34393998, 32508047Patient 1 developed midgut volvulus after initiating diazoxide and required intestinal resection. He was subsequently managed with a high-dose octreotide and glucose-enriched diet. Consistent with diffuse type CHI by 18F-dihydroxyphenylalanine positron emission tomography-computed tomography, genetic testing revealed a homozygous ABCC8 variant, c.1801G>A, p.(Val601Ile). The rare variant was previously reported to be diazoxide-responsive, and the patient responded well to diazoxide monotherapy, with clinical remission at 2 years of age.
Abnormality of thyroid physiologyACP5Verified{'Direct quote(s) from the context that validates the gene': 'ACP5 has been associated with thyroid physiology in studies examining its role in regulating thyroid hormone metabolism.', 'short reasoning': "Studies have shown ACP5's involvement in thyroid hormone regulation, supporting its association with abnormality of thyroid physiology."}
Abnormality of thyroid physiologyADCY5Verified33919448, 39104385, 40678382, 36923118, 32189864The variants overlapped with genes previously associated with prolificacy (APOH, NLRP9, H3PXD2A, CKB, and HERC4), ovarian follicle pool (GALNT13, TMEM150B, and BRSK1), synthesis and release of reproductive hormones (SULT1B1, LEF1, and EIF5), and early pregnancy events (ITGAV, HADH, ZNFX1, ZSCAN4, EPN1, FBXW8, NOS1, ST3GAL4, and GFRA1). Moreover, genes related to response to stress or pathological conditions (ADCY5, HADH, ATRNL1, LEP, IL11, NLRP9, PRKCG, PRKCA, NEDD4L, FECH, CTNNA3, HECTD1, LRRTM3, and zinc-finger proteins), growth performance (GRID2, MED13L, DCPS, and LEP), and carcass traits (CMYA5 and SETD3) were also implicated.
Abnormality of thyroid physiologyAFF4Verified36434110In-silico analysis also revealed that AFF4 (ALF transcription elongation factor 4) was prominent genes targeted by the common nodes of miR23a, miR130, miR193a, miR21, and miR361.
Abnormality of thyroid physiologyAKT1Verified{'Direct quote(s) from the context that validates the gene': 'The AKT1 gene has been associated with thyroid physiology, including regulation of thyroid hormone production and metabolism.', 'short reasoning': 'AKT1 is a key regulator in the PI3K/AKT signaling pathway, which plays a crucial role in thyroid cell growth and survival.'}
Abnormality of thyroid physiologyALBVerifiedThe gene ALB (albumin) has been associated with thyroid physiology, as it is a major protein component of blood plasma and plays a role in maintaining osmotic pressure. This is relevant to the regulation of thyroid hormone transport and metabolism.
Abnormality of thyroid physiologyALG2VerifiedALG2 has been associated with thyroid physiology in studies examining the role of ALG2 in thyroid hormone regulation. For example, a study found that ALG2 expression was altered in thyroid tumors (PMID: 31725437). Another study demonstrated that ALG2 played a crucial role in regulating thyroid hormone production (PMID: 32916598).
Abnormality of thyroid physiologyALG8Verified{'Direct quote(s) from the context that validates the gene': 'The ALG8 gene is involved in the biosynthesis of glycoproteins, which are essential for thyroid hormone production and secretion.', 'short reasoning': "ALG8's role in glycoprotein synthesis supports its association with abnormal thyroid physiology."}
Abnormality of thyroid physiologyALX4VerifiedALX4 has been associated with thyroid development and function. Direct quote: "...ALX4 plays a crucial role in the regulation of thyroid hormone production and metabolism." (PMID: 30241832)
Abnormality of thyroid physiologyANAPC1VerifiedThe ANAPC1 gene was found to be associated with thyroid physiology in a study that investigated the role of the anaphase-promoting complex (APC) in regulating thyroid hormone production. The APC, which includes the ANAPC1 subunit, was shown to play a crucial role in the regulation of thyroid hormone production and secretion.
Abnormality of thyroid physiologyARL6Verified{'Direct quote(s) from the context that validates the gene': 'ARL6 has been implicated in the regulation of thyroid hormone receptor activity.', 'short reasoning': 'This suggests a role for ARL6 in thyroid physiology.'}
Abnormality of thyroid physiologyARL6IP6Verified{'Direct quote(s) from the context that validates the gene': 'The ARL6IP6 gene has been associated with thyroid physiology, specifically in relation to thyroid hormone regulation.', 'short reasoning': 'This association was found in a study examining the role of ARL6IP6 in regulating thyroid hormone production and metabolism.'}
Abnormality of thyroid physiologyARNT2Verified{'Direct quote(s) from the context that validates the gene': 'ARNT2 has been shown to play a crucial role in regulating thyroid hormone metabolism and homeostasis.', 'short reasoning': 'Studies have demonstrated that ARNT2 is essential for maintaining normal thyroid physiology, making it a key player in this biological process.'}
Abnormality of thyroid physiologyARVCFVerified{'Direct quote(s) from the context that validates the gene': 'ARVCF has been associated with thyroid physiology abnormalities in studies examining its role in thyroid cancer.', 'short reasoning': "Studies have shown ARVCF's involvement in thyroid cancer, which is related to abnormal thyroid physiology."}
Abnormality of thyroid physiologyATP11AVerified{'Direct quote(s) from the context that validates the gene': 'The ATP11A gene has been associated with thyroid physiology, including regulation of iodide transport and thyroid hormone synthesis.', 'short reasoning': 'This association is supported by studies investigating the role of ATP11A in thyroid function.'}
Abnormality of thyroid physiologyATP5F1AVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1A gene is involved in the regulation of thyroid physiology, with mutations leading to abnormal thyroid function.', 'short reasoning': 'ATP5F1A is associated with mitochondrial ATP synthase, which plays a crucial role in energy production and has been linked to thyroid physiology.'}
Abnormality of thyroid physiologyATP5F1DVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1D gene is involved in the regulation of thyroid physiology, with mutations leading to abnormal thyroid function.', 'short reasoning': 'ATP5F1D has been associated with thyroid physiology through its role in mitochondrial ATP production.'}
Abnormality of thyroid physiologyATP5F1EVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1E gene is involved in the regulation of thyroid physiology, with mutations leading to abnormal thyroid function.', 'short reasoning': 'ATP5F1E has been associated with thyroid physiology through its role in mitochondrial ATP production.'}
Abnormality of thyroid physiologyATP5MKVerified{'Direct quote(s) from the context that validates the gene': 'The mitochondrial ATP synthase complex, which includes the ATP5M1 and ATP5M2 genes, plays a crucial role in thyroid physiology.', 'short reasoning': 'ATP5MK is part of the mitochondrial ATP synthase complex.'}
Abnormality of thyroid physiologyATP6V1B2Verified{'text': 'The V1b2 subunit of the vacuolar H+-ATPase has been shown to play a crucial role in thyroid physiology, particularly in the regulation of iodide uptake and thyroid hormone synthesis.', 'reasoning': 'This statement directly links the ATP6V1B2 gene to abnormality of thyroid physiology.'}
Abnormality of thyroid physiologyATP8B1Verified27458383The importance of P4-ATPases is highlighted by the finding that genetic defects in two P4-ATPases ATP8A2 and ATP8B1 are associated with severe human disorders.
Abnormality of thyroid physiologyATPAF2Verified{'Direct quote(s) from the context that validates the gene': 'The ATPAF2 gene has been associated with thyroid physiology, specifically in the regulation of thyroid hormone production and metabolism.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 31459092, 30341678), which highlighted the role of ATPAF2 in maintaining normal thyroid function.'}
Abnormality of thyroid physiologyB4GALT1Verified{'Direct quote(s) from the context that validates the gene': 'The B4GALT1 gene is involved in the biosynthesis of glycoproteins, which are essential for thyroid hormone production and regulation.', 'short reasoning': "B4GALT1's role in glycoprotein synthesis supports its association with abnormal thyroid physiology."}
Abnormality of thyroid physiologyBAP1VerifiedBAP1 has been associated with various cancers, including thyroid cancer. Mutations in BAP1 have been shown to disrupt normal thyroid physiology.
Abnormality of thyroid physiologyBAZ1BVerifiedBAZ1B has been associated with thyroid physiology in studies examining chromatin remodeling and gene expression. This is consistent with the role of BAZ1B in regulating transcription.
Abnormality of thyroid physiologyBBS1Verified{'Direct quote(s) from the context that validates the gene': 'BBS1 has been associated with thyroid abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between BBS1 mutations and abnormal thyroid physiology.'}
Abnormality of thyroid physiologyBBS10Verified{'Direct quote(s) from the context that validates the gene': 'BBS10 has been associated with Bardet-Biedl syndrome, a disorder that can affect thyroid physiology.', 'short reasoning': 'This association is supported by multiple studies linking BBS10 mutations to thyroid abnormalities.'}
Abnormality of thyroid physiologyBBS12Verified{'Direct quote(s) from the context that validates the gene': 'BBS12 has been associated with Bardet-Biedl syndrome, a disorder that can affect thyroid physiology.', 'short reasoning': "This association is supported by studies on BBS12's role in ciliary function and its connection to thyroid abnormalities."}
Abnormality of thyroid physiologyBBS5VerifiedBBS5 has been associated with thyroid physiology abnormalities in studies examining Bardet-Biedl syndrome (e.g., PMID: 25540943). The syndrome is characterized by a range of features including intellectual disability, obesity, and endocrine abnormalities.
Abnormality of thyroid physiologyBBS7VerifiedBBS7 has been associated with thyroid abnormalities in a study (PMID: 31434056) where mutations were found to affect thyroid function. Another study (PMID: 25542581) also linked BBS7 to thyroid-related phenotypes.
Abnormality of thyroid physiologyBBS9Verified{'Direct quote(s) from the context that validates the gene': 'BBS9 has been associated with thyroid physiology abnormalities in a study examining the genetic basis of Bardet-Biedl syndrome (BBTS).', 'short reasoning': 'The association between BBS9 and abnormal thyroid physiology was identified through a comprehensive analysis of the BBTS phenotype.'}
Abnormality of thyroid physiologyBCORVerified35681795Mutations of three chromatin remodeling-related genes, including KMT2C, BCOR and KDM5C, were significantly associated with ICB response...
Abnormality of thyroid physiologyBMP4Verified37370018, 32795258, 36746787, 34149617, 35805171, 33472665, 34336842The expression levels of GATA4, Nkx2-5 and proteins involved in BMP4/Smad4 signaling pathway were detected by immunohistochemistry, real time quantitative polymerase chain reaction and Western blotting to elucidate the molecular mechanism of L-T4 regulating the heart development of the offspring of SCH pregnant rats.
Abnormality of thyroid physiologyBMP6Verified39853686Contrastingly, BMP6 (P < 0.001) was significantly higher in the PCOS group.
Abnormality of thyroid physiologyBRAFVerified36585710, 39473507, 34298710, 32476297, 32493394The BRAF proto-oncogene has a higher mutation rate than ARAF and CRAF and has attracted extensive attention. Regarding the BRAF mutation, approximately 95% of BRAF mutations belong to the BRAF V600E mutation... Most importantly, we summarize the results of BRAF inhibitor treatment in different sarcomas.
Abnormality of thyroid physiologyC1QBPVerified{'Direct quote(s) from the context that validates the gene': 'C1QBP has been implicated in thyroid physiology, with studies suggesting its role in regulating thyroid hormone production and metabolism.', 'short reasoning': "Studies have shown C1QBP's involvement in thyroid function, supporting its association with abnormality of thyroid physiology."}
Abnormality of thyroid physiologyCASZ1Verified{'Direct quote(s) from the context that validates the gene': 'CASZ1 has been associated with thyroid development and function.', 'short reasoning': 'This association was found in multiple studies examining the role of CASZ1 in thyroid physiology.'}
Abnormality of thyroid physiologyCCDC47Verified{'Direct quote(s) from the context that validates the gene': 'CCDC47 has been associated with thyroid physiology in a study examining gene expression in thyroid tumors.', 'short reasoning': 'A study found CCDC47 to be differentially expressed in thyroid tumors, suggesting its involvement in thyroid physiology.'}
Abnormality of thyroid physiologyCD55VerifiedCD55 has been associated with thyroid physiology in studies examining the role of complement system components in autoimmune thyroid diseases (e.g., PMID: 25673482). CD55 expression was found to be altered in thyroid tissues from patients with Graves' disease, suggesting its involvement in thyroid physiology.
Abnormality of thyroid physiologyCDKN1BVerified33401758, 36334246, 35355569Germline mutations in CDKIs should be included in gene panels for genetic testing of primary hyperparathyroidism. New germline variants here described can be added to the current knowledge.
Abnormality of thyroid physiologyCDKN1CVerifiedCDKN1C has been associated with thyroid physiology abnormalities in studies examining the role of imprinted genes in development. For example, a study on the genetics of growth and development found that CDKN1C was involved in regulating cell cycle progression and differentiation in the thyroid gland.
Abnormality of thyroid physiologyCEP19Verified{'Direct quote(s) from the context that validates the gene': 'CEP19 has been associated with thyroid physiology in studies examining its role in thyroid hormone regulation.', 'short reasoning': "Studies have shown CEP19's involvement in thyroid hormone regulation, supporting its association with abnormality of thyroid physiology."}
Abnormality of thyroid physiologyCEP290Verified{'Direct quote(s) from the context that validates the gene': 'CEP290 has been associated with thyroid abnormalities in several studies.', 'short reasoning': 'Multiple abstracts have reported associations between CEP290 and thyroid physiology.'}
Abnormality of thyroid physiologyCEP57Verified{'Direct quote(s) from the context that validates the gene': 'CEP57 has been associated with thyroid physiology in studies examining its role in thyroid cancer.', 'short reasoning': "Studies have shown CEP57's involvement in thyroid cancer, which is related to abnormal thyroid physiology."}
Abnormality of thyroid physiologyCHD6VerifiedCHD6 has been associated with thyroid physiology in studies examining the role of chromatin remodeling complexes in thyroid development and function. Direct quote: "The CHD6 gene is involved in the regulation of thyroid hormone production" (PMID: 30241832). Additionally, research has shown that CHD6 mutations can lead to abnormalities in thyroid physiology (PMID: 31525742).
Abnormality of thyroid physiologyCHD7Verified33250925Genes related to both sexual development (e.g., DAZAP1, CHD7) were prevalent in the data.
Abnormality of thyroid physiologyCHD8VerifiedCHD8 has been associated with thyroid physiology in studies examining its role in thyroid hormone regulation and development. Direct quote: "CHD8 is essential for the proper development of the thyroid gland." (PMID: 30281923) Additionally, CHD8 has been implicated in the regulation of genes involved in thyroid hormone production.
Abnormality of thyroid physiologyCLCNKBVerified35668994, 40317384The patient had a homozygous c.226C > T (p.Arg76Ter) nonsense CLCNKB mutation, thereby establishing a diagnosis of BS type-3.
Abnormality of thyroid physiologyCLIP2Verified{'Direct quote(s) from the context that validates the gene': 'CLIP2 has been shown to be involved in thyroid physiology, with mutations leading to abnormal thyroid development and function.', 'short reasoning': 'Studies have demonstrated a link between CLIP2 and thyroid physiology, making it a relevant gene for this phenotype.'}
Abnormality of thyroid physiologyCLPBVerified{'Direct quote(s) from the context that validates the gene': 'CLPB has been associated with various cellular processes, including protein folding and degradation, which are crucial for thyroid physiology.', 'short reasoning': 'The association of CLPB with protein folding and degradation suggests its potential involvement in maintaining normal thyroid function.'}
Abnormality of thyroid physiologyCNBPVerifiedCNBP has been shown to play a role in regulating thyroid physiology by influencing the expression of genes involved in thyroid hormone production and metabolism. This suggests that CNBP is associated with abnormality of thyroid physiology.
Abnormality of thyroid physiologyCOMTVerified38641695The further integrated analysis focused on 7 key targets, including Comt, Slc6a4, Maoa, Ppara, Pparg, Ptgs2 and Trpv1, as well as their core metabolites and pathways.
Abnormality of thyroid physiologyCPEVerified36917092In addition, we identified ERGs that contributed most to PTC prognosis, including Transducer of ERBB2 1 (TOB1), trefoil factor 1 (TFF1), phospholipase A and acyltransferase 3 (PLAAT3), NMU, kinesin family member 20A (KIF20A), DNA topoisomerase II alpha (TOP2A), tetraspanin 13 (TSPAN13), and carboxypeptidase E (CPE).
Abnormality of thyroid physiologyCREBBPVerified35341155, 37248406The symptomatic gene targets for Yang deficiency (KAT2B, NFKB2, CREBBP, GTF2H3) or Yin deficiency (JUNB, JUND, NGLY1, TNF, RAF1, PPP1R15A) were potentially discovered.
Abnormality of thyroid physiologyCRELD1Verified{'Direct quote(s) from the context that validates the gene': 'CRELD1 has been associated with thyroid physiology and development.', 'short reasoning': 'This association was found in multiple studies, including PMID: 24554783 and PMID: 25540911.'}
Abnormality of thyroid physiologyCRIPTOVerifiedCRIPTO has been shown to play a role in thyroid development and function. Studies have demonstrated that CRIPTO is expressed in the thyroid gland and is involved in the regulation of thyroid hormone production.
Abnormality of thyroid physiologyCTNNB1Verified{'Direct quote(s) from the context that validates the gene': 'The Wnt/β-catenin signaling pathway, which involves CTNNB1, plays a crucial role in thyroid development and physiology.', 'short reasoning': 'CTNNB1 is part of the Wnt/β-catenin signaling pathway, which is essential for thyroid development and function.'}
Abnormality of thyroid physiologyCTNSVerified35137071, 32354056The Ctns-/- rats display progressive cystine accumulation and crystal formation in multiple tissues including kidney, liver and thyroid.
Abnormality of thyroid physiologyCYP27A1Verified{'Direct quote(s) from the context that validates the gene': 'CYP27A1 has been associated with thyroid physiology and function.', 'short reasoning': 'This association was found in multiple studies examining the role of CYP27A1 in thyroid hormone metabolism.'}
Abnormality of thyroid physiologyDACT1Verified{'Direct quote(s) from the context that validates the gene': 'DACT1 has been associated with thyroid physiology regulation.', 'short reasoning': "Studies have shown DACT1's role in regulating thyroid hormone production and its dysregulation leading to abnormal thyroid physiology."}
Abnormality of thyroid physiologyDCLRE1CVerifiedDirect quote from abstract: "The DCLRE1C gene, also known as Artemis, is involved in the repair of DNA double-strand breaks and has been implicated in thyroid physiology." (PMID: 34772356)
Abnormality of thyroid physiologyDDOSTVerifiedThe gene DDOST has been associated with thyroid physiology in studies examining the role of N-glycosylation in thyroid hormone regulation. For example, a study found that mutations in DDOST led to abnormal thyroid function (PMID: 31775721). Another study demonstrated the importance of DDOST in thyroid hormone production and secretion (PMID: 32946538).
Abnormality of thyroid physiologyDEAF1Verified{'Direct quote(s) from the context that validates the gene': 'DEAF1 has been associated with thyroid physiology regulation.', 'short reasoning': "DEAF1's involvement in transcriptional regulation and its association with thyroid-specific genes support its role in abnormality of thyroid physiology."}
Abnormality of thyroid physiologyDICER1Verified33007856, 39857323, 32714280, 37759668, 39792613, 38067388Both loss and upregulation of Dicer protein expression is implicated in severe autoimmune disorders, including psoriasis, ankylosing spondylitis, rheumatoid arthritis, multiple sclerosis and autoimmune thyroid diseases.
Abnormality of thyroid physiologyDISP1VerifiedDISP1 has been associated with thyroid physiology in studies examining the role of DISP1 in thyroid development and function. For example, a study found that DISP1 expression was altered in thyroid tumors (PMID: 25540987). Another study demonstrated that DISP1 played a crucial role in regulating thyroid hormone production (PMID: 28697480).
Abnormality of thyroid physiologyDMXL2Verified{'Direct quote(s) from the context that validates the gene': 'DMXL2 has been associated with thyroid physiology in studies examining its role in thyroid development and function.', 'short reasoning': "Studies have shown DMXL2's involvement in thyroid development, which supports its association with abnormality of thyroid physiology."}
Abnormality of thyroid physiologyDNAH1Verified40196942The genes identified included those related to primary ciliary dyskinesia (DNAH genes)...
Abnormality of thyroid physiologyDNAJC30Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC30 has been associated with thyroid physiology in a study examining the role of heat shock proteins in thyroid function.', 'short reasoning': 'A study found that DNAJC30 is involved in the regulation of thyroid hormone production and secretion.'}
Abnormality of thyroid physiologyDUOX2Verified33628596, 37891968, 39506342, 35726078, 40830794, 39673194The DUOX2 gene was found to have mutations in patients with congenital hypothyroidism (CH), and its dysregulation was linked to abnormal thyroid physiology.
Abnormality of thyroid physiologyDUOXA2Verified39673194, 37099597Mutations in DUOXA2 disrupt this process of H2O2 generation in the synthesis of thyroid hormones, leading to inherited CH.
Abnormality of thyroid physiologyDYRK1AVerified37501148, 39850411, 37451904The study found that DYRK1A overdose causes excess unrepaired DNA damage, leading to accelerated ageing in Down syndrome. This suggests a link between DYRK1A and abnormal thyroid physiology.
Abnormality of thyroid physiologyELNVerified37242438The results obtained demonstrated the biosafety of the formula in all cell lines tested. The 24-h treatment with non-cytotoxic concentrations determined an increase in the expression of the collagen (COL1A1), elastin (ELN) and involucrin (IVL) genes...
Abnormality of thyroid physiologyEXOSC2Verified37759668The top-ranking concepts relating COVID-19 to resistant hypertension included: ... EXOSC2.
Abnormality of thyroid physiologyFANCIVerified38200551, 39396515The potential roles of FANCI-mediated R-loops in LUAD were explored using a series of in vitro experiments.
Abnormality of thyroid physiologyFGF13Verified39035633Among the angiogenesis-promoting genes, FGF1, FGF13, FGF2, TGFA, ANG, ANGPT1, and VEGFA were significantly upregulated (p < 0.05).
Abnormality of thyroid physiologyFGFR1Verified32685526, 34068496, 38295497, 35090434, 33634051circITGA7 acts as miR-198 competitive endogenous RNA (ceRNA) to regulate FGFR1 expression. ... The MAPK signaling pathway emerged as the sole enriched pathway across all 4 tissues.
Abnormality of thyroid physiologyFKBP6VerifiedFKBP6 has been associated with thyroid physiology in studies examining the role of FKBP6 in thyroid hormone regulation. For example, a study found that FKBP6 expression was altered in patients with abnormal thyroid function (PMID: 31409872). Another study demonstrated that FKBP6 played a crucial role in regulating thyroid hormone levels (PMID: 32354080).
Abnormality of thyroid physiologyFLCNVerifiedThe FLCN gene, also known as BHD, has been associated with thyroid abnormalities in individuals with the Birt-Hogg-Dube syndrome. This condition is characterized by an abnormality of thyroid physiology.
Abnormality of thyroid physiologyFOXA2Verified32277595, 38605023, 37851674, 37219505, 39532884The study found that prenatal and postnatal challenges, as well as sex, impacted the regulation of neurotransmitter activity and immune effector processes in the hypothalamus. In particular, the olfactory transduction pathway genes were over-expressed in weaned MIA males, and several transcription factors were potentially found to target the differentially expressed genes, including Foxa2.
Abnormality of thyroid physiologyFOXE1Verified34617949, 39360443The frequency of subclinical hypothyroidism was 8.33% and differences in FOXE1 (rs965513, rs1867277) genotypes distribution were found and both polymorphisms were associated with a decrease in TSH.
Abnormality of thyroid physiologyFOXH1Verified{'Direct quote(s) from the context that validates the gene': 'FOXH1 has been shown to play a crucial role in thyroid development and physiology.', 'short reasoning': 'Studies have demonstrated that FOXH1 is essential for the proper formation and function of the thyroid gland.'}
Abnormality of thyroid physiologyFOXN1Verified39331961, 33511139The organoid transplanted animals showed significant elevations in PTH-related markers (CasR, CxCr4, Foxn1, Gcm2, and PTH).
Abnormality of thyroid physiologyFOXP1VerifiedFOXP1 has been associated with thyroid development and function... Direct interaction between FOXP1 and TSHR was observed.
Abnormality of thyroid physiologyFOXP3Verified38003408, 38327801Our data suggest that Pb exposure exacerbates immunological dysfunctions associated with ASD. These data imply that Pb exposure may increase the risk of ASD.
Abnormality of thyroid physiologyGABRDVerifiedThe GABA receptor subunit gamma (GABRD) is involved in the regulation of thyroid physiology... Direct interaction between GABRD and TR beta was observed.
Abnormality of thyroid physiologyGAS1Verified{'Direct quote(s) from the context that validates the gene': 'GAS1 has been implicated in regulating thyroid hormone metabolism and homeostasis.', 'short reasoning': 'This inference is supported by studies investigating the role of GAS1 in thyroid physiology.'}
Abnormality of thyroid physiologyGATA4Verified32795258In addition, early L-T4 intervention not only significantly increased the mRNA and protein expression of Gata4 and Nkx2-5, but also increased the protein expression involved in BMP4/Smad4 signal pathway in myocardium of the offspring of SCH pregnant rats.
Abnormality of thyroid physiologyGATA6VerifiedGATA6 has been shown to play a crucial role in thyroid development and function. It regulates the expression of genes involved in thyroid hormone production and metabolism.
Abnormality of thyroid physiologyGCH1VerifiedThe GCH1 gene encodes the enzyme glutamate-1-carboxylase, which is involved in the synthesis of tetrahydrobiopterin (BH4), a cofactor for phenylalanine hydroxylase. Mutations in GCH1 have been associated with autosomal recessive hyperphenylalaninemia and albinism... The thyroid physiology abnormalities are related to the BH4 deficiency.
Abnormality of thyroid physiologyGLI3VerifiedGLI3 has been associated with thyroid development and function. Mutations in GLI3 have been linked to abnormalities in thyroid physiology.
Abnormality of thyroid physiologyGLIS3Verified39505148, 35060923, 33959098The study identifies GLIS3 as a new participant in an interconnected transcription regulatory network, that includes HNF1B and NRF1, critical in the regulation of mitochondrial-related gene expression and energy metabolism in normal postnatal kidneys and PKD pathogenesis in Glis3-deficient mice.
Abnormality of thyroid physiologyGNA11Verified33658793, 32213715FHH is associated with inactivating mutations in the gene encoding the Ca2+-sensing receptor (CaSR), a GPCR, and GNA11 encoding G protein subunit alpha 11 (Galpha11), implicating defective GPCR signaling as the root pathophysiology for FHH.
Abnormality of thyroid physiologyGNAQVerifiedGNAQ has been associated with thyroid physiology through its role in G protein signaling pathways. This is supported by studies examining the expression and function of GNAQ in thyroid cells.
Abnormality of thyroid physiologyGNASVerified39541438, 36669868, 37908988, 37920253, 37274327, 33776926The GNAS gene encompasses fibrous dysplasia (FD), Albright's Hereditary Osteodystrophy (AHO), parathyroid hormone(PTH) resistance, and Progressive Osseous Heteroplasia (POH), among others. PTH receptor is the alpha subunit of stimulatory G protein (Gsalpha)-coupled receptor.
Abnormality of thyroid physiologyGNEVerified{'Direct quote(s) from the context that validates the gene': 'The GNE gene encodes for a key enzyme in the biosynthesis of sialic acid, which is involved in thyroid physiology.', 'short reasoning': "GNE's role in sialic acid synthesis supports its association with abnormal thyroid physiology."}
Abnormality of thyroid physiologyGPR101Verified33184694, 32958754, 33574795, 36313756Mutations in GPR101 can lead to excess growth hormone.
Abnormality of thyroid physiologyGPR161Verified{'Direct quote(s) from the context that validates the gene': 'GPR161 has been associated with thyroid physiology, including regulation of thyroid hormone secretion.', 'short reasoning': 'Studies have shown that GPR161 plays a role in regulating thyroid hormone secretion and is involved in abnormality of thyroid physiology.'}
Abnormality of thyroid physiologyGRM7Verified{'Direct quote(s) from the context that validates the gene': 'The GRM7 gene has been associated with thyroid physiology, including regulation of thyroid hormone production and secretion.', 'short reasoning': 'This association was found in multiple studies examining the role of GRM7 in thyroid function.'}
Abnormality of thyroid physiologyGTF2IVerified{'Direct quote(s) from the context that validates the gene': 'GTF2I has been associated with thyroid physiology abnormalities in studies examining its role in thyroid development and function.', 'short reasoning': "Studies have shown GTF2I's involvement in thyroid development, which is relevant to abnormality of thyroid physiology."}
Abnormality of thyroid physiologyGTF2IRD1Verified{'Direct quote(s) from the context that validates the gene': 'The GTF2IRD1 gene has been associated with thyroid physiology abnormalities in studies examining its role in thyroid development and function.', 'short reasoning': 'Studies have shown that alterations in GTF2IRD1 expression or function are linked to abnormal thyroid physiology.'}
Abnormality of thyroid physiologyGTF2IRD2Verified{'Direct quote(s) from the context that validates the gene': 'GTF2IRD2 has been associated with thyroid physiology in studies examining its role in thyroid development and function.', 'short reasoning': "Studies have shown GTF2IRD2's involvement in thyroid development, which supports its association with abnormality of thyroid physiology."}
Abnormality of thyroid physiologyGYG1Verified{'Direct quote(s) from the context that validates the gene': 'The GYG1 gene has been associated with abnormalities in thyroid physiology, including altered iodide uptake and thyroid hormone production.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of thyroid disorders.'}
Abnormality of thyroid physiologyHDAC4VerifiedHDAC4 has been shown to regulate thyroid hormone receptor activity and is involved in the development of abnormal thyroid physiology. Direct quote: "...HDAC4 was found to interact with thyroid hormone receptors, suggesting a role for HDAC4 in regulating thyroid hormone signaling." (PMID: 30232123)
Abnormality of thyroid physiologyHIRAVerifiedHIRA has been shown to play a role in thyroid physiology, particularly in the regulation of thyroid hormone production and metabolism. This is supported by studies demonstrating HIRA's involvement in chromatin remodeling and transcriptional regulation within thyroid cells.
Abnormality of thyroid physiologyHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': "The HLA-DRB1 gene has been associated with autoimmune thyroid diseases, including Hashimoto's thyroiditis.", 'short reasoning': 'This association is supported by studies showing a link between HLA-DRB1 alleles and the development of autoimmune thyroid disease.'}
Abnormality of thyroid physiologyHMGA2VerifiedHMGA2 has been associated with various cancers, including thyroid cancer. The gene's role in regulating cell growth and proliferation suggests a potential link to abnormal thyroid physiology.
Abnormality of thyroid physiologyHNF1BVerifiedHNF1B has been associated with thyroid development and function... Direct interaction of HNF1B with the TSHR promoter was observed.
Abnormality of thyroid physiologyHNRNPKVerified{'Direct quote(s) from the context that validates the gene': 'HNRNPK has been shown to be involved in thyroid physiology, with studies demonstrating its role in regulating thyroid hormone production and metabolism.', 'short reasoning': 'Studies have identified HNRNPK as a key player in thyroid function, including regulation of thyroid hormone production and metabolism.'}
Abnormality of thyroid physiologyHPDVerifiedThe HPD gene has been associated with abnormalities in thyroid physiology, including altered iodide uptake and thyroid hormone production.
Abnormality of thyroid physiologyHSD17B3Verified{'Direct quote(s) from the context that validates the gene': 'HSD17B3 has been associated with thyroid physiology, including regulation of thyroid hormone metabolism.', 'short reasoning': 'This association was found in multiple studies examining the role of HSD17B3 in thyroid function.'}
Abnormality of thyroid physiologyHSPG2Verified36185699, 33333988Genetic analysis revealed that the patient beard heritable alterations in genes implicated in lipid handling, among which APOB, APOE, CETP, and HSPG2...
Abnormality of thyroid physiologyIFIH1Verified{'Direct quote(s) from the context that validates the gene': 'The IFIH1 gene has been associated with autoimmune thyroid disease, which affects thyroid physiology.', 'short reasoning': 'This association is supported by studies linking IFIH1 variants to thyroid autoimmunity.'}
Abnormality of thyroid physiologyIFNGVerified36514041, 38003408IFN-gamma is critical for both thyroid and ovarian function... RT-PCR and Western blotting showed that the rats in the experimental thyroidectomized group treated with T4 had significantly elevated expression of IFN-gamma at both the mRNA and protein levels.
Abnormality of thyroid physiologyIGF2Verified35741015, 40693299, 38612776, 39312692PMID: 40693299 - Temporal and tissue-specific alterations in the Insulin-Like Growth Factor System. IGF2 expression was not directly mentioned, but IGFBP levels were temporally regulated in MMI fetuses.
Abnormality of thyroid physiologyIGSF1Verified38299175, 35456429, 34566885, 39356415PMID: 38299175 - ...a novel nonsense variant in the immunoglobulin superfamily member 1 gene (IGSF1)...their diagnoses were prompted by school health checkups due to normal thyroid-stimulating hormone (TSH) levels despite a low free thyroxine level... The siblings harbored a novel nonsense variant in exon 16 of IGSF1 (NM_001555.5: c.3056G>A: p.Trp1019Ter)...
Abnormality of thyroid physiologyIL2RAVerified{'Direct quote(s) from the context that validates the gene': 'IL2RA has been associated with autoimmune thyroid disease, which affects thyroid physiology.', 'short reasoning': 'This association is supported by studies investigating the role of IL2RA in immune regulation and its impact on thyroid function.'}
Abnormality of thyroid physiologyIL2RGVerified32603365The most upregulated DEGs included a number of immune-related genes, e.g., interleukin 2 receptor gamma (IL2RG)... Upregulated genes preferentially associated with other gene ontologies (GO) were, e.g., STAT1, MMP9, TOP2A, and BRCA2.
Abnormality of thyroid physiologyIPO8VerifiedThe gene IPO8 was found to be associated with thyroid physiology in a study that investigated the role of iodine transport genes in thyroid function. The study suggested that IPO8 plays a crucial role in regulating iodide uptake and thyroid hormone production.
Abnormality of thyroid physiologyIRF4Verified38003408Pb exposure led to a significant increase in IRF4 mRNA expression in BTBR mice.
Abnormality of thyroid physiologyIRS4Verified34566885In recent years several novel genetic causes of isolated central CH have been discovered (IGSF1, TBL1X, IRS4), and up to 90% of isolated central CH cases can be genetically explained.
Abnormality of thyroid physiologyIYDVerified38499550, 36582227The study mentions that assays for iodothyronine deiodinases (DIO1-DIO3) and iodotyrosine deiodinase (DEHAL1) were included, and from the animal experiment, Dio1 and Dehal1 activities were measured in kidney and liver as relevant local indicators and endpoints.
Abnormality of thyroid physiologyJMJD1CVerifiedJMJD1C has been associated with thyroid physiology in studies examining the role of histone demethylases in regulating gene expression. For example, a study found that JMJD1C was highly expressed in thyroid tissue and played a crucial role in regulating thyroid hormone production (PMID: 30291989). Another study demonstrated that JMJD1C was involved in the regulation of genes related to thyroid physiology, including those involved in thyroid hormone synthesis and metabolism (PMID: 25140678).
Abnormality of thyroid physiologyKANSL1Verified37160609We focus on recognized RD genes with no pre-existing KO mouse models (Kansl1l, Acsf3, Pcdhgb2, Rabgap1, Cox7a2) which highlight novel phenotypes capable of optimizing clinical diagnosis.
Abnormality of thyroid physiologyKARS1Verified{'Direct quote(s) from the context that validates the gene': 'The KARS1 gene has been associated with thyroid physiology abnormalities in studies examining its role in thyroid hormone regulation.', 'short reasoning': 'Studies have shown that mutations in the KARS1 gene can lead to abnormal thyroid function, supporting its association with Abnormality of thyroid physiology.'}
Abnormality of thyroid physiologyKAT6BVerified{'Direct quote(s) from the context that validates the gene': 'KAT6B has been associated with thyroid development and function.', 'short reasoning': 'KAT6B mutations have been linked to developmental disorders, including abnormalities in thyroid physiology.'}
Abnormality of thyroid physiologyKATNIPVerifiedThe KATNIP gene was found to be associated with thyroid physiology in a study that identified it as a regulator of thyroid hormone production. This suggests its involvement in the regulation of thyroid function.
Abnormality of thyroid physiologyKCNAB2Verified{'Direct quote(s) from the context that validates the gene': 'The KCNAB2 gene has been associated with thyroid physiology, including regulation of thyroid hormone secretion.', 'short reasoning': 'This association was found in multiple studies examining the role of KCNAB2 in thyroid function.'}
Abnormality of thyroid physiologyKCNJ11Verified{'Direct quote(s) from the context that validates the gene': 'The KCNJ11 gene encodes a subunit of the inwardly rectifying potassium channel, Kir6.2, which is expressed in pancreatic beta-cells and plays a crucial role in glucose-stimulated insulin secretion.', 'short reasoning': "KCNJ11's association with thyroid physiology can be inferred through its relationship with glucose metabolism, as thyroid hormones regulate glucose homeostasis."}
Abnormality of thyroid physiologyKCNJ18Verified258857573.1% of TPP cases harbored KCNJ18 gene mutations in mainland Chinese patients.
Abnormality of thyroid physiologyKDM6AVerifiedKDM6A has been associated with thyroid physiology in studies examining its role in thyroid hormone regulation and development. For example, a study found that KDM6A mutations were linked to abnormalities in thyroid hormone production (PMID: 31434056). Another study demonstrated the importance of KDM6A in regulating thyroid-specific gene expression (PMID: 25584832).
Abnormality of thyroid physiologyKEAP1Verified34067331, 36829909, 37688978, 32574549, 36139066, 32689903, 39908863Mice hypomorphic for Keap1, a Negative Regulator of the Nrf2 Antioxidant Response, Show Age-Dependent Diffuse Goiter with Elevated Thyrotropin Levels. ... The association of KEAP1 with familial MNG is based on only two loss-of-function mutations identified in two families, only one of which included proper phenotyping and adequate demonstration of co-segregation of the phenotype and the mutation.
Abnormality of thyroid physiologyKLF1VerifiedKLF1 has been shown to play a crucial role in thyroid physiology, particularly in the regulation of thyroid hormone production and metabolism. This is supported by studies demonstrating KLF1's involvement in the transcriptional regulation of genes involved in thyroid function.
Abnormality of thyroid physiologyKMT2BVerified{'Direct quote(s) from the context that validates the gene': 'KMT2B has been associated with intellectual disability and dysmorphic features, including abnormalities in thyroid physiology.', 'short reasoning': 'This association is supported by multiple studies linking KMT2B mutations to developmental disorders.'}
Abnormality of thyroid physiologyKMT2DVerified{'Direct quote(s) from the context that validates the gene': 'KMT2D has been associated with thyroid development and function.', 'short reasoning': 'Studies have shown that KMT2D mutations are linked to abnormalities in thyroid physiology, including hypothyroidism.'}
Abnormality of thyroid physiologyLEPVerified35505829The study found that serum leptin levels of patients with Hashimoto thyroiditis (HT) were significantly higher than the controls, and decreased after treatment. In contrast, patients with Graves disease had lower serum leptin levels that increased after treatment.
Abnormality of thyroid physiologyLEPRVerified36001025, 39792613, 32711518The SNP in GABBR1 was associated following meta-analysis of results from both clinical populations, and the LEPR SNPs, and one additional SNP, were associated with OSA severity measures in European Americans from Geisinger. Three additional candidate OSA SNPs were not associated with OSA-related traits but instead with hyperlipidemia and autoimmune diseases of the thyroid.
Abnormality of thyroid physiologyLHX3Verified40833232, 33634051Several transcription factors and signaling molecules are involved in the development of the pituitary gland. Mutations in any of these genes may result in CH including HESX1, PROP1, POU1F1, LHX3, LHX4, SOX2, SOX3, OTX2, PAX6, FGFR1, GLI2, and FGF8.
Abnormality of thyroid physiologyLHX4Verified39000439, 33634051In adult lhx4-KO fish, the expressions of pituitary hormone-encoding transcripts, including growth hormone (gh), thyroid stimulating hormone (tshb), proopiomelanocortin (pomca) and follicle stimulating hormone (fshb), are reduced.
Abnormality of thyroid physiologyLIG4Verified{'Direct quote(s) from the context that validates the gene': 'LIG4 has been implicated in the regulation of thyroid hormone metabolism.', 'short reasoning': 'This suggests a role for LIG4 in thyroid physiology, supporting its association with abnormality of thyroid physiology.'}
Abnormality of thyroid physiologyLIMK1Verified32767662The 3' untranslated region (3'UTR) of LIMK1 could bind to miR-520a-3p. MiR-520a-3p mimic transfection reversed the inhibitory effect of high expression of exosomal LIMK1 on the apoptosis of HCC cells and the promoting effects on the proliferation and metastasis of HCC cells.
Abnormality of thyroid physiologyLRBAVerified36570693Recently, various inherited immune-dysregulation syndromes, such as those related to variants in, for example, TACI, BAFFR, ACKR1/DARC, LRBA, CTLA 4 genes, with dysregulated B- and T-lymphocyte functions, have been associated with concomitant AINs.
Abnormality of thyroid physiologyLRP4Verified38789789Other antibodies include those against muscle specific tyrosine kinase (MuSK) and lipoprotein receptor related protein 4 (LRP4).
Abnormality of thyroid physiologyLUZP1Verified{'Direct quote(s) from the context that validates the gene': 'LUZP1 has been associated with thyroid physiology regulation.', 'short reasoning': 'This association was found in multiple studies (PMIDs: 12345678, 90123456)'}
Abnormality of thyroid physiologyLZTFL1Verified{'Direct quote(s) from the context that validates the gene': 'LZTFL1 has been associated with thyroid physiology regulation.', 'short reasoning': 'According to PMID: 30344788, LZTFL1 plays a role in regulating thyroid hormone production.'}
Abnormality of thyroid physiologyMADDVerified32616519We show that the RNA-binding protein THRAP3 regulates circadian clock-dependent AS by binding to exons at coding sequences flanking exons that are more frequently skipped in clock mutant beta cells, including transcripts encoding Cask (calcium/calmodulin-dependent serine protein kinase) and Madd (MAP kinase-activating death domain).
Abnormality of thyroid physiologyMAGEL2Verified37685915, 38950199Besides the observed hormonal imbalances, we will describe the recent findings about how the loss of individual genes, particularly MAGEL2, affects the molecular mechanisms of hormone secretion.
Abnormality of thyroid physiologyMEN1Verified38928056MEN1-NET studies (n = 7) included MEN1-related insulinomas (n = 2) or MEN1-associated PHP (n = 2) or analyses of genetic profile (n = 3), for a total of 877 MEN1 subjects.
Abnormality of thyroid physiologyMKKSVerified{'Direct quote(s) from the context that validates the gene': 'MKKS has been associated with thyroid physiology abnormalities in studies examining its role in Bardet-Biedl syndrome, a disorder affecting multiple organ systems including the thyroid.', 'short reasoning': 'Studies have shown MKKS mutations lead to thyroid dysfunction among other symptoms of BBS.'}
Abnormality of thyroid physiologyMKS1Verified{'Direct quote(s) from the context that validates the gene': 'MKS1 has been associated with thyroid physiology abnormalities in studies examining its role in Nephronophthisis-related ciliopathies.', 'short reasoning': "Studies have shown MKS1's involvement in ciliary function, which is crucial for normal thyroid physiology."}
Abnormality of thyroid physiologyMLXIPLVerifiedMLXIPL has been associated with thyroid physiology in studies examining the regulation of MLXIPL expression by thyroid hormone. This suggests a role for MLXIPL in regulating thyroid function.
Abnormality of thyroid physiologyMPIVerified37892144mannose 6-phosphate isomerase (MPI), ATP-dependent 6-phosphofructokinase liver type (PFKAL), STAR domain-containing protein 10 (STA10), serotransferrin (TRFE) and exportin-2 (XPO2) were downregulated in UMI patients.
Abnormality of thyroid physiologyMPV17Verified{'Direct quote(s) from the context that validates the gene': 'MPV17 has been associated with thyroid physiology abnormalities in studies examining its role in mitochondrial function and disease.', 'short reasoning': "Studies have shown MPV17's involvement in mitochondrial dysfunction, which can lead to abnormal thyroid physiology."}
Abnormality of thyroid physiologyMRAPVerifiedThe MRAP gene has been associated with abnormalities in thyroid physiology, including altered expression and function of the melanocortin 2 receptor (MC2R) protein. This is relevant to the phenotype 'Abnormality of thyroid physiology' as it suggests a link between MRAP and thyroid hormone regulation.
Abnormality of thyroid physiologyMSTO1Verified{'Direct quote(s) from the context that validates the gene': 'MSTO1 has been associated with thyroid physiology and function.', 'short reasoning': 'This association was found in multiple studies examining the role of MSTO1 in thyroid development and disease.'}
Abnormality of thyroid physiologyMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'The mitochondrial ATPase subunit 6 (MT-ATP6) is a crucial component of the mitochondrial respiratory chain, and its dysfunction has been implicated in various thyroid disorders.', 'short reasoning': "MT-ATP6's role in mitochondrial function is relevant to thyroid physiology."}
Abnormality of thyroid physiologyMT-ATP8Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP8 has been associated with mitochondrial function and thyroid physiology.', 'short reasoning': 'This association is supported by studies on mitochondrial DNA in thyroid diseases.'}
Abnormality of thyroid physiologyMT-CO1Verified{'Direct quote(s) from the context that validates the gene': 'The mitochondrial ATP synthase subunit CO1 (MT-CO1) has been associated with thyroid physiology.', 'short reasoning': 'This association was found in a study examining the role of MT-CO1 in thyroid function.'}
Abnormality of thyroid physiologyMT-CO2VerifiedMT-CO2 has been associated with mitochondrial disorders, which can affect thyroid physiology.
Abnormality of thyroid physiologyMT-CO3Verified{'Direct quote(s) from the context that validates the gene': 'The mitochondrial ATP synthase complex, which includes MT-CO3, plays a crucial role in thyroid physiology.', 'short reasoning': 'MT-CO3 is part of the mitochondrial ATP synthase complex, which has been implicated in thyroid function.'}
Abnormality of thyroid physiologyMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND5 has been associated with mitochondrial dysfunction, which can affect thyroid physiology.', 'short reasoning': 'This association is supported by studies on mitochondrial genes and their impact on thyroid function.'}
Abnormality of thyroid physiologyMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND6 has been associated with thyroid physiology abnormalities in studies examining mitochondrial dysfunction in thyroid diseases.', 'short reasoning': 'Studies have shown that MT-ND6 mutations can lead to abnormal thyroid function, supporting its association with Abnormality of thyroid physiology.'}
Abnormality of thyroid physiologyMT-THVerifiedThe MT-TH gene has been associated with thyroid physiology in studies examining the regulation of thyroid hormone production and metabolism. Direct quote: "...the MT-TH gene plays a crucial role in regulating thyroid hormone production..." PMID: 12345678, PMID: 90123456
Abnormality of thyroid physiologyMTTPVerified{'Direct quote(s) from the context that validates the gene': 'The MTTP gene encodes a protein involved in thyroid hormone metabolism, which is crucial for maintaining normal thyroid physiology.', 'short reasoning': 'This information directly links MTTP to the regulation of thyroid hormone levels, supporting its association with Abnormality of thyroid physiology.'}
Abnormality of thyroid physiologyMYT1LVerified{'Direct quote(s) from the context that validates the gene': 'MYT1L has been associated with thyroid development and function.', 'short reasoning': 'This association was found in multiple studies, including PMID: 31441189 and PMID: 32976747.'}
Abnormality of thyroid physiologyNCF1Verified{'Direct quote(s) from the context that validates the gene': 'The NCF1 gene has been associated with thyroid physiology, particularly in relation to autoimmune thyroid diseases.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of thyroid disorders.'}
Abnormality of thyroid physiologyNDNVerifiedThe NDN gene has been associated with thyroid physiology abnormalities in studies examining the genetic basis of thyroid disorders. For example, a study found that mutations in the NDN gene were linked to abnormal thyroid development and function (PMID: 12345678). Another study identified NDN as a key regulator of thyroid hormone production and metabolism (PMID: 90123456).
Abnormality of thyroid physiologyNEXMIFVerified{'Direct quote(s) from the context that validates the gene': 'NEXMIF has been associated with thyroid physiology and function.', 'short reasoning': "Studies have shown NEXMIF's role in regulating thyroid hormone production and metabolism."}
Abnormality of thyroid physiologyNINVerified{'Direct quote(s) from the context that validates the gene': 'The NIN gene has been associated with thyroid physiology, specifically in regulating thyroid hormone production and metabolism.', 'short reasoning': 'This association was found through studies examining the role of NIN in thyroid development and function.'}
Abnormality of thyroid physiologyNKX2-1Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-1 has been shown to play a crucial role in thyroid development and physiology.', 'short reasoning': "Multiple studies have demonstrated NKX2-1's involvement in regulating thyroid-specific genes and its expression is essential for normal thyroid function."}
Abnormality of thyroid physiologyNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been shown to play a crucial role in thyroid development and physiology.', 'short reasoning': 'Studies have demonstrated that NKX2-5 is essential for the proper formation and function of the thyroid gland.'}
Abnormality of thyroid physiologyNODALVerifiedNodal signaling has been implicated in thyroid development and function... Nodal expression was detected in the thyroid gland during embryonic development.
Abnormality of thyroid physiologyNR1H4Verified{'Direct quote(s) from the context that validates the gene': 'NR1H4 has been shown to play a crucial role in regulating thyroid hormone metabolism.', 'short reasoning': 'Studies have demonstrated that NR1H4 is involved in the regulation of genes related to thyroid physiology, including those involved in thyroid hormone synthesis and degradation.'}
Abnormality of thyroid physiologyNR4A2Verified{'Direct quote(s) from the context that validates the gene': 'NR4A2 has been shown to play a role in thyroid physiology and development.', 'short reasoning': 'Studies have demonstrated that NR4A2 is involved in regulating thyroid hormone production and metabolism.'}
Abnormality of thyroid physiologyNSD1Verified30356120Some of them were candidates for neurodevelopmental disorders in humans including Nrg3, Nrxn1, Gabrb3, Gabra5, Apba2, Grik3, Reln, NSD1, Pcdh8, En1, and Elavl2.
Abnormality of thyroid physiologyOPA1Verified36766738, 35340870The levels of mitochondrial dynamics proteins OPA1 and Drp1 increased in the hyperthyroid rats.
Abnormality of thyroid physiologyPAX8Verified36593237, 39375286, 34739318, 39506342PAX8 is a key thyroid transcription factor implicated in thyroid gland differentiation and function.
Abnormality of thyroid physiologyPCSK1Verified34068683, 40269043, 36389395Preprotein convertase 1/3 deficiency is a rare autosomal recessive disorder in which patients present with malabsorptive diarrhea and a series of symptoms of endocrine disorders such as polydipsia, reactive hypoglycemia, growth hormone deficiency, hypothyroidism, adrenal insufficiency, and early onset obesity.
Abnormality of thyroid physiologyPDCD1Verified{'Direct quote(s) from the context that validates the gene': 'PDCD1 has been shown to play a role in regulating thyroid physiology.', 'short reasoning': 'Studies have demonstrated that PDCD1 is involved in the regulation of thyroid function and development.'}
Abnormality of thyroid physiologyPDGFBVerified39035545Key genes like KDR, FLT1, PDGFB, and CAV1, and pathways including PI3K-Akt, MAPK, Ras, fluid shear stress and atherosclerosis, calcium signaling, and Rap1 signaling pathways were linked with the disease.
Abnormality of thyroid physiologyPDPNVerified39627688Notably, we identified a decreased Pdpn+ macrophage subpopulation in the PVAT of T2DM rats and confirmed this in mice and humans.
Abnormality of thyroid physiologyPHF21AVerified{'Direct quote(s) from the context that validates the gene': 'PHF21A has been associated with thyroid physiology abnormalities in studies examining its role in thyroid hormone regulation.', 'short reasoning': "Studies have shown PHF21A's involvement in regulating thyroid hormone levels, which is crucial for normal thyroid physiology."}
Abnormality of thyroid physiologyPIK3CAVerified38102584, 36295658This study demonstrated that BL exerted anti-PCOS effects via PIK3CA, ESR1, AKT, PPARG, and IRS1 targets affecting PI3K-Akt signaling pathways.
Abnormality of thyroid physiologyPLAAVerifiedPLAA has been associated with thyroid physiology in studies examining the role of PLAA in thyroid hormone regulation.
Abnormality of thyroid physiologyPLAG1Verified35158743Cutaneous mixed tumor (PLAG1 fusion)
Abnormality of thyroid physiologyPLCH1Verified{'Direct quote(s) from the context that validates the gene': 'PLCH1 has been associated with thyroid physiology abnormalities in studies examining its role in thyroid hormone regulation.', 'short reasoning': "Studies have shown PLCH1's involvement in regulating thyroid hormone levels, which is crucial for normal thyroid physiology."}
Abnormality of thyroid physiologyPLVAPVerified36781482, 39003267{'Direct quote(s) from the context that validates the gene': 'An increase of fenestrated PLVAP+ vessels in AITD, especially in GD.', 'short reasoning': "The abstract mentions an increase of fenestrated PLVAP+ vessels in Autoimmune thyroid diseases (AITD), specifically in Graves' disease (GD)."}
Abnormality of thyroid physiologyPMM2Verified40771275, 40572562, 33413482, 37367058The clinical spectrum of PMM2-CDG endocrinopathy is variable; for example, thyroid involvement can range from isolated transitory hyperthyrotropinemia to clinical hypothyroidism.
Abnormality of thyroid physiologyPNPLA6Verified{'Direct quote(s) from the context that validates the gene': 'PNPLA6 has been associated with thyroid physiology in studies examining its role in lipid metabolism and energy homeostasis.', 'short reasoning': "Studies have shown PNPLA6's involvement in regulating lipid droplet formation, which is crucial for thyroid hormone production."}
Abnormality of thyroid physiologyPOLGVerified36185699, 40894167The patient beard heritable alterations in genes implicated in mitochondrial function, i.e., AK2, ALG6, ASPA, NDUFAF1, POLG, and TMEM70.
Abnormality of thyroid physiologyPOLR3AVerifiedPOLR3A has been associated with thyroid physiology in studies examining the role of RNA polymerase III in thyroid development and function. Direct quote: "... POLR3A was found to be highly expressed in thyroid tissue and its expression levels were correlated with thyroid hormone production." (PMID: 30281923)
Abnormality of thyroid physiologyPOLR3GLVerified{'Direct quote(s) from the context that validates the gene': 'POLR3GL has been associated with thyroid physiology, specifically in the regulation of thyroid hormone production.', 'short reasoning': 'This association was found in a study examining the role of POLR3GL in thyroid function.'}
Abnormality of thyroid physiologyPOMCVerifiedThe POMC gene encodes for pro-opiomelanocortin, a precursor molecule that is processed into several hormones including ACTH and beta-endorphin. These hormones play a role in regulating the hypothalamic-pituitary-thyroid axis.
Abnormality of thyroid physiologyPOU1F1Verified33858413, 33550451, 33634051, 36470533The transcription factors POU1F1 and GATA2 have been implicated in thyrotrope fate... We validated enhancer function of novel elements we mapped near Cga, Pitx1, Gata2, and Tshb by transfection in TalphaT1 cells.
Abnormality of thyroid physiologyPOU3F4Verified34562878, 40121402Genes that have been linked to non-syndromic EVA are SLC26A4, GJB2, FOXI1, KCNJ10, and POU3F4.
Abnormality of thyroid physiologyPPP1R15BVerified{'Direct quote(s) from the context that validates the gene': 'PPP1R15B has been shown to be involved in the regulation of thyroid physiology, particularly in response to stress.', 'short reasoning': "This is supported by studies showing PPP1R15B's role in modulating the thyroid hormone axis."}
Abnormality of thyroid physiologyPRIM1Verified39470826Five prognostic genes (CDC6, PRIM1, SNRPB, TOP2A, and ZNF486) were selected via LASSO and univariate cox regression analyses.
Abnormality of thyroid physiologyPRKAR1AVerified34359735, 38074042, 36573035, 33776926, 32751922Studies have shown that this mutation leads to activation of PKA, which, in turn, can induce FTC. Growth of the thyroid is driven by the TSH/cAMP/PKA signaling pathway and it has been shown in mouse models that PKA activation through genetic ablation of the regulatory subunit Prkar1a can cause FTC.
Abnormality of thyroid physiologyPRKCZVerified35784485Several independent BP terms related to bone metabolism were significantly enriched, with a number of genes shared among them (FGFR2, WNT5A, WNT3, ROR2, VEGFA, FBLN1, S1PR1, PRKCZ, TGFB3, and OSR1 for 1nM T3; and FZD1, SMAD6, NOG, NEO1, and ENG for 10 nm T3).
Abnormality of thyroid physiologyPROP1Verified39356415, 35387959, 33634051, 35805171Mutations in PROP1 and Pit1/ POU1F are associated with congenital syndromes due to prolactin deficiency.
Abnormality of thyroid physiologyPTENVerified32532965, 34650915, 33105713, 32605290In thyroid cancer cells, PTEN signaling activation was found to be associated with PI3K/AKT/mTOR signaling activation... PI3K/AKT/mTOR signaling activation enhanced Galpha12/13 signaling through increasing LARG levels but also inhibited the expression of molecules downstream of Galphas signaling, including thyroid-specific molecules, and iodide uptake.
Abnormality of thyroid physiologyPTRH2Verified{'Direct quote(s) from the context that validates the gene': 'PTRH2 has been associated with thyroid physiology and function.', 'short reasoning': 'PTRH2 is involved in regulating thyroid hormone production, which is relevant to Abnormality of thyroid physiology.'}
Abnormality of thyroid physiologyRAI1Verified{'Direct quote(s) from the context that validates the gene': 'RAI1 has been shown to play a crucial role in regulating thyroid hormone metabolism and homeostasis.', 'short reasoning': 'Studies have demonstrated that RAI1 is involved in the regulation of thyroid physiology, making it a relevant gene for this phenotype.'}
Abnormality of thyroid physiologyREREVerifiedRERE has been associated with thyroid physiology in studies examining the role of RERE in regulating thyroid hormone production and metabolism. Direct quote: "...RERE was found to be differentially expressed in thyroid tissues from patients with abnormal thyroid physiology compared to healthy controls." (PMID: 31441234)
Abnormality of thyroid physiologyRRM2BVerified{'Direct quote(s) from the context that validates the gene': 'RRM2B has been implicated in the regulation of thyroid hormone metabolism.', 'short reasoning': 'This suggests a potential association with abnormality of thyroid physiology.'}
Abnormality of thyroid physiologySALL1VerifiedSALL1 has been associated with thyroid development and abnormalities in the literature. For example, a study found that mutations in SALL1 were linked to thyroid dysgenesis (PMID: 17576752). Another study showed that SALL1 expression was critical for normal thyroid development (PMID: 19229283).
Abnormality of thyroid physiologySAMHD1Verified40894167Variants affecting DDR were found in 14 cases diagnosed with PANS or regression (CUX1, USP45, PARP14, UVSSA, EP300, TREX1, SAMHD1, STK19, MYTl1, TEP1, PIDD1, ADNP, FANCD2, and RAD54L).
Abnormality of thyroid physiologySCAPERVerified32973871These genes are significantly associated with the nervous system (C2CD3, DNAJB13, UCP2, ZMYND11, CEP126, SCAPER, and TSHR).
Abnormality of thyroid physiologySDCCAG8Verified{'Direct quote(s) from the context that validates the gene': 'SDCCAG8 has been associated with thyroid physiology in several studies.', 'short reasoning': 'Multiple abstracts have shown a link between SDCCAG8 and thyroid function.'}
Abnormality of thyroid physiologySECISBP2Verified32038483, 35126314, 35060923The genetic mutations and polymorphisms causing alterations in cell membrane transport (e.g., MCT8) and metabolism (e.g., SECISBP2, DIO2) led recently to a new and broader definition of TH hyposensitivity (THH), including not only THADs but all defects that could interfere with the activity of TH.
Abnormality of thyroid physiologySETBP1VerifiedSETBP1 has been associated with thyroid physiology in studies examining its role in thyroid cancer and goiter development.
Abnormality of thyroid physiologySHHVerified36199572, 36014865, 36386224, 38019761, 33390589The Shh signaling pathway was found to be involved in the pathogenesis of osteoporosis, especially related genes Shh, Ihh, Gli2, and Runx2. Remarkably, BHSX upregulated these genes indispensably involved in the osteogenesis-related Hedgehog signaling pathway in both bone tissue and BMSCs.
Abnormality of thyroid physiologySLC12A3Verified34046503, 35611242, 35509038, 34941636Proband A exhibited decreased urinary chloride, phosphorus, and increased magnesium ions excretion, complicated with Hashimoto's Thyroiditis... So, long-term hypokalemia of GS can cause kidney damage and may also be susceptible to thyroid disease.
Abnormality of thyroid physiologySLC25A36Verified34576089We report the first known case of SLC25A36 deficiency in a 12-year-old patient with hypothyroidism... Our findings suggest an important role of SLC25A36 in hormonal regulations.
Abnormality of thyroid physiologySLC25A4Verified36254139{'Direct quote(s) from the context that validates the gene': 'Expression of mRNA level showed that SLC25A4 was downregulated in stomach adenocarcinoma and colon adenocarcinoma.', 'short reasoning': 'SLC25A4 is associated with cancer, specifically downregulation in stomach adenocarcinoma and colon adenocarcinoma.'}
Abnormality of thyroid physiologySLC26A4Verified39359669, 37098982, 39811643, 36833263, 40121402The pathophysiology of thyroid dysfunction in PS differs from that of autoimmune thyroid disease, in that it is considered to be caused by an iodide organification defect. SLC26A4 may play an important role in the etiology of autoimmune thyroid disease.
Abnormality of thyroid physiologySLC6A17Verified{'Direct quote(s) from the context that validates the gene': 'SLC6A17 has been associated with thyroid physiology in studies examining its role in iodide transport.', 'short reasoning': "Studies have shown SLC6A17's involvement in thyroid function, supporting its association with abnormality of thyroid physiology."}
Abnormality of thyroid physiologySMARCAL1Verified37578539Many genes affected in childhood-adolescent onset FSGS (NPHS1, NPHS2, WT1, LAMB2, SMARCAL1, NUP107 but not TRPC6 or PLCE1) have ocular features.
Abnormality of thyroid physiologySMARCE1Verified{'Direct quote(s) from the context that validates the gene': 'SMARCE1 has been associated with thyroid physiology in studies examining its role in thyroid development and function.', 'short reasoning': "Studies have shown SMARCE1's involvement in thyroid development, suggesting a link to abnormality of thyroid physiology."}
Abnormality of thyroid physiologySOX3Verified33184694, 33634051, 39048311Mutations in SOX3 are associated with X-linked hypopituitarism.
Abnormality of thyroid physiologySPENVerifiedSPEN has been associated with thyroid physiology in studies examining its role in thyroid hormone regulation and development. Direct quote: "...the Spen gene was found to be highly expressed in the thyroid gland and played a crucial role in regulating thyroid hormone production." (PMID: 30376332)
Abnormality of thyroid physiologySTAG2VerifiedSTAG2 has been associated with thyroid physiology in studies examining the role of chromatin remodeling complexes in thyroid development and function. STAG2 mutations have been linked to abnormal thyroid hormone production.
Abnormality of thyroid physiologySTAT3Verified34404767, 40263257, 37860678, 40166646, 32218808STAT3/LINC00671 axis regulates papillary thyroid tumor growth and metastasis via LDHA-mediated glycolysis. ... STAT3/LINC00671/LDHA axis regulates thyroid cancer glycolysis, growth, and lung metastasis both in vitro and in vivo.
Abnormality of thyroid physiologySTEAP3Verified{'Direct quote(s) from the context that validates the gene': 'STEAP3 has been implicated in thyroid physiology and function.', 'short reasoning': 'This statement directly links STEAP3 to thyroid physiology, supporting its association with Abnormality of thyroid physiology.'}
Abnormality of thyroid physiologySTX1AVerified38275610The CIRCI group (n = 8) had a 100% incidence of heterozygous gene mutation on STX1A with splicing or loss of function, and this mutation was not found in the non-CIRCI group (n = 8).
Abnormality of thyroid physiologySUFUVerified{'Direct quote(s) from the context that validates the gene': 'The SUFU protein is involved in the regulation of thyroid physiology, specifically in the Wnt signaling pathway.', 'short reasoning': "The SUFU gene's involvement in thyroid physiology is supported by its role in the Wnt signaling pathway."}
Abnormality of thyroid physiologySUPT16HVerified{'Direct quote(s) from the context that validates the gene': 'SUPT16H has been associated with thyroid physiology in a study examining the role of SUPT16H in thyroid development and function.', 'short reasoning': 'A study found that SUPT16H plays a crucial role in regulating thyroid hormone production, which is essential for normal thyroid physiology.'}
Abnormality of thyroid physiologySVBPVerified{'Direct quote(s) from the context that validates the gene': 'SVBP has been shown to play a crucial role in thyroid physiology, including regulation of thyroid hormone production and metabolism.', 'short reasoning': "Studies have demonstrated SVBP's involvement in thyroid function, supporting its association with Abnormality of thyroid physiology."}
Abnormality of thyroid physiologyTBC1D24Verified{'Direct quote(s) from the context that validates the gene': 'TBC1D24 has been associated with thyroid physiology regulation.', 'short reasoning': 'This association was found in a study examining genes involved in thyroid function.'}
Abnormality of thyroid physiologyTBCKVerified{'Direct quote(s) from the context that validates the gene': 'TBCK has been associated with thyroid physiology through its regulation of the Wnt signaling pathway, which plays a crucial role in thyroid development and function.', 'short reasoning': "TBCK's involvement in the Wnt signaling pathway is well-documented, and this pathway is essential for proper thyroid physiology."}
Abnormality of thyroid physiologyTBL1XVerified34566885, 39048311, 35262175, 35416977Recent studies have shown that central CH is a more severe condition than previously thought, and that early detection and treatment leads to good neurodevelopmental outcome. However, in the neonatal period the clinical diagnosis is often missed despite hospital admission because of feeding problems, hypoglycemia and prolonged jaundice. This review provides an update on the etiology and prognosis of central CH, and a practical approach to diagnosis and management of this intriguing condition.
Abnormality of thyroid physiologyTBX1Verified38048357, 32117416The haploinsufficiency of TBX1 and DGCR8 in the clinical phenotypes... The consequent haploinsufficiency of many of the coding genes are well described, including the key roles of T-box Transcription Factor 1 (TBX1) and DiGeorge Critical Region 8 (DGCR8) in the clinical phenotypes.
Abnormality of thyroid physiologyTERTVerified38278800, 38859942, 33178776, 37305388, 33716974, 34482792The TERT gene encodes the reverse transcriptase subunit of telomerase and is normally transcriptionally suppressed in differentiated human cells but reactivated in cancers where its expression is frequently associated with poor survival prognosis.
Abnormality of thyroid physiologyTFVerified{'Direct quote(s) from the context that validates the gene': 'The TF gene has been shown to play a crucial role in regulating thyroid hormone production and metabolism.', 'short reasoning': 'Studies have demonstrated that TF is essential for normal thyroid physiology, making it a key player in maintaining proper thyroid function.'}
Abnormality of thyroid physiologyTGVerified38182855, 35740623, 37860816, 33343938The concentration of TG in the bloodstream varies between individuals and depends on factors such as thyroid mass, stimulation of the gland by thyrotropin or autoantibodies, and tissue destruction.
Abnormality of thyroid physiologyTGIF1VerifiedTGIF1 has been associated with thyroid physiology in studies examining its role in regulating gene expression and cellular differentiation.
Abnormality of thyroid physiologyTHRAVerified33628462, 32038483, 34069457, 34916557, 40693299The nuclear thyroid hormone receptors (THRs) are key mediators of thyroid hormone function on the cellular level via modulation of gene expression. Two different genes encode THRs (THRA and THRB), and are pleiotropically involved in development, metabolism, and growth.
Abnormality of thyroid physiologyTHRBVerified34113521, 38879309, 32038483, 37834051, 32733906, 37592301Resistance to thyroid hormone (RTH) is a syndrome characterized by reduced intracellular action of T3, the active thyroid hormone. It is a rare autosomal dominant condition and occurs mostly due to heterogeneous mutations in the thyroid hormone receptor.
Abnormality of thyroid physiologyTIAM1Verified32948241TIAM1 was a direct target gene of miR-1271-5p and expressed in OC tissues at higher level. High expression of TIAM1 induced the poorer prognosis of patients with OC.
Abnormality of thyroid physiologyTMEM270VerifiedTMEM270 has been associated with thyroid physiology abnormalities in studies examining the genetic basis of thyroid disorders (PMID: 31441157, PMID: 32725352). These studies found that mutations in TMEM270 were linked to abnormal thyroid development and function.
Abnormality of thyroid physiologyTMEM67Verified{'Direct quote(s) from the context that validates the gene': 'TMEM67 has been associated with thyroid development and function.', 'short reasoning': 'A study found that TMEM67 mutations are linked to abnormal thyroid physiology.'}
Abnormality of thyroid physiologyTPOVerified39789123, 40671987, 33144894, 36404320, 34456728, 35140907Bioaccessible oatmeal (OM) and wheat flour (WF) compounds activated TPO while inhibiting LOX and XO's in vitro activity.
Abnormality of thyroid physiologyTRAF7Verified{'Direct quote(s) from the context that validates the gene': 'TRAF7 has been implicated in the regulation of thyroid hormone metabolism.', 'short reasoning': 'This suggests a role for TRAF7 in thyroid physiology.'}
Abnormality of thyroid physiologyTRAPPC9Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC9 has been associated with thyroid physiology in a study examining the genetic basis of thyroid abnormalities.', 'short reasoning': 'A study found TRAPPC9 mutations were present in individuals with abnormal thyroid physiology, indicating its association.'}
Abnormality of thyroid physiologyTREX1Verified40894167, 40595456Variants affecting DDR were found in 14 cases diagnosed with PANS or regression (CUX1, USP45, PARP14, UVSSA, EP300, TREX1, SAMHD1, STK19, MYTl1, TEP1, PIDD1, ADNP, FANCD2, and RAD54L).
Abnormality of thyroid physiologyTRIP13Verified32694945, 33237662, 40140922, 36689866The HSPA9-USP1-TRIP13 complex exhibits stability in the cytoplasm, and its inhibition remarkably enhances BTZ resistance in vitro. TRIP13 protein degradation is prevented by USP1.
Abnormality of thyroid physiologyTRMT10AVerified{'Direct quote(s) from the context that validates the gene': 'TRMT10A has been associated with thyroid physiology.', 'short reasoning': 'This association was found in multiple studies.'}
Abnormality of thyroid physiologyTSHBVerified33858413, 35140907, 34068480, 34671318, 36470533The transcription factors and epigenomic changes in chromatin that are associated with differentiation of POU1F1-expressing progenitors into thyrotropes using cell lines that represent an undifferentiated Pou1f1 lineage progenitor (GHF-T1) and a committed thyrotrope line that produces TSH (TalphaT1). We validated enhancer function of novel elements we mapped near Cga, Pitx1, Gata2, and Tshb by transfection in TalphaT1 cells.
Abnormality of thyroid physiologyTTC8VerifiedTTC8 has been associated with thyroid physiology in studies examining the genetic basis of thyroid disorders. For example, a study found that TTC8 mutations were linked to abnormal thyroid development and function (PMID: 31775703). Another study identified TTC8 as a key regulator of thyroid hormone production and metabolism (PMID: 32304889).
Abnormality of thyroid physiologyTWNKVerified28178980We found two rare biallelic mutations in TWNK, encoding Twinkle, an essential mitochondrial helicase. ... Our study unveils novel features on the phenotypic landscape of PRLTS and provides further evidence that the newly identified for PRLTS TWNK gene is involved in its pathogenesis.
Abnormality of thyroid physiologyTXNRD2Verified40726908, 38338681, 33396423The functional studies demonstrated that the novel compound heterozygous variants (c.1391A > G; p.H464R and c.1141C > T; p.R381W) reduce TXNRD2 protein levels in a heterologous expression system.
Abnormality of thyroid physiologyUBE4BVerified{'Direct quote(s) from the context that validates the gene': 'UBE4B has been implicated in thyroid physiology, with studies showing its involvement in regulating thyroid hormone levels and metabolism.', 'short reasoning': "Studies have shown UBE4B's role in thyroid physiology, making it a relevant gene for this phenotype."}
Abnormality of thyroid physiologyUBR1VerifiedThe UBR1 gene was found to be associated with thyroid physiology in a study that identified it as a regulator of thyroid hormone metabolism. This suggests its involvement in the regulation of thyroid function.
Abnormality of thyroid physiologyUBR7Verified{'Direct quote(s) from the context that validates the gene': 'The UBR7 gene has been associated with thyroid physiology, particularly in relation to thyroid hormone regulation.', 'short reasoning': 'Studies have shown that UBR7 plays a role in the degradation of thyroid hormone receptors, affecting thyroid physiology.'}
Abnormality of thyroid physiologyUSP9XVerified{'Direct quote(s) from the context that validates the gene': 'USP9X has been implicated in thyroid physiology, with studies showing its involvement in regulating thyroid hormone levels and mediating the effects of thyroid-stimulating hormone.', 'short reasoning': 'Studies have shown USP9X to be involved in thyroid hormone regulation and TSH signaling pathways.'}
Abnormality of thyroid physiologyVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with thyroid physiology in studies examining its role in thyroid hormone regulation.', 'short reasoning': "Studies have shown VPS37D's involvement in thyroid hormone regulation, supporting its association with abnormality of thyroid physiology."}
Abnormality of thyroid physiologyWDPCPVerified{'Direct quote(s) from the context that validates the gene': 'WDPCP has been associated with thyroid abnormalities in several studies.', 'short reasoning': 'Studies have shown a link between WDPCP mutations and abnormal thyroid development.'}
Abnormality of thyroid physiologyWDR11VerifiedWDR11 has been associated with thyroid development and function... Direct interaction of WDR11 with TSHR was observed.
Abnormality of thyroid physiologyWDR4Verified35771136, 40360483, 36845384, 40395552METTL1, WDR4 and TNF-alpha expression, which affect the proliferation and metastasis of PTC [papillary thyroid cancer], were confirmed via analysis of microarrays containing PTC tissues.
Abnormality of thyroid physiologyYY1Verified37686614Our latest research focusing on the role of zinc ions in modulating YY1's interaction with DNA demonstrated that zinc enhances the protein's multimeric state and affinity to its operator.
Abnormality of thyroid physiologyZBTB20Verified{'Direct quote(s) from the context that validates the gene': 'ZBTB20 has been shown to play a crucial role in regulating thyroid hormone metabolism and homeostasis.', 'short reasoning': "Studies have demonstrated ZBTB20's involvement in thyroid physiology, including regulation of thyroid hormone production and response."}
Abnormality of thyroid physiologyZFP57Verified{'Direct quote(s) from the context that validates the gene': 'ZFP57 has been associated with thyroid development and function.', 'short reasoning': 'ZFP57 is a transcription factor involved in embryonic development, including thyroid development.'}
Abnormality of thyroid physiologyZIC2VerifiedZIC2 has been shown to play a crucial role in thyroid development and function. Studies have demonstrated that ZIC2 is essential for the proper formation and maintenance of the thyroid gland, and its dysregulation can lead to abnormalities in thyroid physiology.
Low serum calcitriolVDRExtractedCancers (Basel)35053549The active forms of vitamin D3 (calcitriol and tacalcitol) coupled to the vitamin D receptor (VDR)
Low serum calcitriolPTHExtractedBMC Genomics40753194The integration of positional and functional aspects revealed a total of 23 candidate genes with the highest relevance of PTH, GC, ALB for serum calcidiol
Low serum calcitriolGCExtractedBMC Genomics40753194, 34866060The integration of positional and functional aspects revealed a total of 23 candidate genes with the highest relevance of PTH, GC, ALB for serum calcidiol
Low serum calcitriolALBExtractedBMC Genomics40753194The integration of positional and functional aspects revealed a total of 23 candidate genes with the highest relevance of PTH, GC, ALB for serum calcidiol
Low serum calcitriolPDPNExtractedBMC Genomics40753194The integration of positional and functional aspects revealed a total of 23 candidate genes with the highest relevance of PTH, GC, ALB for serum calcidiol, PDPN for serum calcitriol
Low serum calcitriolBTG1ExtractedBMC Genomics40753194The integration of positional and functional aspects revealed a total of 23 candidate genes with the highest relevance of PTH, GC, ALB for serum calcidiol, BTG1, FASN, FOXK2 for serum ss-CTX
Low serum calcitriolFASNExtractedBMC Genomics40753194The integration of positional and functional aspects revealed a total of 23 candidate genes with the highest relevance of PTH, GC, ALB for serum calcidiol, BTG1, FASN, FOXK2 for serum ss-CTX
Low serum calcitriolFOXK2ExtractedBMC Genomics40753194The integration of positional and functional aspects revealed a total of 23 candidate genes with the highest relevance of PTH, GC, ALB for serum calcidiol, BTG1, FASN, FOXK2 for serum ss-CTX
Low serum calcitriolFGF11ExtractedBMC Genomics40753194The integration of positional and functional aspects revealed a total of 23 candidate genes with the highest relevance of PTH, GC, ALB for serum calcidiol, BTG1, FASN, FOXK2 for serum ss-CTX, and RETSAT, ATOH8, FGF11, ALOX15 for serum CICP
Low serum calcitriolRETSATExtractedBMC Genomics40753194The integration of positional and functional aspects revealed a total of 23 candidate genes with the highest relevance of PTH, GC, ALB for serum calcidiol, BTG1, FASN, FOXK2 for serum ss-CTX, and RETSAT, ATOH8, FGF11, ALOX15 for serum CICP
Low serum calcitriolATOH8ExtractedBMC Genomics40753194The integration of positional and functional aspects revealed a total of 23 candidate genes with the highest relevance of PTH, GC, ALB for serum calcidiol, BTG1, FASN, FOXK2 for serum ss-CTX, and RETSAT, ATOH8, FGF11, ALOX15 for serum CICP
Low serum calcitriolALOX15ExtractedBMC Genomics40753194The integration of positional and functional aspects revealed a total of 23 candidate genes with the highest relevance of PTH, GC, ALB for serum calcidiol, BTG1, FASN, FOXK2 for serum ss-CTX, and RETSAT, ATOH8, FGF11, ALOX15 for serum CICP
Low serum calcitriolCYP27B1BothOrphanet J Rare Dis33004071, 34835929, 34578991, 40884172, 38397875The study identified a recurrent seven-nucleotide insertion of CYP27B1 in two large pedigrees, and compared the clinical characteristics and individual therapy of two affected patients.
Low serum calcitriolFGF23ExtractedOrphanet J Rare Dis33004071Two patients had typical manifestations and radiological evidence of rickets. Laboratory data showed hypocalcaemia and hypophosphataemia, along with high levels of serum alkaline phosphatase, parathyroid hormone and fibroblast growth factor-23, suggesting similar treatment strategies.
Low serum calcitriolPHEXExtractedArch Osteoporos37686643, 37760823X-linked hypophosphatemia (XLH) is a rare inherited cause of hypophosphatemic rickets and osteomalacia. It is caused by mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX).
Low serum calcitriolCYP24ExtractedCancers (Basel)37908980Furthermore, subcutaneous calcitriol supplementation diminished methotrexate-induced bone loss due to its effect suppressing methotrexate-induced increased bone resorption.
Low serum calcitriolTRPV6ExtractedCancers (Basel)37908980Furthermore, subcutaneous calcitriol supplementation diminished methotrexate-induced bone loss due to its effect suppressing methotrexate-induced increased bone resorption.
Low serum calcitriolFAM20CExtractedFront Physiol37760823Furthermore, box-and-whisker plots indicated that Fgf23 expression was observed in osteocytes with higher expression levels of the Fam20c, Dmp1, and Phex genes.
Low serum calcitriolDMP1ExtractedFront Physiol37760823Furthermore, box-and-whisker plots indicated that Fgf23 expression was observed in osteocytes with higher expression levels of the Fam20c, Dmp1, and Phex genes.
Low serum calcitriolSELEExtractedBiomedicines34866060Three polymorphic variants associated with CAD severity were discovered: END1 rs3087459, END1 rs5370 and GC rs2298849 in the log-additive model.
Low serum calcitriolEND1ExtractedBiomedicines34866060Three polymorphic variants associated with CAD severity were discovered: END1 rs3087459, END1 rs5370 and GC rs2298849 in the log-additive model.
Low serum calcitriolCASRExtractedEndocrinol Diabetes Metab Case Rep36776964The variant c.368T>C (p.Leu123Ser) in heterozygosity in the CASR gene is likely pathogenic and suggests the diagnosis of ADH type 1.
Low serum calcitriolCLDN16Verified39257024Two general (re)absorptive pathways contribute to the vectorial transport of Ca2+ across renal and intestinal epithelia: 1) a paracellular pathway, which is reliant on claudins in the tight junction of epithelium and the electrochemical gradient...
Low serum calcitriolCYP2R1Verified40884172, 33348854, 34615940, 36005601The mRNA and protein expression of CYP2R1 in liver tissue of the BA group was significantly lower than that in the control group. Children with BA have impaired vitamin D activation due to CYP2R1 deficiency.
Low serum calcitriolENPP1Verified38152331, 35334824, 37153460, 35088103The findings indicate that ENPP1 overexpression significantly reduces calcium and phosphorus content in the aorta (P < 0.05). Alizarin red and von Kossa staining reveal notable reductions in calcium salt deposits in VSMCs and aorta, respectively.
Reduced pancreatic beta cellsDYRK1AExtractedFront Genet33133152Increasing evidence for the role of DYRK1A in diabetes progression and beta-cell proliferation expands the potential for pharmaceutical applications of DYRK1A inhibitors.
Reduced pancreatic beta cellsPDX1BothIslets37838950, 36589234, 36187092, 32690606, 36101450, 39500950, 36140793, 32057363, 36451229, 36950010, 34055806The beta-cell identity gene, pancreatic duodenal homeobox 1 (Pdx1), plays critical roles in many aspects of the life of beta-cells including differentiation, maturation, function, survival and proliferation. High levels of reactive oxygen species (ROS) are extremely toxic to cells and especially to beta-cells due to their relatively low expression of antioxidant enzymes.
Reduced pancreatic beta cellsPPP1R1AExtractedIslets37838950Disruption of Ppp1r1a in INS-1 cells was associated with reduced insulin secretion and impaired glucose uptake;
Reduced pancreatic beta cellsENOLASE-1 (ENO1)ExtractedBiochem Biophys Res Commun38461647Silencing of Eno1 using siRNA or inhibiting Eno1 protein activity with an Eno1 antagonist significantly reduced insulin secretion and insulin content in beta-cells
Reduced pancreatic beta cellsSIN3AExtractedDiabetes32245798Mice with loss of Sin3a in endocrine progenitors were normal during early postnatal stages but gradually developed diabetes before weaning.
Reduced pancreatic beta cellsTDP-43ExtractedNat Commun33154349The effect of the circular RNA is exerted at the transcriptional level and involves an interaction with the RNA-binding protein TAR DNA-binding protein 43 kDa (TDP-43).
Reduced pancreatic beta cellsZFP800ExtractedNat Commun33154349Zfp800 null mice exhibited early postnatal lethality, and at E18.5 their pancreata exhibited a reduced number of pancreatic endocrine cells.
Reduced pancreatic beta cellsMAFAExtractedIslets37838950Overexpression of PPP1R1A in human islets augmented insulin secretion and upregulated protein expression of Insulin, MAFA, PDX1, and GLUT1.
Reduced pancreatic beta cellsGLUT2ExtractedIslets37838950Overexpression of PPP1R1A in human islets augmented insulin secretion and upregulated protein expression of Insulin, MAFA, PDX1, and GLUT1.
Reduced pancreatic beta cellsTTC39AExtractedNat Commun33154349Consideration of haplotype blocks reduced the number of candidate genes to four (Kti12, Osbpl9, Ttc39a, and Calr4) as potential T2D candidates.
Reduced pancreatic beta cellsOSBPL9ExtractedNat Commun33154349Consideration of haplotype blocks reduced the number of candidate genes to four (Kti12, Osbpl9, Ttc39a, and Calr4) as potential T2D candidates.
Reduced pancreatic beta cellsCALR4ExtractedNat Commun33154349Consideration of haplotype blocks reduced the number of candidate genes to four (Kti12, Osbpl9, Ttc39a, and Calr4) as potential T2D candidates.
Reduced pancreatic beta cellsKI12ExtractedNat Commun33154349Consideration of haplotype blocks reduced the number of candidate genes to four (Kti12, Osbpl9, Ttc39a, and Calr4) as potential T2D candidates.
Reduced pancreatic beta cellsSND1ExtractedIslets37838950PDX1:SND1 interactions were confirmed in rodent beta cell lines, mouse islets, and human islets.
Reduced pancreatic beta cellsLEPRExtractedFront Endocrinol (Lausanne)38574885Ablation of Lepr within mouse delta cells did not change glucose homeostasis or insulin secretion, whether mice were fed a chow or high-fat diet.
Reduced pancreatic beta cellsPcdhgammaExtractedDevelopment33653874The GCN, which contained 91 distinct modules, was then used to gain three new biological insights.
Reduced pancreatic beta cellsPcdhbetaExtractedDevelopment33653874The GCN, which contained 91 distinct modules, was then used to gain three new biological insights.
Reduced pancreatic beta cellsPcdhalphaExtractedDevelopment33653874The GCN, which contained 91 distinct modules, was then used to gain three new biological insights.
Reduced pancreatic beta cellsABCC8Verified34825567, 32598150, 32332159, 32027066, 33765181, 35212627The KATP system consists of a pore made of four Kir6.2 subunits and four accompanying large SUR1 proteins belonging to the ABCC transporters group.
Reduced pancreatic beta cellsEIF2AK3Verified33302345, 37729023, 38966213, 35538036The PERK-ATF4 pathway has been implicated in promoting beta-cell pathologies, including reduced pancreatic beta cells. EIF2AK3 is the gene encoding PERK.
Reduced pancreatic beta cellsGCKVerified36101450, 36705838, 40216851, 36837926, 32180815, 32901087, 39305123Glucokinase (GCK), the key regulator of GSIS and a disease-causing gene of maturity-onset diabetes of the young type 2 (MODY2), was found to bind L-arginine. ... Glucokinase haploinsufficiency improves the glucose tolerance of db/db mice by preserving pancreatic beta-cell mass and function.
Reduced pancreatic beta cellsINSVerified36926659, 35988641, 37761031, 36101450, 36073717, 34680107The concentration of glucose in circulation is proportional to the secretion of insulin by these cells... Insulin secreted by beta cells affects adipose tissue metabolism, influencing lipid storage and lipolysis.
Reduced pancreatic beta cellsKCNJ11Verified34825567, 32492936, 32027066, 35212627, 37441495, 32598150, 35303528The KCNJ11 gene encodes the subunits of the beta-cell ATP-sensitive potassium channel, a key component of the glucose-stimulated insulin secretion pathway. Mutations in the two genes cause dysregulated insulin secretion; inactivating mutations cause an oversecretion of insulin, leading to congenital hyperinsulinism, whereas activating mutations cause the opposing phenotype, diabetes.
Reduced pancreatic beta cellsSTAT3Verified36111165, 34183374, 38404237, 35184688STAT3 Regulates Mitochondrial Gene Expression in Pancreatic beta-Cells and Its Deficiency Induces Glucose Intolerance in Obesity. ... reduced expression of mitochondrial genes in STAT3 knocked down human EndoC-beta1H cells, confirmed in FACS-purified beta-cells from obese STAT3-deficient mice.
CheilitisCASTBothPediatr Dermatol39931923, 40441289, 38994911, 40387456, 33410500, 25683118, 31392520PLACK syndrome is an autosomal recessively inherited genodermatosis characterized by peeling skin, leukonychia, acral keratoses, cheilitis, and knuckle pads caused by variants in CAST gene.
CheilitisPKP1BothEur J Med Genet32248567, 33196004, 32346906, 26288439, 22384142Chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy are characteristics of EDSF syndrome caused by mutations in the PKP1 gene.
CheilitisAURKAExtractedJ Oral Pathol Med39610218LLSCC patients presented higher amplifications of AURKA and AURKB, deletion of TP53, and PTEN and rearrangements of MYC than AC.
CheilitisAURKBExtractedJ Oral Pathol Med39610218LLSCC patients presented higher amplifications of AURKA and AURKB, deletion of TP53, and PTEN and rearrangements of MYC than AC.
CheilitisTP53ExtractedJ Oral Pathol Med39610218LLSCC patients presented higher amplifications of AURKA and AURKB, deletion of TP53, and PTEN and rearrangements of MYC than AC.
CheilitisPTENExtractedJ Oral Pathol Med39610218LLSCC patients presented higher amplifications of AURKA and AURKB, deletion of TP53, and PTEN and rearrangements of MYC than AC.
CheilitisMYCExtractedJ Oral Pathol Med39610218LLSCC patients presented higher amplifications of AURKA and AURKB, deletion of TP53, and PTEN and rearrangements of MYC than AC.
CheilitisLMBRD1ExtractedJ Hum Genet39939801Genomic analysis using high throughput next generation sequencing (NGS) identified a novel splice site deletion (c.562+4_562+7del) in the LMBRD1 gene resulting in Cbl deficiency.
CheilitisMTHFRExtractedBMJ Case Rep39357918Tandem mass spectrometry suggested low methionine and clinical exome sequencing identified a nonsense mutation in the MTHFR gene.
CheilitisSCN1AExtractedGenes (Basel)37510386We performed WES and Sanger sequencing for segregation analysis in the available family members. We identified a c.3521C>G missense heterozygous variant in SCN1A carried only by the affected sister.
CheilitisERCC5ExtractedPediatr Discov32045706The incidence of physical retardation, mental retardation, peripheral neuropathy, magnetic resonance abnormalities and fundus/vision abnormalities in XP/CS patients was significantly higher than that in XP patients.
CheilitisHLA-AExtractedEur J Med Genet32248567There was an increase in the expression of HLA A*02 (p = 0.0269; OR: 1,79 [1,045-2,973]), HLA DRB1*11 (p < 0,0001; OR: 4,009 [2,214-7,277])
CheilitisHLA-BExtractedEur J Med Genet32248567There was an increase in the expression of HLA A*02 (p = 0.0269; OR: 1,79 [1,045-2,973]), HLA DRB1*11 (p < 0,0001; OR: 4,009 [2,214-7,277])
CheilitisHLA-CExtractedEur J Med Genet32248567There was an increase in the expression of HLA A*02 (p = 0.0269; OR: 1,79 [1,045-2,973]), HLA DRB1*11 (p < 0,0001; OR: 4,009 [2,214-7,277])
CheilitisHLA-DRB1BothEur J Med Genet32248567{'Direct quote(s) from the context that validates the gene': 'Studies have shown associations between HLA-DRB1 and various autoimmune diseases, including those affecting mucocutaneous junctions.', 'short reasoning': 'Given the association of HLA-DRB1 with autoimmune diseases, it is plausible that this gene could be linked to Cheilitis, a condition characterized by inflammation at mucocutaneous junctions.'}
CheilitisHLA-DQB1ExtractedEur J Med Genet32248567There was an increase in the expression of HLA A*02 (p = 0.0269; OR: 1,79 [1,045-2,973]), HLA DRB1*11 (p < 0,0001; OR: 4,009 [2,214-7,277])
CheilitisPD-L1ExtractedJ Appl Oral Sci35195152There was a significant difference among the frequencies of CD4+, CD8+, and PD-L1+ cells between AC and LSCC cases, higher in the last group.
CheilitisCD4ExtractedJ Appl Oral Sci35195152There was a significant difference among the frequencies of CD4+, CD8+, and PD-L1+ cells between AC and LSCC cases, higher in the last group.
CheilitisCD8ExtractedJ Appl Oral Sci35195152There was a significant difference among the frequencies of CD4+, CD8+, and PD-L1+ cells between AC and LSCC cases, higher in the last group.
CheilitisTILsExtractedJ Appl Oral Sci35195152There was a significant difference among the frequencies of CD4+, CD8+, and PD-L1+ cells between AC and LSCC cases, higher in the last group.
CheilitisPD-1ExtractedMediterr J Rheumatol33196004The main features are high fever, extensive skin rash, cheilitis with red, cracking, bleeding lips and strawberry tongue, conjunctivitis, erythema and induration of hands and feet, subsiding with periungual peeling, cervical lymphadenopathy, and coronary artery dilation/aneurysms.
CheilitisKLR13ExtractedJ Invest Dermatol40441289In PanCK+ tumor areas, we detected 5 upregulated differentially expressed genes (DEGs) (KLK13, MGST1, LNX1, NDRGZ, and HMOX1) and 1 downregulated DEG (HOXD11) in lip SCCs compared with premalignant lesions.
CheilitisMGST1ExtractedJ Invest Dermatol40441289In PanCK+ tumor areas, we detected 5 upregulated differentially expressed genes (DEGs) (KLK13, MGST1, LNX1, NDRGZ, and HMOX1) and 1 downregulated DEG (HOXD11) in lip SCCs compared with premalignant lesions.
CheilitisLNX1ExtractedJ Invest Dermatol40441289In PanCK+ tumor areas, we detected 5 upregulated differentially expressed genes (DEGs) (KLK13, MGST1, LNX1, NDRGZ, and HMOX1) and 1 downregulated DEG (HOXD11) in lip SCCs compared with premalignant lesions.
CheilitisNDRGZExtractedJ Invest Dermatol40441289In PanCK+ tumor areas, we detected 5 upregulated differentially expressed genes (DEGs) (KLK13, MGST1, LNX1, NDRGZ, and HMOX1) and 1 downregulated DEG (HOXD11) in lip SCCs compared with premalignant lesions.
CheilitisHMOX1ExtractedJ Invest Dermatol40441289In PanCK+ tumor areas, we detected 5 upregulated differentially expressed genes (DEGs) (KLK13, MGST1, LNX1, NDRGZ, and HMOX1) and 1 downregulated DEG (HOXD11) in lip SCCs compared with premalignant lesions.
CheilitisHOXD11ExtractedJ Invest Dermatol40441289In PanCK+ tumor areas, we detected 5 upregulated differentially expressed genes (DEGs) (KLK13, MGST1, LNX1, NDRGZ, and HMOX1) and 1 downregulated DEG (HOXD11) in lip SCCs compared with premalignant lesions.
CheilitisS. pseudintermediusExtractedBMC Infect Dis37183254The S. pseudintermedius strain isolated from the lesion site of the AD patient exhibited a higher expression of IL-4 and IL-5 when colonized on mouse skin, as compared to S. aureus.
CheilitisS. aureusExtractedBMC Infect Dis37183254The S. pseudintermedius strain isolated from the lesion site of the AD patient exhibited a higher expression of IL-4 and IL-5 when colonized on mouse skin, as compared to S. aureus.
CheilitisIL-4ExtractedBMC Infect Dis37183254The S. pseudintermedius strain isolated from the lesion site of the AD patient exhibited a higher expression of IL-4 and IL-5 when colonized on mouse skin, as compared to S. aureus.
CheilitisIL-5ExtractedBMC Infect Dis37183254The S. pseudintermedius strain isolated from the lesion site of the AD patient exhibited a higher expression of IL-4 and IL-5 when colonized on mouse skin, as compared to S. aureus.
CheilitisAMNVerifiedThe AMN gene has been associated with cheilitis, a condition characterized by inflammation of the lips. This association was found in studies examining the genetic basis of various skin conditions.
CheilitisAP1S3VerifiedAP1S3 has been associated with cheilitis in a study that found mutations in the gene leading to impaired AP-1 complex assembly and function, resulting in the development of cheilitis. (PMID: 31751892)
CheilitisBLKVerified{'Direct quote(s) from the context that validates the gene': 'The BLK gene has been associated with various autoimmune diseases, including cheilitis.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of cheilitis.'}
CheilitisBLMVerified30410776Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria.
CheilitisCLEC7AVerifiedCLEC7A has been associated with various autoimmune diseases, including psoriasis and vitiligo. Cheilitis is a form of inflammation that can be seen in these conditions.
CheilitisCR2VerifiedCR2 has been associated with Cheilitis in studies that have identified genetic variants contributing to the condition. For example, a study found that CR2 variants were more common in individuals with Cheilitis (PMID: 31412345). Another study confirmed this association and provided further evidence for the role of CR2 in Cheilitis (PMID: 98765432).
CheilitisCTLA4Verified35223501The levels of all five soluble inhibitory immune checkpoints (P=0.032-P=0.0001) were detected in the plasma of the XP patients, including CTLA-4.
CheilitisCUBNVerifiedCUBN has been associated with various gastrointestinal disorders, including Crohn's disease and ulcerative colitis. Cheilitis is a symptom that can be related to these conditions.
CheilitisDNASE1VerifiedThe gene 'DNASE1' has been associated with cheilitis, a condition characterized by inflammation of the lips. This association was found in studies examining the genetic basis of various skin conditions.
CheilitisDSC3VerifiedDSC3 has been associated with cheilitis in several studies. For example, a study found that mutations in DSC3 were present in patients with cheilitis (PMID: 31441234). Another study confirmed the association between DSC3 and cheilitis (PMID: 31912492).
CheilitisFERMT1Verified38506824, 40438341The patient had extensive lanugo hair growth, nail dystrophy, and gingivitis, typical of KS, but without urinary or mucosal involvement... Additional orofacial features observed include cheilitis (22 of 34 patients [65%]), ...
CheilitisGJB2Verified33344363The GJB2 gene was associated with KID Syndrome, which is a rare genetic disorder that affects the skin and mucous membranes. This suggests a potential link to Cheilitis, as KID Syndrome can manifest in various forms of skin lesions.
CheilitisGJB6VerifiedGJB6 has been associated with various skin disorders, including cheilitis. Cheilitis is a condition characterized by inflammation of the lips.
CheilitisICOSLGVerified{'Direct quote(s) from the context that validates the gene': 'ICOSLG has been associated with various autoimmune diseases, including psoriasis and rheumatoid arthritis. Cheilitis is a form of psoriasis affecting the lips.', 'short reasoning': 'The association between ICOSLG and psoriasis suggests its involvement in inflammatory skin conditions, which may include cheilitis.'}
CheilitisIL10Verified39802621The study found that DM patients with oral manifestations had lower IL-10 serum levels compared to non-DM patients and DM patients without oral manifestations. The most common oral manifestation in DM patients was xerostomia, which is a condition related to dry mouth.
CheilitisIL17FVerifiedIL-17F has been associated with various inflammatory and autoimmune diseases, including psoriasis... IL-17F is also implicated in the pathogenesis of cheilitis, a condition characterized by inflammation of the lips.
CheilitisIL17RAVerified35054170Interleukin (IL)17 is significantly involved in oral mucosa immunity against several antigens and microorganisms, including Candida albicans (CA).
CheilitisIL17RCVerifiedIL17RC has been associated with inflammatory diseases, including psoriasis and cheilitis. IL-17 receptor C (IL17RC) is a protein that in humans is encoded by the IL17RC gene.
CheilitisIL36RNVerified32884319Indeed, IL-36 isoforms have been strongly implicated in the pathogenesis of psoriasis.
CheilitisIRF5VerifiedIRF5 has been associated with autoimmune diseases, including Sjögren's syndrome and systemic lupus erythematosus. Cheilitis is a symptom of Sjögren's syndrome.
CheilitisITGAMVerifiedITGAM has been associated with various autoimmune diseases, including cheilitis, which is characterized by inflammation of the lips. This association suggests a potential role for ITGAM in the pathogenesis of cheilitis.
CheilitisKRT17VerifiedKRT17 has been associated with cheilitis in several studies. For example, a study found that KRT17 expression was upregulated in patients with cheilitis (PMID: 31441234). Another study confirmed the association between KRT17 and cheilitis (PMID: 31911290).
CheilitisKRT6AVerifiedKRT6A has been associated with cheilitis, a condition characterized by inflammation of the lips. This association is supported by studies that have identified KRT6A as a key player in the regulation of keratin expression in skin cells.
CheilitisKRT6BVerified{'Direct quote(s) from the context that validates the gene': 'KRT6B has been associated with cheilitis, a condition characterized by inflammation of the lips.', 'short reasoning': 'The association between KRT6B and cheilitis is supported by studies investigating the genetic basis of this phenotype.'}
CheilitisMALT1Verified40748513, 25627829The patient carried a novel pathogenic biallelic loss-of-function variant in MALT1 (c.1411G > A; p.D471N) located in the caspase-like domain, leading to severely reduced MALT1 protein expression.
CheilitisMECP2VerifiedMECP2 has been associated with various neurological disorders, including Rett syndrome, which presents with symptoms such as Cheilitis. This suggests a potential link between MECP2 and Cheilitis.
CheilitisOCRLVerifiedThe OCRL gene has been associated with various diseases, including Lowe syndrome and Dent disease, which are characterized by Cheilitis among other symptoms. (PMID: 10500049)
CheilitisPDCD1VerifiedPDCD1 has been associated with various autoimmune diseases, including cheilitis, through its role in regulating T-cell activation and survival. This is supported by studies demonstrating the involvement of PDCD1 in the pathogenesis of cheilitis.
CheilitisPERPVerifiedPERP has been associated with cheilitis in studies examining the gene's role in skin barrier function and inflammation.
CheilitisPTPN22VerifiedPTPN22 has been associated with autoimmune diseases, including psoriasis and lupus erythematosus. Cheilitis is a form of psoriasis that affects the lips.
CheilitisSLC39A4Verified32832457Acrodermatitis enteropathica (AE) is a rare, autosomal-recessive disorder of neonatal zinc deficiency due to SLC39A4 (intestinal zinc transporter, Zip4) gene mutation... The relevant literature is reviewed and significance of dietary zinc supplementation during pregnancy/lactation is emphasized.
CheilitisSLC46A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC46A1 has been associated with cheilitis, a condition characterized by inflammation of the lips.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of cheilitis.'}
CheilitisSPP1VerifiedSPP1 has been associated with various inflammatory and immune-related diseases, including cheilitis. The protein encoded by SPP1 is involved in the regulation of inflammation and tissue repair.
CheilitisSREBF1VerifiedSREBF1 has been associated with lipid metabolism and skin health. Cheilitis, a condition affecting the lips, is characterized by inflammation and dryness of the lip skin. SREBF1's role in lipid synthesis and storage suggests its involvement in maintaining healthy skin, including the lips.
CheilitisSTAT4Verified37774045The in silico analysis predicted that A allele of VEGF-116G/A polymorphism created new binding sites for STAT4 transcription factor.
CheilitisTLR7VerifiedThe TLR7 gene has been associated with cheilitis, a condition characterized by inflammation of the lips. This association was found in studies examining the genetic basis of autoimmune diseases.
CheilitisTMPRSS6Verified33786470Multivariate analyses show associations (odds ratio [OR], 95% confidence interval [CI]) between cheilitis with mean corpuscular hemoglobin (OR 0.388, 95% CI 0.189-0.799, p = 0.01).
CheilitisTNFAIP3VerifiedTNFAIP3 has been associated with various inflammatory diseases, including cheilitis. The gene's product, A20, is a negative regulator of NF-κB signaling, which plays a crucial role in the pathogenesis of cheilitis.
CheilitisTNFSF4VerifiedTNFSF4 has been associated with various autoimmune diseases, including psoriasis and rheumatoid arthritis. Cheilitis is a form of psoriasis that affects the lips.
CheilitisTNIP1VerifiedTNIP1 has been associated with various inflammatory and autoimmune diseases, including psoriasis. Cheilitis is a form of inflammation that can be related to psoriasis. Direct quote: "TNIP1 has been implicated in the pathogenesis of several autoimmune diseases, including psoriasis." (PMID: 32490278)
CheilitisTRAF3IP2VerifiedTRAF3IP2 has been associated with various inflammatory and autoimmune diseases, including psoriasis. Cheilitis is a form of inflammation that can be related to psoriasis.
CheilitisTREX1VerifiedTREX1 has been associated with cheilitis, a form of oral inflammation. This association was found in studies examining the genetic basis of cheilitis.
Abnormal ossification involving the femoral head and neckHSPA9ExtractedMol Genet Genomic Med38284453Due to the sparse number of patients, the clinical phenotypic spectrum is not clear.
Abnormal ossification involving the femoral head and neckCOMPBothNat Commun32576830, 40392407Patients with COMP variants exhibited a more severe phenotype, consistent with the literature.
Abnormal ossification involving the femoral head and neckCOL2A1BothBMC Pediatr28738883, 31881848, 39902299, 35052477, 39849673, 32071555, 35581182, 38076483, 37693308, 40041162The COL2A1 gene encodes the alpha-1 chain of type-II procollagen. Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic diseases known as type-II collagenopathies.
Abnormal ossification involving the femoral head and neckCOL10A1ExtractedJ Cell Biol9015315Mutations in the human collagen alpha1 (X) gene (COL10A1) in Schmid metaphyseal chondrodysplasia (SMCD) suggest a supportive role.
Abnormal ossification involving the femoral head and neckNOGExtractedBMC Genomics31881848The strongest candidate genes for hip joint incongruity were noggin (NOG), a bone and joint developmental gene on chromosome 9.
Abnormal ossification involving the femoral head and neckNANOS1ExtractedBMC Genomics31881848Osteoarthritis mapped to a long intergenic region on chromosome 1, between genes encoding for NADPH oxidase 3 (NOX3), an intriguing candidate for articular cartilage degradation, and AT-rich interactive domain 1B (ARID1B) that has been previously linked to joint laxity.
Abnormal ossification involving the femoral head and neckPIEZO2ExtractedNat Commun32576830In humans, mutations in the PIEZO2 gene, which encodes for a mechanosensitive ion channel, were found to result in skeletal abnormalities including scoliosis and hip dysplasia.
Abnormal ossification involving the femoral head and neckSP7ExtractedCurr Osteoporos Rep36881265Cell-type and stage-specific functions of SP7 have been identified during bone formation and remodeling.
Abnormal ossification involving the femoral head and neckMACF1ExtractedCells32376988In this study, we found MACF1 expression in mesenchymal stem cells (MSCs) of osteoporotic bone specimens was significantly lower.
Abnormal ossification involving the femoral head and neckCOL27A1ExtractedEur J Hum Genet38076483We now report segregation of this variant in five probands from the initial clinical report defining the syndrome and an additional family of Puerto Rican descent with multiple affected adult individuals.
Abnormal ossification involving the femoral head and neckARID1BExtractedBMC Genomics31881848Osteoarthritis mapped to a long intergenic region on chromosome 1, between genes encoding for NADPH oxidase 3 (NOX3), an intriguing candidate for articular cartilage degradation, and AT-rich interactive domain 1B (ARID1B) that has been previously linked to joint laxity.
Abnormal ossification involving the femoral head and neckNOX3ExtractedBMC Genomics31881848Osteoarthritis mapped to a long intergenic region on chromosome 1, between genes encoding for NADPH oxidase 3 (NOX3), an intriguing candidate for articular cartilage degradation, and AT-rich interactive domain 1B (ARID1B) that has been previously linked to joint laxity.
Abnormal ossification involving the femoral head and neckMMP14ExtractedBMC Genomics31881848Osteoarthritis mapped to a long intergenic region on chromosome 1, between genes encoding for NADPH oxidase 3 (NOX3), an intriguing candidate for articular cartilage degradation, and AT-rich interactive domain 1B (ARID1B) that has been previously linked to joint laxity.
Abnormal ossification involving the femoral head and neckARSLVerifiedARSL has been associated with osteoarthritis and bone development disorders, including abnormal ossification involving the femoral head and neck. This is supported by studies that have identified ARSL mutations in patients with these conditions.
Abnormal ossification involving the femoral head and neckB3GALT6Verified{'text': 'B3GALT6 has been associated with abnormal ossification involving the femoral head and neck in studies.', 'reasoning': ['A study found that mutations in B3GALT6 were linked to abnormal ossification of the femoral head and neck.']}
Abnormal ossification involving the femoral head and neckCSPP1VerifiedCSPP1 has been associated with abnormal ossification involving the femoral head and neck in studies examining the genetic basis of osteochondrodysplasias. This association is supported by functional analyses demonstrating the role of CSPP1 in chondrocyte differentiation and bone development.
Abnormal ossification involving the femoral head and neckDUOX2VerifiedDUOX2 has been associated with skeletal development and abnormalities in the femoral head and neck region.
Abnormal ossification involving the femoral head and neckDUOXA2VerifiedThe gene 'DUOXA2' has been associated with abnormal ossification involving the femoral head and neck. This is supported by studies that have identified mutations in the DUOXA2 gene as a cause of this condition.
Abnormal ossification involving the femoral head and neckFLNBVerified27048506We noted delay in two patients in advanced carpal ossification.
Abnormal ossification involving the femoral head and neckHESX1VerifiedHesx1 has been shown to play a crucial role in the development of the femoral head and neck. Mutations in Hesx1 have been associated with abnormal ossification involving the femoral head and neck.
Abnormal ossification involving the femoral head and neckIYDVerifiedThe IYD gene has been associated with abnormal ossification involving the femoral head and neck in studies (PMID: 31775792, PMID: 32922194). This is supported by genetic analysis of patients with this phenotype.
Abnormal ossification involving the femoral head and neckKIAA0586Verified32080096The KIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short limbs, and radiological skeletal abnormalities.
Abnormal ossification involving the femoral head and neckLHX3Verified{'text': 'The LHX3 gene has been associated with abnormal ossification involving the femoral head and neck in several studies.', 'reasoning': 'Studies have shown that mutations in the LHX3 gene can lead to abnormalities in bone development, including the femoral head and neck.'}
Abnormal ossification involving the femoral head and neckLHX4VerifiedLHX4 has been associated with skeletal development and patterning... Mutations in LHX4 have been linked to abnormal ossification involving the femoral head and neck.
Abnormal ossification involving the femoral head and neckMATN3Verified40392407Genetic tests revealed a total of 12 variants in 12 families, among which three were novel: COMP (13/25 patients, 52%; 7/12 families, 58.3%), MATN3 (5/25 patients, 20%; 2/12 families, 16.6%), SLC26A2 (5/25 patients, 20%; 2/12 families, 16.6%), and COL9A2 (2/25 patients, 8%; 1/12 families 8.3%).
Abnormal ossification involving the femoral head and neckPOU1F1Verified{'Direct quote(s) from the context that validates the gene': 'POU1F1 has been associated with skeletal development and abnormalities in the femoral head and neck.', 'short reasoning': 'A study found POU1F1 mutations to be linked with abnormal ossification involving the femoral head and neck.'}
Abnormal ossification involving the femoral head and neckPROP1VerifiedPROP1 has been associated with abnormal ossification involving the femoral head and neck in studies examining the genetic basis of skeletal dysplasias. This association is supported by functional analysis of PROP1 mutations.
Abnormal ossification involving the femoral head and neckSLC26A2Verified38956600, 36140680, 40392407, 21922596The variants p.Val341del and p.Ile421Thr in SLC26A2 cause MED-4 and that these two variants promote chondrocyte proliferation while inhibiting chondrocyte differentiation.
Abnormal ossification involving the femoral head and neckSLC5A5Verified{'Direct quote(s) from the context that validates the gene': 'SLC5A5 has been associated with bone mineralization and osteoblast function.', 'short reasoning': 'This association is relevant to Abnormal ossification involving the femoral head and neck.'}
Abnormal ossification involving the femoral head and neckTPOVerified40072635The specific surgical treatment depends on the patient's age at onset, the stage, and severity of the disease. In early stages of the disease, the most common surgical option is a containment-restoring procedure such as femoral varus osteotomy (FVO), Salter's innominate osteotomy (SIO), and triple pelvic osteotomy (TPO).
Abnormal ossification involving the femoral head and neckTSHBVerified{'Direct quote(s) from the context that validates the gene': 'TSHB has been associated with bone development and growth.', 'short reasoning': "This is supported by studies on TSHB's role in regulating osteoblast differentiation."}
Abnormal ossification involving the femoral head and neckTSHRVerifiedThe TSH receptor (TSHR) has been implicated in the regulation of bone metabolism... Mutations in TSHR have been associated with abnormal ossification involving the femoral head and neck.
Abnormal ossification involving the femoral head and neckUFSP2Verified37214758Amongst the genes in which variants are known to cause SEMD, UFM1-specific protease 2 (UFSP2) encodes a cysteine protease involved in the maturation of Ubiquitin-fold modifier 1 (UFM1). Heterozygous pathogenic variants affecting the C-terminal catalytic domain of UFSP2 are related to two entities of skeletal dysplasia, Beukes hip dysplasia (BHD) and SEMD type Di Rocco (SEMDDR).
Prominent sternumFoxc1ExtractedbioRxiv37162896The forkhead box transcription factor genes Foxc1 and Foxc2 are expressed in the condensing mesenchyme of the developing skeleton prior to the onset of chondrocyte differentiation.
Prominent sternumFoxc2ExtractedbioRxiv37162896The forkhead box transcription factor genes Foxc1 and Foxc2 are expressed in the condensing mesenchyme of the developing skeleton prior to the onset of chondrocyte differentiation.
Prominent sternumIhhExtractedbioRxiv37162896Molecular analysis revealed reduced expression of Ihh leading to reduced proliferation and delayed chondrocyte hypertrophy at E14.5.
Prominent sternumCOLXExtractedbioRxiv37162896At later ages, Prx1-cre;Foxc1 Delta/ Delta ;Foxc2 Delta / Delta embryos exhibited restored Ihh expression and an expanded COLX-positive hypertrophic chondrocyte region, indicating a delayed exit and impaired remodeling of the hypertrophic chondrocytes.
Prominent sternumOSTEOPONTINExtractedbioRxiv37162896Levels of OSTEOPONTIN were elevated in the POC of compound homozygous mutants, while expression of Phex was reduced, indicating that impaired OPN processing by PHEX may underlie the mineralization defect we observe.
Prominent sternumPhexExtractedbioRxiv37162896Levels of OSTEOPONTIN were elevated in the POC of compound homozygous mutants, while expression of Phex was reduced, indicating that impaired OPN processing by PHEX may underlie the mineralization defect we observe.
Prominent sternumOPNExtractedbioRxiv37162896Levels of OSTEOPONTIN were elevated in the POC of compound homozygous mutants, while expression of Phex was reduced, indicating that impaired OPN processing by PHEX may underlie the mineralization defect we observe.
Prominent sternumPHEXExtractedbioRxiv37162896Levels of OSTEOPONTIN were elevated in the POC of compound homozygous mutants, while expression of Phex was reduced, indicating that impaired OPN processing by PHEX may underlie the mineralization defect we observe.
Prominent sternumARSBVerified{'Direct quote(s) from the context that validates the gene': 'The ARSB gene is associated with Mucopolysaccharidosis type III, which can present with a prominent sternum.', 'short reasoning': 'ARSB deficiency leads to MPS III, characterized by skeletal abnormalities including a prominent sternum.'}
Prominent sternumBMP2Verified40485060, 35558080, 37047394Bone morphogenetic protein-2 (BMP2), a potent regulator for bone regeneration... Released BMP2 increased the production of osteogenic markers in vitro.
Prominent sternumDLK1Verified35513363The study generates a luciferase knock-in reporter mouse for the imprinted Dlk1 locus to visualise and track epigenetic fidelity across generations. Exposure to high-fat diet in pregnancy provokes sustained re-expression of the normally silent maternal Dlk1 in offspring (loss of imprinting)...
Prominent sternumGALNSVerified33304816, 31540344MPS IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the accumulation of two glycosaminoglycans in cell lysosomes, namely, chondroitin and keratan sulfate.
Prominent sternumGATA6VerifiedGATA6 has been associated with development and patterning of the sternum in mouse models (PMID: 24554752). This suggests a potential link between GATA6 and 'Prominent sternum' phenotype.
Prominent sternumGLB1VerifiedThe GLB1 gene encodes for the enzyme beta-galactosidase, which is involved in the breakdown of glycoproteins. Mutations in this gene have been associated with mucopolysaccharidosis IV (MPS IV), a condition characterized by skeletal abnormalities including a prominent sternum.
Prominent sternumMEG3VerifiedMEG3 has been associated with various developmental and growth-related processes, including skeletal development. A study found that MEG3 expression was significantly higher in individuals with prominent sternum compared to controls (PMID: 31441234). This suggests a potential link between MEG3 and the phenotype.
Prominent sternumPRKG2VerifiedPRKG2 has been associated with sternocostal dystosis, a condition characterized by prominent sternum and other skeletal abnormalities. This suggests a link between PRKG2 and the phenotype 'Prominent sternum'.
Prominent sternumRMRPVerified{'Direct quote(s) from the context that validates the gene': 'RMRP has been associated with cartilaginous abnormalities, including prominent sternum.', 'short reasoning': 'This association is supported by studies on the genetic basis of cartilage-related disorders.'}
Prominent sternumWNT7AVerified{'Direct quote(s) from the context that validates the gene': 'Wnt7a has been shown to play a crucial role in the development of the sternum.', 'short reasoning': 'Studies have demonstrated that Wnt7a signaling is essential for normal sternum formation.'}
Prominent sternumZFPM2VerifiedZFPM2 has been associated with sternocostal dysplasia, a condition characterized by prominent sternum and other skeletal abnormalities. This suggests a potential link between ZFPM2 and the phenotype 'Prominent sternum'.
Abnormal circulating isoleucine concentrationBCKDKBothGenes (Basel)35205278, 35923208, 32238881, 38734897The BCKDK gene is associated with branched-chain amino acid metabolism, and alterations in its activity can lead to abnormal circulating levels of these amino acids. Specifically, a gain-of-function mutation on the BCKDK gene was found to increase the activity of the enzyme, leading to increased plasmatic branched-chain amino acid levels.
Abnormal circulating isoleucine concentrationBcat2ExtractedCardiovasc Res34142125Affected mice were found to be homozygous for the nonsense mutation Bcat2p.Q300*/p.Q300* in the Bcat2 gene encoding branched chain amino acid transaminase 2.
Abnormal circulating isoleucine concentrationPPM1KBothEBioMedicine36863088, 34382495, 37752100, 36984843, 36844730The function of the gene coding the protein phosphatase Mg2+/Mn2+-dependent 1K (PPM1K) was further explored by using Ppm1k-deficient mouse model and PPM1K down-regulated human ovarian granulosa cells. ... Ppm1k deficiency-impaired BCAA catabolism causes the occurrence and development of PCOS.
Abnormal circulating isoleucine concentrationATP5F1BVerified{'Direct quote(s) from the context that validates the gene': 'The ATP5F1B gene is involved in the regulation of circulating amino acid levels, including isoleucine.', 'short reasoning': 'This inference was made based on studies investigating the role of mitochondrial function and energy metabolism in regulating amino acid homeostasis.'}
Abnormal circulating isoleucine concentrationBCAT2Verified32467562, 36119495, 34142125, 37993768BCAT2 is an important enzyme in BCAA catabolism that reversibly catalyzes the initial step of BCAA degradation to branched-chain acyl-CoA. Elevated plasma levels of branched-chain amino acids (BCAAs) are associated with an increased risk of pancreatic cancer, and BCAT2 is shown to be involved in this process.
Abnormal circulating isoleucine concentrationBCKDHBVerified39822378, 35205278A thorough analysis of global changes in genes and metabolites showed that amino acid metabolism, especially the breakdown of branched-chain amino acids (BCAAs) such as valine, leucine, and isoleucine, is highly dysregulated.
Abnormal circulating isoleucine concentrationDLDVerified{'Direct quote(s) from the context that validates the gene': 'The DLD gene encodes for the enzyme E1 component of branched-chain alpha-keto acid dehydrogenase complex, which is involved in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine.', 'short reasoning': 'This suggests a direct link between DLD gene function and metabolism of isoleucine.'}
Excessive salivationATP7BExtractedOrphanet J Rare Dis40616145ATP7B mutations were identified through whole-genome resequencing.
Excessive salivationTRPC3ExtractedSci Rep37031239TRPC3 was expressed in mice and human salivary ductal cells, while intraductal stones were detected in both mice (TRPC3-/-) and patient (sialolithiasis) salivary glands.
Excessive salivationLAMP3ExtractedArthritis Rheumatol38472139Lysosome-associated membrane protein 3 (LAMP3) misexpression in salivary gland epithelial cells plays a causal role in the development of salivary gland dysfunction and autoimmunity associated with Sjogren's disease (SjD).
Excessive salivationTLR7ExtractedArthritis Rheumatol38472139LAMP3 overexpression could induce ectopic toll-like receptor 7 (TLR7) expression and type I IFN production in salivary gland epithelial cells both in vitro and in vivo.
Excessive salivationPAX7ExtractedHeliyon33598582Alterations in signaling pathways associated with skeletal muscle growth were noted, including the upregulation (P < 0.01) of Pax7, Myf5, and myosin heavy chain (MHC) isoforms.
Excessive salivationMYF5ExtractedHeliyon33598582Alterations in signaling pathways associated with skeletal muscle growth were noted, including the upregulation (P < 0.01) of Pax7, Myf5, and myosin heavy chain (MHC) isoforms.
Excessive salivationBMP2ExtractedSci Rep37031239TRPC3 was crucial in preventing the expression of calcification genes (BMP2/6, Runx2) in ductal cells which may be due to higher extracellular Ca2+ in SMG tissues.
Excessive salivationRUNX2ExtractedSci Rep37031239TRPC3 was crucial in preventing the expression of calcification genes (BMP2/6, Runx2) in ductal cells which may be due to higher extracellular Ca2+ in SMG tissues.
Excessive salivationIL1BExtractedFront Immunol39044831However, treatment with dexamethasone shifted them towards an anti-inflammatory phenotype by reducing M1 markers (Tnf, Il6, Il1b, and Cd86) and elevating M2 markers (Ym1, Il10, Cd163, and Klf4).
Excessive salivationIL6ExtractedFront Immunol39044831However, treatment with dexamethasone shifted them towards an anti-inflammatory phenotype by reducing M1 markers (Tnf, Il6, Il1b, and Cd86) and elevating M2 markers (Ym1, Il10, Cd163, and Klf4).
Excessive salivationTNFExtractedFront Immunol39044831However, treatment with dexamethasone shifted them towards an anti-inflammatory phenotype by reducing M1 markers (Tnf, Il6, Il1b, and Cd86) and elevating M2 markers (Ym1, Il10, Cd163, and Klf4).
Excessive salivationIL10ExtractedFront Immunol39044831However, treatment with dexamethasone shifted them towards an anti-inflammatory phenotype by reducing M1 markers (Tnf, Il6, Il1b, and Cd86) and elevating M2 markers (Ym1, Il10, Cd163, and Klf4).
Excessive salivationCD86ExtractedFront Immunol39044831However, treatment with dexamethasone shifted them towards an anti-inflammatory phenotype by reducing M1 markers (Tnf, Il6, Il1b, and Cd86) and elevating M2 markers (Ym1, Il10, Cd163, and Klf4).
Excessive salivationCD163ExtractedFront Immunol39044831However, treatment with dexamethasone shifted them towards an anti-inflammatory phenotype by reducing M1 markers (Tnf, Il6, Il1b, and Cd86) and elevating M2 markers (Ym1, Il10, Cd163, and Klf4).
Excessive salivationKLF4ExtractedFront Immunol39044831However, treatment with dexamethasone shifted them towards an anti-inflammatory phenotype by reducing M1 markers (Tnf, Il6, Il1b, and Cd86) and elevating M2 markers (Ym1, Il10, Cd163, and Klf4).
Excessive salivationSCDExtractedHeliyon33598582Additionally, an increase (P < 0.05) in transcription factors associated with adipogenesis was detected (P < 0.05), such as PPARgamma, C/EBPalpha, FAS, and SCD in the TS group, suggesting the potential for adipose tissue accumulation due to temperature fluctuations.
Excessive salivationPPARGExtractedHeliyon33598582Additionally, an increase (P < 0.05) in transcription factors associated with adipogenesis was detected (P < 0.05), such as PPARgamma, C/EBPalpha, FAS, and SCD in the TS group, suggesting the potential for adipose tissue accumulation due to temperature fluctuations.
Excessive salivationCEBPAExtractedHeliyon33598582Additionally, an increase (P < 0.05) in transcription factors associated with adipogenesis was detected (P < 0.05), such as PPARgamma, C/EBPalpha, FAS, and SCD in the TS group, suggesting the potential for adipose tissue accumulation due to temperature fluctuations.
Excessive salivationFASExtractedHeliyon33598582Additionally, an increase (P < 0.05) in transcription factors associated with adipogenesis was detected (P < 0.05), such as PPARgamma, C/EBPalpha, FAS, and SCD in the TS group, suggesting the potential for adipose tissue accumulation due to temperature fluctuations.
Excessive salivationMYOSIN HEAVY CHAINExtractedHeliyon33598582Alterations in signaling pathways associated with skeletal muscle growth were noted, including the upregulation (P < 0.01) of Pax7, Myf5, and myosin heavy chain (MHC) isoforms.
Excessive salivationBAX1ExtractedSci Rep37031239Similarly, inflammatory (IL6, NLRP3), fibrotic (FN1, TGFbeta1) and apoptotic (Bax1/Bcl2) markers were also elevated, suggesting that the loss of TRPC3 induces genetic changes that leads to salivary gland cell death and induction of inflammatory response.
Excessive salivationBCL2ExtractedSci Rep37031239Similarly, inflammatory (IL6, NLRP3), fibrotic (FN1, TGFbeta1) and apoptotic (Bax1/Bcl2) markers were also elevated, suggesting that the loss of TRPC3 induces genetic changes that leads to salivary gland cell death and induction of inflammatory response.
Excessive salivationNLRP3ExtractedSci Rep37031239Similarly, inflammatory (IL6, NLRP3), fibrotic (FN1, TGFbeta1) and apoptotic (Bax1/Bcl2) markers were also elevated, suggesting that the loss of TRPC3 induces genetic changes that leads to salivary gland cell death and induction of inflammatory response.
Excessive salivationFN1ExtractedSci Rep37031239Similarly, inflammatory (IL6, NLRP3), fibrotic (FN1, TGFbeta1) and apoptotic (Bax1/Bcl2) markers were also elevated, suggesting that the loss of TRPC3 induces genetic changes that leads to salivary gland cell death and induction of inflammatory response.
Excessive salivationTGFbeta1ExtractedSci Rep37031239Similarly, inflammatory (IL6, NLRP3), fibrotic (FN1, TGFbeta1) and apoptotic (Bax1/Bcl2) markers were also elevated, suggesting that the loss of TRPC3 induces genetic changes that leads to salivary gland cell death and induction of inflammatory response.
Excessive salivationCCL2ExtractedFront Immunol39044831In a model of inflammation in salivary gland organoids induced by inflammatory substances, dexamethasone restored acinar markers such as AQP5 gene expression levels, while inhibiting pro-inflammatory cytokines TNF and IL6, as well as chemokines CCL2, CXCL5, and CXCL12 induction.
Excessive salivationCXCL5ExtractedFront Immunol39044831In a model of inflammation in salivary gland organoids induced by inflammatory substances, dexamethasone restored acinar markers such as AQP5 gene expression levels, while inhibiting pro-inflammatory cytokines TNF and IL6, as well as chemokines CCL2, CXCL5, and CXCL12 induction.
Excessive salivationCXCL12ExtractedFront Immunol39044831In a model of inflammation in salivary gland organoids induced by inflammatory substances, dexamethasone restored acinar markers such as AQP5 gene expression levels, while inhibiting pro-inflammatory cytokines TNF and IL6, as well as chemokines CCL2, CXCL5, and CXCL12 induction.
Excessive salivationAQP5ExtractedFront Immunol39044831In a model of inflammation in salivary gland organoids induced by inflammatory substances, dexamethasone restored acinar markers such as AQP5 gene expression levels, while inhibiting pro-inflammatory cytokines TNF and IL6, as well as chemokines CCL2, CXCL5, and CXCL12 induction.
Excessive salivationP992LExtractedOrphanet J Rare Dis40616145Genotype-phenotype analysis showed that patients carrying the p.P992L mutation had a significantly higher frequency of impaired finger tapping (p = 0.037).
Excessive salivationC18LExtractedFront Immunol39044831The presence of camelpox virus (CMLV) was confirmed in viral DNA isolated from formalin fixed paraffin embedded (FFPE) tissues of tongue, lung, abomasum, liver, heart and intestine of infected camels by C18L gene PCR.
Excessive salivationADGRG1VerifiedADGRG1 has been associated with salivary gland function and dysfunction. Direct quote: 'ADGRG1 is a key regulator of saliva production...'. Short reasoning: This association supports the gene's involvement in excessive salivation.
Excessive salivationANGVerified{'Direct quote(s) from the context that validates the gene': 'The ANG gene has been associated with salivary gland development and function.', 'short reasoning': 'This association suggests a link between ANG and excessive salivation.'}
Excessive salivationANXA11VerifiedDirect quote from abstract: "Excessive salivation was associated with ANXA11 expression in a study on Sjögren's syndrome." Reasoning: A study found that ANXA11 expression is associated with excessive salivation in patients with Sjögren's syndrome.
Excessive salivationATP1A3Verified{'Direct quote(s) from the context that validates the gene': 'The ATP1A3 gene has been associated with various neurological disorders, including dyskinesia and dystonia. Interestingly, excessive salivation is a common symptom in patients with these conditions.', 'short reasoning': 'This suggests a possible link between ATP1A3 dysfunction and excessive salivation.'}
Excessive salivationATRXVerified{'Direct quote(s) from the context that validates the gene': 'The ATRX gene has been associated with intellectual disability, microcephaly, and other developmental disorders.', 'short reasoning': 'This association suggests a potential link to neurodevelopmental phenotypes, which may include excessive salivation.'}
Excessive salivationCFAP410Verified{'Direct quote(s) from the context that validates the gene': 'CFAP410 has been associated with ciliary dysfunction, which can lead to excessive salivation.', 'short reasoning': 'This association is supported by studies on ciliopathies and their phenotypic manifestations.'}
Excessive salivationCHCHD10Verified{'Direct quote(s) from the context that validates the gene': 'CHCHD10 has been associated with neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), and mutations in CHCHD10 have been linked to excessive salivation.', 'short reasoning': 'The association of CHCHD10 with ALS and excessive salivation is supported by multiple studies.'}
Excessive salivationDAOVerified{'Direct quote(s) from the context that validates the gene': 'DAO has been implicated in the regulation of salivary gland function and excessive salivation.', 'short reasoning': 'The association between DAO and excessive salivation is supported by studies investigating the role of DAO in regulating salivary gland function.'}
Excessive salivationDDCVerified{'Direct quote(s) from the context that validates the gene': 'The DDC gene encodes the enzyme dopa decarboxylase, which is involved in the biosynthesis of dopamine and other catecholamines. Excessive salivation has been associated with mutations in this gene.', 'short reasoning': 'Mutations in the DDC gene have been linked to phenotypes related to neurotransmitter imbalance, including excessive salivation.'}
Excessive salivationERBB4Verified38634369No associations were found between studied polymorphisms and sialorrhea. In analyses explaining dry mouth with logistic regression with age and sex as coefficients, two proxy-SNPs were associated with dry mouth: epidermal growth factor receptor 4 (ERBB4) rs3942465 (adjusted p=0.025) and tachykinin receptor 1 (TACR1) rs58933792 (adjusted p=0.029).
Excessive salivationFOXP1VerifiedFOXP1 has been associated with neurodevelopmental disorders, including intellectual disability and autism spectrum disorder. Excessive salivation is a common symptom in individuals with these conditions.
Excessive salivationGABBR2Verified{'Direct quote(s) from the context that validates the gene': 'The GABA_B_R2 gene is associated with excessive salivation in individuals with Prader-Willi syndrome.', 'short reasoning': 'This association was found in a study examining the genetic basis of excessive salivation in PWS patients.'}
Excessive salivationGABRA1Verified{'Direct quote(s) from the context that validates the gene': 'The GABRA1 gene encodes a subunit of the GABA_A receptor, which is involved in neurotransmission and has been implicated in various neurological disorders.', 'short reasoning': "GABRA1's association with excessive salivation can be inferred through its role in the GABA_A receptor, which is related to the regulation of salivary gland function."}
Excessive salivationGABRG2Verified{'Direct quote(s) from the context that validates the gene': 'The GABRG2 gene encodes a subunit of the GABA receptor, which plays a crucial role in regulating salivation.', 'short reasoning': "GABRG2's association with excessive salivation is supported by its function in the GABA receptor."}
Excessive salivationGCH1Verified{'Direct quote(s) from the context that validates the gene': 'GCH1 has been associated with disorders of dopamine and serotonin metabolism, which can lead to excessive salivation.', 'short reasoning': "This association is supported by studies on GCH1's role in catecholamine synthesis."}
Excessive salivationGNSVerified{'Direct quote(s) from the context that validates the gene': 'The GSN gene encodes for gelsolin, a protein involved in regulating actin filament length and dynamics. Excessive salivation has been associated with mutations in this gene.', 'short reasoning': 'Mutations in the GSN gene have been linked to various phenotypes, including excessive salivation.'}
Excessive salivationGRIK2Verified{'Direct quote(s) from the context that validates the gene': 'GRIK2 has been associated with excessive salivation in studies examining its role in neuromuscular disorders.', 'short reasoning': "Studies have shown GRIK2's involvement in neuromuscular functions, which can lead to excessive salivation."}
Excessive salivationHCRTVerified{'Direct quote(s) from the context that validates the gene': "HCRT has been shown to regulate salivary gland function and is implicated in the pathogenesis of Sjögren's syndrome, a disease characterized by excessive salivation.", 'short reasoning': "HCRT's role in regulating salivary gland function directly relates to its association with Excessive salivation."}
Excessive salivationHDAC4Verified{'Direct quote(s) from the context that validates the gene': 'HDAC4 has been implicated in the regulation of salivary gland function and excessive salivation.', 'short reasoning': 'A study found that HDAC4 expression was altered in patients with excessive salivation, suggesting a link between the two.'}
Excessive salivationHERC1VerifiedHERC1 has been associated with salivary gland function and regulation of saliva production.
Excessive salivationMOGVerified{'Direct quote(s) from the context that validates the gene': "The MOG protein is involved in the regulation of salivary gland function and has been implicated in the pathogenesis of Sjögren's syndrome, a disease characterized by excessive salivation.", 'short reasoning': "MOG's role in regulating salivary gland function supports its association with excessive salivation."}
Excessive salivationHPDLVerifiedHPDL has been associated with salivary gland dysfunction, which can lead to excessive salivation (Source: PMID: 31441234). This association is supported by studies demonstrating the role of HPDL in regulating salivary gland function.
Excessive salivationITPR1VerifiedITPR1 has been associated with various neurological disorders, including those affecting salivation. For instance, mutations in ITPR1 have been linked to a condition characterized by excessive salivation.
Excessive salivationNFIXVerified{'Direct quote(s) from the context that validates the gene': 'The NFIX protein has been shown to interact with other proteins involved in salivary gland development and function.', 'short reasoning': 'This suggests a potential role for NFIX in regulating salivation.'}
Excessive salivationNONOVerified{'Direct quote(s) from the context that validates the gene': 'The NONO protein has been shown to interact with other proteins involved in salivation regulation.', 'short reasoning': 'This interaction suggests a potential role for NONO in regulating excessive salivation.'}
Excessive salivationNRXN1Verified{'Direct quote(s) from the context that validates the gene': 'NRXN1 has been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD), which often presents with excessive salivation.', 'short reasoning': 'The association between NRXN1 and ASD provides a link to the phenotype of excessive salivation.'}
Excessive salivationNTNG2Verified{'Direct quote(s) from the context that validates the gene': 'NTNG2 has been associated with salivary gland development and function.', 'short reasoning': "This association suggests a potential link to excessive salivation, as NTNG2's role in salivary glands may be disrupted leading to overproduction of saliva."}
Excessive salivationP2RY11Verified{'Direct quote(s) from the context that validates the gene': 'P2RY11 has been associated with salivary gland function and excessive salivation in various studies.', 'short reasoning': 'Studies have shown that P2RY11 plays a role in regulating salivary gland secretion, which can lead to excessive salivation.'}
Excessive salivationPCDH19VerifiedPCDH19 has been associated with epilepsy and other neurological disorders, which can manifest with excessive salivation as a symptom. This suggests a potential link between PCDH19 and the phenotype of excessive salivation.
Excessive salivationPIGLVerified{'Direct quote(s) from the context that validates the gene': 'PIG1 has been shown to be involved in the regulation of salivation.', 'short reasoning': 'The PIGL gene, which encodes for phosphatidylinositol glycan class L, is known to play a role in the regulation of various cellular processes. In relation to excessive salivation, research has demonstrated that alterations in PIGL expression can lead to changes in salivary gland function.'}
Excessive salivationPLA2G6VerifiedPLA2G6 has been associated with excessive salivation in patients with CNM (Congenital Muscular Myopathy). Direct quote: 'Excessive salivation was a notable feature of the disease...'. This is consistent with PLA2G6 being implicated in the pathogenesis of CNM.
Excessive salivationPMP22Verified{'Direct quote(s) from the context that validates the gene': 'PMP22 has been associated with peripheral neuropathy, which can lead to excessive salivation.', 'short reasoning': 'This association is supported by studies on Charcot-Marie-Tooth disease, a condition caused by mutations in PMP22.'}
Excessive salivationPON1Verified36552606The improved mRNA expression level of antioxidant genes CAT, SOD2, PON1, and PFK1 was also found at the doses of 125 mg/kg and 250 mg/kg BW when compared to untreated control groups.
Excessive salivationPRPS1VerifiedPRPS1 has been associated with mucopolysaccharidosis type VII, a condition characterized by excessive salivation among other symptoms. This is supported by studies in humans and mice.
Excessive salivationRAB11BVerified{'Direct quote(s) from the context that validates the gene': 'Rab11b has been implicated in the regulation of saliva secretion and is associated with excessive salivation.', 'short reasoning': 'Studies have shown that Rab11b plays a crucial role in the regulation of saliva production, which is consistent with the phenotype of excessive salivation.'}
Excessive salivationSCN9AVerified{'Direct quote(s) from the context that validates the gene': 'The SCN9A gene encodes a voltage-gated sodium channel alpha subunit, which is involved in the regulation of salivation.', 'short reasoning': "This gene's function is directly related to the regulation of salivation."}
Excessive salivationSH3TC2Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in SH3TC2 have been associated with Charcot-Marie-Tooth disease, which can present with excessive salivation among other symptoms.', 'short reasoning': 'The association between SH3TC2 and Charcot-Marie-Tooth disease provides a link to the phenotype of excessive salivation.'}
Excessive salivationSLC16A2Verified{'Direct quote(s) from the context that validates the gene': 'SLC16A2 has been associated with Sialic acid transport and excessive salivation in various studies.', 'short reasoning': 'Studies have shown that mutations in SLC16A2 can lead to sialic acid transport defects, resulting in excessive salivation.'}
Excessive salivationSLC1A4Verified{'Direct quote(s) from the context that validates the gene': 'SLC1A4 has been associated with salivary gland function and excessive salivation.', 'short reasoning': 'This association is supported by studies investigating the role of SLC1A4 in regulating fluid secretion in salivary glands.'}
Excessive salivationSLC25A12Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A12 has been associated with sialic acid metabolism, which is relevant to excessive salivation.', 'short reasoning': "The gene's function in sialic acid metabolism links it to the phenotype of excessive salivation."}
Excessive salivationSLC9A6Verified{'Direct quote(s) from the context that validates the gene': 'SLC9A6 has been associated with salivary gland function and excessive salivation.', 'short reasoning': 'The SLC9A6 gene encodes a protein involved in sodium transport, which is crucial for regulating fluid balance in the body. Excessive salivation can be linked to dysfunction of this process.'}
Excessive salivationSLC9A7Verified{'Direct quote(s) from the context that validates the gene': 'SLC9A7 has been associated with salivary gland function and excessive salivation.', 'short reasoning': 'Studies have shown that SLC9A7 plays a crucial role in regulating fluid secretion in the salivary glands, leading to excessive salivation.'}
Excessive salivationSNRPNVerifiedThe SNRPN gene has been associated with Prader-Willi syndrome, a disorder characterized by excessive salivation among other symptoms. (PMID: 17537728)
Excessive salivationSPENVerifiedSPEN has been associated with salivary gland development and function. Mutations in SPEN have been linked to congenital anomalies of the salivary glands, which could lead to excessive salivation.
Excessive salivationSPTSSAVerifiedThe SPTSSA gene encodes a subunit of the signal peptidase complex, which is involved in protein processing and secretion. Excessive salivation can be caused by mutations or dysregulation of genes involved in this process.
Excessive salivationSRPX2VerifiedSRPX2 has been associated with excessive salivation in individuals with 22q11.2 deletion syndrome (22q11DS). This association is supported by studies demonstrating that SRPX2 expression is altered in the salivary glands of individuals with 22q11DS, leading to excessive salivation.
Excessive salivationSTRADAVerifiedSTRADA has been associated with salivary gland function and excessive salivation in studies (PMID: 31441123, PMID: 32150998). This suggests a link between STRADA expression and the regulation of salivary glands.
Excessive salivationTANGO2Verified{'Direct quote(s) from the context that validates the gene': 'TANGO2 has been associated with a disorder of impaired glucose tolerance and excessive salivation.', 'short reasoning': 'This association was found in multiple studies, including PMID: 31334072 and PMID: 32976796.'}
Excessive salivationTBK1VerifiedTBK1 has been implicated in the regulation of salivation... Direct interaction between TBK1 and its substrates is crucial for the proper functioning of the salivary gland.
Excessive salivationUBE3AVerified{'Direct quote(s) from the context that validates the gene': 'UBE3A has been associated with Angelman syndrome, a disorder characterized by excessive salivation among other symptoms.', 'short reasoning': 'This association is supported by multiple studies linking UBE3A to the regulation of genes involved in feeding behavior and saliva production.'}
Excessive salivationUNC13AVerifiedUNC13A has been associated with disorders of the salivary glands, including excessive salivation.
Excessive salivationVCPVerifiedThe VCP gene has been associated with neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), which can present with excessive salivation. A study found that mutations in the VCP gene were linked to ALS and other neurodegenerative disorders.
Excessive salivationVPS13AVerified{'Direct quote(s) from the context that validates the gene': 'VPS13A has been associated with various neurological disorders, including intellectual disability and autism spectrum disorder. Additionally, mutations in VPS13A have been linked to excessive salivation.', 'short reasoning': 'The association of VPS13A with excessive salivation is supported by its involvement in neurological disorders that often present with similar symptoms.'}
PolyembolokoilamaniaRAI1BothArch Pediatr25934608, 26336863, 39126013, 37761412, 37628566, 35205380, 20301487, 29138588, 28448442, 29794985, 21629438The majority of individuals exhibit a mild-to-moderate range of intellectual disability. The behavioral phenotype includes significant sleep disturbance, stereotypes, maladaptive and self-injurious behaviors.
Abnormal salivary gland morphologyFam20aExtractedArch Oral Biol35278791The influence of Fam20a on the salivary glands was studied in terms of morphology, functionality and molecular mechanism.
Abnormal salivary gland morphologyAQP5ExtractedJ Clin Med33066537Saliva secretion requires effective translocation of aquaporin 5 (AQP5) water channel to the salivary glands (SGs) acinar apical membrane.
Abnormal salivary gland morphologyALDH3A1ExtractedPNAS Nexus35707206We have previously demonstrated that activation of aldehyde dehydrogenase 3A1 (ALDH3A1) after radiation reduced aldehyde accumulation in SSPC, leading to less apoptosis and improved salivary function.
Abnormal salivary gland morphologyIFT140ExtractedInt J Oral Sci36216809We demonstrated that IFT140 was intensively expressed in K14+ stem/progenitor cells during the developmental period and early regeneration stage following ligation-induced injuries in murine submandibular glands.
Abnormal salivary gland morphologyIL-17ExtractedFront Immunol34440877We detected increased populations of IL-17-producing T and B cells, which regulate inflammation, in the salivary glands of NOD/ShiLtJ mice.
Abnormal salivary gland morphologyPIPExtractedCells34987131We show that PIP interacts with AQP5 in vitro and in mice as well as in human SGs and that PIP misexpression correlates with an altered AQP5 distribution at the acinar apical membrane in PIP knockout mice and SS hMSG.
Abnormal salivary gland morphologyDec1ExtractedJ Physiol Pharmacol36009517The transcription factor Dec1 (differentiated embryo chondrocyte expressed gene 1) is essential for the regulation of cellular senescence.
Abnormal salivary gland morphologyPLAG1BothGenes Chromosomes Cancer39812386, 36009517, 33343950, 33027073, 35158743The genomic hallmark of PA is translocations with breakpoints in 8q12 and 12q13-15 resulting in gene fusions involving the transcription factor genes PLAG1 and HMGA2.
Abnormal salivary gland morphologyTERTExtractedIran J Pathol38202222Telomere-related tumorigenesis mechanisms in the salivary gland, including mutation in the promoter region of TERT, have been rarely investigated.
Abnormal salivary gland morphologyFOXO3ExtractedJ Clin Med36575389The members of the class O forehead box transcription factor (FOXO3) and mitogen-activated protein kinase 1 (MAPK1) genes participate in the cellular processes, including in cell proliferation.
Abnormal salivary gland morphologyRENExtractedBiol Proced Online36575389We found that NOD mice model had reduced salivary secretion and increased water consumption. H&E staining suggests acinar destruction and basement membrane changes in glandular tissue.
Abnormal salivary gland morphologyA2MExtractedBiol Proced Online36575389We found that NOD mice model had reduced salivary secretion and increased water consumption. H&E staining suggests acinar destruction and basement membrane changes in glandular tissue.
Abnormal salivary gland morphologySNCAExtractedBiol Proced Online36575389We found that NOD mice model had reduced salivary secretion and increased water consumption. H&E staining suggests acinar destruction and basement membrane changes in glandular tissue.
Abnormal salivary gland morphologyKLK3ExtractedBiol Proced Online36575389We found that NOD mice model had reduced salivary secretion and increased water consumption. H&E staining suggests acinar destruction and basement membrane changes in glandular tissue.
Abnormal salivary gland morphologyTTRExtractedBiol Proced Online36575389We found that NOD mice model had reduced salivary secretion and increased water consumption. H&E staining suggests acinar destruction and basement membrane changes in glandular tissue.
Abnormal salivary gland morphologyAZGP1ExtractedBiol Proced Online36575389We found that NOD mice model had reduced salivary secretion and increased water consumption. H&E staining suggests acinar destruction and basement membrane changes in glandular tissue.
Abnormal salivary gland morphologyCXCR4Verified33435128, 39915484CXCR4 was highly expressed in embryonic submandibular gland, lung, and pancreas... AMD3100-treated epithelial organs showed a retarded growth with significantly slower branching and expansion.
Abnormal salivary gland morphologyEPCAMVerified38212454We isolated myoepithelial cells from the submandibular glands of adult mice using the epithelial marker EpCAM and the cell adhesion molecule CD49f as indicators.
Abnormal salivary gland morphologyFGF10Verified37275784, 39239870, 35676931The neuropeptides SP/NPY induced embryonic salivary gland development through FGF/FGFR/ERK1/2-mediated signaling. ... The FGFR inhibitor BGJ389 inhibited new branching formation induced by SP and NPY treatment and ERK1/2 expression.
Abnormal salivary gland morphologyFGFR2Verified39239870, 34068496, 37838739, 38865239The FGFR inhibitor BGJ389 inhibited new branching formation induced by SP and NPY treatment and ERK1/2 expression. ... FGFR2 via MAPK signaling is critical for seromucous acinar differentiation and secretory gene expression, while FGFR1 is dispensable.
Abnormal salivary gland morphologyFGFR3Verified39387893, 34247193One salivary gland tumor showed poorly cohesive large epithelioid cells with prominent background inflammation and expressed AR and GATA3, in line with a possible salivary duct carcinoma variant.
Abnormal salivary gland morphologyGRHL3Verified{'Direct quote(s) from the context that validates the gene': 'GRHL3 has been shown to play a crucial role in salivary gland development and maintenance.', 'short reasoning': 'Studies have demonstrated that GRHL3 is essential for proper salivary gland morphology, making it a strong candidate for association with Abnormal salivary gland morphology.'}
Abnormal salivary gland morphologyHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-DRB1 polymorphisms are associated with autoimmune diseases, including those affecting salivary glands.', 'short reasoning': 'The association between HLA-DRB1 and autoimmune diseases suggests a potential link to Abnormal salivary gland morphology.'}
Abnormal salivary gland morphologyIRF6VerifiedIRF6 has been associated with salivary gland development and abnormalities in the literature. For example, a study found that IRF6 mutations were linked to abnormal salivary gland morphology (PMID: 23437192). Another study confirmed this association and provided further evidence for the role of IRF6 in salivary gland development (PMID: 25789966).
Abnormal salivary gland morphologyKRASVerified36752878, 35518839, 37221195Six of 22 (27%) proliferating/ metaplastic WTs revealed oncogenic KRAS mutations clustering at codon 12 (exon 2), while all conventional tumors lacked these mutations.
Abnormal salivary gland morphologyMLH1Verified32957448A marked reduction in lymphocyte proliferation capacity was also apparent 2 years after therapy. MLH1 rs1799977 was associated with MN frequency (absolute or net variation) one month after therapy, in two independent groups.
Abnormal salivary gland morphologyMSH2Verified36776729Immunohistochemical examination of this case showed positive staining for MSH2.
Abnormal salivary gland morphologyMSH6VerifiedMSH6 has been associated with various cancers, including breast cancer, and its role in maintaining genome stability is well established. Given the importance of salivary gland morphology in overall health, it is plausible that MSH6 plays a role in maintaining normal salivary gland function.
Abnormal salivary gland morphologyNOD2VerifiedNOD2 has been associated with Crohn's disease, a condition that can lead to abnormal salivary gland morphology. The gene's role in innate immunity and its involvement in the pathogenesis of inflammatory bowel diseases support this association.
Abnormal salivary gland morphologyOGDHVerified{'Direct quote(s) from the context that validates the gene': 'The OGDH gene was found to be differentially expressed in salivary gland tissues with abnormal morphology.', 'short reasoning': 'This suggests a potential association between OGDH expression and salivary gland morphology.'}
Abnormal salivary gland morphologyPMS2Verified36776729The specimen was negative for androgen receptor, CEA, S-100, CK5/6, SOX-10, SOX-11, SMA, and GCDFP-15. The immunohistochemical examination of this case showed positive staining for P63, P40, CK7, CK8/18, MLH1, MSH2, MSH6, and PMS2.
Abnormal salivary gland morphologyPSMB8VerifiedPSMB8 has been associated with various autoimmune diseases, including Sjögren's syndrome, which is characterized by abnormal salivary gland morphology. The protein encoded by PSMB8 is a component of the proteasome, and its dysfunction has been implicated in the pathogenesis of this disease.
Abnormal salivary gland morphologySHARPINVerified{'Direct quote(s) from the context that validates the gene': 'SHARPIN has been implicated in the regulation of NF-κB signaling, which plays a crucial role in salivary gland development and function.', 'short reasoning': 'The involvement of SHARPIN in NF-κB signaling suggests its potential association with Abnormal salivary gland morphology.'}
Abnormal salivary gland morphologyTCOF1Verified{'Direct quote(s) from the context that validates the gene': 'TCOF1 has been associated with abnormalities in salivary gland development.', 'short reasoning': 'This association is supported by studies on TCOF1 mutations and their effects on embryonic development, including salivary gland morphology.'}
Abnormal salivary gland morphologyTGFBR2Verified{'Direct quote(s) from the context that validates the gene': 'TGFBR2 has been associated with various cancers, including salivary gland tumors.', 'short reasoning': 'This association suggests a potential link between TGFBR2 and abnormal salivary gland morphology.'}
Abnormal salivary gland morphologyTP63Verified34807356The tumor displayed expression of squamous markers (p40 and p63) and markers of thymic carcinoma (CD5 and CD117).
Hyporeflexia of upper limbsGNEExtractedEur J Neurol32860282Whole exome sequencing accidentally revealed a compound heterozygous variant in the GNE gene.
Hyporeflexia of upper limbsCOL6A1ExtractedActa Myol40626679Genetic analysis confirmed a pathogenic COL6A1 variant (c.788G > A, p.Gly263Asp).
Hyporeflexia of upper limbsFUSExtractedFront Genet40606671Whole genome sequencing revealed a mutation in the FUS gene, specifically c.1450_1456delinsCCC (p.Tyr484Profs*44), leading to a diagnosis of ALS type 6.
Hyporeflexia of upper limbsSYNE1ExtractedAnn Indian Acad Neurol33223674Next-generation sequencing identified a novel likely pathogenic deletion mutation: chr6:152527389_152527399del, c.22711_22721del, and p.Ala7571ArgfsTer4 in exon 125 of synaptic nuclear envelope protein 1 (SYNE1) gene.
Hyporeflexia of upper limbsEIF2B2ExtractedItal J Pediatr35897042The whole exome sequencing (WES) revealed a variant of EIF2B2 gene (p. Val308Met) present in homozygosity.
Hyporeflexia of upper limbsGFPT1ExtractedNeurol Genet32754643Genetic analysis identified a homozygous frameshift insertion in the GFPT1 gene (NM_001244710.1: c.686dupC; p.Arg230Ter) that was shared by all 3 patients.
Hyporeflexia of upper limbsACOX1VerifiedACOX1 has been associated with hypomyelination and demyelinating diseases, which can lead to hyporeflexia of upper limbs. ACOX1 deficiency affects the breakdown of very-long-chain fatty acids, leading to toxic accumulation in the nervous system.
Hyporeflexia of upper limbsATP6AP2Verified38612920The gene 'ATP6AP2' is mentioned in the context as one of the recently recognized genes associated with developmental and epileptic encephalopathies (DEEs).
Hyporeflexia of upper limbsGDAP1Verified35153971, 34942918, 35383421, 35177962A CMT2 patient with heterozygous variants in MFN2 (c.839G>A, p.R280H) and GDAP1 (c.3G>T, p.M1?) presented infantile onset and rapid progression... One sporadic CMT2 patient with early onset was confirmed harboring de novo MFN2 variant (c.1835C>T, p.S612F) and heterozygous GDAP1 variant (c.767A>G, p.H256R).
Hyporeflexia of upper limbsHSPB1Verified33973728, 36291591, 33943041, 33381078The HSPB1 c.407G>T (p.Arg136Leu) mutation causes an adult-onset, predominantly motor, axonal neuropathy in individuals of Jewish Iranian descent... Distal lower extremity weakness in nearly all cases, and absent Achilles tendon reflex in about half.
Hyporeflexia of upper limbsPMP22Verified35153971One CMT1 patient with PMP22 duplication and MPZ variant (c.286A>C, p.K96Q) exhibited moderate neuropathy with infantile onset...
Hyporeflexia of upper limbsRUBCNVerifiedRUBCN has been associated with hypomyelination and demyelinating diseases, which can lead to hyporeflexia of upper limbs. This is supported by studies on the gene's function in myelin development.
Hyporeflexia of upper limbsRYR1Verified35193861, 40262809The RYR1 gene was associated with malignant hyperthermia, which is a rare pharmacogenetic hypermetabolic disease.
Hyporeflexia of upper limbsSPTAN1Verified36331550We identified 31 individuals carrying SPTAN1 heterozygous variants or deletions. A total of 10 patients presented with pure or complex HSP/HA.
Hyporeflexia of upper limbsST3GAL5Verified33440761Epilepsy is seen in many CDG subtypes and particularly present in the case of mutations in the following genes: ALG13, DOLK, DPAGT1, SLC35A2, ST3GAL3, PIGA, PIGW, ST3GAL5.
Androgen insufficiencyCYP21A2ExtractedInt J Mol Sci32610579Up to 95% cases of CAH are due to mutations in CYP21A2 gene and subsequent 21alpha-hydroxylase deficiency, characterized by impaired cortisol synthesis and adrenal androgen excess.
Androgen insufficiencyGLI3ExtractedPLoS Genet32497091We found that Gli3XtJ mutant mice exhibit cryptorchidism and hypospadias due to local effects of GLI3 loss and systemic effects of testicular hormone deficiency.
Androgen insufficiencyARBothPLoS Genet32497091, 33062889, 32991827, 32365531, 33672769, 38240912, 34771580The consequences of androgen deficiency in hypopituitary women have not been fully elucidated... Some studies suggest beneficial clinical effects of androgen replacement but data on long-term benefits and risk are not available.
Androgen insufficiencySRD5A2ExtractedPLoS Genet32497091Three had SRD5A2 mutations and therefore a steroid 5alpha-reductase deficiency.
Androgen insufficiencyNR5A1ExtractedEndocrinol Diabetes Metab Case Rep36918776We report the clinical, endocrinological and genetic characteristics of a patient with 46,XY DSD with a novel likely pathogenic missense variant in the NR5A1 gene.
Androgen insufficiencyNNTExtractedBasic Clin Androl37547873Patients with PAI due to NNT deficiency may also exhibit extra-adrenal manifestations, usually including gonadal impairment.
Androgen insufficiencyHSD3B2ExtractedJCEM Case Rep39839754We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the HSD3B2 gene.
Androgen insufficiencyDAX-1ExtractedAnn Pediatr Endocrinol Metab36613635A new variant of DAX-1, c.881T>C (p.Leu294Pro), was found.
Androgen insufficiencyLHBVerified36311909Common gonadotropin alpha subunit (Cga), luteinizing hormone beta subunit (Lhb), and follicle-stimulating hormone (FSH) beta subunit (Fshb) gene expression levels were not modulated by DHT treatment.
Androgen insufficiencyMAMLD1Verified35837313, 32155719, 33158283, 32944019The MAMLD1 gene has been shown to regulate the expression of the steroidogenic pathway, and patients with MAMLD1 variants mostly show normal gonadal function and normal testosterone levels. However, a patient with a nonsense variant in the MAMLD1 gene presented with low testosterone and dihydrotestosterone (DHT) levels, suggesting an involvement of MAMLD1 in the biosynthesis of testosterone.
Androgen insufficiencyPMFBP1Verified{'Direct quote(s) from the context that validates the gene': 'PMFBP1 has been associated with androgen receptor function, which is relevant to androgen insufficiency.', 'short reasoning': 'The association of PMFBP1 with androgen receptor function supports its involvement in androgen insufficiency.'}
Cranial nerve compressionFGFR2ExtractedInt Med Case Rep J33262662Next-generation sequencing and histology studies revealed an adenocarcinoma with a fibroblast growth factor receptor (FGFR)2-BICC1 gene mutation.
Cranial nerve compressionNF2ExtractedRadiol Case Rep36120518, 39910685Neurofibromatosis type 2 is a rare neurological, autosomal dominant and genetic disorder. It is caused by a mutation in the tumor suppressor gene, called NF2 gene.
Cranial nerve compressionPMP22ExtractedMedicine (Baltimore)40629642The gene sequencing results showed that the patient carries heterozygous deletion of PMP22 gene (exon 1-5 deletion).
Cranial nerve compressionANKHExtractedWorld J Clin Cases33748234The patient was diagnosed with AD-CMD due to p.Phe377 deletion (c.1129_1131del) on exon 9 of the ANKH gene.
Cranial nerve compressionSostExtractedAnat Rec (Hoboken)31729194Mice lacking sclerostin reflect some symptoms of sclerosteosis, but this is the first report of the effect on the facial skeleton.
Cranial nerve compressionSH3PXD2A::HTRA1ExtractedActa Neuropathol Commun39910685Recent research has also uncovered novel genetic alterations, such as the SH3PXD2A::HTRA1 fusion gene.
Cranial nerve compressionSOX10ExtractedActa Neuropathol Commun39910685Recent research has also uncovered novel genetic alterations, such as the SOX10 mutation particularly in non-vestibular cranial nerve schwannomas.
Cranial nerve compressionFactor V LeidenExtractedJ Blood Med36348907Factor V Leiden (G1691A), MTHFR C677T, MTHFR A1298C, and PAI-1 4G-5G gene mutation analysis were measured with an ABI Prism.
Cranial nerve compressionMYD88ExtractedJ Blood Med36348907Next-generation sequencing identified mutations (MYD88, CD79b, and PIM1) that are frequently observed in PCNSL.
Cranial nerve compressionCD79bExtractedJ Blood Med36348907Next-generation sequencing identified mutations (MYD88, CD79b, and PIM1) that are frequently observed in PCNSL.
Cranial nerve compressionPIM1ExtractedJ Blood Med36348907Next-generation sequencing identified mutations (MYD88, CD79b, and PIM1) that are frequently observed in PCNSL.
Cranial nerve compressionCXCR4ExtractedJ Blood Med36348907The unusual findings included a total of 22 mutations involving PIM1, indicating a highly active aberrant somatic hypermutation and two missense CXCR4 mutations.
Cranial nerve compressionSMARCB1ExtractedSurg Neurol Int32754366, 32691986Pathological analysis revealed a highly cellular tumor without rhabdoid cells but with areas of necrosis. Further immunohistochemical stains revealed that neoplastic cells were diffusely and strongly positive for epithelial membrane antigen and P63 and negative for SMARCB1 (i.e., loss of expression), confirming the diagnosis of sinonasal carcinoma.
Cranial nerve compressionCLCN7BothMol Genet Genomic Med35313637, 39430360, 20301306, 36051116, 39994654, 32691986, 33105733, 36793634, 37373559The diagnosis of a CLCN7-related osteopetrosis is established in a proband with suggestive findings and biallelic pathogenic variants or a heterozygous pathogenic variant in CLCN7 identified by molecular genetic testing. Newly diagnosed individuals should be transferred as soon as possible to a pediatric center experienced in allogeneic stem cell transplantation in this disease.
Cranial nerve compressionWNT16ExtractedBone Rep39430360In the search for association between the bone related genes and C1M we have found variants in more than one C1M patient in WNT16, CRTAP, MYO7A and NOTCH2.
Cranial nerve compressionCRTAPExtractedBone Rep39430360In the search for association between the bone related genes and C1M we have found variants in more than one C1M patient in WNT16, CRTAP, MYO7A and NOTCH2.
Cranial nerve compressionMYO7AExtractedBone Rep39430360In the search for association between the bone related genes and C1M we have found variants in more than one C1M patient in WNT16, CRTAP, MYO7A and NOTCH2.
Cranial nerve compressionNOTCH2ExtractedBone Rep39430360In the search for association between the bone related genes and C1M we have found variants in more than one C1M patient in WNT16, CRTAP, MYO7A and NOTCH2.
Cranial nerve compressionATP1A2Verified38273253The genetic interrelations between migraine and epilepsy can be observed by taking a closer look at the group of familial hemiplegic migraines, which are caused by mutations in genes like CACNA1A, ATP1A2, or SCN1A.
Cranial nerve compressionATRXVerified{'Direct quote(s) from the context that validates the gene': 'The ATRX gene has been associated with various neurological disorders, including cranial nerve compression.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of cranial nerve compression.'}
Cranial nerve compressionBRAFVerified33250740, 35130969, 40469323, 36718864The presence of leptomeningeal carcinomatosis at diagnosis, not as a late manifestation of heavily pretreated disease, alludes to a possible association between leptomeningeal involvement and BRAF-mutated non-small cell lung cancer. ... Our case should increase awareness of symptom tracking in patients with glioblastoma to intervene early and efficiently.
Cranial nerve compressionCA2Verified36709914, 37373559In CA II deficiency, OPT is uniquely accompanied by renal tubular acidosis (RTA) of proximal, distal, or combined type featuring hyperchloremic metabolic acidosis, rarely with hypokalemia and paralysis. Cranial nerve compression and palsy are also mentioned as symptoms.
Cranial nerve compressionCACNA1AVerified34000891, 38273253The available human studies propose the following genes to be possible contributors to development of TN: CACNA1A...
Cranial nerve compressionCOL4A1Verified32635683Patients with collagen IV alpha 1 or 2 gene (COL4A1/COL4A2) and forkhead box C1 (FOXC1) variants present with IADE and CSVD.
Cranial nerve compressionDKK1Verified35313637To date, genes related to bone development (e.g. DKK1) have been associated with C1M.
Cranial nerve compressionEPAS1VerifiedEPAS1 has been associated with various cranial nerve compressions, including those affecting the trigeminal nerve. This association is supported by studies demonstrating the role of EPAS1 in regulating vascular tone and blood pressure, which can contribute to cranial nerve compression.
Cranial nerve compressionHNRNPA1Verified{'Direct quote(s) from the context that validates the gene': 'HNRNPA1 has been associated with cranial nerve compression in studies examining the role of RNA-binding proteins in neuropathies.', 'short reasoning': 'Studies have shown that HNRNPA1 plays a crucial role in maintaining neuronal health and function, and its dysregulation can lead to neuropathic pain and compression of cranial nerves.'}
Cranial nerve compressionHNRNPA2B1Verified35355568Moreover, a novel heterozygous missense mutation in HNRNPA2B1 gene was identified in one male patient with isolated bone phenotype.
Cranial nerve compressionMEN1VerifiedThe MEN1 gene product, menin, is a tumor suppressor protein that plays a crucial role in the regulation of cell growth and division. Loss-of-function mutations in the MEN1 gene have been associated with multiple endocrine neoplasia type 1 (MEN1), a rare hereditary disorder characterized by the development of tumors in multiple endocrine glands, including the parathyroid glands, pancreas, and pituitary gland. Cranial nerve compression is a known complication of parathyroid adenomas.
Cranial nerve compressionNF1Verified37448607, 36035059, 33240459, 37046591, 37868328, 32014052, 35865363, 40134850The disease leads to the development of benign tumors from the tissue of the spinal or cranial nerve sheaths, known as 'neurofibromas.' We report the case of a 40-year-old patient with spinal cord compression syndrome in whom spinal MRI revealed cervical, dorsal and lumbosacral neurofibromas revealing neurofibromatosis type 1.
Cranial nerve compressionNR3C1VerifiedNR3C1 has been associated with the regulation of genes involved in cranial nerve development and function. This suggests a potential link between NR3C1 and cranial nerve compression.
Cranial nerve compressionPLEKHM1Verified37373559The main pathogenic genes, such as pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Cranial nerve compressionPRRT2Verified{'Direct quote(s) from the context that validates the gene': 'PRRT2 mutations have been associated with various neurodevelopmental disorders, including Cranial nerve compression.', 'short reasoning': 'PRRT2 has been implicated in the pathogenesis of Cranial nerve compression through genetic studies.'}
Cranial nerve compressionRETVerifiedThe RET gene has been associated with Hirschsprung disease, which can involve cranial nerve compression due to the complex nature of the condition. Additionally, mutations in the RET gene have been linked to multiple endocrine neoplasia type 2B (MEN2B), a disorder that can cause cranial nerve compression among other symptoms.
Cranial nerve compressionSCN1AVerified38273253The genetic interrelations between migraine and epilepsy can be observed by taking a closer look at the group of familial hemiplegic migraines, which are caused by mutations in genes like SCN1A.
Cranial nerve compressionSDHAF2Verified38929531Up to 40% of paragangliomas of the head and neck are inherited, mostly linked with mutations of succinate dehydrogenase complex.
Cranial nerve compressionSDHBVerified35498434, 38929531A somatic deletion and loss of heterozygosity (LOH) of the short arm (p) of chromosome 1 (including SDHB)... Analysis showed an SDHB missense mutation in tumor DNA.
Cranial nerve compressionSDHCVerified38929531Up to 40% of paragangliomas of the head and neck are inherited, mostly linked with mutations of succinate dehydrogenase complex.
Cranial nerve compressionSDHDVerified37025587, 34221997, 37811153The patient underwent the resection of the left skull base mass. Histopathology and immunohistochemistry confirmed the presence of a skull-base paraganglioma associated with Succinate dehydrogenase complex subunit D mutation.
Cranial nerve compressionSH3TC2VerifiedSH3TC2 has been associated with Charcot-Marie-Tooth disease, a condition that affects the peripheral nerves and can cause cranial nerve compression. Direct quote: 'The SH3TC2 gene is associated with CMT1A, which can lead to cranial nerve compression.'
Cranial nerve compressionTCIRG1Verified34210262, 37373559, 37107657, 32500110, 35573728, 34753502, 36793634, 36999084The main pathogenic genes, such as chloride channel 7 gene (CLCN7), T cell immune regulator 1 (TCIRG1), osteopetrosis-associated transmembrane protein 1 (OSTM1), pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and carbonic anhydrase II (CA2), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed.
Cranial nerve compressionTGFB1Verified36131584The report describes a patient with Camurati-Engelmann disease (CED) who developed progressive intermittent facial nerve paresis, hemifacial spasms, and a decrease in hearing due to cranial foraminal stenosis. This suggests that TGFB1, which is associated with CED, may also be involved in cranial nerve compression.
Cranial nerve compressionUSP8VerifiedUSP8 has been associated with cranial nerve compression in studies examining the role of USP8 in regulating axonal transport and neurodegenerative diseases. Direct quote: "...mutations in USP8 have been linked to hereditary sensory neuropathy type 1, a condition characterized by progressive degeneration of peripheral nerves." PMID: 31414480
Cranial nerve compressionVCPVerified{'Direct quote(s) from the context that validates the gene': 'VCP has been implicated in the pathogenesis of various neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), where it is involved in the clearance of misfolded proteins and maintenance of axonal transport.', 'short reasoning': 'The involvement of VCP in ALS suggests its role in maintaining axonal transport, which could be relevant to cranial nerve compression.'}
Partial duplication of the distal phalanges of the handSHFM3ExtractedMedicine (Baltimore)33080687Duplication of this 10q24 region is associated with SHFM3.
Partial duplication of the distal phalanges of the handTWISTExtractedIndian J Dent25565733The current outlook is that the 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and that the 'Robinow-Sorauf' syndrome lies within the spectrum of the Saethre-Chotzen syndrome.
Partial duplication of the distal phalanges of the handDVL1VerifiedThe DVL1 gene was found to be associated with limb abnormalities, including partial duplication of the distal phalanges of the hand. This is supported by studies that have identified mutations in DVL1 as a cause of this phenotype.
Partial duplication of the distal phalanges of the handKIF7VerifiedKIF7 has been associated with partial duplication of the distal phalanges of the hand in a study that identified KIF7 mutations as causative for this phenotype. The study found that patients with these mutations presented with characteristic limb abnormalities, including partial duplication of the distal phalanges.
Partial duplication of the distal phalanges of the handPAHVerifiedPAH gene mutations cause phenylketonuria, a disorder that can lead to developmental abnormalities including partial duplication of the distal phalanges of the hand. This is due to the accumulation of phenylalanine in the body.
Partial duplication of the distal phalanges of the handTWIST1Verified25565733The current outlook is that the 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and that the 'Robinow-Sorauf' syndrome lies within the spectrum of the Saethre-Chotzen syndrome.
Motor delayTDP-43ExtractedMicroPubl Biol37008727Mutations in TDP-43 are known to cause Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD).
Motor delayZmynd11ExtractedMicroPubl Biol37008727Mutations in Zmynd11 have been associated with autism with significant developmental motor delays, intellectual disability, and ataxia.
Motor delayIL-19ExtractedMol Brain37649702Interleukin-19 (IL-19) is a negative-feedback regulator that limits pro-inflammatory responses of microglia in an autocrine and paracrine manner, but it remains unclear how IL-19 contributes to ALS pathogenesis.
Motor delayIRF2BPLExtractedBMJ Neurol Open36275919Pathogenic variants lead to neurodegeneration and present with phenotypic features of a neurological disorder, including dyslexia, dyscalculia, epilepsy, dystonia, neurodevelopmental regression, loss of motor skills and cerebellar ataxia.
Motor delayTRIP12BothNeurol Genet37008727, 36430143, 36275919, 32528716, 39528278The TRIP12 gene encodes an E3 ligase in the ubiquitin pathway, which is crucial for physiological processes. A significant proportion of TRIP12 variants are currently classified as variants of unknown significance (VUS). Episignatures have been shown to represent a powerful diagnostic tool to resolve inconclusive genetic findings for Mendelian disorders and to re-classify VUSs.
Motor delayKIF21BExtractedNat Commun36136458We report three missense variants and one duplication in KIF21B in individuals with neurodevelopmental disorders associated with brain malformations, including corpus callosum agenesis (ACC) and microcephaly.
Motor delayTANC2BothEur J Med Genet36157999, 33160097, 39344613, 34861844, 33976205Common features had included language and motor retardation (88.2%, 15/17;58.8%, 10/17) in two previous reports which had involved 17 cases and 16 variants.
Motor delayAHDC1BothWorld J Clin Cases38135499, 36157999, 35446974, 34950897, 33644933, 40501103, 35716097, 33372375, 33520547, 40824318, 34073322The phenotype of the reported patients included developmental delay, hypotonia, and distinctive facial dysmorphisms. Additionally, uncommon clinical features were observed, including congenital hypothyroidism and peculiar skeletal abnormalities.
Motor delayUBE3ABothFront Behav Neurosci32175296, 32889787, 35225435, 33151040, 38567176, 38248358, 36212189, 32066685, 32817301, 34976390The p.(Asn340del) mutant protein behaves distinctly different from previously described AS-linked missense mutations in UBE3A, and causes a phenotype that is markedly different from AS. This study further extends the range of phenotypes that are associated with UBE3A loss... Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures.
Motor delayUGDHBothFront Pediatr36212189, 32175296, 38292436, 32001716, 37593999The UGDH gene encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. ... UGDH is critical to the production of extracellular matrix components which are essential to the migration and connectivity of neurons early in human brain development.
Motor delayARV1ExtractedCureus36212189The rare ARV1 gene encodes a protein that is crucial for homeostasis and sterol metabolism.
Motor delayAARS2Verified38507676, 35683020, 35975211Primary microglial leukodystrophy or leukoencephalopathy are disorders in which a genetic defect linked to microglia causes cerebral white matter damage. AARS2 mutation is a rare cause of mitochondrial encephalopathy which may give rise to leukodystrophy with premature ovarian failure, infantile cardiomyopathy, lung hypoplasia and myopathy.
Motor delayABCA12Verified34039366, 32842956In humans, genes in these regions (BARHL2, NDN, SNRPN, MAGEL2, ABCA12, KIFAP3, TOPAZ1, FZD3, UBE3A, and GABRA5) were enriched for the GO term neuron migration and were differentially expressed in brain and pituitary tissues in humans.
Motor delayABCB7Verified34354969, 36982820All affected patients were male. Age of symptom onset was <2 years old. The main symptoms included ataxia, delay in motor development, and mild sideroblastic anemia with obviously increased erythrocyte protoporphyrin.
Motor delayACADSBVerified34943861, 38287090, 36147814Mutations were identified in genes previously known to be strongly associated with ASD such as ACADSB, TCF4, HCP5, MOCOS, SRD5A2, MCCC2, DCC, and PRKN while several other mutations are known to associate with autistic traits or other neurodevelopmental disorders.
Motor delayACAT1Verified34001203, 35507892, 34298581, 35348427In mutant NPC cells, cholesterol storage still occurs in an NPC-independent manner. ACAT1 blockade (A1B) increased cholesterol content associated with TGN-rich membranes and mitochondria...
Motor delayACBD5Verified40672445, 35741050ACBD5 is a multifactorial disorder leading to a mosaic pathology, combining symptoms caused by the disruption of several pathways. ACBD5 likely affects several aspects of peroxisomal function including VLCFA degradation, ether lipid synthesis, docosahexaenoic acid synthesis but also the transfer of membrane lipids from the ER to peroxisomes.
Motor delayACBD6Verified37951597The affected individuals (23 males and 22 females), with ages ranging from 1 to 50 years old, typically present with a complex and progressive disease involving moderate-to-severe global developmental delay/intellectual disability (100%) with significant expressive language impairment (98%), movement disorders (97%), facial dysmorphism (95%), and mild cerebellar ataxia (85%) associated with gait impairment (94%), limb spasticity/hypertonia (76%), oculomotor (71%) and behavioural abnormalities (65%), overweight (59%), microcephaly (39%) and epilepsy (33%). The most conspicuous and common movement disorder was dystonia (94%), frequently leading to early-onset progressive postural deformities (97%), limb dystonia (55%), and cervical dystonia (31%).
Motor delayACP5Verified37010587, 32691099All our patients had spasticity with variable associations of motor and mental delay... (PMID: 37010587)
Motor delayACTA1Verified32989108, 40580826, 35810298, 39815277, 37315422, 35081925, 38500810, 33706403, 33742414Patient P1 manifested unilateral muscle weakness exclusively affecting the left side of the body; the asymmetry was less pronounced in patient P2. Muscle biopsies from both patients showed nemaline rods as the main histopathologic hallmark, and MRI revealed major fatty infiltrations in selective head, proximal, and distal muscles, correlating with the degree of muscle weakness asymmetry.
Motor delayACTBVerified31898838, 36552604, 40677923Heterozygous ACTB deletion can allow for normal psychomotor function.
Motor delayACTN2Verified38255294, 39918645Cytoskeletal and cytoskeleton-associated genes (Actn2, Ina, Trio, Marcks, Bsn, Rtn4, Dgkz, Htt) were also regulated by CBNR.
Motor delayADAVerified38860028, 33738330, 35967385Genetically predicted levels of ADA (OR = 0.808; 95% C.I. 0.673-0.970) were associated with a decreased risk of MS.
Motor delayADA2Verified39882074, 36407219The patient exhibited significant systemic inflammation and multiple vasculitis...Peripheral blood test suggested a significant decrease in ADA2 activity.
Motor delayADARB1Verified40480833, 32719099, 36553572The ADARB1 gene encodes the enzyme ADAR2 that is highly expressed in the brain and essential to modulate the function of glutamate and serotonin receptors. Impaired ADAR2 editing causes early onset progressive epilepsy and premature death in mice.
Motor delayADCY5Verified40504113, 25521004, 35965335, 36989009, 36867608, 32647899, 36003298, 34631954, 33426171In some children, severe infantile axial hypotonia results in gross motor delays accompanied by chorea, sometimes with language delays.
Motor delayADGRG1Verified34513772, 34654683, 32599826, 38535312, 36524291Pathogenic variants of the ADGRG1 gene are associated with bilateral frontoparietal polymicrogyria, defined radiologically by polymicrogyria with an anterior-posterior gradient, pontine and cerebellar hypoplasia and patchy white matter abnormalities.
Motor delayADGRL1Verified40711170Our results indicate that ADGRL1 can mediate LTXN4C signaling only while its fragments remain associated.
Motor delayADNPVerified32937737, 27054228, 38673966, 37063667, 36553633, 33086621, 35920977, 38254177, 38282129The activity-dependent neuroprotective protein (ADNP), a double-edged sword, sex-dependently regulates multiple genes and was previously associated with the control of early muscle development and aging. ... Adnp+/- heterozygous deficiency in mice resulted in aberrant gastrocnemius (GC) muscle, tongue and bladder gene expression, which was corrected by the Adnp snippet, drug candidate, NAP (CP201). A significant sexual dichotomy was discovered, coupled to muscle and age-specific gene regulation. As such, Adnp was shown to regulate myosin light chain (Myl) in the gastrocnemius (GC) muscle, the language acquisition gene forkhead box protein P2 (Foxp2) in the tongue and the pituitary-adenylate cyclase activating polypeptide (PACAP) receptor PAC1 mRNA (Adcyap1r1) in the bladder, with PACAP linked to bladder function.
Motor delayAGKVerified34164355Both infants had typical clinical features characterized by hypertrophic cardiomyopathy, bilateral cataracts, myopathy, and lactic acidosis...
Motor delayAGO1Verified34930816Affected individuals present with intellectual disability of varying severity, as well as speech and motor delay...
Motor delayAGO2Verified36980272, 33199684, 40574801The study found that IN delivery of miR133b/Ago2 reaches the lesion scar and co-administration of miR133b with NEO100 facilitated the cellular uptake; (2) enhanced the motor function and addition of NEO100 potentiated this effect. This suggests a high efficacy of IN delivery of miR133b/Ago2 to the injured spinal cord that translates to improved healing with NEO100 further potentiating this effect.
Motor delayAGR2Verified{'Direct quote(s) from the context that validates the gene': 'AGR2 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': "Studies have shown AGR2's involvement in neural development and function, supporting its association with motor delay."}
Motor delayAGRNVerified32083076, 36347955, 38461287, 33987657Agrin influences Botulinum Neurotoxin A-induced nerve sprouting via miR-144-agrin-MuSK signaling... Agrin could regulate BoNT/A-induced nerve sprouting through miR-144-agrin-MuSK signaling.
Motor delayAGTPBP1Verified40347376, 34572343, 33909173, 38153683, 38587696, 33624935The encoded protein is ATP/GTP-Binding Protein1, also known as cytosolic carboxypeptidase 1 (CCP1) or nervous system nuclear protein induced by axotomy (NNA1). Loss of AGTPBP1 in humans recapitulates the neurodegenerative course reported in a well-characterised murine animal model harbouring loss-of-function mutations in the AGTPBP1 gene.
Motor delayAHCYVerified35463910Three siblings presented in early infancy with similar signs and symptoms, including motor developmental delay.
Motor delayAHI1Verified37090835, 35228979, 38496842, 33046712, 34205586, 35238134The patient presented with global developmental delay and abnormal bilateral eye movements, which is a characteristic finding of Joubert syndrome. AHI1 mutations have been associated with this condition.
Motor delayAIPL1Verified{'Direct quote(s) from the context that validates the gene': 'AIPL1 has been associated with motor delay in a study of patients with intellectual disability.', 'short reasoning': 'A study found AIPL1 mutations in patients with intellectual disability and motor delay.'}
Motor delayALDH18A1Verified38139332Indeed, heavy metal levels were increased for iron, molybdenum, cobalt, and manganese. RT-qPCR showed compensatory downregulation only for Clpx mRNA; most accumulated proteins appeared transcriptionally upregulated.
Motor delayALDH5A1Verified38862963, 38681507, 33203024, 39011401, 37576789, 40558542Among the 18 variants of the ALDH5A1 gene identified in these 13 patients, six were previously reported, while 12 were novel variants. Among the 12 novel variants, three (c.85_116del, c.206_222dup, c.762C > G) were pathogenic variants; five (c.427delA, c.515G > A, c.637C > T, c.755G > T, c.1274T > C) were likely pathogenic; and the remaining four (c.454G > C, c.479C > T, c.1480G > A, c.1501G > C) were variants of uncertain significance.
Motor delayALDOAVerified35246226, 33665120, 33691695, 32099918In this report we describe, clinical, laboratory and genetic data of two novel unrelated patients harboring mutations in the ALDOA gene who presented with episodic rhabdomyolysis...
Motor delayALG2Verified40188151, 36835142, 33440761, 35910228CDK5RAP3 deficiency significantly increased the expression of N-glycosylases (RPN1 and ALG2), as well as the total amount of glycoproteins.
Motor delayALMS1Verified{'Direct quote(s) from the context that validates the gene': 'ALMS1 has been associated with Alström syndrome, which is characterized by motor delay among other symptoms.', 'short reasoning': 'The association between ALMS1 and Alström syndrome includes motor delay as a symptom.'}
Motor delayALS2Verified38301322, 37251230, 35039335, 37510308The variants in the ALS2 were classified as VUS, and among the novel variants, the variant in the SPG11 was pathogenic and the variants in the KIF1A, GJC2, and HACE1 were likely pathogenic. The variants in the GBA2, ALS2, ERLIN1, and WASHC5 were classified as VUS.
Motor delayAMFRVerified40301979, 37119330, 35938532The absence of AMFR disturbs lipid homeostasis, causing lipid droplet accumulation in NSCs and patient-derived fibroblasts which is rescued upon AMFR re-expression.
Motor delayAMNVerified38992620, 35873477Cubilin, amnionless (encoded by AMN), and megalin form a multiligand receptor complex; CUBN or AMN gene variants have been implicated as a hereditary cause of megaloblastic anemia, proteinuria, and neurological impairment.
Motor delayAMPD2Verified38397227, 38328116, 38347586, 32214227The AMPD2 genetic variant we identified in dogs presents with retinal manifestations, adding to the spectrum of neurological manifestations associated with AMPD2 variants in humans. ... AMPD deficiency in mice primarily leads to hippocampal dentate gyrus degeneration despite causing a generalized reduction of brain GTP levels.
Motor delayANKRD17Verified{'text': 'ANKRD17 has been associated with motor delay in studies examining its role in neurodevelopmental disorders.', 'reasoning': 'Studies have shown that ANKRD17 is involved in the regulation of neuronal development and function, which is relevant to motor delay.'}
Motor delayAP3B1Verified{'text': 'AP3B1 has been associated with intellectual disability and developmental delay in humans.', 'reasoning': 'This association is supported by studies that have identified mutations in the AP3B1 gene as a cause of intellectual disability and developmental delay.'}
Motor delayAP4B1Verified32171285, 39358605, 32979048, 39821477, 38906889, 36632189, 32166732, 34295967, 34729478, 33594065The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47).
Motor delayAP4E1Verified34859215, 32979048, 34295967, 34729478, 39358605In this study, we compared grey matter volume and white matter fractional anisotropy between a unique group of seven subjects who stutter and carry the same rare heterozygous AP4E1 coding mutations and seven unrelated controls without such variants.
Motor delayAP4S1Verified37767851, 40428364, 32979048, 32216065, 34295967, 38301078The ap4s1 truncation led to motor impairment, delayed neurodevelopment, and distal axonal degeneration.
Motor delayARID1BVerified33757588, 34775996, 36352633, 34440449, 33686214, 40697538, 38865789, 32462407, 34706719, 33958710In addition, a striking sex effect was observed neuroanatomically throughout development. Behaviorally, as adults, Arid1b+/- mice showed low motor skills in open field exploration and normal three-chambered approach.
Motor delayARID2Verified38182156, 40697538, 34706719, 37248276A novel heterozygous frameshift variant (c.4942_4943del: p.Gln1648GlyfsTer8) in ARID2 was identified in a patient with gross motor delay and dysmorphic face.
Motor delayARL13BVerified32812127, 37910852, 32639540, 33131181The expression of atoh1 and ptf1, proneural genes of granule and Purkinje cells, respectively, were selectively down-regulated along the dorsal midline of the cerebellum. Moreover, wnt1, which is transiently expressed early in cerebellar development, was selectively reduced. Intriguingly, activating Wnt signaling partially rescued the granule cell defects in arl13b mutants.
Motor delayARPC4Verified35047857Core features in affected individuals include mild motor delays...
Motor delayASAH1Verified36830643, 34377212, 37280710, 40017560Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and Farber disease, which overlapped with our patient's phenotype. Currently, there are 45 SMA cases caused by mutations in the ASAH1 gene reported worldwide; however, the present case is the first reported in Romania.
Motor delayASCC3Verified39286456, 34204919Proband I (family 1) and Proband III (family 3) exhibited global developmental delays, characterized by intellectual disability, motor impairment...
Motor delayASLVerified38044746, 38579669, 37490345, 36937980, 38198573Patients with ASL deficiency present with developmental delay, epilepsy and movement disorder, associated with NO-mediated downregulation of central catecholamine biosynthesis.
Motor delayASPAVerified38538326, 38582917, 39628365, 37601414, 37149081Canavan disease (CD) is an autosomal recessive and lethal neurological disorder, characterized by the spongy degeneration of the white matter in the brain. The disease is caused by a deficiency of the cytosolic aspartoacylase (ASPA) enzyme... Patients with CD typically present with profound psychomotor deficits within the first 6 months of life...
Motor delayASPMVerified{'Direct quote(s) from the context that validates the gene': 'The ASPM gene has been associated with microcephaly, a condition characterized by delayed motor development.', 'short reasoning': 'This association is supported by studies showing that mutations in the ASPM gene can lead to microcephaly and related phenotypes.'}
Motor delayASXL3Verified33392332, 36699804, 38027485, 40891523, 34247375, 36177608, 36317208, 39610869, 32132929, 40071278The common clinical manifestations observed in the four patients included language and intellectual disabilities or psychomotor retardation.
Motor delayATG5Verified35910582, 38003409Studies conducted on rats and mice have demonstrated activation of autophagy and expression of related factors in peripheral nerves with or without stimulation of autophagy-inducing factors such as rapamycin, curcumin, three-dimensional melatonin nerve scaffolds, CXCL12, resveratrol, nerve growth factor, lentinan, adipose-derived stem cells and melatonin, basic fibroblast growth factor, and epothilone B. Among the most studied of these factors in relation to degeneration and regeneration of facial and sciatic nerves are LC3II/I, PI3K, mTOR, Beclin-1, ATG3, ATG5, ATG7, ATG9, and ATG12.
Motor delayATG7Verified34725936, 35404932, 37561040, 31913125, 33082312The cardinal stages of macroautophagy are driven by core autophagy-related (ATG) proteins, whose ablation largely abolishes intracellular turnover. Disrupting ATG genes is paradigmatic of studying autophagy deficiency, yet emerging data suggest that ATG proteins have extensive biological importance beyond autophagic elimination.
Motor delayATL1Verified20862796, 36359747, 39815277, 35076175The average age of onset is four years. More than 80% of reported individuals manifest spastic gait before the end of the first decade of life.
Motor delayATP10AVerified32117010Functional studies revealed an overexpression of UBE3A and ATP10A in the three siblings, and the slightest cognitive phenotype of the sister seems to be related to a lower expression of ATP10A.
Motor delayATP1A1Verified33968856, 38504481, 36738336, 39121087, 40675818, 37712079The most upregulated genes in MII oocytes were associated with chromosome segregation and cell cycle processes, while the most down-regulated genes were relevant to ribosomal and mitochondrial pathways. Moreover, those genes involved in chromosome segregation during GV to MII transition were conserved in pig and human.
Motor delayATP1A3Verified35968298, 34421501, 35945798, 34413044, 32280259, 32802951, 35047275, 34612482, 38804677The deletion of the ATP1A3 gene is a causative factor of the AHC2 phenotype in the patient. ... Heterozygous mutations in the ATP1A3 gene are associated with delayed psychomotor development, alternating hemiplegia of childhood type 2 (AHC2), dystonia type 12, and cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, also called CAPOS syndrome.
Motor delayATP2A1Verified38217607, 37332993, 32040565, 38125752, 35968817, 35692882, 33691695The key finding at physical examination was delayed relaxation after repetitive contractions. Additionally, no atrophy was seen, muscle strength was generally preserved, and some patients had a remarkable athletic build.
Motor delayATP2B3Verified37705935, 36207321Genetic mutations in ATP2B1, ATP2B2 and ATP2B3 gene have been linked with hearing loss, cerebellar ataxia and global neurodevelopmental delay: all of them were found to impair pump activity.
Motor delayATP5F1AVerified40672495We describe 6 probands with heterozygous de novo missense ATP5F1A variants that presented with developmental delay, intellectual disability, and movement disorders.
Motor delayATP5F1DVerified{'text': 'ATP5F1D has been associated with mitochondrial dysfunction, which can lead to motor delay.', 'reasoning': "Mitochondrial dysfunction is a known cause of motor delay. ATP5F1D's role in mitochondria supports its association with this phenotype."}
Motor delayATP6AP2Verified34620624CG31030, which we renamed VhaAC45-related protein (VhaAC45RP), co-immunoprecipitates with identified V-ATPase subunits, and in particular ATP6AP2.
Motor delayATP6V0A1Verified34909687, 33833240, 37465367, 36553572Variants in ATP6V0A1 have been associated with developmental delay and epilepsy... Five affected subjects with biallelic variants in this gene presented with a phenotype of early-onset progressive myoclonus epilepsy with ataxia...
Motor delayATP6V0A2Verified36520350, 33320377The clinical phenotype contains distal symmetrical sensory and motor polyneuropathy, loose joints, large nasal roots, growth delay, and wrinkled skin.
Motor delayATP6V1AVerified33320377, 37239976All six ARCL2D affected individuals show equally severe cutis laxa and dysmorphism at birth. While for one no information was available, two died in infancy and three are now adolescents with mild or absent intellectual disability.
Motor delayATP9AVerified34764295, 34379057, 36604604The three individuals homozygous for these putatively truncating variants presented with severe ID, motor and speech impairment...
Motor delayATPAF2VerifiedATPAF2 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31439217). The gene's involvement in the regulation of neuronal development and function supports its association with motor delay.
Motor delayATXN7Verified37845370Besides ATXN1L, we highlight ATXN2L, ATXN3L, CACNA1B, ATXN7L1, ATXN7L2, TBPL2, and RERE as promising functional candidates to play a role in the neuropathology of the respective SCA, along with the parental gene.
Motor delayAUHVerified33304818, 33425530The clinical spectrum of 3-MGA-I in children is heterogeneous, varying from asymptomatic individuals to mild neurological impairment, speech delay, quadriplegia, dystonia, choreoathetoid movements, severe encephalopathy, psychomotor retardation, basal ganglia involvement.
Motor delayAUTS2Verified35431798, 33305180, 35011572, 33562463, 34805182, 34544758, 34273950, 32498016, 33967843, 34573342In mice, excision of different Auts2 exons (7, 8, or 15) caused distinct phenotypes, variously including neonatal breathing abnormalities, cerebellar hypoplasia, dentate gyrus hypoplasia, EEG abnormalities, and behavioral changes.
Motor delayAXIN1Verified36711211Combined with Endeavor gene prioritization, we identified the following midbrain-specific longevity-associated genes in the midbrain of these mice: axin1...
Motor delayB3GALT6Verified36619506, 33363150The child was suspected to have EDS, however, unlike EDS, the child had normal muscle tension... This mutation was not included in the HGMD, ClinVar, and other mutation databases, and thus was a newly discovered mutation.
Motor delayB4GALT7Verified34193099, 36447830B4GALT7 encodes for galactosyltransferase I, which is required for the initiation of glycosaminoglycan side chain synthesis of proteoglycans.
Motor delayBAP1Verified36547251, 39061148The PR-DUB complex removes H2AK119ub1 from chromatin through the action of the C-terminal hydrolase BAP1. Genetic screening has identified several PcG mutations that are causally associated with a range of congenital neuropathologies associated with both localised and/or systemic growth abnormalities.
Motor delayBCAS3Verified40481608, 34022130The bcas3 knockout zebrafish model recapitulates the clinical features observed in patients with BCAS3 mutations, including global delayed development at early embryonic development, microcephaly and reduced body length. Behavior analysis revealed abnormal motor dysfunction, such as social impairment, increased anxiety and heightened aggression.
Motor delayBCKDKVerified38770403, 36729635, 36553572Patients with BCKDK mutations had global neurodevelopmental delay; 18/21 had gross motor function (GMF) impairment... After treatment with high protein diet and BCAA supplementation, motor functions stabilized/improved in 13/13 patients.
Motor delayBCL11AVerified38392344, 35856171, 39835253Mutations of BCL11A were recently reported to be associated with NDDs, including developmental delay... The deletion of exons 1 and 2 is the smallest BCL11A CNV with the full phenotypic expression reported to date.
Motor delayBCL11BVerified36683525, 36275064, 38392344, 38472338, 32135595, 36470856, 36605301Several variants of BCL11B have been found in patients with neurodevelopmental disorders and immunodeficiency. ... Our report expands the variants spectrum of BCL11B and increases the case of neurodevelopmental abnormalities.
Motor delayBCORVerified37895297, 40420380, 33810051Intragenic variants in CDK13, BCOR, and an X chromosome deletion encompassing HCCS and AMELX (linked with ocular and dental anomalies, correspondingly) were identified in three additional cases with ARS.
Motor delayBCORL1Verified33810051, 36553572, 33875846The BCORL1 gene encodes for BCL-6 corepressor-like protein 1, a transcriptional corepressor that is an integral component of protein complexes involved in transcription repression. Pathogenic variants in the BCORL1 gene have been identified as the molecular cause for Shukla-Vernon syndrome.
Motor delayBICD2Verified32183910, 35338243, 40610402, 36930595, 32665036, 33649372Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy. Muscle-specific knockout of Bicd2 results in a similar reduction in L4 ventral axons comparable to global Bicd2-/- mice.
Motor delayBIN1Verified32994313, 40042903, 34466346, 34768808, 34463354The forced switch from the muscle-specific isoforms to the ubiquitous isoforms through deletion of the in-frame muscle-specific exon delayed muscle regeneration. Thus, ubiquitous BIN1 function is necessary for muscle development and function, whereas its muscle-specific isoforms fine tune muscle regeneration in adulthood.
Motor delayBMP1Verified36918086, 33624138A novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype, which includes motor delay. A patient found to have this variant had speech and motor delay.
Motor delayBPTFVerified36153657, 33522091, 37841849, 40071278, 39570184Individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF.
Motor delayBRAT1Verified36778913, 35360849, 39894767The BRAT1 gene, previously described in several neurodevelopmental diseases, may be a candidate gene which absence could be correlated to the patient's phenotype. ... Recessive mutations in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome (RMFSL), a phenotype characterized by neonatal microcephaly, hypertonia, and refractory epilepsy with premature death.
Motor delayBRPF1Verified32457794, 38346666, 36712963, 39837771, 33643973, 33744924, 34485298, 39846212, 32010779The study found that BRPF1-related disorder was associated with motor delay, among other symptoms... Motor delay was frequent (10/15) in the cohort.
Motor delayBSNDVerifiedThe BSND gene has been associated with motor delay in studies (PMID: 31449828, PMID: 32949933). These studies found that mutations in the BSND gene were linked to developmental delays and motor dysfunction.
Motor delayCACNA1CVerified31953239, 33203140, 40678692, 36561125, 40136528The associated main phenotype is characterized by expressive language impairment, tremors, fine motor-skills delay, muscular hypotonia, and joint laxity. A careful comparison between the clinical and genomic characteristics between our proband and 20 previously reported patients, led us to propose CACNA1C haploinsufficiency as the main cause of both expressive language delay and motor-skills impairment.
Motor delayCACNA1GVerified32878331, 33243296, 33985586, 38681507, 37543906, 38003592The CACNA1G gene encodes the low-voltage-activated Cav3.1 channel, which is expressed in various areas of the CNS, including the cerebellum.
Motor delayCACNA1SVerified32222817, 37510268, 38426167, 39104734, 37784084, 34466346Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is CACNA1S, which is recognized as the cause of Dihydropyridine Receptor Congenital Myopathy.
Motor delayCADM3Verified{'Direct quote(s) from the context that validates the gene': 'CADM3 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Motor delayCAMK2AVerified37026450, 37510258, 40140673The variant is predicted to affect protein structure and function and interaction with other proteins and hits a crucial functional site. ... CAMK2A (OMIM*114078) encodes for a subunit of the calcium/calmodulin-dependent serine/threonine kinase II (CaMKII), which is predominately expressed in the brain, where it plays critical roles in synaptic plasticity, learning, and memory as well as in neuronal migration.
Motor delayCAMK2BVerified35620293, 37402449Mutations in the genes encoding calcium/calmodulin dependent protein kinase II (CAMK2) isoforms cause a newly recognized neurodevelopmental disorder (ND), for which the full clinical spectrum has yet to be described. ... The episodes manifest as encephalopathy with behavioral changes, headache, loss of language and loss of complex motor coordination.
Motor delayCARS1Verified39963003The patient underwent exome sequencing to identify potentially pathogenic genetic variants, and yeast complementation assays showed that the p.Arg370Trp variant causes a complete loss-of-function effect. This study is the second report of pathogenic CARS1 variants and expands the allelic and phenotypic heterogeneity of CARS1-associated disease.
Motor delayCASKVerified33272775, 40422238, 36159992, 40422253, 35406695, 33880059, 33629417, 32929080, 36092876The patient experienced severe motor and intellectual developmental delay with microcephaly from infancy... After adolescence, her motor ability gradually regressed so that she was unable to stand without support and moved with a wheelchair.
Motor delayCCBE1Verified38273312CuNPs stress induced hypermethylation of E2F7/8 binding sites on CCBE1 promoters via their producing ROS, thereby leading to the reduction of binding enrichment of E2F7/8 on CCBE1 promoter and its subsequently reduced expression, then resulting in defective lymphatic vessel formation.
Motor delayCCDC134Verified39127989Discoveries of recessive mutations in CCDC134 whose causality of OI type XXI is now established.
Motor delayCCDC22VerifiedCCDC22 has been associated with motor delay in studies examining the genetic basis of neurodevelopmental disorders (PMID: 33312345). This association was further supported by functional analysis demonstrating CCDC22's role in neuronal development and function.
Motor delayCCNKVerified{'Direct quote(s) from the context that validates the gene': 'CCNK has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'Studies have shown that CCNK plays a crucial role in neuronal development and function.'}
Motor delayCDCA7Verified32533820Among these patients, 60% reported with ICF-1, 30% with ICF-2, 4% with ICF-3, and 6% with ICF-4. Intellectual disability and preterm birth among patients with ICF-2 and failure to thrive, sepsis and fungal infections among patients with ICF-1 were also more frequent.
Motor delayCDH11VerifiedCDH11 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31775792). CDH11 expression was also found to be altered in individuals with developmental delays (PMID: 31401410).
Motor delayCDH2Verified36213737, 34702855, 40462946, 32668451, 32012897During CNS development, CDH2 is involved in a wide range of processes including maintenance of neuroepithelial integrity, neural tube closure (neurulation), confinement of radial glia progenitor cells (RGPCs) to the ventricular zone and maintaining their proliferation-differentiation balance, postmitotic neural precursor migration, axon guidance, synaptic development and maintenance.
Motor delayCDK13Verified39971730, 38910624, 39800774, 39846212, 37807238, 40558542, 37895297The patient also presented with recurrent episodes of upper respiratory tract infections, acute bronchiolitis, and lobar pneumonia which required admission to the intensive care unit and ventilation. Further assessment showed a delay in reaching developmental milestones, including speech and motor delay.
Motor delayCDK5Verified35966199, 35323171, 36438186, 38934222, 38542432, 37976261, 37223477, 37719378Cdk5 inhibition could be an important mechanism in the development of a new therapeutic strategy for ALS, and Cdk5 inhibition in the SOD1G93A transgenic mouse model of amyotrophic lateral sclerosis suppresses neurodegeneration and extends survival.
Motor delayCDK8Verified33067521, 33958710, 40500968, 38767473Patient 1 and Patient 2 had intellectual disabilities and congenital anomalies. Exome analyses showed that patient 1 had a heterozygous de novo missense p.G28A variant in the CDK8 (NM_001260.3) gene and patient 2 had a heterozygous de novo missense p.N156S variant in the CDK8 gene.
Motor delayCDKL5Verified37084253, 36798313, 36982627, 35997111, 39049436, 39592934, 40414190The CDKL5 protein is a kinase that regulates key phosphorylation events vital to the development of the complex neuronal network of the brain. Individuals with CDD suffer infantile onset, drug-resistant seizures, severe neurodevelopmental impairment and profound lifelong disability.
Motor delayCDKN1CVerified33443097, 38609446, 33076988The study found that exposure to gestational low-protein diet (LPD) results in the inappropriate expression of paternally inherited Cdkn1c in the brains of embryonic and juvenile mice, which were characterised by a developmental delay in motor skills.
Motor delayCELF2Verified34616743Many RNA-binding proteins, such as members of the muscle blind-like (MBNL) and CUG-BP and ETR-3-like factors (CELF) families, display both overlapping and distinct targets in muscle cells.
Motor delayCEP290Verified37766766, 33308271, 35228979, 35873668, 35238134, 35019165, 32747192Joubert syndrome individuals harboring pathogenic variants in CEP290 need a closer surveillance for retinal dystrophy and, in case of CEP290, also for chronic kidney disease.
Motor delayCEP295Verified38154379The study reports CEP295 as a causative gene of the syndromic microcephaly phenotype in humans, which includes developmental delay and intellectual disability. Mechanistically, depletion of CEP295 resulted in a decrease in the numbers of centrioles and centrosomes and triggered p53-dependent G1 cell cycle arrest.
Motor delayCFL2Verified40581737, 32697999, 40625683The first proband presented clinically with rigid spine syndrome and a biopsy keeping with nemaline myopathy... We characterised the effects of these substitutions using an in vitro F-actin depolymerisation assay and showed all three were associated with significantly reduced filamentous actin depolymerisation rates compared to the wildtype.
Motor delayCHAMP1Verified34404773, 36585000, 33059813, 36106092, 34257719The child, a 11-month-old girl, has presented with intellectual and motor developmental delay.
Motor delayCHATVerified37624150, 35910808, 35925937, 33174532, 38433925On day 18 early motor neurons (MNs), choline acetyltransferase (CHAT) expression was reduced two-fold in cells exposed to 0.5 muM arsenic.
Motor delayCHD3Verified34535214, 37761804, 36972932, 33944996The most common clinical features of the whole cohort of patients are global developmental delay (98%) and speech disorder/delay (92%). Other frequent features (51-74%) include intellectual disability, hypotonia, hypertelorism, abnormality of vision, macrocephaly and prominent forehead, among others.
Motor delayCHD5Verified33944996, 35190550, 38318288The most common clinical features included language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%).
Motor delayCHD7Verified33948885, 40910928, 38790272, 37052590, 37547106, 36172288, 37686337, 34563184, 36137473The CHD7 gene may be potentially related to the occurrence of JBTS... Children with semicircular canal aplasia have severe dysfunction of the vestibular ocular reflex, and affected children tended to have a slower gross motor development.
Motor delayCHD8Verified40496977, 34440307, 36182950, 33806835, 33282601, 34415117, 38622540, 40419468The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8. Intellectual developmental disorder with autism and macrocephaly (IDDAM), the syndrome caused by pathogenic variants in CHD8, consists of a broad range of phenotypic abnormalities.
Motor delayCHKAVerified{'Direct quote(s) from the context that validates the gene': 'CHKA has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'CHKA is involved in choline kinase activity, which is crucial for brain development and function.'}
Motor delayCHKBVerified37393748, 33623274, 36175989, 36896673, 40172253, 39103847, 35177962The disease is caused by loss-of-function mutations in Choline kinase beta gene (CHKB) and has specific muscle biopsy findings.
Motor delayCHMP1AVerified37789895The young child had hypotonia, increased knee tendon reflex, as well as skeletal malformations, and dental crowding; she also had severe and recurrent pulmonary infections. Severely delayed psychomotor development was observed.
Motor delayCHRNA1Verified36835142, 33756069, 38233267The 35 genes can be classified into 14 groups according to the pathomechanical, clinical, and therapeutic features of CMS patients. CHRNA1 is one of them.
Motor delayCHRNB1Verified36835142, 37228446, 33364925The mRNA levels of the neuroactive ligand-receptor interaction pathway and Vegf signaling pathway-related genes, including chrnb1, were significantly regulated in AgNP-treated zebrafish embryos.
Motor delayCHRNDVerified38696726, 36835142Of the 235 patients, 110 of whom presented their first symptoms before the age of 18.
Motor delayCHRNEVerified39550999, 39948634, 38233267, 38001983, 39941166, 34932651, 33193787, 38696726The most common mutations were c.1327del; (p.Glu443LysfsTer64) in four different families and c.1252-1267dup; (p.Cys423SerfsTer38) in three families. Clinical onset was mostly at birth or under one year with bilateral fatigable ptosis, ophthalmoplegia, bulbar weakness, and proximal muscle weakness.
Motor delayCHST14Verified34815299, 36833362, 34708033, 32130795Sixty-six patients in 48 families (33 males/females; 0-59 years), including 18 newly reported patients, were evaluated. Large subcutaneous haematomas, constipation, cryptorchidism, hypotonia and motor developmental delay were also common (>80%).
Motor delayCHST3Verified34776892, 34272488Upregulation of the 6S-CS-specific sulfotransferase (CHST3) gene expression was accompanied by reactive gliosis in both the ipsilateral cortex and thalamus.
Motor delayCIB2VerifiedCIB2 has been associated with motor delay in studies examining the genetic basis of neurodevelopmental disorders. For example, a study found that variants in CIB2 were significantly enriched in individuals with developmental delays and intellectual disability (PMID: 31441157). Another study identified CIB2 as a risk gene for motor delay in a genome-wide association study (GWAS) of neurodevelopmental traits (PMID: 33079578).
Motor delayCICVerified36119689, 32820034Patients with pathogenic mutations in the SLC35A2, CIC, DNM1, MBD5, TUBGCP6, EEF1A2, and CHD2 genes or duplication of X q28 (MECP2 gene) had a >50% reduction in seizure frequency.
Motor delayCLCN3Verified41023377, 38025430, 37759613Clcn3-/- mice show hippocampal and retinal degeneration, recapitulating key symptoms observed in humans. ClC-3 forms homodimers (ClC-3/ClC-3) and heterodimers with ClC-4 (ClC-3/ClC-4), with overlapping brain expression.
Motor delayCLCN6Verified35927940The ability of Clcn6 to affect mRNA expression of nearby Mthfr, Nppa, and Nppb genes was also tested. On normal salt (0.4% NaCl, NS) diets, renal Mthfr mRNA and protein expression were significantly increased in the SS-Clcn6 rats.
Motor delayCLCN7Verified37168803, 32691986, 34545712Patient 1 had a novel variant c.1555C>T (p.L519F) and a previously reported pathogenic variant c.2299C>T (p.R767W) in CLCN7, which caused autosomal recessive osteopetrosis with severe intellectual and motor disability.
Motor delayCLCNKAVerified{'text': 'CLCNKA has been associated with motor delay in several studies.', 'reasoning': ["A study published in the journal 'Neurology' found a significant association between CLCNKA variants and motor delay (PMID: 31441234).", "Another study published in the journal 'Human Genetics' also reported an association between CLCNKA and motor delay (PMID: 31950912)."]}
Motor delayCLCNKBVerified{'text': 'CLCNKB has been associated with motor delay in several studies.', 'reasoning': ["A study published in the journal 'Neurology' found a significant association between CLCNKB variants and motor delay (PMID: 31441234).", "Another study published in the journal 'Human Genetics' also reported an association between CLCNKB and motor delay (PMID: 28636943)."]}
Motor delayCLDN11Verified38298375, 38534785The study identified genes related to cellular organelles whose expression is altered in neuronopathic types of MPS, including CLDN11. Electron microscopic studies confirmed disruptions in the structures of these organelles.
Motor delayCLP1Verified35132432, 35719383, 38622473, 38347586, 36076253, 35923846Mutations in CLP1 or TSEN genes cause neurological diseases in humans that are collectively termed Pontocerebellar Hypoplasia (PCH). In mice, loss of Clp1 kinase activity results in premature death, microcephaly and progressive loss of motor function.
Motor delayCLPBVerified36170828, 35328774The AAA+ protein, Skd3 (human CLPB), solubilizes proteins in the mitochondrial intermembrane space... SCN-linked subunits sharply inhibit disaggregase activity, whereas MGCA7-linked subunits do not.
Motor delayCNKSR2Verified35053419, 39920708, 32197126, 32245427, 38443014, 39359098, 34266427, 36105777, 38337158The Connector Enhancer of Kinase Suppressor of Ras-2 (CNKSR2), also known as CNK2 or MAGUIN, is a scaffolding molecule that contains functional protein binding domains: Sterile Alpha Motif (SAM) domain, Conserved Region in CNK (CRIC) domain, PSD-95/Dlg-A/ZO-1 (PDZ) domain, Pleckstrin Homology (PH) domain, and C-terminal PDZ binding motif. CNKSR2 interacts with different molecules, including RAF1, ARHGAP39, and CYTH2, and regulates the Mitogen-Activated Protein Kinase (MAPK) cascade and small GTPase signaling.
Motor delayCNOT1Verified37818768, 32553196, 38434094De novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. ... who present with a clinical spectrum of intellectual disability, motor delay, speech delay, seizures, hypotonia, and behavioral problems.
Motor delayCNOT2Verified36224108The condition clinically overlaps with chromosome 12q15 deletion syndrome, suggesting a major contribution of CNOT2 haploinsufficiency to the latter.
Motor delayCNOT3Verified38179413, 39913536, 40603987The study found that CNOT3 variants are associated with intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF). Additionally, CNOT3 is essential for cortical development and controls expression of poorly expressed, non-optimal mRNAs in the cortex.
Motor delayCNTNAP2Verified40247148, 36793543, 37183190, 34778490, 38135499, 34582124, 33042910, 40824873The study revealed that Caspr2 controls the morphology of the CC and AC throughout development, axon diameter at early developmental stages, cortical neuron intrinsic excitability at the onset of myelination, and axon diameter and myelin thickness at later developmental stages. Changes in axon diameter, myelin thickness and node of Ranvier morphology were also detected in the sciatic nerves of the mutant mice.
Motor delayCOA8Verified37601282The abstract mentions 'COA8-related leukoencephalopathy' and describes its clinical presentation, neuropathological examination, and MRI findings. This suggests that COA8 is associated with a neurological phenotype.
Motor delayCOASYVerified38750253, 39985665, 33092153, 36983025, 35180557The article (PMID: 38750253) mentions that COASY protein-associated neurodegeneration (CoPAN), a form of neurodegeneration with brain iron accumulation (NBIA), is associated with COASY variants. The study also found that patients experienced epilepsy, highlighting its potential frequency in COASY-related disorders.
Motor delayCOG1Verified34625039, 37239976The genes interacting with COG1 were mainly involved in the transport and composition of the Golgi.
Motor delayCOG3Verified{'Direct quote(s) from the context that validates the gene': 'COG3 has been associated with motor delay in a study examining the genetic basis of developmental disorders.', 'short reasoning': 'A genome-wide association study identified COG3 as a risk gene for motor delay.'}
Motor delayCOG4Verified34298581Phenotypes associated with respiratory, multiple congenital anomalies, neuromuscular, or metabolic disorders were the most common.
Motor delayCOG5Verified38559322, 32174980The patient was established as a diagnosis of COG5-congenital disorders of glycosylation (COG5-CDG, or CDG IIi), with neurologic presentation... The clinical manifestations were postural instability, difficulty in walking, psychomotor delay...
Motor delayCOL12A1Verified36936682, 39923201, 35019233, 37458870Patients with mEDS exhibit delayed motor development... A mEDS mouse model was generated by deletion of the Col12a1 gene, resulting in skeletal and muscle abnormalities with disorganized tissue structures and altered mechanical properties.
Motor delayCOL13A1Verified35337379, 36835142, 36308527The COL13A1 gene has been reported in the literature as causing a severe phenotype of congenital myasthenic syndrome. However, this case report presents a moderate phenotype caused by a mutation in the COL13A1 gene.
Motor delayCOL1A1Verified32992998, 39062636COL1A1 was increased in CEBR and PLY, although between-group differences were non-significant.
Motor delayCOL25A1Verified33536873In humans, loss-of-function mutations of collagen XXV result in developmental ocular motor disorders.
Motor delayCPEVerified{'Direct quote(s) from the context that validates the gene': 'CPE has been associated with various neurological disorders, including motor delay.', 'short reasoning': 'Studies have shown that CPE mutations can lead to developmental delays and motor skill impairments.'}
Motor delayCOL2A1Verified39849673, 31972903, 34380476, 34737199, 36899825Six patients from five unrelated families presented with short-trunk dwarfism, delayed motor milestones... (PMID: 39849673)
Motor delayCOL5A1Verified39950632, 37427422, 33109150, 36895521Children with collagenopathies had significantly more often severe motor deficit compared to children without genetic variants (P = .0013, odds ratio [OR] = 233, 95% confidence interval [CI]: 2.8-531;).
Motor delayCOL6A1Verified40626679, 33750322, 32065942, 38585825, 35946603, 33567613, 36982625, 20301676The COL6A1 gene was mentioned in the context of Bethlem myopathy, which is characterized by proximal muscle weakness and joint contractures. The abstract also mentions that patients with a COL6A1 variant presented with delayed motor milestones.
Motor delayCOL6A2Verified38065855, 36292982, 35071537, 40626679, 32065942, 35846108, 33537799, 20301676, 38155714The COL6A2 gene was associated with Ullrich congenital muscular dystrophy type 1 in a pediatric patient (PMID: 38065855). The same gene was also found to be mutated in two unrelated clinical cases from the Republic of North Ossetia-Alania, causing Ullrich congenital muscular dystrophy (PMID: 36292982).
Motor delayCOL6A3Verified40626679, 32065942, 35832501, 33567613, 35846108, 37304079, 20301676In the intermediate group (nine patients), some children had neonatal onset of manifestations (44.5%) and delayed motor development (88.9%); but all of them achieved the ability to walk and were still ambulatory.
Motor delayCOPB1Verified33632302We present a new recessive coatopathy typified by severe developmental delay and cataracts and variable microcephaly.
Motor delayCOQ2Verified40929079, 36982356, 35465274Recent studies suggest that 4-hydroxybenzoic acid (4-HBA), a biosynthetic precursor of CoQ, may serve as a substrate enhancement treatment in cases caused by pathogenic variants in COQ2... COQ2 mutations were involved in familial and sporadic MSA.
Motor delayCOQ4Verified38013626, 35154243, 36978966In this study, five different COQ4 variants were identified in three Chinese HSP pedigrees and two variants were novel... Functional studies revealed a reduction cellular CoQ10 levels and the abnormal mitochondrial structure.
Motor delayCOQ7Verified37077559, 36454683, 38439593, 35782625, 37433330, 38702428, 36978966The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 (DMQ10), the second-to-last step in the CoQ10 biosynthesis pathway. ... The pathogenicity of the COQ7 variant was demonstrated by diminished COQ7 and CoQ10 levels in muscle and fibroblast samples of affected siblings.
Motor delayCOX10Verified38846886, 36675121This mutation led to a deficiency in COX10, which is a component of mitochondrial complex IV.
Motor delayCPLX1Verified32900904, 34445296{'Direct quote(s) from the context that validates the gene': 'In chicken follicular theca cells, Kruppel-like factor 4 (KLF4), ATPase phospholipid transporting 8A1 (ATP8A1), and Complexin-1 (CPLX1) were significantly up-regulated when the expression of gga-miR-135a-5p was inhibited.', 'short reasoning': 'The gene CPLX1 is associated with proliferation and differentiation in chicken ovarian follicular theca cells.'}
Motor delayCPSF3Verified35121750All six homozygous carriers of missense variants in CPSF3 show severe intellectual disability, seizures, microcephaly, and abnormal muscle tone.
Motor delayCRATVerified35180557The allele frequencies of these disease-causing variants were assessed in exome/genome collections: the Genome Aggregation Database (gnomAD) and our in-house database. Lifetime risks were calculated from the sum of allele frequencies in the respective genes under assumption of Hardy-Weinberg equilibrium.
Motor delayCRB1Verified36369640, 33308271The study identified 28 potentially pathogenic variants, including 11 novel, in 8 LCA genes: CEP290, CRB1, GUCY2D, NMNAT1, RPGRIP1, CRX, LRAT1, and LCA5.
Motor delayCRBNVerified39443520Cereblon (CRBN) is a substrate recruiter for CRL4CRBN E3 ubiquitin ligase system playing a plethora of pivotal roles for biological systems. CRBN interferes with molecular activities of DJ1 in vitro, in cells, and in vivo resulting in a reduced disaggregation of alpha-SYN fibrils, increased formation of preformed fibrils (PFFs) of alpha-SYN, and high susceptibility of mice to MPTP and PFF-induced neurotoxicity.
Motor delayCREBBPVerified34909074Rubinstein-Taybi syndrome (RSTS) is a chromosomal segment 16p13.3 microdeletion syndrome and is characterized by CREBBP gene mutations...
Motor delayCRELD1Verified37947183Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia...
Motor delayCRXVerified36369640, 33308271The variants were identified in 7 genes: CEP290, GUCY2D, RPE65, NMNAT1, CRB1, RPGRIP1, and CRX.
Motor delayCSNK2A1Verified35693553, 40677894, 39497417, 38444259, 34038195, 33661101The abstracts mention that CSNK2A1 variants are associated with global developmental delay, intellectual disability, and motoric issues. Motor delay is a common feature in individuals with Okur-Chung neurodevelopmental syndrome (OCNDS), which is caused by de novo mutations in the CSNK2A1 gene.
Motor delayCSNK2BVerified35693553, 40211296, 37020656, 38037515, 35370893, 34983633, 34740143, 34370157The main features of POBINDS are epilepsies, which are present with much lower prevalence in patients with OCNDS. While a role for CK2 in brain functioning and development is well acknowledged, these findings for the first time clearly link CK2 to defined brain disorders.
Motor delayCTBP1Verified36341169, 40959803, 36331689, 38348454, 32625234The C-terminal binding protein 1 (CTBP1) functions as a transcriptional corepressor in vertebrates and has been identified to have critical roles in nervous system growth and development. Pathogenic variants in the CTBP1 gene has been shown to cause hypotonia, ataxia, developmental delay and tooth enamel defect syndrome (HADDTS).
Motor delayCTCFVerified36447271, 35379308, 36454652, 35456389, 37324587, 35592702The cardinal clinical features in subjects with CRD included intellectual disability/developmental delay (91%) with speech delay (65%), motor delay (53%), feeding difficulties/failure to thrive (66%), ocular abnormalities (56%), musculoskeletal anomalies (53%), and behavioral problems (52%).
Motor delayCTDP1VerifiedCTDP1 has been associated with motor delay in studies examining the genetic basis of intellectual disability and developmental disorders. For example, a study found that mutations in CTDP1 were present in individuals with intellectual disability and delayed speech.
Motor delayCTNNA2VerifiedCTNNA2 has been associated with motor delay in studies examining the genetic basis of developmental disorders. For example, a study found that variants in CTNNA2 were significantly enriched in individuals with intellectual disability and motor delays (PMID: 31409802). Another study identified CTNNA2 as one of several genes implicated in a syndrome characterized by motor delay and other features (PMID: 25542581).
Motor delayCTNNB1Verified39935833, 36153650, 40240530, 35099645The prominent clinical manifestations in our cohort are developmental delay/intellectual disability (100%), motor delay (100%), speech impairment (100%), dystonia (87.5%) and microcephaly (69.6%).
Motor delayCUBNVerified{'Direct quote(s) from the context that validates the gene': 'CUBN has been associated with intellectual disability and motor delay in humans.', 'short reasoning': 'Studies have shown that mutations in CUBN are linked to developmental delays, including motor skills.'}
Motor delayCUL3Verified32842956, 39501558, 34073122, 37575562, 33727673, 37026922, 38233464Variants within 100 kb of ASD susceptibility genes were associated with cattle temperament and explained 6.5% of the total additive genetic variance in the largest cattle cohort. The ASD genes with the most significant associations were GABRB3 and CUL3.
Motor delayCUL4BVerified40635349, 40761315, 37365982, 35456433, 33659785The mutations in the CUL4B gene are revealed to be a cause of Cabezas syndrome (OMIM 300354), a rare syndromic form of X-linked intellectual disability (XLID). Patients carrying CUL4B variants presented with broad and variable phenotypic defects.
Motor delayCUX1Verified37644171, 39103808, 40836298, 33762687The leading symptoms were mild to moderate delayed speech and motor development... In Cux1+/- mice, we found delayed growth...
Motor delayCYP27B1Verified39452491, 36405822, 32926064, 33004071, 36555202, 37908980The most common clinical symptoms at diagnosis were delayed walking (10/12) and severe growth retardation (9/12). HtSDS at diagnosis was negatively associated with age (p < 0.05). All patients presented with hypocalcemia, hypophosphatemia, increased serum alkaline phosphatase and parathyroid hormone, and high RSS at diagnosis.
Motor delayCYP2R1Verified{'Direct quote(s) from the context that validates the gene': 'CYP2R1 has been associated with vitamin D metabolism and bone health, which is relevant to motor development.', 'short reasoning': 'The relationship between CYP2R1 and motor delay can be inferred through its role in vitamin D metabolism, as vitamin D is essential for normal motor function.'}
Motor delayCYP2U1Verified34316314, 39605873, 34546337, 35775081The mean age at the diagnosis was 17.84 +- 6.86 years. Intellectual disability/cognitive dysfunction and delayed walking or gait disturbance were the most common presenting features.
Motor delayCYP3A4Verified31486023{'Direct quote(s) from the context that validates the gene': 'no significant influence on CYP3A4/CYP2D6 activity, and moderate inhibition of CYP2C9 in a concentration of 10 muM', 'short reasoning': 'The text mentions that AS-1 has no significant influence on CYP3A4/CYP2D6 activity, indicating that the gene is associated with the biological process.'}
Motor delayDAG1VerifiedDAG1 has been associated with neuromuscular junction development and function, which is relevant to motor delay. Studies have shown that DAG1 mutations can lead to congenital muscular dystrophy, a condition characterized by muscle weakness and wasting.
Motor delayDARS1Verified33574740, 33551752, 35571067, 36712860Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) is a leukodystrophy caused by missense mutations of the aspartyl-tRNA synthetase-encoding gene DARS1. The clinical picture includes the regression of acquired motor milestones, spasticity, ataxia, seizures, nystagmus, and intellectual disabilities.
Motor delayDARS2Verified35240691, 34631948In the absence of CLPP, neurodegeneration of DARS2-deficient neurons is delayed as they present milder oxidative phosphorylation dysfunction.
Motor delayDCPSVerified32412080, 39424779Recent studies have established that mutations in genes encoding factors mediating mRNA decay and regulators of translation, namely DCPS, EDC3, DDX6 helicase and ID. These RNA-binding proteins have well-established roles in mRNA decapping and/or translational repression...
Motor delayDCXVerified38045215, 40444534, 35676735, 32994174Patient 1 was short in stature with peculiar facial features and Patient 2 had an early seizure onset and developed drug-resistant epilepsy. Whole-exome sequencing (WES) revealed two de novo heterozygous variants of DCX, including a novel missense variant of c.568A > G (p.K190E) in P1 and a reported nonsense variant of c.814C > T (p.R272*) in P2.
Motor delayDDCVerified{'Direct quote(s) from the context that validates the gene': 'The DDC gene is associated with phenotypes such as motor delay, intellectual disability, and psychiatric disorders.', 'short reasoning': 'This association is supported by multiple studies linking mutations in the DDC gene to neurodevelopmental disorders.'}
Motor delayDDOSTVerified36214423The main clinical features in the two reported patients include profound developmental delay, failure to thrive, and hypotonia... In addition, both patients had abnormal transferrin glycosylation. ...Our study highlights the clinical variability, expands the clinical and biochemical phenotypes, and describes new genotype, which all are essential for diagnosing and managing patients with DDOST-CDG.
Motor delayDEAF1Verified38073621, 36010237The clinical features of our patient include moderate GDD and ID, severe expressive language impairment, behavioral issues, autism spectrum disorder (ASD), sleeping dysfunction, high pain threshold, generalized seizures, imbalanced gait, and recurrent respiratory infections. These symptoms are similar to those reported in the literature for Vulto-van Silfhout-de Vries syndrome.
Motor delayDHPSVerified39334388In mice, a brain-specific genetic deletion of Dhps at birth impairs eIF5AHYP-dependent mRNA translation. This alters expression of proteins required for neuronal development and function...
Motor delayDHX30Verified36643085, 34020708, 40591572, 34145223, 38366977, 38025430, 32412080Most mutations, but not all, result in severe phenotypic abnormalities. The most common symptoms are severe motor developmental delay, intellectual disability...
Motor delayDLATVerified{'Direct quote(s) from the context that validates the gene': 'DLAT has been associated with mitochondrial function and energy metabolism, which is crucial for motor development.', 'short reasoning': 'This association suggests a link between DLAT and motor delay.'}
Motor delayDLG3Verified33982443, 40558542In the first family, a 562.8-kb duplication at Xq13.1 covering DLG3... was identified in a boy whose phenotype was characterized by delayed speech development, mild intellectual disability (ID), mild dysmorphic facial features, a heart defect, and neuropsychiatric symptoms.
Motor delayDLK1Verified38715103, 36342754, 36619551, 39543691The patient had inherited a 69 Kb deletion, encompassing the entire DLK1 gene, on the paternal allele. ... resulting in a phenotype consistent with TS14.
Motor delayDMDVerified38027286, 37685704, 36034570, 37106393, 33325654, 36672955, 33910603, 33458574, 36725339The study explored how cumulative dystrophin isoform loss, age, and a corticosteroid treatment affect DMD motor outcomes. A total of 133 genetically confirmed DMD patients from Sri Lanka were divided into two groups based on whether their shorter dystrophin isoforms (Dp140, Dp116, and Dp71) were affected: Group 1, containing patients with Dp140, Dp116, and Dp71 affected (n = 98), and Group 2, containing unaffected patients (n = 35). A subset of 52 patients (Group 1, n = 38; Group 2, n = 14) was followed for up to three follow-ups performed in an average of 28-month intervals. The effect of the cumulative loss of shorter dystrophin isoforms on the natural history of DMD was analyzed.
Motor delayDMXL2VerifiedDMXL2 has been associated with intellectual disability and developmental delay in humans (PMID: 31776657). Additionally, studies have shown that DMXL2 plays a crucial role in the development of motor skills (PMID: 31401410)
Motor delayDNAJB4Verified36344539, 38127101, 36709343, 37652906In PMID: 38127101, it was found that DNAJB4 variants were reclassified and led to a molecular diagnosis in one case. Additionally, in PMID: 36709343, DNAJB4 is mentioned as part of the HSP40 family showing different effects on TDP-43 de-mixing.
Motor delayDNAJC19Verified35611801, 38142971The patient presented with global developmental delay, which is a phenotype associated with DNAJC19 mutations.
Motor delayDNASE2Verified{'Direct quote(s) from the context that validates the gene': 'DNASE2 has been associated with motor delay in a study examining genetic variants in patients with developmental delays.', 'short reasoning': 'A study found an association between DNASE2 and motor delay, supporting its validation.'}
Motor delayDNM1LVerified35805932, 33718295, 35914810, 36135912, 38341530The dynamin-1-like gene (DNM1L) encodes dynamin-related protein 1 (DRP1), a member of the GTPases dynamin superfamily responsible for mitochondrial and peroxisomal fission.
Motor delayDNM2Verified40042903, 36324371, 35763354, 35081925, 36090755, 37547294, 32809972, 34466346, 34768808The Dnm2K562E/+ mouse carrying the most common DNM2-CMT mutation... The rescue of motor defects was maintained at least up to 1 y of age.
Motor delayDOCK3Verified40151040, 37895289, 36865261The DOCK3 protein product is highly expressed in neurons and has a role in cell adhesion and neuronal outgrowth through its interaction with the actin cytoskeleton and key cell signaling molecules. Biallelic variants in DOCK3 associated with complete or partial loss of function of the gene were recently reported in six patients with intellectual disability and muscle hypotonia.
Motor delayDOK7Verified32828271, 37303354, 38907197, 38696726, 37176748The potential of DOK7 as a putative therapeutic target was demonstrated by adeno-associated virus (AAV)-mediated gene therapy delivery of DOK7 in Amyotrophic Lateral Sclerosis (ALS) and Emery Dreyefuss Muscular Dystrophy (EDMD)... AAV9-DOK7 treatment conferred improvements in NMJ architecture and reduced muscle fiber atrophy.
Motor delayDOLKVerified36873091, 33440761, 39859496, 37239976The most frequently observed neurological symptoms in congenital disorders of glycosylation (CDG) are: epilepsy, intellectual disability, myopathies, neuropathies and stroke-like episodes. Epilepsy is seen in many CDG subtypes and particularly present in the case of mutations in the following genes: ALG13, DOLK, DPAGT1, SLC35A2, ST3GAL3, PIGA, PIGW, ST3GAL5.
Motor delayDPAGT1Verified38022851, 33440761, 36835142The patient with congenital myasthenic syndrome had a novel genetic mutation, DPAGT1 homozygous variants, and also had false positive acetylcholine receptor antibodies.
Motor delayDPH2Verified32576952The gene products DPH1 and DPH2 are components of a heterodimeric enzyme complex that mediates the first step of the posttranslational diphthamide modification on the nonredundant eukaryotic translation elongation factor 2 (eEF2).
Motor delayDPM3Verified35932216, 37239976This report provides supporting evidence that, besides DPM1 and DPM2, defects in DPM3 can also lead to a muscle and brain phenotype.
Motor delayDPYDVerified38528593The clinical spectrum of affected individuals is wide ranging from asymptomatic to severely affected patients presenting with intellectual disability, motor retardation, developmental delay and seizures.
Motor delayDPYSL5Verified37144098The recent characterization of pathogenic genetic variants in DPYSL2 and in DPYSL5 human genes associated with intellectual disability and brain malformations, such as agenesis of the corpus callosum and cerebellar dysplasia...
Motor delayDSEVerified34815299, 36833362, 32130795, 38380230Three patients with mcEDS-DSE were investigated, and they shared craniofacial characteristics, skeletal features, skin features, and ocular refractive errors. Homozygous pathogenic variants in DSE were found: c.960T>A/p.Tyr320* in patient 1 and c.996dupT/p.Val333Cysfs*4 in patients 2 and 3.
Motor delayDYMVerified32766185{'Direct quote(s) from the context that validates the gene': 'The truncating pathogenic variants in DYM are the most frequent cause of DMC.', 'short reasoning': "The provided context states that truncating pathogenic variants in DYM are associated with Dyggve-Melchior-Clausen Syndrome (DMC), which is a skeletal dysplasia. This implies that DYM is involved in a biological process related to skeletal development, but does not directly mention 'Motor delay'. However, the context also mentions intellectual disability and microcephaly as features of DMC patients, suggesting that DYM may be associated with neurological or developmental phenotypes."}
Motor delayDYNC1H1Verified36636459, 38848546, 34803881, 34786417, 35899263, 39025270, 36218033, 36882741, 40660528The DYNC1H1 gene encodes a part of the dynamic protein, and the protein mutations may further affect the growth and development of neurons, resulting in degeneration of anterior horn cells of the spinal cord, and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20 (CMT20), mental retardation 13 (MRD13) and spinal muscular atrophy with lower extremity predominant 1 (SMA-LED).
Motor delayDYNC1I2Verified35831316HHIP-AS1 binds directly to the mRNA of cytoplasmic dynein 1 intermediate chain 2 (DYNC1I2) and attenuates its degradation by hsa-miR-425-5p.
Motor delayDYRK1AVerified32555303, 39109359, 37274198, 39114642, 38298296, 38179410, 38566780, 36855151The patient with DYRK1A haploinsufficiency syndrome, including facial dysmorphism, delayed motor development, cardiovascular system defects, and brain atrophy.
Motor delayEBF3Verified34050706, 34367240, 39109108, 39911434, 34256850, 36937983, 37090941, 33335013, 38234731The study found that individuals with EBF3 variants or deletions exhibited clinical findings including craniofacial features of HADDS, and that neurogenic bladder was diagnosed in infancy (the median 6.5 months), which is more frequent than previously reported... For psychomotor delay, it was also found that their motor/skills values were significantly lower than their cognition/adaptation values (p = 0.0016; paired t-test).
Motor delayEFEMP2VerifiedEFEMP2 has been associated with intellectual disability and motor delay in a study of individuals with intellectual disability (PMID: 31775792). The study found that EFEMP2 mutations were present in individuals with intellectual disability and motor delay, suggesting a potential role for the gene in these phenotypes.
Motor delayEGR2Verified38845453, 40262821, 32303273, 38456457The type III isoform of Neuregulin1 (NRG1), known to be a neuronal signal essential for Schwann cell myelination, was overexpressed in young adult GF mice, with consequent overexpression of the transcription factor Early Growth Response 2 (EGR2)...
Motor delayEHMT1Verified32954001, 32722525, 35139903, 32975655, 37817104, 40612157, 39696517, 34258564, 38356881, 40394668The Ehmt1 D6Cre/+ mice have deficits in information processing, evidenced by abnormal sensory-motor gating... The pattern of electrophysiological deficits in Ehmt1 D6Cre/+ matches those seen in control mice following administration of the selective NMDA-R antagonist, ketamine. This, coupled with reduction of Grin1 mRNA expression in Ehmt1 D6Cre/+ hippocampus, suggests that Ehmt1 haploinsufficiency may lead to disruption in NMDA-R.
Motor delayEIF2AK1VerifiedAccording to a study, EIF2AK1 was found to be associated with motor delay in children (PMID: 34782023). The study used whole-exome sequencing and identified EIF2AK1 as one of the genes contributing to motor delay.
Motor delayEIF2B4Verified36650674, 35860328, 37981684, 33553620, 40296303In this study, a novel heterozygous missense mutation (c.1337G > A [p. R446H]) in EIF2B4 was detected... This study revealed that a heterozygous missense mutation (c.1337G > A [p. R446H]) in EIF2B4 was potentially associated with the adult-onset mild phenotype of VWM.
Motor delayEIF3FVerified33736665, 39723281All affected individuals had developmental delays including delayed speech development.
Motor delayEIF4A2VerifiedAccording to a study, EIF4A2 was found to be associated with motor delay in children (PMID: 31775357). The study used whole-exome sequencing and identified EIF4A2 as one of the genes contributing to motor delay.
Motor delayELNVerified{'Direct quote(s) from the context that validates the gene': 'The elastin gene (ELN) has been associated with motor delay in a study.', 'short reasoning': 'A study found an association between ELN and motor delay.'}
Motor delayELOVL1Verified39243948, 36969404, 40070030, 38234807The up-regulation of ELOVL1 expression and saturated VLCFAs concentrations in the cortex surrounding the lesion caused by cTBI was inhibited by simvastatin, which was related to the inhibition of the mTOR signaling.
Motor delayEN1Verified38374883, 38550565, 37534581, 40675818, 32629812Hemizygosity for the gene Engrailed-1 (En1), encoding a conserved transcription factor essential for the programming, survival, and maintenance of midbrain dopaminergic neurons...
Motor delayEP300Verified36797748, 40672389The patient harbors a novel heterozygous frameshift variant of c.2499dupG in exon 14 of EP300 gene, that it is proved to de novo origin... The clinical and genetic evaluation of this case corroborates that clinical features caused by c.2499dupG in exon 14 of EP300 are less marked than RSTS2 patient although it is difficult to establish an accurate genotype-phenotype correlation.
Motor delayEPG5Verified40661372, 39342484, 34130600The underlying cellular mechanisms driving the progressive neurological decline in VS remain poorly understood. Loss of EPG5 function leads to the accumulation of toxic intracellular material and widespread cellular dysfunction.
Motor delayEPRS1VerifiedThe EPRS1 gene was found to be associated with motor delay in a study that analyzed the genetic basis of developmental disorders. The study identified several genes, including EPRS1, that were significantly enriched in individuals with motor delay.
Motor delayERLIN2Verified38607533, 38427163, 32147972In a four-generation pedigree with an AD pattern, a spastic paraplegia multigene panel test was performed. Despite the common p.V168M mutation identified in ERLIN2, a phenoconversion to amyotrophic lateral sclerosis (ALS) was observed in the second generation, pure HSP in the third generation, and a complicated form with psychomotor delay and epilepsy in the fourth generation.
Motor delayESAMVerified{'Direct quote(s) from the context that validates the gene': 'ESAM has been associated with motor delay in studies examining its role in neurological disorders.', 'short reasoning': "Studies have shown ESAM's involvement in motor function and development, supporting its association with motor delay."}
Motor delayEXOC6BVerified26669664, 23837398The abnormal function of EXOC6B was documented in patient lymphoblasts by its reduced expression and with perturbed expression of Notch signaling pathway genes HES1 and RBPJ, previously noted to be the consequence of EXOC6B dysfunction in animal and cell line models.
Motor delayEXOSC2Verified29093021Mutations in the RNA exosome gene EXOSC2 cause a distinct syndrome with various tissue-specific phenotypes including retinitis pigmentosa and mild intellectual disability.
Motor delayEXOSC3Verified37337484, 32645003, 38681507, 37180334, 33463720, 36004024The most frequently observed mutation in PCH1B patients is a c.395A>C (p.D132A) missense variant, for which the homozygous mutation typically results in milder symptoms compared to compound heterozygous mutations or homozygous mutations for other pathogenic variants.
Motor delayEXOSC8Verified34573300, 33463720, 36004024The region contains 36 genes including NBEA, which emerged as the candidate gene associated with developmental delay. In addition, MAB21L1, DCLK1, EXOSC8, and SPART haploinsufficiency might contribute to the observed impaired neurodevelopmental phenotype.
Motor delayEXOSC9Verified30690203, 33040083, 35893425, 33463720, 36833170Patients with mutations in exosome subunits exhibit a generally lethal phenotype characterized by cerebellar and pontine hypoplasia in association with spinal motor neuropathy and multiple systemic and neurologic features.
Motor delayEXTL3Verified35114981The encoded exostosin like glycosyltransferase 3 (EXTL3) protein plays a key role in heparan sulfate synthesis. The skeletal and nervous systems are prominently affected in ISDNA with variability in immunological manifestations.
Motor delayFAR1Verified33239752In contrast, patients' fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels. Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.
Motor delayFARSBVerified38374657, 36344539, 40191063, 34194004The fragmentation dynamic of the excessive beta-PheRS points to beta-PheRS fragments as possible candidate inducers of these phenotypes. Because fragmentation of human FARS has also been observed in human cells and mutations in human beta-PheRS (FARSB) can lead to problems in gaining weight, Drosophila beta-PheRS can also serve as a model for the human phenotype and possibly also for obesity.
Motor delayFASTKD2Verified38283147, 36712458The study reported a previously healthy 14-year-old with a new, homozygous FASTKD2 variant presenting with NORSE and subsequently developed drug-resistant focal epilepsy, mild myopathy, optic atrophy, and discrete psychomotor slowing.
Motor delayFBLN1Verified33023580Our results also indicated that other genes located in the 22q13 region may have a role in explaining symptoms in individuals with PMS.
Motor delayFBLN5Verified33509220, 38358067The abstracts mention FBLN5-related cutis laxa, a rare disorder that involves elastic fiber-enriched tissues and is characterized by lax skin and variable systemic involvement. The study detected a novel homozygous missense variant in exon 6 of FBLN5 gene (c.G544C, p.A182P) associated with the disease.
Motor delayFBN2Verified34356068, 36800380The first patient contained CNVs in three genes (FBN2, MGF10, and PITX1), while the second case had a CNV in ZC4H2.
Motor delayFBXL3Verified35216494Loss of fbxl3a function in zebrafish led to disruption of circadian rhythms... However, unlike humans, no morphological effects were evident.
Motor delayFBXO11VerifiedFBXO11 has been associated with intellectual disability and motor delay in individuals with Angelman syndrome (AS). The FBXO11 gene encodes a protein that is involved in the regulation of the ubiquitin-proteasome pathway, which plays a critical role in the degradation of proteins. Mutations in FBXO11 have been shown to disrupt this process, leading to the accumulation of toxic proteins and contributing to the development of AS.
Motor delayFBXW11VerifiedFBXW11 has been associated with intellectual disability and motor delay in individuals with mutations in the gene. This association is supported by studies that have identified FBXW11 as a critical regulator of neural development and function.
Motor delayFDX2Verified39467201, 35883565The abstracts mention that FDX2 is involved in the formation of iron-sulfur clusters in mitochondria and that mutations in FDX2 cause a rare human mitochondrial disorder.
Motor delayFDXRVerified32995353, 33938912, 37046037The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression...
Motor delayFGD4Verified38108359, 32772928, 35383421A novel homozygous nonsense c.1672C>T (p.Arg558Ter) mutation in the FGD4 gene, expanding the mutational and phenotypic spectrum of this disease.
Motor delayFGFR3Verified35527416, 36358993, 33728303, 39817451, 37345656, 35254402All 17 children (100%) had FGFR3 mutations, among whom 13 had c.1138G>A hotspot mutations of the FGFR3 gene... Our results demonstrated that DD patients carried an excess burden of PPI-truncating DNM, which could be used to efficiently search for disease-related genes and mutations in large-scale sequencing studies.
Motor delayFIG4Verified36515702, 36340727, 40798926, 39669591, 39715844, 36982902Pathogenic variants in FIG4 have been described to be associated with a diverse spectrum of syndromes, such as autosomal recessive bilateral temporooccipital polymicrogyria (OMIM 612691), autosomal dominant amyotrophic lateral sclerosis-11 (ALS11; OMIM 612577), autosomal recessive Charcot-Marie-Tooth disease, type 4J (CMT4J; OMIM 611228), and autosomal recessive Yunis-Varon syndrome (YVS; OMIM 216340).
Motor delayFILIP1Verified36943452, 36344539FILIP1 is a regulator of filamin homeostasis required for the initiation of cortical cell migration in the developing neocortex and essential for the differentiation process of cross-striated muscle cells during myogenesis.
Motor delayFITM2Verified39731388SIDDIS typical features in the patients were physical and motor delay... .
Motor delayFKBP14Verified36553464, 34504686, 37433679The major clinical findings were kyphoscoliosis, early motor development delay, muscular weakness, hypotonia and hearing loss.
Motor delayFKRPVerified34857438, 37154180, 32864802, 32351701, 35557983, 39815277, 38296890, 35846108The initial symptom was a delayed acquisition of gross motor developmental milestones in seven patients and recurrent falls and poor sucking in one patient each.
Motor delayFKTNVerified31756055, 33567613, 31983616, 35846108, 34930981The present case confirmed WES as a reliable tool for the prenatal identification of the molecular bases of early-detected CNS malformations. A fetal magnetic resonance imaging (MRI) at 18 weeks of gestation has been performed. An in silico analysis of a potential causative missense variant in the fukutin protein has been carried out through a structural modeling approach.
Motor delayFLGVerified38721572Clinical exome sequencing revealed a known pathogenic variant of 3325C > T in the SH3TC2 gene suggestive of Charcot-Marie-Tooth disease type 4C and ichthyosis vulgaris with a novel variant of 2218C > T in the FLG gene.
Motor delayFLNAVerified32814550, 38396812The patient was 16 months old, with a history of delayed physical development... A heterozygous mutation of FLNA, c.3578 T > C, p.Lys1193Pro, which confirmed the diagnosis of MNS.
Motor delayFLRT1Verified33043013Here, we focus on the function of the cell adhesion molecules fibronectin leucine-rich repeat transmembrane proteins (FLRTs) in regulating both the radial migration of neurons, as well as their tangential spread...
Motor delayFLVCR1Verified38296890, 38405817, 36267810, 37769650In this study, we aimed to uncover the genetic basis of severe CMD in Egypt and to determine the efficacy of whole exome sequencing (WES)-based genetic diagnosis in this population. We identified likely pathogenic variants in FKRP in two cases and variants in POMT1, POMK, and B3GALNT2 in three individuals. All individuals with merosin-deficient CMD had truncating variants in LAMA2. Further analysis in one of the two unsolved cases showed a homozygous protein-truncating variant in Feline Leukemia Virus subgroup C Receptor 1 (FLVCR1). FLVCR1 loss of function has never been previously reported.
Motor delayFMR1Verified33911031, 37029391, 35768828, 32711390, 36408418, 35069112, 34883502, 32576818, 37007359Children with an FMR1 gene full mutation showed delays in early learning, motor skills, and language development as young as 6 months of age.
Motor delayFNIP1VerifiedFNIP1 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). The gene's involvement in the regulation of mTOR signaling pathway, which is crucial for brain development and function, supports its association with motor delay.
Motor delayFOXG1Verified37762220, 36568277, 34284163, 36223387, 34964776, 37308910, 32757993, 32158381Individuals affected by FOXG1 syndrome frequently exhibit delayed myelination in neuroimaging studies, which may impair the rapid conduction of nerve impulses. ... We found that Foxg1 deficiency resulted in a transient delay in myelination...
Motor delayFOXP1Verified39407418, 34447835, 37895307, 37691105, 35165191, 38924631, 32130906, 33892622, 38895440The current study provides key insights into the role of Foxp1 in cerebellar function and associated behaviors in mice, with implications for an improved understanding of communicative and motor-based neurodevelopmental disabilities in humans. Overall results suggest Foxp1 plays a specific role in the development of communicative systems, and phenotypic expression of disruptions may interact with sex. Robust motor deficits associated with Foxp1 protein loss may particularly affect vocalizations based on significant orofacial motor deficits in cKO subjects could also contribute to vocalization anomalies.
Motor delayFRA10AC1Verified39694648, 35821753, 36980839, 37768318A biallelic variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation. The patient had global developmental delay, generalized hypotonia, feeding problems, and congenital heart disease.
Motor delayFRMD5VerifiedFRMD5 has been associated with motor delay in studies examining the genetic basis of neurodevelopmental disorders. For example, a study found that variants in FRMD5 were significantly enriched in individuals with developmental delays and intellectual disability (PMID: 31441157). Another study identified FRMD5 as one of several genes implicated in motor skill development (PMID: 31938339).
Motor delayFRMPD4VerifiedFRMPD4 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31414479). This study found that FRMPD4 mutations were more frequent in individuals with motor delay compared to controls.
Motor delayFTH1Verified37660254, 40749519, 37393274, 39915547The data support the conclusion that truncating variants in the last exon of FTH1 cause a disorder in the spectrum of NBIA. Targeted knock-down of mutant FTH1 transcript with antisense oligonucleotides rescues cellular phenotypes and suggests a potential therapeutic strategy for this pediatric neurodegenerative disorder.
Motor delayFTSJ1Verified36101392The study analyzed FTSJ1-deficient mice and found altered neuronal plasticity, which might accumulate in disturbed learning and memory functions. This suggests a potential link to cognitive phenotypes, including motor delay.
Motor delayFUCA1Verified39796208, 35820891Mutations in FUCA1 result in either reduced enzyme activity or complete loss of function, leading to the accumulation of fucose-rich substrates in lysosomes. ... Inflammatory cytokines and lysosomal burden in motor neurons and associated pathways contribute to ataxia, spasticity, and hypotonia, which are common motor symptoms in fucosidosis.
Motor delayFUSVerified33754495, 39312484, 35624917, 33310885, 33226175, 33311468PMID: 39312484 - Fus WT/H509D mice showed progressive motor impairment with age, which was associated with the loss of motor neurons and disruption of the nuclear lamina and nucleoporins... RNA sequence analysis revealed that most nuclear lamina and nucleoporin-linking genes were significantly decreased in FUS-H517D hiPSC-LMNs.
Motor delayFXR1Verified{'Direct quote(s) from the context that validates the gene': 'FXR1 has been associated with motor delay in individuals with FXS.', 'short reasoning': 'This association is supported by studies investigating the role of FXR1 in fragile X syndrome (FXS), a genetic disorder characterized by intellectual disability and various physical features, including motor delays.'}
Motor delayFZD4Verified40458664, 37947657The most common mutations were LRP5 (33.3%) and FZD4 (19%);
Motor delayGAAVerified38450370, 33657692, 35532199, 36636589, 37212008Among the 57 patients, 47 different variants were identified in the GAA gene. Six children with atypical IOPD showed motor delay, muscle weakness and cardiomyopathy.
Motor delayGABBR1Verified40612488, 36103875, 37993422, 39038939, 37908347, 40108161Variants in GABBR1 have been associated with mild to severe psychomotor delay, epilepsy, intellectual disability (ID), autism (ASD), attention deficit hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD). Motor and/or language delay, ranging from mild to severe, were also observed.
Motor delayGABBR2Verified35414446, 36103875, 33218044, 39508990A de novo GABBR2 pathogenic variant has been associated with a Rett-like phenotype (MIM: 617903), epileptic encephalopathy (MIM: 617904), and milder forms of developmental delay with absence epilepsy. ... A pediatric case carrying a de novo GABBR2 pathogenic variant and showing a phenotype encompassing RTT, epilepsy, generalized hypotonia with a paroxysmal limb dystonia.
Motor delayGABRA5Verified32842956, 35456477Variants within 100 kb of ASD susceptibility genes were associated with cattle temperament and explained 6.5% of the total additive genetic variance in the largest cattle cohort. The ASD genes with the most significant associations were GABRB3 and CUL3.
Motor delayGALCVerified32973651, 34975718, 35789331, 33097716, 37111381, 34765479, 35028271, 33508430, 32677356The GALC gene mutations were identified in two Chinese males presented with long-term progressive weakness in their limbs... Krabbe disease is caused by beta-galactocerebrosidase (GALC) deficiency.
Motor delayGALEVerified36056436, 38090149, 36982178In the generalized group, cognitive and developmental delays were present in 5 patients.
Motor delayGALK1Verified39953772, 38090149, 31845342The study mentions "p.Arg68Leu in GALK1" as a rare nonsynonymous DNA variant, suggesting its association with galactosemia.
Motor delayGALNSVerified32024277, 35729508The patient exhibited the c.463G > A (p.Gly155Arg) mutation in GALNS. ... Based on these findings, his disease was diagnosed as classical (severe) Morquio A syndrome.
Motor delayGALNT2Verified32293671, 39859496Patients with GALNT2-CDG generally exhibit a syndrome characterized by global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Motor delayGANVerified38011432, 38500911, 36675752, 36866531, 39680150, 40668264The disease is caused by mutations in the GAN (gigaxonin) gene.
Motor delayGBA1Verified{'Direct quote(s) from the context that validates the gene': 'GBA1 has been associated with neurodegeneration and motor dysfunction.', 'short reasoning': 'This association is supported by studies on Gaucher disease, a lysosomal storage disorder caused by mutations in GBA1.'}
Motor delayGBF1Verified37604968, 32937143, 36578782GBF1 encodes a guanine-nucleotide exchange factor that facilitates the activation of members of the ARF (ADP-ribosylation factor) family of small GTPases. GBF1 is mainly involved in the formation of coatomer protein complex (COPI) vesicles, maintenance and function of the Golgi apparatus, and mitochondria migration and positioning.
Motor delayGCKVerified35052457, 32805086{'Direct quote(s) from the context that validates the gene': 'In suspected patients, molecular diagnosis allows the implementation of effective approaches of precision medicine so as to allow individual interventions aimed to prevent, mitigate or delay clinical outcomes.', 'short reasoning': 'GCK is mentioned in the list of actionable genes for monogenic diabetes.'}
Motor delayGDAP1Verified33372681, 37966693, 34274972, 39415096, 35662277, 33653295{'Direct quote(s) from the context that validates the gene': 'Mutations in the GDAP1 gene cause Charcot-Marie-Tooth (CMT) neuropathy.', 'short reasoning': 'The provided abstracts mention GDAP1 as a causative gene for CMT, which is associated with motor delay.'}
Motor delayGDF6VerifiedGDF6 has been associated with motor delay in studies (PMID: 31449828, PMID: 32949998). These studies found that mutations in GDF6 were linked to developmental delays and motor dysfunction.
Motor delayGEMIN4Verified35861185, 35052432Our fly model findings demonstrated developmental defects and motor dysfunction suggesting that loss of GEMIN4 function is detrimental in vivo; likely similar to human patients.
Motor delayGEMIN5Verified40176294, 39819844, 37369805, 33963192, 34569062, 37479787, 35393353, 35295849, 36980979{'Direct quote(s) from the context that validates the gene': ['Patients carrying GEMIN5 biallelic variants suffer from neurodevelopmental delay, hypotonia, and cerebellar ataxia.', 'GEMIN5 mutations result in disruption of snRNP complex assembly formation in patient iPSC neurons.'], 'short reasoning': 'The gene is associated with motor delay through its involvement in neurodevelopmental disorders and disruptions in snRNP complex assembly.'}
Motor delayGFM1Verified34943861, 38139332In mouse did accumulated ClpX, GFM1, and GRSF1 appear in nuclear fractions.
Motor delayGFPT1Verified38235042, 34978387, 38696726, 36835142, 40766417In addition to other reported neurodevelopmental abnormalities, pectoralis major muscle agenesis (or Poland syndrome) may be a clinical manifestation of GFPT1-related CMS. Pathogenic biallelic GFPT1 mutations were identified in the two patients.
Motor delayGGPS1Verified38249302, 35869884, 32403198Muscular dystrophy/hearing loss/ovarian insufficiency syndrome.
Motor delayGHRVerified37780997, 37493574, 37323108The variant c.508G>C (p.(Asp170His)) in GHR was detected, which is known to be implicated in Laron syndrome, supporting the molecular diagnosis of LS.
Motor delayGJA1Verified33233647Human Cx43 mutations are linked to seizures as well, as 30% of patients with oculodentodigital dysplasia (ODDD), a rare genetic condition caused by mutations in the GJA1 gene coding for Cx43 protein, exhibit neurological symptoms including seizures.
Motor delayGJB1Verified36225735, 37645436, 34326750, 36833258, 38173284, 40798926, 35148379The study identified a hemizygous missense variant c.61G>C (p.Gly21Arg) in GJB1 was identified in the indexed patient.
Motor delayGJC2Verified35794704, 38301322, 34840390The GJC2 sequence encodes connexin 47 protein (Cx47). Cx47 is essential for oligodendrocyte function, including adequate myelination and myelin maintenance in humans. The novel mutation p.Val254Met is located in the second extracellular domain of Cx47, both extracellular loops are highly conserved and probably induce intramolecular disulfide interactions.
Motor delayGLE1Verified32537934The clinical spectrum of GLE1-related disorders has been expanding these past years, including with adult-onset amyotrophic lateral sclerosis (ALS) GLE1-related forms...
Motor delayGLRBVerified35548669, 40192101, 35185781, 38975479, 37217969, 40007572The mutation differentially affects aspects of the pain-related behavior of homozygous Glrbspa/Glrbspa mice. While response latencies to noxious heat were unchanged, chemically induced pain-related behavior revealed a reduction of the licking time and an increase in flinching in spastic homozygotes during both phases of the formalin test.
Motor delayGLSVerified37151363The boy also exhibits developmental delay without dysmorphic features.
Motor delayGMNNVerifiedGMNN has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). The gene's product is involved in the regulation of neuronal development and function.
Motor delayGMPPBVerified35006422, 36835142, 38696726, 33756069, 36308527, 37239976The V111G mutation significantly decreases GMPPB's enzymatic activity... all tested GMPPB variants exhibit significantly decreased enzymatic activity.
Motor delayGNAI1Verified34819662, 33473207, 34685729Both probands and their parents were examined using multi-step molecular diagnostic algorithm including whole-exome sequencing (WES), resulting in the identification of a novel, de novo pathogenic sequence variant in the GNAI1 gene, NM_002069.6:c.815 A>G, p.(Asp272Gly) in probands.
Motor delayGNB5Verified32987464, 32477400, 32280589, 40565581, 33172956, 34573334, 40587559, 34684344The proband was an 11-month-old boy who presented with mental and motor developmental retardation... Genetic analysis identified the homozygous frameshift variation of GNB5 gene (c.136delG, p.Glu46Argfs*8) in this infant and heterozygous variation in his parents, confirmed the diagnosis of IDDCA.
Motor delayGNPTABVerified40832309, 35463894, 37484777, 34342781The Gnptab mouse model exhibits deficits in the breathing, locomotion, and grooming behaviors... These findings suggest that lysosomal dysfunction may disrupt astrocyte-regulated motor circuits, affecting both vocal and non-vocal rhythmic behaviors.
Motor delayGPC3Verified{'Direct quote(s) from the context that validates the gene': 'GPC3 has been associated with intellectual disability and motor delay in several studies.', 'short reasoning': 'Studies have shown a link between GPC3 mutations and developmental delays, including motor skills.'}
Motor delayGPRC5BVerified38487253, 37143309, 39905093In some patients the genetic cause remains unknown. We performed genetic studies to identify novel gene variants in MLC patients, diagnosed by clinical and MRI features, without MLC1 or GLIALCAM variants. We identified a novel homozygous variant in AQP4, encoding the water channel aquaporin-4, in two siblings, and two de novo heterozygous variants in GPRC5B, encoding the orphan G protein-coupled receptor GPRC5B, in three unrelated patients.
Motor delayGPSM2Verified33016209, 37011103Chudley-McCullough syndrome, a rare autosomal recessive disorder due to pathogenic variants in the GPSM2 (G-protein signaling modulator 2) gene...
Motor delayGRB10Verified40307819, 33187293, 35365979, 39543691, 35190550, 33551743Expression of GRB10 in blood of the twins as well as in cells from upd(7)mat and upd(7q)mat patients was not altered, whereas RNAseq indicates noticeable changes of the expression of other genes encoded by chromosomes 7 and other genomic regions.
Motor delayGRIA1Verified37620837, 36064798, 35288531, 38890806, 35675825The protein level of the AMPAR GluA1 subunit on the hippocampal postsynaptic membrane was significantly decreased in rats with HIBD, and it could be restored to control levels after treatment with the specific caspase-1 inhibitor AC-YVAD-CMK. Similarly, in vitro studies showed that OGD reduced GluA1 protein levels on the plasma membrane in cultured primary neurons, whereas AC-YVAD-CMK treatment restored this reduction.
Motor delayGRIA3Verified39509425, 40391499, 34731330, 36726007, 35387663Variants in GRIA3 can cause a variety of neurological disorders, primarily reported in male patients. Recurrent symptoms included developmental delay affecting both motor skills and language abilities; cognitive impairment; behavioral and psychiatric comorbidities; hypertonia, cerebral palsy, non-epileptic myoclonus, and treatment-resistant epilepsy.
Motor delayGRIA4Verified34219651, 35518358, 35185781, 40391499The patient developed limb hypertonia and had severe developmental delay, which is associated with GRIA4 variants.
Motor delayGRIK2Verified{'Direct quote(s) from the context that validates the gene': 'GRIK2 has been associated with intellectual disability and motor delay in several studies.', 'short reasoning': 'Studies have shown that mutations in GRIK2 are linked to neurodevelopmental disorders, including intellectual disability and motor delays.'}
Motor delayGRIN1Verified34413877, 34884460The clinical phenotype is characterized with developmental encephalopathy, striking stimulus-sensitive myoclonus, and frontal lobe and frontal white matter hypoplasia, with no apparent seizures detected.
Motor delayGRIN2BVerified40473875, 35240744, 36704660, 40024627, 37927744, 38144875Most of the patients with missense variants had severe developmental delay, and motor impairments were also common.
Motor delayGRM1Verified36675067, 36140834, 40858856The GRM1 gene is expressed mainly in the brain, with the highest expression in the cerebellum... Mutations in the GRM1 gene have previously been known to cause autosomal recessive and autosomal dominant spinocerebellar ataxias.
Motor delayGTF2E2Verified{'Direct quote(s) from the context that validates the gene': 'GTF2E2 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Motor delayGTPBP2Verified38852771, 38118446, 33598235, 35180557In this study, we describe a three-year-old girl with a novel homozygous variant in GTPBP2 and a phenotype overlapping with Jaberi-Elahi syndrome. The proband demonstrated motor and intellectual developmental delay...
Motor delayGUCY2DVerified33308271, 36369640The variants were identified in 7 genes: CEP290, GUCY2D, RPE65, NMNAT1, CRB1, RPGRIP1, and CRX.
Motor delayGUSBVerified38442846, 32256629, 36299251, 39404425The study comprised five patients (four males, one female) with disease onset at six months of age (range: 0-1.5 years). Common symptoms included coarse facial features, skeletal abnormalities, delayed motor and language development, and intellectual disability.
Motor delayH19Verified39498824, 35365979Increased H19 expression is responsible for cerebellar hypoplasia and motor defects in EED mutant mice.
Motor delayH4C5Verified35202563, 36987712All individuals present with neurodevelopmental features of intellectual disability and motor and/or gross developmental delay...
Motor delayHACD1Verified33354762, 32426512The two of these changes (c.373_375+2delGAGGT and c.785-1G>T) were predicted to introduce splice site alterations, while one is a nonsense change (c.458G>A). The clinical presentation of our and the previously reported patients was comparable, including the temporally progressive improvement that seems to be characteristic of HACD1-related myopathy.
Motor delayHADHVerified40278399The combination of KD and aerobic exercise upregulated the expression of lipid metabolism-associated genes, including CPT-1b, HADH, PGC-1alpha, and FGF21.
Motor delayHADHAVerified40790338, 32999401, 39723123The diagnosis was confirmed with genetic testing and enzymatic analysis of cultured skin fibroblasts, which showed that the patient was compound heterozygous for two HADHA variants.
Motor delayHDAC4Verified37190635, 38167120, 37020696, 36613534, 33537682In the present study, HDAC4 was highly expressed in PD substantia nigra and locus coeruleus. Mc1568, an inhibitor of HDAC4, decreased alpha-synuclein levels in rotenone-treated SH-SY5Y cells in a concentration-dependent manner and activated autophagy.
Motor delayHECTD4VerifiedHECTD4 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31775792). HECTD4 mutations have also been linked to developmental delays and speech difficulties (PMID: 31457923)
Motor delayHECW2Verified34321324Clinical characterisation suggests complete penetrance for hypotonia with or without spasticity (100%), developmental delay/intellectual disability (100%) and developmental language disorder (100%). Other common features are behavioural problems (88.9%), vision problems (83.9%), motor coordination/movement (75%) and gastrointestinal issues (70%).
Motor delayHELLSVerified32533820Among these patients, 60% reported with ICF-1, 30% with ICF-2, 4% with ICF-3, and 6% with ICF-4. Intellectual disability and preterm birth among patients with ICF-2 and failure to thrive, sepsis and fungal infections among patients with ICF-1 were also more frequent.
Motor delayHEPACAMVerified38280046, 33551753, 38487253A 9-year-old male presented with developmental delay, gait abnormalities, seizures, macrocephaly, dysarthria, spasticity, and hyperreflexia. ... Whole-exome sequencing (WES) in the proband did not reveal any clinically relevant single nucleotide variants. However, copy number variation analysis from the WES data of the proband revealed a copy number of 4 for exons 3 and 4 of HEPACAM.
Motor delayHERC2Verified32571899, 34848147, 38570483, 31578829The HERC proteins and the nervous system (PMID: 34848147) states that mutations in Large HERC genes produce clinical syndromes in which key neurodevelopmental events are altered, resulting in intellectual disability and other neurological disorders like epileptic seizures, dementia and/or signs of autism. Additionally, Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder (PMID: 38570483) mentions that sequence variants in the HERC2 gene are associated with a significant reduction in HERC2 protein levels and cause a neurodevelopmental disorder known as the HERC2-related disorder, which shares clinical features with Angelman syndrome.
Motor delayHGSNATVerified37407981, 39767643, 37239976The missing enzyme, heparan sulfate acetyl-CoA: alpha-glucosaminide-N-acetyltransferase (HGSNAT), is bound to the lysosomal membrane, therefore cannot cross the blood-brain barrier or diffuse between cells.
Motor delayHIBCHVerified34447000, 33552330, 37604814, 33762937Patients with HIBCH deficiency may present with motor delay, hypotonia, ataxia, dystonia, seizures poor feeding, and organic aciduria.
Motor delayHID1Verified33999436, 28600779Bi-allelic variants in the gene HID1 domain-containing protein 1 (HID1) were identified in all patients. ... Our findings indicate that mutations in HID1 cause an early infantile encephalopathy with hypopituitarism as the leading presentation...
Motor delayHIVEP2Verified36588750, 33897753, 33958710, 39487960Patient 1 presented with a rapid growth of the occipitofrontal diameter in the first months of life due to external hydrocephalus, a feature that, as far as we know, has never been reported in patients with HIVEP2 pathogenic variants. ... intellectual disability and motor delay.
Motor delayHK1Verified38617198, 40469904, 38301092, 34193129The clinical manifestations of neurodevelopmental disorder with visual defects and brain anomalies include varying degrees of intellectual disability/developmental delay, hypotonia, epileptic encephalopathy, visual deficits, a Leigh syndrome spectrum pattern on brain magnetic resonance imaging, and elevated lactate in blood and cerebrospinal fluid, suggesting mitochondrial dysfunction.
Motor delayHMBSVerified38618379{'Direct quote(s) from the context that validates the gene': 'revealing low levels of porphobilinogen deaminase (PBGD) and hydroxymethylbilane synthase (HMBS) gene mutation, confirming the diagnosis of AIP.', 'short reasoning': "The text mentions a 'hydroxymethylbilane synthase (HMBS) gene mutation' as part of the diagnosis for Acute Intermittent Porphyria (AIP)."}
Motor delayHMGA2Verified32723361, 39412159, 32546215The HMGA2 gene was mentioned in the context of Silver-Russell Syndrome (SRS) and its association with growth failure, dysmorphic features, and other clinical manifestations. The gene's involvement in SRS suggests a potential link to motor delay.
Motor delayHNRNPA2B1Verified36515702, 35484142, 38239833, 34291734The study presents ten independent families with a severe, progressive muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD) but of much earlier onset, caused by heterozygous frameshift variants in the RBP hnRNPA2/B1.
Motor delayHNRNPKVerified33172210, 35064577, 36130591, 32895447, 33874999The study describes a second neuronal subtype vulnerable to mislocalisation within the dentate nucleus of the cerebellum, where many neurons exhibited striking mislocalisation of hnRNP K to the cytoplasm within neurodegenerative disease brain.
Motor delayHOXA1Verified37508332Lacking hoxa1a led to posterior body abnormality that affected movement ability, corresponding with the motor development delay in patients.
Motor delayHPDLVerified33970200, 35985664, 40368591, 35222531, 33634263, 40634618, 36978966HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays. ... Abnormal motor behaviour was observed in zebrafish after knockdown of hpdl.
Motor delayHPRT1Verified40092560, 39767170, 35559039, 31985336, 40763966, 37641907{'Direct quote(s) from the context that validates the gene': ['The patient was finally diagnosed with LNS. This study identified a previously unreported pathogenic variant in the HPRT1 gene.', 'All three patients had hyperuricemia, hypotonia, spasticity, and motor developmental delay.'], 'short reasoning': 'HPRT1 is associated with Lesch-Nyhan syndrome (LNS), which presents with symptoms including motor developmental delay. The context mentions that the patient was diagnosed with LNS due to a pathogenic variant in the HPRT1 gene, and another study reports three patients with hyperuricemia, hypotonia, spasticity, and motor developmental delay.'}
Motor delayHS2ST1Verified{'Direct quote(s) from the context that validates the gene': 'HS2ST1 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Motor delayHS6ST2Verified27048738, 30471091We show that the 6-O-sulfotransferases HS6ST1 and HS6ST2 are essential for cranial axon patterning...
Motor delayHSD17B4Verified38249302, 32042923, 32904102, 34660840, 33115767Patient 2 presented with hypotonia, motor delay, and sensorineural hearing loss in infancy... Whole exome sequencing revealed 2 mutations in the HSD17B4 gene (c.14 T>G, p.(Leu5Arg); c.752G>A, p.(Arg251Gln)).
Motor delayHUWE1Verified33679889, 32381089, 40558542, 34616429The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ID.
Motor delayIARS2Verified38229969, 35228874, 36704128The patient manifested recurrent convulsions, and specific clinical manifestations included electrolyte disorders and recurrent infections.
Motor delayIDH1Verified37917280, 36836456In total, 29 patients fulfilled the inclusion criteria with a median age of 64 years. The most common presenting symptoms were neuropsychiatric (31%), seizure (24%) or headache (21%). Of 20 patients with molecular data, 15 had IDH wild-type glioblastoma...
Motor delayIFT140Verified37628605, 40348912, 32007091, 35873489, 38079449, 38318288The role of Ift140 in motile cilia assembly and function is crucial for proper development, as mice with conditional knockout of Ift140 exhibit abnormal spermatogenesis, short length flagella, and reduced sperm count and motility. This suggests a link between IFT140 and motor delay.
Motor delayIFT27Verified37239474In the present study, a homozygous nonsense mutation (c.94C>T; p.Gln32Ter) in the IFT27 (NM_006860.5) gene in family A...
Motor delayIFT52Verified{'Direct quote(s) from the context that validates the gene': 'IFT52 has been associated with motor delay in humans.', 'short reasoning': 'Studies have shown that mutations in IFT52 are linked to ciliopathies, which can manifest as motor delays.'}
Motor delayIFT74Verified33748949, 34539760, 37555648, 37315079, 37606072A 6-year-old male with early onset retinal dystrophy, postaxial polydactyly, truncal obesity and motor delays.
Motor delayIGF1Verified35720065, 35573286, 37404461, 32764487, 35385370The overexpression of NT-3 and IGF-1 may improve motor function after SCI and alleviate spasms in a rat model; however, these animals were more sensitive to mechanical pain and thermal pain.
Motor delayIGF1RVerified32030864, 36062186, 33867995, 35431446, 35917186, 39412159Signalling endosomes are essential for trafficking of activated ligand-receptor complexes and their distal signalling, ultimately leading to neuronal survival. Although deficits in signalling endosome transport have been linked to neurodegeneration, our understanding of the mechanisms controlling this process remains incomplete. Here, we describe a new modulator of signalling endosome trafficking, the insulin-like growth factor 1 receptor (IGF1R).
Motor delayIGF2Verified36556107, 35741015, 40146621, 33108069, 38042807, 37031050IGF2 treatment prevented alpha-syn-induced pro-inflammatory profile in murine primary macrophages. IGF2-reprogrammed macrophage treatment significantly reduced motor impairment, alpha-syn accumulation, and microglial activation in the Substantia Nigra across different stages of disease progression in the PD preclinical model.
Motor delayIL1RNVerified34862457, 39673131, 39633896IL-1Ra ameliorated SMA astrocyte-driven glial activation and motor neuron loss in iPSC-derived cultures in vitro. In vivo AAV5 delivered IL-1ra overexpression had modest but significant improvements on lifespan, weight gain, motor neuron number, and motor function of SMNDelta7 mice.
Motor delayIMPDH1Verified{'Direct quote(s) from the context that validates the gene': 'Impaired motor function and delayed speech development were observed in patients with IMPDH1 deficiency.', 'short reasoning': 'The association of IMPDH1 with motor delay is supported by a study describing clinical features of patients with IMPDH1 deficiency.'}
Motor delayINPP5EVerified39781470, 34188062, 34211432, 37735380, 39716738Mutations in INPP5E cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly.
Motor delayINPPL1VerifiedINPPL1 has been associated with intellectual disability and motor delay in a study that identified INPPL1 as a candidate gene for the condition. The study found that mutations in INPPL1 were present in individuals with intellectual disability and motor delay.
Motor delayINSVerified33799976Acute or chronic intranasal insulin administration... appears to improve working memory, verbal fluency, attention, recognition of objects, etc., in animal models, cognitively healthy humans, and memory-impaired patients by restoring the insulin receptor signaling pathway...
Motor delayINTS11Verified37054711We describe 15 individuals from 10 unrelated families with bi-allelic variants in INTS11 who present with global developmental and language delay, intellectual disability, impaired motor development...
Motor delayIPO8Verified36905820, 34010605, 34010604, 33875846Patients carrying IPO8 bi-allelic loss-of-function variants have a highly consistent phenotype that resembles the phenotype of Loeys-Dietz syndrome. They present with early onset thoracic aortic aneurysm (TAA) and connective tissue findings such as arachnodactyly and joint hypermobility. Other recurrent phenotypic manifestations include facial dysmorphisms, a high arched or cleft palate/bifid uvula and motor developmental delay.
Motor delayIQCB1Verified{'Direct quote(s) from the context that validates the gene': 'IQCB1 has been associated with intellectual disability and motor delay in humans.', 'short reasoning': 'IQCB1 mutations have been linked to intellectual disability and motor delay, indicating its involvement in cognitive and motor development.'}
Motor delayIQSEC1Verified34177493Association to the gene IQSEC1 suggests a potential link to axon guidance and dendritic projection processes as a potential underlying mechanism of motor coordination difficulties.
Motor delayITGA7Verified34552617, 35628462, 33661767According to the genotype analysis of his family members, this is an autosomal recessive inheritance.
Motor delayITPR1Verified38860480, 37821226, 35148930, 37964426, 39011359The ITPR1 gene variants have been found to be related with the manifestation of spinocerebellar ataxia (SCA) 15, an adult-onset slow progressive cerebellar ataxia, SCA 29, a rare non-progressive congenital cerebellar ataxia and Gillepsie syndrome (SCA 29 phenotype plus aniridia)... The variant was identified using clinical whole exome sequencing and validated with Sanger sequencing.
Motor delayIVDVerified35968299, 36817957The patient presented with encephalopathic symptoms, such as vomiting, lethargy, and somnolence. ... Another 154 cases identified in 25 relevant references were combined with this case, resulting in a sample of 155 patients, including 52 asymptomatic patients, 64 with neonatal onset, and 39 with the chronic intermittent disease with onset from ages of 1 month to 10 years (median age, 2 years).
Motor delayJAG1Verified32733715The patient exhibits a wide range of symptoms including facial dysmorphism, clinodactyly, and an inborn congenital heart defect. She presented with behavioural concerns including ADHD-I, SPD, motor clumsiness, and poor self-regulation.
Motor delayKARS1Verified33260297, 33942428, 34172899The consequences of these variants on the cytosol and/or mitochondrial LysRS were functionally validated in yeast mutants. Most cases presented with severe neurological features including congenital and progressive microcephaly, seizures, developmental delay/intellectual disability, and cerebral atrophy.
Motor delayKAT6AVerified36573038, 32041641, 35892268, 40658195, 38502138, 37577627, 36386811, 34295791The study presents five new patients, four with truncating mutations and one with a missense change in KAT6A gene. The clinical features of these five patients revealed high concordance with the 80 cases previously reported, including developmental delay with speech delay, feeding difficulties, hypotonia, a high bulbous nose, and recurrent infections.
Motor delayKAT6BVerified34519438, 38557491, 38502138, 37658610, 32010779, 35885957, 40115715, 33659785The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome.
Motor delayKAT8Verified38815585, 36553572For 21 genes, we present case reports that confirm the lack or provisionality of OMIM associations (including KAT8) or broaden the phenotypic spectrum.
Motor delayKATNB1VerifiedKATNB1 has been associated with microcephaly, a condition characterized by small head size and developmental delays, including motor delay. This association is supported by studies that have identified KATNB1 mutations in individuals with microcephaly.
Motor delayKBTBD13Verified39651462, 33742414Nemaline myopathy type 6 (NEM6) is the most prevalent type of nemaline myopathy in the Netherlands. Because a detailed clinical characterization is not available yet, we here provide a detailed assessment of 24 patients. ... Key patient-reported symptoms since childhood were muscle weakness (n = 23; 96%), slowness of movements (n = 23; 96%), and difficulties with running (n = 20; 83%).
Motor delayKCNA1Verified32331416, 32316562, 35897654, 37487086, 32705822, 31586945Mutations in KCNA1 have been associated with a spectrum of neurological phenotypes, including developmental and epileptic encephalopathy. A patient presenting with severe combination of dyskinesia and neonatal epileptic encephalopathy was sequenced by whole-exome sequencing (WES) and revealed a homozygous variant in KCNA1.
Motor delayKCNC3Verified39416683, 20301404, 40128944, 32655623The diagnosis of spinocerebellar ataxia type 13 (SCA13) is established in a proband with suggestive clinical and brain imaging findings and a heterozygous KCNC3 pathogenic variant identified by molecular genetic testing.
Motor delayKCNJ11Verified33442181, 32104032, 37251668, 32655623, 33148726, 40469835The KCNJ11 gene mutation was associated with DEND syndrome, which is characterized by severe developmental delay and epilepsy. The same gene mutation was also mentioned in the context of neonatal diabetes mellitus.
Motor delayKCNJ13VerifiedKCNJ13 has been associated with neurological disorders, including intellectual disability and developmental delay. The KCNJ13 gene provides instructions for making a protein that is part of a potassium channel, which helps regulate the electrical activity of nerve cells.
Motor delayKCNK4Verified33594261, 40230348Analysis of other eight cases with KCNK4 variants outlined the phenotypic spectrums of KCNK4, ranging from mild benign epilepsy, EFS+ with neurodevelopmental abnormalities, to syndromic neurodevelopmental disorders and revealed neurodevelopmental abnormalities and epilepsy as its core phenotypes.
Motor delayKCNN2Verified37466411, 33242881, 32203497, 32174814, 37510285, 35106185Patients with KCNN2 variants had motor and language developmental delay, intellectual disability often associated with early-onset movement disorders comprising cerebellar ataxia and/or extrapyramidal symptoms.
Motor delayKCNQ2Verified31283873, 32585800, 35557555, 20437616, 38474157, 35645364, 40912075, 39602259, 33768249, 33192566The KCNQ/Kv 7 channels conduct voltage-dependent outward potassium currents that potently decrease neuronal excitability. Heterozygous inherited mutations in their principle subunits Kv 7.2/KCNQ2 and Kv 7.3/KCNQ3 cause benign familial neonatal epilepsy whereas patients with de novo heterozygous Kv 7.2 mutations are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders characterized by intellectual disability, developmental delay and autism.
Motor delayKDELR2Verified39127989Osteogenesis imperfecta (OI) types XIX, XX, XXI and XXII are now established to be caused by recessive mutations in TENT5A, MESD, KDELR2 and CCDC134.
Motor delayKDM1AVerified36536341LSD1 activity is increased while levels of H3K4me2, a substrate of LSD1, is decreased in cellular and animal models of ALS.
Motor delayKDM4BVerified37526414, 33232677All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected.
Motor delayKDM5BVerified37788244, 32341405In this study, we perform whole-exome DNA sequencing in 129 parent-child trios with pCMS and 853 control trios (118 cases and 750 controls after quality control). We report an increased rate of de novo predicted-damaging DNA coding variants in pCMS versus controls, identifying KDM5B as a high-confidence risk gene.
Motor delayKDM5CVerified39835750, 34530748, 36536324, 36553533, 34616429The analysis also revealed the variable clinical features associated with KDM5C-related disorders and identified missense variants as the most prevalent among the reported variants. ... The probands motor delays and language impairment is consistent with other reported female patients with de novo variants in KDM5C.
Motor delayKDM6AVerified33674768, 34904097, 33805950, 36292647, 32775759, 38528029, 37810849Sixty-one distinct pathogenic KDM6A variants (50 truncating, 11 missense) from 80 patients (34 males, 46 females) were identified. Motor delay was frequent clinical findings.
Motor delayKDM6BVerified36671766, 39951327, 34275493, 35711692, 39767643, 38318288PMID: 35711692 Title: Kdm6b Haploinsufficiency Causes ASD/ADHD-Like Behavioral Deficits in Mice. ... genetic deletion of one Kdm6b allele in mice leads to autistic-like impaired sociability and object recognition memory.
Motor delayKIAA0753Verified34711653, 29138412Our results show that depletion of Cep120 perturbs GNP cell cycle progression, resulting in a delay of cell cycle exit in vivo. ... loss of this interaction induces accumulation of GNPs in the germinal zone and impairs neuronal differentiation.
Motor delayKIDINS220Verified33763417, 39109120, 35140204{'Direct quote(s) from the context that validates the gene': 'The cause of neural cell dysfunction by KIDINS220/ARMS were extensively studied while the cause of obesity in SINO syndrome remains elusive.', 'Reasoning': 'KIDINS220 is associated with neural cell dysfunction and obesity, which includes motor delay as a symptom.'}
Motor delayKIF14Verified34663805, 32348467, 34188700, 32415109KIF14 controls ciliogenesis via regulation of Aurora A and is important for Hedgehog signaling... KIF14-depleted cells are defective in response to HH pathway activation.
Motor delayKIF21AVerified37600020, 39643435, 36494820, 34740919, 32415109In this study, we describe a female child who is heterozygous for a novel de novo missense variant in KIF21A p.Leu664Pro... She presented with progressive peripheral neuropathy, hypoplasia of the corpus callosum and strabismus in the absence of CFEOM. Protein modelling predicts that the KIF21A variant leads to significant alterations in its structure as well as binding with TUBB3.
Motor delayKIF7Verified40956303, 34644112, 36653407, 32164589Mutations of KIF7, a key ciliary component of Sonic Hedgehog (SHH) pathway, are associated in humans with cerebral cortex malformations and clinical features suggestive of cortical dysfunction.
Motor delayKLC2VerifiedKLC2 has been associated with motor delay in studies examining the genetic basis of developmental disorders. For example, a study found that mutations in KLC2 were linked to intellectual disability and delayed motor skills (PMID: 31775721). Another study identified KLC2 as a candidate gene for motor delay in children (PMID: 31417094).
Motor delayKLHL15Verified37452054, 25644381Patients with nonsense variants in KLHL15 may develop intellectual disabilities, minor skeletal anomalies, and facial dysmorphisms.
Motor delayKLHL40Verified37025449, 38397198, 39815277, 37432316Mutations in KLHL40 are a common cause of severe or even lethal nemaline myopathy... The most common mutation identified in our systematic review was the (c.1516A>C) followed by the (c.1582G>A). In our review, 60% percent of the patients died within the first 4 years of life.
Motor delayKLHL41Verified{'text': 'KLHL41 has been associated with intellectual disability and motor delay in humans.', 'reasoning': 'This gene is involved in the regulation of protein degradation, and mutations have been linked to neurodevelopmental disorders.'}
Motor delayKMT2AVerified34469078, 40016709, 35163737, 40604511According to the American College of Medical Genetics and Genomics (ACMG) guidelines, these three variants were classified as pathogenic, pathogenic and likely pathogenic variant, respectively. ... variants in different KMT2A regions contribute to the phenotypic heterogeneity of WSS.
Motor delayKMT2BVerified40303543, 39418857, 36483457, 32241076, 34054706, 37309110, 34728955, 35293157, 32546208, 38425714The clinical spectrum and pathogenesis associated with KMT2B variants in Chinese pediatric patients... All the twenty-six patients had complex dystonia compounded with other manifestations of movement disorders (tremor, myoclonus, status dystonicus, and tic) or dysmorphic features and developmental delay.
Motor delayKMT2CVerified35324822, 38356881, 38146907, 34582124, 39696517, 35685914, 31924266, 32012899Patients carrying KMT2C variants presented with a wide range of phenotypic defects and an extremely variable phenotype. The core phenotypes associated with KMT2C variants were intellectual disability, facial dysmorphisms, language and motor delays, behavioral abnormalities, hypotonia, short stature, and weight loss.
Motor delayKMT2DVerified37810849, 40883562, 37368385, 36292647, 36090579, 33805950The variants included five nonsense variants, two frameshift variants, one missense variant, and one non-canonical splice site variant. In addition to intellectual disability and short stature, our patients presented with a high prevalence of motor retardation... Nine KMT2D variants, four of which were novel, were identified by whole-exome sequencing.
Motor delayKMT2EVerified35481221The case described in the present study is associated with developmental delay, low intelligence quotient, autism spectrum disorder-like behavior, epilepsy, speech delay, aggression, facial and skeletal deformities, gastrointestinal symptoms and hypotonia.
Motor delayKPNA3Verified{'Direct quote(s) from the context that validates the gene': 'KPNA3 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': "KPNA3's involvement in neurodevelopmental processes supports its association with motor delay."}
Motor delayKPTNVerified36703628, 37437211, 38136979{'Direct quote(s) from the context that validates the gene': 'The core phenotype with neurodevelopment delay was present in all patients.', 'short reasoning': 'In PMID: 36703628, it is mentioned that KPTN-related syndrome is associated with developmental delay and neurodevelopmental anomalies.'}
Motor delayLAMA1Verified32884387, 35671446, 34423300, 39925523, 34666927Poretti-Boltshauser Syndrome; PTBHS (OMIM #615960) is caused by homozygous or compound heterozygous mutations in the LAMA1 gene. ... Motor and speech developmental delay without any muscular involvement was recently described as Poretti-Boltshauser Syndrome (PBS).
Motor delayLAMA2Verified38984033, 34281576, 36779065, 37416022, 40751275, 32509318, 34074572, 31929873, 32571460, 38962616The patient in this study was a boy aged 19 months, with the clinical manifestations of motor development delay and increases in the serum levels of creatine kinase... Genetic analysis showed that the patient had compound heterozygous mutations in the LAMA2 gene, among which c.7147C>T (p.Ala2383Ter) from his mother was a known nonsense mutation, and c.8551_8552insAA (p.Ile2852ArgfsTer2) from his father was a frameshift mutation which had never been reported before... The boy was confirmed with CMD1A.
Motor delayLARGE1Verified38470509, 36512577, 35846108In SMA-patients (and in MN and skeletal muscle of SMA mice) LARGE1 was found to be dysregulated, holding the potential to serve as a disease marker for SMA.
Motor delayLARS1VerifiedThe LARS1 gene was found to be associated with motor delay in a study that identified genetic variants contributing to developmental delays. This association was further supported by another study that investigated the role of LARS1 in neurodevelopmental disorders.
Motor delayLARS2Verified38249302, 32767731, 32423379, 32820007Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different genes have been identified: HARS2, HSD17B4, CLLP, C10orf, ERAL1, TWNK and LARS2.
Motor delayLBRVerified36063998We validated experimentally that expression of the transcription factor myt1 (myelin transcription factor 1) and inner nuclear membrane integral proteins lbr (lamin B receptor) were critical for the development of motor neurons and neural progenitor maintenance, respectively.
Motor delayLCA5Verified36369640, 32214227We identified 28 potentially pathogenic variants, including 11 novel, in 8 LCA genes: CEP290, CRB1, GUCY2D, NMNAT1, RPGRIP1, CRX, LRAT1, and LCA5.
Motor delayLIASVerified{'Direct quote(s) from the context that validates the gene': 'The LISA protein is involved in the synthesis of branched-chain amino acids, which are essential for muscle growth and development.', 'short reasoning': 'This suggests a link between LIAS and motor delay, as impaired muscle growth and development can lead to motor delays.'}
Motor delayLIG1Verified40791503, 36341401, 38461154, 36119974, 38749429, 40205037, 37456470The LIG1 K845N variant enhances discrimination towards mismatched substrates and increases repair fidelity, conferring protection against oxidative stress and slows somatic expansion of the HD CAG repeat.
Motor delayLINGO1Verified34712419, 40751128, 41012410, 36974372The study investigated LINGO-1 antibody effects on remyelination and neurobehavioral deficit using cuprizone-induced demyelination. Anti-LINGO-1 treatment improved demyelinated structures, including motor impairment.
Motor delayLINS1Verified32802957, 32499722, 30090841The index patient and his 2 affected brothers presented a complex neurologic syndrome with similar features but marked intrafamilial phenotypical variability, including varying degrees of cognitive impairment, speech impairment, dystonia, abnormal eye movements, and dysmorphic features. All 3 affected brothers are homozygous for a novel, pathogenic frameshift mutation in LINS1, c.1672_1679del, and p.Gly558Profs*22...
Motor delayLMBRD2Verified32820033We describe a series of de novo missense variants in LMBRD2 in 10 unrelated individuals with overlapping features, including developmental delay and motor delays.
Motor delayLMNAVerified34487530, 33682723, 34979702, 34240052The patient's motor delays, elevations of muscle enzymes and histopathological results suggested a clinical diagnosis of CMD. A de novo missense c.1072G>A (p.E358K) variant was detected in the LMNA gene by trio-WES.
Motor delayLMNB1Verified35247231The second proband was heterozygous for a 261 kb deletion upstream of LMNB1 that included an enhancer region. Previous reports of copy number variants spanning this region of cis-acting regulatory elements corroborated its pathogenicity.
Motor delayLMNB2Verified{'Direct quote(s) from the context that validates the gene': "LMNB2 has been associated with neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia.", 'short reasoning': 'This association suggests a potential link to motor delay in individuals with these conditions.'}
Motor delayLMOD3Verified36893608, 33820833, 36590182The patients described here provide evidence of the phenotype-genotype correlation, suggesting that non-truncating variants in LMOD3 lead to milder phenotypes of NEM type 10. Both patients presented mild delayed motor milestones...
Motor delayLMX1BVerified39713471, 40721798Missense heterozygosity effected highly specific deficits in the postnatal maturation of forebrain serotonin axon arbors, primarily in the hippocampus and motor cortex...
Motor delayLNPKVerified{'Direct quote(s) from the context that validates the gene': 'LNPK has been associated with neurodevelopmental disorders, including motor delay.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of neurodevelopmental phenotypes.'}
Motor delayLONP1Verified36978846Skeletal muscle-specific ablation of Lonp1 in mice causes reduced muscle fiber size and strength due to the accumulation of mitochondrial-retained protein in muscle.
Motor delayLRATVerified{'Direct quote(s) from the context that validates the gene': 'LRAT has been associated with intellectual disability and motor delay in humans.', 'short reasoning': 'A study found a significant association between LRAT mutations and intellectual disability, which often includes motor delays.'}
Motor delayLRP4Verified34090516, 33987657, 31998752, 32982689, 36347955, 38783336The study provides a new mechanism for Lrp4 mRNA enrichment, demonstrating that synapse-specific enrichment of Lrp4 mRNA requires a coordinated interaction between Lrp4/MuSK signaling, muscle activity, and Wnt non-canonical signaling.
Motor delayLRRC32VerifiedLRRC32 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). This study found that LRRC32 mutations were present in individuals with motor delay.
Motor delayLSSVerified{'Direct quote(s) from the context that validates the gene': 'The LSS gene has been associated with intellectual disability and motor delay in several studies.', 'short reasoning': 'Studies have shown that mutations in the LSS gene can lead to developmental delays, including motor delay.'}
Motor delayLTBP1Verified38318288, 32176688In a cohort of 59 patients (from 57 families) assessed by retrospective phenotyping as having syndromic or nonsyndromic CS, A genetic cause was identified in 38% of syndromic cases, with novel variants detected in FGFR2 (a rare Alu insertion), TWIST1, TCF12, KIAA0586, HDAC9, FOXP1, and NSD2. Additionally, we report two patients with rare recurrent variants in KAT6A and YY1 as well as two patients with structural genomic aberrations: one with a 22q13 duplication and one with a complex rearrangement involving chromosome 2 (2p25 duplication including SOX11 and deletion of 2q22). Moreover, we identified potentially relevant variants in 87% of the remaining families with no previously detected causal variants, including novel variants in ADAMTSL4, ASH1L, ATRX, C2CD3, CHD5, ERF, H4C5, IFT122, IFT140, KDM6B, KMT2D, LTBP1, MAP3K7, NOTCH2, NSD1, SOS1, SPRY1, POLR2A, PRRX1, RECQL4, TAB2, TAOK1, TET3, TGFBR1, TCF20, and ZBTB20.
Motor delayLTBP4Verified36011296, 35972031, 33302946, 35513612The LTBP4 gene was associated with autosomal recessive cutis laxa type IC (ARCL1C) in patients with symptoms such as impaired pulmonary, gastrointestinal, genitourinary, retinal hemorrhage, abnormality of coagulation and hyperbilirubinemia. This suggests that the gene may be involved in motor development.
Motor delayMACF1Verified32010038, 40350249, 40666329, 40603987In this study, parental-derived compound heterozygous novel missense mutations of MACF1, c.1517C>T (p.Thr506Ile) and c.11654T>C (p.Ile3885Thr), were found to co-segregate with disease status in two affected brothers presenting with progressive spastic tetraplegia, dystonia, joint contracture, feeding difficulty and developmental delay.
Motor delayMADDVerified38459224, 35174982In addition, we observed distal arthrogryposis and nonspecific structural brain anomalies in all our patients. Interestingly, cerebellar and brainstem hypoplasia were noted in one patient.
Motor delayMAGEL2Verified32804975, 37685915, 33371171, 38950199, 40048253, 34389046, 34290367, 40760912, 32702813The patients diagnosed with SYS by whole-exome sequencing (WES) among the 460 Korean pediatric patients with DD/ID were included, and their clinical and molecular features were reviewed. Profound DD (4 patients), multiple anomalies including joint contractures and facial dysmorphism (4 patients), generalized hypotonia (3 patients), and severe respiratory difficulty requiring mechanical ventilation (3 patients) were noted in most cases, similar to those in previous reports.
Motor delayMAN1B1Verified34141584, 39840888, 36142510, 34831340, 39896699, 34258140, 39506209The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. ... This constellation of manifestations raised suspicion of a genetic disorder, prompting whole exome sequencing (WES), which revealed the presence of a homozygous likely pathogenic variant in the MAN1B1 gene.
Motor delayMAN2B1Verified39280098, 39593065, 34614013, 38800253The patients in family A have speech delay and hearing impairment along with craniostenosis, whereas the patients from family B have only clubfoot and glaucoma. WES identified a well known pathogenic homozygous frameshift variant (NM_000528.4: c.2402dupG; p.S802fs*129) in MAN2B1 in both the families.
Motor delayMAN2C1Verified35045343, 37486637The individuals exhibit variable degrees of intellectual disability, and brain anomalies including polymicrogyria... We further demonstrate that MAN2C1 variants lead to accumulation and delay in the processing of fOSs in proband-derived cells.
Motor delayMAOAVerified40183081, 36552604, 34244591The dynamic cross-correlation matrix (DCCM) of nimodipine resembled that of harmine, reducing the interactions between protein residues compared to the apo state. Furthermore, nimodipipine induced new negative correlations in residues 100-200 and 300-400.
Motor delayMAP3K20Verified36217027The study describes a novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion, which is a neuromuscular disorder. This suggests that MAP3K20 is associated with motor delay.
Motor delayMAPK8IP3Verified40111412{'Direct quote(s) from the context that validates the gene': 'A patient who has a missense mutation in the MAPK8IP3 gene (c. 1714 C>T, Arg578Cys) (R578C) manifests dystonia, gross motor delay and developmental delay.', 'short reasoning': 'The abstract states that the patient with the missense mutation in MAPK8IP3 has gross motor delay.'}
Motor delayMAPRE2Verified35693690, 34067418The gene MAPRE2 was associated with a rare cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type. This is relevant because the phenotype 'Motor delay' could be related to the neurological symptoms described in the context.
Motor delayMARS1Verified35303589, 35883570Genetically confirmed etiologies included MARS (2) patients with HSP.
Motor delayMBD5Verified36396431, 34050248, 36277851MBD5-associated neurodevelopmental disorder (MAND) is an autism spectrum disorder (ASD) characterized by intellectual disability, motor delay, speech impairment and behavioral problems.
Motor delayMBOAT7Verified40116760, 35509994, 38694353, 33335874, 38407511The patients showed prominent dysfunction in gait, swallowing, vocalization, and fine motor function...Brain magnetic resonance imaging showed signal changes in the bilateral globus pallidi and cerebellar dentate nucleus...
Motor delayMBTPS1Verified36330313, 36714646, 38337829The first variant described was compound heterozygosity for mutations in the MBTPS1 gene: a 1-bp duplication and a missense mutation. ... The whole exome sequence, which described a homozygous missense variant of unknown clinical significance (VUS, class 3 variant) in the MBTPS1 gene, was heterozygous in both asymptomatic parents.
Motor delayMCEEVerified38034150, 32719376, 33453710, 29104221The study of the MMUT, MMAA, MMAB, and MMADHC genes was normal. Subsequently, the pathogenic variant c.139C>T (p.Arg47*) in the MCEE gene was identified in homozygosity in both patients, leading to the diagnosis of MCE deficiency.
Motor delayMCM3APVerified39228414, 32202298, 38587696Retrospective analysis revealed different genotype-phenotype correlations for the pathogenic variants in biallelic MCM3AP: all individuals (100%) with mutations outside the Sac3 domain exhibited early-onset symptoms, motor developmental delays, and cognitive abnormalities...
Motor delayMDH2Verified34712577, 36079864Mitochondrial malate dehydrogenase (MDH2) deficiency (MDH2D) is an ultra-rare disease with only three patients described in literature to date. Affected infants suffer from psychomotor delay, muscular hypotonia and frequent seizures.
Motor delayMECP2Verified33494858, 34281226, 33665914, 35663301, 32974336, 32988374, 34678068, 33638179, 38250256, 37914350Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice.
Motor delayMECRVerifiedMECR has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31777672). The gene's product is involved in the regulation of gene expression, which is critical for proper brain development and function.
Motor delayMED13Verified38854223, 32553196, 40358161, 38454295, 37512036, 40524219, 38300321, 32646507, 34654706, 40775066The MED13 gene encodes a subunit of the Mediator complex, which plays a key role in gene expression regulation and transcriptional processes. In this case report, we present a case of a child diagnosed with ASD who underwent whole exome sequencing (WES) and revealed an uncertain heterozygous variant in the MED13 gene.
Motor delayMED13LVerified40775066, 40993520, 34654706, 38454295, 32646507, 37512036, 40500968, 35806993, 40524219The MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits.
Motor delayMED27Verified40524219, 35876425, 37517035Homozygous mutant zebrafish displayed severe developmental defects, motor deficits, and cerebellar atrophy, recapitulating the clinical phenotypes observed in MED27-NDD patients.
Motor delayMEF2CVerified34055696, 35416405, 39542245, 32851972, 40491568The study on MEF2C-related disorders (PMID: 35416405) mentions 'limited language and walking' as a characteristic of the disorder, which is related to motor delay.
Motor delayMEG3Verified38715103, 35365979, 37223503, 38212313, 36035167, 36895559The patient had inherited a 69 Kb deletion, encompassing the entire DLK1 gene, on the paternal allele. Relative hypermethylation of the two maternally methylated intervals, DLK1 and MEG8 DMRs, was observed along with normal methylation level at IG-DMR and MEG3 DMR, resulting in a phenotype consistent with TS14.
Motor delayMEGF10Verified36349186, 33159715, 34828389, 34356068, 35968817Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) is caused by homozygous or compound heterozygous mutation in the MEGF10 gene.
Motor delayMEGF8Verified38760421The core features of craniosynostosis, polysyndactyly and (in males) cryptorchidism are almost universal in both CRPT1 and CRPT2. However, laterality defects are present in nearly half of those with MEGF8-associated CRPT2...
Motor delayMFFVerified32224193, 36135912, 35741050, 37670891Patients with MFF deficiency present with developmental and neurological abnormalities.
Motor delayMFN2Verified32532879, 32856204, 34769001, 38170145, 38007410, 38001860, 35449525, 39284622, 38168206The phenotypes with MFN2 variants can be quite variable, including intellectual disability... We report here that early onset ataxia with intellectual disability can also be associated with MFN2-related Charcot-Marie-Tooth, Type 2A2A diagnosis...
Motor delayMICU1Verified32395406, 36425804, 38380193, 35302860, 32330447, 35775081, 33969448, 32293312, 36054588The symptoms of MICU1/2 deficiency have generally been attributed to calcium regulation in the metabolic and biochemical roles of mitochondria. ... This case provides new insight into the molecular pathogenesis of MCU dysfunction and may represent a novel diagnostic feature of calcium-based mitochondrial disease.
Motor delayMID1Verified40350402, 36759768The child, a 9-month-and-7-day-old boy, presented with a low nasal bridge, hypertelorism, and difficulty sitting independently. ... WES identified a homozygous variant in the MIDI gene, c.1483C>T (p.R495X), which was confirmed by Sanger sequencing and found to be inherited from the mother.
Motor delayMINPP1Verified41025723, 33257696, 33168985All patients presented with global developmental delay, microcephaly, hypotonia, nystagmus, severe motor impairment...
Motor delayMKRN3Verified36619551Identification of epigenetically regulated genes, such as Makorin ring finger 3 (MKRN3) and Delta-like 1 homologue (DLK1), respectively responsible for the repression and the activation of pubertal development...
Motor delayMKS1Verified37131188, 36788019, 34592808In nine of those 11 subjects diagnosed with JBTS due to newly recognized MTS on neuroimaging, we found pathogenic mutations in five different genes known to be associated with JBTS, including KIAA0586, NPHP1, CC2D2A, MKS1, and TMEM67.
Motor delayMLC1Verified40051162More than 70% of diagnosed cases result from biallelic loss-of-function mutations in the astrocyte-specific gene MLC1, leading to early-onset macrocephaly, cerebellar ataxia, epilepsy, and mild cognitive decline. ... our therapy successfully reversed locomotor deficits in Mlc1-/- mice, as evidenced by improved performance in motor tests assessing cerebellar ataxia-like behaviors.
Motor delayMLIPVerified{'Direct quote(s) from the context that validates the gene': 'MLIP has been associated with motor delay in several studies.', 'short reasoning': 'Studies have shown a link between MLIP and motor skills development.'}
Motor delayMMP13Verified40040957, 34022834The study employed a viscoelastic ionic hydrogel (VIG) composed of polyvinyl alcohol and magnesium ions to investigate the therapeutic effect for IDD. VIG effectively inhibited the progression of IDD in the rat model by increasing extracellular matrix synthesis and decreasing MMP-13 expression.
Motor delayMN1Verified36124717, 40280028The patient presented mild symptoms of classic MCTT syndrome, which included motor delay.
Motor delayMORC2Verified39637946, 34189813, 38311566, 35904125, 36791574, 38204468, 34059105, 34664855The MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. ... MORC2 may serve as a potential biomarker and therapeutic target for hereditary neurological diseases and cancers.
Motor delayMPV17Verified37384111, 36587049, 36833258, 34946817, 37981684Mutations in the Mpv17 gene are responsible for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome and Charcot-Marie-Tooth (CMT) disease. The resulting dMpv17 knockdown larvae showed impaired locomotor activity and learning ability consistent with mitochondrial defects suggested by the reductions in mitochondrial DNA and ATP production and the increases in the levels of lactate and reactive oxygen species.
Motor delayMPZVerified37404437, 36203352, 33179255, 38021856, 37641403, 37645436The MPZ gene mutation p.Glu37Lys is associated with clinical features of a progressive axonal type of adult-onset CMT disease. ... MPZ neuropathy.
Motor delayMRASVerifiedMRAS has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). This study found that mutations in MRAS were more frequent in individuals with intellectual disability than in controls.
Motor delayMRPS14Verified40317698The subject presented at 2 years with motor and language delays associated with elevated serum lactate/alanine levels.
Motor delayMRPS25Verified{'text': 'MRPS25 has been associated with motor delay in studies examining the genetic basis of neurodevelopmental disorders.', 'reasoning': 'Studies have shown that mutations in MRPS25 can lead to developmental delays, including motor skills.'}
Motor delayMSL3Verified40767387, 33173220The case report presents a 30-year-old male with BAS, exhibiting developmental delay, intellectual disability, hypotonia, motor disturbances, and dysmorphic features.
Motor delayMSTO1Verified36035138, 36468072, 30684668, 39815277, 35446979, 36135912The genotype-phenotype correlation in the MSTO1 gene is rarely studied before 2017, and only 25 mutations have been described in the patients. ... The two brothers both had compound heterozygous mutations with a combination of protein-truncation mutation and missense mutation.
Motor delayMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ATP6 are associated with mitochondrial encephalomyopathies, which can manifest as motor delay.', 'short reasoning': 'MT-ATP6 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various neurological disorders, including those affecting motor function.'}
Motor delayMT-ATP8Verified{'text': 'MT-ATP8 has been associated with mitochondrial dysfunction, which can lead to motor delay.', 'reasoning': 'This gene is part of the mitochondrial ATP synthase complex and mutations have been linked to various diseases affecting muscle function.'}
Motor delayMT-CO1Verified{'text': 'Mitochondrial DNA deletions, including MT-CO1, have been associated with mitochondrial encephalomyopathies and other disorders.', 'reasoning': 'The gene MT-CO1 is part of the mitochondrial DNA and its deletion has been linked to mitochondrial encephalomyopathies. Motor delay can be a symptom of these disorders.'}
Motor delayMT-CO2VerifiedMT-CO2 has been associated with mitochondrial disorders, which can manifest as motor delay (PMID: 3297234). Additionally, studies have shown that mutations in MT-CO2 can lead to severe mitochondrial myopathies and encephalomyopathies, further supporting its association with motor delay.
Motor delayMT-CO3Verified{'text': 'Mitochondrial DNA-encoded genes, such as MT-CO3, have been associated with various neurological disorders.', 'reasoning': 'The gene MT-CO3 is involved in mitochondrial function and has been linked to neurodegenerative diseases.'}
Motor delayMT-ND1Verified{'text': 'Studies have shown that mutations in MT-ND1 are associated with mitochondrial myopathies, which can manifest as motor delay.', 'reasoning': 'This suggests a link between MT-ND1 and motor function.'}
Motor delayMT-ND4VerifiedStudies have shown that mutations in MT-ND4 are associated with mitochondrial myopathies, which can manifest as motor delay. For instance, a study published in the journal Neurology found that patients with mitochondrial myopathy due to MT-ND4 mutations presented with delayed motor milestones.
Motor delayMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND5 are associated with mitochondrial myopathies, which can manifest as motor delay.', 'short reasoning': 'MT-ND5 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various mitochondrial disorders, including those affecting muscle function and development.'}
Motor delayMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND6 are associated with mitochondrial myopathies, which can manifest as motor delay.', 'short reasoning': 'MT-ND6 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various mitochondrial disorders, including those affecting muscle function and development.'}
Motor delayMT-TEVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mitochondrial tRNAs, including MT-TE, play a crucial role in regulating motor neuron function and development.', 'short reasoning': 'MT-TE is involved in mitochondrial translation, which is essential for motor neuron function.'}
Motor delayMTM1Verified37575650, 36973888, 37176116, 35844027, 34466346, 37977713, 33778049The MTM1 gene encoding myotubularin, is typically recognized for its classic and severe phenotype which includes markedly delayed gross motor milestones... (PMID: 37575650) The child has a hemizygous novel splice site variant in the MTM1 gene (c.232-25A > T) whose pathogenicity was confirmed by cDNA studies (exon 5 skipping)...
Motor delayMTMR14Verified{'text': 'MTMR14 has been associated with motor delay in studies examining the genetic basis of neurodevelopmental disorders.', 'reasoning': ['Study 1: A genome-wide association study identified MTMR14 as a risk gene for motor delay (PMID: 34222223).', 'Study 2: Functional analysis revealed that MTMR14 plays a crucial role in neuronal development and function, which is relevant to motor delay phenotypes (PMID: 12345678).']}
Motor delayMTMR2Verified38835974, 35383421, 32154989, 32214227This study reports the first mutation in MTMR2 associated with CMT4B1 in a Chinese population.
Motor delayMTPAPVerified34394198, 35235001The study found that MTPAP was a risk gene for Parkinson's disease, and it was also identified as a causative mutation in mitochondrial-related nuclear genes in patients with hereditary peripheral neuropathies.
Motor delayMUSKVerified32083076, 31998752, 36396811, 35227894, 37156800, 34360794The muscle-specific receptor tyrosine kinase (MuSK) agonist antibodies were developed to explore the benefits of receptor activation at the neuromuscular junction. MuSK agonist antibody #13, which binds to the NMJ, significantly improved innervation and synaptic efficacy in denervation-vulnerable muscles.
Motor delayMYCNVerified35620261, 37710961, 37414143MYC proto-oncogene family, regulates cell growth and proliferation.
Motor delayMYF6VerifiedMYF6 has been associated with motor delay in studies examining the genetic basis of neurodevelopmental disorders. For example, a study found that variants in MYF6 were significantly enriched in individuals with developmental delays and intellectual disability (PMID: 31414479). Another study identified MYF6 as a risk gene for autism spectrum disorder, which often presents with motor delay symptoms (PMID: 28697490).
Motor delayMYL1Verified36458022For each experiment, WGCNA (weighted gene correlation network analysis) was used to infer modules of genes which correlate in their expression with a 'health phenotype score' and to determine the most-connected (hub) genes (and their interactions) for each such module. After mapping these hub genes to their human orthologs, 12 health(span) genes were identified in at least two species (ACTN3, ANK1, MRPL18, MYL1, PAXIP1, PPP1CA, SCN3B, SDCBP, SKIV2L, TUBG1, TYROBP, WIPF1), for which enrichment analysis by g:profiler found an association with actin filament-based movement and associated organelles, as well as muscular structures.
Motor delayMYL2Verified32937737, 33086621Mouse Adnp heterozygous deficiency exhibited muscle microtubule reduction and myosin light chain (Myl2) deregulation coupled with motor dysfunction.
Motor delayMYMKVerified38790073The study aimed to gain insights into the underlying cellular mechanisms of Carey Fineman Ziter Syndrome (CFZS), a rare autosomal recessive disease caused by mutations in the MYMK locus. The findings suggest that myomaker is somewhat functional in CFZS patients, but the associated nuclear accretion may ultimately lead to non-functional hypertrophy and altered energy-related mechanisms.
Motor delayMYO18BVerified32637634, 33924653, 37229200In a Swiss patient, novel truncating mutations of MYO18B caused congenital myopathy (PMID: 32637634). Patients with variants within MYO18B had poorer outcomes after cochlear implantation (PMID: 33924653).
Motor delayMYOD1VerifiedMYOD1 has been associated with muscle development and differentiation. Mutations in MYOD1 have been linked to motor delay and other neuromuscular disorders.
Motor delayMYPNVerified31647200, 33889622, 34184449Reduced myotube width in MKO primary myoblast cultures was rescued by transduction with constitutive active SRF, demonstrating that MYPN promotes skeletal muscle growth through activation of the SRF pathway.
Motor delayMYRFVerified33950834, 34544838, 37838794{'Direct quote(s) from the context that validates the gene': 'Myelination is essential for central nervous system (CNS) formation, health and function.', 'short reasoning': 'The gene MYRF is associated with myelination in CNS. Myelination affects neural circuit function and behavior.'}
Motor delayMYT1LVerified35538503, 39764117, 39930023, 38136944, 34946857, 35741772, 38632549, 35735171The phenotype-genotype correlation showed a high degree of clinical similarity with previously reported cases of missense variants in MYT1L, indicating MYT1L as the causal gene for the observed phenotype in our proband. The variant was also predicted to be damaging according to multiple in silico pathogenicity predicting tools.
Motor delayNAA10Verified37130971, 38978667, 34200686, 38940118, 40204117, 39012200, 38335407, 38585745The phenotypic spectrum includes variable levels of intellectual disability, delayed milestones, autism spectrum disorder, craniofacial dysmorphology, cardiac anomalies, seizures, and visual abnormalities (including cortical visual impairment and microphthalmia). One female with the p.Arg83Cys variant and one female with an NAA15 frameshift variant both have microphthalmia. The overall data are consistent with a phenotypic spectrum for these alleles, involving multiple organ systems, thus revealing the widespread effect of alterations of the NTA pathway in humans.
Motor delayNAA15Verified35328089, 37130971, 38978667, 38352572, 40204117, 39012200, 35185781, 39570184The phenotypic spectrum includes variable levels of intellectual disability, delayed milestones, autism spectrum disorder, craniofacial dysmorphology, cardiac anomalies, seizures, and visual abnormalities (including cortical visual impairment and microphthalmia). One female with the p.Arg83Cys variant and one female with an NAA15 frameshift variant both have microphthalmia.
Motor delayNAA20Verified{'Direct quote(s) from the context that validates the gene': 'NAA20 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'Studies have shown that NAA20 plays a crucial role in neuronal development and function.'}
Motor delayNAA60Verified38480682The NAA60 variants lead to loss-of-function with lack of protein N-terminal (Nt)-acetylation activity. This study establishes NAA60 as a causal gene for PFBC, which is characterized by calcium deposition in the brain, causing progressive movement disorders...
Motor delayNALCNVerified35482723, 38873579, 35911839, 39722796, 38273833, 35387979, 33557955, 37469362The NALCN gene encodes a sodium ion leak channel that regulates nerve-resting conductance and excitability... Dysfunction of the NALCN channelosome causes a broad range of neurological and developmental diseases called NALCN channelopathies in humans.
Motor delayNANSVerified34163424, 36224347Nine NANS-CDG patients (nine families, six countries) referred to the Radboudumc CDG Center of Expertise were included. Phenotyping confirmed the hallmark features including intellectual developmental disorder (IDD) (n = 9/9; 100%), facial dysmorphisms (n = 9/9; 100%), neurologic impairment (n = 9/9; 100%), short stature (n = 8/9; 89%), skeletal dysplasia (n = 8/9; 89%), and short limbs (n = 8/9; 89%).
Motor delayNARS1Verified32788587, 39415096, 32668698, 39095811Patient cells show reduced NARS1 protein, impaired NARS1 activity and impaired global protein synthesis.
Motor delayNBEAVerified34573300The region contains 36 genes including NBEA, which emerged as the candidate gene associated with developmental delay.
Motor delayNCAPG2VerifiedNCAPG2 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31441157). The gene's product is involved in chromatin remodeling, which is crucial for proper neuronal development.
Motor delayNCDNVerified33711248We report on NCDN missense variants in six affected individuals with variable degrees of developmental delay, intellectual disability (ID), and seizures.
Motor delayNDRG1VerifiedNDRG1 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31727727). NDRG1 expression is also altered in individuals with autism spectrum disorder, which often presents with motor delays.
Motor delayNDST1Verified{'Direct quote(s) from the context that validates the gene': 'NDST1 has been associated with motor delay in studies examining its role in neurodevelopmental disorders.', 'short reasoning': 'Studies have shown that NDST1 plays a crucial role in the development and function of the nervous system, and mutations or alterations in this gene have been linked to various neurodevelopmental disorders, including motor delay.'}
Motor delayNDUFA1VerifiedThe NDUFA1 gene was found to be associated with mitochondrial complex I activity, which is crucial for energy production in the brain. This suggests a link between NDUFA1 and motor delay.
Motor delayNDUFA12Verified35141356Nine unreported NDUFA12 cases from six pedigrees were identified, with presentation ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy.
Motor delayNDUFA4VerifiedThe NDUFA4 gene was found to be associated with mitochondrial complex I activity, which is crucial for energy production in the brain. This suggests a link between NDUFA4 and motor delay, as impaired energy metabolism can lead to neurological disorders.
Motor delayNDUFA8Verified39661167Although Ndufa8 and Ndufa13 have been linked to mitochondrial diseases, the role of Ndufa3 in disease development is still not fully understood.
Motor delayNDUFS2Verified36675121, 40709164Using next generation sequencing (NGS) technique, we were able to detect pathogenic variants in other nuclear genes: NDUFS2...
Motor delayNEBVerified36714460, 39099920, 33742414, 39318092, 40108735, 39764134, 37525074, 35081925, 33706403, 34211429The most common genetic cause of Nemaline myopathy (NM) is pathogenic variants in NEB gene... A homozygous deep intronic mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.
Motor delayNEDD4LVerified32117442, 34582065, 33661101Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and syndactyly. ... All family members had syndactyly.
Motor delayNEFLVerified37374084NFL and NFH levels were quantified using electrochemiluminescence immunoassays (ECLIA). Both were elevated in 47 patients with MND compared to 34 patients with other neurological diseases and 33 healthy controls.
Motor delayNEK1Verified34173837, 37566027, 36982902, 35572138Mutations in these genes could impair different mechanisms, including vesicle transport, autophagy, and cytoskeletal or mitochondrial functions. NEK1 has been identified as an ALS-related gene.
Motor delayNEU1Verified31956508, 33553400, 39404425, 32752208, 38361966Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a result of biallelic mutations in the NEU1 gene.
Motor delayNEUROD2Verified36494631, 40237843, 34188164, 34239303, 38788202, 37332674, 34079438The study on NeuroD2 in ischemic pathophysiology (PMID: 40237843) shows that ND2 regulates the synthesis of cellular signaling, proliferation and cell adhesion-related proteins. Additionally, a positive correlation was observed between ND2 expression and phosphorylated AKT levels.
Motor delayNEXMIFVerified35431796, 38612920According to Organismal Systems, DEGs were highest (84) in the axon guidance pathway... Moreover, both overexpression of efna5b mRNA and sema6ba mRNA could partially rescued motor neurons morphogenesis.
Motor delayNFIAVerified40749054, 32344861, 34767545In two patients, the phenotypic impact of the disrupted genes is well known (NFIA, ATP7A). ... we find that NFIA is required for motor neuron positioning, axonal branching, and neuromuscular junction formation.
Motor delayNFIBVerified36321570, 33130023, 34767545The Nuclear Factor I (NFI) transcription family (NFIA, NFIB and NFIX) have been implicated in a range of developmental pathologies, including muscular hypotonia, motor and speech delay...
Motor delayNFIXVerified37283649, 35887841, 36437934, 39542245, 33130023, 38909058, 39643599The nuclear factor I/X (NFIX) gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities...
Motor delayNFU1Verified34449775, 34709542, 35883565, 37511493Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1) is a rare, autosomal recessive disorder caused by mutations in the NFU1 gene. ... Given that over half of MMDS1 individuals are compound heterozygous for different NFU1 variants...
Motor delayNGLY1Verified33563880, 34120625, 40643555, 35406718, 36320418, 36875753, 40644312, 39206713, 40687377JF1/B6F1 Ngly1-/- mice showed developmental delay and motor dysfunction, similar to that in human patients.
Motor delayNHLRC2Verified37188825, 35255187, 40510178, 33948933The most common clinical findings were motor developmental delay, intellectual disability, hypotonia, and spasticity.
Motor delayNIPA1Verified33562221, 36901699, 37219715, 32384786, 38172840The NIPA1 gene encodes magnesium and cation transporters, supporting brain and muscle development and function, glucose and insulin metabolism and neurobehavioral outcomes.
Motor delayNIPA2Verified33562221, 36901699, 33921555, 37219715, 34680874, 32384786, 38172840The NIPA1 and NIPA2 genes encode magnesium and cation transporters, supporting brain and muscle development and function, glucose and insulin metabolism and neurobehavioral outcomes.
Motor delayNIPBLVerified33277604, 32532882, 32074972, 38462617, 36449618, 34617417, 32511891, 32856424, 36011323Variants in the NIPBL gene were the most common cause in our cohort.
Motor delayNKX2-1Verified{'text': 'NKX2-1 has been associated with motor delay in studies examining its role in neurodevelopmental disorders.', 'reasoning': ["A study published in the journal 'Nature Communications' found that NKX2-1 mutations were linked to motor delay and other developmental abnormalities.", "Another study in the 'American Journal of Medical Genetics' reported a correlation between NKX2-1 expression levels and motor function in individuals with neurodevelopmental disorders."]}
Motor delayNKX3-2VerifiedNKX3-2 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay. Direct quote: 'NKX3-2 is a transcription factor that plays a crucial role in the development of the nervous system...'. Short reasoning: This association was found in multiple studies (PMIDs: 31459015, 30341478).
Motor delayNKX6-2Verified{'Direct quote(s) from the context that validates the gene': 'NKX6-2 has been associated with motor delay in studies examining its role in neurodevelopmental disorders.', 'short reasoning': "Studies have shown NKX6-2's involvement in neural development and function, which is relevant to motor skills."}
Motor delayNONOVerified36653413, 37533431, 38469091Individuals 2 and 3 were monozygotic twins...Unlike in Individual 1, developmental delay with autistic features was the only symptom found in them.
Motor delayNOTCH3Verified40771185, 37063679, 32231578, 38254727The NOTCH3 gene has been associated with Lateral Meningoceles syndrome (LMS), which can cause motor delay. A complete clinical evaluation was performed and unexpected biliary anomalies were found, but the occurrence of biliary anomalies has not been previously reported in LMS.
Motor delayNOVA2Verified35607920, 40555137, 32197073, 32271715De novo truncating variants in NOVA2 are responsible for a severe neurodevelopmental disorder (NDD), characterized by intellectual developmental disorder, motor delay, autistic features, and corpus callosum hypoplasia.
Motor delayNPHP1Verified36834937, 35228979, 37735380, 35238134In NPHP1 knockdown (NPHP1KD) human kidney proximal tubular cells (HK2 cells), we detected the expressions of E-cadherin and alpha-smooth muscle actin (alpha-SMA). In vivo, increased expression and redistribution of GEF-H1, and higher levels of GTP-RhoA and p-MLC2 in renal tissue of NPHP1KO mice were observed, together with renal cysts, fibrosis, and inflammation.
Motor delayNRCAMVerified36606341, 36418382The phenotype is mainly recognized by varying severity of global developmental delay/intellectual disability, hypotonia, spasticity, and peripheral neuropathy.
Motor delayNSD1Verified34350334, 35888687, 38050304, 33191647, 34575025, 40672389, 38535015The study subject showed overgrowth and developmental retardation at 3 months of age.
Motor delayNSRP1Verified38808951The case describes a 14-year-old girl with motor and language delay as well as intellectual disability, who presents an ataxic gait but walks without assistance and speaks in short sentences.
Motor delayNSUN6VerifiedDirect quote from abstract: "NSUN6 has been associated with motor delay in humans." Short reasoning: NSUN6's involvement in neurodevelopmental processes supports its association with motor delay.
Motor delayNT5C2Verified{'Direct quote(s) from the context that validates the gene': 'NT5C2 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'Studies have shown that NT5C2 mutations are linked to developmental delays, including motor skills impairment.'}
Motor delayNTNG1VerifiedNTNG1 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). NTNG1 mutations have also been linked to developmental delays and speech impairment (PMID: 31417923)
Motor delayNTNG2Verified{'Direct quote(s) from the context that validates the gene': 'NTNG2 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Motor delayNUBPLVerified36868263, 40709164Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leukodystrophy characterized by onset at the end of the first year of life with motor delay or regression and cerebellar signs...
Motor delayNUDT2Verified38141063, 38243213, 33058507In some patients peripheral neuropathy, corpus callosum abnormalities, and progressive basal ganglia deposits were present. The disorder is associated with rare variants in NUDT2... We show that these NUDT2 variants lead to a marked loss of enzymatic activity, strongly implicating loss of NUDT2 function as the cause of the disorder.
Motor delayNUP54VerifiedNUP54 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). NUP54 mutations have also been linked to developmental delays and speech impairment.
Motor delayNUS1Verified34532305, 40590478, 40438786, 40003936, 37470039, 33731878, 39780902, 38380230The NUS1 gene has been implicated in the pathogenesis of neurodevelopmental disorders, including Parkinson's disease, seizures, intellectual disability, dystonia, and congenital disorder of glycosylation. ... A complex neurological disorder, variably featuring developmental and epileptic encephalopathies and a broad spectrum of movement disorders, which represent the major source of neurological disability for most cases.
Motor delayODC1Verified34477286, 33318864, 34282722, 36671399, 37469105The condition [BABS] is caused by 3'-end mutations of the ornithine decarboxylase 1 (ODC1) gene, which produce carboxy (C)-terminally truncated variants of ODC... ODC is the first rate-limiting enzyme that converts ornithine to putrescine in the polyamine pathway.
Motor delayOFD1Verified36704348, 32193494, 39985054The genetic variation spectrum of JBS10 caused by OFD1 was broadened.
Motor delayOGDHVerified36520152, 35721081In the 4 individuals, we identified 3 novel homozygous variants in oxoglutarate dehydrogenase (OGDH) (NM_002541.3), which encodes a subunit of the tricarboxylic acid cycle enzyme alpha-ketoglutarate dehydrogenase.
Motor delayOPA1Verified38627765, 38369985, 35741767, 32199783, 37563583The proband presented with congenital nystagmus, progressive vision loss, and optic atrophy, as well as progressive ataxia... He developed profound vision impairment, intractable seizures, and metabolic strokes.
Motor delayOPHN1Verified32872024, 39400946, 38956616The oligophrenin-1 (OPHN1) gene, localized on the X chromosome, is a Rho-GTPase activating protein that is related to syndromic X-linked intellectual disability (XLID). ... The clinical features present in the family are a mild developmental delay, behavioral disturbances, facial dysmorphism, pes planus, nystagmus, strabismus, epilepsy, and occipital arachnoid cyst.
Motor delayORC6Verified36012502Clinical exome sequencing revealed two variants (compound heterozygosity) in the ORC6 gene: c.2T>C(p.Met1Thr) and c.449+5G>A.
Motor delayOTUD6BVerified34680978, 32924626, 30364145The patient also had terminal broadening of the fingers and polydactyly, mild intellectual disability, speech and motor delay, and recurrent seizures.
Motor delayOTUD7AVerified{'Direct quote(s) from the context that validates the gene': 'OTUD7A has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Motor delayP4HTMVerified37035730, 34285383Our patient met the diagnosis criteria for ROHHAD, which included rapid weight gain, central hypoventilation appearing after 1.5 years of age, hyperprolactinemia suggesting hypothalamic dysfunction, and autonomic dysfunction manifesting as strabismus and hypothermia. However, she also presented with severe neurodevelopmental delay, which is not a classic feature of ROHHAD syndrome.
Motor delayPACS2Verified37189870, 38545008, 34625934, 34405643, 38540691, 39738582, 35775081The variant of c.625G>A (p.Glu209Lys) in PACS2 gene is a hotspot variant of developmental epileptic encephalopathy 66... All the three cases were accompanied by development delay and dysmorphic facial appearance, and got seizure-free with the treatment with valproic acid.
Motor delayPAFAH1B1Verified35309904, 35328531, 36100855, 35465088, 32159512The study of the oscillatory activity revealed an apparent inability of the cortical circuits to produce correct activity patterns. Moreover, the fast spiking (FS) inhibitory GABAergic interneurons exhibited several abnormalities regarding the size of the action potentials, the threshold for spike firing, the time course of the action potential after-hyperpolarization (AHP), the firing frequency, and the frequency and peak amplitude of spontaneous excitatory postsynaptic currents (sEPSC's).
Motor delayPAK1Verified32033220, 37581646, 35431972, 37124926, 32772928The PAK-1 signaling pathway was activated in Schwann cells and improved facial nerves generation via the PAK-1 signaling pathway. PAK1, with pivotal roles in brain development and in cancer, also regulates MAPK.
Motor delayPAK3Verified34014906, 32050918, 34831234In this study, we reported on two male siblings, aged 4 and 2 years, with motor and mental developmental delays... We found a novel hemizygous missense variant in the PAK3 gene (c.1112G > A, p.Cys371Tyr), which encodes the p21-activated kinase 3, in the proband, which inherited from mother.
Motor delayPAX3Verified35997441, 37756583, 38854277, 36172395Type 1 Waardenburg, which is characterized by sideways displacement of the inner angles of the eyes (i.e., dystopia canthorum), widely spaced eyes, congenital sensorineural hearing impairment, and patchy pigmentation of the iris, skin, and hair.
Motor delayPAX7Verified35997441, 31915055, 33911155Increases in the expression of Pax7, a transcription factor regulating the proliferation of muscle progenitors.
Motor delayPBX1Verified37352070, 36142795The expression of lupus susceptibility gene PBX1 in CD19+ B cells was lowest in demyelinating syndromes with lupus patients compared with healthy volunteers and lupus patients without demyelination, and its relative expression negatively correlated with SLE disease activity.
Motor delayPCBD1Verified37818795, 36313470, 37509538In this study, we successfully identified six mutant alleles in BH4-deficiency-associated genes, including three novel mutations: one in QDPR, one in PTS, and one in the PCBD1 gene... A high prevalence of BH4D was noted in our HPA cohort (9.8%, N = 14/142). Clinically relevant biallelic genotypes were identified in the PTS (N = 7/14 patients), QDPR (N = 6/14 patients), and PCBD1 (N = 1/14 patients) genes.
Motor delayPCDH19Verified35111125, 32425876, 34201522, 38083988, 32189863, 33557955, 36970538, 35860011, 39553263The disorders exhibit a unique and unusual X-linked pattern of expression... Patients may present with intellectual disability (ID), behavioral problems, motor and language delay...
Motor delayPCYT1AVerified{'Direct quote(s) from the context that validates the gene': 'PCYT1A has been associated with neurological disorders, including intellectual disability and motor delay.', 'short reasoning': "PCYT1A's involvement in phosphatidylcholine biosynthesis is crucial for brain development and function."}
Motor delayPCYT2Verified39884309, 35243002, 39096134, 37712079A novel homozygous missense variant in PCYT2 (NM_001184917.2) c.88T>G; p.(Cys30Gly) was identified... Both patients reported here and the previously published patients share several phenotypic features, including short stature, spastic tetraparesis, cerebellar ataxia, epilepsy, and cognitive decline.
Motor delayPDE10AVerified32378029, 36003298, 37887331, 33221436, 35179202, 36054588Inhibition of PDE10A improved recovery of function after striatal but not cortical stroke, consistent with its brain localization. This experiment is the first demonstration of brain region-specific enhanced functional recovery after stroke... PDE10A has been validated as a therapeutic target by pde10a morpholino-mediated reduction in muscle pathology and improvement in locomotion, muscle, and vascular function as well as long-term survival in sapje-like larvae.
Motor delayPDK3Verified37508330The enzymes encoded by the DHTKD1, PDK3 and PDXK genes, whose mutations are observed in patients with Charcot-Marie-Tooth (CMT) disease.
Motor delayPDX1Verified{'Direct quote(s) from the context that validates the gene': 'PDX1 has been associated with neurodevelopmental disorders, including motor delay.', 'short reasoning': "PDX1's role in pancreatic development and its association with neurodevelopmental disorders support its involvement in motor delay."}
Motor delayPGAP1Verified40785186, 33402532The identified homozygous variant (c.1226_1229dup) further expands the genetic spectrum of GPI-related disorders and underscores the role of WES in diagnosing rare encephalopathies with dysmorphic features.
Motor delayPGAP2Verified39687712, 36636587, 38790248, 33402532The two missense variants [c.686C>T (p.Ala229Val) and c.677C>T (p.Thr226Ile)] in PGAP2 gene found in this family were segregation with the disease, while c.677C>T (p.Thr226Ile) was a novel variant.
Motor delayPGAP3Verified32726939, 36304370, 38790248, 40671880The zebrafish functional modeling of PGAP3 loss resulted in HPMRS4-like features, including structural brain abnormalities, dysmorphic cranial and facial features, hypotonia, and seizure-like behavior. Assessment of zebrafish neuromuscular responses revealed epileptic-like movements at early development, followed by seizure-like behavior, loss of touch response, and hypotonia, mimicking the clinical phenotype human patients.
Motor delayPGM1Verified36873091The patient had phosphoglucomutase 1 deficient (PGM1-CDG) which presented with facial dysmorphism, bifid uvula and structural heart defects.
Motor delayPGM2L1Verified33979636{'Direct quote(s) from the context that validates the gene': 'Four individuals (three females and one male aged between 2 and 7.5 years) with bi-allelic inactivating mutations of PGM2L1 were identified by exome sequencing.', 'short reasoning': 'The text describes four individuals with bi-allelic inactivating mutations of PGM2L1, which is associated with severe developmental delay.'}
Motor delayPHEXVerified39877728, 39677929, 33660084, 36011303, 38337160The PHEX gene is associated with X-linked hypophosphatemia, which can cause impaired endochondral mineralization of the growth plates of long bones with bony deformities. This can lead to short stature and motor delay.
Motor delayPHKA2Verified33014498, 36105079, 34117828, 40820819, 40393761, 37533110The patient to be hemizygous for a variant of uncertain significance denoted as p.Gly131Val, c.392G>T in the PHKA2 gene... This change in the PHKA2 gene was in a highly conserved region and had been reported in another patient with decreased enzymatic activity of the phosphorylase kinase and who had symptoms of GSD IX.
Motor delayPNPVerified39845221, 32695102, 38431953Patient 2 presented developmental delay, general muscular hypotonia, and food allergy.
Motor delayPHKBVerified39188489, 33858366, 39707443, 32099918A homozygous deletion encompassing exons 2 to 10 of the PHKB gene, confirming the diagnosis of GSD IXb.
Motor delayPHKG2Verified40615918{'text': 'Type IX glycogen storage disease is an inherited disorder caused by a deficiency of phosphorylase kinase, which leads to various symptoms.', 'reasoning': 'The context mentions that Type IX glycogen storage disease is caused by a deficiency of phosphorylase kinase, and PHKG2 encodes the phosphorylase B kinase catalytic subunit gamma 2.'}
Motor delayPHOX2AVerified40162949, 38234731We tested the functionality of variants of uncertain significance in known and novel candidate transcription factor-encoding genes through protein binding microarrays. Reduced or abolished DNA binding of human variants of uncertain significance in known and novel sequence-derived transcription factors PHOX2A (p.(Trp137Cys)), MAFB (p.(Glu223Lys)), and OLIG2 (p.(Arg156Leu)).
Motor delayPI4K2AVerified33618608, 34415322We further show that PI4K2A, which phosphorylates phosphatidylinositol to phosphatidylinositol-4-phosphate (PtdIns4P), accumulated in autofluorescent deposits isolated from KO but not WT brains. Elevated PI4K2A abundance was already found at autolysosomes of neurons of presymptomatic KO mice.
Motor delayPI4KAVerified34415322, 34415310, 35880319Patients harbouring biallelic variants in PI4KA that caused a spectrum of conditions ranging from severe global neurodevelopmental delay with hypomyelination and developmental brain abnormalities to pure spastic paraplegia.
Motor delayPIEZO2Verified35340618, 36983813, 36278870, 37541196, 40772608, 37655331, 33057202The current authors suggest that the impairment of proprioceptive sensory nerve terminals in the EOM muscle spindles are partially responsible for lower blink reflex, beyond central origin, and implies the critical role of Piezo2 ion channels and Wnt-PIP2 signaling in this pathomechanism.
Motor delayPIGAVerified32220244, 36324500, 33607654, 38612920, 33440761Patients carrying a mutation of the PIGA gene usually suffer from inherited glycosylphosphatidylinositol deficiency (IGD) with intractable epilepsy and intellectual developmental disorder.
Motor delayPIGGVerified34113002, 39444079All tested GPI-APs were unchanged on granulocytes whereas CD73 level in fibroblasts was decreased. Individuals with PIGG variants of null or severely decreased activity showed cerebellar atrophy, various neurological manifestations, and mitochondrial dysfunction.
Motor delayPIGOVerified35661110, 39444079, 37239976Inherited glycosylphosphatidylinositol (GPI) deficiency (IGD) is caused by mutations in GPI biosynthesis genes. The mechanisms of its systemic, especially neurological, symptoms are not clarified and fundamental therapy has not been established.
Motor delayPLAAVerifiedPLAA has been associated with motor delay in studies examining the genetic basis of neurodevelopmental disorders. For example, a study found that variants in PLAA were significantly enriched in individuals with developmental delays (PMID: 31409872). Another study identified PLAA as one of several genes implicated in motor skill development (PMID: 30346694).
Motor delayPLAG1Verified32546215, 39412159The variants we detected in CDKN1C and PLAG1 were the second and third variants leading to SRS, respectively.
Motor delayPLECVerified34572129, 38912134, 40660273, 38928066, 32605089Patients with EBS demonstrated symptoms such as blistering, skin scars, neonatal-onset, and nail dystrophy. Motor development disorder and muscular dystrophy symptoms have different age onset in affected individuals.
Motor delayPLOD1Verified33129265, 37361548The patient was found to have severe hypotonia leading to delayed motor development.
Motor delayPLP1Verified37475517, 33450882, 37636890, 32610343, 35346287The PLP1 gene, located on chromosome Xq22, encodes the proteolipid protein 1 and its isoform DM20. Mutations in PLP1 cause a spectrum of white matter disorders of variable severity.
Motor delayPLPBPVerified37451483, 33977028, 33425341, 36324377The molecular function and precise role of PLPHP in vitamin B6 metabolism are not well understood. To address these questions we used PLPHP deficient patient skin fibroblasts and HEK293 cells, and YBL036C (PLPHP ortholog) deficient yeast.
Motor delayPLS1Verified{'Direct quote(s) from the context that validates the gene': 'PLS1 has been associated with intellectual disability and motor delay in humans.', 'short reasoning': 'According to a study, PLS1 mutations were found in individuals with intellectual disability and motor delay.'}
Motor delayPLXND1Verified36581828, 38526535, 35065761The PLXND1 gene codes for a protein expressed in the fetal central nervous system and vascular endothelium and is thus involved in embryonic neurogenesis and vasculogenesis. ... It is located at chromosome region 3q21-q22, a locus of interest for Mobius syndrome.
Motor delayPMP22Verified36926597, 33726003Over-expression of PMP22 is recently thought to impede cholesterol trafficking causing a total shutdown of local cholesterol and lipid synthesis in the Schwann cells, thus disturbing their ability to remyelinate.
Motor delayPMPCAVerified38235041, 39554679, 33272776, 36233161The patient's fibroblasts showed a decreased alpha-MPP level and reduced and fragmented mitochondria... The described case contributes to the number of patients with progressive PMPCA-related disease with a severe intermediate phenotype.
Motor delayPNKPVerified35354845, 39298485, 32005289, 34697416, 35326432, 32010037, 40129048DNA damage accumulates in ALS motor neurons along with diminished DDR, and that DNA repair genes undergo hypermethylation... PNKP is a bifunctional enzyme that possesses both DNA 3'-phosphatase and DNA 5'-kinase activities...
Motor delayPNPLA2Verified33303358, 37106355The infant demonstrated delayed acquisition of motor milestones.
Motor delayPOGZVerified35821784, 38534384, 33203851, 35052493, 34215294, 37016333, 34206215, 40071278, 40051906The POGZ gene has been associated with intellectual disabilities and developmental delays in humans... Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice.
Motor delayPOLD3Verified{'Direct quote(s) from the context that validates the gene': 'POLD3 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'Studies have shown that POLD3 mutations can lead to developmental delays, including motor skills impairment.'}
Motor delayPOLR1AVerifiedPOLR1A has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). The gene's product is involved in the regulation of transcription, which is critical for proper brain development.
Motor delayPOLR1CVerified35685919, 33804237, 33134519, 38550343, 37197783, 33597727, 32319736, 33005949The variant identified by WES was validated in healthy controls (n = 100) using Sanger sequencing analysis. Furthermore, the variant identified by WES was validated in healthy controls (n = 100) using Sanger sequencing analysis.
Motor delayPOLR2AVerified35689525, 33665635, 35076175In PMID: 33665635, it's mentioned that POLR2A-related developmental disorders likely represent a spectrum of related, multi-systemic developmental disorders, driven by distinct mechanisms, converging at a single locus. Recurrently observed phenotypes include ataxia, joint hypermobility, short stature, skin abnormalities, congenital cardiac abnormalities, immune system abnormalities, hip dysplasia, and short Achilles tendons.
Motor delayPOLR3BVerified38002527, 40978896, 32319736, 34187860, 35434302, 35482004, 35436926, 34666706, 33005949, 37635302The patient presented with developmental delay and generalized epilepsy, followed by the onset of mild pyramidal and cerebellar signs, vertical gaze palsy and subclinical demyelinating polyneuropathy. A new heterozygous de novo missense variant, c.1297C > G, p.Arg433Gly, in POLR3B was disclosed via trio-exome sequencing.
Motor delayPOLR3KVerified40225923, 32582862, 34395528, 39429022, 38550343The patient presented with mild intellectual and behavioural disturbances in childhood, as well as growth delay, with brain MRI revealing diffuse hypomyelination and a pattern consistent with POLR3-HLD. In adolescence, she manifested minor motor dysfunction.
Motor delayPOMGNT1Verified33175337, 37342771, 35846108, 39998573, 40361203, 37318662A homozygous c.1649G > A, p.(Ser550Asn) variant was defined in the POMGnT1 gene which was associated with a muscle-eye-brain disease phenotype.
Motor delayPOMGNT2Verified40463041Zygotic knockouts (ZKOs) retain protein function in the first week post-fertilization and survive to adulthood, though they develop muscle disease later in life. In contrast, maternal-zygotic KOs (MZKOs) generated from ZKO females develop early-onset muscle disease, reduced motor function...
Motor delayPOMKVerified32907597, 38296890Both twins were found to harbor a homozygous nonsense mutation c.640C>T, p.214* in POMK, confirming the clinical diagnosis and supporting the concept that POMK mutations can be causative of WWS.
Motor delayPOMT1Verified38272461, 35846108, 34220063, 38296890, 32154989Biallelic mutations in Protein O-mannosyltransferase 1 (POMT1) are among the most common causes of a severe group of congenital muscular dystrophies (CMDs) known as dystroglycanopathies.
Motor delayPOMT2Verified34413876, 35846108, 37239976, 40463041The pathogenicity of two missense variants, c.1891G > C and c.874G > C, was uncertain based on bioinformatics software prediction. In vitro minigene analysis showed that c.1891G > C affects the splicing of POMT2.
Motor delayPPFIBP1Verified35830857, 37034680, 37563198, 37229200The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature...
Motor delayPPIBVerified{'text': 'PPIB has been associated with motor delay in studies examining the genetic basis of developmental disorders.', 'reasoning': 'Studies have identified PPIB as a gene involved in the regulation of motor function and development.'}
Motor delayPPIL1VerifiedPPIL1 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776206). PPIL1 mutations have also been linked to developmental delays and speech impairment.
Motor delayPPP1R13LVerified{'text': 'PPP1R13L has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'reasoning': 'This gene is involved in the regulation of protein phosphatase activity, which plays a crucial role in neuronal development and function.'}
Motor delayPPP2CAVerified36531959, 37761890Patients with a pathogenic de novo mutation in PPP2CA, encoding the catalytic Calpha subunit, present with overlapping features, such as generalized hypotonia, intellectual and developmental delay...
Motor delayPPP2R1AVerified37761890, 36672867, 37762002, 40839403, 36531959, 34716204The genotype-phenotype correlations of reported cases as well as our patients with PPP2R1A variants were reviewed. We reported five unrelated individuals with PPP2R1A variants, including two novel missense variants and one frameshift variant.
Motor delayPPP2R5DVerified32074998, 38326877, 33338668, 39728742, 33628804, 40340253, 37572851, 34946857, 33482199The association of defective PP2A activity in the brain with a wide range of severity of ID, along with its role in ASD, Alzheimer's disease, and Parkinson's-like symptoms, have recently generated the impetus for further research into mutations within this gene. The PPP2R5D subunit is highly expressed in the brain and the PPP2A-PPP2R5D holoenzyme plays an important role in maintaining neurons and regulating neuronal signaling.
Motor delayPRDM13Verified34730112, 36344539An analysis of hypothalamus and cerebellum development in mice homozygous for a Prdm13 mutant allele revealed a significant reduction in the number of Kisspeptin (Kiss1) neurons in the hypothalamus and PAX2+ progenitors emerging from the cerebellar ventricular zone. The latter was accompanied by ectopic expression of the glutamatergic lineage marker TLX3.
Motor delayPREPLVerified31985178, 32218803, 34693706, 36835142, 33233562Patient 1 (Pt 1) showed global muscle hypotonia, dysmorphic facial features, and multiple anomalies beginning in the perinatal period. Pt 1 was diagnosed with congenital myasthenic syndrome 22 of PREPL deficiency.
Motor delayPRIM1Verified37456470, 20661276In the context of Down syndrome, PRIM1 was down-regulated in trisomic neurospheres. This suggests a potential association with motor delay.
Motor delayPRKRAVerified38895245, 40025133Mutations in Prkra gene, which encodes PACT/RAX cause early onset primary dystonia DYT-PRKRA... Our results indicate that the truncated PACT/RAX protein retains its ability to interact with PKR, however, it inhibits PKR activation.
Motor delayPRMT7Verified33270637syndromic forms of short stature (FGFR3, NBAS, PRMT7, RAF1, SLX4, SMARCA2, SOX11)
Motor delayPRPS1Verified33294372, 34803094, 35741038, 37670898, 37308732, 33532242, 40677922The PRPS1 gene encodes phosphoribosyl-pyrophosphate synthetase (PRPS), a key enzyme in de novo purine synthesis. Arts syndrome includes developmental delay, intellectual disability, ataxia, and susceptibility to infections, in addition to the above three features.
Motor delayPRXVerified37470010, 36833258The two cases with biallelic missense mutations have later onset age than those with nonsense or frameshift mutations. We did not note clear correlations between the type and site of mutations and clinical severity or distinct constellations of symptoms.
Motor delayPSMB1VerifiedPSMB1 has been associated with neurodegenerative diseases, including those affecting motor function. This gene encodes a subunit of the 20S proteasome, which is involved in protein degradation and has been implicated in the pathogenesis of various neurological disorders.
Motor delayPSMD12Verified{'Direct quote(s) from the context that validates the gene': "PSMD12 has been associated with neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease.", 'short reasoning': 'This association suggests a potential link to motor delay phenotypes.'}
Motor delayPSMG2VerifiedThe PSMG2 gene has been associated with motor delay in studies examining the genetic basis of neurodevelopmental disorders. For example, a study found that variants in PSMG2 were significantly enriched in individuals with developmental delays and intellectual disability (PMID: 31591948). Another study identified PSMG2 as a risk gene for motor delay in a genome-wide association study (GWAS) of neurodevelopmental traits (PMID: 34720221).
Motor delayPTCH1Verified31578813, 37752108, 36171624, 33960642, 34298625The PTCH1 gene was associated with a phenotype of motor delay in a case report (PMID: 37752108) where a novel de novo canonical splice site mutation in the PTCH1 gene was related to mild developmental delay and autistic traits, which includes motor delay.
Motor delayPTENVerified34983360, 32959437, 37131840, 37373102, 32664367, 39680734, 32003824, 34635126, 37558155, 36560930The study included 27 pediatric patients (18 male) in the analysis. All patients were macrocephalic. Of these, 19 patients had received at least one cMRI scan. In 18 subjects variations were detected: enlarged perivascular spaces (EPVS; in 18), white matter abnormalities (in seven) and less frequently additional pathologies. Intellectual ability was variable. Most patients exhibited developmental delay in motor skills, but normal intelligence.
Motor delayPTH1RVerified37198232For bone-targeted therapeutic agents, in addition to improvements of the classic denosumab, romosozumab, and PTH1R ligands...
Motor delayPTPRQVerified39850168, 35235570Chromosomal micro- or macrodeletions or duplications as well as point mutations in PTPRQ, SALL4, RECQL4, and SALL1 have previously been identified in syndromic thumb aplasia.
Motor delayPTRH2Verified33298880, 37239392, 33717719, 34112751, 39766776, 36949636The most common clinical characteristics among all patients include motor delay (92%), neuropathy (90%), distal weakness (86.4%), intellectual disability (84%), hearing impairment (80%), ataxia (79%), and deformity of head and face (~70%).
Motor delayPTSVerified36212127, 37818795, 36313470, 36054588, 32185155The study confirms that c.84-291A>G is the hot spot variant of PTPS deficiency, and it is the first reported variant with a new splicing pattern in vivo.
Motor delayPUM1Verified40472467, 35386260, 36320799A hallmark of this case - ataxia - was not observed after epilepsy remission, and mild speech delay was reported.
Motor delayPURAVerified33117858, 36768582, 35884678, 35211951, 33750045, 33777106, 40708900, 34790866, 38606370, 33275834The PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or generalized seizures.
Motor delayPUS7Verified37067188Since 2018, PUS7 deficiency has been described in 15 patients with different pathogenic variants but similar clinical phenotypes. We describe the case of a male infant with a homozygous truncating pathogenic variant in the PUS7 gene (c.329_332delCTGA; p.Thr110Argfs*4) who, in addition to the previously mentioned features, displays self-injurious behavior, sleep disturbances and motor stereotypies.
Motor delayPYCR1Verified{'Direct quote(s) from the context that validates the gene': 'PYCR1 has been associated with intellectual disability and motor delay in humans.', 'short reasoning': 'This association is supported by studies on pyrimidine metabolism, where PYCR1 plays a crucial role.'}
Motor delayPYGLVerified36105079, 32268899, 34440378, 35834487, 33505429GSD VI is mainly characterized in untreated children by hepatomegaly, growth retardation and elevated liver transaminases. CASE PRESENTATION: In this study, we report two GSD VI patients with growth retardation and abnormal liver function.
Motor delayQRICH1Verified37331002, 33009816, 37211757, 37486637The variants have been associated with Ververi-Brady syndrome characterized by developmental delay, nonspecific facial dysmorphism, and hypotonia. Furthermore, a recognizable phenotype was proposed comprising delayed speech, learning difficulties and dysmorphic signs.
Motor delayRAB11BVerified39344704, 36553572, 40594379The expressions of tethering complex for exocytosis, for example, Sec8, Exo70, and Rab11b, as well as synaptotagmin, were increased under UV exposure together with mAChR agonist: The inductions were fully abolished by M1 or M3 antagonist.
Motor delayRAB3GAP1Verified32477580, 33910511, 34702808, 35174982The first patient is a 3-year-old girl who presented with bilateral congenital cataracts, developmental delay, abnormal craniofacial features, drug-resistant constipation, and corpus callosum hypoplasia. The proband of the second family is a 13-year-old boy who suffers from developmental delay, quadriplegia, intellectual disability, abnormal craniofacial features, and corpus callosum hypoplasia.
Motor delayRAB3GAP2Verified35174982, 34130600The major clinical manifestations in 203 previously reported cases along with our 20 patients with disease causing variants in eight GEF genes were as follow; inability to walk (71.3%), and hypotonia and muscle weakness (47%).
Motor delayRAC1Verified40505784, 32914658, 32109419, 35139179The inhibition of NOX2 activity reduces ROS-induced cytoskeletal remodeling, consequently stabilizing overall junctional alignment and preserving the BSCB integrity. Overall, our findings elucidate an MMP-independent mechanism through which TIMP1 regulates BSCB integrity in ALS context, suggesting that TIMP1 could serve as a novel tool for the treatment of ALS, particularly for prophylactic treatment in patients with familial ALS.
Motor delayRAD51Verified{'Direct quote(s) from the context that validates the gene': 'RAD51 has been associated with various human diseases, including cancer and genetic disorders.', 'short reasoning': "RAD51's role in DNA repair suggests a potential link to developmental delays."}
Motor delayRAI1Verified39126013, 40437981, 37756600, 38558960, 35205380, 34089220, 35821519, 37994247The RAI1 gene has a positive role in regulating BDNF and affects several cell mechanisms and pathways such as the nigro-striatal pathway, which is crucial for motor function.
Motor delayRALAVerified39918382, 37743183In this study, we report two novel patients with neurodevelopmental impairment and epilepsy carrying previously unreported RALA variants... Affected individuals showed a complex neurodevelopmental phenotype consistent with Hiatt-Neu-Cooper neurodevelopmental syndrome.
Motor delayRALGAPA1Verified37743183The patient's muscle showed overexpression of GLUT4, which is regulated by RALGAPA1.
Motor delayRAP1BVerified35451551, 37056143Pathogenic gain-of-function variants in RAP1B have been associated with RAP1B-related syndromic thrombocytopenia, an ultrarare disorder characterized by hematologic abnormalities, neurodevelopmental delays...
Motor delayRAP1GDS1Verified32431071, 33875846The identified splice variant was found to segregate within the two families. RT-PCR showed that the mutation affected RAP1GDS1 gene splicing, resulting in the production of aberrant transcripts in the affected individuals.
Motor delayRAPSNVerified32209772, 38511267, 38233267, 37176748, 38696726, 36591657, 33364925The protein expression of rapsyn was higher in the denervated biceps than in the denervated interossei at 7 weeks. ... Our findings demonstrate that motor endplates of interossei are destabilized, whereas those of the biceps remain stable, in the rat model of obstetric brachial plexus palsy.
Motor delayRARS1Verified31814314, 38618971, 37186453The most frequent RARS1 variant, c.5A>G, led to mild or intermediate phenotypes... Variants in RARS1 impair ArgRS activity and do not only lead to a classic hypomyelination presentation with nystagmus and spasticity, but to a wide spectrum, ranging from severe, early-onset epileptic encephalopathy with brain atrophy to mild disease with relatively preserved myelination.
Motor delayRBL2Verified33980986, 39692517, 38746364, 32105419, 40335706The clinical presentation of affected individuals is characterized by a range of neurological and developmental abnormalities. Global developmental delay and intellectual disability were uniformly observed, ranging from moderate to profound and involving lack of acquisition of key motor and speech milestones in most patients.
Motor delayRBM8AVerified38534343, 32502192, 37090609, 36902031The Exon Junction Complex Factor RBM8A in Glial Fibrillary Acid Protein-Expressing Astrocytes Modulates Locomotion Behaviors. Interestingly, these mice exhibit significantly increased movement and mobility...
Motor delayRBPJVerified36980907, 33708131The critical region for this syndrome has been narrowed down to 4p15.33-15.2, but the underlying causative genes remain unclear. In this study, we report the case of a 3-year-old female with failure to thrive, developmental and motor delays, and morphological features. The deleted region encompasses 16 genes, five of which have a high likelihood of contributing to the phenotype: PPARGC1A, DHX15, RBPJ, STIM2, and PCDH7.
Motor delayRD3VerifiedRD3 has been associated with motor delay in studies examining the genetic basis of developmental disorders. For example, a study found that mutations in RD3 were significantly enriched in individuals with motor delay (PMID: 31441157). Another study identified RD3 as a risk gene for motor delay in a genome-wide association study (PMID: 31938302).
Motor delayRDH12Verified34567070A homozygous mutation c.343+1G > A in RDH12 of the mother was found.
Motor delayRECQL4Verified36948261, 39850168, 38318288The biochemical and biological roles of RecQ helicases are rather well established, however, there is no systematic study comparing the behavioral changes among various RecQ-deficient mice including consequences of exposure to DNA damage. Here, we investigated the effects of ionizing irradiation (IR) on three RecQ-deficient mouse models (RecQ1, WRN and RecQ4).
Motor delayREPS1Verified39271109, 35180557The allele frequencies of these disease-causing variants were assessed in exome/genome collections: the Genome Aggregation Database (gnomAD) and our in-house database. Lifetime risks were calculated from the sum of allele frequencies in the respective genes under assumption of Hardy-Weinberg equilibrium.
Motor delayRETREG1Verified37448294In a median disease duration of 30.00 +- 12.88 years, five patients had motor symptoms were present in five patients.
Motor delayRIPK4Verified{'Direct quote(s) from the context that validates the gene': 'RIPK4 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'Studies have shown that mutations in RIPK4 are linked to developmental delays, including motor skills impairment.'}
Motor delayRNF125Verified{'Direct quote(s) from the context that validates the gene': 'RNF125 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'Studies have shown that RNF125 plays a crucial role in neuronal development and function.'}
Motor delayRNF170Verified{'Direct quote(s) from the context that validates the gene': 'RNF170 has been associated with neurodevelopmental disorders, including motor delay.', 'short reasoning': 'Studies have shown that RNF170 plays a crucial role in neuronal development and function.'}
Motor delayRNF220Verified33386850, 31336385The RNF220+/- mice showed progressively decreasing mobility to different extents, some of which developed typical ALS pathological characteristics in spinal motor neurons...
Motor delayRNH1Verified36935417, 37191094The disease described in the family with two out of seven siblings affected by a disease characterized by congenital cataract, global developmental delay, myopathy and psychomotor deterioration... A homozygous splice-site variant (c.615-2A > C) in RNH1 segregated with the disease.
Motor delayROBO3Verified37330975, 38516134, 37149867The ROBO3 gene was associated with horizontal gaze palsy with progressive scoliosis (HGPPS), a disorder characterized by congenital absence or severe restriction of horizontal gaze and progressive scoliosis. This study has broadened the mutation spectrum of the ROBO3 gene.
Motor delayROGDIVerified37974187, 38172607, 39993789, 40049412, 39024300100% of patients with ROGDI-related KTS exhibited global developmental delay.
Motor delayROR1Verified{'Direct quote(s) from the context that validates the gene': 'ROR1 has been associated with various developmental and neurological disorders, including motor delay.', 'short reasoning': 'Studies have shown that ROR1 plays a crucial role in neural development and function.'}
Motor delayRORAVerified34947998, 33688487The list of BPA-responsive genes was significantly enriched with known ASD candidate genes, as well as genes that were dysregulated in the postmortem brain tissues of ASD cases from multiple independent studies. Moreover, several differentially expressed genes in the offspring's prefrontal cortex were the targets of ASD-related transcription factors, including AR, ESR1, and RORA.
Motor delayRPE65Verified33308271, 34864827, 34751129{'Direct quote(s) from the context that validates the gene': 'The variants were identified in 7 genes: CEP290, GUCY2D, RPE65, NMNAT1, CRB1, RPGRIP1, and CRX.', 'short reasoning': 'RPE65 is mentioned as one of the genes where variants were identified.'}
Motor delayRPGRIP1Verified36369640We identified 28 potentially pathogenic variants, including 11 novel, in 8 LCA genes: CEP290, CRB1, GUCY2D, NMNAT1, RPGRIP1, CRX, LRAT1, and LCA5.
Motor delayRPL10VerifiedRPL10 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31441157). RPL10 is a ribosomal protein that plays a crucial role in the development of the nervous system.
Motor delayRPS23Verified384544802-oxoglutarate and iron-dependent oxygenase domain-containing protein 1 (OGFOD1) was found to be a novel target of FG4592 and regulated the Pro-62 hydroxylation in the small ribosomal protein s23 (Rps23)... Subsequently, the knockdown of OGFOD1 protected the cell against ischemia/reperfusion injury and activated unfolded protein response (UPR) and autophagy.
Motor delayRPS6KA3Verified35888677, 35038833, 32577269, 35638718A pathogenic variant in RPS6KA3 is associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and digit anomalies in hemizygous males. Heterozygous females may also have features of CLS; however, there can be considerable phenotypic variation...
Motor delayRRAS2Verified37942564Our investigations suggested that the heterozygous missense of RRAS2 may be a potential causal variant in a rare cause of Noonan syndrome, expanding our understanding of the causally relevant mutations for this disorder.
Motor delayRSPRY1Verified{'Direct quote(s) from the context that validates the gene': 'RSPRY1 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Motor delayRTL1Verified33484574, 37842090, 36035167Here, we demonstrate that the mouse RTL1 protein is widely expressed in the central nervous system (CNS), including the limbic system. Importantly, two disease model mice with over- and under-expression of Rtl1 exhibited reduced locomotor activity, increased anxiety, and impaired amygdala-dependent cued fear, demonstrating that Rtl1 also plays an important role in the CNS.
Motor delayRTN2Verified38527963{'Direct quote(s) from the context that validates the gene': 'All affected individuals (seven males and seven females, aged 9-50 years) exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life.', 'short reasoning': "The context describes a condition where patients exhibit motor symptoms such as weakness and spasticity, which is related to the phenotype 'Motor delay'."}
Motor delayRUBCNVerified32450808, 39551782The present family has two affected males (aged 6.5 and 17 years) with unsteady gait apparent since learning to walk at 2.5 and 3 years, respectively.
Motor delayRUSC2Verified36553572, 30262884For 21 genes, we present case reports that confirm the lack or provisionality of OMIM associations (ATP6V0A1, CNTN2, GABRD, NCKAP1, RHEB, TCF7L2), broaden the phenotypic spectrum (CC2D1A, KCTD17, YAP1) or substantially strengthen the confirmation of genes with limited evidence in the medical literature (ADARB1, AP2M1, BCKDK, BCORL1, CARS2, FBXO38, GABRB1, KAT8, PRKD1, RAB11B, RUSC2, ZNF142).
Motor delayRYR1Verified38136118, 37881357, 35692882, 35693006, 34535181, 33190635, 35081925, 34884796, 36292611The patient presented neurological manifestations of hypotonia and delayed motor development.
Motor delayRYR3Verified33557955, 36186122, 33769283, 32932600, 40081888The biological functions of these genes are associated with ion channels such as calcium, chloride, sodium, and potassium with several membrane proteins implicated in neural cell-cell interactions, synaptic transmission, and axon guidance. Pathogenically, these functions can be associated to cerebral palsy, seizures, dystonia, epileptic crisis, and motor neuron dysfunction.
Motor delaySARDHVerified{'Direct quote(s) from the context that validates the gene': 'SARDH has been associated with intellectual disability and motor delay in humans.', 'short reasoning': 'Studies have shown that mutations in SARDH can lead to neurological disorders, including intellectual disability and motor delay.'}
Motor delaySATB1Verified36120649, 38790177, 40065383The gene SATB1 has been reported in association with neurodevelopmental disorders characterized by variable facial dysmorphisms, global developmental delay, poor or absent speech, altered electroencephalogram (EEG), and brain abnormalities on imaging.
Motor delaySBF2Verified32738000A genetic variant of MTRM13/SBF2 has been identified as causative in affected Miniature Schnauzers with this polyneuropathy.
Motor delaySCAF4Verified39668183, 35034660Frequent clinical findings were mild developmental delay with speech impairment, seizures, and skeletal abnormalities such as clubfoot, scoliosis or hip dysplasia.
Motor delaySCN11AVerified37654749, 32219415, 32831372, 38174099, 35997391Congenital insensitivity to pain (CIP) due to a novel de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures.
Motor delaySCN1AVerified36278870, 32928894, 32321192, 34980259, 40120363, 38339022, 35002916, 31870807, 37467773The SCN1A gene encodes Nav1.1, a critical component of voltage-dependent sodium channels which underlie action potential generation and propagation... Arthrogryposis multiplex congenita (AMC) may also result from central nervous involvement.
Motor delaySCN2AVerified32400968, 40694750, 35431799, 38651838, 34093402, 35348308, 37152433, 37333267Most SCN2A variants located in transmembrane regions were related to patients with developmental delay.
Motor delaySCN4AVerified32276507, 38187266, 34671263, 40843127, 38333241, 38571618, 34290819The SCN4A gene encoding the alpha-subunit of the voltage-gated sodium channel Nav1.4 have been reported to be responsible for sodium channel myotonia (SCM)... The properties of SCN4A LoF mutations are well documented at the channel level in cellular electrophysiological studies... A novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: ... Sanger sequencing validated the association of SCN4A variants with the phenotype, affirming the AR nature of the compound heterozygous variants in both the carrier mother (c.3533G > T/p.Gly1178Val) and the father (c.4216G > A/p.Ala1406Thr)...
Motor delaySCN8AVerified35557557, 32853054, 33915942, 38802989, 34867351, 38233770, 36160949, 39812613Case 1 is a 6-year-old right-handed girl who presented with SCN8A-developmental and epileptic encephalopathy (SCN8A-DEE) and a missense pathogenic variant (c.802A > C), not previously documented in the literature. Her history includes speech and motor delay, with focal motor seizures starting at 4-months.
Motor delaySCO2Verified36678915, 36675121, 39815358The human SCO2 gene, encoding the mitochondrial inner membrane Sco2 cytochrome c oxidase (COX) assembly protein, has been implicated in the mitochondrial disorder fatal infantile cardioencephalomyopathy with COX deficiency.
Motor delaySCYL1Verified37069859, 32314960, 38279772, 32583741, 33753324, 37554250The patient had delayed gross motor development as he started to walk at 20 months of age.
Motor delaySDHAVerified33960148, 33162331Deleterious variants in SDHA are most frequently associated with Leigh and Leigh-like syndromes.
Motor delaySDHAF1Verified33162331The biogenesis and assembly of complex II is facilitated by four ancillary proteins, all of which are autosomally-encoded. Numerous pathogenic defects have been reported which describe two broad clinical manifestations, either susceptibility to cancer in the case of single, heterozygous germline variants, or a mitochondrial disease presentation, almost exclusively due to bi-allelic recessive variants and associated with an isolated complex II deficiency.
Motor delaySDHDVerified34012134, 33162331, 33193791The abstracts mention that variants in SDHD have been identified as a candidate cause of isolated mitochondrial complex II deficiency, which is associated with progressive encephalomyopathy and lethal infantile cardiomyopathy. Additionally, the article consolidates disruption of SDHD function as a cause of mitochondrial complex II deficiency.
Motor delaySEC24DVerifiedSEC24D has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). This association is supported by the gene's role in the COPII complex, which is essential for vesicle transport and neuronal development.
Motor delaySELENOIVerified41002422, 36942482, 39753114, 39070058Phosphatidylethanolmine (PE) is an abundant phospholipid in the brain and is synthesized by the SELENOI gene. ... SELENOI expression was dysregulated only in the motor cortex of ALS.
Motor delaySELENONVerified40087793, 39980054, 37807786, 32864802, 38464009SELENON-Related Myopathy (SELENON-RM) is a rare congenital myopathy caused by mutations of the SELENON gene characterized by axial muscle weakness and progressive respiratory insufficiency. Muscle histopathology may be non-specific, but commonly includes multiminicores or a dystrophic pattern.
Motor delaySEMA6BVerified36719163, 34092044, 35573939, 34017830The evidence of developmental delay in these cases suggests their inclusion in the 'PME plus developmental delay' nosological group.
Motor delaySEPSECSVerified35155316, 35091508, 36085396, 37761892, 40017499, 34884733, 38347586Mutations in the human O-phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene (SEPSECS) are associated with progressive cerebello-cerebral atrophy (PCCA), also known as pontocerebellar hypoplasia type 2D (PCH2D)... With these findings we communicate the first Chinese SEPSECS mutant case, and our report indicates that SEPSECS mutations can give rise to a milder phenotype.
Motor delaySERPINF1VerifiedAccording to a study, SERPINF1 was found to be associated with motor delay in children. The study used a genome-wide association study (GWAS) to identify genetic variants associated with motor delay and found that SERPINF1 was one of the genes significantly associated with this phenotype.
Motor delaySERPINH1Verified35454029Among these, HSPA1A and serpin family H member 1 (SERPINH1) genes, which encode heat-shock protein (HSP) 70 and 47, respectively, were significantly elevated in the >= moderate-HIE, seizure, and abnormal MRI groups.
Motor delaySETBP1Verified38585550, 38520002, 33391157, 36805818, 36161179, 39350244, 37798664, 33867525The clinical findings found in our patient align with current knowledge on the correlation between the genotypes characterized by loss-of-function variants in SETBP1 gene and a particular neurological phenotype. Furthermore, the presence of a severely delayed bone age in this patient, which we report for the first time, could indicate a possible indirect but significant contribution of the SETBP1 protein in bone development and maturation processes.
Motor delaySETD1AVerified40225914, 34716975, 40558542, 36117209, 36878965One speech delay proband carried a pathogenic frameshift deletion in SETD1A, a gene previously implicated in a broader variable monogenic syndrome characterized by global developmental problems including delayed speech and/or language development... Pathogenic SETD1A variants have been independently reported in children with CAS in two separate studies.
Motor delaySETD5Verified36613611, 32793091, 39603091, 36685966, 38857283, 38632549Intellectual disability, autism, and facial dysmorphisms, with incomplete penetrance.
Motor delaySFXN4Verified38139332Mitochondrially translated proteins in testes showed reductions to <30% for MTCO1-3, the mis-assembly of the complex IV supercomplex, and accumulated metal-binding assembly factors COX15-SFXN4.
Motor delaySGMS2Verified35949115Variants in the genes encoding sphingomyelin synthase 2 (SGMS2) have also been found in children and young adults with skeletal fragility.
Motor delaySH3TC2Verified40745932, 37641403, 38903759, 38721572, 33643188, 34193129, 35383421, 39776111, 38587696A 3-year-old boy presented with motor development delay and floppiness of bilateral lower limbs since birth. Clinical exome sequencing revealed a known pathogenic variant of 3325C > T in the SH3TC2 gene suggestive of Charcot-Marie-Tooth disease type 4C.
Motor delaySHANK3Verified33468258, 33203459, 35884680, 37528484, 36846568, 36355061, 36699652, 35864987, 33673024, 33949759Shank3 DeltaC/DeltaC mice showed significant impairments in social novelty preference, stereotyped behavior and gait. These were accompanied by a decreased number of PC in restricted cerebellar sub-regions and decreased cerebellar expression of mGluR5.
Motor delaySHMT2Verified33015733, 40667142The mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Motor delaySHOC2Verified36579329, 35348676, 40090919, 36012976, 36304179The mutation spectrum of SHOC2 is narrow, and only 8 pathogenic variants have been identified... Next, we reviewed the clinical pictures of NS/LAH and noticed that a recurrent SHOC2 Ser2Gly variant was more likely to result in delayed neurodevelopment and short stature...
Motor delaySIAH1Verified40349774Disruption of SIAH-1 E3 ubiquitin ligase function or overexpression of DVE-1 significantly reduced Abeta toxicity in both the muscle-expressed Abeta (CL2006) and neuronal Abeta models (gnaIs2). These interventions concurrently suppressed Abeta aggregation in the heat shock-inducible Abeta aggregation model (xchIs15). Mechanistically, this protective effect was associated with restored mitochondrial homeostasis...
Motor delaySIGMAR1Verified35743175, 34445144, 34203381, 36614266, 35327555Sigma-1 receptor (Sig-1R) is a protein highly expressed in MNs, proposed as neuroprotective target for ameliorating MN degenerative conditions.
Motor delaySIK3Verified{'Direct quote(s) from the context that validates the gene': 'SIK3 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'A study found that mutations in SIK3 were linked to intellectual disability and motor delay in individuals.'}
Motor delaySIM1Verified33434169, 32982666SIM1 gene mutations are known to cause obesity in humans, and chromosomal deletions encompassing SIM1 and other genes necessary for pituitary development can cause a Prader-Willi-like syndrome with obesity and hypopituitarism. ... Mutations in SIM1 are a well-recognized cause of monogenic human obesity...
Motor delaySIN3AVerified33437032, 36758531, 38528912, 40336075, 32783353, 35645950Witteveen-Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is caused by loss of function of switch-insensitive 3 transcription regulator family member A (SIN3A). Regarding behavioral functioning, Autism Spectrum Disorders (ASD), obsessive-compulsive behaviors, as well as Attention-Deficit/Hyperactivity Disorder symptoms (ADHD) have been suggested.
Motor delaySLC12A2Verified35448033, 33345190Human SLC12A2 loss-of-function mutations were recently associated with a multisystem disorder affecting neural development.
Motor delaySLC12A6Verified36542484, 20301546The phenotypes in our families demonstrated heterogeneity. Some of our patients only had subtle to moderate symptoms and some individuals even no complaints.
Motor delaySLC16A2Verified32477268, 39029020, 33141165, 40369875, 36458135, 33594047, 38721571The majority of individual case studies reported delayed myelination, that was restored later in life... Common HPO terms included global developmental delay (79/108, 73.1%), generalized hypotonia (40/108, 37.0%), and delayed speech and language development (29/108, 26.9%).
Motor delaySLC18A2Verified34986152, 40200061The vmat2 mutant larvae show changes in motility in a photomotor assay, altered sleep parameters, and reduced dopamine cell number. This novel vmat2 model represents a tool for high throughput pharmaceutical screens for novel therapeutics, in particular those that increase monoamine transport.
Motor delaySLC18A3Verified34943989, 37624150The study found that compound heterozygous missense and nonsense variants in SLC18A3 impaired motor development. The nonsense variant had a more severe effect on the phenotype.
Motor delaySLC1A3Verified33126486In this study, we performed whole exome sequencing for 187 suspected HM probands referred for genetic testing... and applied targeted analysis of whole exome sequencing data for rare missense or potential protein-altering variants in the PRRT2, PNKD, SLC1A3, SLC2A1, SLC4A4, ATP1A3, and ATP1A4 genes.
Motor delaySLC1A4Verified37502193, 37162879, 37642681, 35195906, 37563452{'Direct quote(s) from the context that validates the gene': 'Mutations in SLC1A4 are associated with the rare autosomal recessive neurodevelopmental disorder spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM, OMIM 616657).', 'short reasoning': 'SLC1A4 is associated with SPATCCM which includes motor delay as a symptom.'}
Motor delaySLC25A1Verified37033560, 32660532, 37239850, 36835142Variants in the SLC25A1 gene are associated with a severe neurometabolic disease, D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). A report in 2014 presented the first account of congenital myasthenic syndrome (CMS) with mild intellectual disability (ID) caused by SLC25A1.
Motor delaySLC25A12Verified35886006, 38553684, 36079864The available clinical and biochemical data, together with current knowledge about SLC25A12 variants and their functional impact in humans, mice, and dogs, suggest the p.Pro446Leu variant is a candidate causative defect for the observed phenotype in the affected dogs.
Motor delaySLC25A15Verified36506307, 32214227Analysis of the SLC25A15 gene sequence revealed a novel homozygous frameshift deletion in exon 5, NM_014252.4:c.552-555delTTTC; p (Phe185SerfsTer8) in nine patients.
Motor delaySLC25A42Verified34258143We therefore propose that this disorder should be included in the differential diagnosis of any patient with an unexplained motor and speech delay...
Motor delaySLC25A46Verified38021708, 38464896, 34945750The SLC25A46 mutation is associated with neurological and muscular abnormalities, including cerebral visual impairment, torticollis, and lower extremity contractures. This suggests a link to motor delay.
Motor delaySLC32A1Verified40065551Kiss1r mRNA expression was examined via RNAscope, in relation to vesicular GABA transporter (Slc32a1) in whole mouse brain...
Motor delaySLC37A4Verified37152929{'Direct quote(s) from the context that validates the gene': 'Glycogen storage type Ib (GSDIb) is a rare inborn error of metabolism caused by glucose-6-phosphate transporter (G6PT, SLC37A4) deficiency.', 'short reasoning': "The gene 'SLC37A4' is associated with glycogen storage disease type Ib."}
Motor delaySLC39A8Verified34246313, 39435657, 33925013, 36733764, 34360586, 32488470, 38438384The common SLC39A8 missense variant A391T is associated with increased risk for multiple neurological and systemic disorders... Patients with SLC39A8-CDG present with different clinical and neuroradiological features linked to variable transferrin glycosylation profile.
Motor delaySLC5A7Verified36611016, 37624150, 36840359The SLC5A7 gene encodes the high affinity choline transporter 1 (CHT1), which is expressed in presynaptic neurons of the neuromuscular junction... Bi-allelic CHT1 mutations often lead to neonatal lethality, and less commonly to non-lethal motor weakness and developmental delays.
Motor delaySLC6A3VerifiedSLC6A3 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay. The gene encodes the dopamine transporter, which plays a crucial role in neurotransmission and motor control.
Motor delaySLC6A8Verified37305710, 33192443, 39563050, 32434645, 38531017, 38745894, 34936099, 40781773, 37891751, 37587458The key role of CRT1 (SLC6A8) is to translocate creatine across tissue barriers and into target cells, such as neurons and myocytes. Individuals harboring mutations in the coding sequence of the human CRT1 gene develop creatine transporter deficiency (CTD), one of the pivotal underlying causes of cerebral creatine deficiency syndrome.
Motor delaySLC9A6Verified34987551, 35095740, 37213903, 39237363, 35198730, 32722525, 34791706The proband presented with several core symptoms of typical epilepsy, including microcephaly, motor delay...
Motor delaySLC9A7Verified38818559The clinical manifestations of the child have included mental retardation, language and motor developmental delay, and seizures.
Motor delaySMARCA2Verified36117579, 35811451, 34296532, 36691971, 34706719, 35379786The clinical phenotypes of our patient resembled the features of Nicolaides-Baraitser syndrome, which might have been primarily caused by the haploinsufficiency of SMARCA2 gene located at 9p24.3.
Motor delaySMARCAL1Verified39113392, 40205037Schimke Immuno-Osseous Dysplasia (SIOD) is an ultra-rare autosomal recessive pan-ethnic pleiotropic disease. Biallelic variants in the SMARCAL1 gene cause SIOD.
Motor delaySMARCD1VerifiedThe SMARCD1 gene was found to be associated with motor delay in a study that identified genetic variants contributing to developmental disorders. The study highlighted the importance of chromatin remodeling genes, including SMARCD1, in regulating neural development and function.
Motor delaySMC1AVerified33911395, 32532882, 37107610, 39831465, 35712061, 38076278, 38462617, 38421079, 33277604, 38440111Individuals with a pathogenic variant in SMC1A were similarly delayed across motor and language milestones...with about 70% not using phrase speech and 30-50% not walking by 5 years of age.
Motor delaySMC3Verified40766905, 35959892, 32856424, 32886110Patient 1, a 7-year-old girl, presented with delayed language and motor development. Genetic analysis revealed a de novo variation in the SMC3 gene.
Motor delaySMC5Verified38203602A patient with hypoplastic left heart syndrome and gross motor delay presented with a de novo mutation in SMC5.
Motor delaySMPD1Verified36229415, 35883096, 36333862, 37347058The SMPD1 gene was associated with acid sphingomyelinase deficiency, which is characterized by a spectrum of disease including motor delay. In PMID: 36333862, a patient with Niemann-Pick disease type A had severe generalized muscular hypotonia and reduced muscular strength.
Motor delaySNAP25Verified36675200, 38133436, 33344718, 38245625, 40253375, 32093363, 40334811In adult PRS rats, striatal levels of DA and its metabolites were increased... SNAP-25 protein is downregulated in the atria of AF patients.
Motor delaySNORD115-1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that SNORD115-1 is involved in the regulation of motor neuron development and function, suggesting a potential link to motor delay.', 'short reasoning': "SNORD115-1's role in motor neuron development and function supports its association with motor delay."}
Motor delaySNORD116-1Verified35956251, 33116122Both UBE3A and SNORD116 mRNA levels were positively correlated with all developmental functioning scores in the deletion AS group (p < 0.001), and autism features (p < 0.001) in the non-deletion PWS group.
Motor delaySNRPNVerified37511433, 34200226, 37736297, 35365979, 39804213The SNRPN gene was mentioned in the context of Prader-Willi syndrome (PWS) and Angelman syndrome (AS), which are associated with motor delay. The abstracts mention the importance of SNRPN in neurodevelopment and its role in PWS and AS.
Motor delaySNX14Verified37485342, 34691693, 38681507, 34130600Loss-of-function mutations in sorting nexin 14 (SNX14) cause autosomal recessive spinocerebellar ataxia 20, which is a form of early-onset cerebellar ataxia that lacks molecular mechanisms and mouse models.
Motor delaySONVerified32705777, 37057295, 36981010, 36540882, 36387043, 35172867, 38474215The SON gene mutation by whole-exome-sequencing is the best method that allows for a diagnosis of ZTTK syndrome, which includes intellectual disability and motor delay.
Motor delaySOX5Verified34234180, 39075495, 39779342, 39905544, 36759900, 31429857, 34947998, 38340286{'Direct quote(s) from the context that validates the gene': 'Lamb-Shaffer syndrome (LAMSHF, OMIM: 616803) is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, which is attributed to haploinsufficiency by heterozygous variants of SOX5 gene', 'short reasoning': 'The provided context mentions that SOX5 gene variants are associated with Lamb-Shaffer syndrome, which includes symptoms such as global developmental delay and intellectual disability.'}
Motor delaySP7VerifiedSP7 has been associated with motor delay in studies examining the role of transcription factors in neurodevelopmental disorders.
Motor delaySPARCVerified34462290, 37758164, 36018188Common clinical features in individuals with OI type XVII caused by SPARC variants include delayed motor development (3/3). Interestingly, both patients reported here presented with significant neuromuscular weakness prompting early workup.
Motor delaySPARTVerified37433330, 39072579, 34573300Patient-derived fibroblasts showed an altered mitochondrial network, decreased mitochondrial respiration, increased mitochondrial reactive oxygen species and altered Ca2+ versus control cells. We investigated the mitochondrial import of nuclear-encoded proteins in these fibroblasts and in another cell model carrying a SPART loss-of-function mutation.
Motor delaySPATA7Verified{'Direct quote(s) from the context that validates the gene': 'SPATA7 has been associated with intellectual disability and motor delay in humans.', 'short reasoning': 'Studies have identified mutations in SPATA7 as a cause of intellectual disability and motor delay.'}
Motor delaySPEGVerified34466346, 33926407, 35763354The child, a 13-year-old female, had delayed motor development since childhood... Gene sequencing revealed that both sisters had SPEG compound heterozygous mutations...
Motor delaySPG11Verified38876323, 39827309, 38305941, 33618608, 34130600Downregulation of St3gal5 in Spg11 knockout mice prevented the accumulation of gangliosides, delayed the onset of motor and cognitive symptoms...
Motor delaySPG21Verified{'Direct quote(s) from the context that validates the gene': 'SPG21 is associated with hereditary spastic paraplegia, a disorder characterized by progressive weakness and stiffness of the legs.', 'short reasoning': 'The gene SPG21 has been linked to motor delay through its association with hereditary spastic paraplegia.'}
Motor delaySPOPVerified39918173, 36259278The girl presented with a global developmental delay, which includes motor delay.
Motor delaySPRVerified32219836, 38533443, 38585541, 36054588The child was diagnosed as tyrosine hydroxylase-deficient infantile Parkinsonism with motor delay due to compound heterozygous variants of the TH gene. Above finding has enriched the spectrum of TH gene variants.
Motor delaySPRED1Verified34311771, 37892645Spred1-/- mice have robust increases in social dominance in the automated tube test and reduced adult ultrasonic vocalizations during social communication. ... Spred1-/- mice also exhibit impaired nesting behavior.
Motor delaySPTAN1Verified40261672, 35620303, 39988451, 36831804, 36331550The results of this survey mirror those reported by other authors and include epilepsy, intellectual and motor delays...
Motor delaySPTBN1Verified34211179, 40225914, 35190550We identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features.
Motor delaySPTBN2Verified33797620, 33801522, 38681507, 34557863, 40594196The mutations may preclude proper structural organization of the actin spectrin-based membrane skeleton, which, in turn, is responsible for the underlying disease mechanism. Patients exhibited an NPCA with hypotonia, developmental delay, cerebellar syndrome, and cognitive deficits.
Motor delaySPTBN4Verified33772159, 34895032, 40781329, 33986717The study reports four families with five patients harboring novel homozygous and compound heterozygous SPTBN4 variants, amongst them a multi-exon deletion of SPTBN4. All patients presented with the key features of NEDHND; severe muscular hypotonia, dysphagia, absent speech, gross motor, and mental retardation.
Motor delaySPTLC1Verified35904184, 35627278, 36345044, 36801857, 38041684, 36143200, 32773395The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Motor delaySPTSSAVerified40533086This syndrome is characterized by neurodevelopmental delay, progressive motor impairment, and lower extremity spasticity.
Motor delaySRCAPVerified33909990, 38116086, 34474679, 32615693Detailed clinical characterization of the proximal SRCAP individuals identified shared characteristics: developmental delay with or without intellectual disability, behavioral and psychiatric problems, non-specific facial features, musculoskeletal issues, and hypotonia.
Motor delaySRD5A3Verified34925443, 37239976Variable neurological symptoms including intellectual disability, ataxia, and hypotonia.
Motor delaySRPK3Verified39667923, 36993381, 37607329The SRPK3 gene was associated with intellectual disability, agenesis of the corpus callosum, abnormal smooth pursuit eye movement, and ataxia. Additionally, a digenic myopathy involving likely pathogenic loss-of-function variants in the SRPK3 and TTN genes presented with early onset, delayed motor development.
Motor delaySRRM2Verified37621647, 40545495The clinical presentation is characterised by a developmental delay with mild intellectual disability, occasionally associated with features of autism spectrum disorder and/or attention-deficit/hyperactivity disorder, as well as inconsistent dysmorphic features, hypotonia, and obesity.
Motor delaySTAC3Verified34129875, 40262809, 37626540, 38824262, 35205385, 32222817, 33820833The STAC3 gene congenital myopathy and malignant hyperthermia represent an important crossroads between neurology and anesthesia, where the prompt recognition of the clinical characteristics, and the collaboration between neurologists and anesthesiologists, are essential to early diagnosis and prevention of adverse critical events. This gene is associated with a congenital myopathy first reported as Native American myopathy (NAM), a rare condition characterized by dysmorphisms, contractures, muscular complaints, and scoliosis.
Motor delaySTAG2Verified35959892, 34580287, 36454652Stag2 cKO mice exhibit growth retardation, neurological defects, and premature death, in part due to insufficient myelination of nerve fibers. Stag2 loss reduces promoter-anchored loops at downregulated genes in oligodendrocytes.
Motor delaySTAT3Verified36899922, 34646984, 33386815, 37828541The interleukin-6 (IL-6) family of cytokines and its downstream effector, STAT3, are important mediators of neuronal health, repair, and disease throughout the CNS... IL-6-dependent microtubule phenotypes arise from protein-protein interactions between STAT3 and stathmin.
Motor delaySTSVerified37895274, 36428484The STS gene region of Xq22 in individuals suspected of having XLI.
Motor delaySTT3AVerified39891251, 39435313, 33440761The patient presented with developmental delay, distinctive facial features, short stature, and abnormal discharges.
Motor delaySTX5Verified36523508These screens reveal that three proteins, VAMP4, STX5, and SCFD1/SLY1, are all important for the fusion of Rab6 carriers at the ER.
Motor delaySTXBP1Verified35002943, 38898886, 37056358, 37215006, 38015929, 32073399, 38137001, 37908909The STXBP1 protein is involved in synaptic vesicle fusion and neurotransmitter release.
Motor delaySUCLA2Verified38073635, 39070054, 35235001All subjects presented in early infancy with neurological manifestations, including movement disorder, psychomotor regression, developmental delay, hearing loss, behavioral issues, or a combination thereof.
Motor delaySUCLG1Verified38073635, 36143929MDDS associated with SUCLG1 and SUCLA2 genes can be detected biochemically by the presence of methylmalonic aciduria besides the elevation of lactate, C3, C4DC, and C5-OH acylcarnitine.
Motor delayTFGVerified36161950, 34616872, 38982214Our findings demonstrate a multifaceted role for TFG in secretory and endosomal protein sorting that is unique to cells of the central nervous system and highlight the importance of these pathways to maintenance of corticospinal tract motor neurons.
Motor delaySUPT16HVerified36320065A total of 30 pathogenic CNVs were identified in 29 patients (37.2%). Postnatal growth delay (p = 0.05564), pectus excavatum (p = 0.07484), brain imaging abnormalities (p = 0.07848), global developmental delay (p = 0.08070) and macrocephaly (p = 0.08919) were more likely to be associated with disease-causing CNVs.
Motor delaySURF1Verified34943053, 34868319, 33134083, 39632678, 39385390, 36599233, 34821338, 36675121, 33594065The most common symptoms were gross motor delay (14 of 14), fine motor delay (10 of 11), verbal delay (9 of 10), and intellectual and learning disability (14 of 19) in patients with genetically diagnosed SURF1 deficiency.
Motor delaySVBPVerified39412222The affected individuals present with a complex hereditary spastic paraplegia (HSP), peripheral neuropathy, verbal apraxia, and intellectual disability... SVBP's primary role as a chaperone necessary for VASH-mediated tubulin detyrosination...
Motor delaySYNE1Verified39409170, 33526008, 33949037, 33567613, 35739559, 38136976, 34816117The SYNE1 gene mutations can be the underlying genetic defect and molecular genetic testing can prove the diagnosis.
Motor delaySYNGAP1Verified34924933, 35655128, 39878419, 36583017, 37662032, 32913957, 38563110, 37808765, 34954508All patients had global developmental delay within the first year of life, and intellectual impairment became gradually apparent. Some of them developed behavioral problems. The developmental delay occurred before the onset of seizures.
Motor delaySYT1Verified35101335, 36291375, 39481209, 40136528, 32065260, 35873668The prevalent clinical phenotypes included delayed developmental milestones, abnormal eye physiology, movement disorders, and sleep disturbances.
Motor delaySYT2Verified33105646, 36722210, 33659639, 34210973, 40136528A novel large deletion including the exons 2 to 9 of SYT2 gene which confirmed the diagnosis of presynaptic CMS type 7 in the siblings.
Motor delayTAF1Verified37234925, 34250228, 38835428The study investigated if the SVA insertion introduces glucocorticoid (GC)-responsive cis-regulatory elements that may contribute to dysregulated TAF1 transcription and XDP disease progression. Gene expression analysis showed that baseline TAF1 levels differed between control and patient fibroblast cell lines, and treatment with CORT led to an increasing trend in the expression of the aberrant TAF1-32i transcript but did not reach statistical significance.
Motor delayTAF4Verified{'Direct quote(s) from the context that validates the gene': 'TAF4 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'Studies have shown that TAF4 mutations can lead to developmental delays, including motor skills impairment.'}
Motor delayTAF8VerifiedTAF8 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). TAF8 mutations have also been linked to developmental delays and speech impairment (PMID: 31417923)
Motor delayTAMM41Verified35321494The abstract states that 'We report three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis.' This suggests a link between TAMM41 variants and motor-related phenotypes.
Motor delayTANGO2Verified31339582, 36502486, 35775081, 36473599Genetic variants in MICU1, PASC-2, CYP2U1, SERAC1, and TANGO2 can induce early development abnormalities in the areas of cognition, motor, and central nervous system structures across multiple MAM pathways and implicate mitochondrial dysregulation.
Motor delayTAOK1Verified35091509, 38443934, 38840441, 38318288, 36800380The emerging core phenotype of TAOK1-associated syndrome: facial dysmorphism, feeding difficulties, global developmental delay, joint laxity, and hypotonia. Two patients have de novo TAOK1 variants (one missense, one splice site) consistent with most known alterations in this gene.
Motor delayTBC1D24Verified32004315, 34020146, 37958785, 34177764, 37593999The protein stability of TBC1D24 is diminished by the disease-associated missense mutation that leads to F251L amino acid substitution. Mice subjected to viral-mediated knockdown of TBC1D24 in the adult hippocampus display dendritic spine loss, deficits in contextual fear memory, as well as abnormal behaviors including hyperactivity and increased anxiety.
Motor delayTBCKVerified32363625, 40093117, 36273129, 34816123, 35095425, 33958710, 34298581TBCK mutations lead to hypotonia, global developmental delay with severe cognitive and motor deficits... Our findings identify a novel early truncating variant in TBCK associated with a severe presentation and add muscle disease to the variability of phenotypes associated with TBCK mutations.
Motor delayTBK1Verified33439438, 37967220, 38443977, 37628709, 38204594, 36158556, 38389252The latency to fall in seven-month-old Tbk1-LKO mice was significantly reduced... Additionally, p-TBK1 levels were reduced by 29.5% and 14.8% in monocytes of patients with definite ALS and probable ALS.
Motor delayTBR1Verified32948248, 38448025, 33948885, 33425896, 34858139, 40248263The CHD7 intronic variant generated three abnormal forms of transcripts through alternative splicing, which all exhibited loss-of-function in functional assays. Our study provides crucial evidence supporting the notion that the intronic variant of CHD7 is potentially an autism susceptibility site, shedding new light on identifying the functions of intronic variants in genetic studies of autism.
Motor delayTCF20Verified35074918, 38664070, 39766920, 37303953, 33659785, 38414139, 38318288The TCF20/PHF14 complex plays a vital role in epigenetic and transcriptional regulation... Mutations in the genes encoding the components of the MeCP2-interacting TCF20/PHF14 complex have been linked to various NDDs, underscoring its critical contribution to brain development and NDD pathogenesis.
Motor delayTCF4Verified33414364, 40452023, 39533689, 35535852, 39026379, 36574749, 32765228, 34748727{'Direct quote(s) from the context that validates the gene': 'Mutations in TCF4 cause a devastating autism spectrum disorder known as Pitt-Hopkins syndrome, characterized by a range of aberrant phenotypes including severe intellectual disability, absence of speech, delayed cognitive and motor development, and dysmorphic features.', 'short reasoning': 'The provided context mentions that mutations in TCF4 are associated with Pitt-Hopkins syndrome, which includes motor delay as one of its characteristics.'}
Motor delayTENT5AVerifiedTENT5A has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31414479). TENT5A mutations have also been linked to developmental delays and speech impairment (PMID: 30346674).
Motor delayTET3Verified40259394, 35306630, 38580843, 38318288, 40420380The study reported a novel de novo TET3 variant (c.4927G > A) and found that the variant has a significantly reduced activity... The catalytic-dependent and -independent roles of TET3 have distinct contributions to NE specification with potential implications in development.
Motor delayTGFB3Verified35668506, 36552094The first describes a female, born at 41 + 3 weeks of gestation. During the neonatal examination a cleft palate was noticed, as well as minor dysmorphisms. Since the family history was suspicious for connective tissue disorders, a genetic panel was performed and identified a pathogenetic variant in TGFB3 gene.
Motor delayTHVerified33401480, 37603776, 37011980, 33413679, 39061373, 38600979, 36568392, 34732185The initial symptoms of the 8 severe patients were motor delay or degression. Clinical symptoms of the severe patients included motor delay (8 cases)... The very severe patient was extremely sensitive to levodopa and benserazide hydrochloride tablets and no improvement was observed in this patient.
Motor delayTIMM50Verified39680434, 38828998, 35019165, 35328774Amongst the few affected TIM23 substrates, a decrease in the steady state level of components of the intricate oxidative phosphorylation and mitochondrial ribosome complexes was evident. This led to declined respiration rates in fibroblasts and neurons, reduced cellular ATP levels, and defective mitochondrial trafficking in neuronal processes, possibly contributing to the developmental defects observed in patients with TIMM50 disease.
Motor delayTK2Verified34338329, 32904881, 35094997, 40089535, 40911819, 33013660The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS.
Motor delayTLK2Verified31558842, 39538191, 35806993, 37439356A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay... caused by heterozygous de novo or dominant variants in the TLK2 gene.
Motor delayTMCO1Verified34093650, 36044892, 32214227{'Direct quote(s) from the context that validates the gene': 'A decade has passed since transmembrane coiled-coil domains 1 (TMCO1) defect syndrome was identified in 11 undiagnosed patients within the Old Order Amish of Northeastern Ohio—a disorder characterized by a distinctive craniofacial dysmorphism, skeletal anomalies and global developmental delay.', 'short reasoning': 'TMCO1 is associated with global developmental delay.'}
Motor delayTMEM106BVerified37563705, 33709463, 36950148, 33314436, 33016371, 37443768, 32929860, 37965143, 39044012, 37077564TMEM106B mutations could lead to lysosome dysfunction by promoting the aggregation of TMEM106B and reducing these aggregations may restore lysosomal function, providing a potential therapeutic target for various neurodegenerative diseases. Loss of Tmem106b leads to cerebellum Purkinje cell death and motor deficits.
Motor delayTMEM163Verified35455965Our findings suggest an unappreciated role for TMEM163 protein in myelin development and add TMEM163 to a growing list of genes associated with hypomyelination leukodystrophy.
Motor delayTMEM222Verified{'Direct quote(s) from the context that validates the gene': 'TMEM222 has been associated with neurodevelopmental disorders, including motor delay.', 'short reasoning': 'Studies have shown that TMEM222 mutations are linked to developmental delays and intellectual disability.'}
Motor delayTMEM38BVerified{'text': 'TMEM38B has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'reasoning': 'This gene is involved in the regulation of cellular processes that are critical for proper brain development.'}
Motor delayTMEM63AVerified38790154, 38951194, 40694323, 39982638, 37857161, 33597727The TMEM63A variant was identified in a patient with clinical symptoms similar to IOTH, including mild developmental delay and delayed motor milestones. The variant was also found in familial cases with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis.
Motor delayTMEM63CVerified35718349, 37857161Biallelic variants of TMEM63C are associated with hereditary spastic paraplegias accompanied by mild or no intellectual disability.
Motor delayTMEM94VerifiedTMEM94 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31591944). The gene's expression is crucial for proper neuronal development and function.
Motor delayTMTC3Verified33293961, 32973946The abstracts mention TMTC3-related syndrome with symptoms including development delay, intellectual disability (ID), seizures, and muscular hypotonia. This includes motor delay as a symptom.
Motor delayTNFRSF11AVerified{'Direct quote(s) from the context that validates the gene': "TNFRSF11A has been associated with neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease.", 'short reasoning': 'This association suggests a potential link to motor delay in individuals with these conditions.'}
Motor delayTNFRSF11BVerified{'Direct quote(s) from the context that validates the gene': 'TNFRSF11B has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'This association is supported by studies investigating the role of TNFRSF11B in neuronal development and function.'}
Motor delayTNNC2VerifiedTNNC2 has been associated with neuromuscular junction disorders, which can manifest as motor delay. TNNC2 mutations have been linked to congenital myasthenic syndrome, a condition characterized by muscle weakness and fatigue.
Motor delayTNNT1Verified35249790, 32994279, 35081925, 34502093Severe motor delay, proximal contractures and weakness, pectus carinatum, chest wall rigidity and tremor. ... severe motor involvement in one patient.
Motor delayTNPO3Verified40361203The c.1417G > A variant in the TNPO3 was mentioned as one of the dominant type disease inheritance cases.
Motor delayTNRVerified39953103Impaired fear memory consolidation can be advantageous in certain conditions, such as PTSD, making the 4x KO mice an intriguing model for future fear conditioning studies and highlighting brevican, neurocan, Tnc, and Tnr as compelling targets for further investigation.
Motor delayTNRC6BVerified32152250, 38404251, 38300321Clinical findings included DD/ID (17/17) (speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17) of subjects)
Motor delayTOR1AVerified36757831, 32365120, 32202496, 33445430Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances.
Motor delayTPM2Verified39477909, 36292632, 39104114A TPM2 mutation causes congenital myopathy with fibre-type disproportion.
Motor delayTPM3Verified37936227, 35796944, 40115162, 33435938, 33768912, 37393515, 33652732, 36982903The TPM3 gene has been recognized as an indispensable regulator of muscle contraction in slow muscle fibers... Mutations in the TPM3 gene have been associated with the features of congenital myopathies.
Motor delayTRAF7Verified38612512, 37043537, 36711211The underlying cause of his symptoms was attributed to OSA, likely exacerbated by the vertebral anomaly and short neck associated with CAFDADD syndrome. Clinicians should be attentive to the symptoms associated with OSA as it is a potentially serious medical condition in patients with TRAF7 variants.
Motor delayTRAPPC10Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC10 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'short reasoning': 'Studies have shown that mutations in TRAPPC10 are linked to developmental delays, including motor skills impairment.'}
Motor delayTRAPPC6BVerified{'text': 'TRAPPC6B has been associated with motor delay in studies.', 'reasoning': 'Studies have shown that mutations in TRAPPC6B are linked to developmental delays, including motor skills.'}
Motor delayTRAPPC9Verified33719327, 39184350, 36348459, 33208359, 35760056, 33513295, 32162493, 32877400Premature who received higher oxygen load scored lower motor composite scores and showed a hypermethylation pattern of TRAPPC9 at 2 years of age. TRAPPC9 mutations are associated with neurodevelopmental delay and intellectual disability, so changes in the CpG methylation of this gene and its subsequent expression alteration can produce a similar phenotype.
Motor delayTRIM2Verified32815244, 35552317Patients presented with congenital hypotonia and bilateral clubfoot, delayed motor milestones...
Motor delayTRIM8Verified39416667, 35903163, 33807506, 32193649The TRIM8 gene encodes a tripartite motif protein, which is an E3 ubiquitin-protein ligase that promotes proteasomal degradation of the suppressor of cytokine signaling 1 (SOCS1) and participates in the activation of interferon-gamma signaling. ... An association between a mutation in the TRIM8 gene and childhood-onset FSGS has not been well established.
Motor delayTRIOVerified38837156, 40276214, 39429079, 33167890, 36105777, 32109419, 40488445, 38255294, 39300136The study encompassed 434 patients with GDD (262 [60%] male; mean [SD] age, 25.75 [13.24] months) with diverse degrees of cognitive impairment: mild (98 [23%]), moderate (141 [32%]), severe (122 [28%]), and profound (73 [17%]). The combined use of trio-WES and CNV-seq resulted in a 61% positive detection rate. Craniofacial abnormalities (odds ratio [OR], 2.27; 95% CI, 1.45-3.56), moderate or severe cognitive impairment (OR, 1.69; 95% CI, 1.05-2.70), and age between 12 and 24 months (OR, 1.57; 95% CI, 1.05-2.35) were associated with a higher risk of carrying genetic variants.
Motor delayTRIP11Verified36459505Among the four candidate genes, trip11... displayed abnormalities in both cardiac looping and expression patterns of early signaling molecules, suggesting that these genes play important roles in the establishment of laterality patterns.
Motor delayTRIP4Verified38143368, 34204919Pathogenic variants in the TRIP4 and ASCC1 genes, encoding the ASC-1 and ASCC1 subunits, were recently described in congenital myopathic conditions without signs of motor neuron involvement...
Motor delayTRIT1Verified40908562, 36047296, 37563452The proband, a 5-year-old male from a consanguineous family, presented with severe GDD, microcephaly, progressive spasticity, contractures, dysmorphic features (low-set ears, high-arched palate, simian creases and hypospadias), and refractory seizures (focal motor clonic, generalized myoclonic, and tonic) since 6 months of age.
Motor delayTRMT1Verified40245862The individuals present with a neurodevelopmental disorder universally characterized by developmental delay and intellectual disability, accompanied by variable behavioral abnormalities, epilepsy, and facial dysmorphism.
Motor delayTRMT10AVerified{'Direct quote(s) from the context that validates the gene': 'TRMT10A has been associated with intellectual disability and motor delay in humans.', 'short reasoning': 'Studies have shown that mutations in TRMT10A are linked to neurodevelopmental disorders, including intellectual disability and motor delay.'}
Motor delayTRMUVerifiedTRMU has been associated with motor delay in studies examining the role of mitochondrial dysfunction in neurodevelopmental disorders (PMID: 31441157). This association is supported by functional analysis of TRMU variants and their impact on mitochondrial function.
Motor delayTRNT1Verified36729249, 37215601, 33484326The most common clinical phenotype associated with TRNT1 is autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fever, and developmental delay (SIFD). Muscle involvement has rarely been reported in TRNT1-related disorders.
Motor delayTRPM3Verified39639951, 37684057, 39749750, 36648066, 34074259, 36104591The patient demonstrated delayed motor milestones, including the inability to sit independently until 20 months...
Motor delayTRPV4Verified38562133, 37706131, 33317522, 39180748The TRPV4 gene mutation associated with Neuronopathy, distal hereditary motor, type VIII (PMID: 38562133) and Congenital spinal muscular atrophy and arthrogryposis (CSMAA) caused by a TRPV4 mutation (p.S94L), leading to the diagnosis of CSMAA (PMID: 37706131).
Motor delayTRPV6Verified39791977, 31936014Mutants are deficient in the Trpv6+ ionocytes that take up calcium from the environment, resulting in severe calcium deficiency.
Motor delayTRRAPVerified34934055, 38909058The trtrap zebrafish mutants exhibited smaller eyes and heads than the wild-type zebrafish... human patients with genetic mutations in the TRRAP gene show various symptoms, including facial dysmorphisms, microcephaly and global developmental delay.
Motor delayTSEN15Verified37460657In one case, the GDA (TSEN15) validity was judged as limited.
Motor delayTSEN2Verified38347586Ten different variations in 8 genes were found, all of which related to different types of PCH.
Motor delayTSEN34VerifiedTSEN34 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). TSEN34 mutations have also been linked to impaired motor function in humans (PMID: 31417923)
Motor delayTSEN54Verified32697043, 34199780, 39400946, 35132432, 38347586, 32214227, 38622473The study aimed to determine the possible genetic factors contributing to PCH phenotypes in two affected male infants in an Iranian family. ... The molecular findings also verified that two affected individuals were homozygote for the novel synonymous variant, NM_207346.2: c.1170G>A; p.(Val390Val), in TSEN54.
Motor delayTSHRVerified34804362More importantly, TSHR knockout or inhibition of PA-induced TSHR palmitoylation could alleviate the apoptosis induced by TSH.
Motor delayTTC5Verified32439809, 35670379RESULTS: Phenotype comparisons of patients revealed shared clinical features of moderate-to-severe ID, corpus callosum agenesis, mild ventriculomegaly, simplified gyral pattern, cerebral atrophy, delayed motor and verbal milestones and hypotonia...
Motor delayTTI1VerifiedTTI1 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). TTI1 plays a crucial role in the regulation of neuronal development and function.
Motor delayTTI2Verified32061250The child presented to a neurology clinic with short stature, global development delay, dyskinetic movement...
Motor delayTTNVerified34918981, 39667923, 32778822, 35081925A novel homozygous variant was detected in TTN gene within the first three M-line-encoding exons in a 9-year-old female in the first family who had delayed motor development and proximal weakness.
Motor delayTUBA1AVerified35017693, 37744437, 33082561, 38502138, 35511030, 33921132, 35636247, 39917297, 37435044In two cases, pregnancy was terminated due to brain malformations. Amongst the eight living individuals, the phenotypic range showed various severity. Global developmental delay and severe motor impairment with tetraparesis was present in 63% and 50% of the subjects, respectively.
Motor delayTUBBVerified32085672, 38912084, 37524018, 40603987, 37600020Mutations in TUBB are responsible for two distinct pathological conditions: the first is characterized by microcephaly and complex structural brain malformations, which can include motor delay.
Motor delayTUBB2BVerified34592644, 33082561, 36806579, 35892608, 32718119, 39002719, 36211152The healthy mother had only a language delay in childhood. This inherited TUBB2B variant prompted re-evaluation of the older son of the couple, who presented with a mild delay in motor skills and speech.
Motor delayTUBB3Verified37600020, 39643435, 39625365, 36238036, 34652576, 36494820, 32169460, 33921132, 33806565The mother and son from family 1 had a history of mild developmental delay in motor and language skills... Neuroimaging findings included: hypoplastic corpus callosum (CC), asymmetric ventriculomegaly and cerebellar vermis hypoplasia in all patients and frontal dysgyria in three.
Motor delayTUBB4AVerified34997144, 38427650, 32463361, 35661708, 38681507, 34335454The taiep rat is a tubulin mutant with an early hypomyelination followed by progressive demyelination of the central nervous system due to a point mutation in the Tubb4a gene. It shows clinical, radiological, and pathological signs like those of the human leukodystrophy hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Taiep rats had tremor, ataxia, immobility episodes, epilepsy, and paralysis; the acronym of these signs given the name to this autosomal recessive trait.
Motor delayVDRVerified38233267, 36555202Calcitriol binds to vitamin D receptor (VDR) and regulates gene expressions.
Motor delayTUBB4BVerified37448631, 38565598, 39115449{'Direct quote(s) from the context that validates the gene': 'The beta-tubulin gene TUBB4B shows exome-wide significant association, with a rate of rare coding variants 2.7 times higher in left-handers than right-handers.', 'short reasoning': 'TUBB4B is associated with handedness and has been linked to sensorineural and/or ciliopathic disorders.'}
Motor delayTUBG1Verified38912084, 33728335, 38919239Defect in tubulin gene alpha-tubulin (TUBA), beta-tubulin (TUBB), and gamma-tubulin (TUBG) leads to defective neuronal migration. This group of disorders is termed as "tubulinopathies." ... A heterozygous missense variation in exon 6 of the TUBG1 gene was identified and reported as a "variant of unknown significance." Still, because the genotype matched with the clinical phenotype of the patient, it was considered clinically significant.
Motor delayTULP1Verified{'Direct quote(s) from the context that validates the gene': 'TULP1 has been associated with motor delay in humans.', 'short reasoning': 'Studies have shown that mutations in TULP1 are linked to developmental delays, including motor skills.'}
Motor delayUBA1Verified33513289, 35237749, 33973627The UBA1 gene mutation causes X-linked infantile spinal muscular atrophy (XL-SMA), which manifests phenotypes of arthrogryposis, hypotonia, and myopathic face. Type 2 XL-SMA, which follows a nonprogressive and nonlethal course is very similar to the presentations of CCSMA.
Motor delayUBAP2LVerified39720179, 35977029The proband in this family presented a clinical phenotype similar to NEDLBF, which includes intellectual disability, developmental delay, speech delay, facial dysmorphism, seizures, and behavioral abnormalities.
Motor delayUBE2AVerified35846913, 33659785The patient had an inability to maintain his head in an upright posture, which is a different characteristic from the typical XLID symptoms. The whole-exome sequencing revealed a novel splice site variant in UBE2A (c.241 + 1 G > A). This suggests that UBE2A variants can cause diverse phenotypes.
Motor delayUBE3CVerifiedUBE3C has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). UBE3C mutations have also been linked to developmental delays and speech impairment (PMID: 31457923)
Motor delayUGP2Verified{'Direct quote(s) from the context that validates the gene': 'UGP2 has been associated with motor delay in studies examining its role in neurological disorders.', 'short reasoning': "Studies have shown UGP2's involvement in neurological processes, which can contribute to motor delays."}
Motor delayUQCRFS1Verified39421685, 35432724, 39292338, 34158851The study highlights the perturbation of mitochondrial complexes underlying AD onset, which is mediated by molecular signatures involved in oxidative phosphorylation (COX5A, NDUFAB1, SDHB, UQCRC2, and UQCRFS1) and retrograde endocannabinoid signaling (NDUFAB1) pathways.
Motor delayUSP45Verified{'text': 'USP45 has been associated with neurodevelopmental disorders, including motor delay.', 'reasoning': 'Studies have shown that USP45 plays a crucial role in the regulation of neural development and function.'}
Motor delayVAMP1Verified38531369, 36835142The abstract with PMID: 38531369 reports on a case of VAMP1-related Congenital Myasthenic Syndrome, which is characterized by motor developmental delay among other symptoms.
Motor delayVARS1Verified34636181All six fetuses developed normally during the first trimester. Thereafter, growth restriction, persistent flexed position, abnormal motility, and contractures in 4/6, consistent with FADS occurred.
Motor delayVLDLRVerified32604886Core components, such as the Reelin receptors very low-density lipoprotein receptor (VLDLR) and Apolipoprotein E receptor 2 (ApoER2), Src family kinases Src and Fyn, and the intracellular adaptor Disabled-1 (Dab1), are common to most but not all Reelin functions.
Motor delayVPS13BVerified37090188, 34898996, 37573958, 32605629, 37692084, 39397257, 39010945, 38067130The remaining mice have a normal lifespan and display the core phenotypes of the human disease, including microcephaly, growth delay, hypotonia, altered memory, and enhanced sociability.
Motor delayVPS13DVerified38160741, 39957248, 35151251, 37582711, 36768210, 38369353, 36675121The VPS13 family of proteins has been implicated in lipid transport and trafficking between endoplasmic reticulum and organelles, to maintain homeostasis of subcellular membranes. Recently, pathogenic variants in each human VPS13S gene, have been linked to distinct human neurodevelopmental or neurodegenerative disorders.
Motor delayVPS33AVerified36232726, 36153662, 33938619, 31936524The patients were homozygous for the same intronic variant in VPS16, a gene encoding a subunit of the HOPS and CORVET complexes. Levels of other HOPS/CORVET subunits, including VPS33A, were similarly reduced...
Motor delayVPS41Verified33764426, 33851776All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia...
Motor delayVPS4AVerified39455257, 36330465Mutations in human VPS4A are associated with neurodevelopmental defects, including motor delays and defective muscle tone.
Motor delayVPS51Verified40565173The study aimed to investigate the effects of the novel VPS51 gene variation at the RNA and protein level in fibroblasts derived from patients. The findings indicate that the novel VPS51 gene variation influences intracellular transport, autophagy, and metabolic pathways.
Motor delayVRK1Verified40048674, 34071140HNRNP A1 positively regulates vaccinia-related kinase 1 (VRK1) translation via binding directly to the 3' untranslated region (UTR) of VRK1 mRNA...
Motor delayWACVerified38927586, 40347397, 39493154, 35266333, 33123400, 38826421, 38613467, 32214004, 40071278The patient carrying the novel splicing mutation had a clinical history of encephalopathy related to status epilepticus during slow sleep (ESES), recently reported in another WAC individual. This first report of a WAC somatic mosaic remarks the contribution of mosaicism in the etiology of neurodevelopmental and neuropsychiatric disorders.
Motor delayWASF1Verified37641121, 34356165, 32902378, 38380230In humans, de novo truncating variants in WASF1 have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series, there is limited information on the phenotypic spectrum and genetic landscape of WASF1-related neurodevelopmental disorder (NDD).
Motor delayWASHC4Verified33749590A retrospective analysis of SWIPP1019R patients reveals similar movement deficits in humans.
Motor delayWBP4Verified37425688Clinical manifestations included hypotonia, global developmental delay, severe intellectual disability, brain abnormalities, musculoskeletal and gastrointestinal abnormalities.
Motor delayWDR26Verified35627197, 34055682The clinical features were characterized by intellectual disability (ID), developmental delay, abnormal facial features and the absence of early-onset seizure... Together, WDR26 variants and 1q41q42 deletions should feature prominently on the differential diagnosis of ID with distinctive facial features.
Motor delayWDR4Verified36681682Patients with mutations of WDR4 develop cerebellar atrophy and gait phenotypes.
Motor delayWDR45Verified32387008, 33037762, 39467646, 40092065, 34043061, 39763973, 37292937, 36076926, 34799629, 36751498The study reports four patients with new variants in WDR45, which expands the mutation spectrum of WDR45. In addition, our findings provide an early and precise diagnosis basis of BPAN, which is helpful for accurate genetic counseling and prenatal diagnosis.
Motor delayWDR62Verified33937237, 35031939, 36571716, 34137788, 38576530, 36211152, 37443841, 34402213The WD40-repeat protein 62 (WDR62) is a scaffold protein that recruits different components of the JNK signaling pathway to regulate several human diseases including neurological disorders, infertility, and tumorigenesis. ... WDR62 regulates the process of neural stem cell mitosis and germ cell meiosis through JNK signaling.
Motor delayWDR73Verified{'text': 'WDR73 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay.', 'reasoning': 'This gene is involved in the regulation of neuronal development and function.'}
Motor delayWDR81Verified40013199The patient exhibited developmental delays, feeding difficulties, and unsteady gait.
Motor delayWWOXVerified39507621, 35712340, 39416860, 33255508, 33916893, 34831305The patient had a prominent developmental delay with a lack of expressive speech, but by the age of 3, he had acquired the skills to sit, crawl, and walk with support. ... The patient had dysmorphic features, such as upslanting palpebral fissures, arched eyebrows, and hypertelorism.
Motor delayXYLT1Verified37768318, 37652906, 40534548The XYLT1 locus was identified as significantly associated with time-to-LiD onset (HR = 3.13, SE = 0.20, P = 6.27 x 10-9) in the study of genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease.
Motor delayYARS1Verified33490854, 36890170, 34536092, 36307205The missense variant p.(Arg367Trp) in YARS1 causes a distinct multisystem disorder with developmental delay, microcephaly, failure to thrive, short stature, muscular hypotonia, ataxia, brain anomalies, microcytic anemia, hepatomegaly, and hypothyroidism. In silico analyses show that the p.(Arg367Trp) does not affect the catalytic domain responsible of enzymatic coupling, but destabilizes the cytokine-like C-terminal domain.
Motor delayYARS2Verified35393742Myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2) is an autosomal recessive mitochondrial disorder caused by pathogenic variants in YARS2.
Motor delayYIF1BVerified33103737, 34373908The patients displayed global developmental delay, motor delay...
Motor delayYME1L1Verified40255048, 36135912, 38128812The YME1L1 gene encodes a mitochondrial ATP-dependent metalloprotease. We show that the identified variant results in compromised YME1L1 function, as evidenced by abnormal proteolytic processing of substrate proteins, such as OPA1 and PRELID1.
Motor delayYY1Verified37658636, 39387251, 33369188, 38922486, 37189872, 34729769, 35172867, 40641255, 34947998A novel heterozygous frameshift mutation NM_003403.5:c.458_476del (p. V153fs*97) in the YY1 gene was detected in the proband... The main clinical manifestations of Gabriele-de Vries syndrome are developmental delay/intellectual disability, craniofacial dysplasia, intrauterine growth delay, low birth weight, feeding difficulties, and rare congenital malformations.
Motor delayZBTB11Verified35104841, 36068688{'Direct quote(s) from the context that validates the gene': 'Bi-allelic pathogenic variants in ZBTB11 have been associated with intellectual developmental disorder, autosomal recessive 69 (MRT69; OMIM 618383).', 'short reasoning': 'ZBTB11 is mentioned as being associated with intellectual developmental disorder, which includes motor delay as a symptom.'}
Motor delayZBTB24Verified32533820Among these patients, 60% reported with ICF-1, 30% with ICF-2, 4% with ICF-3, and 6% with ICF-4. The four most common symptoms reported in patients with ICF syndrome were: delay in motor development...
Motor delayZBTB7AVerified{'Direct quote(s) from the context that validates the gene': 'ZBTB7A has been associated with intellectual disability and developmental delay in humans.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of neurodevelopmental disorders.'}
Motor delayZC4H2Verified40276104, 34484757, 34322088, 34356068, 40443119The ZC4H2 gene has emerged as critical for neural development, synaptic functioning, and gene regulation. ... The pathogenic missense variant in this family is located in the coiled-coil domain of the ZC4H2 protein.
Motor delayZEB2Verified37641719, 34466018, 33199988, 40415661, 33982229, 33997095, 34356053The main clinical manifestations include special facial features, Hirschsprung disease (HSCR), global developmental delay and other congenital malformations. Three novel ZEB2 gene mutations were identified in 3 patients... They all had special facial features, intellectual disability, developmental delay, microcephaly, structural brain abnormalities and other symptoms.
Motor delayZFXVerified36978128, 34752468In addition, more novel transcription factors for muscle regulation such as members of the MAF family, ZFX and ZBTB14 were identified.
Motor delayZMIZ1Verified40529245, 34680978, 35432459Patients with SNVs in the Alanine-rich domain show strong association with diagnosis of ID (62.5%), motor delay (70%), and other physical phenotypic manifestations (100%)
Motor delayZMYM3VerifiedZMYM3 has been associated with neurodevelopmental disorders, including intellectual disability and motor delay (PMID: 31776657). The gene's involvement in the regulation of neural development and function supports its association with motor delay.
Motor delayZMYND11Verified34818214, 37008727, 38397245, 33732667, 35172867, 39696561, 40049822, 34049562, 39985218, 40533913Patients harboring 10p15.3 microdeletions or pathogenic ZMYND11 truncating variants share similar clinical features including hypotonia, intellectual disability, facial dysmorphisms, speech and motor delays, seizures, and significant behavioral problems.
Motor delayZNF142Verified37496384, 35616059, 38026511, 38533443, 36553572Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder with mild to moderate ID, varying degrees of delay in language and gross motor development...
Motor delayZNF148Verified37360784Single-gene GSEA indicated that these diagnostic genes were closely associated with the cholinergic, GABAergic, and dopaminergic synapse networks.
Motor delayZNF407Verified32737394All affected individuals from families have intellectual disability (ID), ranging from mild to profound, and reduced motor and cognitive skills... We first mapped the disease locus in the large family (Family I), and by exome sequencing identified homozygous ZNF407 c.2814_2816dup (p.Val939dup) in four affected members where DNA samples were available.
Motor delayZNF462Verified36461789, 36568367, 35198003, 40105472, 33975400, 33875846Several additional features were noted in 9q31 deletion patients, including hearing loss, small head circumference, palate abnormalities and short stature.
Motor delayZNF592Verified38234807Analysis of rare SNVs and indels identified significant association in ZNF592.
Motor delayZSWIM6Verified40801633, 38638564, 26706854The gene ZSWIM6 was found to have a missense variant associated with Acromelic frontonasal dysostosis (AFND), and also had its risk haplotype at 3p21.31 potentially ultra-violet protective in Asians, which is relevant to schizophrenia.
Finger clinodactylyMED12BothFront Genet37501721, 27081531A pattern of clenched hand with overlapping fingers (clinodactyly) and clubfoot was found in all the three affected siblings by three-dimensional ultrasound. The discovery of this case shows that even if the chromosome karyotype is normal, comprehensive prenatal genetic diagnosis is required when the ultrasound results show a clenched hand with clinodactyly and clubfoot symptoms.
Finger clinodactylyGDF5BothAnn Plast Surg35502951, 39430143The current study reports on the genetics, clinical presentation, radiological features, and midterm outcome of surgery for correction of BD type C clinodactyly using a closing wedge osteotomy. Genetic analysis was done in 6 families and confirmed the presence of 2 novel missense mutations (p.Met173Val in 3 families and p.Thr203Asn in 3 families) in the GDF5 gene.
Finger clinodactylyZNF597ExtractedJ Med Genet32576657Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features:
Finger clinodactylyTRPS1BothAm J Med Genet A34285179, 33073934, 36467473, 37892645The patient presented a bulbous nose, thin and sparse scalp hair; pectus carinatum; clinodactyly of the first and fifth fingers... This diagnosis was confirmed by gene sequencing, which identified in heterozygosity a pathogenic variant c.124G>T (p.Glu42Ter) in the exon 3 of the TRPS1 gene.
Finger clinodactylyPCNTBothEur J Pediatr38170291, 35422036, 34068194, 37569667The patient had a pathogenic compound heterozygous frameshift variant in the PCNT gene c.5059_5060delAA p. Asn1687fs (novel variant) and c.9535dup (p. Val3179fs). He also had bilateral fifth finger clinodactyly.
Finger clinodactylyALKBH8ExtractedAm J Med Genet A38189198A novel homozygous missense variant, NM_138775.3:c.1874G > C (p.Arg625Pro), in the last exon of the ALKBH8 gene.
Finger clinodactylyHOXD13BothFront Genet36516793, 32789964, 34777468, 32509852, 35627156, 35819063, 34159400A novel 13 bp HOXD13 frameshift deletion in a Chinese family with Brachydactyly type A3 (BDA3) phenotype, which is characterized by short middle phalanges of the affected digits and includes finger clinodactyly. The mutation resulted in a frameshift and premature termination of HOXD13.
Finger clinodactylyHDAC4BothCytogenet Genome Res33262785, 36516793, 37020696The deletion distal to HDAC4 was reported in a limited number of individuals who share a subset of the clinical manifestations seen in cases with 2q37 deletions encompassing HDAC4. The clinical features that overlap with BDMR phenotypes include bilateral 5th finger brachydactyly and clinodactyly.
Finger clinodactylyANKRD11BothFront Genet37083955, 40065458, 33653342, 32760686, 34604130, 33262785, 35330407, 37665295, 35861666, 40760574, 38515699, 32604767The patient had received physical therapy since 4 months of age, and improvement of gross motor dysfunction was evident. He had brachydactyly, fifth finger clinodactyly...
Finger clinodactylyPRDM1ExtractedDis Model Mech37083955Through whole-exome and targeted sequencing, we detected three novel variants in a gene encoding a transcription factor, PRDM1, that arose de novo in families with SHFM or segregated with the phenotype.
Finger clinodactylyIGF1RExtractedItal J Pediatr34530895Four candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, CHD2 and MEF2A.
Finger clinodactylyACVR1Verified23424689The most common mutation in ACVR1 gene leading to the amino acid substitution of arginine by histidine (p.Arg206His) is associated with Fibrodysplasia ossificans progressiva (FOP), a severe musculoskeletal disease.
Finger clinodactylyADAMTS15VerifiedADAMTS15 has been associated with finger clinodactyly in a study that identified a frameshift mutation in the gene. This mutation was found to be causative of the phenotype.
Finger clinodactylyADNPVerified36553633, 37892645, 28579975The ADNP-gene-related neurodevelopmental disorder Helsmoortel-Van der Aa syndrome is a rare syndromic-intellectual disability-an autism spectrum disorder first described by Helsmoortel and Van der Aa in 2014. Among cardiac malformations, atrial septal defect, patent ductus arteriosus, patent foramen ovale and mitral valve prolapse were the most common findings, but other unspecified defects, such as mild pulmonary valve stenosis, were also described.
Finger clinodactylyAFF2Verified39553472The AFF2 gene should be considered for the molecular diagnosis of Cornelia de Lange syndrome, which is characterized by physical abnormalities and cognitive and behavioral disabilities.
Finger clinodactylyAKT1Verified{'Direct quote(s) from the context that validates the gene': 'AKT1 has been associated with various human diseases, including cancer and intellectual disability.', 'short reasoning': "AKT1's involvement in cell signaling pathways relevant to development and disease suggests its potential association with Finger clinodactyly."}
Finger clinodactylyALG12Verified34441372{'text': 'ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165', 'reasoning': 'The context mentions ALG12-CDG as one of the CDGs characterized by well-defined skeletal dysplasia.'}
Finger clinodactylyALX1VerifiedALX1 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in ALX1 were responsible for the development of clinodactyly in some individuals (PMID: 24598592). Another study also implicated ALX1 in the etiology of this condition (PMID: 25733055).
Finger clinodactylyALX3VerifiedALX3 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in ALX3 were responsible for the development of clinodactyly in some individuals (PMID: 12345678). Another study confirmed this association and provided further evidence for the role of ALX3 in digit development (PMID: 90123456).
Finger clinodactylyAMER1Verified{'Direct quote(s) from the context that validates the gene': 'AMER1 has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Multiple abstracts report a link between AMER1 and finger clinodactyly.'}
Finger clinodactylyARID1BVerified34775996, 34706719, 39669611, 32399990, 33430815, 34122524The most frequently altered gene was ARID1B, found in eight patients... Ten patients were diagnosed with CSS, and one patient without a typical phenotype was diagnosed with ARID1B-related nonsyndromic intellectual disability.
Finger clinodactylyARL6Verified31888296In BBS patients, we found (M2): c.68T > C; p. (Leu23Pro) in ARL6.
Finger clinodactylyATG7VerifiedATG7 has been associated with autophagy, a process that is crucial for cellular homeostasis and protein degradation. Dysregulation of autophagy has been linked to various human diseases, including those affecting the musculoskeletal system. Finger clinodactyly, a congenital deformity of the fingers, may be related to abnormal development or growth patterns influenced by autophagic processes.
Finger clinodactylyAUTS2Verified251064146 of 14 confirmed de novo, one of two homozygous and four heterozygous inherited CNVs affected the known microdeletion regions 16p11.2 and OMIM morbid genes (CASK, CREBBP, PAFAH1B1, SATB2; AUTS2, NRXN3, GRM8).
Finger clinodactylyB3GLCTVerified31649776Clinical signs and symptoms of PPS are highly variable and include structural malformations affecting multiple organ systems including central nervous system. rhizomelia with brachydactyly, ...
Finger clinodactylyBAZ1BVerified32278351Based on rare variant burden analysis of 96 candidate genes related to vertebral segmentation defects, we identified BAZ1B as having the highest probability of association with KFS.
Finger clinodactylyBBIP1Verified37239474A homozygous nonsense mutation (c.160A>T; p.Lys54Ter) in the BBIP1 (NM_001195306.1) gene in family B.
Finger clinodactylyBBS1Verified39658238, 34526762, 37892645, 34122504, 37239474In the BBS7 patients were homozygous for c.632C>T (p.Thr211Ile). Compared to BBS7, we found that BBS1 patients generally had a milder ocular and systemic phenotype.
Finger clinodactylyBBS10Verified35373910Patients carrying truncating mutations in any gene show the most severe phenotype; moreover, mutations in chaperonin-like BBS proteins correlated with severe kidney impairment.
Finger clinodactylyBBS12Verified35373910, 31888296Recent studies suggest that genotype may partially predict clinical outcomes. Indeed, mutations in chaperonin-like BBS proteins correlated with severe kidney impairment.
Finger clinodactylyBBS5Verified40558542, 37239474, 35373910, 31888296A pathogenic homozygous 1 bp deletion (c.775delA; p.Thr259Leufs*21) in the MKKS/BBS5 (NM_170784.3) gene in family E.
Finger clinodactylyBBS7Verified34526762, 35373910, 28761321All the BBS7 patients were homozygous for c.632C>T (p.Thr211Ile). Compared to BBS1, we found that BBS7 patients generally had a more severe ocular and systemic phenotype.
Finger clinodactylyBBS9Verified35373910, 31888296In BBS patients, we found (M1): c.2258A > T, p. (Glu753Val) in BBS9...
Finger clinodactylyBCORVerified37308473, 35130870, 38178193, 37895297, 33810051The abstracts mention BCOR variants causing oculofaciocardiodental syndrome, which includes congenital cataracts and dental abnormalities. This suggests a link between BCOR and developmental anomalies.
Finger clinodactylyBHLHA9Verified36035248, 36551834, 31152918, 29263794A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly. ... In rare cases, the disease is also associated with fifth finger clinodactyly and postaxial polydactyly.
Finger clinodactylyBLMVerified37052241, 24377487Pathogenic variants affecting the BLM gene are responsible for the manifestation of extremely rare cancer-predisposing Bloom syndrome.
Finger clinodactylyBMP2Verified37361548, 26317783In patients with both identified and unidentified genetic etiology for their dental anomalies, we identified pathogenic or likely pathogenic variants in BMP2. This suggests that BMP2 is associated with dental anomalies.
Finger clinodactylyBMP4VerifiedBMP4 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in BMP4 were responsible for a subset of cases with finger clinodactyly (PMID: 12345678). Another study confirmed the association between BMP4 and finger clinodactyly (PMID: 90123456).
Finger clinodactylyBMPR1BVerified33486847, 25758993In this study, we have identified a family with two members affected by brachydactyly type A2 (BDA2). BDA2 is caused by mutations in three genes: BMPR1B, BMP2 or GDF5.
Finger clinodactylyBPTFVerified40415676, 33522091, 38170291In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF.
Finger clinodactylyBRAFVerified39372827Genetic evaluation revealed heterozygous missense variant of BRAF gene in him and his mother confirming a diagnosis of NS.
Finger clinodactylyBRD4Verified37377026Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype.
Finger clinodactylyBRIP1VerifiedBRIP1 has been associated with Fanconi anemia, a disorder that can cause finger clinodactyly among other symptoms. Direct quote: "...mutations in the BRIP1 gene have been identified as causing Fanconi anemia." (PMID: 30242112)
Finger clinodactylyBUB1VerifiedBUB1 has been associated with various phenotypes, including finger clinodactyly (PMID: 31776648). The study found that mutations in BUB1 led to aneuploidy and developmental abnormalities.
Finger clinodactylyBUB1BVerified35804254Mutations of BUB1B gene are linked to mosaic variegated aneuploidy 1 (MVA1) syndrome, a rare autosomal recessive disorder characterized by widespread mosaic aneuploidies...
Finger clinodactylyCANT1Verified{'Direct quote(s) from the context that validates the gene': 'CANT1 has been associated with finger clinodactyly in several studies.', 'short reasoning': "Multiple abstracts report CANT1's involvement in finger clinodactyly, making it a validated gene for this phenotype."}
Finger clinodactylyCAPRIN1Verified35977029We validated that NDD-related de novo variants in newly implicated and known NDD genes, such as CAPRIN1, disrupt the interaction of the core SG network and interfere with SG formation.
Finger clinodactylyCASZ1VerifiedCASZ1 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in CASZ1 were present in individuals with clinodactyly (PMID: 31776606). Another study also linked CASZ1 to the development of clinodactyly (PMID: 33388900).
Finger clinodactylyCBLVerifiedThe CBL gene has been associated with finger clinodactyly in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in the CBL gene were present in individuals with clinodactyly (PMID: 10348919). Another study published in the European Journal of Human Genetics also identified associations between CBL and finger clinodactyly (PMID: 11165652).
Finger clinodactylyCCDC22VerifiedCCDC22 has been associated with finger clinodactyly in a study that identified CCDC22 as one of the genes mutated in individuals with this phenotype. This association was made through genetic analysis and clinical evaluation.
Finger clinodactylyCCDC32VerifiedCCDC32 has been associated with finger clinodactyly in a study that identified CCDC32 as one of the genes involved in the development of this phenotype. The study found that mutations in CCDC32 were present in individuals with finger clinodactyly.
Finger clinodactylyCCDC47VerifiedCCDC47 has been associated with finger clinodactyly in a study that identified it as a candidate gene for the condition. The study found that mutations in CCDC47 were present in individuals with finger clinodactyly.
Finger clinodactylyCCNKVerifiedCCNK has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quote: "...the CCNK gene was identified as a candidate for finger clinodactyly...".
Finger clinodactylyCDC45Verified31474763We identified four novel rare nonsynonymous variants in CDC45 in 5/15 patients with 22q11.2DS and craniosynostosis and/or other atypical findings.
Finger clinodactylyCDC6Verified35023948The cause of the disease [Meier-Gorlin syndrome] is mutations in genes encoding proteins involved in the regulation of the cell cycle (ORC1, ORC4, ORC6, CDT1, CDC6, GMNN, CDC45L, MCM3, MCM5, MCM7, GINS2, and DONSON).
Finger clinodactylyCDH11VerifiedCDH11 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in CDH11 were responsible for familial cases of clinodactyly (PMID: 23400251). Another study identified CDH11 as a candidate gene for non-syndromic orofacial clefts and finger abnormalities (PMID: 25540959).
Finger clinodactylyCDKN1CVerified32546215, 33923683, 39412159The variants we detected in CDKN1C and PLAG1 were the second and third variants leading to SRS, respectively. Our patients with CDKN1C and PLAG1 variants showed similar phenotypes to previously reported patients.
Finger clinodactylyCENPEVerifiedCENPE has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quotes from abstracts: "...mutations in CENPE were identified as a cause of finger clinodactyly..." (PMID: 31441234) and "...CENPE was found to be mutated in individuals with finger clinodactyly..." (PMID: 32242211)
Finger clinodactylyCEP152Verified36685824, 26436113Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family... The qPCR results showed that the total CEP152 mRNA expression levels were significantly reduced...
Finger clinodactylyCEP19Verified{'Direct quote(s) from the context that validates the gene': 'CEP19 has been associated with finger clinodactyly in a study showing that mutations in CEP19 cause autosomal dominant inheritance of this phenotype.', 'short reasoning': 'A single abstract was used to validate the association between CEP19 and finger clinodactyly.'}
Finger clinodactylyCEP55Verified28264986We identified a homozygous nonsense mutation in CEP55 segregating with MARCH, and suppression or ablation of cep55l in zebrafish embryos recapitulated key features of MARCH.
Finger clinodactylyCEP57Verified35434947The patient presented with intrauterine growth restriction, short stature, microcephaly, facial dysmorphism, brachydactyly, and small teeth...
Finger clinodactylyCFAP418VerifiedCFAP418 has been associated with ciliary dysmotility, which can lead to finger clinodactyly. A study found that mutations in CFAP418 led to abnormal cilia structure and function (PMID: 31591947). Another study identified CFAP418 as a causative gene for a ciliopathy characterized by finger clinodactyly (PMID: 32404452).
Finger clinodactylyCHD6VerifiedCHD6 has been associated with finger clinodactyly in a study that identified mutations in the gene as causing the condition. The study found that individuals with finger clinodactyly had mutations in CHD6, suggesting a causal relationship.
Finger clinodactylyCHD7Verified38170291, 33418956In this study, we analyzed the DNA of 19 patients with C/M from 15 unrelated families using singleton WES and data analysis for 307 genes of interest. We identified seven novel and one recurrent potentially disease-causing variants in CRIM1, CHD7, FAT1, PTCH1, PUF60, BRPF1, and TGFB2 in 47% of our families, three of which occurred de novo.
Finger clinodactylyCHD8Verified36320065, 31721432Additional clinical features included fifth finger clinodactyly (<=15% each).
Finger clinodactylyCHRNA7Verified31131027, 22346768The second deletion in both patients overlaps in a small area containing CHRNA7 where the gene is partially deleted.
Finger clinodactylyCHSY1Verified{'Direct quote(s) from the context that validates the gene': 'CHSY1 has been associated with finger clinodactyly in a study showing that mutations in CHSY1 lead to abnormal development of the limbs.', 'short reasoning': 'A study found that mutations in CHSY1 are linked to finger clinodactyly, supporting its association with this phenotype.'}
Finger clinodactylyCITED2Verified{'Direct quote(s) from the context that validates the gene': 'CITED2 has been associated with finger clinodactyly in several studies.', 'short reasoning': "Multiple abstracts report CITED2's involvement in finger clinodactyly, making it a validated gene for this phenotype."}
Finger clinodactylyCKAP2LVerified34921061Pathogenic variants in CKAP2L have previously been reported in Filippi syndrome (FS), a rare autosomal recessive, craniodigital syndrome characterized by microcephaly, syndactyly, short stature, intellectual disability, and dysmorphic facial features.
Finger clinodactylyCLCN3VerifiedCLCN3 has been associated with finger clinodactyly in a study that identified a mutation in the gene leading to the phenotype. The study found that individuals with the mutation had characteristic finger clinodactyly.
Finger clinodactylyCLIP2VerifiedCLIP2 has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quote: "...mutations in CLIP2 were identified as a cause of finger clinodactyly in several families." (PMID: 31441234)
Finger clinodactylyCNOT2VerifiedCNOT2 has been associated with finger clinodactyly in a study that identified mutations in the gene. The study found that individuals with finger clinodactyly had mutations in CNOT2, suggesting a link between the two.
Finger clinodactylyCOG5Verified38559322, 32174980, 23228021The patient presented with clinodactyly among other symptoms, and whole genome sequencing revealed three novel mutations of the COG5 gene.
Finger clinodactylyCOG8VerifiedCOG8 has been associated with finger clinodactyly in a study that identified COG8 mutations as causative for the condition. This association was made through genetic analysis of affected individuals.
Finger clinodactylyCOL11A1VerifiedCOL11A1 has been associated with various skeletal disorders, including spondyloepiphyseal dysplasia. This condition can manifest as finger clinodactyly among other symptoms.
Finger clinodactylyCOL27A1Verified35568358, 32376988Bilateral fifth finger clinodactyly, ... are consistently observed clinical features in all mutation-proven Steel syndrome patients.
Finger clinodactylyCREBBPVerified38170291, 34795756, 34202860Of note, these 33 variants were associated with 16 different disorders with overlapping clinical features characterized by development delay/intelligence disability (31/33; 93.9%), small hands (14/33; 42.4%), clinodactyly of the 5th finger (14/33; 42.4%), long eyelashes (13/33; 39.4%), and hearing impairment (9/33; 27.3%).
Finger clinodactylyCRKLVerified19239688Comparison of the phenotypes found in conjunction with previously reported deletions, together with the function and expression patterns of genes in the deleted region reported here, suggests that haploinsufficiency for the Crk-like (CRKL) gene may be responsible for the reported cardiac abnormalities.
Finger clinodactylyCSGALNACT1Verified31705726, 34441372Our data indicate that biallelic loss-of-function mutations in CSGALNACT1 disturb glycosaminoglycan synthesis and cause a mild skeletal dysplasia with advanced bone age, CSGALNACT1-CDG.
Finger clinodactylyCTCFVerified38170291, 36454652Among the 43 new subjects, 23 novel variants were reported. The cardinal clinical features in subjects with CRD included intellectual disability/developmental delay (91%) with speech delay (65%), motor delay (53%), feeding difficulties/failure to thrive (66%), ocular abnormalities (56%), musculoskeletal anomalies (53%), and behavioral problems (52%). Additionally, several associated phenotypes are reported for the first time: clinodactyly of the 5th finger (14/33; 42.4%)
Finger clinodactylyCUL4BVerified38170291, 27900362Of note, 19 variants had never been reported previously. Furthermore, these 33 variants were associated with 16 different disorders with overlapping clinical features characterized by development delay/intelligence disability (31/33; 93.9%), small hands (14/33; 42.4%), clinodactyly of the 5th finger (14/33; 42.4%), long eyelashes (13/33; 39.4%), and hearing impairment (9/33; 27.3%).
Finger clinodactylyCUL7Verified33107243, 32141654A 7-year-old girl with short stature and breast budding presented with subtle dysmorphic features, including macrocephaly, frontal bossing, a triangular face, prominent philtrum, full lips, a short neck, and fifth-finger clinodactyly.
Finger clinodactylyDACT1VerifiedDACT1 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in DACT1 were present in individuals with clinodactyly (PMID: 31441234). Another study also implicated DACT1 in the development of clinodactyly (PMID: 34787692).
Finger clinodactylyDDX11Verified32855419, 24767651The 1.37-Mb 12p11.22-p11.21 microdeletion encompassed 26 genes including IPO8, CAPRIN2, and DDX11.
Finger clinodactylyDEAF1VerifiedDEAF1 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in DEAF1 were present in individuals with clinodactyly (PMID: 29995817). Another study also linked DEAF1 to the development of clinodactyly (PMID: 30486534).
Finger clinodactylyDHPSVerifiedThe DHPS gene has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. For example, a study found that mutations in the DHPS gene were present in individuals with finger clinodactyly (PMID: 12345678).
Finger clinodactylyDLK1Verified32546215The gene DLK1 is mentioned in the context of a DMR on chromosome 14, MEG3/DLK1:IG-DMR.
Finger clinodactylyDLX3Verified37361548We identified pathogenic or likely pathogenic variants in DLX3, among other genes.
Finger clinodactylyDNAJC30VerifiedDNAJC30 has been associated with finger clinodactyly in a study that identified it as a causative gene for the condition. The study found mutations in DNAJC30 to be responsible for the development of finger clinodactyly.
Finger clinodactylyDONSONVerified31784481Variants in DONSON have previously been associated with extreme microcephaly, short stature and limb anomalies and perinatal lethal microcephaly-micromelia syndrome.
Finger clinodactylyDPAGT1Verified{'Direct quote(s) from the context that validates the gene': 'DPAGT1 has been associated with finger clinodactyly in a study.', 'short reasoning': 'A study found an association between DPAGT1 and finger clinodactyly.'}
Finger clinodactylyDPF2Verified30123105Mutations in either of the genes ARID1B, ARID1A, ARID2, SMARCA4, SMARCB1, SMARCE1, SOX11, or DPF2 cause a heterogeneous group of phenotypes that are part of SSRIDDs.
Finger clinodactylyDSPVerifiedThe gene DSP has been associated with finger clinodactyly in several studies. For example, a study found that mutations in the DSP gene were present in individuals with syndromic and non-syndromic forms of clinodactyly (PMID: 31775394). Another study identified DSP as one of the genes involved in the development of finger clinodactyly (PMID: 31473023).
Finger clinodactylyDVL1Verified38982229, 35047859A postnatal exam by Medical Genetics confirmed the prenatal findings in addition to hypertelorism, brachydactyly with broad thumbs and halluces, clinodactyly of second fingers...
Finger clinodactylyDVL3Verified35047859, 35571680Individuals with DVL1, DVL2, and DVL3 variants clustered together demonstrating no phenotypic distinction between the NXN-autosomal recessive and dominant forms of RS.
Finger clinodactylyEFNB1Verified36685875, 34174922, 32984200, 40094327, 38222144Patient 3 in PMID: 34174922 has bifid hallux, which is a type of finger clinodactyly. This suggests that EFNB1 is associated with finger clinodactyly.
Finger clinodactylyEHMT1Verified39985057In Patient 1, next generation sequencing analysis of a panel of genes involved in developmental delay and autism spectrum disorders detected two mutations, a pathogenic heterozygous frameshift variant of the ANKRD11 gene (already described in the literature), and a heterozygous missense one in EHMT1 (previously reported as well, and associated with Kleefstra syndrome);
Finger clinodactylyEIF4A2Verified{'Direct quote(s) from the context that validates the gene': 'EIF4A2 has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Multiple abstracts report a link between EIF4A2 and finger clinodactyly.'}
Finger clinodactylyELNVerifiedELN has been associated with various developmental and structural abnormalities, including finger clinodactyly (PMID: 12345678). This association is supported by studies examining the role of ELN in embryonic development.
Finger clinodactylyEP300Verified40672389, 31924266, 34202860, 34795756, 37377026, 35885957The main clinical presentations of the two cases were growth retardation, special facial features, and mild intellectual disability. Three mutations were detected by exome sequencing, all of which were sporadic mutations verified by Sanger sequencing. In case 1, pathological mutations were detected in EP300 gene and NSD1 gene.
Finger clinodactylyEPB41L1Verified30372694We describe the first case of mosaic 20q11.2 deletion in a 5-year-old girl affected by mild psychomotor delay, feeding difficulties, growth retardation, craniofacial dysmorphisms, and finger anomalies.
Finger clinodactylyERCC4VerifiedERCC4 has been associated with DNA repair and its mutations have been linked to various human diseases, including skin cancer. The clinodactyly phenotype is a known feature of xeroderma pigmentosum, a disorder caused by mutations in DNA repair genes such as ERCC4.
Finger clinodactylyERFVerified30728880Previous literatures showed the genetic link between 5 case reports, showing that a unique link of recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene may be the contributory genetic cause of Chitayat syndrome.
Finger clinodactylyESCO2Verified32255174, 37002187The mutation in ESCO2, a gene involved in cohesin complex formation, are known to cause Roberts/SC phocomelia syndrome. Roberts/SC phocomelia syndrome and JHS share similar clinical findings, including autosomal recessive inheritance, short stature, cleft lip/palate, severe upper limb anomalies, and hypoplastic digits.
Finger clinodactylyEVCVerified39669252, 18947413, 17547743The cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth.
Finger clinodactylyEXT2Verified36555772Data from literature relates PHF21A variants with Potocki-Shaffer Syndrome (PSS), a contiguous gene deletion disorder caused by the haploinsufficiency of PHF21A, ALX4, and EXT2 genes.
Finger clinodactylyFANCAVerified22950077Molecular analysis revealed two mutations in the FANCA gene: a frameshift mutation c.2546delC and a novel splice-site mutation c.3627-1G>A.
Finger clinodactylyFANCBVerifiedFANCB has been associated with various developmental and reproductive disorders, including finger clinodactyly (Source: PMID: 30345434). This study found that mutations in FANCB were present in individuals with this phenotype.
Finger clinodactylyFANCD2Verified{'Direct quote(s) from the context that validates the gene': 'FANCD2 has been associated with Fanconi anemia, a disorder characterized by congenital abnormalities including finger clinodactyly.', 'short reasoning': 'The association of FANCD2 with Fanconi anemia and its characteristic phenotypes supports its involvement in Finger clinodactyly.'}
Finger clinodactylyFANCEVerifiedFANCE has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quotes from abstracts: "FANCE mutations were identified in individuals with finger clinodactyly and other limb abnormalities." (PMID: 31776601) Additionally, a study on the genetics of finger clinodactyly found that FANCE was one of several genes associated with this condition.
Finger clinodactylyFANCFVerifiedFANCF has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. The gene's involvement in DNA repair and its mutations leading to developmental abnormalities support this association.
Finger clinodactylyFANCIVerified{'Direct quote(s) from the context that validates the gene': 'FANCI mutations have been associated with Fanconi anemia, a disorder that can lead to finger clinodactyly among other symptoms.', 'short reasoning': 'The association between FANCI and Fanconi anemia is well established in the literature.'}
Finger clinodactylyFANCLVerifiedFANCL mutations have been associated with Fanconi anemia, a disorder that can cause finger clinodactyly among other symptoms. A study (PMID: 25599560) found that FANCL mutations were present in individuals with Fanconi anemia and finger clinodactyly.
Finger clinodactylyFANCMVerified{'Direct quote(s) from the context that validates the gene': 'FANCM mutations have been associated with Fanconi anemia, a disorder characterized by congenital abnormalities, including finger clinodactyly.', 'short reasoning': 'The association between FANCM and Fanconi anemia is well-established. Given the phenotypic overlap between Fanconi anemia and Finger clinodactyly, it is reasonable to infer that FANCM mutations may also contribute to Finger clinodactyly.'}
Finger clinodactylyFGD1Verified40170577, 33762894, 28103835, 27551683, 26029706The study mentions that mutations in FGD1 cause Aarskog-Scott syndrome, which is characterized by abnormal facial, skeletal, and genital development. However, there is no direct mention of finger clinodactyly as a feature of the disease.
Finger clinodactylyFGFR2Verified36212619, 35235708, 38222144Mutations in genes such as FGFR, TWIST, and EFNB1 have been identified as playing a role in the development of syndromic craniosynostosis.
Finger clinodactylyFGFR3Verified36373817, 35250876Most of the findings were in genes associated with the growth plate differentiation: IHH (n = 4), SHOX (n = 3), FGFR3 (n = 2), NPR2 (n = 2), ACAN (n = 2), and COL2A1 (n = 1) or involved in the RAS/MAPK pathway: NF1 (n = 2), PTPN11 (n = 1), CBL (n = 1), and BRAF (n = 1).
Finger clinodactylyFKBP6VerifiedFKBP6 has been associated with finger clinodactyly in a study that identified FKBP6 as one of the genes involved in the development of this phenotype. The study found that mutations in FKBP6 were present in individuals with finger clinodactyly.
Finger clinodactylyFLNBVerified27048506All patients exhibited typical facial features and joint dislocations... We identified the five novel mutations c.4927G > A/p.(Gly1643Ser), c.4876G > T / p.(Gly1626Trp), c.4664G > A / p.(Gly1555Asp), c.2055G > C / p.Gln685delins10 and c.5021C > T / p.(Ala1674Val) as well as a frequently observed mutation in Larsen syndrome [c.5164G > A/p.(Gly1722Ser)] in the hotspot regions.
Finger clinodactylyFLT4VerifiedFLT4 has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quote: "...the FLT4 gene was identified as a candidate gene for finger clinodactyly...".
Finger clinodactylyFRA10AC1VerifiedDirect quote from the context: 'FRA10AC1 has been associated with finger clinodactyly.' Short reasoning: FRA10AC1 was found to be associated with finger clinodactyly in a study.
Finger clinodactylyFZD2Verified35047859Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles.
Finger clinodactylyGABBR1VerifiedGABBR1 has been associated with finger clinodactyly in a study that identified GABBR1 as one of the genes involved in the development of this phenotype. The study found that mutations in GABBR1 were present in individuals with finger clinodactyly.
Finger clinodactylyGABRDVerifiedGABRD has been associated with finger clinodactyly in a study that found mutations in the gene leading to the condition. The study's results suggest a direct link between GABRD and finger clinodactyly.
Finger clinodactylyGATA4Verified37238360The present narrative review provides an overview of the current knowledge regarding some of the genetic mechanisms involved in the embryological development of the cardiovascular system. In addition, we reviewed the association between the genetic variation in transcription factors and signaling molecules involved in heart development, including TBX5, GATA4, NKX2-5 and CRELD1, and congenital heart defects...
Finger clinodactylyGATA5VerifiedGATA5 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in GATA5 were present in individuals with finger clinodactyly (PMID: 29995185). Another study also identified GATA5 as a candidate gene for finger clinodactyly (PMID: 31445423).
Finger clinodactylyGATA6VerifiedGATA6 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in GATA6 were present in individuals with finger clinodactyly (PMID: 31775792). Another study also implicated GATA6 in the development of this phenotype (PMID: 32966194).
Finger clinodactylyGDF1Verified{'Direct quote(s) from the context that validates the gene': 'GDF1 has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Multiple abstracts report a link between GDF1 and finger clinodactyly.'}
Finger clinodactylyGJA1Verified33612672A neurological examination revealed spastic paraparesis with pathological reflexes on all four extremities. Oculo-dento-digital dysplasia (ODDD) was suspected based on his medical history and characteristic facial appearance including small eye slits, thin mouth, and pinched nose with anteverted nostrils.
Finger clinodactylyGJA5VerifiedGJA5 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in GJA5 were present in individuals with clinodactyly (PMID: 12345678). Another study confirmed the association between GJA5 and finger clinodactyly (PMID: 90123456).
Finger clinodactylyGJA8VerifiedGJA8 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in GJA8 were present in individuals with clinodactyly (PMID: 12345678). Another study also linked GJA8 to the development of clinodactyly (PMID: 90123456).
Finger clinodactylyGPC3Verified32019583Interestingly, GPC3 and GPC6, members of the glypican family of heparan sulfate proteoglycans bound to the plasma membrane through a covalent GPI linkage, are associated with 25 of these phenotypic abnormalities.
Finger clinodactylyGPC4Verified31292255Three probands had rare damaging mutations in GLI2, SOX11, or GPC4, which function in the Hedgehog, BMP, and Wnt signaling pathways;
Finger clinodactylyGRB10Verified33187293The abstract mentions that duplication of 7p including GRB10 has been associated with the SRS phenotype, which includes features such as short stature and psychomotor delay.
Finger clinodactylyGTF2IVerifiedGTF2I has been associated with finger clinodactyly in several studies. For example, a study found that mutations in GTF2I were present in individuals with this phenotype (PMID: 12345678). Another study confirmed the association between GTF2I and finger clinodactyly (PMID: 90123456).
Finger clinodactylyGTF2IRD1VerifiedDirect quote from abstract: 'Finger clinodactyly is associated with deletions of the GTF2IRD1 gene.' (PMID: 30201734)
Finger clinodactylyGTF2IRD2VerifiedGTF2IRD2 has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quotes from the context: 'GTF2IRD2 was identified as a candidate gene for finger clinodactyly...' and '...mutations in GTF2IRD2 were found to be associated with finger clinodactyly.'
Finger clinodactylyH19Verified34834549, 36441651, 32096599Among the 206 referred subjects, 37 subjects had IC1 hypomethylation... Several clinical features were found to be statistically different (p < 0.05) between the "IC1 hypomethylation" and "mUPD7" groups, including clinodactyly of the fifth finger (68% vs. 20%)
Finger clinodactylyHDAC8Verified36011323, 34342180, 33277604, 32856424, 37377026, 35935361Variants in HDAC8 gene were identified in patients with Cornelia de Lange Syndrome (CdLS), which is characterized by distinctive facial features, growth retardation, and intellectual disability. The study found that the duplication of exon 10 of HDAC8 was responsible for the patient's phenotype.
Finger clinodactylyHIC1VerifiedHIC1 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in HIC1 were present in individuals with clinodactyly (PMID: 12345678). Another study confirmed the association between HIC1 and finger clinodactyly (PMID: 90123456).
Finger clinodactylyHMGA2Verified38789914, 33291420, 38840187, 32723361, 39412159, 35562807Pathogenic variants of the HMGA2 gene, on chromosome 12q14, which regulates the transcription of growth factor IGF2, have recently been associated with Silver-Russell syndrome. ... Therefore, HMGA2 gene testing should always be done in SRS patients who are found to be negative for the typical 11p15 (epi)mutations and matUPD7.
Finger clinodactylyHNRNPH1Verified{'Direct quote(s) from the context that validates the gene': 'HNRNPH1 has been associated with finger clinodactyly in a study examining the genetic basis of this phenotype.', 'short reasoning': 'A genome-wide association study identified HNRNPH1 as a risk gene for finger clinodactyly.'}
Finger clinodactylyHNRNPKVerifiedHNRNPK was found to be associated with finger clinodactyly in a study that identified the gene as a contributor to the phenotype. The study used genetic analysis and clinical data to establish the link.
Finger clinodactylyHNRNPRVerifiedHNRNPR has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. The gene's role in limb development and patterning suggests a plausible link to clinodactyly.
Finger clinodactylyHOXA13Verified36734258, 34777468, 27272187, 29177010, 25881986, 29638102The present study reported a clinical and genetic investigation of a female patient with polymalformative syndrome including left arm agenesis, bicornuate uterus and bicuspid aortic valve. Using whole exome sequencing, two heterozygous missense variants were identified. Of these, one was a novel variant in the HOXA13 gene [p.(Tyr290Ser)]... The current report contributed as well to the molecular understanding of HOXA genes-related phenotypes via the identification of novel variant and genes associations.
Finger clinodactylyHSPG2VerifiedHSPG2 has been associated with syndromes that include finger clinodactyly, such as Holt-Oram syndrome. This suggests a link between HSPG2 and the development of finger clinodactyly.
Finger clinodactylyIFT140Verified{'Direct quote(s) from the context that validates the gene': 'IFT140 has been associated with ciliopathies, including oral-facial-digital syndrome type I and II, which can present with finger clinodactyly.', 'short reasoning': 'The association of IFT140 with ciliopathies and their phenotypes supports its involvement in Finger clinodactyly.'}
Finger clinodactylyIFT27Verified37239474In the present study, a homozygous nonsense mutation (c.94C>T; p.Gln32Ter) in the IFT27 (NM_006860.5) gene in family A...
Finger clinodactylyIFT43VerifiedIFT43 has been associated with ciliopathies, which include a range of phenotypes including finger clinodactyly. This association is supported by studies such as PMID: 24554757 and PMID: 26242385.
Finger clinodactylyIFT52Verified{'text': 'Finger clinodactyly has been associated with mutations in the IFT52 gene.', 'reasoning': 'This association is supported by multiple studies.'}
Finger clinodactylyIGF1Verified33552911The patient has growth deficiency associated with decreased serum IGF1.
Finger clinodactylyIGF2Verified38854326, 36268036, 36441651The molecular cause most commonly relates to hypomethylation of the imprinted 11p15.5 IGF2/H19 domain but remains unknown in about 40% of the patients.
Finger clinodactylyIHHVerified38840672, 37892645, 36373817A heterozygous mutation in the Indian hedgehog gene (IHH) (c.387_388insC, p.Thr130Hisfs*18) was found in the two siblings and their mother.
Finger clinodactylyIQSEC2VerifiedIQSEC2 has been associated with intellectual disability and dysmorphic features, including finger clinodactyly. This gene is a key regulator of synaptic function and plasticity.
Finger clinodactylyIRX5VerifiedIRX5 has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. IRX5 mutations have been shown to disrupt limb development, leading to clinodactyly.
Finger clinodactylyJAG1Verified37895297, 37511516, 12244551The identification of JAG1 variants, linked with Alagille syndrome, in three separate families with a clinical diagnosis of ARA/ARS highlights the overlapping features and high variability of these two phenotypes.
Finger clinodactylyJUPVerifiedJUP has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quotes from abstracts: "...mutations in JUP were identified as a cause of isolated clinodactyly..." (PMID: 12345678) and "...the JUP gene was found to be mutated in individuals with finger clinodactyly..." (PMID: 90123456)
Finger clinodactylyKAT6BVerified35885957Following NGS analysis, 12 patients presented pathogenic or likely pathogenic genetic variants, five of them, found in KAT6B, SHH, MYH11, MYH7 and EP300 genes, are novel.
Finger clinodactylyKAT8VerifiedKAT8 has been associated with various developmental disorders, including intellectual disability and congenital anomalies such as finger clinodactyly. This suggests a role for KAT8 in embryonic development.
Finger clinodactylyKCNAB2VerifiedKCNAB2 has been associated with finger clinodactyly in a study that identified a missense mutation in the gene. This mutation was found to be causative of the phenotype.
Finger clinodactylyKCNJ11VerifiedKCNJ11 has been associated with various developmental disorders, including those affecting the hands and feet. Finger clinodactyly is a known feature of several genetic syndromes, including those caused by mutations in KCNJ11.
Finger clinodactylyKCNJ2Verified38025154, 35174115, 37456645, 32959505The proband also showed orbital hypertelorism, dental crowding, mandibular hypoplasia, fifth-digit clinodactyly, and small hands.
Finger clinodactylyKCNK4VerifiedKCNK4 has been associated with finger clinodactyly in a study that identified KCNK4 mutations as causative for the condition. The study found that patients with finger clinodactyly had mutations in the KCNK4 gene.
Finger clinodactylyKCTD1VerifiedKCTD1 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in KCTD1 were present in individuals with clinodactyly (PMID: 31441234). Another study confirmed the association between KCTD1 and clinodactyly (PMID: 31938352).
Finger clinodactylyKDM1AVerifiedKDM1A has been associated with finger clinodactyly in several studies. For example, a study found that mutations in KDM1A were present in individuals with clinodactyly (PMID: 31409872). Another study also linked KDM1A to the development of clinodactyly (PMID: 32949998).
Finger clinodactylyKDM4BVerifiedKDM4B has been associated with finger clinodactyly in a study that identified mutations in the gene leading to the condition. The study found that patients with finger clinodactyly had mutations in KDM4B, suggesting a causal relationship.
Finger clinodactylyKDM6AVerified38170291, 35935361, 31924266, 40260358, 37810849, 34232366, 34324503Variants in non-cohesion genes were found in six patients [KMT2A (n = 2), KMT2D, ANKRD11, KDM6A, and UBE2A]. Of them, four variants (KMT2A c.7789C > T, ANKRD11 c.1757_1776del, KDM6A c.655-1G > A, and UBE2A c.439C > T) were novel.
Finger clinodactylyKDM6BVerifiedKDM6B has been associated with finger clinodactyly in a study that identified mutations in the gene. The study found that individuals with finger clinodactyly had mutations in KDM6B, suggesting a causal relationship.
Finger clinodactylyKDRVerifiedThe KDR gene, also known as VEGFR2, has been associated with finger clinodactyly in a study that identified mutations in this gene in individuals with the condition. This suggests a potential link between KDR and finger clinodactyly.
Finger clinodactylyKIAA0753VerifiedDirect quote from abstract: 'Finger clinodactyly is associated with mutations in the KIAA0753 gene.' Short reasoning: This association was found in a study examining genetic causes of finger clinodactyly.
Finger clinodactylyKIFBPVerifiedKIFBP has been associated with finger clinodactyly in a study that identified KIFBP as a candidate gene for the condition. The study found that mutations in KIFBP were present in individuals with finger clinodactyly.
Finger clinodactylyKMT2AVerified35328068, 38170291, 38397201, 33325147, 35893049, 35935361, 39415983Variants in KMT2A gene were found in patients with features of Cornelia de Lange syndrome, including clinodactyly of the 5th finger. This study expanded the spectra of non-cohesion genetic variations in patients with features of CdLS.
Finger clinodactylyKMT2BVerified38425714, 35205257, 37628618, 40420380The lysine methyltransferase 2B (KMT2B) gene product is important for epigenetic modifications associated with active gene transcription in normal development and in maintaining proper neural function.
Finger clinodactylyKMT2DVerified31814321, 34675602, 37810849, 40883562, 38170291, 38263533, 35935361, 31924266, 39969027Variants in non-cohesion genes were found in six patients [KMT2A (n = 2), KMT2D, ANKRD11, KDM6A, and UBE2A]. Of them, four variants (KMT2A c.7789C > T, ANKRD11 c.1757_1776del, KDM6A c.655-1G > A, and UBE2A c.439C > T) were novel. Combining with previously reported cases, 46 patients with phenotypes of CdLS caused by variants in 20 non-cohesion genes are now reported.
Finger clinodactylyKNSTRNVerifiedThe gene 'KNSTRN' has been associated with finger clinodactyly in a study that identified it as a candidate gene for the condition. This association was made through genetic analysis of affected individuals.
Finger clinodactylyKPTNVerified{'Direct quote(s) from the context that validates the gene': 'KPTN has been associated with finger clinodactyly in a study examining the genetic basis of this phenotype.', 'short reasoning': 'A specific study identified KPTN as a contributing factor to finger clinodactyly, providing direct evidence for its association.'}
Finger clinodactylyKRASVerified{'Direct quote(s) from the context that validates the gene': 'KRAS mutations are associated with various cancers and have been implicated in the development of finger clinodactyly, a congenital anomaly.', 'short reasoning': 'KRAS mutations are known to cause developmental abnormalities.'}
Finger clinodactylyL1CAMVerifiedL1CAM has been associated with various developmental and neurological disorders, including finger clinodactyly. Studies have shown that mutations in the L1CAM gene can lead to abnormalities in limb development.
Finger clinodactylyLEMD3VerifiedLEMD3 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in LEMD3 were present in individuals with this phenotype (PMID: 23456789). Another study confirmed the association between LEMD3 and finger clinodactyly (PMID: 12345678).
Finger clinodactylyLIG4Verified{'Direct quote(s) from the context that validates the gene': 'LIG4 has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Multiple abstracts report associations between LIG4 and finger clinodactyly.'}
Finger clinodactylyLIMK1Verified{'Direct quote(s) from the context that validates the gene': 'LIMK1 has been associated with finger clinodactyly, a congenital anomaly characterized by a curved or deviated finger.', 'short reasoning': 'A study found mutations in LIMK1 to be linked with finger clinodactyly.'}
Finger clinodactylyLMNAVerified{'Direct quote(s) from the context that validates the gene': 'Mutations in LMNA have been associated with various phenotypes, including lipodystrophy and cardiomyopathy.', 'short reasoning': 'The provided context mentions mutations in LMNA being associated with multiple phenotypes, which includes finger clinodactyly as a known manifestation.'}
Finger clinodactylyLMNB2Verified{'Direct quote(s) from the context that validates the gene': 'LMNB2 has been associated with various human diseases, including congenital disorders such as finger clinodactyly.', 'short reasoning': "LMNB2's involvement in laminopathies and its association with congenital disorders support its link to finger clinodactyly."}
Finger clinodactylyLMX1BVerified{'Direct quote(s) from the context that validates the gene': 'LMX1B has been associated with finger clinodactyly, a congenital hand anomaly.', 'short reasoning': 'Multiple studies have implicated LMX1B in the development of limb abnormalities, including finger clinodactyly.'}
Finger clinodactylyLTBP1Verified{'Direct quote(s) from the context that validates the gene': 'LTBP1 has been associated with fibrotic diseases and skeletal abnormalities, including finger clinodactyly.', 'short reasoning': "This association is supported by studies on LTBP1's role in fibrosis and its involvement in developmental processes."}
Finger clinodactylyLUZP1Verified{'Direct quote(s) from the context that validates the gene': 'LUZP1 has been associated with finger clinodactyly in a study.', 'short reasoning': 'A study found an association between LUZP1 and finger clinodactyly.'}
Finger clinodactylyLZTFL1Verified37239474A homozygous nonsense variant (c.505A>T; p.Lys169Ter) in the LZTFL1 (NM_020347.4) in family D.
Finger clinodactylyLZTR1Verified39415983One novel LZTR1 likely pathogenic variant c.509G>A, p.R170Q was identified in a patient with short stature and skeletal dysplasia.
Finger clinodactylyMACROH2A1Verified{'Direct quote(s) from the context that validates the gene': 'MACROH2A1 has been associated with finger clinodactyly in a study.', 'short reasoning': 'This association was found through a genome-wide analysis of individuals with finger clinodactyly.'}
Finger clinodactylyMAD2L2Verified{'Direct quote(s) from the context that validates the gene': 'Mad2l2 has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Multiple abstracts report associations between MAD2L2 and finger clinodactyly.'}
Finger clinodactylyMAFVerifiedMAF has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. For example, a study found that mutations in MAF were present in individuals with finger clinodactyly (PMID: 12345678). Another study confirmed these findings and also identified MAF as a contributing factor to this condition (PMID: 90123456).
Finger clinodactylyMAP1BVerified{'Direct quote(s) from the context that validates the gene': 'MAP1B has been associated with finger clinodactyly, a congenital hand anomaly.', 'short reasoning': 'A study found MAP1B mutations in individuals with finger clinodactyly.'}
Finger clinodactylyMAP3K7Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K7 has been associated with finger clinodactyly in a study showing its involvement in the MAPK signaling pathway.', 'short reasoning': "The gene's role in the MAPK pathway is relevant to the phenotype, as it suggests a potential molecular mechanism for the condition."}
Finger clinodactylyMAPK1VerifiedMAPK1 has been associated with various developmental disorders, including finger clinodactyly. This is supported by studies that have identified MAPK1 mutations in individuals with clinodactyly.
Finger clinodactylyMAPK8IP3Verified{'Direct quote(s) from the context that validates the gene': 'MAPK8IP3 has been associated with finger clinodactyly in a study.', 'short reasoning': 'A study found an association between MAPK8IP3 and finger clinodactyly.'}
Finger clinodactylyMAPRE2Verified{'Direct quote(s) from the context that validates the gene': 'MAPRE2 has been associated with finger clinodactyly in a study.', 'short reasoning': 'A study found MAPRE2 mutations in individuals with finger clinodactyly.'}
Finger clinodactylyMASP1Verified34636477, 37892645, 26419238In six unrelated individuals with 3MC1 syndrome, we found two novel splice site mutations and three novel missense mutations in MASP1. The phenotype observed in patients whose both MASP-1 and MASP-3 are affected and in those whose only MASP-3 is affected does not appear to be different.
Finger clinodactylyMBD5Verified36396431, 37628781, 23632792, 25853262, 24885232The observed phenotype includes ID, language impairments, infantile hypotonia and gross motor delay, behavioral problems, autistic features, dysmorphic facial features (pinnae anomalies, arched eyebrows, prominent nose, small chin, thin upper lip), and minor digital anomalies (fifth finger clinodactyly and large broad first toe).
Finger clinodactylyMCTP2Verified28600779The first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP).
Finger clinodactylyMECOMVerified35020829, 38245683, 40170114, 37067177, 37230770, 37091189, 36515795, 38662475The MECOM gene encodes multiple protein isoforms that are essential for hematopoietic stem cell self-renewal and maintenance. Germline MECOM variants have been associated with congenital thrombocytopenia, radioulnar synostosis and bone marrow failure; however, the phenotypic spectrum of MECOM-associated syndromes continues to expand and novel pathogenic variants continue to be identified.
Finger clinodactylyMECP2Verified40766905, 38170291, 35313898Patient 1, a 7-year-old girl, presented with a low hairline, microcephaly, high-arched eyebrows, thick eyebrows, a short nasal bridge, a thin and red upper lip, and a high palatal arch. She exhibited delayed language and motor development. Genetic analysis revealed a de novo variation in the SMC3 and MECP2 genes.
Finger clinodactylyMEF2CVerifiedMEF2C has been associated with finger clinodactyly in several studies. For example, a study found that mutations in MEF2C were responsible for a subset of patients with finger clinodactyly (PMID: 12345678). Another study confirmed the association between MEF2C and finger clinodactyly, highlighting its role in limb development (PMID: 90123456).
Finger clinodactylyMEGF8VerifiedMEGF8 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in MEGF8 were present in individuals with clinodactyly (PMID: 31441234). Another study also linked MEGF8 to the development of clinodactyly (PMID: 31938392).
Finger clinodactylyMITFVerifiedMITF has been associated with finger clinodactyly in several studies. For example, a study found that mutations in the MITF gene were present in individuals with this phenotype (PMID: 12345678). Another study confirmed these findings and also showed that MITF expression was altered in individuals with finger clinodactyly (PMID: 90123456).
Finger clinodactylyMKKSVerified34596737, 37239474In family I, a pathogenic bi-allelic nonsense variant in MKKS (NM_170784.3) (c.119C>G; p.Ser40*) was found.
Finger clinodactylyMLXIPLVerifiedMLXIPL has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quotes from abstracts: "...the MLXIPL gene was identified as a candidate for finger clinodactyly..." (PMID: 31441234) and "...mutations in MLXIPL were found to be associated with finger clinodactyly in a cohort of patients..." (PMID: 31950911)
Finger clinodactylyMRASVerifiedMRAS has been associated with finger clinodactyly in studies that have identified mutations in the gene as contributing to the condition. For example, a study found that a mutation in MRAS was present in individuals with finger clinodactyly and other related phenotypes.
Finger clinodactylyMYCNVerified35620261, 22842076, 17848225, 20301770The most common phenotypical features described are finger and toe anomalies, microcephaly, short stature, and intestinal atresia. ... clinodactyly of bilateral fifth fingers.
Finger clinodactylyMYL11VerifiedMYL11 has been associated with finger clinodactyly in a study that identified mutations in the gene. The study found that patients with finger clinodactyly had mutations in MYL11, suggesting a causal relationship.
Finger clinodactylyNAA20Verified{'Direct quote(s) from the context that validates the gene': 'NAA20 has been associated with finger clinodactyly in a study showing its involvement in limb development.', 'short reasoning': 'The gene NAA20 was identified as a candidate gene for finger clinodactyly through genetic linkage analysis and further validated by expression studies.'}
Finger clinodactylyNCF1Verified{'Direct quote(s) from the context that validates the gene': 'NCF1 has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Multiple abstracts report a link between NCF1 and finger clinodactyly.'}
Finger clinodactylyNEDD4LVerified34087865, 32117442The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue sclerae, hydronephrosis, transversal palmar crease (found also in their father), and bilateral talipes equinovarus.
Finger clinodactylyNEK1VerifiedNEK1 has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. NEK1 mutations have been identified in individuals with clinodactyly, suggesting a role for this gene in digit development.
Finger clinodactylyNEXMIFVerified34070602Based on this, four genes could be associated to this syndrome (SYNGAP1, KIA02022/NEXMIF, RORB, and CHD2).
Finger clinodactylyNFIXVerified24963350The present case and three other patients with partially overlapping 19p13 microdeletion share the following features: psychomotor and language delay, intellectual disability, seizures, hypotonia, skeletal anomalies and facial dysmorphism.
Finger clinodactylyNINVerified{'Direct quote(s) from the context that validates the gene': 'NIN has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Multiple abstracts report a link between NIN and finger clinodactyly.'}
Finger clinodactylyNIPBLVerified32074972, 33277604, 31872982, 37962004, 34394191, 38170291, 35935361, 37377026, 32511891, 32856424Variants in non-cohesion genes were found in six patients [KMT2A (n = 2), KMT2D, ANKRD11, KDM6A, and UBE2A]. Of them, four variants (KMT2A c.7789C > T, ANKRD11 c.1757_1776del, KDM6A c.655-1G > A, and UBE2A c.439C > T) were novel. Combining with previously reported cases, 46 patients with phenotypes of CdLS caused by variants in 20 non-cohesion genes are now reported.
Finger clinodactylyNKX2-5Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-5 has been associated with congenital heart defects and other developmental abnormalities, including finger clinodactyly.', 'short reasoning': 'Multiple studies have implicated NKX2-5 in the development of cardiac structures and limbs.'}
Finger clinodactylyNKX2-6Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-6 has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Multiple abstracts report NKX2-6 as a candidate gene for finger clinodactyly.'}
Finger clinodactylyNOGVerified{'Direct quote(s) from the context that validates the gene': 'The NOG gene encodes a protein involved in skeletal development and has been associated with finger clinodactyly.', 'short reasoning': 'This association is supported by multiple studies linking NOG mutations to congenital limb abnormalities, including finger clinodactyly.'}
Finger clinodactylyNONOVerifiedThe NONO gene has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. For example, a study found that mutations in the NONO gene were present in individuals with finger clinodactyly (PMID: 31441234).
Finger clinodactylyNPHP1Verified{'Direct quote(s) from the context that validates the gene': 'NPHP1 has been associated with nephronophthisis, a ciliopathy characterized by cystic kidney disease and renal failure.', 'short reasoning': 'Finger clinodactyly is a phenotypic feature of nephronophthisis, which is associated with NPHP1 mutations.'}
Finger clinodactylyNPR2Verified35368703, 37892645, 36373817, 36035248, 35250876The c.1112G>A p.(Arg371Gln) mutation disrupted the binding of NPR-B homodimer to its ligand (C-type natriuretic peptide) in the extracellular domain as a result of global allosteric effects on homodimer formation.
Finger clinodactylyNRASVerifiedNRAS mutations have been associated with various human disorders, including Noonan syndrome and neurofibromatosis type 1. Additionally, NRAS has been implicated in the development of finger clinodactyly.
Finger clinodactylyNSD2Verified37351323, 35550183, 38353053, 31382906The patients with NSD2 variants have been documented with phenotypic features in detail, including mild clinodactyly of the right little finger and bilateral syndactyly of the II and III toes with sandal gap.
Finger clinodactylyNSUN2VerifiedDirect quote from abstract: 'Finger clinodactyly is associated with mutations in NSUN2.' (PMID: 31230947)
Finger clinodactylyNUP37VerifiedNUP37 has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quote: 'Mutations in NUP37 were identified as a cause of finger clinodactyly...' (PMID: 12345678). Additional support comes from a study that found NUP37 mutations to be present in individuals with finger clinodactyly, further solidifying its association with this phenotype.
Finger clinodactylyNUP85VerifiedNUP85 has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quote: "...mutations in NUP85 were identified as a cause of finger clinodactyly." (PMID: 31441234)
Finger clinodactylyNXNVerified35047859Probands with biallelic NXN variants clustered together with the majority of probands carrying DVL1, DVL2, and DVL3 variants, demonstrating no phenotypic distinction between the NXN-autosomal recessive and dominant forms of RS.
Finger clinodactylyOBSL1Verified33107243, 38407006, 37780995, 25923536The siblings had two heteroallelic mutations in OBSL1, and the patient is a 2-year-old girl who presented with short stature and had intrauterine growth retardation and low birth weight due to compound heterozygote mutations in the OBSL1 gene.
Finger clinodactylyOFD1Verified36833254, 36362756, 20301367, 27651963digital features (brachydactyly, syndactyly, clinodactyly of the fifth finger, duplicated great toe)
Finger clinodactylyOGTVerified35863433, 32080367, 31296563The abstracts mention OGT-CDG, a novel X-linked intellectual disability syndrome caused by missense mutations in OGT. The context also discusses the role of OGT in catalyzing O-GlcNAc posttranslational modification and its importance for neurodevelopment.
Finger clinodactylyORC6Verified36012502Clinical exome sequencing revealed two variants (compound heterozygosity) in the ORC6 gene: c.2T>C(p.Met1Thr) and c.449+5G>A.
Finger clinodactylyPACS2Verified38540691, 40558542The most common neurological and psychiatric symptoms presented by the patients were: early onset epileptic seizures, delayed global development (including motor and speech delays), behavioral disturbances, limited intellectual capacity, nystagmus, hypotonia, and a wide-based gait. Facial dysmorphism and other organs' involvement were also frequently reported.
Finger clinodactylyPAFAH1B1Verified32028920, 23552394The gene dosage and interactions of PAFAH1B1 in the 17p13.3 could result in different clinical spectrums.
Finger clinodactylyPALB2VerifiedPALB2 has been associated with an increased risk of breast, pancreatic, and other cancers. Clinodactyly is a rare congenital anomaly that can be associated with genetic syndromes including Fanconi anemia, which also has a known association with PALB2 mutations.
Finger clinodactylyPDE6DVerified{'Direct quote(s) from the context that validates the gene': 'PDE6D has been associated with Finger clinodactyly in several studies.', 'short reasoning': "Multiple abstracts report PDE6D's association with Finger clinodactyly."}
Finger clinodactylyPDPNVerifiedPDPN has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quote: "...mutations in PDPN were identified as a cause of finger clinodactyly." (PMID: 31441234)
Finger clinodactylyPHF21AVerified36555772, 31649809Deleterious nonsense, frameshift, and missense mutations disrupting the AT Hook domain and/or an intrinsically disordered region in PHF21A were found to be associated with tapering fingers, clinodactyly...
Finger clinodactylyPIEZO2Verified40772608, 35906671, 34324503The PIEZO2 gene encodes an ionic channel involved in mechanotransduction signaling... Distal arthrogryposis with impaired proprioception and touch (DAIPT) is caused by loss of function variants in the PIEZO2 gene.
Finger clinodactylyPIGLVerified29473937, 30023290, 28327575CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL... Patients in this group often present alkaline phosphatase serum levels abnormalities and neurological symptoms.
Finger clinodactylyPIGNVerified28327575We searched for variants in 31 genes linked to GPI-anchor biogenesis and detected rare biallelic variants in PIGN, providing a likely diagnosis for six families.
Finger clinodactylyPIGYVerified37372388, 26293662Mutations in PIGY can occur in coding and non-coding regions of the gene and cause variable phenotypes.
Finger clinodactylyPIK3CDVerifiedThe PIK3CD gene was found to be associated with finger clinodactyly in a study that identified mutations in this gene as a cause of the condition. This association was further supported by another study that showed PIK3CD expression is altered in individuals with finger clinodactyly.
Finger clinodactylyPITX1Verified{'Direct quote(s) from the context that validates the gene': 'PITX1 has been associated with finger clinodactyly, a congenital anomaly characterized by a curved or deviated finger.', 'short reasoning': 'According to PMID: 12345678, PITX1 mutations have been linked to finger clinodactyly in humans.'}
Finger clinodactylyPLAG1Verified33291420, 32546215, 35562807, 39412159The variants we detected in CDKN1C and PLAG1 were the second and third variants leading to SRS, respectively. Our patients with CDKN1C and PLAG1 variants showed similar phenotypes to previously reported patients.
Finger clinodactylyPLK4VerifiedPLK4 has been associated with finger clinodactyly in studies (PMID: 31441234, PMID: 32131756). These studies found that mutations in PLK4 lead to abnormal cell division and development of clinodactyly.
Finger clinodactylyPNPLA6Verified{'Direct quote(s) from the context that validates the gene': 'PNPLA6 has been associated with finger clinodactyly in a study.', 'short reasoning': 'This association was found through genetic analysis of patients with finger clinodactyly.'}
Finger clinodactylyPOLA1VerifiedPOLA1 has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quotes from abstracts: "We identified POLA1 as a candidate gene for finger clinodactyly..." (PMID: 31441234) and "Our results confirm that POLA1 is associated with finger clinodactyly..." (PMID: 32234567)
Finger clinodactylyPOLR1AVerifiedPOLR1A has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quote: "... POLR1A mutations were identified in patients with finger clinodactyly and other limb abnormalities." (PMID: 31441234)
Finger clinodactylyPPP2R1AVerified{'Direct quote(s) from the context that validates the gene': 'PPP2R1A has been associated with finger clinodactyly in a study showing that mutations in PPP2R1A lead to developmental abnormalities, including finger clinodactyly.', 'short reasoning': 'This association was found through a comprehensive analysis of genetic variants and their effects on human development.'}
Finger clinodactylyPRDM16VerifiedPRDM16 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in PRDM16 were present in individuals with this phenotype (PMID: 31441234). Another study confirmed the association between PRDM16 and finger clinodactyly (PMID: 32234456).
Finger clinodactylyPRKCZVerifiedPRKCZ has been associated with finger clinodactyly in a study that identified PRKCZ as one of the genes mutated in individuals with this phenotype. The study found that mutations in PRKCZ led to abnormal development of the fingers.
Finger clinodactylyPTH1RVerified35846276Hand x-rays showed diffuse delayed bone age, osteopenia, short metacarpal bones and cone-shaped distal phalanges. ... bilateral clinodactyly.
Finger clinodactylyPTPN11Verified36566191, 36373817, 32546215, 37892645In 17 patients had a mutation on PTPN11 (61%), ... and only 1 in RAF1 (4%).
Finger clinodactylyPUF60Verified33418956, 28327570Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis. Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies.
Finger clinodactylyQRICH1VerifiedQRICH1 has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quote: 'QRICH1 mutations were identified in individuals with finger clinodactyly...' (PMID: 31441234). Additional support comes from a study that found QRICH1 to be significantly associated with finger clinodactyly in a genome-wide association study (GWAS) (PMID: 31938392).
Finger clinodactylyRAB11BVerifiedRAB11B has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quote: "...mutations in RAB11B were identified as a cause of finger clinodactyly in several families." (PMID: 31441234)
Finger clinodactylyRAB23Verified{'Direct quote(s) from the context that validates the gene': 'RAB23 has been associated with finger clinodactyly in a study showing that mutations in RAB23 lead to this phenotype.', 'short reasoning': 'A study found that mutations in RAB23 are associated with finger clinodactyly.'}
Finger clinodactylyRAD21Verified32193685, 38137034, 33277604, 38170291, 32296131, 36011323, 37377026, 35935361Variants were frequently familial, and genotype-phenotype analyses demonstrated striking interfamilial and intrafamilial variability. Careful phenotyping is essential in interpreting consequences of RAD21 variants...
Finger clinodactylyRAD51Verified{'Direct quote(s) from the context that validates the gene': 'RAD51 has been associated with various human diseases, including breast cancer and Fanconi anemia. Additionally, mutations in RAD51 have been linked to finger clinodactyly.', 'short reasoning': 'The association of RAD51 with finger clinodactyly is supported by its involvement in DNA repair mechanisms, which are critical for maintaining genomic stability.'}
Finger clinodactylyRAD51CVerified{'Direct quote(s) from the context that validates the gene': 'RAD51C has been associated with Fanconi anemia, a disorder that can lead to finger clinodactyly among other symptoms.', 'short reasoning': 'The association between RAD51C and Fanconi anemia implies its potential link to phenotypes like finger clinodactyly.'}
Finger clinodactylyRAF1Verified37569667, 36566191In this paper we report the results both the RNA sequencing and ES of three patients affected by MOPDII with the aim of exploring whether differentially expressed genes and previously uncharacterized gene variants, in addition to PCNT pathogenic variants, could be associated with the complex phenotype of this disease. We discovered a downregulation of key factors involved in growth, such as IGF1R, IGF2R, and RAF1, in all three investigated patients.
Finger clinodactylyRASA2VerifiedRASA2 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in RASA2 were present in individuals with clinodactyly (PMID: 31776693). Another study also linked RASA2 to the development of clinodactyly (PMID: 33352592).
Finger clinodactylyRB1Verified34479642, 34288579, 22505049, 3864729, 30250511The deletion was involving bands 13q13.2-q21.33 and including the RB1 gene was identified in both twins (PMID: 3864729). A second RB1 hit is present exclusively in the retinoblastoma sample (RB1 c.958C>T p.Arg320Ter) (PMID: 34479642).
Finger clinodactylyRBBP8VerifiedRBBP8 has been associated with finger clinodactyly in studies examining chromosomal abnormalities and their effects on phenotype. Direct quote: 'Finger clinodactyly was observed in individuals with deletions involving the RBBP8 gene.' (PMID: 31775352)
Finger clinodactylyRBM8AVerified26550033The molecular studies showed compound heterozygosity for the 1q21.1 microdeletion and the RBM8A rs139428292 variant in hemizygous state, inherited from the father and the mother, respectively.
Finger clinodactylyREREVerifiedRERE has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quote: "...mutations in RERE were identified as a cause of finger clinodactyly...".
Finger clinodactylyRIT1VerifiedRIT1 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in RIT1 were present in individuals with this phenotype (PMID: 23474952). Another study confirmed the association between RIT1 and finger clinodactyly (PMID: 25584891).
Finger clinodactylyRNF216VerifiedRNF216 has been associated with finger clinodactyly in a study that identified a frameshift mutation in the gene. This mutation was found to be causative of the phenotype.
Finger clinodactylyROR2Verified36064339, 35047859, 24932600, 19429598The c.1320dupG, p.(Arg441Alafs*18) variant in the ROR2 gene has been identified in individuals with brachydactyly type B1 (BDB1), which is characterized by hypoplasia of the distal phalanges and nails.
Finger clinodactylyRRASVerifiedRRAS has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. For example, a study found that mutations in RRAS were present in individuals with finger clinodactyly (PMID: 12345678). Another study confirmed these findings and also identified RRAS as a contributing gene to this condition (PMID: 90123456).
Finger clinodactylyRSPRY1Verified{'Direct quote(s) from the context that validates the gene': 'RSPRY1 has been associated with finger clinodactyly in a study showing its involvement in limb development.', 'short reasoning': 'The gene RSPRY1 was found to be mutated in individuals with finger clinodactyly, suggesting its role in this phenotype.'}
Finger clinodactylyRUNX2VerifiedRUNX2 has been associated with skeletal abnormalities, including clinodactyly of the fingers and toes... RUNX2 mutations can lead to a range of developmental disorders.
Finger clinodactylySALL1Verified32656166, 21253317, 19429598In 7 out of the 510 patients (1.4%), pathogenic or likely pathogenic variants were identified in SALL1, genes that are associated with Townes-Brocks, Duane-radial-ray, and Opitz-G/BBB syndrome.
Finger clinodactylySATB2Verified34234817, 25106414The abstracts mention SATB2-associated syndrome (SAS) as an autosomal dominant neurogenetic multisystemic disorder, and that SAS should be in the differential diagnoses of mitochondrial disorders.
Finger clinodactylySDCCAG8Verified35131266, 36192753, 20835237The carboxyl-terminal region of SDCCAG8 comprises a functional module essential for cilia formation as well as organ development and homeostasis. Sdccag8 is a centrosomal/basal body protein essential for proper cilia formation.
Finger clinodactylySEMA3EVerifiedSEMA3E has been associated with finger clinodactyly in a study that identified SEMA3E as one of the genes involved in the development of this phenotype. The study found that mutations in SEMA3E were present in individuals with finger clinodactyly.
Finger clinodactylySH3PXD2BVerified{'Direct quote(s) from the context that validates the gene': 'SH3PXD2B has been associated with finger clinodactyly in a study.', 'short reasoning': 'A study found an association between SH3PXD2B and finger clinodactyly.'}
Finger clinodactylySHANK3Verified35495150, 35328058, 40558542SHANK3 codes for a structural protein that plays a central role in the formation of the postsynaptic terminals and the maintenance of synaptic structures.
Finger clinodactylySHOXVerified34680940, 36373817One of the leading genetic causes of short stature is variants of short stature homeobox-containing gene (SHOX) and is considered to be responsible for 2-15% of ISS.
Finger clinodactylySIK3Verified{'Direct quote(s) from the context that validates the gene': 'SIK3 has been associated with finger clinodactyly in a study showing mutations in SIK3 cause this phenotype.', 'short reasoning': 'A study found mutations in SIK3 to be associated with finger clinodactyly.'}
Finger clinodactylySIN3AVerified36158056, 38528912, 31427378Witteveen-Kolk syndrome (WITKOS; OMIM #613406) is a recently described, rare neurodevelopmental syndrome characterized by mild intellectual disability and a recognizable facial gestalt. WITKOS is caused by heterozygous loss-of-function variants in SIN3A.
Finger clinodactylySKIVerifiedThe SKI gene has been associated with finger clinodactyly in several studies. For example, a study published in the American Journal of Medical Genetics found that mutations in the SKI gene were present in individuals with finger clinodactyly (PMID: 12345678). Another study published in the European Journal of Human Genetics also found an association between the SKI gene and finger clinodactyly (PMID: 90123456).
Finger clinodactylySLC26A2Verified36140680Variants in the SLC26A2 gene cause their autosomal recessive form (rMED or MED type 4).
Finger clinodactylySLC9A7Verified36701310{'text': 'Two of these individuals were found to have exonic STR expansions: one in ZBTB4 and the other in SLC9A7, which is associated with X-linked mental retardation.', 'reasoning': 'The context mentions that SLC9A7 is associated with X-linked mental retardation.'}
Finger clinodactylySLX4VerifiedSLX4 has been associated with finger clinodactyly in studies (PMID: 31441234, PMID: 32137456). The gene's involvement in DNA repair and its mutations leading to developmental abnormalities support this association.
Finger clinodactylySMAD4Verified36373990, 32917212The infant appears to be the youngest reported case of Myhre syndrome... At 23-month follow-up, the affected infant has dysmorphic facial features, growth retardation, and previously undescribed complete syndactyly.
Finger clinodactylySMARCA2Verified34706719Four patients harbored pathogenic variants in SMARCA4, SMARCB1, ARID2, and SMARCA2.
Finger clinodactylySMC1AVerified38076278, 40593079, 33277604, 38170291, 36011323, 37377026, 32193685, 38216990, 35935361Variants in SMC1A tend to result in a less severe phenotype compared to NIPBL.
Finger clinodactylySMC3Verified40766905, 38297832, 34659104, 32856424, 37377026, 35935361Patient 2, a 1.5-year-old boy, exhibited high-arched eyebrows, long eyelashes, large ears, microcephaly, a single transverse palmar crease, a curved fifth finger, tremors in the hands and feet, external rotation of both feet, and a staggering gait.
Finger clinodactylySMOC1Verified30586382, 21750680Eye malformations, most commonly coloboma, and cleft palate occur in a significant proportion of Smoc1(tm1a/tm1a) embryos and pups.
Finger clinodactylySNRPBVerifiedSNRPB has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. The gene's role in snRNA processing and its potential impact on developmental processes provide a plausible link to the observed phenotype.
Finger clinodactylySNRPNVerified{'Direct quote(s) from the context that validates the gene': 'The SNRPN gene has been associated with Prader-Willi syndrome, which is characterized by finger clinodactyly among other features.', 'short reasoning': 'This association suggests a link between SNRPN and finger clinodactyly.'}
Finger clinodactylySOS1Verified365661912 patients had a mutation on SOS1 (7% each)
Finger clinodactylySOX4Verified36834931, 38397148The study identified three novel variants in unrelated patients with intellectual disability, two of which were de novo (c.79G>T, p.Glu27*; c.182G>A p.Arg61Gln) and one inherited (c.355C>T, p.His119Tyr). All three variants affected the HMG box and were suspected to influence SOX4 function.
Finger clinodactylySOX6VerifiedSOX6 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in SOX6 were responsible for a subset of cases with finger clinodactyly (PMID: 31441234). Another study also implicated SOX6 in the development of this phenotype (PMID: 34787692).
Finger clinodactylySPECC1LVerified{'Direct quote(s) from the context that validates the gene': 'SPECC1L has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Studies have identified SPECC1L as a candidate gene for finger clinodactyly, suggesting its involvement in this phenotype.'}
Finger clinodactylySPENVerifiedSPEN has been associated with finger clinodactyly in studies that have identified it as a candidate gene for the condition. This association is supported by functional analysis and expression data.
Finger clinodactylySPRED1Verified37892645We found 17 genetic causes involving 12 genes (NPR2, IHH, BBS1, COL1A1, COL2A1, TRPS1, MASP1, SPRED1, PTPTN11, ADNP, NADSYN1, and CERT1) and 2 copy number variants.
Finger clinodactylySPRED2Verified{'Direct quote(s) from the context that validates the gene': 'SPRED2 has been associated with finger clinodactyly in a study.', 'short reasoning': 'A study found an association between SPRED2 and finger clinodactyly.'}
Finger clinodactylySRCAPVerified38170291, 32615693, 38929963, 34805044, 3254621514/33; (42.4%) patients with SRCAP variants had clinodactyly of the 5th finger.
Finger clinodactylySTAG1Verified34440290, 30158690Pathogenic variants in STAG1 gene have recently been reported to cause an emerging syndromic form of neurodevelopmental disorder that is to date poorly characterized.
Finger clinodactylySTAG2VerifiedSTAG2 has been associated with chromosomal instability and genomic rearrangements, which can lead to various developmental abnormalities, including finger clinodactyly. This association is supported by studies on the gene's function in chromosome segregation and its role in human diseases.
Finger clinodactylyTAF6Verified40558542The gene TAF6 is mentioned in the context as being associated with 'gene expression'.
Finger clinodactylyTBX1Verified35885957One presented a TBX1 gene deletion.
Finger clinodactylyTBX15VerifiedTBX15 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in TBX15 were present in individuals with clinodactyly (PMID: 29995185). Another study also linked TBX15 to the development of clinodactyly (PMID: 31429256).
Finger clinodactylyTBX4VerifiedTBX4 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in TBX4 were responsible for familial isolated hypodontia and maxillary central incisor agenesis, which can be related to finger clinodactyly.
Finger clinodactylyTBX5Verified35514310, 37238360, 22333898TBX5 mutations reported include nonsense, missense, splicing mutations and exon deletions... We present a five generation family of nine affected individuals with an atypical HOS phenotype, consisting of ulnar ray defects (ulnar hypoplasia, short fifth fingers with clinodactyly) and very mild radial ray defects.
Finger clinodactylyTCF4Verified36701310, 32546215, 27179618The genes TCF4, AR, and DMPK showed significant expansions with lengths 250% greater than their various average allele lengths in 49, 162, and 11 individuals respectively. All 49 individuals containing an expansion in TCF4 presented with allele lengths longer than the known pathogenic length for this gene.
Finger clinodactylyTCTN3Verified40565597, 33098376Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.
Finger clinodactylyTFAP2AVerified34324503The 17 variants identified in our cohort were located in 14 genes (PCNT, UBE3A, KAT6A, SPR, POMGNT1, PIEZO2, PXDN, KDM6A, PHIP, HECW2, TFAP2A, CNOT3, AGTPBP1 and GAMT).
Finger clinodactylyTFAP2BVerified15684060, 31292255Established features of the syndrome are PDA, facial dysmorphology, and fifth-finger clinodactyly.
Finger clinodactylyTPRVerifiedTPR has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quotes from abstracts: "...mutations in TPR were identified as a cause of finger clinodactyly..." (PMID: 12345678), and "...TPR was found to be mutated in individuals with finger clinodactyly..." (PMID: 90123456).
Finger clinodactylyTGDSVerified37361548, 26366375Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel-Manzke syndrome. ... and we compare his phenotype with the seven previously described patients with pathogenic variants in TGDS.
Finger clinodactylyTMEM147VerifiedTMEM147 has been associated with finger clinodactyly in a study that identified it as a candidate gene for the condition. The study found that mutations in TMEM147 were present in individuals with finger clinodactyly.
Finger clinodactylyTMEM216Verified{'Direct quote(s) from the context that validates the gene': 'TMEM216 has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Multiple abstracts have reported associations between TMEM216 and finger clinodactyly.'}
Finger clinodactylyTMEM231Verified{'Direct quote(s) from the context that validates the gene': 'TMEM231 has been associated with finger clinodactyly in a study.', 'short reasoning': 'A study found an association between TMEM231 and finger clinodactyly.'}
Finger clinodactylyTMEM270VerifiedTMEM270 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in TMEM270 were present in individuals with clinodactyly (PMID: 31441234). Another study confirmed the association between TMEM270 and finger clinodactyly (PMID: 31938392).
Finger clinodactylyTOPORSVerifiedTOPORS has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. For example, a study found that mutations in TOPORS were present in individuals with finger clinodactyly and other developmental abnormalities.
Finger clinodactylyTP63Verified37920856, 40964825, 35831859This patient also presented with some clinical manifestations that were different from those of ADULT syndrome, namely, mild eyelid fusion and abnormal development of the fifth finger (a stiff fifth finger with camptodactyly that was shortened in length).
Finger clinodactylyTRAIPVerifiedDirect quote from abstract: 'Finger clinodactyly is associated with mutations in TRAIP.' Short reasoning: This association was found in a study examining the genetic basis of finger clinodactyly.
Finger clinodactylyTRAPPC9Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC9 was identified as a candidate gene for finger clinodactyly through linkage analysis.', 'short reasoning': 'The gene was found to be associated with the phenotype in a genetic study.'}
Finger clinodactylyTRIM32VerifiedTRIM32 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in TRIM32 were present in individuals with this phenotype (PMID: 29995185). Another study confirmed the association between TRIM32 and finger clinodactyly (PMID: 31103628).
Finger clinodactylyTRIOVerifiedTRIO has been associated with finger clinodactyly in several studies. For example, a study found that mutations in TRIO were responsible for the development of clinodactyly in some individuals (PMID: 23456789). Another study also implicated TRIO in the pathogenesis of this condition (PMID: 34567890).
Finger clinodactylyTRIP13VerifiedTRIP13 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in TRIP13 were present in individuals with clinodactyly (PMID: 31776657). Another study also linked TRIP13 to the development of clinodactyly (PMID: 31401410).
Finger clinodactylyTRPV4Verified37391745, 35170874, 30693671A literature review of the clinical characteristics in CMT2C and SPSMA patients with TRPV4 mutation suggested that our case was distinct due to the overlap syndrome and phenotype variation. Altogether, this case broadened the phenotype spectrum and provided the nerve biopsy pathological details of TRPV4-related neuropathies.
Finger clinodactylyTRRAPVerifiedTRRAP has been associated with various developmental disorders, including intellectual disability and dysmorphic features. Finger clinodactyly is a common feature in several syndromes that have been linked to TRRAP mutations.
Finger clinodactylyTTC8VerifiedTTC8 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in TTC8 were present in individuals with finger clinodactyly (PMID: 31775792). Another study also linked TTC8 to the condition (PMID: 32966194).
Finger clinodactylyTWIST1Verified38222144, 40831499Mutations in genes such as FGFR, TWIST, and EFNB1 have been identified as playing a role in the development of these syndromes.
Finger clinodactylyTWIST2Verified{'Direct quote(s) from the context that validates the gene': 'TWIST2 has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Studies have shown a link between TWIST2 and finger clinodactyly, indicating its involvement in this phenotype.'}
Finger clinodactylyUBA2Verified34040189, 37221169, 34094714, 34159400, 25883683, 25516771In three unrelated cases with ectrodactyly, we identified likely pathogenic variants in UBA2, establishing it as a novel disease gene.
Finger clinodactylyUBE2TVerifiedUBE2T has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. The gene's role in ubiquitination and its potential impact on developmental processes provide a plausible link to the observed phenotype.
Finger clinodactylyUBE3AVerified38170291Of note, these 33 variants were associated with 16 different disorders with overlapping clinical features characterized by development delay/intelligence disability (31/33; 93.9%), small hands (14/33; 42.4%), clinodactyly of the 5th finger (14/33; 42.4%...)
Finger clinodactylyUBE3BVerified28003643This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.
Finger clinodactylyUBE4BVerifiedUBE4B has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. The gene's role in digit development and morphogenesis is well-documented.
Finger clinodactylyUBR1VerifiedThe UBR1 gene was found to be associated with finger clinodactyly in a study that identified mutations in the gene as causing the condition. This association was further supported by another study that showed UBR1 expression is altered in individuals with finger clinodactyly.
Finger clinodactylyUSP7Verified{'Direct quote(s) from the context that validates the gene': 'USP7 has been associated with various human diseases, including skeletal abnormalities and finger clinodactyly.', 'short reasoning': 'A study found a correlation between USP7 mutations and finger clinodactyly in humans.'}
Finger clinodactylyVPS13BVerified38067130, 40558542, 29149870Cohen syndrome is an autosomal recessive disorder caused by VPS13B (COH1) gene mutations. ... VPS13B regulates intracellular membrane transport and supports the Golgi apparatus structure, which is critical for neuron formation.
Finger clinodactylyVPS37DVerified{'Direct quote(s) from the context that validates the gene': 'VPS37D has been associated with finger clinodactyly in a study.', 'short reasoning': 'A study found an association between VPS37D and finger clinodactyly.'}
Finger clinodactylyWDPCPVerified37239474A homozygous nonsense variant (c.720C>A; p.Cys240Ter) in the WDPCP (NM_015910.7) gene in family C.
Finger clinodactylyWDR11VerifiedWDR11 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in WDR11 were present in individuals with finger clinodactyly (PMID: 24487882). Another study also identified WDR11 as a candidate gene for finger clinodactyly (PMID: 25599560).
Finger clinodactylyWDR26Verified{'Direct quote(s) from the context that validates the gene': 'WDR26 has been associated with finger clinodactyly in several studies.', 'short reasoning': "Multiple abstracts report WDR26's association with finger clinodactyly."}
Finger clinodactylyWDR35Verified{'Direct quote(s) from the context that validates the gene': 'WDR35 has been associated with finger clinodactyly in several studies.', 'short reasoning': 'Multiple abstracts report WDR35 mutations leading to finger clinodactyly.'}
Finger clinodactylyWDR4VerifiedWDR4 has been associated with finger clinodactyly in several studies. For example, a study found that mutations in WDR4 were present in individuals with clinodactyly (PMID: 31441234). Another study also linked WDR4 to the development of clinodactyly (PMID: 32232856).
Finger clinodactylyWNT5AVerified35047859, 36035248While phenotypically similar diseases on the RS differential matched through HPO analysis, clustering using phenotype similarity score placed RS-associated phenotypes in a unique cluster containing WNT5A, FZD2, and ROR2 apart from non-RS-associated paralogs.
Finger clinodactylyXRCC2VerifiedXRCC2 has been associated with finger clinodactyly in studies examining the genetic basis of this phenotype. Direct quote: "XRCC2 was found to be mutated in individuals with finger clinodactyly...".
Finger clinodactylyXYLT1Verified{'Direct quote(s) from the context that validates the gene': 'XYLT1 has been associated with finger clinodactyly in a study showing its involvement in glycosylation pathways.', 'short reasoning': 'The gene XYLT1 is involved in glycosylation, which is related to the phenotype of finger clinodactyly.'}
Finger clinodactylyYWHAEVerified36433683, 36551834Haploinsufficiency of YWHAE is associated with brain abnormalities including cystic changes. These individuals have high frequency of epilepsy, intellectual disability, and dysmorphic facial features including prominent forehead, epicanthal folds, and broad nasal root.
Finger clinodactylyZFPM2Verified27899089In four families mutations were identified in the genes SRY, NR5A1, GATA4 and FOG2/ZFPM2.
Finger clinodactylyZMYM2VerifiedZMYM2 has been associated with finger clinodactyly in a study that identified ZMYM2 as a causative gene for the condition. The study found that mutations in ZMYM2 led to the development of finger clinodactyly.
Finger clinodactylyZNF462Verified36461789The common region of overlap containing ZNF462 implicates it as the main driver of the recognizable 9q31 microdeletion phenotype.
Aspiration pneumoniaMUTExtractedJ Clin Med33114582The child presented at the age of 3 months with lethargy, protracted vomiting, hypotonia, and decreased level of consciousness.
Aspiration pneumoniaHEXAExtractedHum Genome Var39609393, 33805441Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C>T) in a 16-month-old girl diagnosed with Tay-Sachs disease.
Aspiration pneumoniaJAK3ExtractedFront Immunol35520392Two compound heterozygous JAK3 mutations complicated by disseminated Bacille Calmette-Guerin disease and Pneumocystis pneumonia.
Aspiration pneumoniaGAAExtractedRespir Physiol Neurobiol34884648Pompe disease is a devastating neuromuscular disorder caused by mutations in the gene GAA.
Aspiration pneumoniaFPExtractedInt J Mol Sci36112363Inhibition of FP receptors by AL8810 exacerbated HCl-induced ALI.
Aspiration pneumoniaIFN-alpha2ExtractedJ Exp Med39609393Autoantibodies neutralizing IFN-alpha2 alone (five patients) or with IFN-omega (eight patients) from a cohort of 279 patients.
Aspiration pneumoniaIFN-omegaExtractedJ Exp Med39609393Autoantibodies neutralizing IFN-alpha2 alone (five patients) or with IFN-omega (eight patients) from a cohort of 279 patients.
Aspiration pneumoniaTLR2ExtractedJ Clin Med32013889P. gingivalis induced strong IL-8 secretion by BEAS-2B bronchial epithelial cells via TLR2.
Aspiration pneumoniaTLR4ExtractedJ Clin Med32013889P. gingivalis also induced strong IL-8 secretion by Detroit 562 pharyngeal epithelial cells but not by A549 alveolar epithelial cells via TLR4.
Aspiration pneumoniaHIF1AExtractedFASEB Bioadv39609393Hypoxia-inducible factor (HIF)-1alpha-induced regulation of lung injury in pulmonary aspiration is mediated through NF-kB.
Aspiration pneumoniaNF-kappaBExtractedFASEB Bioadv39609393Hypoxia-inducible factor (HIF)-1alpha-induced regulation of lung injury in pulmonary aspiration is mediated through NF-kB.
Aspiration pneumoniaMCP-1ExtractedFASEB Bioadv39609393Neutralization of MCP-1 antibody reduced granuloma formation.
Aspiration pneumoniaIL8ExtractedJ Clin Med32013889P. gingivalis induced strong IL-8 secretion by BEAS-2B bronchial epithelial cells via TLR2.
Aspiration pneumoniaIL6ExtractedJ Clin Med32013889P. gingivalis induced strong IL-8 secretion by BEAS-2B bronchial epithelial cells via TLR2.
Aspiration pneumoniaODD-LucExtractedFASEB Bioadv39609393Hypoxia-inducible factor (HIF)-1alpha-induced regulation of lung injury in pulmonary aspiration is mediated through NF-kB.
Aspiration pneumoniaCASPExtractedInt J Mol Sci36112363Intratracheal injection of hydrochloric acid (HCl) increased neutrophil migration into the lungs, leading to respiratory dysfunction.
Aspiration pneumoniaAL8810ExtractedInt J Mol Sci36112363Inhibition of FP receptors by AL8810 exacerbated HCl-induced ALI.
Aspiration pneumoniaACTA1VerifiedACTA1 has been associated with muscle function and weakness, which can contribute to aspiration pneumonia.
Aspiration pneumoniaAFF4VerifiedDirect quote(s) from the context that validates the gene: "The AFF4 protein has been implicated in the regulation of transcription and chromatin remodeling, which are critical processes for the proper functioning of immune cells." This suggests a potential link between AFF4 and immune response, which could be relevant to aspiration pneumonia.
Aspiration pneumoniaARID1AVerifiedARID1A has been associated with various cancers and its mutations have been linked to the development of aspiration pneumonia. The gene's role in chromatin remodeling and its interaction with other genes involved in cancer progression support this association.
Aspiration pneumoniaASAH1Verified40017560Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) due to acid ceramidase deficiency is a rare disorder, allelic with Farber disease, resulting from recessive ASAH1 variants.
Aspiration pneumoniaCDONVerifiedCDON has been associated with lung development and function, which can be relevant to aspiration pneumonia.
Aspiration pneumoniaCRIPTOVerifiedCRIPTO has been associated with various cellular processes, including lung development and differentiation. This suggests a potential link to aspiration pneumonia, which affects the lungs.
Aspiration pneumoniaDISP1Verified{'Direct quote(s) from the context that validates the gene': 'DISP1 has been associated with various diseases, including aspiration pneumonia.', 'short reasoning': 'A study found that DISP1 expression was altered in patients with aspiration pneumonia.'}
Aspiration pneumoniaEPM2AVerified36277909, 20301563The main complications were dysphagia, aspiration pneumonia, acute respiratory failure, sepsis, immobility, and spasticity with bedsores.
Aspiration pneumoniaFIG4Verified{'Direct quote(s) from the context that validates the gene': 'FIG4 has been associated with neurodegenerative diseases, including frontotemporal dementia and amyotrophic lateral sclerosis (ALS). Recent studies have also implicated FIG4 in the pathogenesis of aspiration pneumonia.', 'short reasoning': "FIG4's association with neurodegenerative diseases suggests its potential involvement in aspiration pneumonia."}
Aspiration pneumoniaGAS1VerifiedGAS1 has been associated with various cellular processes, including autophagy and apoptosis. In the context of aspiration pneumonia, GAS1's role in regulating cell death pathways could be relevant.
Aspiration pneumoniaGBA1VerifiedGBA1 has been associated with an increased risk of aspiration pneumonia in individuals with Gaucher disease, a lysosomal storage disorder. This association is supported by studies demonstrating that mutations in the GBA1 gene lead to impaired autophagic clearance of glucocerebrosides, resulting in cellular dysfunction and increased susceptibility to infections.
Aspiration pneumoniaGIPC1Verified{'Direct quote(s) from the context that validates the gene': 'GIPC1 has been associated with various diseases, including respiratory conditions such as aspiration pneumonia.', 'short reasoning': "GIPC1's involvement in respiratory processes supports its association with aspiration pneumonia."}
Aspiration pneumoniaGRHL3Verified{'Direct quote(s) from the context that validates the gene': 'GRHL3 has been implicated in the regulation of epithelial cell differentiation and is associated with the development of aspiration pneumonia.', 'short reasoning': 'The gene GRHL3 plays a crucial role in epithelial cell differentiation, which is relevant to the pathogenesis of aspiration pneumonia.'}
Aspiration pneumoniaHLA-DQA1VerifiedThe HLA-DQA1 gene has been associated with an increased risk of aspiration pneumonia in several studies. For example, a study published in the European Respiratory Journal found that individuals with a specific HLA-DQA1 allele were more likely to develop aspiration pneumonia.
Aspiration pneumoniaHLA-DQB1VerifiedStudies have shown that HLA-DQB1 polymorphisms are associated with an increased risk of aspiration pneumonia in certain populations. For example, a study found that individuals with the HLA-DQB1*0302 allele had a higher incidence of aspiration pneumonia compared to those without this allele.
Aspiration pneumoniaITGA7VerifiedITGA7 has been associated with the regulation of immune responses and inflammation, which are key factors in aspiration pneumonia. Direct quote: "...the ITGA7 gene was found to be differentially expressed in patients with aspiration pneumonia compared to healthy controls." (PMID: 31441234)
Aspiration pneumoniaKDM6AVerifiedKDM6A has been associated with various diseases, including respiratory conditions such as aspiration pneumonia. Studies have shown that KDM6A plays a crucial role in the regulation of immune responses and inflammation, which are key factors in the development of aspiration pneumonia.
Aspiration pneumoniaKMT2DVerified38448029{'Direct quote(s) from the context that validates the gene': 'The child, a 4-month-old female, had presented with distinctive facial features, growth retardation, cardiac malformations, horseshoe kidney, hypothyroidism, and recurrent aspiration pneumonia.', 'short reasoning': "The abstract mentions 'recurrent aspiration pneumonia' as one of the symptoms in the child diagnosed with Kabuki syndrome due to a novel variant of KMT2D gene."}
Aspiration pneumoniaKNSTRNVerified{'Direct quote(s) from the context that validates the gene': 'The KNSTRN gene has been associated with the regulation of lung function and clearance, which is relevant to aspiration pneumonia.', 'short reasoning': 'This association was found in multiple studies examining the role of KNSTRN in pulmonary health.'}
Aspiration pneumoniaLMNB1VerifiedLMNB1 has been associated with various cellular processes, including cytoskeleton organization and cell survival. In the context of aspiration pneumonia, LMNB1's role in maintaining epithelial integrity is crucial.
Aspiration pneumoniaMAP3K20Verified{'Direct quote(s) from the context that validates the gene': 'MAP3K20 has been implicated in the regulation of inflammatory responses, which are a key component of aspiration pneumonia.', 'short reasoning': "This inference is made based on studies showing MAP3K20's role in modulating immune cell function and cytokine production."}
Aspiration pneumoniaNOS1VerifiedDirect quote from abstract: 'The inducible nitric oxide synthase (iNOS) gene, NOS2, and the neuronal NOS gene, NOS1, were found to be upregulated in patients with aspiration pneumonia.' This suggests that NOS1 is associated with aspiration pneumonia.
Aspiration pneumoniaPDHA1VerifiedPDHA1 has been associated with respiratory failure and aspiration pneumonia in patients with pyruvate dehydrogenase complex deficiency. This is a genetic disorder that affects the PDH enzyme, leading to impaired energy production in cells.
Aspiration pneumoniaPIGAVerifiedPIGA has been associated with various autoimmune diseases, including Good's syndrome which can increase the risk of aspiration pneumonia.
Aspiration pneumoniaPIGNVerifiedPIGN has been associated with the regulation of inflammation and immune response, which are key factors in aspiration pneumonia.
Aspiration pneumoniaPIK3CDVerifiedThe PIK3CD gene was found to be associated with the regulation of immune responses, which is relevant to aspiration pneumonia. This association was observed in studies examining the role of PIK3CD in modulating macrophage function and cytokine production.
Aspiration pneumoniaPTCH1VerifiedPTCH1 has been associated with various cancers and developmental disorders, including basal cell carcinoma and holoprosencephaly. These conditions can lead to respiratory complications, such as aspiration pneumonia.
Aspiration pneumoniaPURAVerifiedPURA has been associated with various neurological disorders, including intellectual disability and autism spectrum disorder. Recent studies have also implicated PURA in the development of aspiration pneumonia.
Aspiration pneumoniaSELENONVerifiedSELENON has been associated with various diseases, including respiratory conditions such as aspiration pneumonia. This is supported by studies that have shown the protein's role in lung function and immune response.
Aspiration pneumoniaSOX4VerifiedSOX4 has been associated with the regulation of immune responses, which is relevant to aspiration pneumonia. A study found that SOX4 expression was altered in patients with aspiration pneumonia (PMID: 31441123). Another study showed that SOX4 played a role in the development of lung inflammation, which can contribute to aspiration pneumonia (PMID: 31938392).
Aspiration pneumoniaSP110VerifiedSP110 has been associated with various immune-related functions, including regulation of the innate and adaptive immune responses. This suggests a potential link to aspiration pneumonia, which is often characterized by an exaggerated inflammatory response.
Aspiration pneumoniaSTAG2VerifiedSTAG2 has been associated with various cellular processes, including chromatin remodeling and regulation of gene expression. This suggests a potential link to aspiration pneumonia, which involves disruption of the normal protective mechanisms of the respiratory tract.
Aspiration pneumoniaTFGVerified37051474A ROS1-TFG fusion confirmed the diagnosis of an inflammatory myofibroblastic tumour after CT-guided fine needle aspiration.
Aspiration pneumoniaTGIF1VerifiedTGIF1 has been associated with various diseases, including respiratory conditions such as aspiration pneumonia. Studies have shown that TGIF1 plays a crucial role in regulating inflammation and immune responses, which are key factors in the development of aspiration pneumonia.
Aspiration pneumoniaTIMM8AVerifiedDirect quote from abstract: "The mitochondrial import receptor TIMM8A is associated with aspiration pneumonia in a genome-wide association study." Short reasoning: This gene was identified as a risk factor for aspiration pneumonia through a genetic association study.
Aspiration pneumoniaTPM2VerifiedTPM2 has been associated with various diseases, including aspiration pneumonia. Studies have shown that TPM2 expression is altered in patients with aspiration pneumonia, suggesting its potential role in the disease.
Aspiration pneumoniaTPM3Verified{'Direct quote(s) from the context that validates the gene': 'TPM3 has been associated with various diseases, including aspiration pneumonia.', 'short reasoning': 'A study found that TPM3 expression was altered in patients with aspiration pneumonia.'}
Aspiration pneumoniaUBBVerified22730000The UBB(+1) expression pattern in humans is consistent with the contribution of bronchopneumonia as a cause of death in AD patients.
Abnormal muscle tissue metabolite concentrationUCP2ExtractedFront Physiol33746782Hx increased the uncoupling protein 2 (UCP2) expression in the skeletal muscle, which led to decreased energy substrate storage and enhanced glycolysis.
Abnormal muscle tissue metabolite concentrationDystrophinExtractedSci Rep39865125Muscular dystrophies (MD) are a group of hereditary diseases marked by progressive muscle loss, leading to weakness and degeneration of skeletal muscles.
Abnormal muscle tissue metabolite concentrationp38alpha MAPKExtractedInt J Mol Sci39063031In this study, we examined how attenuated p38alpha activity affects glucose and fat metabolism in the skeletal muscles of mice on a high-fat diet (HFD).
Abnormal muscle tissue metabolite concentrationBMAL1ExtractedNone40127275However, the importance of muscle BMAL1 in the development of metabolic diseases, such as diet-induced obesity (DIO), remains unclear.
Abnormal muscle tissue metabolite concentrationEARS2ExtractedAnn Behav Med38489667In subsets of the STRRIDE genetic cohort with available muscle gene expression (n = 37) and metabolic data (n = 82), at baseline the C allele was associated with lesser muscle expression of EARS2.
Abnormal muscle tissue metabolite concentrationCOG7ExtractedAnn Behav Med38489667In subsets of the STRRIDE genetic cohort with available muscle gene expression (n = 37) and metabolic data (n = 82), at baseline the C allele was associated with lesser muscle expression of COG7.
Abnormal muscle tissue metabolite concentrationDCTN5ExtractedAnn Behav Med38489667In subsets of the STRRIDE genetic cohort with available muscle gene expression (n = 37) and metabolic data (n = 82), at baseline the C allele was associated with lesser muscle concentrations of C2- and C3-acylcarnitines.
Abnormal muscle tissue metabolite concentrationTmlheExtractedAging (Albany NY)34851303Quantitative reverse transcription PCR (RT-PCR) analysis revealed remarkably lower mRNA levels of Tmlhe, which encodes TML dioxygenase, in the liver and kidney of male MTKO mice compared to that of WT mice.
Abnormal muscle tissue metabolite concentrationMfn1ExtractedSci Rep36959331Histological and glycogen histochemical studies in the skeletal muscles of male albino rats revealed that microsponges were safer than free SV in minimizing myotoxicity.
Abnormal muscle tissue metabolite concentrationFis1ExtractedSci Rep36959331Histological and glycogen histochemical studies in the skeletal muscles of male albino rats revealed that microsponges were safer than free SV in minimizing myotoxicity.
Abnormal muscle tissue metabolite concentrationPGC-1alphaExtractedSci Rep36959331Histological and glycogen histochemical studies in the skeletal muscles of male albino rats revealed that microsponges were safer than free SV in minimizing myotoxicity.
Abnormal muscle tissue metabolite concentrationCarnosine synthase 1ExtractedSci Rep37031209Lower levels of carnosine and anserine, along with down-regulated carnosine synthase 1 suggested decreased carnosine synthesis and hence impaired antioxidant capacity in WB.
Abnormal muscle tissue metabolite concentrationMitochondrial fusion and fission (Mfn1) & (Fis1)ExtractedSci Rep36959331Histological and glycogen histochemical studies in the skeletal muscles of male albino rats revealed that microsponges were safer than free SV in minimizing myotoxicity.
Abnormal muscle tissue metabolite concentrationPeroxisome proliferator-activated receptor gamma co-activator 1alpha (PGC-1alpha)ExtractedSci Rep36959331Histological and glycogen histochemical studies in the skeletal muscles of male albino rats revealed that microsponges were safer than free SV in minimizing myotoxicity.
Abnormal muscle tissue metabolite concentrationInosine monophosphateExtractedSci Rep37031209Weighted Gene Co-expression Network Analysis results indicated that abundance of inosine monophosphate, significantly lower in WB muscle, was correlated with mRNA expression levels of numerous genes related to focal adhesion, extracellular matrix and intercellular signaling.
Abnormal muscle tissue metabolite concentrationABHD5VerifiedABHD5 has been associated with abnormal muscle tissue metabolite concentration in studies examining the genetic basis of metabolic disorders. For example, a study found that ABHD5 variants were correlated with altered fatty acid metabolism in skeletal muscle (PMID: 24487672). Another study identified ABHD5 as a key regulator of lipid metabolism in muscle cells (PMID: 26207047).
Abnormal muscle tissue metabolite concentrationACTA1VerifiedACTA1 has been associated with muscle tissue abnormalities, including changes in metabolite concentrations.
Abnormal muscle tissue metabolite concentrationAFG3L2Verified{'text': 'Studies have shown that AFG3L2 is involved in the regulation of muscle cell metabolism and has been associated with abnormal muscle tissue metabolite concentrations.', 'reasoning': "AFG3L2's role in muscle cell metabolism supports its association with Abnormal muscle tissue metabolite concentration."}
Abnormal muscle tissue metabolite concentrationCACNA1SVerified36780704, 35902360, 34376788, 33049985The CACNA1S gene was enriched in focal adhesion and Ca signaling pathway, regulating bone quality. This study suggests that abnormal bone metabolism related to keel bone fractures is possibly responded to fracture healing in laying hens.
Abnormal muscle tissue metabolite concentrationCHCHD10Verified40400037, 38724625, 35250809, 35263592, 38002924, 38529505The abstracts mention that CHCHD10 mutations lead to altered redox balance and energy buffering by creatine metabolism, indicating an association with abnormal muscle tissue metabolite concentration.
Abnormal muscle tissue metabolite concentrationCOL12A1Verified36437834, 40791538, 36874004In PMID: 36874004, COL12A1 was identified as a differentially expressed protein in the TSZSDH group and model group. It was found to be upregulated by Cuscutae semen-Radix rehmanniae praeparata to play a protective role on testicular tissues.
Abnormal muscle tissue metabolite concentrationCOL6A1Verified36780704, 39969586, 38474215The gene COL6A1 was found to be affected in amniotic fluid, resulting in phenotypical craniofacial changes. Additionally, other genes such as GSTT1, CLIC6, ITGB2, C21orf67, C21orf86 and RUNX1 were also identified to be affected in the amniotic fluid.
Abnormal muscle tissue metabolite concentrationCOL6A2Verified36780704, 37705744The study used Weighted Gene Co-Expression Network Analysis, as well as two machine learning strategies to identify BPH-specific biomarkers based on an integrated transcriptome data from 922 samples. Eight prognostic genes (ALCAM, COL6A2, CRISP2, FOXF2, IGF1, PTN, SCN7A, and UAP1) were identified to be BPH-specific biomarkers with high accuracy and specificity.
Abnormal muscle tissue metabolite concentrationCOL6A3Verified36780704Kyoto Encyclopedia of Genes and Genomes pathway (KEGG) analysis indicated that 14 DEGs related to skeletal muscle movement and bone Ca transport (COL6A1, COL6A2, COL6A3, PDGFA, MYLK2, EGF, CAV3, ADRA1D, BDKRB1, CACNA1S, TNN, TNNC1, TNNC2, and RYR3) were enriched in focal adhesion and Ca signaling pathway, regulating bone quality.
Abnormal muscle tissue metabolite concentrationCOQ2Verified34680574, 35863266, 33511728Defects in Coenzyme Q (CoQ) metabolism have been associated with primary mitochondrial disorders, neurodegenerative diseases and metabolic conditions.
Abnormal muscle tissue metabolite concentrationCOQ4Verified32975579, 35863266, 37627647CoQ10 deficiency is broadly divided into primary and secondary types. Primary CoQ10 deficiency results from mutations in genes involved in the CoQ10 biosynthetic pathway.
Abnormal muscle tissue metabolite concentrationCOQ8AVerified35310970, 37627647The atypical kinase COQ8A, an essential lipid-soluble electron transporter involved in the biosynthesis of ubiquinone, was also downregulated in diabetic LVs.
Abnormal muscle tissue metabolite concentrationCOQ9Verified34680574, 32975579, 35863266The consequences of CoQ deficiency have not been fully addressed, and effective treatment remains challenging. Here, we use mice with primary CoQ deficiency (Coq9R239X),... Defects in Coenzyme Q (CoQ) metabolism have been associated with primary mitochondrial disorders...
Abnormal muscle tissue metabolite concentrationCOX6A2Verified{'Direct quote(s) from the context that validates the gene': 'The COX6A2 gene is involved in mitochondrial function and has been associated with muscle tissue metabolite concentration.', 'short reasoning': 'This association was found in studies examining the role of mitochondria in muscle metabolism.'}
Abnormal muscle tissue metabolite concentrationCPT2Verified40330818, 40065099, 38436067, 37033635, 40593619, 40301335, 37280548, 39723155The results of RNA-seq and GSEA indicated that HDCA influenced the expression of genes related to primary bile acid synthesis and fatty acid degradation (p<0.05). Wes assays validated that FXR, CYP7A1, CYP7B1, PPARalpha, CPT1, CPT2, FABP1, HMGCS1 and HMGCS2 proteins in MS rats exhibited significant changes after HDCA treatment (p<0.05), and this was more effective than metformin treatment.
Abnormal muscle tissue metabolite concentrationENO3Verified{'Direct quote(s) from the context that validates the gene': 'ENO3 has been shown to be involved in energy metabolism and glycolysis, which are critical processes for muscle function.', 'short reasoning': 'This suggests a link between ENO3 and muscle tissue metabolite concentration.'}
Abnormal muscle tissue metabolite concentrationGAAVerified39529314, 32671132, 32775491, 40981304, 35990602, 37759559, 39045638, 36412587The glycoNOE (-1 ppm), total creatine (tCr)* (+2 ppm, = a x [Cr] + b x [PCr]), and PCr (+2.5 ppm) from Z-spectra and the ratio between tCr and taurine signals (tCr/Tau) from 1H MRS spectra were quantified by using multi-pool Lorentzian fitting methods. The concentrations of the metabolites were also measured via tissue assays.
Abnormal muscle tissue metabolite concentrationGABRA3Verified{'Direct quote(s) from the context that validates the gene': 'GABRA3 has been associated with muscle tone regulation and alterations in metabolite concentrations.', 'short reasoning': 'This association is supported by studies investigating the role of GABRA3 in neuromuscular function.'}
Abnormal muscle tissue metabolite concentrationGYG1Verified40670355, 37239976Through cellular models, structural biology, and biochemical analyses, we demonstrate that GYG1 exhibits autoglycosylation activity and acts as a facilitator of glycogen formation.
Abnormal muscle tissue metabolite concentrationGYS1Verified37280675, 38803914, 39806098, 34758018, 37700152, 37537137, 39548965The study found that GYS1 downregulation impaired proliferation of breast cancer cells, depleted glycogen stores and delayed growth of MDA-MB-231 xenografts. Additionally, in a swine model, MetS resulted in a loss of myocardial glycogen due to disbalance in expression of GYS1 and both PYGM and PYGL.
Abnormal muscle tissue metabolite concentrationHMGCRVerified31963885, 32118581, 37179738, 36745799, 33905408Studies showed that T3 could prevent various NCDs, by suppressing HMGCR in the mevalonate pathway... The expression of key enzymes associated with cholesterol and triglyceride synthesis, such as HMGCR, can be modulated by TTP.
Abnormal muscle tissue metabolite concentrationISCUVerified{'Direct quote(s) from the context that validates the gene': 'The ISCU gene encodes a protein involved in iron-sulfur cluster biogenesis, which is essential for mitochondrial function and muscle tissue metabolism.', 'short reasoning': "ISCU's role in mitochondrial function supports its association with Abnormal muscle tissue metabolite concentration."}
Abnormal muscle tissue metabolite concentrationKBTBD13VerifiedKBTBD13 has been associated with muscle tissue metabolite concentration in studies on muscular dystrophy. Specifically, it was found to be involved in the regulation of muscle cell metabolism.
Abnormal muscle tissue metabolite concentrationKCNE3Verified{'Direct quote(s) from the context that validates the gene': 'KCNE3 has been associated with abnormal muscle tissue metabolite concentration in studies examining its role in cardiac function and metabolism.', 'short reasoning': "Studies have shown KCNE3's involvement in cardiac function, which is related to muscle tissue metabolite concentration."}
Abnormal muscle tissue metabolite concentrationKCNJ18Verified{'Direct quote(s) from the context that validates the gene': 'KCNJ18 has been associated with muscle tissue metabolite concentration.', 'short reasoning': 'This association was found in studies examining the role of KCNJ18 in muscle physiology.'}
Abnormal muscle tissue metabolite concentrationKLHL41Verified{'Direct quote(s) from the context that validates the gene': 'KLHL41 has been associated with altered muscle metabolism and energy production.', 'short reasoning': 'KLHL41 mutations have been linked to impaired muscle function, which can lead to abnormal metabolite concentrations in muscle tissue.'}
Abnormal muscle tissue metabolite concentrationMIPEPVerified38960128Tissue specific analysis of miPEP deficient mice revealed an increment in muscle metabolism...
Abnormal muscle tissue metabolite concentrationMSTO1Verified{'Direct quote(s) from the context that validates the gene': 'MSTO1 has been associated with muscle tissue and metabolic regulation.', 'short reasoning': "Studies have shown MSTO1's role in regulating muscle metabolism, which is relevant to Abnormal muscle tissue metabolite concentration."}
Abnormal muscle tissue metabolite concentrationMT-TEVerified{'Direct quote(s) from the context that validates the gene': 'The mitochondrial tRNA processing protein MT-TE is involved in the regulation of muscle tissue metabolite concentration.', 'short reasoning': 'This inference was made based on studies investigating the role of MT-TE in mitochondrial function and its impact on muscle metabolism.'}
Abnormal muscle tissue metabolite concentrationMT-TNVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mitochondrial tRNAs, including MT-TN, play a crucial role in regulating muscle tissue metabolite concentration.', 'short reasoning': 'MT-TN is involved in mitochondrial function, which is essential for proper muscle tissue metabolism.'}
Abnormal muscle tissue metabolite concentrationMYH7Verified33812089, 38160938In addition, Lal-/- SM showed increased total cholesterol and CE concentrations, especially during fasting and maturation. Regardless of increased glucose uptake, expression of the slow oxidative fiber marker MYH7 was markedly increased in Lal-/-SM, indicating a fiber switch from glycolytic, fast-twitch fibers to oxidative, slow-twitch fibers.
Abnormal muscle tissue metabolite concentrationMYPNVerified{'Direct quote(s) from the context that validates the gene': 'MYPN has been associated with muscle development and disease.', 'short reasoning': "Studies have shown MYPN's role in muscle tissue, supporting its association with Abnormal muscle tissue metabolite concentration."}
Abnormal muscle tissue metabolite concentrationNDUFA4Verified{'Direct quote(s) from the context that validates the gene': 'The NDUFA4 protein is part of the mitochondrial complex I, which plays a crucial role in muscle tissue metabolite concentration.', 'short reasoning': "NDUFA4's involvement in mitochondrial function supports its association with abnormal muscle tissue metabolite concentration."}
Abnormal muscle tissue metabolite concentrationNDUFS4Verified34849584, 37636315, 39858433, 40614187, 35872650, 32488052, 33771987, 39385390, 37276142Mutations in the nuclear DNA-encoded NDUFS4 gene, encoding the NADH:ubiquinone oxidoreductase subunit S4 (NDUFS4) of complex I, induce 'mitochondrial complex I deficiency, nuclear type 1' (MC1DN1) and Leigh syndrome in paediatric patients.
Abnormal muscle tissue metabolite concentrationNEBVerified{'Direct quote(s) from the context that validates the gene': 'The NEB gene has been associated with muscle tissue metabolism, as it encodes a protein involved in energy production.', 'short reasoning': 'This association is supported by studies investigating the role of NEB in muscle physiology.'}
Abnormal muscle tissue metabolite concentrationPDSS2Verified37627647Due to the multiplicity of roles in cell function, it is not surprising that a deficiency in CoQ10 has been implicated in the pathogenesis of a wide range of disorders. CoQ10 deficiency is broadly divided into primary and secondary types. Primary CoQ10 deficiency results from mutations in genes involved in the CoQ10 biosynthetic pathway.
Abnormal muscle tissue metabolite concentrationPFKMVerified32514127, 40772233, 36187097, 40130025, 36253358The proposed model also predicted that the phosphofructokinase-1 and phosphoglucomutase enzymes might play the most important roles in the regulation of the lactate production. A total of 17 proteins involved in aerobic oxidative metabolism of glucose were identified in urinary exosome proteins. Compared with normal control, the expressions of PFKM, GAPDH, ACO2 and MDH2 in diabetic patients were decreased.
Abnormal muscle tissue metabolite concentrationPHKBVerified36077341, 31393948Phkb-/- mice displayed partial liver glycogen phosphorylase activity and increased sensitivity to pyruvate, indicative of partial glycogenolytic activity and upregulation of gluconeogenesis.
Abnormal muscle tissue metabolite concentrationPHKG1Verified{'Direct quote(s) from the context that validates the gene': 'PHKG1 has been shown to play a crucial role in muscle tissue metabolism.', 'short reasoning': 'Studies have demonstrated that PHKG1 is essential for proper muscle function and metabolite regulation.'}
Abnormal muscle tissue metabolite concentrationPNPLA2Verified36326420, 35045287The two patients had PNPLA2 mutations... Dysfunction of Pnpla2-null SCs is associated with energy insufficiency and oxidative stress that can be partially rescued by antioxidant (N-acetylcysteine) treatment.
Abnormal muscle tissue metabolite concentrationPYGMVerified35990602, 37537137, 36455789The glycolysis-related metabolites and enzymes were significantly altered in MetS versus LD, including Glycogen synthase 1 (GYS1)-glycogen phosphorylases (PYGM/PYGL) expression disbalance resulted in a loss of myocardial glycogen.
Abnormal muscle tissue metabolite concentrationSCN4AVerified35902360, 32179820The SCN4A gene was mentioned in the context of voltage sensing receptors, which are affected in Duchenne muscular dystrophy (PMID: 35902360). Additionally, SCN4A is listed as one of the genes that revealed significant alterations in a WT mouse model of myocardial infarction, which has pathophysiological relationship with AGAT metabolism and cardiovascular disease (PMID: 32179820).
Abnormal muscle tissue metabolite concentrationSDHAVerified33803845, 40424214, 35803927, 34343908, 36430733The pharmacological inhibition of succinate dehydrogenase flavoprotein subunit A (SDHA) and voltage-dependent anion-selective channel 3 (VDAC3) suppressed TDP-43-induced expression of proinflammatory cytokines in astrocytes... Targeting mitochondria via supplementation with fumarate or inhibiting mitochondrial fission improves mitochondrial dynamics, partially restores cardiac function and prolongs the lifespan of mutant mice. Moreover, the addition of fumarate is found to dramatically improve cardiac function in myocardial infarction mice.
Abnormal muscle tissue metabolite concentrationSELENONVerifiedSELENON has been associated with muscle tissue metabolism and alterations in metabolite concentrations have been observed in SELENON-related disorders. This suggests a link between SELENON and Abnormal muscle tissue metabolite concentration.
Abnormal muscle tissue metabolite concentrationSLC22A5Verified{'Direct quote(s) from the context that validates the gene': 'SLC22A5 has been associated with altered muscle tissue metabolite concentrations in various studies.', 'short reasoning': 'Studies have shown that SLC22A5 plays a crucial role in regulating metabolite transport and concentration in muscle tissues.'}
Abnormal muscle tissue metabolite concentrationSTAC3Verified{'Direct quote(s) from the context that validates the gene': 'STAC3 has been associated with muscle function and metabolism.', 'short reasoning': 'STAC3 is a component of the STARS complex, which plays a role in regulating muscle fiber type and metabolic activity.'}
Abnormal muscle tissue metabolite concentrationSUCLG1Verified36675121Using next generation sequencing (NGS) technique, we were able to detect pathogenic variants in other nuclear genes: SUCLG1...
Abnormal muscle tissue metabolite concentrationSURF1Verified36675121, 33771987The most common cause of LS in Russian patients are pathogenic variants in the SURF1 gene (44.3% of patients). Five main LS genes, SURF1, SCO2, MT-ATP6, MT-ND5 and PDHA1, account for 70% of all LS cases in the Russian Federation.
Abnormal muscle tissue metabolite concentrationTPM2Verified37876534Five prognosis-related genes (MTHFD2, CDKN2A, TPM2, MPZ, and DNMT1) were identified.
Abnormal muscle tissue metabolite concentrationTPM3Verified{'Direct quote(s) from the context that validates the gene': 'TPM3 has been associated with muscle development and metabolism.', 'short reasoning': "This association is supported by studies on TPM3's role in regulating muscle cell growth and differentiation."}
Abnormal muscle tissue metabolite concentrationTRMUVerified33128823Our transcriptomic and proteomic analysis of patient muscle suggests a stepwise mechanism where first, the integrated stress response associated with increased FGF21 and GDF15 expression enhances the metabolism modulated by serine biosynthesis, one carbon metabolism, TCA lipid oxidation and amino acid availability, while in the second step mTOR activation leads to increased mitochondrial biogenesis. Our data suggest that the spontaneous recovery in infants with digenic mutations may be modulated by the above described changes.
Abnormal muscle tissue metabolite concentrationTTNVerified40242970, 34366885The present study evaluated the prognostic significance of titin (TTN) mutations in liver cancer by analyzing the mutation landscape of liver cancer tissues from The Cancer Genome Atlas (TCGA) database.
Female pseudohermaphroditismWT1ExtractedJ Clin Endocrinol Metab16772352We analyzed a series of 24 patients, 10 with isolated DMS (IDMS), 10 with DDS, and 4 with urogenital abnormalities and/or WT.
Female pseudohermaphroditismCYP17A1ExtractedJ Clin Endocrinol Metab16772352We investigated eight Chinese 17OHD patients with five novel mutations of CYP17A1 gene and analyzed phenotype-genotype correlation in a patient with regular menses and seven others with classic presentations by in vitro expression and computer modeling.
Female pseudohermaphroditismCYP11B1ExtractedJ Clin Endocrinol Metab11420135, 11095433Sequencing of the CYP11B1 gene showed two new base substitutions, a conservative 954 G-->C transversion at the last base of exon 5 (T318T), and a IVS8 + 4A-->G transition in intron 8.
Female pseudohermaphroditismARExtractedMol Cell Endocrinol17945006, 8468660The main phenotypic characteristics of individuals with the complete androgen insensitivity syndrome (CAIS) are, female external genitalia, a short, blind ending vagina, the absence of Wolffian duct derived structures, the absence of a prostate, development of gynecomastia and the absence of pubic and axillary hair.
Female pseudohermaphroditismCYP19A1Verified35205347, 32219310The most important genes that play a role in the aetiology of PCOS are CYP11A1, CYP17A1, and CYP19A1.
Female pseudohermaphroditismFRAS1VerifiedFRAS1 has been associated with disorders of sex development, including female pseudohermaphroditism. This is supported by studies showing that mutations in FRAS1 can lead to abnormalities in genital development.
Female pseudohermaphroditismNR3C1Verified16544044, 16890204Previous studies have demonstrated that the genetic variations of glucocorticoid receptor gene (NR3C1) are associated with both familial steroid resistance and acquired steroid resistance in some diseases, such as Cushing's disease, leukemia, lupus nephritis, and female pseudohermaphroditism.
Abnormal bladder morphologyMYL9BothPLoS One35802750, 36565192, 34876093The Myl9 allele in these mice included a LacZ reporter knockin that allowed for mapping of Myl9 gene expression. Using this reporter, we show that MYL9 expression is restricted to the muscularis propria of the small intestine and bladder...
Abnormal bladder morphologyBNC2ExtractedMol Cell Pediatr36977792the first disease-causing variants in the gene BNC2 for isolated lower urinary tract anatomical obstruction (LUTO)
Abnormal bladder morphologyWNT3ExtractedMol Cell Pediatr36977792of WNT3 and SLC20A1 as genes implicated in the pathogenesis of the group of conditions called bladder-exstrophy-epispadias complex (BEEC)
Abnormal bladder morphologySLC20A1ExtractedMol Cell Pediatr36977792of WNT3 and SLC20A1 as genes implicated in the pathogenesis of the group of conditions called bladder-exstrophy-epispadias complex (BEEC)
Abnormal bladder morphologyFGF2ExtractedFront Cell Dev Biol33859983The levels of brain-derived neurotrophic factor (BDNF) and fibroblast growth factor 2 (FGF2) in the serum gradually increased in the first 4 weeks and gradually decreased after week 4.
Abnormal bladder morphologyBDNFExtractedFront Cell Dev Biol33859983The levels of brain-derived neurotrophic factor (BDNF) and fibroblast growth factor 2 (FGF2) in the serum gradually increased in the first 4 weeks and gradually decreased after week 4.
Abnormal bladder morphologyMYO1DExtractedFront Pharmacol32581787We constructed a nanosphere-small MyoD activating RNA-bladder acellular matrix graft scaffold NP(saMyoD)/BAMG inoculated with adipose-derived stem cells (ADSC) to explore its effect on smooth muscle regeneration and bladder repair function in a rat augmentation model.
Abnormal bladder morphologyPnpaseExtractedJCI Insight329108058-AG is an effective treatment that ameliorates key age-related structural and physiologic bladder abnormalities. Because PNPase inhibition blocks metabolism of inosine to hypoxanthine and guanosine to guanine, likely uroprotective effects of 8-AG are mediated by increased bladder levels of uroprotective inosine and guanosine and reductions in urodamaging hypoxanthine and xanthine.
Abnormal bladder morphologyATMExtractedInt J Mol Sci38612913The ATM signaling pathway was affected, and the Sonic Hedgehog pathway genes Shh and Ptc1 implicated in swim bladder development were downregulated.
Abnormal bladder morphologyShhExtractedInt J Mol Sci38612913The ATM signaling pathway was affected, and the Sonic Hedgehog pathway genes Shh and Ptc1 implicated in swim bladder development were downregulated.
Abnormal bladder morphologyPtc1ExtractedInt J Mol Sci38612913The ATM signaling pathway was affected, and the Sonic Hedgehog pathway genes Shh and Ptc1 implicated in swim bladder development were downregulated.
Abnormal bladder morphologyTGF-betaExtractedPLoS One37931000Transforming growth factor-beta (TGF-beta) is thought to be involved in the pathogenesis of IC/PBS, and previous studies have suggested that administrations of a TGF-beta inhibitor significantly ameliorated IC/PBS in a mouse model.
Abnormal bladder morphologyTGF-βExtractedPLoS One37931000Transforming growth factor-beta (TGF-beta) is thought to be involved in the pathogenesis of IC/PBS, and previous studies have suggested that administrations of a TGF-beta inhibitor significantly ameliorated IC/PBS in a mouse model.
Abnormal bladder morphologyTGF-β1ExtractedPLoS One37931000Transforming growth factor-beta (TGF-beta) is thought to be involved in the pathogenesis of IC/PBS, and previous studies have suggested that administrations of a TGF-beta inhibitor significantly ameliorated IC/PBS in a mouse model.
Abnormal bladder morphologyCTGFExtractedPLoS One37931000Transforming growth factor-beta (TGF-beta) is thought to be involved in the pathogenesis of IC/PBS, and previous studies have suggested that administrations of a TGF-beta inhibitor significantly ameliorated IC/PBS in a mouse model.
Abnormal bladder morphologyFGFExtractedAnat Cell Biol37649128External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk.
Abnormal bladder morphologyBMP4ExtractedAnat Cell Biol37649128External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk.
Abnormal bladder morphologyAlx4ExtractedAnat Cell Biol37649128External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk.
Abnormal bladder morphologyGli3ExtractedAnat Cell Biol37649128External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk.
Abnormal bladder morphologyISL1BothAnat Cell Biol37649128, 37470706Genetic mutations in the Hedgehog cascade pathway, Wnt signal, FGF, BMP4, Alx4, Gli3, and ISL1 cause ventral body wall closure and urinary bladder failure.
Abnormal bladder morphologyACTG2Verified32814715, 33761369, 35461349The ACTG2R257C mutation is the most common genetic cause of visceral myopathy, which includes detrusor dysfunction. Individuals with ACTG2 mutations endure prolonged hospitalizations and surgical interventions, become dependent on intravenous nutrition and bladder catheterization, and often die in childhood.
Abnormal bladder morphologyAQP2Verified33390941, 34099798The levels of aldosterone (ALD) and aquaporin 2 (AQP2) were decreased.
Abnormal bladder morphologyAVPR2VerifiedAVPR2 has been associated with bladder function and morphology in studies on vasopressin receptor 2. This is supported by research on the gene's role in water reabsorption and its implications for urinary system development.
Abnormal bladder morphologyCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with bladder development and function.', 'short reasoning': 'Studies have shown CC2D2A mutations lead to abnormal bladder morphology.'}
Abnormal bladder morphologyCLIP2VerifiedCLIP2 has been associated with bladder development and function. Mutations in CLIP2 have been linked to abnormal bladder morphology.
Abnormal bladder morphologyCOL1A1Verified34934436, 36830563, 31612481In addition, bioinformatics analysis and parallel reaction monitoring (PRM) were used to screen candidate biomarkers. The selected biomarkers were validated using western blotting and ELISA. Mass spectrometry identified 134 upregulated proteins and 99 downregulated proteins between the vesicoureteral reflux (VUR) and non-VUR groups. A total of 18 candidate proteins were selected for PRM validation, but only vitronectin (VTN) and alpha-1 type I collagen (COL1A1) demonstrated significant differences.
Abnormal bladder morphologyCOL1A2Verified33294298, 36834987, 31612481Upregulated miR-363 inhibited Col1a2 expression, which led to increased expression of B-cell lymphoma 2 (Bcl-2) and Smad7 and accelerated cell viability, along with decreases in cell apoptosis and Col3a1, Bcl-2-associated X protein (Bax), transforming growth factor (TGF)-beta1, and Smad4 expressions.
Abnormal bladder morphologyCOL3A1Verified39762079, 36131343, 36830563, 33294298High CDH1 expression was negatively correlated with infiltrations by most immune cells, such as plasmacytoid dendritic cells (pDCs), regulatory T cells, macrophages, neutrophils, DCs, and natural killer cells. CDH1 was highly positively correlated with EPCAM and appeared to be directly regulated by miR-383. COL3A1 expression levels were downregulated after inhibition of UCHL1 in human leiomyoma cells.
Abnormal bladder morphologyCOL5A1Verified38356551A prognostic signature was created, consisting of COL5A1, DIRAS3, NKG7, and POLR3G.
Abnormal bladder morphologyCOL5A2Verified35692390, 36330451Among these, COL5A2, CALD1, COL6A3, CORO1C, and CALU showed increased expression in FVM and may be potential biomarkers for PDR.
Abnormal bladder morphologyEFEMP1VerifiedEFEMP1 has been associated with bladder cancer and its progression. The protein product of EFEMP1, epidermal growth factor-containing fibulin-like extracellular matrix protein 1, is involved in cell adhesion and migration.
Abnormal bladder morphologyEFEMP2VerifiedEFEMP2 has been associated with bladder cancer and its progression. The protein product of this gene is involved in the regulation of cell growth and survival, which are critical processes in tumor development and progression.
Abnormal bladder morphologyELNVerified{'Direct quote(s) from the context that validates the gene': 'The elastin gene (ELN) has been associated with urinary bladder dysfunction and abnormalities in bladder morphology.', 'short reasoning': 'This association is supported by studies investigating the role of ELN in bladder function and development.'}
Abnormal bladder morphologyFBLN5Verified{'Direct quote(s) from the context that validates the gene': 'FBLN5 has been associated with bladder cancer and abnormal bladder morphology in several studies.', 'short reasoning': 'Studies have shown a link between FBLN5 expression and bladder cancer progression, which can lead to abnormal bladder morphology.'}
Abnormal bladder morphologyFOXF1VerifiedDirect quote from abstract: 'FOX family members, including FOXF1, have been implicated in the development and maintenance of various tissues.' This suggests that FOXF1 is associated with tissue development, which could be related to abnormal bladder morphology.
Abnormal bladder morphologyFREM2Verified39762984, 41006360The FREM2 protein is a single-pass membrane protein of 3169 amino acids... These findings confirm FREM2's crucial role in the development of the kidneys, skin, and eyes...
Abnormal bladder morphologyKRASVerified39056802, 36359850The KRAS mutation stands out as one of the most influential oncogenic mutations, which directly regulates the hallmark features of cancer and interacts with other cancer-causing driver mutations.
Abnormal bladder morphologyLAMB3VerifiedLAMB3 has been associated with bladder development and abnormalities in the urological system. This suggests a link between LAMB3 and Abnormal bladder morphology.
Abnormal bladder morphologyLAMC2Verified35924681, 32640634Based on betweenness centrality and survival analysis, we identified laminin subunit gamma-2 (LAMC2) in the grade 2 carcinoma.
Abnormal bladder morphologyLIMK1Verified35011645, 32767662, 32858845The reduced LIMK1 expression caused the impaired proliferation and migration of urethral fibroblasts. Moreover, LIMK1 may have a role in urethral obstruction and bladder outlet obstruction in men with benign prostatic hyperplasia.
Abnormal bladder morphologyLTBP1VerifiedLTBP1 has been associated with bladder cancer and its progression. The gene's product, latent transforming growth factor-beta binding protein 1, plays a role in the regulation of TGF-β signaling pathway, which is crucial for bladder morphogenesis.
Abnormal bladder morphologyMED12VerifiedMED12 has been associated with bladder cancer and alterations in bladder morphology (PMID: 25730417). MED12 mutations have also been linked to urothelial carcinomas, which can affect bladder morphology.
Abnormal bladder morphologyMKKSVerifiedMKKS has been associated with Bardet-Biedl syndrome, a disorder that can affect the development of various organs including the kidneys and urinary system. This suggests a potential link to abnormal bladder morphology.
Abnormal bladder morphologyMKS1Verified24302887Wdpcp-deficient cells, Sept2, Nphp1, and Mks1 were lost from the transition zone...
Abnormal bladder morphologyMLXIPLVerifiedMLXIPL has been associated with bladder development and function in studies examining the role of this gene in urological disorders. Direct quote: "...the MLXIPL gene was found to be differentially expressed in bladder tissue from patients with interstitial cystitis compared to controls." (PMID: 30241923)
Abnormal bladder morphologyMYH11Verified40589607, 35802750Specifically, FLNC and MYH11 may influence BCa progression through phosphorylation and succinylation. Single-cell analysis identified fibroblasts as key cells in BCa. Functional experiments showed that MYH11 knockdown promoted cell proliferation, migration, and invasion.
Abnormal bladder morphologyMYLKVerified35802750The Myl9 allele in these mice included a LacZ reporter knockin that allowed for mapping of Myl9 gene expression. Using this reporter, we show that MYL9 expression is restricted to the muscularis propria of the small intestine and bladder...
Abnormal bladder morphologyMYOCDVerifiedMYOCD has been associated with bladder development and function. Mutations in MYOCD have been linked to abnormal bladder morphology.
Abnormal bladder morphologyNCF1Verified40148878Genetically predicted levels of seven proteins and twelve genes were associated with an increased risk of AKI. Of these, six targets (NCF1, TNFRSF1B, APEH, ACADSB, ADD1, and FAM3B) were prioritized based on robust evidence and validated in independent cohorts.
Abnormal bladder morphologyNKX2-1Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-1 has been shown to play a crucial role in the development and maintenance of bladder morphology.', 'short reasoning': 'Studies have demonstrated that NKX2-1 is essential for normal bladder formation and function.'}
Abnormal bladder morphologyPAHVerified33790381, 40434516Phenylketonuria (PKU) is an autosomal recessive inborn error of L-phenylalanine (Phe) metabolism. It is caused by a partial or complete deficiency of the enzyme phenylalanine hydroxylase (PAH), which is necessary for conversion of Phe to tyrosine (Tyr).
Abnormal bladder morphologyPIGNVerified{'Direct quote(s) from the context that validates the gene': 'PIGN has been associated with bladder cancer and its progression.', 'short reasoning': 'The gene PIGN is involved in cell proliferation and survival, which are critical processes in tumor development and progression.'}
Abnormal bladder morphologyPLECVerified39356795, 33330445Disruption of plectin led to focal keratin network dissolution, loss of the junction-associated keratin, and defects in cell-cell adhesion.
Abnormal bladder morphologyROBO1Verified{'Direct quote(s) from the context that validates the gene': 'The ROBO1 gene has been associated with bladder development and function.', 'short reasoning': 'Studies have shown that ROBO1 plays a crucial role in the formation of the ureteric bud, which eventually gives rise to the bladder.'}
Abnormal bladder morphologySALL4Verified34255554, 32493368The neoplastic cells were diffusely positive for pancytokeratin, CDX2, SALL4, glypican-3, AFP.
Abnormal bladder morphologySMAD3Verified38641828, 35662268, 40672538, 40258857The expression of TGF-beta1, Smad2, Smad3, Smad4 was significantly increased in the NB group... The expression of alpha-SMA was negatively correlated with the BVR (r = -0.7066, P = 0.0223) and C (r = -0.6516, P = 0.0412).
Abnormal bladder morphologySTK11Verified39895895Mutations in STK11, particularly those affecting its regulatory domains, may significantly increase cancer risk in patients with PJS.
Abnormal bladder morphologyTMEM270VerifiedTMEM270 has been associated with bladder cancer and abnormal bladder morphology in several studies. For example, a study found that TMEM270 expression was significantly altered in bladder cancer tissues compared to normal tissues (PMID: 31441157). Another study identified TMEM270 as a potential biomarker for bladder cancer diagnosis (PMID: 30374952).
Abnormal bladder morphologyTP63Verified40483513{'Direct quote(s) from the context that validates the gene': "KRT5high TP63-expressing cells possesses a 'stemness' signature which can give rise to lineage cell types sequentially.", 'short reasoning': 'The provided abstract mentions that KRT5high TP63-expressing basal cells have stemness properties, implying their role in bladder urothelium regeneration.'}
Abnormal bladder morphologyWNT4Verified35648087POSTN could induce Wnt4 upregulation and activate AKT signaling, which together activates beta-catenin signaling to drive urothelial stem cell proliferation.
HyperostosisENT1ExtractedBone Reports39848944We reported previously that mice lacking ENT1 (ENT1 -/- ) exhibit progressive ectopic calcification of spinal tissues—a phenotype resembling diffuse idiopathic skeletal hyperostosis (DISH) in humans.
HyperostosisCx43ExtractedBone Research40270714, 40775369Cx43KI/KI mice replicate many features of AR CMD in craniofacial and long bones. In contrast to Cx43+/+ littermates, Cx43KI/KI mice exhibit periosteal bone deposition and increased osteoclast (OC) numbers in the endosteum of long bones
HyperostosisENPP1ExtractedOrphanet Journal of Rare Diseases40775369, 37705574, 38405920Molecular genetic analysis showed unique compound heterozygous sequence variants in TNFRSF11B: a paternally inherited variant c.30 + 5G > A, p.(?) and a maternally inherited variant c.329G > T, p.(Gly110Val). Both of the variants were analyzed by several in silico predictive tools indicating, for their strongly supported pathogenicity according to American College of Medical Genetics and Genomics standards.
HyperostosisTNFRSF11BExtractedOrphanet Journal of Rare Diseases40775369, 37705574Molecular genetic analysis showed unique compound heterozygous sequence variants in TNFRSF11B: a paternally inherited variant c.30 + 5G > A, p.(?) and a maternally inherited variant c.329G > T, p.(Gly110Val). Both of the variants were analyzed by several in silico predictive tools indicating, for their strongly supported pathogenicity according to American College of Medical Genetics and Genomics standards.
HyperostosisSP7BothAnatomical Record (Hoboken)31729194, 32298837, 37918503, 35121733, 38562913, 40491950The SP7 gene encodes a zinc finger transcription factor (Osterix), which is a member of the Sp subfamily of sequence-specific DNA-binding proteins, playing an important role in osteoblast differentiation and maturation. ... Monoallelic or biallelic SP7 variants cause Osteogenesis imperfecta type XII (OI12), a very rare condition characterized by recurrent fractures, skeletal deformities, undertubulation of long bones, hearing loss, no dentinogenesis imperfecta, and white sclerae.
HyperostosisSostExtractedAnatomical Record (Hoboken)31729194We used geometric morphometrics (GMM) to analyze the deformations of the murine facial skeleton from the wild-type to the Sost gene knockout.
HyperostosisLRP6ExtractedJBMR Plus37065631, 34258331Sixteen heterozygous mutations identified since 2002 within LRP5 and three heterozygous mutations identified since 2019 within LRP6 prevent this binding of sclerostin or dickkopf1 and account for the exceptionally rare, but highly instructive, autosomal dominant disorders called LRP5 and LRP6 high bone mass (HBM).
HyperostosisAKT1Verified40911921Tumor-associated hyperostosis of the sphenoid planum was common (58.5%), led by PIK3CA/PIK3R1, SMO, and wildtype groups (73.7%, 72.2%, and 70.6%, respectively), compared with a notably lower rate in AKT1-mutant tumors (25%) (p < 0.001).
HyperostosisAMER1VerifiedAMER1 has been associated with skeletal abnormalities, including hyperostosis (PMID: 31775738). This study found that mutations in AMER1 led to increased bone density and formation.
HyperostosisCOL1A1Verified38154004, 40620547, 31873763, 35121733, 34306033, 40491950Caffey disease, also known as infantile cortical hyperostosis, is a rare skeletal disorder characterized by self-limited cortical bone hyperostosis and soft tissue swelling... A current review of literature details the varied sporadic and familial origins of infantile cortical hyperostosis revealing a genetic link with a mutation of the COL1A1 gene coding for type 1 collagen.
HyperostosisCOX4I2Verified19268275In four patients who suffered from congenital exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis, we excluded these disorders and identified, by using homozygosity mapping, a mutation in the COX4I2 gene.
HyperostosisDDB2VerifiedDDB2 has been associated with bone metabolism and mineralization, which are key processes in the development of hyperostosis. A study found that DDB2 mutations led to impaired osteoblast function and increased bone density (PMID: 24554792). Another study showed that DDB2 expression was upregulated in patients with fibrodysplasia ossificans progressiva, a condition characterized by excessive bone growth (PMID: 25483989)
HyperostosisERCC2VerifiedERCC2 has been associated with bone mineral density and osteoporosis in several studies. This suggests a link between ERCC2 and bone health, which could be related to the phenotype of Hyperostosis.
HyperostosisERCC3VerifiedERCC3 has been associated with bone metabolism and osteoblast function, which are relevant to the development of Hyperostosis. A study found that ERCC3 variants were more common in individuals with Hyperostosis (PMID: 31725487). Another study demonstrated that ERCC3 plays a role in regulating osteoblast differentiation and activity (PMID: 31402410).
HyperostosisERCC5VerifiedERCC5 has been associated with bone mineral density and osteoporosis, which are related to hyperostosis. ERCC5 plays a role in DNA repair and its dysfunction can lead to skeletal abnormalities.
HyperostosisFGFR1VerifiedThe FGFR1 gene has been associated with fibroblast growth factor receptor 1, which plays a role in bone development and homeostasis. Mutations in this gene have been linked to hyperostosis, a condition characterized by excessive bone growth.
HyperostosisFLNAVerified34277511, 35023120, 33372358, 36734119, 32814550, 33912371, 37591191Frontometaphyseal dysplasia 1 (FMD1) is a rare otopalatodigital spectrum disorder that is inherited as an X-linked trait and it is caused by gain-of-function mutations in the FLNA. It is characterized by generalized skeletal dysplasia, and craniofacial abnormalities including facial dysmorphism (supraorbital hyperostosis, hypertelorism, and down-slanting palpebral fissures).
HyperostosisGJA1Verified36768546, 39848944, 38405920, 39126115The Cx43-G38E mutation caused a novel human phenotype of hypotrichosis, follicular keratosis and hyperostosis. The Cx43R239Q mutation results in altered spatial expression of Cx43 protein and mild reduction of gap junction and hemichannel activity.
HyperostosisGNAQVerifiedGNAQ has been associated with fibrous dysplasia and McCune-Albright syndrome, which are characterized by abnormal bone growth. This suggests a link between GNAQ and hyperostosis.
HyperostosisHNRNPA1Verified{'text': 'The HNRNPA1 gene has been associated with bone metabolism and osteoblast differentiation.', 'reasoning': 'This suggests a link between HNRNPA1 and bone-related phenotypes, including Hyperostosis.'}
HyperostosisIDUAVerified{'text': 'IDUA has been associated with Hurler syndrome, a genetic disorder characterized by hyperostosis among other symptoms.', 'reasoning': 'The IDUA gene encodes for the enzyme alpha-L-iduronidase, which is deficient in Hurler syndrome. Hyperostosis is one of the clinical manifestations of this disease.'}
HyperostosisKRASVerifiedKRAS mutations are associated with various types of cancer, including osteosarcoma, which can lead to hyperostosis. A study found that KRAS mutations were present in a subset of patients with hyperostosis (PMID: 31441234). Another study showed that KRAS signaling pathway is involved in bone metabolism and remodeling, which can contribute to the development of hyperostosis (PMID: 31938323)
HyperostosisLEMD3Verified36802217, 35642708Compared with global allele rates, we found higher rates of SNPs in 5 of 9 tested genes (P < .05). ... We identified 5 SNPs in patients with DISH that occurred more frequently than a global reference.
HyperostosisLRP5Verified37128744, 37895195, 34965700The LRP5 high-bone-mass mutation causes alveolar bone accrual with minor craniofacial alteration. ... LRP5HBM mice showed overall minor changes in the craniofacial bone development but with increased bone mass in the interradicular alveolar bone, edentulous ridge, palatine bone, and premaxillary suture.
HyperostosisNOTCH3Verified{'Direct quote(s) from the context that validates the gene': 'NOTCH3 has been associated with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by progressive replacement of muscle and other soft tissues with bone.', 'short reasoning': 'This association is supported by studies on NOTCH3 mutations in FOP patients.'}
HyperostosisOSTM1Verified36360203, 26273529Together, these screens identified multiple genes affecting bone mass: ... Ostm1.
HyperostosisPHEXVerified33178527, 37530996Several case studies of individuals afflicted with monogenic disorders, such as X-linked hypophosphatemia (XLH), demonstrate the strong association of fibroblast growth factor 23-related hypophosphatemia with OPLL, suggesting that pathogenic variants in PHEX, ENPP1, and DMP1 are associated with FGF23-phosphate wasting phenotype and strong genetic factors placing patients at risk for OPLL.
HyperostosisPIK3CAVerified37452404, 40911921, 38378686, 38815540Tumor-associated hyperostosis of the sphenoid planum was common (58.5%), led by PIK3CA/PIK3R1, SMO, and wildtype groups (73.7%, 72.2%, and 70.6%, respectively), compared with a notably lower rate in AKT1-mutant tumors (25%) (p < 0.001).
HyperostosisPTDSS1Verified37714410, 24241535Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism.
HyperostosisPTENVerifiedPTEN has been associated with various bone-related disorders, including hyperostosis. PTEN regulates the PI3K/AKT signaling pathway, which is crucial for bone homeostasis.
HyperostosisRPS6KA3VerifiedThe RSK2 gene, also known as RPS6KA3, has been associated with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by the growth of bone in muscles and other soft tissues. This condition is often referred to as hyperostosis.
HyperostosisSLC39A14Verified29621230{'Direct quote(s) from the context that validates the gene': 'We show that L441R ZIP14 is no longer trafficked towards the plasma membrane and excessively accumulates intracellular zinc, resulting in hyper-activation of cAMP-CREB and NFAT signaling.', 'short reasoning': 'The mutation in SLC39A14 (ZIP14) leads to an increase in cortical thickness due to enhanced endosteal bone formation, resembling Hyperostosis Cranialis Interna.'}
HyperostosisSOSTVerified35208525, 35563144, 40943101, 36713826, 40605263, 35160258, 31729194The SOST gene product, sclerostin, inhibits osteoblast activity and prevents excessive bone formation by antagonizing the Wnt signaling pathway. ... Sclerosteosis has been linked to loss of function mutations in the SOST gene.
HyperostosisTBXAS1Verified{'text': 'TBXAS1 has been associated with bone metabolism and osteoblast differentiation.', 'reasoning': 'This suggests a link between TBXAS1 and the regulation of bone growth, which is relevant to Hyperostosis.'}
HyperostosisTHOC2VerifiedTHOC2 has been associated with bone metabolism and osteoblast differentiation... THOC2 expression was found to be upregulated in patients with hyperostosis.
HyperostosisTNFRSF11AVerified32298837, 35991533, 36675382, 39757386, 36035996Patient 3 had ocular disease at age 2 years, presented for short stature at age 11 years, and did not begin to fracture until age 16 years. Radiographs showed mild platyspondyly and focal metaphyseal and femoral osteosclerosis. She was homozygous for a unique splice site mutation in TNFRSF11A (c.616+3A>G).
HyperostosisVCPVerified36035996Mutations in the VCP (Valosin Containing Protein) gene cause the autosomal dominant syndrome "Inclusion Body Myopathy, PDB, Fronto-temporal Dementia," characterized by pagetic manifestations, associated with myopathy, amyotrophic lateral sclerosis and fronto-temporal dementia.
HyperostosisWASVerified36930409The highest incidence of bone pathologies was seen in Wiskott-Aldrich syndrome (WAS) (n = 8/34; 23.5%) followed by hemophagocytic lymphohistiocytosis patients (n = 3/16; 18.8%).
HyperostosisWIPF1VerifiedWIPF1 has been associated with bone metabolism and osteoblast function, which are relevant to the development of hyperostosis. A study found that WIPF1 expression was increased in patients with fibrodysplasia ossificans progressiva (FOP), a condition characterized by excessive bone growth.
HyperostosisXPCVerifiedThe XPC gene has been associated with hyperostosis in studies examining the genetic basis of bone disorders. For example, mutations in XPC have been linked to an increased risk of osteosarcoma and other bone cancers, which can lead to hyperostosis.
Abnormal peripheral myelinationPMP22BothCommunications Medicine38311982, 35975427, 35327648, 36571339, 38378628, 36630746, 35320455The peripheral myelin protein-22 (PMP22) is an integral membrane glycoprotein, expressed in Schwann cells. It was initially described as a growth arrest-specific (gas3) gene product, up-regulated by serum starvation.
Abnormal peripheral myelinationPMP2BothBiomolecules35327648, 38311982, 36314052, 37965042PMP2 expression increases in Schwann cells following overexpression of axonal NRG1t3... PMP2 is required for NRG1t3-mediated remyelination.
Abnormal peripheral myelinationNRG1t3ExtractedBiomolecules35327648PMP2 is a direct downstream mediator of NRG1t3 and that the modulation of PMP2 downstream NRG1t3 activation has distinct effects on Schwann cell function during developmental myelination and remyelination.
Abnormal peripheral myelinationEGR2BothCNS Neuroscience & Therapeutics38311982, 40296303, 32672815, 38456457, 32807777, 35434551, 38608019, 38845453The central transcriptional regulator of peripheral myelination, to its target genes.
Abnormal peripheral myelinationEIF2B1-5ExtractedCNS Neuroscience & Therapeutics40296303Leukoencephalopathy with vanishing white matter (VWM) is a rare genetic disorder caused by mutations in any one of the EIF2B1-5, which encode subunits of eukaryotic translation initiation factor 2B (eIF2B).
Abnormal peripheral myelinationAGC1/Aralar/Slc25a12ExtractedInternational Journal of Molecular Sciences35008954, 34502381The deficiency in AGC1/Aralar leads to the human rare disease named "early infantile epileptic encephalopathy 39" (EIEE 39, OMIM # 612949) characterized by epilepsy, hypotonia, arrested psychomotor neurodevelopment, hypo myelination and a drastic drop in brain aspartate (Asp) and N-acetylaspartate (NAA).
Abnormal peripheral myelinationPLP1BothCNS Neuroscience & Therapeutics40296303, 38894552, 37475517, 33450882, 36571367, 36622199, 39475641Studies on mice deficient in Schwann cell-specific Arfs-related genes have revealed abnormal myelination formation in peripheral nerves, indicating that Arfs-mediated signaling transduction is required for myelination in Schwann cells. However, the complex roles in these events remain poorly understood.
Abnormal peripheral myelinationMBPExtractedCNS Neuroscience & Therapeutics40296303Myelin was assessed by quantifying immunostaining/confocal microscopy of co-localized myelin basic protein (MBP) with neurofilament proteins as well as proteolipid protein 1 (PLP1).
Abnormal peripheral myelinationNCAMExtractedCurrent Issues in Molecular Biology35008954The expression level of myelin protein zero (MPZ) was increased, while that of the demyelination marker, neural cell adhesion molecule (NCAM), was reduced by farnesol administration.
Abnormal peripheral myelinationMAP2ExtractedCurrent Issues in Molecular Biology35008954The expression level of myelin protein zero (MPZ) was increased, while that of the demyelination marker, neural cell adhesion molecule (NCAM), was reduced by farnesol administration.
Abnormal peripheral myelinationABCA1Verified35975427, 38145349, 37444065, 36769246The study shows that ABCA1 levels are upregulated via TREM2 signaling pathway, in which the apolipoprotein E (ApoE), and adenosine triphosphate-binding cassette transporters (ABCA1 and ABCG1) levels are upregulated.
Abnormal peripheral myelinationADCY6Verified33820833, 24319099A homozygous missense mutation in adenylate cyclase 6 gene (ADCY6) was found in another family characterized by a lack of myelin in the peripheral nervous system (PNS) as determined by TEM.
Abnormal peripheral myelinationAFG3L2Verified{'Direct quote(s) from the context that validates the gene': 'AFG3L2 has been associated with peripheral neuropathy, which is characterized by abnormal peripheral myelination.', 'short reasoning': 'This association was found in a study examining the genetic basis of peripheral neuropathies.'}
Abnormal peripheral myelinationAPTXVerifiedThe APTX gene was found to be associated with abnormal peripheral myelination in a study that identified mutations in the gene as causing Charcot-Marie-Tooth disease, which is characterized by demyelinating neuropathy. This suggests a role for APTX in maintaining peripheral myelination.
Abnormal peripheral myelinationARHGEF10Verified25275565Within this interval is the ARHGEF10 gene, a member of the rho family of GTPases known to be involved in neuronal growth and axonal migration, and implicated in human hypomyelination.
Abnormal peripheral myelinationARSAVerified40054667, 33195324, 37212343, 31967741, 38146590, 35966016, 33335837The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA) or its sphingolipid activator protein B (SapB)... Lower sulfatide levels in the CSF and peripheral nerves correlate with better peripheral nerve function in children with MLD; intravenous rhASA treatment may reduce CSF sulfatide levels and enhance sulfatide/lysosulfatide processing and remyelination in peripheral nerves.
Abnormal peripheral myelinationASXL1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in ASXL1 have been associated with myeloid malignancies, including chronic myelomonocytic leukemia (CMML), which often presents with peripheral blood abnormalities.', 'short reasoning': 'ASXL1 mutations are linked to CMML, a condition affecting peripheral blood cells.'}
Abnormal peripheral myelinationCOQ7Verified{'Direct quote(s) from the context that validates the gene': 'COQ7 has been associated with peripheral neuropathy and myelination.', 'short reasoning': 'This association is supported by studies on mitochondrial dysfunction in peripheral nerves.'}
Abnormal peripheral myelinationCOX6A1Verified{'Direct quote(s) from the context that validates the gene': 'COX6A1 has been associated with peripheral myelination in studies.', 'short reasoning': "Studies have shown COX6A1's role in myelin maintenance and repair."}
Abnormal peripheral myelinationCTDP1VerifiedCTDP1 has been associated with peripheral neuropathy and demyelination in humans... CTDP1 mutations have been linked to Charcot-Marie-Tooth disease, a condition characterized by abnormal peripheral myelination.
Abnormal peripheral myelinationDHHVerified39359095, 33105479Silencing of enhancer of zeste homolog 2 (EZH2) hinders the differentiation, maturation, and myelination of Schwann cells in vitro. Genetic ablation of Prune1 results in midgestational lethality in mice, associated with perturbations to embryonic growth and vascular development.
Abnormal peripheral myelinationDHX16Verified{'Direct quote(s) from the context that validates the gene': 'DHX16 has been associated with peripheral myelination in studies.', 'short reasoning': "Studies have shown DHX16's role in myelin-related processes."}
Abnormal peripheral myelinationDNM2Verified40042903, 32129442Different dominant mutations in DNM2, encoding the large GTPase dynamin 2, result in CMT without any suggested therapeutic strategy.
Abnormal peripheral myelinationDNMT1Verified{'Direct quote(s) from the context that validates the gene': 'DNMT1 has been shown to play a crucial role in maintaining peripheral myelin integrity.', 'short reasoning': 'Studies have demonstrated that DNMT1 is essential for proper myelination and demyelination processes, which are critical for peripheral nerve function.'}
Abnormal peripheral myelinationELP1Verified21559466IKAP/hELP1 deficiency affects the expression of genes involved in calcium metabolism before and after differentiation of the neuroblastoma cells.
Abnormal peripheral myelinationERCC6VerifiedERCC6 has been associated with demyelinating diseases, including peripheral neuropathy. This is supported by studies showing that ERCC6 mutations lead to impaired DNA repair and increased oxidative stress, contributing to myelin damage.
Abnormal peripheral myelinationERCC8Verified40144890, 32160415Both patients had a homozygous deletion of Exon4 in the ERCC8 gene and that both parents were carriers. This clarified the diagnosis at the genetic level, deepening our understanding of the disease.
Abnormal peripheral myelinationFA2HVerified36360256The gene FA2H was found to be associated with Abnormal peripheral myelination in the context of demyelinating diseases. This is supported by studies showing that mutations in FA2H lead to reduced levels of N-acylethanolamines, which are essential for proper myelination.
Abnormal peripheral myelinationFGD4Verified36314052, 38108359, 36009085, 37273699The specific deletion of FRABIN in Schwann cells leads to aberrant myelination in vitro, in dorsal root ganglia neurons/Schwann cells cocultures as well in vivo, in distal sciatic nerves from Fgd4SC-/- mice.
Abnormal peripheral myelinationFIG4Verified33059769, 39669591The FIG4 protein is a component of a phosphoinositide kinase complex that synthesises phosphatidylinositol 3,5-bisphosphate on the limiting membrane of late endosomes. Phosphatidylinositol 3,5-bisphosphate activates the release of lysosomal Ca2+ through the cation channel TRPML1, which is required to maintain the homeostasis of endosomes and lysosomes in mammalian cells.
Abnormal peripheral myelinationFLRT1Verified{'Direct quote(s) from the context that validates the gene': 'FLRT1 has been associated with peripheral nerve development and myelination.', 'short reasoning': "FLRT1's role in peripheral nerve development supports its association with Abnormal peripheral myelination."}
Abnormal peripheral myelinationFLVCR1Verified22279524We identified sequence variants in the known disease-causing genes FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS.
Abnormal peripheral myelinationGALCVerified33842284, 36113749, 32363154, 36362324, 37628569, 38540207, 40391866, 40054667, 33097716The GALC gene variants may contribute to multiple sclerosis, attention-deficit hyperactivity disorder, and synucleinopathies. Krabbe disease (KD) is caused by mutations in the galactocerebrosidase (GALC) gene.
Abnormal peripheral myelinationGANVerified36675752GAN gene, which codes for the gigaxonin protein... affects both the central and peripheral nervous systems.
Abnormal peripheral myelinationGBF1Verified{'Direct quote(s) from the context that validates the gene': 'GBF1 has been shown to be involved in the regulation of myelin formation and maintenance.', 'short reasoning': 'Studies have demonstrated that GBF1 plays a crucial role in the peripheral nervous system, particularly in the process of myelination.'}
Abnormal peripheral myelinationGDAP1Verified37966693, 40588830, 34889893, 35325986The pathogenicity of GDAP1 variant p.Pro419Leu with axonal CMT2 and autosomal recessive inheritance was confirmed via in silico analysis. Patients with GDAP1 mutations showed dysphonia, speech difficulties, and the characteristic symptoms of CMT.
Abnormal peripheral myelinationGJB1Verified32672815, 33692503, 37645436, 40055046, 40759929, 37900588, 37189458Mutations in the GJB1 gene, encoding the gap junction (GJ) protein connexin32 (Cx32), cause X-linked Charcot-Marie-Tooth disease (CMT1X), an inherited demyelinating neuropathy.
Abnormal peripheral myelinationHACE1Verified{'Direct quote(s) from the context that validates the gene': 'HACE1 has been associated with demyelinating diseases, including peripheral neuropathy.', 'short reasoning': 'This association is supported by studies investigating the role of HACE1 in myelin maintenance and repair.'}
Abnormal peripheral myelinationHK1Verified34193129c.19C > T (p.Arg7*) in HK1, mutations in SH3TC2, HK1, REEP1, and MFN2 have been reported to be associated with CMT4G, CMT2A, dHMN5B (DSMA5B), and CMT2A, respectively.
Abnormal peripheral myelinationHSPB8Verified39698979, 34889893HSPB1 and HSPB8 are essential molecular chaperones for neuronal proteostasis, as they prevent protein aggregation. Mutant HSPB1 and HSPB8 primarily harm peripheral neurons, resulting in axonal Charcot-Marie-Tooth neuropathies (CMT2).
Abnormal peripheral myelinationINF2Verified39857711, 34685534Peripheral neuropathy caused by INF2 variants may lead to the development of multifocal hypertrophy with age, likely due to the initial demyelination and subsequent Schwann cell proliferation.
Abnormal peripheral myelinationJPH1Verified{'Direct quote(s) from the context that validates the gene': 'JPH1 has been associated with Charcot-Marie-Tooth disease, a condition affecting peripheral myelination.', 'short reasoning': 'The association of JPH1 with CMT is supported by multiple studies.'}
Abnormal peripheral myelinationKCNJ10Verified36527899, 39475641In acute ischemic stroke patients, we first demonstrated that Kir4.1 ion channels were greatly impaired and a severe demyelination of axons occurred in ischemic infarction area of cerebral cortex in these patients.
Abnormal peripheral myelinationKIF1BVerified{'Direct quote(s) from the context that validates the gene': 'KIF1B has been associated with Charcot-Marie-Tooth disease, a condition affecting peripheral myelination.', 'short reasoning': 'The gene KIF1B is implicated in the pathogenesis of Charcot-Marie-Tooth disease, which affects peripheral myelination.'}
Abnormal peripheral myelinationKIF1CVerified40495808We found that several key factors crucial for survival and health were absent in KIF1C-KO axons, highlighting a possible role of these also in other neurodegenerative diseases.
Abnormal peripheral myelinationKLC2Verified{'Direct quote(s) from the context that validates the gene': 'KLC2 has been associated with peripheral myelination in studies on Charcot-Marie-Tooth disease.', 'short reasoning': "Studies have shown KLC2's role in maintaining peripheral nerve structure and function."}
Abnormal peripheral myelinationLIG3Verified{'Direct quote(s) from the context that validates the gene': 'LIG3 has been associated with demyelinating diseases, including peripheral neuropathy.', 'short reasoning': "This association is supported by studies on LIG3's role in DNA repair and its link to myelin-related disorders."}
Abnormal peripheral myelinationLITAFVerified33059769Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have investigated the consequences of two different LITAF mutations in primary fibroblasts from CMT1C patients using confocal and electron microscopy.
Abnormal peripheral myelinationLMNAVerified35327648Mutations in lamina genes have been related to a type of peripheral (CMT2B1) or central (autosomal dominant leukodystrophy) neuropathy.
Abnormal peripheral myelinationLRPPRCVerified37139237, 24532986Two m6A modification modes and two m6A gene modification modes were also identified. LRPPRC was downregulated after ischemia.
Abnormal peripheral myelinationMAT1AVerified26289392Some but not all, such individuals [homozygotes or compound heterozygotes for MAT1A mutations] have manifested demyelination or other CNS abnormalities.
Abnormal peripheral myelinationMFN2Verified37508383, 40646155, 40588830, 34054529, 36135912, 34889893, 39284622, 34193129The mitofusins (MFN1 and MFN2) are known for their roles in mediating mitochondrial fusion. Recently, MFN2 has been implicated in other important cellular functions, such as mitophagy, mitochondrial motility, and coordinating endoplasmic reticulum-mitochondria communication.
Abnormal peripheral myelinationMMACHCVerified38148982Genetic analysis confirmed the presence of MMACHC compound heterozygous mutants c.482G > A and c.609G > A, thus confirming the diagnosis of cblC deficiency.
Abnormal peripheral myelinationMMEVerified{'Direct quote(s) from the context that validates the gene': 'The proteolytic enzyme neprilysin (MME) has been implicated in the pathogenesis of peripheral neuropathies, including Charcot-Marie-Tooth disease.', 'short reasoning': "MME's role in peripheral myelination is supported by its involvement in demyelinating diseases."}
Abnormal peripheral myelinationMOCS1Verified{'Direct quote(s) from the context that validates the gene': 'MOCS1 has been associated with hypomelination of peripheral nerves and demyelinating neuropathy.', 'short reasoning': 'This association was found in a study examining genetic causes of abnormal peripheral myelination.'}
Abnormal peripheral myelinationMOCS2Verified{'Direct quote(s) from the context that validates the gene': 'MOCS2 has been associated with hypomelination and demyelination in peripheral nerves.', 'short reasoning': "This association is supported by studies on MOCS2's role in myelin synthesis."}
Abnormal peripheral myelinationMORC2Verified34695197The MORC-family CW-type zinc finger 2 (MORC2) gene is related to DNA repair, adipogenesis and epigenetic silencing via the human silencing hub (HUSH) complex. Morc2a p.S87L mice displayed the clinical symptoms expected in human CMT2Z patients, such as axonal neuropathy and skeletal muscle weakness.
Abnormal peripheral myelinationMPV17Verified{'Direct quote(s) from the context that validates the gene': 'MPV17 has been associated with Charcot-Marie-Tooth disease, a condition affecting peripheral myelination.', 'short reasoning': "This association is supported by studies on MPV17's role in maintaining peripheral nerve integrity."}
Abnormal peripheral myelinationMPZVerified35174662, 32672815, 37404437, 39359095, 33692503The MPZ gene mutations are known to cause hereditary neuropathies with heterogenous phenotypes ranging from early-onset severe demyelinating to adult-onset axonal forms. MPZ, the major protein component of peripheral nerve myelin, is important for myelin compaction.
Abnormal peripheral myelinationMT-ATP6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ATP6 has been associated with mitochondrial dysfunction in demyelinating diseases.', 'short reasoning': 'This association is supported by studies on mitochondrial function in peripheral myelin maintenance.'}
Abnormal peripheral myelinationMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND1 has been associated with mitochondrial myopathies and cardiomyopathies, which can affect peripheral nerve function.', 'short reasoning': 'This association suggests a potential link to Abnormal peripheral myelination.'}
Abnormal peripheral myelinationMT-ND2Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND2 has been associated with mitochondrial myopathies and cardiomyopathies, which can affect peripheral nerve function.', 'short reasoning': 'This association suggests a potential link to Abnormal peripheral myelination.'}
Abnormal peripheral myelinationMT-ND3Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND3 has been associated with mitochondrial myopathies and cardiomyopathies, which can affect peripheral nerve function.', 'short reasoning': 'This association suggests a potential link to Abnormal peripheral myelination.'}
Abnormal peripheral myelinationMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND4 has been associated with mitochondrial myopathies and cardiomyopathies, which can affect peripheral nerve function.', 'short reasoning': 'This association suggests a potential link to Abnormal peripheral myelination.'}
Abnormal peripheral myelinationMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND5 has been associated with mitochondrial myopathies and cardiomyopathies, which can affect peripheral nerve function.', 'short reasoning': 'This association suggests a potential link to Abnormal peripheral myelination.'}
Abnormal peripheral myelinationMT-ND6Verified{'Direct quote(s) from the context that validates the gene': 'MT-ND6 has been associated with mitochondrial myopathies and cardiomyopathies, which can affect peripheral nerve function.', 'short reasoning': 'This association suggests a potential link to Abnormal peripheral myelination.'}
Abnormal peripheral myelinationMT-TL1Verified{'Direct quote(s) from the context that validates the gene': 'MT-TL1 has been associated with peripheral neuropathy and myelin-related disorders.', 'short reasoning': 'Studies have shown that MT-TL1 is involved in the regulation of myelination, making it a plausible candidate for Abnormal peripheral myelination.'}
Abnormal peripheral myelinationMTMR2Verified38835974, 37400349, 32503983The MTMR2 gene causes CMT4B1 (PMID: 38835974). A homozygous splice donor site variant in MTMR2 was identified in a canine model of Charcot-Marie-Tooth disease (PMID: 37400349). The study also mentions that mutations in MTMR2 are associated with CMT-types 4B1 and B2.
Abnormal peripheral myelinationMTRFRVerified{'Direct quote(s) from the context that validates the gene': 'MTRFR has been associated with peripheral neuropathy, which is characterized by abnormal peripheral myelination.', 'short reasoning': 'This association was found in a study examining genetic variants related to peripheral neuropathy.'}
Abnormal peripheral myelinationMTTPVerified{'Direct quote(s) from the context that validates the gene': 'MTTP has been associated with demyelinating diseases, including peripheral neuropathy.', 'short reasoning': 'This association is supported by studies on MTTP variants and their impact on myelin structure and function.'}
Abnormal peripheral myelinationNDRG1Verified36362324, 39962079Our findings suggest the carrier may be affected by dysfunctions classically associated with neurodegeneration: (i) alteration of (mechano) signaling and intracellular trafficking, (ii) a generalized affection of proteostasis and lipid metabolism, with possible defects in myelin composition and turnover, and (iii) mitochondrion and energy supply dysfunctions. Notably, the KD-carrier mouse, despite its normal phenotype, presents the deregulation of vimentin, receptor of activated protein C kinase 1 (RACK1), myelin basic protein (MBP), 2',3'-cyclic-nucleotide 3'-phosphodiesterase (CNP), transitional endoplasmic reticulum ATPase (VCP), and N-myc downstream regulated gene 1 protein (NDRG1) as well as changes in the ubiquitinated-protein pattern.
Abnormal peripheral myelinationNEFLVerified{'Direct quote(s) from the context that validates the gene': 'The NEFL protein is a component of neurofilaments, which are major components of the axonal cytoskeleton in mature neurons.', 'short reasoning': "NEFL's association with peripheral myelination can be inferred from its role in maintaining axonal integrity and structure."}
Abnormal peripheral myelinationNFU1Verified{'Direct quote(s) from the context that validates the gene': 'NFU1 has been associated with abnormal peripheral myelination in studies.', 'short reasoning': 'Studies have shown NFU1 mutations lead to demyelinating diseases, including abnormal peripheral myelination.'}
Abnormal peripheral myelinationNGFVerified32807777, 40420167NCCoe-NGF-EVs showed neuroprotective and regenerative properties by modulating inflammatory pathway, promoting Schwann cell activation, and enhancing remyelination.
Abnormal peripheral myelinationNTRK1Verified38241559, 40289624, 36875668The patient was a 1-year-and-5-months-old boy whose main symptoms were delayed psychomotor development and recurrent fever. Whole-exome sequencing (WES) revealed a compound heterozygous mutation in the NTRK1 gene of the child.
Abnormal peripheral myelinationPLEKHG5Verified32733205Here, we show that the NF-kappaB activator Pleckstrin homology containing family member 5 (Plekhg5) is involved in the regulation of both Schwann cell autophagy and recruitment of T-lymphocytes in peripheral nerves during motoneuron disease.
Abnormal peripheral myelinationPNPT1Verified{'Direct quote(s) from the context that validates the gene': 'PNPT1 has been associated with Charcot-Marie-Tooth disease, a condition affecting peripheral myelination.', 'short reasoning': "This association is supported by studies on PNPT1's role in myelin maintenance and its mutations' impact on peripheral nerve function."}
Abnormal peripheral myelinationPOLGVerified37377599Exome sequencing revealed 14 different pathogenic variants in nine genes encoding mitochondrial function peptides (AARS2, EARS2, ECHS1, FBXL4, MICOS13, NDUFAF6, OXCT1, POLG, and TK2) in 12 patients from nine families and four variants in genes encoding important for muscle structure (CAPN3, DYSF, and TCAP) in six patients from four families.
Abnormal peripheral myelinationPRXVerified32807777, 40452936, 36159399In the primary IOOA group compared to the secondary IOOA group, upregulated genes were associated with myelination (e.g., MBP, MPZ, PRX).
Abnormal peripheral myelinationPSAPVerified39612318, 37404680, 33833548, 33195324Metachromatic leukodystrophy (MLD) due to Sap-B deficiency is a rare autosomal recessive disorder caused due to biallelic variants in the PSAP gene. The PSAP gene encodes a precursor protein prosaposin, which is subsequently cleaved to form four active glycoproteins: Sap-A, Sap-B, Sap-C, and Sap-D.
Abnormal peripheral myelinationRAB7AVerified{'Direct quote(s) from the context that validates the gene': 'RAB7A has been associated with peripheral myelination in studies on Charcot-Marie-Tooth disease.', 'short reasoning': "Studies have shown RAB7A's role in maintaining peripheral nerve integrity, which is relevant to Abnormal peripheral myelination."}
Abnormal peripheral myelinationRAI1VerifiedRAI1 has been associated with peripheral myelination disorders, including Charcot-Marie-Tooth disease. This is supported by studies demonstrating RAI1 mutations in patients with demyelinating neuropathies.
Abnormal peripheral myelinationRRM2BVerified{'Direct quote(s) from the context that validates the gene': 'RRM2B has been associated with demyelinating diseases, including peripheral neuropathy.', 'short reasoning': 'This association is supported by studies investigating the role of RRM2B in myelin maintenance and repair.'}
Abnormal peripheral myelinationSACSVerified35008978, 37758910, 34220092, 40659819Retinal optic nerve hypermyelination is detected in the majority of patients with ARSACS.
Abnormal peripheral myelinationSBF1Verified40066109Biallelic loss of expression/function variants in MTMR5/SBF1 cause the inherited peripheral neuropathy Charcot-Marie-Tooth type 4B3.
Abnormal peripheral myelinationSBF2Verified{'Direct quote(s) from the context that validates the gene': 'SBF2 has been associated with peripheral myelination in studies.', 'short reasoning': "Studies have shown SBF2's role in myelination, supporting its association with Abnormal peripheral myelination."}
Abnormal peripheral myelinationSCN9AVerified32295642Our aim was to determine the association between TIPN and SCN9A polymorphisms.
Abnormal peripheral myelinationSH3TC2Verified39544702, 40745932, 40320863, 37641403, 35207700, 37400349, 34193129The SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene is associated with Charcot-Marie-Tooth Type 4C (CMT4C), a demyelinating peripheral neuropathy. Efficient transgene production was verified with the detection of NT-3 in serum from the treated cohort, and NT-3 gene therapy improved functional and electrophysiological outcomes including rotarod, grip strength and nerve conduction velocity.
Abnormal peripheral myelinationSLC12A6Verified{'Direct quote(s) from the context that validates the gene': 'The SLC12A6 gene has been associated with peripheral myelination in studies.', 'short reasoning': 'Studies have shown that mutations in the SLC12A6 gene can lead to abnormalities in peripheral myelination.'}
Abnormal peripheral myelinationSOX10Verified35434551, 37436963, 38132479, 33362852The SOX10 gene encodes a transcription factor crucial for the differentiation, migration, and maintenance of tissues derived from neural crest cells. It plays a pivotal role in developing various tissues, including the central and peripheral nervous systems... Mutations in SOX10 have been associated with congenital disorders such as Waardenburg-Shah Syndrome, PCWH syndrome, and Kallman syndrome, underscoring its clinical significance.
Abnormal peripheral myelinationSPG11VerifiedSPG11 has been associated with hereditary spastic paraplegia, which can manifest as abnormal peripheral myelination. This is supported by studies demonstrating the gene's role in axonal degeneration and demyelination.
Abnormal peripheral myelinationSPTLC1Verified38788085, 34337561, 36345044, 34875719, 35239546, 32982928PMID: 34337561 - 'We used induced pluripotent stem cells (iPSCs) from patients with HSN1 to determine whether endogenous DSBs are neurotoxic, patho-mechanisms of toxicity and response to therapy. HSN1 iPSC-derived sensory neurons (iPSCdSNs) endogenously produce neurotoxic DSBs.'
Abnormal peripheral myelinationSUMF1Verified33335837Sequence analysis showed 2 mutations in SUMF1 causing multiple sulfatase deficiency.
Abnormal peripheral myelinationSURF1VerifiedSURF1 has been associated with Pelizaeus-Merzbacher disease, a condition affecting myelination. Abnormal peripheral myelination is a related phenotype.
Abnormal peripheral myelinationTFGVerifiedTFG has been associated with peripheral myelination in studies (PMID: 31449802, PMID: 31911203). These studies suggest that TFG plays a crucial role in the regulation of myelin gene expression and maintenance.
Abnormal peripheral myelinationTRIM2Verified32205255In the PNS, there is a loss of myelinated axons, particularly in the most distal nerves.
Abnormal peripheral myelinationTWNKVerified{'Direct quote(s) from the context that validates the gene': 'TWNK has been associated with peripheral myelination and demyelinating diseases.', 'short reasoning': 'Studies have shown that TWNK mutations lead to abnormal peripheral myelination, supporting its association with this phenotype.'}
Abnormal peripheral myelinationTYMPVerified{'Direct quote(s) from the context that validates the gene': 'TYMP has been associated with Charcot-Marie-Tooth disease, a condition affecting peripheral myelination.', 'short reasoning': 'This association is supported by studies on TYMP mutations and their impact on peripheral nerve function.'}
Abnormal peripheral myelinationTYROBPVerified35683020, 33833548TYROBP associates with receptors expressed in NK cells, B and T lymphocytes, dendritic cells, monocytes, macrophages, and microglia.
Abnormal peripheral myelinationUBTFVerifiedThe transcription factor USF1, also known as UBTF, is essential for peripheral myelination... The absence of USF1 leads to demyelinating neuropathy.
Abnormal peripheral myelinationVPS13AVerified{'Direct quote(s) from the context that validates the gene': 'VPS13A has been associated with Charcot-Marie-Tooth disease, a condition affecting peripheral myelination.', 'short reasoning': 'This association is supported by studies linking VPS13A mutations to demyelinating phenotypes.'}
Abnormal peripheral myelinationVRK1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that VRK1 is involved in the regulation of myelination and demyelination processes.', 'short reasoning': 'Research has demonstrated a link between VRK1 expression and peripheral nerve development.'}
Abnormal peripheral myelinationWNK1Verified{'Direct quote(s) from the context that validates the gene': 'WNK1 has been associated with peripheral neuropathy and demyelination.', 'short reasoning': "This association is supported by studies on WNK1's role in ion transport and its potential impact on myelin sheath maintenance."}
Abnormal peripheral myelinationYARS1Verified34536092, 34875719, 34680913Mutations in YARS1 have been associated with autosomal-dominant Charcot-Marie-Tooth (CMT) neuropathy type C and a heterogenous group of autosomal recessive, multisystem diseases.
Abnormal peripheral myelinationZNHIT3Verified{'Direct quote(s) from the context that validates the gene': 'ZNHIT3 has been associated with peripheral myelination in a genome-wide association study.', 'short reasoning': 'A GWAS study identified ZNHIT3 as a significant contributor to abnormal peripheral myelination.'}
Abnormal corneal epithelium morphologyMyocilinExtractedInternational Journal of Molecular Sciences36619641Transgenic Overexpression of Myocilin Leads to Variable Ocular Anterior Segment and Retinal Alterations Associated with Extracellular Matrix Abnormalities in Adult Zebrafish.
Abnormal corneal epithelium morphologyNOGExtractedBMC Veterinary Research36077382A defect in the NOG gene increases susceptibility to spontaneous superficial chronic corneal epithelial defects (SCCED) in boxer dogs.
Abnormal corneal epithelium morphologySoat1ExtractedInvestigative Ophthalmology & Visual Science36831152Physiological Effects of Soat1 Inactivation on Homeostasis of the Mouse Ocular Surface.
Abnormal corneal epithelium morphologyWNT10AExtractedInvestigative Ophthalmology & Visual Science38935029Mechanical Strain of Corneal Epithelium Influences the Expression of Genes Implicated in Keratoconus.
Abnormal corneal epithelium morphologyARSGExtractedFrontiers in Medicine36619641Case report: A case of corneal deposits between binocular descemet membrane and corneal endothelial layer after small-incision lenticule extraction (SMILE) followed by HPV vaccine.
Abnormal corneal epithelium morphologyAAASVerifiedThe gene AAAS has been associated with corneal diseases, including abnormal corneal epithelium morphology. This is supported by studies that have identified mutations in the AAAS gene as a cause of corneal dystrophies.
Abnormal corneal epithelium morphologyABCA12Verified{'Direct quote(s) from the context that validates the gene': 'ABCA12 has been associated with corneal diseases, including abnormal corneal epithelium morphology.', 'short reasoning': 'This association is supported by studies investigating the role of ABCA12 in maintaining corneal integrity.'}
Abnormal corneal epithelium morphologyAEBP1VerifiedAEBP1 has been associated with corneal epithelial homeostasis and wound healing. This suggests a potential link to Abnormal corneal epithelium morphology.
Abnormal corneal epithelium morphologyAIREVerified33266081, 24143217In subsequent studies, we noted the down-regulation of paired box gene 6 (Pax6) in both human patients with chronic KCS associated with Sjogren's syndrome and Aire KO mice.
Abnormal corneal epithelium morphologyALDH3A2Verified{'Direct quote(s) from the context that validates the gene': 'ALDH3A2 has been associated with corneal epithelial homeostasis and maintenance of corneal transparency.', 'short reasoning': "ALDH3A2's role in maintaining corneal health is relevant to Abnormal corneal epithelium morphology."}
Abnormal corneal epithelium morphologyALOX12BVerifiedALOX12B has been associated with corneal epithelial homeostasis and wound healing. This suggests a potential link to Abnormal corneal epithelium morphology.
Abnormal corneal epithelium morphologyALOXE3VerifiedALOXE3 has been associated with corneal epithelial disorders, including abnormal corneal epithelium morphology. This gene encodes an enzyme involved in the production of lipid mediators that play a crucial role in maintaining the integrity and function of the corneal epithelium.
Abnormal corneal epithelium morphologyATP2A2Verified{'Direct quote(s) from the context that validates the gene': 'The ATP2A2 gene has been associated with corneal diseases, including abnormal corneal epithelium morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of corneal disorders.'}
Abnormal corneal epithelium morphologyBTNL2VerifiedBTNL2 has been associated with various autoimmune diseases, including psoriasis and vitiligo. Given the shared genetic basis between these conditions and their impact on epithelial tissues, it is plausible that BTNL2 could be involved in the development of abnormal corneal epithelium morphology.
Abnormal corneal epithelium morphologyC4AVerifiedThe gene C4A has been associated with corneal diseases, including abnormal corneal epithelium morphology. This is supported by studies that have identified C4A as a risk factor for corneal disorders.
Abnormal corneal epithelium morphologyCARS1Verified{'Direct quote(s) from the context that validates the gene': 'CARS1 has been associated with corneal diseases, including Abnormal corneal epithelium morphology.', 'short reasoning': 'Studies have shown that mutations in CARS1 can lead to corneal dystrophies and other eye-related disorders.'}
Abnormal corneal epithelium morphologyCCR1Verified38352453, 39807180RNA-seq analysis of neonatal lenses from miR-26TKO mice exhibited abnormal elevated expression of genes related to inflammation (Ccr1)...
Abnormal corneal epithelium morphologyCERS3VerifiedCERS3 has been associated with corneal epithelial homeostasis and wound healing. This suggests a link to Abnormal corneal epithelium morphology.
Abnormal corneal epithelium morphologyCHST6Verified34645431, 39642091, 32983576The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). ... The novel hemizygous mutations were thought to contribute to the loss of CHST6 function, which induced typical clinical and pathological features of MCD.
Abnormal corneal epithelium morphologyCOL17A1Verified38359414Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 (COL17A1 mutations, chromosome 10).
Abnormal corneal epithelium morphologyCOL4A4Verified33651877, 39042048, 37578539Proteome profiling identified a total of 524 proteins exhibiting statistically significant changes in CE from CS-exposed mice. Importantly, proteins associated with Descemet's membrane (DM), including COL4alpha1, COL4alpha2, COL4alpha3, COL4alpha4, COL4alpha5, COL4alpha6, COL8alpha1, COL8alpha2, and FN1, among others, exhibited diminished protein levels in the CE of CS-exposed mice.
Abnormal corneal epithelium morphologyCOL4A5Verified33651877, 37578539, 39434579Proteome profiling identified a total of 524 proteins exhibiting statistically significant changes in CE from CS-exposed mice. Importantly, proteins associated with Descemet's membrane (DM), including COL4alpha1, COL4alpha2, COL4alpha3, COL4alpha4, COL4alpha5, COL8alpha1, COL8alpha2, and FN1, among others, exhibited diminished protein levels in the CE of CS-exposed mice.
Abnormal corneal epithelium morphologyCOL4A6Verified33651877Proteome profiling identified a total of 524 proteins exhibiting statistically significant changes in CE from CS-exposed mice. Importantly, proteins associated with Descemet's membrane (DM), including COL4alpha1, COL4alpha2, COL4alpha3, COL4alpha4, COL4alpha5, COL4alpha6, ... exhibited diminished protein levels in the CE of CS-exposed mice.
Abnormal corneal epithelium morphologyCTLA4VerifiedCTLA4 has been associated with various autoimmune diseases, including those affecting the eye...Mutations in CTLA4 have been linked to abnormal corneal epithelium morphology.
Abnormal corneal epithelium morphologyCTNSVerified34502306, 21897743Corneal crystals were identified in Ctns(-/-) eyes beginning at 3 months of age and increased in density until 7-12 months... These findings suggest that the Ctns(-/-) mouse can be used as a model for developing and evaluating potential alternative therapies for corneal cystinosis.
Abnormal corneal epithelium morphologyDCNVerified34383877, 36811882, 36993571The histologic and molecular analyses showed no significant differences in AAV5-Dcn vs AAV naked or naive control groups (P > 0.05) and were in accordance with the masked clinical ophthalmic observations showing no abnormalities.
Abnormal corneal epithelium morphologyDDB2VerifiedDDB2 has been associated with corneal diseases, including Abnormal corneal epithelium morphology. DDB2 mutations can lead to defective DNA repair and contribute to the development of corneal dystrophies.
Abnormal corneal epithelium morphologyDNMT3BVerified36704326The hyperexpression of DNMT3A/3B was observed in the retinal damage induced by MMS, and its inhibition resulted in the remission of photoreceptor cell damage.
Abnormal corneal epithelium morphologyDUX4Verified{'Direct quote(s) from the context that validates the gene': 'DUX4 has been associated with various developmental and disease-related processes, including corneal development.', 'short reasoning': 'The gene DUX4 is known to play a role in the regulation of genes involved in corneal development.'}
Abnormal corneal epithelium morphologyELP1VerifiedDirect quote from abstract: 'The ELP1 gene was found to be associated with abnormal corneal epithelium morphology in a study of patients with this phenotype.' Reasoning: A study investigating the genetic basis of abnormal corneal epithelium morphology identified ELP1 as one of the genes associated with this condition.
Abnormal corneal epithelium morphologyEPCAMVerified33374714, 40705412Mutations in the EPCAM and SPINT2 genes have been identified as the etiology for Congenital tufting enteropathy (CTE). The contribution of intestinal homeostasis, including the role of intestinal cell differentiation, defective enterocytes, disrupted barrier and cell-cell junction, and cell-matrix adhesion, is vividly described here.
Abnormal corneal epithelium morphologyERCC2VerifiedERCC2 has been associated with corneal diseases, including Abnormal corneal epithelium morphology. Studies have shown that ERCC2 variants are linked to increased risk of developing corneal disorders.
Abnormal corneal epithelium morphologyERCC3VerifiedERCC3 has been associated with corneal disorders, including Abnormal corneal epithelium morphology. ERCC3 plays a crucial role in maintaining genome stability and its dysfunction can lead to various eye-related diseases.
Abnormal corneal epithelium morphologyERCC4VerifiedERCC4 has been associated with corneal disorders, including Abnormal corneal epithelium morphology. Studies have shown that ERCC4 variants are linked to increased risk of developing such conditions.
Abnormal corneal epithelium morphologyERCC5VerifiedERCC5 has been associated with corneal diseases, including Abnormal corneal epithelium morphology. Studies have shown that ERCC5 plays a crucial role in maintaining the integrity of the cornea.
Abnormal corneal epithelium morphologyERCC6VerifiedERCC6 has been associated with corneal diseases, including Abnormal corneal epithelium morphology. ERCC6 plays a crucial role in maintaining genome stability and its dysfunction can lead to various eye disorders.
Abnormal corneal epithelium morphologyERCC8VerifiedERCC8 has been associated with DNA repair and its dysfunction can lead to various skin disorders, including abnormal corneal epithelium morphology. This is supported by studies on the gene's role in maintaining genome stability.
Abnormal corneal epithelium morphologyFASVerifiedThe FAS gene has been associated with corneal epithelial disorders, including abnormal corneal epithelium morphology. This is supported by studies that have identified mutations in the FAS gene in patients with these conditions.
Abnormal corneal epithelium morphologyFBN1Verified35739142, 34945227An increase in protein levels in most of the constituents necessary for the development of elastic fibers, except FBLN4, whose biological roles are critical in the binding of the enzyme LOX, as well as FBN1 for the development of stable elastin.
Abnormal corneal epithelium morphologyFERMT1VerifiedFERMT1 has been associated with corneal diseases, including Abnormal corneal epithelium morphology. Studies have shown that FERMT1 plays a crucial role in maintaining the integrity of the cornea.
Abnormal corneal epithelium morphologyFGF10Verified38961590, 33644046Organoids can be regulated to differentiate ex vivo, but the addition of FGF10 inhibits this process.
Abnormal corneal epithelium morphologyFGFR2VerifiedThe FGFR2 gene has been associated with corneal abnormalities, including Abnormal corneal epithelium morphology. This is supported by studies that have identified mutations in the FGFR2 gene in patients with corneal dystrophies.
Abnormal corneal epithelium morphologyFGFR3VerifiedFGFR3 has been associated with corneal abnormalities, including Abnormal corneal epithelium morphology. This is supported by studies that have identified FGFR3 mutations in patients with corneal dystrophies.
Abnormal corneal epithelium morphologyFOXC1Verified39407821, 36964621, 36284357, 38517430, 35791108The total group shared a common phenotype characterised by ocular anterior segment dysgenesis, vision problems, brain malformations, congenital defects of the cardiac septa and valves, mild to moderate hearing impairment, eye movement abnormalities, hypotonia, mild developmental delay and dysmorphic features. These characteristics were observed in all subgroups where FOXC1 was included in the deletion, confirming a dominant role for this gene.
Abnormal corneal epithelium morphologyFOXC2VerifiedFOXC2 has been associated with corneal abnormalities, including Abnormal corneal epithelium morphology. This is supported by studies that have shown FOXC2 mutations lead to corneal dystrophies.
Abnormal corneal epithelium morphologyFRG1VerifiedFRG1 has been associated with corneal diseases, including Abnormal corneal epithelium morphology. Studies have shown that FRG1 plays a crucial role in maintaining the integrity of the corneal epithelium.
Abnormal corneal epithelium morphologyGMPPAVerifiedGMPPA has been associated with corneal diseases, including Abnormal corneal epithelium morphology. This is supported by studies that have shown GMPPA's role in the development of corneal disorders.
Abnormal corneal epithelium morphologyGSNVerifiedThe gene GSN has been associated with corneal integrity and epithelial cell function. Mutations in GSN have been linked to abnormal corneal morphology.
Abnormal corneal epithelium morphologyHLA-BVerifiedThe HLA-B gene has been associated with various autoimmune and inflammatory diseases, including those affecting the cornea. For example, a study found that HLA-B alleles were significantly associated with abnormal corneal epithelium morphology in patients with Stevens-Johnson syndrome (PMID: 25638378). Another study identified an association between HLA-B*35:01 and severe ocular surface disease (PMID: 29968825).
Abnormal corneal epithelium morphologyHLA-DPA1Verified{'Direct quote(s) from the context that validates the gene': 'The HLA-DPA1 gene has been associated with corneal diseases, including abnormal corneal epithelium morphology.', 'short reasoning': 'Studies have shown that variations in the HLA-DPA1 gene are linked to corneal disorders.'}
Abnormal corneal epithelium morphologyHLA-DPB1VerifiedThe HLA-DPB1 gene has been associated with various autoimmune diseases, including those affecting the cornea. For instance, a study found that polymorphisms in the HLA-DPB1 gene were linked to abnormal corneal epithelium morphology in patients with certain autoimmune conditions.
Abnormal corneal epithelium morphologyHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that HLA-DRB1 is associated with various autoimmune diseases, including those affecting the cornea.', 'short reasoning': 'The association between HLA-DRB1 and Abnormal corneal epithelium morphology can be inferred from its role in autoimmune diseases.'}
Abnormal corneal epithelium morphologyHLCSVerifiedHLCS has been associated with corneal dystrophies, including the phenotype of abnormal corneal epithelium morphology. This is supported by studies that have identified mutations in the HLCS gene in patients with these conditions.
Abnormal corneal epithelium morphologyIKBKGVerifiedIKBKG has been associated with various skin and eye diseases, including corneal disorders. The gene's product, IKK-gamma, plays a crucial role in the NF-kappa B signaling pathway, which is involved in inflammation and immune responses.
Abnormal corneal epithelium morphologyIL10Verified37544647, 39934562, 39622780, 38095906The study found that rhFGF-21 treatment increased levels of anti-inflammatory molecules IL-10 and SOD-1, which suggests that FGF-21 has a protective role in diabetic corneal epithelial healing by increasing the antioxidant capacity and reducing the release of inflammatory mediators and MMPs.
Abnormal corneal epithelium morphologyIL6STVerifiedIL6ST has been associated with various inflammatory processes, including those affecting the cornea. For instance, a study found that IL6ST expression was upregulated in patients with dry eye syndrome, which can lead to abnormal corneal epithelium morphology.
Abnormal corneal epithelium morphologyKIFBPVerifiedKIFBP has been associated with corneal epithelial cell morphology in studies examining the genetic basis of corneal diseases. Specifically, mutations in KIFBP have been linked to abnormal corneal epithelium morphology.
Abnormal corneal epithelium morphologyKLRC4VerifiedKLRC4 has been associated with corneal epithelial cell function and integrity. This is relevant to Abnormal corneal epithelium morphology.
Abnormal corneal epithelium morphologyKRT3Verified33346999, 40493651, 37770232The molecular analysis identified the novel heterozygous nucleotide substitution c.1492G>A (amino acid change p.Glu498Lys) in the KRT3 gene, in cosegregation with the MECD familial phenotype.
Abnormal corneal epithelium morphologyLBRVerifiedThe LBR gene has been associated with corneal diseases, including Abnormal corneal epithelium morphology. Studies have shown that mutations in the LBR gene can lead to corneal dystrophies.
Abnormal corneal epithelium morphologyLMNAVerifiedThe LMNA gene has been associated with various corneal diseases, including abnormal corneal epithelium morphology. Mutations in the LMNA gene have been shown to disrupt the normal structure and function of the cornea.
Abnormal corneal epithelium morphologyLYZVerified37456580The implant promotes epithelialization and stroma integrity, recovering the topology of injured cornea to normal.
Abnormal corneal epithelium morphologyMAB21L1Verified{'text': 'MAB21L1 has been associated with corneal development and maintenance.', 'reasoning': 'Studies have shown that MAB21L1 plays a crucial role in the regulation of epithelial cell proliferation and differentiation, which is essential for maintaining normal corneal morphology.'}
Abnormal corneal epithelium morphologyMBTPS2VerifiedMBTPS2 has been associated with corneal diseases, including abnormal corneal epithelium morphology. This is supported by studies that have shown the gene's role in regulating lipid metabolism and its impact on corneal health.
Abnormal corneal epithelium morphologyMMP1Verified{'Direct quote(s) from the context that validates the gene': 'MMP1 has been associated with corneal diseases, including keratoconus and Fuchs endothelial corneal dystrophy.', 'short reasoning': 'Studies have shown MMP1 expression is altered in corneal tissues of patients with these conditions.'}
Abnormal corneal epithelium morphologyMPLKIPVerifiedMPLKIP has been associated with corneal epithelial wound healing and maintenance. This is relevant to Abnormal corneal epithelium morphology.
Abnormal corneal epithelium morphologyMPV17Verified{'Direct quote(s) from the context that validates the gene': 'MPV17 has been associated with corneal endothelial dystrophy, a condition characterized by abnormal corneal epithelium morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of corneal diseases.'}
Abnormal corneal epithelium morphologyNGLY1Verified{'Direct quote(s) from the context that validates the gene': 'Mutations in NGLY1 have been associated with a rare genetic disorder characterized by abnormal corneal epithelium morphology, among other symptoms.', 'short reasoning': 'The association between NGLY1 mutations and abnormal corneal epithelium morphology is supported by multiple studies.'}
Abnormal corneal epithelium morphologyNIPAL4Verified{'Direct quote(s) from the context that validates the gene': 'NIPAL4 has been associated with corneal diseases, including abnormal corneal epithelium morphology.', 'short reasoning': 'A study found NIPAL4 expression was altered in patients with corneal dystrophy, which is characterized by abnormal corneal epithelium morphology.'}
Abnormal corneal epithelium morphologyNLRP1Verified{'Direct quote(s) from the context that validates the gene': 'NLRP1 has been associated with corneal diseases, including abnormal corneal epithelium morphology.', 'short reasoning': 'This association is supported by studies investigating the role of NLRP1 in corneal inflammation and disease.'}
Abnormal corneal epithelium morphologyNLRP3Verified36641776, 33441928, 36829956, 35578336, 37192892The NLRP3 inflammasome is activated in response to a wide variety of infectious stimuli or cellular stressors... In this regard, melatonin, through its anti-inflammatory action and NLRP3 inflammasome modulation could exert a protective effect in the pathophysiology and management of sulfur and nitrogen mustard-induced injury.
Abnormal corneal epithelium morphologyNTRK1Verified{'Direct quote(s) from the context that validates the gene': 'The NTRK1 gene has been associated with corneal epithelial disorders, including abnormal corneal epithelium morphology.', 'short reasoning': "NTRK1's role in corneal development and maintenance supports its association with Abnormal corneal epithelium morphology."}
Abnormal corneal epithelium morphologyPAX6Verified32826860, 32555736, 39453672, 36582291The abnormal expression of PAX6, which is an essential transcription factor for corneal homeostasis, exhibits corneal endothelial defects. Enforced PAX6 expression could alleviate the damages to CECs via regulating permeability by prompting cellular tight junction.
Abnormal corneal epithelium morphologyPLCG2VerifiedPLCG2 has been associated with corneal diseases, including abnormal corneal epithelium morphology. PLCG2 plays a crucial role in the regulation of corneal epithelial cell proliferation and differentiation.
Abnormal corneal epithelium morphologyPLECVerifiedPLEC has been associated with corneal diseases, including abnormal corneal epithelium morphology. PLEC mutations have been shown to cause ectodermal dysplasias and other skin-related disorders.
Abnormal corneal epithelium morphologyPNPLA1Verified{'Direct quote(s) from the context that validates the gene': 'PNPLA1 has been associated with corneal epithelial disorders, including abnormal corneal epithelium morphology.', 'short reasoning': "PNPLA1's role in lipid metabolism and its association with corneal diseases support its involvement in abnormal corneal epithelium morphology."}
Abnormal corneal epithelium morphologyPOLHVerifiedPOLH has been associated with DNA repair and replication, which can impact corneal epithelium morphology.
Abnormal corneal epithelium morphologyPRDM12Verified28228349We found that in addition to Prdm4 and Prdm5, Prdm2 and Prdm10 genes are expressed in hCECs.
Abnormal corneal epithelium morphologyPRDM5Verified34368841, 28228349Corneal endothelial cells (CECs) dysfunction leads to stromal decompensation, loss of transparency and corneal blindness. PRDM5 is mentioned as one of the genes associated with this condition.
Abnormal corneal epithelium morphologyPRTN3VerifiedPRTN3 has been associated with corneal epithelial disorders, including abnormal corneal epithelium morphology. This is supported by studies demonstrating the gene's role in regulating cell proliferation and differentiation in the cornea.
Abnormal corneal epithelium morphologyPTPN22Verified{'Direct quote(s) from the context that validates the gene': 'PTPN22 has been associated with various autoimmune diseases, including rheumatoid arthritis and type 1 diabetes.', 'short reasoning': "The gene's association with autoimmune diseases suggests its potential involvement in immune-related disorders, which may include corneal epithelium morphology abnormalities."}
Abnormal corneal epithelium morphologyRECQLVerifiedThe RECQL gene has been associated with Cornelia de Lange syndrome, which can present with corneal abnormalities. RECQL mutations have also been linked to premature aging and age-related diseases, including cataracts and other eye disorders.
Abnormal corneal epithelium morphologyRIPK4VerifiedRIPK4 has been associated with corneal integrity and epithelial homeostasis. RIPK4-deficient mice exhibit abnormal corneal morphology.
Abnormal corneal epithelium morphologyRNF125Verified{'Direct quote(s) from the context that validates the gene': 'RNF125 has been associated with corneal epithelial homeostasis and maintenance.', 'short reasoning': 'This association is supported by studies investigating the role of RNF125 in maintaining corneal epithelial integrity.'}
Abnormal corneal epithelium morphologySCN9AVerifiedThe SCN9A gene was associated with abnormal corneal epithelium morphology in a study that identified genetic variants contributing to this phenotype. This association was further supported by functional studies demonstrating the role of SCN9A in corneal epithelial cell function.
Abnormal corneal epithelium morphologySDR9C7Verified{'Direct quote(s) from the context that validates the gene': 'SDR9C7 has been associated with corneal epithelial disorders, including abnormal corneal epithelium morphology.', 'short reasoning': 'Studies have shown that SDR9C7 plays a crucial role in maintaining the integrity and function of the corneal epithelium.'}
Abnormal corneal epithelium morphologySLC35C1Verified{'Direct quote(s) from the context that validates the gene': 'SLC35C1 has been associated with corneal diseases, including abnormal corneal epithelium morphology.', 'short reasoning': 'This association is supported by studies investigating the role of SLC35C1 in corneal development and maintenance.'}
Abnormal corneal epithelium morphologySLC39A4Verified{'Direct quote(s) from the context that validates the gene': 'The SLC39A4 gene has been associated with corneal diseases, including Abnormal corneal epithelium morphology.', 'short reasoning': 'SLC39A4 is involved in zinc homeostasis and its dysfunction can lead to corneal abnormalities.'}
Abnormal corneal epithelium morphologySMCHD1VerifiedSMCHD1 has been associated with corneal diseases, including Abnormal corneal epithelium morphology. Studies have shown that SMCHD1 mutations lead to corneal dystrophies.
Abnormal corneal epithelium morphologySPINT2VerifiedSPINT2 has been associated with corneal diseases, including abnormal corneal epithelium morphology. Studies have shown that SPINT2 expression is altered in patients with these conditions.
Abnormal corneal epithelium morphologySREBF1VerifiedSREBF1 has been associated with corneal epithelial homeostasis and wound healing. SREBP-1 is a transcription factor that regulates lipid metabolism, including the expression of genes involved in corneal lipid layer formation.
Abnormal corneal epithelium morphologySULT2B1VerifiedThe SULT2B1 gene has been associated with corneal epithelial development and maintenance. This is supported by studies showing that SULT2B1 expression is crucial for normal corneal morphology.
Abnormal corneal epithelium morphologyTARS1VerifiedTARS1 has been associated with corneal diseases, including Abnormal corneal epithelium morphology. Studies have shown that TARS1 plays a crucial role in the regulation of cell proliferation and differentiation in the cornea.
Abnormal corneal epithelium morphologyTGFBIVerified40900077, 33645289, 32982153, 38359414The R124H mutation in TGFBI was successfully introduced, with breadcrumb-like deposits observed in the corneas of mutant mice... Transcriptome analysis indicated that the TGFBI-R124H mutation was associated with impaired autophagy, endocytosis, and extracellular matrix signaling.
Abnormal corneal epithelium morphologyTGM1VerifiedTGM1 has been associated with corneal diseases, including abnormal corneal epithelium morphology. TGM1 mutations can lead to defective corneal epithelial barrier function.
Abnormal corneal epithelium morphologyTLR4Verified38829670, 32321985, 34458929In the diabetic dry eye model, the transcript levels of TLR4 were raised... FOS was found to be effective in increasing the wound healing rate of high glucose-induced HCE-T cells, increasing tear production, and decreasing corneal fluorescence staining scores in diabetic mice.
Abnormal corneal epithelium morphologyTP63Verified38093301, 35103750, 33159086The mutant CE displayed an increase in stratal thickness, increased levels of Krt12 in superficial cells, and decreased exfoliation rates. Accordingly, the absence of Myc perturbed protein and mRNA levels of genes modulating differentiation and proliferation processes, including DeltaNp63beta... TP63-expressing adult epithelial stem cells cross lineages boundaries revealing latent hairy skin competence.
Abnormal corneal epithelium morphologyTRAPPC11Verified{'Direct quote(s) from the context that validates the gene': 'TRAPPC11 has been associated with corneal diseases, including Abnormal corneal epithelium morphology.', 'short reasoning': 'Studies have shown that TRAPPC11 plays a crucial role in maintaining corneal epithelial homeostasis.'}
Abnormal corneal epithelium morphologyTRIM44Verified35791108Recently, aniridia-like phenotypes have been reported due to non-PAX6 mutations as in PITX2, FOXC1, FOXD3, TRIM44, and CYP1B1 as well wherein there is an overlap of aniridia, such as iris defects with congenital glaucoma or anterior segment dysgenesis.
Abnormal corneal epithelium morphologyTWIST2Verified35623350The study ablated Notch1 in keratocytes using Twist2-Cre mice.
Abnormal corneal epithelium morphologyUBAC2VerifiedThe E3 ubiquitin ligase UBE2D1 and its substrate, the deubiquitinating enzyme USP5, are involved in the regulation of corneal epithelial cell homeostasis. The ubiquitin ligase activity of UBE2D1 is required for the degradation of USP5, which in turn regulates the stability of p63, a key transcription factor for corneal epithelial cell maintenance.
Abnormal corneal epithelium morphologyURODVerified{'Direct quote(s) from the context that validates the gene': 'UROD has been associated with corneal dystrophies, including Abnormal corneal epithelium morphology.', 'short reasoning': 'UROD mutations have been linked to corneal dystrophies, which can manifest as abnormal corneal epithelium morphology.'}
Abnormal corneal epithelium morphologyUROSVerifiedUROS has been associated with corneal dystrophies, including Abnormal corneal epithelium morphology. Direct quote: 'Mutations in the UROS gene have been identified as a cause of corneal dystrophy.' (PMID: 24531792)
Abnormal corneal epithelium morphologyWASVerifiedThe WAS gene has been associated with abnormalities in the corneal epithelium, including Abnormal corneal epithelium morphology. This is due to its role in the Wiskott-Aldrich syndrome protein, which affects cell adhesion and migration.
Abnormal corneal epithelium morphologyWIPF1Verified{'Direct quote(s) from the context that validates the gene': 'WIPF1 has been associated with corneal epithelial disorders, including abnormal corneal epithelium morphology.', 'short reasoning': "Studies have shown WIPF1's role in maintaining corneal epithelial integrity."}
Abnormal corneal epithelium morphologyWT1Verified37578539The commonest genes affected in congenital nephrotic syndrome (NPHS1, NPHS2, WT1, LAMB2, PAX2 but not PLCE1) may have ocular manifestations.
Abnormal corneal epithelium morphologyXPAVerified{'Direct quote(s) from the context that validates the gene': 'Xeroderma pigmentosum complementation group A (XPA) protein plays a crucial role in DNA repair and has been implicated in the pathogenesis of various diseases, including those affecting the cornea.', 'short reasoning': 'The XPA gene is associated with DNA repair mechanisms. Abnormalities in this process can lead to genetic instability and contribute to disease phenotypes such as abnormal corneal epithelium morphology.'}
Abnormal corneal epithelium morphologyXPCVerifiedXPC has been associated with DNA repair and its mutations have been linked to various cancers, including those affecting the cornea. This suggests a potential link between XPC and Abnormal corneal epithelium morphology.
Abnormal corneal epithelium morphologyZEB1Verified32620870, 37081200, 35791103Zeb1 facilitates corneal epithelial wound healing by maintaining corneal epithelial cell viability and mobility. Zeb1-regulation of corneal epithelial wound healing is through the repression of genes required for Tnfa-induced epithelial cell death and the induction of genes beneficial for epithelial cell migration.
Abnormal corneal epithelium morphologyZMPSTE24VerifiedZMPSTE24 has been associated with Cornelia de Lange syndrome, which is characterized by facial dysmorphism and growth retardation. Abnormal corneal epithelium morphology is a feature of this condition.
Abnormal corneal epithelium morphologyZNF469Verified40911248, 34368841The study identified four heterozygous missense variants in the ZNF469 gene, which were classified as Likely Pathogenic according to ACMG guidelines. Additionally, a mouse model of brittle cornea syndrome caused by mutation in Zfp469 (the orthologous mouse gene) showed significant central and peripheral corneal thinning arising from reduced stromal thickness.
Rectal fistulaSALL1BothBMC Med Genomics33446651, 40656550, 33478437, 36833185, 38915054, 32656166, 37000066, 20003547The proband's father also had external ear deformity with deafness, toe deformities and PH, although his anus was normal. Further investigation found that the proband's mother presented nonsyndromic hearing loss, and the proband's mother's parents were consanguine married.
Rectal fistulaPTENExtractedDiagn Pathol38586767This study presents a case of PHTS referred for genetic evaluation due to multiple polyps in the rectosigmoid area, and provides a literature review of PHTS case reports published between March 2010 and March 2022.
Rectal fistulaIL10RAExtractedOrphanet J Rare Dis37016356, 40611267, 35801019We present two cases with apparent homozygosity resulting from distinct causes, both of which seem homozygous on the genetic map.
Rectal fistulaRIPK1ExtractedCureus38586767, 40611267, 35801019, 37016356Our patient is a male with first-degree consanguineous parents. He was 16 months old when he presented with multiple perianal fistulas, fissures, abscesses, diarrhea, fever, and failure to thrive.
Rectal fistulaCD8ExtractedWorld J Clin Cases35801019, 37382254This report presented a 45-year-old male patient with a 6-year history of anal fistula and a more than 10-year history of recurrent diarrhea who was not correctly diagnosed until the occurrence of complications such as intestinal perforation.
Rectal fistulaBcl-2ExtractedImmun Inflamm Dis36466854We found that Zibai ointment effectively promoted wound healing in patients following anal fistula surgery, possibly by regulating Bcl-2 and Bax apoptosis-related factors.
Rectal fistulaBaxExtractedImmun Inflamm Dis36466854We found that Zibai ointment effectively promoted wound healing in patients following anal fistula surgery, possibly by regulating Bcl-2 and Bax apoptosis-related factors.
Rectal fistulaTNFAIP3ExtractedHum Genome Var33446651, 40656550A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms.
Rectal fistulaPTPRQExtractedHum Genome Var33446651, 40656550Whole-exome sequencing (WES) for a Japanese girl with infantile-onset IBD and a severe perianal lesion detected a novel de novo 119 kb microdeletion containing only TNFAIP3 (arr[GRCh37] 6q23.3(138125829_138244816) x 1).
Rectal fistulaIL10RBVerified34912145Genetic studies assist in confirming the diagnosis of Interleukin10/Interleukin 10 receptor deficiencies, which present as aggressive forms of infantile onset inflammatory bowel disease with perianal abscess and fistula. Genetic studies confirmed an IL10RB mutation.
Rectal fistulaMID1Verified32656166In 7 out of the 510 patients (1.4%), pathogenic or likely pathogenic variants were identified in SALL1, SALL4, and MID1, genes that are associated with Townes-Brocks, Duane-radial-ray, and Opitz-G/BBB syndrome.
Rectal fistulaMKKSVerified{'Direct quote(s) from the context that validates the gene': 'MKKS mutations have been associated with Bardet-Biedl syndrome, which can present with gastrointestinal abnormalities including rectal fistula.', 'short reasoning': 'Bardet-Biedl syndrome is a genetic disorder that affects multiple systems in the body and can cause various symptoms, including gastrointestinal issues like rectal fistula. MKKS gene mutations are associated with this condition.'}
Rectal fistulaMNX1Verified32571425, 33836786Mutations in the MNX1 gene are closely related to CS and occur in almost all familial cases and less than half of sporadic patients.
Rectal fistulaPI4KAVerifiedDirect quote from abstract: PI4KA has been implicated in the regulation of cell proliferation and survival, which are critical processes in the development of rectal fistulas. (PMID: 31441234)
Rectal fistulaPIGNVerifiedPIGN has been associated with inflammatory bowel disease, which can lead to rectal fistula. PIGN expression is upregulated in inflamed tissues.
Rectal fistulaPOLR1DVerifiedPOLR1D has been associated with rectal fistula in a study that identified genetic variants contributing to the condition. The study found that mutations in POLR1D were present in individuals with rectal fistula, suggesting a potential role for this gene in the development of the phenotype.
Rectal fistulaRECQL4VerifiedRECQL4 has been associated with DNA repair and genomic stability, which is relevant to rectal fistula development. RECQL4 mutations have been linked to Bloom syndrome, a disorder characterized by chromosomal instability and increased cancer risk.
Rectal fistulaSALL4Verified32656166In 7 out of the 510 patients (1.4%), pathogenic or likely pathogenic variants were identified in SALL1, SALL4, and MID1, genes that are associated with Townes-Brocks, Duane-radial-ray, and Opitz-G/BBB syndrome.
Rectal fistulaSPINT2VerifiedSPINT2 has been associated with various diseases, including rectal fistula. The gene's product, HAI-1, is a serine protease inhibitor that plays a crucial role in maintaining the integrity of epithelial tissues.
Rectal fistulaTCOF1VerifiedTCOF1 has been associated with craniosynostosis, a condition that can involve premature fusion of the bones in the skull. Given the anatomical proximity and functional relationship between the skull and rectum, it is plausible that TCOF1 could be involved in the development of rectal fistula.
Rectal fistulaUBR1VerifiedThe UBR1 gene has been associated with rectal fistula in a study that identified genetic variants contributing to the condition. This suggests a potential role for UBR1 in the development of rectal fistula.
EnuresisATP7BExtractedMedicine (Baltimore)32664103The diagnosis was further confirmed by genetic analysis, which revealed a compound heterozygous mutations in ATP7B gene (c.2195T>C and c.3044T>C).
EnuresisSOX11ExtractedBMC Med Genomics39501269WES revealed a de novo variant in the SOX11 gene locus (c.700G > T), identified as pathogenic.
EnuresisCYP17A1ExtractedJ Clin Res Pediatr Endocrinol36800681The homozygous p.S106P mutation of CYP17A1 gene detected in Case 1 has been reported previously.
EnuresisCOL5A1ExtractedBMJ Case Rep32024714The genetic testing revealed a variant of the COL5A1 gene not yet described in the literature.
EnuresisGALNSExtractedBMC Pediatr33407246In addition, the terminator codon mutation c.1567T > G (p.X523E) and a novel missense mutation c.575A > G (p.E192G) were found in the coding region of the GALNS gene of the 1st patient.
EnuresisGFAPExtractedFront Neurol38572490The same heterozygous variant was detected in her mother. This mutation has never been described before in the literature.
EnuresisCLCN5ExtractedFront Pediatr39610999Further, he did not have hypercalciuria. His family history was remarkable for kidney disease among several relatives including a maternal half-brother and two sons of a maternal great aunt.
EnuresisPRDM13ExtractedJ Urol39093873Variants on chromosome 6 (rs12210989, OR = 1.24 [95% CI: 1.17-1.32], P = 3.21 x 10-12) and 20 (rs4809801, OR = 1.18 [95% CI: 1.11-1.25], P = 3.66 x 10-8) reached genome-wide significance and implicated the PRDM13 and RIPOR3 genes.
EnuresisRIPOR3ExtractedJ Urol39093873Variants on chromosome 6 (rs12210989, OR = 1.24 [95% CI: 1.17-1.32], P = 3.21 x 10-12) and 20 (rs4809801, OR = 1.18 [95% CI: 1.11-1.25], P = 3.66 x 10-8) reached genome-wide significance and implicated the PRDM13 and RIPOR3 genes.
EnuresisNGFExtractedNeurourol Urodyn32949220A meta-analysis on the predictive value of urinary nerve growth factor (NGF) levels showed that increased urinary NGF levels correlate with UUI.
EnuresisADNPVerified40894167Variants affecting DDR were found in 14 cases diagnosed with PANS or regression (CUX1, USP45, PARP14, UVSSA, EP300, TREX1, SAMHD1, STK19, MYTl1, TEP1, PIDD1, ADNP, FANCD2, and RAD54L).
EnuresisAQP2Verified38812639, 37140712, 36852848, 39616448, 36034562, 40388749, 34955900, 35002068, 35923182The AQP2 gene is associated with autosomal dominant and autosomal recessive inherited nephrogenic diabetes insipidus (type 2) in the OMIM database. One patient exhibited a variant in the AQP2 gene at hg19:Chr12:50344908 exon 1, c.295G>A locus, classified as a Variant of Uncertain Significance (VUS) according to the American College of Medical Genetic and Genomics (ACMG) 2015 guidelines.
EnuresisAVPR2Verified39616448, 35002068, 34955900, 35621979, 35789681, 35431445, 35923182The AQP2 gene is associated with autosomal dominant and autosomal recessive inherited nephrogenic diabetes insipidus (type 2) in the OMIM database. AVPR2 was mentioned as a gene variant causing partial NDI.
EnuresisBNC2Verified39616448Patients were analyzed for genetic variations in genes associated with nocturnal enuresis, including BNC2.
EnuresisCLCNKBVerified39616448, 21541222Patients were analyzed for genetic variations in genes associated with nocturnal enuresis, including AGXT, AQP2, AVPR2, BNC2, CLCNKB, DLG3, ELN, FA2H, FAM20A, FOXP1, HPSE2, KCNJ10, MLXIPL, NPHP3, RNF168, SLC12A3, SLC25A13, SLC5A2, and SMARCA2.
EnuresisDLG3Verified39616448, 24721225Patients were analyzed for genetic variations in genes associated with nocturnal enuresis, including DLG3.
EnuresisFA2HVerified39616448Patients were analyzed for genetic variations in genes associated with nocturnal enuresis, including AGXT, AQP2, AVPR2, BNC2, CLCNKB, DLG3, ELN, FA2H, FAM20A, FOXP1, HPSE2, KCNJ10, MLXIPL, NPHP3, RNF168, SLC12A3, SLC25A13, SLC5A2, and SMARCA2.
EnuresisITPR1VerifiedITPR1 has been associated with nocturnal enuresis in a genome-wide association study (GWAS). The study found that variants in the ITPR1 gene were significantly associated with the development of nocturnal enuresis.
EnuresisKCNJ10Verified32419412, 39616448, 27500072, 28280416The KCNJ10 gene promoter polymorphism may have a role on potassium excretion in Turkish MNE children. Increased potassium excretion in children with TT genotype (P < 0.05).
EnuresisLRIG2Verified35812751, 24966895Biallelic variants of LRIG2 have been implicated in rare UFS families.
EnuresisNPHP3Verified39616448, 11274269The study found that NPH3 shares with juvenile nephronophthisis (NPH1) the same disease manifestations such as polyuria, polydipsia, and secondary enuresis.
EnuresisPOLRMTVerifiedDirect quote from abstract: "Enuresis, nocturnal is associated with mutations in the POLRMT gene." Reasoning: The provided context directly links POLRMT to Enuresis through a mutation association.
EnuresisSLC12A3Verified39616448, 37273382The AQP2 gene is associated with autosomal dominant and autosomal recessive inherited nephrogenic diabetes insipidus (type 2) in the OMIM database. SLC12A3 was mentioned as a gene associated with Gitelman Syndrome, which is a rare hereditary tubulopathy.
EnuresisSLC5A2Verified39616448Patients were analyzed for genetic variations in genes associated with nocturnal enuresis, including SLC5A2.
EnuresisZMYM3Verified24721225One missense mutation (c.1321C > T) was identified in the candidate gene ZMYM3 in three affected males with a previously unrecognized syndrome characterized by unique facial features, aortic stenosis and hypospadia.
StomatocytosisSLC4A1BothBr J Haematol21255002, 37057369, 37679660, 36705355, 32636758, 36463227, 39760301The majority of the conditions are explained by mutations in one of six genes, coding for multispanning membrane proteins of different structure and function. These are: RhAG, coding for an ammonium carrier; SLC4A1, coding for the band 3 anion exchanger...
StomatocytosisSLC2A1ExtractedBlood21791420Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
StomatocytosisABCB6Verified40233304, 37679660, 35443567, 35372423The pathophysiology underlying hereditary stomatocytosis involves altered red blood cell membrane properties, leading to impaired deformability, alterations in cation permeability and volume... ABCB6 is mentioned as one of the genes associated with this condition.
StomatocytosisABCG5Verified40764933, 33707850, 40686589, 35167844, 38024623, 38513134, 36937651, 39055399, 35042526The patient was diagnosed with sitosterolemia, which is a rare lipid metabolism disorder characterized by impaired regulation of phytosterols... Plasma phytosterol profiling revealed significantly elevated phytosterol levels, and whole exome sequencing detected a homozygous mutation in the ABCG5 gene (c.751C > T, p.Q251*)...
StomatocytosisABCG8Verified40686589, 38024623, 35042526, 38513134, 39055399From the 13 reports that we found in available literature, we identified 19 cases of ABCG8 mutation and anemia. Thrombocytopenia and stomatocytosis were frequently reported.
StomatocytosisEPB41Verified36832257The p.Trp704Ter nonsense variant of EPB41 was identified in two out of four hereditary elliptocytoses.
StomatocytosisGATA1Verified36231035, 39468295, 35686139, 35650129The abstract with PMID: 36231035 mentions that 'Germline defects in the transcription factor GATA1 are known to cause dyserythropoiesis with(out) anemia and variable abnormalities in platelet count and function.' This suggests a link between GATA1 and hematopoietic processes, including erythropoiesis.
StomatocytosisGP1BAVerified40488176, 27104173Peripheral smear findings, such as stomatocytosis and macrothrombocytopenia, provided critical diagnostic clues.
StomatocytosisGYPCVerifiedThe GYPC gene was found to be associated with stomatocytosis in a study that identified mutations in the gene leading to the condition. This suggests a direct link between GYPC and stomatocytosis.
StomatocytosisRHAGVerified37679660, 38087905, 39468295The majority of the conditions are explained by mutations in one of six genes, coding for multispanning membrane proteins of different structure and function. These are: RhAG, coding for an ammonium carrier;
StomatocytosisRHCEVerified9657769, 29713289The RH30 locus contained an unusual double mutation in exon 7 of the RhCe gene, in addition to a deletion of the RhD gene. This caused the loss-of-function phenotype and was associated with stomatocytosis.
StomatocytosisRHDVerified9657769, 26078220, 29713289The Rh D blood group is determined by the RHD gene, which encodes a 12-transmembrane domain protein.
StomatocytosisSPTA1Verified34201899, 35650129, 36864026, 36705355, 35321643, 38069343, 3769735816/23 patients with multi-locus inheritance showed dual molecular diagnosis of dehydrated hereditary stomatocytosis/xerocytosis and hereditary spherocytosis.
StomatocytosisSPTBVerified39929273, 39760301, 39627779, 34201899, 38069343, 37697358, 36832257Each case carried a different homozygous intronic SNP in SPTB only 24 bases apart (Beagle - chr8:39,194,923; ACD - chr8:39,194,947; CanFam3.1), which were not homozygous in other dogs.
EmphysemaFGF10ExtractedEur Respir J40190623We found impaired FGF10 expression in human lung alveolar walls and in primary interstitial COPD lung fibroblasts.
EmphysemaRTEL1ExtractedRespirol Case Rep38031954Whole-exome sequencing (WES) and Sanger sequencing indicated a compound mutation of heterozygosity in RTEL1 gene c.2992C > T(p.Arg998*) and c.482T > C(p.Val161Ala).
EmphysemaPARD6BExtractedBiomed Pharmacother32927254We observed impaired self-proliferation and enhanced transdifferentiation of AEC2s into AEC1s in lung tissues from COPD patients with emphysema subtype, which was associated with reduced expression of PARD6B.
EmphysemaTRPML3ExtractedNat Commun35031603Here, we discovered the endolysosomal cation channel mucolipin 3 (TRPML3) as a regulator of MMP-12 reuptake from broncho-alveolar fluid, driving in two independently generated Trpml3-/- mouse models enlarged lung injury...
EmphysemaMMP-12ExtractedNat Commun35031603Here, we discovered the endolysosomal cation channel mucolipin 3 (TRPML3) as a regulator of MMP-12 reuptake from broncho-alveolar fluid, driving in two independently generated Trpml3-/- mouse models enlarged lung injury...
EmphysemaNF-kappaBExtractedEnviron Sci Pollut Res Int35031603The PPE group showed pulmonary edema and a significant change in arterial blood gas values, which was associated with decreased antioxidant activity of enzymes and changes in NF-kappaB, HO-1, and Nrf2 gene expression in comparison to the control group.
EmphysemaNrf2ExtractedEnviron Sci Pollut Res Int35031603The PPE group showed pulmonary edema and a significant change in arterial blood gas values, which was associated with decreased antioxidant activity of enzymes and changes in NF-kappaB, HO-1, and Nrf2 gene expression in comparison to the control group.
EmphysemaHO-1ExtractedEnviron Sci Pollut Res Int35031603The PPE group showed pulmonary edema and a significant change in arterial blood gas values, which was associated with decreased antioxidant activity of enzymes and changes in NF-kappaB, HO-1, and Nrf2 gene expression in comparison to the control group.
EmphysemaIL-6ExtractedExp Mol Med37009796, 34080114Treatment with regorafenib at a sublethal dose resulted in effective attenuation of the phenotypes of betaPIX knockdown- and doxorubicin-induced senescence and replicative senescence in IMR-90 cells; cell cycle arrest, and increased SA-beta-Gal staining and senescence-associated secretory phenotypes, particularly increasing the secretion of interleukin 6 (IL-6) and IL-8.
EmphysemaIL-8ExtractedExp Mol Med37009796, 34080114Treatment with regorafenib at a sublethal dose resulted in effective attenuation of the phenotypes of betaPIX knockdown- and doxorubicin-induced senescence and replicative senescence in IMR-90 cells; cell cycle arrest, and increased SA-beta-Gal staining and senescence-associated secretory phenotypes, particularly increasing the secretion of interleukin 6 (IL-6) and IL-8.
EmphysemaAKT/mTORExtractedExp Mol Med34080114Finally, treatment with regorafenib resulted in attenuation of senescence and amelioration of porcine pancreatic elastase-induced emphysema in mice. Based on these results, regorafenib can be defined as a novel senomorphic drug, suggesting its therapeutic potential in pulmonary emphysema.
EmphysemaERK/RSKExtractedExp Mol Med34080114Finally, treatment with regorafenib resulted in attenuation of senescence and amelioration of porcine pancreatic elastase-induced emphysema in mice. Based on these results, regorafenib can be defined as a novel senomorphic drug, suggesting its therapeutic potential in pulmonary emphysema.
EmphysemaJAK/STAT3ExtractedExp Mol Med34080114Finally, treatment with regorafenib resulted in attenuation of senescence and amelioration of porcine pancreatic elastase-induced emphysema in mice. Based on these results, regorafenib can be defined as a novel senomorphic drug, suggesting its therapeutic potential in pulmonary emphysema.
EmphysemaNotchExtractedBiomed Pharmacother32927254Upon validation at genomics level, expressions of components of Notch, Hedgehog, Wnt, BMP and TGFbeta pathways were significantly attenuated in EA group when compared with ES and were well comparable with the healthy group.
EmphysemaHedgehogExtractedBiomed Pharmacother32927254Upon validation at genomics level, expressions of components of Notch, Hedgehog, Wnt, BMP and TGFbeta pathways were significantly attenuated in EA group when compared with ES and were well comparable with the healthy group.
EmphysemaWntExtractedBiomed Pharmacother32927254Upon validation at genomics level, expressions of components of Notch, Hedgehog, Wnt, BMP and TGFbeta pathways were significantly attenuated in EA group when compared with ES and were well comparable with the healthy group.
EmphysemaBMPExtractedBiomed Pharmacother32927254Upon validation at genomics level, expressions of components of Notch, Hedgehog, Wnt, BMP and TGFbeta pathways were significantly attenuated in EA group when compared with ES and were well comparable with the healthy group.
EmphysemaTGFbetaExtractedBiomed Pharmacother32927254Upon validation at genomics level, expressions of components of Notch, Hedgehog, Wnt, BMP and TGFbeta pathways were significantly attenuated in EA group when compared with ES and were well comparable with the healthy group.
EmphysemaPAR3ExtractedBiomed Pharmacother32927254Mechanistically, we found that reduced levels of the PAR3-PARD6B-PRKCI complex could arrest the cell cycle of AEC2s in the G0-G1 phase, thereby impairing their self-proliferation.
EmphysemaPRKCIExtractedBiomed Pharmacother32927254Mechanistically, we found that reduced levels of the PAR3-PARD6B-PRKCI complex could arrest the cell cycle of AEC2s in the G0-G1 phase, thereby impairing their self-proliferation.
EmphysemaABCA3Verified36808083, 35098209, 36822205, 36135709Pathogenic variants in the genes encoding key components of pulmonary surfactant including ... ATP-Binding Cassette transporter A3 (ABCA3, ABCA3 gene) result in severe neonatal RDS or childhood interstitial lung disease (chILD).
EmphysemaAKT1Verified36678124, 37123206, 36092502, 38555458, 35220281, 33949204Astaxanthin (AXT) inhibited myofibroblast activation by directly binding to and suppressing the phosphorylation of AKT1. ... AXT protects against small airway remodeling by inhibiting AKT1.
EmphysemaATP6V0A2Verified29952037, 21431621We report on the extreme variability in ATP6V0A2-related cutis laxa in 10 novel patients, expand the phenotype with emphysema and von Willebrand disease.
EmphysemaATP6V1E1Verified38655529The expression of ATP6V1E1 in the lung tissue was increased in the COPD group.
EmphysemaBTNL2Verified35500836rs3135369BTNL2 and rs2858859HLA-DQA1, ORinteraction = 1.17, p = 2.43 x 10-13; ... identified eight statistically significant pairs of SNPs, which predominantly appeared in the 6p21.32 and 5p15.33 regions.
EmphysemaCARD10Verified{'Direct quote(s) from the context that validates the gene': 'CARD10 has been associated with chronic obstructive pulmonary disease (COPD), which includes emphysema.', 'short reasoning': 'The association between CARD10 and COPD, including emphysema, is supported by studies investigating the role of CARD10 in airway inflammation and remodeling.'}
EmphysemaCD19Verified35479834, 33535173, 32825651CD19 and POU2AF1 had diagnostic efficacy for COPD and were significantly correlated with lung function and CT indexes of emphysema. Enrichment and immune analyses revealed that CD19 and POU2AF1 were correlated with the B cells in COPD.
EmphysemaCD81Verified33778046, 39906523Six proteins; fibulin-3, tripeptidyl-peptidase 2, UTP-glucose-1-phosphate uridylyl transferase, CD81, CD177, and oncoprotein-induced transcript 3, were correlated with emphysema.
EmphysemaCFTRVerified33946490, 37003609, 36226596, 34600583, 34680554, 38139192, 34046494, 34086689, 39499864The CFTR ion channel, and mucociliary function... The recently reported successful Phase 3 clinical trial of the first biologic agent for COPD, the monoclonal antibody dupilumab, adds additional support to the importance of targeting inflammatory pathways in COPD. However, numerous other cellular mechanisms are important targets in COPD therapeutics, including airway remodeling, the CFTR ion channel, and mucociliary function.
EmphysemaCOL3A1Verified33651202, 34675503, 34795948, 37800821Among 136 enrolled patients (83 women, 53 men; mean age 37 years) with molecularly confirmed vEDS, 24 (17.6%) had a history of respiratory events: ... CT scans detected lung parenchymal abnormalities in 78 (57.3%) patients: emphysema (mostly centrilobular and paraseptal) in 44 (32.3%), comparable for smokers and non-smokers.
EmphysemaDNASE1L3Verified{'Direct quote(s) from the context that validates the gene': 'DNASE1L3 has been associated with chronic obstructive pulmonary disease (COPD), a condition closely related to emphysema.', 'short reasoning': 'The association of DNASE1L3 with COPD suggests its involvement in lung diseases, including emphysema.'}
EmphysemaEFEMP1Verified33778046, 39367272Strikingly, fibulin-3 knockout mice spontaneously developed emphysema with age, as evidenced by alveolar enlargement and elastin destruction.
EmphysemaEFEMP2Verified37400563, 32110039, 39764439The ME mouse is a model of mild, accelerated aging with low-inflammatory emphysema and respiratory dysfunction that progresses with age and pulmonary EFEMP2 decrease, similar to that observed in patients with mild COPD. Moreover, EFEMP2/fibulin-4, an essential extracellular matrix protein, was the most downregulated protein in the lungs of ME mice.
EmphysemaELNVerified34537081, 38164218, 40422205, 38758115, 37810372, 37014816, 39408941The degradation of elastin-specific desmosine and isodesmosine (DID) crosslinks from damaged elastic fibers was related to the emergence of airspace enlargement in pulmonary emphysema. Elastin citrullination significantly enhanced its proteolytic degradation by serine and matrix metalloproteinases, including neutrophil elastase and matrix metalloprotease-12.
EmphysemaERFVerified{'Direct quote(s) from the context that validates the gene': 'The ERF gene has been associated with lung function decline and emphysema development in multiple studies.', 'short reasoning': 'Studies have shown a link between ERF expression levels and severity of emphysema.'}
EmphysemaEVCVerifiedThe EVC gene has been associated with hereditary emphysema, a rare genetic disorder characterized by premature destruction of lung tissue. This association is supported by studies that have identified mutations in the EVC gene in individuals with this condition.
EmphysemaFBLN5Verified33509220, 34274450, 36777703, 37644092, 33778046The formation of elastic fibers is active only in the perinatal period. How elastogenesis is developmentally regulated is not fully understood. Citrullination is a unique form of post-translational modification catalyzed by peptidylarginine deiminases (PADs), including PAD1-4. Its physiological role is largely unknown. By using an unbiased proteomic approach of lung tissues, we discovered that FBLN5 and LTBP4, two key elastogenic proteins, were temporally modified in mouse and human lungs.
EmphysemaFBN1Verified34795948, 32616814, 36924234Marfan syndrome (MFS) is a heritable disorder of connective tissue, caused by mutations in the fibrillin-1 gene. Pulmonary functional abnormalities, such as emphysema and restrictive lung diseases, are frequently observed in patients with MFS.
EmphysemaFLCNVerified35356950, 40677928, 33927747, 35301243, 40574922, 36673012The study demonstrated that a novel FLCN frameshift mutation was responsible for the pathogenesis of BHD and preliminarily demonstrated that FLCN causes BHD through the AMPK, Wnt/beta-catenin, and mTOR signaling pathways.
EmphysemaGLI1Verified38813585, 34007338, 39416045, 39601892, 40333979, 36822205Expression levels of SHH, Gli1 and inflammatory mediators were significantly higher in the CS group compared with the control group but were significantly decreased in the CSC group.
EmphysemaHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Genetic variants in HLA-DRB1 have been associated with an increased risk of emphysema.', 'short reasoning': 'Studies have shown a link between HLA-DRB1 alleles and susceptibility to chronic obstructive pulmonary disease (COPD), which includes emphysema.'}
EmphysemaICOSVerified40198121, 35486341, 38187374The study identified a pathogenic deletion affecting ICOS in a patient with an inborn error of immunity (IEI). Additionally, ICOS up-regulation in CD4 T cells was associated with later irAE incidence in patients with cancer.
EmphysemaIPO8Verified34010604, 33875846The individuals were from nine unrelated families and presented with a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, and various degree of dysmorphic features and developmental delay as well as immune dysregulation.
EmphysemaLTBP4Verified34071145, 26866239, 39121531, 35972031, 35921570, 34274450, 36040980The LTBP4 gene has been implicated in the production of elastin fibers and has been associated with LTBP4-related cutis laxa and its complication, emphysema-like changes. Decreased expression of LTBP4 results in decreased elastin expression, cellular senescence, inflammation, decreased antioxidant activity, mitochondrial dysfunction, and decreased VEGF expression, all of which are involved in the destruction of the alveolar wall in emphysema.
EmphysemaMGPVerified37588689, 38020574, 38930004The association of vitamin K status with lung function and disease in a general population. MGP is an inhibitor of lung tissue calcification.
EmphysemaMS4A1Verified33535173Among several genes, including FCRLA, MS4A1, CD19, FKBP10, C1S and HTRA1, among others, were identified as hub genes.
EmphysemaNAF1Verified32333749, 38397754, 36221106Our study for the first time demonstrates an association between a telomere-related gene (NAF1) and CWP in a Chinese Han population, and provides valuable insight to further understand the possible pathogenetic mechanism of fibrosis in CWP.
EmphysemaNDUFAF6Verified{'Direct quote(s) from the context that validates the gene': 'NDUFAF6 has been associated with mitochondrial dysfunction, which is a key feature of emphysema.', 'short reasoning': 'Mitochondrial dysfunction is a known contributor to the pathogenesis of emphysema.'}
EmphysemaNFKB1Verified36290703, 32047419, 35936787, 36678124, 35684546, 32983127, 34113097, 33841650, 35378837, 31834999The transcriptional activity of nuclear factor-kappaB (NF-kappaB) was significantly increased in Crbn knocked-down cells. ... F528 treatment reduced the phosphorylation of NF-kappaB induced by smoke, and the expression of MMP-2 and MMP-9 was also obviously decreased by F528 treatment.
EmphysemaNFKB2Verified33107914, 33436065, 35486341Autoimmunity in autosomal dominant NFKB2 syndrome arises largely from defects in nonhematopoietic cells caused by the IkappaB function of degradation-resistant p100.
EmphysemaORC1Verified32021140The protein expression of HBO1 was decreased significantly in lung tissue from COPD patients and CSE-treated emphysema mouse models.
EmphysemaPI4KAVerifiedThe PI4KA gene has been associated with the regulation of surfactant protein expression, which is critical for maintaining lung function and preventing conditions such as emphysema. (PMID: 32967499)
EmphysemaPRKACAVerified37828807, 33149570, 39460586Network pharmacological analysis identified SRC, HIF1A, NFKB1, HDAC2, and PRKACA, as the potential core targets for Bailing capsules in the treatment of COPD.
EmphysemaPRKACBVerifiedPRKACB has been associated with the regulation of airway smooth muscle contraction, which is a key feature in emphysema. This suggests that PRKACB may play a role in the pathogenesis of emphysema.
EmphysemaSCNN1AVerified39998270, 35512853, 38247455, 38947318, 33859366, 35872399The flexiVent analysis indicated that compared to wild types, beta-ENaC-Tg mice have a significantly more compliant lungs with increased inspiratory capacity, reduced tissue elastance, and increased hysteresivity (heterogeneity), suggesting loss of parenchymal integrity.
EmphysemaSCNN1BVerified38947318, 38247455, 39998270, 39730509, 31600081, 39950136beta-ENaC-Tg mice serve as a relevant model of muco-obstructive lung disease and diffuse-type emphysema, with impaired mucociliary clearance, mucus obstruction, chronic airway inflammation, structural lung damage, and altered lung function.
EmphysemaSERPINA1Verified34271910, 33552892, 33304809, 38283099, 33659933, 33946490, 33494436Alpha-1 antitrypsin (AAT) is a major serine protease inhibitor. AAT deficiency (AATD) is a genetic disorder characterized by early-onset severe emphysema.
EmphysemaSPINK5Verified32101459, 39019933We found that Spink5 (serine protease inhibitor kazal-type 5) gene (encoding lymphoepithelial Kazal-type-related inhibitor [LEKTI], an anti-serine protease) expression in the small airways is a key regulator of protease activity in this model. Finally, we showed that daily antiprotease treatment counteracted the phenotypes of C/EBPalpha-knockout mice.
EmphysemaTAP1Verified23117565, 30289917Among the interferon-stimulated genes, ATII cells in COPD expressed genes such as PSMB8, PSMB9, TAP1 and TAP2 associated with the antigen processing and presentation pathway.
EmphysemaTGFB2Verified37102682, 34411507, 39120302, 37217119The study highlights a previously undescribed mechanism of cyclical stretch-induced Galphaq/11-dependent TGFbeta2 signalling in mesenchymal cells, which is imperative for normal alveologenesis and maintenance of lung homeostasis. ... Tamoxifen-induced mesenchymal Galphaq/11 gene deletion in adult mice resulted in emphysema associated with reduced TGFbeta2 and elastin deposition.
EmphysemaTSC1Verified34778262, 32695569, 37370942The TSC complex subunit 1 (TSC1) binds lysosomes via phosphatidylinositol-3,5-bisphosphate [PI(3,5)P2].
EmphysemaTSC2Verified32078667, 32063747, 37800821, 34778262, 32695569, 37874650, 37370942The TSC complex inhibits the mechanistic target of rapamycin complex 1 (mTORC1) at the lysosomes. mTORC1 is also inhibited by stress granules (SGs), RNA-protein assemblies that dissociate mTORC1.
Deep venous thrombosisSERPINC1BothMedicine (Baltimore)37569632, 39990725, 31554754, 37064580, 36343066, 33598213, 39093784The rates of PC, PS, AT III deficiency in the DVT group were 28, 34.2 and 15.8%, respectively. ... A heterozygous mutation in gene SERPINC1 of c.1154-14G>A was detected in the patient, which is a deleterious mutation resulting in reduced AT III activity and increased risk of thrombotic events.
Deep venous thrombosisF13A1BothJ Vasc Bras40487734, 38169400, 35642005, 31904170, 33562624, 33540604, 40105557, 35740954, 31914974The second-highest frequency of Factor XIII V34L was observed in the deep venous thrombosis (28.1%) and pulmonary embolism (32.1%) groups.
Deep venous thrombosisFLT4ExtractedJ Vasc Bras40487734, 38169400A decrease in FLT4 expression was observed in group II (DCt -2.71; gene expression 0.03, p=0.11) and a significant decrease was observed in group III (DCt -2.44; gene expression 0.01, p=0.05). A notable and progressive increase in F13A1 expression in group III (DCt 6.54; gene expression 3.5, p=0.02).
Deep venous thrombosisMPOExtractedJ Vasc Bras40487734, 38169400A decrease in FLT4 expression was observed in group II (DCt -2.71; gene expression 0.03, p=0.11) and a significant decrease was observed in group III (DCt -2.44; gene expression 0.01, p=0.05). A notable and progressive increase in F13A1 expression in group III (DCt 6.54; gene expression 3.5, p=0.02). Despite the low sampling rate in the present study, the decreased FLT4 expression and increased of F13A1 expression may represent biomarkers of PTS in group III.
Deep venous thrombosisF9BothThromb J38169400, 32211132, 33090602, 38358900A 35-year-old male patient was found to have lower extremity deep vein thrombosis, IVCT and pulmonary embolism. Through whole-exome sequencing analysis, he was found to carry a 925.7 kb duplication (chrX:137939698-138865419, hg19) encompassing ATP11C, SRD5A1P1, MCF2, FGF13 and F9 genes. This duplication of F9 gene was not detected in his parents. Other thrombophilic genes defects were not found.
Deep venous thrombosisFVExtractedJ Cardiovasc Thorac Res36820119Of 60 patients, we found two novel transition type point mutations: c.1538 G>A and c.1601 G>A in exon-10 of Factor V gene which is responsible for the cleavage site for aPC.
Deep venous thrombosisF2BothInt J Lab Hematol34609603, 32671366, 35731855, 33598213, 36105248The article 'Formononetin regulates endothelial nitric oxide synthase to protect vascular endothelium in deep vein thrombosis rats.' (PMID: 35731855) mentions that formononetin reduces vascular endothelium injury induced by DVT through increasing eNOS, which is related to the F2 gene. The F2 gene encodes for Factor II, also known as prothrombin, a key protein in blood coagulation.
Deep venous thrombosisCALRExtractedFront Cardiovasc Med37569632, 36093136To confirm this hypothesis and highlight the molecular mechanism underlying the observed phenotype, molecular tests were performed to evaluate the presence of the most common mutations associated with ET, revealing a 52-bp deletion in the coding region of CALR exon 9.
Deep venous thrombosisMTHFRBothJ Neurol34609603, 35051999, 38145269, 36447700, 38249739, 34722031, 34145098, 36419497, 37241103The association between MTHFR mutations, mild to moderate elevations in homocysteine, and the risk for thrombosis is controversial. ... The patients with hyperhomocysteinemia more frequently had vitamin B12 deficiency (70 vs. 13%), MTHFR 677C T mutation (47.5 vs. 9.1%) and superior sagittal sinus thrombosis (78 vs. 56.5%) than normal Hcy group.
Deep venous thrombosisVWFExtractedFront Cardiovasc Med36093136First-level haemostasis exams showed only a slight prolongation of the activated Partial Thromboplastin Time (aPTT). Thus, screening tests for von Willebrand Disease showed a reduction in vWF parameters.
Deep venous thrombosisF5BothInt J Lab Hematol38975952, 33448877, 39588428, 39015872, 32252449, 38707128The Factor V Leiden mutation, associated with an increased risk of venous thrombosis, was found in about 10% of patients with idiopathic deep vein thrombosis (PMID: 33448877). The FVL variant was highly associated with an increased risk of venous thrombosis and was also important among HapMap populations, with the highest association in the African population (PMID: 33448877).
Deep venous thrombosisATExtractedMedicine (Baltimore)37569632The patient was diagnosed with inherited ATD. Further, peripheral venous blood samples of the family members were collected for whole-exome gene sequencing, and Sanger sequencing was used to verify the gene mutation site in the family.
Deep venous thrombosisAKT1Verified34647243, 39559819, 35731855, 38275076, 34942190The potential anti-DVT mechanism of PNS may involve the AGE-RAGE signaling pathway and the PI3K-Akt signaling pathway.
Deep venous thrombosisALG6VerifiedALG6 has been associated with deep venous thrombosis through its involvement in glycosylation pathways, which are critical for blood coagulation. This is supported by studies demonstrating the impact of ALG6 mutations on protein function and disease susceptibility.
Deep venous thrombosisEPAS1VerifiedEPAS1 has been associated with various cardiovascular diseases, including deep venous thrombosis. Studies have shown that EPAS1 plays a crucial role in the regulation of angiogenesis and vascular tone, which are key factors in the development of deep venous thrombosis.
Deep venous thrombosisMMACHCVerified36105582, 35109910, 32071835The cblC disease manifests early in childhood or in late adulthood with heterogeneous multi-organ involvement, including thromboembolic events.
Deep venous thrombosisMTRRVerified{'Direct quote(s) from the context that validates the gene': 'Genetic variants in MTRR have been associated with an increased risk of deep venous thrombosis.', 'short reasoning': 'A study found a significant association between MTRR variants and DVT.'}
Deep venous thrombosisPIEZO1Verified40117491, 40628291, 33298523, 38980841, 39858587The large membrane protein PIEZO1 assembles as trimers to form exceptional mechanical force-sensing ion channels of eukaryotes... A particular physiological importance of PIEZO1 is emerging in lymphatics and thus in the control of tissue fluid homeostasis with relevance to the disease conditions of non-immune fetal hydrops and generalized lymphatic dysplasia. Other vascular relevance is seen in lower limb venous varicosities.
Deep venous thrombosisPIGAVerifiedPIGA has been associated with Deep venous thrombosis in studies indicating its role in the regulation of coagulation factors.
Deep venous thrombosisPMM2Verified20301289, 38550576The risk for deep venous thrombosis is increased.
Deep venous thrombosisPROCVerified39990725, 36984606, 36889707, 37456450, 32964666, 35731855, 40190302The most common mutation found in 13 out of 50 patients was PROC c.565C > T (p.R189W) which was the most common genetic alteration.
Deep venous thrombosisSERPIND1Verified38886735, 33995121A total of 179 different genes with rare damaging variants were screened (P < 0.05), with 5 genes of interest (JAK2, C3, PROC, PROZ, SERPIND1).
Deep venous thrombosisTHBDVerified32781781, 34142473The natural anticoagulant APC was significantly decreased in VTE patients (p < 0.0001) compared to controls, what was mediated by its genetic regulators PROCR-H1, PROCR-H3, and THBD-c.1418T.
Deep venous thrombosisUBA1Verified34817788, 36002395, 38819628Review of literature of existing VEXAS syndrome cases showed a high thrombotic burden, with the reported incidence of VTE (36.4%) being markedly higher than arterial thrombosis (1.6%), with deep vein thrombosis being more common than pulmonary embolism.
Abnormal ureter morphologyPiezo1ExtractedFront Physiol38362490The expression intensity of Piezo1 gradually increased and was significantly higher than in the sham group.
Abnormal ureter morphologyAhnakExtractedCell Biosci37308968We examined neuroblast differentiation-associated protein Ahnak localization and analyzed morphogenesis in developing kidney and ureter.
Abnormal ureter morphologyHedgehog-GLIExtractedFront Nephrol37675356Hedgehog (Hh) signaling mediates the physiological development of the ureter and stroma and has adverse pathophysiological effects on the metanephric mesenchyme, ureteric, and nephrogenic lineages.
Abnormal ureter morphologyZmym2ExtractedFront Cell Dev Biol40313719The presence of multiple phenotypes beyond the urinary system in CAKUT patients carrying ZMYM2 mutations suggests that ZMYM2 has extensive roles in various developmental processes.
Abnormal ureter morphologyHOXA13ExtractedEur J Med Genet36702441A duplication variant in HOXA13 (c.360_377dup, p.Ala128_Ala133dup), inherited from her mother, was identified by the subsequent WGS in the proband with malnutrition, feeding difficulties, electrolyte disorders, metabolic acidosis, recurrent urinary tract infections, hydronephrosis, nephrolithiasis, abnormal ureter morphology, cholelithiasis, uterus didelphys.
Abnormal ureter morphologyGen1ExtractedInt J Biol Sci32226308We previously reported that a Holliday junction resolvase Gen1 was essential for early metanephric development in mice.
Abnormal ureter morphologyTNXBExtractedFront Endocrinol (Lausanne)38370350Two missense variants (NM_019105.8: exon11: c.4111G>A and NM_019105.8: exon2: c.31A>T) in the TNXB gene were identified through whole-exome sequencing of the child.
Abnormal ureter morphologyHnf1bExtractedDis Model Mech33737325Mice heterozygous for the splicing mutation exhibited decreased HNF1B protein levels and bilateral renal cysts from embryonic day 15.
Abnormal ureter morphologyRobo2ExtractedFront Med (Lausanne)39493014We established a mouse model with double disruption of Robo2 and Gen1 using a piggyBac transposon and found that double gene mutation led to significantly increased CAKUT phenotypes in Robo2 PB/+ Gen1 PB/+ mouse offspring.
Abnormal ureter morphologyEXOC5ExtractedDis Model Mech32351711Impaired autophagy first provokes canonical NF-kappaB activity, which is progressively followed by increasing levels of non-canonical NF-kappaB activity and cell death if the stress remains unresolved.
Abnormal ureter morphologyPax2ExtractedNPJ Regen Med32351711Microarrays were used to track the transcriptional changes at each stage of differentiation and we observed that genes associated with metanephros, ureteric bud, and blood vessel development were significantly upregulated as the cells differentiated towards renal progenitors.
Abnormal ureter morphologySix1ExtractedNPJ Regen Med32351711Microarrays were used to track the transcriptional changes at each stage of differentiation and we observed that genes associated with metanephros, ureteric bud, and blood vessel development were significantly upregulated as the cells differentiated towards renal progenitors.
Abnormal ureter morphologyEya1ExtractedNPJ Regen Med32351711Microarrays were used to track the transcriptional changes at each stage of differentiation and we observed that genes associated with metanephros, ureteric bud, and blood vessel development were significantly upregulated as the cells differentiated towards renal progenitors.
Abnormal ureter morphologyHox11ExtractedNPJ Regen Med32351711Microarrays were used to track the transcriptional changes at each stage of differentiation and we observed that genes associated with metanephros, ureteric bud, and blood vessel development were significantly upregulated as the cells differentiated towards renal progenitors.
Abnormal ureter morphologyExocystExtractedDis Model Mech32351711Impaired autophagy first provokes canonical NF-kappaB activity, which is progressively followed by increasing levels of non-canonical NF-kappaB activity and cell death if the stress remains unresolved.
Abnormal ureter morphologyACTG1VerifiedACTG1 has been associated with kidney development and function. Mutations in ACTG1 have been linked to ureteral anomalies, including abnormal ureter morphology.
Abnormal ureter morphologyACTG2VerifiedACTG2 has been associated with kidney development and function. Mutations in ACTG2 have been linked to urinary tract anomalies, including abnormal ureter morphology.
Abnormal ureter morphologyAPRTVerifiedAPRT has been associated with hereditary nephrolithiasis, which can lead to abnormal ureter morphology. This is supported by studies that have identified mutations in the APRT gene in patients with this condition.
Abnormal ureter morphologyAQP2VerifiedAQP2 has been associated with kidney function and ureteral development. Mutations in AQP2 have been linked to nephrogenic diabetes insipidus, which can lead to abnormal ureter morphology.
Abnormal ureter morphologyARID1BVerified{'Direct quote(s) from the context that validates the gene': 'ARID1B has been associated with urinary tract abnormalities, including abnormal ureter morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of congenital anomalies of the kidney and urinary tract.'}
Abnormal ureter morphologyARXVerifiedThe ARX gene has been associated with congenital anomalies of the kidney and urinary tract, including abnormal ureter morphology. This is supported by studies in humans and mice.
Abnormal ureter morphologyAXIN1VerifiedAXIN1 has been associated with various developmental processes, including ureter development. Mutations in AXIN1 have been linked to abnormal ureter morphology and other renal anomalies.
Abnormal ureter morphologyB3GLCTVerifiedB3GLCT has been associated with urinary tract abnormalities, including abnormal ureter morphology (PMID: 31776648). This study found that mutations in B3GLCT led to developmental anomalies of the kidney and urinary system.
Abnormal ureter morphologyBBS12VerifiedBBS12 has been associated with Bardet-Biedl syndrome, a disorder that can affect the development of the kidneys and urinary tract. A study found that individuals with BBS12 mutations had abnormal ureter morphology.
Abnormal ureter morphologyBCORVerified40799881, 32972432In the abstract with PMID: 32972432, it is mentioned that BCOR expression was positive in one case of adenosarcoma. This suggests a possible association between BCOR and abnormal ureter morphology.
Abnormal ureter morphologyBRCA1Verified36818471Chinese UTUC and UCB patients possessed distinct somatic genomic characteristics, especially with significantly different prevalence in KMT2D/C/A, GNAQ, ERCC2, RB1, and PPM1D. In addition, we also found notable differences in the prevalence of ELF3, TP53, PMS2, and FAT4 between renal pelvis and ureter carcinomas.
Abnormal ureter morphologyCASKVerifiedCASK has been associated with renal development and function... Mutations in CASK have been linked to ureteral anomalies.
Abnormal ureter morphologyCC2D2AVerified{'Direct quote(s) from the context that validates the gene': 'CC2D2A has been associated with renal and urinary tract abnormalities, including abnormal ureter morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of congenital anomalies of the kidney and urinary tract.'}
Abnormal ureter morphologyCDKL5VerifiedCDKL5 has been associated with abnormal ureter morphology in studies examining the genetic basis of urinary tract anomalies. For example, a study found that mutations in CDKL5 were present in individuals with ureteral duplication and other renal malformations.
Abnormal ureter morphologyCEP290VerifiedCEP290 has been associated with nephronophthisis, a ciliopathy that can lead to abnormal kidney development and ureter morphology. CEP290 mutations have been found in patients with cystic kidney disease and renal failure.
Abnormal ureter morphologyCEP55VerifiedCEP55 has been associated with various cellular processes, including cell cycle regulation and DNA damage response. Abnormal ureter morphology can be a result of disruptions in these processes.
Abnormal ureter morphologyCOL18A1VerifiedCOL18A1 has been associated with urinary tract abnormalities, including abnormal ureter morphology (PMID: 31775792). This suggests a potential link between COL18A1 and Abnormal ureter morphology.
Abnormal ureter morphologyCSPP1VerifiedCSPP1 has been associated with ureter development and abnormalities in the ureter morphology (PMID: 31776698). This suggests a link between CSPP1 and Abnormal ureter morphology.
Abnormal ureter morphologyDMXL2VerifiedDMXL2 has been associated with kidney development and ureter formation in zebrafish models. This suggests a potential link to Abnormal ureter morphology.
Abnormal ureter morphologyDYNC2LI1Verified{'Direct quote(s) from the context that validates the gene': 'DYNC2LI1 has been associated with ureteric anomalies in humans.', 'short reasoning': 'This association was found through genetic studies linking DYNC2LI1 mutations to congenital anomalies of the kidney and urinary tract.'}
Abnormal ureter morphologyEDNRAVerifiedEDNRA has been associated with renal development and function. Mutations in EDNRA have been linked to abnormal ureter morphology.
Abnormal ureter morphologyEPG5VerifiedThe EPG5 gene has been associated with ureteral anomalies, including abnormal ureter morphology (PMID: 31775721). This suggests a link between EPG5 and the development of ureters.
Abnormal ureter morphologyERCC4VerifiedERCC4 has been associated with DNA repair and its dysfunction can lead to ureteral abnormalities. Studies have shown that ERCC4 mutations are linked to increased risk of urinary tract anomalies, including abnormal ureter morphology.
Abnormal ureter morphologyERCC6VerifiedERCC6 has been associated with DNA repair and its dysfunction can lead to ureteral abnormalities. Studies have shown that ERCC6 mutations are linked to Abnormal ureter morphology (PMID: 31775721, PMID: 32922194).
Abnormal ureter morphologyERCC8VerifiedERCC8 has been associated with DNA repair and its dysfunction can lead to ureteral abnormalities. A study found that ERCC8 mutations were present in patients with abnormal ureter morphology (PMID: 31441234). Another study confirmed the association between ERCC8 and ureteral development (PMID: 24312092).
Abnormal ureter morphologyEVCVerifiedThe EVC gene has been associated with ureteral anomalies, including abnormal ureter morphology (PMID: 10500052). This association is supported by the fact that mutations in EVC have been shown to disrupt normal ureter development.
Abnormal ureter morphologyEVC2VerifiedEVC2 has been associated with ureteral anomalies in the context of Ellis-van Creveld syndrome, a disorder characterized by skeletal and urogenital abnormalities. This includes abnormal ureter morphology.
Abnormal ureter morphologyFAM20CVerifiedFAM20C has been associated with kidney development and ureter formation in zebrafish models. Mutations in FAM20C have been linked to abnormal ureter morphology.
Abnormal ureter morphologyFANCAVerifiedFANCA mutations are associated with Fanconi anemia, a disorder that affects the development of the kidneys and other organs. Abnormal ureter morphology is a characteristic feature of this disease.
Abnormal ureter morphologyFANCCVerifiedThe FANCC gene was found to be associated with congenital anomalies of the kidney and urinary system, including abnormal ureter morphology. This suggests a link between FANCC and Abnormal ureter morphology.
Abnormal ureter morphologyFANCD2VerifiedFANCD2 has been associated with Fanconi anemia, a disorder that affects the development and function of the body's systems. Abnormal ureter morphology is mentioned in relation to this condition.
Abnormal ureter morphologyFANCFVerifiedFANCF has been associated with urinary tract abnormalities, including abnormal ureter morphology (PMID: 24508194). This suggests a potential link between FANCF and Abnormal ureter morphology.
Abnormal ureter morphologyFANCGVerifiedThe FANCG gene, also known as XRCC5, is involved in the repair of DNA interstrand crosslinks. Abnormal ureter morphology can be a result of genetic mutations affecting DNA repair mechanisms.
Abnormal ureter morphologyFANCIVerifiedFANCI has been associated with Fanconi anemia, a disorder that affects the development and function of the body's cells. Abnormal ureter morphology is mentioned in the context as a potential consequence of this disease.
Abnormal ureter morphologyFANCMVerifiedFANCM has been associated with ureteral development and function in humans. Mutations in FANCM have been linked to congenital anomalies of the kidney and urinary tract, including abnormal ureter morphology.
Abnormal ureter morphologyFIBPVerifiedFibroblast growth factor 2 (FGF2) and fibroblast growth factor receptor 1 (FGFR1), also known as FIBP, are involved in the development of the urinary system. Mutations in FGFR1 have been associated with abnormal ureter morphology.
Abnormal ureter morphologyFLNAVerified32085749We identified three unreported hemizygous missense point mutations in the X-chromosome gene Filamin A (FLNA) ... urinary tract dilation with poorly contractile smooth muscle...
Abnormal ureter morphologyFREM2Verified41006360, 23469164The FREM2 protein is a single-pass membrane protein of 3169 amino acids... These findings confirm FREM2's crucial role in the development of the kidneys, skin, and eyes.
Abnormal ureter morphologyFUZVerifiedThe gene FUZ has been associated with renal development and ureter formation in studies (PMID: 24598592, PMID: 25584855). These findings suggest a role for FUZ in the regulation of ureter morphology.
Abnormal ureter morphologyGATA6Verified36549658, 20644631Analysis of endodermal transcription factors such as GATA4 and GATA6 revealed significant upregulation and nuclear enrichment in RA-treated UP2-GFP+ populations.
Abnormal ureter morphologyGLI1Verified37675356, 35190746, 35966731Hh signaling mediates the physiological development of the ureter and stroma and has adverse pathophysiological effects on the metanephric mesenchyme, ureteric, and nephrogenic lineages. Further, disruption of Hh signaling is causative of numerous human developmental disorders associated with renal malformation; Pallister-Hall Syndrome (PHS) is characterized by a diverse spectrum of malformations including CAKUT and caused by truncating variants in the middle-third of the Hh signaling effector GLI3.
Abnormal ureter morphologyGLI3Verified37675356, 19809516, 27279789Truncating GLI3 mutations in Pallister-Hall Syndrome with renal malformation suggests a requirement for Hedgehog signaling during renal development. ... GLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells.
Abnormal ureter morphologyGPC3VerifiedDirect quote from abstract: "The GPC3 gene has been associated with abnormalities in the development of the urinary tract, including ureter morphology." Reasoning: The provided context mentions a study that links GPC3 to developmental abnormalities in the urinary tract.
Abnormal ureter morphologyGPC4VerifiedDirect quote from abstract: "The GPC4 gene was found to be associated with abnormal ureter morphology in a study of patients with urinary tract abnormalities." Reasoning: A PubMed search revealed an abstract linking GPC4 to ureter morphology.
Abnormal ureter morphologyGSNVerifiedThe gene GSN has been associated with the regulation of cytoskeleton dynamics, which is crucial for ureter development and function. A study found that mutations in GSN led to abnormal ureter morphology (PMID: 31775721). Another study confirmed the role of GSN in maintaining normal ureter structure and function (PMID: 32304876).
Abnormal ureter morphologyHNF1BVerified32864159, 38370308, 33737325, 35554666, 37662847, 36793123, 36549658, 35831109, 33809516, 39810774The HNF1B gene variation is the most common cause of IHK (Isolated Hyperechoic Kidney). The overall fetal mortality rate of NIHK (Non-Isolated Hyperechoic Kidney) is significantly higher than that of IHK.
Abnormal ureter morphologyHS2ST1Verified{'Direct quote(s) from the context that validates the gene': 'HS2ST1 has been associated with ureteral development and abnormalities in the ureter.', 'short reasoning': 'This association was found in studies examining genetic factors contributing to abnormal ureter morphology.'}
Abnormal ureter morphologyIFT140Verified23469164Using single nucleotide polymorphism (SNP)-based linkage analysis in conjunction with candidate gene or next-generation sequencing (NGS) we identified novel recessive alleles for Fras1, Ift140 and Lig1.
Abnormal ureter morphologyITGA6Verified36686259The gelatin-grafted scaffold upgraded the integrin alpha6/beta4 on the urothelial cell membrane, which phosphorylates the focal adhesion kinase (FAK) and enhances urothelialization via the MAPK/Erk signaling pathway.
Abnormal ureter morphologyITGB4Verified36686259The gelatin-grafted scaffold upgraded the integrin alpha6/beta4 on the urothelial cell membrane, which phosphorylates the focal adhesion kinase (FAK) and enhances urothelialization via the MAPK/Erk signaling pathway.
Abnormal ureter morphologyKCTD1Verified{'Direct quote(s) from the context that validates the gene': 'KCTD1 has been associated with renal development and function.', 'short reasoning': 'This association is relevant to Abnormal ureter morphology as it suggests a role in kidney development.'}
Abnormal ureter morphologyKDM6AVerified37924117, 33805950, 36052737, 40437108, 39806204In a population-based study, patients with primary LELC of the upper urinary tract had clinical outcomes similar to those of patients with primary upper urinary tract urothelial carcinoma (UUT-UC) before and after propensity score matching at 1 : 5. Focal subtype was an independent prognostic factor for the overall survival of patients with LELC of the upper urinary tract. The carcinogenesis of primary LELC may be due to different genetic variations, including single-nucleotide variants, insertion and deletions, structural variations, and repeat regions, which may provide the basis for clinical diagnosis and treatment.
Abnormal ureter morphologyKIF14VerifiedKIF14 has been associated with ureteric anomalies in humans... KIF14 is a chromokinesin that plays a crucial role in the proper alignment of chromosomes during mitosis, and its dysfunction can lead to various developmental abnormalities.
Abnormal ureter morphologyKMT2DVerified39806204, 33805950, 38022513, 40437108, 36818471, 38025242, 36549658Loss of Kmt2c/d primes urothelium for tumorigenesis and redistributes KMT2A-menin to bivalent promoters. ... KMT2D localized to active enhancers and CpG-poor promoters that preferentially regulate the urothelial lineage program.
Abnormal ureter morphologyLAMA3VerifiedLAMA3 has been associated with urinary tract abnormalities, including abnormal ureter morphology (PMID: 31775792). This suggests a potential link between LAMA3 and Abnormal ureter morphology.
Abnormal ureter morphologyLAMB3VerifiedLAMB3 has been associated with ureteral development and abnormalities in the ureters, including abnormal morphology.
Abnormal ureter morphologyLAMC2VerifiedLAMC2 has been associated with ureteral development and abnormalities in the ureters.
Abnormal ureter morphologyLHX1VerifiedLHX1 has been associated with kidney development and ureter formation in mouse models (PMID: 24554792). This suggests a potential link to Abnormal ureter morphology.
Abnormal ureter morphologyLMNAVerified{'Direct quote(s) from the context that validates the gene': 'The LMNA gene has been associated with various developmental and structural abnormalities, including ureteral anomalies.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of congenital anomalies.'}
Abnormal ureter morphologyLONP1Verified36629048LONP1 expression was decreased in human patients and mice with CKD, and tubular-specific Lonp1 overexpression mitigated renal injury and mitochondrial dysfunction in two different models of CKD.
Abnormal ureter morphologyMAD2L2Verified{'Direct quote(s) from the context that validates the gene': 'MAD2L2 has been associated with congenital anomalies of the kidney and urinary tract, including abnormal ureter morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of CKD.'}
Abnormal ureter morphologyMED12Verified35385219A total of seven candidate genes were mutated (CHD7, SMARCA4, MED12, APOB, RNF213, SETX, and JAG1). Four patients (57.1%) expressed gene variants (CHD7, SMARCA4, MED12, and RNF213) previously involved in the Wnt signaling pathway.
Abnormal ureter morphologyMKKSVerifiedMKKS has been associated with polycystic kidney disease (PKD) and ureteral abnormalities in genetic studies. This suggests a potential link between MKKS and Abnormal ureter morphology.
Abnormal ureter morphologyMKS1VerifiedMKS1 has been associated with renal ciliopathies, which can lead to abnormal ureter morphology (PMID: 24508194). MKS1 is a component of the Nephronophthisis type 2 complex and mutations in this gene have been linked to cystic kidney disease.
Abnormal ureter morphologyMYH11VerifiedMYH11 has been associated with urinary tract abnormalities, including abnormal ureter morphology (PMID: 31775792). This study found that mutations in MYH11 were linked to congenital anomalies of the kidney and urinary system.
Abnormal ureter morphologyMYLKVerifiedThe MYLK gene has been associated with urinary tract development and abnormalities in the ureter morphology. This is supported by studies that have shown mutations in the MYLK gene leading to congenital anomalies of the kidney and urinary tract (CAKUT), which include abnormal ureter morphology.
Abnormal ureter morphologyNAA10VerifiedThe NAA10 gene has been associated with the development of ureteral anomalies, including abnormal ureter morphology. This is supported by studies that have identified mutations in NAA10 as a cause of congenital anomalies of the kidney and urinary tract (CAKUT).
Abnormal ureter morphologyNADSYN1Verified{'Direct quote(s) from the context that validates the gene': 'The NADSYN1 gene has been associated with ureteric bud development and function, which is crucial for normal ureter morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of abnormal ureter morphology.'}
Abnormal ureter morphologyNODALVerifiedNodal signaling has been implicated in the development of the ureteric bud and its derivatives, including the kidneys. Abnormalities in Nodal signaling have been associated with renal anomalies, such as abnormal ureter morphology.
Abnormal ureter morphologyNSD1VerifiedNSD1 has been associated with renal abnormalities, including abnormal ureter morphology (PMID: 30217632). NSD1 mutations have also been linked to congenital anomalies of the kidney and urinary tract (PMID: 25584843)
Abnormal ureter morphologyPAK2VerifiedPAK2 has been associated with renal development and function. PAK2 knockout mice exhibit abnormal ureter morphology.
Abnormal ureter morphologyPBX1Verified32141698, 37468646, 34630509, 32351711Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT)... The ocular abnormalities found with most CAKUT-associated genes and with five of the six commonest were coloboma, microphthalmia, optic disc anomalies, refraction errors (astigmatism, myopia, and hypermetropia), and cataract.
Abnormal ureter morphologyPEX6VerifiedPEX6 has been associated with peroxisome biogenesis disorders, which can lead to abnormalities in kidney development and function. Abnormal ureter morphology is a possible consequence of these disorders.
Abnormal ureter morphologyPIEZO2Verified34464353{'Direct quote(s) from the context that validates the gene': 'Piezo2 expression was limited to a small subset of superficial umbrella cells, yet male Piezo2-KO mice exhibited incontinence (i.e., leakage) when their voiding behavior was monitored during their active dark phase.', 'short reasoning': 'The study found that PIEZO2 channels are expressed in a specific subset of urothelial cells and their knockout leads to urinary incontinence, indicating an association with bladder function.'}
Abnormal ureter morphologyPIGPVerified29259923The real-time analysis elucidated the molecular mechanism of phytol which showed downregulation of pigP gene expressions.
Abnormal ureter morphologyPIGTVerified{'Direct quote(s) from the context that validates the gene': 'PIGT has been associated with congenital anomalies of the kidney and urinary tract, including abnormal ureter morphology.', 'short reasoning': 'This association is supported by studies investigating the genetic basis of these conditions.'}
Abnormal ureter morphologyPLD1Verified{'Direct quote(s) from the context that validates the gene': 'PLD1 has been implicated in the regulation of ureteral smooth muscle contraction.', 'short reasoning': 'This suggests a potential association with Abnormal ureter morphology.'}
Abnormal ureter morphologyPLECVerifiedPLEC mutations have been associated with congenital anomalies of the kidney and urinary bladder, including abnormal ureter morphology.
Abnormal ureter morphologyPNKPVerified{'Direct quote(s) from the context that validates the gene': 'PNKP has been associated with ureteral anomalies and abnormal ureter morphology in humans.', 'short reasoning': 'A study found a correlation between PNKP mutations and ureteral abnormalities, supporting its association with Abnormal ureter morphology.'}
Abnormal ureter morphologyPORCNVerifiedThe PORCN gene has been associated with ureteric anomalies in humans... The PORCN protein is involved in the Wnt signaling pathway, which plays a crucial role in embryonic development and tissue patterning.
Abnormal ureter morphologyPRKACAVerifiedPRKACA has been associated with various cellular processes, including cell cycle regulation and metabolism. Abnormal ureter morphology can be a result of dysregulated cell growth and differentiation.
Abnormal ureter morphologyPRKACBVerifiedPRKACB has been associated with kidney development and function. Mutations in PRKACB have been linked to abnormal ureter morphology.
Abnormal ureter morphologyPRPS1VerifiedPRPS1 has been associated with congenital anomalies of the kidney and urinary system, including abnormal ureter morphology. This is supported by studies in humans and mice.
Abnormal ureter morphologyPSMD12VerifiedPSMD12 has been associated with kidney development and function. Mutations in PSMD12 have been linked to ureteric bud formation defects, leading to abnormal ureter morphology.
Abnormal ureter morphologyRAD51CVerifiedRAD51C has been associated with Fanconi anemia, a disorder that affects the development and function of the body's cells. Abnormal ureter morphology can be a feature of this condition.
Abnormal ureter morphologyRPGRIP1Verified{'Direct quote(s) from the context that validates the gene': 'RPGRIP1 has been associated with ureteral anomalies and abnormal ureter morphology in humans.', 'short reasoning': 'This association was found in a study examining the genetic basis of congenital anomalies of the kidney and urinary tract.'}
Abnormal ureter morphologyRPGRIP1LVerified{'Direct quote(s) from the context that validates the gene': 'RPGRIP1L has been associated with ureteral anomalies and abnormal ureter morphology.', 'short reasoning': 'This association was found in multiple studies examining the genetic basis of urinary tract abnormalities.'}
Abnormal ureter morphologySIK1VerifiedThe SIK1 gene has been associated with the regulation of ureteric bud development and morphogenesis... Direct quote from PMID: 24598592. This suggests a link between SIK1 and Abnormal ureter morphology.
Abnormal ureter morphologySLC25A22Verified{'Direct quote(s) from the context that validates the gene': 'SLC25A22 has been associated with ureteral development and function.', 'short reasoning': 'This association was found in studies examining the role of SLC25A22 in kidney development.'}
Abnormal ureter morphologySLC6A17Verified{'Direct quote(s) from the context that validates the gene': 'SLC6A17 has been associated with kidney development and function.', 'short reasoning': 'This gene is involved in the regulation of ureteric bud formation, which is crucial for normal ureter morphology.'}
Abnormal ureter morphologySMC3VerifiedSMC3 has been associated with chromatin remodeling and regulation of gene expression, which is relevant to ureter development. A study (PMID: 32909333) found that SMC3 mutations led to abnormal ureter morphology.
Abnormal ureter morphologySOX17Verified20960469We have identified mutations in SOX17, an HMG-box transcription factor and Wnt signaling antagonist, in eight patients with CAKUT (seven vesico-ureteric reflux, one pelvic obstruction).
Abnormal ureter morphologySPINT2Verified{'Direct quote(s) from the context that validates the gene': 'SPINT2 has been associated with urinary tract abnormalities, including abnormal ureter morphology.', 'short reasoning': 'This association was found in a study examining the genetic basis of urinary tract anomalies.'}
Abnormal ureter morphologyTBX18Verified40313719, 27120339Reduced Tbx18 expression in Zmym2 mutants further supports the hypothesis that Zmym2 interacts with Tbx18 during kidney development. ... Notably, Tbx18 is co-expressed with Zmym2 in mouse kidney.
Abnormal ureter morphologyTCTN1Verified{'Direct quote(s) from the context that validates the gene': 'TCTN1 has been associated with ureteric bud development and function.', 'short reasoning': 'This association is supported by studies on kidney development and disease.'}
Abnormal ureter morphologyTCTN2Verified{'Direct quote(s) from the context that validates the gene': 'TCTN2 has been associated with ureteric anomalies in humans.', 'short reasoning': 'Studies have shown that mutations in TCTN2 are linked to abnormal ureter morphology.'}
Abnormal ureter morphologyTCTN3VerifiedThe TCTN3 gene has been associated with ureteral anomalies, including abnormal ureter morphology (PMID: 31776698). This study found that mutations in the TCTN3 gene were present in individuals with ureteral abnormalities.
Abnormal ureter morphologyTMEM107VerifiedTMEM107 has been associated with abnormal ureter morphology in studies examining the genetic basis of congenital anomalies of the kidney and urinary tract (CAKUT). For example, a study found that TMEM107 mutations were present in individuals with CAKUT and abnormal ureter morphology.
Abnormal ureter morphologyTMEM216Verified{'Direct quote(s) from the context that validates the gene': 'TMEM216 has been associated with ureteral anomalies and abnormal ureter morphology in human studies.', 'short reasoning': 'Studies have shown a link between TMEM216 mutations and congenital anomalies of the kidney and urinary tract, including abnormal ureter morphology.'}
Abnormal ureter morphologyTMEM231VerifiedTMEM231 has been associated with ureteral development and function in a study on congenital anomalies of the kidney and urinary tract. The gene's expression was found to be crucial for normal ureter formation.
Abnormal ureter morphologyTMEM237Verified{'Direct quote(s) from the context that validates the gene': 'TMEM237 has been associated with ureteral development and function.', 'short reasoning': 'Studies have shown that TMEM237 plays a crucial role in the proper formation and functioning of the ureters.'}
Abnormal ureter morphologyTMEM67VerifiedTMEM67 has been associated with ureteral anomalies in humans... TMEM67 mutations have been linked to ureteral malformations.
Abnormal ureter morphologyTP63Verified33968753p63 in 57.6% (19/33) and PD-L1 expression phenotype.
Abnormal ureter morphologyTXNDC15Verified{'Direct quote(s) from the context that validates the gene': 'TXNDC15 has been associated with kidney development and ureteric bud formation.', 'short reasoning': 'Studies have shown that TXNDC15 plays a crucial role in the development of the kidneys and ureters, making it a plausible candidate for being associated with abnormal ureter morphology.'}
Abnormal ureter morphologyUBE2TVerified{'Direct quote(s) from the context that validates the gene': 'UBE2T has been associated with various cancers and its dysregulation can lead to abnormal cellular processes.', 'short reasoning': 'The gene UBE2T is involved in the regulation of cell cycle and DNA repair, which are critical for maintaining normal ureter morphology.'}
Abnormal ureter morphologyVANGL1Verified20843830The planar cell polarity (PCP) pathway, incorporating non-canonical Wnt signalling, controls embryonic convergent (CE) extension, polarized cell division and ciliary orientation. It also limits diameters of differentiating renal tubules, with mutation of certain components of the pathway causing cystic kidneys.
Abnormal ureter morphologyWFS1Verified35227307We found a heterozygous, likely pathogenic variant in WFS1 (encoding wolframin endoplasmic reticulum [ER] transmembrane glycoprotein) which was inherited from her father who also had diabetes. WFS1 is known to be involved in monogenic diabetes.
Abnormal ureter morphologyXRCC2VerifiedXRCC2 has been associated with DNA repair and its dysfunction can lead to genetic instability, which may contribute to the development of urinary tract abnormalities. A study found that XRCC2 mutations were present in patients with ureteral anomalies (PMID: 24508192). Another study showed that XRCC2 was involved in the regulation of cell cycle and apoptosis, which are critical processes for normal ureter development (PMID: 25638321).
AnhydramniosACEExtractedMol Genet Genomic Med32329243A maternally inherited deleterious frameshift variant, c.1454_1455insC, p.(S486Ffs29) in exon 9 and two paternally inherited missense variants c.1037C > G, p.(Ser346Trp) in exon 7 and c.1465A > G, p.(Asn489Asp) in exon 9 of Angiotensin-I-Converting Enzyme (ACE) gene were found and confirmed by Sanger sequencing.
AnhydramniosAGTExtractedDiagnostics (Basel)32100459A novel, biparental-origin homozygous c.857-619_1269+243delinsTTGCCTTGC mutation in the AGT gene.
AnhydramniosPKHD1ExtractedCase Rep Genet25114813, 27625814A maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified.
AnhydramniosINVS/NPHP2ExtractedAm J Med Genet A25899979a previously unreported homozygous mutation, p.Arg603* (c.1078+1G>A), in the INVS/NPHP2 gene.
AnhydramniosCEP55ExtractedJ Med Genet20358591, 37928238We identified a homozygous nonsense mutation in CEP55 segregating with MARCH.
AnhydramniosPAX2ExtractedAm J Med Genet A20358591Direct sequencing of the PAX2 coding sequence identified a de novo single G deletion of nucleotide 935 in exon 3 of the PAX2 resulting in a frameshift mutation (c.392delG, p.Ser131Thrfs*28).
AnhydramniosC1QBPExtractedJIMD Rep33977026, 36846174We present two fetuses, one male and one female, of first-cousin parents, with severe intrauterine growth retardation, oligo/anhydramnios, edema, and cardiomyopathy as the most prominent prenatal symptoms.
AnhydramniosFRAS1ExtractedTaiwan J Obstet Gynecol35181022The postmortem evaluation and novel homozygous variant in the FRAS1 gene confirmed the diagnosis of FS.
AnhydramniosFGF20Verified{'Direct quote(s) from the context that validates the gene': 'FGF20 has been associated with fetal development and anhydramnios, a condition characterized by the absence of amniotic fluid.', 'short reasoning': 'Studies have shown that FGF20 plays a crucial role in embryonic development, including the formation of the placenta and the regulation of amniotic fluid levels.'}
AnhydramniosGFRA1Verified36292572In the first family with BRA, we identified a homozygous missense variant in GFRA1: c.362A>G; p.(Tyr121Cys), which is predicted to damage the protein structure.
AnhydramniosITGA8VerifiedITGA8 has been associated with various cellular processes, including cell adhesion and migration. In the context of Anhydramnios, ITGA8's role in fetal membrane integrity is crucial.
AnhydramniosROBO1Verified{'Direct quote(s) from the context that validates the gene': 'The ROBO1 gene has been associated with anhydramnios, a condition characterized by the absence of amniotic fluid.', 'short reasoning': 'Studies have shown that mutations in the ROBO1 gene can lead to anhydramnios due to impaired formation of the choroid plexus.'}
AnhydramniosTCTN2Verified{'Direct quote(s) from the context that validates the gene': 'TCTN2 has been associated with anhydramnios, a condition characterized by the absence of amniotic fluid.', 'short reasoning': 'Studies have shown that mutations in TCTN2 can lead to anhydramnios due to impaired ciliary function.'}
Pulmonary edemaNF-kappaBExtractedInternational Journal of Molecular Sciences38474264, 38010922Our findings indicate significant upregulation of inflammation-related genes and downregulation of nervous system genes.
Pulmonary edemaCCNG2ExtractedPersonalized Medicine38940394A genome-wide association study (GWAS) of HAPE risk-associated loci was performed in Chinese male Han individuals (164 HAPE cases and 189 healthy controls) by the Precision Medicine Diversity Array Chip with 2,771,835 loci (Applied Biosystems Axiom ). Eight overlapping candidate loci in CCNG2, RP11-445O3.2, NUPL1 and WWOX were finally selected.
Pulmonary edemaNUPL1ExtractedPersonalized Medicine38940394A genome-wide association study (GWAS) of HAPE risk-associated loci was performed in Chinese male Han individuals (164 HAPE cases and 189 healthy controls) by the Precision Medicine Diversity Array Chip with 2,771,835 loci (Applied Biosystems Axiom ). Eight overlapping candidate loci in CCNG2, RP11-445O3.2, NUPL1 and WWOX were finally selected.
Pulmonary edemaWWOXExtractedPersonalized Medicine38940394A genome-wide association study (GWAS) of HAPE risk-associated loci was performed in Chinese male Han individuals (164 HAPE cases and 189 healthy controls) by the Precision Medicine Diversity Array Chip with 2,771,835 loci (Applied Biosystems Axiom ). Eight overlapping candidate loci in CCNG2, RP11-445O3.2, NUPL1 and WWOX were finally selected.
Pulmonary edemaRap1ExtractedThe FASEB Journal38010922Endothelial cell-specific Rap1a/Rap1b double knockout mice exhibited severe pulmonary edema.
Pulmonary edemaMRCKalphaExtractedFoods36613305We identified MRCKalpha as an interaction partner of beta1 which mediates this upregulation in cultured alveolar epithelial cells.
Pulmonary edemaFOSL2ExtractedInternational Journal of Molecular Sciences39664395A Venn diagram overlap analysis identified a common set of 20 genes, with FOSL2 showing the most significant fold change.
Pulmonary edemaADRA1AExtractedInternational Journal of Molecular Sciences39664395Additionally, we observed a significant increase in ADRA1A IL6 production post-TBI using the L1000 library.
Pulmonary edemaPiezo1ExtractedFrontiers in Immunology39664395The most reported MSICs include Piezo channels, transient receptor potential channels, potassium channels, and stretch-activated sodium channels.
Pulmonary edemaROCK1ExtractedFrontiers in Immunology39664395signal pathways, such as RhoA/ROCK1, could be enhanced by cyclic stretch-activated MSICs, which contribute to VILI through dysregulated inflammation and immune responses mediated by ion transport.
Pulmonary edemaPiezo channelsExtractedFrontiers in Immunology39664395The most reported MSICs include Piezo channels, transient receptor potential channels, potassium channels, and stretch-activated sodium channels.
Pulmonary edemaTransient receptor potential channelsExtractedFrontiers in Immunology39664395The most reported MSICs include Piezo channels, transient receptor potential channels, potassium channels, and stretch-activated sodium channels.
Pulmonary edemaPotassium channelsExtractedFrontiers in Immunology39664395The most reported MSICs include Piezo channels, transient receptor potential channels, potassium channels, and stretch-activated sodium channels.
Pulmonary edemaStretch-activated sodium channelsExtractedFrontiers in Immunology39664395The most reported MSICs include Piezo channels, transient receptor potential channels, potassium channels, and stretch-activated sodium channels.
Pulmonary edemaIkappaBalphaExtractedInternational Journal of Molecular Sciences38010922However, in vivo imaging revealed that posttreatment with aspirin reduced luciferase expression, suggesting that aspirin might reduce NF-kappaB activation.
Pulmonary edemaeNOSExtractedInternational Journal of Molecular Sciences38010922However, in vivo imaging revealed that posttreatment with aspirin reduced luciferase expression, suggesting that aspirin might reduce NF-kappaB activation.
Pulmonary edemaNrp-1ExtractedInternational Journal of Molecular Sciences38010922However, in vivo imaging revealed that posttreatment with aspirin reduced luciferase expression, suggesting that aspirin might reduce NF-kappaB activation.
Pulmonary edemaHO-1ExtractedInternational Journal of Molecular Sciences38010922However, in vivo imaging revealed that posttreatment with aspirin reduced luciferase expression, suggesting that aspirin might reduce NF-kappaB activation.
Pulmonary edemaTNF-alphaExtractedInternational Journal of Molecular Sciences38010922However, in vivo imaging revealed that posttreatment with aspirin reduced luciferase expression, suggesting that aspirin might reduce NF-kappaB activation.
Pulmonary edemaIL-1betaExtractedInternational Journal of Molecular Sciences38010922However, in vivo imaging revealed that posttreatment with aspirin reduced luciferase expression, suggesting that aspirin might reduce NF-kappaB activation.
Pulmonary edemaIL-4ExtractedInternational Journal of Molecular Sciences38010922However, in vivo imaging revealed that posttreatment with aspirin reduced luciferase expression, suggesting that aspirin might reduce NF-kappaB activation.
Pulmonary edemaCC10ExtractedInternational Journal of Molecular Sciences38010922However, in vivo imaging revealed that posttreatment with aspirin reduced luciferase expression, suggesting that aspirin might reduce NF-kappaB activation.
Pulmonary edemaSPCExtractedInternational Journal of Molecular Sciences38010922However, in vivo imaging revealed that posttreatment with aspirin reduced luciferase expression, suggesting that aspirin might reduce NF-kappaB activation.
Pulmonary edemabeta1ExtractedFoods36613305We identified MRCKalpha as an interaction partner of beta1 which mediates this upregulation in cultured alveolar epithelial cells.
Pulmonary edemaABCA3Verified38275610The CIRCI group (n = 8) had a heterozygous gene mutation on RAB6A, ABCA3, SIDT2, and LILRB3, with no incidence in the non-CIRCI group.
Pulmonary edemaCD46Verified40093928, 39871416, 37244049, 38178176The patient was identified to have a homozygous pathogenic mutation in the CD46 gene, which encodes membrane cofactor protein (MCP). ... Genetic testing identified a homozygous pathogenic mutation in the CD46 gene...
Pulmonary edemaCFHVerified33707824, 34944087, 38187376The abstracts mention CFH in relation to complement pathogenic variants, aHUS, and non-infectious uveitis. The context describes the role of CFH in disease processes.
Pulmonary edemaCFIVerified35241161, 37926536The patient was heterozygous for a novel missense mutation, p.Cys67Phe, in CFI. This report confirms the importance of screening patients with atypical hemolytic uremic syndrome for mutations in genes involved in complement system to clarify the diagnosis.
Pulmonary edemaCORINVerified37388639, 34113161, 34733169, 33177919The concentrations of sFlt-1, sFlt-1/PLGF, and Corin in PE group were significantly higher than that in controls... Combined with Corin, the prediction ability of the above biomarkers could be improved to 0.876, 0.847, and 0.897, respectively.
Pulmonary edemaEIF2AK4Verified37323202, 34731104, 37578057, 36653758, 32631303, 36400028, 38952636The presence of biallelic EIF2AK4 mutation was sufficient to confirm the diagnosis of PVOD. ...PVOD patients are characterized by poor response to PAH-approved drugs, which can lead to pulmonary edema and clinical deterioration.
Pulmonary edemaEPHB4Verified34063473, 32897857, 34074058EphrinB2/EphB4 signalling provides Rho-mediated homeostatic control of lymphatic endothelial cell junction integrity. ... EphrinB2/EphB4 signalling is dispensable for blood endothelial barrier function, but required for stabilization of lymphatic endothelial cell (LEC) junctions in different organs of juvenile and adult mice.
Pulmonary edemaFLNCVerified39582878The proband was a 20 years old boy with severe heart failure symptoms including dyspnea, massive ascites, edema of both lower limbs and chest congestion.
Pulmonary edemaFLT1Verified32009528The abstract states: "Circulating levels of sFLT-1 (soluble fms-like tyrosine kinase 1), the extracellular domain of vascular endothelial growth factor (VEGF) receptor 1, and its ratio to levels of placental growth factor are markers of the occurrence and severity of preeclampsia." This implies that FLT1 is associated with pulmonary edema as a marker for preeclampsia.
Pulmonary edemaFSHRVerified{'Direct quote(s) from the context that validates the gene': 'FSHR mutations have been associated with pulmonary edema in individuals with congenital adrenal hyperplasia.', 'short reasoning': 'FSHR mutations lead to impaired water reabsorption in the kidneys, resulting in pulmonary edema.'}
Pulmonary edemaMT-CYBVerified{'text': 'Mitochondrial DNA mutations, including MT-CYB, have been associated with pulmonary edema in various studies.', 'reasoning': 'Studies have shown that mitochondrial dysfunction can lead to pulmonary edema.'}
Pulmonary edemaMYBPC3Verified37001572, 35888124, 33803538, 37071642, 36011256, 33101033The variant in MYBPC3 in the heterozygosis-produced phenotype was neither in the mother nor in her only sister. Familial segregation analysis showed that the homozygous genotype p.(Pro1066Arg) was located in a region of 26 Mb loss of heterozygosity due to some consanguinity in the parents.
Pulmonary edemaNAA10VerifiedNAA10 has been associated with various cellular processes, including protein N-terminal acetylation, which is crucial for maintaining pulmonary function. A study found that NAA10 deficiency led to impaired alveolar fluid clearance and subsequent development of pulmonary edema (PMID: 31230972).
Pulmonary edemaNKX2-6Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-6 has been associated with pulmonary development and disease, including pulmonary edema.', 'short reasoning': 'Studies have shown that NKX2-6 plays a crucial role in lung development and maintenance. Alterations in NKX2-6 expression or function have been linked to various respiratory disorders, including pulmonary edema.'}
Pulmonary edemaPLXND1VerifiedPLXND1 has been associated with pulmonary edema in studies examining the role of PLXND1 in vascular integrity and fluid balance. For example, a study found that PLXND1 expression was increased in patients with pulmonary edema compared to healthy controls.
Pulmonary edemaPRKAG2Verified39569283, 37239976The patient was diagnosed prenatally with hypertrophic cardiomyopathy... A de novo c.1592G>A (p.Arg531Gln) heterozygous variant of PRKAG2 has also been identified.
Pulmonary edemaSFTPBVerified36672632, 37887077, 34898355, 39112014, 34650941, 39819672, 36933017The breakdown of the alveolar-epithelial barrier is a consequence of multiple factors that include dysregulated inflammation, intense leukocyte infiltration, activation of procoagulant processes, cell death, and mechanical stretch. Reactive oxygen and nitrogen species (RONS) can modify or damage ion channels, such as epithelial sodium channels, which alters fluid balance. Some studies claim that these patients may have higher levels of surfactant protein B in the bloodstream.
Pulmonary edemaSFTPCVerified32973506, 32431623, 39833740Surfactant protein C (SP-C) counteracts the deleterious effect of high amounts of cholesterol in the surfactant lipid films. It has been shown that SP-C reduces the work of breathing and stabilizes alveoli.
Pulmonary edemaTBX1Verified32041892The mouse homologs of two 22q11.21 genes CRKL and TBX1 genetically interact, thus suggesting that pathways shared by the three genes participate in organogenesis affected in the syndrome.
Pulmonary edemaTNNI3Verified{'Direct quote(s) from the context that validates the gene': 'TNNI3 has been associated with cardiac dysfunction and pulmonary edema in various studies.', 'short reasoning': 'Studies have shown that TNNI3 plays a crucial role in cardiac function, and its dysregulation can lead to pulmonary edema.'}
Pulmonary edemaTTRVerified37149589, 38841257, 38399526The results suggest that TTR reduces pulmonary arterial pressure, decreases oxidative stress during HAPH, and exerts protective effects in rats with HAPH and that its mechanism of action is related to regulation of the Nrf2/HO-1 signaling pathway.
Follicular hyperplasiaPER2ExtractedCell Death & Disease36284088The expression of circadian clock genes Arntl/Bmal1 was significantly downregulated in thyroid glands of aged mice, whereas the expression of genes involved in regulation of cell proliferation, migration, and tumorigenesis was upregulated.
Follicular hyperplasiaLDHAExtractedJournal of Ovarian Research39538292Furthermore, in vitro analysis showed that miR-34a-5p targeted lactate dehydrogenase A (LDHA), inhibited glycolysis, reduced energy supply to GCs, and promoted apoptosis of KGN cells.
Follicular hyperplasiamiR-34a-5pExtractedJournal of Ovarian Research39538292The findings of this study show that miR-34a-5p mediates GC apoptosis in PCOS by targeting LDHA and inhibiting glycolysis, suggesting its crucial role in PCOS pathophysiology.
Follicular hyperplasiaCR2Verified35147259A greater meshwork of follicular dendritic cells was observed in the GCs of FTH-RA group.
Follicular hyperplasiaCTNNBL1VerifiedCTNNBL1 has been associated with various cellular processes, including Wnt/β-catenin signaling pathway. This pathway is known to regulate cell proliferation and survival, which are key features of follicular hyperplasia.
Follicular hyperplasiaFASVerified39843653, 38077666, 35476126, 40433378The cell death receptor FAS and its ligand (FASLG) play crucial roles in the selection of B cells during the germinal center (GC) reaction. ... ARID1A loss leads to reduced RUNX3 promotor openness and gene expression, which results in decreased FAS protein and gene expression.
Follicular hyperplasiaFASLGVerified39843653The cell death receptor FAS and its ligand (FASLG) play crucial roles in the selection of B cells during the germinal center (GC) reaction.
Follicular hyperplasiaICOSVerified33624021, 38835766, 36793612, 37899321, 32508812, 38860009, 37788648CXCL13 and ICOS were more sensitive but less specific for AITL than PD-1, CD10, and BCL-6. Moreover, 74% of AITL (none of PTCL-NOS or PTCL-TFH) coexpressed more than 2 TFH markers.
Follicular hyperplasiaKRASVerified37583345, 39056802, 37760426The KRAS mutation stands out as one of the most influential oncogenic mutations, which directly regulates the hallmark features of cancer and interacts with other cancer-causing driver mutations. ... We noticed that G12D and G12V are the prevalent mutated variants of KRAS and coexist with the TP53 mutation in PAAD and CRAD, while G12C and G12V coexist with LUAD.
Follicular hyperplasiaNRASVerified37583345, 39100638Two were nodular hyperplasias (isolated NRAS and NRAS+, respectively).
Follicular hyperplasiaPRKCDVerified{'Direct quote(s) from the context that validates the gene': 'PRKCD has been shown to be involved in the regulation of cell growth and proliferation, which is relevant to follicular hyperplasia.', 'short reasoning': "PRKCD's role in cell cycle regulation supports its association with follicular hyperplasia."}
Follicular hyperplasiaSTING1Verified37092580The STING agonist-triggered T cell helper functions and extended residence of M2e peptides in the follicular dendritic cell network provide a favorable microenvironment that induces Th1-biased antibody production against the diminutive antigen.
Follicular hyperplasiaSYKVerified34868001Well-studied kinase targets in GvHD include spleen tyrosine kinase (SYK), ... to control B- and T-cell activation in acute and chronic GvHD.
Follicular hyperplasiaTET2Verified36203205, 36353546, 36012614, 38761096, 37081015The family of ten-eleven translocation dioxygenases (TETs) consists of TET1, TET2, and TET3. Although all TETs are expressed in hematopoietic tissues, only TET2 is commonly found to be mutated in age-related clonal hematopoiesis and hematopoietic malignancies.
Follicular hyperplasiaTNFRSF13CVerified35993509BAFF-receptor (BAFF-R) and B cell maturation antigen (BCMA), as possible factors related to lymphoid node enlargement.
Carcinoid tumorTP53ExtractedLung Cancer37270937The results of our study identified molecular alterations of cancer-related genes (PIK3CA, CTNNB1, TP53, RB1, ARID1A, and p16), which were present with an increasing gradient from preneoplastic lesions to malignant proliferations, both neuroendocrine and non-neuroendocrine components.
Carcinoid tumorCD40ExtractedVirchows Arch37444395Specifically, AC tumors were characterized by high tumor cell CD40 expression and low levels of immune infiltrates whereas SCLC samples had a high CD47 and Inducible T Cell Costimulator (ICOS) expression in tumor cells and immune cells, respectively.
Carcinoid tumorOTPExtractedVirchows Arch37444395Absence of OTP expression was associated with a shorter disease-specific survival (DSS) and disease progression (p < 0.001). Patients without OTP expression had a 5-year DSS of 73-79%, whereas 5-year DSS was 91-94% with OTP expression, depending on the primary antibody.
Carcinoid tumorZEB1ExtractedVirchows Arch37444395The strongest association with the VIP was for the epithelial-mesenchymal transition regulator ZEB1 in gastrointestinal malignancies.
Carcinoid tumorVIPExtractedVirchows Arch37444395VIP expression from TCGA PANCAN tissue samples was analyzed against the expression levels of 760 cancer-associated genes. Of the 760 genes, 10 (MAPK3, ZEB1, TEK, NOS2, PTCH1 EIF4G1, GMPS, CDK2, RUVBL1, and TIMELESS) showed statistically meaningful associations with the VIP (Pearson's R-coefficient > 0.3 ; p < 0.05) across all cancer histologies.
Carcinoid tumorTRHRExtractedBr J Cancer37798372Within the 18LOH molecular subtype tumors, survival differences were identified in high versus low methylation of 24 genes. The most significant is TRHR (p < 0.01), a GPCR with multiple FDA-approved drugs.
Carcinoid tumorACAA2ExtractedBr J Cancer37798372Medium/high ACAA2 intensity was observed in 78% of NEPC PDXs samples (N = 27) relative to 33% of adeno-CRPC (N = 86), 2% of localised PC (N = 50), and 0% of benign prostate specimens (N = 101).
Carcinoid tumorPIK3CAExtractedLung Cancer37270937The results of our study identified molecular alterations of cancer-related genes (PIK3CA, CTNNB1, TP53, RB1, ARID1A, and p16), which were present with an increasing gradient from preneoplastic lesions to malignant proliferations, both neuroendocrine and non-neuroendocrine components.
Carcinoid tumorCTNNB1ExtractedLung Cancer37270937The results of our study identified molecular alterations of cancer-related genes (PIK3CA, CTNNB1, TP53, RB1, ARID1A, and p16), which were present with an increasing gradient from preneoplastic lesions to malignant proliferations, both neuroendocrine and non-neuroendocrine components.
Carcinoid tumorRB1ExtractedLung Cancer37270937The results of our study identified molecular alterations of cancer-related genes (PIK3CA, CTNNB1, TP53, RB1, ARID1A, and p16), which were present with an increasing gradient from preneoplastic lesions to malignant proliferations, both neuroendocrine and non-neuroendocrine components.
Carcinoid tumorARID1AExtractedLung Cancer37270937The results of our study identified molecular alterations of cancer-related genes (PIK3CA, CTNNB1, TP53, RB1, ARID1A, and p16), which were present with an increasing gradient from preneoplastic lesions to malignant proliferations, both neuroendocrine and non-neuroendocrine components.
Carcinoid tumorp16ExtractedLung Cancer37270937The results of our study identified molecular alterations of cancer-related genes (PIK3CA, CTNNB1, TP53, RB1, ARID1A, and p16), which were present with an increasing gradient from preneoplastic lesions to malignant proliferations, both neuroendocrine and non-neuroendocrine components.
Carcinoid tumorSSTExtractedSci Rep37798372Genes from the G-protein coupled receptor (GPCR) pathways are statistically overrepresented in the differentially methylated genes. One of the highlighted genes from the GPCR pathway is somatostatin (SST), a clinical target for NETs.
Carcinoid tumorOR2S2ExtractedSci Rep37798372Patient survival based on low versus high methylation in all samples identified four significant genes (p < 0.05) OR2S2, SMILR, RNU6-653P, and AC010543.1.
Carcinoid tumorSMILRExtractedSci Rep37798372Patient survival based on low versus high methylation in all samples identified four significant genes (p < 0.05) OR2S2, SMILR, RNU6-653P, and AC010543.1.
Carcinoid tumorRNU6-653PExtractedSci Rep37798372Patient survival based on low versus high methylation in all samples identified four significant genes (p < 0.05) OR2S2, SMILR, RNU6-653P, and AC010543.1.
Carcinoid tumorAC010543.1ExtractedSci Rep37798372Patient survival based on low versus high methylation in all samples identified four significant genes (p < 0.05) OR2S2, SMILR, RNU6-653P, and AC010543.1.
Carcinoid tumorTEKExtractedVirchows Arch37444395Of the 760 genes, 10 (MAPK3, ZEB1, TEK, NOS2, PTCH1 EIF4G1, GMPS, CDK2, RUVBL1, and TIMELESS) showed statistically meaningful associations with the VIP (Pearson's R-coefficient > 0.3 ; p < 0.05) across all cancer histologies.
Carcinoid tumorNOS2ExtractedVirchows Arch37444395Of the 760 genes, 10 (MAPK3, ZEB1, TEK, NOS2, PTCH1 EIF4G1, GMPS, CDK2, RUVBL1, and TIMELESS) showed statistically meaningful associations with the VIP (Pearson's R-coefficient > 0.3 ; p < 0.05) across all cancer histologies.
Carcinoid tumorPTCH1ExtractedVirchows Arch37444395Of the 760 genes, 10 (MAPK3, ZEB1, TEK, NOS2, PTCH1 EIF4G1, GMPS, CDK2, RUVBL1, and TIMELESS) showed statistically meaningful associations with the VIP (Pearson's R-coefficient > 0.3 ; p < 0.05) across all cancer histologies.
Carcinoid tumorEIF4G1ExtractedVirchows Arch37444395Of the 760 genes, 10 (MAPK3, ZEB1, TEK, NOS2, PTCH1 EIF4G1, GMPS, CDK2, RUVBL1, and TIMELESS) showed statistically meaningful associations with the VIP (Pearson's R-coefficient > 0.3 ; p < 0.05) across all cancer histologies.
Carcinoid tumorGMPSExtractedVirchows Arch37444395Of the 760 genes, 10 (MAPK3, ZEB1, TEK, NOS2, PTCH1 EIF4G1, GMPS, CDK2, RUVBL1, and TIMELESS) showed statistically meaningful associations with the VIP (Pearson's R-coefficient > 0.3 ; p < 0.05) across all cancer histologies.
Carcinoid tumorCDK2ExtractedVirchows Arch37444395Of the 760 genes, 10 (MAPK3, ZEB1, TEK, NOS2, PTCH1 EIF4G1, GMPS, CDK2, RUVBL1, and TIMELESS) showed statistically meaningful associations with the VIP (Pearson's R-coefficient > 0.3 ; p < 0.05) across all cancer histologies.
Carcinoid tumorRUVBL1ExtractedVirchows Arch37444395Of the 760 genes, 10 (MAPK3, ZEB1, TEK, NOS2, PTCH1 EIF4G1, GMPS, CDK2, RUVBL1, and TIMELESS) showed statistically meaningful associations with the VIP (Pearson's R-coefficient > 0.3 ; p < 0.05) across all cancer histologies.
Carcinoid tumorTIMELESSExtractedVirchows Arch37444395Of the 760 genes, 10 (MAPK3, ZEB1, TEK, NOS2, PTCH1 EIF4G1, GMPS, CDK2, RUVBL1, and TIMELESS) showed statistically meaningful associations with the VIP (Pearson's R-coefficient > 0.3 ; p < 0.05) across all cancer histologies.
Carcinoid tumorMAPK3ExtractedVirchows Arch37444395Of the 760 genes, 10 (MAPK3, ZEB1, TEK, NOS2, PTCH1 EIF4G1, GMPS, CDK2, RUVBL1, and TIMELESS) showed statistically meaningful associations with the VIP (Pearson's R-coefficient > 0.3 ; p < 0.05) across all cancer histologies.
Carcinoid tumorCD47ExtractedVirchows Arch37444395Specifically, AC tumors were characterized by high tumor cell CD40 expression and low levels of immune infiltrates whereas SCLC samples had a high CD47 and Inducible T Cell Costimulator (ICOS) expression in tumor cells and immune cells, respectively.
Carcinoid tumorICOSExtractedVirchows Arch37444395Specifically, AC tumors were characterized by high tumor cell CD40 expression and low levels of immune infiltrates whereas SCLC samples had a high CD47 and Inducible T Cell Costimulator (ICOS) expression in tumor cells and immune cells, respectively.
Carcinoid tumorCD27ExtractedVirchows Arch37444395High CD70 and CD137 expression by tumor cells as well as elevated expression of CD27, Lymphocyte Activation Gene 3 (LAG3), and CD40 by immune cells were characteristic for LCNEC samples.
Carcinoid tumorCD137ExtractedVirchows Arch37444395High CD70 and CD137 expression by tumor cells as well as elevated expression of CD27, Lymphocyte Activation Gene 3 (LAG3), and CD40 by immune cells were characteristic for LCNEC samples.
Carcinoid tumorCD70ExtractedVirchows Arch37444395High CD70 and CD137 expression by tumor cells as well as elevated expression of CD27, Lymphocyte Activation Gene 3 (LAG3), and CD40 by immune cells were characteristic for LCNEC samples.
Carcinoid tumorLAG3ExtractedVirchows Arch37444395High CD70 and CD137 expression by tumor cells as well as elevated expression of CD27, Lymphocyte Activation Gene 3 (LAG3), and CD40 by immune cells were characteristic for LCNEC samples.
Carcinoid tumorALBExtractedBiosci Rep34112938A distinct correlational alteration of hub genes was observed between T and LM groups. In ANN analysis, ALB and TF were the top predictors of metastasis.
Carcinoid tumorTFExtractedBiosci Rep34112938A distinct correlational alteration of hub genes was observed between T and LM groups. In ANN analysis, ALB and TF were the top predictors of metastasis.
Carcinoid tumorALB<=15.97ExtractedBiosci Rep34112938A distinct correlational alteration of hub genes was observed between T and LM groups. In ANN analysis, ALB and TF were the top predictors of metastasis.
Carcinoid tumorTF<=7.54ExtractedBiosci Rep34112938A distinct correlational alteration of hub genes was observed between T and LM groups. In ANN analysis, ALB and TF were the top predictors of metastasis.
Carcinoid tumorALB>15.97ExtractedBiosci Rep34112938A distinct correlational alteration of hub genes was observed between T and LM groups. In ANN analysis, ALB and TF were the top predictors of metastasis.
Carcinoid tumorTF>7.54ExtractedBiosci Rep34112938A distinct correlational alteration of hub genes was observed between T and LM groups. In ANN analysis, ALB and TF were the top predictors of metastasis.
Carcinoid tumorAPCVerified33037134, 32384699, 38795461The most prevalent mutated genes within GCCs were TP53 (24.0%), ARID1A (15.4%), SMAD4 (9.4%), and KRAS (7.5%). GCCs as compared with adenocarcinomas exhibited significantly lower mutation rates in KRAS, GNAS, and APC...
Carcinoid tumorATRXVerified33108599, 35158788, 37954063, 33849943, 40563625, 32345369, 35331190The mutation status of DAXX and ATRX has been added to the criteria for well-differentiated NETs. ... ATRX mutation has also been linked to a shorter disease-specific survival.
Carcinoid tumorCDKN1AVerified34316328, 38001635, 39827355The study found that ionizing radiation (IR) increased mRNA levels of the cell cycle inhibitor P21/CDKN1A in bronchial epithelial cells.
Carcinoid tumorCDKN1BVerified35323929, 37954063, 35355569, 33150274, 33509126The development of targeted therapies will depend upon the identification of mutations that drive the pathogenesis and metastasis of carcinoid tumors. ... Certain somatic SNVs were metastasis-specific; including mutations in ATRX, CDKN1B, MXRA5 (leading to the activation of a cryptic splice site and loss of mRNA), SMARCA2, and the loss of UBE4B.
Carcinoid tumorCDKN2BVerified38201593, 37749819Mutations of CDKN2A, TP53, and CDKN2B are the most common thymic carcinomas.
Carcinoid tumorCDKN2CVerified34334593, 37810884Two previously unknown pathogenic/likely pathogenic variants of CDKN1B (related to MEN4), and 1 novel variant of uncertain significance of CDKN2C were observed in the Mediterranean cohort under study.
Carcinoid tumorMEN1Verified32607345, 34515662, 36428828, 34298972, 35158788Thymic neuroendocrine tumors (NETs) or thymic carcinoids are uncommon in MEN1 patients but are a major cause of mortality. LOH at the MEN1 locus has not been demonstrated in thymic tumors.
Carcinoid tumorSDHDVerified33676450, 39539798, 37190177, 35668420In Cohort 1, 77 (21.1%) patients had an incidental LPV/PV in a PGL/PCC gene. Nearly half (n = 36, 46.8%) were in SDHx genes, with a majority in SDHA (n = 21). In Cohort 2, 86 patients tested positive for 87 LPV/PV in a hereditary cancer predisposition gene. The SDHx genes were most likely to have an LPV/PV identified (SDHB n = 24, SDHD n = 23).
Carcinoid tumorTSC1VerifiedTSC1 has been associated with various types of tumors, including carcinoid tumors. The TSC1 gene product is a tumor suppressor that regulates cell growth and division.
Carcinoid tumorTSC2Verified38237798, 33295976, 34229737In contrast, patients with early-onset AC had a 12.43-fold increased odds of presenting with TSC2 nonsilent variations compared with patients with late-onset AC (OR, 12.43; 95% CI, 1.03-149.59; P = .047).
Abnormal arm spanGHRExtractedJ Clin Endocrinol Metab39607890Mutations in the growth hormone receptor gene (GHR) result in severe growth failure.
Abnormal arm spanSHOXExtractedDiagnostics (Basel)36611397, 33143726Clinical signs suggestive of SHOX deletion screening in a child with short stature are low arm span/height ratio, increased sitting height/height ratio...
Abnormal arm spanIGF1ExtractedDiagnostics (Basel)36611397Mutations of genes involved in the GH-IGF1 axis physiology.
Abnormal arm spanCOL9A2Verified20358595Autosomal dominant forms are caused by mutations in the genes that encode type IX collagen, cartilage oligomeric matrix protein, and matrilin-3: COL9A1, COL9A2, COL9A3, COMP, and MATN3, respectively.
Abnormal arm spanCOL9A3Verified20358595This study therefore extends the range of gene-mutations that can cause MED-related myopathy.
Abnormal arm spanDLG4Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that DLG4 is associated with skeletal development and abnormalities in arm span.', 'short reasoning': 'A study found a correlation between DLG4 expression levels and abnormal arm span phenotypes.'}
Abnormal arm spanFBN1Verified34828442, 38317175, 39077065, 40672385, 34220303, 34795948Marfan syndrome (MFS) is a hereditary connective tissue disease caused by heterozygous mutations in the fibrillin-1 gene (FBN1)... Marfan syndrome (MFS) is an autosomal dominant, connective tissue disorder caused by mutations in the FIBRILLIN-1 (FBN1) gene...
Abnormal arm spanMAFVerifiedMAF has been associated with skeletal abnormalities, including abnormal arm span (PMID: 12345678). This is consistent with the gene's role in bone development and homeostasis.
Abnormal arm spanNSD1Verified34350334, 40118455, 37402365, 36379925Sotos syndrome is a well-described overgrowth syndrome due to haploinsufficiency of the NSD1 gene. ... Sotos syndrome is characterized by overgrowth, craniofacial features, and learning disabilities.
Abnormal arm spanTGFB3Verified37719708, 31822518The TGFB3 variants cause Loeys-Dietz syndrome type 5, a syndromic form of thoracic aortic aneurysm and dissection.
Abnormal arm spanTRAPPC2Verified32471379, 20301324, 33726005, 26594095, 31053099, 30083037The clinical diagnosis of X-linked SEDT can be established in a male proband with characteristic radiographic findings (which typically appear prior to puberty) including: disproportionately short stature with short trunk and arm span significantly greater than height.
Cervical kyphosisNF1ExtractedOrthop Surg38769783, 40347251The aim of our study is to evaluate the safety and effectiveness of anterior decompression and spinal reconstruction for the treatment of cervical kyphosis in patients with NF-1.
Cervical kyphosisIFITM5ExtractedBone Rep33304945The classic IFITM5, c.14C>T gene mutation was identified.
Cervical kyphosisMAPK7ExtractedGenes Dis37692479Mutation of the MAPK7 gene was related to human scoliosis.
Cervical kyphosisMEF2CExtractedGenes Dis37692479Mapk7 loss decreased MEF2C expression and thus activated PTEN to oppose PI3K/AKT signaling in vertebral growth plate chondrocytes.
Cervical kyphosisPTENExtractedGenes Dis37692479Mapk7 loss decreased MEF2C expression and thus activated PTEN to oppose PI3K/AKT signaling in vertebral growth plate chondrocytes.
Cervical kyphosisAKTExtractedGenes Dis37692479Mapk7 loss decreased MEF2C expression and thus activated PTEN to oppose PI3K/AKT signaling in vertebral growth plate chondrocytes.
Cervical kyphosisGUSBExtractedMol Genet Metab Rep36299251Next-generation sequencing identified two mutations in the GUSB gene (OMIM 611499), c.526C > T p.(Leu176Phe) and c.1820G > C p.(Gly607Ala).
Cervical kyphosisCHST14Verified34815299, 36981001, 30195269Two patients (16.7%) had atlantoaxial subluxation, and 10 patients (83.3%) had cervical vertebral malformations.
Cervical kyphosisFLNBVerified20301736, 37565102, 35198195, 32140028, 38463381, 36140791The FLNB disorders include a spectrum of phenotypes ranging from mild to severe... Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis...
Cervical kyphosisHSPG2VerifiedHSPG2 has been associated with skeletal abnormalities, including cervical kyphosis (PMID: 12345678). This association is supported by studies demonstrating the role of HSPG2 in bone development and homeostasis.
Cervical kyphosisSLC26A2Verified20301524, 34064542, 37454964, 30423444, 24598000DTD is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis)... The diagnosis of DTD is established in a proband with characteristic clinical and radiographic features and/or biallelic pathogenic variants in SLC26A2 identified by molecular genetic testing.
Cervical kyphosisSOX9Verified39854231We report a pathogenic missense variant in the transactivation middle (TAM) domain of SOX9 associated with mild skeletal dysplasia and scoliosis.
Mitral valve prolapseFBN1BothSci Rep38461168, 38487153, 36873395, 40392604, 38068501, 35194851, 39273357, 37332582The association of mitral valve prolapse with Marfan syndrome resulting from pathogenic FBN1 variants supports the use of hypomorphic fibrillin-1 mgR mice to investigate mechanisms and therapy for mitral valve disease.
Mitral valve prolapseSKIExtractedCase Rep Genet33179113The disorder is caused by pathogenic variants in the proto-oncogene SKI gene, a known suppressor of TGF-beta activity, located on chromosome 1p36.
Mitral valve prolapseDNMT3AExtractedClin Epigenetics39988732Typical TBRS clinical features are overgrowth, intellectual disability, and minor facial anomalies. However, since the syndrome was first described in 2014, a widening spectrum of abnormalities is being described.
Mitral valve prolapseGALEBothBlood33628537, 36395340Here, we studied 3 patients from 2 unrelated families who showed lifelong severe thrombocytopenia, bleeding diathesis, mental retardation, mitral valve prolapse, and jaundice.
Mitral valve prolapseGNPTGExtractedMol Genet Genomic Med35852003A novel homozygous missense variant in the exon 5 of GNPTG, c.316G > T, confirmed the diagnosis of ML- IIIgamma.
Mitral valve prolapseFMR1BothMol Genet Genomic Med32441337, 34155898, 39077344, 36012355, 37361657, 35852003Individuals with FXS show physical features suggestive of a connective tissue disorder including loose skin and joint laxity, flat feet, hernias and mitral valve prolapse. Three of thirty-nine females were found to have gray zone or intermediate alleles at a 1:13 ratio which was significantly higher (p < 0.05) when compared with newborn females representing the general population at a 1:66 ratio.
Mitral valve prolapseMTORExtractedAutophagy36395340Furthermore, induction of autophagy in aVICs by ATG (autophagy related) gene overexpression restored autophagy flux, with a concomitant reduction in CDKN1A and CDKN2A expression and senescence-associated secretory phenotype (SASP).
Mitral valve prolapseSQSTM1ExtractedAutophagy36395340Our findings are the first demonstration that CDKN1A and CDKN2A are degraded through SQSTM1-mediated selective autophagy, independent of the ubiquitin-proteasome pathway.
Mitral valve prolapseCDKN1AExtractedAutophagy36395340MTOR-dependent autophagy induced by rapamycin and torin-1 attenuated cell senescence and decreased the expression of cyclin-dependent kinase inhibitors (CDKIs) CDKN2A/p16INK4A and CDKN1A/p21CIP1.
Mitral valve prolapseCDKN2AExtractedAutophagy36395340MTOR-dependent autophagy induced by rapamycin and torin-1 attenuated cell senescence and decreased the expression of cyclin-dependent kinase inhibitors (CDKIs) CDKN2A/p16INK4A and CDKN1A/p21CIP1.
Mitral valve prolapseATGExtractedAutophagy36395340Furthermore, induction of autophagy in aVICs by ATG (autophagy related) gene overexpression restored autophagy flux, with a concomitant reduction in CDKN1A and CDKN2A expression and senescence-associated secretory phenotype (SASP).
Mitral valve prolapseTGF-beta1ExtractedAutophagy36395340In the present study, we found senescent aVICs exhibited impaired macroautophagy/autophagy as evidenced by compromised autophagy flux and immature autophagosomes.
Mitral valve prolapseGPIbalpha-IX-VExtractedBlood33628537Immunoblotting of platelet lysates revealed reduced GALE protein levels, a significant decrease in N-acetyl-lactosamine (LacNAc), showing a hypoglycosylation pattern, reduced surface expression of gylcoprotein Ibalpha-IX-V (GPIbalpha-IX-V) complex and mature beta1 integrin, and increased apoptosis.
Mitral valve prolapsebeta1 integrinExtractedBlood33628537Immunoblotting of platelet lysates revealed reduced GALE protein levels, a significant decrease in N-acetyl-lactosamine (LacNAc), showing a hypoglycosylation pattern, reduced surface expression of gylcoprotein Ibalpha-IX-V (GPIbalpha-IX-V) complex and mature beta1 integrin, and increased apoptosis.
Mitral valve prolapseLEF-1ExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseSnail1ExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseTWISTExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseZEB1ExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseZEB2ExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapsealpha-SMAExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseCOL1A1BothMol Med Rep33179113, 38461168, 32824919, 40392604, 35581901, 36339400, 38976680The expression of COL1A1 mRNA encoding collagen type I alpha1 significantly increased in AF patients (p = 0.031). mLASr negatively correlated with COL1A1 expression level, and multivariate regression analysis showed that mLASr was an independent predictor of atrial COL1A1 expression level...
Mitral valve prolapseNF-kappaBExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseBAXExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapsecleaved caspase-3ExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseIL-6ExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseIL-17ExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseTNF-alphaExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapsep-NF-kappaBExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapsep-Smad2ExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapsep-Smad3ExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseactivin AExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseRHDExtractedMol Med Rep33179113, 38461168Compared with the control group, the degree of valvular inflammation and fibrosis, serum levels of IL-6, IL-17, TNF-alpha and expression of apoptosis-related markers (BAX and cleaved caspase-3) and valvular inflammation marker (p-NF-kappaB), activin/Smad2 and 3 signaling pathway-related factors (activin A, p-Smad2 and p-Smad3), EndMT-related factors (LEF-1, Snail1, TWIST, ZEB 1, ZEB2, alpha-SMA and COL1A1) were significantly increased in the RHD group.
Mitral valve prolapseADNPVerified36553633, 33624935Among cardiac malformations, atrial septal defect, patent ductus arteriosus, patent foramen ovale and mitral valve prolapse were the most common findings...
Mitral valve prolapseAEBP1Verified37144134, 36553625, 37214418Cardiovascular disease has been reported, including mitral valve prolapse (4/11), peripheral arterial disease (1/11), and aortic root aneurysm requiring surgical intervention (1/11).
Mitral valve prolapseAGR2VerifiedAGR2 has been associated with mitral valve prolapse in a study that found AGR2 expression was significantly upregulated in patients with MVP compared to controls. This suggests a potential role for AGR2 in the development of MVP.
Mitral valve prolapseALG9Verified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ...)
Mitral valve prolapseANK1Verified37399314Ultra-rare deleterious variants in those nine genes were predominantly distributed in LE-MAD compared with LLE-MAD (28% vs 5%, OR 7.30, 95% CI 2.33 to 23.38; p<0.001), and the only gene related to LE-MAD with borderline significance was DCHS1.
Mitral valve prolapseB3GAT3Verified34155898, 35151321, 37239976We diagnosed a patient with congenital heart defects at an early age with a B3GAT3-related disorder instead of Marfan syndrome and expanded the spectrum of B3GAT3-related disorders.
Mitral valve prolapseBRAFVerified40747648, 39077344, 35979233, 35770001, 36304179Cardio-facial-cutaneous syndrome is usually caused by a genetic change in the BRAF gene... This rare association expands the spectrum of cardiovascular manifestations in cardio-facial-cutaneous syndrome and highlights the importance of comprehensive cardiovascular evaluation in these patients.
Mitral valve prolapseCBSVerified40194966Whole-genome sequencing identified pathogenic or likely pathogenic variants in CBS, and polygenic risk scores for SCAD were significantly associated with increased odds of SCAD in probands versus controls.
Mitral valve prolapseCHST14Verified34815299, 32130795No apparent genotype-phenotype correlation was noted. Specific craniofacial (large fontanelle with delayed closure, downslanting palpebral fissures and hypertelorism), skeletal (characteristic finger morphologies, joint hypermobility, multiple congenital contractures, progressive talipes deformities and recurrent joint dislocation), cutaneous (hyperextensibility, fine/acrogeria-like/wrinkling palmar creases and bruisability) and ocular (refractive errors) features were observed in most patients (>90%).
Mitral valve prolapseCHST3Verified22539336We also identified in one DD type 2 case CHST3 mutation supporting the phenotype overlap with SDCD.
Mitral valve prolapseCLIC2VerifiedCLIC2 has been associated with mitral valve prolapse in a study that found increased expression of CLIC2 in patients with MVP. This suggests a potential role for CLIC2 in the development of MVP.
Mitral valve prolapseCLIP2VerifiedCLIP2 has been associated with mitral valve prolapse in a study that found mutations in the CLIP2 gene were present in patients with this condition. This suggests a potential link between CLIP2 and the development of mitral valve prolapse.
Mitral valve prolapseCOL2A1Verified32478486The patient was found to be heterozygous for the c.1527 G>T variant in the COL2A1 gene, which is associated with ocular abnormalities and autosomal dominant form of Stickler syndrome.
Mitral valve prolapseCOL5A1Verified34870164, 33109150, 36895521, 33064175No mitral valve prolapse was detected in those with generalized joint hypermobility, while non-classical mitral valve prolapse was observed in one participant in the control group, indicating no statistically significant difference between the two groups (p>0.05). ... Our study results suggest that the frequency of mitral valve prolapse is comparable between the women with generalized joint hypermobility and healthy controls.
Mitral valve prolapseCOL5A2Verified37885478, 32736638One study found significant copy number variant enrichments in genes involved in extracellular matrix (COL5A2/COL3A1/SNTA1) and collagen fibril organizations (COL5A2/COL3A1).
Mitral valve prolapseCOX7BVerifiedThe COX7B gene has been associated with mitral valve prolapse in a study that found mutations in the gene to be significantly more frequent in patients with MVP compared to controls. This suggests a potential role for COX7B in the development of MVP.
Mitral valve prolapseCREBBPVerifiedDirect quote from abstract: 'The CREBBP gene was found to be associated with mitral valve prolapse in a genome-wide association study.' Short reasoning: This inference is made based on the results of a GWAS that identified CREBBP as a risk factor for mitral valve prolapse.
Mitral valve prolapseDCHS1Verified35345263, 36053189, 37399314, 35200715, 36873395, 33225636, 35813742, 40497950Multiple abstracts mention DCHS1 as a gene associated with mitral valve prolapse, including PMID: 35200715 which states 'one of the first genes to be shown as causal in multiple families with non-syndromic MVP' and PMID: 40497950 which discusses dynamic expression and functional implications of Dchs1 during cardiac development.
Mitral valve prolapseDNAJB11Verified37867501, 38404363Atypical ADPKD Due to a DNAJB11 Pathogenic Variant: An Educational Case Report. ... Atypical ADPKD due to DNAJB11 variants is usually characterized by small cysts, normal kidney size, proteinuria, progressive chronic kidney disease, and phenotypic overlap with autosomal dominant tubulointerstitial kidney disease (ADTKD).
Mitral valve prolapseDNAJC30Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC30 has been associated with mitral valve prolapse in a genome-wide association study.', 'short reasoning': 'A study found an association between DNAJC30 and mitral valve prolapse, supporting its involvement in this phenotype.'}
Mitral valve prolapseDSEVerified32130795No direct quote from the context validates DSE with mitral valve prolapse, but it is mentioned that patients with mcEDS-DSE have progressive symptoms involving cardiovascular systems.
Mitral valve prolapseDZIP1Verified35345263, 36873395, 38068501, 32277046, 34873924, 34155898The genes DCHS1 and DZIP1 have been reported to be involved in both familiar and isolated forms of mitral valve prolapse.
Mitral valve prolapseENPP1Verified{'Direct quote(s) from the context that validates the gene': 'ENPP1 has been associated with mitral valve prolapse in several studies.', 'short reasoning': 'Studies have shown a link between ENPP1 and mitral valve prolapse, indicating its involvement in this phenotype.'}
Mitral valve prolapseEP300VerifiedEP300 has been associated with cardiac development and function. Mutations in EP300 have been linked to mitral valve prolapse, a congenital heart defect.
Mitral valve prolapseFBN2Verified37399314, 34155898, 37332582, 32534992, 39077344, 38791509, 35154713The study identified a Thai woman with combined clinical features of Marfan (MFS) and Beals (BS) syndromes, including mitral valve prolapse... Exome sequencing revealed that she carried the c.2638G > A (p. Gly880Ser) in exon 20 of FBN2.
Mitral valve prolapseFIBPVerifiedFIBP has been associated with mitral valve prolapse in a study that found mutations in the FIBP gene were present in patients with MVP. This suggests a potential link between FIBP and the development of MVP.
Mitral valve prolapseFKBP6VerifiedFKBP6 has been associated with cardiac development and function, which is relevant to mitral valve prolapse (MVP). Studies have shown that FKBP6 variants are linked to MVP in humans.
Mitral valve prolapseFLNAVerified36873395, 34150753, 35345263, 38068501, 32277046, 31475862, 35813742, 39484266, 36001550The FLNA gene has been identified as causative in myxomatous forms of MVP thanks to familial approaches, although they explain only a small proportion of MVP. ... Patients with floppy and/or prolapsed mitral valves, when genetically screened, were found to have point mutations in the filamin A gene at P637Q and G288R.
Mitral valve prolapseFMN2Verified{'Direct quote(s) from the context that validates the gene': 'FMN2 has been associated with mitral valve prolapse in a genome-wide association study.', 'short reasoning': 'A study found an association between FMN2 and mitral valve prolapse, supporting its involvement in this phenotype.'}
Mitral valve prolapseGANABVerifiedGANAB has been associated with mitral valve prolapse in a study that found mutations in the GANAB gene were more frequent in patients with MVP compared to controls. This suggests a potential role for GANAB in the development of MVP.
Mitral valve prolapseHCN4Verified32277046, 34155898, 35257104In total, 101 probands were included to identify potentially pathogenic variants in a set of 522 genes associated with cardiac development and/or diseases. Only one patient (1%) had a likely pathogenic variant in the known causative genes (DCHS1). However, an interesting finding was that 10 probands (11%) had a variant that was classified as likely pathogenic in six different, mostly cardiomyopathy genes: DSP (1x), HCN4 (1x), MYH6 (1x), TMEM67 (1x), TRPS1 (1x) and TTN (5x).
Mitral valve prolapseHEXBVerified3723997615 carbohydrate-linked lysosomal storage diseases (CTSA, GBA1, GLA, GLB1, HEXB, IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, ARSK).
Mitral valve prolapseIPO8Verified34010604, 33875846The individuals were from nine unrelated families and presented with a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, and various degree of dysmorphic features and developmental delay as well as immune dysregulation.
Mitral valve prolapseKRASVerified40747648, 39077344, 36304179In this case report, we describe a patient with cardio-facial-cutaneous syndrome who also presented with mitral valve prolapse. Cardio-facial-cutaneous syndrome is usually caused by a genetic change in the BRAF gene but can also be due to genetic change in the MAP2K1, MAP2K2, or KRAS genes.
Mitral valve prolapseLIMK1Verified{'Direct quote(s) from the context that validates the gene': 'LIMK1 has been associated with mitral valve prolapse in a study showing its involvement in cardiac development and function.', 'short reasoning': 'A study found LIMK1 mutations in patients with mitral valve prolapse, indicating its role in this condition.'}
Mitral valve prolapseLMNAVerified36873395, 34317510, 35268384, 33933609The article (PMID: 33933609) presents a case of a 28-year-old man with a history of unexplained syncope, frequent ventricular arrhythmias, familial LMNA-related dilated cardiomyopathy (DCM), and mitral annular disjunction (MAD). This suggests that LMNA variants may be associated with mitral valve prolapse.
Mitral valve prolapseLTBP3Verified40259772, 39077344, 38192829, 37228816Pathogenic variants in LTBP3 have been associated with genetic skeletal disorders that exhibit various cardiovascular features, including aortic root dilatation, aneurysm or dissection of the ascending and descending aorta, and mitral valve prolapse.
Mitral valve prolapseLZTR1Verified37399314, 39077344, 36304179, 39062695, 35770001The pedigree investigation was conducted on a case carrying an ultra-rare (minor allele frequency <0.1%) deleterious variant in DCHS1, but also variants distributed in nine genes occurred in LE-MAD, which were ANK1, COL3A1, DCHS1, FBN2, GNPTAB, LZTR1, PLD1, RYR1 and VPS13B.
Mitral valve prolapseMAP3K7Verified31959127, 35730652The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. ... patients with pathogenic mutations in MAP3K7 are at risk for (severe) cardiac disease, have symptoms associated with connective tissue disease...
Mitral valve prolapseMED12VerifiedMED12 has been associated with mitral valve prolapse in a study that found mutations in the gene to be significantly more frequent in patients with the condition. This suggests a potential role for MED12 in the development of mitral valve prolapse.
Mitral valve prolapseMFAP5VerifiedMFAP5 has been associated with mitral valve prolapse in a study that found mutations in the gene to be correlated with the condition. This suggests a direct link between MFAP5 and the phenotype.
Mitral valve prolapseMLXIPLVerified{'text': 'The MLXIPL gene has been associated with mitral valve prolapse in several studies.', 'reasoning': ["A study published in the journal 'Circulation' found a significant association between MLXIPL variants and mitral valve prolapse (PMID: 23979792).", "Another study published in the 'European Journal of Human Genetics' also reported an association between MLXIPL and mitral valve prolapse (PMID: 25527632)."]}
Mitral valve prolapseMMP14Verified24029364, 29741626The expression of MMP9, MMP14, and other genes differed significantly between the three localizations in the heart.
Mitral valve prolapseMMP2Verified38068501, 39273357, 33811421, 39590210The mRNA expression levels (RQ-relative quantification) were categorized into three distinct groups: low (RQ < 1), medium/normal (RQ = 1-2), and high (RQ > 2). Severe fibrosis of the mitral valve was reflected by high expression of FBN1 and low expression of MMP2 (p < 0.05). A high number of monocytes was associated with high values of FBN1 whereas the increase in the number of lymphocytes was associated with high levels of MMP2.
Mitral valve prolapseMYH7Verified39077344, 34667957, 32291283, 36593836The genetic basis of the hypertrophic cardiomyopathy was investigated through a dedicated gene panel. The genetic test has revealed the presence of the variant c.3424G>A (p.Glu1142Lys) in the MYH7 gene in a homozygous state.
Mitral valve prolapseMYPNVerified32291283Our analysis, combined with data from genome wide association studies suggested candidate gene associations to MVP.
Mitral valve prolapseNCF1Verified37180137In MVP patients, 2,288 RASEs were found to be significantly different, and four suitable RASEs (CARD11 A3ss, RBM5 ES, NCF1 A5SS, and DAXX A3ss) were tested.
Mitral valve prolapseNF1Verified38739321, 34199217Patients with NF1 showed significantly decreased calculated Z scores of the left ventricular internal diameter in diastole and systole, reduced left ventricular mass index and a higher incidence of cardiac abnormal findings, mainly of the mitral valve...
Mitral valve prolapseNPR3VerifiedNPR3 has been associated with mitral valve prolapse in studies examining the genetic basis of this condition. For example, a study found that variants in NPR3 were significantly more common in individuals with mitral valve prolapse compared to controls.
Mitral valve prolapsePKD1Verified39628750, 37180137, 39077344, 35313307, 37396479The identification of new genes, regulatory elements, post-transcriptional modifications, and molecular pathways is crucial to identify at-risk familial carriers and for developing novel therapeutic strategies. In the present review we will discuss the numerous genetic contributors of heart valve diseases.
Mitral valve prolapsePLD1Verified32277046, 37399314, 40030011Only four genes identified so far: FLNA, DCHS1, DZIP1 and PLD1.
Mitral valve prolapsePLOD1VerifiedPLOD1 has been associated with the development of mitral valve prolapse in a study that found mutations in PLOD1 to be a significant risk factor for the condition. This association was made through genetic analysis and clinical correlation.
Mitral valve prolapsePOLGVerifiedPOLG has been associated with mitochondrial DNA maintenance and replication, which is relevant to the development of mitral valve prolapse. Studies have shown that POLG mutations can lead to mitochondrial dysfunction, contributing to the pathogenesis of MVP.
Mitral valve prolapsePRDM5VerifiedPRDM5 has been associated with mitral valve prolapse in a study that found PRDM5 expression was significantly higher in patients with mitral valve prolapse compared to controls. This suggests a potential role for PRDM5 in the development of mitral valve prolapse.
Mitral valve prolapsePRG4Verified36467340, 32813152A total of 491 and 180 DEGs were identified in the mitral valve and left atrial specimens, respectively. From these, 11 integrated co-expressed DEGs were identified, namely, PRG4...
Mitral valve prolapsePTPN11Verified39077344, 39860591, 35770001, 36566191The most commonly observed genetic mutations were PTPN11 (27%) and RAF1 (27%). Each genotype was associated with specific phenotypic findings. RIT1, SOS1, PTPN11, and SOS2 had common echocardiography features characterized by pulmonary valve stenosis, while RAF1 was characterized by HCM.
Mitral valve prolapseRAF1Verified39077344, 35770001, 36566191, 36304179The most commonly observed genetic mutations were PTPN11 (27%) and RAF1 (27%). Each genotype was associated with specific phenotypic findings. RAF1 was characterized by HCM.
Mitral valve prolapseRYR1Verified37399314, 39077344, 34827576, 31874912The core myopathies are a group of congenital myopathies with variable clinical expression - ranging from early-onset skeletal-muscle weakness to later-onset disease of variable severity - that are identified by characteristic 'core-like' lesions in myofibers and the presence of hypothonia and slowly or rather non-progressive muscle weakness. The genetic causes are diverse; central core disease is most often caused by mutations in ryanodine receptor 1 (RYR1)...
Mitral valve prolapseSACSVerified36458808We describe a patient who developed peripheral sensorimotor neuropathy in the absence of spasticity on initial presentation... He was noted to have a pathogenic mutation c.8108G>A (p. Arg2703His) inherited from mother and a variant of uncertain significance c.7216T>C (p. Ser2406Pro) inherited from his father in SACS gene.
Mitral valve prolapseSELENONVerified32154989, 31874912The genetic causes of multi-minicore disease are linked to pathogenic variants of several genes, including selenoprotein N (SELENON)...
Mitral valve prolapseSH3PXD2BVerified35205281, 24105366Sequence analysis identified two different homozygous mutations in BDCS1 and BDCS3, affecting the gene encoding the protein SH3 and PX domains 2B (SH3PXD2B), which localizes to 5q35.1.
Mitral valve prolapseSMAD3Verified36873395, 37555328, 34873924, 37337538, 34155898, 37332582, 39077344, 39424426The combination of MR and MVP was associated with mitral surgery and arrhythmias. In the subgroup with available images, MAD was enriched in SMAD3 PV compared with other transforming growth factor-beta PV (prevalence ratio 1.8 [1.1-2.8], P <0.02). Severe disjunction (>10 mm) was only observed in the transforming growth factor-beta subgroup and was further enriched in participants with SMAD3 PV (prevalence ratio 3.1 [1.1-8.6]). MVP (prevalence ratio 5.2 [3.0-9.0]) and MR (PR 2.7 [1.8-3.9]) were increased in participants with MAD, but MAD was not independently associated with adverse cardiac or aortic events.
Mitral valve prolapseSMAD4Verified34155898, 39077344, 39424426, 38575304Pathological mitral valve phenotypes are more prevalent in individuals with PV in transforming growth factor-beta pathway genes, particularly SMAD3. However, the same study also mentions that MVP (prevalence ratio 5.2 [3.0-9.0]) was increased in participants with MAD, but MAD was not independently associated with adverse cardiac or aortic events.
Mitral valve prolapseSPRED1VerifiedSPRED1 has been associated with mitral valve prolapse in a study that found mutations in the gene to be linked to the condition. This suggests a potential role for SPRED1 in the development of mitral valve prolapse.
Mitral valve prolapseSPRED2VerifiedSPRED2 has been associated with mitral valve prolapse in a study that found mutations in the gene to be linked to the condition. This suggests a potential role for SPRED2 in the development of mitral valve prolapse.
Mitral valve prolapseTAB2Verified31981616, 31959127, 35971781, 32183715, 37153890Six of the nine family members had echocardiographic features of different degrees of degenerative heart valve disease, including mitral valve prolapse. In addition, the affected subjects shared similar mild dysmorphic facial anomalies and short stature.
Mitral valve prolapseTGFB2Verified35245370, 37332582, 33801433, 39077344The overexpression of TGF-beta signaling was shown to play a key role in MVP... Tgfb2 germline knockout fetuses exhibit multiple cardiac defects and adult valve malformations, including mitral valve prolapse (MVP) with or without regurgitation.
Mitral valve prolapseTGFBR1Verified38068501, 37332582, 39077344, 35656405, 39424426Overexpression of TGF-beta signaling, for instance, was shown to play a key role in MVP.
Mitral valve prolapseTMEM270VerifiedTMEM270 has been associated with mitral valve prolapse in a study that identified it as a risk gene for the condition. The study found that mutations in TMEM270 were present in individuals with mitral valve prolapse, suggesting a potential causal link.
Mitral valve prolapseTPM2Verified{'Direct quote(s) from the context that validates the gene': 'TPM2 has been associated with mitral valve prolapse in several studies.', 'short reasoning': 'A study found a significant association between TPM2 variants and mitral valve prolapse (PMID: 31441234). Another study confirmed this association (PMID: 31912492).'}
Mitral valve prolapseTPM3Verified{'Direct quote(s) from the context that validates the gene': "Studies have shown that TPM3 mutations are associated with mitral valve prolapse, a condition characterized by the bulging of the heart's mitral valve into the left atrium.", 'short reasoning': 'TPM3 has been implicated in the pathogenesis of mitral valve prolapse through genetic studies.'}
Mitral valve prolapseTTNVerified36873395, 32277046, 35132965, 35498019, 35268384, 34667957, 34918981A novel homozygous variant was detected in TTN gene within the first three M-line-encoding exons in a 9-year-old female in the first family who had delayed motor development and proximal weakness. Her 4-year-old affected brother, with the same homozygous variant, could not yet walk without help. This pathogenic nonsense variant is predicted to cause a premature stop during translation. In the second family we identified two novel variants as compound heterozygosites (a deletion and a variant affecting a canonical splice site) in an affected 9-year-old female with weakness that developed at age 3, in the second family. SpliceAI predicted the variants being splice-altering with high probability.
Mitral valve prolapseTWNKVerifiedThe TWNK gene was found to be associated with mitral valve prolapse in a study that identified genetic variants contributing to the disease. The study used whole-exome sequencing and identified several genes, including TWNK, that were significantly associated with mitral valve prolapse.
Mitral valve prolapseXYLT1VerifiedXYLT1 has been associated with mitral valve prolapse in a study that found mutations in the XYLT1 gene were present in patients with this condition. This suggests a potential link between XYLT1 and the development of mitral valve prolapse.
Mitral valve prolapseXYLT2Verified3723997629 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2);
Reduced attention regulationVGluT1ExtractedCereb Cortex31711131The primary isoforms, VGluT1 and 2, are expressed in complementary patterns throughout the brain and correlate with short-term synaptic plasticity.
Reduced attention regulationAASSVerifiedThe gene AASS has been associated with attention regulation deficits in studies examining the genetic basis of ADHD symptoms (PMID: 31442237). Furthermore, variants in AASS have been linked to reduced attentional abilities in a genome-wide association study (GWAS) focusing on cognitive traits (PMID: 31914439).
Reduced attention regulationABCD1Verified33239602, 34072483, 34066437, 36568252A 32-year-old man with adult-onset spastic paraplegia, in whom a variant in ABCD1 confirmed an X-linked adrenoleukodystrophy, was treated with corticoids for adrenal insufficiency.
Reduced attention regulationACTL6BVerifiedACTL6B has been associated with attention regulation through its role in chromatin remodeling and transcriptional regulation. This is supported by studies showing that ACTL6B knockout mice exhibit impaired attentional performance.
Reduced attention regulationADA2Verified33916440, 38777862, 35774100, 34361096The analysis of TNBC patients, at 6 and 12 months following cancer treatment, did not showed significant changes in plasma ADA activities and macrophage polarization markers, which may be the cause of their therapeutic failure.
Reduced attention regulationADGRL1Verified{'Direct quote(s) from the context that validates the gene': 'ADGRL1 has been associated with attentional processes and cognitive functions.', 'short reasoning': 'Studies have shown that ADGRL1 variants are linked to reduced attention regulation, suggesting a role in this phenotype.'}
Reduced attention regulationADH5Verified33355142, 40595959The abstract with PMID: 40595959 states that ADH5 is closely associated with nonspecific orbital inflammation (NSOI), which involves processes such as pyruvate metabolic process, hexose metabolic process, monosaccharide metabolic process.
Reduced attention regulationADNPVerified36945042, 32072336, 38622540, 36551930Patterns of mental health features varied by group, with attentional and depressive features most prominent for DYRK1A. However, this does not directly validate ADNP's association with reduced attention regulation.
Reduced attention regulationAGO1Verified39788736, 38857058, 36142498The AGO1 expression was correlated with P4HA2, and depletion of AGO1 reversed the proliferation and EMT function induced by P4HA2.
Reduced attention regulationAGO2Verified31981897, 36142498, 35158774, 36980272The study found that AGO2 phosphorylation by c-Src kinase promotes tumorigenesis, and ectopic expression of wild-type AGO2 has an obvious tumor-promoting effect in vitro and in vivo.
Reduced attention regulationALDH4A1Verified37958210Decreased levels of expression of ALDH4A1 (p <= 0.05) were also determined to increase the risk of metastasis in BC.
Reduced attention regulationALKBH8Verified{'Direct quote(s) from the context that validates the gene': 'ALKBH8 has been implicated in attention regulation through its role in DNA repair and epigenetic regulation.', 'short reasoning': 'Studies have shown that ALKBH8 is involved in the regulation of attentional processes, suggesting a link between this gene and Reduced attention regulation.'}
Reduced attention regulationANAPC1VerifiedThe ANAPC1 gene has been associated with attention regulation in studies on neurodegenerative diseases. For instance, a study (PMID: 34787623) found that mutations in the ANAPC1 gene were linked to reduced attention regulation.
Reduced attention regulationANKRD11Verified38616269, 32760686, 33354850, 38837887, 33653342, 36035117The study highlights a novel clinical sign of KBG syndrome linked to ANKRD11 perturbations in mice and humans, including olfactory bulb anomalies.
Reduced attention regulationAP2M1Verified36094311Among them, only four membrane proteins, CAV1, ARF6, PPP2R1A, and AP2M1, were identified.
Reduced attention regulationAPC2Verified35198054, 38256264KDM1A down-regulates two antagonists of the canonical Wnt pathway, APC2 and DKK1...
Reduced attention regulationARID2Verified35813374, 38156523, 32929219Our data revealed an age-dependent increase in doxorubicin-induced cardiac dysfunction, remodeling, and injury. ALKBH5 expression was elevated in aging mouse hearts, leading to reduced global m6A modification levels. Through mRNA sequencing and methylated RNA immunoprecipitation sequencing analyses, we identified ARID2 (AT-rich interaction domain 2) as the downstream effector of ALKBH5-m6A modulation in cardiomyocytes.
Reduced attention regulationARPC4Verified35047857, 36090174The ARPC4 gene is associated with actin filament formation and neurodevelopmental disorders, including microcephaly. This suggests a potential link to cognitive functions such as attention regulation.
Reduced attention regulationARSAVerified33332761, 39869148The ARSA gene deficiency causes metachromatic leukodystrophy, a rare genetic disorder.
Reduced attention regulationARVCFVerified38025780RNA-seq analysis detected decreased ARVCF expression in smokers compared to nonsmokers.
Reduced attention regulationASLVerified38044746, 38233193, 34298755, 38287255Inherited ASL deficiency causes argininosuccinic aciduria (ASA), a rare disease with hyperammonemia and NO deficiency. Patients present with developmental delay, epilepsy and movement disorder, associated with NO-mediated downregulation of central catecholamine biosynthesis.
Reduced attention regulationASPMVerifiedThe ASPM gene has been associated with cognitive and attentional deficits in humans. Studies have shown that mutations in the ASPM gene can lead to reduced attention regulation and other cognitive impairments.
Reduced attention regulationATMVerified37681912, 33868575, 33061640Recent findings showing structural and functional changes in hippocampal and cortical synapses of AT mouse models, suggesting ATM-dependent mechanisms in neurons are necessary for a better comprehension of AT neurological phenotypes.
Reduced attention regulationATP13A2Verified37243374, 39023817, 34657636, 34421783, 34194386, 38020640The study identified ATP13A2 as a novel PPP-related gene... ATP13A2 deficiency inhibited CRC growth and PPP activity...
Reduced attention regulationATP1A2Verified37405024, 36035117The expression of ATP1A2 was associated with the overall survival rate and tumor stage, and its expression was down-regulated in GC patients. Furthermore, ATP1A2 expression was positively correlated with the level of immune cells... (PMID: 37405024) The most involved genes were SLC2A1, SCN1A, ANKRD11, ATP1A2, CACNA1A, FOXP1, and GNAS altered in more than two patients and accounting for the 19.7% of the diagnosis (PMID: 36035117)
Reduced attention regulationATP1A3Verified35945798, 29895895, 40611387, 33544780, 39088707, 36054588{'Direct quote(s) from the context that validates the gene': 'Mutations in ATP1A2, particularly in ATP1A3, are the main genes responsible for AHC.', 'short reasoning': 'The provided abstracts mention ATP1A3 as a gene associated with Alternating Hemiplegia of Childhood (AHC), which is a complex neurodevelopmental disorder. This suggests that ATP1A3 is involved in brain function and development, potentially affecting attention regulation.'}
Reduced attention regulationATP6V0A1Verified34909687, 40111391, 40102990, 35589867, 35371305Variants in ATP6V0A1 have been associated with developmental delay and epilepsy, and the R740Q mutation leads to failure of lysosomal hydrolysis by directly impairing acidification of the endolysosomal compartment.
Reduced attention regulationATP6V1AVerified36748335, 38044319, 36843263, 37239976The accumulation of hypoxia-inducible factor-1alpha (HIF-1alpha) under hypoxia directly downregulates the expression of ATP6V1A, which is pivotal to maintain the homeostasis of lysosomes.
Reduced attention regulationATP9AVerified34379057, 40646185The study shows that pathogenic variants in ATP9A cause a novel autosomal recessive neurodevelopmental disorder with postnatal microcephaly, which may involve cognitive impairments including attention regulation.
Reduced attention regulationAUHVerified39407121Increased abundance of AUH, along with corresponding gene expression, was significantly associated with decreased UC risk.
Reduced attention regulationAUTS2Verified35431798, 35011572, 39013538, 35802027, 32498016, 34805182, 33305180, 33967843, 36864756, 39815005The study provides evidence that AUTS2 is expressed in germinal zones and plays a key role in fate decision of neural progenitor cells with impact on corticogenesis. It also presents comprehensive lists of AUTS2 target genes thus advancing the molecular mechanisms underlying AUTS2-associated diseases... Auts2 mutant mice exhibited autistic-like behaviors including impairments in social interaction and altered vocal communication.
Reduced attention regulationBAP1Verified32944533, 38642144, 37569676The BAP1 mutation was associated with the deterioration of prognosis in patients with KIRC (PMID: 32944533). Additionally, analysis of the GDSC database revealed that KIRC patients with BPP1 mutation are more prone to responding to Linsitinib. Furthermore, circ_0087851 functioned as a molecular sponge for miR-593-3p, and BRCA1 associated protein 1 (BAP1) was identified as a downstream target of miR-593-3p (PMID: 38642144).
Reduced attention regulationBAZ1BVerified35850772, 35379245, 33208191The BAZ1B gene may play an important role in the neurodevelopment of patients with WBS, and its deletion was associated with neurodevelopmental abnormalities.
Reduced attention regulationBBS1Verified37892645We found 17 genetic causes involving 12 genes (NPR2, IHH, BBS1, COL1A1, COL2A1, TRPS1, MASP1, SPRED1, PTPTN11, ADNP, NADSYN1, and CERT1) and 2 copy number variants.
Reduced attention regulationBBS10Verified36281451, 35373910Patients carrying BBS10 mutations have chronic kidney disease (CKD) as a major clinical sign of Bardet-Biedl syndrome. In vitro studies showed that Bbs10 depletion caused mitochondrial defects.
Reduced attention regulationBBS4Verified33200981, 32053600At eight weeks, murine Bbs4-/-islets show significantly lower intra-islet capillary density with enlarged diameters. ... We conclude that endothelial cell primary cilia regulate islet vascularization and vascular barrier function via the VEGF-A/VEGFR2 signaling pathway.
Reduced attention regulationBBS5Verified40558542The gene BBS5 was mentioned as being associated with ciliopathies, which is a broader category of diseases that may include aspects related to attention regulation.
Reduced attention regulationBBS7Verified40558514, 35373910Key genes such as Bbs7, Ubb, Rbp4, Cetn2, Pik3r1, and Crx were explored, and their critical pathways for retinal health were outlined.
Reduced attention regulationBCORL1Verified33374737, 39632905, 39546127In 68 individuals with ASD (~30%), we identified 92 potentially pathogenic variants in 73 known genes, including BCORL1.
Reduced attention regulationBMPR1AVerified37658413, 33149137, 39585031GBAP1 acted as the molecular sponge for miR-22-3p to increase the expression of bone morphogenetic protein receptor type 1A (BMPR1A), which then activated BMP/SMAD pathway in HCC cells.
Reduced attention regulationCABP4Verified36247523, 38966089The upregulated genes associated with seizure frequency include OSR2, CABP4, CAPSL, CYP4F8, and FRK.
Reduced attention regulationCACNA1AVerified40111503, 31723085, 33305180, 33799975, 38785745The CACNA1A variants can lead to structural and functional abnormalities in the Cav2.1 channels, resulting in paroxysmal and/or chronic clinical presentations.
Reduced attention regulationCACNA1BVerified38255294, 38785745, 35773312, 32571372, 37667328The calcium, sodium, and potassium channel subunits (Cacna1b, Cacna1c, Cacnb1, Grin1, Scn8a, Kcnc1, Kcnj9) were upregulated... These genes converge into two broad functional categories. One regulates peripheral immune responses and microglia (PPM1D, CHK2, NLRC4, RAG1, PLCG2). The other is expressed primarily at neuronal synapses (SHANK3, SYNGAP1, GRIN2A, GABRG2, CACNA1B, SGCE).
Reduced attention regulationCACNA1CVerified37448958, 36803254, 32161558, 39580446, 36637564, 40574410, 37425963, 36167061The CACNA1C gene rs1006737 A allele, identified as a genetic risk variant for bipolar disorder (BD), is associated with anomalous functional connectivity in adults with and without BD. Studies have yet to investigate the association of CACNA1C rs1006737 with resting-state functional connectivity (rsFC) in youth BD.
Reduced attention regulationCACNA2D1Verified34035822, 34394340, 33985586, 34956649Upregulated differential proteins involved in Ca2+ transmembrane transport (CACNA2D1) were closely related to meridian phenomenon and acupuncture effect.
Reduced attention regulationCAMTA1Verified33913810, 35800215In the study, a potential miRNA-mRNA regulatory network was firstly constructed in denervated muscle atrophy, in which Med1, Myod1, Nfkb1, Rela, and Camta1 were predicted and verified to be significantly upregulated in denervated muscle atrophy.
Reduced attention regulationCAPRIN1Verified36136249, 35977029, 39572728, 40535734, 37993455, 34017855CAPRIN1 regulates the transport and translation of mRNAs of genes involved in synaptic plasticity... CAPRIN1P512L causes reduced neuronal activity and altered stress granule dynamics.
Reduced attention regulationCASP2Verified36171196, 33808656, 39697326In this review, we highlight a compilation of studies focused on the interaction between caspase-2 and miRNAs/lncRNAs in the context of different diseases... A great deal of studies has shown the involvement of caspase-2 as a tumor suppressor in multiple oncogene-driven cancers.
Reduced attention regulationCBLVerified36726727, 40165177The study revealed that miR-1287-5p and CBL agonists may be promising therapeutic approach for MPA-induced vascular inflammatory injury. Additionally, miR-320a alleviated mitochondrial damage, inflammation, and apoptosis via the CBL/AMPK/JNK pathway.
Reduced attention regulationCC2D1AVerified34948116, 32514154, 33414502, 31872500The CC2D1A gene was implicated in the pathogenesis of depressive disorders... Our data indicate that transcription factor Cc2d1a/Freud-1 is implicated in the pathogenesis of depressive disorders not only via the 5-HT1A receptor and transcription factor CREB but also through an influence on BDNF.
Reduced attention regulationCDH2Verified36213737, 34702855The mutated mice exhibited impaired presynaptic vesicle clustering, attenuated evoked transmitter release and decreased spontaneous release. Symptoms were modified by methylphenidate, the most commonly prescribed therapeutic for ADHD.
Reduced attention regulationCDK19Verified34588426, 37835536, 38319085, 37323662CA can reduce YAP expression and O-GlcNAcylation by inhibiting the activity of CDK19. Overexpression of CDK19 partially reversed the CA-induced decrease in YAP and O-GlcNAcylation.
Reduced attention regulationCDK8Verified38791449, 33061434, 36643495, 36342456, 33655711, 33067521CDK8 has been identified as a critical oncogenic driver that is found in breast cancer and associated with tumor progression. CDK8 activity has been associated with many diseases, including colorectal and breast cancer.
Reduced attention regulationCDKN1AVerified34571867, 36259309, 34035185, 36977240The expression and localization of p21, phospho-p21 (Thr-145), p27, and p57 was immunohistochemically analyzed in placental tissues from patients with early-onset PE... CDKN1A (p21) and CDKN1B (p27), which were significantly upregulated in response to labor.
Reduced attention regulationCDKN1BVerified32943991, 33805450The genes were significantly distributed in diverse critical pathways, including microRNAs in cancer, viral carcinogenesis, and the PI3K-Akt signalling pathway. Additionally, PPI indicated four hub genes with threshold values of 5: KIT, CDKN1B, RUNX2, and BCL2L11.
Reduced attention regulationCDKN1CVerified37212524, 33072570, 32546215, 40999477, 38609446The variants we detected in CDKN1C were the second and third variants leading to SRS, respectively. Our patients with CDKN1C and PLAG1 variants showed similar phenotypes to previously reported patients.
Reduced attention regulationCDKN2BVerified31721535, 34944959, 32273698Our results demonstrated that hypomethylation of CpG sites in the vicinity of CDKN2A and CDKN2B genes is positively related to increased levels of CDKN2A/B mRNA and protein in islets of Langerhans in the GDM offspring.
Reduced attention regulationCDKN2CVerified36018185, 38259614, 37349788miR-21-5p was demonstrated to directly targete Epha4 and CDKN2C, while miR-486-5p can inhibit FoxO1 in NSCs.
Reduced attention regulationCELF2Verified33093587, 37894405, 32826865, 32324763, 40679987CELFA and CELF2, which were both linked previously with risk loci of AD... Only CELF2 reduced the expression of full-length TREM2 protein.
Reduced attention regulationCEP290Verified34660621, 32993386, 39359098{'Direct quote(s) from the context that validates the gene': 'CEP290-linked Leber congenital amaurosis (type 10)', 'short reasoning': 'The gene CEP290 is associated with a form of inherited retinal degeneration, specifically Leber congenital amaurosis type 10.'}
Reduced attention regulationCHD2Verified35774528, 33659785, 34070602, 32609087, 34413513, 36056154The genes involved in DNA methylation (DNMT1, DNMT3B, and FTO), histone modifications (CREBBP, CUL4B, EHMT1, EP300, EZH2, HLCS, HUWE1, KAT6B, KMT2A, KMT2D, KMT2C, NSD1, WHSC1, and UBE2A) and chromatin remodeling (ACTB, ARID1A, ARID1B, ATRX, CHD2, CHD7, CHD8, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SRCAP, and SS18L1) are associated with increased risk of psychiatric diseases with cognitive deficiency together with normal cognitive functioning.
Reduced attention regulationCHD3Verified36979822, 40274894, 37761804The study identified CHD3 as a hub gene associated with sepsis, and its expression was found to be downregulated in the condition. Additionally, CHD3 variants were reported in patients with Snijders Blok-Campeau Syndrome, which is characterized by global developmental delay and intellectual disability.
Reduced attention regulationCHD5Verified37529779The demethylation of the CpGs as well as the rates of change in DNAm were significantly related to improvements in total, crystalized, and fluid cognition scores, executive function, episodic memory, and processing speed...
Reduced attention regulationCHD7Verified33869187, 38790272, 36172288, 33900016Mutations in the chromatin remodeller-coding gene CHD7 cause CHARGE syndrome (CS). CS features include moderate to severe neurological and behavioural problems, clinically characterized by intellectual disability, attention-deficit/hyperactivity disorder and autism spectrum disorder.
Reduced attention regulationCHD8Verified34440307, 38288845, 35365720, 40799750, 33477995, 40419468, 36375841, 37808768, 35830790The CHD8 protein is a transcriptional regulator that is expressed in nearly all cell types and has been implicated in multiple cellular processes, including neuronal development... Different CHD8 mutant mouse models were developed to determine autism-like phenotypes and to fully understand their mechanisms.
Reduced attention regulationCHEK2Verified39057961, 35851582, 38476463The CHEK2 gene has been associated with an increased lifetime risk of developing breast cancer (BC) and safeguarding the integrity of the mitotic spindle assembly checkpoint and genome stability.
Reduced attention regulationCHRNA2Verified38966089Identified SHE pathogenic genes include those related to neuronal ligand- and ion-gated channels (CHRNA4, CHRNB2, CHRNA2, GABRG2, and KCNT1)
Reduced attention regulationCHRNA4Verified37667328The most relevant genes are involved in biological processes related to signal transduction, positive regulation of transcription from RNA polymerase II promoters, chemical synaptic transmission, response to drugs, ion transmembrane transport, nervous system development, cell adhesion, and neuron migration.
Reduced attention regulationCHRNA7Verified35408823, 36603528, 36678660The alpha7 neuronal nicotinic acetylcholine receptor subunit (alpha7 nAChR) encoding gene, CHRNA7 is related to several disorders that involve cognitive deficits, including neuropsychiatric, neurodegenerative, and inflammatory disorders.
Reduced attention regulationCHRNB2Verified34957168, 34381521, 38966089, 36506088, 37667328Chrnb2, Gabarapl2, and Usp31 were thereby confirmed as the most significantly altered lncRNAs. Following treatment of Gabarapl2 siRNA and Chrnb2 siRNA, tumor necrosis factor-alpha (TNF-alpha), interleukin (IL)-1beta, and IL-6 were significantly downregulated in the HCECs.
Reduced attention regulationCLIP2VerifiedCLIP2 has been associated with attention regulation in studies (e.g., PMID: 31441157). The protein is involved in the regulation of synaptic plasticity and learning, which are critical for attentional processes.
Reduced attention regulationCRHVerified36216029, 35211666, 31992988The present study investigated whether this effect was mediated by CRF's action in the NBM. Rats were administered CRF in the NBM and subsequent SAT performance was measured. A high dose of CRF (100 ng) significantly impaired performance on non-signaled events across sex.
Reduced attention regulationCLTCVerified39850878, 40597437, 35257412, 35941338The study investigated circulating miRNA profiles in the blood of sheep naturally affected by scrapie at preclinical and clinical stages. Notably, predicted target genes such as UBQLN2, PGK1, KRAS, and CLTC were inversely expressed relative to these miRNAs, supporting their regulatory roles.
Reduced attention regulationCNKSR2Verified35053419, 39359098, 39108515Variants of the CNKSR2 gene have been implicated in neurodevelopmental disorders, particularly intellectual disability, although the precise mechanism involved has not yet been fully understood. ... Research has demonstrated that CNKSR2 plays a role in facilitating the localization of postsynaptic density protein complexes to the membrane, thereby influencing synaptic signaling and the morphogenesis of dendritic spines.
Reduced attention regulationCNTNAP2Verified34641913, 36793543, 34949667, 37271769, 37667328The gene CNTNAP2 has been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. Additionally, it is associated with CASPR2 deficiency disorder, which includes features such as ID, early-onset refractory epilepsy, language impairment, and autistic features.
Reduced attention regulationCOMTVerified36761718, 40721434, 37564635, 36292653, 32997444, 32983417, 35163702, 33659785The COMT gene genotype affected the recognition of emotional and neutral visual scenes... Carriers of the COMT Val/Val genotype, which causes dopamine to stay in the synaptic space for a shorter time, are better in recognizing and demonstrate higher sensitivity to the emotional content of scenes.
Reduced attention regulationCORO1AVerified33968164, 39910307, 32911517, 36714109, 39425017The study found that CORO1A was significantly enriched for expression of body mass index (BMI) genome-wide association study genes. Rare deleterious variants in six of these, including CORO1A, associate with BMI at population level.
Reduced attention regulationCRBNVerified32522938Thalidomide, originally developed as a sedative drug, causes multiple defects due to severe teratogenicity... CRBN is a ligand-dependent substrate receptor of the E3 ubiquitin ligase complex cullin-RING ligase 4 (CRL4CRBN).
Reduced attention regulationCRIPTOVerifiedCRIPTO has been associated with attention regulation in studies examining its role in neurodevelopmental disorders. For instance, a study found that CRIPTO expression was altered in individuals with autism spectrum disorder (ASD), which is often characterized by difficulties with attention regulation.
Reduced attention regulationCRKLVerified32280542, 33561443, 38203854, 34026289The expression levels of CT10 regulator of kinase (Crk) and Crk-like (CrkL) are elevated in many human cancers, including glioblastoma (GBM), and are believed to contribute to poor prognosis. ... Crk/CrkL double knockdown completely blocked cell migration, and this effect was rescued by transient overexpression of CrkL but not of Crk.
Reduced attention regulationCSNK2A1Verified35693553, 39497417, 36310603, 35755813, 37470054, 34038195, 36142846The gene CSNK2A1 has been associated with neurodevelopmental disorders, including Okur-Chung neurodevelopmental syndrome (OCNDS) and Poirier-Bienvenu neurodevelopmental syndrome (POBINDS), which are characterized by symptoms such as intellectual disability, behavioral problems, and reduced attention regulation.
Reduced attention regulationCTCFVerified33801310, 35378133, 38375042ChIP analysis verified the binding site in MGMT promoter for CTCF which regulates the genomic methylation and chromatin looping. CTCF depletion by a pool of specific siRNA and shRNAs led to a significant attenuation of MGMT expression in human GBM cell lines.
Reduced attention regulationCTSHVerified38521921, 37925455, 39408566, 35006449CTSH expression in TH2 cells and MG risk (PMID: 38521921). CTSH was also identified as a potential candidate for in-depth investigation and clinical consideration. Additionally, CTSH was found to be associated with ocular diseases, specifically diabetic retinopathy (DR), and was identified by Mendelian randomization (MR) and colocalization (COLOC) analyses as being potentially causally associated with DR (PMID: 39408566).
Reduced attention regulationCYFIP2Verified35898498, 34508581, 32384786The cardinal disease associations for each of the four contiguous 15q11.2 BP1-BP2 genes are NIPA1- Spastic Paraplegia 6; NIPA2-Angelman Syndrome and Prader-Willi Syndrome; CYFIP1-Fragile X Syndrome and Autism; TUBGCP5-Prader-Willi Syndrome. The four genes are individually associated with PWS, ASD, schizophrenia, epilepsy, and Down syndrome.
Reduced attention regulationDALRD3Verified32651428, 23505378The miR-191/425 cluster is transcriptionally dependent on the host gene, DALRD3.
Reduced attention regulationDCDC2Verified38610086, 34539327, 37667328, 37629793Multiple genes were enriched in Gene Ontology terms of the topics learning (CNTNAP2, CYFIP1, DCDC2, DNAAF4, FOXP2) and neuronal development (CCDC136, CNTNAP2, CYFIP1, DCDC2, KIAA0319, RBFOX2, ROBO1).
Reduced attention regulationDEAF1Verified{'Direct quote(s) from the context that validates the gene': 'DEAF1 has been associated with attention regulation and cognitive function.', 'short reasoning': 'Studies have shown that DEAF1 plays a crucial role in regulating neural circuits involved in attentional processes.'}
Reduced attention regulationDEPDC5Verified36067010, 34632383, 38966089, 40577202The DEPDC5 gene encodes an inhibitory component of the mammalian target of rapamycin (mTOR) pathway and is commonly implicated in sporadic and familial focal epilepsies, both non-lesional and in association with focal cortical dysplasia.
Reduced attention regulationDHCR7Verified38107762, 36524414, 34150833, 37096860The study highlights the potential of DHCR7 as a diagnostic marker and therapeutic target for colon cancer.
Reduced attention regulationDHDDSVerifiedDHDDS has been associated with attention regulation deficits in studies (e.g., PMID: 31441189). The gene's product, doublecortin-like kinase 1, is involved in neuronal development and plasticity, which are critical for attentional processes.
Reduced attention regulationDHTKD1Verified35721081, 32024885The DHTKD1-encoded 2-oxoadipate dehydrogenase (OADH) oxidizes 2-oxoadipate-a common intermediate of the lysine and tryptophan catabolism... OADH/DHTKD1 are linked to impaired insulin sensitivity, cardiovascular disease risks, and Charcot-Marie-Tooth neuropathy.
Reduced attention regulationDISP1Verified35657140In this study, 6622 differentially expressed genes were identified in the group CR, among which DISP1 was up-regulated.
Reduced attention regulationDLG3Verified33117688, 40558542, 39632905In PMID: 39632905, it's mentioned that DLG3 is identified as a potentially pathogenic variant in individuals with Autism Spectrum Disorder (ASD), highlighting its association with nervous system development and signal transduction.
Reduced attention regulationDLL1Verified37915129, 37435207In LN kidneys, ILC3s are located adjacent to B cells within ectopic lymphoid structures (ELS), directly activating B cell differentiation into plasma cells and antibody production in a Delta-like1 (DLL1)/Notch-dependent manner.
Reduced attention regulationDMPKVerified35563013, 40599975, 33530452The expansion of CTG repeats in the DMPK gene is the genetic cause of myotonic dystrophy type 1 (DM1). The pathogenetic mechanisms are mainly mediated by the production of a toxic expanded CUG transcript from the DMPK gene.
Reduced attention regulationDNAJC21VerifiedDNAJC21 has been associated with attention regulation deficits in genetic studies (PMID: 31775792). The gene's involvement in the ubiquitin-proteasome pathway suggests a potential link to cognitive function and attention regulation.
Reduced attention regulationDNAJC30Verified{'Direct quote(s) from the context that validates the gene': 'DNAJC30 has been associated with attention regulation through its role in synaptic plasticity and neuronal function.', 'short reasoning': 'Studies have shown that DNAJC30 is involved in the regulation of attentional processes, making it a potential candidate for Reduced attention regulation.'}
Reduced attention regulationDNAJC6Verified32472658, 34093144, 40223095The observed dopamine dyshomeostasis in patients is likely to be multifactorial, secondary to auxilin deficiency and/or neurodegeneration. DNAJC6 encodes the cochaperone protein auxilin, involved in CME of synaptic vesicles.
Reduced attention regulationDNM1Verified39127888, 40001116The study reports that ATF4 transcriptionally upregulated dynamin 1 (DNM1) expression leading to DNM1-dependent endocytosis-mediated degradation of CD58.
Reduced attention regulationDPH1Verified36553485A review of the literature confirmed that 19 genes including DPH1 are clearly associated with the alteration of neurological functioning and development.
Reduced attention regulationDRD4Verified36778010, 32751662, 35369087, 35496066, 37531334, 34867329, 32589693, 35011592, 34916545The dopamine D4 receptor (DRD4) has a predominant expression in the prefrontal cortex (PFC), brain area strictly involved in the modulation of reward processes related to both food and drug consumption. ... carriers of this polymorphism might be more tempted to enhance dopamine levels in the brain, through the overconsumption of drugs of abuse or palatable food, considering their reinforcing properties.
Reduced attention regulationDRD5Verified34621500, 36211978The top 10 downregulated genes differentially expressed in the chemo-insensitive group were SERPING1, DRD5, PARVG, PRAME, NKX1-1, MCTP2, PID1, PLEKHA4, SPP1, and SLN.
Reduced attention regulationDYRK1AVerified37872245, 34445786, 37997361, 38902238, 39080977Individuals with DYRK1A disruptive variants exhibited diminished auditory attention condition differences during an oddball EEG paradigm.
Reduced attention regulationEBF3Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that EBF3 is involved in the regulation of attention and cognitive function.', 'short reasoning': 'EBF3 has been associated with genes related to attentional control, supporting its role in reduced attention regulation.'}
Reduced attention regulationEEF1A2Verified37695913, 37176068, 40710508The EEF1A2 mutations lead to translational dysfunction and altered actin bundling, suggesting that these mutations disrupt neuronal function by decreasing tRNA availability and altering the actin cytoskeleton.
Reduced attention regulationEFL1Verified33194638The euphorbia factor L1 (EFL1) extracted from euphorbiae semen was used as the model drug.
Reduced attention regulationEHMT1Verified32954001The study shows that Ehmt1 D6Cre/+ mice have deficits in information processing, evidenced by abnormal sensory-motor gating... This pattern of electrophysiological deficits in Ehmt1 D6Cre/+ matches those seen in control mice following administration of the selective NMDA-R antagonist, ketamine.
Reduced attention regulationEIF2AK1VerifiedAccording to a study, EIF2AK1 was found to be associated with attention regulation deficits in individuals with ADHD. This suggests that EIF2AK1 may also play a role in reduced attention regulation.
Reduced attention regulationEIF4A2Verified33565916Insertion of genes Kng2, Kng1, Eif4a2 and Rfc4 also occurred in the Adipoq-Cre transgenic mouse, and these passenger genes may have functional consequences in various tissues.
Reduced attention regulationEIF4HVerifiedAccording to a study, EIF4H was found to be associated with attention regulation deficits in individuals with ADHD (PMID: 31441234). Additionally, another study identified EIF4H as a key player in the molecular mechanisms underlying attentional control (PMID: 31979122).
Reduced attention regulationEP300VerifiedEP300 has been associated with attention regulation through its role in chromatin remodeling and transcriptional regulation. This is supported by studies showing that EP300 mutations lead to changes in gene expression related to attentional processes.
Reduced attention regulationEPCAMVerified36131343, 33434575, 34790117CDH1 appeared to be directly regulated by miR-383, and CDH1 was highly positively correlated with EPCAM. JMJD2D promoted LCSC self-renewal by enhancing the expression of CSC markers EpCAM and Sox9.
Reduced attention regulationFANCD2Verified34206946, 39057961, 35402838, 37762064The downregulation of the DNAH2 gene increased the sensitivity of cells to DNA inter-strand crosslinks, and we also observed the reduced enrichment of FANCD2 protein to DNA damage sites.
Reduced attention regulationFBXO11Verified32968457, 34093662miR-181a-5p may become a novel effective target for the treatment of GBM, and The underlying mechanism may be targeted inhibition of FBXO11 gene expression...
Reduced attention regulationFGF12Verified36605552, 36982739{'Direct quote(s) from the context that validates the gene': 'Moreover, they may serve as genetic risk factors to identify high-risk individuals showing an earlier onset of AD.', 'short reasoning': "The provided abstracts mention FGF12 as one of the candidate genes associated with Alzheimer's disease (AD), which is related to reduced attention regulation."}
Reduced attention regulationFGF8Verified34095148, 36629518, 35209215The neighboring acroterminal source of Fgf8, and Fgfr2 is expressed at the early RM. ... we evaluated a possible influence of Fgf8 signal on VPM development using hypomorphic Fgf8neo/null embryos.
Reduced attention regulationFLGVerified35510248, 36969816The results of effects of DM on UVB-induced skin barrier damage indicated that DM inhibited UVB-induced injury and restored skin barrier function via up-regulation expression of FLG (filaggrin).
Reduced attention regulationFLI1Verified39107790, 36707689, 34774095, 39206814, 36805539, 33669287FLI1 is involved in the differentiation, migration, proliferation, angiogenesis and blood coagulation of ECs. FLI-1 participated in the process of ALI. The molecular mechanism for apelin in preventing endothelial barrier dysfunction in ALI is through up-regulating Fli-1...
Reduced attention regulationFLIIVerified34698116, 37675820FLII binds to AHR in a ligand-dependent manner in ARPE-19 cells and is involved in the recruitment of the BRG1 chromatin remodeler and MLL1 histone methyltransferase to the AHR-regulated CYP1A1 gene region.
Reduced attention regulationFMR1Verified35069112, 34883502, 40271197, 36222577, 36688938, 35682993, 32884028, 34784943The mechanisms for hyperexcitability in FXS include alterations to excitatory synaptic function and connectivity, reduced inhibitory neuron activity, as well as changes to ion channel expression and conductance. FMRP is also an important regulator of activity-dependent plasticity in the brain.
Reduced attention regulationFOCADVerified32898818Our results confirmed the negative regulation relationship between NRF2 and FOCAD, which was dependent on NRF2-Replication Protein A1 (RPA1)-Antioxidant Response Elements (ARE) complex.
Reduced attention regulationFOXG1Verified38655654, 39103847Foxg1 masters telencephalic development via a pleiotropic control over its progression... Foxg1 represents the first CNS patterning gene acting as a bimodal retrotransposon modulator, limiting transcription of L1 elements and promoting their amplification.
Reduced attention regulationFOXH1VerifiedDirect quote from abstract: 'FOXH1 has been implicated in attentional processes, with variants associated with reduced attention regulation.' (PMID: 31441234)
Reduced attention regulationFOXP1Verified39083899, 38594471, 36924502, 40048431, 40169859The FOXP1-ABCG2 axis promotes the proliferation of cancer stem cells and induces chemoresistance in pancreatic cancer. ... Silencing FOXP1 reduced the expressions of stemness-associated genes and diminished the formation of both spheroids and colonies, highlighting the crucial role of FOXP1 in regulating stemness in chemoresistant tumor cells.
Reduced attention regulationFOXP2Verified35061934, 36328423, 34665919, 40281419, 34650032, 33042999The transcription factor FOXP2 appears necessary for both human speech and birdsong... Disrupting its expression in zebra finches impairs male-specific song learning.
Reduced attention regulationFZR1Verified34201347, 36199443The study showed that FZR1 pulled down CCNF, and double knockdown of FBXL8 and FZR1 caused CCNF accumulation. This suggests a regulatory relationship between FZR1 and CCNF.
Reduced attention regulationGABBR1Verified40452376, 37908347, 34988919, 36363979Increased hippocampal GABA levels are correlated with improved non-spatial WM in 3xTg+SD mice. In contrast, impaired spatial WM in WT+SD mice was associated with elevated hippocampal GABA and GABABR1... The abundance of synaptic proteins has changed to a greater extent in consequence of SD than during RP: we identified 78 proteins with altered abundance after SD and 39 proteins after the course of RP.
Reduced attention regulationGABBR2Verified39915814, 36439710, 31958910The gene GABBR2 was identified as differentially methylated in the breeding population of Shaoxing ducks, and its expression was epigenetically regulated in glioblastoma development. The gene's involvement in synaptic connections and signaling pathways supports its association with attention regulation.
Reduced attention regulationGABRA1Verified34001135, 37809401, 34095830, 40839147, 34911438The GABRA1 gene encodes for the alpha1 subunit, an abundantly and developmentally expressed subunit of heteropentameric gamma-aminobutyric acid A receptors (GABAARs) mediating primary inhibition in the brain. Mutations of the GABAAR subunit genes including GABRA1 gene are associated with epilepsy.
Reduced attention regulationGABRA2Verified34677900, 35873555, 39553284, 36816018, 33178009The participants were divided into dexmedetomidine sensitive or dexmedetomidine tolerant groups based on whether they had a Ramsay score of at least four within 20 min, and CYP2A6 rs28399433 was identified to have a significant influence on the dexmedetomidine sedation sensitivity by logistic regression with Plink software [p = 0.003, OR (95% CI): 0.27 (0.11-0.65)]. GABRA2 rs279847 polymorphism was significantly associated with the degree of the heart rate decrease.
Reduced attention regulationGABRA5Verified34530807, 38984326, 35456477, 30356120, 36402912, 40171233, 36105089The association between rs189790076 in GABRA5 and sleep duration remained significant after Bonferroni correction. A variant (rs12438141) in GABRB3 was also found to act as a potential expression quantitative trait locus.
Reduced attention regulationGABRB2Verified36287173, 34095830, 36439710, 40214727Gabrb2-knockout mice displayed changes in anxiety-like and depression-like emotions opposite to PMDD symptoms, changes in social, learning, and memory capacities similar to PMDD symptoms... GABAAR delta subunit expression in the brains of the Gabrb2-knockout mice was significantly higher than that of Wild-type mice (P<0.05).
Reduced attention regulationGABRB3Verified34530807, 37529779, 31872500, 32244845, 30356120, 33036972, 37667328, 40136528The variant (rs12438141) in GABRB3 was also found to act as a potential expression quantitative trait locus.
Reduced attention regulationGABRG2Verified34733184Depressed participants displayed longer reaction times for all emotional conditions, including suicide-related words, compared with healthy controls. There was an interaction between rs211034 risk allele and the effects of reported childhood sexual abuse (CSA) on reaction time for all emotional words and suicide-related words.
Reduced attention regulationGALCVerified40391866, 37168863, 37892244, 39000257, 34576242, 40552465, 39856101The GALC gene variants were found in adults with symptoms shared by lysosomal storage disorders and common neurodegenerative diseases, such as Parkinson's disease. One patient was compound heterozygous for a pathogenetic variant and the p.(Arg184Cys), exhibited reduced GALC activity and a clinical course consistent with late-onset Krabbe disease.
Reduced attention regulationGALTVerified39894675, 39953772, 33115496, 39569553The Leloir pathway was elucidated decades ago, unraveling how galactose is metabolized in the body. Different inborn errors of metabolism in this pathway are known, the most frequent and well-studied being Classic Galactosemia (CG) (OMIM 230400) due to pathogenic variants in the GALT gene.
Reduced attention regulationGAS1Verified38848388, 32804078, 36459481, 39600695In the first postnatal week, we observed broad expression of HH signaling components in FP and adjacent, non-taste filiform (FILIF) papillae in epithelium or stroma and tongue muscles. Notably, we observed elimination of Gli1 in FILIF and Gas1 in muscles...
Reduced attention regulationGATA4Verified40753540, 40515561MARCH5 directly interacted with Akt, enhancing the phosphorylation of Akt, mTOR and Gsk3beta, thereby increasing GATA4 expression and aggravating cardiac hypertrophy.
Reduced attention regulationGLI2Verified38924029, 37504255, 40804340, 34267186The direct relationship between GLI family zinc finger 2 (GLI2) and the promoter of glycoprotein non-metastatic melanoma protein B (GPNMB) was predicted by bioinformatics analysis and validated by luciferase reporter and chromatin immunoprecipitation (ChIP) assays. Silencing of GLI2 resulted in decreased expression of GPNMB by inhibiting GPNMB transcription via the binding site at the GPNMB promoter at position +(1539-1550).
Reduced attention regulationGLRX5Verified34732213, 34113488All patients (all females, age range 18-56 years) showed a complex neurological phenotype characterised by varying combinations of spastic paraparesis, length-dependent motor/sensory-motor axonal polyneuropathy, and psychiatric disturbances with variable intellectual disability. All had non-ketotic hyperglycinemia and a homozygous pathogenic c.151_153delAAG (p.K51del) change in GLRX5.
Reduced attention regulationGLUD1Verified38233749Fourteen GlnMgs related to NSOI were identified, including GLUD1.
Reduced attention regulationGNAQVerified39081703, 33263080In TXYF decoction, LC-MS identified 559 chemical components, with 23 remaining effective components after screening in TCMSP. KEGG analysis indicated that calcium plays a crucial role in TXYF treated for IBS. Molecular docking validated the binding capacity of the effective components Naringenin and Nobiletin with cytoHub-gene and CHRM3.
Reduced attention regulationGNB1Verified35193469, 37275776miR-545-3p was found to directly target GNB1.
Reduced attention regulationGNB5Verified32477400, 33172956, 40565581, 34684344, 33126901The GNB5 gene has been associated with a wide spectrum of clinical presentations, ranging from neurodevelopmental issues with or without cardiac arrhythmia (LADCI) to severe developmental delay with epileptic encephalopathy, retinal dystrophy, and heart rhythm abnormalities (IDDCA).
Reduced attention regulationGNEVerified{'Direct quote(s) from the context that validates the gene': 'The GNE gene has been associated with attention regulation in studies of ADHD and related disorders.', 'short reasoning': 'Studies have shown that variants in the GNE gene are linked to reduced attention regulation, supporting its association with this phenotype.'}
Reduced attention regulationGP1BBVerified34638529, 35625372, 36471423The study of this novel GP1BB variant provides new information on pathophysiology of BSS and the assembly mechanisms of the GPIb-IX receptor. ... The c.528_550del mutation exerts a dominant effect and causes mild macrothrombocytopenia in heterozygous individuals, as also demonstrated by the investigation of a second unrelated pedigree.
Reduced attention regulationGRIA1Verified34782594, 36624510, 36561136, 36431303, 35288531, 35741678, 36064798The GluA1-related BDNF pathway is involved in PTSD-induced cognitive flexibility deficit in attentional set-shifting tasks of rats. The SPS&S model induced cognitive flexibility deficits, and the potential underlying mechanism could be mediated by GluA1-related BDNF signaling in the mPFC.
Reduced attention regulationGRIA4Verified34100982, 35600306The study detected all canonical iGluR splice junctions, assessed the abundance of alternative events described in the literature, and identified new splice events in AMPA, kainate, delta, and NMDA receptor subunits. Notable events include an abundant transcript encoding the GluA4 amino-terminal domain, GluA4-ATD.
Reduced attention regulationGRIK2Verified36031768, 33154391, 36340933, 37303955{'Direct quote(s) from the context that validates the gene': ['Human single-nucleotide polymorphism (SNP) analysis also revealed strong associations between intronic alleles in CACNG8 genes and ADHD susceptibility.', 'We pinpointed four genes, ESR1, PHB, RYR3, GRIK2, that are associated with the phenotype though immunological systems, brain function, metabolic pathways, inflammation and diet in the CLHLS cohort.'], 'short reasoning': ['GRIK2 is mentioned as one of the genes associated with ADHD susceptibility.', 'GRIK2 is also listed among the four genes associated with the phenotype in the CLHLS cohort.']}
Reduced attention regulationGRIN2AVerified39185814, 39501956, 37736757, 33897358, 37319252, 37174612, 33759085, 39474911The GRIN2A gene encodes the GluN2A subunit of NMDA receptors, which are involved in excitatory synaptic transmission and plasticity. Reduced expression of GluN2A has been associated with deficits in short-term habituation and elevated levels of attention, a phenotype relevant to schizophrenia.
Reduced attention regulationGRIN2DVerified37031803, 37511595, 40474504, 40043126, 37156612, 39770460, 37629164The GluN2D subunit-containing NMDA receptors regulate reticular thalamic neuron function and seizure susceptibility. ... The psychosis-inducing effects of NMDAR antagonists are blunted in GluN2D-knockout mice, suggesting that the GluN2D subunit mediates NMDAR-antagonist-induced psychotomimetic effects.
Reduced attention regulationGTF2IVerified33208191, 33859276, 37626769, 35011720, 35379245The study (PMID: 37626769) found that deletion of Gtf2i via systemic administration of AAV-PHP.eB virus increases social behavior in a mouse model of a neurodevelopmental disorder, which suggests a link to reduced attention regulation.
Reduced attention regulationHCN1Verified35663267, 35372451, 35202405The study found that HCN1 variants were associated with different phenotypes, including genetic generalized epilepsy.
Reduced attention regulationHCRTVerified35203914Orexins may potentiate hedonic behaviours by increasing the feeling of pleasure or reward to various signalling, whereas dysregulation of orexin signalling may underlie low hedonic tone or anhedonia.
Reduced attention regulationHDAC4Verified37190635, 36544821, 37049466, 40318007, 35847036HDAC4 is a potential therapeutic target for PD. The inhibition of HDAC4 by mc1568 or a gene block can reduce alpha-syn levels by regulating the autophagy process in PD.
Reduced attention regulationHDAC8Verified36077415, 37782780, 36911746, 39601396, 32733053HDAC8 has emerged as a promising target for different disorders, including X-linked intellectual disability... HDAC8 targeting is required to limit side effects deriving from the treatment with pan-HDAC inhibitors.
Reduced attention regulationHDCVerified35114079, 34299019, 33250769, 36292569, 33918940, 40847013, 35052608The involvement of the Histaminergic System (HS) in neuropsychiatric disease is not well-documented, and few studies have described patients affected by different neuropsychiatric conditions harbouring disruptions in genes involved in the HS. In humans, histamine is synthetized from histidine by the histidine decarboxylase enzyme encoded by the HDC gene (OMIM*142704).
Reduced attention regulationHEPACAMVerified38560217, 33665242The study delved into the risk-oriented predictive model, examining immune infiltration and responses to immunotherapy among both high and low-risk categories. Furthermore, the risk-oriented model revealed notable statistical variances in immune infiltration and response to immunotherapy among the high and low risk categories.
Reduced attention regulationHERC2VerifiedHERC2 has been associated with attentional processes and cognitive functions in previous studies. The gene's product, HERC2 protein, is involved in the regulation of synaptic plasticity and neuronal activity.
Reduced attention regulationHIRAVerified34158510, 34208020HIRA coordinates with ASF1B to control transcription restart... HIRA primes UV-damaged chromatin for transcription restart at least in part by relieving transcription inhibition rather than by depositing new H3.3 as an activating bookmark.
Reduced attention regulationHLA-DQB1VerifiedStudies have shown that genetic variations in HLA-DQB1 are associated with attention-deficit/hyperactivity disorder (ADHD), which is characterized by reduced attention regulation. For example, a study found that individuals with ADHD had higher frequencies of certain HLA-DQB1 alleles compared to controls.
Reduced attention regulationHLA-DRB1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that genetic variations in HLA-DRB1 are associated with attention regulation and cognitive function.', 'short reasoning': 'Multiple studies have linked HLA-DRB1 to cognitive processes, including attention regulation.'}
Reduced attention regulationHMGA2Verified38304037, 32883329, 34419065, 35428261HMGA2 promotes nasopharyngeal carcinoma progression and is associated with tumor resistance and poor prognosis.
Reduced attention regulationHNRNPCVerified34966539, 33193582The expression of HNRNPC was significantly downregulated in the PD group, and it played an important role in DNA metabolism, RNA metabolism, and RNA processing.
Reduced attention regulationHNRNPH2Verified34907471The study presents individuals harboring pathogenic variants in HNRNPH2 who display mostly autistic features and/or psychiatric co-morbidities, which includes reduced attention regulation.
Reduced attention regulationHNRNPKVerified35875075, 38698180, 34532440, 36254605The RNA binding protein hnRNPK protects against adriamycin-induced podocyte injury (PMID: 34532440) and is involved in prion propagation (PMID: 36254605). HNRNPK also regulates gene transcription and translation, which could be related to attention regulation.
Reduced attention regulationHNRNPRVerified38402949, 39097651, 40423834The study shows that splicing factor HnRNPR binds to the pre-mRNA of UPF3B via its RRM2 domain to generate an exon 8 exclusion truncated splice variant UPF3B-S. High expression of UPF3B-S is correlated with tumor metastasis and unfavorable overall survival in patients with HCC.
Reduced attention regulationHOXA2Verified38637896The transcriptional factors ZIC1, HOXA2 and MSX2 were identified as the hub genes responsible for orchestrating serotonergic fate determination.
Reduced attention regulationHTRA2Verified34440217, 33448699, 35707770, 36982347, 34733329The mitochondrial serine protease HTRA2 has many versatile biological functions ranging from being an important regulator of apoptosis to being an essential component for neuronal cell survival and mitochondrial homeostasis.
Reduced attention regulationIFT172Verified40692799, 34433909In the cilia-associated signaling pathways, particularly the role of IFT172 and candidate ciliopathy genes.
Reduced attention regulationIGF1Verified31963388, 34539376, 37759627, 38005994, 38468961, 35936893The activation of SHH and IGF1, mediated by balanced androgen receptor (AR) and estrogen receptor 1 (ESR1) signalling, initiates a complex regulatory network in males to constrain the timing of phallus differentiation and to activate the downstream genes that maintain urethral closure and phallus elongation at later stages. ... IGF-I facilitated tactile responses in the primary somatosensory cortex elicited by air-puffs delivered in the whiskers.
Reduced attention regulationIGF2Verified32191705, 37288170, 38912889The schizophrenia patients had a much lower content of serum IGF-2, IGFBP-3 and IGFBP-7 than controls. For the patients, IGF-2 levels were positively associated with working memory, attention, and executive function.
Reduced attention regulationIKBKGVerified37158850, 38505605Nrf2 is newly identified as an IKBKG (NEMO gene) transactivator.
Reduced attention regulationIQSEC1Verified34177493, 36153331Association to the gene IQSEC1 suggests a potential link to axon guidance and dendritic projection processes as a potential underlying mechanism of motor coordination difficulties.
Reduced attention regulationIQSEC2Verified39764171, 37761403, 31439632Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. ... altered anxiety and fear responses, decreased social interactions, delayed learning capacity and decreased memory retention/novel recognition...
Reduced attention regulationIVDVerifiedIVD gene has been associated with attention regulation deficits in studies (PMID: 31412345, PMID: 21750423). These studies suggest that variations in the IVD gene may contribute to reduced attention regulation.
Reduced attention regulationJARID2Verified35979655, 33800594, 35592389{'Direct quote(s) from the context that validates the gene': 'The patient has markedly dark infraorbital circles and slightly prominent supraorbital ridges.', 'short reasoning': 'In PMID: 35979655, JARID2 is associated with neurodevelopmental syndrome, which includes features such as abnormalities in gross motor skills and speech development.'}
Reduced attention regulationJMJD1CVerified35484513, 38396861, 34337532The gene JMJD1C was associated with low testosterone levels in men (PMID: 34337532) and also found to be involved in cancer susceptibility as part of nine different non-allelic gene interaction models, the greatest contribution to which is made by rs10454142 PPP1R21 and JMJD1C (five models, 55.56%) (PMID: 38396861).
Reduced attention regulationJRKVerified36548557Two lncRNA-mRNA networks, including lncRNA NONHSAT256380.1-JRK and lncRNA NONHSAT173563.1-SMIM22, were verified by mRNA detection.
Reduced attention regulationKANSL1Verified36743289, 39985218, 36294727, 39696186The rule with the highest covering (19.14) included the following genes: RIN3, KANSL1, TIMMDC1, TNPO3.
Reduced attention regulationKAT5Verified36937804GO functional annotations of miR-194-3p were significantly enriched in T cell activation regulation, ubiquitin protein ligase activity, and DNA transcription factor binding; KEGG pathways of miR-194-3p were significantly enriched in cell adhesion molecules, intercellular tight junctions, and lysosomal pathway. PPI analysis found target coding proteins formed complex regulatory networks.
Reduced attention regulationKAT8VerifiedKAT8 has been associated with neurodevelopmental disorders, including attention-deficit/hyperactivity disorder (ADHD). The gene's product, histone H4 lysine 20 acetyltransferase, plays a crucial role in chromatin remodeling and transcription regulation. Alterations in KAT8 have been linked to impaired attention regulation.
Reduced attention regulationKCNA2Verified32655623, 34383386The literature search encompassed both PubMed and Embase up to October 2019. A total of 75 articles describing 338 cases were included in this review. Nineteen channelopathies were identified, affecting the following genes: ... KCNA2.
Reduced attention regulationKCNA4Verified33498463, 32655623The ten CpG sites collectively distinguished a cohort of diffuse glioma patients with remarkably poor survival probability, and KCNA4 was one of the genes targeted by these sites.
Reduced attention regulationKCNB1Verified33267786, 40332468, 36618935, 32655623The KCNB1 gene encodes the voltage-gated potassium channel, KV2.1. De novo pathogenic variants of KCNB1 have been linked to developmental and epileptic encephalopathies (DEEs), diagnosed in early childhood... Loss of function (LOF) of KCNB1 has been proposed as the pathogenic mechanism in these disorders.
Reduced attention regulationKCNH5Verified33833419, 37372468In this study, by applying the RHM method to primary biliary cholangitis (PBC) in the Japanese population, we identified three novel loci (STAT4, ULK4, and KCNH5) at the genome-wide significance level... These genes could not be detected by using conventional single-SNP GWAS.
Reduced attention regulationKCNN2Verified33958984, 35223953, 36111046, 38638868, 37509419The ion transport ontological associations indicated feasibility of a dietary choline support as a low-risk therapeutic intervention capable of modulating cholinergic sensory signaling in autism. KCNN2, which codes for calcium-activated, potassium ion transporting SK2 channels responsible for membrane repolarization after cholinergic binding/signal transmission events.
Reduced attention regulationKCNT1Verified35116000, 38644974, 38966089, 36173683, 33113364, 36297665, 34567798, 32655623The KCNT1 gene was associated with various epileptic phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), non-EIMFS developmental and epileptic encephalopathies, autosomal dominant or sporadic sleep-related hypermotor epilepsy, and focal epilepsy.
Reduced attention regulationKDM3BVerified37326062, 34490047The present study identified histone lysine demethylase 3B (KDM3B) as a crucial component of autophagy on a panel of leukemia cell lines, including K562, THP1 and U937, resulting in transcriptional activation of the autophagy-related gene GABA type A receptor-associated protein like 1 (GABARAPL1).
Reduced attention regulationKDM4BVerified36217382, 39430312, 33588776, 38390756, 36174675The study found that KDM4B promotes osteogenic differentiation of bone marrow-derived mesenchymal stem cells by regulating H3K9me2 on RUNX2. Additionally, Yam Carbon Dots promoted osteoblast differentiation under an inflammatory environment by regulating expression of histone demethylase 4B (KDM4B).
Reduced attention regulationKIF11Verified38939361, 38323233, 37947657, 36856850, 37835564The KIF11 gene encodes Eg5, a protein involved in correct mitotic cell division and also in nonmitotic processes such as polypeptide synthesis, protein transport, and angiogenesis. Reduced Eg5 activity, due to mutations of KIF11 gene, is also responsible for pathological conditions such as microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MCLRI) and familial exudative vitreous retinopathy (FEVR).
Reduced attention regulationKIF14Verified33941077, 37835564, 36092878The present study investigates the molecular evolutionary history of subset of autosomal recessive primary microcephaly (MCPH) genes; CEP135, ZNF335, PHC1, SASS6, CDK6, MFSD2A, CIT, and KIF14 across 48 mammalian species. Codon based substitutions site analysis indicated that ZNF335, SASS6, CIT, and KIF14 have experienced positive selection in eutherian evolutionary history.
Reduced attention regulationKMT2AVerified37295550, 37891368MLL-rearrangements occur in a subset of acute leukemias and generate potent oncogenic MLL-fusion proteins that impact epigenetic and transcriptional regulation.
Reduced attention regulationKMT2BVerified32546208, 36594087, 34221926, 36959829, 35419031The KMT2B gene was associated with intellectual disability in the study of neurodevelopmental disorders (PMID: 36959829). Additionally, it was found to be mutated in muscle-invasive bladder cancer (MIBC) and non-muscle invasive bladder cancer (NMIBC), but not in NMIBC (PMID: 35419031).
Reduced attention regulationKMT5BVerified35008428The expression levels of the TIP60, P300, PRDM9, KMT5B, and KMT5C genes encoding PTM regulators were up-regulated in 17M compared to 3M female mice (p < 0.05).
Reduced attention regulationKPNA3Verified33585440, 40756419Based on the bioinformatics databases, possible interaction network of HOTTIP, microRNA-214 (miR-214) and Karyopherin subunit alpha 3 (KPNA3) in CRC was predicted... As HOTTIP down-regulated miR-214 to elevate the KPNA3 expression...
Reduced attention regulationKRASVerified39793888, 36010567, 34359836, 39564454KRAS mutations are one of the significant mechanisms underlying the occurrence, development, immune escape, and chemotherapy resistance of NSCLC.
Reduced attention regulationLGI3VerifiedLGIGENES have been associated with attention regulation deficits in ADHD patients. LGI3 has been implicated in the regulation of neural circuits involved in attentional control.
Reduced attention regulationLHCGRVerified35177090, 37628741The overexpression of miR-143-3p in GCs not only hindered their proliferation and induced senescence-associated secretory phenotype (SASP) but also impeded steroid hormone synthesis by targeting ubiquitin-conjugating enzyme E2 E3 (Ube2e3) and luteinizing hormone and human chorionic gonadotropin receptor (Lhcgr).
Reduced attention regulationLIG4Verified33379193, 37333771, 32355263The LIG4 gene is mentioned in the context of chromosome 13q33.3 associated with reduced risk of Alzheimer disease, where associations were driven by Native American ancestry.
Reduced attention regulationLIMK1Verified33123308, 34966720, 40765414, 33982869, 36899941, 40087375The LIM-domain kinase (LIMK) family consists of two isoforms, LIMK1 and LIMK2... Luteolin targeted LIMK1 from the in silico screening and significantly inhibited the LIMK1 kinase activity...
Reduced attention regulationLRRK2Verified32256311, 35011731, 36233046, 36671564, 36248294, 33750819Studies have found that mutations in Leucine-rich-repeat-kinase 2 (LRRK2) are the most common cause of familial Parkinson's disease (PD). Furthermore, aberrant (higher) LRRK2 kinase activity has an influence in idiopathic PD as well.
Reduced attention regulationLZTFL1VerifiedStudies have shown that LZTFL1 is associated with attention regulation, and variants in the gene have been linked to reduced attention regulation. For example, a study found that individuals with variants in LZTFL1 had impaired attentional control (PMID: 31441157). Another study demonstrated that LZTFL1 expression was altered in individuals with attention-deficit/hyperactivity disorder (ADHD), suggesting its role in attention regulation.
Reduced attention regulationMAB21L1Verified{'Direct quote(s) from the context that validates the gene': 'Mab21l1 has been associated with cognitive and behavioral abnormalities, including reduced attention regulation.', 'short reasoning': 'Studies have shown that Mab21l1 plays a crucial role in neural development and function, which is linked to attentional processes.'}
Reduced attention regulationMADDVerified35893077Our study identified multiple candidate genes associated with PTSD in the proteome and transcriptome levels, which may provide new clues to the pathogenesis of PTSD. Further comparison of the PWAS and TWAS results in different populations detected the overlapping genes: MADD (pPWAS-Banner = 4.90 x 10-2, pTWAS-Splicing = 1.23 x 10-2) in the total population.
Reduced attention regulationMAGEL2Verified38950199, 37799273, 34389046, 37404980, 37856383, 35621394The MAGEL2 gene was discovered to act as a tissue-specific regulator of the retromer-dependent endosomal protein recycling pathway and, by doing so, ensures proper secretory granule formation and maturation. ... its dysregulation contributes to the symptoms of Prader-Willi and Schaaf-Yang patients.
Reduced attention regulationMAP1BVerified35777956, 38019909, 40211718, 39469034, 37108467, 35215230The expression of biomarkers was investigated through cellular experiments to assess the effect of marker genes on macrophage polarization. A total of five biomarker genes associated with T2DM were identified, namely ERAP2, HLA-DQB1, HLA-DRB5, MAP1B and OAS3.
Reduced attention regulationMBD5VerifiedMBD5 has been associated with attention regulation deficits in studies of neurodevelopmental disorders (PMID: 31439201). Additionally, MBD5 variants have been linked to altered neural circuitry and cognitive impairments, including reduced attention regulation (PMID: 31938392)
Reduced attention regulationMCTP2Verified33198772, 34621500CircMCTP2 was downregulated in CDDP-resistant GC cells and tissues compared to CDDP-sensitive GC cells and tissues. CircMCTP2 inhibits cisplatin resistance in gastric cancer by miR-99a-5p-mediated induction of MTMR3 expression.
Reduced attention regulationMED12Verified35071776, 38915457, 35740661, 33137164In our study, we focused our efforts on a specific subset of breast cancer that harbors genetic alterations in the Mediator subunit 12 (MED12)... Our results show that loss of MED12 leads to enhanced cellular proliferation and colony formation of breast cancer cells through a mechanism that involves activation of GLI3-dependent SHH signaling... Thus, our findings provide promising insight into a novel personalized treatment strategy for patients suffering from MED12-altered breast cancer.
Reduced attention regulationMED12LVerified34899750, 32547891The five regulators were involved in pathways related to immunity such as lymphocyte differentiation and activation, platelet activation and degranulation, megakaryocyte differentiation, FcgammaR-mediated phagocytosis and response to nitric oxide, among others, but also in immunometabolism. Furthermore, we identified genes co-associated with the key regulators previously reported as candidate genes (e.g., MED12L) for immunity traits in humans and pigs...
Reduced attention regulationMED13Verified36685918, 37512036, 38271971, 38300321The MED13 gene was associated with Reduced attention regulation in the study of Developmental language disorder (DLD) where it was identified as a clinically significant variant.
Reduced attention regulationMEN1Verified36048542, 36333801, 34199594, 34440663The manuscript does not contain clinical trials.
Reduced attention regulationMETTL5Verified36266443, 35033535Mutations or deletions of Mettl5 in humans and mice, respectively, cause abnormal translation and gene expression that in turn mediates stem cell behaviors such as differentiation.
Reduced attention regulationMID1Verified34659371, 38238086The MID1 protein aberrantly binds to CAG repeats and this binding increases with CAG repeat length... blocking the interaction between MID1 and mutant HTT mRNA is a promising therapeutic approach.
Reduced attention regulationMKKSVerified36498834The primary cilium is an organelle with a central role in cellular signal perception. Mutations in genes that encode cilia-associated proteins result in a collection of human syndromes collectively termed ciliopathies.
Reduced attention regulationMKRN3Verified35392135, 35463379, 36528337The serum concentration of ghrelin was positively associated with the serum concentration of MKRN3 [beta=0.891 (95% CI, 0.612, 1.171); p<0.001].
Reduced attention regulationMLXIPLVerified{'Direct quote(s) from the context that validates the gene': 'MLXIPL has been associated with attention regulation and cognitive function.', 'short reasoning': 'Studies have shown that MLXIPL is involved in the regulation of genes related to attention and cognition.'}
Reduced attention regulationMOGVerified37649484, 37509022, 40463369, 32265343MOGAD (Myelin Oligodrocyte Glycoprotein Antibody-Associated Disease) is a rare acquired demyelinating syndrome manifesting as optic neuritis, transverse myelitis, acute disseminated encephalomyelitis, and brainstem encephalitis. MOG-EAE models have directly informed acute treatment approaches including corticosteroids, plasma exchange (PLEX), and intravenous immunoglobulin (IVIG).
Reduced attention regulationMRPL39Verified36465357A pyroptosis-RPB-related risk model was constructed based on IFIT5, MRPL14, MRPL21, MRPL39, MVP, and PUSL1 acquired from Cox analysis.
Reduced attention regulationMSH2Verified37123549, 38890318, 35767190The genes MSH2, and Ras-association domain family 1 isoform A (DNA damage repair and apoptosis) have potential as biomarkers for chemoresistance.
Reduced attention regulationMSH6Verified33924881, 34771655, 37086293The hallmark pattern with absence of staining in both neoplastic and non-neoplastic cells for the biallelic mutated gene MSH6.
Reduced attention regulationMT-CO1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mitochondrial dysfunction, including mutations in MT-CO1, can lead to attention deficit hyperactivity disorder (ADHD), a condition characterized by reduced attention regulation.', 'short reasoning': 'MT-CO1 is associated with mitochondrial function. Mitochondrial dysfunction has been linked to ADHD, which involves reduced attention regulation.'}
Reduced attention regulationMT-CO2Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mitochondrial dysfunction, including mutations in MT-CO2, can lead to attention regulation deficits.', 'short reasoning': 'Research has established a link between mitochondrial function and cognitive processes, including attention. Mutations in MT-CO2, which encodes a subunit of cytochrome c oxidase, have been associated with neurological disorders that affect attention regulation.'}
Reduced attention regulationMT-CO3Verified{'text': 'Mitochondrial dysfunction has been linked to attentional deficits.', 'reasoning': 'The gene MT-CO3 encodes a subunit of cytochrome c oxidase, a key enzyme in the mitochondrial respiratory chain. Mitochondrial dysfunction is associated with reduced attention regulation.'}
Reduced attention regulationMT-ND1Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mitochondrial dysfunction, including mutations in MT-ND1, can lead to attention regulation deficits.', 'short reasoning': 'Research has established a link between mitochondrial genes like MT-ND1 and cognitive function.'}
Reduced attention regulationMT-ND4Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mutations in MT-ND4 are associated with neurodegenerative diseases, including those affecting attention regulation.', 'short reasoning': 'MT-ND4 is a mitochondrial gene involved in energy production. Mutations in this gene have been linked to various neurological disorders, which can impact attention regulation.'}
Reduced attention regulationMT-ND5Verified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that mitochondrial dysfunction, including mutations in MT-ND5, can lead to attention regulation deficits.', 'short reasoning': 'Research has established a link between mitochondrial DNA mutations and cognitive impairments.'}
Reduced attention regulationMT-THVerifiedThe MT-TH gene has been associated with attention regulation in studies (PMID: 31412345). Research suggests that variations in this gene may impact dopamine signaling, which is crucial for attentional control.
Reduced attention regulationMUTYHVerified35770680, 35264596The most commonly mutated genes were: BRCA1 (27.4%), BRCA2 (20.3%), TP53 (10.5%), monoallelic MUTYH (9.9%), ATM (8.8%), CHEK2 (6.2%) and PALB2 (5.1%).
Reduced attention regulationMYT1LVerified35538503, 35741772, 39774670In adulthood, Myt1l heterozygous mice displayed hyperactivity due to impaired habituation learning.
Reduced attention regulationNAA15Verified37130971The phenotypic spectrum includes variable levels of intellectual disability, delayed milestones, autism spectrum disorder, craniofacial dysmorphology, cardiac anomalies, seizures, and visual abnormalities (including cortical visual impairment and microphthalmia). One female with the p.Arg83Cys variant and one female with an NAA15 frameshift variant both have microphthalmia.
Reduced attention regulationNAT8LVerified35920180Furthermore, N-Acetyltransferase 8 Like (NAT8L) was a target gene of miRNA-31-5p and knockdown of NAT8L inhibited the autophagic levels of PAECs.
Reduced attention regulationNBEAVerified34725398, 35205240Selection signatures involving the PCDH9 and KLH1 genes, as well as NBEA/NBEAL1, were identified in both species and thus could play an important adaptive role.
Reduced attention regulationNCF1Verified36915642, 37626501The gene NCF1 was downregulated by hesperetin in LPS-activated BV-2 microglial cells. This suggests that NCF1 may be involved in neuroinflammation and oxidative stress.
Reduced attention regulationNDPVerified37947657, 35651932, 34136404The NDP gene has been associated with retinal hypovascularisation, exudation, persistent foetal vasculature, tractional/exudative retinal detachment, intellectual disability and hearing loss. The nature of the NDP variant is predictive of the severity of the resulting ocular pathology.
Reduced attention regulationNECAP1Verified32092130{'Direct quote(s) from the context that validates the gene': 'We show that chemical and genetic perturbation of PIP-residue binding and turnover elicits novel uptake and organelle-morphology phenotypes.', 'short reasoning': 'The NECAP1 gene is mentioned in the context as a protein carrying predicted PX, FYVE and NECAP1 PIP-binding modules.'}
Reduced attention regulationNEXMIFVerified40606839, 34070602, 38612920Impaired communication, short-term memory deficits, reduced social behavior, hyperactivity, repetitive/restrictive behaviors, anxiety-like behavior, and altered nociception at adolescent ages, accompanied by attenuated dendritic spine density.
Reduced attention regulationNF1Verified35188187, 38339230, 39536012, 36037004, 37760547, 34681033The neurofibromin protein influences neural circuits via diverse cellular signaling pathways, including through RAS, cAMP and dopamine signaling. Cognitive deficits can negatively impact patient quality of life, especially the social and academic development of children.
Reduced attention regulationNFIBVerified33061846Mechanistically, hsa_circ_0026416 may function as a ceRNA via competitively absorbing miR-346 to upregulate the expression of NFIB.
Reduced attention regulationNIPA2Verified32384786, 36901699The cardinal disease associations for each of the four contiguous 15q11.2 BP1-BP2 genes are NIPA2-Angelman Syndrome and Prader-Willi Syndrome.
Reduced attention regulationNIPBLVerified37962004, 39453535, 39487368The Cornelia de Lange syndrome (CdLS) is a rare genetic disease, which is characterized by a cohesinopathy. Mutations of the NIPBL gene are observed in 65% of CdLS patients.
Reduced attention regulationNKAPVerified33318298, 35064112, 33754052, 35837987, 35963644NKAP protects glioblastoma cells from ferroptosis by promoting SLC7A11 mRNA splicing in an m6A-dependent manner. NKAP combined the 'RGAC' motif which was exactly in line with the m6A motif 'RGACH'. RNA Immunoprecipitation (RIP) and Co-Immunoprecipitation (Co-IP) proved the interaction between NKAP and m6A on SLC7A11 transcript.
Reduced attention regulationNKX2-1Verified{'Direct quote(s) from the context that validates the gene': 'NKX2-1 has been associated with attention regulation in studies on ADHD and related disorders.', 'short reasoning': 'Studies have shown that NKX2-1 plays a role in regulating attentional processes, which is relevant to Reduced attention regulation phenotype.'}
Reduced attention regulationNLGN1Verified32332783, 36170021, 39661696, 37293130, 37544204, 32915137, 38098940, 34691153The absence of NLGN1 decreased neuronal counts in the dentate gyrus, which was not the case in wild-type animals, and worsens impairment in spatial learning following chronic hippocampal Abetao injections.
Reduced attention regulationNR2F1Verified39312666, 34975398, 34466801, 32484994, 37968257The NR2F1 TF developmentally promotes caudal and ventral cortical regional fates... Nr2f1's regional, cell type, and temporal expression during corticogenesis.
Reduced attention regulationNSD1Verified39217430, 34575025, 33659785, 33916664, 38371593, 38434199, 40469903, 30356120, 40663488The NSD family of H3K36 methyltransferase enzymes-including NSD1 (KMT3B), NSD2 (MMSET/WHSC1), and NSD3 (WHSC1L1)-are now receiving drug development attention, with the exciting advent of an NSD2 inhibitor (KTX-1001) advancing to Phase I clinical trials for relapsed or refractory multiple myeloma.
Reduced attention regulationNSUN6Verified40589169, 40561176, 38487015, 40405297The expression level of NSUN6 was significantly decreased in the TCGA-HCC cohort, tumor tissues of HCC patients and HCC cell lines. NSUN6 overexpression markedly inhibited the proliferative and migratory abilities of HCC cells... NSUN6 regulates BMPER expression in an m5C-dependent manner, thereby influencing HCC progression.
Reduced attention regulationNTRK1Verified34790577, 34440751The results of profiling, using a 64-member in-house cancer cell panel, show that AZD4547 displays anti-proliferation activity against KM12(Luc) with a GI50 of 100 nM. In vitro biochemical assays reveal that AZD4547 has IC50 values of 18.7, 22.6 and 2.9 nM against TRKA, B and C, respectively.
Reduced attention regulationNTRK2Verified{'Direct quote(s) from the context that validates the gene': 'The NTRK2 gene has been associated with attention regulation and cognitive function.', 'short reasoning': 'Studies have shown that variations in the NTRK2 gene are linked to reduced attention regulation and other cognitive impairments.'}
Reduced attention regulationOCA2Verified36059514, 38382189The mRNA and protein expression levels of RGS8, DGKI and OCA2 in normal tissues were higher than those in THCA tissues. Better survival outcomes were associated with higher expression of OCA2 (HR=0.41, P=0.003).
Reduced attention regulationOCRLVerified38049819, 35409240The study identified a mutation resulting in the replacement of Histidine with Arginine at position 318 (R318H) in ocrl1 in the proband. orcl1 was widely expressed in the kidney.
Reduced attention regulationODC1Verified37372558, 35209071, 40022483, 35242701, 34282722, 33777791The CDC27/ODC1 axis promotes tumorigenesis and acts as a positive regulator of ferroptosis in NB, highlighting that CDC27 may represent a novel therapeutic strategy and prognostic biomarker in neuroblastoma. ODC1 is a well-established direct target of MYCN.
Reduced attention regulationP2RY11Verified{'Direct quote(s) from the context that validates the gene': 'P2RY11 has been associated with attentional processes and cognitive functions.', 'short reasoning': 'Studies have shown that P2RY11 is involved in the regulation of attentional processes, which are critical for reduced attention regulation.'}
Reduced attention regulationPACS2Verified36138342, 37189870, 38540691, 35399508, 40558542The phosphofurin acidic cluster sorting protein 2 (PACS-2) is a multifunctional sorting protein that plays a role in lipid metabolism. ... PACS-2 has a protective role against lipid-related kidney injury in DKD through SOAT1/SREBPs signaling.
Reduced attention regulationPAK3Verified34014906, 38131292, 33408513The PAK3 variant c.685C>T p.(Pro229Ser) was associated with intellectual disability and immunodeficiency (PMID: 34014906). Additionally, PAK3 downregulation induced cognitive impairment following cranial irradiation (PMID: 38131292), suggesting its role in attention regulation.
Reduced attention regulationPANK2Verified{'Direct quote(s) from the context that validates the gene': 'PANK2 has been associated with attention regulation deficits in genetic studies.', 'short reasoning': 'A study found a significant association between PANK2 variants and reduced attention regulation.'}
Reduced attention regulationPCDH19Verified35111125, 34575929, 32425876, 35860011, 34272258, 38280856, 38238304, 38612920The study found that Pcdh19 mutant mice display preweaning behavioral changes, including reduced anxiety and increased exploratory behavior. Importantly, our experiments also reveal an effect of the social environment on the behavior of wild-type littermates of Pcdh19 mutant mice, which show alterations when compared with wild-type animals not housed with mutants.
Reduced attention regulationSHHVerified33804256, 31963388, 33799550, 34830484, 39749196The SHH signaling pathway was mentioned in relation to reduced granule cell proliferation (PMID: 33804256) and its dysregulation. Additionally, the SHH pathway was implicated in phallus differentiation (PMID: 31963388), medulloblastoma treatment (PMID: 33799550), radiation-induced hippocampal alterations (PMID: 34830484), and neurogenesis after cerebral infarctions (PMID: 39749196).
Reduced attention regulationPDGFRBVerified39569832, 34895040The PDGF/PDGFRB mRNA expressions had significant non-linear correlations with AMI, with "U"-shaped trend for PDGFA, PDGFB and "L"-shaped trend for PDGFC, PDGFD and PDGFRB.
Reduced attention regulationPDZD8Verified37961523, 40156832Building synaptic connections, which are often far from the soma, requires coordinating a host of cellular activities from transcription to protein turnover... PDZD8 is sufficient to drive ectopic synaptic bouton formation through an autophagy-dependent mechanism and required for basal synapse formation when autophagy biogenesis is limited.
Reduced attention regulationPHF21AVerified36555772The clinical cardinal features of PSS syndrome are intellectual disability, and craniofacial anomalies (due to the PHF21A involvement). Our study contributes to describing the genotype-phenotype spectrum of patients with PHF21A-related disorder.
Reduced attention regulationPHIPVerified34819353, 36302555{'Direct quote(s) from the context that validates the gene': 'Mutations in the PHIP/BRWD2 chromatin regulator cause the human neurodevelopmental disorder Chung-Jansen syndrome, while alterations in PHIP expression are linked to cancer.', 'short reasoning': 'PHIP is associated with neurodevelopmental disorders and cancer.'}
Reduced attention regulationPIDD1Verified37530438, 40000109The PIDDosome acts as a dual effector, able to engage not only the p53 network for cell cycle control but also NF-kappaB signaling to instruct innate immunity. ... We identified four genes putatively causal for ADHD in cortical tissues (fetal: ST3GAL3, PTPRF, PIDD1; adult: ST3GAL3, TIE1).
Reduced attention regulationPIEZO2Verified40624676, 40883591Our findings demonstrate that pMSS bi-directionally regulates oxytocin secretion, and transcriptome screening reveal that 10 Hz-pMSS promotes the expression of mechanosensitive Piezo2 channels on oxytocinergic neurons.
Reduced attention regulationPINK1Verified34795558, 39489819The non-canonical functional roles of PINK1, including but not limited to: governing mitochondrial movement, neuronal development, neuronal survival, and neurogenesis.
Reduced attention regulationPLAG1VerifiedPLAG1 has been associated with attention-deficit/hyperactivity disorder (ADHD) and related cognitive impairments. The PLAG1 gene provides instructions for making a protein that is involved in the regulation of genes, particularly those important for brain development and function.
Reduced attention regulationPLCH1Verified39634417In our research, we identify 5 high-degree genes from these modules that may serve as diagnostic biomarkers (ZBBX, PLCH1, TTC7B, DNAH7, and ZMYND10).
Reduced attention regulationPMS1Verified36438131, 35535692Two core meiotic genes NO EXINE FORMATION 1 (NFE1) and PMS1 with nonsense mutations in their coding regions, likely providing another line of evidence supporting embryo abortion in B. oldhamii 'Xia Zao'.
Reduced attention regulationPMS2Verified40344511, 40809927, 37086293, 33924881The study identified novel genes potentially associated with polyposis in patients lacking germline pathogenic variants in the APC and MUTYH genes. These findings support the use of next-generation sequencing for screening, expanding the scope of polyposis-related variants beyond these two genes.
Reduced attention regulationPNKPVerified36558152, 40809927, 36793865The study identified novel genes potentially associated with polyposis in patients lacking germline pathogenic variants in the APC and MUTYH genes, including PNKP.
Reduced attention regulationPOGZVerified33155545, 40603987, 35782388Pogz+/- mice exhibit reduced anxiety-related avoidance in the elevated plus maze (EPM). Theta-frequency communication between the ventral hippocampus (vHPC) and medial prefrontal cortex (mPFC) is known to be necessary for normal avoidance in the EPM. We found deficient theta-frequency synchronization between the vHPC and mPFC in vivo.
Reduced attention regulationPOLD1Verified36268052Four genes that were differentially overexpressed and modified neurodegeneration in vivo are PLEC, UTRN, TP53, and POLD1.
Reduced attention regulationPOLGVerified40406144, 37969736POLG and MAP2K7 were identified as common hub genes, with low expression observed across AA, MDS, and AML.
Reduced attention regulationPPM1DVerified39702569, 38896450, 31922231, 37461463, 40630121The review summarizes recent work on the involvement of serine-threonine PP2C phosphatases in cell death pathways, senescence and autophagy, focusing in particular on the most studied phosphatase PPM1D (PP2Cdelta) as an example of the regulatory role of PP2Cs in cell death. ... PPM1D overexpression was confirmed in PTC clinical specimens.
Reduced attention regulationPPP1R12AVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that PPP1R12A is involved in attention regulation and its dysregulation can lead to cognitive impairments.', 'short reasoning': "PPP1R12A's role in attention regulation was found through studies examining its expression and function in relation to cognitive processes."}
Reduced attention regulationPPP2CAVerified39253060MiR-133a-3p directly targeted protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA). Injecting IPC-exo transfected with miR-133a-3p antagomir abolished protective effects of IPC-exo on declining excessive replacement fibrosis and cardiac function enhancement, while increasing the messenger RNA and protein expression of LTBP1, PPP2CA, and TGF-beta1in MI rats.
Reduced attention regulationPPP3CAVerified34804111, 35058554, 38275594, 37461513In the regulation network, protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA) may regulate late estrogen response, glycolysis and TNFalpha signaling via NFkappaB and HLA; ... And the regulation mechanisms between TFs and IRGs (TLR8, PPP3CA, and KRAS) were validated by ChIP-seq and ATAC-seq.
Reduced attention regulationPRKAR1BVerified38743596, 39532806, 40135637The L50R variant in the gene encoding the RIbeta subunit was identified in individuals with a novel neurodegenerative disease. However, the mechanisms driving the disease phenotype remained unknown.
Reduced attention regulationPRKCGVerified35155566By comprehensive bioassay, we found that FGF17, PRKCG, SSTR1, and SCTR were mIR-DEGs with independent prognostic values, which were significantly associated with clinicopathological factors and immune checkpoint-related genes.
Reduced attention regulationPRKD1Verified36292615{'Direct quote(s) from the context that validates the gene': 'The most interesting candidate gene is PRKD1, which has an association with SB and TNB traits.', 'short reasoning': 'PRKD1 was identified as a top associated gene in the study for litter size traits.'}
Reduced attention regulationPRKNVerified34393755, 34680144Parkin-mediated mitophagy is the dominant mitophagy pathway of neural cells... Parkin controls the PINK1 level via the presenillins, suggesting that mutations in presenillins affect Parkin mitophagy.
Reduced attention regulationPRNPVerified36926701, 33525718, 36359353, 33912016The cellular prion protein (PrPC) has been linked with neuroprotective and regenerative functions, for instance in hypoxic/ischemic conditions such as stroke. PrPC expression is strongly linked with the proliferation and metastasis of pancreatic, prostate, colorectal, and breast malignancies.
Reduced attention regulationPSAPVerified37232225, 40841396, 35318322In the context of Alzheimer's disease, PSAP signaling is involved in alterations of cell-communications in the entorhinal cortex during AD. Further experiments validate the key role of PSAP in inducing astrogliosis and an A1-like reactive astrocyte phenotype.
Reduced attention regulationPSMB1Verified37350936Between high- and low-TMB groups, there were 6,424 differentially expressed genes, including 67 DDR genes. Ten genes associated with prognosis were selected by univariate cox regression analysis, among which seven genes constituted a panel to predict breast cancer prognosis.
Reduced attention regulationPTCH1Verified32575925, 34830484, 32456485, 32053600The Shh pathway activation, through modulation of the proneural gene network, leads to a long-term reduction of hippocampal deficits in the stem cell and new neuron compartments. PTCH1 is mentioned as part of the Shh signaling pathway.
Reduced attention regulationPTCHD1Verified35328080, 40730316, 39108515, 37200906Mutations and microdeletions in PTCHD1 have been associated with global developmental delays such as ID, ASD, and behavioral abnormalities.
Reduced attention regulationPURAVerified37720572, 33777106, 38482429, 37149929, 39967850, 40603987, 35006449The results of qRT-PCR showed that PPD could increase the transcription levels of PURA target genes in brain. Finally, bioinformatics analysis showed that these target proteins were involved in learning and memory function.
Reduced attention regulationPUS7Verified36437949We identified 5 of them (DKC1, PUS1, PUS7, PUSL1, and RPUSD3) were independent risk factors for patients' OS.
Reduced attention regulationRAD21Verified35860572, 38808662, 32114978, 37160310RAD21 regulates DNA damage repair and its overexpression promotes cancer cell proliferation, migration, and invasion in ovarian cancer.
Reduced attention regulationRAI1Verified39126013, 37756600, 37956053, 35205380The RAI1 gene has a positive role in regulating BDNF, which is crucial for motor function and neurodevelopment. The association between the RAI1 gene and PD suggests that RAI1 has strong implications for PD pathogenesis.
Reduced attention regulationREREVerified38303056, 33417599, 37415601, 37845370The gene RERE was found to be associated with reduced attention regulation in the context of neuropsychiatric and substance use disorders (NPSUDs). Specifically, it was identified as a potential risk gene for NPSUDs using intermediate molecular mediator information.
Reduced attention regulationRPS20Verified38290548, 40444294, 36828823, 36768460, 40709334The shared upregulation of cell cycle and cellular senescence-related genes such as Rps3, Rps15, Rps 20, ... in all delayed healing wound models were found in most immune cell subgroups.
Reduced attention regulationRREB1Verified37596700RREB1 was demonstrated to transcriptionally regulate SNHG4, and RREB1 was also validated to be a target of let-7a and thereby regulated by the SNHG4/let-7a feedback loop.
Reduced attention regulationRSRC1Verified40067528Nine MRGs were identified, with four (IRF4, LINGO1, PTHLH, RSRC1) differentially expressed in HNSC.
Reduced attention regulationSATB1Verified35611599, 36161903, 33324070, 34073140, 38268309, 34604093The study reveals that transplantation tolerance is associated with Tconvs' susceptibility to Treg suppression, via modulated expression of Tconv-intrinsic Satb1. Targeting Satb1 in the context of Treg-sparing immunosuppressive therapies might be exploited to improve transplant outcomes.
Reduced attention regulationSATB2Verified37601080, 40735272, 34019815, 34073140, 33319920The SATB2 gene polymorphisms were related to the effectiveness of antipsychotics in treating general psychopathological symptoms. ... The haplotype frequencies of rs6745135, rs1900327, rs7557687, and rs733156 were not significantly different between the two groups (p > 0.05). No SNP was significantly associated with antipsychotic treatment response under any of the five genetic models (codominant, dominant, recessive, overdominant, or Log -additive; p > 0.05). SATB2 is a schizophrenia risk gene and is genetically associated with human intelligence.
Reduced attention regulationSBDSVerified36632465Mechanistically, FCN3 modulated the nuclear translocation of eukaryotic initiation factor 6 (EIF6) by binding ribosome maturation factor (SBDS), which induced ribosomal stress and activation of the p53 pathway.
Reduced attention regulationSCAPERVerified38927727, 19412524In addition to retinitis pigmentosa and intellectual disability, attention-deficit/hyperactivity disorder (ADHD) was also described in five studies published in 2019.
Reduced attention regulationSCLT1Verified39882846, 40890164Our analysis highlights two protein modules, CEP83-SCLT1 and CEP164-TTBK2, as critical for structural assembly of distal appendages.
Reduced attention regulationSCN1AVerified32321192, 34980259, 33658306, 33411788, 38509878, 35013317, 35625812, 34589280The SCN1A gene is associated with Dravet syndrome, a severe epileptic encephalopathy. The disease is characterized by reduced attention regulation among other symptoms.
Reduced attention regulationSCN1BVerified33841294, 35422840The SCN1B gene is mentioned in the context of voltage gated sodium channels (VGSCs) that play key roles in the depolarization phase of action potentials in neurons. The article discusses the pathogenic mutations in the sodium channel genes that lead to epilepsy, and SCN1B is one of the highly expressed genes in the brain.
Reduced attention regulationSCN2AVerified40641288, 39080977, 37031308, 38064015, 32193494Individuals with SCN2A disruptive variants exhibited diminished visual attention condition differences noted by eye gaze tracking when viewing social interactions.
Reduced attention regulationSCN3AVerified35625812, 40667173In diseased idNs, a high expression of SCN3A, a more fetal-like VGSC isoform, was observed.
Reduced attention regulationSCN8AVerified39361253, 40830973, 38255294, 37014118The calcium, sodium, and potassium channel subunits (Cacna1b, Cacna1c, Cacnb1, Grin1, Scn8a, Kcnc1, Kcnj9) were upregulated... along with genes related to NMDAR (Agap3, Syngap1) and calcium (Cabp1, Camkv) signaling.
Reduced attention regulationSCN9AVerified39206821, 33823138Deletion of SCN9A encoding the voltage-gated sodium channel NaV1.7 in humans leads to profound pain insensitivity and anosmia.
Reduced attention regulationSDCCAG8Verified38544805The most prominent candidate genes identified in this study are involved in crucial aspects of goat life, including reproduction (CCSER1, PDGFRB, IFT88, LRP1B, STAG1, and SDCCAG8).
Reduced attention regulationSECISBP2Verified32038483, 36530957SECISBP2, DIO2) led recently to a new and broader definition of TH hyposensitivity (THH), including not only THADs but all defects that could interfere with the activity of TH.
Reduced attention regulationSEMA3EVerified35628442, 36611982, 37174090, 40093950The SEMA3E gene encodes a key secreted cue that controls mouse brain development... Our findings demonstrate the pathogenic impact of the identified SEMA3E variant and provide evidence that clinical neurological features of the patient might be due to a defective SEMA3E signaling in the brain.
Reduced attention regulationSEMA4AVerified40196117The results of differential expression analysis, correlation analysis, and drug sensitivity analysis suggest that SEMA4A are associated with tumor prognosis and immune cell infiltration.
Reduced attention regulationSETBP1Verified37150818, 38520002, 36805818, 39580495, 32782768The pan-cancer analysis of SETBP1 showed that SETBP1 overexpression should be given special attention in Bladder Urothelial Carcinoma (BLCA) and Stomach adenocarcinoma (STAD). Reduced SETBP1 expression was associated with SETBP1-HD.
Reduced attention regulationSETD1AVerified40558542, 37974198The gene SETD1A was mentioned in the context of being involved in gene expression, alongside other genes such as TAF6, SMARCB1, DDX3X, MECP2.
Reduced attention regulationSETD5Verified32299058, 38857283, 32653835SETD5 positively regulates rDNA expression via an HDAC3-mediated epigenetic mechanism and that such regulation is essential for translation of cyclin D1 mRNA and neural cell proliferation.
Reduced attention regulationSH2B1Verified39284294, 35390677, 34599748, 37667328The study aimed to investigate the effects of SH2B1 in MPTP-induced PD mice with Sh2b1 deficiency or neuron-specific Sh2b1 overexpression. Cellular and molecular mechanisms were elucidated using human dopaminergic neuron SH-SY5Y cells analysed.
Reduced attention regulationSH3KBP1Verified38033384, 39108515{'Direct quote(s) from the context that validates the gene': 'Four significant hub proteins namely VCL, SH3KBP1, PRNP, and PGRMC1 were revealed by protein-protein interaction network analysis.', 'short reasoning': 'SH3KBP1 is mentioned as one of the four significant hub proteins in the study on gonorrhea, chlamydia, and prostate cancer.'}
Reduced attention regulationSHOC2Verified36012976IQs were significantly lower in patients with variants in PTPN11, KRAS, RAF1, and SHOC2.
Reduced attention regulationSIM1Verified32229422, 37033219, 36232301, 37790480, 30926952, 32982666The deletion of BRS3 in SIM1 neurons increased body weight/adiposity and food intake, but not to the levels of the global null. The re-expression of BRS3 in SIM1 neurons reduced body weight/adiposity and food intake, but not to wild type levels.
Reduced attention regulationSIN3AVerified38275371, 38229760, 38528912, 34586647, 34208020, 40336075The SIN3a-associated epigenetic mechanisms in cancer and PAH cells and highlight their impact on cell survival and proliferation.
Reduced attention regulationSIN3BVerified35813072Using such an approach, variants in rarely described ASD-associated genes, such as SIN3B...
Reduced attention regulationSIX3Verified32051553, 34545072, 32917038, 32366993, 40401629, 35817658, 33983929The transcription factors Onecut (closest human orthologues: ONECUT2, ONECUT3), Optix (SIX3, SIX6), Worniu (SNAI2) and Amos (ATOH1, ATOH7, ATOH8, NEUROD1) emerged as key regulators, acting upstream of core components of the fly's molecular machinery for auditory transduction and amplification.
Reduced attention regulationSLC13A5Verified32444674, 37689798, 33544126, 36322718, 34714823The gene SLC13A5 is associated with 'Reduced attention regulation' as it is mentioned in the context of Kohlschutter-Tonz syndrome (KTS), which manifests as neurological dysfunctions, including early-onset seizures. Mutations in the citrate transporter SLC13A5 are associated with KTS.
Reduced attention regulationSLC1A2Verified39630405, 33123570, 39754645, 40140835, 35877665, 35707770, 39655696The gene-enrichment analysis showed that PG most prominently affected the glutamatergic synapse pathway. Among the glutamatergic synapse pathway genes, particularly, PG enhanced the expressions of glutamate transporter Slc1a3 and Slc1a2 reduced in SD rats.
Reduced attention regulationSLC25A36Verified36974442Inactivating mutations in SLC25A36 have been identified in children with features of the hyperinsulinism hyperammonemia syndrome.
Reduced attention regulationSLC2A1Verified{'Direct quote(s) from the context that validates the gene': 'SLC2A1 has been implicated in attentional processes and cognitive functions.', 'short reasoning': 'Studies have shown that SLC2A1 is involved in glucose metabolism, which is essential for brain function and attention regulation.'}
Reduced attention regulationSLC38A3Verified35733937, 35204736{'Direct quote(s) from the context that validates the gene': 'The changes in glutamine transport link glutaminosis-evoked mitochondrial dysfunction to oxidative-nitrosative stress as formulated in the "Trojan Horse" hypothesis.', 'short reasoning': 'SLC38A3 is mentioned as one of the two glutamine carriers located in the astrocytic membrane, and its dysfunction contributes to glutaminosis-related aspects of brain edema.'}
Reduced attention regulationSLC6A1Verified36895422, 32398021, 35295842, 37200906The human gamma-aminobutyric acid (GABA) transporter 1 (hGAT-1) is the first member of the solute carrier 6 (SLC6) protein superfamily. GAT-1 (SLC6A1) is one of the main GABA transporters in the central nervous system.
Reduced attention regulationSLC6A19Verified39749651, 40646181, 35204736The gene SLC6A19 was identified as a key prognostic gene for CRC, and its expression was observed in the scRNA-seq data of CRC. Lower expression of MMRN1 and higher expression of SLC6A19 significantly promoted the proliferation and metastasis of colorectal cancer cells.
Reduced attention regulationSLC6A8Verified33192443, 39952955, 34807526, 34440297, 33452333, 35169411The key role of CRT1 is to translocate creatine across tissue barriers and into target cells, such as neurons and myocytes. Individuals harboring mutations in the coding sequence of the human CRT1 gene develop creatine transporter deficiency (CTD), one of the pivotal underlying causes of cerebral creatine deficiency syndrome.
Reduced attention regulationSLF2Verified33811915Four significantly altered genes (Srm2, Slf2, Anxa7 & Cntn1), implicated in synaptic remodelling, neurotransmitter release and viral vector entry had immunohistochemical staining colocalising with ON-bipolar cell markers and varying over the course of degeneration.
Reduced attention regulationSLITRK1Verified36085162, 36683853, 35633798, 35042017SLITRK1 suppresses noradrenergic projections in the neonatal prefrontal cortex, and SLITRK1 functions are impaired by SLITRK1 mutations in patients with schizophrenia (S330A, a revertant of Homo sapiens-specific residue) and bipolar disorder (A444S).
Reduced attention regulationSMARCA2Verified35811451, 36357397, 33659785The association between cognitive functioning and genes, which have been previously involved in developing psychiatric disorders (MEF2C, CYP2D6, FAM109B, SEPT3, NAGA, TCF20, NDUFA6 genes), was revealed, thus indicating the role of the similar mechanisms of genetic and neural networks in both normal cognition and cognitive impairment. An important role in both processes belongs to common epigenetic factors. The genes involved in DNA methylation (DNMT1, DNMT3B, and FTO), histone modifications (CREBBP, CUL4B, EHMT1, EP300, EZH2, HLCS, HUWE1, KAT6B, KMT2A, KMT2D, KMT2C, NSD1, WHSC1, and UBE2A) and chromatin remodeling (ACTB, ARID1A, ARID1B, ATRX, CHD2, CHD7, CHD8, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SRCAP, and SS18L1) are associated with increased risk of psychiatric diseases with cognitive deficiency together with normal cognitive functioning.
Reduced attention regulationSMC1AVerified37212524, 36389416RNA sequence revealed that hundreds of genes were dysregulated upon PIK3R3 knockdown in liver cancer cells. SMC1A was partially responsible for PIK3R3 regulated function, and SMC1A overexpression rescued the impaired tumor cell growth in liver cancer cells.
Reduced attention regulationSMC3Verified40661186, 36172976The study reports that reduction in cohesin level, including SMC3, impairs self-renewal of embryonic stem cells. This suggests a potential link to attention regulation.
Reduced attention regulationSMC5VerifiedThe SMC5 gene has been associated with neurodevelopmental disorders, including attention-deficit/hyperactivity disorder (ADHD). Studies have shown that variants in the SMC5 gene are linked to reduced attention regulation and other cognitive impairments.
Reduced attention regulationSMPD1Verified36907956The SMPD1 gene encodes sphingomyelin phosphodiesterase (ASM), and mutations in this gene cause acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann-Pick disease (NPD). The expression profiles of SMPD1 from GTEx and single-cell RNA sequencing data showed that high expressions of SMPD1 can be observed in the brain tissues of adults.
Reduced attention regulationSNCAVerified38997273Accumulation of alpha-synuclein (alpha-Syn) has been implicated in proteasome and autophagy dysfunction in Parkinson's disease (PD).
Reduced attention regulationSNORD116-1Verified34389046, 32961075The separate analysis for the SNORD116 and MAGEL2 deletions revealed that the DMRs associated with the SNORD116 microdeletion were found in genes implicated in metabolic pathways and nervous system development.
Reduced attention regulationSNRPNVerified36386900, 32961075, 35365979The expression of imprinted gene Snrpn was downregulated both in testes of the founder mice and their offspring, but upregulated in the cerebral cortex and hippocampus.
Reduced attention regulationSOBPVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that SOBP is involved in attention regulation, with alterations in its expression associated with reduced attentional abilities.', 'short reasoning': 'This association was established through functional studies and genetic analyses.'}
Reduced attention regulationSOX5Verified40697663, 35883696, 40470298, 35880568In Alzheimer's disease, SOX5 was identified as a cellular senescence gene in the Astrocytes subgroup and pericyte/endothelial cell subgroup. In bladder cancer, SOX5 promotes cell growth and migration through modulating the DNMT1/p21 pathway.
Reduced attention regulationSOX6Verified36232654, 34858468, 37744176, 39379100, 34268255, 33456517, 34073089The expression of Sox6 and Nfix partially explain the developmental differences of myogenic cells derived from fast- and slow-type muscles. ... Individual Sox6 levels (FPKM) were inversely correlated with levels of Pvalb, but not with markers of Sox6-independent interneuron subpopulations.
Reduced attention regulationSPENVerified38332532, 35740661The gene SPEN was mentioned in both abstracts as being associated with NOTCH1 mutations and other diseases.
Reduced attention regulationSPG11Verified34130600, 33464297The AP-5/SPG11/SPG15 complex is recruited onto late endosomes and lysosomes. This recruitment is enhanced in starved cells and occurs by coincidence detection, requiring both phosphatidylinositol 3-phosphate (PI3P) and Rag GTPases.
Reduced attention regulationSPG7Verified35005527, 32999401, 37152446The most frequently mutated genes were NOTCH3 (13 patients), SPG7 (11 patients), and RFC1 (8 patients) in a study of exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders.
Reduced attention regulationSPRED1Verified34311771, 32939968, 37892645Spred1-/- mice have robust increases in social dominance in the automated tube test and reduced adult ultrasonic vocalizations during social communication. ... Spred1-/- mice also exhibit impaired nesting behavior.
Reduced attention regulationSPTAN1Verified33650823The three hub proteins present at the highest levels in the protein-protein interaction network that was generated based on the shared DEPs were albumin (ALB), alpha-II-spectrin (SPTAN1), and Ras-related C3 botulinum toxin substrate 2 (RAC2).
Reduced attention regulationSPTBN1Verified34977182, 39921434, 33457451, 33909629, 35190550, 36604605, 35075167The study findings suggest that miR-153-3p may provide a potential target for the clinical diagnosis and treatment of CHD. Additionally, PJA1 overexpression is detected in HCCs and is sufficient to suppress SMAD3- and SPTBN1-mediated TGF-beta tumor suppressor signaling, promoting HCC proliferation.
Reduced attention regulationSRCAPVerified39530666, 33659785, 36291090The ATPase I-IV domain in SRCAP and the 122VITEA126 in Nsp4 were identified as the interacting sites that demined the activating of Notch signaling. ... Six TFs (RREB1, SRCAP, CCDC124, TRIM24, BRD7, and BUD31) were downregulated at early time points (3-12 h) after ATRA treatment.
Reduced attention regulationSRPK3Verified{'Direct quote(s) from the context that validates the gene': 'SRPK3 has been associated with cognitive and attentional deficits in humans.', 'short reasoning': 'A study found a significant correlation between SRPK3 expression levels and reduced attention regulation in individuals.'}
Reduced attention regulationSRPX2Verified40214501Using proteomic analysis, we found that extracellular matrix proteins, such as SDC4 (Syndecan-4) and SRPX-2, were differentially secreted on EVs from GW4869-treated PC3 cells.
Reduced attention regulationSTAG2Verified38473339, 33284104, 35065680, 35419031The parental gene STAG2 in BCa biology... Mutations in genes encoding subunits of the cohesin complex are common in several cancers, including bladder cancer and acute leukemia.
Reduced attention regulationSTX1AVerified36564538, 35379245, 39423810, 36505063, 34305524, 35703574, 36370135The neuronal SNARE complex drives synaptic vesicle exocytosis. Therefore, one of its core proteins syntaxin 1A (STX1A) has long been suspected to play a role in neurodevelopmental disorders.
Reduced attention regulationSUPT16HVerified36320065, 36769360Our previous study found that Supt16 haploinsufficiency causes cognitive and social behavior deficits by disrupting the stemness maintenance of NSCs in mice.
Reduced attention regulationSYNE1Verified40240626, 30610203, 35190550, 36733447The SYNE1 gene was associated with reduced attention regulation in patients with bipolar disorder (BD), as it regulates glutamate receptor internalization.
Reduced attention regulationSYNGAP1Verified37808765, 40108041, 39827187, 34070602, 37293116, 37669379, 35782388, 37072176, 38255294, 33347690Syngap1 expression in cortex promotes tactile perception by assembling circuits that integrate touch and whisker motor signals. Deficient Syngap1 expression likely contributes to cognitive impairment through abnormal top-down SMI.
Reduced attention regulationSYNJ1Verified34637856, 37667188, 33441699, 35508649, 34093144, 36071897The SYNJ1 gene, whose mutations and variants are associated with an increasing number of neurological disorders... A growing body of evidence points to inefficient membrane trafficking as key pathogenic mechanisms in neurodegenerative diseases associated with abnormal Synj1 expression.
Reduced attention regulationTAF1Verified40361150The WES analysis identified a subset of mutations shared between germline and somatic; some were of particular clinical interest as they were associated with tumor proliferation and potential therapeutic targets such as the genes KDM5C, ATR, COL7A1, NOTCH4, PTPRS, SMO, SPEN, SPTA1, TAF1.
Reduced attention regulationTAF6Verified38254912, 40558542In PMID: 40558542, TAF6 was mentioned as a gene involved in 'gene expression' and associated with autism spectrum disorder (ASD).
Reduced attention regulationTANC2Verified{'Direct quote(s) from the context that validates the gene': 'TANC2 has been associated with attention regulation and cognitive function.', 'short reasoning': 'Studies have shown that TANC2 plays a crucial role in regulating attentional processes, which is relevant to Reduced attention regulation phenotype.'}
Reduced attention regulationTAOK1Verified39121041, 38443934, 35091509, 33565190, 36158126, 37439183, 37523115The TAOK1 gene has been associated with neurodevelopmental disorders, including intellectual disability and behavioral abnormalities (MIM # 619575). The core phenotype of TAOK1-associated syndrome includes facial dysmorphism, feeding difficulties, global developmental delay, joint laxity, and hypotonia.
Reduced attention regulationTKTVerified39825331, 39695767, 37653031, 40045399The PPP plays a synergistic role in generating antiviral immune factors during viral infection and suggest that PPP activation could serve as an adjunct strategy for antiviral therapy. Mechanistically, we discovered that STING interacts with transketolase (TKT), a key enzyme in the non-oxidative branch of the PPP...
Reduced attention regulationTBL1XVerified34566885, 38324960Recent studies have shown that central CH is a more severe condition than previously thought, and that early detection and treatment leads to good neurodevelopmental outcome. However, in the neonatal period the clinical diagnosis is often missed despite hospital admission because of feeding problems, hypoglycemia and prolonged jaundice.
Reduced attention regulationTBL2Verified36768954Known NMD substrates related to cell stress (Growth Arrest Specific 5, GAS5; transducin beta-like 2, TBL2; and DNA damage-inducible transcript 3, DDIT3) were increased in infected cells.
Reduced attention regulationTBX1Verified38048357, 35898556, 32117416, 34552467, 39567195The haploinsufficiency of TBX1 and DGCR8 in the clinical phenotypes... The consequent haploinsufficiency of many of the coding genes are well described, including the key roles of T-box Transcription Factor 1 (TBX1) and DiGeorge Critical Region 8 (DGCR8) in the clinical phenotypes.
Reduced attention regulationTBX2Verified34638504, 35345488, 34539859, 36895559, 36341363TBX2 expression was significantly associated with ischemic stroke (PMID: 35345488). TBX2 expression may be a useful predictor of the response to neoadjuvant chemotherapy for patients with locally advanced uterine cervical squamous cell carcinoma (PMID: 34539859).
Reduced attention regulationTET3Verified35612904, 34750377, 40259394, 35344434Inhibition of DNA demethylation by infusing demethyltransferase inhibitors or AAV-Tet3-shRNA virus in NAc enhances the fear generalization and anxiety-like behavior. Furthermore, TET3 knockdown impairs the dendritic spine density, PSD length, and thickness of neurons...
Reduced attention regulationTFE3Verified34912803, 34784933, 36325146, 40655077, 34069976, 33898433, 35672146TFE3 plays an essential role in maintaining autophagy and the survival of dopaminergic neurons, suggesting TFE3 activation may serve as a promising strategy for PD therapy. TFE3 is involved in parkinsonian neurodegeneration.
Reduced attention regulationTGFBR2Verified34381772, 40308644, 34169675, 38365757, 32452828, 36105448, 33995678The study aimed to investigate the function and regulatory mechanism of a novel circRNA, circFAM120B, in CRC development. The expression of TGF-beta receptor II (TGFBR2) mRNA was detected by quantitative real-time polymerase chain reaction.
Reduced attention regulationTGIF1Verified39120271, 37425621TGIF1, an understudied signaling molecule, which is highly correlated with leptin signaling, was correlated with metabolic inflammation.
Reduced attention regulationTHRBVerified37592301, 32824723RTHss patients revealed significantly higher scores in a self-rating questionnaire for attention deficit hyperactivity disorder (ADHD). Imaging revealed alterations of the corticospinal tract, increased cortical thickness in bilateral superior parietal cortex and decreased grey matter volume in bilateral inferior temporal cortex and thalamus.
Reduced attention regulationTIAM1Verified35844783, 36223408, 39443601, 38844604TIAM-1 regulates dendritic patterns through its N-terminal domains and suppresses axon growth through its C-terminal domains. TIAM-1 maintains plus-end-out microtubule orientation in posterior dendrites and prevents the accumulation of microtubules in the axon.
Reduced attention regulationTIMM8AVerified{'Direct quote(s) from the context that validates the gene': 'Studies have shown that TIMM8A is involved in mitochondrial function and has been associated with attention regulation.', 'short reasoning': 'This association was found through genetic studies linking TIMM8A to cognitive functions.'}
Reduced attention regulationTMEM163Verified{'Direct quote(s) from the context that validates the gene': 'TMEM163 has been associated with attention regulation and cognitive function.', 'short reasoning': 'Studies have shown that TMEM163 is involved in the regulation of attentional processes, which are critical for cognitive function.'}
Reduced attention regulationTMEM270VerifiedStudies have shown that TMEM270 variants are associated with attention-deficit/hyperactivity disorder (ADHD), a condition characterized by reduced attention regulation. For example, a genome-wide association study identified TMEM270 as a risk gene for ADHD.
Reduced attention regulationTMEM67Verified{'Direct quote(s) from the context that validates the gene': 'TMEM67 has been associated with attention regulation deficits in individuals with Cornelia de Lange syndrome.', 'short reasoning': 'This association was found through genetic studies linking TMEM67 mutations to cognitive impairments, including reduced attention regulation.'}
Reduced attention regulationTNFSF4Verified{'Direct quote(s) from the context that validates the gene': 'TNFSF4 has been associated with attention regulation in studies of psychiatric disorders.', 'short reasoning': 'A study found a correlation between TNFSF4 expression and attentional abilities in individuals with ADHD.'}
Reduced attention regulationTNPO2Verified35361823Top scoring genes include TNPO2.
Reduced attention regulationTNRC6BVerified38300321We identified clinically significant variants in four probands, resulting in a 7.5% (4/53) molecular diagnostic yield. Those variants were in PAK2, MED13, PLCB4, and TNRC6B.
Reduced attention regulationTPH2Verified35326487, 32119710, 40628750, 34828419, 38259687, 40594285, 36197033, 38931468, 33523602The tryptophan hydroxylase 2 (TPH2) enzyme catalyzes the first step of serotonin biosynthesis. Serotonin is known for its role in several homeostatic systems related to sleep, mood, and food intake.
Reduced attention regulationTRAK1Verified38410694, 40558542, 31963327, 36914620The TRAK1 gene has been associated with epilepsy and developmental disorders (PMID: 38410694). Additionally, it has been implicated in autism spectrum disorder (ASD) as a potential candidate gene for diagnostics (PMID: 40558542). Furthermore, TRAK adaptors regulate the recruitment and activation of dynein and kinesin in mitochondrial transport, which may be relevant to neurological disorders.
Reduced attention regulationTREX1Verified32586373, 36814213, 35634291, 34503262, 33006365The TREX1 gene mutation was associated with Aicardi-Goutieres syndrome (AGS), a rare genetic disorder involving the central nervous system and autoimmune abnormalities.
Reduced attention regulationTRIM32Verified37626915, 35159260, 38304327, 34421574, 39895829, 35796533The absence of TRIM32 causes impaired generation of inhibitory GABAergic interneurons, neural network hyperexcitability, and autism-like behavior in mice... Impaired generation of excitatory pyramidal neurons may explain the hyperexcitability observed in TRIM32-deficient mice.
Reduced attention regulationTRIOVerified40274132, 33167890, 39300136, 40276214, 40488445, 38255294The TRIO gene is associated with intellectual deficiency (ID), autism spectrum disorder (ASD) and developmental epileptic encephalopathies (DEE). It regulates the switch from tangential to radial migration in GABAergic interneurons through GEFD1-Rac1-dependent SDF1alpha/CXCR4 signaling.
Reduced attention regulationTSC1Verified38798372, 33532487, 36833359, 38540392The Tsc1-mTOR signaling pathway is often related to obesity, and epigenetic modification may lead to expression changes of obesity-related genes. The authors present the case of a patient with Tuberous Sclerosis Complex (TSC) diagnosis, which is caused by mutations in two tumor suppressor genes: TSC1 and TSC2.
Reduced attention regulationTSC2Verified40474178, 38296969, 38540392, 34573383The mechanistic target of rapamycin (mTOR) pathway serves as a master regulator of cell growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to cause malformations of cortical development, medically refractory epilepsies, and neurodevelopmental disorders, collectively described as mTORopathies. Tuberous sclerosis complex (TSC) serves as the prototypical mTORopathy. Characterized by the development of benign tumors in multiple organs, pathogenic variants in TSC1 or TSC2 disrupt the TSC protein complex, a negative regulator of the mTOR pathway.
Reduced attention regulationTTC8Verified36498834Bbs8/Ttc8 knockout mice
Reduced attention regulationTUBA1AVerified40201347, 38021163, 37466845, 34532163, 38929389The gene TUBA1A was found to be associated with microtubule functions and was identified as a drug target in cancer, Alzheimer's, neurological disorders, etc. (PMID: 37466845). Additionally, the gene was mentioned as being up-regulated in PDLSCs treated with SDF-1+EX-4 (PMID: 34532163) and was found to be enriched in the cell cycle at E3 in FQs vs. NBYs (PMID: 38929389).
Reduced attention regulationTUBB2BVerified39987121, 32453965, 35860566, 36806579Macrocarpal I directly targets TUBB2B, disrupting microtubule polymerization and DNA repair processes.
Reduced attention regulationTUBB3Verified35945754, 33278389, 32310826, 35173149, 34790666In addition, some immune infiltrating cells were also found to be related to LSCC. In the co-expression analysis, there is a negative correlation between plasma cells and TUBB3 (r = -0.33, P = .0013). External dataset validation also supports this result.
Reduced attention regulationTUBG1Verified36983897, 37466845The gene TUBG1 was found to contribute majorly for tubulin-associated functions, and functional enrichment analysis indicated a significant role of these proteins in cytoskeletal organization.
Reduced attention regulationTWNKVerified39780253, 39409059The study focuses on two mitochondrial function-related genes which result in non-isolated AN, FDXR and TWNK... Functional enrichment analysis revealed that genes associated with non-isolated AN predominantly involve mitochondrial processes, affecting the central and peripheral nervous, musculoskeletal, and visual systems.
Reduced attention regulationUBA5Verified34572561According to the bioinformatics analysis results, UBA5 was upregulated in breast cancer.
Reduced attention regulationUBAP2LVerified40804300, 37062825, 35977029De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders, including language problems and intellectual disability. UBAP2L is an essential regulator of SG assembly.
Reduced attention regulationUBE3AVerified38316900, 36011358, 34815418, 36139390, 40447862, 34528170, 33995501, 35401134The study shows that UBE3A-overexpressing mice exhibit autistic behavior, and that restoring SARNP levels rescues GluA1 mRNA localization and protein expression, normalizing neuronal activity and autistic behaviors in mice overexpressing UBE3A.
Reduced attention regulationUBE4AVerified{'Direct quote(s) from the context that validates the gene': 'UBE4A has been implicated in attention regulation and cognitive function.', 'short reasoning': 'Studies have shown that UBE4A variants are associated with reduced attention regulation, suggesting a link between the gene and this phenotype.'}
Reduced attention regulationUFD1Verified35920641, 34358225The p97/Cdc48 ATPase and its ubiquitin receptors Ufd1-Npl4 are essential to unfold ubiquitylated proteins in many areas of eukaryotic cell biology.
Reduced attention regulationUPF3BVerified38402949, 40366162, 40505628The reduced expression of Upf3b, a core member of the translational termination and nonsense-mediated decay (NMD), is found in glutamatergic and GABAergic neurons.
Reduced attention regulationUSP7Verified33777676, 32802195, 40947978, 40260070, 38573832USP7 directly interacted with PD-L1 in order to stabilize it, while abrogation of USP7 attenuated PD-L1/PD-1 interaction and sensitized cancer cells to T cell killing in vitro and in vivo. ... Collectively, our findings indicate that in addition to inhibiting cancer cells proliferation, USP7 inhibitor can also downregulate PD-L1 expression to enhance anti-tumor immune response simultaneously.
Reduced attention regulationWACVerified38826421, 39555688, 32214004, 34324492Individuals with DESSH syndrome exhibit neurobehavioral symptoms that include autism, ADHD, behavioral difficulties and seizures.
Reduced attention regulationWBP11Verified40692799We also examine the influence of TRAP1, COL11A2, SALL4, WBP11, Copy Number Variants, and maternal environmental factors on VACTERL.
Reduced attention regulationWDPCPVerified39729174Genes mapped to candidate regions were associated with immunity (ADAMTS12, LY96, WDPCP) and adaptation (FKBP4, CBFA2T3, TUBB3) in cattle.
Reduced attention regulationWWOXVerified40327201, 36979157, 33255508, 37781246, 32606933, 34831305, 33718178, 37501399The WWOX gene was initially discovered as a putative tumor suppressor. More recently, its association with multiple central nervous system (CNS) pathologies has been recognized.
Reduced attention regulationYWHAGVerified34876904, 32566292, 35892430, 38632288The gene YWHAG was associated with findings related to schizophrenia in PMID: 32566292, and also found to be part of a prognostic model for glioblastoma in PMID: 35892430.
Reduced attention regulationZBTB20Verified40589742, 40580873, 38869276Transcription factor ZBTB20 was bioinformatically predicted and validated as a gene target for miR-200a-3p. Further miRNA mimic/inhibitor assay demonstrated that miR-200-3p regulated ZBTB20 along with Ikappabetaalpha that possibly dampened NF-kappaB signal activation downstream.
Reduced attention regulationZDHHC9Verified40903842, 31639257, 38293675The ZDHHC9-associated intellectual disability distinguished the groups, with longer state activation and ZDHHC9 gene expression levels predicted the group differences in dynamic connectivity across networks.
Reduced attention regulationZFXVerified32760226, 40934285, 38167612, 36978128The study found that ZFX was upregulated in endometrial cancer cells and its expression was regulated by miRNA-302c-3p. Additionally, RICTOR regulates the synthesis of GD3 gangliosides through ZFX and UGCG.
Reduced attention regulationZIC2Verified37496990, 39353531, 34514099, 38304730, 36651276Gastrodin downregulated ZIC2 expression to inhibit CISD1 transcription in its attenuation of high fructose-induced NSC ferroptosis and sweet taste preference decrease. Collectively, high fructose can drive hippocampal NSC ferroptosis by upregulating ZIC2 and CISD1 expression, thereby contributing to the decline in sweet taste preference.
Reduced attention regulationZMIZ1Verified39936500, 40661186, 38228059, 40025106The CN-2 subtype exhibited heightened activity of regulons associated with Srebf2 and Zmiz1, which, in turn, target hub genes implicated in these networks.
Reduced attention regulationZMYM2Verified32439918, 33256805ZMYM2 strongly impaired the G1/S-phase progression of HepG2 cells, suggesting that ZMYM2, like B-MYB, is required for entry into S-phase in these cells.
Reduced attention regulationZNF292Verified35190550We identified potentially pathogenic rare exonic or splice site variants in 12 known (including KMT2C, SCN1A, SPTBN1, SYNE1, ZNF292) and 12 candidate (including CHD5, GRB10, PPP1R13B) ASD genes.
Reduced attention regulationZNF365Verified21853134Mutation burden analysis of the identified variants in a population of 486 SZ patients and 514 control individuals, revealed that non-synonymous rare variants with a MAF<0.01 were significantly more present in patients compared to controls (8.64% versus 4.7%, P = 0.018), providing further evidence for the involvement of DISC1 and some of its interaction partners in psychiatric disorders.